Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919738G>ACA502036827USH1Gc.1098C>T (p.Arg366=)
c.*697C>T (n.*697C>T)
c.789C>T (p.Arg263=)
17g.74919738G>CCA502036828USH1Gc.1098C>G (p.Arg366=)
c.*697C>G (n.*697C>G)
c.789C>G (p.Arg263=)
17g.74919738G>TCA502036829USH1Gc.1098C>A (p.Arg366=)
c.*697C>A (n.*697C>A)
c.789C>A (p.Arg263=)
17g.74919739C>ACA400961738USH1Gc.1097G>T (p.Arg366Leu)
c.*696G>T (n.*696G>T)
c.788G>T (p.Arg263Leu)
17g.74919739C=CA2275255235USH1Gc.1097G= (p.Arg366=)
c.*696G= (n.*696G=)
c.788G= (p.Arg263=)
17g.74919739C>GCA400961740USH1Gc.1097G>C (p.Arg366Pro)
c.*696G>C (n.*696G>C)
c.788G>C (p.Arg263Pro)
17g.74919739C>TCA400961742USH1Gc.1097G>A (p.Arg366His)
c.*696G>A (n.*696G>A)
c.788G>A (p.Arg263His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919740G>ACA400961745USH1Gc.1096C>T (p.Arg366Cys)
c.*695C>T (n.*695C>T)
c.787C>T (p.Arg263Cys)
17g.74919740G>CCA400961746USH1Gc.1096C>G (p.Arg366Gly)
c.*695C>G (n.*695C>G)
c.787C>G (p.Arg263Gly)
 dbSNP
17g.74919740G=CA2275255236USH1Gc.1096C= (p.Arg366=)
c.*695C= (n.*695C=)
c.787C= (p.Arg263=)
17g.74919740G>TCA400961748USH1Gc.1096C>A (p.Arg366Ser)
c.*695C>A (n.*695C>A)
c.787C>A (p.Arg263Ser)
 gnomAD v4
17g.74919741G>ACA502036834USH1Gc.1095C>T (p.Asp365=)
c.*694C>T (n.*694C>T)
c.786C>T (p.Asp262=)
 gnomAD v4
17g.74919741G>CCA400961751USH1Gc.1095C>G (p.Asp365Glu)
c.*694C>G (n.*694C>G)
c.786C>G (p.Asp262Glu)
 gnomAD v4
17g.74919741G>TCA400961752USH1Gc.1095C>A (p.Asp365Glu)
c.*694C>A (n.*694C>A)
c.786C>A (p.Asp262Glu)
17g.74919742T>ACA400961757USH1Gc.1094A>T (p.Asp365Val)
c.*693A>T (n.*693A>T)
c.785A>T (p.Asp262Val)
 gnomAD v4
17g.74919742T>CCA400961759USH1Gc.1094A>G (p.Asp365Gly)
c.*693A>G (n.*693A>G)
c.785A>G (p.Asp262Gly)
17g.74919742T>GCA400961755USH1Gc.1094A>C (p.Asp365Ala)
c.*693A>C (n.*693A>C)
c.785A>C (p.Asp262Ala)
17g.74919743C>ACA400961761USH1Gc.1093G>T (p.Asp365Tyr)
c.*692G>T (n.*692G>T)
c.784G>T (p.Asp262Tyr)
17g.74919743C=CA2275255237USH1Gc.1093G= (p.Asp365=)
c.*692G= (n.*692G=)
c.784G= (p.Asp262=)
17g.74919743C>GCA400961762USH1Gc.1093G>C (p.Asp365His)
c.*692G>C (n.*692G>C)
c.784G>C (p.Asp262His)
17g.74919743C>TCA8753931USH1Gc.1093G>A (p.Asp365Asn)
c.*692G>A (n.*692G>A)
c.784G>A (p.Asp262Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919744C>ACA400961766USH1Gc.1092G>T (p.Gln364His)
c.*691G>T (n.*691G>T)
c.783G>T (p.Gln261His)
17g.74919744C=CA2275255238USH1Gc.1092G= (p.Gln364=)
c.*691G= (n.*691G=)
c.783G= (p.Gln261=)
17g.74919744C>GCA400961767USH1Gc.1092G>C (p.Gln364His)
c.*691G>C (n.*691G>C)
c.783G>C (p.Gln261His)
 dbSNP gnomAD v2 gnomAD v4
17g.74919744C>TCA502036848USH1Gc.1092G>A (p.Gln364=)
c.*691G>A (n.*691G>A)
c.783G>A (p.Gln261=)
17g.74919745T>ACA400961770USH1Gc.1091A>T (p.Gln364Leu)
c.*690A>T (n.*690A>T)
c.782A>T (p.Gln261Leu)
17g.74919745T>CCA400961771USH1Gc.1091A>G (p.Gln364Arg)
c.*690A>G (n.*690A>G)
c.782A>G (p.Gln261Arg)
 gnomAD v4
17g.74919745T>GCA400961772USH1Gc.1091A>C (p.Gln364Pro)
c.*690A>C (n.*690A>C)
c.782A>C (p.Gln261Pro)
17g.74919746G>ACA400961773USH1Gc.1090C>T (p.Gln364Ter)
c.*689C>T (n.*689C>T)
c.781C>T (p.Gln261Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919746G>CCA400961775USH1Gc.1090C>G (p.Gln364Glu)
c.*689C>G (n.*689C>G)
c.781C>G (p.Gln261Glu)
17g.74919746G=CA2275255239USH1Gc.1090C= (p.Gln364=)
c.*689C= (n.*689C=)
c.781C= (p.Gln261=)
17g.74919746G>TCA400961777USH1Gc.1090C>A (p.Gln364Lys)
c.*689C>A (n.*689C>A)
c.781C>A (p.Gln261Lys)
 gnomAD v4
17g.74919747C>ACA502036853USH1Gc.1089G>T (p.Leu363=)
c.*688G>T (n.*688G>T)
c.780G>T (p.Leu260=)
17g.74919747C=CA2275255240USH1Gc.1089G= (p.Leu363=)
c.*688G= (n.*688G=)
c.780G= (p.Leu260=)
17g.74919747C>GCA502036854USH1Gc.1089G>C (p.Leu363=)
c.*688G>C (n.*688G>C)
c.780G>C (p.Leu260=)
 dbSNP gnomAD v4
17g.74919747C>TCA502036855USH1Gc.1089G>A (p.Leu363=)
c.*688G>A (n.*688G>A)
c.780G>A (p.Leu260=)
17g.74919748A>CCA400961779USH1Gc.1088T>G (p.Leu363Arg)
c.*687T>G (n.*687T>G)
c.779T>G (p.Leu260Arg)
17g.74919748A>GCA400961781USH1Gc.1088T>C (p.Leu363Pro)
c.*687T>C (n.*687T>C)
c.779T>C (p.Leu260Pro)
17g.74919748A>TCA400961783USH1Gc.1088T>A (p.Leu363Gln)
c.*687T>A (n.*687T>A)
c.779T>A (p.Leu260Gln)
17g.74919749G>ACA502036859USH1Gc.1087C>T (p.Leu363=)
c.*686C>T (n.*686C>T)
c.778C>T (p.Leu260=)
 COSMIC
17g.74919749G>CCA400961784USH1Gc.1087C>G (p.Leu363Val)
c.*686C>G (n.*686C>G)
c.778C>G (p.Leu260Val)
17g.74919749G=CA2275255241USH1Gc.1087C= (p.Leu363=)
c.*686C= (n.*686C=)
c.778C= (p.Leu260=)
17g.74919749G>TCA293983674USH1Gc.1087C>A (p.Leu363Met)
c.*686C>A (n.*686C>A)
c.778C>A (p.Leu260Met)
 dbSNP
17g.74919750G>ACA8753932USH1Gc.1086C>T (p.Ser362=)
c.*685C>T (n.*685C>T)
c.777C>T (p.Ser259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919750G>CCA400961788USH1Gc.1086C>G (p.Ser362Arg)
c.*685C>G (n.*685C>G)
c.777C>G (p.Ser259Arg)
17g.74919750G=CA2275255242USH1Gc.1086C= (p.Ser362=)
c.*685C= (n.*685C=)
c.777C= (p.Ser259=)
17g.74919750G>TCA400961791USH1Gc.1086C>A (p.Ser362Arg)
c.*685C>A (n.*685C>A)
c.777C>A (p.Ser259Arg)
17g.74919751C>ACA8753933USH1Gc.1085G>T (p.Ser362Ile)
c.*684G>T (n.*684G>T)
c.776G>T (p.Ser259Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919751C=CA2275255243USH1Gc.1085G= (p.Ser362=)
c.*684G= (n.*684G=)
c.776G= (p.Ser259=)
17g.74919751C>GCA400961794USH1Gc.1085G>C (p.Ser362Thr)
c.*684G>C (n.*684G>C)
c.776G>C (p.Ser259Thr)
17g.74919751C>TCA400961796USH1Gc.1085G>A (p.Ser362Asn)
c.*684G>A (n.*684G>A)
c.776G>A (p.Ser259Asn)
17g.74919752T>ACA400961798USH1Gc.1084A>T (p.Ser362Cys)
c.*683A>T (n.*683A>T)
c.775A>T (p.Ser259Cys)
17g.74919752T>CCA400961800USH1Gc.1084A>G (p.Ser362Gly)
c.*683A>G (n.*683A>G)
c.775A>G (p.Ser259Gly)
17g.74919752T>GCA400961802USH1Gc.1084A>C (p.Ser362Arg)
c.*683A>C (n.*683A>C)
c.775A>C (p.Ser259Arg)
17g.74919753G>ACA502036866USH1Gc.1083C>T (p.Asn361=)
c.*682C>T (n.*682C>T)
c.774C>T (p.Asn258=)
17g.74919753G>CCA400961804USH1Gc.1083C>G (p.Asn361Lys)
c.*682C>G (n.*682C>G)
c.774C>G (p.Asn258Lys)
17g.74919753G>TCA400961806USH1Gc.1083C>A (p.Asn361Lys)
c.*682C>A (n.*682C>A)
c.774C>A (p.Asn258Lys)
17g.74919754T>ACA400961808USH1Gc.1082A>T (p.Asn361Ile)
c.*681A>T (n.*681A>T)
c.773A>T (p.Asn258Ile)
17g.74919754T>CCA8753934USH1Gc.1082A>G (p.Asn361Ser)
c.*681A>G (n.*681A>G)
c.773A>G (p.Asn258Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919754T>GCA8753935USH1Gc.1082A>C (p.Asn361Thr)
c.*681A>C (n.*681A>C)
c.773A>C (p.Asn258Thr)
 dbSNP ExAC gnomAD v2
17g.74919754T=CA2275255244USH1Gc.1082A= (p.Asn361=)
c.*681A= (n.*681A=)
c.773A= (p.Asn258=)
17g.74919755T>ACA400961814USH1Gc.1081A>T (p.Asn361Tyr)
c.*680A>T (n.*680A>T)
c.772A>T (p.Asn258Tyr)
 gnomAD v4
17g.74919755T>CCA400961816USH1Gc.1081A>G (p.Asn361Asp)
c.*680A>G (n.*680A>G)
c.772A>G (p.Asn258Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919755T>GCA400961812USH1Gc.1081A>C (p.Asn361His)
c.*680A>C (n.*680A>C)
c.772A>C (p.Asn258His)
17g.74919755T=CA2275255245USH1Gc.1081A= (p.Asn361=)
c.*680A= (n.*680A=)
c.772A= (p.Asn258=)
17g.74919756G>ACA502036879USH1Gc.1080C>T (p.Ala360=)
c.*679C>T (n.*679C>T)
c.771C>T (p.Ala257=)
17g.74919756G>CCA502036880USH1Gc.1080C>G (p.Ala360=)
c.*679C>G (n.*679C>G)
c.771C>G (p.Ala257=)
17g.74919756G>TCA502036881USH1Gc.1080C>A (p.Ala360=)
c.*679C>A (n.*679C>A)
c.771C>A (p.Ala257=)
17g.74919756_74919773dupCA2639747161USH1Gc.1063_1080dup (p.Ala360_Asn361insAspSerLeuGlySerAla)
c.*662_*679dup (n.*662_*679dup)
c.754_771dup (p.Ala257_Asn258insAspSerLeuGlySerAla)
 gnomAD v4
17g.74919757G>ACA8753936USH1Gc.1079C>T (p.Ala360Val)
c.*678C>T (n.*678C>T)
c.770C>T (p.Ala257Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919757G>CCA400961817USH1Gc.1079C>G (p.Ala360Gly)
c.*678C>G (n.*678C>G)
c.770C>G (p.Ala257Gly)
17g.74919757G=CA2275255246USH1Gc.1079C= (p.Ala360=)
c.*678C= (n.*678C=)
c.770C= (p.Ala257=)
17g.74919757G>TCA400961819USH1Gc.1079C>A (p.Ala360Asp)
c.*678C>A (n.*678C>A)
c.770C>A (p.Ala257Asp)
17g.74919758C>ACA400961823USH1Gc.1078G>T (p.Ala360Ser)
c.*677G>T (n.*677G>T)
c.769G>T (p.Ala257Ser)
17g.74919758C>GCA400961825USH1Gc.1078G>C (p.Ala360Pro)
c.*677G>C (n.*677G>C)
c.769G>C (p.Ala257Pro)
17g.74919758C>TCA400961826USH1Gc.1078G>A (p.Ala360Thr)
c.*677G>A (n.*677G>A)
c.769G>A (p.Ala257Thr)
17g.74919759A=CA2275255247USH1Gc.1077T= (p.Ser359=)
c.*676T= (n.*676T=)
c.768T= (p.Ser256=)
17g.74919759A>CCA400961829USH1Gc.1077T>G (p.Ser359Arg)
c.*676T>G (n.*676T>G)
c.768T>G (p.Ser256Arg)
17g.74919759A>GCA8753937USH1Gc.1077T>C (p.Ser359=)
c.*676T>C (n.*676T>C)
c.768T>C (p.Ser256=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919759A>TCA400961832USH1Gc.1077T>A (p.Ser359Arg)
c.*676T>A (n.*676T>A)
c.768T>A (p.Ser256Arg)
17g.74919760C>ACA400961834USH1Gc.1076G>T (p.Ser359Ile)
c.*675G>T (n.*675G>T)
c.767G>T (p.Ser256Ile)
17g.74919760C=CA2275255248USH1Gc.1076G= (p.Ser359=)
c.*675G= (n.*675G=)
c.767G= (p.Ser256=)
17g.74919760C>GCA400961837USH1Gc.1076G>C (p.Ser359Thr)
c.*675G>C (n.*675G>C)
c.767G>C (p.Ser256Thr)
 ClinVar dbSNP
17g.74919760C>TCA8753938USH1Gc.1076G>A (p.Ser359Asn)
c.*675G>A (n.*675G>A)
c.767G>A (p.Ser256Asn)
 dbSNP ExAC gnomAD v4
17g.74919761T>ACA400961839USH1Gc.1075A>T (p.Ser359Cys)
c.*674A>T (n.*674A>T)
c.766A>T (p.Ser256Cys)
17g.74919761T>CCA400961840USH1Gc.1075A>G (p.Ser359Gly)
c.*674A>G (n.*674A>G)
c.766A>G (p.Ser256Gly)
17g.74919761T>GCA400961842USH1Gc.1075A>C (p.Ser359Arg)
c.*674A>C (n.*674A>C)
c.766A>C (p.Ser256Arg)
17g.74919761_74919776delinsTGCCCAGGCTGTCATCCA2275255249USH1Gc.1060_1075delinsGATGACAGCCTGGGCA (p.Asp354=)
c.*659_*674delinsGATGACAGCCTGGGCA (n.*659_*674delinsGATGACAGCCTGGGCA)
c.751_766delinsGATGACAGCCTGGGCA (p.Asp251=)
17g.74919762G>ACA502036896USH1Gc.1074C>T (p.Gly358=)
c.*673C>T (n.*673C>T)
c.765C>T (p.Gly255=)
17g.74919762G>CCA502036895USH1Gc.1074C>G (p.Gly358=)
c.*673C>G (n.*673C>G)
c.765C>G (p.Gly255=)
17g.74919762G>TCA502036897USH1Gc.1074C>A (p.Gly358=)
c.*673C>A (n.*673C>A)
c.765C>A (p.Gly255=)
17g.74919763_74919777delCA8753939USH1Gc.1060_1074del (p.Asp354_Gly358del)
c.*659_*673del (n.*659_*673del)
c.751_765del (p.Asp251_Gly255del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919763C>ACA400961845USH1Gc.1073G>T (p.Gly358Val)
c.*672G>T (n.*672G>T)
c.764G>T (p.Gly255Val)
17g.74919763C=CA2275255250USH1Gc.1073G= (p.Gly358=)
c.*672G= (n.*672G=)
c.764G= (p.Gly255=)
17g.74919763C>GCA400961848USH1Gc.1073G>C (p.Gly358Ala)
c.*672G>C (n.*672G>C)
c.764G>C (p.Gly255Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.74919763C>TCA400961846USH1Gc.1073G>A (p.Gly358Asp)
c.*672G>A (n.*672G>A)
c.764G>A (p.Gly255Asp)
17g.74919764C>ACA400961851USH1Gc.1072G>T (p.Gly358Cys)
c.*671G>T (n.*671G>T)
c.763G>T (p.Gly255Cys)
17g.74919764C>GCA400961852USH1Gc.1072G>C (p.Gly358Arg)
c.*671G>C (n.*671G>C)
c.763G>C (p.Gly255Arg)
17g.74919764C>TCA400961854USH1Gc.1072G>A (p.Gly358Ser)
c.*671G>A (n.*671G>A)
c.763G>A (p.Gly255Ser)
 gnomAD v4
17g.74919772_74919786dupCA2275255251USH1Gc.1058_1072dup (p.Leu357_Gly358insAspAspAspSerLeu)
c.*657_*671dup (n.*657_*671dup)
c.749_763dup (p.Leu254_Gly255insAspAspAspSerLeu)
 dbSNP
17g.74919765C>ACA502036902USH1Gc.1071G>T (p.Leu357=)
c.*670G>T (n.*670G>T)
c.762G>T (p.Leu254=)
17g.74919765C>GCA502036903USH1Gc.1071G>C (p.Leu357=)
c.*670G>C (n.*670G>C)
c.762G>C (p.Leu254=)
17g.74919765C>TCA502036904USH1Gc.1071G>A (p.Leu357=)
c.*670G>A (n.*670G>A)
c.762G>A (p.Leu254=)
17g.74919766A>CCA400961856USH1Gc.1070T>G (p.Leu357Arg)
c.*669T>G (n.*669T>G)
c.761T>G (p.Leu254Arg)
 gnomAD v4
17g.74919766A>GCA400961858USH1Gc.1070T>C (p.Leu357Pro)
c.*669T>C (n.*669T>C)
c.761T>C (p.Leu254Pro)
17g.74919766A>TCA400961859USH1Gc.1070T>A (p.Leu357Gln)
c.*669T>A (n.*669T>A)
c.761T>A (p.Leu254Gln)
17g.74919767G>ACA293983709USH1Gc.1069C>T (p.Leu357=)
c.*668C>T (n.*668C>T)
c.760C>T (p.Leu254=)
 dbSNP
17g.74919767G>CCA400961861USH1Gc.1069C>G (p.Leu357Val)
c.*668C>G (n.*668C>G)
c.760C>G (p.Leu254Val)
17g.74919767G=CA2275255252USH1Gc.1069C= (p.Leu357=)
c.*668C= (n.*668C=)
c.760C= (p.Leu254=)
17g.74919767G>TCA400961862USH1Gc.1069C>A (p.Leu357Met)
c.*668C>A (n.*668C>A)
c.760C>A (p.Leu254Met)
17g.74919768G>ACA502036907USH1Gc.1068C>T (p.Ser356=)
c.*667C>T (n.*667C>T)
c.759C>T (p.Ser253=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919768G>CCA400961864USH1Gc.1068C>G (p.Ser356Arg)
c.*667C>G (n.*667C>G)
c.759C>G (p.Ser253Arg)
17g.74919768G=CA2275255253USH1Gc.1068C= (p.Ser356=)
c.*667C= (n.*667C=)
c.759C= (p.Ser253=)
17g.74919768G>TCA400961866USH1Gc.1068C>A (p.Ser356Arg)
c.*667C>A (n.*667C>A)
c.759C>A (p.Ser253Arg)
17g.74919769C>ACA400961868USH1Gc.1067G>T (p.Ser356Ile)
c.*666G>T (n.*666G>T)
c.758G>T (p.Ser253Ile)
17g.74919769C>GCA400961873USH1Gc.1067G>C (p.Ser356Thr)
c.*666G>C (n.*666G>C)
c.758G>C (p.Ser253Thr)
17g.74919769C>TCA400961870USH1Gc.1067G>A (p.Ser356Asn)
c.*666G>A (n.*666G>A)
c.758G>A (p.Ser253Asn)
 ClinVar gnomAD v4
17g.74919770T>ACA400961874USH1Gc.1066A>T (p.Ser356Cys)
c.*665A>T (n.*665A>T)
c.757A>T (p.Ser253Cys)
17g.74919770T>CCA293983714USH1Gc.1066A>G (p.Ser356Gly)
c.*665A>G (n.*665A>G)
c.757A>G (p.Ser253Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919770T>GCA400961877USH1Gc.1066A>C (p.Ser356Arg)
c.*665A>C (n.*665A>C)
c.757A>C (p.Ser253Arg)
17g.74919770T=CA2275255254USH1Gc.1066A= (p.Ser356=)
c.*665A= (n.*665A=)
c.757A= (p.Ser253=)
17g.74919771G>ACA502036913USH1Gc.1065C>T (p.Asp355=)
c.*664C>T (n.*664C>T)
c.756C>T (p.Asp252=)
17g.74919771G>CCA400961879USH1Gc.1065C>G (p.Asp355Glu)
c.*664C>G (n.*664C>G)
c.756C>G (p.Asp252Glu)
17g.74919771G>TCA400961881USH1Gc.1065C>A (p.Asp355Glu)
c.*664C>A (n.*664C>A)
c.756C>A (p.Asp252Glu)
17g.74919772T>ACA400961883USH1Gc.1064A>T (p.Asp355Val)
c.*663A>T (n.*663A>T)
c.755A>T (p.Asp252Val)
17g.74919772T>CCA400961884USH1Gc.1064A>G (p.Asp355Gly)
c.*663A>G (n.*663A>G)
c.755A>G (p.Asp252Gly)
17g.74919772T>GCA400961885USH1Gc.1064A>C (p.Asp355Ala)
c.*663A>C (n.*663A>C)
c.755A>C (p.Asp252Ala)
17g.74919773C>ACA8753940USH1Gc.1063G>T (p.Asp355Tyr)
c.*662G>T (n.*662G>T)
c.754G>T (p.Asp252Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919773C=CA2275255255USH1Gc.1063G= (p.Asp355=)
c.*662G= (n.*662G=)
c.754G= (p.Asp252=)
17g.74919773C>GCA400961887USH1Gc.1063G>C (p.Asp355His)
c.*662G>C (n.*662G>C)
c.754G>C (p.Asp252His)
17g.74919773C>TCA400961889USH1Gc.1063G>A (p.Asp355Asn)
c.*662G>A (n.*662G>A)
c.754G>A (p.Asp252Asn)
17g.74919774A>CCA400961891USH1Gc.1062T>G (p.Asp354Glu)
c.*661T>G (n.*661T>G)
c.753T>G (p.Asp251Glu)
17g.74919774A>GCA502036410USH1Gc.1062T>C (p.Asp354=)
c.*661T>C (n.*661T>C)
c.753T>C (p.Asp251=)
17g.74919774A>TCA400961893USH1Gc.1062T>A (p.Asp354Glu)
c.*661T>A (n.*661T>A)
c.753T>A (p.Asp251Glu)
17g.74919775T>ACA400961895USH1Gc.1061A>T (p.Asp354Val)
c.*660A>T (n.*660A>T)
c.752A>T (p.Asp251Val)
17g.74919775T>CCA400961899USH1Gc.1061A>G (p.Asp354Gly)
c.*660A>G (n.*660A>G)
c.752A>G (p.Asp251Gly)
17g.74919775T>GCA400961897USH1Gc.1061A>C (p.Asp354Ala)
c.*660A>C (n.*660A>C)
c.752A>C (p.Asp251Ala)
17g.74919776C>ACA400961901USH1Gc.1060G>T (p.Asp354Tyr)
c.*659G>T (n.*659G>T)
c.751G>T (p.Asp251Tyr)
 ClinVar dbSNP
17g.74919776C=CA2275255256USH1Gc.1060G= (p.Asp354=)
c.*659G= (n.*659G=)
c.751G= (p.Asp251=)
17g.74919776C>GCA400961902USH1Gc.1060G>C (p.Asp354His)
c.*659G>C (n.*659G>C)
c.751G>C (p.Asp251His)
 dbSNP gnomAD v2 gnomAD v4
17g.74919776C>TCA400961903USH1Gc.1060G>A (p.Asp354Asn)
c.*659G>A (n.*659G>A)
c.751G>A (p.Asp251Asn)
 dbSNP COSMIC
17g.74919777G>ACA502036414USH1Gc.1059C>T (p.Asp353=)
c.*658C>T (n.*658C>T)
c.750C>T (p.Asp250=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919777G>CCA400961906USH1Gc.1059C>G (p.Asp353Glu)
c.*658C>G (n.*658C>G)
c.750C>G (p.Asp250Glu)
17g.74919777G=CA2275255257USH1Gc.1059C= (p.Asp353=)
c.*658C= (n.*658C=)
c.750C= (p.Asp250=)
17g.74919777G>TCA400961908USH1Gc.1059C>A (p.Asp353Glu)
c.*658C>A (n.*658C>A)
c.750C>A (p.Asp250Glu)
17g.74919778T>ACA400961909USH1Gc.1058A>T (p.Asp353Val)
c.*657A>T (n.*657A>T)
c.749A>T (p.Asp250Val)
17g.74919778T>CCA400961911USH1Gc.1058A>G (p.Asp353Gly)
c.*657A>G (n.*657A>G)
c.749A>G (p.Asp250Gly)
 gnomAD v4
17g.74919778T>GCA400961913USH1Gc.1058A>C (p.Asp353Ala)
c.*657A>C (n.*657A>C)
c.749A>C (p.Asp250Ala)
17g.74919779C>ACA400961916USH1Gc.1057G>T (p.Asp353Tyr)
c.*656G>T (n.*656G>T)
c.748G>T (p.Asp250Tyr)
17g.74919779C=CA2275255258USH1Gc.1057G= (p.Asp353=)
c.*656G= (n.*656G=)
c.748G= (p.Asp250=)
17g.74919779C>GCA400961917USH1Gc.1057G>C (p.Asp353His)
c.*656G>C (n.*656G>C)
c.748G>C (p.Asp250His)
17g.74919779C>TCA8753941USH1Gc.1057G>A (p.Asp353Asn)
c.*656G>A (n.*656G>A)
c.748G>A (p.Asp250Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919780C>ACA502036419USH1Gc.1056G>T (p.Leu352=)
c.*655G>T (n.*655G>T)
c.747G>T (p.Leu249=)
17g.74919780C>GCA502036421USH1Gc.1056G>C (p.Leu352=)
c.*655G>C (n.*655G>C)
c.747G>C (p.Leu249=)
17g.74919780C>TCA502036422USH1Gc.1056G>A (p.Leu352=)
c.*655G>A (n.*655G>A)
c.747G>A (p.Leu249=)
17g.74919781A=CA2275255259USH1Gc.1055T= (p.Leu352=)
c.*654T= (n.*654T=)
c.746T= (p.Leu249=)
17g.74919781A>CCA400961922USH1Gc.1055T>G (p.Leu352Arg)
c.*654T>G (n.*654T>G)
c.746T>G (p.Leu249Arg)
17g.74919781A>GCA400961924USH1Gc.1055T>C (p.Leu352Pro)
c.*654T>C (n.*654T>C)
c.746T>C (p.Leu249Pro)
 dbSNP
17g.74919781A>TCA400961921USH1Gc.1055T>A (p.Leu352Gln)
c.*654T>A (n.*654T>A)
c.746T>A (p.Leu249Gln)
17g.74919782G>ACA502036424USH1Gc.1054C>T (p.Leu352=)
c.*653C>T (n.*653C>T)
c.745C>T (p.Leu249=)
 ClinVar gnomAD v4
17g.74919782G>CCA400961927USH1Gc.1054C>G (p.Leu352Val)
c.*653C>G (n.*653C>G)
c.745C>G (p.Leu249Val)
17g.74919782G=CA2275255260USH1Gc.1054C= (p.Leu352=)
c.*653C= (n.*653C=)
c.745C= (p.Leu249=)
17g.74919782G>TCA293983723USH1Gc.1054C>A (p.Leu352Met)
c.*653C>A (n.*653C>A)
c.745C>A (p.Leu249Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919783G>ACA502036425USH1Gc.1053C>T (p.Ser351=)
c.*652C>T (n.*652C>T)
c.744C>T (p.Ser248=)
17g.74919783G>CCA400961929USH1Gc.1053C>G (p.Ser351Arg)
c.*652C>G (n.*652C>G)
c.744C>G (p.Ser248Arg)
17g.74919783G>TCA400961930USH1Gc.1053C>A (p.Ser351Arg)
c.*652C>A (n.*652C>A)
c.744C>A (p.Ser248Arg)
17g.74919783_74919801delCA2639747184USH1Gc.1035_1053del (p.Leu346TrpfsTer28)
c.*634_*652del (n.*634_*652del)
c.726_744del (p.Leu243TrpfsTer28)
 gnomAD v4
17g.74919784C>ACA400961932USH1Gc.1052G>T (p.Ser351Ile)
c.*651G>T (n.*651G>T)
c.743G>T (p.Ser248Ile)
17g.74919784C=CA2275255261USH1Gc.1052G= (p.Ser351=)
c.*651G= (n.*651G=)
c.743G= (p.Ser248=)
17g.74919784C>GCA400961934USH1Gc.1052G>C (p.Ser351Thr)
c.*651G>C (n.*651G>C)
c.743G>C (p.Ser248Thr)
17g.74919784C>TCA400961936USH1Gc.1052G>A (p.Ser351Asn)
c.*651G>A (n.*651G>A)
c.743G>A (p.Ser248Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.74919785T>ACA400961937USH1Gc.1051A>T (p.Ser351Cys)
c.*650A>T (n.*650A>T)
c.742A>T (p.Ser248Cys)
17g.74919785T>CCA400961939USH1Gc.1051A>G (p.Ser351Gly)
c.*650A>G (n.*650A>G)
c.742A>G (p.Ser248Gly)
17g.74919785T>GCA400961941USH1Gc.1051A>C (p.Ser351Arg)
c.*650A>C (n.*650A>C)
c.742A>C (p.Ser248Arg)
17g.74919786G>ACA502036431USH1Gc.1050C>T (p.Pro350=)
c.*649C>T (n.*649C>T)
c.741C>T (p.Pro247=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919786G>CCA502036432USH1Gc.1050C>G (p.Pro350=)
c.*649C>G (n.*649C>G)
c.741C>G (p.Pro247=)
17g.74919786G=CA2275255262USH1Gc.1050C= (p.Pro350=)
c.*649C= (n.*649C=)
c.741C= (p.Pro247=)
17g.74919786G>TCA502036433USH1Gc.1050C>A (p.Pro350=)
c.*649C>A (n.*649C>A)
c.741C>A (p.Pro247=)
 dbSNP
17g.74919787G>ACA400961943USH1Gc.1049C>T (p.Pro350Leu)
c.*648C>T (n.*648C>T)
c.740C>T (p.Pro247Leu)
17g.74919787G>CCA293983728USH1Gc.1049C>G (p.Pro350Arg)
c.*648C>G (n.*648C>G)
c.740C>G (p.Pro247Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.74919787G=CA2275255263USH1Gc.1049C= (p.Pro350=)
c.*648C= (n.*648C=)
c.740C= (p.Pro247=)
17g.74919787G>TCA400961946USH1Gc.1049C>A (p.Pro350His)
c.*648C>A (n.*648C>A)
c.740C>A (p.Pro247His)
17g.74919788G>ACA8753942USH1Gc.1048C>T (p.Pro350Ser)
c.*647C>T (n.*647C>T)
c.739C>T (p.Pro247Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919788G>CCA400961951USH1Gc.1048C>G (p.Pro350Ala)
c.*647C>G (n.*647C>G)
c.739C>G (p.Pro247Ala)
 gnomAD v4
17g.74919788G=CA2275255264USH1Gc.1048C= (p.Pro350=)
c.*647C= (n.*647C=)
c.739C= (p.Pro247=)
17g.74919788G>TCA400961948USH1Gc.1048C>A (p.Pro350Thr)
c.*647C>A (n.*647C>A)
c.739C>A (p.Pro247Thr)
17g.74919789G>ACA502036435USH1Gc.1047C>T (p.Ser349=)
c.*646C>T (n.*646C>T)
c.738C>T (p.Ser246=)
17g.74919789G>CCA502036437USH1Gc.1047C>G (p.Ser349=)
c.*646C>G (n.*646C>G)
c.738C>G (p.Ser246=)
17g.74919789G>TCA502036436USH1Gc.1047C>A (p.Ser349=)
c.*646C>A (n.*646C>A)
c.738C>A (p.Ser246=)
17g.74919790G>ACA8753943USH1Gc.1046C>T (p.Ser349Phe)
c.*645C>T (n.*645C>T)
c.737C>T (p.Ser246Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919790G>CCA400961954USH1Gc.1046C>G (p.Ser349Cys)
c.*645C>G (n.*645C>G)
c.737C>G (p.Ser246Cys)
17g.74919790G=CA2275255265USH1Gc.1046C= (p.Ser349=)
c.*645C= (n.*645C=)
c.737C= (p.Ser246=)
17g.74919790G>TCA400961956USH1Gc.1046C>A (p.Ser349Tyr)
c.*645C>A (n.*645C>A)
c.737C>A (p.Ser246Tyr)
17g.74919791A>CCA400961958USH1Gc.1045T>G (p.Ser349Ala)
c.*644T>G (n.*644T>G)
c.736T>G (p.Ser246Ala)
17g.74919791A>GCA400961960USH1Gc.1045T>C (p.Ser349Pro)
c.*644T>C (n.*644T>C)
c.736T>C (p.Ser246Pro)
17g.74919791A>TCA400961961USH1Gc.1045T>A (p.Ser349Thr)
c.*644T>A (n.*644T>A)
c.736T>A (p.Ser246Thr)
17g.74919792G>ACA502036444USH1Gc.1044C>T (p.Ser348=)
c.*643C>T (n.*643C>T)
c.735C>T (p.Ser245=)
17g.74919792G>CCA293983743USH1Gc.1044C>G (p.Ser348Arg)
c.*643C>G (n.*643C>G)
c.735C>G (p.Ser245Arg)
 dbSNP
17g.74919792G=CA2275255266USH1Gc.1044C= (p.Ser348=)
c.*643C= (n.*643C=)
c.735C= (p.Ser245=)
17g.74919792G>TCA400961964USH1Gc.1044C>A (p.Ser348Arg)
c.*643C>A (n.*643C>A)
c.735C>A (p.Ser245Arg)
17g.74919793C>ACA400961966USH1Gc.1043G>T (p.Ser348Ile)
c.*642G>T (n.*642G>T)
c.734G>T (p.Ser245Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.74919793C=CA2275255267USH1Gc.1043G= (p.Ser348=)
c.*642G= (n.*642G=)
c.734G= (p.Ser245=)
17g.74919793C>GCA400961968USH1Gc.1043G>C (p.Ser348Thr)
c.*642G>C (n.*642G>C)
c.734G>C (p.Ser245Thr)
17g.74919793C>TCA400961970USH1Gc.1043G>A (p.Ser348Asn)
c.*642G>A (n.*642G>A)
c.734G>A (p.Ser245Asn)
17g.74919794T>ACA400961972USH1Gc.1042A>T (p.Ser348Cys)
c.*641A>T (n.*641A>T)
c.733A>T (p.Ser245Cys)
17g.74919794T>CCA400961974USH1Gc.1042A>G (p.Ser348Gly)
c.*641A>G (n.*641A>G)
c.733A>G (p.Ser245Gly)
17g.74919794T>GCA400961976USH1Gc.1042A>C (p.Ser348Arg)
c.*641A>C (n.*641A>C)
c.733A>C (p.Ser245Arg)
17g.74919795C>ACA400961978USH1Gc.1041G>T (p.Gln347His)
c.*640G>T (n.*640G>T)
c.732G>T (p.Gln244His)
17g.74919795C>GCA400961980USH1Gc.1041G>C (p.Gln347His)
c.*640G>C (n.*640G>C)
c.732G>C (p.Gln244His)
17g.74919795C>TCA502036449USH1Gc.1041G>A (p.Gln347=)
c.*640G>A (n.*640G>A)
c.732G>A (p.Gln244=)
17g.74919796T>ACA400961982USH1Gc.1040A>T (p.Gln347Leu)
c.*639A>T (n.*639A>T)
c.731A>T (p.Gln244Leu)
17g.74919796T>CCA400961983USH1Gc.1040A>G (p.Gln347Arg)
c.*639A>G (n.*639A>G)
c.731A>G (p.Gln244Arg)
17g.74919796T>GCA400961985USH1Gc.1040A>C (p.Gln347Pro)
c.*639A>C (n.*639A>C)
c.731A>C (p.Gln244Pro)
17g.74919797G>ACA8753944USH1Gc.1039C>T (p.Gln347Ter)
c.*638C>T (n.*638C>T)
c.730C>T (p.Gln244Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919797G>CCA400961988USH1Gc.1039C>G (p.Gln347Glu)
c.*638C>G (n.*638C>G)
c.730C>G (p.Gln244Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.74919797G=CA2275255268USH1Gc.1039C= (p.Gln347=)
c.*638C= (n.*638C=)
c.730C= (p.Gln244=)
17g.74919797G>TCA400961989USH1Gc.1039C>A (p.Gln347Lys)
c.*638C>A (n.*638C>A)
c.730C>A (p.Gln244Lys)
17g.74919798C>ACA502036456USH1Gc.1038G>T (p.Leu346=)
c.*637G>T (n.*637G>T)
c.729G>T (p.Leu243=)
17g.74919798C>GCA502036452USH1Gc.1038G>C (p.Leu346=)
c.*637G>C (n.*637G>C)
c.729G>C (p.Leu243=)
17g.74919798C>TCA502036453USH1Gc.1038G>A (p.Leu346=)
c.*637G>A (n.*637G>A)
c.729G>A (p.Leu243=)
 gnomAD v4
17g.74919799A>CCA400961991USH1Gc.1037T>G (p.Leu346Arg)
c.*636T>G (n.*636T>G)
c.728T>G (p.Leu243Arg)
17g.74919799A>GCA400961993USH1Gc.1037T>C (p.Leu346Pro)
c.*636T>C (n.*636T>C)
c.728T>C (p.Leu243Pro)
17g.74919799A>TCA400961995USH1Gc.1037T>A (p.Leu346Gln)
c.*636T>A (n.*636T>A)
c.728T>A (p.Leu243Gln)
17g.74919800G>ACA502036458USH1Gc.1036C>T (p.Leu346=)
c.*635C>T (n.*635C>T)
c.727C>T (p.Leu243=)
17g.74919800G>CCA400961997USH1Gc.1036C>G (p.Leu346Val)
c.*635C>G (n.*635C>G)
c.727C>G (p.Leu243Val)
17g.74919800G>TCA400961999USH1Gc.1036C>A (p.Leu346Met)
c.*635C>A (n.*635C>A)
c.727C>A (p.Leu243Met)
17g.74919801C>ACA502036462USH1Gc.1035G>T (p.Arg345=)
c.*634G>T (n.*634G>T)
c.726G>T (p.Arg242=)
17g.74919801C=CA2275255269USH1Gc.1035G= (p.Arg345=)
c.*634G= (n.*634G=)
c.726G= (p.Arg242=)
17g.74919801C>GCA502036463USH1Gc.1035G>C (p.Arg345=)
c.*634G>C (n.*634G>C)
c.726G>C (p.Arg242=)
17g.74919801C>TCA502036464USH1Gc.1035G>A (p.Arg345=)
c.*634G>A (n.*634G>A)
c.726G>A (p.Arg242=)
 dbSNP
17g.74919802C>ACA400962001USH1Gc.1034G>T (p.Arg345Leu)
c.*633G>T (n.*633G>T)
c.725G>T (p.Arg242Leu)
 gnomAD v4
17g.74919802C>GCA400962002USH1Gc.1034G>C (p.Arg345Pro)
c.*633G>C (n.*633G>C)
c.725G>C (p.Arg242Pro)
17g.74919802C>TCA400962004USH1Gc.1034G>A (p.Arg345Gln)
c.*633G>A (n.*633G>A)
c.725G>A (p.Arg242Gln)
 gnomAD v4
17g.74919803G>ACA8753945USH1Gc.1033C>T (p.Arg345Trp)
c.*632C>T (n.*632C>T)
c.724C>T (p.Arg242Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919803G>CCA400962007USH1Gc.1033C>G (p.Arg345Gly)
c.*632C>G (n.*632C>G)
c.724C>G (p.Arg242Gly)
17g.74919803G=CA2275255270USH1Gc.1033C= (p.Arg345=)
c.*632C= (n.*632C=)
c.724C= (p.Arg242=)
17g.74919803G>TCA502036466USH1Gc.1033C>A (p.Arg345=)
c.*632C>A (n.*632C>A)
c.724C>A (p.Arg242=)
17g.74919804A>CCA502036469USH1Gc.1032T>G (p.Gly344=)
c.*631T>G (n.*631T>G)
c.723T>G (p.Gly241=)
17g.74919804A>GCA502036470USH1Gc.1032T>C (p.Gly344=)
c.*631T>C (n.*631T>C)
c.723T>C (p.Gly241=)
 gnomAD v4
17g.74919804A>TCA502036471USH1Gc.1032T>A (p.Gly344=)
c.*631T>A (n.*631T>A)
c.723T>A (p.Gly241=)
17g.74919805C>ACA400962011USH1Gc.1031G>T (p.Gly344Val)
c.*630G>T (n.*630G>T)
c.722G>T (p.Gly241Val)
 gnomAD v4
17g.74919805C=CA2275255271USH1Gc.1031G= (p.Gly344=)
c.*630G= (n.*630G=)
c.722G= (p.Gly241=)
17g.74919805C>GCA400962012USH1Gc.1031G>C (p.Gly344Ala)
c.*630G>C (n.*630G>C)
c.722G>C (p.Gly241Ala)
17g.74919805C>TCA400962013USH1Gc.1031G>A (p.Gly344Asp)
c.*630G>A (n.*630G>A)
c.722G>A (p.Gly241Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.74919806C>ACA400962014USH1Gc.1030G>T (p.Gly344Cys)
c.*629G>T (n.*629G>T)
c.721G>T (p.Gly241Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919806C=CA2275255272USH1Gc.1030G= (p.Gly344=)
c.*629G= (n.*629G=)
c.721G= (p.Gly241=)
17g.74919806C>GCA400962015USH1Gc.1030G>C (p.Gly344Arg)
c.*629G>C (n.*629G>C)
c.721G>C (p.Gly241Arg)
 gnomAD v4
17g.74919806C>TCA400962016USH1Gc.1030G>A (p.Gly344Ser)
c.*629G>A (n.*629G>A)
c.721G>A (p.Gly241Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.74919807C>ACA502036474USH1Gc.1029G>T (p.Arg343=)
c.*628G>T (n.*628G>T)
c.720G>T (p.Arg240=)
17g.74919807C>GCA502036475USH1Gc.1029G>C (p.Arg343=)
c.*628G>C (n.*628G>C)
c.720G>C (p.Arg240=)
17g.74919807C>TCA502036477USH1Gc.1029G>A (p.Arg343=)
c.*628G>A (n.*628G>A)
c.720G>A (p.Arg240=)
17g.74919808_74919810delCA2639747219USH1Gc.1027_1029del (p.Arg343del)
c.*626_*628del (n.*626_*628del)
c.718_720del (p.Arg240del)
 gnomAD v4
17g.74919808C>ACA400962017USH1Gc.1028G>T (p.Arg343Leu)
c.*627G>T (n.*627G>T)
c.719G>T (p.Arg240Leu)
17g.74919808C>GCA400962018USH1Gc.1028G>C (p.Arg343Pro)
c.*627G>C (n.*627G>C)
c.719G>C (p.Arg240Pro)
17g.74919808C>TCA400962019USH1Gc.1028G>A (p.Arg343Gln)
c.*627G>A (n.*627G>A)
c.719G>A (p.Arg240Gln)
17g.74919809G>ACA400962020USH1Gc.1027C>T (p.Arg343Trp)
c.*626C>T (n.*626C>T)
c.718C>T (p.Arg240Trp)
 gnomAD v4 COSMIC
17g.74919809G>CCA400962021USH1Gc.1027C>G (p.Arg343Gly)
c.*626C>G (n.*626C>G)
c.718C>G (p.Arg240Gly)
17g.74919809G>TCA502036481USH1Gc.1027C>A (p.Arg343=)
c.*626C>A (n.*626C>A)
c.718C>A (p.Arg240=)
17g.74919810C>ACA502036482USH1Gc.1026G>T (p.Pro342=)
c.*625G>T (n.*625G>T)
c.717G>T (p.Pro239=)
17g.74919810C=CA2275255273USH1Gc.1026G= (p.Pro342=)
c.*625G= (n.*625G=)
c.717G= (p.Pro239=)
17g.74919810C>GCA502036483USH1Gc.1026G>C (p.Pro342=)
c.*625G>C (n.*625G>C)
c.717G>C (p.Pro239=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919810C>TCA502036484USH1Gc.1026G>A (p.Pro342=)
c.*625G>A (n.*625G>A)
c.717G>A (p.Pro239=)
 COSMIC
17g.74919811G>ACA400962022USH1Gc.1025C>T (p.Pro342Leu)
c.*624C>T (n.*624C>T)
c.716C>T (p.Pro239Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919811G>CCA8753946USH1Gc.1025C>G (p.Pro342Arg)
c.*624C>G (n.*624C>G)
c.716C>G (p.Pro239Arg)
 dbSNP ExAC gnomAD v2
17g.74919811G=CA2275255274USH1Gc.1025C= (p.Pro342=)
c.*624C= (n.*624C=)
c.716C= (p.Pro239=)
17g.74919811G>TCA400962023USH1Gc.1025C>A (p.Pro342Gln)
c.*624C>A (n.*624C>A)
c.716C>A (p.Pro239Gln)
17g.74919812G>ACA8753947USH1Gc.1024C>T (p.Pro342Ser)
c.*623C>T (n.*623C>T)
c.715C>T (p.Pro239Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919812G>CCA400962025USH1Gc.1024C>G (p.Pro342Ala)
c.*623C>G (n.*623C>G)
c.715C>G (p.Pro239Ala)
17g.74919812G=CA2275255275USH1Gc.1024C= (p.Pro342=)
c.*623C= (n.*623C=)
c.715C= (p.Pro239=)
17g.74919812G>TCA400962024USH1Gc.1024C>A (p.Pro342Thr)
c.*623C>A (n.*623C>A)
c.715C>A (p.Pro239Thr)
17g.74919813C>ACA502036488USH1Gc.1023G>T (p.Ala341=)
c.*622G>T (n.*622G>T)
c.714G>T (p.Ala238=)
 gnomAD v4 COSMIC
17g.74919813C=CA2275255276USH1Gc.1023G= (p.Ala341=)
c.*622G= (n.*622G=)
c.714G= (p.Ala238=)
17g.74919813C>GCA502036489USH1Gc.1023G>C (p.Ala341=)
c.*622G>C (n.*622G>C)
c.714G>C (p.Ala238=)
17g.74919813C>TCA502036490USH1Gc.1023G>A (p.Ala341=)
c.*622G>A (n.*622G>A)
c.714G>A (p.Ala238=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919814G>ACA8753948USH1Gc.1022C>T (p.Ala341Val)
c.*621C>T (n.*621C>T)
c.713C>T (p.Ala238Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919814G>CCA400962027USH1Gc.1022C>G (p.Ala341Gly)
c.*621C>G (n.*621C>G)
c.713C>G (p.Ala238Gly)
17g.74919814G=CA2275255277USH1Gc.1022C= (p.Ala341=)
c.*621C= (n.*621C=)
c.713C= (p.Ala238=)
17g.74919814G>TCA400962026USH1Gc.1022C>A (p.Ala341Glu)
c.*621C>A (n.*621C>A)
c.713C>A (p.Ala238Glu)
 ClinVar dbSNP
17g.74919815C>ACA400962028USH1Gc.1021G>T (p.Ala341Ser)
c.*620G>T (n.*620G>T)
c.712G>T (p.Ala238Ser)
17g.74919815C=CA2275255278USH1Gc.1021G= (p.Ala341=)
c.*620G= (n.*620G=)
c.712G= (p.Ala238=)
17g.74919815C>GCA400962029USH1Gc.1021G>C (p.Ala341Pro)
c.*620G>C (n.*620G>C)
c.712G>C (p.Ala238Pro)
17g.74919815C>TCA8753949USH1Gc.1021G>A (p.Ala341Thr)
c.*620G>A (n.*620G>A)
c.712G>A (p.Ala238Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919815_74919816insGGCCCA2018007680USH1Gc.1021_1022insGCCG (p.Ala341GlyfsTer16)
c.*620_*621insGCCG (n.*620_*621insGCCG)
c.712_713insGCCG (p.Ala238GlyfsTer16)
17g.74919815_74919816insGGCCCCCA1139769894USH1Gc.1021_1022insGGGCCG (p.Gly340_Ala341insGlyAla)
c.*620_*621insGGGCCG (n.*620_*621insGGGCCG)
c.712_713insGGGCCG (p.Gly237_Ala238insGlyAla)
 dbSNP
17g.74919815_74919816insGGCCCCCCA1139532984USH1Gc.1021_1022insGGGGCCG (p.Ala341GlyfsTer17)
c.*620_*621insGGGGCCG (n.*620_*621insGGGGCCG)
c.712_713insGGGGCCG (p.Ala238GlyfsTer17)
17g.74919815_74919816insGGCCCCCCCCCCCCCCCCCCCCA1139532957USH1Gc.1021_1022insGGGGGGGGGGGGGGGGGGCCG (p.Gly340_Ala341insGlyGlyGlyGlyGlyGlyAla)
c.*620_*621insGGGGGGGGGGGGGGGGGGCCG (n.*620_*621insGGGGGGGGGGGGGGGGGGCCG)
c.712_713insGGGGGGGGGGGGGGGGGGCCG (p.Gly237_Ala238insGlyGlyGlyGlyGlyGlyAla)
17g.74919815_74919816insGCA1139769799USH1Gc.1020_1021insC (p.Ala341ArgfsTer15)
c.*619_*620insC (n.*619_*620insC)
c.711_712insC (p.Ala238ArgfsTer15)
 dbSNP
17g.74919816T>ACA502036494USH1Gc.1020A>T (p.Gly340=)
c.*619A>T (n.*619A>T)
c.711A>T (p.Gly237=)
17g.74919816T>CCA502036495USH1Gc.1020A>G (p.Gly340=)
c.*619A>G (n.*619A>G)
c.711A>G (p.Gly237=)
 dbSNP
17g.74919816T>GCA502036496USH1Gc.1020A>C (p.Gly340=)
c.*619A>C (n.*619A>C)
c.711A>C (p.Gly237=)
 dbSNP
17g.74919816_74919817insGCA1139655035USH1Gc.1019_1020insC (p.Ala341SerfsTer15)
c.*618_*619insC (n.*618_*619insC)
c.710_711insC (p.Ala238SerfsTer15)
 dbSNP
17g.74919816_74919817insGCCCCCCA2573331842USH1Gc.1019_1020insGGGGGC (p.Gly340_Ala341insGlyAla)
c.*618_*619insGGGGGC (n.*618_*619insGGGGGC)
c.710_711insGGGGGC (p.Gly237_Ala238insGlyAla)
 dbSNP
17g.74919817C>ACA400962030USH1Gc.1019G>T (p.Gly340Val)
c.*618G>T (n.*618G>T)
c.710G>T (p.Gly237Val)
17g.74919817C=CA2275255279USH1Gc.1019G= (p.Gly340=)
c.*618G= (n.*618G=)
c.710G= (p.Gly237=)
17g.74919817C>GCA400962031USH1Gc.1019G>C (p.Gly340Ala)
c.*618G>C (n.*618G>C)
c.710G>C (p.Gly237Ala)
 dbSNP
17g.74919817C>TCA8753950USH1Gc.1019G>A (p.Gly340Glu)
c.*618G>A (n.*618G>A)
c.710G>A (p.Gly237Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919819dupCA1139769937USH1Gc.1019dup (p.Ala341SerfsTer15)
c.*618dup (n.*618dup)
c.710dup (p.Ala238SerfsTer15)
 dbSNP
17g.74919819delCA2639747249USH1Gc.1019del (p.Gly340GlufsTer?)
c.*618del (n.*618del)
c.710del (p.Gly237GlufsTer?)
 gnomAD v4
17g.74919818C>ACA400962032USH1Gc.1018G>T (p.Gly340Ter)
c.*617G>T (n.*617G>T)
c.709G>T (p.Gly237Ter)
17g.74919818C>GCA400962033USH1Gc.1018G>C (p.Gly340Arg)
c.*617G>C (n.*617G>C)
c.709G>C (p.Gly237Arg)
17g.74919818C>TCA400962034USH1Gc.1018G>A (p.Gly340Arg)
c.*617G>A (n.*617G>A)
c.709G>A (p.Gly237Arg)
17g.74919819C>ACA502036500USH1Gc.1017G>T (p.Val339=)
c.*616G>T (n.*616G>T)
c.708G>T (p.Val236=)
17g.74919819C>GCA502036498USH1Gc.1017G>C (p.Val339=)
c.*616G>C (n.*616G>C)
c.708G>C (p.Val236=)
17g.74919819C>TCA502036499USH1Gc.1017G>A (p.Val339=)
c.*616G>A (n.*616G>A)
c.708G>A (p.Val236=)
 gnomAD v4
17g.74919820delCA923726283USH1Gc.1016del (p.Val339GlyfsTer?)
c.*615del (n.*615del)
c.707del (p.Val236GlyfsTer?)
17g.74919820A=CA2275255280USH1Gc.1016T= (p.Val339=)
c.*615T= (n.*615T=)
c.707T= (p.Val236=)
17g.74919820A>CCA400962035USH1Gc.1016T>G (p.Val339Gly)
c.*615T>G (n.*615T>G)
c.707T>G (p.Val236Gly)
 dbSNP
17g.74919820A>GCA400962036USH1Gc.1016T>C (p.Val339Ala)
c.*615T>C (n.*615T>C)
c.707T>C (p.Val236Ala)
17g.74919820A>TCA400962037USH1Gc.1016T>A (p.Val339Glu)
c.*615T>A (n.*615T>A)
c.707T>A (p.Val236Glu)
17g.74919820dupCA2499224916USH1Gc.1016dup (p.Ala341SerfsTer15)
c.*615dup (n.*615dup)
c.707dup (p.Ala238SerfsTer15)
 ClinVar dbSNP
17g.74919821C>ACA400962038USH1Gc.1015G>T (p.Val339Leu)
c.*614G>T (n.*614G>T)
c.706G>T (p.Val236Leu)
17g.74919821C=CA2275255281USH1Gc.1015G= (p.Val339=)
c.*614G= (n.*614G=)
c.706G= (p.Val236=)
17g.74919821C>GCA400962039USH1Gc.1015G>C (p.Val339Leu)
c.*614G>C (n.*614G>C)
c.706G>C (p.Val236Leu)
17g.74919821C>TCA8753951USH1Gc.1015G>A (p.Val339Met)
c.*614G>A (n.*614G>A)
c.706G>A (p.Val236Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919824dupCA2734173533USH1Gc.1015dup (p.Val339GlyfsTer17)
c.*614dup (n.*614dup)
c.706dup (p.Val236GlyfsTer17)
 dbSNP
17g.74919822C>ACA502036506USH1Gc.1014G>T (p.Gly338=)
c.*613G>T (n.*613G>T)
c.705G>T (p.Gly235=)
17g.74919822C>GCA502036507USH1Gc.1014G>C (p.Gly338=)
c.*613G>C (n.*613G>C)
c.705G>C (p.Gly235=)
 gnomAD v4
17g.74919822C>TCA502036508USH1Gc.1014G>A (p.Gly338=)
c.*613G>A (n.*613G>A)
c.705G>A (p.Gly235=)
 gnomAD v4
17g.74919823C>ACA400962045USH1Gc.1013G>T (p.Gly338Val)
c.*612G>T (n.*612G>T)
c.704G>T (p.Gly235Val)
17g.74919823C>GCA400962043USH1Gc.1013G>C (p.Gly338Ala)
c.*612G>C (n.*612G>C)
c.704G>C (p.Gly235Ala)
17g.74919823C>TCA400962041USH1Gc.1013G>A (p.Gly338Glu)
c.*612G>A (n.*612G>A)
c.704G>A (p.Gly235Glu)
17g.74919823_74919824delinsTTCA645598977USH1Gc.1012_1013delinsAA (p.Gly338Lys)
c.*611_*612delinsAA (n.*611_*612delinsAA)
c.703_704delinsAA (p.Gly235Lys)
 COSMIC
17g.74919824C>ACA400962046USH1Gc.1012G>T (p.Gly338Trp)
c.*611G>T (n.*611G>T)
c.703G>T (p.Gly235Trp)
17g.74919824C=CA2275255282USH1Gc.1012G= (p.Gly338=)
c.*611G= (n.*611G=)
c.703G= (p.Gly235=)
17g.74919824C>GCA400962048USH1Gc.1012G>C (p.Gly338Arg)
c.*611G>C (n.*611G>C)
c.703G>C (p.Gly235Arg)
17g.74919824C>TCA182578USH1Gc.1012G>A (p.Gly338Arg)
c.*611G>A (n.*611G>A)
c.703G>A (p.Gly235Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919825A=CA2275255283USH1Gc.1011T= (p.Asp337=)
c.*610T= (n.*610T=)
c.702T= (p.Asp234=)
17g.74919825A>CCA400962051USH1Gc.1011T>G (p.Asp337Glu)
c.*610T>G (n.*610T>G)
c.702T>G (p.Asp234Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.74919825A>GCA502036513USH1Gc.1011T>C (p.Asp337=)
c.*610T>C (n.*610T>C)
c.702T>C (p.Asp234=)
 dbSNP
17g.74919825A>TCA400962052USH1Gc.1011T>A (p.Asp337Glu)
c.*610T>A (n.*610T>A)
c.702T>A (p.Asp234Glu)
17g.74919825_74919826delCA1139770327USH1Gc.1010_1011del (p.Asp337GlyfsTer18)
c.*609_*610del (n.*609_*610del)
c.701_702del (p.Asp234GlyfsTer18)
 dbSNP
17g.74919826delCA2734173596USH1Gc.1010del (p.Asp337ValfsTer?)
c.*609del (n.*609del)
c.701del (p.Asp234ValfsTer?)
 dbSNP
17g.74919826T>ACA400962055USH1Gc.1010A>T (p.Asp337Val)
c.*609A>T (n.*609A>T)
c.701A>T (p.Asp234Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919826T>CCA400962057USH1Gc.1010A>G (p.Asp337Gly)
c.*609A>G (n.*609A>G)
c.701A>G (p.Asp234Gly)
 dbSNP
17g.74919826T>GCA400962058USH1Gc.1010A>C (p.Asp337Ala)
c.*609A>C (n.*609A>C)
c.701A>C (p.Asp234Ala)
17g.74919827C>ACA400962060USH1Gc.1009G>T (p.Asp337Tyr)
c.*608G>T (n.*608G>T)
c.700G>T (p.Asp234Tyr)
17g.74919827C>GCA400962062USH1Gc.1009G>C (p.Asp337His)
c.*608G>C (n.*608G>C)
c.700G>C (p.Asp234His)
 gnomAD v4
17g.74919827C>TCA400962064USH1Gc.1009G>A (p.Asp337Asn)
c.*608G>A (n.*608G>A)
c.700G>A (p.Asp234Asn)
 COSMIC
17g.74919828C>ACA502036517USH1Gc.1008G>T (p.Leu336=)
c.*607G>T (n.*607G>T)
c.699G>T (p.Leu233=)
17g.74919828C=CA2275255284USH1Gc.1008G= (p.Leu336=)
c.*607G= (n.*607G=)
c.699G= (p.Leu233=)
17g.74919828C>GCA502036518USH1Gc.1008G>C (p.Leu336=)
c.*607G>C (n.*607G>C)
c.699G>C (p.Leu233=)
17g.74919828C>TCA502036519USH1Gc.1008G>A (p.Leu336=)
c.*607G>A (n.*607G>A)
c.699G>A (p.Leu233=)
 dbSNP
17g.74919829A=CA2275255285USH1Gc.1007T= (p.Leu336=)
c.*606T= (n.*606T=)
c.698T= (p.Leu233=)
17g.74919829A>CCA400962066USH1Gc.1007T>G (p.Leu336Arg)
c.*606T>G (n.*606T>G)
c.698T>G (p.Leu233Arg)
 dbSNP
17g.74919829A>GCA400962068USH1Gc.1007T>C (p.Leu336Pro)
c.*606T>C (n.*606T>C)
c.698T>C (p.Leu233Pro)
17g.74919829A>TCA400962065USH1Gc.1007T>A (p.Leu336Gln)
c.*606T>A (n.*606T>A)
c.698T>A (p.Leu233Gln)
17g.74919829_74919831delCA1139770328USH1Gc.1005_1007del (p.Leu336del)
c.*604_*606del (n.*604_*606del)
c.696_698del (p.Leu233del)
17g.74919830G>ACA293983828USH1Gc.1006C>T (p.Leu336=)
c.*605C>T (n.*605C>T)
c.697C>T (p.Leu233=)
 ClinVar dbSNP gnomAD v4
17g.74919830G>CCA400962071USH1Gc.1006C>G (p.Leu336Val)
c.*605C>G (n.*605C>G)
c.697C>G (p.Leu233Val)
17g.74919830G=CA2275255286USH1Gc.1006C= (p.Leu336=)
c.*605C= (n.*605C=)
c.697C= (p.Leu233=)
17g.74919830G>TCA400962072USH1Gc.1006C>A (p.Leu336Met)
c.*605C>A (n.*605C>A)
c.697C>A (p.Leu233Met)
17g.74919831A=CA2275255287USH1Gc.1005T= (p.Gly335=)
c.*604T= (n.*604T=)
c.696T= (p.Gly232=)
17g.74919831A>CCA502036523USH1Gc.1005T>G (p.Gly335=)
c.*604T>G (n.*604T>G)
c.696T>G (p.Gly232=)
 dbSNP
17g.74919831A>GCA502036524USH1Gc.1005T>C (p.Gly335=)
c.*604T>C (n.*604T>C)
c.696T>C (p.Gly232=)
17g.74919831A>TCA502036525USH1Gc.1005T>A (p.Gly335=)
c.*604T>A (n.*604T>A)
c.696T>A (p.Gly232=)
17g.74919832C>ACA400962075USH1Gc.1004G>T (p.Gly335Val)
c.*603G>T (n.*603G>T)
c.695G>T (p.Gly232Val)
17g.74919832C=CA2275255288USH1Gc.1004G= (p.Gly335=)
c.*603G= (n.*603G=)
c.695G= (p.Gly232=)
17g.74919832C>GCA400962076USH1Gc.1004G>C (p.Gly335Ala)
c.*603G>C (n.*603G>C)
c.695G>C (p.Gly232Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919832C>TCA400962078USH1Gc.1004G>A (p.Gly335Asp)
c.*603G>A (n.*603G>A)
c.695G>A (p.Gly232Asp)
 gnomAD v4
17g.74919836dupCA775052994USH1Gc.1004dup (p.Leu336SerfsTer20)
c.*603dup (n.*603dup)
c.695dup (p.Leu233SerfsTer20)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919836delCA2697555153USH1Gc.1004del (p.Gly335ValfsTer?)
c.*603del (n.*603del)
c.695del (p.Gly232ValfsTer?)
 ClinVar
17g.74919833C>ACA400962080USH1Gc.1003G>T (p.Gly335Cys)
c.*602G>T (n.*602G>T)
c.694G>T (p.Gly232Cys)
17g.74919833C>GCA400962082USH1Gc.1003G>C (p.Gly335Arg)
c.*602G>C (n.*602G>C)
c.694G>C (p.Gly232Arg)
17g.74919833C>TCA400962084USH1Gc.1003G>A (p.Gly335Ser)
c.*602G>A (n.*602G>A)
c.694G>A (p.Gly232Ser)
17g.74919833_74919834insAGTCA2810423906USH1Gc.1002_1003insACT (p.Gly334_Gly335insThr)
c.*601_*602insACT (n.*601_*602insACT)
c.693_694insACT (p.Gly231_Gly232insThr)
17g.74919834C>ACA502036532USH1Gc.1002G>T (p.Gly334=)
c.*601G>T (n.*601G>T)
c.693G>T (p.Gly231=)
17g.74919834C>GCA502036533USH1Gc.1002G>C (p.Gly334=)
c.*601G>C (n.*601G>C)
c.693G>C (p.Gly231=)
17g.74919834C>TCA502036534USH1Gc.1002G>A (p.Gly334=)
c.*601G>A (n.*601G>A)
c.693G>A (p.Gly231=)
17g.74919835C>ACA400962086USH1Gc.1001G>T (p.Gly334Val)
c.*600G>T (n.*600G>T)
c.692G>T (p.Gly231Val)
17g.74919835C>GCA400962087USH1Gc.1001G>C (p.Gly334Ala)
c.*600G>C (n.*600G>C)
c.692G>C (p.Gly231Ala)
 ClinVar
17g.74919835C>TCA400962089USH1Gc.1001G>A (p.Gly334Glu)
c.*600G>A (n.*600G>A)
c.692G>A (p.Gly231Glu)
17g.74919835_74919836insGGCA2517861350USH1Gc.1000_1001insCC (p.Gly334AlafsTer?)
c.*599_*600insCC (n.*599_*600insCC)
c.691_692insCC (p.Gly231AlafsTer?)
17g.74919836C>ACA400962092USH1Gc.1000G>T (p.Gly334Trp)
c.*599G>T (n.*599G>T)
c.691G>T (p.Gly231Trp)
 gnomAD v4
17g.74919836C>GCA400962093USH1Gc.1000G>C (p.Gly334Arg)
c.*599G>C (n.*599G>C)
c.691G>C (p.Gly231Arg)
 gnomAD v4
17g.74919836C>TCA400962090USH1Gc.1000G>A (p.Gly334Arg)
c.*599G>A (n.*599G>A)
c.691G>A (p.Gly231Arg)
 gnomAD v4
17g.74919837A=CA2275255289USH1Gc.999T= (p.Asp333=)
c.*598T= (n.*598T=)
c.690T= (p.Asp230=)
17g.74919837A>CCA400962096USH1Gc.999T>G (p.Asp333Glu)
c.*598T>G (n.*598T>G)
c.690T>G (p.Asp230Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.74919837A>GCA502036542USH1Gc.999T>C (p.Asp333=)
c.*598T>C (n.*598T>C)
c.690T>C (p.Asp230=)
17g.74919837A>TCA400962097USH1Gc.999T>A (p.Asp333Glu)
c.*598T>A (n.*598T>A)
c.690T>A (p.Asp230Glu)
17g.74919837_74919838delCA2018007633USH1Gc.998_999del (p.Asp333GlyfsTer22)
c.*597_*598del (n.*597_*598del)
c.689_690del (p.Asp230GlyfsTer22)
17g.74919838T>ACA400962100USH1Gc.998A>T (p.Asp333Val)
c.*597A>T (n.*597A>T)
c.689A>T (p.Asp230Val)
 dbSNP gnomAD v3 gnomAD v4
17g.74919838T>CCA400962101USH1Gc.998A>G (p.Asp333Gly)
c.*597A>G (n.*597A>G)
c.689A>G (p.Asp230Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.74919838T>GCA400962103USH1Gc.998A>C (p.Asp333Ala)
c.*597A>C (n.*597A>C)
c.689A>C (p.Asp230Ala)
17g.74919838T=CA2275255290USH1Gc.998A= (p.Asp333=)
c.*597A= (n.*597A=)
c.689A= (p.Asp230=)

Number of alleles fetched