Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.215675498G>ACA344850984USH2Ac.12413C>T (p.Ala4138Val)
gnomAD v4
1g.215675498G>CCA344850982USH2Ac.12413C>G (p.Ala4138Gly)
1g.215675498G>TCA344850983USH2Ac.12413C>A (p.Ala4138Glu)
1g.215675499C>ACA344850986USH2Ac.12412G>T (p.Ala4138Ser)
1g.215675499C=CA1220373951USH2Ac.12412G= (p.Ala4138=)
1g.215675499C>GCA344850988USH2Ac.12412G>C (p.Ala4138Pro)
1g.215675499C>TCA344850990USH2Ac.12412G>A (p.Ala4138Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.215675500T>ACA344850991USH2Ac.12411A>T (p.Arg4137Ser)
1g.215675500T>CCA423311670USH2Ac.12411A>G (p.Arg4137=)
gnomAD v4
1g.215675500T>GCA344850992USH2Ac.12411A>C (p.Arg4137Ser)
1g.215675501C>ACA344850994USH2Ac.12410G>T (p.Arg4137Ile)
1g.215675501C>GCA344850997USH2Ac.12410G>C (p.Arg4137Thr)
gnomAD v4
1g.215675501C>TCA344850996USH2Ac.12410G>A (p.Arg4137Lys)
gnomAD v4
1g.215675501_215675502delinsCTCA1220373952USH2Ac.12409_12410delinsAG (p.Arg4137=)
1g.215675502delCA916082114USH2Ac.12409del (p.Arg4137GlufsTer30)
ClinVar dbSNP
1g.215675502T>ACA344850999USH2Ac.12409A>T (p.Arg4137Ter)
1g.215675502T>CCA344851000USH2Ac.12409A>G (p.Arg4137Gly)
ClinVar
1g.215675502T>GCA423311674USH2Ac.12409A>C (p.Arg4137=)
ClinVar gnomAD v4
1g.215675503G>ACA1393470USH2Ac.12408C>T (p.Thr4136=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675503G>CCA423311677USH2Ac.12408C>G (p.Thr4136=)
1g.215675503G=CA1220373953USH2Ac.12408C= (p.Thr4136=)
1g.215675503G>TCA423311679USH2Ac.12408C>A (p.Thr4136=)
dbSNP
1g.215675504G>ACA344851002USH2Ac.12407C>T (p.Thr4136Ile)
ClinVar dbSNP gnomAD v4
1g.215675504G>CCA344851004USH2Ac.12407C>G (p.Thr4136Ser)
1g.215675504G=CA1220373954USH2Ac.12407C= (p.Thr4136=)
1g.215675504G>TCA344851005USH2Ac.12407C>A (p.Thr4136Asn)
1g.215675505T>ACA344851007USH2Ac.12406A>T (p.Thr4136Ser)
1g.215675505T>CCA344851009USH2Ac.12406A>G (p.Thr4136Ala)
1g.215675505T>GCA344851010USH2Ac.12406A>C (p.Thr4136Pro)
dbSNP
1g.215675505T=CA1220373955USH2Ac.12406A= (p.Thr4136=)
1g.215675506G>ACA423311686USH2Ac.12405C>T (p.Cys4135=)
1g.215675506G>CCA344851011USH2Ac.12405C>G (p.Cys4135Trp)
1g.215675506G>TCA344851012USH2Ac.12405C>A (p.Cys4135Ter)
1g.215675507C>ACA344851013USH2Ac.12404G>T (p.Cys4135Phe)
1g.215675507C>GCA344851016USH2Ac.12404G>C (p.Cys4135Ser)
1g.215675507C>TCA344851014USH2Ac.12404G>A (p.Cys4135Tyr)
1g.215675508A=CA1220373956USH2Ac.12403T= (p.Cys4135=)
1g.215675508A>CCA344851017USH2Ac.12403T>G (p.Cys4135Gly)
ClinVar dbSNP
1g.215675508A>GCA344851019USH2Ac.12403T>C (p.Cys4135Arg)
gnomAD v4
1g.215675508A>TCA344851020USH2Ac.12403T>A (p.Cys4135Ser)
1g.215675509G>ACA423311696USH2Ac.12402C>T (p.Ala4134=)
1g.215675509G>CCA423311697USH2Ac.12402C>G (p.Ala4134=)
ClinVar dbSNP
1g.215675509G=CA1220373957USH2Ac.12402C= (p.Ala4134=)
1g.215675509G>TCA423311699USH2Ac.12402C>A (p.Ala4134=)
1g.215675510G>ACA1393471USH2Ac.12401C>T (p.Ala4134Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675510G>CCA344851022USH2Ac.12401C>G (p.Ala4134Gly)
1g.215675510G=CA1220373958USH2Ac.12401C= (p.Ala4134=)
1g.215675510G>TCA344851024USH2Ac.12401C>A (p.Ala4134Asp)
1g.215675511C>ACA344851029USH2Ac.12400G>T (p.Ala4134Ser)
dbSNP
1g.215675511C>GCA344851027USH2Ac.12400G>C (p.Ala4134Pro)
1g.215675511C>TCA344851026USH2Ac.12400G>A (p.Ala4134Thr)
1g.215675512C>ACA344851030USH2Ac.12399G>T (p.Glu4133Asp)
1g.215675512C=CA1142362401USH2Ac.12399G= (p.Glu4133=)
1g.215675512C>GCA344851032USH2Ac.12399G>C (p.Glu4133Asp)
1g.215675512C>TCA1393472USH2Ac.12399G>A (p.Glu4133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675513T>ACA344851033USH2Ac.12398A>T (p.Glu4133Val)
ClinVar dbSNP gnomAD v4
1g.215675513T>CCA344851034USH2Ac.12398A>G (p.Glu4133Gly)
1g.215675513T>GCA344851035USH2Ac.12398A>C (p.Glu4133Ala)
1g.215675513T=CA1220373959USH2Ac.12398A= (p.Glu4133=)
1g.215675514C>ACA344851037USH2Ac.12397G>T (p.Glu4133Ter)
1g.215675514C>GCA344851040USH2Ac.12397G>C (p.Glu4133Gln)
1g.215675514C>TCA344851038USH2Ac.12397G>A (p.Glu4133Lys)
1g.215675515C>ACA423311711USH2Ac.12396G>T (p.Leu4132=)
1g.215675515C>GCA423311716USH2Ac.12396G>C (p.Leu4132=)
1g.215675515C>TCA423311718USH2Ac.12396G>A (p.Leu4132=)
1g.215675516A=CA1220373960USH2Ac.12395T= (p.Leu4132=)
1g.215675516A>CCA344851042USH2Ac.12395T>G (p.Leu4132Arg)
1g.215675516A>GCA1393473USH2Ac.12395T>C (p.Leu4132Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675516A>TCA1393474USH2Ac.12395T>A (p.Leu4132Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675516_215675517delinsAGCA1220373961USH2Ac.12394_12395delinsCT (p.Leu4132=)
1g.215675517G>ACA423311722USH2Ac.12394C>T (p.Leu4132=)
ClinVar gnomAD v4
1g.215675517G>CCA344851045USH2Ac.12394C>G (p.Leu4132Val)
1g.215675517G>TCA344851047USH2Ac.12394C>A (p.Leu4132Met)
1g.215675519delCA658822646USH2Ac.12394del (p.Leu4132TrpfsTer?)
ClinVar dbSNP
1g.215675518G>ACA1393475USH2Ac.12393C>T (p.Thr4131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675518G>CCA423311728USH2Ac.12393C>G (p.Thr4131=)
1g.215675518G=CA1220373962USH2Ac.12393C= (p.Thr4131=)
1g.215675518G>TCA423311729USH2Ac.12393C>A (p.Thr4131=)
1g.215675519G>ACA1393476USH2Ac.12392C>T (p.Thr4131Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675519G>CCA344851050USH2Ac.12392C>G (p.Thr4131Ser)
1g.215675519G=CA1142316094USH2Ac.12392C= (p.Thr4131=)
1g.215675519G>TCA344851052USH2Ac.12392C>A (p.Thr4131Asn)
gnomAD v4
1g.215675520T>ACA344851054USH2Ac.12391A>T (p.Thr4131Ser)
1g.215675520T>CCA344851055USH2Ac.12391A>G (p.Thr4131Ala)
1g.215675520T>GCA344851056USH2Ac.12391A>C (p.Thr4131Pro)
1g.215675521C>ACA423311742USH2Ac.12390G>T (p.Leu4130=)
1g.215675521C>GCA423311740USH2Ac.12390G>C (p.Leu4130=)
1g.215675521C>TCA423311738USH2Ac.12390G>A (p.Leu4130=)
1g.215675522A=CA1220373963USH2Ac.12389T= (p.Leu4130=)
1g.215675522A>CCA344851059USH2Ac.12389T>G (p.Leu4130Arg)
1g.215675522A>GCA344851062USH2Ac.12389T>C (p.Leu4130Pro)
1g.215675522A>TCA344851060USH2Ac.12389T>A (p.Leu4130Gln)
dbSNP gnomAD v3 gnomAD v4
1g.215675523delCA2586968187USH2Ac.12388del (p.Leu4130Ter)
1g.215675523G>ACA423311748USH2Ac.12388C>T (p.Leu4130=)
1g.215675523G>CCA344851063USH2Ac.12388C>G (p.Leu4130Val)
dbSNP gnomAD v2 gnomAD v4
1g.215675523G=CA1220373964USH2Ac.12388C= (p.Leu4130=)
1g.215675523G>TCA344851064USH2Ac.12388C>A (p.Leu4130Met)
1g.215675524T>ACA1393477USH2Ac.12387A>T (p.Thr4129=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675524T>CCA423311758USH2Ac.12387A>G (p.Thr4129=)
1g.215675524T>GCA423311755USH2Ac.12387A>C (p.Thr4129=)
1g.215675524T=CA1149112130USH2Ac.12387A= (p.Thr4129=)
1g.215675525G>ACA344851065USH2Ac.12386C>T (p.Thr4129Ile)
gnomAD v4
1g.215675525G>CCA344851066USH2Ac.12386C>G (p.Thr4129Arg)
1g.215675525G>TCA344851068USH2Ac.12386C>A (p.Thr4129Lys)
1g.215675526T>ACA344851070USH2Ac.12385A>T (p.Thr4129Ser)
1g.215675526T>CCA344851072USH2Ac.12385A>G (p.Thr4129Ala)
dbSNP
1g.215675526T>GCA344851073USH2Ac.12385A>C (p.Thr4129Pro)
gnomAD v4
1g.215675526T=CA1220373965USH2Ac.12385A= (p.Thr4129=)
1g.215675527G>ACA37413190USH2Ac.12384C>T (p.Tyr4128=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.215675527G>CCA344851075USH2Ac.12384C>G (p.Tyr4128Ter)
1g.215675527G=CA1220373966USH2Ac.12384C= (p.Tyr4128=)
1g.215675527G>TCA344851077USH2Ac.12384C>A (p.Tyr4128Ter)
gnomAD v4
1g.215675528T>ACA344851082USH2Ac.12383A>T (p.Tyr4128Phe)
1g.215675528T>CCA344851081USH2Ac.12383A>G (p.Tyr4128Cys)
ClinVar dbSNP gnomAD v4
1g.215675528T>GCA344851079USH2Ac.12383A>C (p.Tyr4128Ser)
1g.215675529A>CCA344851083USH2Ac.12382T>G (p.Tyr4128Asp)
1g.215675529A>GCA344851084USH2Ac.12382T>C (p.Tyr4128His)
1g.215675529A>TCA344851085USH2Ac.12382T>A (p.Tyr4128Asn)
1g.215675533_215675534delCA2580611240USH2Ac.12381_12382del (p.Tyr4128HisfsTer24)
ClinVar dbSNP
1g.215675530G>ACA423311773USH2Ac.12381C>T (p.Leu4127=)
1g.215675530G>CCA423311775USH2Ac.12381C>G (p.Leu4127=)
1g.215675530G>TCA423311774USH2Ac.12381C>A (p.Leu4127=)
1g.215675531A=CA1220373967USH2Ac.12380T= (p.Leu4127=)
1g.215675531A>CCA344851087USH2Ac.12380T>G (p.Leu4127Arg)
dbSNP gnomAD v4
1g.215675531A>GCA344851089USH2Ac.12380T>C (p.Leu4127Pro)
1g.215675531A>TCA344851091USH2Ac.12380T>A (p.Leu4127His)
1g.215675535_215675559dupCA2650500678USH2Ac.12356_12380dup (p.Tyr4128ProfsTer33)
gnomAD v4
1g.215675532G>ACA344851092USH2Ac.12379C>T (p.Leu4127Phe)
1g.215675532G>CCA344851094USH2Ac.12379C>G (p.Leu4127Val)
dbSNP gnomAD v3 gnomAD v4
1g.215675532G=CA1220373968USH2Ac.12379C= (p.Leu4127=)
1g.215675532G>TCA344851096USH2Ac.12379C>A (p.Leu4127Ile)
COSMIC COSMIC
1g.215675533A=CA1220373969USH2Ac.12378T= (p.Thr4126=)
1g.215675533A>CCA423311785USH2Ac.12378T>G (p.Thr4126=)
ClinVar dbSNP
1g.215675533A>GCA423311786USH2Ac.12378T>C (p.Thr4126=)
1g.215675533A>TCA423311787USH2Ac.12378T>A (p.Thr4126=)
1g.215675533_215675535delinsTTACA2586968189USH2Ac.12376_12378delinsTAA (p.Thr4126Ter)
1g.215675534G>ACA344851098USH2Ac.12377C>T (p.Thr4126Ile)
1g.215675534G>CCA344851099USH2Ac.12377C>G (p.Thr4126Ser)
gnomAD v4
1g.215675534G=CA1220373970USH2Ac.12377C= (p.Thr4126=)
1g.215675534G>TCA344851100USH2Ac.12377C>A (p.Thr4126Asn)
1g.215675535T>ACA344851102USH2Ac.12376A>T (p.Thr4126Ser)
1g.215675535T>CCA344851104USH2Ac.12376A>G (p.Thr4126Ala)
gnomAD v4
1g.215675535T>GCA344851103USH2Ac.12376A>C (p.Thr4126Pro)
1g.215675535dupCA731337622USH2Ac.12376dup (p.Thr4126AsnfsTer27)
dbSNP gnomAD v3 gnomAD v4
1g.215675536G>ACA423311790USH2Ac.12375C>T (p.Phe4125=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.215675536G>CCA344851106USH2Ac.12375C>G (p.Phe4125Leu)
1g.215675536G=CA1220373972USH2Ac.12375C= (p.Phe4125=)
1g.215675536G>TCA344851107USH2Ac.12375C>A (p.Phe4125Leu)
1g.215675536_215675537delinsGACA1220373971USH2Ac.12374_12375delinsTC (p.Phe4125=)
