Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74920184_74920186delCA8754026USH1Gc.655_657del (p.Lys219del)
c.*254_*256del (n.*254_*256del)
c.346_348del (p.Lys116del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920182C>ACA8754028USH1Gc.654G>T (p.Lys218Asn)
c.*253G>T (n.*253G>T)
c.345G>T (p.Lys115Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920182C=CA2275255482USH1Gc.654G= (p.Lys218=)
c.*253G= (n.*253G=)
c.345G= (p.Lys115=)
17g.74920182C>GCA400964100USH1Gc.654G>C (p.Lys218Asn)
c.*253G>C (n.*253G>C)
c.345G>C (p.Lys115Asn)
17g.74920182C>TCA502036703USH1Gc.654G>A (p.Lys218=)
c.*253G>A (n.*253G>A)
c.345G>A (p.Lys115=)
17g.74920183T>ACA400964103USH1Gc.653A>T (p.Lys218Met)
c.*252A>T (n.*252A>T)
c.344A>T (p.Lys115Met)
17g.74920183T>CCA400964105USH1Gc.653A>G (p.Lys218Arg)
c.*252A>G (n.*252A>G)
c.344A>G (p.Lys115Arg)
17g.74920183T>GCA400964108USH1Gc.653A>C (p.Lys218Thr)
c.*252A>C (n.*252A>C)
c.344A>C (p.Lys115Thr)
17g.74920184T>ACA400964116USH1Gc.652A>T (p.Lys218Ter)
c.*251A>T (n.*251A>T)
c.343A>T (p.Lys115Ter)
17g.74920184T>CCA400964113USH1Gc.652A>G (p.Lys218Glu)
c.*251A>G (n.*251A>G)
c.343A>G (p.Lys115Glu)
17g.74920184T>GCA400964111USH1Gc.652A>C (p.Lys218Gln)
c.*251A>C (n.*251A>C)
c.343A>C (p.Lys115Gln)
17g.74920185C>ACA400964119USH1Gc.651G>T (p.Gln217His)
c.*250G>T (n.*250G>T)
c.342G>T (p.Gln114His)
 gnomAD v4
17g.74920185C=CA2275255483USH1Gc.651G= (p.Gln217=)
c.*250G= (n.*250G=)
c.342G= (p.Gln114=)
17g.74920185C>GCA400964121USH1Gc.651G>C (p.Gln217His)
c.*250G>C (n.*250G>C)
c.342G>C (p.Gln114His)
17g.74920185C>TCA502036708USH1Gc.651G>A (p.Gln217=)
c.*250G>A (n.*250G>A)
c.342G>A (p.Gln114=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920186T>ACA400964123USH1Gc.650A>T (p.Gln217Leu)
c.*249A>T (n.*249A>T)
c.341A>T (p.Gln114Leu)
17g.74920186T>CCA8754029USH1Gc.650A>G (p.Gln217Arg)
c.*249A>G (n.*249A>G)
c.341A>G (p.Gln114Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920186T>GCA400964126USH1Gc.650A>C (p.Gln217Pro)
c.*249A>C (n.*249A>C)
c.341A>C (p.Gln114Pro)
 gnomAD v4
17g.74920186T=CA2275255484USH1Gc.650A= (p.Gln217=)
c.*249A= (n.*249A=)
c.341A= (p.Gln114=)
17g.74920187G>ACA400964132USH1Gc.649C>T (p.Gln217Ter)
c.*248C>T (n.*248C>T)
c.340C>T (p.Gln114Ter)
 gnomAD v4
17g.74920187G>CCA400964130USH1Gc.649C>G (p.Gln217Glu)
c.*248C>G (n.*248C>G)
c.340C>G (p.Gln114Glu)
17g.74920187G=CA2275255485USH1Gc.649C= (p.Gln217=)
c.*248C= (n.*248C=)
c.340C= (p.Gln114=)
17g.74920187G>TCA8754030USH1Gc.649C>A (p.Gln217Lys)
c.*248C>A (n.*248C>A)
c.340C>A (p.Gln114Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920188C>ACA400964135USH1Gc.648G>T (p.Met216Ile)
c.*247G>T (n.*247G>T)
c.339G>T (p.Met113Ile)
 gnomAD v4
17g.74920188C>GCA400964138USH1Gc.648G>C (p.Met216Ile)
c.*247G>C (n.*247G>C)
c.339G>C (p.Met113Ile)
17g.74920188C>TCA400964141USH1Gc.648G>A (p.Met216Ile)
c.*247G>A (n.*247G>A)
c.339G>A (p.Met113Ile)
 gnomAD v4
17g.74920189A=CA2275255486USH1Gc.647T= (p.Met216=)
c.*246T= (n.*246T=)
c.338T= (p.Met113=)
17g.74920189A>CCA400964143USH1Gc.647T>G (p.Met216Arg)
c.*246T>G (n.*246T>G)
c.338T>G (p.Met113Arg)
17g.74920189A>GCA8754031USH1Gc.647T>C (p.Met216Thr)
c.*246T>C (n.*246T>C)
c.338T>C (p.Met113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920189A>TCA400964147USH1Gc.647T>A (p.Met216Lys)
c.*246T>A (n.*246T>A)
c.338T>A (p.Met113Lys)
17g.74920190T>ACA400964148USH1Gc.646A>T (p.Met216Leu)
c.*245A>T (n.*245A>T)
c.337A>T (p.Met113Leu)
17g.74920190T>CCA400964150USH1Gc.646A>G (p.Met216Val)
c.*245A>G (n.*245A>G)
c.337A>G (p.Met113Val)
 dbSNP
17g.74920190T>GCA400964149USH1Gc.646A>C (p.Met216Leu)
c.*245A>C (n.*245A>C)
c.337A>C (p.Met113Leu)
17g.74920190T=CA2275255487USH1Gc.646A= (p.Met216=)
c.*245A= (n.*245A=)
c.337A= (p.Met113=)
17g.74920191C>ACA400964152USH1Gc.645G>T (p.Lys215Asn)
c.*244G>T (n.*244G>T)
c.336G>T (p.Lys112Asn)
 gnomAD v4
17g.74920191C>GCA400964154USH1Gc.645G>C (p.Lys215Asn)
c.*244G>C (n.*244G>C)
c.336G>C (p.Lys112Asn)
17g.74920191C>TCA502036719USH1Gc.645G>A (p.Lys215=)
c.*244G>A (n.*244G>A)
c.336G>A (p.Lys112=)
17g.74920191_74920192delinsCTCA2275255488USH1Gc.644_645delinsAG (p.Lys215=)
c.*243_*244delinsAG (n.*243_*244delinsAG)
c.335_336delinsAG (p.Lys112=)
17g.74920192T>ACA400964156USH1Gc.644A>T (p.Lys215Met)
c.*243A>T (n.*243A>T)
c.335A>T (p.Lys112Met)
17g.74920192T>CCA400964159USH1Gc.644A>G (p.Lys215Arg)
c.*243A>G (n.*243A>G)
c.335A>G (p.Lys112Arg)
17g.74920192T>GCA400964162USH1Gc.644A>C (p.Lys215Thr)
c.*243A>C (n.*243A>C)
c.335A>C (p.Lys112Thr)
17g.74920193delCA913190613USH1Gc.644del (p.Lys215ArgfsTer?)
c.*243del (n.*243del)
c.335del (p.Lys112ArgfsTer?)
 ClinVar dbSNP gnomAD v4
17g.74920193T>ACA400964167USH1Gc.643A>T (p.Lys215Ter)
c.*242A>T (n.*242A>T)
c.334A>T (p.Lys112Ter)
17g.74920193T>CCA400964180USH1Gc.643A>G (p.Lys215Glu)
c.*242A>G (n.*242A>G)
c.334A>G (p.Lys112Glu)
 gnomAD v4
17g.74920193T>GCA400964191USH1Gc.643A>C (p.Lys215Gln)
c.*242A>C (n.*242A>C)
c.334A>C (p.Lys112Gln)
17g.74920194G>ACA502036728USH1Gc.642C>T (p.Thr214=)
c.*241C>T (n.*241C>T)
c.333C>T (p.Thr111=)
17g.74920194G>CCA502036729USH1Gc.642C>G (p.Thr214=)
c.*241C>G (n.*241C>G)
c.333C>G (p.Thr111=)
17g.74920194G>TCA502036730USH1Gc.642C>A (p.Thr214=)
c.*241C>A (n.*241C>A)
c.333C>A (p.Thr111=)
17g.74920195G>ACA400964195USH1Gc.641C>T (p.Thr214Ile)
c.*240C>T (n.*240C>T)
c.332C>T (p.Thr111Ile)
17g.74920195G>CCA400964197USH1Gc.641C>G (p.Thr214Ser)
c.*240C>G (n.*240C>G)
c.332C>G (p.Thr111Ser)
 gnomAD v4
17g.74920195G>TCA400964199USH1Gc.641C>A (p.Thr214Asn)
c.*240C>A (n.*240C>A)
c.332C>A (p.Thr111Asn)
 gnomAD v4
17g.74920196T>ACA400964208USH1Gc.640A>T (p.Thr214Ser)
c.*239A>T (n.*239A>T)
c.331A>T (p.Thr111Ser)
17g.74920196T>CCA400964206USH1Gc.640A>G (p.Thr214Ala)
c.*239A>G (n.*239A>G)
c.331A>G (p.Thr111Ala)
 gnomAD v4 COSMIC
17g.74920196T>GCA400964203USH1Gc.640A>C (p.Thr214Pro)
c.*239A>C (n.*239A>C)
c.331A>C (p.Thr111Pro)
17g.74920197C>ACA400964210USH1Gc.639G>T (p.Lys213Asn)
c.*238G>T (n.*238G>T)
c.330G>T (p.Lys110Asn)
 gnomAD v4
17g.74920197C>GCA400964213USH1Gc.639G>C (p.Lys213Asn)
c.*238G>C (n.*238G>C)
c.330G>C (p.Lys110Asn)
17g.74920197C>TCA502036738USH1Gc.639G>A (p.Lys213=)
c.*238G>A (n.*238G>A)
c.330G>A (p.Lys110=)
 ClinVar gnomAD v4
17g.74920198T>ACA400964216USH1Gc.638A>T (p.Lys213Met)
c.*237A>T (n.*237A>T)
c.329A>T (p.Lys110Met)
17g.74920198T>CCA400964221USH1Gc.638A>G (p.Lys213Arg)
c.*237A>G (n.*237A>G)
c.329A>G (p.Lys110Arg)
17g.74920198T>GCA400964227USH1Gc.638A>C (p.Lys213Thr)
c.*237A>C (n.*237A>C)
c.329A>C (p.Lys110Thr)
17g.74920199T>ACA400964230USH1Gc.637A>T (p.Lys213Ter)
c.*236A>T (n.*236A>T)
c.328A>T (p.Lys110Ter)
17g.74920199T>CCA400964232USH1Gc.637A>G (p.Lys213Glu)
c.*236A>G (n.*236A>G)
c.328A>G (p.Lys110Glu)
 gnomAD v4
17g.74920199T>GCA400964233USH1Gc.637A>C (p.Lys213Gln)
c.*236A>C (n.*236A>C)
c.328A>C (p.Lys110Gln)
17g.74920200G>ACA502036750USH1Gc.636C>T (p.Gly212=)
c.*235C>T (n.*235C>T)
c.327C>T (p.Gly109=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74920200G>CCA502036753USH1Gc.636C>G (p.Gly212=)
c.*235C>G (n.*235C>G)
c.327C>G (p.Gly109=)
17g.74920200G=CA2275255489USH1Gc.636C= (p.Gly212=)
c.*235C= (n.*235C=)
c.327C= (p.Gly109=)
17g.74920200G>TCA502036751USH1Gc.636C>A (p.Gly212=)
c.*235C>A (n.*235C>A)
c.327C>A (p.Gly109=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920201C>ACA400964238USH1Gc.635G>T (p.Gly212Val)
c.*234G>T (n.*234G>T)
c.326G>T (p.Gly109Val)
 gnomAD v4
17g.74920201C=CA2275255490USH1Gc.635G= (p.Gly212=)
c.*234G= (n.*234G=)
c.326G= (p.Gly109=)
17g.74920201C>GCA8754033USH1Gc.635G>C (p.Gly212Ala)
c.*234G>C (n.*234G>C)
c.326G>C (p.Gly109Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920201C>TCA400964236USH1Gc.635G>A (p.Gly212Asp)
c.*234G>A (n.*234G>A)
c.326G>A (p.Gly109Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920204dupCA8754032USH1Gc.635dup (p.Lys213GlnfsTer?)
c.*234dup (n.*234dup)
c.326dup (p.Lys110GlnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920202C>ACA400964241USH1Gc.634G>T (p.Gly212Cys)
c.*233G>T (n.*233G>T)
c.325G>T (p.Gly109Cys)
 gnomAD v4
17g.74920202C>GCA400964242USH1Gc.634G>C (p.Gly212Arg)
c.*233G>C (n.*233G>C)
c.325G>C (p.Gly109Arg)
17g.74920202C>TCA400964244USH1Gc.634G>A (p.Gly212Ser)
c.*233G>A (n.*233G>A)
c.325G>A (p.Gly109Ser)
17g.74920203_74920204insGCCCA2576121643USH1Gc.634_635insCGG (p.Arg211_Gly212insAla)
c.*233_*234insCGG (n.*233_*234insCGG)
c.325_326insCGG (p.Arg108_Gly109insAla)
17g.74920203C>ACA400964246USH1Gc.633G>T (p.Arg211Ser)
c.*232G>T (n.*232G>T)
c.324G>T (p.Arg108Ser)
17g.74920203C>GCA400964248USH1Gc.633G>C (p.Arg211Ser)
c.*232G>C (n.*232G>C)
c.324G>C (p.Arg108Ser)
17g.74920203C>TCA502036757USH1Gc.633G>A (p.Arg211=)
c.*232G>A (n.*232G>A)
c.324G>A (p.Arg108=)
 gnomAD v4 COSMIC
17g.74920204C>ACA400964250USH1Gc.632G>T (p.Arg211Met)
c.*231G>T (n.*231G>T)
c.323G>T (p.Arg108Met)
17g.74920204C>GCA400964254USH1Gc.632G>C (p.Arg211Thr)
c.*231G>C (n.*231G>C)
c.323G>C (p.Arg108Thr)
17g.74920204C>TCA400964252USH1Gc.632G>A (p.Arg211Lys)
c.*231G>A (n.*231G>A)
c.323G>A (p.Arg108Lys)
17g.74920205T>ACA400964256USH1Gc.631A>T (p.Arg211Trp)
c.*230A>T (n.*230A>T)
c.322A>T (p.Arg108Trp)
17g.74920205T>CCA400964257USH1Gc.631A>G (p.Arg211Gly)
c.*230A>G (n.*230A>G)
c.322A>G (p.Arg108Gly)
17g.74920205T>GCA502036767USH1Gc.631A>C (p.Arg211=)
c.*230A>C (n.*230A>C)
c.322A>C (p.Arg108=)
17g.74920206G>ACA502036768USH1Gc.630C>T (p.Ala210=)
c.*229C>T (n.*229C>T)
c.321C>T (p.Ala107=)
17g.74920206G>CCA502036769USH1Gc.630C>G (p.Ala210=)
c.*229C>G (n.*229C>G)
c.321C>G (p.Ala107=)
17g.74920206G>TCA502036770USH1Gc.630C>A (p.Ala210=)
c.*229C>A (n.*229C>A)
c.321C>A (p.Ala107=)
 gnomAD v4
17g.74920207G>ACA400964260USH1Gc.629C>T (p.Ala210Val)
c.*228C>T (n.*228C>T)
c.320C>T (p.Ala107Val)
 gnomAD v4
17g.74920207G>CCA400964262USH1Gc.629C>G (p.Ala210Gly)
c.*228C>G (n.*228C>G)
c.320C>G (p.Ala107Gly)
17g.74920207G=CA2275255491USH1Gc.629C= (p.Ala210=)
c.*228C= (n.*228C=)
c.320C= (p.Ala107=)
17g.74920207G>TCA400964264USH1Gc.629C>A (p.Ala210Asp)
c.*228C>A (n.*228C>A)
c.320C>A (p.Ala107Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920208C>ACA400964266USH1Gc.628G>T (p.Ala210Ser)
c.*227G>T (n.*227G>T)
c.319G>T (p.Ala107Ser)
 gnomAD v4
17g.74920208C=CA2275255492USH1Gc.628G= (p.Ala210=)
c.*227G= (n.*227G=)
c.319G= (p.Ala107=)
17g.74920208C>GCA400964268USH1Gc.628G>C (p.Ala210Pro)
c.*227G>C (n.*227G>C)
c.319G>C (p.Ala107Pro)
17g.74920208C>TCA400964269USH1Gc.628G>A (p.Ala210Thr)
c.*227G>A (n.*227G>A)
c.319G>A (p.Ala107Thr)
 dbSNP gnomAD v4
17g.74920209C>ACA502036778USH1Gc.627G>T (p.Thr209=)
c.*226G>T (n.*226G>T)
c.318G>T (p.Thr106=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920209C=CA2275255493USH1Gc.627G= (p.Thr209=)
c.*226G= (n.*226G=)
c.318G= (p.Thr106=)
17g.74920209C>GCA502036781USH1Gc.627G>C (p.Thr209=)
c.*226G>C (n.*226G>C)
c.318G>C (p.Thr106=)
 gnomAD v4
17g.74920209C>TCA8754034USH1Gc.627G>A (p.Thr209=)
c.*226G>A (n.*226G>A)
c.318G>A (p.Thr106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920210G>ACA293984414USH1Gc.626C>T (p.Thr209Met)
c.*225C>T (n.*225C>T)
c.317C>T (p.Thr106Met)
 dbSNP gnomAD v3 gnomAD v4
17g.74920210G>CCA400964273USH1Gc.626C>G (p.Thr209Arg)
c.*225C>G (n.*225C>G)
c.317C>G (p.Thr106Arg)
17g.74920210G=CA2275255494USH1Gc.626C= (p.Thr209=)
c.*225C= (n.*225C=)
c.317C= (p.Thr106=)
17g.74920210G>TCA400964275USH1Gc.626C>A (p.Thr209Lys)
c.*225C>A (n.*225C>A)
c.317C>A (p.Thr106Lys)
 gnomAD v4
17g.74920211T>ACA400964278USH1Gc.625A>T (p.Thr209Ser)
c.*224A>T (n.*224A>T)
c.316A>T (p.Thr106Ser)
17g.74920211T>CCA400964282USH1Gc.625A>G (p.Thr209Ala)
c.*224A>G (n.*224A>G)
c.316A>G (p.Thr106Ala)
 gnomAD v4
17g.74920211T>GCA400964279USH1Gc.625A>C (p.Thr209Pro)
c.*224A>C (n.*224A>C)
c.316A>C (p.Thr106Pro)
17g.74920212G>ACA502036786USH1Gc.624C>T (p.Gly208=)
c.*223C>T (n.*223C>T)
c.315C>T (p.Gly105=)
17g.74920212G>CCA502036787USH1Gc.624C>G (p.Gly208=)
c.*223C>G (n.*223C>G)
c.315C>G (p.Gly105=)
17g.74920212G>TCA502036789USH1Gc.624C>A (p.Gly208=)
c.*223C>A (n.*223C>A)
c.315C>A (p.Gly105=)
 gnomAD v4
17g.74920213C>ACA400964283USH1Gc.623G>T (p.Gly208Val)
c.*222G>T (n.*222G>T)
c.314G>T (p.Gly105Val)
17g.74920213C>GCA400964285USH1Gc.623G>C (p.Gly208Ala)
c.*222G>C (n.*222G>C)
c.314G>C (p.Gly105Ala)
17g.74920213C>TCA400964287USH1Gc.623G>A (p.Gly208Asp)
c.*222G>A (n.*222G>A)
c.314G>A (p.Gly105Asp)
 gnomAD v4
17g.74920214C>ACA400964289USH1Gc.622G>T (p.Gly208Cys)
c.*221G>T (n.*221G>T)
c.313G>T (p.Gly105Cys)
 gnomAD v4
17g.74920214C=CA2275255495USH1Gc.622G= (p.Gly208=)
c.*221G= (n.*221G=)
c.313G= (p.Gly105=)
17g.74920214C>GCA400964291USH1Gc.622G>C (p.Gly208Arg)
c.*221G>C (n.*221G>C)
c.313G>C (p.Gly105Arg)
 dbSNP gnomAD v4
17g.74920214C>TCA400964293USH1Gc.622G>A (p.Gly208Ser)
c.*221G>A (n.*221G>A)
c.313G>A (p.Gly105Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.74920215G>ACA502036793USH1Gc.621C>T (p.His207=)
c.*220C>T (n.*220C>T)
c.312C>T (p.His104=)
 gnomAD v4
17g.74920215G>CCA400964295USH1Gc.621C>G (p.His207Gln)
c.*220C>G (n.*220C>G)
c.312C>G (p.His104Gln)
17g.74920215G=CA2275255496USH1Gc.621C= (p.His207=)
c.*220C= (n.*220C=)
c.312C= (p.His104=)
17g.74920215G>TCA293984415USH1Gc.621C>A (p.His207Gln)
c.*220C>A (n.*220C>A)
c.312C>A (p.His104Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920216T>ACA400964299USH1Gc.620A>T (p.His207Leu)
c.*219A>T (n.*219A>T)
c.311A>T (p.His104Leu)
17g.74920216T>CCA400964300USH1Gc.620A>G (p.His207Arg)
c.*219A>G (n.*219A>G)
c.311A>G (p.His104Arg)
17g.74920216T>GCA400964303USH1Gc.620A>C (p.His207Pro)
c.*219A>C (n.*219A>C)
c.311A>C (p.His104Pro)
17g.74920217G>ACA400964309USH1Gc.619C>T (p.His207Tyr)
c.*218C>T (n.*218C>T)
c.310C>T (p.His104Tyr)
 gnomAD v4
17g.74920217G>CCA400964307USH1Gc.619C>G (p.His207Asp)
c.*218C>G (n.*218C>G)
c.310C>G (p.His104Asp)
17g.74920217G>TCA400964305USH1Gc.619C>A (p.His207Asn)
c.*218C>A (n.*218C>A)
c.310C>A (p.His104Asn)
 COSMIC
17g.74920218_74920222dupCA2576121644USH1Gc.615_619dup (p.His207ArgfsTer?)
c.*214_*218dup (n.*214_*218dup)
c.306_310dup (p.His104ArgfsTer?)
17g.74920218C>ACA502036807USH1Gc.618G>T (p.Leu206=)
c.*217G>T (n.*217G>T)
c.309G>T (p.Leu103=)
17g.74920218C=CA2275255497USH1Gc.618G= (p.Leu206=)
c.*217G= (n.*217G=)
c.309G= (p.Leu103=)
17g.74920218C>GCA502036806USH1Gc.618G>C (p.Leu206=)
c.*217G>C (n.*217G>C)
c.309G>C (p.Leu103=)
 gnomAD v4
17g.74920218C>TCA8754035USH1Gc.618G>A (p.Leu206=)
c.*217G>A (n.*217G>A)
c.309G>A (p.Leu103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920219A>CCA400964313USH1Gc.617T>G (p.Leu206Arg)
c.*216T>G (n.*216T>G)
c.308T>G (p.Leu103Arg)
17g.74920219A>GCA400964314USH1Gc.617T>C (p.Leu206Pro)
c.*216T>C (n.*216T>C)
c.308T>C (p.Leu103Pro)
17g.74920219A>TCA400964316USH1Gc.617T>A (p.Leu206Gln)
c.*216T>A (n.*216T>A)
c.308T>A (p.Leu103Gln)
17g.74920220G>ACA502036810USH1Gc.616C>T (p.Leu206=)
c.*215C>T (n.*215C>T)
c.307C>T (p.Leu103=)
 dbSNP gnomAD v4
17g.74920220G>CCA400964319USH1Gc.616C>G (p.Leu206Val)
c.*215C>G (n.*215C>G)
c.307C>G (p.Leu103Val)
17g.74920220G=CA2275255498USH1Gc.616C= (p.Leu206=)
c.*215C= (n.*215C=)
c.307C= (p.Leu103=)
17g.74920220G>TCA400964320USH1Gc.616C>A (p.Leu206Met)
c.*215C>A (n.*215C>A)
c.307C>A (p.Leu103Met)
 gnomAD v4
17g.74920221C>ACA502036812USH1Gc.615G>T (p.Thr205=)
c.*214G>T (n.*214G>T)
c.306G>T (p.Thr102=)
 gnomAD v4
17g.74920221C>GCA502036815USH1Gc.615G>C (p.Thr205=)
c.*214G>C (n.*214G>C)
c.306G>C (p.Thr102=)
17g.74920221C>TCA502036818USH1Gc.615G>A (p.Thr205=)
c.*214G>A (n.*214G>A)
c.306G>A (p.Thr102=)
 gnomAD v4
17g.74920222G>ACA400964322USH1Gc.614C>T (p.Thr205Met)
c.*213C>T (n.*213C>T)
c.305C>T (p.Thr102Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.74920222G>CCA400964323USH1Gc.614C>G (p.Thr205Arg)
c.*213C>G (n.*213C>G)
c.305C>G (p.Thr102Arg)
17g.74920222G=CA2275255499USH1Gc.614C= (p.Thr205=)
c.*213C= (n.*213C=)
c.305C= (p.Thr102=)
17g.74920222G>TCA400964325USH1Gc.614C>A (p.Thr205Lys)
c.*213C>A (n.*213C>A)
c.305C>A (p.Thr102Lys)
 gnomAD v4
17g.74920223T>ACA400964328USH1Gc.613A>T (p.Thr205Ser)
c.*212A>T (n.*212A>T)
c.304A>T (p.Thr102Ser)
17g.74920223T>CCA400964330USH1Gc.613A>G (p.Thr205Ala)
c.*212A>G (n.*212A>G)
c.304A>G (p.Thr102Ala)
17g.74920223T>GCA400964331USH1Gc.613A>C (p.Thr205Pro)
c.*212A>C (n.*212A>C)
c.304A>C (p.Thr102Pro)
17g.74920224G>ACA502036823USH1Gc.612C>T (p.Ala204=)
c.*211C>T (n.*211C>T)
c.303C>T (p.Ala101=)
17g.74920224G>CCA502036825USH1Gc.612C>G (p.Ala204=)
c.*211C>G (n.*211C>G)
c.303C>G (p.Ala101=)
17g.74920224G>TCA502036826USH1Gc.612C>A (p.Ala204=)
c.*211C>A (n.*211C>A)
c.303C>A (p.Ala101=)
 gnomAD v4
17g.74920225G>ACA400964339USH1Gc.611C>T (p.Ala204Val)
c.*210C>T (n.*210C>T)
c.302C>T (p.Ala101Val)
 dbSNP gnomAD v4
17g.74920225G>CCA400964336USH1Gc.611C>G (p.Ala204Gly)
c.*210C>G (n.*210C>G)
c.302C>G (p.Ala101Gly)
 gnomAD v4
17g.74920225G=CA2275255500USH1Gc.611C= (p.Ala204=)
c.*210C= (n.*210C=)
c.302C= (p.Ala101=)
17g.74920225G>TCA400964334USH1Gc.611C>A (p.Ala204Asp)
c.*210C>A (n.*210C>A)
c.302C>A (p.Ala101Asp)
 gnomAD v4
17g.74920226C>ACA400964341USH1Gc.610G>T (p.Ala204Ser)
c.*209G>T (n.*209G>T)
c.301G>T (p.Ala101Ser)
 gnomAD v4
17g.74920226C=CA2275255501USH1Gc.610G= (p.Ala204=)
c.*209G= (n.*209G=)
c.301G= (p.Ala101=)
17g.74920226C>GCA400964344USH1Gc.610G>C (p.Ala204Pro)
c.*209G>C (n.*209G>C)
c.301G>C (p.Ala101Pro)
17g.74920226C>TCA400964342USH1Gc.610G>A (p.Ala204Thr)
c.*209G>A (n.*209G>A)
c.301G>A (p.Ala101Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.74920227C>ACA400964347USH1Gc.609G>T (p.Gln203His)
c.*208G>T (n.*208G>T)
c.300G>T (p.Gln100His)
17g.74920227C>GCA400964348USH1Gc.609G>C (p.Gln203His)
c.*208G>C (n.*208G>C)
c.300G>C (p.Gln100His)
17g.74920227C>TCA502036833USH1Gc.609G>A (p.Gln203=)
c.*208G>A (n.*208G>A)
c.300G>A (p.Gln100=)
17g.74920228T>ACA400964349USH1Gc.608A>T (p.Gln203Leu)
c.*207A>T (n.*207A>T)
c.299A>T (p.Gln100Leu)
17g.74920228T>CCA400964351USH1Gc.608A>G (p.Gln203Arg)
c.*207A>G (n.*207A>G)
c.299A>G (p.Gln100Arg)
17g.74920228T>GCA400964353USH1Gc.608A>C (p.Gln203Pro)
c.*207A>C (n.*207A>C)
c.299A>C (p.Gln100Pro)
17g.74920229G>ACA400964355USH1Gc.607C>T (p.Gln203Ter)
c.*206C>T (n.*206C>T)
c.298C>T (p.Gln100Ter)
 ClinVar
17g.74920229G>CCA184503USH1Gc.607C>G (p.Gln203Glu)
c.*206C>G (n.*206C>G)
c.298C>G (p.Gln100Glu)
 ClinVar dbSNP
17g.74920229G=CA2275255502USH1Gc.607C= (p.Gln203=)
c.*206C= (n.*206C=)
c.298C= (p.Gln100=)
17g.74920229G>TCA400964358USH1Gc.607C>A (p.Gln203Lys)
c.*206C>A (n.*206C>A)
c.298C>A (p.Gln100Lys)
17g.74920230A>CCA502036841USH1Gc.606T>G (p.Ser202=)
c.*205T>G (n.*205T>G)
c.297T>G (p.Ser99=)
17g.74920230A>GCA502036845USH1Gc.606T>C (p.Ser202=)
c.*205T>C (n.*205T>C)
c.297T>C (p.Ser99=)
 gnomAD v4
17g.74920230A>TCA502036846USH1Gc.606T>A (p.Ser202=)
c.*205T>A (n.*205T>A)
c.297T>A (p.Ser99=)
17g.74920231G>ACA400964360USH1Gc.605C>T (p.Ser202Phe)
c.*204C>T (n.*204C>T)
c.296C>T (p.Ser99Phe)
17g.74920231G>CCA400964362USH1Gc.605C>G (p.Ser202Cys)
c.*204C>G (n.*204C>G)
c.296C>G (p.Ser99Cys)
 gnomAD v4
17g.74920231G>TCA400964363USH1Gc.605C>A (p.Ser202Tyr)
c.*204C>A (n.*204C>A)
c.296C>A (p.Ser99Tyr)
 gnomAD v4
17g.74920232A>CCA400964369USH1Gc.604T>G (p.Ser202Ala)
c.*203T>G (n.*203T>G)
c.295T>G (p.Ser99Ala)
17g.74920232A>GCA400964366USH1Gc.604T>C (p.Ser202Pro)
c.*203T>C (n.*203T>C)
c.295T>C (p.Ser99Pro)
17g.74920232A>TCA400964367USH1Gc.604T>A (p.Ser202Thr)
c.*203T>A (n.*203T>A)
c.295T>A (p.Ser99Thr)
17g.74920233G>ACA502036858USH1Gc.603C>T (p.Tyr201=)
c.*202C>T (n.*202C>T)
c.294C>T (p.Tyr98=)
 dbSNP
17g.74920233G>CCA400964372USH1Gc.603C>G (p.Tyr201Ter)
c.*202C>G (n.*202C>G)
c.294C>G (p.Tyr98Ter)
17g.74920233G=CA2275255503USH1Gc.603C= (p.Tyr201=)
c.*202C= (n.*202C=)
c.294C= (p.Tyr98=)
17g.74920233G>TCA400964373USH1Gc.603C>A (p.Tyr201Ter)
c.*202C>A (n.*202C>A)
c.294C>A (p.Tyr98Ter)
 gnomAD v4
17g.74920234T>ACA400964374USH1Gc.602A>T (p.Tyr201Phe)
c.*201A>T (n.*201A>T)
c.293A>T (p.Tyr98Phe)
17g.74920234T>CCA400964376USH1Gc.602A>G (p.Tyr201Cys)
c.*201A>G (n.*201A>G)
c.293A>G (p.Tyr98Cys)
17g.74920234T>GCA400964377USH1Gc.602A>C (p.Tyr201Ser)
c.*201A>C (n.*201A>C)
c.293A>C (p.Tyr98Ser)
17g.74920235A=CA2275255504USH1Gc.601T= (p.Tyr201=)
c.*200T= (n.*200T=)
c.292T= (p.Tyr98=)
17g.74920235A>CCA400964378USH1Gc.601T>G (p.Tyr201Asp)
c.*200T>G (n.*200T>G)
c.292T>G (p.Tyr98Asp)
17g.74920235A>GCA8754036USH1Gc.601T>C (p.Tyr201His)
c.*200T>C (n.*200T>C)
c.292T>C (p.Tyr98His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920235A>TCA400964381USH1Gc.601T>A (p.Tyr201Asn)
c.*200T>A (n.*200T>A)
c.292T>A (p.Tyr98Asn)
17g.74920236C>ACA502036867USH1Gc.600G>T (p.Pro200=)
c.*199G>T (n.*199G>T)
c.291G>T (p.Pro97=)
17g.74920236C=CA2275255505USH1Gc.600G= (p.Pro200=)
c.*199G= (n.*199G=)
c.291G= (p.Pro97=)
17g.74920236C>GCA502036869USH1Gc.600G>C (p.Pro200=)
c.*199G>C (n.*199G>C)
c.291G>C (p.Pro97=)
17g.74920236C>TCA502036871USH1Gc.600G>A (p.Pro200=)
c.*199G>A (n.*199G>A)
c.291G>A (p.Pro97=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920237G>ACA8754037USH1Gc.599C>T (p.Pro200Leu)
c.*198C>T (n.*198C>T)
c.290C>T (p.Pro97Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920237G>CCA400964384USH1Gc.599C>G (p.Pro200Arg)
c.*198C>G (n.*198C>G)
c.290C>G (p.Pro97Arg)
 gnomAD v4
17g.74920237G=CA2275255506USH1Gc.599C= (p.Pro200=)
c.*198C= (n.*198C=)
c.290C= (p.Pro97=)
17g.74920237G>TCA400964386USH1Gc.599C>A (p.Pro200Gln)
c.*198C>A (n.*198C>A)
c.290C>A (p.Pro97Gln)
 gnomAD v4
17g.74920238G>ACA400964390USH1Gc.598C>T (p.Pro200Ser)
c.*197C>T (n.*197C>T)
c.289C>T (p.Pro97Ser)
 gnomAD v4
17g.74920238G>CCA400964392USH1Gc.598C>G (p.Pro200Ala)
c.*197C>G (n.*197C>G)
c.289C>G (p.Pro97Ala)
17g.74920238G>TCA400964388USH1Gc.598C>A (p.Pro200Thr)
c.*197C>A (n.*197C>A)
c.289C>A (p.Pro97Thr)
 gnomAD v4
17g.74920239C>ACA502036887USH1Gc.597G>T (p.Leu199=)
c.*196G>T (n.*196G>T)
c.288G>T (p.Leu96=)
17g.74920239C>GCA502036891USH1Gc.597G>C (p.Leu199=)
c.*196G>C (n.*196G>C)
c.288G>C (p.Leu96=)
17g.74920239C>TCA502036889USH1Gc.597G>A (p.Leu199=)
c.*196G>A (n.*196G>A)
c.288G>A (p.Leu96=)
17g.74920240A>CCA400964394USH1Gc.596T>G (p.Leu199Arg)
c.*195T>G (n.*195T>G)
c.287T>G (p.Leu96Arg)
17g.74920240A>GCA400964396USH1Gc.596T>C (p.Leu199Pro)
c.*195T>C (n.*195T>C)
c.287T>C (p.Leu96Pro)
17g.74920240A>TCA400964397USH1Gc.596T>A (p.Leu199Gln)
c.*195T>A (n.*195T>A)
c.287T>A (p.Leu96Gln)
17g.74920241G>ACA502036894USH1Gc.595C>T (p.Leu199=)
c.*194C>T (n.*194C>T)
c.286C>T (p.Leu96=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920241G>CCA400964399USH1Gc.595C>G (p.Leu199Val)
c.*194C>G (n.*194C>G)
c.286C>G (p.Leu96Val)
 ClinVar
17g.74920241G=CA2275255507USH1Gc.595C= (p.Leu199=)
c.*194C= (n.*194C=)
c.286C= (p.Leu96=)
17g.74920241G>TCA400964401USH1Gc.595C>A (p.Leu199Met)
c.*194C>A (n.*194C>A)
c.286C>A (p.Leu96Met)
 gnomAD v4
17g.74920242G>ACA179497USH1Gc.594C>T (p.His198=)
c.*193C>T (n.*193C>T)
c.285C>T (p.His95=)
 ClinVar dbSNP gnomAD v4
17g.74920242G>CCA400964404USH1Gc.594C>G (p.His198Gln)
c.*193C>G (n.*193C>G)
c.285C>G (p.His95Gln)
17g.74920242G=CA2275255508USH1Gc.594C= (p.His198=)
c.*193C= (n.*193C=)
c.285C= (p.His95=)
17g.74920242G>TCA400964406USH1Gc.594C>A (p.His198Gln)
c.*193C>A (n.*193C>A)
c.285C>A (p.His95Gln)
 gnomAD v4
17g.74920243T>ACA400964408USH1Gc.593A>T (p.His198Leu)
c.*192A>T (n.*192A>T)
c.284A>T (p.His95Leu)
17g.74920243T>CCA400964410USH1Gc.593A>G (p.His198Arg)
c.*192A>G (n.*192A>G)
c.284A>G (p.His95Arg)
17g.74920243T>GCA8754038USH1Gc.593A>C (p.His198Pro)
c.*192A>C (n.*192A>C)
c.284A>C (p.His95Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920243T=CA2275255509USH1Gc.593A= (p.His198=)
c.*192A= (n.*192A=)
c.284A= (p.His95=)
17g.74920244G>ACA400964412USH1Gc.592C>T (p.His198Tyr)
c.*191C>T (n.*191C>T)
c.283C>T (p.His95Tyr)
 dbSNP gnomAD v4
17g.74920244G>CCA400964413USH1Gc.592C>G (p.His198Asp)
c.*191C>G (n.*191C>G)
c.283C>G (p.His95Asp)
17g.74920244G=CA2275255510USH1Gc.592C= (p.His198=)
c.*191C= (n.*191C=)
c.283C= (p.His95=)
17g.74920244G>TCA400964415USH1Gc.592C>A (p.His198Asn)
c.*191C>A (n.*191C>A)
c.283C>A (p.His95Asn)
 gnomAD v4
17g.74920245G>ACA502036906USH1Gc.591C>T (p.Ser197=)
c.*190C>T (n.*190C>T)
c.282C>T (p.Ser94=)
 gnomAD v4
17g.74920245G>CCA400964418USH1Gc.591C>G (p.Ser197Arg)
c.*190C>G (n.*190C>G)
c.282C>G (p.Ser94Arg)
17g.74920245G>TCA400964419USH1Gc.591C>A (p.Ser197Arg)
c.*190C>A (n.*190C>A)
c.282C>A (p.Ser94Arg)
 gnomAD v4
17g.74920247_74920249dupCA2639748160USH1Gc.589_591dup (p.Ser197_His198insSer)
c.*188_*190dup (n.*188_*190dup)
c.280_282dup (p.Ser94_His95insSer)
 gnomAD v4
17g.74920246C>ACA400964422USH1Gc.590G>T (p.Ser197Ile)
c.*189G>T (n.*189G>T)
c.281G>T (p.Ser94Ile)
17g.74920246C=CA2275255511USH1Gc.590G= (p.Ser197=)
c.*189G= (n.*189G=)
c.281G= (p.Ser94=)
17g.74920246C>GCA8754039USH1Gc.590G>C (p.Ser197Thr)
c.*189G>C (n.*189G>C)
c.281G>C (p.Ser94Thr)
 dbSNP ExAC gnomAD v2
17g.74920246C>TCA400964423USH1Gc.590G>A (p.Ser197Asn)
c.*189G>A (n.*189G>A)
c.281G>A (p.Ser94Asn)
 gnomAD v4
17g.74920247T>ACA400964425USH1Gc.589A>T (p.Ser197Cys)
c.*188A>T (n.*188A>T)
c.280A>T (p.Ser94Cys)
17g.74920247T>CCA400964426USH1Gc.589A>G (p.Ser197Gly)
c.*188A>G (n.*188A>G)
c.280A>G (p.Ser94Gly)
17g.74920247T>GCA8754040USH1Gc.589A>C (p.Ser197Arg)
c.*188A>C (n.*188A>C)
c.280A>C (p.Ser94Arg)
 dbSNP ExAC gnomAD v2
17g.74920247T=CA2275255512USH1Gc.589A= (p.Ser197=)
c.*188A= (n.*188A=)
c.280A= (p.Ser94=)
17g.74920248G>ACA502036914USH1Gc.588C>T (p.Gly196=)
c.*187C>T (n.*187C>T)
c.279C>T (p.Gly93=)
 gnomAD v4
17g.74920248G>CCA502036915USH1Gc.588C>G (p.Gly196=)
c.*187C>G (n.*187C>G)
c.279C>G (p.Gly93=)
17g.74920248G>TCA502036916USH1Gc.588C>A (p.Gly196=)
c.*187C>A (n.*187C>A)
c.279C>A (p.Gly93=)
 gnomAD v4
17g.74920249C>ACA400964430USH1Gc.587G>T (p.Gly196Val)
c.*186G>T (n.*186G>T)
c.278G>T (p.Gly93Val)
17g.74920249C=CA2275255513USH1Gc.587G= (p.Gly196=)
c.*186G= (n.*186G=)
c.278G= (p.Gly93=)
17g.74920249C>GCA400964432USH1Gc.587G>C (p.Gly196Ala)
c.*186G>C (n.*186G>C)
c.278G>C (p.Gly93Ala)
17g.74920249C>TCA400964434USH1Gc.587G>A (p.Gly196Asp)
c.*186G>A (n.*186G>A)
c.278G>A (p.Gly93Asp)
 dbSNP gnomAD v4
17g.74920250C>ACA400964437USH1Gc.586G>T (p.Gly196Cys)
c.*185G>T (n.*185G>T)
c.277G>T (p.Gly93Cys)
 gnomAD v4
17g.74920250C>GCA400964438USH1Gc.586G>C (p.Gly196Arg)
c.*185G>C (n.*185G>C)
c.277G>C (p.Gly93Arg)
17g.74920250C>TCA400964439USH1Gc.586G>A (p.Gly196Ser)
c.*185G>A (n.*185G>A)
c.277G>A (p.Gly93Ser)
17g.74920251C>ACA502036923USH1Gc.585G>T (p.Leu195=)
c.*184G>T (n.*184G>T)
c.276G>T (p.Leu92=)
17g.74920251C>GCA502036927USH1Gc.585G>C (p.Leu195=)
c.*184G>C (n.*184G>C)
c.276G>C (p.Leu92=)
17g.74920251C>TCA502036925USH1Gc.585G>A (p.Leu195=)
c.*184G>A (n.*184G>A)
c.276G>A (p.Leu92=)
 gnomAD v4
17g.74920252A=CA2275255514USH1Gc.584T= (p.Leu195=)
c.*183T= (n.*183T=)
c.275T= (p.Leu92=)
17g.74920252A>CCA8754041USH1Gc.584T>G (p.Leu195Arg)
c.*183T>G (n.*183T>G)
c.275T>G (p.Leu92Arg)
 dbSNP ExAC COSMIC
17g.74920252A>GCA400964444USH1Gc.584T>C (p.Leu195Pro)
c.*183T>C (n.*183T>C)
c.275T>C (p.Leu92Pro)
 gnomAD v4
17g.74920252A>TCA400964442USH1Gc.584T>A (p.Leu195Gln)
c.*183T>A (n.*183T>A)
c.275T>A (p.Leu92Gln)
17g.74920253G>ACA502036930USH1Gc.583C>T (p.Leu195=)
c.*182C>T (n.*182C>T)
c.274C>T (p.Leu92=)
17g.74920253G>CCA400964446USH1Gc.583C>G (p.Leu195Val)
c.*182C>G (n.*182C>G)
c.274C>G (p.Leu92Val)
17g.74920253G>TCA400964448USH1Gc.583C>A (p.Leu195Met)
c.*182C>A (n.*182C>A)
c.274C>A (p.Leu92Met)
 gnomAD v4
17g.74920254C>ACA8754043USH1Gc.582G>T (p.Ala194=)
c.*181G>T (n.*181G>T)
c.273G>T (p.Ala91=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920254C=CA2275255515USH1Gc.582G= (p.Ala194=)
c.*181G= (n.*181G=)
c.273G= (p.Ala91=)
17g.74920254C>GCA502036934USH1Gc.582G>C (p.Ala194=)
c.*181G>C (n.*181G>C)
c.273G>C (p.Ala91=)
 ClinVar dbSNP gnomAD v4
17g.74920254C>TCA8754042USH1Gc.582G>A (p.Ala194=)
c.*181G>A (n.*181G>A)
c.273G>A (p.Ala91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920255G>ACA8754044USH1Gc.581C>T (p.Ala194Val)
c.*180C>T (n.*180C>T)
c.272C>T (p.Ala91Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74920255G>CCA400964455USH1Gc.581C>G (p.Ala194Gly)
c.*180C>G (n.*180C>G)
c.272C>G (p.Ala91Gly)
17g.74920255G=CA2275255516USH1Gc.581C= (p.Ala194=)
c.*180C= (n.*180C=)
c.272C= (p.Ala91=)
17g.74920255G>TCA400964454USH1Gc.581C>A (p.Ala194Glu)
c.*180C>A (n.*180C>A)
c.272C>A (p.Ala91Glu)
 gnomAD v4
17g.74920256C>ACA400964457USH1Gc.580G>T (p.Ala194Ser)
c.*179G>T (n.*179G>T)
c.271G>T (p.Ala91Ser)
 ClinVar gnomAD v4
17g.74920256C=CA2275255517USH1Gc.580G= (p.Ala194=)
c.*179G= (n.*179G=)
c.271G= (p.Ala91=)
17g.74920256C>GCA400964460USH1Gc.580G>C (p.Ala194Pro)
c.*179G>C (n.*179G>C)
c.271G>C (p.Ala91Pro)
17g.74920256C>TCA293984520USH1Gc.580G>A (p.Ala194Thr)
c.*179G>A (n.*179G>A)
c.271G>A (p.Ala91Thr)
 dbSNP
17g.74920257C>ACA502036937USH1Gc.579G>T (p.Leu193=)
c.*178G>T (n.*178G>T)
c.270G>T (p.Leu90=)
17g.74920257C>GCA502036938USH1Gc.579G>C (p.Leu193=)
c.*178G>C (n.*178G>C)
c.270G>C (p.Leu90=)
17g.74920257C>TCA502036939USH1Gc.579G>A (p.Leu193=)
c.*178G>A (n.*178G>A)
c.270G>A (p.Leu90=)
17g.74920258A>CCA400964462USH1Gc.578T>G (p.Leu193Arg)
c.*177T>G (n.*177T>G)
c.269T>G (p.Leu90Arg)
17g.74920258A>GCA400964463USH1Gc.578T>C (p.Leu193Pro)
c.*177T>C (n.*177T>C)
c.269T>C (p.Leu90Pro)
17g.74920258A>TCA400964465USH1Gc.578T>A (p.Leu193Gln)
c.*177T>A (n.*177T>A)
c.269T>A (p.Leu90Gln)
17g.74920259G>ACA502036944USH1Gc.577C>T (p.Leu193=)
c.*176C>T (n.*176C>T)
c.268C>T (p.Leu90=)
17g.74920259G>CCA400964467USH1Gc.577C>G (p.Leu193Val)
c.*176C>G (n.*176C>G)
c.268C>G (p.Leu90Val)
17g.74920259G>TCA400964469USH1Gc.577C>A (p.Leu193Met)
c.*176C>A (n.*176C>A)
c.268C>A (p.Leu90Met)
 gnomAD v4
17g.74920260A>CCA400964472USH1Gc.576T>G (p.His192Gln)
c.*175T>G (n.*175T>G)
c.267T>G (p.His89Gln)
17g.74920260A>GCA502036948USH1Gc.576T>C (p.His192=)
c.*175T>C (n.*175T>C)
c.267T>C (p.His89=)
17g.74920260A>TCA400964473USH1Gc.576T>A (p.His192Gln)
c.*175T>A (n.*175T>A)
c.267T>A (p.His89Gln)
 gnomAD v4
17g.74920261T>ACA400964476USH1Gc.575A>T (p.His192Leu)
c.*174A>T (n.*174A>T)
c.266A>T (p.His89Leu)
17g.74920261T>CCA400964478USH1Gc.575A>G (p.His192Arg)
c.*174A>G (n.*174A>G)
c.266A>G (p.His89Arg)
17g.74920261T>GCA400964479USH1Gc.575A>C (p.His192Pro)
c.*174A>C (n.*174A>C)
c.266A>C (p.His89Pro)
17g.74920262G>ACA400964482USH1Gc.574C>T (p.His192Tyr)
c.*173C>T (n.*173C>T)
c.265C>T (p.His89Tyr)
17g.74920262G>CCA400964484USH1Gc.574C>G (p.His192Asp)
c.*173C>G (n.*173C>G)
c.265C>G (p.His89Asp)
17g.74920262G>TCA400964486USH1Gc.574C>A (p.His192Asn)
c.*173C>A (n.*173C>A)
c.265C>A (p.His89Asn)
 gnomAD v4
17g.74920263C>ACA400964488USH1Gc.573G>T (p.Gln191His)
c.*172G>T (n.*172G>T)
c.264G>T (p.Gln88His)
17g.74920263C>GCA400964490USH1Gc.573G>C (p.Gln191His)
c.*172G>C (n.*172G>C)
c.264G>C (p.Gln88His)
17g.74920263C>TCA502036952USH1Gc.573G>A (p.Gln191=)
c.*172G>A (n.*172G>A)
c.264G>A (p.Gln88=)
 gnomAD v4
17g.74920264T>ACA400964493USH1Gc.572A>T (p.Gln191Leu)
c.*171A>T (n.*171A>T)
c.263A>T (p.Gln88Leu)
17g.74920264T>CCA400964494USH1Gc.572A>G (p.Gln191Arg)
c.*171A>G (n.*171A>G)
c.263A>G (p.Gln88Arg)
 gnomAD v4
17g.74920264T>GCA400964495USH1Gc.572A>C (p.Gln191Pro)
c.*171A>C (n.*171A>C)
c.263A>C (p.Gln88Pro)
17g.74920265G>ACA400964498USH1Gc.571C>T (p.Gln191Ter)
c.*170C>T (n.*170C>T)
c.262C>T (p.Gln88Ter)
 gnomAD v4
17g.74920265G>CCA400964499USH1Gc.571C>G (p.Gln191Glu)
c.*170C>G (n.*170C>G)
c.262C>G (p.Gln88Glu)
17g.74920265G>TCA400964502USH1Gc.571C>A (p.Gln191Lys)
c.*170C>A (n.*170C>A)
c.262C>A (p.Gln88Lys)
17g.74920266C>ACA502036956USH1Gc.570G>T (p.Leu190=)
c.*169G>T (n.*169G>T)
c.261G>T (p.Leu87=)
17g.74920266C=CA2275255518USH1Gc.570G= (p.Leu190=)
c.*169G= (n.*169G=)
c.261G= (p.Leu87=)
17g.74920266C>GCA502036959USH1Gc.570G>C (p.Leu190=)
c.*169G>C (n.*169G>C)
c.261G>C (p.Leu87=)
17g.74920266C>TCA502036962USH1Gc.570G>A (p.Leu190=)
c.*169G>A (n.*169G>A)
c.261G>A (p.Leu87=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920267A=CA2275255519USH1Gc.569T= (p.Leu190=)
c.*168T= (n.*168T=)
c.260T= (p.Leu87=)
17g.74920267A>CCA400964504USH1Gc.569T>G (p.Leu190Arg)
c.*168T>G (n.*168T>G)
c.260T>G (p.Leu87Arg)
17g.74920267A>GCA400964505USH1Gc.569T>C (p.Leu190Pro)
c.*168T>C (n.*168T>C)
c.260T>C (p.Leu87Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.74920267A>TCA400964507USH1Gc.569T>A (p.Leu190Gln)
c.*168T>A (n.*168T>A)
c.260T>A (p.Leu87Gln)
 COSMIC
17g.74920268G>ACA502036967USH1Gc.568C>T (p.Leu190=)
c.*167C>T (n.*167C>T)
c.259C>T (p.Leu87=)
17g.74920268G>CCA400964509USH1Gc.568C>G (p.Leu190Val)
c.*167C>G (n.*167C>G)
c.259C>G (p.Leu87Val)
17g.74920268G>TCA400964511USH1Gc.568C>A (p.Leu190Met)
c.*167C>A (n.*167C>A)
c.259C>A (p.Leu87Met)
 gnomAD v4
17g.74920269C>ACA502036970USH1Gc.567G>T (p.Arg189=)
c.*166G>T (n.*166G>T)
c.258G>T (p.Arg86=)
17g.74920269C>GCA502036971USH1Gc.567G>C (p.Arg189=)
c.*166G>C (n.*166G>C)
c.258G>C (p.Arg86=)
 COSMIC
17g.74920269C>TCA502036974USH1Gc.567G>A (p.Arg189=)
c.*166G>A (n.*166G>A)
c.258G>A (p.Arg86=)
 gnomAD v4
17g.74920270C>ACA400964515USH1Gc.566G>T (p.Arg189Leu)
c.*165G>T (n.*165G>T)
c.257G>T (p.Arg86Leu)
17g.74920270C=CA2275255520USH1Gc.566G= (p.Arg189=)
c.*165G= (n.*165G=)
c.257G= (p.Arg86=)
17g.74920270C>GCA400964513USH1Gc.566G>C (p.Arg189Pro)
c.*165G>C (n.*165G>C)
c.257G>C (p.Arg86Pro)
 gnomAD v4
17g.74920270C>TCA142660USH1Gc.566G>A (p.Arg189Gln)
c.*165G>A (n.*165G>A)
c.257G>A (p.Arg86Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920271G>ACA400964518USH1Gc.565C>T (p.Arg189Trp)
c.*164C>T (n.*164C>T)
c.256C>T (p.Arg86Trp)
 dbSNP gnomAD v2
17g.74920271G>CCA400964516USH1Gc.565C>G (p.Arg189Gly)
c.*164C>G (n.*164C>G)
c.256C>G (p.Arg86Gly)
17g.74920271G=CA2275255521USH1Gc.565C= (p.Arg189=)
c.*164C= (n.*164C=)
c.256C= (p.Arg86=)
17g.74920271G>TCA502036980USH1Gc.565C>A (p.Arg189=)
c.*164C>A (n.*164C>A)
c.256C>A (p.Arg86=)
17g.74920272G>ACA502036981USH1Gc.564C>T (p.Arg188=)
c.*163C>T (n.*163C>T)
c.255C>T (p.Arg85=)
17g.74920272G>CCA502036982USH1Gc.564C>G (p.Arg188=)
c.*163C>G (n.*163C>G)
c.255C>G (p.Arg85=)
17g.74920272G=CA2275255522USH1Gc.564C= (p.Arg188=)
c.*163C= (n.*163C=)
c.255C= (p.Arg85=)
17g.74920272G>TCA502036983USH1Gc.564C>A (p.Arg188=)
c.*163C>A (n.*163C>A)
c.255C>A (p.Arg85=)
 ClinVar dbSNP gnomAD v4
17g.74920273C>ACA8754045USH1Gc.563G>T (p.Arg188Leu)
c.*162G>T (n.*162G>T)
c.254G>T (p.Arg85Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920273C=CA2275255523USH1Gc.563G= (p.Arg188=)
c.*162G= (n.*162G=)
c.254G= (p.Arg85=)
17g.74920273C>GCA400964521USH1Gc.563G>C (p.Arg188Pro)
c.*162G>C (n.*162G>C)
c.254G>C (p.Arg85Pro)
17g.74920273C>TCA8754046USH1Gc.563G>A (p.Arg188His)
c.*162G>A (n.*162G>A)
c.254G>A (p.Arg85His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920274G>ACA400964522USH1Gc.562C>T (p.Arg188Cys)
c.*161C>T (n.*161C>T)
c.253C>T (p.Arg85Cys)
 ClinVar dbSNP gnomAD v4
17g.74920274G>CCA400964523USH1Gc.562C>G (p.Arg188Gly)
c.*161C>G (n.*161C>G)
c.253C>G (p.Arg85Gly)
17g.74920274G>TCA400964524USH1Gc.562C>A (p.Arg188Ser)
c.*161C>A (n.*161C>A)
c.253C>A (p.Arg85Ser)
 gnomAD v4
17g.74920275G>ACA502036987USH1Gc.561C>T (p.Ser187=)
c.*160C>T (n.*160C>T)
c.252C>T (p.Ser84=)
 gnomAD v4
17g.74920275G>CCA400964525USH1Gc.561C>G (p.Ser187Arg)
c.*160C>G (n.*160C>G)
c.252C>G (p.Ser84Arg)
17g.74920275G>TCA400964526USH1Gc.561C>A (p.Ser187Arg)
c.*160C>A (n.*160C>A)
c.252C>A (p.Ser84Arg)
 gnomAD v4
17g.74920276C>ACA400964527USH1Gc.560G>T (p.Ser187Ile)
c.*159G>T (n.*159G>T)
c.251G>T (p.Ser84Ile)
 gnomAD v4
17g.74920276C>GCA400964528USH1Gc.560G>C (p.Ser187Thr)
c.*159G>C (n.*159G>C)
c.251G>C (p.Ser84Thr)
 dbSNP
17g.74920276C>TCA400964529USH1Gc.560G>A (p.Ser187Asn)
c.*159G>A (n.*159G>A)
c.251G>A (p.Ser84Asn)
 gnomAD v4
17g.74920277T>ACA400964531USH1Gc.559A>T (p.Ser187Cys)
c.*158A>T (n.*158A>T)
c.250A>T (p.Ser84Cys)
17g.74920277T>CCA400964532USH1Gc.559A>G (p.Ser187Gly)
c.*158A>G (n.*158A>G)
c.250A>G (p.Ser84Gly)
17g.74920277T>GCA400964530USH1Gc.559A>C (p.Ser187Arg)
c.*158A>C (n.*158A>C)
c.250A>C (p.Ser84Arg)
17g.74920278C>ACA502036993USH1Gc.558G>T (p.Leu186=)
c.*157G>T (n.*157G>T)
c.249G>T (p.Leu83=)
17g.74920278C>GCA502036994USH1Gc.558G>C (p.Leu186=)
c.*157G>C (n.*157G>C)
c.249G>C (p.Leu83=)
17g.74920278C>TCA502036995USH1Gc.558G>A (p.Leu186=)
c.*157G>A (n.*157G>A)
c.249G>A (p.Leu83=)
17g.74920279A=CA2275255524USH1Gc.557T= (p.Leu186=)
c.*156T= (n.*156T=)
c.248T= (p.Leu83=)
17g.74920279A>CCA400964533USH1Gc.557T>G (p.Leu186Arg)
c.*156T>G (n.*156T>G)
c.248T>G (p.Leu83Arg)
17g.74920279A>GCA400964534USH1Gc.557T>C (p.Leu186Pro)
c.*156T>C (n.*156T>C)
c.248T>C (p.Leu83Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.74920279A>TCA400964535USH1Gc.557T>A (p.Leu186Gln)
c.*156T>A (n.*156T>A)
c.248T>A (p.Leu83Gln)
17g.74920280G>ACA502036997USH1Gc.556C>T (p.Leu186=)
c.*155C>T (n.*155C>T)
c.247C>T (p.Leu83=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74920280G>CCA400964536USH1Gc.556C>G (p.Leu186Val)
c.*155C>G (n.*155C>G)
c.247C>G (p.Leu83Val)
17g.74920280G=CA2275255525USH1Gc.556C= (p.Leu186=)
c.*155C= (n.*155C=)
c.247C= (p.Leu83=)
17g.74920280G>TCA400964537USH1Gc.556C>A (p.Leu186Met)
c.*155C>A (n.*155C>A)
c.247C>A (p.Leu83Met)
 gnomAD v4
17g.74920281G>ACA502036998USH1Gc.555C>T (p.Thr185=)
c.*154C>T (n.*154C>T)
c.246C>T (p.Thr82=)
 gnomAD v4
17g.74920281G>CCA8754047USH1Gc.555C>G (p.Thr185=)
c.*154C>G (n.*154C>G)
c.246C>G (p.Thr82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920281G=CA2275255526USH1Gc.555C= (p.Thr185=)
c.*154C= (n.*154C=)
c.246C= (p.Thr82=)
17g.74920281G>TCA502037000USH1Gc.555C>A (p.Thr185=)
c.*154C>A (n.*154C>A)
c.246C>A (p.Thr82=)
 gnomAD v4
17g.74920282G>ACA400964538USH1Gc.554C>T (p.Thr185Ile)
c.*153C>T (n.*153C>T)
c.245C>T (p.Thr82Ile)
17g.74920282G>CCA400964540USH1Gc.554C>G (p.Thr185Ser)
c.*153C>G (n.*153C>G)
c.245C>G (p.Thr82Ser)
 ClinVar dbSNP
17g.74920282G=CA2275255527USH1Gc.554C= (p.Thr185=)
c.*153C= (n.*153C=)
c.245C= (p.Thr82=)
17g.74920282G>TCA400964539USH1Gc.554C>A (p.Thr185Asn)
c.*153C>A (n.*153C>A)
c.245C>A (p.Thr82Asn)
 gnomAD v4

Number of alleles fetched