LOVD - Variant listings for GJB2

About this overview [Show]

Patient data (#0000402)
Race -
Reference -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DNA change c.208C>T
Protein p.P70S
dbSNP ID -

107 entries in ABCB11

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.74C>A p.S25X -
+/+ Unknown c.149T>C p.L50S -
+/+ Unknown c.319T>C p.C107R -
+/+ Unknown c.403G>A p.E135K -
+/+ Unknown c.409G>A p.E137K -
+/+ Unknown c.470A>G p.Y157C -
+/+ Unknown c.499G>A p.A167T -
+/+ Unknown c.500C>T p.A167V -
+/+ Unknown c.547A>G p.M183V -
+/+ Unknown c.557A>G p.E186G -
+/+ Unknown c.562G>T p.G188W -
+/+ Unknown c.593T>C p.L198P -
+/+ Unknown c.616A>G p.I206V -
+/+ Unknown c.713G>T p.G238V -
+/+ Unknown c.725C>T p.T242I -
+/+ Unknown c.850G>C p.V284L -
+/+ Unknown c.851T>C p.V284A -
+/+ Unknown c.889G>A p.E297K -
+/+ Unknown c.890A>G p.E297G -
+/+ Unknown c.908G>A p.R303K -
+/+ Unknown c.936G>T p.Q312H -
+/+ Unknown c.937C>A p.R313S -
+/+ Unknown c.957A>G p.G319G -
+/+ Unknown c.980G>A p.G327E -
+/+ Unknown c.990G>A p.W330X -
+/+ Unknown c.1007G>C p.C336S -
+/+ Unknown c.1168G>C p.A390P -
+/+ Unknown c.1229G>A p.G410D -
+/+ Unknown c.1238T>G p.L413W -
+/+ Unknown c.1243C>T p.R415X -
+/+ Unknown c.1295G>C p.R432T -
+/+ Unknown c.1331T>C p.V444A -
+/+ Unknown c.1381A>G p.K461E -
+/+ Unknown c.1388C>T p.T463I -
+/+ Unknown c.1396C>A p.Q466K -
+/+ Unknown c.1409G>A p.R470Q -
+/+ Unknown c.1415A>G p.Y472C -
+/+ Unknown c.1416T>A p.Y472X -
+/+ Unknown c.1442T>A p.V481E -
+/+ Unknown c.1445A>G p.D482G -
+/+ Unknown c.1460G>A p.R487H -
+/+ Unknown c.1460G>C p.R487P -
+/+ Unknown c.1468A>G p.N490D -
+/+ Unknown c.1493T>C p.I498T -
+/+ Unknown c.1496G>A p.G499E -
+/+ Unknown c.1535T>C p.I512T -
+/+ Unknown c.1544A>C p.N515T -
+/+ Unknown c.1550G>A p.R517H -
+/+ Unknown c.1558A>T p.R520X -
+/+ Unknown c.1620C>A p.F540L -
+/+ Unknown c.1621A>C p.I541L -
+/+ Unknown c.1622T>C p.I541T -
+/+ Unknown c.1643T>A p.F548Y -
+/+ Unknown c.1674G>C p.Q558H -
+/+ Unknown c.1685G>A p.G562D -
+/+ Unknown c.1708G>A p.A570T -
+/+ Unknown c.1723C>T p.R575X -
+/+ Unknown c.1757C>T p.T586I -
+/+ Unknown c.1763C>T p.A588V -
+/+ Unknown c.1772A>G p.N591S -
+/+ Unknown c.1779T>A p.S593R -
+/+ Unknown c.1880T>C p.I627T -
+/+ Unknown c.1907A>G p.E636G -
+/+ Unknown c.1964C>T p.T655I -
+/+ Unknown c.2104C>T p.Q702X -
+/+ Unknown c.2272G>C p.G758R -
+/+ Unknown c.2296G>A p.G766R -
+/+ Unknown c.2316T>G p.Y772X -
+/+ Unknown c.2453A>T p.Y818F -
+/+ Unknown c.2479C>A p.L827I -
+/+ Unknown c.2494C>T p.R832C -
+/+ Unknown c.2563G>A p.G855R -
+/+ Unknown c.2576C>G p.T859R -
+/+ Unknown c.2606A>C p.Q869P -
+/+ Unknown c.2767A>C p.T923P -
+/+ Unknown c.2776G>C p.A926P -
+/+ Unknown c.2782C>T p.R928X -
+/+ Unknown c.2842C>T p.R948C -
+/+ Unknown c.2935A>G p.N979D -
+/+ Unknown c.2944G>A p.G982R -
+/+ Unknown c.3011G>A p.G1004D -
+/+ Unknown c.3084A>G p.A1028A -
+/+ Unknown c.3086C>A p.T1029K -
+/+ Unknown c.3148C>T p.R1050C -
+/+ Unknown c.3169C>T p.R1057X -
+/+ Unknown c.3172C>T p.Q1058X -
+/+ Unknown c.3268C>T p.R1090X -
+/+ Unknown c.3329C>A p.A1110E -
+/+ Unknown c.3342C>A p.S1114R -
+/+ Unknown c.3346G>C p.G1116R -
+/+ Unknown c.3382C>T p.R1128C -
+/+ Unknown c.3383G>A p.R1128H -
+/+ Unknown c.3457C>T p.R1153C -
+/+ Unknown c.3458G>A p.R1153H -
+/+ Unknown c.3460T>C p.S1154P -
+/+ Unknown c.3556G>A p.E1186K -
+/+ Unknown c.3628A>C p.T1210P -
+/+ Unknown c.3643C>T p.Q1215X -
+/+ Unknown c.3669G>C p.E1223D -
+/+ Unknown c.3691C>T p.R1231W -
+/+ Unknown c.3692G>A p.R1231Q -
+/+ Unknown c.3703C>T p.R1235X -
+/+ Unknown c.3724C>A p.L1242I -
+/+ Unknown c.3803G>A p.R1268Q -
+/+ Unknown c.3875G>T p.G1292V -
+/+ Unknown c.3892G>A p.G1298R -
+/+ Unknown c.3904G>T p.E1302X -

68 entries in ABCB4

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.139C>t p.R47X -
+/+ Unknown c.377G>A p.G126E -
+/+ Unknown c.412T>C p.W138R -
+/+ Unknown c.430C>T p.R144X -
+/+ Unknown c.449G>A p.R150K -
+/+ Unknown c.475C>T p.R159X -
+/+ Unknown c.493T>A p.F165I -
+/+ Unknown c.504C>T p.N168N -
+/+ Unknown c.523A>G p.T175A -
+/+ Unknown c.711A>T p.I237I -
+/+ Unknown c.748G>C p.A250P -
+/+ Unknown c.837T>A p.Y279X -
+/+ Unknown c.857C>T p.A286V -
+/+ Unknown c.874A>T p.K292X -
+/+ Unknown c.902T>C p.M301T -
+/+ Unknown c.959C>T p.S320F -
+/+ Unknown c.1037G>T p.S346I -
+/+ Unknown c.1069T>C p.F357L -
+/+ Unknown c.1091C>T p.A364V -
+/+ Unknown c.1184A>G p.E395G -
+/+ Unknown c.1207T>C p.Y403H -
+/+ Unknown c.1270A>G p.T424A -
+/+ Unknown c.1273G>A p.V425M -
+/+ Unknown c.1424T>C p.V475A -
+/+ Unknown c.1531G>A p.A511T -
+/+ Unknown c.1576G>T p.V526F -
+/+ Unknown c.1584G>C p.E528D -
+/+ Unknown c.1604G>A p.G535D -
+/+ Unknown c.1606G>A p.G536R -
+/+ Unknown c.1621A>T p.I541F -
+/+ Unknown c.1633C>G p.R545G -
+/+ Unknown c.1637C>A p.A546D -
+/+ Unknown c.1646G>A p.R549H -
+/+ Unknown c.1667T>G p.L556R -
+/+ Unknown c.1672G>A p.E558K -
+/+ Unknown c.1675G>A p.A559T -
+/+ Unknown c.1691A>G p.D564G -
+/+ Unknown c.1769G>A p.R590Q -
+/+ Unknown c.1772T>A p.L591Q -
+/+ Unknown c.1777A>G p.T593A -
+/+ Unknown c.1888A>G p.M630V -
+/+ Unknown c.1906C>T p.Q636X -
+/+ Unknown c.1954A>G p.R652G -
+/+ Unknown c.1973G>A p.W658X -
+/+ Unknown c.2102T>C p.L701P -
+/+ Unknown c.2132T>C p.F711S -
+/+ Unknown c.2144C>T p.T715I -
+/+ Unknown c.2168G>A p.G723E -
+/+ Unknown c.2176C>A p.P726T -
+/+ Unknown c.2210C>T p.A737V -
+/+ Unknown c.2212A>C p.I738L -
+/+ Unknown c.2284G>T p.G762X -
+/+ Unknown c.2285G>A p.G762E -
+/+ Unknown c.2290A>C p.I764L -
+/+ Unknown c.2324C>T p.T775M -
+/+ Unknown c.2362C>T p.R788W -
+/+ Unknown c.2363G>A p.R788Q -
+/+ Unknown c.2519C>A p.A840D -
+/+ Unknown c.2662G>T p.E888X -
+/+ Unknown c.2800G>A p.A934T -
+/+ Unknown c.2858C>A p.A953D -
+/+ Unknown c.2860G>A p.G954S -
+/+ Unknown c.2869C>T p.R957X -
+/+ Unknown c.2947G>A p.G983S -
+/+ Unknown c.3136C>T p.R1046X -
+/+ Unknown c.3245T>A p.L1082Q -
+/+ Unknown c.3481C>T p.P1161S -
+/+ Unknown c.3556G>A p.A1186T -

59 entries in ACADM

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
Variant remarks Descending
Ascending
dbSNP ID Descending
Ascending
+/+? Unknown c.85C>T p.R29X Derks (2006) J Pediatr 148:665 -
+/+? Unknown c.127G>A p.E43K McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.134A>G p.Q45R Nichols (2008) Am J Med Genet A 146A:610 -
+/+? Unknown c.155C>T p.A52V Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.157C>T p.R53C Tanaka (1992) Hum Mutat 1:271 -
+/+? Unknown c.166G>C p.A56P Nichols (2008) Am J Med Genet A 146A:610 -
+/+? Unknown c.199T>C p.Y67H Zschocke (2001) Hum Genet 108:404 -
+/+? Unknown c.233T>C p.I78T Andresen (2001) Am J Hum Genet 68:1408 -
+/+? Unknown c.250C>T p.L84F Waddell (2006) Mol Genet Metab 87:32 -
+/+? Unknown c.253G>T p.G85C McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.275C>T p.P92L Purevsuren (2009) Mol Genet Metab 96:77 -
+/+? Unknown c.311A>G p.D104G Waddell (2006) Mol Genet Metab 87:32 -
+/+? Unknown c.320T>C p.L107S McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.347G>A p.C116Y Andresen (1997) Hum Mol Genet 6:695 -
+/+? Unknown c.351A>C p.T117T Derks (2006) J Pediatr 148:665 -
+/+? Unknown c.362C>T p.T121I Andresen (2001) Am J Hum Genet 68:1408 -
+/+? Unknown c.395C>G p.P132R Derks (2006) J Pediatr 148:665 -
+/+? Unknown c.430A>T p.K144X McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.447G>A p.M149I Yokota (1991) Am J Hum Genet 49:1280 -
+/+? Unknown c.464T>C p.M155T McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.472T>C p.Y158H Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.474T>G p.Y158X Andresen (1997) Hum Mol Genet 6:695 -
+/+? Unknown c.499T>C p.S167P McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.526G>A p.A176T Nichols (2008) Am J Med Genet A 146A:610 -
+/+? Unknown c.577A>G p.T193A Andresen (1997) Hum Mol Genet 6:695 -
+/+? Unknown c.580A>G p.N194D Nichols (2008) Am J Med Genet A 146A:610 -
+/+? Unknown c.583G>A p.G195R Brackett (1994) J Clin Invest 94:1477 -
+/+? Unknown c.589A>G p.K197E McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.608T>G p.L203X Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.609A>C p.L203F Derks (2006) J Pediatr 148:665 -
+/+? Unknown c.616C>T p.R206C Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.617G>A p.R206H Waddell (2006) Mol Genet Metab 87:32 -
+/+? Unknown c.617G>T p.R206L Yang (2000) Mol Genet Metab 69:259 -
+/+? Unknown c.631C>T p.P211S McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.683C>A p.T228N McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.694C>T p.Q232X Waddell (2006) Mol Genet Metab 87:32 -
+/+? Unknown c.730T>C p.C244R Yokota (1991) Am J Hum Genet 49:1280 -
+/+? Unknown c.734C>T p.S245L Zschocke (2001) Hum Genet 108:404 -
+/+? Unknown c.742A>G p.R248G Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.789A>C p.L263F Derks (2006) J Pediatr 148:665 -
+/+? Unknown c.797A>G p.D266G Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.799G>A p.G267R Yokota (1991) Am J Hum Genet 49:1280 -
+/+? Unknown c.820A>G p.M274V Purevsuren (2009) Mol Genet Metab 96:77 -
+/+? Unknown c.843A>T p.R281S Ensenauer (2005) Genet Med 7:339 -
+/+? Unknown c.881G>C p.R294T McKinney (2004) Mol Genet Metab 82:112 -
+/+? Unknown c.890A>G p.D297G Waddell (2006) Mol Genet Metab 87:32 -
+/+? Unknown c.928G>A p.G310R Andresen (2001) Am J Hum Genet 68:1408 -
+/+? Unknown c.977T>C p.M326T Andresen (1994) Am J Hum Genet 54:975 -
+/+? Unknown c.985A>G p.K329E Matsubara (1990) Biochem Biophys Res Commun 171:498 -
+/+? Unknown c.1001G>A p.R334K Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.1008T>A p.S336R Andresen (1994) Am J Hum Genet 54:975 -
+/+? Unknown c.1045C>T p.R349X Andresen (1994) Am J Hum Genet 54:975 -
+/+? Unknown c.1055A>G p.Y352C Andresen (1997) Hum Mol Genet 6:695 -
+/+? Unknown c.1067T>C p.I356T Maier (2005) Hum Mutat 25:443 -
+/+? Unknown c.1085G>A p.G362E Purevsuren (2009) Mol Genet Metab 96:77 -
+/+? Unknown c.1124T>C p.I375T Yokota (1991) Am J Hum Genet 49:1280 -
+/+? Unknown c.1150G>T p.E384X Andresen (1994) Am J Hum Genet 54:975 -
+/+? Unknown c.1189T>A p.Y397N Yokoi (2007) Tohoku J Exp Med 213:351 -
+/+? Unknown c.1237C>A p.R413S Maier (2005) Hum Mutat 25:443 -

68 entries in ACADVL

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+? Unknown c.65C>A p.S22X -
+/+? Unknown c.128G>A p.G43D -
+/+? Unknown c.194C>T p.P65L -
+/+? Unknown c.227G>A p.G76E -
+/+? Unknown c.265C>T p.P89S -
+/+? Unknown c.398G>A p.W133X -
+/+? Unknown c.433C>T p.Q145X -
+/+? Unknown c.455G>A p.G152D -
+/+? Unknown c.473C>A p.T158N -
+/+? Unknown c.476A>G p.Q159R -
+/+? Unknown c.481G>A p.A161T -
+/+? Unknown c.520G>A p.V174M -
+/+? Unknown c.535G>T p.G179W -
+/+? Unknown c.553G>A p.G185S -
+/+? Unknown c.602A>G p.Y201C -
+/+? Unknown c.614T>C p.L205P -
+/+? Unknown c.637G>A p.A213T -
+/+? Unknown c.637G>C p.A213P -
+/+? Unknown c.652G>A p.E218K -
+/+? Unknown c.685C>T p.R229X -
+/+? Unknown c.694G>A p.A232T -
+/+? Unknown c.728T>G p.L243R -
+/+? Unknown c.739A>C p.K247Q -
+/+? Unknown c.739A>G p.K247E -
+/+? Unknown c.740A>C p.K247T -
+/+? Unknown c.779C>T p.T260M -
+/+? Unknown c.790A>G p.K264E -
+/+? Unknown c.842C>A p.A281D -
+/+? Unknown c.848T>C p.V283A -
+/+? Unknown c.865G>A p.G289R -
+/+? Unknown c.869G>A p.G290D -
+/+? Unknown c.881G>A p.G294E -
+/+? Unknown c.896A>T p.K299M -
+/+? Unknown c.897G>T p.K299N -
+/+? Unknown c.950T>C p.V317A -
+/+? Unknown c.953C>T p.P318L -
+/+? Unknown c.1054A>G p.M352V -
+/+? Unknown c.1096C>T p.R366C -
+/+? Unknown c.1097G>A p.R366H -
+/+? Unknown c.1117A>T p.I373F -
+/+? Unknown c.1144A>C p.K382Q -
+/+? Unknown c.1153C>T p.R385W -
+/+? Unknown c.1194C>A p.Y398X -
+/+? Unknown c.1213G>C p.D405H -
+/+? Unknown c.1246G>A p.A416T -
+/+? Unknown c.1280G>A p.W427X -
+/+? Unknown c.1309A>G p.M437V -
+/+? Unknown c.1322G>A p.G441D -
+/+? Unknown c.1349G>A p.R450H -
+/+? Unknown c.1358G>A p.R453Q -
+/+? Unknown c.1360G>A p.D454N -
+/+? Unknown c.1367G>A p.R456H -
+/+? Unknown c.1372T>C p.F458L -
+/+? Unknown c.1375C>T p.R459W -
+/+? Unknown c.1376G>A p.R459Q -
+/+? Unknown c.1388G>A p.G463E -
+/+? Unknown c.1405C>T p.R469W -
+/+? Unknown c.1406G>A p.R469Q -
+/+? Unknown c.1430G>A p.C477Y -
+/+? Unknown c.1468G>C p.A490P -
+/+? Unknown c.1505T>A p.L502Q -
+/+? Unknown c.1505T>C p.L502P -
+/+? Unknown c.1600G>A p.E534K -
+/+? Unknown c.1613G>C p.R538P -
+/+? Unknown c.1804C>A p.L602I -
+/+? Unknown c.1837C>T p.R613W -
+/+? Unknown c.1843C>T p.R615X -
+/+? Unknown c.1844G>A p.R615Q -

47 entries in ATP8B1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.134A>C p.N45T -
+/+ Unknown c.136C>T p.R46X -
+/+ Unknown c.208G>A p.D70N -
+/+ Unknown c.380T>C p.L127P -
+/+ Unknown c.608A>G p.K203R -
+/+ Unknown c.793T>C p.C265R -
+/+ Unknown c.818A>G p.D273G -
+/+ Unknown c.841T>A p.W281R -
+/+ Unknown c.863T>C p.L288S -
+/+ Unknown c.886C>T p.R296C -
+/+ Unknown c.916T>C p.C306R -
+/+ Unknown c.923G>A p.G308D -
+/+ Unknown c.923G>T p.G308V -
+/+ Unknown c.1030A>T p.I344F -
+/+ Unknown c.1208C>A p.S403Y -
+/+ Unknown c.1235G>C p.R412P -
+/+ Unknown c.1336G>A p.G446R -
+/+ Unknown c.1358C>A p.S453Y -
+/+ Unknown c.1361A>G p.D454G -
+/+ Unknown c.1367C>T p.T456M -
+/+ Unknown c.1498T>C p.Y500H -
+/+ Unknown c.1604A>T p.H535L -
+/+ Unknown c.1660G>A p.D554N -
+/+ Unknown c.1798C>T p.R600W -
+/+ Unknown c.1799G>A p.R600Q -
+/+ Unknown c.1804C>T p.R602X -
+/+ Unknown c.1882C>T p.R628W -
+/+ Unknown c.1982T>C p.I661T -
+/+ Unknown c.1993G>T p.E665X -
+/+ Unknown c.2021T>C p.M674T -
+/+ Unknown c.2063A>G p.D688G -
+/+ Unknown c.2081T>A p.I694N -
+/+ Unknown c.2081T>C p.I694T -
+/+ Unknown c.2197G>A p.G733R -
+/+ Unknown c.2271T>A p.Y757X -
+/+ Unknown c.2558T>C p.F853S -
+/+ Unknown c.2599C>T p.R867C -
+/+ Unknown c.2600G>A p.R867H -
+/+ Unknown c.2674G>A p.G892R -
+/+ Unknown c.2788C>T p.R930X -
+/+ Unknown c.2854C>T p.R952X -
+/+ Unknown c.2941G>A p.E981K -
+/+ Unknown c.3040C>T p.R1014X -
+/+ Unknown c.3118G>A p.G1040R -
+/+ Unknown c.3131C>T p.S1044L -
+/+ Unknown c.3391C>T p.Q1131X -
+/+ Unknown c.3490C>T p.R1164X -

5 entries in CASP10

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+? Unknown c.853C>T p.L285F -
+/+? Unknown c.1216A>T p.I406L -
+/+? Unknown c.1228G>A p.V410I -
+/+? Unknown c.1337A>G p.Y446C -
+/+? Unknown c.1502C>T p.P501L -

75 entries in CD40LG

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.31C>T p.R11X -
+/+ Unknown c.78T>G p.Y26X -
+/+ Unknown c.107T>G p.M36R -
+/+ Unknown c.112G>C p.G38R -
+/+ Unknown c.116C>A p.S39X -
+/+ Unknown c.142A>T p.R48X -
+/+ Unknown c.154A>T p.K52X -
+/+ Unknown c.166G>T p.E56X -
+/+ Unknown c.208C>T p.Q70X -
+/+ Unknown c.216C>A p.C72X -
+/+ Unknown c.226G>T p.E76X -
+/+ Unknown c.256G>T p.E86X -
+/+ Unknown c.286A>T p.K96X -
+/+ Unknown c.322G>T p.E108X -
+/+ Unknown c.334G>T p.E112X -
+/+ Unknown c.346G>C p.G116R -
+/+ Unknown c.368C>A p.A123E -
+/+ Unknown c.374A>G p.H125R -
+/+ Unknown c.377T>A p.V126D -
+/+ Unknown c.377T>C p.V126A -
+/+ Unknown c.384T>A p.S128R -
+/+ Unknown c.386A>G p.E129G -
+/+ Unknown c.415C>T p.Q139X -
+/+ Unknown c.418T>C p.W140R -
+/+ Unknown c.418T>G p.W140G -
+/+ Unknown c.419G>A p.W140X -
+/+ Unknown c.420G>A p.W140X -
+/+ Unknown c.420G>C p.W140C -
+/+ Unknown c.428A>C p.K143T -
+/+ Unknown c.431G>A p.G144E -
+/+ Unknown c.435C>A p.Y145X -
+/+ Unknown c.440C>A p.T147N -
+/+ Unknown c.464T>C p.L155P -
+/+ Unknown c.482T>C p.L161P -
+/+ Unknown c.496C>T p.Q166X -
+/+ Unknown c.499G>C p.G167R -
+/+ Unknown c.499G>T p.G167X -
+/+ Unknown c.500G>T p.G167V -
+/+ Unknown c.505T>A p.Y169N -
+/+ Unknown c.505T>G p.Y169D -
+/+ Unknown c.509A>G p.Y170C -
+/+ Unknown c.514T>C p.Y172H -
+/+ Unknown c.518C>A p.A173D -
+/+ Unknown c.520C>T p.Q174X -
+/+ Unknown c.521A>G p.Q174R -
+/+ Unknown c.527C>T p.T176I -
+/+ Unknown c.551C>A p.S184X -
+/+ Unknown c.556C>T p.Q186X -
+/+ Unknown c.584T>C p.L195P -
+/+ Unknown c.598A>T p.R200X -
+/+ Unknown c.604G>T p.E202X -
+/+ Unknown c.608G>T p.R203I -
+/+ Unknown c.619A>T p.R207X -
+/+ Unknown c.623C>A p.A208D -
+/+ Unknown c.632C>A p.T211N -
+/+ Unknown c.654C>A p.C218X -
+/+ Unknown c.658C>T p.Q220X -
+/+ Unknown c.661C>T p.Q221X -
+/+ Unknown c.665C>T p.S222F -
+/+ Unknown c.670C>T p.H224Y -
+/+ Unknown c.677G>C p.G226A -
+/+ Unknown c.679G>T p.G227X -
+/+ Unknown c.680G>A p.G227E -
+/+ Unknown c.680G>T p.G227V -
+/+ Unknown c.687T>A p.F229L -
+/+ Unknown c.692T>C p.L231S -
+/+ Unknown c.694C>T p.Q232X -
+/+ Unknown c.703G>C p.A235P -
+/+ Unknown c.710T>A p.V237E -
+/+ Unknown c.749G>C p.G250A -
+/+ Unknown c.757T>A p.F253I -
+/+ Unknown c.761C>T p.T254M -
+/+ Unknown c.769G>A p.G257S -
+/+ Unknown c.770G>A p.G257D -
+/+ Unknown c.773T>C p.L258S -

103 entries in CDH23

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.7C>T p.R3C rs7902757
+/+ Unknown c.65G>A p.W22X -
+/+ Unknown c.172C>T p.Q58X -
?/? Unknown c.366T>C p.V122V dbSNP
?/? Unknown c.371A>G p.D124G
+/+ Unknown c.371A>G p.D124G -
?/? Unknown c.372A>G p.T124T dbSNP
+/+ Unknown c.719C>T p.P240L -
?/? Unknown c.739G>A p.E247K
+/+ Unknown c.739G>A p.E247K -
+/+ Unknown c.902G>A p.R301Q -
?/? Unknown c.1038G>A p.P346P -
?/? Unknown c.1053C>T p.S351S -
+/+ Unknown c.1096G>A p.A366T -
?/? Unknown c.1096G>A p.A366T -
+/+ Unknown c.1355A>G p.N452S -
+/+ Unknown c.1439T>A p.L480Q -
+/+ Unknown c.1450G>C p.A484P -
?/? Unknown c.1469G>C p.G490A -
-?/- Unknown c.1487G>A p.S496N rs10999947
?/? Unknown c.1621G>A p.E541K -
+/+ Unknown c.1745G>A p.R582Q -
+/+ Unknown c.2206C>T p.R736X -
+/+ Unknown c.2263C>T p.H755Y -
?/? Unknown c.2316T>C p.N772N -
?/? Unknown c.2388T>C p.D796D -
?/? Unknown c.2761C>T p.L921L -
+/+ Unknown c.2968G>A p.D990N -
?/? Unknown c.3009T>C p.S1003S -
+/+ Unknown c.3178C>T p.R1060W -
+/+ Unknown c.3268G>A p.V1090I -
+/+ Unknown c.3293A>G p.N1098S -
+/+ Unknown c.3367C>T p.Q1123X -
+/+ Unknown c.3481C>T p.R1161X -
+/+ Unknown c.3557G>A p.G1186D -
+/+ Unknown c.3617C>G p.P1206R -
?/? Unknown c.3625A>G p.T1209A -
+/+ Unknown c.3625A>G p.T1209A -
+/+ Unknown c.3880C>T p.Q1294X -
+/+ Unknown c.4021G>A p.D1341N -
?/? Unknown c.4045C>T p.R1349C -
?/? Unknown c.4051A>G p.N1351D -
?/? Unknown c.4123G>A p.V475V -
?/? Unknown c.4287C>T p.P1429P -
+/+ Unknown c.4309C>T p.R1437X -
?/? Unknown c.4310G>A p.R1437Q -
+/+ Unknown c.4504C>T p.R1502X -
+/+ Unknown c.4520G>A p.R1507Q -
?/? Unknown c.4723G>A P.A1575T -
+/+ Unknown c.4756G>C p.A1586P -
+/+ Unknown c.4783G>A p.E1595K -
?/? Unknown c.5023G>A p.V1675I -
?/? Unknown c.5100C>T p.Y1700Y -
+/+ Unknown c.5147A>C p.Q1716P -
+/+ Unknown c.5237G>A p.R1746Q -
+/+ Unknown c.5363C>T p.P1788L -
?/-? Unknown c.5411G>A p.R1804Q rs3802711
?/? Unknown c.5418C>G p.D1806E -
+/+ Unknown c.5536G>A p.D1846N -
?/? Unknown c.5650G>A p.A1884T -
+/+ Unknown c.5663T>C p.F1888S -
+/+ Unknown c.5734C>T p.R1912W -
+/+ Unknown c.5788G>A p.D1930N -
?/? Unknown c.5996C>G p.T1999S -
+/+ Unknown c.6049G>A p.G2017S -
+/+ Unknown c.6085C>T p.R2029W -
?/? Unknown c.6130G>A p.E2044K -
+/+ Unknown c.6133G>A p.D2045N -
?/? Unknown c.6275C>T p.T2092I -
+/+ Unknown c.6307G>T p.E2103X -
+/+ Unknown c.6319C>T p.R2107X -
+/+ Unknown c.6337C>T p.Q2113X -
?/+ Unknown c.6401_6404delGAGA p.R2134SfsX9 -
+/+ Unknown c.6442G>A p.D2148N -
+/+ Unknown c.6604G>A p.D2202N -
?/? Unknown c.6847G>A p.V2283I -
?/? Unknown c.7073G>A p.F2358Q -
+/+ Unknown c.7127A>T p.D2376V -
-?/- Unknown c.7139C>T p.P2380L rs4747195
+/+ Unknown c.7393C>T p.R2465W -
?/? Unknown c.7468G>A p.E2490K -
+/+ Unknown c.7549A>G p.S2517G -
?/? Unknown c.7572G>A p.A2524A -
+/+ Unknown c.7589C>T p.T2530I -
?/? Unknown c.7630T>C p.L2544L -
+/+ Unknown c.7660G>T p.E2554X -
?/? Unknown c.7762G>C p.E2588Q -
+/+ Unknown c.7823G>A p.R2608H -
+/+? Unknown c.8064+2T>C - -
+/+ Unknown c.8230G>A p.G2744S -
+/+ Unknown c.8311G>A p.G2771S -
+/+ Unknown c.8497C>G p.R2833G -
+/+ Unknown c.8849T>A p.I2950N -
+/+ Unknown c.8866C>T p.R2956C -
+/+ Unknown c.8903T>C p.V2968A -
?/? Unknown c.9175C>A p.P3059T -
+/+ Unknown c.9175C>A p.P3059T -
+/+ Unknown c.9524G>A p.R3175H -
+/+ Unknown c.9565C>T p.R3189W -
?/? Unknown c.9565C>T p.R3189W -
?/? Unknown c.9728C>T p.S3243F -
+/+ Unknown c.9734C>T p.S3245F -
?/? Unknown c.9873G>A p.T3291T -

9 entries in CLRN1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.118T>G p.C40G -
+/+ Unknown c.144T>G p.N48K -
+/+ Unknown c.161T>C p.L54P -
+/+ Unknown c.189C>A p.Y63X -
+/+ Unknown c.313T>C p.S105P -
+/+ Unknown c.359T>A p.M120K -
+/+ Unknown c.368C>A p.A123D -
+/+ Unknown c.449T>C p.L150P -
+/+ Unknown c.528T>G p.Y176X -

2 entries in DFNB31

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.307C>T p.Q103X -
+/+ Unknown c.2332C>T p.R778X -

71 entries in ELANE

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
Variant remarks Descending
Ascending
+/+ Unknown c.1A>G p.M1V - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.90T>G p.I30M - Lund (2009) Br J Haematol 147:587
+/+ Unknown c.125C>T p.P42L - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.129C>A p.F43L - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.131T>G p.M44R - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.133G>A p.V45M - Horwitz (2007) Blood 109:1817
+/+ Unknown c.137C>G p.S46C - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.137C>T p.S46F - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.140T>C p.L47P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.157C>T p.H53Y - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.158A>T p.H53L - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.164G>A p.C55Y - Ancliff (2001) Blood 98:2645
+/+ Unknown c.166G>C p.G56R - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.169G>A p.A57T - Dale (2000) Blood 96:2317
+/+ Unknown c.170C>T p.A57V - Lee (2009) Ann Hematol 88:593
+/+ Unknown c.179T>C p.I60T - Dale (2000) Blood 96:2317
+/+ Unknown c.182C>T p.A61V - Horwitz (1999) Nat Genet 23:433
+/+ Unknown c.193G>T p.V65F - Xia (2008) Curr Opin Hematol 15:1
+/+ Unknown c.194T>A p.V65D - Lund (2009) Br J Haematol 147:587
+/+ Unknown c.197T>G p.M66R - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.211T>A p.C71S - Dale (2000) Blood 96:2317
+/+ Unknown c.211T>C p.C71R - Ancliff (2002) Blood 100:707
+/+ Unknown c.233G>A p.R78H - Schofelder (2007) Pharmacogenet Genomics 17:629
+/+ Unknown c.242G>C p.R81P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.244G>A p.V82M - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.248T>A p.V83D - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.251T>C p.L84P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.253G>A p.G85R - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.253G>C p.G85R - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.254G>A p.G85E - Ancliff (2001) Blood 98:2645
+/+ Unknown c.292G>A p.V98M - Lanciotti (2009) Br J Haematol 146:578
+/+ Unknown c.301G>A p.V101M - Dale (2000) Blood 96:2317
+/+ Unknown c.308G>C p.R103P - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.308G>T p.R103L - Xia (2008) Curr Opin Hematol 15:1
+/+ Unknown c.362T>A p.L121H - Carlsson (2006) Haematologica 91:589
+/+ Unknown c.362T>C p.L121P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.377C>G p.S126W - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.377C>T p.S126L - Dale (2000) Blood 96:2317
+/+ Unknown c.379G>C p.A127P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.383C>T p.T128I - Xia (2008) Curr Opin Hematol 15:1
+/+ Unknown c.416C>T p.P139L - Dale (2000) Blood 96:2317
+/+ Unknown c.451T>A p.C151S - Ancliff (2001) Blood 98:2645
+/+ Unknown c.452G>A p.C151Y - Germeshausen (2001) Br J Haematol 115:222
+/+ Unknown c.455T>C p.L152P - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.515T>C p.L172P - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.556G>A p.V186I - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.561C>A p.C187X - Horwitz (2007) Blood 109:1817
+/+ Unknown c.573G>T p.R191S - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.578G>A p.R193Q - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.607G>C p.G203R - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.607G>T p.G203C - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.614C>G p.P205R - Ancliff (2001) Blood 98:2645
+/+ Unknown c.618G>T p.L206F - Horwitz (1999) Nat Genet 23:433
+/+ Unknown c.622T>C p.C208R - Horwitz (2007) Blood 109:1817
+/+ Unknown c.624C>A p.C208X - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.628G>T p.G210W - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.629G>T p.G210V - Dale (2000) Blood 96:2317
+/+ Unknown c.640G>A p.G214R - Dale (2000) Blood 96:2317
+/+ Unknown c.640G>T p.G214X - Xia (2009) Br J Haematol 147:535
+/+ Unknown c.655G>A p.V219I - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.659G>A p.R220Q - Horwitz (1999) Nat Genet 23:433
+/+ Unknown c.661G>T p.G221X - Dale (2000) Blood 96:2317
+/+ Unknown c.669C>A p.C223X - Bellanne-Chantelot (2004) Blood 103:4119
+/+ Unknown c.674C>A p.S225X - Dale (2000) Blood 96:2317
+/+ Unknown c.684C>A p.Y228X - Dale (2000) Blood 96:2317
+/+ Unknown c.697G>C p.A233P - Smith (2009) Br J Haematol 144:762
+/+ Unknown c.723G>A p.W241X - Shiohara (2009) J Pediatr Hematol Oncol 31:319
+/+ Unknown c.751G>T p.D251Y - Schofelder (2007) Pharmacogenet Genomics 17:629
+/+ Unknown c.770C>T p.P257L - Xia (2008) Curr Opin Hematol 15:1
+/+ Unknown c.784C>T p.P262S - Horwitz (2007) Blood 109:1817
+/+ Unknown c.785C>T p.P262L - Bellanne-Chantelot (2004) Blood 103:4119

39 entries in FAS

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.82A>G p.T28A -
+/+ Unknown c.103T>C p.L35L -
+/+ Unknown c.139C>T p.Q47X -
+/+ Unknown c.219C>A p.C73X -
+/+ Unknown c.222A>G p.T74T -
+/+ Unknown c.235G>T p.E79X -
+/+ Unknown c.244T>C p.C82R -
+/+ Unknown c.332A>C p.H111P -
+/+ Unknown c.361C>T p.R121W -
+/+ Unknown c.580G>A p.E194K -
+/+ Unknown c.642C>T p.T214T -
+/+ Unknown c.695A>G p.Y232C -
+/+ Unknown c.721A>C p.T241P -
+/+ Unknown c.722C>A p.T241K -
+/+ Unknown c.745G>C p.V249L -
+/+ Unknown c.748C>T p.R250X -
+/+ Unknown c.749G>A p.R250Q -
+/+ Unknown c.749G>C p.R250P -
+/+ Unknown c.749G>T p.R250L -
+/+ Unknown c.757G>A p.G253S -
+/+ Unknown c.758G>A p.G253D -
+/+ Unknown c.770C>A p.A257D -
+/+ Unknown c.776T>C p.I259T -
+/+ Unknown c.776T>G p.I259R -
+/+ Unknown c.778G>A p.D260N -
+/+ Unknown c.778G>C p.D260H -
+/+ Unknown c.778G>T p.D260Y -
+/+ Unknown c.779A>G p.D260G -
+/+ Unknown c.779A>T p.D260V -
+/+ Unknown c.785T>G p.I262S -
+/+ Unknown c.809C>A p.T270K -
+/+ Unknown c.809C>T p.T270I -
+/+ Unknown c.814G>A p.E272K -
+/+ Unknown c.815A>G p.E272G -
+/+ Unknown c.817C>T p.Q273X -
+/+ Unknown c.819G>C p.Q273H -
+/+ Unknown c.826C>T p.Q276X -
+/+ Unknown c.851T>C p.L284P -
+/+ Unknown c.929T>G p.I310S -

18 entries in FOXP3

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.2T>C p.M1T -
+/+ Unknown c.3G>A p.M1I -
+/+ Unknown c.210G>T p.Q70H -
+/+ Unknown c.323C>T p.T108M -
+/+ Unknown c.560C>T p.P187L -
+/+ Unknown c.725T>C p.L242P -
+/+ Unknown c.1015C>G p.P339A -
+/+ Unknown c.1040G>A p.R347H -
+/+ Unknown c.1087A>G p.I363V -
+/+ Unknown c.1099T>C p.F367L -
+/+ Unknown c.1100T>G p.F367C -
+/+ Unknown c.1112T>G p.F371C -
+/+ Unknown c.1117T>G p.F373V -
+/+ Unknown c.1121T>G p.F374C -
+/+ Unknown c.1139C>T p.T380I -
+/+ Unknown c.1150G>A p.A384T -
+/+ Unknown c.1169G>A p.S390N -
+/+ Unknown c.1189C>T p.R397W -

174 entries in GAA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
Variant remarks Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.3G>A p.M1I Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.118C>T p.R40X Reuser (1995) Muscle Nerve 3S3:S61 -
+/+ Unknown c.136T>C p.S46P Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.172C>T p.Q58X Huie (1999) Am J Med Genet 85:5 -
+/? Unknown c.271G>A p.D91N Löscher WN J Neurol. 2018 Gutiérrez-Rivas Neuromuscul Disord. 2015 -
+/+ Unknown c.307T>G p.C103G Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.309C>A p.C103X Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.343C>T p.Q115X Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.377G>A p.W126X Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.399C>A p.Y133X Montalvo (2004) Mol Genet Metab 81:203 -
+/+ Unknown c.421C>A p.L141M Wan (2008) J Neurol 255:831 -
+/+ Unknown c.461G>C p.R154P Nascimbeni (2008) Neurology 70:617 -
+/+ Unknown c.506T>C p.L169P Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.569G>A p.R190H Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.572A>G p.Y191C Pittis (2008) Hum Mutat 29:E27 -
+/+ Unknown c.573C>A p.Y191X Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
+/+ Unknown c.623T>C p.L208P Laforet (2000) Neurology 55:1122 -
+/+ Unknown c.634G>T p.E212X Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.650C>T p.P217L Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.655G>A p.G219R Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
+/+ Unknown c.670C>T p.R224W Pittis (2003) Am J Med Genet 121A:225 -
+/+ Unknown c.710C>T p.A237V Anneser (2005) Neurology 64:368 -
+/+ Unknown c.725C>T p.A242V Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.743T>C p.L248P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.776G>T p.G259V Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.784G>A p.E262K Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
+/+ Unknown c.796C>T p.P266S Park (2006) J Neurol Sci 251:113 -
+/+ Unknown c.853C>T p.P285S Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.854C>G p.P285R Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.871C>T p.L291F Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.872T>A p.L291H Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.872T>C p.L291P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.875A>G p.Y292C Castro-Gago (1999) Rev Neurol 29:46 -
+/+ Unknown c.877G>A p.G293R Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.893A>C p.Y298S Wan (2008) J Neurol 255:831 -
+/+ Unknown c.896T>C p.L299P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.896T>G p.L299R Boerkoel (1995) Am J Hum Genet 56:887 -
+/+ Unknown c.923A>C p.H308P Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.923A>T p.H308L Laforet (2000) Neurology 55:1122 -
+/+ Unknown c.925G>A p.G309R Kroos (1998) Clin Genet 53:379 -
+/+ Unknown c.935T>G p.L312R Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.953T>A p.M318K Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.953T>C p.M318T Zhong (1991) Am J Hum Genet 49:635 -
+/+ Unknown c.971C>T p.P324L Laforet (2000) Neurology 55:1122 -
+/+ Unknown c.988T>G p.W330G Dou (2006) Clin Chim Acta 374:145 -
+/+ Unknown c.989G>A p.W330X Pittis (2003) Am J Med Genet 121A:225 -
+/+ Unknown c.1003G>A p.G335R Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1040C>G p.P347R Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1062C>G p.Y354X Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1064T>C p.L355P Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1075G>T p.G359X Kishnani (2010) Mol Genet Metab 99:26 -
+/+ Unknown c.1082C>T p.P361L Lam (2003) Neurology 60:715 -
+/+ Unknown c.1099T>C p.W367R Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.1100G>A p.W367X McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.1115A>T p.H372L Van den Hout (2004) Pediatrics 113:e448 -
+/+ Unknown c.1120T>C p.C374R Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1124G>T p.R375L Pittis (2008) Hum Mutat 29:E27 -
+/+ Unknown c.1129G>C p.G377R Kishnani (2006) J Pediatr 149:89 -
+/+ Unknown c.1134C>G p.Y378X Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1202A>G p.Q401R Pittis (2008) Hum Mutat 29:E27 -
+/+ Unknown c.1210G>A p.D404N Amartino (2006) Clin Genet 69:187 -
+/+ Unknown c.1214T>C p.L405P Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1222A>G p.M408V Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
+/+ Unknown c.1239C>G p.D413E Dlamini (2008) Neuromuscul Disord 18:408 -
+/+ Unknown c.1309C>T p.R437C Lam (2003) Neurology 60:715 -
+/+ Unknown c.1316T>A p.M439K Park (2006) J Neurol Sci 251:113 -
+/+ Unknown c.1333G>C p.A445P Montalvo (2006) Hum Mutat 27:999 -
+/+ Unknown c.1364A>G p.Y455C Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.1364A>T p.Y455F Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1370C>T p.P457L Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1375G>A p.D459N Wan (2008) J Neurol 255:831 -
+/+ Unknown c.1381G>A p.G461S Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1396G>T p.V466F Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1397T>G p.V466G Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.1432G>A p.G478R Reuser (1995) Muscle Nerve 3S3:S61 -
+/+ Unknown c.1437G>C p.K479N Wan (2008) J Neurol 255:831 -
+/+ Unknown c.1441T>C p.W481R Raben (1998) Hum Mutat 13:83 -
+/+ Unknown c.1445C>G p.P482R Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1445C>T p.P482L Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.1447G>A p.G483R Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1448G>T p.G483V Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1456G>C p.A486P Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.1460T>C p.F487S Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1465G>A p.D489N Montalvo (2006) Hum Mutat 27:999 -
+/+ Unknown c.1493G>A p.W498X Kishnani (2010) Mol Genet Metab 99:26 -
+/+ Unknown c.1496G>A p.W499X Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1497G>A p.W499X Laforet (2000) Neurology 55:1122 -
+/+ Unknown c.1540G>C p.G514R McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.1548G>A p.W516X Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1555A>G p.M519V Huie (1994) Hum Mutat 4:291 -
+/+ Unknown c.1556T>C p.M519T Reuser (1995) Muscle Nerve 3S3:S61 -
+/+ Unknown c.1561G>A p.E521K Hermans (1991) Biochem Biophys Res Commun 179:919 -
+/+ Unknown c.1561G>C p.E521Q Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1564C>A p.P522T McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.1564C>G p.P522A Muller-Felber (2007) Neuromuscul Disord 17:698 -
+/+ Unknown c.1564C>T p.P522S Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1634C>T p.P545L Hermans (1994) Hum Mol Genet 3:2213 -
+/+ Unknown c.1645G>A p.G549R Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1645G>C p.G549R Montalvo (2006) Hum Mutat 27:999 -
+/+ Unknown c.1655T>C p.L552P Raben (2002) Curr Mol Med 2:145 -
+/+ Unknown c.1687C>T p.Q563X Raben (2002) Curr Mol Med 2:145 -
+/+ Unknown c.1696T>C p.S566P Hermans (1998) Hum Mutat 11:209 -
+/+ Unknown c.1703A>T p.H568L Sharma (2005) Acta Neuropathol 110:151 -
+/+ Unknown c.1710C>G p.N570K Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1716C>G p.H572Q Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1717A>C p.N573H Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1724A>C p.Y575S Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1725C>A p.Y575X Korpela (2009) Muscle Nerve 40:143 -
+/+ Unknown c.1727G>A p.G576D Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1735G>A p.E579K Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1748C>T p.S583F Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1754G>A p.R585K Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1754G>T p.R585M Laforet (2000) Neurology 55:1122 -
+/+ Unknown c.1781G>C p.R594P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1796C>A p.S599Y Pittis (2008) Hum Mutat 29:E27 -
+/+ Unknown c.1798C>T p.R600C Tsujino (2000) Neuromuscul Disord 10:599 -
+/+ Unknown c.1799G>A p.R600H Ko (1999) Hum Mutat 13:380 -
+/+ Unknown c.1799G>T p.R600L McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.1802C>G p.S601W Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.1820G>A p.G607D Hermans (2004) Hum Mutat 23:47 -
+/+ Unknown c.1822C>T p.R608X Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1829C>T p.A610V Muller-Felber (2007) Neuromuscul Disord 17:698 -
+/+ Unknown c.1834C>T p.H612Y Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.1836C>G p.H612Q Montalvo (2006) Hum Mutat 27:999 -
+/+ Unknown c.1841C>A p.T614K Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.1843G>A p.G615R Ko (1999) Hum Mutat 13:380 -
+/+ Unknown c.1844G>A p.G615E Sharma (2005) Acta Neuropathol 110:151 -
+/+ Unknown c.1856G>A p.S619N Kroos (2006) J Inherit Metab Dis 29:556 -
+/+ Unknown c.1857C>G p.S619R Pipo (2003) Pediatr Neurol 29:284 -
+/+ Unknown c.1905C>A p.N635K Oba-Shinjo (2009) J Neurol 256:1881 -
+/+ Unknown c.1912G>T p.G638W Vorgerd (1998) Neurogenetics 1:205 -
+/+ Unknown c.1913G>T p.G638V Van den Hout (2004) Pediatrics 113:e448 -
+/+ Unknown c.1927G>A p.G643R Hermans (1993) Hum Mutat 2:268 -
+/+ Unknown c.1930G>C p.A644P Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.1933G>A p.D645N Huie (1998) Biochem Biophys Res Commun 244:921 -
+/+ Unknown c.1933G>C p.D645H Lin (1995) Biochem Biophys Res Commun 208:886 -
+/+ Unknown c.1933G>T p.D645Y Gort (2007) Mol Genet Metab 92:183 -
+/+ Unknown c.1935C>A p.D645E Hermans (1993) Biochem J 289:687 -
+/+ Unknown c.1941C>G p.C647W Huie (1994) Hum Mol Genet 3:1081 -
+/+ Unknown c.1942G>A p.G648S Huie (1998) Biochem Biophys Res Commun 244:921 -
+/+ Unknown c.1960T>C p.S654P Wan (2008) J Neurol 255:831 -
+/+ Unknown c.1978C>T p.R660C Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.1979G>A p.R660H Pipo (2003) Pediatr Neurol 29:284 -
+/+ Unknown c.1981T>G p.W661G Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2012T>G p.M671R Kishnani (2006) J Pediatr 149:89 -
+/+ Unknown c.2014C>T p.R672W Huie (1998) Biochem Biophys Res Commun 244:921 -
+/+ Unknown c.2015G>A p.R672Q Huie (1998) Biochem Biophys Res Commun 244:921 -
+/+ Unknown c.2055C>A p.Y685X Muller-Felber (2007) Neuromuscul Disord 17:698 -
+/+ Unknown c.2104C>T p.R702C Montalvo (2004) Mol Genet Metab 81:203 -
+/+ Unknown c.2105G>A p.R702H Qiu (2007) Zhonghua Er Ke Za Zhi 45:760 -
+/+ Unknown c.2132C>G p.T711R Qiu (2007) Zhonghua Er Ke Za Zhi 45:760 -
+/+ Unknown c.2135T>C p.L712P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2167G>A p.V723M Qiu (2007) Zhonghua Er Ke Za Zhi 45:760 -
+/+ Unknown c.2173C>T p.R725W Hermans (1993) Hum Mutat 2:268 -
+/+ Unknown c.2174G>C p.R725P Wan (2008) J Neurol 255:831 -
+/+ Unknown c.2188G>T p.E730X Pittis (2003) Am J Med Genet 121A:225 -
+/+ Unknown c.2210C>A p.T737N Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2227C>T p.Q743X Nascimbeni (2008) Neurology 70:617 -
+/+ Unknown c.2228A>G p.Q743R Dlamini (2008) Neuromuscul Disord 18:408 -
+/+ Unknown c.2237G>A p.W746X Beesley (1997) Hum Mutat 11:413 -
+/+ Unknown c.2237G>C p.W746S Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2238G>A p.W746X Kishnani (2006) J Pediatr 149:89 -
+/+ Unknown c.2238G>C p.W746C Wan (2008) J Neurol 255:831 -
+/+ Unknown c.2269C>T p.Q757X McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.2303C>G p.P768R Reuser (1995) Muscle Nerve 3S3:S61 -
+/+ Unknown c.2314T>A p.W772R Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2314T>C p.W772R van der Beek (2008) J Neurol Sci 275:46 -
+/+ Unknown c.2560C>T p.R854X Hermans (1993) Biochem J 289:687 -
+/+ Unknown c.2608C>T p.R870X Palmer (2007) Neuromuscul Disord 17:16 -
+/+ Unknown c.2639C>A p.A880D van den Hout (2003) Pediatrics 112:332 -
+/+ Unknown c.2662G>T p.E888X McCready (2007) Mol Genet Metab 92:325 -
+/+ Unknown c.2702T>A p.L901Q Kroos (2004) Neuromuscul Disord 14:371 -
+/+ Unknown c.2804T>C p.L935P Kroos (2008) Hum Mutat 29:E13 -
+/+ Unknown c.2846T>A p.V949D Becker (1998) Am J Hum Genet 62:991 -

256 entries in GBA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.38A>G p.K31R -
+/+ Unknown c.108G>A p.W36X -
+/+ Unknown c.136A>G p.K46E -
+/+ Unknown c.145G>A p.G49S -
+/+ Unknown c.152G>T p.S51I -
+/+ Unknown c.160G>A p.V54M -
+/+ Unknown c.160G>C p.V54L -
+/+ Unknown c.164G>C p.C55S -
+/+ Unknown c.187G>A p.D63N -
+/+ Unknown c.220G>A p.G74S -
+/+ Unknown c.226T>G p.F76V -
+/+ Unknown c.238G>A p.E80K -
+/+ Unknown c.242G>A p.S81N -
+/+ Unknown c.245C>T p.T82I -
+/+ Unknown c.254G>A p.G85E -
+/+ Unknown c.256C>T p.R86X -
+/+ Unknown c.259C>T p.R87W -
+/+ Unknown c.260G>A p.R87Q -
+/+ Unknown c.314T>C p.L105P -
+/+ Unknown c.334C>T p.Q112X -
+/+ Unknown c.337A>T p.K113X -
+/+ Unknown c.350T>C p.V117A -
+/+ Unknown c.354G>C p.K118N -
+/+ Unknown c.371T>C p.M124T -
+/+ Unknown c.385G>A p.A129T -
+/+ Unknown c.431T>G p.L144R -
+/+ Unknown c.437C>T p.S146L -
+/+ Unknown c.440A>G p.Y147C -
+/+ Unknown c.442T>G p.F148V -
+/+ Unknown c.448G>A p.E150K -
+/+ Unknown c.455G>A p.G152E -
+/+ Unknown c.466A>G p.N156D -
+/+ Unknown c.473T>C p.I158T -
+/+ Unknown c.473T>G p.I158S -
+/+ Unknown c.475C>T p.R159W -
+/+ Unknown c.476G>A p.R159Q -
+/+ Unknown c.479T>C p.V160A -
+/+ Unknown c.481C>T p.P161S -
+/+ Unknown c.482C>T p.P161L -
+/+ Unknown c.484A>G p.M162V -
+/+ Unknown c.485T>C p.M162T -
+/+ Unknown c.497A>T p.D166V -
+/+ Unknown c.508C>A p.R170S -
+/+ Unknown c.508C>T p.R170C -
+/+ Unknown c.509G>T p.R170L -
+/+ Unknown c.517A>C p.T173P -
+/+ Unknown c.518C>T p.T173I -
+/+ Unknown c.522T>G p.Y174X -
+/+ Unknown c.524C>A p.A175E -
+/+ Unknown c.535G>C p.D179H -
+/+ Unknown c.572A>C p.E191A -
+/+ Unknown c.586A>C p.K196Q -
+/+ Unknown c.588G>T p.K196N -
+/+ Unknown c.592C>A p.P198T -
+/+ Unknown c.593C>T p.P198L -
+/+ Unknown c.599T>A p.I200N -
+/+ Unknown c.599T>G p.I200S -
+/+ Unknown c.602A>C p.H201P -
+/+ Unknown c.604C>T p.R202X -
+/+ Unknown c.605G>A p.R202Q -
+/+ Unknown c.622C>T p.Q208X -
+/+ Unknown c.625C>T p.R209C -
+/+ Unknown c.626G>C p.R209P -
+/+ Unknown c.635C>G p.S212X -
+/+ Unknown c.637C>T p.L213F -
+/+ Unknown c.638T>C p.L213P -
+/+ Unknown c.644C>A p.A215D -
+/+ Unknown c.649C>T p.P217S -
+/+ Unknown c.653G>A p.W218X -
+/+ Unknown c.655A>C p.T219P -
+/+ Unknown c.661C>A p.P221T -
+/+ Unknown c.662C>T p.P221L -
+/+ Unknown c.667T>C p.W223R -
+/+ Unknown c.670C>T p.L224F -
+/+ Unknown c.680A>G p.N227S -
+/+ Unknown c.681T>G p.N227K -
+/+ Unknown c.683G>T p.G228V -
+/+ Unknown c.685G>A p.A229T -
+/+ Unknown c.686C>A p.A229E -
+/+ Unknown c.689T>A p.V230E -
+/+ Unknown c.689T>G p.V230G -
+/+ Unknown c.694G>T p.G232W -
+/+ Unknown c.695G>A p.G232E -
+/+ Unknown c.700G>T p.G234W -
+/+ Unknown c.701G>A p.G234E -
+/+ Unknown c.703T>C p.S235P -
+/+ Unknown c.706C>T p.L236F -
+/+ Unknown c.707T>C p.L236P -
+/+ Unknown c.709A>G p.K237E -
+/+ Unknown c.710A>C p.K237T -
+/+ Unknown c.721G>A p.G241R -
+/+ Unknown c.722G>A p.G241E -
+/+ Unknown c.731A>G p.Y244C -
+/+ Unknown c.742T>C p.W248R -
+/+ Unknown c.746C>T p.A249V -
+/+ Unknown c.751T>C p.Y251H -
+/+ Unknown c.754T>A p.F252I -
+/+ Unknown c.755T>G p.F252C -
+/+ Unknown c.763T>G p.F255V -
+/+ Unknown c.764T>A p.F255Y -
+/+ Unknown c.776A>G p.Y259C -
+/+ Unknown c.809C>G p.T270R -
+/+ Unknown c.814G>T p.E272X -
+/+ Unknown c.816A>C p.E272D -
+/+ Unknown c.823C>A p.P275T -
+/+ Unknown c.826T>C p.S276P -
+/+ Unknown c.833G>T p.G278V -
+/+ Unknown c.845G>T p.G282V -
+/+ Unknown c.847T>C p.Y283H -
+/+ Unknown c.851C>A p.P284H -
+/+ Unknown c.863T>A p.L288Q -
+/+ Unknown c.870C>A p.F290L -
+/+ Unknown c.882T>G p.H294Q -
+/+ Unknown c.886C>T p.R296X -
+/+ Unknown c.887G>A p.R296Q -
+/+ Unknown c.894C>A p.F298L -
+/+ Unknown c.896T>C p.I299T -
+/+ Unknown c.902G>A p.R301H -
+/+ Unknown c.911G>A p.G304D -
+/+ Unknown c.913C>G p.P305A -
+/+ Unknown c.914C>G p.P305R -
+/+ Unknown c.914C>T p.P305L -
+/+ Unknown c.928A>G p.S310G -
+/+ Unknown c.929G>A p.S310N -
+/+ Unknown c.953T>C p.L318P -
+/+ Unknown c.970C>T p.R324C -
+/+ Unknown c.971G>A p.R324H -
+/+ Unknown c.980T>C p.L327P -
+/+ Unknown c.983C>T p.P328L -
+/+ Unknown c.1003C>G p.L335V -
+/+ Unknown c.1003C>T p.L335L -
+/+ Unknown c.1025A>T p.K342I -
+/+ Unknown c.1028A>G p.Y343C -
+/+ Unknown c.1029T>G p.Y343X -
+/+ Unknown c.1030G>C p.V344L -
+/+ Unknown c.1043C>T p.A348V -
+/+ Unknown c.1049A>G p.H350R -
+/+ Unknown c.1051T>C p.W351R -
+/+ Unknown c.1053G>T p.W351C -
+/+ Unknown c.1054T>C p.Y352H -
+/+ Unknown c.1060G>C p.D354H -
+/+ Unknown c.1070C>A p.A357D -
+/+ Unknown c.1072C>G p.P358A -
+/+ Unknown c.1072C>T p.P358S -
+/+ Unknown c.1085C>T p.T362I -
+/+ Unknown c.1088T>A p.L363Q -
+/+ Unknown c.1088T>C p.L363P -
+/+ Unknown c.1090G>A p.G364R -
+/+ Unknown c.1090G>T p.G364W -
+/+ Unknown c.1093G>A p.E365K -
+/+ Unknown c.1102C>T p.R368C -
+/+ Unknown c.1109T>C p.F370S -
+/+ Unknown c.1124T>C p.L375P -
+/+ Unknown c.1138G>A p.A380T -
+/+ Unknown c.1141T>C p.C381R -
+/+ Unknown c.1141T>G p.C381G -
+/+ Unknown c.1142G>A p.C381Y -
+/+ Unknown c.1159T>G p.W387G -
+/+ Unknown c.1162G>A p.E388K -
+/+ Unknown c.1165C>T p.Q389X -
+/+ Unknown c.1171G>A p.V391M -
+/+ Unknown c.1171G>C p.V391L -
+/+ Unknown c.1174C>G p.R392G -
+/+ Unknown c.1174C>T p.R392W -
+/+ Unknown c.1181G>A p.G394D -
+/+ Unknown c.1184C>T p.S395F -
+/+ Unknown c.1187G>A p.W396X -
+/+ Unknown c.1188G>C p.W396C -
+/+ Unknown c.1192C>T p.R398X -
+/+ Unknown c.1193G>A p.R398Q -
+/+ Unknown c.1200G>A p.M400I -
+/+ Unknown c.1205A>G p.Y402C -
+/+ Unknown c.1207A>C p.S403R -
+/+ Unknown c.1208G>A p.S403N -
+/+ Unknown c.1208G>C p.S403T -
+/+ Unknown c.1213A>G p.S405G -
+/+ Unknown c.1214G>A p.S405N -
+/+ Unknown c.1214G>C p.S405T -
+/+ Unknown c.1223C>T p.T408M -
+/+ Unknown c.1226A>G p.N409S -
+/+ Unknown c.1227C>A p.N409K -
+/+ Unknown c.1228C>G p.L410V -
+/+ Unknown c.1240G>T p.V414L -
+/+ Unknown c.1246G>A p.G416S -
+/+ Unknown c.1249T>G p.W417G -
+/+ Unknown c.1250G>A p.W417X -
+/+ Unknown c.1255G>A p.D419N -
+/+ Unknown c.1255G>C p.D419H -
+/+ Unknown c.1255G>T p.D419Y -
+/+ Unknown c.1256A>C p.D419A -
+/+ Unknown c.1259G>A p.W420X -
+/+ Unknown c.1263C>A p.N421K -
+/+ Unknown c.1265T>G p.L422R -
+/+ Unknown c.1268C>A p.A423D -
+/+ Unknown c.1271T>C p.L424P -
+/+ Unknown c.1277C>T p.P426L -
+/+ Unknown c.1279G>T p.E427X -
+/+ Unknown c.1283G>A p.G428E -
+/+ Unknown c.1285G>A p.G429R -
+/+ Unknown c.1289C>T p.P430L -
+/+ Unknown c.1292A>T p.N431I -
+/+ Unknown c.1294T>A p.W432R -
+/+ Unknown c.1295G>T p.W432L -
+/+ Unknown c.1297G>T p.V433L -
+/+ Unknown c.1300C>T p.R434C -
+/+ Unknown c.1301G>C p.R434P -
+/+ Unknown c.1304A>C p.N435T -
+/+ Unknown c.1307T>C p.F436S -
+/+ Unknown c.1309G>A p.V437I -
+/+ Unknown c.1309G>C p.V437L -
+/+ Unknown c.1309G>T p.V437F -
+/+ Unknown c.1312G>A p.D438N -
+/+ Unknown c.1312G>T p.D438Y -
+/+ Unknown c.1319C>T p.P440L -
+/+ Unknown c.1321A>T p.I441F -
+/+ Unknown c.1322T>C p.I441T -
+/+ Unknown c.1331A>T p.D444V -
+/+ Unknown c.1342G>C p.D448H -
+/+ Unknown c.1343A>G p.D448G -
+/+ Unknown c.1343A>T p.D448V -
+/+ Unknown c.1348T>A p.F450I -
+/+ Unknown c.1351T>C p.Y451H -
+/+ Unknown c.1354A>C p.K452Q -
+/+ Unknown c.1357C>T p.Q453X -
+/+ Unknown c.1358A>G p.Q453R -
+/+ Unknown c.1361C>G p.P454R -
+/+ Unknown c.1363A>G p.M455V -
+/+ Unknown c.1366T>G p.F456V -
+/+ Unknown c.1370A>G p.Y457C -
+/+ Unknown c.1379G>A p.G460D -
+/+ Unknown c.1390A>G p.K464E -
+/+ Unknown c.1393T>G p.F465V -
+/+ Unknown c.1414A>G p.R472G -
+/+ Unknown c.1416A>T p.R472S -
+/+ Unknown c.1444G>A p.D482N -
+/+ Unknown c.1448T>C p.L483P -
+/+ Unknown c.1448T>G p.L483R -
+/+ Unknown c.1453G>C p.A485P -
+/+ Unknown c.1469A>G p.H490R -
+/+ Unknown c.1483G>C p.A495P -
+/+ Unknown c.1495G>A p.V499M -
+/+ Unknown c.1499T>C p.L500P -
+/+ Unknown c.1502A>G p.N501S -
+/+ Unknown c.1503C>G p.N501K -
+/+ Unknown c.1504C>T p.R502C -
+/+ Unknown c.1505G>A p.R502H -
+/+ Unknown c.1505G>C p.R502P -
+/+ Unknown c.1537G>T p.D513Y -
+/+ Unknown c.1549G>A p.G517S -
+/+ Unknown c.1556T>C p.L519P -
+/+ Unknown c.1579T>C p.S527P -
+/+ Unknown c.1583T>C p.I528T -
+/+ Unknown c.1589C>T p.T530I -
+/+ Unknown c.1603C>T p.R535C -
+/+ Unknown c.1604G>A p.R535H -
+/+ Unknown c.1607A>G p.Q536R -

219 entries in GJB2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.1A>G p.M1V -
+/+ Unknown c.9G>A p.W3X -
+?/- Unknown c.11G>A p.G4D -
+/+ Unknown c.17T>C p.L6P -
+/+ Unknown c.19C>T p.Q7X -
+/+ Unknown c.23C>T p.T8M -
+/+ Unknown c.29T>C p.L10P -
+/+ Unknown c.34G>C p.G12R -
+/+ Unknown c.34G>T p.G12C -
+?/+ Unknown c.35delG - -
+/+ Unknown c.35G>A p.G12D -
+/+ Unknown c.35G>T p.G12V -
+/+ Unknown c.37G>A p.V13M -
+/+ Unknown c.40A>G p.N14D -
+/+ Unknown c.40A>T p.N14Y -
+/+ Unknown c.42C>G p.N14K -
+/+ Unknown c.44A>C p.K15T -
+/+ Unknown c.47A>G p.H16R -
+/+ Unknown c.50C>A p.S17Y -
+/+ Unknown c.50C>T p.S17F -
+/+ Unknown c.53C>T p.T18I -
+/+ Unknown c.56G>C p.S19T -
+/+ Unknown c.59T>C p.I20T -
+/+ Unknown c.60T>G p.I20M -
+/+ Unknown c.71G>A p.W24X -
+/+ Unknown c.79G>A p.V27I -
+/+ Unknown c.88A>G p.I30V -
+/+ Unknown c.89T>A p.I30N -
+/+ Unknown c.91T>A p.F31I -
+/+ Unknown c.94C>T p.R32C -
+/+ Unknown c.95G>A p.R32H -
+/+ Unknown c.95G>T p.R32L -
+/+ Unknown c.98T>C p.I33T -
+/+ Unknown c.100A>G p.M34V -
+/+ Unknown c.100A>T p.M34L -
+/+ Unknown c.101T>C p.M34T -
+/+ Unknown c.101T>G p.M34R -
+/+ Unknown c.102G>A p.M34I -
+/+ Unknown c.104T>G p.I35S -
+/+ Unknown c.107T>C p.L36P -
+/+ Unknown c.109G>A p.V37I -
+/+ Unknown c.109G>C p.V37L -
+/+ Unknown c.110T>C p.V37A -
+/+ Unknown c.119C>A p.A40E -
+/+ Unknown c.119C>G p.A40G -
+/+ Unknown c.119C>T p.A40V -
+/+ Unknown c.124G>A p.E42K -
+/+ Unknown c.127G>A p.V43M -
+/+ Unknown c.131G>A p.W44X -
+/+ Unknown c.131G>C p.W44S -
+/+ Unknown c.132G>A p.W44X -
+/+ Unknown c.132G>C p.W44C -
+/+ Unknown c.134G>A p.G45E -
+/+ Unknown c.138T>G p.D46E -
+/+ Unknown c.139G>A p.E47K -
+/+ Unknown c.139G>C p.E47Q -
+/+ Unknown c.139G>T p.E47X -
+/+ Unknown c.146C>T p.A49V -
+/+ Unknown c.148G>A p.D50N -
+/+ Unknown c.148G>T p.D50Y -
+/+ Unknown c.149A>C p.D50A -
+/+ Unknown c.154G>C p.V52L -
+/+ Unknown c.157T>C p.C53R -
+/+ Unknown c.160A>C p.N54H -
+/+ Unknown c.161A>G p.N54S -
+/+ Unknown c.161A>T p.N54I -
+/+ Unknown c.162C>A p.N54K -
+/+ Unknown c.163A>C p.T55P -
+/+ Unknown c.164C>A p.T55N -
+/+ Unknown c.167delT - -
+/+ Unknown c.167T>C p.L56P -
+/+ Unknown c.169C>T p.Q57X -
+/+ Unknown c.172C>G p.P58A -
+/+ Unknown c.173C>G p.P58R -
+/+ Unknown c.175G>A p.G59S -
+/+ Unknown c.175G>C p.G59R -
+/+ Unknown c.176G>C p.G59A -
+/+ Unknown c.176G>T p.G59V -
+/+ Unknown c.187G>A p.V63M -
+/+ Unknown c.187G>T p.V63L -
+/+ Unknown c.188T>C p.V63A -
+/+ Unknown c.191G>A p.C64Y -
+/+ Unknown c.192C>A p.C64X -
+/+ Unknown c.195C>A p.Y65X -
+/+ Unknown c.195C>G p.Y65X -
+/+ Unknown c.196G>C p.D66H -
+/+ Unknown c.200A>G p.H67R -
+/+ Unknown c.203A>G p.Y68C -
+/+ Unknown c.208C>G p.P70A -
+/+ Unknown c.208C>T p.P70S -
+/+ Unknown c.209C>T p.P70L -
+/+ Unknown c.212T>C p.I71T -
+/+ Unknown c.218A>G p.H73R -
+/+ Unknown c.223C>T p.R75W -
+/+ Unknown c.224G>A p.R75Q -
+/+ Unknown c.227T>C p.L76P -
+/+ Unknown c.229T>C p.W77R -
+/+ Unknown c.230G>A p.W77X -
+/+ Unknown c.231G>A p.W77X -
+/+ Unknown c.232G>A p.A78T -
+/+ Unknown c.236T>C p.L79P -
+/+ Unknown c.238C>A p.Q80K -
+/+ Unknown c.238C>T p.Q80X -
+/+ Unknown c.239A>C p.Q80P -
+/+ Unknown c.239A>G p.Q80R -
+/+ Unknown c.239A>T p.Q80L -
+/+ Unknown c.241C>G p.L81V -
+/+ Unknown c.246C>G p.I82M -
+/+ Unknown c.247T>A p.F83I -
+/+ Unknown c.249C>G p.F83L -
+/+ Unknown c.250G>A p.V84M -
+/+ Unknown c.250G>C p.V84L -
+/+ Unknown c.250G>T p.V84L -
+/+ Unknown c.251T>C p.V84A -
+/+ Unknown c.253T>C p.S85P -
+/+ Unknown c.257C>G p.T86R -
+/+ Unknown c.257C>T p.T86M -
+/+ Unknown c.262G>C p.A88P -
+/+ Unknown c.262G>T p.A88S -
+/+ Unknown c.263C>G p.A88G -
+/+ Unknown c.268C>G p.L90V -
+/+ Unknown c.269T>C p.L90P -
+/+ Unknown c.278T>C p.M93T -
+/+ Unknown c.279G>A p.M93I -
+/+ Unknown c.283G>A p.V95M -
+/+ Unknown c.293G>A p.R98Q -
+/+ Unknown c.298C>T p.H100Y -
+/+ Unknown c.299A>C p.H100P -
+/+ Unknown c.299A>T p.H100L -
+/+ Unknown c.302A>G p.E101G -
+/+ Unknown c.307A>T p.K103X -
+/+ Unknown c.314A>G p.K105R -
+/+ Unknown c.326G>T p.G109V -
+/+ Unknown c.331A>G p.I111V -
+/+ Unknown c.339T>G p.S113R -
+/+ Unknown c.340G>T p.E114X -
+/+ Unknown c.341A>G p.E114G -
+/+ Unknown c.344T>G p.F115C -
+/+ Unknown c.355G>A p.E119K -
+/+ Unknown c.358G>A p.E120K -
+/+ Unknown c.365A>T p.K122I -
+/+ Unknown c.368C>A p.T123N -
+/+ Unknown c.370C>T p.Q124X -
+/+ Unknown c.379C>T p.R127C -
+/+ Unknown c.380G>A p.R127H -
+/+ Unknown c.380G>T p.R127L -
+/+ Unknown c.385G>A p.E129K -
+/+ Unknown c.389G>A p.G130D -
+/+ Unknown c.389G>C p.G130A -
+/+ Unknown c.389G>T p.G130V -
+/+ Unknown c.394C>G p.L132V -
+/+ Unknown c.398G>A p.W133X -
+/+ Unknown c.401G>A p.W134X -
+/+ Unknown c.408C>A p.Y136X -
+/+ Unknown c.412A>G p.S138G -
+/+ Unknown c.413G>A p.S138N -
+/+ Unknown c.416G>A p.S139N -
+/+ Unknown c.419T>G p.I140S -
+/+ Unknown c.424T>C p.F142L -
+/+ Unknown c.427C>T p.R143W -
+/+ Unknown c.428G>A p.R143Q -
+/+ Unknown c.428G>T p.R143L -
+/+ Unknown c.439G>A p.E147K -
+/+ Unknown c.439G>T p.E147X -
+/+ Unknown c.445G>A p.A149T -
+/+ Unknown c.452T>G p.M151R -
+/+ Unknown c.456C>A p.Y152X -
+/+ Unknown c.457G>A p.V153I -
+/+ Unknown c.458T>C p.V153A -
+/+ Unknown c.465T>A p.Y155X -
+/+ Unknown c.473A>G p.Y158C -
+/+ Unknown c.475G>A p.D159N -
+/+ Unknown c.475G>T p.D159Y -
+/+ Unknown c.476A>T p.D159V -
+/+ Unknown c.478G>A p.G160S -
+/+ Unknown c.482T>C p.F161S -
+/+ Unknown c.487A>C p.M163L -
+/+ Unknown c.487A>G p.M163V -
+/+ Unknown c.488T>C p.M163T -
+/+ Unknown c.493C>T p.R165W -
+/+ Unknown c.499G>A p.V167M -
+/+ Unknown c.503A>G p.K168R -
+/+ Unknown c.506G>A p.C169Y -
+/+ Unknown c.511G>A p.A171T -
+/+ Unknown c.514T>A p.W172R -
+/+ Unknown c.516G>A p.W172X -
+/+ Unknown c.517C>T p.P173S -
+/+ Unknown c.518C>G p.P173R -
+/+ Unknown c.520T>C p.C174R -
+/+ Unknown c.523C>A p.P175T -
+/+ Unknown c.533T>C p.V178A -
+/+ Unknown c.535G>A p.D179N -
+/+ Unknown c.548C>T p.S183F -
+/+ Unknown c.550C>G p.R184G -
+/+ Unknown c.550C>T p.R184W -
+/+ Unknown c.551G>A p.R184Q -
+/+ Unknown c.551G>C p.R184P -
+/+ Unknown c.557C>A p.T186K -
+/+ Unknown c.557C>T p.T186M -
+/+ Unknown c.563A>G p.K188R -
+/+ Unknown c.571T>C p.F191L -
+/+ Unknown c.584T>C p.M195T -
+/+ Unknown c.589G>T p.A197S -
+/+ Unknown c.592G>A p.V198M -
+/+ Unknown c.596C>T p.S199F -
+/+ Unknown c.598G>A p.G200R -
+/+ Unknown c.598G>T p.G200X -
+/+ Unknown c.605G>T p.C202F -
+/+ Unknown c.608T>C p.I203T -
+/+ Unknown c.613C>G p.L205V -
+/+ Unknown c.614T>C p.L205P -
+/+ Unknown c.617A>G p.N206S -
+/+ Unknown c.622A>C p.T208P -
+/+ Unknown c.633T>A p.C211X -
+/+ Unknown c.641T>C p.L214P -
+/+ Unknown c.650A>G p.Y217C -
+/+ Unknown c.653G>A p.C218Y -
+/+ Unknown c.670A>C p.K224Q -
+/+ Unknown c.677T>G p.V226G -

7 entries in GJB6

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.14C>T p.T5M -
+/+ Unknown c.31G>A p.G11R -
+/+ Unknown c.110T>A p.V37E -
+/+ Unknown c.119C>T p.A40V -
+/+ Unknown c.148G>A p.D50N -
+/+ Unknown c.175G>C p.G59R -
+/+ Unknown c.263C>T p.A88V -

367 entries in GLA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.2T>C p.M1T -
+/+ Unknown c.2T>G p.M1R -
+/+ Unknown c.3G>A p.M1I -
+/+ Unknown c.41T>C p.L14P -
+/+ Unknown c.47T>C p.L16P -
+/+ Unknown c.53T>C p.F18S -
+/+ Unknown c.56T>C p.L19P -
+/+ Unknown c.58G>C p.A20P -
+/+ Unknown c.92C>T p.A31V -
+/+ Unknown c.95T>C p.L32P -
+/+ Unknown c.101A>G p.N34S -
+/+ Unknown c.102T>G p.N34K -
+/+ Unknown c.103G>A p.G35R -
+/+ Unknown c.107T>C p.L36S -
+/+ Unknown c.108G>T p.L36F -
+/+ Unknown c.118C>T p.P40S -
+/+ Unknown c.119C>T p.P40L -
+/+ Unknown c.122C>T p.T41I -
+/+ Unknown c.124A>C p.M42L -
+/+ Unknown c.124A>G p.M42V -
+/+ Unknown c.125T>C p.M42T -
+/+ Unknown c.127G>C p.G43R -
+/+ Unknown c.128G>A p.G43D -
+/+ Unknown c.128G>T p.G43V -
+/+ Unknown c.131G>A p.W44X -
+/+ Unknown c.132G>T p.W44C -
+/+ Unknown c.136C>T p.H46Y -
+/+ Unknown c.137A>C p.H46P -
+/+ Unknown c.137A>G p.H46R -
+/+ Unknown c.139T>G p.W47G -
+/+ Unknown c.140G>T p.W47L -
+/+ Unknown c.142G>A p.E48K -
+/+ Unknown c.145C>A p.R49S -
+/+ Unknown c.145C>G p.R49G -
+/+ Unknown c.146G>C p.R49P -
+/+ Unknown c.146G>T p.R49L -
+/+ Unknown c.149T>G p.F50C -
+/+ Unknown c.152T>A p.M51K -
+/+ Unknown c.153G>A p.M51I -
+/+ Unknown c.154T>C p.C52R -
+/+ Unknown c.155G>A p.C52Y -
+/+ Unknown c.155G>C p.C52S -
+/+ Unknown c.156C>A p.C52X -
+/+ Unknown c.161T>C p.L54P -
+/+ Unknown c.166T>G p.C56G -
+/+ Unknown c.167G>A p.C56Y -
+/+ Unknown c.167G>T p.C56F -
+/+ Unknown c.168C>A p.C56X -
+/+ Unknown c.175G>A p.E59K -
+/+ Unknown c.188G>A p.C63Y -
+/+ Unknown c.196G>A p.E66K -
+/+ Unknown c.196G>C p.E66Q -
+/+ Unknown c.197A>G p.E66G -
+/+ Unknown c.202C>T p.L68F -
+/+ Unknown c.214A>G p.M72V -
+/+ Unknown c.215T>G p.M72R -
+/+ Unknown c.216G>A p.M72I -
+/+ Unknown c.218C>T p.A73V -
+/+ Unknown c.227T>C p.M76T -
+/+ Unknown c.233C>G p.S78X -
+/+ Unknown c.235G>T p.E79X -
+/+ Unknown c.242G>A p.W81X -
+/+ Unknown c.242G>C p.W81S -
+/+ Unknown c.254G>A p.G85D -
+/+ Unknown c.257A>G p.Y86C -
+/+ Unknown c.258T>G p.Y86X -
+/+ Unknown c.262T>G p.Y88D -
+/+ Unknown c.266T>C p.L89P -
+/+ Unknown c.266T>G p.L89R -
+/+ Unknown c.272T>C p.I91T -
+/+ Unknown c.274G>A p.D92N -
+/+ Unknown c.274G>C p.D92H -
+/+ Unknown c.274G>T p.D92Y -
+/+ Unknown c.277G>A p.D93N -
+/+ Unknown c.278A>G p.D93G -
+/+ Unknown c.278A>T p.D93V -
+/+ Unknown c.281G>A p.C94Y -
+/+ Unknown c.281G>C p.C94S -
+/+ Unknown c.284G>A p.W95X -
+/+ Unknown c.284G>C p.W95S -
+/+ Unknown c.289G>C p.A97P -
+/+ Unknown c.290C>T p.A97V -
+/+ Unknown c.295C>T p.Q99X -
+/+ Unknown c.299G>A p.R100K -
+/+ Unknown c.299G>C p.R100T -
+/+ Unknown c.305C>G p.S102X -
+/+ Unknown c.307G>C p.E103Q -
+/+ Unknown c.311G>T p.G104V -
+/+ Unknown c.317T>G p.L106R -
+/+ Unknown c.319C>T p.Q107X -
+/+ Unknown c.334C>A p.R112S -
+/+ Unknown c.334C>T p.R112C -
+/+ Unknown c.335G>A p.R112H -
+/+ Unknown c.337T>C p.F113L -
+/+ Unknown c.338T>C p.F113S -
+/+ Unknown c.352C>T p.R118C -
+/+ Unknown c.355C>T p.Q119X -
+/+ Unknown c.358C>G p.L120V -
+/+ Unknown c.361G>C p.A121P -
+/+ Unknown c.374A>C p.H125P -
?/? Unknown c.376A>G p.S126G -
+/+ Unknown c.379A>T p.K127X -
+/+ Unknown c.383G>A p.G128E -
+/+ Unknown c.386T>C p.L129P -
+/+ Unknown c.392T>C p.L131P -
+/+ Unknown c.394G>A p.G132R -
+/+ Unknown c.401A>C p.Y134S -
+/+ Unknown c.402T>G p.Y134X -
+/+ Unknown c.404C>T p.A135V -
+/+ Unknown c.406G>C p.D136H -
+/+ Unknown c.412G>A p.G138R -
+/+ Unknown c.413G>A p.G138E -
+/+ Unknown c.422C>T p.T141I -
+/+ Unknown c.424T>C p.C142R -
+/+ Unknown c.425G>A p.C142Y -
+/+ Unknown c.426C>A p.C142X -
+/+ Unknown c.426C>G p.C142W -
+/+ Unknown c.427G>A p.A143T -
+/+ Unknown c.427G>C p.A143P -
+/+ Unknown c.431G>T p.G144V -
+/+ Unknown c.436C>T p.P146S -
+/+ Unknown c.439G>A p.G147R -
+/+ Unknown c.443G>A p.S148N -
+/+ Unknown c.444T>G p.S148R -
+/+ Unknown c.453C>G p.Y151X -
+/+ Unknown c.456C>A p.Y152X -
+/+ Unknown c.463G>C p.D155H -
+/+ Unknown c.466G>A p.A156T -
+/+ Unknown c.467C>T p.A156V -
+/+ Unknown c.469C>T p.Q157X -
+/+ Unknown c.484T>C p.W162R -
+/+ Unknown c.485G>A p.W162X -
+/+ Unknown c.486G>C p.W162C -
+/+ Unknown c.488G>T p.G163V -
+/+ Unknown c.493G>C p.D165H -
+/+ Unknown c.494A>T p.D165V -
+/+ Unknown c.496C>G p.L166V -
+/+ Unknown c.500T>C p.L167P -
+/+ Unknown c.503A>G p.K168R -
+/+ Unknown c.506T>C p.F169S -
+/+ Unknown c.508G>C p.D170H -
+/+ Unknown c.509A>T p.D170V -
+/+ Unknown c.511G>C p.G171R -
+/+ Unknown c.511G>T p.G171C -
+/+ Unknown c.512G>A p.G171D -
+/+ Unknown c.514T>C p.C172R -
+/+ Unknown c.514T>G p.C172G -
+/+ Unknown c.515G>A p.C172Y -
+/+ Unknown c.515G>T p.C172F -
+/+ Unknown c.516T>G p.C172W -
+/+ Unknown c.519C>A p.Y173X -
+/+ Unknown c.530T>A p.L177X -
+/+ Unknown c.547G>A p.G183S -
+/+ Unknown c.548G>A p.G183D -
+/+ Unknown c.548G>C p.G183A -
+/+ Unknown c.559A>G p.M187V -
+/+ Unknown c.560T>C p.M187T -
+/+ Unknown c.572T>A p.L191Q -
+/+ Unknown c.572T>C p.L191P -
+/+ Unknown c.581C>T p.T194I -
+/+ Unknown c.595G>A p.V199M -
+/+ Unknown c.602C>A p.S201Y -
+/+ Unknown c.602C>T p.S201F -
+/+ Unknown c.605G>A p.C202Y -
+/+ Unknown c.606T>G p.C202W -
+/+ Unknown c.611G>A p.W204X -
+/+ Unknown c.613C>A p.P205T -
+/+ Unknown c.614C>G p.P205R -
+/+ Unknown c.614C>T p.P205L -
+/+ Unknown c.620A>C p.Y207S -
+/+ Unknown c.644A>G p.N215S -
+/+ Unknown c.646T>G p.Y216D -
+/+ Unknown c.647A>G p.Y216C -
+/+ Unknown c.656T>C p.I219T -
+/+ Unknown c.658C>T p.R220X -
+/+ Unknown c.661C>T p.Q221X -
+/+ Unknown c.666C>A p.Y222X -
+/+ Unknown c.667T>C p.C223R -
+/+ Unknown c.667T>G p.C223G -
+/+ Unknown c.668G>A p.C223Y -
+/+ Unknown c.670A>G p.N224D -
+/+ Unknown c.671A>G p.N224S -
+/+ Unknown c.674A>G p.H225R -
+/+ Unknown c.676T>C p.W226R -
+/+ Unknown c.677G>A p.W226X -
+/+ Unknown c.678G>T p.W226C -
+/+ Unknown c.679C>T p.R227X -
+/+ Unknown c.680G>A p.R227Q -
+/+ Unknown c.688G>A p.A230T -
+/+ Unknown c.691G>A p.D231N -
+/+ Unknown c.692A>G p.D231G -
+/+ Unknown c.692A>T p.D231V -
+/+ Unknown c.700G>T p.D234Y -
+/+ Unknown c.702T>G p.D234E -
+/+ Unknown c.704C>G p.S235C -
+/+ Unknown c.704C>T p.S235F -
+/+ Unknown c.706T>C p.W236R -
+/+ Unknown c.707G>A p.W236X -
+/+ Unknown c.707G>T p.W236L -
+/+ Unknown c.708G>C p.W236C -
+/+ Unknown c.713G>A p.S238N -
+/+ Unknown c.716T>C p.I239T -
+/+ Unknown c.718A>T p.K240X -
+/+ Unknown c.725T>A p.I242N -
+/+ Unknown c.729G>C p.L243F -
+/+ Unknown c.730G>A p.D244N -
+/+ Unknown c.730G>C p.D244H -
+/+ Unknown c.734G>A p.W245X -
+/+ Unknown c.735G>A p.W245X -
+/+ Unknown c.739T>C p.S247P -
+/+ Unknown c.740C>G p.S247C -
+/+ Unknown c.748C>T p.Q250X -
+/+ Unknown c.749A>C p.Q250P -
+/+ Unknown c.751G>T p.E251X -
+/+ Unknown c.769G>C p.A257P -
+/+ Unknown c.772G>C p.G258R -
+/+ Unknown c.773G>T p.G258V -
+/+ Unknown c.776C>G p.P259R -
+/+ Unknown c.776C>T p.P259L -
+/+ Unknown c.779G>C p.G260A -
+/+ Unknown c.782G>A p.G261D -
+/+ Unknown c.785G>A p.W262X -
+/+ Unknown c.786G>C p.W262C -
+/+ Unknown c.788A>G p.N263S -
+/+ Unknown c.790G>T p.D264Y -
+/+ Unknown c.791A>T p.D264V -
+/+ Unknown c.794C>G p.P265R -
+/+ Unknown c.794C>T p.P265L -
+/+ Unknown c.796G>A p.D266N -
+/+ Unknown c.796G>C p.D266H -
+/+ Unknown c.796G>T p.D266Y -
+/+ Unknown c.797A>T p.D266V -
+/+ Unknown c.798T>A p.D266E -
+/+ Unknown c.800T>G p.M267R -
+/+ Unknown c.801G>A p.M267I -
+/+ Unknown c.803T>C p.L268S -
+/+ Unknown c.805G>A p.V269M -
+/+ Unknown c.806T>C p.V269A -
+/+ Unknown c.809T>C p.I270T -
+/+ Unknown c.811G>A p.G271S -
+/+ Unknown c.811G>T p.G271C -
+/+ Unknown c.812G>T p.G271V -
+/+ Unknown c.815A>G p.N272S -
+/+ Unknown c.816C>A p.N272K -
+/+ Unknown c.826A>G p.S276G -
+/+ Unknown c.827G>A p.S276N -
+/+ Unknown c.830G>A p.W277X -
+/+ Unknown c.835C>G p.Q279E -
+/+ Unknown c.836A>G p.Q279R -
+/+ Unknown c.837G>C p.Q279H -
+/+ Unknown c.838C>A p.Q280K -
+/+ Unknown c.840A>T p.Q280H -
+/+ Unknown c.844A>G p.T282A -
+/+ Unknown c.845C>A p.T282N -
+/+ Unknown c.848A>C p.Q283P -
+/+ Unknown c.851T>C p.M284T -
+/+ Unknown c.853G>C p.A285P -
+/+ Unknown c.854C>A p.A285D -
+/+ Unknown c.859T>G p.W287G -
+/+ Unknown c.861G>A p.W287X -
+/+ Unknown c.861G>T p.W287C -
+/+ Unknown c.862G>C p.A288P -
+/+ Unknown c.863C>A p.A288D -
+/+ Unknown c.865A>T p.I289F -
+/+ Unknown c.866T>G p.I289S -
+/+ Unknown c.870G>A p.M290I -
+/+ Unknown c.871G>A p.A291T -
+/+ Unknown c.874G>A p.A292T -
+/+ Unknown c.874G>C p.A292P -
+/+ Unknown c.877C>A p.P293T -
+/+ Unknown c.877C>G p.P293A -
+/+ Unknown c.877C>T p.P293S -
+/+ Unknown c.881T>G p.L294X -
+/+ Unknown c.886A>G p.M296V -
+/+ Unknown c.886A>T p.M296L -
+/+ Unknown c.888G>A p.M296I -
+/+ Unknown c.890C>G p.S297C -
+/+ Unknown c.890C>T p.S297F -
+/+ Unknown c.892A>C p.N298H -
+/+ Unknown c.893A>G p.N298S -
+/+ Unknown c.894T>G p.N298K -
+/+ Unknown c.898C>T p.L300F -
+/+ Unknown c.899T>A p.L300H -
+/+ Unknown c.901C>G p.R301G -
+/+ Unknown c.901C>T p.R301X -
+/+ Unknown c.902G>A p.R301Q -
+/+ Unknown c.902G>C p.R301P -
+/+ Unknown c.908T>A p.I303N -
+/+ Unknown c.916C>T p.Q306X -
+/+ Unknown c.924A>T p.K308N -
+/+ Unknown c.928C>T p.L310F -
+/+ Unknown c.935A>G p.Q312R -
+/+ Unknown c.936G>T p.Q312H -
+/+ Unknown c.937G>T p.D313Y -
+/+ Unknown c.947T>A p.V316E -
+/+ Unknown c.950T>A p.I317N -
+/+ Unknown c.950T>C p.I317T -
+/+ Unknown c.958A>T p.N320Y -
+/+ Unknown c.959A>T p.N320I -
+/+ Unknown c.960T>G p.N320K -
+/+ Unknown c.961C>G p.Q321E -
+/+ Unknown c.961C>T p.Q321X -
+/+ Unknown c.962A>G p.Q321R -
+/+ Unknown c.962A>T p.Q321L -
+/+ Unknown c.974G>A p.G325D -
+/+ Unknown c.979C>A p.Q327K -
+/+ Unknown c.979C>G p.Q327E -
+/+ Unknown c.982G>A p.G328R -
+/+ Unknown c.983G>C p.G328A -
+/+ Unknown c.983G>T p.G328V -
+/+ Unknown c.988C>T p.Q330X -
+/+ Unknown c.997C>T p.Q333X -
+/+ Unknown c.1012G>A p.E338K -
+/+ Unknown c.1012G>T p.E338X -
+/+ Unknown c.1018T>C p.W340R -
+/+ Unknown c.1020G>A p.W340X -
+/+ Unknown c.1021G>A p.E341K -
+/+ Unknown c.1023A>C p.E341D -
+/+ Unknown c.1024C>T p.R342X -
+/+ Unknown c.1025G>A p.R342Q -
+/+ Unknown c.1031T>C p.L344P -
+/+ Unknown c.1033T>C p.S345P -
+/+ Unknown c.1042G>C p.A348P -
+/+ Unknown c.1046G>A p.W349X -
+/+ Unknown c.1048G>C p.A350P -
+/+ Unknown c.1055C>A p.A352D -
+/+ Unknown c.1065C>A p.N355K -
+/+ Unknown c.1066C>T p.R356W -
+/+ Unknown c.1067G>A p.R356Q -
+/+ Unknown c.1069C>T p.Q357X -
+/+ Unknown c.1072G>A p.E358K -
+/+ Unknown c.1073A>C p.E358A -
+/+ Unknown c.1073A>G p.E358G -
+/+ Unknown c.1078G>A p.G360S -
+/+ Unknown c.1078G>T p.G360C -
+/+ Unknown c.1081G>A p.G361R -
+/+ Unknown c.1085C>T p.P362L -
+/+ Unknown c.1087C>T p.R363C -
+/+ Unknown c.1088G>A p.R363H -
+/+ Unknown c.1095T>A p.Y365X -
+/+ Unknown c.1117G>A p.G373S -
+/+ Unknown c.1118G>A p.G373D -
+/+ Unknown c.1130C>A p.A377D -
+/+ Unknown c.1132T>C p.C378R -
+/+ Unknown c.1133G>A p.C378Y -
+/+ Unknown c.1145G>A p.C382Y -
+/+ Unknown c.1146C>G p.C382W -
+/+ Unknown c.1151T>A p.I384N -
+/+ Unknown c.1153A>C p.T385P -
+/+ Unknown c.1156C>T p.Q386X -
+/+ Unknown c.1157A>C p.Q386P -
+/+ Unknown c.1172A>C p.K391T -
+/+ Unknown c.1192G>A p.E398K -
+/+ Unknown c.1192G>T p.E398X -
+/+ Unknown c.1196G>A p.W399X -
+/+ Unknown c.1202C>G p.S401X -
+/+ Unknown c.1208T>C p.L403S -
+/+ Unknown c.1220T>A p.I407K -
+/+ Unknown c.1225C>A p.P409T -
+/+ Unknown c.1225C>G p.P409A -
+/+ Unknown c.1225C>T p.P409S -
+/+ Unknown c.1228A>C p.T410P -
+/+ Unknown c.1228A>G p.T410A -
+/+ Unknown c.1229C>A p.T410K -
+/+ Unknown c.1232G>A p.G411D -
+/+ Unknown c.1241T>C p.L414S -
+/+ Unknown c.1244T>C p.L415P -

4 entries in GPR98

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.6901C>T p.Q2301X -
+/+ Unknown c.8290T>C p.S2764P -
+/+ Unknown c.8495C>A p.S2832X -
+/+ Unknown c.18131A>G p.Y6044C -

5 entries in HAX1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.256C>T p.R86X -
+/+ Unknown c.389T>G p.L130R -
+/+ Unknown c.409C>T p.Q137X -
+/+ Unknown c.421T>C p.F141L -
+/+ Unknown c.568C>T p.Q190X -

92 entries in IL2RG

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.1A>G p.M1V -
+/+ Unknown c.3G>A p.M1I -
+/+ Unknown c.184T>G p.C62G -
+/+ Unknown c.186T>A p.C62X -
+/+ Unknown c.196A>C p.N66H -
+/+ Unknown c.197A>T p.N66I -
+/+ Unknown c.202G>A p.E68K -
+/+ Unknown c.203A>G p.E68G -
+/+ Unknown c.207C>A p.Y69X -
+/+ Unknown c.220T>G p.W74G -
+/+ Unknown c.222G>C p.W74C -
+/+ Unknown c.241C>T p.Q81X -
+/+ Unknown c.252C>G p.N84K -
+/+ Unknown c.266A>G p.Y89C -
+/+ Unknown c.269G>A p.W90X -
+/+ Unknown c.272A>G p.Y91C -
+/+ Unknown c.273C>A p.Y91X -
+/+ Unknown c.292A>G p.K98E -
+/+ Unknown c.292A>T p.K98X -
+/+ Unknown c.305G>A p.C102Y -
+/+ Unknown c.314A>G p.Y105C -
+/+ Unknown c.315T>A p.Y105X -
+/+ Unknown c.322T>C p.S108P -
+/+ Unknown c.328G>T p.E110X -
+/+ Unknown c.341G>A p.G114D -
+/+ Unknown c.343T>C p.C115R -
+/+ Unknown c.346C>T p.Q116X -
+/+ Unknown c.352C>T p.Q118X -
+/+ Unknown c.355A>T p.K119X -
+/+ Unknown c.368A>C p.H123P -
+/+ Unknown c.373T>A p.Y125N -
+/+ Unknown c.374A>G p.Y125C -
+/+ Unknown c.376C>T p.Q126X -
+/+ Unknown c.391C>T p.Q131X -
+/+ Unknown c.392A>C p.Q131P -
+/+ Unknown c.394C>T p.L132F -
+/+ Unknown c.397C>T p.Q133X -
+/+ Unknown c.407G>C p.R136P -
+/+ Unknown c.421C>T p.Q141X -
+/+ Unknown c.430C>T p.Q144X -
+/+ Unknown c.431A>C p.Q144P -
+/+ Unknown c.437T>C p.L146P -
+/+ Unknown c.452T>C p.L151P -
+/+ Unknown c.455T>C p.V152A -
+/+ Unknown c.458T>A p.I153N -
+/+ Unknown c.467C>T p.A156V -
+/+ Unknown c.469C>T p.P157S -
+/+ Unknown c.485T>A p.L162H -
+/+ Unknown c.485T>G p.L162R -
+/+ Unknown c.515T>A p.L172Q -
+/+ Unknown c.515T>C p.L172P -
+/+ Unknown c.521G>A p.W174X -
+/+ Unknown c.522G>A p.W174X -
+/+ Unknown c.544T>C p.C182R -
+/+ Unknown c.545G>A p.C182Y -
+/+ Unknown c.548T>C p.L183S -
+/+ Unknown c.550G>T p.E184X -
+/+ Unknown c.554A>G p.H185R -
+/+ Unknown c.562C>T p.Q188X -
+/+ Unknown c.567C>A p.Y189X -
+/+ Unknown c.579G>A p.W193X -
+/+ Unknown c.590G>A p.W197X -
+/+ Unknown c.602C>G p.S201X -
+/+ Unknown c.619A>T p.K207X -
+/+ Unknown c.646C>T p.Q216X -
+/+ Unknown c.664C>T p.R222C -
+/+ Unknown c.670C>T p.R224W -
+/+ Unknown c.676C>T p.R226C -
+/+ Unknown c.677G>A p.R226H -
+/+ Unknown c.680T>G p.F227C -
+/+ Unknown c.689T>C p.L230P -
+/+ Unknown c.691T>C p.C231R -
+/+ Unknown c.692G>A p.C231Y -
+/+ Unknown c.694G>C p.G232R -
+/+ Unknown c.703C>T p.Q235X -
+/+ Unknown c.709T>C p.W237R -
+/+ Unknown c.718T>C p.W240R -
+/+ Unknown c.720G>C p.W240C -
+/+ Unknown c.722G>T p.S241I -
+/+ Unknown c.737G>A p.W246X -
+/+ Unknown c.738G>A p.W246X -
+/+ Unknown c.802G>C p.G268R -
+/+ Unknown c.809T>G p.M270R -
+/+ Unknown c.812G>A p.G271E -
+/+ Unknown c.834T>G p.C278W -
+/+ Unknown c.854G>A p.R285Q -
+/+ Unknown c.865C>T p.R289X -
+/+ Unknown c.878T>A p.L293Q -
+/+ Unknown c.909C>A p.Y303X -
+/+ Unknown c.923C>A p.S308X -
+/+ Unknown c.964C>T p.Q322X -
+/+ Unknown c.975C>G p.Y325X -

133 entries in JAG1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.73C>T p.R25X -
+/+ Unknown c.92C>T p.A31V -
+/+ Unknown c.97G>A p.G33S -
+/+ Unknown c.98G>A p.G33D -
+/+ Unknown c.98G>T p.G33V -
+/+ Unknown c.110T>C p.L37S -
+/+ Unknown c.116T>G p.I39S -
+/+ Unknown c.119T>C p.L40P -
+/+ Unknown c.127C>T p.Q43X -
+/+ Unknown c.133G>T p.V45L -
+/+ Unknown c.142G>T p.E48X -
+/+ Unknown c.148C>T p.Q50X -
+/+ Unknown c.157A>G p.N53D -
+/+ Unknown c.165C>A p.C55X -
+/+ Unknown c.194A>T p.K65M -
+/+ Unknown c.224T>C p.F75S -
+/+ Unknown c.233G>A p.C78Y -
+/+ Unknown c.233G>C p.C78S -
+/+ Unknown c.236T>A p.L79H -
+/+ Unknown c.241G>T p.E81X -
+/+ Unknown c.274T>C p.C92R -
+/+ Unknown c.275G>A p.C92Y -
+/+ Unknown c.287C>A p.S96X -
+/+ Unknown c.359T>A p.I120N -
+/+ Unknown c.365T>C p.L122P -
+/+ Unknown c.367C>T p.P123S -
+/+ Unknown c.379G>A p.A127T -
+/+ Unknown c.383G>A p.W128X -
+/+ Unknown c.386C>G p.P129R -
+/+ Unknown c.407T>G p.V136G -
+/+ Unknown c.439C>T p.Q147X -
+/+ Unknown c.455T>C p.I152T -
+/+ Unknown c.463G>C p.A155P -
+/+ Unknown c.473C>A p.S158X -
+/+ Unknown c.488C>G p.P163R -
+/+ Unknown c.488C>T p.P163L -
+/+ Unknown c.496C>T p.Q166X -
+/+ Unknown c.514C>T p.Q172X -
+/+ Unknown c.541T>A p.Y181N -
+/+ Unknown c.550C>G p.R184G -
+/+ Unknown c.550C>T p.R184C -
+/+ Unknown c.551G>A p.R184H -
+/+ Unknown c.551G>T p.R184L -
+/+ Unknown c.560G>A p.C187Y -
+/+ Unknown c.560G>C p.C187S -
+/+ Unknown c.573C>G p.Y191X -
+/+ Unknown c.588C>A p.C196X -
+/+ Unknown c.608G>A p.R203K -
+/+ Unknown c.659G>T p.C220F -
+/+ Unknown c.672G>T p.W224C -
+/+ Unknown c.685T>G p.C229G -
+/+ Unknown c.686G>A p.C229Y -
+/+ Unknown c.701G>A p.C234Y -
+/+ Unknown c.703C>T p.R235X -
+/+ Unknown c.754A>G p.R252G -
+/+ Unknown c.765C>A p.Y255X -
+/+ Unknown c.765C>G p.Y255X -
+/+ Unknown c.766G>A p.G256S -
+/+ Unknown c.770G>A p.W257X -
+/+ Unknown c.772C>T p.Q258X -
+/+ Unknown c.776G>T p.G259V -
+/+ Unknown c.806C>T p.P269L -
+/+ Unknown c.811T>C p.C271R -
+/+ Unknown c.821G>A p.G274D -
+/+ Unknown c.841C>T p.Q281X -
+/+ Unknown c.851G>T p.C284F -
+/+ Unknown c.864G>C p.W288C -
+/+ Unknown c.910C>T p.Q304X -
+/+ Unknown c.918T>A p.C306X -
+/+ Unknown c.976G>T p.E326X -
+/+ Unknown c.986C>A p.S329X -
+/+ Unknown c.1009G>T p.E337X -
+/+ Unknown c.1057G>T p.E353X -
+/+ Unknown c.1156G>A p.G386R -
+/+ Unknown c.1168C>T p.Q390X -
+/+ Unknown c.1189A>T p.K397X -
+/+ Unknown c.1207C>T p.Q403X -
+/+ Unknown c.1228C>T p.Q410X -
+/+ Unknown c.1305C>G p.Y435X -
+/+ Unknown c.1313G>T p.C438F -
+/+ Unknown c.1325G>A p.W442X -
+/+ Unknown c.1326G>A p.W442X -
+/+ Unknown c.1511A>G p.N504S -
+/+ Unknown c.1528C>T p.Q510X -
+/+ Unknown c.1567C>T p.Q523X -
+/+ Unknown c.1603C>T p.Q535X -
+/+ Unknown c.1641T>G p.Y547X -
+/+ Unknown c.1657G>T p.E553X -
+/+ Unknown c.1665T>G p.Y555X -
+/+ Unknown c.1720G>C p.V574L -
+/+ Unknown c.1875C>G p.Y625X -
+/+ Unknown c.1976G>A p.W659X -
+/+ Unknown c.2068T>G p.Y690D -
+/+ Unknown c.2078G>A p.C693Y -
+/+ Unknown c.2091G>A p.W697X -
+/+ Unknown c.2106C>A p.C702X -
+/+ Unknown c.2111C>G p.S704X -
+/+ Unknown c.2122C>T p.Q708X -
+/+ Unknown c.2141G>A p.C714Y -
+/+ Unknown c.2191T>A p.C731S -
+/+ Unknown c.2204G>A p.W735X -
+/+ Unknown c.2218T>C p.C740R -
+/+ Unknown c.2230C>T p.R744X -
+/+ Unknown c.2257T>C p.C753R -
+/+ Unknown c.2418C>A p.C806X -
+/+ Unknown c.2473C>T p.Q825X -
+/+ Unknown c.2526C>A p.Y842X -
+/+ Unknown c.2538C>A p.C846X -
+/+ Unknown c.2566C>T p.Q856X -
+/+ Unknown c.2612C>G p.P871R -
+/+ Unknown c.2640T>A p.C880X -
+/+ Unknown c.2650C>T p.Q884X -
+/+ Unknown c.2655C>A p.C885X -
+/+ Unknown c.2666G>A p.R889Q -
+/+ Unknown c.2678C>G p.S893X -
+/+ Unknown c.2688G>A p.W896X -
+/+ Unknown c.2691T>A p.C897X -
+/+ Unknown c.2698C>T p.R900X -
+/+ Unknown c.2705G>C p.C902S -
+/+ Unknown c.2706C>A p.C902X -
+/+ Unknown c.2724C>G p.H908Q -
+/+ Unknown c.2732G>A p.C911Y -
+/+ Unknown c.2739C>G p.S913R -
+/+ Unknown c.2762T>C p.L921P -
+/+ Unknown c.2770C>T p.Q924X -
+/+ Unknown c.2810G>A p.R937Q -
+/+ Unknown c.2824C>T p.Q942X -
+/+ Unknown c.2863C>T p.Q955X -
+/+ Unknown c.2893T>C p.F965L -
+/+ Unknown c.3006C>A p.C1002X -
+/+ Unknown c.3007G>T p.E1003X -
+/+ Unknown c.3289C>T p.R1097W -
+/+ Unknown c.3638G>A p.R1213Q -

30 entries in KCNE1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.20C>T p.T7I -
+/+ Unknown c.23C>T p.A8V -
+/+ Unknown c.29C>T p.T10M -
+/+ Unknown c.50G>A p.W17X -
+/+ Unknown c.59C>T p.T20I -
+/+ Unknown c.83C>T p.S28L -
+/+ Unknown c.95G>A p.R32H -
+/+ Unknown c.107G>A p.R36H -
+/+ Unknown c.112G>A p.G38S -
+/+ Unknown c.139G>T p.V47F -
+/+ Unknown c.154G>A p.G52R -
+/+ Unknown c.158T>C p.F53S -
+/+ Unknown c.163G>A p.G55S -
+/+ Unknown c.172A>C p.T58P -
+/+ Unknown c.176T>C p.L59P -
+/+ Unknown c.199C>T p.R67C -
+/+ Unknown c.200G>A p.R67H -
+/+ Unknown c.209A>T p.K70M -
+/+ Unknown c.210G>C p.K70N -
+/+ Unknown c.221C>T p.S74L -
+/+ Unknown c.226G>A p.D76N -
+/+ Unknown c.242A>G p.Y81C -
+/+ Unknown c.247G>A p.E83K -
+/+ Unknown c.253G>A p.D85N -
+/+ Unknown c.259T>C p.W87R -
+/+ Unknown c.292C>T p.R98W -
+/+ Unknown c.325G>A p.V109I -
+/+ Unknown c.349C>T p.Q117X -
+/+ Unknown c.374C>T p.T125M -
+/+ Unknown c.379C>A p.P127T -

295 entries in KCNQ1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.1A>G p.M1V -
+/+ Unknown c.5C>T p.A2V -
+/+ Unknown c.19C>T p.P7S -
+/+ Unknown c.40C>T p.R14C -
+/+ Unknown c.136G>A p.A46T -
+/+ Unknown c.153C>G p.Y51X -
+/+ Unknown c.170G>T p.G57V -
+/+ Unknown c.197C>T p.S66F -
+/+ Unknown c.217C>A p.P73T -
+/+ Unknown c.314A>T p.H105L -
+/+ Unknown c.332A>G p.Y111C -
+/+ Unknown c.341T>C p.L114P -
+/+ Unknown c.344A>G p.E115G -
+/+ Unknown c.350C>T p.P117L -
+/+ Unknown c.365G>A p.C122Y -
+/+ Unknown c.381C>A p.F127L -
+/+ Unknown c.394A>C p.I132L -
+/+ Unknown c.397G>A p.V133I -
+/+ Unknown c.401T>C p.L134P -
+/+ Unknown c.407G>T p.C136F -
+/+ Unknown c.409C>T p.L137F -
+/+ Unknown c.418A>G p.S140G -
+/+ Unknown c.421G>A p.V141M -
+/+ Unknown c.430A>G p.T144A -
+/+ Unknown c.436G>A p.E146K -
+/+ Unknown c.440A>G p.Q147R -
+/+ Unknown c.444T>A p.Y148X -
+/+ Unknown c.449C>G p.A150G -
+/+ Unknown c.458C>T p.T153M -
+/+ Unknown c.470T>G p.F157C -
+/+ Unknown c.478G>A p.E160K -
+/+ Unknown c.479A>T p.E160V -
+/+ Unknown c.484G>A p.V162M -
+/+ Unknown c.502G>A p.G168R -
+/+ Unknown c.502G>C p.G168R -
+/+ Unknown c.506C>G p.T169R -
+/+ Unknown c.513C>G p.Y171X -
+/+ Unknown c.514G>A p.V172M -
+/+ Unknown c.518T>A p.V173D -
+/+ Unknown c.520C>T p.R174C -
+/+ Unknown c.521G>A p.R174H -
+/+ Unknown c.521G>C p.R174P -
+/+ Unknown c.532G>A p.A178T -
+/+ Unknown c.532G>C p.A178P -
+/+ Unknown c.535G>A p.G179S -
+/+ Unknown c.550T>C p.Y184H -
+/+ Unknown c.551A>C p.Y184S -
+/+ Unknown c.556G>A p.G186S -
+/+ Unknown c.556G>C p.G186R -
+/+ Unknown c.560T>C p.L187P -
+/+ Unknown c.564G>A p.W188X -
+/+ Unknown c.565G>A p.G189R -
+/+ Unknown c.566G>A p.G189E -
+/+ Unknown c.568C>T p.R190W -
+/+ Unknown c.569G>A p.R190Q -
+/+ Unknown c.569G>T p.R190L -
+/+ Unknown c.572T>C p.L191P -
+/+ Unknown c.575G>A p.R192H -
+/+ Unknown c.575G>C p.R192P -
+/+ Unknown c.577T>C p.F193L -
+/+ Unknown c.580G>C p.A194P -
+/+ Unknown c.583C>T p.R195W -
+/+ Unknown c.592A>G p.I198V -
+/+ Unknown c.595T>G p.S199A -
+/+ Unknown c.604G>A p.D202N -
+/+ Unknown c.604G>C p.D202H -
+/+ Unknown c.610A>T p.I204F -
+/+ Unknown c.612C>G p.I204M -
+/+ Unknown c.613G>A p.V205M -
+/+ Unknown c.619G>A p.V207M -
+/+ Unknown c.625T>C p.S209P -
+/+ Unknown c.626C>T p.S209F -
+/+ Unknown c.643G>A p.V215M -
+/+ Unknown c.671C>T p.T224M -
+/+ Unknown c.674C>T p.S225L -
+/+ Unknown c.677C>T p.A226V -
+/+ Unknown c.686G>A p.G229D -
+/+ Unknown c.691C>T p.R231C -
+/+ Unknown c.692G>A p.R231H -
+/+ Unknown c.704T>A p.I235N -
+/+ Unknown c.716T>C p.L239P -
+/+ Unknown c.722T>G p.V241G -
+/+ Unknown c.724G>A p.D242N -
+/+ Unknown c.727C>T p.R243C -
+/+ Unknown c.728G>A p.R243H -
+/+ Unknown c.728G>C p.R243P -
+/+ Unknown c.742T>C p.W248R -
+/+ Unknown c.744G>C p.W248C -
+/+ Unknown c.749T>A p.L250H -
+/+ Unknown c.749T>C p.L250P -
+/+ Unknown c.752T>C p.L251P -
+/+ Unknown c.760G>A p.V254M -
+/+ Unknown c.760G>T p.V254L -
+/+ Unknown c.772C>A p.H258N -
+/+ Unknown c.773A>G p.H258R -
+/+ Unknown c.775C>T p.R259C -
+/+ Unknown c.776G>A p.R259H -
+/+ Unknown c.776G>T p.R259L -
+/+ Unknown c.781G>A p.E261K -
+/+ Unknown c.781G>C p.E261Q -
+/+ Unknown c.781G>T p.E261X -
+/+ Unknown c.783G>C p.E261D -
+/+ Unknown c.784C>G p.L262V -
+/+ Unknown c.794C>T p.T265I -
+/+ Unknown c.797T>C p.L266P -
+/+ Unknown c.803T>G p.I268S -
+/+ Unknown c.805G>A p.G269S -
+/+ Unknown c.806G>A p.G269D -
+/+ Unknown c.815G>A p.G272D -
+/+ Unknown c.817C>T p.L273F -
+/+ Unknown c.818T>G p.L273R -
+/+ Unknown c.820A>G p.I274V -
+/+ Unknown c.824T>C p.F275S -
+/+ Unknown c.829T>C p.S277P -
+/+ Unknown c.830C>G p.S277W -
+/+ Unknown c.830C>T p.S277L -
+/+ Unknown c.832T>C p.Y278H -
+/+ Unknown c.839T>A p.V280E -
+/+ Unknown c.842A>G p.Y281C -
+/+ Unknown c.845T>C p.L282P -
+/+ Unknown c.848C>G p.A283G -
+/+ Unknown c.850G>A p.E284K -
+/+ Unknown c.860C>A p.A287E -
+/+ Unknown c.868G>A p.E290K -
+/+ Unknown c.875G>A p.G292D -
+/+ Unknown c.877C>T p.R293C -
+/+ Unknown c.887T>C p.F296S -
+/+ Unknown c.898G>A p.A300T -
+/+ Unknown c.904G>A p.A302T -
+/+ Unknown c.905C>A p.A302E -
+/+ Unknown c.905C>T p.A302V -
+/+ Unknown c.908T>C p.L303P -
+/+ Unknown c.910T>C p.W304R -
+/+ Unknown c.913T>C p.W305R -
+/+ Unknown c.914G>A p.W305X -
+/+ Unknown c.914G>C p.W305S -
+/+ Unknown c.916G>A p.G306R -
+/+ Unknown c.916G>C p.G306R -
+/+ Unknown c.917G>T p.G306V -
+/+ Unknown c.919G>C p.V307L -
+/+ Unknown c.923T>A p.V308D -
+/+ Unknown c.926C>G p.T309R -
+/+ Unknown c.926C>T p.T309I -
+/+ Unknown c.928G>A p.V310I -
+/+ Unknown c.932C>T p.T311I -
+/+ Unknown c.935C>T p.T312I -
+/+ Unknown c.939C>G p.I313M -
+/+ Unknown c.940G>A p.G314S -
+/+ Unknown c.940G>C p.G314R -
+/+ Unknown c.940G>T p.G314C -
+/+ Unknown c.941G>A p.G314D -
+/+ Unknown c.941G>C p.G314A -
+/+ Unknown c.944A>C p.Y315S -
+/+ Unknown c.944A>G p.Y315C -
+/+ Unknown c.944A>T p.Y315F -
+/+ Unknown c.946G>A p.G316R -
+/+ Unknown c.946G>C p.G316R -
+/+ Unknown c.947G>A p.G316E -
+/+ Unknown c.947G>T p.G316V -
+/+ Unknown c.949G>A p.D317N -
+/+ Unknown c.950A>G p.D317G -
+/+ Unknown c.954G>C p.K318N -
+/+ Unknown c.958C>G p.P320A -
+/+ Unknown c.958C>T p.P320S -
+/+ Unknown c.959C>A p.P320H -
+/+ Unknown c.964A>G p.T322A -
+/+ Unknown c.965C>A p.T322K -
+/+ Unknown c.965C>T p.T322M -
+/+ Unknown c.973G>A p.G325R -
+/+ Unknown c.1013C>T p.S338F -
+/+ Unknown c.1016T>A p.F339Y -
+/+ Unknown c.1016T>C p.F339S -
+/+ Unknown c.1022C>A p.A341E -
+/+ Unknown c.1022C>G p.A341G -
+/+ Unknown c.1022C>T p.A341V -
+/+ Unknown c.1024C>T p.L342F -
+/+ Unknown c.1027C>T p.P343S -
+/+ Unknown c.1028C>G p.P343R -
+/+ Unknown c.1028C>T p.P343L -
+/+ Unknown c.1031C>A p.A344E -
+/+ Unknown c.1031C>T p.A344V -
+/+ Unknown c.1033G>C p.G345R -
+/+ Unknown c.1034G>A p.G345E -
+/+ Unknown c.1045T>C p.S349P -
+/+ Unknown c.1046C>A p.S349X -
+/+ Unknown c.1046C>G p.S349W -
+/+ Unknown c.1048G>A p.G350R -
+/+ Unknown c.1048G>C p.G350R -
+/+ Unknown c.1052T>C p.F351S -
+/+ Unknown c.1058T>C p.L353P -
+/+ Unknown c.1061A>G p.K354R -
+/+ Unknown c.1066C>T p.Q356X -
+/+ Unknown c.1070A>G p.Q357R -
+/+ Unknown c.1075C>T p.Q359X -
+/+ Unknown c.1078A>G p.R360G -
+/+ Unknown c.1079G>C p.R360T -
+/+ Unknown c.1079G>T p.R360M -
+/+ Unknown c.1085A>G p.K362R -
+/+ Unknown c.1087C>A p.H363N -
+/+ Unknown c.1093A>C p.N365H -
+/+ Unknown c.1096C>T p.R366W -
+/+ Unknown c.1097G>A p.R366Q -
+/+ Unknown c.1097G>C p.R366P -
+/+ Unknown c.1101G>T p.Q367H -
+/+ Unknown c.1111G>A p.A371T -
+/+ Unknown c.1115C>A p.A372D -
+/+ Unknown c.1117T>C p.S373P -
+/+ Unknown c.1121T>A p.L374H -
+/+ Unknown c.1135T>C p.W379R -
+/+ Unknown c.1135T>G p.W379G -
+/+ Unknown c.1136G>C p.W379S -
+/+ Unknown c.1138A>G p.R380G -
+/+ Unknown c.1140G>T p.R380S -
+/+ Unknown c.1153G>A p.E385K -
+/+ Unknown c.1165T>C p.S389P -
+/+ Unknown c.1166C>A p.S389Y -
+/+ Unknown c.1172C>T p.T391I -
+/+ Unknown c.1174T>C p.W392R -
+/+ Unknown c.1178A>T p.K393M -
+/+ Unknown c.1179G>C p.K393N -
+/+ Unknown c.1189C>T p.R397W -
+/+ Unknown c.1193A>G p.K398R -
+/+ Unknown c.1338C>G p.D446E -
+/+ Unknown c.1343C>G p.P448R -
+/+ Unknown c.1343C>T p.P448L -
+/+ Unknown c.1351C>T p.R451W -
+/+ Unknown c.1352G>A p.R451Q -
+/+ Unknown c.1354C>T p.R452W -
+/+ Unknown c.1363C>T p.H455Y -
+/+ Unknown c.1378G>A p.G460S -
+/+ Unknown c.1430C>T p.P477L -
+/+ Unknown c.1513C>T p.Q505X -
+/+ Unknown c.1531C>T p.R511W -
+/+ Unknown c.1541T>C p.I514T -
+/+ Unknown c.1550T>C p.I517T -
+/+ Unknown c.1552C>G p.R518G -
+/+ Unknown c.1552C>T p.R518X -
+/+ Unknown c.1553G>A p.R518Q -
+/+ Unknown c.1553G>C p.R518P -
+/+ Unknown c.1555C>T p.R519C -
+/+ Unknown c.1559T>G p.M520R -
+/+ Unknown c.1565A>C p.Y522S -
+/+ Unknown c.1571T>G p.V524G -
+/+ Unknown c.1573G>A p.A525T -
+/+ Unknown c.1574C>T p.A525V -
+/+ Unknown c.1576A>G p.K526E -
+/+ Unknown c.1588C>T p.Q530X -
+/+ Unknown c.1591C>T p.Q531X -
+/+ Unknown c.1597C>T p.R533W -
+/+ Unknown c.1608C>A p.Y536X -
+/+ Unknown c.1615C>T p.R539W -
+/+ Unknown c.1616G>A p.R539Q -
+/+ Unknown c.1621G>A p.V541I -
+/+ Unknown c.1627G>A p.E543K -
+/+ Unknown c.1637C>T p.S546L -
+/+ Unknown c.1640A>G p.Q547R -
+/+ Unknown c.1643G>A p.G548D -
+/+ Unknown c.1661T>C p.V554A -
+/+ Unknown c.1663C>A p.R555S -
+/+ Unknown c.1663C>T p.R555C -
+/+ Unknown c.1664G>A p.R555H -
+/+ Unknown c.1669A>G p.K557E -
+/+ Unknown c.1685G>T p.R562M -
+/+ Unknown c.1696T>C p.S566P -
+/+ Unknown c.1697C>A p.S566Y -
+/+ Unknown c.1697C>T p.S566F -
+/+ Unknown c.1700T>C p.I567T -
+/+ Unknown c.1700T>G p.I567S -
+/+ Unknown c.1702G>A p.G568R -
+/+ Unknown c.1703G>C p.G568A -
+/+ Unknown c.1705A>G p.K569E -
+/+ Unknown c.1712C>T p.S571L -
+/+ Unknown c.1719C>A p.F573L -
+/+ Unknown c.1747C>T p.R583C -
+/+ Unknown c.1748G>A p.R583H -
+/+ Unknown c.1750G>A p.G584S -
+/+ Unknown c.1756A>G p.N586D -
+/+ Unknown c.1760C>T p.T587M -
+/+ Unknown c.1766G>A p.G589D -
+/+ Unknown c.1768G>A p.A590T -
+/+ Unknown c.1771C>T p.R591C -
+/+ Unknown c.1772G>A p.R591H -
+/+ Unknown c.1781G>A p.R594Q -
+/+ Unknown c.1781G>C p.R594P -
+/+ Unknown c.1786G>A p.E596K -
+/+ Unknown c.1793A>G p.K598R -
+/+ Unknown c.1799C>T p.T600M -
+/+ Unknown c.1831G>A p.D611N -
+/+ Unknown c.1831G>T p.D611Y -
+/+ Unknown c.1855T>A p.L619M -
+/+ Unknown c.1876G>A p.G626S -
+/+ Unknown c.1888C>G p.P630A -
+/+ Unknown c.1903G>A p.G635R -
+/+ Unknown c.1927G>A p.G643S -
+/+ Unknown c.1986C>G p.Y662X -

168 entries in MECP2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.1A>T p.M1L -
+/+ Unknown c.28G>C p.E10Q -
+/+ Unknown c.28G>T p.E10X -
+/+ Unknown c.46C>T p.Q16X -
+/+ Unknown c.55C>T p.Q19X -
+/+ Unknown c.64A>T p.K22X -
+/+ Unknown c.139C>T p.Q47X -
+/+ Unknown c.146C>A p.S49X -
+/+ Unknown c.194C>G p.S65X -
+/+ Unknown c.203C>G p.S68X -
+/+ Unknown c.289G>T p.D97Y -
+/+ Unknown c.291C>A p.D97E -
+/+ Unknown c.298C>G p.L100V -
+/+ Unknown c.299T>G p.L100R -
+/+ Unknown c.301C>A p.P101T -
+/+ Unknown c.301C>T p.P101S -
+/+ Unknown c.302C>A p.P101H -
+/+ Unknown c.302C>G p.P101R -
+/+ Unknown c.302C>T p.P101L -
+/+ Unknown c.310T>C p.W104R -
+/+ Unknown c.311G>A p.W104X -
+/+ Unknown c.316C>G p.R106G -
+/+ Unknown c.316C>T p.R106W -
+/+ Unknown c.317G>A p.R106Q -
+/+ Unknown c.323T>A p.L108H -
+/+ Unknown c.331A>G p.R111G -
+/+ Unknown c.334A>T p.K112X -
+/+ Unknown c.337T>C p.S113P -
+/+ Unknown c.343C>T p.R115C -
+/+ Unknown c.358T>G p.Y120D -
+/+ Unknown c.364G>A p.V122M -
+/+ Unknown c.372G>C p.L124F -
+/+ Unknown c.376A>T p.N126Y -
+/+ Unknown c.377A>G p.N126S -
+/+ Unknown c.380C>T p.P127L -
+/+ Unknown c.382C>T p.Q128X -
+/+ Unknown c.383A>C p.Q128P -
+/+ Unknown c.386G>T p.G129V -
+/+ Unknown c.392C>A p.A131D -
+/+ Unknown c.397C>G p.R133G -
+/+ Unknown c.397C>T p.R133C -
+/+ Unknown c.398G>A p.R133H -
+/+ Unknown c.398G>C p.R133P -
+/+ Unknown c.398G>T p.R133L -
+/+ Unknown c.400T>C p.S134P -
+/+ Unknown c.401C>G p.S134C -
+/+ Unknown c.401C>T p.S134F -
+/+ Unknown c.403A>G p.K135E -
+/+ Unknown c.410A>G p.E137G -
+/+ Unknown c.413T>A p.L138X -
+/+ Unknown c.419C>T p.A140V -
+/+ Unknown c.422A>G p.Y141C -
+/+ Unknown c.423C>A p.Y141X -
+/+ Unknown c.423C>G p.Y141X -
+/+ Unknown c.430A>T p.K144X -
+/+ Unknown c.452A>G p.D151G -
+/+ Unknown c.453C>G p.D151E -
+/+ Unknown c.454C>G p.P152A -
+/+ Unknown c.455C>G p.P152R -
+/+ Unknown c.463T>A p.F155I -
+/+ Unknown c.464T>C p.F155S -
+/+ Unknown c.464T>G p.F155C -
+/+ Unknown c.466G>C p.D156H -
+/+ Unknown c.467A>C p.D156A -
+/+ Unknown c.467A>G p.D156G -
+/+ Unknown c.468C>A p.D156E -
+/+ Unknown c.469T>A p.F157I -
+/+ Unknown c.469T>C p.F157L -
+/+ Unknown c.471C>A p.F157L -
+/+ Unknown c.471C>G p.F157L -
+/+ Unknown c.472A>G p.T158A -
+/+ Unknown c.473C>T p.T158M -
+/+ Unknown c.481G>A p.G161R -
+/+ Unknown c.481G>T p.G161W -
+/+ Unknown c.482G>A p.G161E -
+/+ Unknown c.482G>T p.G161V -
+/+ Unknown c.499C>T p.R167W -
+/+ Unknown c.502C>T p.R168X -
+/+ Unknown c.508C>T p.Q170X -
+/+ Unknown c.523A>T p.K175X -
+/+ Unknown c.529A>T p.K177X -
+/+ Unknown c.538A>T p.K180X -
+/+ Unknown c.542C>T p.A181V -
+/+ Unknown c.587C>G p.T196S -
+/+ Unknown c.590C>T p.T197M -
+/+ Unknown c.592A>T p.R198X -
+/+ Unknown c.598A>T p.K200X -
+/+ Unknown c.602C>T p.A201V -
+/+ Unknown c.611C>G p.S204X -
+/+ Unknown c.613G>T p.E205X -
+/+ Unknown c.617G>C p.G206A -
+/+ Unknown c.622C>T p.Q208X -
+/+ Unknown c.629A>T p.K210I -
+/+ Unknown c.674C>G p.P225R -
+/+ Unknown c.674C>T p.P225L -
+/+ Unknown c.683C>G p.T228S -
+/+ Unknown c.710G>T p.G237V -
+/+ Unknown c.730C>T p.Q244X -
+/+ Unknown c.748C>T p.R250C -
+/+ Unknown c.760A>T p.K254X -
+/+ Unknown c.763C>T p.R255X -
+/+ Unknown c.766A>T p.K256X -
+/+ Unknown c.784C>T p.Q262X -
+/+ Unknown c.799A>T p.K267X -
+/+ Unknown c.802C>T p.R268W -
+/+ Unknown c.808C>T p.R270X -
+/+ Unknown c.814C>T p.P272S -
+/+ Unknown c.836C>T p.A279V -
+/+ Unknown c.850A>G p.K284E -
+/+ Unknown c.857A>G p.K286R -
+/+ Unknown c.862G>A p.V288M -
+/+ Unknown c.865A>T p.K289X -
+/+ Unknown c.880C>G p.R294G -
+/+ Unknown c.880C>T p.R294X -
+/+ Unknown c.889C>T p.Q297X -
+/+ Unknown c.898G>A p.V300I -
+/+ Unknown c.904C>A p.P302T -
+/+ Unknown c.904C>G p.P302A -
+/+ Unknown c.904C>T p.P302S -
+/+ Unknown c.905C>A p.P302H -
+/+ Unknown c.905C>G p.P302R -
+/+ Unknown c.905C>T p.P302L -
+/+ Unknown c.908T>G p.I303S -
+/+ Unknown c.909C>G p.I303M -
+/+ Unknown c.910A>C p.K304Q -
+/+ Unknown c.910A>G p.K304E -
+/+ Unknown c.911A>G p.K304R -
+/+ Unknown c.913A>G p.K305E -
+/+ Unknown c.914A>G p.K305R -
+/+ Unknown c.916C>T p.R306C -
+/+ Unknown c.917G>A p.R306H -
+/+ Unknown c.917G>T p.R306L -
+/+ Unknown c.925C>T p.R309W -
+/+ Unknown c.932C>T p.T311M -
+/+ Unknown c.953A>C p.E318A -
+/+ Unknown c.964C>A p.P322T -
+/+ Unknown c.964C>G p.P322A -
+/+ Unknown c.964C>T p.P322S -
+/+ Unknown c.965C>T p.P322L -
+/+ Unknown c.982C>G p.L328V -
+/+ Unknown c.1030C>T p.R344W -
+/+ Unknown c.1061G>A p.R354H -
+/+ Unknown c.1061G>T p.R354L -
+/+ Unknown c.1072G>A p.A358T -
+/+ Unknown c.1075T>C p.S359P -
+/+ Unknown c.1079C>A p.S360X -
+/+ Unknown c.1087A>T p.K363X -
+/+ Unknown c.1126C>T p.P376S -
+/+ Unknown c.1127C>G p.P376R -
+/+ Unknown c.1133C>G p.A378G -
+/+ Unknown c.1162C>A p.P388T -
+/+ Unknown c.1162C>T p.P388S -
+/+ Unknown c.1163C>T p.P388L -
+/+ Unknown c.1189G>A p.E397K -
+/+ Unknown c.1196C>T p.P399L -
+/+ Unknown c.1205C>T p.P402L -
+/+ Unknown c.1214C>T p.P405L -
+/+ Unknown c.1216C>T p.Q406X -
+/+ Unknown c.1250A>T p.K417M -
+/+ Unknown c.1255C>T p.P419S -
+/+ Unknown c.1282G>A p.G428S -
+/+ Unknown c.1357C>T p.R453X -
+/+ Unknown c.1358G>A p.R453Q -
+/+ Unknown c.1363G>T p.E455X -
+/+ Unknown c.1459T>C p.X487R -
+/+ Unknown c.1460G>T p.X487L -
+/+ Unknown c.1461A>C p.X487C -
+/+ Unknown c.1461A>G p.X487W -

5 entries in MYO6

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
Disease Phenotype Descending
Ascending
Variant remarks Descending
Ascending
+/+ Unknown c.647A>T p.E216V - Deafness, autosomal recessive Ahmed (2003) Am J Hum Genet 72:1315
+/+ Unknown c.737A>G p.H246R - Cardiomyopathy, hypertrophic with deafness Mohiddin (2004) J Med Genet 41:309
+/+ Unknown c.1325G>A p.C442Y - Deafness, autosomal dominant 22 Melchionda (2001) Am J Hum Genet 69:635
+/+ Unknown c.2545C>T p.R849X - Deafness, autosomal dominant 22 Sanggaard (2008) Am J Med Genet A 146A:1017
+/+ Unknown c.3496C>T p.R1166X - Deafness, autosomal recessive Ahmed (2003) Am J Hum Genet 72:1315

126 entries in MYO7A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.47T>A p.L16X -
+/+ Unknown c.47T>C p.L16S -
+/+ Unknown c.52C>T p.Q18X -
+/+ Unknown c.73G>A p.G25R -
+/+ Unknown c.77C>A p.A26E -
+/+ Unknown c.93C>A p.C31X -
+/+ Unknown c.199G>A p.V67M -
+/+ Unknown c.252C>G p.N84K -
+/+ Unknown c.269G>C p.R90P -
+/+ Unknown c.318C>A p.N106K -
+/+ Unknown c.395C>T p.P132L -
+/+ Unknown c.397C>G p.H133D -
+/+ Unknown c.401T>A p.I134N -
+/+ Unknown c.448C>T p.R150X -
+/+ Unknown c.470G>A p.S157N -
+/+ Unknown c.487G>A p.G163R -
+/+ Unknown c.487G>C p.G163R -
+/+ Unknown c.491A>G p.K164R -
+/+ Unknown c.494C>T p.T165M -
+/+ Unknown c.592G>A p.A198T -
+/+ Unknown c.610A>G p.T204A -
+/+ Unknown c.616C>T p.R206C -
+/+ Unknown c.617G>A p.R206H -
+/+ Unknown c.629C>G p.S210X -
+/+ Unknown c.634C>T p.R212C -
+/+ Unknown c.635G>A p.R212H -
+/+ Unknown c.640G>A p.G214R -
+/+ Unknown c.689C>T p.A230V -
+/+ Unknown c.700C>T p.Q234X -
+/+ Unknown c.721C>A p.R241S -
+/+ Unknown c.721C>G p.R241G -
+/+ Unknown c.721C>T p.R241C -
+/+ Unknown c.722G>A p.R241H -
+/+ Unknown c.731G>C p.R244P -
+/+ Unknown c.755A>G p.Y252C -
+/+ Unknown c.905G>A p.R302H -
+/+ Unknown c.940G>T p.E314X -
+/+ Unknown c.977T>A p.L326Q -
+/+ Unknown c.999T>G p.Y333X -
+/+ Unknown c.1007G>A p.R336H -
+/+ Unknown c.1097T>C p.L366P -
+/+ Unknown c.1132C>A p.R378S -
+/+ Unknown c.1142C>T p.T381M -
+/+ Unknown c.1190C>A p.A397D -
+/+ Unknown c.1258A>T p.K420X -
+/+ Unknown c.1309G>A p.D437N -
+/+ Unknown c.1325A>G p.E442G -
+/+ Unknown c.1348G>C p.E450Q -
+/+ Unknown c.1370C>T p.A457V -
+/+ Unknown c.1373A>T p.N458I -
+/+ Unknown c.1478A>C p.Q493P -
+/+ Unknown c.1508C>T p.P503L -
+/+ Unknown c.1556G>A p.G519D -
+/+ Unknown c.1591C>T p.Q531X -
+/+ Unknown c.1797G>A p.M599I -
+/+ Unknown c.1884C>A p.C628X -
+/+ Unknown c.1900C>T p.R634X -
+/+ Unknown c.1945C>T p.R649W -
+/+ Unknown c.1952T>C p.L651P -
+/+ Unknown c.1969C>T p.R657W -
+/+ Unknown c.1996C>T p.R666X -
+/+ Unknown c.2005C>T p.R669X -
+/+ Unknown c.2028C>G p.Y676X -
+/+ Unknown c.2164G>C p.G722R -
+/+ Unknown c.2266C>T p.R756W -
+/+ Unknown c.2302A>T p.K768X -
+/+ Unknown c.2323C>T p.Q775X -
+/+ Unknown c.2461C>T p.Q821X -
+/+ Unknown c.2476G>A p.A826T -
+/+ Unknown c.2513G>A p.W838X -
+/+ Unknown c.2557C>T p.R853C -
+/+ Unknown c.2863G>A p.G955S -
+/+ Unknown c.2878G>T p.E960X -
+/+ Unknown c.2904G>T p.E968D -
+/+ Unknown c.2914C>T p.R972X -
+/+ Unknown c.3134T>C p.I1045T -
+/+ Unknown c.3171C>G p.Y1057X -
+/+ Unknown c.3238A>T p.K1080X -
+/+ Unknown c.3260T>C p.L1087P -
+/+ Unknown c.3503G>C p.R1168P -
+/+ Unknown c.3508G>A p.E1170K -
+/+ Unknown c.3547C>A p.P1183T -
+/+ Unknown c.3652G>A p.G1218R -
+/+ Unknown c.3718C>T p.R1240W -
+/+ Unknown c.3719G>A p.R1240Q -
+/+ Unknown c.3731C>G p.P1244R -
+/+ Unknown c.3862G>C p.A1288P -
+/+ Unknown c.3979G>A p.E1327K -
+/+ Unknown c.4018G>C p.A1340P -
+/+ Unknown c.4029G>C p.R1343S -
+/+ Unknown c.4045G>A p.E1349K -
+/+ Unknown c.4117C>T p.R1373X -
+/+ Unknown c.4450C>T p.L1484F -
+/+ Unknown c.4475C>T p.A1492V -
+/+ Unknown c.4697C>T p.T1566M -
+/+ Unknown c.4740C>A p.Y1580X -
+/+ Unknown c.4805G>A p.R1602Q -
+/+ Unknown c.4882G>T p.A1628S -
+/+ Unknown c.4996A>T p.S1666C -
+/+ Unknown c.5101C>T p.R1701X -
+/+ Unknown c.5146G>T p.E1716X -
+/+ Unknown c.5156A>G p.Y1719C -
+/+ Unknown c.5215C>T p.R1739X -
+/+ Unknown c.5227C>T p.R1743W -
+/+ Unknown c.5309C>A p.A1770D -
+/+ Unknown c.5392C>T p.Q1798X -
+/+ Unknown c.5507T>C p.L1836P -
+/+ Unknown c.5573T>C p.L1858P -
+/+ Unknown c.5581C>T p.R1861X -
+/+ Unknown c.5617C>T p.R1873W -
+/+ Unknown c.5618G>A p.R1873Q -
+/+ Unknown c.5648G>A p.R1883Q -
+/+ Unknown c.5660C>T p.P1887L -
+/+ Unknown c.5686C>T p.Q1896X -
+/+ Unknown c.5749G>T p.E1917X -
+/+ Unknown c.5944G>A p.G1982R -
+/+ Unknown c.5945G>A p.G1982E -
+/+ Unknown c.5968C>T p.Q1990X -
+/+ Unknown c.6028G>A p.D2010N -
+/+ Unknown c.6043T>C p.Y2015H -
+/+ Unknown c.6070C>T p.R2024X -
+/+ Unknown c.6410G>A p.G2137E -
+/+ Unknown c.6487G>A p.G2163S -
+/+ Unknown c.6557T>C p.L2186P -
+/+ Unknown c.6560G>A p.G2187D -
+/+ Unknown c.6610G>C p.A2204P -

37 entries in OTOF

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.709C>T p.R237X -
+/+ Unknown c.765G>C p.Q255H -
+/+ Unknown c.1273C>T p.R425X -
+/+ Unknown c.1469C>A p.P490Q -
+/+ Unknown c.1544T>C p.I515T -
+/+ Unknown c.1607G>A p.W536X -
+/+ Unknown c.1718T>G p.L573R -
+/+ Unknown c.1841G>A p.G614E -
+/+ Unknown c.2122C>T p.R708X -
+/+ Unknown c.2239G>T p.E747X -
+/+ Unknown c.2381G>A p.R794H -
+/+ Unknown c.2464C>T p.R822W -
+/+ Unknown c.2485C>T p.Q829X -
+/+ Unknown c.2649C>A p.C883X -
+/+ Unknown c.2887C>T p.R963X -
+/+ Unknown c.2891C>A p.A964E -
+/+ Unknown c.3032T>C p.L1011P -
+/+ Unknown c.3239G>C p.R1080P -
+/+ Unknown c.3269C>A p.A1090E -
+/+ Unknown c.3400C>T p.R1134X -
+/+ Unknown c.3413T>C p.L1138P -
+/+ Unknown c.4275G>A p.W1425X -
+/+ Unknown c.4351G>T p.G1451X -
+/+ Unknown c.4483C>T p.R1495X -
+/+ Unknown c.4491T>A p.Y1497X -
+/+ Unknown c.4559G>A p.R1520Q -
+/+ Unknown c.4809C>G p.Y1603X -
+/+ Unknown c.4960G>A p.G1654S -
+/+ Unknown c.5197G>A p.E1733K -
+/+ Unknown c.5384T>G p.F1795C -
+/+ Unknown c.5431A>T p.K1811X -
+/+ Unknown c.5473C>G p.P1825A -
+/+ Unknown c.5567G>A p.R1856Q -
+/+ Unknown c.5785A>C p.N1929H -
+/+ Unknown c.5815C>T p.R1939W -
+/+ Unknown c.5816G>A p.R1939Q -
+/+ Unknown c.5960C>G p.P1987R -

17 entries in PCDH15

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.7C>T p.R3X -
+/+ Unknown c.400C>G p.R134G -
+/+ Unknown c.533A>G p.D178G -
+/+ Unknown c.733C>T p.R245X -
+/+ Unknown c.785G>A p.G262D -
+/+ Unknown c.868A>T p.R290X -
+/+ Unknown c.1036G>T p.E346X -
+/+ Unknown c.1583T>A p.V528D -
+/+ Unknown c.1927C>T p.R643X -
+/+ Unknown c.1940C>G p.S647X -
+/+ Unknown c.2052C>A p.Y684X -
+/+ Unknown c.2785C>T p.R929X -
+/+ Unknown c.2971C>T p.R991X -
+/+ Unknown c.3121A>T p.R1041X -
+/+ Unknown c.3316C>T p.R1106X -
+/+ Unknown c.4024C>A p.Q1342K -
+/+ Unknown c.5557A>C p.M1853L -

84 entries in PRF1

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
+/+ Unknown - c.1A>G p.M1V
+/+ Unknown - c.3G>A p.M1I
+/+ Unknown - c.112G>A p.V38M
+/+ Unknown - c.116C>A p.P39H
+/+ Unknown - c.133G>A p.G45R
+/+ Unknown - c.134G>A p.G45E
+/+ Unknown - c.136G>T p.E46X
+/+ Unknown - c.148G>A p.V50M
+/+ Unknown - c.160C>T p.R54C
+/+ Unknown - c.190C>T p.Q64X
+/+ Unknown - c.208G>T p.D70Y
+/+ Unknown - c.209A>T p.D70V
+/+ Unknown - c.217T>C p.C73R
+/+ Unknown - c.265C>A p.P89T
+/+ Unknown - c.272C>T p.A91V
+/+ Unknown - c.283T>C p.W95R
+/+ Unknown - c.305G>T p.C102F
+/+ Unknown - c.355C>T p.R119W
+/+ Unknown - c.368G>A p.R123H
+/+ Unknown - c.445G>A p.G149S
+/+ Unknown - c.445G>C p.G149R
+/+ Unknown - c.449C>A p.S150X
+/+ Unknown - c.469T>G p.F157V
+/+ Unknown - c.503G>A p.S168N
+/+ Unknown - c.508A>C p.S170R
+/+ Unknown - c.529C>T p.R177C
+/+ Unknown - c.548T>G p.V183G
+/+ Unknown - c.577T>C p.F193L
+/+ Unknown - c.601C>A p.P201T
+/+ Unknown - c.643C>A p.L215I
+/+ Unknown - c.657C>A p.Y219X
+/+ Unknown - c.658G>A p.G220S
+/+ Unknown - c.658G>C p.G220R
+/+ Unknown - c.662C>T p.T221I
+/+ Unknown - c.665A>G p.H222R
+/+ Unknown - c.666C>A p.H222Q
+/+ Unknown - c.671T>A p.I224N
+/+ Unknown - c.673C>T p.R225W
+/+ Unknown - c.674G>C p.R225P
+/+ Unknown - c.694C>T p.R232C
+/+ Unknown - c.695G>A p.R232H
+/+ Unknown - c.718C>G p.R240G
+/+ Unknown - c.719G>A p.R240H
+/+ Unknown - c.727G>T p.E243X
+/+ Unknown - c.755A>G p.N252S
+/+ Unknown - c.757G>A p.E253K
+/+ Unknown - c.781G>A p.E261K
+/+ Unknown - c.785C>A p.A262D
+/+ Unknown - c.836G>A p.C279Y
+/+ Unknown - c.893A>G p.E298G
+/+ Unknown - c.895C>T p.R299C
+/+ Unknown - c.902C>A p.S301X
+/+ Unknown - c.916G>A p.G306S
+/+ Unknown - c.916G>T p.G306C
+/+ Unknown - c.938A>T p.D313V
+/+ Unknown - c.949G>A p.G317R
+/+ Unknown - c.1000G>A p.G334S
+/+ Unknown - c.1034C>T p.P345L
+/+ Unknown - c.1066C>T p.R356W
+/+ Unknown - c.1069C>T p.R357W
+/+ Unknown - c.1081A>T p.R361W
+/+ Unknown - c.1122G>A p.W374X
+/+ Unknown - c.1168C>T p.R390X
+/+ Unknown - c.1228C>T p.R410W
+/+ Unknown - c.1229G>C p.R410P
+/+ Unknown - c.1246C>T p.Q416X
+/+ Unknown - c.1262T>G p.F421C
+/+ Unknown - c.1283G>A p.W428X
+/+ Unknown - c.1284G>A p.W428X
+/+ Unknown - c.1286G>A p.G429E
+/+ Unknown - c.1288G>T p.D430Y
+/+ Unknown - c.1304C>T p.T435M
+/+ Unknown - c.1313A>G p.Y438C
+/+ Unknown - c.1314T>A p.Y438X
+/+ Unknown - c.1337A>G p.Q446R
+/+ Unknown - c.1349C>T p.T450M
+/+ Unknown - c.1361G>A p.W454X
+/+ Unknown - c.1429C>G p.P477A
+/+ Unknown - c.1442A>C p.Q481P
+/+ Unknown - c.1471G>A p.D491N
+/+ Unknown - c.1491T>A p.C497X
+/+ Unknown - c.1568C>A p.A523D
+/+ Unknown - c.1574G>C p.C525S
+/+ Unknown - c.1620A>G p.Q540Q

11 entries in RAB27A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+? Unknown c.127G>A p.G43S -
+/+? Unknown c.131T>C p.I44T -
+/+? Unknown c.217T>G p.W73G -
+/+? Unknown c.259G>C p.A87P -
+/+? Unknown c.346C>T p.Q116X -
+/+? Unknown c.352C>T p.Q118X -
+/+? Unknown c.389T>C p.L130P -
+/+? Unknown c.400A>G p.K134E -
+/+? Unknown c.454G>C p.A152P -
+/+? Unknown c.550C>T p.R184X -
+/+? Unknown c.598C>T p.R200X -

36 entries in SERPINA1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.17C>T p.S6L -
+/+ Unknown c.115C>A p.H39N -
+/+ Unknown c.187C>T p.R63C -
+/+ Unknown c.194T>C p.L65P -
+/+ Unknown c.230C>T p.S77F -
+/+ Unknown c.250G>A p.A84T -
+/+ Unknown c.272G>A p.G91E -
+/+ Unknown c.275C>T p.T92I -
+/+ Unknown c.326C>T p.T109M -
+/+ Unknown c.347T>A p.I116N -
+/+ Unknown c.374G>A p.R125H -
+/+ Unknown c.386A>C p.Q129P -
+/+ Unknown c.415G>A p.G139S -
+/+ Unknown c.514G>A p.G172R -
+/+ Unknown c.552C>G p.Y184X -
+/+ Unknown c.654G>A p.W218X -
+/+ Unknown c.682G>A p.E228K -
+/+ Unknown c.710T>C p.V237A -
+/+ Unknown c.721A>T p.K241X -
+/+ Unknown c.739C>T p.R247C -
+/+ Unknown c.745G>C p.G249R -
+/+ Unknown c.839A>T p.D280V -
+/+ Unknown c.847A>T p.K283X -
+/+ Unknown c.848A>T p.K283I -
+/+ Unknown c.863A>T p.E288V -
+/+ Unknown c.875C>T p.T292I -
+/+ Unknown c.880G>A p.D294N -
+/+ Unknown c.1075A>G p.K359E -
+/+ Unknown c.1078G>A p.A360T -
+/+ Unknown c.1093G>A p.D365N -
+/+ Unknown c.1096G>A p.E366K -
+/+ Unknown c.1145T>G p.M382R -
+/+ Unknown c.1177C>T p.P393S -
+/+ Unknown c.1178C>T p.P393L -
+/+ Unknown c.1200A>C p.E400D -
+/+ Unknown c.1244C>A p.P415H -

34 entries in SH2D1A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.2T>C p.M1T -
+/+ Unknown c.3G>T p.M1I -
+/+ Unknown c.20A>G p.Y7C -
+/+ Unknown c.22C>G p.H8D -
+/+ Unknown c.23A>C p.H8P -
+/+ Unknown c.47G>A p.G16D -
+/+ Unknown c.64G>C p.A22P -
+/+ Unknown c.79G>A p.G27S -
+/+ Unknown c.84C>G p.S28R -
+/+ Unknown c.92T>C p.L31P -
+/+ Unknown c.95G>C p.R32T -
+/+ Unknown c.97G>T p.D33Y -
+/+ Unknown c.100A>G p.S34G -
+/+ Unknown c.116G>T p.G39V -
+/+ Unknown c.126C>G p.C42W -
+/+ Unknown c.146G>T p.G49V -
+/+ Unknown c.158C>T p.T53I -
+/+ Unknown c.161A>G p.Y54C -
+/+ Unknown c.163C>T p.R55X -
+/+ Unknown c.164G>T p.R55L -
+/+ Unknown c.169T>C p.S57P -
+/+ Unknown c.172C>T p.Q58X -
+/+ Unknown c.191G>A p.W64X -
+/+ Unknown c.203C>T p.T68I -
+/+ Unknown c.228T>A p.Y76X -
+/+ Unknown c.251T>C p.I84T -
+/+ Unknown c.260T>C p.F87S -
+/+ Unknown c.263A>C p.Q88P -
+/+ Unknown c.278G>A p.G93D -
+/+ Unknown c.296A>C p.Q99P -
+/+ Unknown c.300T>A p.Y100X -
+/+ Unknown c.302C>T p.P101L -
+/+ Unknown c.305T>G p.V102G -
+/+ Unknown c.385T>A p.X129R -

173 entries in SLC26A4

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.2T>C p.M1T -
+/+ Unknown c.3G>A p.M1I -
+/+ Unknown c.28C>A p.P10T -
+/+ Unknown c.68C>A p.S23X -
+/+ Unknown c.70C>G p.R24G -
+/+ Unknown c.71G>T p.R24L -
+/+ Unknown c.82A>C p.S28R -
+/+ Unknown c.84C>A p.S28R -
+/+ Unknown c.85G>C p.E29Q -
+/+ Unknown c.109G>T p.E37X -
+/+ Unknown c.149T>G p.L50R -
+/+ Unknown c.170C>A p.S57X -
+/+ Unknown c.200C>G p.T67S -
+/+ Unknown c.226C>T p.P76S -
+/+ Unknown c.227C>T p.P76L -
+/+ Unknown c.230A>T p.K77I -
+/+ Unknown c.233A>G p.Y78C -
+/+ Unknown c.235C>T p.R79X -
+/+ Unknown c.259G>T p.D87Y -
+/+ Unknown c.269C>T p.S90L -
+/+ Unknown c.281C>T p.T94I -
+/+ Unknown c.296C>G p.T99R -
+/+ Unknown c.304G>A p.G102R -
+/+ Unknown c.311C>T p.A104V -
+/+ Unknown c.314A>G p.Y105C -
+/+ Unknown c.317C>A p.A106D -
+/+ Unknown c.334C>T p.P112S -
+/+ Unknown c.349C>T p.L117F -
+/+ Unknown c.367C>T p.P123S -
+/+ Unknown c.395C>T p.T132I -
+/+ Unknown c.397T>A p.S133T -
+/+ Unknown c.398C>A p.S133X -
+/+ Unknown c.404A>G p.H135R -
+/+ Unknown c.409T>C p.S137P -
+/+ Unknown c.412G>C p.V138L -
+/+ Unknown c.412G>T p.V138F -
+/+ Unknown c.416G>C p.G139A -
+/+ Unknown c.416G>T p.G139V -
+/+ Unknown c.419C>A p.P140H -
+/+ Unknown c.425C>G p.P142R -
+/+ Unknown c.439A>G p.M147V -
+/+ Unknown c.440T>C p.M147T -
+/+ Unknown c.497G>A p.S166N -
+/+ Unknown c.565G>T p.A189S -
+/+ Unknown c.578C>T p.T193I -
+/+ Unknown c.589G>A p.G197R -
+/+ Unknown c.596T>C p.I199T -
+/+ Unknown c.611G>T p.G204V -
+/+ Unknown c.626G>A p.G209E -
+/+ Unknown c.626G>T p.G209V -
+/+ Unknown c.691G>A p.V231M -
+/+ Unknown c.697G>C p.V233L -
+/+ Unknown c.707T>C p.L236P -
+/+ Unknown c.716T>A p.V239D -
+/+ Unknown c.749T>C p.V250A -
+/+ Unknown c.754T>C p.S252P -
+/+ Unknown c.796G>A p.D266N -
+/+ Unknown c.811G>C p.D271H -
+/+ Unknown c.812A>G p.D271G -
+/+ Unknown c.849G>C p.M283I -
+/+ Unknown c.907G>C p.E303Q -
+/+ Unknown c.920C>T p.T307M -
+/+ Unknown c.941C>A p.S314X -
+/+ Unknown c.946G>T p.G316X -
+/+ Unknown c.964A>G p.N322D -
+/+ Unknown c.970A>T p.N324Y -
+/+ Unknown c.1001G>T p.G334V -
+/+ Unknown c.1003T>C p.F335L -
+/+ Unknown c.1004T>C p.F335S -
+/+ Unknown c.1061T>C p.F354S -
+/+ Unknown c.1079C>T p.A360V -
+/+ Unknown c.1105A>G p.K369E -
+/+ Unknown c.1115C>T p.A372V -
+/+ Unknown c.1124A>G p.Y375C -
+/+ Unknown c.1151A>G p.E384G -
+/+ Unknown c.1160C>T p.A387V -
+/+ Unknown c.1172G>A p.S391N -
+/+ Unknown c.1173C>A p.S391R -
+/+ Unknown c.1174A>T p.N392Y -
+/+ Unknown c.1175A>G p.N392S -
+/+ Unknown c.1195T>C p.S399P -
+/+ Unknown c.1204G>A p.V402M -
+/+ Unknown c.1225C>T p.R409C -
+/+ Unknown c.1226G>A p.R409H -
+/+ Unknown c.1226G>C p.R409P -
+/+ Unknown c.1229C>T p.T410M -
+/+ Unknown c.1231G>A p.A411T -
+/+ Unknown c.1231G>C p.A411P -
+/+ Unknown c.1238A>C p.Q413P -
+/+ Unknown c.1246A>C p.T416P -
+/+ Unknown c.1259C>T p.T420I -
+/+ Unknown c.1262A>C p.Q421P -
+/+ Unknown c.1262A>G p.Q421R -
+/+ Unknown c.1262A>T p.Q421L -
+/+ Unknown c.1265T>A p.V422D -
+/+ Unknown c.1271G>A p.G424D -
+/+ Unknown c.1315G>A p.G439R -
+/+ Unknown c.1318A>T p.K440X -
+/+ Unknown c.1322T>C p.L441P -
+/+ Unknown c.1334T>G p.L445W -
+/+ Unknown c.1336C>T p.Q446X -
+/+ Unknown c.1337A>G p.Q446R -
+/+ Unknown c.1343C>A p.S448X -
+/+ Unknown c.1343C>T p.S448L -
+/+ Unknown c.1363A>T p.I455F -
+/+ Unknown c.1371C>A p.N457K -
+/+ Unknown c.1409G>A p.R470H -
+/+ Unknown c.1439T>A p.V480D -
+/+ Unknown c.1454C>G p.T485R -
+/+ Unknown c.1468A>C p.I490L -
+/+ Unknown c.1472T>C p.I491T -
+/+ Unknown c.1489G>A p.G497S -
+/+ Unknown c.1489G>C p.G497R -
+/+ Unknown c.1523C>A p.T508N -
+/+ Unknown c.1540C>A p.Q514K -
+/+ Unknown c.1540C>T p.Q514X -
+/+ Unknown c.1541A>G p.Q514R -
+/+ Unknown c.1544T>G p.F515C -
+/+ Unknown c.1579A>C p.T527P -
+/+ Unknown c.1586T>G p.I529S -
+/+ Unknown c.1588T>C p.Y530H -
+/+ Unknown c.1589A>C p.Y530S -
+/+ Unknown c.1594A>C p.S532R -
+/+ Unknown c.1625C>G p.P542R -
+/+ Unknown c.1634T>A p.V545E -
+/+ Unknown c.1634T>C p.V545A -
+/+ Unknown c.1649T>A p.F550Y -
+/+ Unknown c.1655G>T p.S552I -
+/+ Unknown c.1666T>C p.Y556H -
+/+ Unknown c.1667A>G p.Y556C -
+/+ Unknown c.1673A>T p.N558I -
+/+ Unknown c.1674T>G p.N558K -
+/+ Unknown c.1693T>C p.C565R -
+/+ Unknown c.1694G>A p.C565Y -
+/+ Unknown c.1716T>A p.F572L -
+/+ Unknown c.1717G>T p.D573Y -
+/+ Unknown c.1743G>C p.R581S -
+/+ Unknown c.1786C>T p.Q596X -
+/+ Unknown c.1790T>C p.L597S -
+/+ Unknown c.1826T>G p.V609G -
+/+ Unknown c.1829C>A p.S610X -
+/+ Unknown c.1864G>A p.E622K -
+/+ Unknown c.1870C>G p.L624V -
+/+ Unknown c.1873G>T p.E625X -
+/+ Unknown c.1880T>G p.L627R -
+/+ Unknown c.1958T>C p.V653A -
+/+ Unknown c.1970G>A p.S657N -
+/+ Unknown c.1975G>C p.V659L -
+/+ Unknown c.1997C>T p.S666F -
+/+ Unknown c.2000T>G p.F667C -
+/+ Unknown c.2005G>A p.D669N -
+/+ Unknown c.2015G>A p.G672E -
+/+ Unknown c.2027T>A p.L676Q -
+/+ Unknown c.2048T>C p.F683S -
+/+ Unknown c.2054G>T p.R685I -
+/+ Unknown c.2069T>C p.V690A -
+/+ Unknown c.2080T>C p.S694P -
+/+ Unknown c.2090A>C p.D697A -
+/+ Unknown c.2139T>G p.I713M -
+/+ Unknown c.2141G>A p.R714K -
+/+ Unknown c.2145G>T p.K715N -
+/+ Unknown c.2162C>T p.T721M -
+/+ Unknown c.2167C>G p.H723D -
+/+ Unknown c.2168A>G p.H723R -
+/+ Unknown c.2170G>A p.D724N -
+/+ Unknown c.2171A>G p.D724G -
+/+ Unknown c.2176A>G p.I726V -
+/+ Unknown c.2211G>C p.E737D -
+/+ Unknown c.2218G>A p.G740S -
+/+ Unknown c.2219G>T p.G740V -
+/+ Unknown c.2324T>C p.M775T -
+/+ Unknown c.2326C>T p.R776C -
+/+ Unknown c.2343A>G p.X781W -

1 entry in STX11

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
+/+ Unknown - c.802C>T p.Q268X

5 entries in STXBP2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+? Unknown c.626T>C p.L209P -
+/+? Unknown c.875G>A p.R292H -
+/+? Unknown c.1213C>T p.R405W -
+/+? Unknown c.1214G>A p.R405Q -
+/+? Unknown c.1430C>T p.P477L -

21 entries in TMC1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.100C>T p.R34X -
+/+ Unknown c.776A>G p.Y259C -
+/+ Unknown c.821C>T p.P274L -
+/+ Unknown c.830A>G p.Y277C -
+/+ Unknown c.1114G>A p.V372M -
+/+ Unknown c.1165C>T p.R389X -
+/+ Unknown c.1166G>A p.R389Q -
+/+ Unknown c.1330G>A p.G444R -
+/+ Unknown c.1333C>T p.R445C -
+/+ Unknown c.1334G>A p.R445H -
+/+ Unknown c.1534C>T p.R512X -
+/+ Unknown c.1541C>T p.P514L -
+/+ Unknown c.1543T>C p.C515R -
+/+ Unknown c.1714G>A p.D572N -
+/+ Unknown c.1714G>C p.D572H -
+/+ Unknown c.1764G>A p.W588X -
+/+ Unknown c.1810C>T p.R604X -
+/+ Unknown c.1960A>G p.M654V -
+/+ Unknown c.2004T>A p.S668R -
+/+ Unknown c.2030T>C p.I677T -
+/+ Unknown c.2035G>A p.E679K -

5 entries in TMIE

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.92A>G p.E31G -
+/+ Unknown c.170G>A p.W57X -
+/+ Unknown c.241C>T p.R81C -
+/+ Unknown c.250C>T p.R84W -
+/+ Unknown c.274C>T p.R92W -

12 entries in TMPRSS3

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.268G>A p.A90T -
+/+ Unknown c.308A>G p.D103G -
+/+ Unknown c.325C>T p.R109W -
+/+ Unknown c.413C>A p.A138E -
+/+ Unknown c.581G>T p.C194F -
+/+ Unknown c.646C>T p.R216C -
+/+ Unknown c.647G>T p.R216L -
+/+ Unknown c.753G>C p.W251C -
+/+ Unknown c.916G>A p.A306T -
+/+ Unknown c.1192C>T p.Q398X -
+/+ Unknown c.1211C>T p.P404L -
+/+ Unknown c.1219T>C p.C407R -

24 entries in UNC13D

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.175G>A p.A59T -
+/+ Unknown c.247C>T p.R83X -
+/+ Unknown c.610A>G p.M204V -
+/+ Unknown c.640C>T p.R214X -
+/+ Unknown c.766C>T p.R256X -
+/+ Unknown c.817C>T p.R273X -
+/+ Unknown c.869C>T p.S290L -
+/+ Unknown c.1061G>T p.W354L -
+/+ Unknown c.1145G>A p.W382X -
+/+ Unknown c.1208T>C p.L403P -
+/+ Unknown c.1241G>T p.R414L -
+/+ Unknown c.1579C>T p.R527W -
+/+ Unknown c.1760G>A p.R587H -
+/+ Unknown c.2039G>C p.R680P -
+/+ Unknown c.2163G>A p.W721X -
+/+ Unknown c.2191G>A p.V731M -
+/+ Unknown c.2570T>G p.F857C -
+/+ Unknown c.2650C>T p.Q884X -
+/+ Unknown c.2672T>C p.L891P -
+/+ Unknown c.2782C>T p.R928C -
+/+ Unknown c.2783G>C p.R928P -
+/+ Unknown c.3131T>G p.L1044R -
+/+ Unknown c.3173T>C p.L1058P -
+/+ Unknown c.3193C>T p.R1065X -

7 entries in USH1C

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.91C>T p.R31X -
+/+ Unknown c.308G>A p.R103H -
+/+ Unknown c.463C>T p.R155X -
+/+ Unknown c.1292G>T p.G431V -
+/+ Unknown c.1823C>G p.P608R -
+/+ Unknown c.1859G>T p.R620L -
+/+ Unknown c.1906C>T p.R636C -

3 entries in USH1G

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.113G>A p.W38X -
+/+ Unknown c.143T>C p.L48P -
+/+ Unknown c.1373A>T p.D458V -

68 entries in USH2A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.100C>T p.R34X -
+/+ Unknown c.187C>T p.R63X -
+/+ Unknown c.233T>G p.F78C -
+/+ Unknown c.488G>A p.C163Y -
+/+ Unknown c.653T>A p.V218E -
+/+ Unknown c.688G>A p.V230M -
+/+ Unknown c.779T>G p.L260X -
+/+ Unknown c.802G>A p.G268R -
+/+ Unknown c.838C>T p.L280F -
+/+ Unknown c.850G>A p.E284K -
+/+ Unknown c.905G>T p.C302F -
+/+ Unknown c.907C>A p.R303S -
+/+ Unknown c.907C>T p.R303C -
+/+ Unknown c.920G>T p.S307I -
+/+ Unknown c.956G>A p.C319Y -
+/+ Unknown c.1000C>T p.R334W -
+/+ Unknown c.1001G>A p.R334Q -
+/+ Unknown c.1036A>C p.N346H -
+/+ Unknown c.1055C>T p.T352I -
+/+ Unknown c.1070A>C p.N357T -
+/+ Unknown c.1135C>T p.Q379X -
+/+ Unknown c.1172G>T p.S391I -
+/+ Unknown c.1227G>A p.W409X -
+/+ Unknown c.1256G>T p.C419F -
+/+ Unknown c.1390C>T p.R464C -
+/+ Unknown c.1434G>C p.E478D -
+/+ Unknown c.1518T>A p.Y506X -
+/+ Unknown c.1547G>T p.G516V -
+/+ Unknown c.1550G>C p.R517T -
+/+ Unknown c.1604G>C p.R535T -
+/+ Unknown c.1606T>C p.C536R -
+/+ Unknown c.1663C>G p.L555V -
+/+ Unknown c.1696C>T p.Q566X -
+/+ Unknown c.1724G>C p.C575S -
+/+ Unknown c.1829A>C p.H610P -
+/+ Unknown c.1859G>T p.C620F -
+/+ Unknown c.1876C>T p.R626X -
+/+ Unknown c.1966G>A p.D656N -
+/+ Unknown c.1985G>T p.C662F -
+/+ Unknown c.2023C>T p.Q675X -
+/+ Unknown c.2073C>A p.C691X -
+/+ Unknown c.2137G>C p.G713R -
+/+ Unknown c.2209C>T p.R737X -
+/+ Unknown c.2215T>C p.F739L -
+/+ Unknown c.2242C>T p.Q748X -
+/+ Unknown c.2276G>T p.C759F -
+/+ Unknown c.2282C>G p.P761R -
+/+ Unknown c.2304C>A p.C768X -
+/+ Unknown c.2522C>A p.S841Y -
+/+ Unknown c.2541C>A p.C847X -
+/+ Unknown c.2732C>A p.T911N -
+/+ Unknown c.2797C>T p.Q933X -
+/+ Unknown c.2983C>T p.Q995X -
+/+ Unknown c.3176C>T p.P1059L -
+/+ Unknown c.3368A>G p.Y1123C -
+/+ Unknown c.3635C>T p.P1212L -
+/+ Unknown c.3746C>T p.P1249L -
+/+ Unknown c.3883C>T p.R1295X -
+/+ Unknown c.3920C>G p.S1307X -
+/+ Unknown c.3932C>A p.S1311X -
+/+ Unknown c.4106C>T p.S1369L -
+/+ Unknown c.4174G>T p.G1392X -
+/+ Unknown c.4222C>T p.Q1408X -
+/+ Unknown c.4372G>T p.G1458X -
+/+ Unknown c.4381C>T p.Q1461X -
+/+ Unknown c.4405C>T p.Q1469X -
+/+ Unknown c.4409T>G p.L1470R -
+/+ Unknown c.4544C>T p.T1515M -

121 entries in WAS

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
+/+ Unknown - c.18G>A p.M6I
+/+ Unknown - c.35G>C p.G12A
+/+ Unknown - c.37C>T p.R13X
+/+ Unknown - c.40G>T p.G14X
+/+ Unknown - c.58C>T p.Q20X
+/+ Unknown - c.70T>C p.S24P
+/+ Unknown - c.71C>T p.S24F
+/+ Unknown - c.79C>T p.L27F
+/+ Unknown - c.91G>A p.E31K
+/+ Unknown - c.92A>G p.E31G
+/+ Unknown - c.93G>C p.E31D
+/+ Unknown - c.97C>T p.Q33X
+/+ Unknown - c.100C>T p.R34X
+/+ Unknown - c.104T>A p.L35H
+/+ Unknown - c.116T>C p.L39P
+/+ Unknown - c.119G>T p.G40V
+/+ Unknown - c.121C>G p.R41G
+/+ Unknown - c.121C>T p.R41X
+/+ Unknown - c.129C>G p.C43W
+/+ Unknown - c.134C>T p.T45M
+/+ Unknown - c.137T>C p.L46P
+/+ Unknown - c.140C>A p.A47D
+/+ Unknown - c.143C>T p.T48I
+/+ Unknown - c.156G>C p.Q52H
+/+ Unknown - c.162C>A p.Y54X
+/+ Unknown - c.167C>T p.A56V
+/+ Unknown - c.172C>G p.P58A
+/+ Unknown - c.173C>G p.P58R
+/+ Unknown - c.173C>T p.P58L
+/+ Unknown - c.190T>C p.W64R
+/+ Unknown - c.208G>T p.G70W
+/+ Unknown - c.217T>C p.C73R
+/+ Unknown - c.218G>A p.C73Y
+/+ Unknown - c.221T>C p.F74S
+/+ Unknown - c.223G>A p.V75M
+/+ Unknown - c.227A>C p.K76T
+/+ Unknown - c.229G>C p.D77H
+/+ Unknown - c.230A>G p.D77G
+/+ Unknown - c.238C>T p.Q80X
+/+ Unknown - c.244T>C p.S82P
+/+ Unknown - c.245C>T p.S82F
+/+ Unknown - c.248A>G p.Y83C
+/+ Unknown - c.250T>C p.F84L
+/+ Unknown - c.254T>C p.I85T
+/+ Unknown - c.256C>A p.R86S
+/+ Unknown - c.256C>G p.R86G
+/+ Unknown - c.256C>T p.R86C
+/+ Unknown - c.257G>A p.R86H
+/+ Unknown - c.257G>C p.R86P
+/+ Unknown - c.257G>T p.R86L
+/+ Unknown - c.264C>A p.Y88X
+/+ Unknown - c.266G>A p.G89D
+/+ Unknown - c.291G>A p.W97X
+/+ Unknown - c.291G>C p.W97C
+/+ Unknown - c.295C>T p.Q99X
+/+ Unknown - c.296A>G p.Q99R
+/+ Unknown - c.298G>T p.E100X
+/+ Unknown - c.300G>T p.E100D
+/+ Unknown - c.302T>C p.L101P
+/+ Unknown - c.302T>G p.L101R
+/+ Unknown - c.310C>T p.Q104X
+/+ Unknown - c.314T>C p.L105P
+/+ Unknown - c.319T>C p.Y107H
+/+ Unknown - c.320A>G p.Y107C
+/+ Unknown - c.331A>C p.T111P
+/+ Unknown - c.340T>A p.F114I
+/+ Unknown - c.342C>G p.F114L
+/+ Unknown - c.343C>T p.H115Y
+/+ Unknown - c.356G>A p.G119E
+/+ Unknown - c.366C>A p.C122X
+/+ Unknown - c.367C>A p.Q123K
+/+ Unknown - c.367C>T p.Q123X
+/+ Unknown - c.371C>A p.A124E
+/+ Unknown - c.373G>A p.G125R
+/+ Unknown - c.373G>C p.G125R
+/+ Unknown - c.377T>C p.L126P
+/+ Unknown - c.381C>G p.N127K
+/+ Unknown - c.382T>C p.F128L
+/+ Unknown - c.383T>C p.F128S
+/+ Unknown - c.391G>A p.E131K
+/+ Unknown - c.397G>A p.E133K
+/+ Unknown - c.397G>C p.E133Q
+/+ Unknown - c.399G>T p.E133D
+/+ Unknown - c.400G>A p.A134T
+/+ Unknown - c.401C>T p.A134V
+/+ Unknown - c.413G>C p.R138P
+/+ Unknown - c.424C>T p.Q142X
+/+ Unknown - c.472C>T p.Q158X
+/+ Unknown - c.553C>T p.Q185X
+/+ Unknown - c.559G>T p.G187C
+/+ Unknown - c.607C>T p.Q203X
+/+ Unknown - c.631C>T p.R211X
+/+ Unknown - c.683C>G p.S228X
+/+ Unknown - c.707C>G p.A236G
+/+ Unknown - c.756G>A p.W252X
+/+ Unknown - c.809T>C p.L270P
+/+ Unknown - c.814T>C p.S272P
+/+ Unknown - c.832G>T p.E278X
+/+ Unknown - c.853G>T p.E285X
+/+ Unknown - c.881T>C p.I294T
+/+ Unknown - c.889C>T p.Q297X
+/+ Unknown - c.916G>T p.E306X
+/+ Unknown - c.919A>G p.M307V
+/+ Unknown - c.961C>T p.R321X
+/+ Unknown - c.995T>C p.V332A
+/+ Unknown - c.1016C>A p.S339Y
+/+ Unknown - c.1081C>A p.P361T
+/+ Unknown - c.1090C>T p.R364X
+/+ Unknown - c.1117C>T p.P373S
+/+ Unknown - c.1318C>T p.Q440X
+/+ Unknown - c.1354G>T p.E452X
+/+ Unknown - c.1375C>T p.P459S
+/+ Unknown - c.1426A>G p.K476E
+/+ Unknown - c.1429A>G p.R477G
+/+ Unknown - c.1430G>A p.R477K
+/+ Unknown - c.1442T>A p.I481N
+/+ Unknown - c.1453G>A p.D485N
+/+ Unknown - c.1454A>G p.D485G
+/+ Unknown - c.1507T>A p.X503R
+/+ Unknown - c.1507T>C p.X503R
+/+ Unknown - c.1508G>C p.X503S

143 entries in WFS1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.173C>T p.A58V -
+/+ Unknown c.320G>A p.G107E -
+/+ Unknown c.328T>A p.Y110N -
+/+ Unknown c.376G>A p.A126T -
+/+ Unknown c.387G>A p.W129X -
+/+ Unknown c.397G>A p.A133T -
+/+ Unknown c.406C>T p.Q136X -
+/+ Unknown c.472G>A p.E158K -
+/+ Unknown c.482G>A p.R161Q -
+/+ Unknown c.505G>A p.E169K -
+/+ Unknown c.530G>C p.R177P -
+/+ Unknown c.577A>C p.K193Q -
+/+ Unknown c.580C>T p.Q194X -
+/+ Unknown c.631G>A p.D211N -
+/+ Unknown c.670C>T p.Q224X -
+/+ Unknown c.676C>T p.Q226X -
+/+ Unknown c.817G>T p.E273X -
+/+ Unknown c.873C>A p.Y291X -
+/+ Unknown c.873C>G p.Y291X -
+/+ Unknown c.874C>T p.P292S -
+/+ Unknown c.887T>G p.I296S -
+/+ Unknown c.906C>A p.Y302X -
+/+ Unknown c.935T>G p.M312R -
+/+ Unknown c.937C>T p.H313Y -
+/+ Unknown c.977C>T p.A326V -
+/+ Unknown c.1037C>T p.P346L -
+/+ Unknown c.1096C>T p.Q366X -
+/+ Unknown c.1112G>A p.W371X -
+/+ Unknown c.1113G>A p.W371X -
+/+ Unknown c.1145T>C p.L382P -
+/+ Unknown c.1181A>T p.E394V -
+/+ Unknown c.1185T>C p.V395V -
+/+ Unknown c.1277G>A p.C426Y -
+/+ Unknown c.1280T>G p.I427S -
+/+ Unknown c.1294C>G p.L432V -
+/+ Unknown c.1309G>C p.G437R -
+/+ Unknown c.1321G>A p.V441M -
+/+ Unknown c.1328G>T p.S443I -
+/+ Unknown c.1346C>T p.T449I -
+/+ Unknown c.1367G>A p.R456H -
+/+ Unknown c.1371G>T p.R457S -
+/+ Unknown c.1382C>G p.T461S -
+/+ Unknown c.1433G>A p.W478X -
+/+ Unknown c.1456C>T p.Q486X -
+/+ Unknown c.1495C>T p.L499F -
+/+ Unknown c.1511C>T p.P504L -
+/+ Unknown c.1514G>A p.C505Y -
+/+ Unknown c.1517T>G p.L506R -
+/+ Unknown c.1554G>A p.M518I -
+/+ Unknown c.1558C>T p.Q520X -
+/+ Unknown c.1582T>G p.Y528D -
+/+ Unknown c.1584C>G p.Y528X -
+/+ Unknown c.1597C>T p.P533S -
+/+ Unknown c.1602C>G p.Y534X -
+/+ Unknown c.1628T>G p.L543R -
+/+ Unknown c.1637T>A p.V546D -
+/+ Unknown c.1669C>T p.L557F -
+/+ Unknown c.1672C>T p.R558C -
+/+ Unknown c.1673G>A p.R558H -
+/+ Unknown c.1675G>A p.A559T -
+/+ Unknown c.1726G>A p.G576S -
+/+ Unknown c.1756G>A p.A586T -
+/+ Unknown c.1763G>A p.W588X -
+/+ Unknown c.1805C>T p.A602V -
+/+ Unknown c.1816G>C p.V606L -
+/+ Unknown c.1820C>G p.P607R -
+/+ Unknown c.1832A>G p.H611R -
+/+ Unknown c.1838G>A p.W613X -
+/+ Unknown c.1839G>A p.W613X -
+/+ Unknown c.1846G>T p.A616S -
+/+ Unknown c.1871T>C p.V624A -
+/+ Unknown c.1885C>T p.R629W -
+/+ Unknown c.1901A>C p.K634T -
+/+ Unknown c.1941C>A p.C647X -
+/+ Unknown c.1944G>A p.W648X -
+/+ Unknown c.1957C>T p.R653C -
+/+ Unknown c.1964A>G p.E655G -
+/+ Unknown c.1980C>G p.Y660X -
+/+ Unknown c.1991T>G p.L664R -
+/+ Unknown c.1997G>A p.W666X -
+/+ Unknown c.1999C>T p.Q667X -
+/+ Unknown c.2002C>T p.Q668X -
+/+ Unknown c.2005T>C p.Y669H -
+/+ Unknown c.2006A>G p.Y669C -
+/+ Unknown c.2007T>G p.Y669X -
+/+ Unknown c.2012C>T p.A671V -
+/+ Unknown c.2015T>C p.L672P -
+/+ Unknown c.2020G>A p.G674R -
+/+ Unknown c.2021G>A p.G674E -
+/+ Unknown c.2021G>T p.G674V -
+/+ Unknown c.2033G>T p.W678L -
+/+ Unknown c.2051C>T p.A684V -
+/+ Unknown c.2053C>T p.R685C -
+/+ Unknown c.2054G>C p.R685P -
+/+ Unknown c.2068T>C p.C690R -
+/+ Unknown c.2068T>G p.C690G -
+/+ Unknown c.2084G>T p.G695V -
+/+ Unknown c.2096C>T p.T699M -
+/+ Unknown c.2099G>A p.W700X -
+/+ Unknown c.2100G>T p.W700C -
+/+ Unknown c.2105G>A p.G702D -
+/+ Unknown c.2115G>C p.K705N -
+/+ Unknown c.2119G>A p.V707I -
+/+ Unknown c.2122C>T p.R708C -
+/+ Unknown c.2146G>A p.A716T -
+/+ Unknown c.2149G>A p.E717K -
+/+ Unknown c.2158A>G p.I720V -
+/+ Unknown c.2171C>T p.P724L -
+/+ Unknown c.2185G>A p.D729N -
+/+ Unknown c.2206G>A p.G736S -
+/+ Unknown c.2206G>C p.G736R -
+/+ Unknown c.2209G>A p.E737K -
+/+ Unknown c.2254G>T p.E752X -
+/+ Unknown c.2269C>A p.L757I -
+/+ Unknown c.2311G>C p.D771H -
+/+ Unknown c.2312A>G p.D771G -
+/+ Unknown c.2314C>T p.R772C -
+/+ Unknown c.2327A>T p.E776V -
+/+ Unknown c.2335G>A p.V779M -
+/+ Unknown c.2338G>C p.G780R -
+/+ Unknown c.2356G>A p.G786S -
+/+ Unknown c.2378G>C p.R793P -
+/+ Unknown c.2419A>C p.S807R -
+/+ Unknown c.2433A>G p.K811K -
+/+ Unknown c.2452C>T p.R818C -
+/+ Unknown c.2455C>T p.Q819X -
+/+ Unknown c.2486T>C p.L829P -
+/+ Unknown c.2492G>A p.G831D -
+/+ Unknown c.2507A>C p.K836T -
+/+ Unknown c.2508G>C p.K836N -
+/+ Unknown c.2513C>T p.P838L -
+/+ Unknown c.2524C>T p.L842F -
+/+ Unknown c.2530G>A p.A844T -
+/+ Unknown c.2565G>A p.S855S -
+/+ Unknown c.2576G>A p.R859Q -
+/+ Unknown c.2576G>C p.R859P -
+/+ Unknown c.2578C>G p.H860D -
+/+ Unknown c.2590G>A p.E864K -
+/+ Unknown c.2590G>T p.E864X -
+/+ Unknown c.2596G>A p.D866N -
+/+ Unknown c.2601G>A p.W867X -
+/+ Unknown c.2611G>A p.V871M -
+/+ Unknown c.2654C>T p.P885L -

6 entries in XIAP

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
+/+ Unknown c.310C>T p.Q104X -
+/+ Unknown c.352G>T p.E118X -
+/+ Unknown c.563G>A p.G188E -
+/+ Unknown c.997C>T p.Q333X -
+/+ Unknown c.1268C>A p.P423Q -
+/+ Unknown c.1445C>G p.P482R -

For research use. Husami et al. 2006-2010

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