Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919941T>ACA400962678USH1Gc.895A>T (p.Thr299Ser)
c.*494A>T (n.*494A>T)
c.586A>T (p.Thr196Ser)
17g.74919941T>CCA400962680USH1Gc.895A>G (p.Thr299Ala)
c.*494A>G (n.*494A>G)
c.586A>G (p.Thr196Ala)
17g.74919941T>GCA400962683USH1Gc.895A>C (p.Thr299Pro)
c.*494A>C (n.*494A>C)
c.586A>C (p.Thr196Pro)
17g.74919942G>ACA502036752USH1Gc.894C>T (p.Ser298=)
c.*493C>T (n.*493C>T)
c.585C>T (p.Ser195=)
17g.74919942G>CCA400962684USH1Gc.894C>G (p.Ser298Arg)
c.*493C>G (n.*493C>G)
c.585C>G (p.Ser195Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919942G=CA2275255349USH1Gc.894C= (p.Ser298=)
c.*493C= (n.*493C=)
c.585C= (p.Ser195=)
17g.74919942G>TCA400962688USH1Gc.894C>A (p.Ser298Arg)
c.*493C>A (n.*493C>A)
c.585C>A (p.Ser195Arg)
 gnomAD v4
17g.74919943C>ACA400962692USH1Gc.893G>T (p.Ser298Ile)
c.*492G>T (n.*492G>T)
c.584G>T (p.Ser195Ile)
17g.74919943C>GCA400962693USH1Gc.893G>C (p.Ser298Thr)
c.*492G>C (n.*492G>C)
c.584G>C (p.Ser195Thr)
17g.74919943C>TCA400962696USH1Gc.893G>A (p.Ser298Asn)
c.*492G>A (n.*492G>A)
c.584G>A (p.Ser195Asn)
17g.74919944T>ACA400962699USH1Gc.892A>T (p.Ser298Cys)
c.*491A>T (n.*491A>T)
c.583A>T (p.Ser195Cys)
17g.74919944T>CCA400962702USH1Gc.892A>G (p.Ser298Gly)
c.*491A>G (n.*491A>G)
c.583A>G (p.Ser195Gly)
 dbSNP gnomAD v4
17g.74919944T>GCA400962706USH1Gc.892A>C (p.Ser298Arg)
c.*491A>C (n.*491A>C)
c.583A>C (p.Ser195Arg)
17g.74919944T=CA2275255350USH1Gc.892A= (p.Ser298=)
c.*491A= (n.*491A=)
c.583A= (p.Ser195=)
17g.74919945G>ACA502036758USH1Gc.891C>T (p.Val297=)
c.*490C>T (n.*490C>T)
c.582C>T (p.Val194=)
17g.74919945G>CCA502036760USH1Gc.891C>G (p.Val297=)
c.*490C>G (n.*490C>G)
c.582C>G (p.Val194=)
17g.74919945G>TCA502036762USH1Gc.891C>A (p.Val297=)
c.*490C>A (n.*490C>A)
c.582C>A (p.Val194=)
17g.74919946A>CCA400962715USH1Gc.890T>G (p.Val297Gly)
c.*489T>G (n.*489T>G)
c.581T>G (p.Val194Gly)
17g.74919946A>GCA400962713USH1Gc.890T>C (p.Val297Ala)
c.*489T>C (n.*489T>C)
c.581T>C (p.Val194Ala)
17g.74919946A>TCA400962710USH1Gc.890T>A (p.Val297Asp)
c.*489T>A (n.*489T>A)
c.581T>A (p.Val194Asp)
17g.74919946_74919949delinsACCTCA2275255351USH1Gc.887_890delinsAGGT (p.Glu296=)
c.*486_*489delinsAGGT (n.*486_*489delinsAGGT)
c.578_581delinsAGGT (p.Glu193=)
17g.74919947C>ACA400962718USH1Gc.889G>T (p.Val297Phe)
c.*488G>T (n.*488G>T)
c.580G>T (p.Val194Phe)
17g.74919947C>GCA400962720USH1Gc.889G>C (p.Val297Leu)
c.*488G>C (n.*488G>C)
c.580G>C (p.Val194Leu)
17g.74919947C>TCA400962723USH1Gc.889G>A (p.Val297Ile)
c.*488G>A (n.*488G>A)
c.580G>A (p.Val194Ile)
17g.74919949_74919951delCA8753976USH1Gc.887_889del (p.Glu296del)
c.*486_*488del (n.*486_*488del)
c.578_580del (p.Glu193del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919948C>ACA400962727USH1Gc.888G>T (p.Glu296Asp)
c.*487G>T (n.*487G>T)
c.579G>T (p.Glu193Asp)
17g.74919948C=CA2275255352USH1Gc.888G= (p.Glu296=)
c.*487G= (n.*487G=)
c.579G= (p.Glu193=)
17g.74919948C>GCA400962728USH1Gc.888G>C (p.Glu296Asp)
c.*487G>C (n.*487G>C)
c.579G>C (p.Glu193Asp)
17g.74919948C>TCA502036771USH1Gc.888G>A (p.Glu296=)
c.*487G>A (n.*487G>A)
c.579G>A (p.Glu193=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919949T>ACA400962732USH1Gc.887A>T (p.Glu296Val)
c.*486A>T (n.*486A>T)
c.578A>T (p.Glu193Val)
17g.74919949T>CCA400962734USH1Gc.887A>G (p.Glu296Gly)
c.*486A>G (n.*486A>G)
c.578A>G (p.Glu193Gly)
17g.74919949T>GCA8753977USH1Gc.887A>C (p.Glu296Ala)
c.*486A>C (n.*486A>C)
c.578A>C (p.Glu193Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919949T=CA2275255353USH1Gc.887A= (p.Glu296=)
c.*486A= (n.*486A=)
c.578A= (p.Glu193=)
17g.74919950C>ACA400962742USH1Gc.886G>T (p.Glu296Ter)
c.*485G>T (n.*485G>T)
c.577G>T (p.Glu193Ter)
17g.74919950C>GCA400962744USH1Gc.886G>C (p.Glu296Gln)
c.*485G>C (n.*485G>C)
c.577G>C (p.Glu193Gln)
17g.74919950C>TCA400962747USH1Gc.886G>A (p.Glu296Lys)
c.*485G>A (n.*485G>A)
c.577G>A (p.Glu193Lys)
 gnomAD v4
17g.74919951C>ACA502036780USH1Gc.885G>T (p.Ser295=)
c.*484G>T (n.*484G>T)
c.576G>T (p.Ser192=)
 ClinVar
17g.74919951C=CA2275255354USH1Gc.885G= (p.Ser295=)
c.*484G= (n.*484G=)
c.576G= (p.Ser192=)
17g.74919951C>GCA8753978USH1Gc.885G>C (p.Ser295=)
c.*484G>C (n.*484G>C)
c.576G>C (p.Ser192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919951C>TCA502036777USH1Gc.885G>A (p.Ser295=)
c.*484G>A (n.*484G>A)
c.576G>A (p.Ser192=)
 gnomAD v4
17g.74919952G>ACA400962755USH1Gc.884C>T (p.Ser295Leu)
c.*483C>T (n.*483C>T)
c.575C>T (p.Ser192Leu)
 ClinVar dbSNP gnomAD v4
17g.74919952G>CCA400962757USH1Gc.884C>G (p.Ser295Trp)
c.*483C>G (n.*483C>G)
c.575C>G (p.Ser192Trp)
17g.74919952G>TCA400962753USH1Gc.884C>A (p.Ser295Ter)
c.*483C>A (n.*483C>A)
c.575C>A (p.Ser192Ter)
17g.74919953A>CCA400962766USH1Gc.883T>G (p.Ser295Ala)
c.*482T>G (n.*482T>G)
c.574T>G (p.Ser192Ala)
 dbSNP
17g.74919953A>GCA400962760USH1Gc.883T>C (p.Ser295Pro)
c.*482T>C (n.*482T>C)
c.574T>C (p.Ser192Pro)
17g.74919953A>TCA400962763USH1Gc.883T>A (p.Ser295Thr)
c.*482T>A (n.*482T>A)
c.574T>A (p.Ser192Thr)
17g.74919954G>ACA502036785USH1Gc.882C>T (p.His294=)
c.*481C>T (n.*481C>T)
c.573C>T (p.His191=)
17g.74919954G>CCA400962768USH1Gc.882C>G (p.His294Gln)
c.*481C>G (n.*481C>G)
c.573C>G (p.His191Gln)
17g.74919954G>TCA400962772USH1Gc.882C>A (p.His294Gln)
