Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
17g.74920042T>ACA400963258USH1Gc.794A>T (p.Lys265Met)
c.*393A>T (n.*393A>T)
c.485A>T (p.Lys162Met)
17g.74920042T>CCA400963262USH1Gc.794A>G (p.Lys265Arg)
c.*393A>G (n.*393A>G)
c.485A>G (p.Lys162Arg)
 dbSNP gnomAD v4
17g.74920042T>GCA400963263USH1Gc.794A>C (p.Lys265Thr)
c.*393A>C (n.*393A>C)
c.485A>C (p.Lys162Thr)
 gnomAD v4
17g.74920042T=CA2275255403USH1Gc.794A= (p.Lys265=)
c.*393A= (n.*393A=)
c.485A= (p.Lys162=)
17g.74920043T>ACA400963272USH1Gc.793A>T (p.Lys265Ter)
c.*392A>T (n.*392A>T)
c.484A>T (p.Lys162Ter)
17g.74920043T>CCA400963268USH1Gc.793A>G (p.Lys265Glu)
c.*392A>G (n.*392A>G)
c.484A>G (p.Lys162Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.74920043T>GCA400963270USH1Gc.793A>C (p.Lys265Gln)
c.*392A>C (n.*392A>C)
c.484A>C (p.Lys162Gln)
17g.74920043T=CA2275255404USH1Gc.793A= (p.Lys265=)
c.*392A= (n.*392A=)
c.484A= (p.Lys162=)
17g.74920044G>ACA502036416USH1Gc.792C>T (p.Pro264=)
c.*391C>T (n.*391C>T)
c.483C>T (p.Pro161=)
 ClinVar dbSNP
17g.74920044G>CCA502036417USH1Gc.792C>G (p.Pro264=)
c.*391C>G (n.*391C>G)
c.483C>G (p.Pro161=)
17g.74920044G=CA2275255405USH1Gc.792C= (p.Pro264=)
c.*391C= (n.*391C=)
c.483C= (p.Pro161=)
17g.74920044G>TCA502036418USH1Gc.792C>A (p.Pro264=)
c.*391C>A (n.*391C>A)
c.483C>A (p.Pro161=)
17g.74920045G>ACA400963277USH1Gc.791C>T (p.Pro264Leu)
c.*390C>T (n.*390C>T)
c.482C>T (p.Pro161Leu)
 gnomAD v4
17g.74920045G>CCA400963279USH1Gc.791C>G (p.Pro264Arg)
c.*390C>G (n.*390C>G)
c.482C>G (p.Pro161Arg)
17g.74920045G>TCA400963282USH1Gc.791C>A (p.Pro264His)
c.*390C>A (n.*390C>A)
c.482C>A (p.Pro161His)
 gnomAD v4
17g.74920046G>ACA400963284USH1Gc.790C>T (p.Pro264Ser)
c.*389C>T (n.*389C>T)
c.481C>T (p.Pro161Ser)
 dbSNP
17g.74920046G>CCA400963287USH1Gc.790C>G (p.Pro264Ala)
c.*389C>G (n.*389C>G)
c.481C>G (p.Pro161Ala)
 gnomAD v4
17g.74920046G=CA2275255406USH1Gc.790C= (p.Pro264=)
c.*389C= (n.*389C=)
c.481C= (p.Pro161=)
17g.74920046G>TCA400963291USH1Gc.790C>A (p.Pro264Thr)
c.*389C>A (n.*389C>A)
c.481C>A (p.Pro161Thr)
17g.74920047A>CCA400963294USH1Gc.789T>G (p.Asn263Lys)
c.*388T>G (n.*388T>G)
c.480T>G (p.Asn160Lys)
17g.74920047A>GCA502036423USH1Gc.789T>C (p.Asn263=)
c.*388T>C (n.*388T>C)
c.480T>C (p.Asn160=)
17g.74920047A>TCA400963297USH1Gc.789T>A (p.Asn263Lys)
c.*388T>A (n.*388T>A)
c.480T>A (p.Asn160Lys)
17g.74920048T>ACA400963299USH1Gc.788A>T (p.Asn263Ile)
c.*387A>T (n.*387A>T)
c.479A>T (p.Asn160Ile)
17g.74920048T>CCA400963301USH1Gc.788A>G (p.Asn263Ser)
c.*387A>G (n.*387A>G)
c.479A>G (p.Asn160Ser)
17g.74920048T>GCA400963303USH1Gc.788A>C (p.Asn263Thr)
c.*387A>C (n.*387A>C)
c.479A>C (p.Asn160Thr)
17g.74920049T>ACA400963312USH1Gc.787A>T (p.Asn263Tyr)
c.*386A>T (n.*386A>T)
c.478A>T (p.Asn160Tyr)
17g.74920049T>CCA400963309USH1Gc.787A>G (p.Asn263Asp)
c.*386A>G (n.*386A>G)
c.478A>G (p.Asn160Asp)
 gnomAD v4
17g.74920049T>GCA400963306USH1Gc.787A>C (p.Asn263His)
c.*386A>C (n.*386A>C)
c.478A>C (p.Asn160His)
17g.74920050G>ACA502036428USH1Gc.786C>T (p.Ala262=)
c.*385C>T (n.*385C>T)
c.477C>T (p.Ala159=)
17g.74920050G>CCA502036429USH1Gc.786C>G (p.Ala262=)
c.*385C>G (n.*385C>G)
c.477C>G (p.Ala159=)
17g.74920050G>TCA502036430USH1Gc.786C>A (p.Ala262=)
c.*385C>A (n.*385C>A)
c.477C>A (p.Ala159=)
 gnomAD v4
17g.74920051G>ACA293984150USH1Gc.785C>T (p.Ala262Val)
c.*384C>T (n.*384C>T)
c.476C>T (p.Ala159Val)
 dbSNP gnomAD v4
17g.74920051G>CCA400963322USH1Gc.785C>G (p.Ala262Gly)
c.*384C>G (n.*384C>G)
c.476C>G (p.Ala159Gly)
 dbSNP gnomAD v4
17g.74920051G=CA2275255407USH1Gc.785C= (p.Ala262=)
c.*384C= (n.*384C=)
c.476C= (p.Ala159=)
17g.74920051G>TCA400963326USH1Gc.785C>A (p.Ala262Asp)
c.*384C>A (n.*384C>A)
c.476C>A (p.Ala159Asp)
17g.74920052C>ACA400963330USH1Gc.784G>T (p.Ala262Ser)
c.*383G>T (n.*383G>T)
c.475G>T (p.Ala159Ser)
 gnomAD v4
17g.74920052C=CA2275255408USH1Gc.784G= (p.Ala262=)
c.*383G= (n.*383G=)
c.475G= (p.Ala159=)
17g.74920052C>GCA400963333USH1Gc.784G>C (p.Ala262Pro)
c.*383G>C (n.*383G>C)
c.475G>C (p.Ala159Pro)
17g.74920052C>TCA400963336USH1Gc.784G>A (p.Ala262Thr)
c.*383G>A (n.*383G>A)
c.475G>A (p.Ala159Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.74920053delCA2573154821USH1Gc.783del (p.Tyr261Ter)
c.*382del (n.*382del)
c.474del (p.Tyr158Ter)
 ClinVar dbSNP gnomAD v4
17g.74920053G>ACA8754001USH1Gc.783C>T (p.Tyr261=)
c.*382C>T (n.*382C>T)
c.474C>T (p.Tyr158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920053G>CCA400963340USH1Gc.783C>G (p.Tyr261Ter)
c.*382C>G (n.*382C>G)
c.474C>G (p.Tyr158Ter)
 gnomAD v4
17g.74920053G=CA2275255409USH1Gc.783C= (p.Tyr261=)
c.*382C= (n.*382C=)
c.474C= (p.Tyr158=)
17g.74920053G>TCA400963338USH1Gc.783C>A (p.Tyr261Ter)
c.*382C>A (n.*382C>A)
c.474C>A (p.Tyr158Ter)
 gnomAD v4
17g.74920054T>ACA400963344USH1Gc.782A>T (p.Tyr261Phe)
c.*381A>T (n.*381A>T)
c.473A>T (p.Tyr158Phe)
17g.74920054T>CCA400963346USH1Gc.782A>G (p.Tyr261Cys)
c.*381A>G (n.*381A>G)
c.473A>G (p.Tyr158Cys)
17g.74920054T>GCA400963348USH1Gc.782A>C (p.Tyr261Ser)
c.*381A>C (n.*381A>C)
c.473A>C (p.Tyr158Ser)
17g.74920055A>CCA400963350USH1Gc.781T>G (p.Tyr261Asp)
c.*380T>G (n.*380T>G)
c.472T>G (p.Tyr158Asp)
17g.74920055A>GCA400963353USH1Gc.781T>C (p.Tyr261His)
c.*380T>C (n.*380T>C)
c.472T>C (p.Tyr158His)
17g.74920055A>TCA400963355USH1Gc.781T>A (p.Tyr261Asn)
c.*380T>A (n.*380T>A)
c.472T>A (p.Tyr158Asn)
17g.74920056G>ACA502036441USH1Gc.780C>T (p.Thr260=)
c.*379C>T (n.*379C>T)
c.471C>T (p.Thr157=)
 dbSNP
17g.74920056G>CCA502036442USH1Gc.780C>G (p.Thr260=)
c.*379C>G (n.*379C>G)
c.471C>G (p.Thr157=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920056G=CA2275255410USH1Gc.780C= (p.Thr260=)
c.*379C= (n.*379C=)
c.471C= (p.Thr157=)
17g.74920056G>TCA502036443USH1Gc.780C>A (p.Thr260=)
c.*379C>A (n.*379C>A)
c.471C>A (p.Thr157=)
 gnomAD v4
17g.74920056_74920057insTGCGCA913184952USH1Gc.780_781insGCAC (p.Tyr261AlafsTer?)
c.*379_*380insGCAC (n.*379_*380insGCAC)
c.471_472insGCAC (p.Tyr158AlafsTer?)
17g.74920057G>ACA400963357USH1Gc.779C>T (p.Thr260Ile)
c.*378C>T (n.*378C>T)
c.470C>T (p.Thr157Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.74920057G>CCA400963363USH1Gc.779C>G (p.Thr260Ser)
c.*378C>G (n.*378C>G)
c.470C>G (p.Thr157Ser)
17g.74920057G=CA2275255411USH1Gc.779C= (p.Thr260=)
c.*378C= (n.*378C=)
c.470C= (p.Thr157=)
17g.74920057G>TCA400963360USH1Gc.779C>A (p.Thr260Asn)
c.*378C>A (n.*378C>A)
c.470C>A (p.Thr157Asn)
17g.74920057_74920060dupCA775053354USH1Gc.776_779dup (p.Tyr261HisfsTer?)
c.*375_*378dup (n.*375_*378dup)
c.467_470dup (p.Tyr158HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
17g.74920058T>ACA400963366USH1Gc.778A>T (p.Thr260Ser)
c.*377A>T (n.*377A>T)
c.469A>T (p.Thr157Ser)
17g.74920058T>CCA400963368USH1Gc.778A>G (p.Thr260Ala)
c.*377A>G (n.*377A>G)
c.469A>G (p.Thr157Ala)
 COSMIC
17g.74920058T>GCA400963371USH1Gc.778A>C (p.Thr260Pro)
c.*377A>C (n.*377A>C)
c.469A>C (p.Thr157Pro)
17g.74920059G>ACA502036446USH1Gc.777C>T (p.Gly259=)
c.*376C>T (n.*376C>T)
c.468C>T (p.Gly156=)
 ClinVar dbSNP gnomAD v4
17g.74920059G>CCA502036447USH1Gc.777C>G (p.Gly259=)
c.*376C>G (n.*376C>G)
c.468C>G (p.Gly156=)
17g.74920059G>TCA502036448USH1Gc.777C>A (p.Gly259=)
c.*376C>A (n.*376C>A)
c.468C>A (p.Gly156=)
17g.74920060C>ACA400963373USH1Gc.776G>T (p.Gly259Val)
c.*375G>T (n.*375G>T)
c.467G>T (p.Gly156Val)
 dbSNP gnomAD v3 gnomAD v4
17g.74920060C=CA2275255412USH1Gc.776G= (p.Gly259=)
c.*375G= (n.*375G=)
c.467G= (p.Gly156=)
17g.74920060C>GCA400963374USH1Gc.776G>C (p.Gly259Ala)
c.*375G>C (n.*375G>C)
c.467G>C (p.Gly156Ala)
17g.74920060C>TCA8754002USH1Gc.776G>A (p.Gly259Asp)
c.*375G>A (n.*375G>A)
c.467G>A (p.Gly156Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920061C>ACA400963379USH1Gc.775G>T (p.Gly259Cys)
c.*374G>T (n.*374G>T)
c.466G>T (p.Gly156Cys)
17g.74920061C>GCA400963380USH1Gc.775G>C (p.Gly259Arg)
c.*374G>C (n.*374G>C)
c.466G>C (p.Gly156Arg)
17g.74920061C>TCA400963382USH1Gc.775G>A (p.Gly259Ser)
c.*374G>A (n.*374G>A)
c.466G>A (p.Gly156Ser)
 gnomAD v4
17g.74920062C>ACA400963385USH1Gc.774G>T (p.Gln258His)
c.*373G>T (n.*373G>T)
c.465G>T (p.Gln155His)
17g.74920062C=CA2275255413USH1Gc.774G= (p.Gln258=)
c.*373G= (n.*373G=)
c.465G= (p.Gln155=)
17g.74920062C>GCA400963387USH1Gc.774G>C (p.Gln258His)
c.*373G>C (n.*373G>C)
c.465G>C (p.Gln155His)
17g.74920062C>TCA502036451USH1Gc.774G>A (p.Gln258=)
c.*373G>A (n.*373G>A)
c.465G>A (p.Gln155=)
 dbSNP gnomAD v2
17g.74920063T>ACA400963390USH1Gc.773A>T (p.Gln258Leu)
c.*372A>T (n.*372A>T)
c.464A>T (p.Gln155Leu)
17g.74920063T>CCA400963393USH1Gc.773A>G (p.Gln258Arg)
c.*372A>G (n.*372A>G)
c.464A>G (p.Gln155Arg)
17g.74920063T>GCA400963389USH1Gc.773A>C (p.Gln258Pro)
c.*372A>C (n.*372A>C)
c.464A>C (p.Gln155Pro)
17g.74920064G>ACA400963396USH1Gc.772C>T (p.Gln258Ter)
c.*371C>T (n.*371C>T)
c.463C>T (p.Gln155Ter)
 gnomAD v4
17g.74920064G>CCA400963400USH1Gc.772C>G (p.Gln258Glu)
c.*371C>G (n.*371C>G)
c.463C>G (p.Gln155Glu)
17g.74920064G>TCA400963398USH1Gc.772C>A (p.Gln258Lys)
c.*371C>A (n.*371C>A)
c.463C>A (p.Gln155Lys)
17g.74920065G>ACA502036457USH1Gc.771C>T (p.Arg257=)
c.*370C>T (n.*370C>T)
c.462C>T (p.Arg154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920065G>CCA502036459USH1Gc.771C>G (p.Arg257=)
c.*370C>G (n.*370C>G)
c.462C>G (p.Arg154=)
17g.74920065G=CA2275255414USH1Gc.771C= (p.Arg257=)
c.*370C= (n.*370C=)
c.462C= (p.Arg154=)
17g.74920065G>TCA502036461USH1Gc.771C>A (p.Arg257=)
c.*370C>A (n.*370C>A)
c.462C>A (p.Arg154=)
17g.74920066C>ACA142668USH1Gc.770G>T (p.Arg257Leu)
c.*369G>T (n.*369G>T)
c.461G>T (p.Arg154Leu)
 ClinVar dbSNP
17g.74920066C=CA2275255415USH1Gc.770G= (p.Arg257=)
c.*369G= (n.*369G=)
c.461G= (p.Arg154=)
17g.74920066C>GCA400963406USH1Gc.770G>C (p.Arg257Pro)
c.*369G>C (n.*369G>C)
c.461G>C (p.Arg154Pro)
 dbSNP gnomAD v2
17g.74920066C>TCA8754003USH1Gc.770G>A (p.Arg257His)
c.*369G>A (n.*369G>A)
c.461G>A (p.Arg154His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920067G>ACA400963412USH1Gc.769C>T (p.Arg257Cys)
c.*368C>T (n.*368C>T)
c.460C>T (p.Arg154Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920067G>CCA400963414USH1Gc.769C>G (p.Arg257Gly)
c.*368C>G (n.*368C>G)
c.460C>G (p.Arg154Gly)
17g.74920067G=CA2275255416USH1Gc.769C= (p.Arg257=)
c.*368C= (n.*368C=)
c.460C= (p.Arg154=)
17g.74920067G>TCA400963417USH1Gc.769C>A (p.Arg257Ser)
c.*368C>A (n.*368C>A)
c.460C>A (p.Arg154Ser)
17g.74920068C>ACA502036465USH1Gc.768G>T (p.Val256=)
c.*367G>T (n.*367G>T)
c.459G>T (p.Val153=)
17g.74920068C=CA2275255417USH1Gc.768G= (p.Val256=)
c.*367G= (n.*367G=)
c.459G= (p.Val153=)
17g.74920068C>GCA502036468USH1Gc.768G>C (p.Val256=)
c.*367G>C (n.*367G>C)
c.459G>C (p.Val153=)
17g.74920068C>TCA502036467USH1Gc.768G>A (p.Val256=)
c.*367G>A (n.*367G>A)
c.459G>A (p.Val153=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920069delCA2576383328USH1Gc.767del (p.Val256GlyfsTer?)
c.*366del (n.*366del)
c.458del (p.Val153GlyfsTer?)
17g.74920069A>CCA400963420USH1Gc.767T>G (p.Val256Gly)
c.*366T>G (n.*366T>G)
c.458T>G (p.Val153Gly)
17g.74920069A>GCA400963421USH1Gc.767T>C (p.Val256Ala)
c.*366T>C (n.*366T>C)
c.458T>C (p.Val153Ala)
17g.74920069A>TCA400963426USH1Gc.767T>A (p.Val256Glu)
c.*366T>A (n.*366T>A)
c.458T>A (p.Val153Glu)
17g.74920070C>ACA8754004USH1Gc.766G>T (p.Val256Leu)
c.*365G>T (n.*365G>T)
c.457G>T (p.Val153Leu)
 dbSNP ExAC gnomAD v2
17g.74920070C=CA2275255418USH1Gc.766G= (p.Val256=)
c.*365G= (n.*365G=)
c.457G= (p.Val153=)
17g.74920070C>GCA400963431USH1Gc.766G>C (p.Val256Leu)
c.*365G>C (n.*365G>C)
c.457G>C (p.Val153Leu)
 dbSNP gnomAD v4
17g.74920070C>TCA400963429USH1Gc.766G>A (p.Val256Met)
c.*365G>A (n.*365G>A)
c.457G>A (p.Val153Met)
 dbSNP gnomAD v2 gnomAD v4
17g.74920071G>ACA502036473USH1Gc.765C>T (p.Phe255=)
c.*364C>T (n.*364C>T)
c.456C>T (p.Phe152=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920071G>CCA400963435USH1Gc.765C>G (p.Phe255Leu)
c.*364C>G (n.*364C>G)
c.456C>G (p.Phe152Leu)
17g.74920071G=CA2275255419USH1Gc.765C= (p.Phe255=)
c.*364C= (n.*364C=)
c.456C= (p.Phe152=)
17g.74920071G>TCA400963437USH1Gc.765C>A (p.Phe255Leu)
c.*364C>A (n.*364C>A)
c.456C>A (p.Phe152Leu)
 gnomAD v4
17g.74920071_74920078dupCA2639747948USH1Gc.758_765dup (p.Val256Ter)
c.*357_*364dup (n.*357_*364dup)
c.449_456dup (p.Val153Ter)
 gnomAD v4
17g.74920072A>CCA400963439USH1Gc.764T>G (p.Phe255Cys)
c.*363T>G (n.*363T>G)
c.455T>G (p.Phe152Cys)
17g.74920072A>GCA400963440USH1Gc.764T>C (p.Phe255Ser)
c.*363T>C (n.*363T>C)
c.455T>C (p.Phe152Ser)
17g.74920072A>TCA400963442USH1Gc.764T>A (p.Phe255Tyr)
c.*363T>A (n.*363T>A)
c.455T>A (p.Phe152Tyr)
17g.74920073A>CCA400963447USH1Gc.763T>G (p.Phe255Val)
c.*362T>G (n.*362T>G)
c.454T>G (p.Phe152Val)
17g.74920073A>GCA400963449USH1Gc.763T>C (p.Phe255Leu)
c.*362T>C (n.*362T>C)
c.454T>C (p.Phe152Leu)
17g.74920073A>TCA400963450USH1Gc.763T>A (p.Phe255Ile)
c.*362T>A (n.*362T>A)
c.454T>A (p.Phe152Ile)
17g.74920074C>ACA400963454USH1Gc.762G>T (p.Met254Ile)
c.*361G>T (n.*361G>T)
c.453G>T (p.Met151Ile)
 COSMIC
17g.74920074C=CA2275255420USH1Gc.762G= (p.Met254=)
c.*361G= (n.*361G=)
c.453G= (p.Met151=)
17g.74920074C>GCA400963456USH1Gc.762G>C (p.Met254Ile)
c.*361G>C (n.*361G>C)
c.453G>C (p.Met151Ile)
17g.74920074C>TCA8754005USH1Gc.762G>A (p.Met254Ile)
c.*361G>A (n.*361G>A)
c.453G>A (p.Met151Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920075A>CCA400963460USH1Gc.761T>G (p.Met254Arg)
c.*360T>G (n.*360T>G)
c.452T>G (p.Met151Arg)
17g.74920075A>GCA400963463USH1Gc.761T>C (p.Met254Thr)
c.*360T>C (n.*360T>C)
c.452T>C (p.Met151Thr)
17g.74920075A>TCA400963458USH1Gc.761T>A (p.Met254Lys)
c.*360T>A (n.*360T>A)
c.452T>A (p.Met151Lys)
17g.74920076T>ACA400963466USH1Gc.760A>T (p.Met254Leu)
c.*359A>T (n.*359A>T)
c.451A>T (p.Met151Leu)
17g.74920076T>CCA400963469USH1Gc.760A>G (p.Met254Val)
c.*359A>G (n.*359A>G)
c.451A>G (p.Met151Val)
17g.74920076T>GCA400963471USH1Gc.760A>C (p.Met254Leu)
c.*359A>C (n.*359A>C)
c.451A>C (p.Met151Leu)
17g.74920077C>ACA502036486USH1Gc.759G>T (p.Val253=)
c.*358G>T (n.*358G>T)
c.450G>T (p.Val150=)
17g.74920077C=CA2275255421USH1Gc.759G= (p.Val253=)
c.*358G= (n.*358G=)
c.450G= (p.Val150=)
17g.74920077C>GCA8754006USH1Gc.759G>C (p.Val253=)
c.*358G>C (n.*358G>C)
c.450G>C (p.Val150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920077C>TCA502036487USH1Gc.759G>A (p.Val253=)
c.*358G>A (n.*358G>A)
c.450G>A (p.Val150=)
17g.74920078A>CCA400963480USH1Gc.758T>G (p.Val253Gly)
c.*357T>G (n.*357T>G)
c.449T>G (p.Val150Gly)
17g.74920078A>GCA400963478USH1Gc.758T>C (p.Val253Ala)
c.*357T>C (n.*357T>C)
c.449T>C (p.Val150Ala)
17g.74920078A>TCA400963476USH1Gc.758T>A (p.Val253Glu)
c.*357T>A (n.*357T>A)
c.449T>A (p.Val150Glu)
17g.74920079C>ACA8754007USH1Gc.757G>T (p.Val253Leu)
c.*356G>T (n.*356G>T)
c.448G>T (p.Val150Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920079C=CA2275255422USH1Gc.757G= (p.Val253=)
c.*356G= (n.*356G=)
c.448G= (p.Val150=)
17g.74920079C>GCA400963484USH1Gc.757G>C (p.Val253Leu)
c.*356G>C (n.*356G>C)
c.448G>C (p.Val150Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.74920079C>TCA293984212USH1Gc.757G>A (p.Val253Met)
c.*356G>A (n.*356G>A)
c.448G>A (p.Val150Met)
 dbSNP gnomAD v4
17g.74920080G>ACA8754008USH1Gc.756C>T (p.Asp252=)
c.*355C>T (n.*355C>T)
c.447C>T (p.Asp149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920080G>CCA400963489USH1Gc.756C>G (p.Asp252Glu)
c.*355C>G (n.*355C>G)
c.447C>G (p.Asp149Glu)
17g.74920080G=CA2275255423USH1Gc.756C= (p.Asp252=)
c.*355C= (n.*355C=)
c.447C= (p.Asp149=)
17g.74920080G>TCA400963493USH1Gc.756C>A (p.Asp252Glu)
c.*355C>A (n.*355C>A)
c.447C>A (p.Asp149Glu)
 gnomAD v4
17g.74920081T>ACA400963497USH1Gc.755A>T (p.Asp252Val)
c.*354A>T (n.*354A>T)
c.446A>T (p.Asp149Val)
17g.74920081T>CCA400963507USH1Gc.755A>G (p.Asp252Gly)
c.*354A>G (n.*354A>G)
c.446A>G (p.Asp149Gly)
17g.74920081T>GCA400963504USH1Gc.755A>C (p.Asp252Ala)
c.*354A>C (n.*354A>C)
c.446A>C (p.Asp149Ala)
17g.74920082C>ACA293984263USH1Gc.754G>T (p.Asp252Tyr)
c.*353G>T (n.*353G>T)
c.445G>T (p.Asp149Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920082C=CA2275255424USH1Gc.754G= (p.Asp252=)
c.*353G= (n.*353G=)
c.445G= (p.Asp149=)
17g.74920082C>GCA400963511USH1Gc.754G>C (p.Asp252His)
c.*353G>C (n.*353G>C)
c.445G>C (p.Asp149His)
17g.74920082C>TCA400963513USH1Gc.754G>A (p.Asp252Asn)
c.*353G>A (n.*353G>A)
c.445G>A (p.Asp149Asn)
 COSMIC
17g.74920083G>ACA10646731USH1Gc.753C>T (p.Ser251=)
c.*352C>T (n.*352C>T)
c.444C>T (p.Ser148=)
 ClinVar dbSNP gnomAD v4
17g.74920083G>CCA400963517USH1Gc.753C>G (p.Ser251Arg)
c.*352C>G (n.*352C>G)
c.444C>G (p.Ser148Arg)
17g.74920083G=CA2275255425USH1Gc.753C= (p.Ser251=)
c.*352C= (n.*352C=)
c.444C= (p.Ser148=)
17g.74920083G>TCA400963520USH1Gc.753C>A (p.Ser251Arg)
c.*352C>A (n.*352C>A)
c.444C>A (p.Ser148Arg)
 gnomAD v4
17g.74920084C>ACA400963524USH1Gc.752G>T (p.Ser251Ile)
c.*351G>T (n.*351G>T)
c.443G>T (p.Ser148Ile)
17g.74920084C>GCA400963526USH1Gc.752G>C (p.Ser251Thr)
c.*351G>C (n.*351G>C)
c.443G>C (p.Ser148Thr)
17g.74920084C>TCA400963529USH1Gc.752G>A (p.Ser251Asn)
c.*351G>A (n.*351G>A)
c.443G>A (p.Ser148Asn)
 gnomAD v4
17g.74920085T>ACA400963531USH1Gc.751A>T (p.Ser251Cys)
c.*350A>T (n.*350A>T)
c.442A>T (p.Ser148Cys)
17g.74920085T>CCA400963534USH1Gc.751A>G (p.Ser251Gly)
c.*350A>G (n.*350A>G)
c.442A>G (p.Ser148Gly)
17g.74920085T>GCA400963536USH1Gc.751A>C (p.Ser251Arg)
c.*350A>C (n.*350A>C)
c.442A>C (p.Ser148Arg)
17g.74920086G>ACA502036502USH1Gc.750C>T (p.Gly250=)
c.*349C>T (n.*349C>T)
c.441C>T (p.Gly147=)
17g.74920086G>CCA502036503USH1Gc.750C>G (p.Gly250=)
c.*349C>G (n.*349C>G)
c.441C>G (p.Gly147=)
17g.74920086G>TCA502036505USH1Gc.750C>A (p.Gly250=)
c.*349C>A (n.*349C>A)
c.441C>A (p.Gly147=)
 gnomAD v4
17g.74920087C>ACA400963541USH1Gc.749G>T (p.Gly250Val)
c.*348G>T (n.*348G>T)
c.440G>T (p.Gly147Val)
17g.74920087C>GCA400963544USH1Gc.749G>C (p.Gly250Ala)
c.*348G>C (n.*348G>C)
c.440G>C (p.Gly147Ala)
17g.74920087C>TCA400963538USH1Gc.749G>A (p.Gly250Asp)
c.*348G>A (n.*348G>A)
c.440G>A (p.Gly147Asp)
17g.74920088C>ACA400963553USH1Gc.748G>T (p.Gly250Cys)
c.*347G>T (n.*347G>T)
c.439G>T (p.Gly147Cys)
17g.74920088C=CA2275255426USH1Gc.748G= (p.Gly250=)
c.*347G= (n.*347G=)
c.439G= (p.Gly147=)
17g.74920088C>GCA400963548USH1Gc.748G>C (p.Gly250Arg)
c.*347G>C (n.*347G>C)
c.439G>C (p.Gly147Arg)
17g.74920088C>TCA400963551USH1Gc.748G>A (p.Gly250Ser)
c.*347G>A (n.*347G>A)
c.439G>A (p.Gly147Ser)
 dbSNP
17g.74920089C>ACA502036512USH1Gc.747G>T (p.Leu249=)
c.*346G>T (n.*346G>T)
c.438G>T (p.Leu146=)
17g.74920089C>GCA502036510USH1Gc.747G>C (p.Leu249=)
c.*346G>C (n.*346G>C)
c.438G>C (p.Leu146=)
17g.74920089C>TCA502036509USH1Gc.747G>A (p.Leu249=)
c.*346G>A (n.*346G>A)
c.438G>A (p.Leu146=)
17g.74920090A>CCA400963557USH1Gc.746T>G (p.Leu249Arg)
c.*345T>G (n.*345T>G)
c.437T>G (p.Leu146Arg)
17g.74920090A>GCA400963560USH1Gc.746T>C (p.Leu249Pro)
c.*345T>C (n.*345T>C)
c.437T>C (p.Leu146Pro)
17g.74920090A>TCA400963562USH1Gc.746T>A (p.Leu249Gln)
c.*345T>A (n.*345T>A)
c.437T>A (p.Leu146Gln)
 gnomAD v4
17g.74920091G>ACA502036514USH1Gc.745C>T (p.Leu249=)
c.*344C>T (n.*344C>T)
c.436C>T (p.Leu146=)
 gnomAD v4
17g.74920091G>CCA400963566USH1Gc.745C>G (p.Leu249Val)
c.*344C>G (n.*344C>G)
c.436C>G (p.Leu146Val)
 dbSNP gnomAD v2 gnomAD v4
17g.74920091G=CA2275255427USH1Gc.745C= (p.Leu249=)
c.*344C= (n.*344C=)
c.436C= (p.Leu146=)
17g.74920091G>TCA400963568USH1Gc.745C>A (p.Leu249Met)
c.*344C>A (n.*344C>A)
c.436C>A (p.Leu146Met)
 gnomAD v4 COSMIC
17g.74920092C>ACA400963572USH1Gc.744G>T (p.Gln248His)
c.*343G>T (n.*343G>T)
c.435G>T (p.Gln145His)
 ClinVar dbSNP
17g.74920092C=CA2275255428USH1Gc.744G= (p.Gln248=)
c.*343G= (n.*343G=)
c.435G= (p.Gln145=)
17g.74920092C>GCA400963574USH1Gc.744G>C (p.Gln248His)
c.*343G>C (n.*343G>C)
c.435G>C (p.Gln145His)
17g.74920092C>TCA502036515USH1Gc.744G>A (p.Gln248=)
c.*343G>A (n.*343G>A)
c.435G>A (p.Gln145=)
17g.74920093T>ACA400963578USH1Gc.743A>T (p.Gln248Leu)
c.*342A>T (n.*342A>T)
c.434A>T (p.Gln145Leu)
17g.74920093T>CCA400963580USH1Gc.743A>G (p.Gln248Arg)
c.*342A>G (n.*342A>G)
c.434A>G (p.Gln145Arg)
 gnomAD v4
17g.74920093T>GCA400963583USH1Gc.743A>C (p.Gln248Pro)
c.*342A>C (n.*342A>C)
c.434A>C (p.Gln145Pro)
17g.74920094delCA2639747986USH1Gc.742del (p.Gln248SerfsTer6)
c.*341del (n.*341del)
c.433del (p.Gln145SerfsTer6)
 gnomAD v4
17g.74920094G>ACA8754009USH1Gc.742C>T (p.Gln248Ter)
c.*341C>T (n.*341C>T)
c.433C>T (p.Gln145Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920094G>CCA400963587USH1Gc.742C>G (p.Gln248Glu)
c.*341C>G (n.*341C>G)
c.433C>G (p.Gln145Glu)
17g.74920094G=CA2275255429USH1Gc.742C= (p.Gln248=)
c.*341C= (n.*341C=)
c.433C= (p.Gln145=)
17g.74920094G>TCA400963589USH1Gc.742C>A (p.Gln248Lys)
c.*341C>A (n.*341C>A)
c.433C>A (p.Gln145Lys)
 gnomAD v4
17g.74920095C>ACA502036520USH1Gc.741G>T (p.Leu247=)
c.*340G>T (n.*340G>T)
c.432G>T (p.Leu144=)
17g.74920095C=CA2275255430USH1Gc.741G= (p.Leu247=)
c.*340G= (n.*340G=)
c.432G= (p.Leu144=)
17g.74920095C>GCA502036521USH1Gc.741G>C (p.Leu247=)
c.*340G>C (n.*340G>C)
c.432G>C (p.Leu144=)
17g.74920095C>TCA502036522USH1Gc.741G>A (p.Leu247=)
c.*340G>A (n.*340G>A)
c.432G>A (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920096A>CCA400963594USH1Gc.740T>G (p.Leu247Arg)
c.*339T>G (n.*339T>G)
c.431T>G (p.Leu144Arg)
 gnomAD v4
17g.74920096A>GCA400963596USH1Gc.740T>C (p.Leu247Pro)
c.*339T>C (n.*339T>C)
c.431T>C (p.Leu144Pro)
 gnomAD v4
17g.74920096A>TCA400963599USH1Gc.740T>A (p.Leu247Gln)
c.*339T>A (n.*339T>A)
c.431T>A (p.Leu144Gln)
17g.74920097G>ACA293984266USH1Gc.739C>T (p.Leu247=)
c.*338C>T (n.*338C>T)
c.430C>T (p.Leu144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920097G>CCA400963604USH1Gc.739C>G (p.Leu247Val)
c.*338C>G (n.*338C>G)
c.430C>G (p.Leu144Val)
 gnomAD v4
17g.74920097G=CA2275255431USH1Gc.739C= (p.Leu247=)
c.*338C= (n.*338C=)
c.430C= (p.Leu144=)
17g.74920097G>TCA400963606USH1Gc.739C>A (p.Leu247Met)
c.*338C>A (n.*338C>A)
c.430C>A (p.Leu144Met)
 gnomAD v4
17g.74920098G>ACA502036526USH1Gc.738C>T (p.Gly246=)
c.*337C>T (n.*337C>T)
c.429C>T (p.Gly143=)
 gnomAD v4
17g.74920098G>CCA502036527USH1Gc.738C>G (p.Gly246=)
c.*337C>G (n.*337C>G)
c.429C>G (p.Gly143=)
17g.74920098G>TCA502036528USH1Gc.738C>A (p.Gly246=)
c.*337C>A (n.*337C>A)
c.429C>A (p.Gly143=)
 gnomAD v4
17g.74920099C>ACA400963609USH1Gc.737G>T (p.Gly246Val)
c.*336G>T (n.*336G>T)
c.428G>T (p.Gly143Val)
17g.74920099C=CA2275255432USH1Gc.737G= (p.Gly246=)
c.*336G= (n.*336G=)
c.428G= (p.Gly143=)
17g.74920099C>GCA400963610USH1Gc.737G>C (p.Gly246Ala)
c.*336G>C (n.*336G>C)
c.428G>C (p.Gly143Ala)
 gnomAD v4
17g.74920099C>TCA8754010USH1Gc.737G>A (p.Gly246Asp)
c.*336G>A (n.*336G>A)
c.428G>A (p.Gly143Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920101dupCA2639747999USH1Gc.737dup (p.Leu247ProfsTer?)
c.*336dup (n.*336dup)
c.428dup (p.Leu144ProfsTer?)
 gnomAD v4
17g.74920100C>ACA400963614USH1Gc.736G>T (p.Gly246Cys)
c.*335G>T (n.*335G>T)
c.427G>T (p.Gly143Cys)
17g.74920100C>GCA400963618USH1Gc.736G>C (p.Gly246Arg)
c.*335G>C (n.*335G>C)
c.427G>C (p.Gly143Arg)
 gnomAD v4
17g.74920100C>TCA400963622USH1Gc.736G>A (p.Gly246Ser)
c.*335G>A (n.*335G>A)
c.427G>A (p.Gly143Ser)
17g.74920101C>ACA502036535USH1Gc.735G>T (p.Ser245=)
c.*334G>T (n.*334G>T)
c.426G>T (p.Ser142=)
17g.74920101C=CA2275255433USH1Gc.735G= (p.Ser245=)
c.*334G= (n.*334G=)
c.426G= (p.Ser142=)
17g.74920101C>GCA502036536USH1Gc.735G>C (p.Ser245=)
c.*334G>C (n.*334G>C)
c.426G>C (p.Ser142=)
 gnomAD v4
17g.74920101C>TCA502036537USH1Gc.735G>A (p.Ser245=)
c.*334G>A (n.*334G>A)
c.426G>A (p.Ser142=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920102G>ACA142666USH1Gc.734C>T (p.Ser245Leu)
c.*333C>T (n.*333C>T)
c.425C>T (p.Ser142Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920102G>CCA400963630USH1Gc.734C>G (p.Ser245Trp)
c.*333C>G (n.*333C>G)
c.425C>G (p.Ser142Trp)
 gnomAD v4
17g.74920102G=CA2275255434USH1Gc.734C= (p.Ser245=)
c.*333C= (n.*333C=)
c.425C= (p.Ser142=)
17g.74920102G>TCA400963627USH1Gc.734C>A (p.Ser245Ter)
c.*333C>A (n.*333C>A)
c.425C>A (p.Ser142Ter)
 gnomAD v4
17g.74920103A=CA2275255435USH1Gc.733T= (p.Ser245=)
c.*332T= (n.*332T=)
c.424T= (p.Ser142=)
17g.74920103A>CCA400963639USH1Gc.733T>G (p.Ser245Ala)
c.*332T>G (n.*332T>G)
c.424T>G (p.Ser142Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.74920103A>GCA400963634USH1Gc.733T>C (p.Ser245Pro)
c.*332T>C (n.*332T>C)
c.424T>C (p.Ser142Pro)
17g.74920103A>TCA400963636USH1Gc.733T>A (p.Ser245Thr)
c.*332T>A (n.*332T>A)
c.424T>A (p.Ser142Thr)
17g.74920104G>ACA502036543USH1Gc.732C>T (p.Leu244=)
c.*331C>T (n.*331C>T)
c.423C>T (p.Leu141=)
17g.74920104G>CCA502036544USH1Gc.732C>G (p.Leu244=)
c.*331C>G (n.*331C>G)
c.423C>G (p.Leu141=)
 gnomAD v4
17g.74920104G>TCA502036546USH1Gc.732C>A (p.Leu244=)
c.*331C>A (n.*331C>A)
c.423C>A (p.Leu141=)
17g.74920105A=CA2275255436USH1Gc.731T= (p.Leu244=)
c.*330T= (n.*330T=)
c.422T= (p.Leu141=)
17g.74920105A>CCA8754011USH1Gc.731T>G (p.Leu244Arg)
c.*330T>G (n.*330T>G)
c.422T>G (p.Leu141Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920105A>GCA400963641USH1Gc.731T>C (p.Leu244Pro)
c.*330T>C (n.*330T>C)
c.422T>C (p.Leu141Pro)
17g.74920105A>TCA400963643USH1Gc.731T>A (p.Leu244His)
c.*330T>A (n.*330T>A)
c.422T>A (p.Leu141His)
17g.74920106G>ACA8754012USH1Gc.730C>T (p.Leu244Phe)
c.*329C>T (n.*329C>T)
c.421C>T (p.Leu141Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920106G>CCA400963647USH1Gc.730C>G (p.Leu244Val)
c.*329C>G (n.*329C>G)
c.421C>G (p.Leu141Val)
17g.74920106G=CA2275255437USH1Gc.730C= (p.Leu244=)
c.*329C= (n.*329C=)
c.421C= (p.Leu141=)
17g.74920106G>TCA400963651USH1Gc.730C>A (p.Leu244Ile)
c.*329C>A (n.*329C>A)
c.421C>A (p.Leu141Ile)
 gnomAD v4
17g.74920107C>ACA502036549USH1Gc.729G>T (p.Ser243=)
c.*328G>T (n.*328G>T)
c.420G>T (p.Ser140=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920107C=CA2275255438USH1Gc.729G= (p.Ser243=)
c.*328G= (n.*328G=)
c.420G= (p.Ser140=)
17g.74920107C>GCA502036550USH1Gc.729G>C (p.Ser243=)
c.*328G>C (n.*328G>C)
c.420G>C (p.Ser140=)
17g.74920107C>TCA502036551USH1Gc.729G>A (p.Ser243=)
c.*328G>A (n.*328G>A)
c.420G>A (p.Ser140=)
 gnomAD v4 COSMIC
17g.74920108G>ACA400963654USH1Gc.728C>T (p.Ser243Leu)
c.*327C>T (n.*327C>T)
c.419C>T (p.Ser140Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74920108G>CCA400963656USH1Gc.728C>G (p.Ser243Trp)
c.*327C>G (n.*327C>G)
c.419C>G (p.Ser140Trp)
 gnomAD v4
17g.74920108G=CA2275255439USH1Gc.728C= (p.Ser243=)
c.*327C= (n.*327C=)
c.419C= (p.Ser140=)
17g.74920108G>TCA8754013USH1Gc.728C>A (p.Ser243Ter)
c.*327C>A (n.*327C>A)
c.419C>A (p.Ser140Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920109A=CA2275255440USH1Gc.727T= (p.Ser243=)
c.*326T= (n.*326T=)
c.418T= (p.Ser140=)
17g.74920109A>CCA400963666USH1Gc.727T>G (p.Ser243Ala)
c.*326T>G (n.*326T>G)
c.418T>G (p.Ser140Ala)
17g.74920109A>GCA400963667USH1Gc.727T>C (p.Ser243Pro)
c.*326T>C (n.*326T>C)
c.418T>C (p.Ser140Pro)
17g.74920109A>TCA400963670USH1Gc.727T>A (p.Ser243Thr)
c.*326T>A (n.*326T>A)
c.418T>A (p.Ser140Thr)
17g.74920110G>ACA502036559USH1Gc.726C>T (p.Arg242=)
c.*325C>T (n.*325C>T)
c.417C>T (p.Arg139=)
17g.74920110G>CCA502036560USH1Gc.726C>G (p.Arg242=)
c.*325C>G (n.*325C>G)
c.417C>G (p.Arg139=)
17g.74920110G>TCA502036558USH1Gc.726C>A (p.Arg242=)
c.*325C>A (n.*325C>A)
c.417C>A (p.Arg139=)
 gnomAD v4
17g.74920113_74920116dupCA8754014USH1Gc.723_726dup (p.Ser243ProfsTer?)
c.*322_*325dup (n.*322_*325dup)
c.414_417dup (p.Ser140ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920111C>ACA400963674USH1Gc.725G>T (p.Arg242Leu)
c.*324G>T (n.*324G>T)
c.416G>T (p.Arg139Leu)
 gnomAD v4
17g.74920111C=CA2275255441USH1Gc.725G= (p.Arg242=)
c.*324G= (n.*324G=)
c.416G= (p.Arg139=)
17g.74920111C>GCA400963676USH1Gc.725G>C (p.Arg242Pro)
c.*324G>C (n.*324G>C)
c.416G>C (p.Arg139Pro)
 gnomAD v4
17g.74920111C>TCA8754015USH1Gc.725G>A (p.Arg242His)
c.*324G>A (n.*324G>A)
c.416G>A (p.Arg139His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920112G>ACA400963681USH1Gc.724C>T (p.Arg242Cys)
c.*323C>T (n.*323C>T)
c.415C>T (p.Arg139Cys)
 dbSNP gnomAD v4
17g.74920112G>CCA8754016USH1Gc.724C>G (p.Arg242Gly)
c.*323C>G (n.*323C>G)
c.415C>G (p.Arg139Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920112G=CA2275255442USH1Gc.724C= (p.Arg242=)
c.*323C= (n.*323C=)
c.415C= (p.Arg139=)
17g.74920112G>TCA400963683USH1Gc.724C>A (p.Arg242Ser)
c.*323C>A (n.*323C>A)
c.415C>A (p.Arg139Ser)
17g.74920113G>ACA502036566USH1Gc.723C>T (p.Ala241=)
c.*322C>T (n.*322C>T)
c.414C>T (p.Ala138=)
17g.74920113G>CCA502036567USH1Gc.723C>G (p.Ala241=)
c.*322C>G (n.*322C>G)
c.414C>G (p.Ala138=)
 ClinVar dbSNP
17g.74920113G>TCA502036570USH1Gc.723C>A (p.Ala241=)
c.*322C>A (n.*322C>A)
c.414C>A (p.Ala138=)
17g.74920114G>ACA400963685USH1Gc.722C>T (p.Ala241Val)
c.*321C>T (n.*321C>T)
c.413C>T (p.Ala138Val)
 ClinVar dbSNP gnomAD v4
17g.74920114G>CCA400963686USH1Gc.722C>G (p.Ala241Gly)
c.*321C>G (n.*321C>G)
c.413C>G (p.Ala138Gly)
17g.74920114G=CA2275255443USH1Gc.722C= (p.Ala241=)
c.*321C= (n.*321C=)
c.413C= (p.Ala138=)
17g.74920114G>TCA400963688USH1Gc.722C>A (p.Ala241Asp)
c.*321C>A (n.*321C>A)
c.413C>A (p.Ala138Asp)
17g.74920115C>ACA8754017USH1Gc.721G>T (p.Ala241Ser)
c.*320G>T (n.*320G>T)
c.412G>T (p.Ala138Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920115C=CA2275255444USH1Gc.721G= (p.Ala241=)
c.*320G= (n.*320G=)
c.412G= (p.Ala138=)
17g.74920115C>GCA400963690USH1Gc.721G>C (p.Ala241Pro)
c.*320G>C (n.*320G>C)
c.412G>C (p.Ala138Pro)
17g.74920115C>TCA400963691USH1Gc.721G>A (p.Ala241Thr)
c.*320G>A (n.*320G>A)
c.412G>A (p.Ala138Thr)
 gnomAD v4
17g.74920116G>ACA293984319USH1Gc.720C>T (p.Ser240=)
c.*319C>T (n.*319C>T)
c.411C>T (p.Ser137=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920116G>CCA400963693USH1Gc.720C>G (p.Ser240Arg)
c.*319C>G (n.*319C>G)
c.411C>G (p.Ser137Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920116G=CA2275255445USH1Gc.720C= (p.Ser240=)
c.*319C= (n.*319C=)
c.411C= (p.Ser137=)
17g.74920116G>TCA8754018USH1Gc.720C>A (p.Ser240Arg)
c.*319C>A (n.*319C>A)
c.411C>A (p.Ser137Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920116_74920118delinsGCTCA2275255446USH1Gc.718_720delinsAGC (p.Ser240=)
c.*317_*319delinsAGC (n.*317_*319delinsAGC)
c.409_411delinsAGC (p.Ser137=)
17g.74920117C>ACA400963696USH1Gc.719G>T (p.Ser240Ile)
c.*318G>T (n.*318G>T)
c.410G>T (p.Ser137Ile)
17g.74920117C=CA2275255447USH1Gc.719G= (p.Ser240=)
c.*318G= (n.*318G=)
c.410G= (p.Ser137=)
17g.74920117C>GCA400963698USH1Gc.719G>C (p.Ser240Thr)
c.*318G>C (n.*318G>C)
c.410G>C (p.Ser137Thr)
17g.74920117C>TCA400963695USH1Gc.719G>A (p.Ser240Asn)
c.*318G>A (n.*318G>A)
c.410G>A (p.Ser137Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.74920119_74920120delCA293984357USH1Gc.718_719del (p.Ser240ArgfsTer?)
c.*317_*318del (n.*317_*318del)
c.409_410del (p.Ser137ArgfsTer?)
 dbSNP
17g.74920118T>ACA400963701USH1Gc.718A>T (p.Ser240Cys)
c.*317A>T (n.*317A>T)
c.409A>T (p.Ser137Cys)
17g.74920118T>CCA400963704USH1Gc.718A>G (p.Ser240Gly)
c.*317A>G (n.*317A>G)
c.409A>G (p.Ser137Gly)
17g.74920118T>GCA400963702USH1Gc.718A>C (p.Ser240Arg)
c.*317A>C (n.*317A>C)
c.409A>C (p.Ser137Arg)
17g.74920119C>ACA400963706USH1Gc.717G>T (p.Lys239Asn)
c.*316G>T (n.*316G>T)
c.408G>T (p.Lys136Asn)
17g.74920119C=CA2275255448USH1Gc.717G= (p.Lys239=)
c.*316G= (n.*316G=)
c.408G= (p.Lys136=)
17g.74920119C>GCA184442USH1Gc.717G>C (p.Lys239Asn)
c.*316G>C (n.*316G>C)
c.408G>C (p.Lys136Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920119C>TCA502036579USH1Gc.717G>A (p.Lys239=)
c.*316G>A (n.*316G>A)
c.408G>A (p.Lys136=)

Number of alleles fetched