LOVD - Variant listings for CDH23

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

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DNA change c.2596delC
Protein p.P866fx
dbSNP ID rs34768093

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. Husami et al. 2006-2010

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