c.*481C>A (n.*481C>A)
c.573C>A (p.His191Gln)
17g.74919955T>ACA400962774USH1Gc.881A>T (p.His294Leu)
c.*480A>T (n.*480A>T)
c.572A>T (p.His191Leu)
17g.74919955T>CCA400962777USH1Gc.881A>G (p.His294Arg)
c.*480A>G (n.*480A>G)
c.572A>G (p.His191Arg)
17g.74919955T>GCA400962779USH1Gc.881A>C (p.His294Pro)
c.*480A>C (n.*480A>C)
c.572A>C (p.His191Pro)
17g.74919956G>ACA400962782USH1Gc.880C>T (p.His294Tyr)
c.*479C>T (n.*479C>T)
c.571C>T (p.His191Tyr)
17g.74919956G>CCA8753979USH1Gc.880C>G (p.His294Asp)
c.*479C>G (n.*479C>G)
c.571C>G (p.His191Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919956G=CA2275255355USH1Gc.880C= (p.His294=)
c.*479C= (n.*479C=)
c.571C= (p.His191=)
17g.74919956G>TCA400962786USH1Gc.880C>A (p.His294Asn)
c.*479C>A (n.*479C>A)
c.571C>A (p.His191Asn)
17g.74919957G>ACA502036790USH1Gc.879C>T (p.Ala293=)
c.*478C>T (n.*478C>T)
c.570C>T (p.Ala190=)
 ClinVar dbSNP
17g.74919957G>CCA502036791USH1Gc.879C>G (p.Ala293=)
c.*478C>G (n.*478C>G)
c.570C>G (p.Ala190=)
17g.74919957G>TCA502036792USH1Gc.879C>A (p.Ala293=)
c.*478C>A (n.*478C>A)
c.570C>A (p.Ala190=)
17g.74919958G>ACA400962788USH1Gc.878C>T (p.Ala293Val)
c.*477C>T (n.*477C>T)
c.569C>T (p.Ala190Val)
 dbSNP gnomAD v4
17g.74919958G>CCA400962791USH1Gc.878C>G (p.Ala293Gly)
c.*477C>G (n.*477C>G)
c.569C>G (p.Ala190Gly)
17g.74919958G=CA2275255356USH1Gc.878C= (p.Ala293=)
c.*477C= (n.*477C=)
c.569C= (p.Ala190=)
17g.74919958G>TCA400962795USH1Gc.878C>A (p.Ala293Asp)
c.*477C>A (n.*477C>A)
c.569C>A (p.Ala190Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74919959C>ACA400962805USH1Gc.877G>T (p.Ala293Ser)
c.*476G>T (n.*476G>T)
c.568G>T (p.Ala190Ser)
17g.74919959C=CA2275255357USH1Gc.877G= (p.Ala293=)
c.*476G= (n.*476G=)
c.568G= (p.Ala190=)
17g.74919959C>GCA400962798USH1Gc.877G>C (p.Ala293Pro)
c.*476G>C (n.*476G>C)
c.568G>C (p.Ala190Pro)
17g.74919959C>TCA400962802USH1Gc.877G>A (p.Ala293Thr)
c.*476G>A (n.*476G>A)
c.568G>A (p.Ala190Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919960A>CCA502036802USH1Gc.876T>G (p.Pro292=)
c.*475T>G (n.*475T>G)
c.567T>G (p.Pro189=)
17g.74919960A>GCA502036803USH1Gc.876T>C (p.Pro292=)
c.*475T>C (n.*475T>C)
c.567T>C (p.Pro189=)
17g.74919960A>TCA502036804USH1Gc.876T>A (p.Pro292=)
c.*475T>A (n.*475T>A)
c.567T>A (p.Pro189=)
17g.74919961G>ACA400962808USH1Gc.875C>T (p.Pro292Leu)
c.*474C>T (n.*474C>T)
c.566C>T (p.Pro189Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.74919961G>CCA400962811USH1Gc.875C>G (p.Pro292Arg)
c.*474C>G (n.*474C>G)
c.566C>G (p.Pro189Arg)
17g.74919961G=CA2275255358USH1Gc.875C= (p.Pro292=)
c.*474C= (n.*474C=)
c.566C= (p.Pro189=)
17g.74919961G>TCA400962814USH1Gc.875C>A (p.Pro292His)
c.*474C>A (n.*474C>A)
c.566C>A (p.Pro189His)
17g.74919962G>ACA400962817USH1Gc.874C>T (p.Pro292Ser)
c.*473C>T (n.*473C>T)
c.565C>T (p.Pro189Ser)
17g.74919962G>CCA8753980USH1Gc.874C>G (p.Pro292Ala)
c.*473C>G (n.*473C>G)
c.565C>G (p.Pro189Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919962G=CA2275255359USH1Gc.874C= (p.Pro292=)
c.*473C= (n.*473C=)
c.565C= (p.Pro189=)
17g.74919962G>TCA400962819USH1Gc.874C>A (p.Pro292Thr)
c.*473C>A (n.*473C>A)
c.565C>A (p.Pro189Thr)
 dbSNP gnomAD v4
17g.74919963C>ACA400962822USH1Gc.873G>T (p.Glu291Asp)
c.*472G>T (n.*472G>T)
c.564G>T (p.Glu188Asp)
 gnomAD v4
17g.74919963C=CA2275255360USH1Gc.873G= (p.Glu291=)
c.*472G= (n.*472G=)
c.564G= (p.Glu188=)
17g.74919963C>GCA400962824USH1Gc.873G>C (p.Glu291Asp)
c.*472G>C (n.*472G>C)
c.564G>C (p.Glu188Asp)
 ClinVar dbSNP
17g.74919963C>TCA502036809USH1Gc.873G>A (p.Glu291=)
c.*472G>A (n.*472G>A)
c.564G>A (p.Glu188=)
 dbSNP
17g.74919964T>ACA400962829USH1Gc.872A>T (p.Glu291Val)
c.*471A>T (n.*471A>T)
c.563A>T (p.Glu188Val)
17g.74919964T>CCA400962831USH1Gc.872A>G (p.Glu291Gly)
c.*471A>G (n.*471A>G)
c.563A>G (p.Glu188Gly)
17g.74919964T>GCA400962833USH1Gc.872A>C (p.Glu291Ala)
c.*471A>C (n.*471A>C)
c.563A>C (p.Glu188Ala)
17g.74919965C>ACA400962843USH1Gc.871G>T (p.Glu291Ter)
c.*470G>T (n.*470G>T)
c.562G>T (p.Glu188Ter)
17g.74919965C=CA2275255361USH1Gc.871G= (p.Glu291=)
c.*470G= (n.*470G=)
c.562G= (p.Glu188=)
17g.74919965C>GCA400962839USH1Gc.871G>C (p.Glu291Gln)
c.*470G>C (n.*470G>C)
c.562G>C (p.Glu188Gln)
17g.74919965C>TCA400962838USH1Gc.871G>A (p.Glu291Lys)
c.*470G>A (n.*470G>A)
c.562G>A (p.Glu188Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919966G>ACA8753981USH1Gc.870C>T (p.Ala290=)
c.*469C>T (n.*469C>T)
c.561C>T (p.Ala187=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919966G>CCA502036819USH1Gc.870C>G (p.Ala290=)
c.*469C>G (n.*469C>G)
c.561C>G (p.Ala187=)
17g.74919966G=CA2275255362USH1Gc.870C= (p.Ala290=)
c.*469C= (n.*469C=)
c.561C= (p.Ala187=)
17g.74919966G>TCA502036820USH1Gc.870C>A (p.Ala290=)
c.*469C>A (n.*469C>A)
c.561C>A (p.Ala187=)
17g.74919967G>ACA400962848USH1Gc.869C>T (p.Ala290Val)
c.*468C>T (n.*468C>T)
c.560C>T (p.Ala187Val)
17g.74919967G>CCA400962851USH1Gc.869C>G (p.Ala290Gly)
c.*468C>G (n.*468C>G)
c.560C>G (p.Ala187Gly)
17g.74919967G>TCA400962852USH1Gc.869C>A (p.Ala290Asp)
c.*468C>A (n.*468C>A)
c.560C>A (p.Ala187Asp)
17g.74919968C>ACA400962855USH1Gc.868G>T (p.Ala290Ser)
c.*467G>T (n.*467G>T)
c.559G>T (p.Ala187Ser)
 gnomAD v4
17g.74919968C>GCA400962857USH1Gc.868G>C (p.Ala290Pro)
c.*467G>C (n.*467G>C)
