LOVD - Variant listings for UNC13D

About this overview [Show]

Patient data (#0000484)
Race -
Reference -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DNA change chr17:71337715C>T
Protein p.E981E
dbSNP ID rs35628234

43 entries in ABCB11

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown p.R1268Q rs72549394
?/? Unknown p.E1186K rs1521808
?/? Unknown p.R1153C rs72549395
?/? Unknown p.K1145K rs11568366
?/? Unknown p.R1090X rs72549396
?/? Unknown p.T1086T rs11568359
?/? Unknown p.R1057X rs72549397
?/? Unknown p.R1050C rs72549398
?/? Unknown p.A1028A rs497692
?/? Unknown p.G1004G rs41265143
?/? Unknown p.G982R rs72549399
?/? Unknown p.A926P rs72549400
?/? Unknown p.A804A rs11568373
?/? Unknown p.M677V rs11568364
?/? Unknown p.V597V rs11568371
?/? Unknown p.V597M rs72886795
?/? Unknown p.E592Q rs11568370
?/? Unknown p.N591S rs11568367
?/? Unknown p.R575X rs72549401
?/? Unknown p.Q558H rs11568369
?/? Unknown p.G557G rs11568368
?/? Unknown p.D482G rs72549402
?/? Unknown p.I468I rs34200464
?/? Unknown p.F427F rs11568360
?/? Unknown p.E395E rs57509552
?/? Unknown p.C336S rs72551305
?/? Unknown p.E297G rs11568372
?/? Unknown p.G238V rs72551306
?/? Unknown p.L232L rs11568358
?/? Unknown p.I206V rs11568357
?/? Unknown p.V195V rs11568365
?/? Unknown p.E186G rs72551307
?/? Unknown p.I134I rs11568377
?/? Unknown p.D58D rs11568362
?/? Unknown p.S56L rs11568361
?/? Unknown c.108T>C p.D36D rs3815675
?/? Unknown c.270T>C p.F90F rs4148777
?/? Unknown c.807T>C p.Y269Y rs2287616
?/? Unknown c.896G>A p.R299K rs2287617
?/? Unknown c.957A>G p.G319G rs7563233
?/? Unknown c.1331T>C p.V444A rs2287622
?/? Unknown c.*65delA - rs5836212
?/? Unknown c.*78G>A - rs3770571

45 entries in ABCB4

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.1037G>T p.S346I rs67876345
?/? Unknown c.1184A>G p.E395G rs72552777
?/? Unknown c.1314G>A p.T438T rs45624933
?/? Unknown c.147C>A p.S49S rs8187789
?/? Unknown c.1584G>C p.E528D rs8187797
?/? Unknown c.1621A>T p.I541F rs66904256
?/? Unknown c.1769G>A p.R590Q rs45575636
?/? Unknown c.1772T>A p.L591Q rs72552776
?/? Unknown c.1886A>G p.N629S rs77961715
?/? Unknown c.1906C>T p.Q636X rs72552775
?/? Unknown c.1952C>A p.T651N rs45476795
?/? Unknown c.1973G>A p.W658X rs72552774
?/? Unknown c.2021C>T p.S674L rs62486550
?/? Unknown c.2056G>C p.D686H rs78653500
?/? Unknown c.2132T>C p.F711S rs72552773
?/? Unknown c.217C>G p.L73V rs8187788
?/? Unknown c.2187A>C p.S729S rs76803195
?/? Unknown c.2325G>C p.T775T rs8187802
?/? Unknown c.2363G>A p.R788Q rs8187801
?/? Unknown c.2800G>A p.A934T rs61730509
?/? Unknown c.2933C>T p.S978F rs77217823
?/? Unknown c.2947G>A p.G983S rs56187107
?/? Unknown c.2952A>G p.A984A rs45574932
?/? Unknown c.3037A>C p.R1013R rs2230029
?/? Unknown c.3111T>C p.N1037N rs8187808
?/? Unknown c.3144C>T p.N1048N rs8187807
?/? Unknown c.3259G>A p.D1087N rs55690313
?/? Unknown c.3404A>C p.N1135T rs80220052
?/? Unknown c.3553A>G p.I1185V rs8187811
?/? Unknown c.412T>C p.W138R rs72552781
?/? Unknown c.430C>T p.R144X rs72552780
?/? Unknown c.523A>G p.T175A rs58238559
?/? Unknown c.696C>A p.A232A rs8187791
?/? Unknown c.712C>G p.L238V rs45596335
?/? Unknown c.787A>G p.I263V rs45547936
?/? Unknown c.902T>C p.M301T rs72552779
?/? Unknown c.959C>T p.S320F rs72552778
?/? Unknown c.175C>A p.L59M rs2302387
?/? Unknown c.240G>A p.E80E rs8187787
?/? Unknown c.459T>A p.F153L rs2230027
?/? Unknown c.504C>A p.N168K rs1202283
?/? Unknown c.711A>T p.I237I rs2109505
?/? Unknown c.1954A>C p.R652G rs2230028
?/? Unknown c.2559T>G p.G853G rs3761810
?/? Unknown c.3298G>A p.A1100T rs31655

8 entries in ACADM

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
Variant remarks Descending
Ascending
dbSNP ID Descending
Ascending
-?/? Unknown p.A226A - rs2229249
-?/? Unknown c.50G>A p.R17H - rs17848070
-?/? Unknown c.184C>A p.P62T - rs11549026
-?/? Unknown c.269A>G p.H90R - rs11549025
-?/? Unknown c.351A>C p.T117T - rs74090726
-?/? Unknown c.896C>T p.A299V - rs11549023
-?/? Unknown c.900C>T p.T300T - rs17097429
-?/? Unknown c.1161A>G p.V387V - rs1061337

16 entries in ACADVL

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
-?/? Unknown c.37C>T p.Q13X rs63750670
-?/? Unknown c.49C>T p.L17F rs2230179
-?/? Unknown c.68G>A p.R23Q rs34153370
-?/? Unknown c.98C>A p.P33H rs11548310
-?/? Unknown c.128G>A p.G43D rs2230178
-?/? Unknown c.579C>T p.G171G rs11548306
-?/? Unknown c.698T>A p.V211E rs35245783
-?/? Unknown c.720C>T p.Y218Y rs11548307
-?/? Unknown c.799G>A p.V245I rs11548305
-?/? Unknown c.1038G>A p.A324A rs8064573
-?/? Unknown c.1075G>T p.A337S rs1051701
-?/? Unknown c.1284G>A p.K406K rs35501596
-?/? Unknown c.1322G>A p.G419D rs2309689
-?/? Unknown c.1600G>A p.E512K rs2230180
-?/? Unknown c.1868C>T p.S601F rs13383
-?/? Unknown c.1965C>T p.F633F rs9674

42 entries in ATP8B1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.*11C>T - rs34255016
?/? Unknown c.1046T>C p.I349T rs56214207
?/? Unknown c.1101C>A p.G367G rs35969033
?/? Unknown c.1177A>G p.I393V rs34315917
?/? Unknown c.1286A>C p.E429A rs34018205
?/? Unknown c.1310G>A p.R437K rs78450955
?/? Unknown c.1435C>T p.H479Y rs75460259
?/? Unknown c.1711G>A p.A571T rs35140429
?/? Unknown c.1739G>A p.S580N rs33963153
?/? Unknown c.1754A>G p.E585G rs35238397
?/? Unknown c.189A>G p.T63T rs35377845
?/? Unknown c.2021T>C p.M674T rs35470719
?/? Unknown c.208G>A p.D70N rs34719006
?/? Unknown c.2200G>A p.D734N rs28397944
?/? Unknown c.2332G>A p.V778I rs34597611
?/? Unknown c.2358G>A p.V786V rs33965008
?/? Unknown c.2364A>C p.E788D rs77317429
?/? Unknown c.2442G>T p.K814N rs34018300
?/? Unknown c.246A>G p.T82T rs34623939
?/? Unknown c.2553A>G p.K851K rs34105567
?/? Unknown c.2555A>C p.N852T rs34681681
?/? Unknown c.2598_2599insC - rs71990882
?/? Unknown c.2599_2600insC - rs35455826
?/? Unknown c.2664G>T p.T888T rs35757087
?/? Unknown c.2789G>A p.R930Q rs35623014
?/? Unknown c.3270G>T p.L1090F rs75586146
?/? Unknown c.3284G>T p.W1095L rs79391613
?/? Unknown c.3410C>A p.S1137X rs74414989
?/? Unknown c.3699G>A p.P1233P rs35953143
?/? Unknown c.607A>G p.K203E rs56355310
?/? Unknown c.69C>A p.P23P rs80095492
?/? Unknown c.771T>C p.A257A rs34221682
?/? Unknown c.88_89insC - rs34639122
?/? Unknown c.234C>G p.H78Q rs3745079
?/? Unknown c.696T>C p.D232D rs319438
?/? Unknown c.811A>C p.R271R rs319443
?/? Unknown c.1062T>G p.G354G rs7232032
?/? Unknown c.1151G>A p.R384H rs2271260
?/? Unknown c.1729A>G p.I577V rs3745078
?/? Unknown c.2855G>A p.R952Q rs12968116
?/? Unknown c.3454A>G p.T1152A rs222581
?/? Unknown c.3744C>A p.T1248T rs2271771

9 entries in CASP10

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
-/-? Unknown p.S239C rs41473647
-/-? Unknown p.L285F rs17860403
-/-? Unknown p.V410I rs13010627
-/-? Unknown p.A414V rs28936699
-/-? Unknown p.A432A rs41331850
-/-? Unknown p.P444S rs41513147
-/-? Unknown p.Y446C rs17860405
-/-? Unknown c.157G>A p.E53K rs1804650
-/-? Unknown c.177A>G p.S59S rs3900115

2 entries in CD40LG

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.148T>C p.L50L rs1126535
?/? Unknown c.768T>C p.F256F rs3092922

90 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.173A>G p.Q58R rs61732490
?/? Unknown c.366T>C p.V122V rs3802720
?/? Unknown c.1035C>T p.A345A rs45581037
?/? Unknown c.1038G>A p.P346P rs74608315
?/? Unknown c.1053C>T p.S351S rs7903475
?/? Unknown c.1270G>A p.V424M rs2305207
?/? Unknown c.1423G>A p.V475M rs62622410
?/? Unknown c.1449+76C>A p.P509T in NM_052836.2 rs41281304
?/? Unknown c.1449+130T>C - rs2305209
?/? Unknown c.1469G>C p.G490A rs1227049
?/? Unknown c.1487G>A p.S496N rs10999947
?/? Unknown c.1536G>A p.T512T rs56128491
?/? Unknown c.1649A>G p.N550S rs79464349
?/? Unknown c.2163C>T p.I721I rs80086999
?/? Unknown c.2250_2251insG - rs34432586
?/? Unknown c.2251G>A p.G751R rs41281306
?/? Unknown c.2316T>C p.N772N rs3752752
?/? Unknown c.2388T>C p.D796D rs3752751
?/? Unknown c.2424G>A p.G808G rs76601590
?/? Unknown c.2502C>T p.R834R rs55918133
?/? Unknown c.2556G>A p.L852L rs61852054
?/? Unknown c.2596delC p.P866fx rs34768093
?/? Unknown c.2865C>T p.R955R rs79636933
?/? Unknown c.2958G>A p.L986L rs74702249
?/? Unknown c.2970C>T p.D990D rs56216952
?/? Unknown c.3009T>C p.S1003S rs10823829
?/? Unknown c.3010G>A p.V1004M rs79705488
?/? Unknown c.3206T>G p.I1069S rs74390113
?/? Unknown c.3225_3226insG - rs35865328
?/? Unknown c.3248_3249insG - rs34236496
?/? Unknown c.3249G>A - rs79805606
?/? Unknown c.3293A>G p.N1098S rs41281310
?/? Unknown c.3295_3296insG - rs34242194
?/? Unknown c.3364T>G p.L1122V rs77821631
?/? Unknown c.3574G>A p.V1192I rs80028391
?/? Unknown c.3625A>G p.T1209A rs41281314
?/? Unknown c.3664G>A p.A1222T rs41281316
?/? Unknown c.3758_3759insG - rs33998064
?/? Unknown c.3764A>G p.K1255R rs74868044
?/? Unknown c.3801C>T p.T1267T rs56107171
?/? Unknown c.4045C>T p.R1349C rs41281318
?/? Unknown c.4051A>G p.N1351D rs1227065
?/? Unknown c.4299T>A p.P1433P rs12218559
?/? Unknown c.4310G>A p.R1437Q rs56181447
?/? Unknown c.4341T>C p.D1447D rs12218564
?/? Unknown c.4509C>T p.G1503G rs10999978
?/? Unknown c.4723G>A p.A1575T rs1227051
?/? Unknown c.4846-16805A>C - rs3747869
?/? Unknown c.4846-16066C>T - rs3747867
?/? Unknown c.4846-16020_4846-16019insC - rs35478708
?/? Unknown c.4846-15872_4846-15871insA - rs35009874
?/? Unknown c.4846-15859G>A - rs3747866
?/? Unknown c.4846-4260A>G - rs3747862
?/? Unknown c.4858G>A p.V1620M rs41281330
?/? Unknown c.5023G>A p.V1675I rs17712523
?/? Unknown c.5026G>A p.A1676T rs56043301
?/? Unknown c.5100C>T p.Y1700Y rs10762480
?/? Unknown c.5161T>C p.S1721P rs78119792
?/? Unknown c.5165A>C p.H1722P rs78415951
?/? Unknown c.5411G>A p.R1804Q rs3802711
?/? Unknown c.5418C>G p.D1806E rs74145660
?/? Unknown c.5996C>G p.T1999S rs11592462
?/? Unknown c.6130G>A p.E2044K rs10466026
?/? Unknown c.6249G>A p.P2083P rs55964031
?/? Unknown c.6375C>G p.I2125M rs16929354
?/? Unknown c.6492C>T p.I2164I rs41281332
?/? Unknown c.6687C>T p.D2229D rs76463072
?/? Unknown c.6722_6723insG - rs35428767
?/? Unknown c.6847G>A p.V2283I rs41281334
?/? Unknown c.6852G>C p.L2284L rs56013867
?/? Unknown c.7073G>A p.R2358Q rs4747194
?/? Unknown c.7126G>A p.D2376N rs9663920
?/? Unknown c.7139C>T p.P2380L rs4747195
?/? Unknown c.7443_7444insG - rs34911784
?/? Unknown c.7468G>A p.E2490K rs41281336
?/? Unknown c.7572G>A p.A2524A rs10823849
?/? Unknown c.7762G>C p.E2588Q rs41281338
?/? Unknown c.8401T>G p.F2801V rs3802707
?/? Unknown c.8744G>A p.R2915H rs58875306
?/? Unknown c.8859C>T p.D2953D rs11000008
?/? Unknown c.8895C>T p.P2965P rs11000009
?/? Unknown c.8907C>T p.R2969R rs11000010
?/? Unknown c.9312C>G p.G3104G rs74317949
?/? Unknown c.9373T>C p.F3125L rs45583140
?/? Unknown c.9399G>A p.L3133L rs59687895
?/? Unknown c.9873G>A p.T3291T rs2290021
?/? Unknown c.9903C>T p.P3301P rs55717455
?/? Unknown c.9921delC p.G3307fx rs34635910
?/? Unknown c.9978C>T p.N3326N rs73277900

18 entries in DFNB31

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr9:116208646 p.R682R rs35258467
?/? Unknown chr9:116208854 p.M613T rs942519
?/? Unknown chr9:116210062 p.P562A rs12339210
?/? Unknown chr9:116225526 p.A505A rs34252199
?/? Unknown chr9:116226498 p.G451G rs4979387
?/? Unknown chr9:116226520 p.Y444C rs45530335
?/? Unknown chr9:116226524 p.A443S rs11539662
?/? Unknown chr9:116226533 p.A440T rs4978584
?/? Unknown chr9:116226583 p.R423P rs35003670
?/? Unknown chr9:116228343 p.R379W rs56059137
?/? Unknown chr9:116228387 p.R364H rs10817610
?/? Unknown chr9:116228437 p.K347K rs62559518
?/? Unknown chr9:116268489 p.N281S rs56113550
?/? Unknown chr9:116306494 p.E137Q rs41297175
?/? Unknown chr9:116306609 p.I98I rs41297173
?/? Unknown chr9:116306674 p.T77S rs56204273
?/? Unknown chr9:116306786 p.V39V rs2297815
?/? Unknown chr9:116306870 p.S11R rs45527543

10 entries in ELANE

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
Variant remarks Descending
Ascending
?/? Unknown chr19:803907C>T p.G33G rs17216628 -
?/? Unknown chr19:804019C>T p.C71R rs28931611 -
?/? Unknown chr19:804338A>G p.V101M rs28929494 -
?/? Unknown chr19:806587C>T p.N130N rs17223045 -
?/? Unknown chr19:806613C>T p.P139L rs28929493 -
?/? Unknown chr19:806649A>G p.C151Y rs57246956 -
?/? Unknown chr19:806966A>T p.S202? rs17216649 -
?/? Unknown chr19:807015A>G p.V219I rs17216656 -
?/? Unknown chr19:807130C>T p.P257L rs17216663 -
?/? Unknown chr19:807145C>T p.P262L rs17216670 -

14 entries in FAS

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.103T>C p.L35L rs9333296
?/? Unknown c.141G>A p.Q47Q rs3218621
?/? Unknown c.369G>A p.Q123Q rs28362318
?/? Unknown c.550A>G p.I184V rs28362322
?/? Unknown c.580G>A p.E194K rs56006128
?/? Unknown c.779A>T p.D260V rs28929498
?/? Unknown c.97A>G p.K33GluE rs55766344
?/? Unknown c.46G>A p.A16T rs3218619
?/? Unknown c.183G>A p.K61K rs3218613
?/? Unknown c.222A>G p.T74T rs2229521
?/? Unknown c.365C>T p.T122I rs3218614
?/? Unknown c.641C>A p.T214N rs3218617
?/? Unknown c.642C>T p.T214T rs2234978
?/? Unknown c.914C>T p.T305I rs3218611

7 entries in FOXP3

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.1189C>T p.R397W rs28935477
?/? Unknown c.131C>G p.T44S rs55711326
?/? Unknown c.155G>T p.G52V rs17847095
?/? Unknown c.363C>T p.H121H rs56409830
?/? Unknown c.543C>T p.S181S rs2232367
?/? Unknown c.659C>T p.A220V rs2232369
?/? Unknown c.874G>A p.V292I rs74162067

26 entries in GAA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
Variant remarks Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.1265G>A p.R422Q maped to NM_000152.3 rs2229224
?/? Unknown c.1352C>G p.P451R maped to NM_000152.3 {DbSNP7215458:rs7215458}
?/? Unknown c.257C>G p.P86R maped to NM_000152.3 rs2229222
?/? Unknown c.2780C>T p.T927I maped to NM_000152.3 {DbSNP1800315:rs1800315}
?/? Unknown c.2808C>T p.D936D maped to NM_000152.3 {DbSNP1800316:rs1800316}
?/? Unknown c.447G>A p.T149T maped to NM_000152.3 rs2289536
?/? Unknown c.67A>G p.T23A maped to NM_000152.3 rs2289537
?/? Unknown c.705G>A p.T235T maped to NM_000152.3 rs2304846
?/? Unknown c.271G>A p.D91N maped to NM_000152.3 {DbSNP1800299:rs1800299}
?/? Unknown c.324T>C p.C108C maped to NM_000152.3 {DbSNP1800300:rs1800300}
?/? Unknown c.596A>G p.H199R maped to NM_000152.3 {DbSNP1042393:rs1042393}
?/? Unknown c.642C>T p.S214S maped to NM_000152.3 {DbSNP1800301:rs1800301}
?/? Unknown c.668G>A p.R223H maped to NM_000152.3 {DbSNP1042395:rs1042395}
?/? Unknown c.921A>T p.A307A maped to NM_000152.3 {DbSNP1800303:rs1800303}
?/? Unknown c.1203G>A p.Q401Q maped to NM_000152.3 {DbSNP1800304:rs1800304}
?/? Unknown c.1374C>T p.Y458Y maped to NM_000152.3 {DbSNP1800305:rs1800305}
?/? Unknown c.1581G>A p.R527R maped to NM_000152.3 {DbSNP1042396:rs1042396}
?/? Unknown c.1726G>A p.G576S maped to NM_000152.3 {DbSNP1800307:rs1800307}
?/? Unknown c.1917G>A p.V639V maped to NM_000152.3 {DbSNP1800308:rs1800308}
?/? Unknown c.2065G>A p.E689K maped to NM_000152.3 {DbSNP1800309:rs1800309}
?/? Unknown c.2133A>G p.T711T maped to NM_000152.3 {DbSNP1800310:rs1800310}
?/? Unknown c.2154C>T p.V718V maped to NM_000152.3 {DbSNP1800311:rs1800311}
?/? Unknown c.2238G>C p.W746C maped to NM_000152.3 {DbSNP1800312:rs1800312}
?/? Unknown c.2338G>A p.V780I maped to NM_000152.3 {DbSNP1126690:rs1126690}
?/? Unknown c.2446G>A p.V816I maped to NM_000152.3 {DbSNP1800314:rs1800314}
?/? Unknown c.2553G>A p.G851G maped to NM_000152.3 {DbSNP1042397:rs1042397}

23 entries in GBA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.1223C>T p.T408M rs2230289
?/? Unknown c.1224G>A p.T408T rs1141826
?/? Unknown c.279G>A p.G93G rs1141816
?/? Unknown c.295C>T p.H99Y rs1141818
?/? Unknown c.296A>G p.H99R rs1141820
?/? Unknown c.300G>C p.T100T rs1141821
?/? Unknown c.44T>C p.L15S rs1141802
?/? Unknown c.46A>G p.S16G rs1141804
?/? Unknown c.81A>T p.G27G rs1059731
?/? Unknown c.237T>C p.Y79Y rs1141807
?/? Unknown c.238G>A p.E80K rs1141808
?/? Unknown c.243T>C p.S81S rs1141810
?/? Unknown c.245C>G p.T82R rs1141811
?/? Unknown c.247C>A p.R83S rs1141812
?/? Unknown c.259C>T p.R87W rs1141814
?/? Unknown c.275T>C p.M92T rs1141815
?/? Unknown c.681T>G p.N227K rs381418
?/? Unknown c.689T>A p.V230E rs381427
?/? Unknown c.703T>C p.S235P rs1064644
?/? Unknown c.1026A>G p.K342K rs1064646
?/? Unknown c.1038C>T p.G346G rs1064647
?/? Unknown c.1103G>A p.R368H rs1064648
?/? Unknown c.1497G>C p.V499V rs1135675

11 entries in GJB2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr13:19661186A>G p.D179N rs28931595
?/? Unknown chr13:19661243C>T p.G160S rs34988750
?/? Unknown chr13:19661245A>T p.D159V rs28931592
?/? Unknown chr13:19661380C>T p.E114G rs2274083
?/? Unknown chr13:19661573G>T p.D50Y rs28931594
?/? Unknown chr13:19661642C>T p.V27I rs2274084
?/? Unknown chr13:19661671C>T p.S17F rs28929485
?/? Unknown c.101T>C p.M34T rs35887622
?/? Unknown c.109G>A p.V37I rs72474224
?/? Unknown c.134G>A p.G45E rs72561723
?/? Unknown c.224G>A p.R75Q rs28931593

5 entries in GJB6

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.263C>T p.A88V rs28937872
?/? Unknown c.476A>G p.N159S rs35277762
?/? Unknown c.489G>A p.L163L rs35002004
?/? Unknown c.153C>T p.F51F rs78235745
?/? Unknown c.519_520insC p.P173P rs34298814

17 entries in GLA

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chrX:100540030C>G p.G328A rs28935492
?/? Unknown chrX:100540034A>C p.Q327K rs28935491
?/? Unknown chrX:100540076G>T p.D313Y rs28935490
?/? Unknown chrX:100540123C>T p.S297F rs28935489
?/? Unknown chrX:100540178C>G p.Q279E rs28935485
?/? Unknown chrX:100540198A>G p.N272S rs28935495
?/? Unknown chrX:100540207C>T p.V269A rs28935488
?/? Unknown chrX:100540433A>T p.D266V rs28935487
?/? Unknown chrX:100540439A>T p.D264V rs28935486
?/? Unknown chrX:100540550A>G p.R227Q rs28935198
?/? Unknown chrX:100540586A>G p.N215S rs28935197
?/? Unknown chrX:100542343G>T p.C202W rs28936082
?/? Unknown chrX:100543339C>T p.W162R rs28935196
?/? Unknown chrX:100543357A>G p.A156T rs28935195
?/? Unknown chrX:100543387C>T p.P146S rs28935194
?/? Unknown chrX:100545474A>C p.I117S rs12392549
?/? Unknown chrX:100545628C>G p.E66Q rs28935191

11 entries in HAX1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.108A>G p.E36E rs11556342
?/? Unknown c.126C>T p.G42G rs11556346
?/? Unknown c.144C>T p.N48N rs11556345
?/? Unknown c.145C>T p.P49S rs11556344
?/? Unknown c.159T>C p.S53S rs13796
?/? Unknown c.165G>A p.Q55Q rs11556343
?/? Unknown c.192C>T p.G64G rs11556340
?/? Unknown c.336A>G p.S112S rs17851424
?/? Unknown c.451A>G p.S151G rs17851425
?/? Unknown c.832T>C p.S278P rs1804715
?/? Unknown c.*30C>T - rs16994476

3 entries in IL2RG

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chrX:70245909G>T p.K217N rs52802233
?/? Unknown chrX:70247208A>G p.E109K rs17875899
?/? Unknown chrX:70247611A>T p.T44S rs7885041

22 entries in JAG1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr20:10568153A>G p.I1217T rs7353635
?/? Unknown chr20:10568275C>T p.Y1176Y rs1051421
?/? Unknown chr20:10568386C>T p.Y1139Y rs1051419
?/? Unknown chr20:10570258C>T p.D922D rs2229895
?/? Unknown chr20:10570501C>G p.P871R rs35761929
?/? Unknown chr20:10570518C>G p.T865T rs1801142
?/? Unknown chr20:10572502A>G p.S794S rs56225585
?/? Unknown chr20:10573538C>T p.G773S rs6032913
?/? Unknown chr20:10573542C>T p.K771K rs6040051
?/? Unknown chr20:10573804A>C p.T738T rs1801140
?/? Unknown chr20:10576630C>G p.H566Q rs6077862
?/? Unknown chr20:10576641A>G p.L563L rs6040052
?/? Unknown chr20:10576693G>T p.S545R rs730152
?/? Unknown chr20:10576750C>T p.I526I rs1801139
?/? Unknown chr20:10580861A>G p.N308N rs45575136
?/? Unknown chr20:10581181A>G p.G274D rs28939668
?/? Unknown chr20:10581237C>T p.Y255Y rs1131695
?/? Unknown chr20:10585056A>C p.G249C rs6077865
?/? Unknown chr20:10585057C>T p.P248P rs10485741
?/? Unknown chr20:10587222C>T p.C196C rs1801138
?/? Unknown chr20:10592614C>T p.V146I rs6040067
?/? Unknown chr20:10601469A>G p.G89G rs1051415

9 entries in KCNE1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr21:34743485 p.C106X rs17853625
?/? Unknown chr21:34743550 p.D85N rs1805128
?/? Unknown chr21:34743641 p.F54F rs17173508
?/? Unknown chr21:34743648 p.G52A rs17173509
?/? Unknown chr21:34743691 p.S38G rs1805127
?/? Unknown chr21:34743691 p.S38G rs17846179
?/? Unknown chr21:34743708 p.R32H rs17857111
?/? Unknown chr21:34743719 p.S28S rs17173510
?/? Unknown chr21:34743783 p.T7I rs28933384

38 entries in KCNQ1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr11:2422937A>G p.E11E rs2522014
?/? Unknown chr11:2423000A>G p.K32K rs2522015
?/? Unknown chr11:2423003A>G p.K33K rs2522016
?/? Unknown chr11:2423021A>G p.E39E rs2522017
?/? Unknown chr11:2423095A>C p.P64H rs2522018
?/? Unknown chr11:2423098C>T p.A65V rs2522019
?/? Unknown chr11:2423132C>T p.A76A rs2522020
?/? Unknown chr11:2423183A>C p.I93I rs2522021
?/? Unknown chr11:2423213A>C p.R103R rs2522022
?/? Unknown chr11:2423262A>C p.W120G rs8178998
?/? Unknown chr11:2505782C>T p.I145I rs1800170
?/? Unknown chr11:2505783C>T p.E146K rs8179000
?/? Unknown chr11:2548458C>G p.G168R rs179489
?/? Unknown chr11:2549169A>G p.V215M rs17215479
?/? Unknown chr11:2549178A>G p.K218E rs36210419
?/? Unknown chr11:2549855C>T p.H240H rs28730754
?/? Unknown chr11:2550760A>G p.G297S rs34320941
?/? Unknown chr11:2561341C>T p.A341V rs12720459
?/? Unknown chr11:2561351A>G p.A344A rs1800171
?/? Unknown chr11:2563070A>G p.K362R rs12720458
?/? Unknown chr11:2563095A>G p.A370A rs1805118
?/? Unknown chr11:2565426G>T p.K393N rs12720457
?/? Unknown chr11:2565469C>G p.P408A rs28730756
?/? Unknown chr11:2566591C>G p.H442D rs72549409
?/? Unknown chr11:2566610C>G p.P448R rs12720449
?/? Unknown chr11:2566611C>G p.P448P rs8179001
?/? Unknown chr11:2639816G>T p.R354S rs4151647
?/? Unknown chr11:2639828C>T p.F358F rs17215465
?/? Unknown chr11:2746687C>T p.R391X rs17215500
?/? Unknown chr11:2753813A>G p.S419S rs1057128
?/? Unknown chr11:2753814A>G p.Q420X rs4151646
?/? Unknown chr11:2755787C>G p.S453C rs8179002
?/? Unknown chr11:2755796C>T p.R456C rs17221854
?/? Unknown chr11:2825577C>T p.T473M rs34516117
?/? Unknown chr11:2825704C>T p.C515C rs12720454
?/? Unknown chr11:2825705A>G p.G516S rs1800172
?/? Unknown chr11:2825720A>G p.V521I rs34150427
?/? Unknown chr11:2825764C>T p.Y535Y rs11601907

188 entries in MECP2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown p.P127L rs61748382
?/? Unknown p.I125I rs61755764
?/? Unknown p.Q16X rs61754424
?/? Unknown p.K12N rs61754422
?/? Unknown p.E10Q rs61754421
?/? Unknown c.1030C>T p.R344W rs61752361
?/? Unknown c.1035A>G p.K345K rs61752362
?/? Unknown c.1038C>G p.S346R rs61752365
?/? Unknown c.1061G>A p.R354H rs61748387
?/? Unknown c.1071C>T p.S357S rs61750236
?/? Unknown c.1075T>C p.S359P rs61752371
?/? Unknown c.1079C>A p.S360X rs61752372
?/? Unknown c.1081C>G p.P361A rs61752373
?/? Unknown c.1087A>T p.K363X rs61752375
?/? Unknown c.1104C>T p.H368H rs61752382
?/? Unknown c.1126C>T p.P376S rs61752387
?/? Unknown c.1127C>G p.P376R rs61752976
?/? Unknown c.1137C>T p.P379P rs61752980
?/? Unknown c.1141C>G p.P381A rs61752981
?/? Unknown c.1156C>T p.L386L rs1042873
?/? Unknown c.1160C>T p.P387L rs63390262
?/? Unknown c.1161C>T p.P387P rs61750246
?/? Unknown c.1162C>T p.P388S rs61753000
?/? Unknown c.1163C>T p.P388L rs61753006
?/? Unknown c.1176G>A p.E392E rs61753009
?/? Unknown c.1180G>A p.E394K rs63094662
?/? Unknown c.1189G>A p.E397K rs56268439
?/? Unknown c.1189G>C p.E397Q rs56268439
?/? Unknown c.1196C>T p.P399L rs62915962
?/? Unknown c.1197C>T p.P399P rs61753012
?/? Unknown c.1202G>A p.S401N rs62707562
?/? Unknown c.1205C>T p.P402L rs61753014
?/? Unknown c.1206C>T p.P402P rs63586860
?/? Unknown c.1214C>T p.P405L rs61753016
?/? Unknown c.1215C>T p.P405P rs61753964
?/? Unknown c.1216C>T p.Q406X rs61753965
?/? Unknown c.1233C>T p.S411S rs3027928
?/? Unknown c.1234G>A p.V412I rs61753966
?/? Unknown c.1239C>T p.C413C rs61753967
?/? Unknown c.1250A>T p.K417M rs61753968
?/? Unknown c.1266C>T p.G422G rs61753970
?/? Unknown c.1282G>A p.G428S rs61753971
?/? Unknown c.1315G>A p.A439T rs61753973
?/? Unknown c.1324A>G p.T442A rs61753974
?/? Unknown c.1326C>T p.T442T rs61751363
?/? Unknown c.1330G>A p.A444T rs61753975
?/? Unknown c.1335G>A p.T445T rs3027927
?/? Unknown c.1340C>T p.A447V rs61753978
?/? Unknown c.1357C>T p.R453X rs61753979
?/? Unknown c.1358G>A p.R453Q rs61753980
?/? Unknown c.146C>A p.S49X rs61754432
?/? Unknown c.155A>G p.H52R rs61754433
?/? Unknown c.168C>T p.P56P rs61754435
?/? Unknown c.194C>G p.S65X rs61754437
?/? Unknown c.210C>T p.S70S rs61754439
?/? Unknown c.215C>T p.P72L rs61754440
?/? Unknown c.225G>A p.P75P rs61754442
?/? Unknown c.245A>G p.K82R rs61754444
?/? Unknown c.257C>G p.S86C rs61754445
?/? Unknown c.277C>T p.P93S rs61754447
?/? Unknown c.289G>T p.D97Y rs61754448
?/? Unknown c.291C>A p.D97E rs61754449
?/? Unknown c.297C>G p.T99T rs61754450
?/? Unknown c.298C>G p.L100V rs28935168
?/? Unknown c.299T>G p.L100R rs61754451
?/? Unknown c.301C>T p.P101S rs61754452
?/? Unknown c.302C>G p.P101R rs61754453
?/? Unknown c.311G>A p.W104X rs61754455
?/? Unknown c.316C>T p.R106W rs28934907
?/? Unknown c.317G>A p.R106Q rs61754457
?/? Unknown c.323T>A p.L108H rs61754458
?/? Unknown c.331A>G p.R111G rs61754459
?/? Unknown c.341G>C p.G114A rs61755760
?/? Unknown c.362A>G p.D121G rs61755762
?/? Unknown c.372G>C p.L124F rs61755763
?/? Unknown c.383A>C p.Q128P rs61748383
?/? Unknown c.386G>T p.G129V rs61748384
?/? Unknown c.393C>G p.A131A rs61748385
?/? Unknown c.397C>G p.R133C rs28934904
?/? Unknown c.398G>A p.R133H rs61748389
?/? Unknown c.401C>G p.S134C rs61748390
?/? Unknown c.403A>G p.K135E rs61748391
?/? Unknown c.410A>G p.E137G rs61748392
?/? Unknown c.419C>T p.A140V rs28934908
?/? Unknown c.422A>G p.Y141C rs61748395
?/? Unknown c.423C>G p.Y141X rs61748396
?/? Unknown c.426C>T p.F142F rs61748397
?/? Unknown c.430A>T p.K144X rs61748399
?/? Unknown c.438C>T p.G146G rs61748386
?/? Unknown c.452A>G p.D151G rs61748403
?/? Unknown c.455C>G p.P152R rs61748404
?/? Unknown c.463T>A p.F155I rs61748406
?/? Unknown c.464T>C p.F155S rs28934905
?/? Unknown c.467A>G p.D156G rs61748407
?/? Unknown c.468C>G p.D156E rs61748408
?/? Unknown c.469T>A p.F157I rs61748410
?/? Unknown c.472A>G p.T158A rs61748411
?/? Unknown c.473C>T p.T158M rs28934906
?/? Unknown c.474G>A p.T158T rs61748413
?/? Unknown c.479C>G p.T160S rs61748414
?/? Unknown c.481G>T p.G161W rs61748416
?/? Unknown c.482G>T p.G161V rs61748417
?/? Unknown c.499C>T p.R167W rs61748420
?/? Unknown c.502C>T p.R168X rs61748421
?/? Unknown c.508C>T p.Q170X rs61748425
?/? Unknown c.514C>T p.P172S rs61748426
?/? Unknown c.517C>G p.P173A rs61748427
?/? Unknown c.523A>T p.K175X rs61748428
?/? Unknown c.527C>G p.P176R rs61749701
?/? Unknown c.528C>G p.P176P rs61754420
?/? Unknown c.529A>T p.K177X rs61749702
?/? Unknown c.542C>T p.A181V rs61749705
?/? Unknown c.547G>C p.G183R rs61749706
?/? Unknown c.55C>T p.Q19X rs61754425
?/? Unknown c.573C>T p.P191P rs61749710
?/? Unknown c.582C>T p.S194S rs61749711
?/? Unknown c.585C>T p.G195G rs61749712
?/? Unknown c.587C>G p.T196S rs61749713
?/? Unknown c.590C>T p.T197M rs61749714
?/? Unknown c.591G>A p.T197T rs61749716
?/? Unknown c.592A>T p.R198X rs61749717
?/? Unknown c.598A>T p.K200X rs61749718
?/? Unknown c.602C>T p.A201V rs61748381
?/? Unknown c.608C>T p.T203M rs61749720
?/? Unknown c.609G>A p.T203T rs61749722
?/? Unknown c.611C>G p.S204X rs61749724
?/? Unknown c.612A>G p.S204S rs61749725
?/? Unknown c.613G>T p.E205X rs61749726
?/? Unknown c.617G>C p.G206A rs63485860
?/? Unknown c.622C>T p.Q208X rs61749729
?/? Unknown c.629A>T p.K210I rs61749730
?/? Unknown c.633G>C p.R211S rs61749731
?/? Unknown c.64A>T p.K22X rs62641234
?/? Unknown c.666C>G p.V222V rs61749735
?/? Unknown c.674C>G p.P225R rs61749715
?/? Unknown c.679C>G p.Q227E rs61749737
?/? Unknown c.683C>G p.T228S rs61749738
?/? Unknown c.686C>T p.S229L rs61749739
?/? Unknown c.690A>C p.P230P rs61749740
?/? Unknown c.695G>C p.G232A rs61748422
?/? Unknown c.710G>T p.G237V rs62846063
?/? Unknown c.720C>T p.T240T rs61749746
?/? Unknown c.730C>T p.Q244X rs61749747
?/? Unknown c.749G>A p.R250H rs61750227
?/? Unknown c.750C>T p.R250R rs61748424
?/? Unknown c.752C>T p.P251L rs61750229
?/? Unknown c.753C>T p.P251P rs63582063
?/? Unknown c.760A>T p.K254X rs63259763
?/? Unknown c.763C>T p.R255X rs61749721
?/? Unknown c.777C>T p.A259A rs1042870
?/? Unknown c.799A>T p.K267X rs61750238
?/? Unknown c.802C>T p.R268W rs61750239
?/? Unknown c.808C>T p.R270X rs61750240
?/? Unknown c.815C>T p.P272L rs61750243
?/? Unknown c.819G>T p.G273G rs61750245
?/? Unknown c.834C>T p.A278A rs61750248
?/? Unknown c.836C>T p.A279V rs61750249
?/? Unknown c.840C>T p.A280A rs61750251
?/? Unknown c.843C>T p.A281A rs61750252
?/? Unknown c.849C>G p.A283A rs61750253
?/? Unknown c.850A>G p.K284E rs61750255
?/? Unknown c.859G>C p.A287P rs61750257
?/? Unknown c.865A>T p.K289X rs61750259
?/? Unknown c.871T>G p.S291A rs61751360
?/? Unknown c.880C>T p.R294X rs61751362
?/? Unknown c.881G>C p.R294P rs61751366
?/? Unknown c.889C>T p.Q297X rs61751367
?/? Unknown c.897C>T p.T299T rs61748423
?/? Unknown c.898G>A p.V300I rs61751370
?/? Unknown c.903C>T p.L301L rs61751372
?/? Unknown c.904C>G p.P302A rs61751373
?/? Unknown c.905C>T p.P302L rs61749723
?/? Unknown c.906C>G p.P302P rs61751438
?/? Unknown c.909C>G p.I303M rs61751439
?/? Unknown c.910A>G p.K304E rs61751440
?/? Unknown c.914A>G p.K305R rs61751441
?/? Unknown c.916C>T p.R306C rs28935468
?/? Unknown c.917G>A p.R306H rs61751443
?/? Unknown c.925C>T p.R309W rs61751444
?/? Unknown c.932C>T p.T311M rs61751445
?/? Unknown c.942C>T p.I314I rs61751446
?/? Unknown c.948C>G p.V316V rs61751447
?/? Unknown c.953A>C p.E318A rs61751448
?/? Unknown c.964C>G p.P322A rs61751449
?/? Unknown c.965C>T p.P322L rs61751450
?/? Unknown c.984C>T p.L328L rs61751442
?/? Unknown c.999G>T p.G333G rs61751451
?/? Unknown c.1189G>T p.E397X rs56268439

13 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 chr6:76607115 p.E216V rs28936390 Possible polymorphism -
?/? Unknown chr6:76607736 p.H246R rs28936391 Possible polymorphism -
?/? Unknown chr6:76621617 p.Y374H rs61732664 Possible polymorphism -
?/? Unknown chr6:76621673 p.T392T rs2273857 Possible polymorphism -
?/? Unknown chr6:76633010 p.D574D rs11756446 Possible polymorphism -
?/? Unknown chr6:76653307 p.T845I rs55662069 Possible polymorphism -
?/? Unknown chr6:76653408 p.D879N rs60970824 Possible polymorphism -
?/? Unknown chr6:76659002 p.E994E rs55905349 Possible polymorphism -
?/? Unknown chr6:76659111 p.D1031Y rs61739689 Possible polymorphism -
?/? Unknown chr6:76674955 p.C1101C rs9443199 Possible polymorphism -
?/? Unknown chr6:76674981 p.K1110T rs1045754 Possible polymorphism -
?/? Unknown chr6:76680623 p.K1188R rs61734891 Possible polymorphism -
?/? Unknown chr6:76681258 p.D1223N rs41269323 Possible polymorphism -

11 entries in MYO7A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.1373A>T p.458N>I rs28934903
?/? Unknown c.1410C>G p.F470L rs1052031
?/? Unknown c.1804G>A p.E602K rs2276282
?/? Unknown c.2381T>C p.F794S rs1132034
?/? Unknown c.2618G>A p.R873Q rs1052032
?/? Unknown c.47T>C p.L16S rs1052030
?/? Unknown c.4996A>T p.S1666C rs2276288
?/? Unknown c.5715A>G p.K1905K rs2276293
?/? Unknown c.5860C>A p.L1954I rs948962
?/? Unknown c.6424G>A p.D2142N rs1132036
?/? Unknown c.783T>C p.G261G rs762667

9 entries in OTOF

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.42G>A p.R14R rs6734111
?/? Unknown c.158C>T p.A53V rs1879761
?/? Unknown c.2215-83C>T - rs4665855
?/? Unknown c.2452C>T p.R818W rs2272070
?/? Unknown c.2580C>G p.V860V rs2272069
?/? Unknown c.2613C>T p.L871L rs2272068
?/? Unknown c.2703G>A p.S901S rs4997760
?/? Unknown c.2736G>C p.L912L rs4335905
?/? Unknown c.4677G>A p.V155V rs2272071

28 entries in PCDH15

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr10:55252133 p.P1787S rs61862390
?/? Unknown chr10:55252206 p.P1762P rs58461416
?/? Unknown chr10:55252433 p.P1687S rs61862391
?/? Unknown chr10:55252559 p.L1645L rs61862392
?/? Unknown chr10:55252600 p.A1631E rs56332160
?/? Unknown chr10:55252608 p.T1628T rs16937781
?/? Unknown chr10:55252911 p.P1527P rs10825114
?/? Unknown chr10:55257206 p.P1440P rs12246234
?/? Unknown chr10:55261259 p.Q1342K rs61731387
?/? Unknown chr10:55296414 p.D1237D rs61731382
?/? Unknown chr10:55296452 p.T1225A rs61731381
?/? Unknown chr10:55389602 p.V1006V rs41307518
?/? Unknown chr10:55391642 p.R962L rs45483395
?/? Unknown chr10:55425497 p.R929Q rs2135720
?/? Unknown chr10:55452749 p.I812T rs61731363
?/? Unknown chr10:55452799 p.A795A rs61731362
?/? Unknown chr10:55562648 p.N637S rs61731389
?/? Unknown chr10:55582948 p.A568T rs61730754
?/? Unknown chr10:55583001 p.V550G rs61735482
?/? Unknown chr10:55614978 p.V454V rs61735479
?/? Unknown chr10:55614980 p.V454I rs61735473
?/? Unknown chr10:55625450 p.D435A rs4935502
?/? Unknown chr10:55625491 p.T421T rs7921598
?/? Unknown chr10:55625616 p.G380S rs10825269
?/? Unknown chr10:55666614 p.P320P rs41274634
?/? Unknown chr10:55666642 p.R311Q rs61731390
?/? Unknown chr10:55776179 p.G182G rs34164469
?/? Unknown chr10:56093974 p.S19A rs11004439

16 entries in PRF1

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
?/? Unknown rs28933374 c.1034C>T p.P345L
?/? Unknown rs12161733 c.10C>T p.R4C
?/? Unknown rs35418374 c.11G>A p.R4H
?/? Unknown rs1042652 c.1276G>A p.G426S
?/? Unknown rs28933376 c.1304C>T p.T435M
?/? Unknown rs2228019 c.1377C>T p.P459P
?/? Unknown rs35947132 c.272C>T p.A91V
?/? Unknown rs34279237 c.376C>T p.R126C
?/? Unknown rs12263572 c.403G>A p.V135M
?/? Unknown rs61737403 c.605C>A p.A148A
?/? Unknown rs35329429 c.726C>T p.C242C
?/? Unknown rs28933375 c.755A>G p.N252S
?/? Unknown rs885821 c.822C>T p.A274A
?/? Unknown rs28933973 c.834C>T p.R225W
?/? Unknown rs885822 c.900C>T p.H300H
?/? Unknown rs2228018 c.96G>A p.K32K

6 entries in RAB27A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
-?/-? Unknown chr15:53308189G>T p.T85P rs719705
-?/-? Unknown chr15:53308190A>T p.L84F rs4340274
-?/-? Unknown chr15:53309913G>T p.W73G rs28938176
-?/-? Unknown chr15:53309945C>G p.T62S rs1050930
-?/-? Unknown chr15:53314282A>C p.E48A rs1131388
-?/-? Unknown chr15:53314283C>G p.E48Q rs1131387

69 entries in SERPINA1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.-5+20C>T - rs1243160
?/? Unknown 25C>T p.I9I rs11558260
?/? Unknown c.*1555C>T - rs56325294
?/? Unknown c.*1C>T - rs72547410
?/? Unknown c.*3G>T - rs1802960
?/? Unknown c.*7C>T - rs3191219
?/? Unknown c.-10T>C - rs17287271
?/? Unknown c.-4-81C>T - rs2749546
?/? Unknown c.-5+24A>G - rs60947266
?/? Unknown c.-5+24_-5+25insC - rs2854254
?/? Unknown c.-5+42T>C - rs2749523
?/? Unknown c.-5+45G>A - rs6575424
?/? Unknown c.1021G>A p.D341N rs28929471
?/? Unknown c.1052delT p.L351fx rs72555374
?/? Unknown c.1065+10C>T - rs56388024
?/? Unknown c.1065+31C>A - rs2749521
?/? Unknown c.1065+68T>A - rs2753939
?/? Unknown c.1066-99G>A - rs74341584
?/? Unknown c.1081delG p.Val361fx rs72555357
?/? Unknown c.1086G>T p.L362L rs1802961
?/? Unknown c.1096G>A p.Glu366Lys rs28929474
?/? Unknown c.109A>G p.Thr37Ala rs11558262
?/? Unknown c.1131A>T p.Leu377Phe rs28929473
?/? Unknown c.1177C>T p.Pro393Ser rs61761869
?/? Unknown c.1201C>A p.Gln401Lys rs17850837
?/? Unknown c.1246A>C p.T416P rs3191200
?/? Unknown c.187C>T p.Arg63Cys rs28931570
?/? Unknown c.194T>C p.Leu65Pro rs28931569
?/? Unknown c.211A>C p.S71R rs11575873
?/? Unknown c.230C>T p.Ser77Phe rs55819880
?/? Unknown c.272G>A p.Gly91Glu rs28931568
?/? Unknown c.347T>A p.Ile116Asn rs28931572
?/? Unknown c.415G>A p.Gly139Ser rs11558261
?/? Unknown c.435C>A p.Ser145Arg rs11558263
?/? Unknown c.522C>T p.T174T rs72552402
?/? Unknown c.646+74_646+75ins2 - rs71301920
?/? Unknown c.646+78_646+79ins2 - rs34832705
?/? Unknown c.650A>C p.Lys217Thr rs11558265
?/? Unknown c.659G>T p.Arg220Ile rs11558257
?/? Unknown c.663C>T p.P221P rs1140397
?/? Unknown c.673A>C p.K225Q rs11558264
?/? Unknown c.718G>A p.V240Met rs72552401
?/? Unknown c.739C>T p.Arg247Cys rs28929470
?/? Unknown c.774G>A p.K258K rs34112109
?/? Unknown c.819C>T p.T273T rs2230075
?/? Unknown c.83A>G p.Gln28Arg rs11558259
?/? Unknown c.907G>T p.E303X rs1802963
?/? Unknown c.948_949insC - rs35624994
?/? Unknown c.964G>T p.Asp322Tyr rs55704149
?/? Unknown c.973A>T p.Ser325Cys rs1802962
?/? Unknown c.374G>A p.Arg125His rs709932
?/? Unknown c.424C>T p.L142L rs20546
?/? Unknown c.710T>C p.Val237Ala rs6647
?/? Unknown c.768T>G p.Cys256Trp rs8350
?/? Unknown c.840T>C p.D280D rs1049800
?/? Unknown c.863A>T p.Glu288Val rs17580
?/? Unknown c.1068C>T p.A356A rs9630
?/? Unknown c.1071G>C p.V357V rs10427
?/? Unknown c.1078G>A p.Ala360Thr rs1802959
?/? Unknown c.1082T>C p.Val361Ala rs1131139
?/? Unknown c.1083G>A p.V361V rs13868
?/? Unknown c.1084C>A p.Leu362Met rs1131154
?/? Unknown c.1089C>G p.T363T rs1050469
?/? Unknown c.1101A>G p.K367K rs1050520
?/? Unknown c.1117G>T p.Gly373Trp rs12077
?/? Unknown c.1156C>T p.Pro386Ser rs12233
?/? Unknown c.1188C>T p.F396F rs13170
?/? Unknown c.1200A>C p.Glu400Asp rs1303
?/? Unknown c.*80C>T - rs1243163

2 entries in SH2D1A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.48C>A p.G16G rs72610640
?/? Unknown c.302C>T p.P101L rs28935184

12 entries in SLC26A4

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr7:107089337A>C p.G5G rs7811324
?/? Unknown chr7:107089345C>T p.S8L rs34942046
?/? Unknown chr7:107101994G>T p.A189S rs35045430
?/? Unknown chr7:107111019C>T p.P301L rs34373141
?/? Unknown chr7:107111187A>T p.N324Y rs36039758
?/? Unknown chr7:107117901A>C p.T416P rs28939086
?/? Unknown chr7:107128804C>T p.V577A rs56017519
?/? Unknown chr7:107128864C>T p.L597S rs55638457
?/? Unknown chr7:107129530G>T p.V609G rs17154335
?/? Unknown chr7:107132036G>T p.D687Y rs35548413
?/? Unknown chr7:107137775C>T p.D710D rs17154347
?/? Unknown chr7:107137863A>G p.G740S rs17154353

7 entries in STX11

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
?/? Unknown rs34470310 chr6:144549483A>C p.L9R
?/? Unknown rs1802414 chr6:144549548C>G p.E31Q
?/? Unknown rs17073498 chr6:144549603A>G p.R49Q
?/? Unknown rs1133248 chr6:144550068A>T p.L204H
?/? Unknown rs45574234 chr6:144550256A>G p.V267M
?/? Unknown rs9496891 chr6:144550286A>G p.T277A
?/? Unknown rs34282765 chr6:144550296C>T p.C280Y

15 entries in STXBP2

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.35A>G p.Glu12Gly rs77234880
?/? Unknown c.165C>T p.I55I rs11538945
?/? Unknown c.241_242insG - rs34847008
?/? Unknown c.495C>T p.R165R rs2303116
?/? Unknown c.816C>T p.S272S rs78010345
?/? Unknown c.849G>A p.E283E rs34450592
?/? Unknown c.1191G>A p.A397A rs76836497
?/? Unknown c.1193T>G p.Val398Gly rs78313078
?/? Unknown c.1443T>C p.D481D rs10001
?/? Unknown c.1576A>G p.Ile526Val rs6791
?/? Unknown c.1586G>C p.Arg529Pro rs35490401
?/? Unknown c.1590G>A p.A530A rs61736589
?/? Unknown c.1621G>A p.Gly541Ser rs61736587
?/? Unknown c.1663A>G p.Arg555Gly rs61736586
?/? Unknown c.*12G>A - rs28464386

6 entries in TMC1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr9:74493473 p.D15D rs2589615
?/? Unknown chr9:74505258 p.E81K rs1796993
?/? Unknown chr9:74544913 p.R141W rs11143384
?/? Unknown chr9:74596979 p.M486T rs17058153
?/? Unknown chr9:74620896 p.F571F rs34532421
?/? Unknown chr9:74635201 p.Y715F rs41310067

4 entries in TMIE

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr3:46722294 p.A35G rs12489552
?/? Unknown chr3:46725649 p.R81C rs28942096
?/? Unknown chr3:46725658 p.R84W rs28942097
?/? Unknown chr3:46725682 p.R92W rs28941781

9 entries in TMPRSS3

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr21:42668965 p.A299T rs56264519
?/? Unknown chr21:42668966 p.C298C rs56178910
?/? Unknown chr21:42669030 p.P277L rs28939084
?/? Unknown chr21:42676236 p.I253V rs2839500
?/? Unknown chr21:42678706 p.V151V rs2839501
?/? Unknown chr21:42681595 p.Q144Q rs61731564
?/? Unknown chr21:42681696 p.G111S rs35227181
?/? Unknown chr21:42682161 p.A90T rs45598239
?/? Unknown chr21:42683153 p.V53I rs928302

15 entries in UNC13D

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr17:71335662C>T p.H1084H rs61753922
?/? Unknown chr17:71335716C>T p.E1066E rs7210574
?/? Unknown chr17:71337715C>T p.E981E rs35628234
?/? Unknown chr17:71338086A>G p.R928C rs35037984
?/? Unknown chr17:71338800C>T p.K867E rs1135688
?/? Unknown chr17:71338825C>G p.H858Q rs17496835
?/? Unknown chr17:71342387G>T p.T666T rs34956653
?/? Unknown chr17:71342611C>T p.T659T rs2290770
?/? Unknown chr17:71343428A>G p.T541M rs3744025
?/? Unknown chr17:71347578A>C p.A331D rs61754945
?/? Unknown chr17:71347741A>G p.L302F rs55661958
?/? Unknown chr17:71347757C>G p.P296P rs7223416
?/? Unknown chr17:71347912A>G p.I283V rs61754871
?/? Unknown chr17:71350732A>G p.P93P rs3744007
?/? Unknown chr17:71350921C>T p.A59T rs9904366

14 entries in USH1C

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr11:17473736 p.A871T rs56165709
?/? Unknown chr11:17473754 p.K865E rs56114362
?/? Unknown chr11:17474928 p.I833I rs34581703
?/? Unknown chr11:17476318 p.E819D rs1064074
?/? Unknown chr11:17479207 p.A783S rs34077456
?/? Unknown chr11:17479214 p.V780V rs10832796
?/? Unknown chr11:17487669 p.P608R rs41282932
?/? Unknown chr11:17487722 p.A590A rs17776775
?/? Unknown chr11:17499015 p.P396P rs2240487
?/? Unknown chr11:17500966 p.Q320H rs41282934
?/? Unknown chr11:17500980 p.E316Q rs35336155
?/? Unknown chr11:17505454 p.V130I rs55843567
?/? Unknown chr11:17509283 p.G127G rs41282942
?/? Unknown chr11:17509370 p.L98L rs34055234

80 entries in USH2A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr1:213874630A>G p.R5031W rs56038610
?/? Unknown chr1:213874645C>T p.K5026E rs41308435
?/? Unknown chr1:213879186A>T p.I4996F rs41308423
?/? Unknown chr1:213887525A>G p.T4918M rs56136489
?/? Unknown chr1:213888562C>T p.G4838E rs41315587
?/? Unknown chr1:213888594A>G p.A4827A rs41304083
?/? Unknown chr1:213890684C>T p.R4739K rs12085354
?/? Unknown chr1:213890694C>T p.E4736K rs12085358
?/? Unknown chr1:213890706G>T p.P4732T rs55838724
?/? Unknown chr1:213890714C>T p.R4729K rs12085362
?/? Unknown chr1:213910996C>T p.G4692R rs45549044
?/? Unknown chr1:213911086C>G p.Q4662E rs41302237
?/? Unknown chr1:213914167C>T p.R4570H rs730254
?/? Unknown chr1:213914685C>T p.E4397E rs2009923
?/? Unknown chr1:213915210C>T p.T4222T rs2797234
?/? Unknown chr1:213915264C>T p.T4204T rs2797235
?/? Unknown chr1:213920315A>G p.Y4031Y rs55921307
?/? Unknown chr1:213920328C>T p.Q4027R rs12044967
?/? Unknown chr1:213968115C>T p.L3982L rs2820718
?/? Unknown chr1:213968133C>T p.T3976T rs55961436
?/? Unknown chr1:213968154A>T p.P3969P rs61635304
?/? Unknown chr1:213968325C>T p.E3912E rs56053654
?/? Unknown chr1:213981374G>T p.P3893T rs41303285
?/? Unknown chr1:213981449C>T p.M3868V rs35309576
?/? Unknown chr1:213983186A>G p.T3835I rs11120616
?/? Unknown chr1:213999791A>G p.R3689X rs41314534
?/? Unknown chr1:214019892C>T p.V3619I rs55967206
?/? Unknown chr1:214019896A>G p.N3617N rs12073994
?/? Unknown chr1:214019911G>T p.V3612V rs61276761
?/? Unknown chr1:214026790G>T p.E3411A rs10864198
?/? Unknown chr1:214053717A>G p.Y3241Y rs6660707
?/? Unknown chr1:214053845A>G p.N3199D rs4129843
?/? Unknown chr1:214057037A>G p.D3165D rs41305094
?/? Unknown chr1:214057073A>G p.C3153C rs73090721
?/? Unknown chr1:214057102C>T p.D3144N rs11120645
?/? Unknown chr1:214077984C>T p.T3115A rs56032526
?/? Unknown chr1:214078031C>T p.N3099S rs41277194
?/? Unknown chr1:214078065C>T p.E3088K rs56056328
?/? Unknown chr1:214117748A>G p.L2886F rs41277200
?/? Unknown chr1:214117780C>T p.R2875Q rs12118814
?/? Unknown chr1:214118829C>T p.V2820I rs59174500
?/? Unknown chr1:214118968A>G p.S2773S rs56829872
?/? Unknown chr1:214128929A>G p.V2562A rs56385601
?/? Unknown chr1:214140128C>T p.P2502P rs12404427
?/? Unknown chr1:214140750C>T p.R2474K rs12746558
?/? Unknown chr1:214140837A>G p.S2445F rs41315579
?/? Unknown chr1:214210672C>T p.R2292H rs41277210
?/? Unknown chr1:214233077G>T p.E2238A rs41277212
?/? Unknown chr1:214239003A>G p.I2169T rs10864219
?/? Unknown chr1:214240454C>G p.W2133C rs55958016
?/? Unknown chr1:214286404A>G p.I2106T rs6657250
?/? Unknown chr1:214286451C>T p.L2090L rs56245532
?/? Unknown chr1:214310140C>T p.Y1992C rs41303287
?/? Unknown chr1:214310257C>G p.A1953G rs41302239
?/? Unknown chr1:214313099C>T p.E1913E rs41277216
?/? Unknown chr1:214324817G>T p.G1671G rs56110889
?/? Unknown chr1:214324836A>G p.I1665T rs56222536
?/? Unknown chr1:214415258A>T p.K1529I rs41303255
?/? Unknown chr1:214415387A>G p.R1486K rs1805049
?/? Unknown chr1:214430213C>T p.S1457S rs56013136
?/? Unknown chr1:214438416A>G p.N1315N rs41303257
?/? Unknown chr1:214440008A>G p.G1132D rs34596189
?/? Unknown chr1:214447357C>T p.S1066N rs41302241
?/? Unknown chr1:214486900A>G p.N820S rs34447581
?/? Unknown chr1:214487085C>G p.F758L rs61747101
?/? Unknown chr1:214490898C>G p.G713R rs696723
?/? Unknown chr1:214490926A>G p.D703D rs45555435
?/? Unknown chr1:214529285A>T p.D644V rs1805048
?/? Unknown chr1:214532249A>G p.C577C rs41313732
?/? Unknown chr1:214532317C>G p.L555V rs35818432
?/? Unknown chr1:214563483A>C p.L502L rs35285592
?/? Unknown chr1:214563555C>G p.E478D rs35730265
?/? Unknown chr1:214563570C>T p.T473T rs1805050
?/? Unknown chr1:214565484C>T p.R310Q rs3820464
?/? Unknown chr1:214565534A>C p.L293L rs3767698
?/? Unknown chr1:214605014C>T p.V230M rs45500891
?/? Unknown chr1:214658557C>T p.V191V rs73102592
?/? Unknown chr1:214658626C>T p.T168T rs4253963
?/? Unknown chr1:214661929C>T p.A125T rs10779261
?/? Unknown chr1:214662224A>G p.A26A rs59139861

14 entries in WAS

Path.
Allele Descending
Ascending
dbSNP ID Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
?/? Unknown rs28935178 p.P58R
?/? Unknown rs28936079 p.L270P
?/? Unknown rs11545907 c.121C>T p.R41X
?/? Unknown rs58371799 c.273+11_273+12ins2 -
?/? Unknown rs35351086 c.361-48_361-47insG -
?/? Unknown rs2737796 c.559+77G>C -
?/? Unknown rs2737798 c.734+99G>C -
?/? Unknown rs34164243 c.777+79_777+80insC -
?/? Unknown rs28379745 c.931+82T>G -
?/? Unknown rs2737799 c.995T>C p.V332A
?/? Unknown rs57489208 c.1354G>A p.E452K
?/? Unknown rs11357627 c.1454-520delT -
?/? Unknown rs3215413 c.1454-118_1454-117insT -
?/? Unknown rs35359501 c.1455C>T p.D485D

113 entries in WFS1

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chr4:6330092C>T p.S3S rs71524363
?/? Unknown chr4:6330130A>G p.P16L rs34653805
?/? Unknown chr4:6330154A>G p.R24H rs71524364
?/? Unknown chr4:6330168C>G p.A29P rs71530922
?/? Unknown chr4:6330179A>G p.S32S rs71539660
?/? Unknown chr4:6330207C>T p.R42X rs71530923
?/? Unknown chr4:6330259C>T p.A59V rs71524365
?/? Unknown chr4:6330278C>T p.A65A rs71530924
?/? Unknown chr4:6330308A>G p.D75D rs35216268
?/? Unknown chr4:6341619A>G p.G107E rs71530914
?/? Unknown chr4:6341652A>C p.D118A rs71524349
?/? Unknown chr4:6341681G>T p.D128Y rs71524350
?/? Unknown chr4:6341736A>C p.R146L rs34446752
?/? Unknown chr4:6343825C>G p.G154A rs71530927
?/? Unknown chr4:6343835C>T p.S157S rs71524347
?/? Unknown chr4:6343868C>T p.S168S rs71537675
?/? Unknown chr4:6343941A>C p.K193Q rs41264699
?/? Unknown chr4:6343972A>G p.N203S rs71537676
?/? Unknown chr4:6343976C>T p.V204V rs71537677
?/? Unknown chr4:6344556C>T p.Q215X rs71530928
?/? Unknown chr4:6344597C>G p.R228R rs1801213
?/? Unknown chr4:6347680A>G p.I242V rs71524380
?/? Unknown chr4:6347682C>T p.I242I rs71524381
?/? Unknown chr4:6347810A>G p.R285H rs61735404
?/? Unknown chr4:6353285A>G p.V288M rs71537685
?/? Unknown chr4:6353402A>C p.L327I rs71537678
?/? Unknown chr4:6353420A>G p.V333I rs1801212
?/? Unknown chr4:6353446C>T p.F341F rs56072215
?/? Unknown chr4:6353557A>C p.T378T rs71530904
?/? Unknown chr4:6353576A>G p.E385K rs71524353
?/? Unknown chr4:6353581C>T p.P386P rs71524354
?/? Unknown chr4:6353608C>T p.V395V rs1801206
?/? Unknown chr4:6353611C>T p.N396N rs71524355
?/? Unknown chr4:6353660G>T p.F413V rs71524356
?/? Unknown chr4:6353700C>T p.C426Y rs35218685
?/? Unknown chr4:6353710C>T p.C429C rs1801207
?/? Unknown chr4:6353717C>G p.L432V rs35031397
?/? Unknown chr4:6353731C>T p.T436T rs71539646
?/? Unknown chr4:6353790A>G p.R456H rs1801208
?/? Unknown chr4:6353798C>T p.L459L rs1801209
?/? Unknown chr4:6353805C>G p.T461S rs71530925
?/? Unknown chr4:6353816A>G p.A465T rs71524357
?/? Unknown chr4:6353818C>T p.A465A rs71530905
?/? Unknown chr4:6353915A>G p.V498I rs71524358
?/? Unknown chr4:6353923C>T p.N500N rs1801214
?/? Unknown chr4:6353934C>T p.P504L rs28937892
?/? Unknown chr4:6353953A>G p.Y510Y rs35789242
?/? Unknown chr4:6354067C>G p.L548L rs71539648
?/? Unknown chr4:6354068C>T p.L549L rs1801211
?/? Unknown chr4:6354097C>T p.R558R rs61735402
?/? Unknown chr4:6354098A>G p.A559T rs55814513
?/? Unknown chr4:6354106C>T p.I561I rs71530906
?/? Unknown chr4:6354136C>G p.P571P rs71524359
?/? Unknown chr4:6354147C>G p.A575G rs71524360
?/? Unknown chr4:6354148C>T p.A575A rs2230719
?/? Unknown chr4:6354149A>G p.G576S rs1805069
?/? Unknown chr4:6354178C>T p.F585F rs1801210
?/? Unknown chr4:6354183A>G p.R587Q rs71539657
?/? Unknown chr4:6354184C>G p.R587R rs35568345
?/? Unknown chr4:6354193A>G p.T590T rs71532858
?/? Unknown chr4:6354220A>C p.V599V rs71524361
?/? Unknown chr4:6354223C>T p.T600T rs71524362
?/? Unknown chr4:6354228C>T p.A602V rs2230720
?/? Unknown chr4:6354248C>T p.L609L rs71532859
?/? Unknown chr4:6354255A>G p.R611H rs734312
?/? Unknown chr4:6354307G>T p.T628T rs71532860
?/? Unknown chr4:6354308C>T p.R629W rs71530910
?/? Unknown chr4:6354392A>G p.M657V rs71532861
?/? Unknown chr4:6354435C>T p.A671V rs71530907
?/? Unknown chr4:6354442C>T p.C673C rs71524375
?/? Unknown chr4:6354470A>G p.M683V rs71524376
?/? Unknown chr4:6354475A>G p.A684A rs71539668
?/? Unknown chr4:6354507G>T p.G695V rs28937891
?/? Unknown chr4:6354519C>T p.T699M rs28937894
?/? Unknown chr4:6354527A>G p.G702S rs71532862
?/? Unknown chr4:6354542A>G p.V707I rs71524377
?/? Unknown chr4:6354547C>T p.R708R rs61735401
?/? Unknown chr4:6354569A>G p.A716T rs28937893
?/? Unknown chr4:6354572A>G p.E717K rs71532863
?/? Unknown chr4:6354581A>G p.I720V rs1805070
?/? Unknown chr4:6354594C>T p.P724L rs28937890
?/? Unknown chr4:6354607C>T p.G728G rs71530908
?/? Unknown chr4:6354617C>T p.R732C rs71526458
?/? Unknown chr4:6354628C>T p.Y735Y rs71530911
?/? Unknown chr4:6354629A>G p.G736S rs71532864
?/? Unknown chr4:6354630A>G p.G736D rs71530912
?/? Unknown chr4:6354647C>T p.C742R rs71532865
?/? Unknown chr4:6354649C>G p.C742W rs71532866
?/? Unknown chr4:6354705C>T p.A761V rs71526459
?/? Unknown chr4:6354733A>G p.F770F rs34384569
?/? Unknown chr4:6354739C>T p.R772R rs71532867
?/? Unknown chr4:6354745A>G p.K774K rs2230721
?/? Unknown chr4:6354750A>T p.E776V rs56002719
?/? Unknown chr4:6354757C>T p.T778T rs71526460
?/? Unknown chr4:6354770C>T p.F783L rs71526461
?/? Unknown chr4:6354779A>G p.G786S rs71578980
?/? Unknown chr4:6354800C>T p.R793C rs71526462
?/? Unknown chr4:6354811C>T p.D796D rs71532868
?/? Unknown chr4:6354821A>G p.K800E rs55674815
?/? Unknown chr4:6354847C>T p.S808S rs56035336
?/? Unknown chr4:6354848A>G p.E809K rs71539673
?/? Unknown chr4:6354856A>G p.K811K rs1046314
?/? Unknown chr4:6354875A>G p.R818C rs35932623
?/? Unknown chr4:6354892C>T p.I823I rs1801215
?/? Unknown chr4:6354915A>G p.G831D rs28937895
?/? Unknown chr4:6354947C>T p.L842F rs71530915
?/? Unknown chr4:6354988A>G p.S855S rs1046316
?/? Unknown chr4:6355012C>G p.I863M rs71524393
?/? Unknown chr4:6355019A>G p.D866N rs3821945
?/? Unknown chr4:6355026A>G p.R868H rs56393026
?/? Unknown chr4:6355034A>G p.V871M rs71532874
?/? Unknown chr4:6355081C>T p.F886F rs55973732
?/? Unknown chr4:6355090A>G p.A889A rs71526454

14 entries in XIAP

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown chrX:122847469C>T p.F92F rs45575532
?/? Unknown chrX:122847513A>G p.N107S rs28382721
?/? Unknown chrX:122847591C>T p.S133F rs28382722
?/? Unknown chrX:122847919G>T p.D242E rs28382723
?/? Unknown chrX:122862192A>C p.Q423P rs5956583
?/? Unknown chrX:122868596A>G p.I460V rs61757631
?/? Unknown chrX:122868605A>G p.V463I rs61752966
?/? Unknown chrX:122868621C>T p.L468P rs61757632
?/? Unknown chrX:122868629C>T p.C471R rs61752967
?/? Unknown chrX:122868649A>G p.A477A rs61757633
?/? Unknown chrX:122868658A>G p.K480K rs61757634
?/? Unknown chrX:122868670C>G p.C484W rs61757635
?/? Unknown chrX:122868674A>G p.T486A rs61757636
?/? Unknown chrX:122868699A>T p.I494N rs61752968

For research use only. Husami et al. 2006-2010