1g.215675537A>CCA344851109USH2Ac.12374T>G (p.Phe4125Cys)
1g.215675537A>GCA344851112USH2Ac.12374T>C (p.Phe4125Ser)
1g.215675537A>TCA344851110USH2Ac.12374T>A (p.Phe4125Tyr)
1g.215675539delCA529002115USH2Ac.12374del (p.Phe4125SerfsTer6)
dbSNP gnomAD v2 gnomAD v4
1g.215675538A>CCA344851114USH2Ac.12373T>G (p.Phe4125Val)
1g.215675538A>GCA344851117USH2Ac.12373T>C (p.Phe4125Leu)
1g.215675538A>TCA344851115USH2Ac.12373T>A (p.Phe4125Ile)
1g.215675539A>CCA423311805USH2Ac.12372T>G (p.Pro4124=)
1g.215675539A>GCA423311811USH2Ac.12372T>C (p.Pro4124=)
1g.215675539A>TCA423311813USH2Ac.12372T>A (p.Pro4124=)
1g.215675539_215675540insAGCTTCA2532804992USH2Ac.12371_12372insAAGCT (p.Phe4125SerfsTer8)
1g.215675540G>ACA1393478USH2Ac.12371C>T (p.Pro4124Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675540G>CCA344851119USH2Ac.12371C>G (p.Pro4124Arg)
1g.215675540G=CA1220373973USH2Ac.12371C= (p.Pro4124=)
1g.215675540G>TCA344851120USH2Ac.12371C>A (p.Pro4124His)
1g.215675541G>ACA344851122USH2Ac.12370C>T (p.Pro4124Ser)
1g.215675541G>CCA344851123USH2Ac.12370C>G (p.Pro4124Ala)
1g.215675541G>TCA344851125USH2Ac.12370C>A (p.Pro4124Thr)
1g.215675542A=CA1220373974USH2Ac.12369T= (p.Asp4123=)
1g.215675542A>CCA344851126USH2Ac.12369T>G (p.Asp4123Glu)
1g.215675542A>GCA1393479USH2Ac.12369T>C (p.Asp4123=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675542A>TCA344851128USH2Ac.12369T>A (p.Asp4123Glu)
1g.215675543T>ACA344851130USH2Ac.12368A>T (p.Asp4123Val)
1g.215675543T>CCA344851132USH2Ac.12368A>G (p.Asp4123Gly)
gnomAD v4
1g.215675543T>GCA344851134USH2Ac.12368A>C (p.Asp4123Ala)
1g.215675544C>ACA344851137USH2Ac.12367G>T (p.Asp4123Tyr)
1g.215675544C=CA1220373975USH2Ac.12367G= (p.Asp4123=)
1g.215675544C>GCA344851135USH2Ac.12367G>C (p.Asp4123His)
dbSNP
1g.215675544C>TCA344851136USH2Ac.12367G>A (p.Asp4123Asn)
1g.215675545C>ACA423311822USH2Ac.12366G>T (p.Leu4122=)
1g.215675545C>GCA423311825USH2Ac.12366G>C (p.Leu4122=)
1g.215675545C>TCA423311824USH2Ac.12366G>A (p.Leu4122=)
1g.215675546A>CCA344851139USH2Ac.12365T>G (p.Leu4122Arg)
1g.215675546A>GCA344851141USH2Ac.12365T>C (p.Leu4122Pro)
1g.215675546A>TCA344851143USH2Ac.12365T>A (p.Leu4122Gln)
1g.215675547G>ACA423311831USH2Ac.12364C>T (p.Leu4122=)
dbSNP gnomAD v4
1g.215675547G>CCA344851144USH2Ac.12364C>G (p.Leu4122Val)
1g.215675547G=CA1220373976USH2Ac.12364C= (p.Leu4122=)
1g.215675547G>TCA344851145USH2Ac.12364C>A (p.Leu4122Met)
dbSNP
1g.215675548G>ACA423311833USH2Ac.12363C>T (p.Arg4121=)
1g.215675548G>CCA423311834USH2Ac.12363C>G (p.Arg4121=)
1g.215675548G>TCA423311836USH2Ac.12363C>A (p.Arg4121=)
1g.215675549C>ACA344851147USH2Ac.12362G>T (p.Arg4121Leu)
dbSNP
1g.215675549C=CA1144229172USH2Ac.12362G= (p.Arg4121=)
1g.215675549C>GCA344851149USH2Ac.12362G>C (p.Arg4121Pro)
1g.215675549C>TCA143288USH2Ac.12362G>A (p.Arg4121His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.215675550G>ACA1393480USH2Ac.12361C>T (p.Arg4121Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.215675550G>CCA344851151USH2Ac.12361C>G (p.Arg4121Gly)
1g.215675550G=CA1220373977USH2Ac.12361C= (p.Arg4121=)
1g.215675550G>TCA37413212USH2Ac.12361C>A (p.Arg4121Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.215675550_215675551delCA2747717664USH2Ac.12360_12361del (p.Arg4121ProfsTer?)
1g.215675551G>ACA1393481USH2Ac.12360C>T (p.Arg4120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675551G>CCA423311849USH2Ac.12360C>G (p.Arg4120=)
1g.215675551G=CA1220373978USH2Ac.12360C= (p.Arg4120=)
1g.215675551G>TCA423311843USH2Ac.12360C>A (p.Arg4120=)
1g.215675552_215675553dupCA731337656USH2Ac.12359_12360dup (p.Arg4121AlafsTer11)
dbSNP gnomAD v3 gnomAD v4
1g.215675552C>ACA344851156USH2Ac.12359G>T (p.Arg4120Leu)
1g.215675552C=CA1142963843USH2Ac.12359G= (p.Arg4120=)
1g.215675552C>GCA344851153USH2Ac.12359G>C (p.Arg4120Pro)
1g.215675552C>TCA1393482USH2Ac.12359G>A (p.Arg4120His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.215675553G>ACA179517USH2Ac.12358C>T (p.Arg4120Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675553G>CCA344851161USH2Ac.12358C>G (p.Arg4120Gly)
1g.215675553G=CA1148224965USH2Ac.12358C= (p.Arg4120=)
1g.215675553G>TCA344851162USH2Ac.12358C>A (p.Arg4120Ser)
gnomAD v4
1g.215675554delCA2747717665USH2Ac.12358del (p.Arg4120AlafsTer11)
1g.215675554G>ACA423311857USH2Ac.12357C>T (p.Phe4119=)
ClinVar gnomAD v4
1g.215675554G>CCA344851163USH2Ac.12357C>G (p.Phe4119Leu)
1g.215675554G>TCA344851164USH2Ac.12357C>A (p.Phe4119Leu)
COSMIC COSMIC
1g.215675555A=CA1220373979USH2Ac.12356T= (p.Phe4119=)
1g.215675555A>CCA344851165USH2Ac.12356T>G (p.Phe4119Cys)
1g.215675555A>GCA1393483USH2Ac.12356T>C (p.Phe4119Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675555A>TCA344851166USH2Ac.12356T>A (p.Phe4119Tyr)
1g.215675556A>CCA344851168USH2Ac.12355T>G (p.Phe4119Val)
1g.215675556A>GCA344851169USH2Ac.12355T>C (p.Phe4119Leu)
1g.215675556A>TCA344851170USH2Ac.12355T>A (p.Phe4119Ile)
1g.215675557G>ACA423311868USH2Ac.12354C>T (p.Leu4118=)
1g.215675557G>CCA423311870USH2Ac.12354C>G (p.Leu4118=)
ClinVar dbSNP
1g.215675557G>TCA423311872USH2Ac.12354C>A (p.Leu4118=)
1g.215675558A>CCA344851172USH2Ac.12353T>G (p.Leu4118Arg)
1g.215675558A>GCA344851175USH2Ac.12353T>C (p.Leu4118Pro)
1g.215675558A>TCA344851174USH2Ac.12353T>A (p.Leu4118His)
1g.215675559G>ACA344851177USH2Ac.12352C>T (p.Leu4118Phe)
1g.215675559G>CCA344851178USH2Ac.12352C>G (p.Leu4118Val)
1g.215675559G>TCA344851179USH2Ac.12352C>A (p.Leu4118Ile)
1g.215675559_215675560delinsGACA1220373980USH2Ac.12351_12352delinsTC (p.Phe4117=)
1g.215675560A>CCA344851181USH2Ac.12351T>G (p.Phe4117Leu)
1g.215675560A>GCA423311877USH2Ac.12351T>C (p.Phe4117=)
ClinVar
1g.215675560A>TCA344851183USH2Ac.12351T>A (p.Phe4117Leu)
1g.215675562delCA529002116USH2Ac.12351del (p.Leu4118SerfsTer13)
dbSNP gnomAD v2 gnomAD v4
1g.215675561A=CA1220373981USH2Ac.12350T= (p.Phe4117=)
1g.215675561A>CCA344851185USH2Ac.12350T>G (p.Phe4117Cys)
1g.215675561A>GCA344851186USH2Ac.12350T>C (p.Phe4117Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.215675561A>TCA344851188USH2Ac.12350T>A (p.Phe4117Tyr)
1g.215675561_215675562insGCA2558290317USH2Ac.12349_12350insC (p.Phe4117SerfsTer?)
1g.215675562A=CA1220373982USH2Ac.12349T= (p.Phe4117=)
1g.215675562A>CCA344851190USH2Ac.12349T>G (p.Phe4117Val)
1g.215675562A>GCA1393484USH2Ac.12349T>C (p.Phe4117Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675562A>TCA344851192USH2Ac.12349T>A (p.Phe4117Ile)
1g.215675563C>ACA344851193USH2Ac.12348G>T (p.Gln4116His)
1g.215675563C=CA1220373983USH2Ac.12348G= (p.Gln4116=)
1g.215675563C>GCA1393485USH2Ac.12348G>C (p.Gln4116His)
dbSNP ExAC gnomAD v4
1g.215675563C>TCA423311884USH2Ac.12348G>A (p.Gln4116=)
1g.215675563_215675568delCA2747717666USH2Ac.12343_12348del (p.Arg4115_Gln4116del)
1g.215675564T>ACA344851196USH2Ac.12347A>T (p.Gln4116Leu)
1g.215675564T>CCA344851197USH2Ac.12347A>G (p.Gln4116Arg)
1g.215675564T>GCA344851199USH2Ac.12347A>C (p.Gln4116Pro)
dbSNP gnomAD v4
1g.215675564T=CA1220373984USH2Ac.12347A= (p.Gln4116=)
1g.215675565G>ACA344851201USH2Ac.12346C>T (p.Gln4116Ter)
1g.215675565G>CCA344851202USH2Ac.12346C>G (p.Gln4116Glu)
1g.215675565G>TCA344851203USH2Ac.12346C>A (p.Gln4116Lys)
1g.215675566A>CCA423311894USH2Ac.12345T>G (p.Arg4115=)
1g.215675566A>GCA423311893USH2Ac.12345T>C (p.Arg4115=)
ClinVar dbSNP
1g.215675566A>TCA423311895USH2Ac.12345T>A (p.Arg4115=)
1g.215675567C>ACA344851207USH2Ac.12344G>T (p.Arg4115Leu)
1g.215675567C=CA1220373985USH2Ac.12344G= (p.Arg4115=)
1g.215675567C>GCA344851205USH2Ac.12344G>C (p.Arg4115Pro)
1g.215675567C>TCA1393486USH2Ac.12344G>A (p.Arg4115His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675568delCA2747717667USH2Ac.12343del (p.Arg4115ValfsTer16)
1g.215675568G>ACA143286USH2Ac.12343C>T (p.Arg4115Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.215675568G>CCA344851208USH2Ac.12343C>G (p.Arg4115Gly)
1g.215675568G=CA1141189264USH2Ac.12343C= (p.Arg4115=)
1g.215675568G>TCA344851209USH2Ac.12343C>A (p.Arg4115Ser)
1g.215675569A>CCA344851211USH2Ac.12342T>G (p.Asn4114Lys)
1g.215675569A>GCA423311901USH2Ac.12342T>C (p.Asn4114=)
1g.215675569A>TCA344851212USH2Ac.12342T>A (p.Asn4114Lys)
1g.215675570T>ACA344851216USH2Ac.12341A>T (p.Asn4114Ile)
1g.215675570T>CCA344851213USH2Ac.12341A>G (p.Asn4114Ser)
1g.215675570T>GCA344851214USH2Ac.12341A>C (p.Asn4114Thr)
1g.215675570_215675571delCA2747717669USH2Ac.12340_12341del (p.Asn4114SerfsTer?)
1g.215675571_215675572insGTTTTCA2747717668USH2Ac.12341_12342insAACAA (p.Asn4114LysfsTer19)
1g.215675571T>ACA344851217USH2Ac.12340A>T (p.Asn4114Tyr)
1g.215675571T>CCA344851218USH2Ac.12340A>G (p.Asn4114Asp)
1g.215675571T>GCA344851220USH2Ac.12340A>C (p.Asn4114His)
1g.215675572C>ACA344851222USH2Ac.12339G>T (p.Leu4113Phe)
gnomAD v4
1g.215675572C=CA1220373986USH2Ac.12339G= (p.Leu4113=)
1g.215675572C>GCA344851224USH2Ac.12339G>C (p.Leu4113Phe)
1g.215675572C>TCA423311911USH2Ac.12339G>A (p.Leu4113=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.215675573A>CCA344851225USH2Ac.12338T>G (p.Leu4113Trp)
1g.215675573A>GCA344851226USH2Ac.12338T>C (p.Leu4113Ser)
1g.215675573A>TCA344851227USH2Ac.12338T>A (p.Leu4113Ter)
gnomAD v4
1g.215675574A>CCA344851228USH2Ac.12337T>G (p.Leu4113Val)
1g.215675574A>GCA423311914USH2Ac.12337T>C (p.Leu4113=)
1g.215675574A>TCA344851229USH2Ac.12337T>A (p.Leu4113Met)
1g.215675575A>CCA423311917USH2Ac.12336T>G (p.Gly4112=)
1g.215675575A>GCA423311919USH2Ac.12336T>C (p.Gly4112=)
1g.215675575A>TCA423311920USH2Ac.12336T>A (p.Gly4112=)
1g.215675576C>ACA344851230USH2Ac.12335G>T (p.Gly4112Val)
1g.215675576C=CA1145494942USH2Ac.12335G= (p.Gly4112=)
1g.215675576C>GCA1393488USH2Ac.12335G>C (p.Gly4112Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675576C>TCA1393487USH2Ac.12335G>A (p.Gly4112Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675577C>ACA344851232USH2Ac.12334G>T (p.Gly4112Cys)
1g.215675577C=CA1142181995USH2Ac.12334G= (p.Gly4112=)
1g.215675577C>GCA344851234USH2Ac.12334G>C (p.Gly4112Arg)
1g.215675577C>TCA1393489USH2Ac.12334G>A (p.Gly4112Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675578A=CA1220373987USH2Ac.12333T= (p.Ser4111=)
1g.215675578A>CCA423311932USH2Ac.12333T>G (p.Ser4111=)
1g.215675578A>GCA37413262USH2Ac.12333T>C (p.Ser4111=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.215675578A>TCA423311934USH2Ac.12333T>A (p.Ser4111=)
1g.215675578dupCA916082116USH2Ac.12333dup (p.Gly4112TrpfsTer?)
ClinVar dbSNP
1g.215675579G>ACA143284USH2Ac.12332C>T (p.Ser4111Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675579G>CCA344851237USH2Ac.12332C>G (p.Ser4111Cys)
1g.215675579G=CA1141846177USH2Ac.12332C= (p.Ser4111=)
1g.215675579G>TCA344851238USH2Ac.12332C>A (p.Ser4111Tyr)
1g.215675580A>CCA344851239USH2Ac.12331T>G (p.Ser4111Ala)
1g.215675580A>GCA344851240USH2Ac.12331T>C (p.Ser4111Pro)
1g.215675580A>TCA344851241USH2Ac.12331T>A (p.Ser4111Thr)
1g.215675581G>ACA423311944USH2Ac.12330C>T (p.Tyr4110=)
ClinVar dbSNP gnomAD v4
1g.215675581G>CCA344851243USH2Ac.12330C>G (p.Tyr4110Ter)
1g.215675581G>TCA344851244USH2Ac.12330C>A (p.Tyr4110Ter)
COSMIC COSMIC
1g.215675582T>ACA344851246USH2Ac.12329A>T (p.Tyr4110Phe)
1g.215675582T>CCA344851247USH2Ac.12329A>G (p.Tyr4110Cys)
1g.215675582T>GCA344851248USH2Ac.12329A>C (p.Tyr4110Ser)
1g.215675583A=CA1144558659USH2Ac.12328T= (p.Tyr4110=)
1g.215675583A>CCA37413268USH2Ac.12328T>G (p.Tyr4110Asp)
dbSNP gnomAD v3 gnomAD v4
1g.215675583A>GCA1393490USH2Ac.12328T>C (p.Tyr4110His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215675583A>TCA344851249USH2Ac.12328T>A (p.Tyr4110Asn)
ClinVar dbSNP
1g.215675584C>ACA344851252USH2Ac.12327G>T (p.Glu4109Asp)
dbSNP gnomAD v2
1g.215675584C=CA1220373988USH2Ac.12327G= (p.Glu4109=)
1g.215675584C>GCA344851254USH2Ac.12327G>C (p.Glu4109Asp)
1g.215675584C>TCA423311951USH2Ac.12327G>A (p.Glu4109=)
ClinVar dbSNP gnomAD v4
1g.215675585T>ACA344851256USH2Ac.12326A>T (p.Glu4109Val)
1g.215675585T>CCA344851258USH2Ac.12326A>G (p.Glu4109Gly)
1g.215675585T>GCA344851259USH2Ac.12326A>C (p.Glu4109Ala)
1g.215675586C>ACA344851260USH2Ac.12325G>T (p.Glu4109Ter)
COSMIC COSMIC
1g.215675586C>GCA344851262USH2Ac.12325G>C (p.Glu4109Gln)
1g.215675586C>TCA344851263USH2Ac.12325G>A (p.Glu4109Lys)
gnomAD v4 COSMIC COSMIC
1g.215675587C>ACA423311959USH2Ac.12324G>T (p.Leu4108=)
1g.215675587C>GCA423311964USH2Ac.12324G>C (p.Leu4108=)
1g.215675587C>TCA423311965USH2Ac.12324G>A (p.Leu4108=)
1g.215675588A>CCA344851265USH2Ac.12323T>G (p.Leu4108Arg)
gnomAD v4
1g.215675588A>GCA344851266USH2Ac.12323T>C (p.Leu4108Pro)
COSMIC COSMIC
1g.215675588A>TCA344851267USH2Ac.12323T>A (p.Leu4108Gln)
1g.215675589G>ACA423311967USH2Ac.12322C>T (p.Leu4108=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.215675589G>CCA344851269USH2Ac.12322C>G (p.Leu4108Val)
1g.215675589G=CA1220373989USH2Ac.12322C= (p.Leu4108=)
1g.215675589G>TCA344851270USH2Ac.12322C>A (p.Leu4108Met)
1g.215675590G>ACA423311968USH2Ac.12321C>T (p.Phe4107=)
ClinVar
1g.215675590G>CCA344851272USH2Ac.12321C>G (p.Phe4107Leu)
1g.215675590G>TCA344851273USH2Ac.12321C>A (p.Phe4107Leu)
1g.215675591A>CCA344851274USH2Ac.12320T>G (p.Phe4107Cys)
ClinVar gnomAD v4
1g.215675591A>GCA344851277USH2Ac.12320T>C (p.Phe4107Ser)
1g.215675591A>TCA344851276USH2Ac.12320T>A (p.Phe4107Tyr)
1g.215675592A>CCA344851278USH2Ac.12319T>G (p.Phe4107Val)
1g.215675592A>GCA344851281USH2Ac.12319T>C (p.Phe4107Leu)
1g.215675592A>TCA344851279USH2Ac.12319T>A (p.Phe4107Ile)
gnomAD v4
1g.215675592_215675593delinsACCA1220373990USH2Ac.12318_12319delinsGT (p.Gly4106=)
1g.215675594_215675600delCA2580062348USH2Ac.12313_12319del (p.Asp4105SerfsTer7)
ClinVar
1g.215675592_215675610delCA2747717670USH2Ac.12301_12319del (p.Asn4101SerfsTer7)
1g.215675593C>ACA423311975USH2Ac.12318G>T (p.Gly4106=)
1g.215675593C=CA1220373991USH2Ac.12318G= (p.Gly4106=)
1g.215675593C>GCA423311976USH2Ac.12318G>C (p.Gly4106=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.215675593C>TCA423311978USH2Ac.12318G>A (p.Gly4106=)
1g.215675595delCA529002117USH2Ac.12318del (p.Phe4107SerfsTer7)
dbSNP gnomAD v2 gnomAD v4
1g.215675594C>ACA344851283USH2Ac.12317G>T (p.Gly4106Val)
1g.215675594C>GCA344851284USH2Ac.12317G>C (p.Gly4106Ala)
1g.215675594C>TCA344851286USH2Ac.12317G>A (p.Gly4106Glu)
1g.215675595C>ACA344851287USH2Ac.12316G>T (p.Gly4106Trp)
dbSNP gnomAD v2 gnomAD v4
1g.215675595C=CA1220373992USH2Ac.12316G= (p.Gly4106=)
1g.215675595C>GCA344851288USH2Ac.12316G>C (p.Gly4106Arg)
1g.215675595C>TCA344851290USH2Ac.12316G>A (p.Gly4106Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.215675595_215675596delCA2747717671USH2Ac.12315_12316del (p.Asp4105GlufsTer?)
1g.215675596G>ACA1393491USH2Ac.12315C>T (p.Asp4105=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215675596G>CCA344851292USH2Ac.12315C>G (p.Asp4105Glu)
1g.215675596G=CA1220373993USH2Ac.12315C= (p.Asp4105=)
1g.215675596G>TCA344851293USH2Ac.12315C>A (p.Asp4105Glu)
1g.215675597T>ACA344851295USH2Ac.12314A>T (p.Asp4105Val)
1g.215675597T>CCA344851296USH2Ac.12314A>G (p.Asp4105Gly)
1g.215675597T>GCA344851297USH2Ac.12314A>C (p.Asp4105Ala)
1g.215675598C>ACA344851299USH2Ac.12313G>T (p.Asp4105Tyr)
1g.215675598C>GCA344851303USH2Ac.12313G>C (p.Asp4105His)
1g.215675598C>TCA344851301USH2Ac.12313G>A (p.Asp4105Asn)
gnomAD v4

Number of alleles fetched