c.559G>C (p.Ala187Pro)
17g.74919968C>TCA400962858USH1Gc.868G>A (p.Ala290Thr)
c.*467G>A (n.*467G>A)
c.559G>A (p.Ala187Thr)
17g.74919969C>ACA502036822USH1Gc.867G>T (p.Ala289=)
c.*466G>T (n.*466G>T)
c.558G>T (p.Ala186=)
17g.74919969C=CA2275255363USH1Gc.867G= (p.Ala289=)
c.*466G= (n.*466G=)
c.558G= (p.Ala186=)
17g.74919969C>GCA502036824USH1Gc.867G>C (p.Ala289=)
c.*466G>C (n.*466G>C)
c.558G>C (p.Ala186=)
17g.74919969C>TCA8753982USH1Gc.867G>A (p.Ala289=)
c.*466G>A (n.*466G>A)
c.558G>A (p.Ala186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919970G>ACA8753983USH1Gc.866C>T (p.Ala289Val)
c.*465C>T (n.*465C>T)
c.557C>T (p.Ala186Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919970G>CCA400962865USH1Gc.866C>G (p.Ala289Gly)
c.*465C>G (n.*465C>G)
c.557C>G (p.Ala186Gly)
17g.74919970G=CA2275255364USH1Gc.866C= (p.Ala289=)
c.*465C= (n.*465C=)
c.557C= (p.Ala186=)
17g.74919970G>TCA400962867USH1Gc.866C>A (p.Ala289Glu)
c.*465C>A (n.*465C>A)
c.557C>A (p.Ala186Glu)
17g.74919971C>ACA400962873USH1Gc.865G>T (p.Ala289Ser)
c.*464G>T (n.*464G>T)
c.556G>T (p.Ala186Ser)
17g.74919971C>GCA400962875USH1Gc.865G>C (p.Ala289Pro)
c.*464G>C (n.*464G>C)
c.556G>C (p.Ala186Pro)
17g.74919971C>TCA400962876USH1Gc.865G>A (p.Ala289Thr)
c.*464G>A (n.*464G>A)
c.556G>A (p.Ala186Thr)
17g.74919972C>ACA502036831USH1Gc.864G>T (p.Leu288=)
c.*463G>T (n.*463G>T)
c.555G>T (p.Leu185=)
17g.74919972C>GCA502036832USH1Gc.864G>C (p.Leu288=)
c.*463G>C (n.*463G>C)
c.555G>C (p.Leu185=)
17g.74919972C>TCA502036830USH1Gc.864G>A (p.Leu288=)
c.*463G>A (n.*463G>A)
c.555G>A (p.Leu185=)
17g.74919973A>CCA400962881USH1Gc.863T>G (p.Leu288Arg)
c.*462T>G (n.*462T>G)
c.554T>G (p.Leu185Arg)
17g.74919973A>GCA400962885USH1Gc.863T>C (p.Leu288Pro)
c.*462T>C (n.*462T>C)
c.554T>C (p.Leu185Pro)
17g.74919973A>TCA400962883USH1Gc.863T>A (p.Leu288Gln)
c.*462T>A (n.*462T>A)
c.554T>A (p.Leu185Gln)
17g.74919974G>ACA502036836USH1Gc.862C>T (p.Leu288=)
c.*461C>T (n.*461C>T)
c.553C>T (p.Leu185=)
17g.74919974G>CCA400962887USH1Gc.862C>G (p.Leu288Val)
c.*461C>G (n.*461C>G)
c.553C>G (p.Leu185Val)
17g.74919974G>TCA400962889USH1Gc.862C>A (p.Leu288Met)
c.*461C>A (n.*461C>A)
c.553C>A (p.Leu185Met)
17g.74919975C>ACA502036850USH1Gc.861G>T (p.Thr287=)
c.*460G>T (n.*460G>T)
c.552G>T (p.Thr184=)
 gnomAD v4
17g.74919975C>GCA502036847USH1Gc.861G>C (p.Thr287=)
c.*460G>C (n.*460G>C)
c.552G>C (p.Thr184=)
 COSMIC
17g.74919975C>TCA502036849USH1Gc.861G>A (p.Thr287=)
c.*460G>A (n.*460G>A)
c.552G>A (p.Thr184=)
 gnomAD v3 gnomAD v4
17g.74919976G>ACA400962892USH1Gc.860C>T (p.Thr287Met)
c.*459C>T (n.*459C>T)
c.551C>T (p.Thr184Met)
 ClinVar gnomAD v4
17g.74919976G>CCA400962894USH1Gc.860C>G (p.Thr287Arg)
c.*459C>G (n.*459C>G)
c.551C>G (p.Thr184Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919976G=CA2275255365USH1Gc.860C= (p.Thr287=)
c.*459C= (n.*459C=)
c.551C= (p.Thr184=)
17g.74919976G>TCA400962897USH1Gc.860C>A (p.Thr287Lys)
c.*459C>A (n.*459C>A)
c.551C>A (p.Thr184Lys)
 gnomAD v4
17g.74919977T>ACA400962900USH1Gc.859A>T (p.Thr287Ser)
c.*458A>T (n.*458A>T)
c.550A>T (p.Thr184Ser)
17g.74919977T>CCA8753984USH1Gc.859A>G (p.Thr287Ala)
c.*458A>G (n.*458A>G)
c.550A>G (p.Thr184Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919977T>GCA400962905USH1Gc.859A>C (p.Thr287Pro)
c.*458A>C (n.*458A>C)
c.550A>C (p.Thr184Pro)
17g.74919977T=CA2275255366USH1Gc.859A= (p.Thr287=)
c.*458A= (n.*458A=)
c.550A= (p.Thr184=)
17g.74919978G>ACA502036857USH1Gc.858C>T (p.Ala286=)
c.*457C>T (n.*457C>T)
c.549C>T (p.Ala183=)
 COSMIC
17g.74919978G>CCA8753985USH1Gc.858C>G (p.Ala286=)
c.*457C>G (n.*457C>G)
c.549C>G (p.Ala183=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919978G=CA2275255367USH1Gc.858C= (p.Ala286=)
c.*457C= (n.*457C=)
c.549C= (p.Ala183=)
17g.74919978G>TCA502036860USH1Gc.858C>A (p.Ala286=)
c.*457C>A (n.*457C>A)
c.549C>A (p.Ala183=)
17g.74919979G>ACA400962911USH1Gc.857C>T (p.Ala286Val)
c.*456C>T (n.*456C>T)
c.548C>T (p.Ala183Val)
 gnomAD v4 COSMIC
17g.74919979G>CCA400962913USH1Gc.857C>G (p.Ala286Gly)
c.*456C>G (n.*456C>G)
c.548C>G (p.Ala183Gly)
17g.74919979G>TCA400962916USH1Gc.857C>A (p.Ala286Asp)
c.*456C>A (n.*456C>A)
c.548C>A (p.Ala183Asp)
17g.74919980C>ACA400962923USH1Gc.856G>T (p.Ala286Ser)
c.*455G>T (n.*455G>T)
c.547G>T (p.Ala183Ser)
17g.74919980C>GCA400962921USH1Gc.856G>C (p.Ala286Pro)
c.*455G>C (n.*455G>C)
c.547G>C (p.Ala183Pro)
17g.74919980C>TCA400962918USH1Gc.856G>A (p.Ala286Thr)
c.*455G>A (n.*455G>A)
c.547G>A (p.Ala183Thr)
17g.74919981A=CA2275255368USH1Gc.855T= (p.Arg285=)
c.*454T= (n.*454T=)
c.546T= (p.Arg182=)
17g.74919981A>CCA502036862USH1Gc.855T>G (p.Arg285=)
c.*454T>G (n.*454T>G)
c.546T>G (p.Arg182=)
17g.74919981A>GCA502036863USH1Gc.855T>C (p.Arg285=)
c.*454T>C (n.*454T>C)
c.546T>C (p.Arg182=)
17g.74919981A>TCA502036870USH1Gc.855T>A (p.Arg285=)
c.*454T>A (n.*454T>A)
c.546T>A (p.Arg182=)
 gnomAD v4
17g.74919982C>ACA400962930USH1Gc.854G>T (p.Arg285Leu)
c.*453G>T (n.*453G>T)
c.545G>T (p.Arg182Leu)
17g.74919982C>GCA400962927USH1Gc.854G>C (p.Arg285Pro)
c.*453G>C (n.*453G>C)
c.545G>C (p.Arg182Pro)
 gnomAD v4
17g.74919982C>TCA400962933USH1Gc.854G>A (p.Arg285His)
c.*453G>A (n.*453G>A)
c.545G>A (p.Arg182His)
17g.74919982dupCA913190612USH1Gc.854dup (p.Ala286CysfsTer?)
c.*453dup (n.*453dup)
c.545dup (p.Ala183CysfsTer?)
 ClinVar dbSNP gnomAD v4
17g.74919984_74919999delCA2639747710USH1Gc.839_854del (p.Glu280ValfsTer?)
c.*438_*453del (n.*438_*453del)
c.530_545del (p.Glu177ValfsTer?)
 gnomAD v4
17g.74919983G>ACA400962936USH1Gc.853C>T (p.Arg285Cys)
c.*452C>T (n.*452C>T)
c.544C>T (p.Arg182Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919983G>CCA400962938USH1Gc.853C>G (p.Arg285Gly)
c.*452C>G (n.*452C>G)
c.544C>G (p.Arg182Gly)
17g.74919983G=CA2275255369USH1Gc.853C= (p.Arg285=)
c.*452C= (n.*452C=)
c.544C= (p.Arg182=)
17g.74919983G>TCA400962941USH1Gc.853C>A (p.Arg285Ser)
c.*452C>A (n.*452C>A)
c.544C>A (p.Arg182Ser)
17g.74919984G>ACA502036875USH1Gc.852C>T (p.Ser284=)
c.*451C>T (n.*451C>T)
c.543C>T (p.Ser181=)
 COSMIC
17g.74919984G>CCA502036876USH1Gc.852C>G (p.Ser284=)
c.*451C>G (n.*451C>G)
c.543C>G (p.Ser181=)
17g.74919984G>TCA502036878USH1Gc.852C>A (p.Ser284=)
c.*451C>A (n.*451C>A)
c.543C>A (p.Ser181=)
17g.74919984_74920004delinsGGAGACGCTGTCCTCGTCCGACA2275255370USH1Gc.832_852delinsTCGGACGAGGACAGCGTCTCC (p.Ser278=)
c.*431_*451delinsTCGGACGAGGACAGCGTCTCC (n.*431_*451delinsTCGGACGAGGACAGCGTCTCC)
c.523_543delinsTCGGACGAGGACAGCGTCTCC (p.Ser175=)
17g.74919985G>ACA400962945USH1Gc.851C>T (p.Ser284Phe)
c.*450C>T (n.*450C>T)
c.542C>T (p.Ser181Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919985G>CCA400962947USH1Gc.851C>G (p.Ser284Cys)
c.*450C>G (n.*450C>G)
c.542C>G (p.Ser181Cys)
 ClinVar dbSNP
17g.74919985G=CA2275255371USH1Gc.851C= (p.Ser284=)
c.*450C= (n.*450C=)
c.542C= (p.Ser181=)
17g.74919985G>TCA400962951USH1Gc.851C>A (p.Ser284Tyr)
c.*450C>A (n.*450C>A)
c.542C>A (p.Ser181Tyr)
17g.74919988_74920007delCA340026USH1Gc.832_851del (p.Ser278ProfsTer?)
c.*431_*450del (n.*431_*450del)
c.523_542del (p.Ser175ProfsTer?)
 ClinVar dbSNP
17g.74919986A>CCA400962957USH1Gc.850T>G (p.Ser284Ala)
c.*449T>G (n.*449T>G)
c.541T>G (p.Ser181Ala)
17g.74919986A>GCA400962960USH1Gc.850T>C (p.Ser284Pro)
c.*449T>C (n.*449T>C)
c.541T>C (p.Ser181Pro)
17g.74919986A>TCA400962959USH1Gc.850T>A (p.Ser284Thr)
c.*449T>A (n.*449T>A)
c.541T>A (p.Ser181Thr)
17g.74919987G>ACA8753986USH1Gc.849C>T (p.Val283=)
c.*448C>T (n.*448C>T)
c.540C>T (p.Val180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919987G>CCA502036885USH1Gc.849C>G (p.Val283=)
c.*448C>G (n.*448C>G)
c.540C>G (p.Val180=)
17g.74919987G=CA2275255372USH1Gc.849C= (p.Val283=)
c.*448C= (n.*448C=)
c.540C= (p.Val180=)
17g.74919987G>TCA502036886USH1Gc.849C>A (p.Val283=)
c.*448C>A (n.*448C>A)
c.540C>A (p.Val180=)
17g.74919988A>CCA400962967USH1Gc.848T>G (p.Val283Gly)
c.*447T>G (n.*447T>G)
c.539T>G (p.Val180Gly)
17g.74919988A>GCA400962968USH1Gc.848T>C (p.Val283Ala)
c.*447T>C (n.*447T>C)
c.539T>C (p.Val180Ala)
17g.74919988A>TCA400962970USH1Gc.848T>A (p.Val283Asp)
c.*447T>A (n.*447T>A)
c.539T>A (p.Val180Asp)
17g.74919989C>ACA400962976USH1Gc.847G>T (p.Val283Phe)
c.*446G>T (n.*446G>T)
c.538G>T (p.Val180Phe)
17g.74919989C=CA2275255373USH1Gc.847G= (p.Val283=)
c.*446G= (n.*446G=)
c.538G= (p.Val180=)
17g.74919989C>GCA400962974USH1Gc.847G>C (p.Val283Leu)
c.*446G>C (n.*446G>C)
c.538G>C (p.Val180Leu)
17g.74919989C>TCA400962975USH1Gc.847G>A (p.Val283Ile)
c.*446G>A (n.*446G>A)
c.538G>A (p.Val180Ile)
 ClinVar dbSNP gnomAD v4
17g.74919990G>ACA502036893USH1Gc.846C>T (p.Ser282=)
c.*445C>T (n.*445C>T)
c.537C>T (p.Ser179=)
 dbSNP gnomAD v2 gnomAD v4
17g.74919990G>CCA400962980USH1Gc.846C>G (p.Ser282Arg)
c.*445C>G (n.*445C>G)
c.537C>G (p.Ser179Arg)
17g.74919990G=CA2275255374USH1Gc.846C= (p.Ser282=)
c.*445C= (n.*445C=)
c.537C= (p.Ser179=)
17g.74919990G>TCA400962981USH1Gc.846C>A (p.Ser282Arg)
c.*445C>A (n.*445C>A)
c.537C>A (p.Ser179Arg)
 gnomAD v4
17g.74919991C>ACA400962983USH1Gc.845G>T (p.Ser282Ile)
c.*444G>T (n.*444G>T)
c.536G>T (p.Ser179Ile)
17g.74919991C=CA2275255375USH1Gc.845G= (p.Ser282=)
c.*444G= (n.*444G=)
c.536G= (p.Ser179=)
17g.74919991C>GCA8753987USH1Gc.845G>C (p.Ser282Thr)
c.*444G>C (n.*444G>C)
c.536G>C (p.Ser179Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919991C>TCA400962985USH1Gc.845G>A (p.Ser282Asn)
c.*444G>A (n.*444G>A)
c.536G>A (p.Ser179Asn)
17g.74919992T>ACA400962988USH1Gc.844A>T (p.Ser282Cys)
c.*443A>T (n.*443A>T)
c.535A>T (p.Ser179Cys)
17g.74919992T>CCA8753988USH1Gc.844A>G (p.Ser282Gly)
c.*443A>G (n.*443A>G)
c.535A>G (p.Ser179Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.74919992T>GCA400962992USH1Gc.844A>C (p.Ser282Arg)
c.*443A>C (n.*443A>C)
c.535A>C (p.Ser179Arg)
17g.74919992T=CA2275255376USH1Gc.844A= (p.Ser282=)
c.*443A= (n.*443A=)
c.535A= (p.Ser179=)
17g.74919993G>ACA502036900USH1Gc.843C>T (p.Asp281=)
c.*442C>T (n.*442C>T)
c.534C>T (p.Asp178=)
