Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496418_2496434delCA2580091016TBC1D24c.270_286del (p.Pro91GlyfsTer?)
n.452_468del
ClinVar
16g.2496424G>ACA493366650TBC1D24c.276G>A (p.Leu92=)
n.458G>A
16g.2496424G>CCA493366651TBC1D24c.276G>C (p.Leu92=)
n.458G>C
16g.2496424G>TCA493366652TBC1D24c.276G>T (p.Leu92=)
n.458G>T
16g.2496425C>ACA394375301TBC1D24c.277C>A (p.Pro93Thr)
n.459C>A
16g.2496425C=CA2202259788TBC1D24c.277C= (p.Pro93=)
n.459C=
16g.2496425C>GCA394375303TBC1D24c.277C>G (p.Pro93Ala)
n.459C>G
16g.2496425C>TCA394375304TBC1D24c.277C>T (p.Pro93Ser)
n.459C>T
dbSNP gnomAD v2
16g.2496427delCA2631209428TBC1D24c.279del (p.Glu94SerfsTer13)
n.461del
gnomAD v4
16g.2496426C>ACA394375306TBC1D24c.278C>A (p.Pro93His)
n.460C>A
16g.2496426C>GCA394375308TBC1D24c.278C>G (p.Pro93Arg)
n.460C>G
16g.2496426C>TCA394375309TBC1D24c.278C>T (p.Pro93Leu)
n.460C>T
gnomAD v4
16g.2496427C>ACA276809616TBC1D24c.279C>A (p.Pro93=)
n.461C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496427C=CA2202259789TBC1D24c.279C= (p.Pro93=)
n.461C=
16g.2496427C>GCA493366655TBC1D24c.279C>G (p.Pro93=)
n.461C>G
dbSNP
16g.2496427C>TCA276809617TBC1D24c.279C>T (p.Pro93=)
n.461C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496428G>ACA394375311TBC1D24c.280G>A (p.Glu94Lys)
n.462G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496428G>CCA394375312TBC1D24c.280G>C (p.Glu94Gln)
n.462G>C
16g.2496428G=CA2202259790TBC1D24c.280G= (p.Glu94=)
n.462G=
16g.2496428G>TCA394375313TBC1D24c.280G>T (p.Glu94Ter)
n.462G>T
16g.2496429A>CCA394375320TBC1D24c.281A>C (p.Glu94Ala)
n.463A>C
16g.2496429A>GCA394375316TBC1D24c.281A>G (p.Glu94Gly)
n.463A>G
16g.2496429A>TCA394375318TBC1D24c.281A>T (p.Glu94Val)
n.463A>T
16g.2496430G>ACA276809618TBC1D24c.282G>A (p.Glu94=)
n.464G>A
dbSNP
16g.2496430G>CCA394375321TBC1D24c.282G>C (p.Glu94Asp)
n.464G>C
16g.2496430G=CA2202259791TBC1D24c.282G= (p.Glu94=)
n.464G=
16g.2496430G>TCA394375322TBC1D24c.282G>T (p.Glu94Asp)
n.464G>T
16g.2496431T>ACA394375325TBC1D24c.283T>A (p.Phe95Ile)
n.465T>A
16g.2496431T>CCA394375326TBC1D24c.283T>C (p.Phe95Leu)
n.465T>C
16g.2496431T>GCA7843964TBC1D24c.283T>G (p.Phe95Val)
n.465T>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496431T=CA2202259792TBC1D24c.283T= (p.Phe95=)
n.465T=
16g.2496432T>ACA394375331TBC1D24c.284T>A (p.Phe95Tyr)
n.466T>A
16g.2496432T>CCA394375333TBC1D24c.284T>C (p.Phe95Ser)
n.466T>C
ClinVar
16g.2496432T>GCA394375335TBC1D24c.284T>G (p.Phe95Cys)
n.466T>G
16g.2496433C>ACA394375338TBC1D24c.285C>A (p.Phe95Leu)
n.467C>A
16g.2496433C=CA2202259793TBC1D24c.285C= (p.Phe95=)
n.467C=
16g.2496433C>GCA394375341TBC1D24c.285C>G (p.Phe95Leu)
n.467C>G
ClinVar
16g.2496433C>TCA7843965TBC1D24c.285C>T (p.Phe95=)
n.467C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496434G>ACA276809619TBC1D24c.286G>A (p.Val96Met)
n.468G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496434G>CCA394375348TBC1D24c.286G>C (p.Val96Leu)
n.468G>C
ClinVar
16g.2496434G=CA2202259794TBC1D24c.286G= (p.Val96=)
n.468G=
16g.2496434G>TCA394375347TBC1D24c.286G>T (p.Val96Leu)
n.468G>T
16g.2496435T>ACA394375354TBC1D24c.287T>A (p.Val96Glu)
n.469T>A
16g.2496435T>CCA394375359TBC1D24c.287T>C (p.Val96Ala)
n.469T>C
16g.2496435T>GCA394375357TBC1D24c.287T>G (p.Val96Gly)
n.469T>G
16g.2496436G>ACA493366661TBC1D24c.288G>A (p.Val96=)
n.470G>A
gnomAD v4
16g.2496436G>CCA493366662TBC1D24c.288G>C (p.Val96=)
n.470G>C
16g.2496436G>TCA493366663TBC1D24c.288G>T (p.Val96=)
n.470G>T
16g.2496437G>ACA394375361TBC1D24c.289G>A (p.Asp97Asn)
n.471G>A
16g.2496437G>CCA394375366TBC1D24c.289G>C (p.Asp97His)
n.471G>C
16g.2496437G>TCA394375363TBC1D24c.289G>T (p.Asp97Tyr)
n.471G>T
16g.2496438A>CCA394375368TBC1D24c.290A>C (p.Asp97Ala)
n.472A>C
16g.2496438A>GCA394375370TBC1D24c.290A>G (p.Asp97Gly)
n.472A>G
16g.2496438A>TCA394375372TBC1D24c.290A>T (p.Asp97Val)
n.472A>T
16g.2496439C>ACA394375373TBC1D24c.291C>A (p.Asp97Glu)
n.473C>A
16g.2496439C>GCA394375375TBC1D24c.291C>G (p.Asp97Glu)
n.473C>G
16g.2496439C>TCA493366664TBC1D24c.291C>T (p.Asp97=)
n.473C>T
ClinVar
16g.2496440A=CA2202259795TBC1D24c.292A= (p.Asn98=)
n.474A=
16g.2496440A>CCA394375377TBC1D24c.292A>C (p.Asn98His)
n.474A>C
16g.2496440A>GCA7843966TBC1D24c.292A>G (p.Asn98Asp)
n.474A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496440A>TCA394375379TBC1D24c.292A>T (p.Asn98Tyr)
n.474A>T
16g.2496441A>CCA394375382TBC1D24c.293A>C (p.Asn98Thr)
n.475A>C
16g.2496441A>GCA394375383TBC1D24c.293A>G (p.Asn98Ser)
n.475A>G
16g.2496441A>TCA394375385TBC1D24c.293A>T (p.Asn98Ile)
n.475A>T
16g.2496442C>ACA394375388TBC1D24c.294C>A (p.Asn98Lys)
n.476C>A
16g.2496442C>GCA394375390TBC1D24c.294C>G (p.Asn98Lys)
n.476C>G
16g.2496442C>TCA493366667TBC1D24c.294C>T (p.Asn98=)
n.476C>T
16g.2496443A>CCA394375392TBC1D24c.295A>C (p.Thr99Pro)
n.477A>C
16g.2496443A>GCA394375394TBC1D24c.295A>G (p.Thr99Ala)
n.477A>G
gnomAD v4
16g.2496443A>TCA394375393TBC1D24c.295A>T (p.Thr99Ser)
n.477A>T
16g.2496444C>ACA394375396TBC1D24c.296C>A (p.Thr99Lys)
n.478C>A
16g.2496444C=CA2202259796TBC1D24c.296C= (p.Thr99=)
n.478C=
16g.2496444C>GCA394375398TBC1D24c.296C>G (p.Thr99Arg)
n.478C>G
16g.2496444C>TCA276809620TBC1D24c.296C>T (p.Thr99Met)
n.478C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496445G>ACA7843967TBC1D24c.297G>A (p.Thr99=)
n.479G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496445G>CCA493366673TBC1D24c.297G>C (p.Thr99=)
n.479G>C
16g.2496445G=CA2202259797TBC1D24c.297G= (p.Thr99=)
n.479G=
16g.2496445G>TCA493366672TBC1D24c.297G>T (p.Thr99=)
n.479G>T
16g.2496446C>ACA394375400TBC1D24c.298C>A (p.Gln100Lys)
n.480C>A
16g.2496446C=CA2202259798TBC1D24c.298C= (p.Gln100=)
n.480C=
16g.2496446C>GCA394375401TBC1D24c.298C>G (p.Gln100Glu)
n.480C>G
16g.2496446C>TCA394375403TBC1D24c.298C>T (p.Gln100Ter)
n.480C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496447A=CA2202259799TBC1D24c.299A= (p.Gln100=)
n.481A=
16g.2496447A>CCA394375406TBC1D24c.299A>C (p.Gln100Pro)
n.481A>C
gnomAD v4
16g.2496447A>GCA394375407TBC1D24c.299A>G (p.Gln100Arg)
n.481A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496447A>TCA394375409TBC1D24c.299A>T (p.Gln100Leu)
n.481A>T
ClinVar dbSNP
16g.2496448G>ACA493366677TBC1D24c.300G>A (p.Gln100=)
n.482G>A
16g.2496448G>CCA394375411TBC1D24c.300G>C (p.Gln100His)
n.482G>C
16g.2496448G>TCA394375413TBC1D24c.300G>T (p.Gln100His)
n.482G>T
16g.2496449G>ACA394375415TBC1D24c.301G>A (p.Val101Met)
n.483G>A
16g.2496449G>CCA394375418TBC1D24c.301G>C (p.Val101Leu)
n.483G>C
gnomAD v4
16g.2496449G>TCA394375420TBC1D24c.301G>T (p.Val101Leu)
n.483G>T
16g.2496450T>ACA394375422TBC1D24c.302T>A (p.Val101Glu)
n.484T>A
16g.2496450T>CCA394375424TBC1D24c.302T>C (p.Val101Ala)
n.484T>C
16g.2496450T>GCA394375426TBC1D24c.302T>G (p.Val101Gly)
n.484T>G
dbSNP
16g.2496450T=CA2202259800TBC1D24c.302T= (p.Val101=)
n.484T=
16g.2496451G>ACA7843968TBC1D24c.303G>A (p.Val101=)
n.485G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496451G>CCA493366679TBC1D24c.303G>C (p.Val101=)
n.485G>C
16g.2496451G=CA2202259801TBC1D24c.303G= (p.Val101=)
n.485G=
16g.2496451G>TCA493366681TBC1D24c.303G>T (p.Val101=)
n.485G>T
gnomAD v4
16g.2496452C>ACA394375429TBC1D24c.304C>A (p.Pro102Thr)
n.486C>A
16g.2496452C=CA2202259802TBC1D24c.304C= (p.Pro102=)
n.486C=
16g.2496452C>GCA7843969TBC1D24c.304C>G (p.Pro102Ala)
n.486C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496452C>TCA394375432TBC1D24c.304C>T (p.Pro102Ser)
n.486C>T
gnomAD v4
16g.2496453C>ACA394375434TBC1D24c.305C>A (p.Pro102His)
n.487C>A
16g.2496453C>GCA394375436TBC1D24c.305C>G (p.Pro102Arg)
n.487C>G
16g.2496453C>TCA394375438TBC1D24c.305C>T (p.Pro102Leu)
n.487C>T
gnomAD v4
16g.2496454C>ACA493366686TBC1D24c.306C>A (p.Pro102=)
n.488C>A
16g.2496454C>GCA493366687TBC1D24c.306C>G (p.Pro102=)
n.488C>G
16g.2496454C>TCA493366685TBC1D24c.306C>T (p.Pro102=)
n.488C>T
gnomAD v4
16g.2496455A>CCA394375444TBC1D24c.307A>C (p.Ser103Arg)
n.489A>C
16g.2496455A>GCA394375441TBC1D24c.307A>G (p.Ser103Gly)
n.489A>G
dbSNP
16g.2496455A>TCA394375443TBC1D24c.307A>T (p.Ser103Cys)
n.489A>T
16g.2496456G>ACA7843970TBC1D24c.308G>A (p.Ser103Asn)
n.490G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496456G>CCA394375448TBC1D24c.308G>C (p.Ser103Thr)
n.490G>C
16g.2496456G=CA2202259803TBC1D24c.308G= (p.Ser103=)
n.490G=
16g.2496456G>TCA394375450TBC1D24c.308G>T (p.Ser103Ile)
n.490G>T
16g.2496457C>ACA394375452TBC1D24c.309C>A (p.Ser103Arg)
n.491C>A
16g.2496457C>GCA394375454TBC1D24c.309C>G (p.Ser103Arg)
n.491C>G
16g.2496457C>TCA493366691TBC1D24c.309C>T (p.Ser103=)
n.491C>T
16g.2496457dupCA2740096856TBC1D24c.309dup (p.Tyr104LeufsTer?)
n.491dup
ClinVar
16g.2496458T>ACA394375456TBC1D24c.310T>A (p.Tyr104Asn)
n.492T>A
16g.2496458T>CCA394375458TBC1D24c.310T>C (p.Tyr104His)
n.492T>C
16g.2496458T>GCA394375460TBC1D24c.310T>G (p.Tyr104Asp)
n.492T>G
16g.2496459A=CA2202259804TBC1D24c.311A= (p.Tyr104=)
n.493A=
16g.2496459A>CCA394375462TBC1D24c.311A>C (p.Tyr104Ser)
n.493A>C
16g.2496459A>GCA394375464TBC1D24c.311A>G (p.Tyr104Cys)
n.493A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496459A>TCA394375466TBC1D24c.311A>T (p.Tyr104Phe)
n.493A>T
16g.2496460C>ACA394375472TBC1D24c.312C>A (p.Tyr104Ter)
n.494C>A
16g.2496460C=CA2202259805TBC1D24c.312C= (p.Tyr104=)
n.494C=
16g.2496460C>GCA394375469TBC1D24c.312C>G (p.Tyr104Ter)
n.494C>G
16g.2496460C>TCA7843971TBC1D24c.312C>T (p.Tyr104=)
n.494C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496461T>ACA394375475TBC1D24c.313T>A (p.Cys105Ser)
n.495T>A
16g.2496461T>CCA347138TBC1D24c.313T>C (p.Cys105Arg)
n.495T>C
ClinVar dbSNP
16g.2496461T>GCA394375476TBC1D24c.313T>G (p.Cys105Gly)
n.495T>G
16g.2496461T=CA2202259806TBC1D24c.313T= (p.Cys105=)
n.495T=
16g.2496462G>ACA394375478TBC1D24c.314G>A (p.Cys105Tyr)
n.496G>A
gnomAD v4
16g.2496462G>CCA394375480TBC1D24c.314G>C (p.Cys105Ser)
n.496G>C
16g.2496462G>TCA394375481TBC1D24c.314G>T (p.Cys105Phe)
n.496G>T
16g.2496463C>ACA394375482TBC1D24c.315C>A (p.Cys105Ter)
n.497C>A
16g.2496463C>GCA394375484TBC1D24c.315C>G (p.Cys105Trp)
n.497C>G
16g.2496463C>TCA493366693TBC1D24c.315C>T (p.Cys105=)
n.497C>T
16g.2496464C>ACA394375485TBC1D24c.316C>A (p.Leu106Met)
n.498C>A
16g.2496464C>GCA394375488TBC1D24c.316C>G (p.Leu106Val)
n.498C>G
16g.2496464C>TCA493366695TBC1D24c.316C>T (p.Leu106=)
n.498C>T
gnomAD v4
16g.2496465T>ACA394375490TBC1D24c.317T>A (p.Leu106Gln)
n.499T>A
ClinVar
16g.2496465T>CCA394375492TBC1D24c.317T>C (p.Leu106Pro)
n.499T>C
gnomAD v4
16g.2496465T>GCA394375494TBC1D24c.317T>G (p.Leu106Arg)
n.499T>G
16g.2496466G>ACA493366696TBC1D24c.318G>A (p.Leu106=)
n.500G>A
16g.2496466G>CCA493366698TBC1D24c.318G>C (p.Leu106=)
n.500G>C
16g.2496466G>TCA493366697TBC1D24c.318G>T (p.Leu106=)
n.500G>T
gnomAD v4
16g.2496467A>CCA394375500TBC1D24c.319A>C (p.Asn107His)
n.501A>C
16g.2496467A>GCA394375498TBC1D24c.319A>G (p.Asn107Asp)
n.501A>G
16g.2496467A>TCA394375496TBC1D24c.319A>T (p.Asn107Tyr)
n.501A>T
16g.2496468A>CCA394375502TBC1D24c.320A>C (p.Asn107Thr)
n.502A>C
16g.2496468A>GCA394375504TBC1D24c.320A>G (p.Asn107Ser)
n.502A>G
16g.2496468A>TCA394375505TBC1D24c.320A>T (p.Asn107Ile)
n.502A>T
16g.2496469T>ACA16608138TBC1D24c.321T>A (p.Asn107Lys)
n.503T>A
ClinVar dbSNP gnomAD v4
16g.2496469T>CCA493366700TBC1D24c.321T>C (p.Asn107=)
n.503T>C
ClinVar
16g.2496469T>GCA394375506TBC1D24c.321T>G (p.Asn107Lys)
n.503T>G
16g.2496469T=CA2202259807TBC1D24c.321T= (p.Asn107=)
n.503T=
16g.2496470G>ACA394375508TBC1D24c.322G>A (p.Ala108Thr)
n.504G>A
16g.2496470G>CCA394375511TBC1D24c.322G>C (p.Ala108Pro)
n.504G>C
16g.2496470G>TCA394375513TBC1D24c.322G>T (p.Ala108Ser)
n.504G>T
16g.2496471C>ACA394375515TBC1D24c.323C>A (p.Ala108Glu)
n.505C>A
16g.2496471C>GCA394375517TBC1D24c.323C>G (p.Ala108Gly)
n.505C>G
16g.2496471C>TCA394375519TBC1D24c.323C>T (p.Ala108Val)
n.505C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496472A>CCA493366701TBC1D24c.324A>C (p.Ala108=)
n.506A>C
gnomAD v4
16g.2496472A>GCA493366703TBC1D24c.324A>G (p.Ala108=)
n.506A>G
16g.2496472A>TCA493366704TBC1D24c.324A>T (p.Ala108=)
n.506A>T
16g.2496473C>ACA394375522TBC1D24c.325C>A (p.Arg109Ser)
n.507C>A
ClinVar
16g.2496473C=CA2202259808TBC1D24c.325C= (p.Arg109=)
n.507C=
16g.2496473C>GCA7843972TBC1D24c.325C>G (p.Arg109Gly)
n.507C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496473C>TCA7843973TBC1D24c.325C>T (p.Arg109Cys)
n.507C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496474G>ACA7843974TBC1D24c.326G>A (p.Arg109His)
n.508G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496474G>CCA394375529TBC1D24c.326G>C (p.Arg109Pro)
n.508G>C
16g.2496474G=CA2202259809TBC1D24c.326G= (p.Arg109=)
n.508G=
16g.2496474G>TCA394375525TBC1D24c.326G>T (p.Arg109Leu)
n.508G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496475C>ACA7843975TBC1D24c.327C>A (p.Arg109=)
n.509C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496475C=CA2202259810TBC1D24c.327C= (p.Arg109=)
n.509C=
16g.2496475C>GCA493366705TBC1D24c.327C>G (p.Arg109=)
n.509C>G
gnomAD v4
16g.2496475C>TCA7843976TBC1D24c.327C>T (p.Arg109=)
n.509C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496476G>ACA347140TBC1D24c.328G>A (p.Gly110Ser)
n.510G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496476G>CCA394375534TBC1D24c.328G>C (p.Gly110Arg)
n.510G>C
16g.2496476G=CA2202259811TBC1D24c.328G= (p.Gly110=)
n.510G=
16g.2496476G>TCA394375536TBC1D24c.328G>T (p.Gly110Cys)
n.510G>T
16g.2496477G>ACA394375538TBC1D24c.329G>A (p.Gly110Asp)
n.511G>A
16g.2496477G>CCA394375539TBC1D24c.329G>C (p.Gly110Ala)
n.511G>C
16g.2496477G>TCA394375541TBC1D24c.329G>T (p.Gly110Val)
n.511G>T
16g.2496478C>ACA493366706TBC1D24c.330C>A (p.Gly110=)
n.512C>A
gnomAD v4
16g.2496478C=CA2202259812TBC1D24c.330C= (p.Gly110=)
n.512C=
16g.2496478C>GCA493366707TBC1D24c.330C>G (p.Gly110=)
n.512C>G
16g.2496478C>TCA7843977TBC1D24c.330C>T (p.Gly110=)
n.512C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G>ACA7843978TBC1D24c.331G>A (p.Glu111Lys)
n.513G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G>CCA394375544TBC1D24c.331G>C (p.Glu111Gln)
n.513G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496479G=CA2202259813TBC1D24c.331G= (p.Glu111=)
n.513G=
16g.2496479G>TCA394375546TBC1D24c.331G>T (p.Glu111Ter)
n.513G>T
gnomAD v4
16g.2496480A>CCA394375553TBC1D24c.332A>C (p.Glu111Ala)
n.514A>C
16g.2496480A>GCA394375551TBC1D24c.332A>G (p.Glu111Gly)
n.514A>G
16g.2496480A>TCA394375549TBC1D24c.332A>T (p.Glu111Val)
n.514A>T
16g.2496481G>ACA7843979TBC1D24c.333G>A (p.Glu111=)
n.515G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496481G>CCA394375555TBC1D24c.333G>C (p.Glu111Asp)
n.515G>C
16g.2496481G=CA2202259814TBC1D24c.333G= (p.Glu111=)
n.515G=
16g.2496481G>TCA394375558TBC1D24c.333G>T (p.Glu111Asp)
n.515G>T
ClinVar
16g.2496485dupCA2740096857TBC1D24c.337dup (p.Ala113GlyfsTer?)
n.519dup
ClinVar
16g.2496485delCA2631209600TBC1D24c.337del (p.Ala113ProfsTer?)
n.519del
gnomAD v4
16g.2496482G>ACA394375560TBC1D24c.334G>A (p.Gly112Arg)
n.516G>A
16g.2496482G>CCA394375562TBC1D24c.334G>C (p.Gly112Arg)
n.516G>C
gnomAD v4 COSMIC
16g.2496482G>TCA394375564TBC1D24c.334G>T (p.Gly112Trp)
n.516G>T
gnomAD v4
16g.2496483G>ACA394375566TBC1D24c.335G>A (p.Gly112Glu)
n.517G>A
ClinVar gnomAD v4
16g.2496483G>CCA394375568TBC1D24c.335G>C (p.Gly112Ala)
n.517G>C
16g.2496483G>TCA394375570TBC1D24c.335G>T (p.Gly112Val)
n.517G>T
gnomAD v4
16g.2496484G>ACA493366709TBC1D24c.336G>A (p.Gly112=)
n.518G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496484G>CCA493366710TBC1D24c.336G>C (p.Gly112=)
n.518G>C
16g.2496484G=CA2202259815TBC1D24c.336G= (p.Gly112=)
n.518G=
16g.2496484G>TCA493366712TBC1D24c.336G>T (p.Gly112=)
n.518G>T
16g.2496485G>ACA394375573TBC1D24c.337G>A (p.Ala113Thr)
n.519G>A
dbSNP gnomAD v2
16g.2496485G>CCA394375575TBC1D24c.337G>C (p.Ala113Pro)
n.519G>C
gnomAD v4
16g.2496485G=CA2202259816TBC1D24c.337G= (p.Ala113=)
n.519G=
16g.2496485G>TCA394375577TBC1D24c.337G>T (p.Ala113Ser)
n.519G>T
16g.2496486C>ACA053198TBC1D24c.338C>A (p.Ala113Asp)
n.520C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496486C=CA2202259817TBC1D24c.338C= (p.Ala113=)
n.520C=
16g.2496486C>GCA394375582TBC1D24c.338C>G (p.Ala113Gly)
n.520C>G
16g.2496486C>TCA394375580TBC1D24c.338C>T (p.Ala113Val)
n.520C>T
gnomAD v4
16g.2496487C>ACA493366713TBC1D24c.339C>A (p.Ala113=)
n.521C>A
ClinVar
16g.2496487C=CA2202259818TBC1D24c.339C= (p.Ala113=)
n.521C=
16g.2496487C>GCA493366714TBC1D24c.339C>G (p.Ala113=)
n.521C>G
16g.2496487C>TCA493366715TBC1D24c.339C>T (p.Ala113=)
n.521C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496488G>ACA319013TBC1D24c.340G>A (p.Val114Met)
n.522G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496488G>CCA394375586TBC1D24c.340G>C (p.Val114Leu)
n.522G>C
16g.2496488G=CA2202259819TBC1D24c.340G= (p.Val114=)
n.522G=
16g.2496488G>TCA394375583TBC1D24c.340G>T (p.Val114Leu)
n.522G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496489T>ACA394375589TBC1D24c.341T>A (p.Val114Glu)
n.523T>A
16g.2496489T>CCA394375592TBC1D24c.341T>C (p.Val114Ala)
n.523T>C
16g.2496489T>GCA394375591TBC1D24c.341T>G (p.Val114Gly)
n.523T>G
dbSNP
16g.2496489T=CA2202259820TBC1D24c.341T= (p.Val114=)
n.523T=
16g.2496490G>ACA493366717TBC1D24c.342G>A (p.Val114=)
n.524G>A
dbSNP
16g.2496490G>CCA493366718TBC1D24c.342G>C (p.Val114=)
n.524G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496490G=CA2202259821TBC1D24c.342G= (p.Val114=)
n.524G=
16g.2496490G>TCA493366719TBC1D24c.342G>T (p.Val114=)
n.524G>T
gnomAD v4
16g.2496491C>ACA394375594TBC1D24c.343C>A (p.Arg115Ser)
n.525C>A
16g.2496491C=CA2202259822TBC1D24c.343C= (p.Arg115=)
n.525C=
16g.2496491C>GCA394375598TBC1D24c.343C>G (p.Arg115Gly)
n.525C>G
dbSNP gnomAD v4
16g.2496491C>TCA319015TBC1D24c.343C>T (p.Arg115Cys)
n.525C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496492G>ACA319018TBC1D24c.344G>A (p.Arg115His)
n.526G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496492G>CCA394375603TBC1D24c.344G>C (p.Arg115Pro)
n.526G>C
16g.2496492G=CA2202259823TBC1D24c.344G= (p.Arg115=)
n.526G=
16g.2496492G>TCA7843980TBC1D24c.344G>T (p.Arg115Leu)
n.526G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496493C>ACA493366721TBC1D24c.345C>A (p.Arg115=)
n.527C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496493C=CA2202259824TBC1D24c.345C= (p.Arg115=)
n.527C=
16g.2496493C>GCA493366722TBC1D24c.345C>G (p.Arg115=)
n.527C>G
16g.2496493C>TCA493366723TBC1D24c.345C>T (p.Arg115=)
n.527C>T
16g.2496494A=CA2202259825TBC1D24c.346A= (p.Lys116=)
n.528A=
16g.2496494A>CCA394375606TBC1D24c.346A>C (p.Lys116Gln)
n.528A>C
16g.2496494A>GCA394375608TBC1D24c.346A>G (p.Lys116Glu)
n.528A>G
16g.2496494A>TCA394375609TBC1D24c.346A>T (p.Lys116Ter)
n.528A>T
ClinVar dbSNP
16g.2496495A=CA2202259826TBC1D24c.347A= (p.Lys116=)
n.529A=
16g.2496495A>CCA394375610TBC1D24c.347A>C (p.Lys116Thr)
n.529A>C
16g.2496495A>GCA276809621TBC1D24c.347A>G (p.Lys116Arg)
n.529A>G
dbSNP gnomAD v4
16g.2496495A>TCA394375612TBC1D24c.347A>T (p.Lys116Met)
n.529A>T
16g.2496496G>ACA7843981TBC1D24c.348G>A (p.Lys116=)
n.530G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496496G>CCA394375614TBC1D24c.348G>C (p.Lys116Asn)
n.530G>C
16g.2496496G=CA2202259827TBC1D24c.348G= (p.Lys116=)
n.530G=
16g.2496496G>TCA394375615TBC1D24c.348G>T (p.Lys116Asn)
n.530G>T
ClinVar gnomAD v4
16g.2496497A>CCA394375616TBC1D24c.349A>C (p.Ile117Leu)
n.531A>C
16g.2496497A>GCA394375618TBC1D24c.349A>G (p.Ile117Val)
n.531A>G
16g.2496497A>TCA394375620TBC1D24c.349A>T (p.Ile117Phe)
n.531A>T
16g.2496498T>ACA394375626TBC1D24c.350T>A (p.Ile117Asn)
n.532T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496498T>CCA394375624TBC1D24c.350T>C (p.Ile117Thr)
n.532T>C
16g.2496498T>GCA394375622TBC1D24c.350T>G (p.Ile117Ser)
n.532T>G
16g.2496498T=CA2202259828TBC1D24c.350T= (p.Ile117=)
n.532T=
16g.2496499C>ACA493366725TBC1D24c.351C>A (p.Ile117=)
n.533C>A
16g.2496499C>GCA394375627TBC1D24c.351C>G (p.Ile117Met)
n.533C>G
16g.2496499C>TCA493366726TBC1D24c.351C>T (p.Ile117=)
n.533C>T
COSMIC
16g.2496500delCA2580091023TBC1D24c.352del (p.Leu118SerfsTer?)
n.534del
ClinVar gnomAD v4
16g.2496500C>ACA394375628TBC1D24c.352C>A (p.Leu118Ile)
n.534C>A
16g.2496500C=CA2202259829TBC1D24c.352C= (p.Leu118=)
n.534C=
16g.2496500C>GCA7843982TBC1D24c.352C>G (p.Leu118Val)
n.534C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496500C>TCA394375630TBC1D24c.352C>T (p.Leu118Phe)
n.534C>T
ClinVar
16g.2496501T>ACA394375632TBC1D24c.353T>A (p.Leu118His)
n.535T>A
16g.2496501T>CCA394375633TBC1D24c.353T>C (p.Leu118Pro)
n.535T>C
16g.2496501T>GCA394375634TBC1D24c.353T>G (p.Leu118Arg)
n.535T>G
16g.2496502C>ACA493366728TBC1D24c.354C>A (p.Leu118=)
n.536C>A
16g.2496502C>GCA493366729TBC1D24c.354C>G (p.Leu118=)
n.536C>G
ClinVar dbSNP
16g.2496502C>TCA493366730TBC1D24c.354C>T (p.Leu118=)
n.536C>T
16g.2496503C>ACA394375636TBC1D24c.355C>A (p.Leu119Met)
n.537C>A
16g.2496503C>GCA394375637TBC1D24c.355C>G (p.Leu119Val)
n.537C>G
16g.2496503C>TCA493366732TBC1D24c.355C>T (p.Leu119=)
n.537C>T
16g.2496504T>ACA394375639TBC1D24c.356T>A (p.Leu119Gln)
n.538T>A
16g.2496504T>CCA394375641TBC1D24c.356T>C (p.Leu119Pro)
n.538T>C
gnomAD v4
16g.2496504T>GCA394375643TBC1D24c.356T>G (p.Leu119Arg)
n.538T>G
16g.2496505delCA2631209670TBC1D24c.357del (p.Cys120AlafsTer?)
n.539del
gnomAD v4
16g.2496505G>ACA493366733TBC1D24c.357G>A (p.Leu119=)
n.539G>A
16g.2496505G>CCA493366734TBC1D24c.357G>C (p.Leu119=)
n.539G>C
gnomAD v4
16g.2496505G=CA2202259830TBC1D24c.357G= (p.Leu119=)
n.539G=
16g.2496505G>TCA493366735TBC1D24c.357G>T (p.Leu119=)
n.539G>T
dbSNP
16g.2496506T>ACA394375645TBC1D24c.358T>A (p.Cys120Ser)
n.540T>A
16g.2496506T>CCA276809622TBC1D24c.358T>C (p.Cys120Arg)
n.540T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496506T>GCA394375647TBC1D24c.358T>G (p.Cys120Gly)
n.540T>G
16g.2496506T=CA2202259831TBC1D24c.358T= (p.Cys120=)
n.540T=
16g.2496507G>ACA394375651TBC1D24c.359G>A (p.Cys120Tyr)
n.541G>A
16g.2496507G>CCA394375652TBC1D24c.359G>C (p.Cys120Ser)
n.541G>C
16g.2496507G>TCA394375653TBC1D24c.359G>T (p.Cys120Phe)
n.541G>T
gnomAD v4
16g.2496508C>ACA7843983TBC1D24c.360C>A (p.Cys120Ter)
n.542C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496508C=CA2202259832TBC1D24c.360C= (p.Cys120=)
n.542C=
16g.2496508C>GCA394375656TBC1D24c.360C>G (p.Cys120Trp)
n.542C>G
16g.2496508C>TCA493366597TBC1D24c.360C>T (p.Cys120=)
n.542C>T
gnomAD v4
16g.2496509C>ACA394375658TBC1D24c.361C>A (p.Leu121Met)
n.543C>A
16g.2496509C=CA2202259833TBC1D24c.361C= (p.Leu121=)
n.543C=
16g.2496509C>GCA394375660TBC1D24c.361C>G (p.Leu121Val)
n.543C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496509C>TCA493366598TBC1D24c.361C>T (p.Leu121=)
n.543C>T
16g.2496510T>ACA394375662TBC1D24c.362T>A (p.Leu121Gln)
n.544T>A
16g.2496510T>CCA394375663TBC1D24c.362T>C (p.Leu121Pro)
n.544T>C
16g.2496510T>GCA394375665TBC1D24c.362T>G (p.Leu121Arg)
n.544T>G
16g.2496511G>ACA493366599TBC1D24c.363G>A (p.Leu121=)
n.545G>A
16g.2496511G>CCA493366600TBC1D24c.363G>C (p.Leu121=)
n.545G>C
16g.2496511G>TCA493366601TBC1D24c.363G>T (p.Leu121=)
n.545G>T
gnomAD v4
16g.2496512G>ACA394375671TBC1D24c.364G>A (p.Ala122Thr)
n.546G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496512G>CCA394375669TBC1D24c.364G>C (p.Ala122Pro)
n.546G>C
gnomAD v4
16g.2496512G=CA2202259834TBC1D24c.364G= (p.Ala122=)
n.546G=
16g.2496512G>TCA394375667TBC1D24c.364G>T (p.Ala122Ser)
n.546G>T
16g.2496513C>ACA394375673TBC1D24c.365C>A (p.Ala122Asp)
n.547C>A
gnomAD v4
16g.2496513C>GCA394375675TBC1D24c.365C>G (p.Ala122Gly)
n.547C>G
16g.2496513C>TCA394375676TBC1D24c.365C>T (p.Ala122Val)
n.547C>T
16g.2496514C>ACA493366605TBC1D24c.366C>A (p.Ala122=)
n.548C>A
16g.2496514C=CA2202259835TBC1D24c.366C= (p.Ala122=)
n.548C=
16g.2496514C>GCA493366606TBC1D24c.366C>G (p.Ala122=)
n.548C>G
16g.2496514C>TCA7843984TBC1D24c.366C>T (p.Ala122=)
n.548C>T
dbSNP ExAC gnomAD v4
16g.2496515A=CA2202259836TBC1D24c.367A= (p.Asn123=)
n.549A=
16g.2496515A>CCA394375680TBC1D24c.367A>C (p.Asn123His)
n.549A>C
16g.2496515A>GCA394375682TBC1D24c.367A>G (p.Asn123Asp)
n.549A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496515A>TCA394375683TBC1D24c.367A>T (p.Asn123Tyr)
n.549A>T
16g.2496516A=CA2202259837TBC1D24c.368A= (p.Asn123=)
n.550A=
16g.2496516A>CCA394375685TBC1D24c.368A>C (p.Asn123Thr)
n.550A>C
16g.2496516A>GCA394375686TBC1D24c.368A>G (p.Asn123Ser)
n.550A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496516A>TCA394375688TBC1D24c.368A>T (p.Asn123Ile)
n.550A>T
16g.2496517C>ACA394375690TBC1D24c.369C>A (p.Asn123Lys)
n.551C>A
16g.2496517C>GCA394375692TBC1D24c.369C>G (p.Asn123Lys)
n.551C>G
16g.2496517C>TCA493366610TBC1D24c.369C>T (p.Asn123=)
n.551C>T
16g.2496518C>ACA394375696TBC1D24c.370C>A (p.Gln124Lys)
n.552C>A
ClinVar dbSNP
16g.2496518C>GCA394375698TBC1D24c.370C>G (p.Gln124Glu)
n.552C>G
16g.2496518C>TCA394375695TBC1D24c.370C>T (p.Gln124Ter)
n.552C>T
gnomAD v4
16g.2496519A>CCA394375705TBC1D24c.371A>C (p.Gln124Pro)
n.553A>C
16g.2496519A>GCA394375701TBC1D24c.371A>G (p.Gln124Arg)
n.553A>G
gnomAD v4
16g.2496519A>TCA394375703TBC1D24c.371A>T (p.Gln124Leu)
n.553A>T
16g.2496520G>ACA493366612TBC1D24c.372G>A (p.Gln124=)
n.554G>A
16g.2496520G>CCA394375706TBC1D24c.372G>C (p.Gln124His)
n.554G>C
16g.2496520G>TCA394375707TBC1D24c.372G>T (p.Gln124His)
n.554G>T
16g.2496521T>ACA394375709TBC1D24c.373T>A (p.Phe125Ile)
n.555T>A
16g.2496521T>CCA394375711TBC1D24c.373T>C (p.Phe125Leu)
n.555T>C
ClinVar dbSNP
16g.2496521T>GCA394375714TBC1D24c.373T>G (p.Phe125Val)
n.555T>G
16g.2496521T=CA2202259838TBC1D24c.373T= (p.Phe125=)
n.555T=
16g.2496522T>ACA394375716TBC1D24c.374T>A (p.Phe125Tyr)
n.556T>A
16g.2496522T>CCA394375718TBC1D24c.374T>C (p.Phe125Ser)
n.556T>C
16g.2496522T>GCA394375719TBC1D24c.374T>G (p.Phe125Cys)
n.556T>G
16g.2496523C>ACA394375721TBC1D24c.375C>A (p.Phe125Leu)
n.557C>A
16g.2496523C=CA2202259839TBC1D24c.375C= (p.Phe125=)
n.557C=
16g.2496523C>GCA394375723TBC1D24c.375C>G (p.Phe125Leu)
n.557C>G
16g.2496523C>TCA493366614TBC1D24c.375C>T (p.Phe125=)
n.557C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496524C>ACA394375729TBC1D24c.376C>A (p.Pro126Thr)
n.558C>A
16g.2496524C=CA2202259840TBC1D24c.376C= (p.Pro126=)
n.558C=
16g.2496524C>GCA394375727TBC1D24c.376C>G (p.Pro126Ala)
n.558C>G
16g.2496524C>TCA394375726TBC1D24c.376C>T (p.Pro126Ser)
n.558C>T
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched