LOVD - Variant listings for GAA

About this overview [Show]

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

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DNA change c.271G>A   (View in UCSC Genome Browser, Ensembl)
Protein p.D91N
Variant remarks Löscher WN J Neurol. 2018
Gutiérrez-Rivas Neuromuscul Disord. 2015
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