17g.74919993G>CCA400962996USH1Gc.843C>G (p.Asp281Glu)
c.*442C>G (n.*442C>G)
c.534C>G (p.Asp178Glu)
17g.74919993G=CA2275255377USH1Gc.843C= (p.Asp281=)
c.*442C= (n.*442C=)
c.534C= (p.Asp178=)
17g.74919993G>TCA400962999USH1Gc.843C>A (p.Asp281Glu)
c.*442C>A (n.*442C>A)
c.534C>A (p.Asp178Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.74919994T>ACA400963001USH1Gc.842A>T (p.Asp281Val)
c.*441A>T (n.*441A>T)
c.533A>T (p.Asp178Val)
17g.74919994T>CCA400963004USH1Gc.842A>G (p.Asp281Gly)
c.*441A>G (n.*441A>G)
c.533A>G (p.Asp178Gly)
17g.74919994T>GCA400963007USH1Gc.842A>C (p.Asp281Ala)
c.*441A>C (n.*441A>C)
c.533A>C (p.Asp178Ala)
17g.74919995C>ACA400963010USH1Gc.841G>T (p.Asp281Tyr)
c.*440G>T (n.*440G>T)
c.532G>T (p.Asp178Tyr)
17g.74919995C=CA2275255378USH1Gc.841G= (p.Asp281=)
c.*440G= (n.*440G=)
c.532G= (p.Asp178=)
17g.74919995C>GCA400963014USH1Gc.841G>C (p.Asp281His)
c.*440G>C (n.*440G>C)
c.532G>C (p.Asp178His)
17g.74919995C>TCA400963012USH1Gc.841G>A (p.Asp281Asn)
c.*440G>A (n.*440G>A)
c.532G>A (p.Asp178Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.74919996C>ACA400963016USH1Gc.840G>T (p.Glu280Asp)
c.*439G>T (n.*439G>T)
c.531G>T (p.Glu177Asp)
17g.74919996C=CA2275255379USH1Gc.840G= (p.Glu280=)
c.*439G= (n.*439G=)
c.531G= (p.Glu177=)
17g.74919996C>GCA400963018USH1Gc.840G>C (p.Glu280Asp)
c.*439G>C (n.*439G>C)
c.531G>C (p.Glu177Asp)
 gnomAD v4
17g.74919996C>TCA8753989USH1Gc.840G>A (p.Glu280=)
c.*439G>A (n.*439G>A)
c.531G>A (p.Glu177=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919997T>ACA400963021USH1Gc.839A>T (p.Glu280Val)
c.*438A>T (n.*438A>T)
c.530A>T (p.Glu177Val)
17g.74919997T>CCA8753990USH1Gc.839A>G (p.Glu280Gly)
c.*438A>G (n.*438A>G)
c.530A>G (p.Glu177Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919997T>GCA400963023USH1Gc.839A>C (p.Glu280Ala)
c.*438A>C (n.*438A>C)
c.530A>C (p.Glu177Ala)
17g.74919997T=CA2275255380USH1Gc.839A= (p.Glu280=)
c.*438A= (n.*438A=)
c.530A= (p.Glu177=)
17g.74919998C>ACA400963026USH1Gc.838G>T (p.Glu280Ter)
c.*437G>T (n.*437G>T)
c.529G>T (p.Glu177Ter)
17g.74919998C=CA2275255381USH1Gc.838G= (p.Glu280=)
c.*437G= (n.*437G=)
c.529G= (p.Glu177=)
17g.74919998C>GCA400963027USH1Gc.838G>C (p.Glu280Gln)
c.*437G>C (n.*437G>C)
c.529G>C (p.Glu177Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919998C>TCA8753991USH1Gc.838G>A (p.Glu280Lys)
c.*437G>A (n.*437G>A)
c.529G>A (p.Glu177Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74919999G>ACA502036911USH1Gc.837C>T (p.Asp279=)
c.*436C>T (n.*436C>T)
c.528C>T (p.Asp176=)
 dbSNP
17g.74919999G>CCA182580USH1Gc.837C>G (p.Asp279Glu)
c.*436C>G (n.*436C>G)
c.528C>G (p.Asp176Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919999G=CA2275255382USH1Gc.837C= (p.Asp279=)
c.*436C= (n.*436C=)
c.528C= (p.Asp176=)
17g.74919999G>TCA400963030USH1Gc.837C>A (p.Asp279Glu)
c.*436C>A (n.*436C>A)
c.528C>A (p.Asp176Glu)
17g.74920000T>ACA400963035USH1Gc.836A>T (p.Asp279Val)
c.*435A>T (n.*435A>T)
c.527A>T (p.Asp176Val)
17g.74920000T>CCA400963034USH1Gc.836A>G (p.Asp279Gly)
c.*435A>G (n.*435A>G)
c.527A>G (p.Asp176Gly)
17g.74920000T>GCA400963032USH1Gc.836A>C (p.Asp279Ala)
c.*435A>C (n.*435A>C)
c.527A>C (p.Asp176Ala)
17g.74920001C>ACA400963037USH1Gc.835G>T (p.Asp279Tyr)
c.*434G>T (n.*434G>T)
c.526G>T (p.Asp176Tyr)
17g.74920001C>GCA400963039USH1Gc.835G>C (p.Asp279His)
c.*434G>C (n.*434G>C)
c.526G>C (p.Asp176His)
17g.74920001C>TCA400963041USH1Gc.835G>A (p.Asp279Asn)
c.*434G>A (n.*434G>A)
c.526G>A (p.Asp176Asn)
 COSMIC
17g.74920002C>ACA502036917USH1Gc.834G>T (p.Ser278=)
c.*433G>T (n.*433G>T)
c.525G>T (p.Ser175=)
17g.74920002C=CA2275255383USH1Gc.834G= (p.Ser278=)
c.*433G= (n.*433G=)
c.525G= (p.Ser175=)
17g.74920002C>GCA502036918USH1Gc.834G>C (p.Ser278=)
c.*433G>C (n.*433G>C)
c.525G>C (p.Ser175=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920002C>TCA502036919USH1Gc.834G>A (p.Ser278=)
c.*433G>A (n.*433G>A)
c.525G>A (p.Ser175=)
 dbSNP gnomAD v4
17g.74920003G>ACA400963043USH1Gc.833C>T (p.Ser278Leu)
c.*432C>T (n.*432C>T)
c.524C>T (p.Ser175Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920003G>CCA400963045USH1Gc.833C>G (p.Ser278Trp)
c.*432C>G (n.*432C>G)
c.524C>G (p.Ser175Trp)
17g.74920003G=CA2275255384USH1Gc.833C= (p.Ser278=)
c.*432C= (n.*432C=)
c.524C= (p.Ser175=)
17g.74920003G>TCA400963046USH1Gc.833C>A (p.Ser278Ter)
c.*432C>A (n.*432C>A)
c.524C>A (p.Ser175Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.74920004A>CCA400963048USH1Gc.832T>G (p.Ser278Ala)
c.*431T>G (n.*431T>G)
c.523T>G (p.Ser175Ala)
17g.74920004A>GCA400963050USH1Gc.832T>C (p.Ser278Pro)
c.*431T>C (n.*431T>C)
c.523T>C (p.Ser175Pro)
17g.74920004A>TCA400963051USH1Gc.832T>A (p.Ser278Thr)
c.*431T>A (n.*431T>A)
c.523T>A (p.Ser175Thr)
17g.74920005G>ACA502036926USH1Gc.831C>T (p.Leu277=)
c.*430C>T (n.*430C>T)
c.522C>T (p.Leu174=)
17g.74920005G>CCA502036928USH1Gc.831C>G (p.Leu277=)
c.*430C>G (n.*430C>G)
c.522C>G (p.Leu174=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920005G=CA2275255385USH1Gc.831C= (p.Leu277=)
c.*430C= (n.*430C=)
c.522C= (p.Leu174=)
17g.74920005G>TCA502036929USH1Gc.831C>A (p.Leu277=)
c.*430C>A (n.*430C>A)
c.522C>A (p.Leu174=)
17g.74920006A>CCA400963053USH1Gc.830T>G (p.Leu277Arg)
c.*429T>G (n.*429T>G)
c.521T>G (p.Leu174Arg)
17g.74920006A>GCA400963055USH1Gc.830T>C (p.Leu277Pro)
c.*429T>C (n.*429T>C)
c.521T>C (p.Leu174Pro)
17g.74920006A>TCA400963057USH1Gc.830T>A (p.Leu277His)
c.*429T>A (n.*429T>A)
c.521T>A (p.Leu174His)
17g.74920007G>ACA293984107USH1Gc.829C>T (p.Leu277Phe)
c.*428C>T (n.*428C>T)
c.520C>T (p.Leu174Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920007G>CCA400963061USH1Gc.829C>G (p.Leu277Val)
c.*428C>G (n.*428C>G)
c.520C>G (p.Leu174Val)
 gnomAD v4
17g.74920007G=CA2275255386USH1Gc.829C= (p.Leu277=)
c.*428C= (n.*428C=)
c.520C= (p.Leu174=)
17g.74920007G>TCA400963059USH1Gc.829C>A (p.Leu277Ile)
c.*428C>A (n.*428C>A)
c.520C>A (p.Leu174Ile)
17g.74920008G>ACA502036932USH1Gc.828C>T (p.Phe276=)
c.*427C>T (n.*427C>T)
c.519C>T (p.Phe173=)
17g.74920008G>CCA400963064USH1Gc.828C>G (p.Phe276Leu)
c.*427C>G (n.*427C>G)
c.519C>G (p.Phe173Leu)
17g.74920008G>TCA400963065USH1Gc.828C>A (p.Phe276Leu)
c.*427C>A (n.*427C>A)
c.519C>A (p.Phe173Leu)
17g.74920009A>CCA400963067USH1Gc.827T>G (p.Phe276Cys)
c.*426T>G (n.*426T>G)
c.518T>G (p.Phe173Cys)
17g.74920009A>GCA400963069USH1Gc.827T>C (p.Phe276Ser)
c.*426T>C (n.*426T>C)
c.518T>C (p.Phe173Ser)
17g.74920009A>TCA400963070USH1Gc.827T>A (p.Phe276Tyr)
c.*426T>A (n.*426T>A)
c.518T>A (p.Phe173Tyr)
17g.74920010A=CA2275255387USH1Gc.826T= (p.Phe276=)
c.*425T= (n.*425T=)
c.517T= (p.Phe173=)
17g.74920010A>CCA400963073USH1Gc.826T>G (p.Phe276Val)
c.*425T>G (n.*425T>G)
c.517T>G (p.Phe173Val)
17g.74920010A>GCA400963072USH1Gc.826T>C (p.Phe276Leu)
c.*425T>C (n.*425T>C)
c.517T>C (p.Phe173Leu)
 dbSNP gnomAD v4
17g.74920010A>TCA400963071USH1Gc.826T>A (p.Phe276Ile)
c.*425T>A (n.*425T>A)
c.517T>A (p.Phe173Ile)
17g.74920011C>ACA400963076USH1Gc.825G>T (p.Met275Ile)
c.*424G>T (n.*424G>T)
c.516G>T (p.Met172Ile)
 ClinVar dbSNP gnomAD v4
17g.74920011C=CA2275255388USH1Gc.825G= (p.Met275=)
c.*424G= (n.*424G=)
c.516G= (p.Met172=)
17g.74920011C>GCA400963078USH1Gc.825G>C (p.Met275Ile)
c.*424G>C (n.*424G>C)
c.516G>C (p.Met172Ile)
 gnomAD v4
17g.74920011C>TCA400963080USH1Gc.825G>A (p.Met275Ile)
c.*424G>A (n.*424G>A)
c.516G>A (p.Met172Ile)
17g.74920012A>CCA400963083USH1Gc.824T>G (p.Met275Arg)
c.*423T>G (n.*423T>G)
c.515T>G (p.Met172Arg)
17g.74920012A>GCA400963086USH1Gc.824T>C (p.Met275Thr)
c.*423T>C (n.*423T>C)
c.515T>C (p.Met172Thr)
17g.74920012A>TCA400963089USH1Gc.824T>A (p.Met275Lys)
c.*423T>A (n.*423T>A)
c.515T>A (p.Met172Lys)
17g.74920013T>ACA400963095USH1Gc.823A>T (p.Met275Leu)
c.*422A>T (n.*422A>T)
c.514A>T (p.Met172Leu)
17g.74920013T>CCA400963091USH1Gc.823A>G (p.Met275Val)
c.*422A>G (n.*422A>G)
c.514A>G (p.Met172Val)
17g.74920013T>GCA400963093USH1Gc.823A>C (p.Met275Leu)
c.*422A>C (n.*422A>C)
c.514A>C (p.Met172Leu)
17g.74920014G>ACA502036947USH1Gc.822C>T (p.Asp274=)
c.*421C>T (n.*421C>T)
c.513C>T (p.Asp171=)
17g.74920014G>CCA400963101USH1Gc.822C>G (p.Asp274Glu)
c.*421C>G (n.*421C>G)
c.513C>G (p.Asp171Glu)
17g.74920014G>TCA400963103USH1Gc.822C>A (p.Asp274Glu)
c.*421C>A (n.*421C>A)
c.513C>A (p.Asp171Glu)
 COSMIC
17g.74920014_74920015insAGGCA2639747806USH1Gc.822_823insCTC (p.Asp274_Met275insLeu)
c.*421_*422insCTC (n.*421_*422insCTC)
c.513_514insCTC (p.Asp171_Met172insLeu)
 gnomAD v4
17g.74920015T>ACA400963106USH1Gc.821A>T (p.Asp274Val)
c.*420A>T (n.*420A>T)
c.512A>T (p.Asp171Val)
17g.74920015T>CCA8753992USH1Gc.821A>G (p.Asp274Gly)
c.*420A>G (n.*420A>G)
c.512A>G (p.Asp171Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920015T>GCA400963110USH1Gc.821A>C (p.Asp274Ala)
c.*420A>C (n.*420A>C)
c.512A>C (p.Asp171Ala)
 gnomAD v4
17g.74920015T=CA2275255389USH1Gc.821A= (p.Asp274=)
c.*420A= (n.*420A=)
c.512A= (p.Asp171=)
17g.74920016C>ACA400963114USH1Gc.820G>T (p.Asp274Tyr)
c.*419G>T (n.*419G>T)
c.511G>T (p.Asp171Tyr)
17g.74920016C>GCA400963116USH1Gc.820G>C (p.Asp274His)
c.*419G>C (n.*419G>C)
c.511G>C (p.Asp171His)
17g.74920016C>TCA400963118USH1Gc.820G>A (p.Asp274Asn)
c.*419G>A (n.*419G>A)
c.511G>A (p.Asp171Asn)
 gnomAD v4
17g.74920017C>ACA502036949USH1Gc.819G>T (p.Arg273=)
c.*418G>T (n.*418G>T)
c.510G>T (p.Arg170=)
17g.74920017C>GCA502036953USH1Gc.819G>C (p.Arg273=)
c.*418G>C (n.*418G>C)
c.510G>C (p.Arg170=)
 gnomAD v4
17g.74920017C>TCA502036951USH1Gc.819G>A (p.Arg273=)
c.*418G>A (n.*418G>A)
c.510G>A (p.Arg170=)
17g.74920018C>ACA400963123USH1Gc.818G>T (p.Arg273Leu)
c.*417G>T (n.*417G>T)
c.509G>T (p.Arg170Leu)
17g.74920018C=CA2275255390USH1Gc.818G= (p.Arg273=)
c.*417G= (n.*417G=)
c.509G= (p.Arg170=)
17g.74920018C>GCA400963125USH1Gc.818G>C (p.Arg273Pro)
c.*417G>C (n.*417G>C)
c.509G>C (p.Arg170Pro)
 gnomAD v4
17g.74920018C>TCA8753993USH1Gc.818G>A (p.Arg273Gln)
c.*417G>A (n.*417G>A)
c.509G>A (p.Arg170Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920019G>ACA8753994USH1Gc.817C>T (p.Arg273Trp)
c.*416C>T (n.*416C>T)
c.508C>T (p.Arg170Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920019G>CCA400963132USH1Gc.817C>G (p.Arg273Gly)
c.*416C>G (n.*416C>G)
c.508C>G (p.Arg170Gly)
17g.74920019G=CA2275255391USH1Gc.817C= (p.Arg273=)
c.*416C= (n.*416C=)
c.508C= (p.Arg170=)
17g.74920019G>TCA502036955USH1Gc.817C>A (p.Arg273=)
c.*416C>A (n.*416C>A)
c.508C>A (p.Arg170=)
17g.74920020G>ACA502036958USH1Gc.816C>T (p.Leu272=)
c.*415C>T (n.*415C>T)
c.507C>T (p.Leu169=)
17g.74920020G>CCA502036961USH1Gc.816C>G (p.Leu272=)
c.*415C>G (n.*415C>G)
c.507C>G (p.Leu169=)
17g.74920020G>TCA502036963USH1Gc.816C>A (p.Leu272=)
c.*415C>A (n.*415C>A)
c.507C>A (p.Leu169=)
17g.74920021A>CCA400963136USH1Gc.815T>G (p.Leu272Arg)
c.*414T>G (n.*414T>G)
c.506T>G (p.Leu169Arg)
17g.74920021A>GCA400963140USH1Gc.815T>C (p.Leu272Pro)
c.*414T>C (n.*414T>C)
c.506T>C (p.Leu169Pro)
17g.74920021A>TCA400963138USH1Gc.815T>A (p.Leu272His)
c.*414T>A (n.*414T>A)
c.506T>A (p.Leu169His)
17g.74920022G>ACA293984121USH1Gc.814C>T (p.Leu272Phe)
c.*413C>T (n.*413C>T)
c.505C>T (p.Leu169Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920022G>CCA400963145USH1Gc.814C>G (p.Leu272Val)
c.*413C>G (n.*413C>G)
c.505C>G (p.Leu169Val)
17g.74920022G=CA2275255392USH1Gc.814C= (p.Leu272=)
c.*413C= (n.*413C=)
c.505C= (p.Leu169=)
17g.74920022G>TCA400963147USH1Gc.814C>A (p.Leu272Ile)
c.*413C>A (n.*413C>A)
c.505C>A (p.Leu169Ile)
17g.74920023C>ACA8753995USH1Gc.813G>T (p.Pro271=)
c.*412G>T (n.*412G>T)
c.504G>T (p.Pro168=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920023C=CA2275255393USH1Gc.813G= (p.Pro271=)
c.*412G= (n.*412G=)
c.504G= (p.Pro168=)
17g.74920023C>GCA502036968USH1Gc.813G>C (p.Pro271=)
c.*412G>C (n.*412G>C)
c.504G>C (p.Pro168=)
 gnomAD v4
17g.74920023C>TCA502036969USH1Gc.813G>A (p.Pro271=)
c.*412G>A (n.*412G>A)
c.504G>A (p.Pro168=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920023_74920024delinsCGCA2275255394USH1Gc.812_813delinsCG (p.Pro271=)
c.*411_*412delinsCG (n.*411_*412delinsCG)
c.503_504delinsCG (p.Pro168=)
17g.74920024G>ACA400963153USH1Gc.812C>T (p.Pro271Leu)
c.*411C>T (n.*411C>T)
c.503C>T (p.Pro168Leu)
 gnomAD v4
17g.74920024G>CCA400963154USH1Gc.812C>G (p.Pro271Arg)
c.*411C>G (n.*411C>G)
c.503C>G (p.Pro168Arg)
 gnomAD v4
17g.74920024G>TCA400963157USH1Gc.812C>A (p.Pro271Gln)
c.*411C>A (n.*411C>A)
c.503C>A (p.Pro168Gln)
17g.74920027delCA658824960USH1Gc.812del (p.Pro271ArgfsTer?)
c.*411del (n.*411del)
c.503del (p.Pro168ArgfsTer?)
 ClinVar dbSNP
17g.74920025G>ACA400963162USH1Gc.811C>T (p.Pro271Ser)
c.*410C>T (n.*410C>T)
c.502C>T (p.Pro168Ser)
 COSMIC
17g.74920025G>CCA400963164USH1Gc.811C>G (p.Pro271Ala)
c.*410C>G (n.*410C>G)
c.502C>G (p.Pro168Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.74920025G=CA2275255395USH1Gc.811C= (p.Pro271=)
c.*410C= (n.*410C=)
c.502C= (p.Pro168=)
17g.74920025G>TCA400963167USH1Gc.811C>A (p.Pro271Thr)
c.*410C>A (n.*410C>A)
c.502C>A (p.Pro168Thr)
17g.74920026G>ACA502036977USH1Gc.810C>T (p.Ala270=)
c.*409C>T (n.*409C>T)
c.501C>T (p.Ala167=)
17g.74920026G>CCA502036979USH1Gc.810C>G (p.Ala270=)
c.*409C>G (n.*409C>G)
c.501C>G (p.Ala167=)
17g.74920026G>TCA502036973USH1Gc.810C>A (p.Ala270=)
c.*409C>A (n.*409C>A)
c.501C>A (p.Ala167=)
17g.74920027G>ACA8753996USH1Gc.809C>T (p.Ala270Val)
c.*408C>T (n.*408C>T)
c.500C>T (p.Ala167Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920027G>CCA400963170USH1Gc.809C>G (p.Ala270Gly)
c.*408C>G (n.*408C>G)
c.500C>G (p.Ala167Gly)
17g.74920027G=CA2275255396USH1Gc.809C= (p.Ala270=)
c.*408C= (n.*408C=)
c.500C= (p.Ala167=)
17g.74920027G>TCA8753997USH1Gc.809C>A (p.Ala270Asp)
c.*408C>A (n.*408C>A)
c.500C>A (p.Ala167Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920028C>ACA400963174USH1Gc.808G>T (p.Ala270Ser)
c.*407G>T (n.*407G>T)
c.499G>T (p.Ala167Ser)
17g.74920028C>GCA400963179USH1Gc.808G>C (p.Ala270Pro)
c.*407G>C (n.*407G>C)
c.499G>C (p.Ala167Pro)
17g.74920028C>TCA400963176USH1Gc.808G>A (p.Ala270Thr)
c.*407G>A (n.*407G>A)
c.499G>A (p.Ala167Thr)
 gnomAD v4
17g.74920029T>ACA502036397USH1Gc.807A>T (p.Arg269=)
c.*406A>T (n.*406A>T)
c.498A>T (p.Arg166=)
17g.74920029T>CCA502036398USH1Gc.807A>G (p.Arg269=)
c.*406A>G (n.*406A>G)
c.498A>G (p.Arg166=)
17g.74920029T>GCA502036399USH1Gc.807A>C (p.Arg269=)
c.*406A>C (n.*406A>C)
c.498A>C (p.Arg166=)
17g.74920030C>ACA400963181USH1Gc.806G>T (p.Arg269Leu)
c.*405G>T (n.*405G>T)
c.497G>T (p.Arg166Leu)
17g.74920030C=CA2275255397USH1Gc.806G= (p.Arg269=)
c.*405G= (n.*405G=)
c.497G= (p.Arg166=)
17g.74920030C>GCA400963183USH1Gc.806G>C (p.Arg269Pro)
c.*405G>C (n.*405G>C)
c.497G>C (p.Arg166Pro)
17g.74920030C>TCA8753998USH1Gc.806G>A (p.Arg269Gln)
c.*405G>A (n.*405G>A)
c.497G>A (p.Arg166Gln)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
17g.74920031G>ACA400963187USH1Gc.805C>T (p.Arg269Ter)
c.*404C>T (n.*404C>T)
c.496C>T (p.Arg166Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920031G>CCA400963189USH1Gc.805C>G (p.Arg269Gly)
c.*404C>G (n.*404C>G)
c.496C>G (p.Arg166Gly)
17g.74920031G=CA2275255398USH1Gc.805C= (p.Arg269=)
c.*404C= (n.*404C=)
c.496C= (p.Arg166=)
17g.74920031G>TCA502036401USH1Gc.805C>A (p.Arg269=)
c.*404C>A (n.*404C>A)
c.496C>A (p.Arg166=)
17g.74920032G>ACA502036402USH1Gc.804C>T (p.Gly268=)
c.*403C>T (n.*403C>T)
c.495C>T (p.Gly165=)
17g.74920032G>CCA502036403USH1Gc.804C>G (p.Gly268=)
c.*403C>G (n.*403C>G)
c.495C>G (p.Gly165=)
17g.74920032G>TCA502036404USH1Gc.804C>A (p.Gly268=)
c.*403C>A (n.*403C>A)
c.495C>A (p.Gly165=)
 gnomAD v4
17g.74920033C>ACA400963192USH1Gc.803G>T (p.Gly268Val)
c.*402G>T (n.*402G>T)
c.494G>T (p.Gly165Val)
17g.74920033C=CA2275255399USH1Gc.803G= (p.Gly268=)
c.*402G= (n.*402G=)
c.494G= (p.Gly165=)
17g.74920033C>GCA400963195USH1Gc.803G>C (p.Gly268Ala)
c.*402G>C (n.*402G>C)
c.494G>C (p.Gly165Ala)
 dbSNP gnomAD v4
17g.74920033C>TCA400963197USH1Gc.803G>A (p.Gly268Asp)
c.*402G>A (n.*402G>A)
c.494G>A (p.Gly165Asp)
17g.74920034C>ACA400963200USH1Gc.802G>T (p.Gly268Cys)
c.*401G>T (n.*401G>T)
c.493G>T (p.Gly165Cys)
17g.74920034C>GCA400963203USH1Gc.802G>C (p.Gly268Arg)
c.*401G>C (n.*401G>C)
c.493G>C (p.Gly165Arg)
17g.74920034C>TCA400963206USH1Gc.802G>A (p.Gly268Ser)
c.*401G>A (n.*401G>A)
c.493G>A (p.Gly165Ser)
17g.74920035C>ACA400963210USH1Gc.801G>T (p.Trp267Cys)
c.*400G>T (n.*400G>T)
c.492G>T (p.Trp164Cys)
17g.74920035C=CA2275255400USH1Gc.801G= (p.Trp267=)
c.*400G= (n.*400G=)
c.492G= (p.Trp164=)
17g.74920035C>GCA400963214USH1Gc.801G>C (p.Trp267Cys)
c.*400G>C (n.*400G>C)
c.492G>C (p.Trp164Cys)
17g.74920035C>TCA400963209USH1Gc.801G>A (p.Trp267Ter)
c.*400G>A (n.*400G>A)
c.492G>A (p.Trp164Ter)
 dbSNP gnomAD v2
17g.74920036C>ACA400963217USH1Gc.800G>T (p.Trp267Leu)
c.*399G>T (n.*399G>T)
c.491G>T (p.Trp164Leu)
17g.74920036C>GCA400963221USH1Gc.800G>C (p.Trp267Ser)
c.*399G>C (n.*399G>C)
c.491G>C (p.Trp164Ser)
17g.74920036C>TCA400963219USH1Gc.800G>A (p.Trp267Ter)
c.*399G>A (n.*399G>A)
c.491G>A (p.Trp164Ter)
17g.74920037A>CCA400963225USH1Gc.799T>G (p.Trp267Gly)
c.*398T>G (n.*398T>G)
c.490T>G (p.Trp164Gly)
17g.74920037A>GCA400963228USH1Gc.799T>C (p.Trp267Arg)
c.*398T>C (n.*398T>C)
c.490T>C (p.Trp164Arg)
 ClinVar
17g.74920037A>TCA400963227USH1Gc.799T>A (p.Trp267Arg)
c.*398T>A (n.*398T>A)
c.490T>A (p.Trp164Arg)
17g.74920038C>ACA400963232USH1Gc.798G>T (p.Glu266Asp)
c.*397G>T (n.*397G>T)
c.489G>T (p.Glu163Asp)
17g.74920038C>GCA400963235USH1Gc.798G>C (p.Glu266Asp)
c.*397G>C (n.*397G>C)
c.489G>C (p.Glu163Asp)
 gnomAD v4
17g.74920038C>TCA502036408USH1Gc.798G>A (p.Glu266=)
c.*397G>A (n.*397G>A)
c.489G>A (p.Glu163=)
17g.74920039T>ACA400963238USH1Gc.797A>T (p.Glu266Val)
c.*396A>T (n.*396A>T)
c.488A>T (p.Glu163Val)
 gnomAD v4
17g.74920039T>CCA400963240USH1Gc.797A>G (p.Glu266Gly)
c.*396A>G (n.*396A>G)
c.488A>G (p.Glu163Gly)
 gnomAD v4
17g.74920039T>GCA400963241USH1Gc.797A>C (p.Glu266Ala)
c.*396A>C (n.*396A>C)
c.488A>C (p.Glu163Ala)
17g.74920040C>ACA400963245USH1Gc.796G>T (p.Glu266Ter)
c.*395G>T (n.*395G>T)
c.487G>T (p.Glu163Ter)
 gnomAD v4
17g.74920040C=CA2275255401USH1Gc.796G= (p.Glu266=)
c.*395G= (n.*395G=)
c.487G= (p.Glu163=)
17g.74920040C>GCA8753999USH1Gc.796G>C (p.Glu266Gln)
c.*395G>C (n.*395G>C)
c.487G>C (p.Glu163Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920040C>TCA400963248USH1Gc.796G>A (p.Glu266Lys)
c.*395G>A (n.*395G>A)
c.487G>A (p.Glu163Lys)
 gnomAD v4
17g.74920041C>ACA400963252USH1Gc.795G>T (p.Lys265Asn)
c.*394G>T (n.*394G>T)
c.486G>T (p.Lys162Asn)
17g.74920041C=CA2275255402USH1Gc.795G= (p.Lys265=)
c.*394G= (n.*394G=)
c.486G= (p.Lys162=)
17g.74920041C>GCA400963253USH1Gc.795G>C (p.Lys265Asn)
c.*394G>C (n.*394G>C)
c.486G>C (p.Lys162Asn)
17g.74920041C>TCA8754000USH1Gc.795G>A (p.Lys265=)
c.*394G>A (n.*394G>A)
c.486G>A (p.Lys162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched