Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.28141745C>ACA489235005HERC2c.11802G>T (p.Val3934=)
c.3513G>T (p.Val1171=)
n.317G>T
c.11688G>T (p.Val3896=)
c.11787G>T (p.Val3929=)
c.11544G>T (p.Val3848=)
c.11319G>T (p.Val3773=)
c.9318G>T (p.Val3106=)
c.8547G>T (p.Val2849=)
c.5919G>T (p.Val1973=)
c.4968G>T (p.Val1656=)
15g.28141745C>GCA489235006HERC2c.11802G>C (p.Val3934=)
c.3513G>C (p.Val1171=)
n.317G>C
c.11688G>C (p.Val3896=)
c.11787G>C (p.Val3929=)
c.11544G>C (p.Val3848=)
c.11319G>C (p.Val3773=)
c.9318G>C (p.Val3106=)
c.8547G>C (p.Val2849=)
c.5919G>C (p.Val1973=)
c.4968G>C (p.Val1656=)
15g.28141745C>TCA489235007HERC2c.11802G>A (p.Val3934=)
c.3513G>A (p.Val1171=)
n.317G>A
c.11688G>A (p.Val3896=)
c.11787G>A (p.Val3929=)
c.11544G>A (p.Val3848=)
c.11319G>A (p.Val3773=)
c.9318G>A (p.Val3106=)
c.8547G>A (p.Val2849=)
c.5919G>A (p.Val1973=)
c.4968G>A (p.Val1656=)
 gnomAD v4
15g.28141746A>CCA391381826HERC2c.11801T>G (p.Val3934Gly)
c.3512T>G (p.Val1171Gly)
n.316T>G
c.11687T>G (p.Val3896Gly)
c.11786T>G (p.Val3929Gly)
c.11543T>G (p.Val3848Gly)
c.11318T>G (p.Val3773Gly)
c.9317T>G (p.Val3106Gly)
c.8546T>G (p.Val2849Gly)
c.5918T>G (p.Val1973Gly)
c.4967T>G (p.Val1656Gly)
15g.28141746A>GCA391381825HERC2c.11801T>C (p.Val3934Ala)
c.3512T>C (p.Val1171Ala)
n.316T>C
c.11687T>C (p.Val3896Ala)
c.11786T>C (p.Val3929Ala)
c.11543T>C (p.Val3848Ala)
c.11318T>C (p.Val3773Ala)
c.9317T>C (p.Val3106Ala)
c.8546T>C (p.Val2849Ala)
c.5918T>C (p.Val1973Ala)
c.4967T>C (p.Val1656Ala)
15g.28141746A>TCA391381824HERC2c.11801T>A (p.Val3934Glu)
c.3512T>A (p.Val1171Glu)
n.316T>A
c.11687T>A (p.Val3896Glu)
c.11786T>A (p.Val3929Glu)
c.11543T>A (p.Val3848Glu)
c.11318T>A (p.Val3773Glu)
c.9317T>A (p.Val3106Glu)
c.8546T>A (p.Val2849Glu)
c.5918T>A (p.Val1973Glu)
c.4967T>A (p.Val1656Glu)
15g.28141747C>ACA391381827HERC2c.11800G>T (p.Val3934Leu)
c.3511G>T (p.Val1171Leu)
n.315G>T
c.11686G>T (p.Val3896Leu)
c.11785G>T (p.Val3929Leu)
c.11542G>T (p.Val3848Leu)
c.11317G>T (p.Val3773Leu)
c.9316G>T (p.Val3106Leu)
c.8545G>T (p.Val2849Leu)
c.5917G>T (p.Val1973Leu)
c.4966G>T (p.Val1656Leu)
 gnomAD v4
15g.28141747C>GCA391381828HERC2c.11800G>C (p.Val3934Leu)
c.3511G>C (p.Val1171Leu)
n.315G>C
c.11686G>C (p.Val3896Leu)
c.11785G>C (p.Val3929Leu)
c.11542G>C (p.Val3848Leu)
c.11317G>C (p.Val3773Leu)
c.9316G>C (p.Val3106Leu)
c.8545G>C (p.Val2849Leu)
c.5917G>C (p.Val1973Leu)
c.4966G>C (p.Val1656Leu)
15g.28141747C>TCA391381829HERC2c.11800G>A (p.Val3934Met)
c.3511G>A (p.Val1171Met)
n.315G>A
c.11686G>A (p.Val3896Met)
c.11785G>A (p.Val3929Met)
c.11542G>A (p.Val3848Met)
c.11317G>A (p.Val3773Met)
c.9316G>A (p.Val3106Met)
c.8545G>A (p.Val2849Met)
c.5917G>A (p.Val1973Met)
c.4966G>A (p.Val1656Met)
 gnomAD v4
15g.28141748A=CA2166480079HERC2c.11799T= (p.Leu3933=)
c.3510T= (p.Leu1170=)
n.314T=
c.11685T= (p.Leu3895=)
c.11784T= (p.Leu3928=)
c.11541T= (p.Leu3847=)
c.11316T= (p.Leu3772=)
c.9315T= (p.Leu3105=)
c.8544T= (p.Leu2848=)
c.5916T= (p.Leu1972=)
c.4965T= (p.Leu1655=)
15g.28141748A>CCA489235009HERC2c.11799T>G (p.Leu3933=)
c.3510T>G (p.Leu1170=)
n.314T>G
c.11685T>G (p.Leu3895=)
c.11784T>G (p.Leu3928=)
c.11541T>G (p.Leu3847=)
c.11316T>G (p.Leu3772=)
c.9315T>G (p.Leu3105=)
c.8544T>G (p.Leu2848=)
c.5916T>G (p.Leu1972=)
c.4965T>G (p.Leu1655=)
 dbSNP
15g.28141748A>GCA489235011HERC2c.11799T>C (p.Leu3933=)
c.3510T>C (p.Leu1170=)
n.314T>C
c.11685T>C (p.Leu3895=)
c.11784T>C (p.Leu3928=)
c.11541T>C (p.Leu3847=)
c.11316T>C (p.Leu3772=)
c.9315T>C (p.Leu3105=)
c.8544T>C (p.Leu2848=)
c.5916T>C (p.Leu1972=)
c.4965T>C (p.Leu1655=)
15g.28141748A>TCA489235012HERC2c.11799T>A (p.Leu3933=)
c.3510T>A (p.Leu1170=)
n.314T>A
c.11685T>A (p.Leu3895=)
c.11784T>A (p.Leu3928=)
c.11541T>A (p.Leu3847=)
c.11316T>A (p.Leu3772=)
c.9315T>A (p.Leu3105=)
c.8544T>A (p.Leu2848=)
c.5916T>A (p.Leu1972=)
c.4965T>A (p.Leu1655=)
15g.28141749A>CCA391381830HERC2c.11798T>G (p.Leu3933Arg)
c.3509T>G (p.Leu1170Arg)
n.313T>G
c.11684T>G (p.Leu3895Arg)
c.11783T>G (p.Leu3928Arg)
c.11540T>G (p.Leu3847Arg)
c.11315T>G (p.Leu3772Arg)
c.9314T>G (p.Leu3105Arg)
c.8543T>G (p.Leu2848Arg)
c.5915T>G (p.Leu1972Arg)
c.4964T>G (p.Leu1655Arg)
15g.28141749A>GCA391381831HERC2c.11798T>C (p.Leu3933Pro)
c.3509T>C (p.Leu1170Pro)
n.313T>C
c.11684T>C (p.Leu3895Pro)
c.11783T>C (p.Leu3928Pro)
c.11540T>C (p.Leu3847Pro)
c.11315T>C (p.Leu3772Pro)
c.9314T>C (p.Leu3105Pro)
c.8543T>C (p.Leu2848Pro)
c.5915T>C (p.Leu1972Pro)
c.4964T>C (p.Leu1655Pro)
15g.28141749A>TCA391381832HERC2c.11798T>A (p.Leu3933His)
c.3509T>A (p.Leu1170His)
n.313T>A
c.11684T>A (p.Leu3895His)
c.11783T>A (p.Leu3928His)
c.11540T>A (p.Leu3847His)
c.11315T>A (p.Leu3772His)
c.9314T>A (p.Leu3105His)
c.8543T>A (p.Leu2848His)
c.5915T>A (p.Leu1972His)
c.4964T>A (p.Leu1655His)
15g.28141750G>ACA391381835HERC2c.11797C>T (p.Leu3933Phe)
c.3508C>T (p.Leu1170Phe)
n.312C>T
c.11683C>T (p.Leu3895Phe)
c.11782C>T (p.Leu3928Phe)
c.11539C>T (p.Leu3847Phe)
c.11314C>T (p.Leu3772Phe)
c.9313C>T (p.Leu3105Phe)
c.8542C>T (p.Leu2848Phe)
c.5914C>T (p.Leu1972Phe)
c.4963C>T (p.Leu1655Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.28141750G>CCA391381833HERC2c.11797C>G (p.Leu3933Val)
c.3508C>G (p.Leu1170Val)
n.312C>G
c.11683C>G (p.Leu3895Val)
c.11782C>G (p.Leu3928Val)
c.11539C>G (p.Leu3847Val)
c.11314C>G (p.Leu3772Val)
c.9313C>G (p.Leu3105Val)
c.8542C>G (p.Leu2848Val)
c.5914C>G (p.Leu1972Val)
c.4963C>G (p.Leu1655Val)
 dbSNP gnomAD v2 gnomAD v4
15g.28141750G=CA2166480081HERC2c.11797C= (p.Leu3933=)
c.3508C= (p.Leu1170=)
n.312C=
c.11683C= (p.Leu3895=)
c.11782C= (p.Leu3928=)
c.11539C= (p.Leu3847=)
c.11314C= (p.Leu3772=)
c.9313C= (p.Leu3105=)
c.8542C= (p.Leu2848=)
c.5914C= (p.Leu1972=)
c.4963C= (p.Leu1655=)
15g.28141750G>TCA391381834HERC2c.11797C>A (p.Leu3933Ile)
c.3508C>A (p.Leu1170Ile)
n.312C>A
c.11683C>A (p.Leu3895Ile)
c.11782C>A (p.Leu3928Ile)
c.11539C>A (p.Leu3847Ile)
c.11314C>A (p.Leu3772Ile)
c.9313C>A (p.Leu3105Ile)
c.8542C>A (p.Leu2848Ile)
c.5914C>A (p.Leu1972Ile)
c.4963C>A (p.Leu1655Ile)
15g.28141751T>ACA391381836HERC2c.11796A>T (p.Gln3932His)
c.3507A>T (p.Gln1169His)
n.311A>T
c.11682A>T (p.Gln3894His)
c.11781A>T (p.Gln3927His)
c.11538A>T (p.Gln3846His)
c.11313A>T (p.Gln3771His)
c.9312A>T (p.Gln3104His)
c.8541A>T (p.Gln2847His)
c.5913A>T (p.Gln1971His)
c.4962A>T (p.Gln1654His)
15g.28141751T>CCA489235014HERC2c.11796A>G (p.Gln3932=)
c.3507A>G (p.Gln1169=)
n.311A>G
c.11682A>G (p.Gln3894=)
c.11781A>G (p.Gln3927=)
c.11538A>G (p.Gln3846=)
c.11313A>G (p.Gln3771=)
c.9312A>G (p.Gln3104=)
c.8541A>G (p.Gln2847=)
c.5913A>G (p.Gln1971=)
c.4962A>G (p.Gln1654=)
15g.28141751T>GCA391381837HERC2c.11796A>C (p.Gln3932His)
c.3507A>C (p.Gln1169His)
n.311A>C
c.11682A>C (p.Gln3894His)
c.11781A>C (p.Gln3927His)
c.11538A>C (p.Gln3846His)
c.11313A>C (p.Gln3771His)
c.9312A>C (p.Gln3104His)
c.8541A>C (p.Gln2847His)
c.5913A>C (p.Gln1971His)
c.4962A>C (p.Gln1654His)
15g.28141752T>ACA391381838HERC2c.11795A>T (p.Gln3932Leu)
c.3506A>T (p.Gln1169Leu)
n.310A>T
c.11681A>T (p.Gln3894Leu)
c.11780A>T (p.Gln3927Leu)
c.11537A>T (p.Gln3846Leu)
c.11312A>T (p.Gln3771Leu)
c.9311A>T (p.Gln3104Leu)
c.8540A>T (p.Gln2847Leu)
c.5912A>T (p.Gln1971Leu)
c.4961A>T (p.Gln1654Leu)
15g.28141752T>CCA391381839HERC2c.11795A>G (p.Gln3932Arg)
c.3506A>G (p.Gln1169Arg)
n.310A>G
c.11681A>G (p.Gln3894Arg)
c.11780A>G (p.Gln3927Arg)
c.11537A>G (p.Gln3846Arg)
c.11312A>G (p.Gln3771Arg)
c.9311A>G (p.Gln3104Arg)
c.8540A>G (p.Gln2847Arg)
c.5912A>G (p.Gln1971Arg)
c.4961A>G (p.Gln1654Arg)
15g.28141752T>GCA391381840HERC2c.11795A>C (p.Gln3932Pro)
c.3506A>C (p.Gln1169Pro)
n.310A>C
c.11681A>C (p.Gln3894Pro)
c.11780A>C (p.Gln3927Pro)
c.11537A>C (p.Gln3846Pro)
c.11312A>C (p.Gln3771Pro)
c.9311A>C (p.Gln3104Pro)
c.8540A>C (p.Gln2847Pro)
c.5912A>C (p.Gln1971Pro)
c.4961A>C (p.Gln1654Pro)
15g.28141753G>ACA391381841HERC2c.11794C>T (p.Gln3932Ter)
c.3505C>T (p.Gln1169Ter)
n.309C>T
c.11680C>T (p.Gln3894Ter)
c.11779C>T (p.Gln3927Ter)
c.11536C>T (p.Gln3846Ter)
c.11311C>T (p.Gln3771Ter)
c.9310C>T (p.Gln3104Ter)
c.8539C>T (p.Gln2847Ter)
c.5911C>T (p.Gln1971Ter)
c.4960C>T (p.Gln1654Ter)
15g.28141753G>CCA391381843HERC2c.11794C>G (p.Gln3932Glu)
c.3505C>G (p.Gln1169Glu)
n.309C>G
c.11680C>G (p.Gln3894Glu)
c.11779C>G (p.Gln3927Glu)
c.11536C>G (p.Gln3846Glu)
c.11311C>G (p.Gln3771Glu)
c.9310C>G (p.Gln3104Glu)
c.8539C>G (p.Gln2847Glu)
c.5911C>G (p.Gln1971Glu)
c.4960C>G (p.Gln1654Glu)
15g.28141753G>TCA391381842HERC2c.11794C>A (p.Gln3932Lys)
c.3505C>A (p.Gln1169Lys)
n.309C>A
c.11680C>A (p.Gln3894Lys)
c.11779C>A (p.Gln3927Lys)
c.11536C>A (p.Gln3846Lys)
c.11311C>A (p.Gln3771Lys)
c.9310C>A (p.Gln3104Lys)
c.8539C>A (p.Gln2847Lys)
c.5911C>A (p.Gln1971Lys)
c.4960C>A (p.Gln1654Lys)
15g.28141754T>ACA391381844HERC2c.11793A>T (p.Glu3931Asp)
c.3504A>T (p.Glu1168Asp)
n.308A>T
c.11679A>T (p.Glu3893Asp)
c.11778A>T (p.Glu3926Asp)
c.11535A>T (p.Glu3845Asp)
c.11310A>T (p.Glu3770Asp)
c.9309A>T (p.Glu3103Asp)
c.8538A>T (p.Glu2846Asp)
c.5910A>T (p.Glu1970Asp)
c.4959A>T (p.Glu1653Asp)
15g.28141754T>CCA489235018HERC2c.11793A>G (p.Glu3931=)
c.3504A>G (p.Glu1168=)
n.308A>G
c.11679A>G (p.Glu3893=)
c.11778A>G (p.Glu3926=)
c.11535A>G (p.Glu3845=)
c.11310A>G (p.Glu3770=)
c.9309A>G (p.Glu3103=)
c.8538A>G (p.Glu2846=)
c.5910A>G (p.Glu1970=)
c.4959A>G (p.Glu1653=)
15g.28141754T>GCA391381845HERC2c.11793A>C (p.Glu3931Asp)
c.3504A>C (p.Glu1168Asp)
n.308A>C
c.11679A>C (p.Glu3893Asp)
c.11778A>C (p.Glu3926Asp)
c.11535A>C (p.Glu3845Asp)
c.11310A>C (p.Glu3770Asp)
c.9309A>C (p.Glu3103Asp)
c.8538A>C (p.Glu2846Asp)
c.5910A>C (p.Glu1970Asp)
c.4959A>C (p.Glu1653Asp)
15g.28141755T>ACA391381846HERC2c.11792A>T (p.Glu3931Val)
c.3503A>T (p.Glu1168Val)
n.307A>T
c.11678A>T (p.Glu3893Val)
c.11777A>T (p.Glu3926Val)
c.11534A>T (p.Glu3845Val)
c.11309A>T (p.Glu3770Val)
c.9308A>T (p.Glu3103Val)
c.8537A>T (p.Glu2846Val)
c.5909A>T (p.Glu1970Val)
c.4958A>T (p.Glu1653Val)
15g.28141755T>CCA391381847HERC2c.11792A>G (p.Glu3931Gly)
c.3503A>G (p.Glu1168Gly)
n.307A>G
c.11678A>G (p.Glu3893Gly)
c.11777A>G (p.Glu3926Gly)
c.11534A>G (p.Glu3845Gly)
c.11309A>G (p.Glu3770Gly)
c.9308A>G (p.Glu3103Gly)
c.8537A>G (p.Glu2846Gly)
c.5909A>G (p.Glu1970Gly)
c.4958A>G (p.Glu1653Gly)
15g.28141755T>GCA391381848HERC2c.11792A>C (p.Glu3931Ala)
c.3503A>C (p.Glu1168Ala)
n.307A>C
c.11678A>C (p.Glu3893Ala)
c.11777A>C (p.Glu3926Ala)
c.11534A>C (p.Glu3845Ala)
c.11309A>C (p.Glu3770Ala)
c.9308A>C (p.Glu3103Ala)
c.8537A>C (p.Glu2846Ala)
c.5909A>C (p.Glu1970Ala)
c.4958A>C (p.Glu1653Ala)
15g.28141756C>ACA391381849HERC2c.11791G>T (p.Glu3931Ter)
c.3502G>T (p.Glu1168Ter)
n.306G>T
c.11677G>T (p.Glu3893Ter)
c.11776G>T (p.Glu3926Ter)
c.11533G>T (p.Glu3845Ter)
c.11308G>T (p.Glu3770Ter)
c.9307G>T (p.Glu3103Ter)
c.8536G>T (p.Glu2846Ter)
c.5908G>T (p.Glu1970Ter)
c.4957G>T (p.Glu1653Ter)
 gnomAD v4
15g.28141756C=CA2166480085HERC2c.11791G= (p.Glu3931=)
c.3502G= (p.Glu1168=)
n.306G=
c.11677G= (p.Glu3893=)
c.11776G= (p.Glu3926=)
c.11533G= (p.Glu3845=)
c.11308G= (p.Glu3770=)
c.9307G= (p.Glu3103=)
c.8536G= (p.Glu2846=)
c.5908G= (p.Glu1970=)
c.4957G= (p.Glu1653=)
15g.28141756C>GCA391381850HERC2c.11791G>C (p.Glu3931Gln)
c.3502G>C (p.Glu1168Gln)
n.306G>C
c.11677G>C (p.Glu3893Gln)
c.11776G>C (p.Glu3926Gln)
c.11533G>C (p.Glu3845Gln)
c.11308G>C (p.Glu3770Gln)
c.9307G>C (p.Glu3103Gln)
c.8536G>C (p.Glu2846Gln)
c.5908G>C (p.Glu1970Gln)
c.4957G>C (p.Glu1653Gln)
15g.28141756C>TCA391381851HERC2c.11791G>A (p.Glu3931Lys)
c.3502G>A (p.Glu1168Lys)
n.306G>A
c.11677G>A (p.Glu3893Lys)
c.11776G>A (p.Glu3926Lys)
c.11533G>A (p.Glu3845Lys)
c.11308G>A (p.Glu3770Lys)
c.9307G>A (p.Glu3103Lys)
c.8536G>A (p.Glu2846Lys)
c.5908G>A (p.Glu1970Lys)
c.4957G>A (p.Glu1653Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.28141757G>ACA7440468HERC2c.11790C>T (p.Asp3930=)
c.3501C>T (p.Asp1167=)
n.305C>T
c.11676C>T (p.Asp3892=)
c.11775C>T (p.Asp3925=)
c.11532C>T (p.Asp3844=)
c.11307C>T (p.Asp3769=)
c.9306C>T (p.Asp3102=)
c.8535C>T (p.Asp2845=)
c.5907C>T (p.Asp1969=)
c.4956C>T (p.Asp1652=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141757G>CCA391381852HERC2c.11790C>G (p.Asp3930Glu)
c.3501C>G (p.Asp1167Glu)
n.305C>G
c.11676C>G (p.Asp3892Glu)
c.11775C>G (p.Asp3925Glu)
c.11532C>G (p.Asp3844Glu)
c.11307C>G (p.Asp3769Glu)
c.9306C>G (p.Asp3102Glu)
c.8535C>G (p.Asp2845Glu)
c.5907C>G (p.Asp1969Glu)
c.4956C>G (p.Asp1652Glu)
15g.28141757G=CA2166480087HERC2c.11790C= (p.Asp3930=)
c.3501C= (p.Asp1167=)
n.305C=
c.11676C= (p.Asp3892=)
c.11775C= (p.Asp3925=)
c.11532C= (p.Asp3844=)
c.11307C= (p.Asp3769=)
c.9306C= (p.Asp3102=)
c.8535C= (p.Asp2845=)
c.5907C= (p.Asp1969=)
c.4956C= (p.Asp1652=)
15g.28141757G>TCA391381853HERC2c.11790C>A (p.Asp3930Glu)
c.3501C>A (p.Asp1167Glu)
n.305C>A
c.11676C>A (p.Asp3892Glu)
c.11775C>A (p.Asp3925Glu)
c.11532C>A (p.Asp3844Glu)
c.11307C>A (p.Asp3769Glu)
c.9306C>A (p.Asp3102Glu)
c.8535C>A (p.Asp2845Glu)
c.5907C>A (p.Asp1969Glu)
c.4956C>A (p.Asp1652Glu)
15g.28141758T>ACA391381856HERC2c.11789A>T (p.Asp3930Val)
c.3500A>T (p.Asp1167Val)
n.304A>T
c.11675A>T (p.Asp3892Val)
c.11774A>T (p.Asp3925Val)
c.11531A>T (p.Asp3844Val)
c.11306A>T (p.Asp3769Val)
c.9305A>T (p.Asp3102Val)
c.8534A>T (p.Asp2845Val)
c.5906A>T (p.Asp1969Val)
c.4955A>T (p.Asp1652Val)
15g.28141758T>CCA391381855HERC2c.11789A>G (p.Asp3930Gly)
c.3500A>G (p.Asp1167Gly)
n.304A>G
c.11675A>G (p.Asp3892Gly)
c.11774A>G (p.Asp3925Gly)
c.11531A>G (p.Asp3844Gly)
c.11306A>G (p.Asp3769Gly)
c.9305A>G (p.Asp3102Gly)
c.8534A>G (p.Asp2845Gly)
c.5906A>G (p.Asp1969Gly)
c.4955A>G (p.Asp1652Gly)
15g.28141758T>GCA391381854HERC2c.11789A>C (p.Asp3930Ala)
c.3500A>C (p.Asp1167Ala)
n.304A>C
c.11675A>C (p.Asp3892Ala)
c.11774A>C (p.Asp3925Ala)
c.11531A>C (p.Asp3844Ala)
c.11306A>C (p.Asp3769Ala)
c.9305A>C (p.Asp3102Ala)
c.8534A>C (p.Asp2845Ala)
c.5906A>C (p.Asp1969Ala)
c.4955A>C (p.Asp1652Ala)
15g.28141759C>ACA391381857HERC2c.11788G>T (p.Asp3930Tyr)
c.3499G>T (p.Asp1167Tyr)
n.303G>T
c.11674G>T (p.Asp3892Tyr)
c.11773G>T (p.Asp3925Tyr)
c.11530G>T (p.Asp3844Tyr)
c.11305G>T (p.Asp3769Tyr)
c.9304G>T (p.Asp3102Tyr)
c.8533G>T (p.Asp2845Tyr)
c.5905G>T (p.Asp1969Tyr)
c.4954G>T (p.Asp1652Tyr)
15g.28141759C>GCA391381859HERC2c.11788G>C (p.Asp3930His)
c.3499G>C (p.Asp1167His)
n.303G>C
c.11674G>C (p.Asp3892His)
c.11773G>C (p.Asp3925His)
c.11530G>C (p.Asp3844His)
c.11305G>C (p.Asp3769His)
c.9304G>C (p.Asp3102His)
c.8533G>C (p.Asp2845His)
c.5905G>C (p.Asp1969His)
c.4954G>C (p.Asp1652His)
15g.28141759C>TCA391381858HERC2c.11788G>A (p.Asp3930Asn)
c.3499G>A (p.Asp1167Asn)
n.303G>A
c.11674G>A (p.Asp3892Asn)
c.11773G>A (p.Asp3925Asn)
c.11530G>A (p.Asp3844Asn)
c.11305G>A (p.Asp3769Asn)
c.9304G>A (p.Asp3102Asn)
c.8533G>A (p.Asp2845Asn)
c.5905G>A (p.Asp1969Asn)
c.4954G>A (p.Asp1652Asn)
 gnomAD v4
15g.28141760T>ACA391381860HERC2c.11787A>T (p.Gln3929His)
c.3498A>T (p.Gln1166His)
n.302A>T
c.11673A>T (p.Gln3891His)
c.11772A>T (p.Gln3924His)
c.11529A>T (p.Gln3843His)
c.11304A>T (p.Gln3768His)
c.9303A>T (p.Gln3101His)
c.8532A>T (p.Gln2844His)
c.5904A>T (p.Gln1968His)
c.4953A>T (p.Gln1651His)
15g.28141760T>CCA489235022HERC2c.11787A>G (p.Gln3929=)
c.3498A>G (p.Gln1166=)
n.302A>G
c.11673A>G (p.Gln3891=)
c.11772A>G (p.Gln3924=)
c.11529A>G (p.Gln3843=)
c.11304A>G (p.Gln3768=)
c.9303A>G (p.Gln3101=)
c.8532A>G (p.Gln2844=)
c.5904A>G (p.Gln1968=)
c.4953A>G (p.Gln1651=)
15g.28141760T>GCA391381861HERC2c.11787A>C (p.Gln3929His)
c.3498A>C (p.Gln1166His)
n.302A>C
c.11673A>C (p.Gln3891His)
c.11772A>C (p.Gln3924His)
c.11529A>C (p.Gln3843His)
c.11304A>C (p.Gln3768His)
c.9303A>C (p.Gln3101His)
c.8532A>C (p.Gln2844His)
c.5904A>C (p.Gln1968His)
c.4953A>C (p.Gln1651His)
15g.28141761T>ACA391381862HERC2c.11786A>T (p.Gln3929Leu)
c.3497A>T (p.Gln1166Leu)
n.301A>T
c.11672A>T (p.Gln3891Leu)
c.11771A>T (p.Gln3924Leu)
c.11528A>T (p.Gln3843Leu)
c.11303A>T (p.Gln3768Leu)
c.9302A>T (p.Gln3101Leu)
c.8531A>T (p.Gln2844Leu)
c.5903A>T (p.Gln1968Leu)
c.4952A>T (p.Gln1651Leu)
15g.28141761T>CCA391381863HERC2c.11786A>G (p.Gln3929Arg)
c.3497A>G (p.Gln1166Arg)
n.301A>G
c.11672A>G (p.Gln3891Arg)
c.11771A>G (p.Gln3924Arg)
c.11528A>G (p.Gln3843Arg)
c.11303A>G (p.Gln3768Arg)
c.9302A>G (p.Gln3101Arg)
c.8531A>G (p.Gln2844Arg)
c.5903A>G (p.Gln1968Arg)
c.4952A>G (p.Gln1651Arg)
 gnomAD v4
15g.28141761T>GCA391381864HERC2c.11786A>C (p.Gln3929Pro)
c.3497A>C (p.Gln1166Pro)
n.301A>C
c.11672A>C (p.Gln3891Pro)
c.11771A>C (p.Gln3924Pro)
c.11528A>C (p.Gln3843Pro)
c.11303A>C (p.Gln3768Pro)
c.9302A>C (p.Gln3101Pro)
c.8531A>C (p.Gln2844Pro)
c.5903A>C (p.Gln1968Pro)
c.4952A>C (p.Gln1651Pro)
 gnomAD v4
15g.28141762G>ACA391381865HERC2c.11785C>T (p.Gln3929Ter)
c.3496C>T (p.Gln1166Ter)
n.300C>T
c.11671C>T (p.Gln3891Ter)
c.11770C>T (p.Gln3924Ter)
c.11527C>T (p.Gln3843Ter)
c.11302C>T (p.Gln3768Ter)
c.9301C>T (p.Gln3101Ter)
c.8530C>T (p.Gln2844Ter)
c.5902C>T (p.Gln1968Ter)
c.4951C>T (p.Gln1651Ter)
15g.28141762G>CCA391381866HERC2c.11785C>G (p.Gln3929Glu)
c.3496C>G (p.Gln1166Glu)
n.300C>G
c.11671C>G (p.Gln3891Glu)
c.11770C>G (p.Gln3924Glu)
c.11527C>G (p.Gln3843Glu)
c.11302C>G (p.Gln3768Glu)
c.9301C>G (p.Gln3101Glu)
c.8530C>G (p.Gln2844Glu)
c.5902C>G (p.Gln1968Glu)
c.4951C>G (p.Gln1651Glu)
 gnomAD v4
15g.28141762G=CA2166480088HERC2c.11785C= (p.Gln3929=)
c.3496C= (p.Gln1166=)
n.300C=
c.11671C= (p.Gln3891=)
c.11770C= (p.Gln3924=)
c.11527C= (p.Gln3843=)
c.11302C= (p.Gln3768=)
c.9301C= (p.Gln3101=)
c.8530C= (p.Gln2844=)
c.5902C= (p.Gln1968=)
c.4951C= (p.Gln1651=)
15g.28141762G>TCA391381867HERC2c.11785C>A (p.Gln3929Lys)
c.3496C>A (p.Gln1166Lys)
n.300C>A
c.11671C>A (p.Gln3891Lys)
c.11770C>A (p.Gln3924Lys)
c.11527C>A (p.Gln3843Lys)
c.11302C>A (p.Gln3768Lys)
c.9301C>A (p.Gln3101Lys)
c.8530C>A (p.Gln2844Lys)
c.5902C>A (p.Gln1968Lys)
c.4951C>A (p.Gln1651Lys)
 dbSNP gnomAD v4
15g.28141763C>ACA391381868HERC2c.11784G>T (p.Glu3928Asp)
c.3495G>T (p.Glu1165Asp)
n.299G>T
c.11670G>T (p.Glu3890Asp)
c.11769G>T (p.Glu3923Asp)
c.11526G>T (p.Glu3842Asp)
c.11301G>T (p.Glu3767Asp)
c.9300G>T (p.Glu3100Asp)
c.8529G>T (p.Glu2843Asp)
c.5901G>T (p.Glu1967Asp)
c.4950G>T (p.Glu1650Asp)
15g.28141763C>GCA391381869HERC2c.11784G>C (p.Glu3928Asp)
c.3495G>C (p.Glu1165Asp)
n.299G>C
c.11670G>C (p.Glu3890Asp)
c.11769G>C (p.Glu3923Asp)
c.11526G>C (p.Glu3842Asp)
c.11301G>C (p.Glu3767Asp)
c.9300G>C (p.Glu3100Asp)
c.8529G>C (p.Glu2843Asp)
c.5901G>C (p.Glu1967Asp)
c.4950G>C (p.Glu1650Asp)
15g.28141763C>TCA489235023HERC2c.11784G>A (p.Glu3928=)
c.3495G>A (p.Glu1165=)
n.299G>A
c.11670G>A (p.Glu3890=)
c.11769G>A (p.Glu3923=)
c.11526G>A (p.Glu3842=)
c.11301G>A (p.Glu3767=)
c.9300G>A (p.Glu3100=)
c.8529G>A (p.Glu2843=)
c.5901G>A (p.Glu1967=)
c.4950G>A (p.Glu1650=)
 gnomAD v4
15g.28141764T>ACA391381870HERC2c.11783A>T (p.Glu3928Val)
c.3494A>T (p.Glu1165Val)
n.298A>T
c.11669A>T (p.Glu3890Val)
c.11768A>T (p.Glu3923Val)
c.11525A>T (p.Glu3842Val)
c.11300A>T (p.Glu3767Val)
c.9299A>T (p.Glu3100Val)
c.8528A>T (p.Glu2843Val)
c.5900A>T (p.Glu1967Val)
c.4949A>T (p.Glu1650Val)
15g.28141764T>CCA391381871HERC2c.11783A>G (p.Glu3928Gly)
c.3494A>G (p.Glu1165Gly)
n.298A>G
c.11669A>G (p.Glu3890Gly)
c.11768A>G (p.Glu3923Gly)
c.11525A>G (p.Glu3842Gly)
c.11300A>G (p.Glu3767Gly)
c.9299A>G (p.Glu3100Gly)
c.8528A>G (p.Glu2843Gly)
c.5900A>G (p.Glu1967Gly)
c.4949A>G (p.Glu1650Gly)
 gnomAD v4
15g.28141764T>GCA391381872HERC2c.11783A>C (p.Glu3928Ala)
c.3494A>C (p.Glu1165Ala)
n.298A>C
c.11669A>C (p.Glu3890Ala)
c.11768A>C (p.Glu3923Ala)
c.11525A>C (p.Glu3842Ala)
c.11300A>C (p.Glu3767Ala)
c.9299A>C (p.Glu3100Ala)
c.8528A>C (p.Glu2843Ala)
c.5900A>C (p.Glu1967Ala)
c.4949A>C (p.Glu1650Ala)
15g.28141765C>ACA391381873HERC2c.11782G>T (p.Glu3928Ter)
c.3493G>T (p.Glu1165Ter)
n.297G>T
c.11668G>T (p.Glu3890Ter)
c.11767G>T (p.Glu3923Ter)
c.11524G>T (p.Glu3842Ter)
c.11299G>T (p.Glu3767Ter)
c.9298G>T (p.Glu3100Ter)
c.8527G>T (p.Glu2843Ter)
c.5899G>T (p.Glu1967Ter)
c.4948G>T (p.Glu1650Ter)
15g.28141765C=CA2166480089HERC2c.11782G= (p.Glu3928=)
c.3493G= (p.Glu1165=)
n.297G=
c.11668G= (p.Glu3890=)
c.11767G= (p.Glu3923=)
c.11524G= (p.Glu3842=)
c.11299G= (p.Glu3767=)
c.9298G= (p.Glu3100=)
c.8527G= (p.Glu2843=)
c.5899G= (p.Glu1967=)
c.4948G= (p.Glu1650=)
15g.28141765C>GCA7440469HERC2c.11782G>C (p.Glu3928Gln)
c.3493G>C (p.Glu1165Gln)
n.297G>C
c.11668G>C (p.Glu3890Gln)
c.11767G>C (p.Glu3923Gln)
c.11524G>C (p.Glu3842Gln)
c.11299G>C (p.Glu3767Gln)
c.9298G>C (p.Glu3100Gln)
c.8527G>C (p.Glu2843Gln)
c.5899G>C (p.Glu1967Gln)
c.4948G>C (p.Glu1650Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141765C>TCA391381874HERC2c.11782G>A (p.Glu3928Lys)
c.3493G>A (p.Glu1165Lys)
n.297G>A
c.11668G>A (p.Glu3890Lys)
c.11767G>A (p.Glu3923Lys)
c.11524G>A (p.Glu3842Lys)
c.11299G>A (p.Glu3767Lys)
c.9298G>A (p.Glu3100Lys)
c.8527G>A (p.Glu2843Lys)
c.5899G>A (p.Glu1967Lys)
c.4948G>A (p.Glu1650Lys)
15g.28141766T>ACA391381875HERC2c.11781A>T (p.Arg3927Ser)
c.3492A>T (p.Arg1164Ser)
n.296A>T
c.11667A>T (p.Arg3889Ser)
c.11766A>T (p.Arg3922Ser)
c.11523A>T (p.Arg3841Ser)
c.11298A>T (p.Arg3766Ser)
c.9297A>T (p.Arg3099Ser)
c.8526A>T (p.Arg2842Ser)
c.5898A>T (p.Arg1966Ser)
c.4947A>T (p.Arg1649Ser)
15g.28141766T>CCA489235025HERC2c.11781A>G (p.Arg3927=)
c.3492A>G (p.Arg1164=)
n.296A>G
c.11667A>G (p.Arg3889=)
c.11766A>G (p.Arg3922=)
c.11523A>G (p.Arg3841=)
c.11298A>G (p.Arg3766=)
c.9297A>G (p.Arg3099=)
c.8526A>G (p.Arg2842=)
c.5898A>G (p.Arg1966=)
c.4947A>G (p.Arg1649=)
15g.28141766T>GCA391381876HERC2c.11781A>C (p.Arg3927Ser)
c.3492A>C (p.Arg1164Ser)
n.296A>C
c.11667A>C (p.Arg3889Ser)
c.11766A>C (p.Arg3922Ser)
c.11523A>C (p.Arg3841Ser)
c.11298A>C (p.Arg3766Ser)
c.9297A>C (p.Arg3099Ser)
c.8526A>C (p.Arg2842Ser)
c.5898A>C (p.Arg1966Ser)
c.4947A>C (p.Arg1649Ser)
15g.28141767C>ACA391381877HERC2c.11780G>T (p.Arg3927Ile)
c.3491G>T (p.Arg1164Ile)
n.295G>T
c.11666G>T (p.Arg3889Ile)
c.11765G>T (p.Arg3922Ile)
c.11522G>T (p.Arg3841Ile)
c.11297G>T (p.Arg3766Ile)
c.9296G>T (p.Arg3099Ile)
c.8525G>T (p.Arg2842Ile)
c.5897G>T (p.Arg1966Ile)
c.4946G>T (p.Arg1649Ile)
15g.28141767C>GCA391381878HERC2c.11780G>C (p.Arg3927Thr)
c.3491G>C (p.Arg1164Thr)
n.295G>C
c.11666G>C (p.Arg3889Thr)
c.11765G>C (p.Arg3922Thr)
c.11522G>C (p.Arg3841Thr)
c.11297G>C (p.Arg3766Thr)
c.9296G>C (p.Arg3099Thr)
c.8525G>C (p.Arg2842Thr)
c.5897G>C (p.Arg1966Thr)
c.4946G>C (p.Arg1649Thr)
15g.28141767C>TCA391381879HERC2c.11780G>A (p.Arg3927Lys)
c.3491G>A (p.Arg1164Lys)
n.295G>A
c.11666G>A (p.Arg3889Lys)
c.11765G>A (p.Arg3922Lys)
c.11522G>A (p.Arg3841Lys)
c.11297G>A (p.Arg3766Lys)
c.9296G>A (p.Arg3099Lys)
c.8525G>A (p.Arg2842Lys)
c.5897G>A (p.Arg1966Lys)
c.4946G>A (p.Arg1649Lys)
15g.28141768T>ACA391381880HERC2c.11779A>T (p.Arg3927Ter)
c.3490A>T (p.Arg1164Ter)
n.294A>T
c.11665A>T (p.Arg3889Ter)
c.11764A>T (p.Arg3922Ter)
c.11521A>T (p.Arg3841Ter)
c.11296A>T (p.Arg3766Ter)
c.9295A>T (p.Arg3099Ter)
c.8524A>T (p.Arg2842Ter)
c.5896A>T (p.Arg1966Ter)
c.4945A>T (p.Arg1649Ter)
15g.28141768T>CCA391381881HERC2c.11779A>G (p.Arg3927Gly)
c.3490A>G (p.Arg1164Gly)
n.294A>G
c.11665A>G (p.Arg3889Gly)
c.11764A>G (p.Arg3922Gly)
c.11521A>G (p.Arg3841Gly)
c.11296A>G (p.Arg3766Gly)
c.9295A>G (p.Arg3099Gly)
c.8524A>G (p.Arg2842Gly)
c.5896A>G (p.Arg1966Gly)
c.4945A>G (p.Arg1649Gly)
15g.28141768T>GCA489235027HERC2c.11779A>C (p.Arg3927=)
c.3490A>C (p.Arg1164=)
n.294A>C
c.11665A>C (p.Arg3889=)
c.11764A>C (p.Arg3922=)
c.11521A>C (p.Arg3841=)
c.11296A>C (p.Arg3766=)
c.9295A>C (p.Arg3099=)
c.8524A>C (p.Arg2842=)
c.5896A>C (p.Arg1966=)
c.4945A>C (p.Arg1649=)
15g.28141769T>ACA391381882HERC2c.11778A>T (p.Lys3926Asn)
c.3489A>T (p.Lys1163Asn)
n.293A>T
c.11664A>T (p.Lys3888Asn)
c.11763A>T (p.Lys3921Asn)
c.11520A>T (p.Lys3840Asn)
c.11295A>T (p.Lys3765Asn)
c.9294A>T (p.Lys3098Asn)
c.8523A>T (p.Lys2841Asn)
c.5895A>T (p.Lys1965Asn)
c.4944A>T (p.Lys1648Asn)
15g.28141769T>CCA489235028HERC2c.11778A>G (p.Lys3926=)
c.3489A>G (p.Lys1163=)
n.293A>G
c.11664A>G (p.Lys3888=)
c.11763A>G (p.Lys3921=)
c.11520A>G (p.Lys3840=)
c.11295A>G (p.Lys3765=)
c.9294A>G (p.Lys3098=)
c.8523A>G (p.Lys2841=)
c.5895A>G (p.Lys1965=)
c.4944A>G (p.Lys1648=)
 dbSNP gnomAD v2 gnomAD v4
15g.28141769T>GCA391381883HERC2c.11778A>C (p.Lys3926Asn)
c.3489A>C (p.Lys1163Asn)
n.293A>C
c.11664A>C (p.Lys3888Asn)
c.11763A>C (p.Lys3921Asn)
c.11520A>C (p.Lys3840Asn)
c.11295A>C (p.Lys3765Asn)
c.9294A>C (p.Lys3098Asn)
c.8523A>C (p.Lys2841Asn)
c.5895A>C (p.Lys1965Asn)
c.4944A>C (p.Lys1648Asn)
15g.28141769T=CA2166480090HERC2c.11778A= (p.Lys3926=)
c.3489A= (p.Lys1163=)
n.293A=
c.11664A= (p.Lys3888=)
c.11763A= (p.Lys3921=)
c.11520A= (p.Lys3840=)
c.11295A= (p.Lys3765=)
c.9294A= (p.Lys3098=)
c.8523A= (p.Lys2841=)
c.5895A= (p.Lys1965=)
c.4944A= (p.Lys1648=)
15g.28141770T>ACA391381884HERC2c.11777A>T (p.Lys3926Ile)
c.3488A>T (p.Lys1163Ile)
n.292A>T
c.11663A>T (p.Lys3888Ile)
c.11762A>T (p.Lys3921Ile)
c.11519A>T (p.Lys3840Ile)
c.11294A>T (p.Lys3765Ile)
c.9293A>T (p.Lys3098Ile)
c.8522A>T (p.Lys2841Ile)
c.5894A>T (p.Lys1965Ile)
c.4943A>T (p.Lys1648Ile)
15g.28141770T>CCA391381885HERC2c.11777A>G (p.Lys3926Arg)
c.3488A>G (p.Lys1163Arg)
n.292A>G
c.11663A>G (p.Lys3888Arg)
c.11762A>G (p.Lys3921Arg)
c.11519A>G (p.Lys3840Arg)
c.11294A>G (p.Lys3765Arg)
c.9293A>G (p.Lys3098Arg)
c.8522A>G (p.Lys2841Arg)
c.5894A>G (p.Lys1965Arg)
c.4943A>G (p.Lys1648Arg)
15g.28141770T>GCA391381886HERC2c.11777A>C (p.Lys3926Thr)
c.3488A>C (p.Lys1163Thr)
n.292A>C
c.11663A>C (p.Lys3888Thr)
c.11762A>C (p.Lys3921Thr)
c.11519A>C (p.Lys3840Thr)
c.11294A>C (p.Lys3765Thr)
c.9293A>C (p.Lys3098Thr)
c.8522A>C (p.Lys2841Thr)
c.5894A>C (p.Lys1965Thr)
c.4943A>C (p.Lys1648Thr)
15g.28141771T>ACA391381887HERC2c.11776A>T (p.Lys3926Ter)
c.3487A>T (p.Lys1163Ter)
n.291A>T
c.11662A>T (p.Lys3888Ter)
c.11761A>T (p.Lys3921Ter)
c.11518A>T (p.Lys3840Ter)
c.11293A>T (p.Lys3765Ter)
c.9292A>T (p.Lys3098Ter)
c.8521A>T (p.Lys2841Ter)
c.5893A>T (p.Lys1965Ter)
c.4942A>T (p.Lys1648Ter)
15g.28141771T>CCA391381888HERC2c.11776A>G (p.Lys3926Glu)
c.3487A>G (p.Lys1163Glu)
n.291A>G
c.11662A>G (p.Lys3888Glu)
c.11761A>G (p.Lys3921Glu)
c.11518A>G (p.Lys3840Glu)
c.11293A>G (p.Lys3765Glu)
c.9292A>G (p.Lys3098Glu)
c.8521A>G (p.Lys2841Glu)
c.5893A>G (p.Lys1965Glu)
c.4942A>G (p.Lys1648Glu)
15g.28141771T>GCA391381889HERC2c.11776A>C (p.Lys3926Gln)
c.3487A>C (p.Lys1163Gln)
n.291A>C
c.11662A>C (p.Lys3888Gln)
c.11761A>C (p.Lys3921Gln)
c.11518A>C (p.Lys3840Gln)
c.11293A>C (p.Lys3765Gln)
c.9292A>C (p.Lys3098Gln)
c.8521A>C (p.Lys2841Gln)
c.5893A>C (p.Lys1965Gln)
c.4942A>C (p.Lys1648Gln)
15g.28141772A=CA2166480091HERC2c.11775T= (p.Phe3925=)
c.3486T= (p.Phe1162=)
n.290T=
c.11661T= (p.Phe3887=)
c.11760T= (p.Phe3920=)
c.11517T= (p.Phe3839=)
c.11292T= (p.Phe3764=)
c.9291T= (p.Phe3097=)
c.8520T= (p.Phe2840=)
c.5892T= (p.Phe1964=)
c.4941T= (p.Phe1647=)
15g.28141772A>CCA391381890HERC2c.11775T>G (p.Phe3925Leu)
c.3486T>G (p.Phe1162Leu)
n.290T>G
c.11661T>G (p.Phe3887Leu)
c.11760T>G (p.Phe3920Leu)
c.11517T>G (p.Phe3839Leu)
c.11292T>G (p.Phe3764Leu)
c.9291T>G (p.Phe3097Leu)
c.8520T>G (p.Phe2840Leu)
c.5892T>G (p.Phe1964Leu)
c.4941T>G (p.Phe1647Leu)
15g.28141772A>GCA7440470HERC2c.11775T>C (p.Phe3925=)
c.3486T>C (p.Phe1162=)
n.290T>C
c.11661T>C (p.Phe3887=)
c.11760T>C (p.Phe3920=)
c.11517T>C (p.Phe3839=)
c.11292T>C (p.Phe3764=)
c.9291T>C (p.Phe3097=)
c.8520T>C (p.Phe2840=)
c.5892T>C (p.Phe1964=)
c.4941T>C (p.Phe1647=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141772A>TCA391381891HERC2c.11775T>A (p.Phe3925Leu)
c.3486T>A (p.Phe1162Leu)
n.290T>A
c.11661T>A (p.Phe3887Leu)
c.11760T>A (p.Phe3920Leu)
c.11517T>A (p.Phe3839Leu)
c.11292T>A (p.Phe3764Leu)
c.9291T>A (p.Phe3097Leu)
c.8520T>A (p.Phe2840Leu)
c.5892T>A (p.Phe1964Leu)
c.4941T>A (p.Phe1647Leu)
15g.28141773A>CCA391381892HERC2c.11774T>G (p.Phe3925Cys)
c.3485T>G (p.Phe1162Cys)
n.289T>G
c.11660T>G (p.Phe3887Cys)
c.11759T>G (p.Phe3920Cys)
c.11516T>G (p.Phe3839Cys)
c.11291T>G (p.Phe3764Cys)
c.9290T>G (p.Phe3097Cys)
c.8519T>G (p.Phe2840Cys)
c.5891T>G (p.Phe1964Cys)
c.4940T>G (p.Phe1647Cys)
15g.28141773A>GCA391381893HERC2c.11774T>C (p.Phe3925Ser)
c.3485T>C (p.Phe1162Ser)
n.289T>C
c.11660T>C (p.Phe3887Ser)
c.11759T>C (p.Phe3920Ser)
c.11516T>C (p.Phe3839Ser)
c.11291T>C (p.Phe3764Ser)
c.9290T>C (p.Phe3097Ser)
c.8519T>C (p.Phe2840Ser)
c.5891T>C (p.Phe1964Ser)
c.4940T>C (p.Phe1647Ser)
 COSMIC COSMIC
15g.28141773A>TCA391381894HERC2c.11774T>A (p.Phe3925Tyr)
c.3485T>A (p.Phe1162Tyr)
n.289T>A
c.11660T>A (p.Phe3887Tyr)
c.11759T>A (p.Phe3920Tyr)
c.11516T>A (p.Phe3839Tyr)
c.11291T>A (p.Phe3764Tyr)
c.9290T>A (p.Phe3097Tyr)
c.8519T>A (p.Phe2840Tyr)
c.5891T>A (p.Phe1964Tyr)
c.4940T>A (p.Phe1647Tyr)
15g.28141774A>CCA391381895HERC2c.11773T>G (p.Phe3925Val)
c.3484T>G (p.Phe1162Val)
n.288T>G
c.11659T>G (p.Phe3887Val)
c.11758T>G (p.Phe3920Val)
c.11515T>G (p.Phe3839Val)
c.11290T>G (p.Phe3764Val)
c.9289T>G (p.Phe3097Val)
c.8518T>G (p.Phe2840Val)
c.5890T>G (p.Phe1964Val)
c.4939T>G (p.Phe1647Val)
15g.28141774A>GCA391381896HERC2c.11773T>C (p.Phe3925Leu)
c.3484T>C (p.Phe1162Leu)
n.288T>C
c.11659T>C (p.Phe3887Leu)
c.11758T>C (p.Phe3920Leu)
c.11515T>C (p.Phe3839Leu)
c.11290T>C (p.Phe3764Leu)
c.9289T>C (p.Phe3097Leu)
c.8518T>C (p.Phe2840Leu)
c.5890T>C (p.Phe1964Leu)
c.4939T>C (p.Phe1647Leu)
15g.28141774A>TCA391381897HERC2c.11773T>A (p.Phe3925Ile)
c.3484T>A (p.Phe1162Ile)
n.288T>A
c.11659T>A (p.Phe3887Ile)
c.11758T>A (p.Phe3920Ile)
c.11515T>A (p.Phe3839Ile)
c.11290T>A (p.Phe3764Ile)
c.9289T>A (p.Phe3097Ile)
c.8518T>A (p.Phe2840Ile)
c.5890T>A (p.Phe1964Ile)
c.4939T>A (p.Phe1647Ile)
15g.28141775A=CA2166480092HERC2c.11772T= (p.Ile3924=)
c.3483T= (p.Ile1161=)
n.287T=
c.11658T= (p.Ile3886=)
c.11757T= (p.Ile3919=)
c.11514T= (p.Ile3838=)
c.11289T= (p.Ile3763=)
c.9288T= (p.Ile3096=)
c.8517T= (p.Ile2839=)
c.5889T= (p.Ile1963=)
c.4938T= (p.Ile1646=)
15g.28141775A>CCA391381898HERC2c.11772T>G (p.Ile3924Met)
c.3483T>G (p.Ile1161Met)
n.287T>G
c.11658T>G (p.Ile3886Met)
c.11757T>G (p.Ile3919Met)
c.11514T>G (p.Ile3838Met)
c.11289T>G (p.Ile3763Met)
c.9288T>G (p.Ile3096Met)
c.8517T>G (p.Ile2839Met)
c.5889T>G (p.Ile1963Met)
c.4938T>G (p.Ile1646Met)
15g.28141775A>GCA7440471HERC2c.11772T>C (p.Ile3924=)
c.3483T>C (p.Ile1161=)
n.287T>C
c.11658T>C (p.Ile3886=)
c.11757T>C (p.Ile3919=)
c.11514T>C (p.Ile3838=)
c.11289T>C (p.Ile3763=)
c.9288T>C (p.Ile3096=)
c.8517T>C (p.Ile2839=)
c.5889T>C (p.Ile1963=)
c.4938T>C (p.Ile1646=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141775A>TCA489235033HERC2c.11772T>A (p.Ile3924=)
c.3483T>A (p.Ile1161=)
n.287T>A
c.11658T>A (p.Ile3886=)
c.11757T>A (p.Ile3919=)
c.11514T>A (p.Ile3838=)
c.11289T>A (p.Ile3763=)
c.9288T>A (p.Ile3096=)
c.8517T>A (p.Ile2839=)
c.5889T>A (p.Ile1963=)
c.4938T>A (p.Ile1646=)
15g.28141776A=CA2166480093HERC2c.11771T= (p.Ile3924=)
c.3482T= (p.Ile1161=)
n.286T=
c.11657T= (p.Ile3886=)
c.11756T= (p.Ile3919=)
c.11513T= (p.Ile3838=)
c.11288T= (p.Ile3763=)
c.9287T= (p.Ile3096=)
c.8516T= (p.Ile2839=)
c.5888T= (p.Ile1963=)
c.4937T= (p.Ile1646=)
15g.28141776A>CCA391381899HERC2c.11771T>G (p.Ile3924Ser)
c.3482T>G (p.Ile1161Ser)
n.286T>G
c.11657T>G (p.Ile3886Ser)
c.11756T>G (p.Ile3919Ser)
c.11513T>G (p.Ile3838Ser)
c.11288T>G (p.Ile3763Ser)
c.9287T>G (p.Ile3096Ser)
c.8516T>G (p.Ile2839Ser)
c.5888T>G (p.Ile1963Ser)
c.4937T>G (p.Ile1646Ser)
 dbSNP gnomAD v4
15g.28141776A>GCA7440472HERC2c.11771T>C (p.Ile3924Thr)
c.3482T>C (p.Ile1161Thr)
n.286T>C
c.11657T>C (p.Ile3886Thr)
c.11756T>C (p.Ile3919Thr)
c.11513T>C (p.Ile3838Thr)
c.11288T>C (p.Ile3763Thr)
c.9287T>C (p.Ile3096Thr)
c.8516T>C (p.Ile2839Thr)
c.5888T>C (p.Ile1963Thr)
c.4937T>C (p.Ile1646Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141776A>TCA391381900HERC2c.11771T>A (p.Ile3924Asn)
c.3482T>A (p.Ile1161Asn)
n.286T>A
c.11657T>A (p.Ile3886Asn)
c.11756T>A (p.Ile3919Asn)
c.11513T>A (p.Ile3838Asn)
c.11288T>A (p.Ile3763Asn)
c.9287T>A (p.Ile3096Asn)
c.8516T>A (p.Ile2839Asn)
c.5888T>A (p.Ile1963Asn)
c.4937T>A (p.Ile1646Asn)
15g.28141777T>ACA391381901HERC2c.11770A>T (p.Ile3924Phe)
c.3481A>T (p.Ile1161Phe)
n.285A>T
c.11656A>T (p.Ile3886Phe)
c.11755A>T (p.Ile3919Phe)
c.11512A>T (p.Ile3838Phe)
c.11287A>T (p.Ile3763Phe)
c.9286A>T (p.Ile3096Phe)
c.8515A>T (p.Ile2839Phe)
c.5887A>T (p.Ile1963Phe)
c.4936A>T (p.Ile1646Phe)
15g.28141777T>CCA391381902HERC2c.11770A>G (p.Ile3924Val)
c.3481A>G (p.Ile1161Val)
n.285A>G
c.11656A>G (p.Ile3886Val)
c.11755A>G (p.Ile3919Val)
c.11512A>G (p.Ile3838Val)
c.11287A>G (p.Ile3763Val)
c.9286A>G (p.Ile3096Val)
c.8515A>G (p.Ile2839Val)
c.5887A>G (p.Ile1963Val)
c.4936A>G (p.Ile1646Val)
 dbSNP gnomAD v4
15g.28141777T>GCA391381903HERC2c.11770A>C (p.Ile3924Leu)
c.3481A>C (p.Ile1161Leu)
n.285A>C
c.11656A>C (p.Ile3886Leu)
c.11755A>C (p.Ile3919Leu)
c.11512A>C (p.Ile3838Leu)
c.11287A>C (p.Ile3763Leu)
c.9286A>C (p.Ile3096Leu)
c.8515A>C (p.Ile2839Leu)
c.5887A>C (p.Ile1963Leu)
c.4936A>C (p.Ile1646Leu)
15g.28141777T=CA2166480094HERC2c.11770A= (p.Ile3924=)
c.3481A= (p.Ile1161=)
n.285A=
c.11656A= (p.Ile3886=)
c.11755A= (p.Ile3919=)
c.11512A= (p.Ile3838=)
c.11287A= (p.Ile3763=)
c.9286A= (p.Ile3096=)
c.8515A= (p.Ile2839=)
c.5887A= (p.Ile1963=)
c.4936A= (p.Ile1646=)
15g.28141778G>ACA489235037HERC2c.11769C>T (p.Asp3923=)
c.3480C>T (p.Asp1160=)
n.284C>T
c.11655C>T (p.Asp3885=)
c.11754C>T (p.Asp3918=)
c.11511C>T (p.Asp3837=)
c.11286C>T (p.Asp3762=)
c.9285C>T (p.Asp3095=)
c.8514C>T (p.Asp2838=)
c.5886C>T (p.Asp1962=)
c.4935C>T (p.Asp1645=)
 dbSNP gnomAD v4
15g.28141778G>CCA391381904HERC2c.11769C>G (p.Asp3923Glu)
c.3480C>G (p.Asp1160Glu)
n.284C>G
c.11655C>G (p.Asp3885Glu)
c.11754C>G (p.Asp3918Glu)
c.11511C>G (p.Asp3837Glu)
c.11286C>G (p.Asp3762Glu)
c.9285C>G (p.Asp3095Glu)
c.8514C>G (p.Asp2838Glu)
c.5886C>G (p.Asp1962Glu)
c.4935C>G (p.Asp1645Glu)
15g.28141778G=CA2166480095HERC2c.11769C= (p.Asp3923=)
c.3480C= (p.Asp1160=)
n.284C=
c.11655C= (p.Asp3885=)
c.11754C= (p.Asp3918=)
c.11511C= (p.Asp3837=)
c.11286C= (p.Asp3762=)
c.9285C= (p.Asp3095=)
c.8514C= (p.Asp2838=)
c.5886C= (p.Asp1962=)
c.4935C= (p.Asp1645=)
15g.28141778G>TCA391381905HERC2c.11769C>A (p.Asp3923Glu)
c.3480C>A (p.Asp1160Glu)
n.284C>A
c.11655C>A (p.Asp3885Glu)
c.11754C>A (p.Asp3918Glu)
c.11511C>A (p.Asp3837Glu)
c.11286C>A (p.Asp3762Glu)
c.9285C>A (p.Asp3095Glu)
c.8514C>A (p.Asp2838Glu)
c.5886C>A (p.Asp1962Glu)
c.4935C>A (p.Asp1645Glu)
15g.28141779T>ACA391381906HERC2c.11768A>T (p.Asp3923Val)
c.3479A>T (p.Asp1160Val)
n.283A>T
c.11654A>T (p.Asp3885Val)
c.11753A>T (p.Asp3918Val)
c.11510A>T (p.Asp3837Val)
c.11285A>T (p.Asp3762Val)
c.9284A>T (p.Asp3095Val)
c.8513A>T (p.Asp2838Val)
c.5885A>T (p.Asp1962Val)
c.4934A>T (p.Asp1645Val)
15g.28141779T>CCA391381907HERC2c.11768A>G (p.Asp3923Gly)
c.3479A>G (p.Asp1160Gly)
n.283A>G
c.11654A>G (p.Asp3885Gly)
c.11753A>G (p.Asp3918Gly)
c.11510A>G (p.Asp3837Gly)
c.11285A>G (p.Asp3762Gly)
c.9284A>G (p.Asp3095Gly)
c.8513A>G (p.Asp2838Gly)
c.5885A>G (p.Asp1962Gly)
c.4934A>G (p.Asp1645Gly)
15g.28141779T>GCA391381908HERC2c.11768A>C (p.Asp3923Ala)
c.3479A>C (p.Asp1160Ala)
n.283A>C
c.11654A>C (p.Asp3885Ala)
c.11753A>C (p.Asp3918Ala)
c.11510A>C (p.Asp3837Ala)
c.11285A>C (p.Asp3762Ala)
c.9284A>C (p.Asp3095Ala)
c.8513A>C (p.Asp2838Ala)
c.5885A>C (p.Asp1962Ala)
c.4934A>C (p.Asp1645Ala)
15g.28141780C>ACA391381909HERC2c.11767G>T (p.Asp3923Tyr)
c.3478G>T (p.Asp1160Tyr)
n.282G>T
c.11653G>T (p.Asp3885Tyr)
c.11752G>T (p.Asp3918Tyr)
c.11509G>T (p.Asp3837Tyr)
c.11284G>T (p.Asp3762Tyr)
c.9283G>T (p.Asp3095Tyr)
c.8512G>T (p.Asp2838Tyr)
c.5884G>T (p.Asp1962Tyr)
c.4933G>T (p.Asp1645Tyr)
 gnomAD v4
15g.28141780C>GCA391381910HERC2c.11767G>C (p.Asp3923His)
c.3478G>C (p.Asp1160His)
n.282G>C
c.11653G>C (p.Asp3885His)
c.11752G>C (p.Asp3918His)
c.11509G>C (p.Asp3837His)
c.11284G>C (p.Asp3762His)
c.9283G>C (p.Asp3095His)
c.8512G>C (p.Asp2838His)
c.5884G>C (p.Asp1962His)
c.4933G>C (p.Asp1645His)
15g.28141780C>TCA391381911HERC2c.11767G>A (p.Asp3923Asn)
c.3478G>A (p.Asp1160Asn)
n.282G>A
c.11653G>A (p.Asp3885Asn)
c.11752G>A (p.Asp3918Asn)
c.11509G>A (p.Asp3837Asn)
c.11284G>A (p.Asp3762Asn)
c.9283G>A (p.Asp3095Asn)
c.8512G>A (p.Asp2838Asn)
c.5884G>A (p.Asp1962Asn)
c.4933G>A (p.Asp1645Asn)
 gnomAD v4
15g.28141781A>CCA391381912HERC2c.11766T>G (p.His3922Gln)
c.3477T>G (p.His1159Gln)
n.281T>G
c.11652T>G (p.His3884Gln)
c.11751T>G (p.His3917Gln)
c.11508T>G (p.His3836Gln)
c.11283T>G (p.His3761Gln)
c.9282T>G (p.His3094Gln)
c.8511T>G (p.His2837Gln)
c.5883T>G (p.His1961Gln)
c.4932T>G (p.His1644Gln)
15g.28141781A>GCA489235038HERC2c.11766T>C (p.His3922=)
c.3477T>C (p.His1159=)
n.281T>C
c.11652T>C (p.His3884=)
c.11751T>C (p.His3917=)
c.11508T>C (p.His3836=)
c.11283T>C (p.His3761=)
c.9282T>C (p.His3094=)
c.8511T>C (p.His2837=)
c.5883T>C (p.His1961=)
c.4932T>C (p.His1644=)
 gnomAD v4
15g.28141781A>TCA391381913HERC2c.11766T>A (p.His3922Gln)
c.3477T>A (p.His1159Gln)
n.281T>A
c.11652T>A (p.His3884Gln)
c.11751T>A (p.His3917Gln)
c.11508T>A (p.His3836Gln)
c.11283T>A (p.His3761Gln)
c.9282T>A (p.His3094Gln)
c.8511T>A (p.His2837Gln)
c.5883T>A (p.His1961Gln)
c.4932T>A (p.His1644Gln)
15g.28141782T>ACA391381914HERC2c.11765A>T (p.His3922Leu)
c.3476A>T (p.His1159Leu)
n.280A>T
c.11651A>T (p.His3884Leu)
c.11750A>T (p.His3917Leu)
c.11507A>T (p.His3836Leu)
c.11282A>T (p.His3761Leu)
c.9281A>T (p.His3094Leu)
c.8510A>T (p.His2837Leu)
c.5882A>T (p.His1961Leu)
c.4931A>T (p.His1644Leu)
15g.28141782T>CCA391381915HERC2c.11765A>G (p.His3922Arg)
c.3476A>G (p.His1159Arg)
n.280A>G
c.11651A>G (p.His3884Arg)
c.11750A>G (p.His3917Arg)
c.11507A>G (p.His3836Arg)
c.11282A>G (p.His3761Arg)
c.9281A>G (p.His3094Arg)
c.8510A>G (p.His2837Arg)
c.5882A>G (p.His1961Arg)
c.4931A>G (p.His1644Arg)
 gnomAD v4 COSMIC COSMIC
15g.28141782T>GCA391381916HERC2c.11765A>C (p.His3922Pro)
c.3476A>C (p.His1159Pro)
n.280A>C
c.11651A>C (p.His3884Pro)
c.11750A>C (p.His3917Pro)
c.11507A>C (p.His3836Pro)
c.11282A>C (p.His3761Pro)
c.9281A>C (p.His3094Pro)
c.8510A>C (p.His2837Pro)
c.5882A>C (p.His1961Pro)
c.4931A>C (p.His1644Pro)
15g.28141783G>ACA391381917HERC2c.11764C>T (p.His3922Tyr)
c.3475C>T (p.His1159Tyr)
n.279C>T
c.11650C>T (p.His3884Tyr)
c.11749C>T (p.His3917Tyr)
c.11506C>T (p.His3836Tyr)
c.11281C>T (p.His3761Tyr)
c.9280C>T (p.His3094Tyr)
c.8509C>T (p.His2837Tyr)
c.5881C>T (p.His1961Tyr)
c.4930C>T (p.His1644Tyr)
15g.28141783G>CCA391381919HERC2c.11764C>G (p.His3922Asp)
c.3475C>G (p.His1159Asp)
n.279C>G
c.11650C>G (p.His3884Asp)
c.11749C>G (p.His3917Asp)
c.11506C>G (p.His3836Asp)
c.11281C>G (p.His3761Asp)
c.9280C>G (p.His3094Asp)
c.8509C>G (p.His2837Asp)
c.5881C>G (p.His1961Asp)
c.4930C>G (p.His1644Asp)
15g.28141783G>TCA391381918HERC2c.11764C>A (p.His3922Asn)
c.3475C>A (p.His1159Asn)
n.279C>A
c.11650C>A (p.His3884Asn)
c.11749C>A (p.His3917Asn)
c.11506C>A (p.His3836Asn)
c.11281C>A (p.His3761Asn)
c.9280C>A (p.His3094Asn)
c.8509C>A (p.His2837Asn)
c.5881C>A (p.His1961Asn)
c.4930C>A (p.His1644Asn)
 gnomAD v4
15g.28141784G>ACA489235039HERC2c.11763C>T (p.Ser3921=)
c.3474C>T (p.Ser1158=)
n.278C>T
c.11649C>T (p.Ser3883=)
c.11748C>T (p.Ser3916=)
c.11505C>T (p.Ser3835=)
c.11280C>T (p.Ser3760=)
c.9279C>T (p.Ser3093=)
c.8508C>T (p.Ser2836=)
c.5880C>T (p.Ser1960=)
c.4929C>T (p.Ser1643=)
15g.28141784G>CCA391381920HERC2c.11763C>G (p.Ser3921Arg)
c.3474C>G (p.Ser1158Arg)
n.278C>G
c.11649C>G (p.Ser3883Arg)
c.11748C>G (p.Ser3916Arg)
c.11505C>G (p.Ser3835Arg)
c.11280C>G (p.Ser3760Arg)
c.9279C>G (p.Ser3093Arg)
c.8508C>G (p.Ser2836Arg)
c.5880C>G (p.Ser1960Arg)
c.4929C>G (p.Ser1643Arg)
15g.28141784G>TCA391381921HERC2c.11763C>A (p.Ser3921Arg)
c.3474C>A (p.Ser1158Arg)
n.278C>A
c.11649C>A (p.Ser3883Arg)
c.11748C>A (p.Ser3916Arg)
c.11505C>A (p.Ser3835Arg)
c.11280C>A (p.Ser3760Arg)
c.9279C>A (p.Ser3093Arg)
c.8508C>A (p.Ser2836Arg)
c.5880C>A (p.Ser1960Arg)
c.4929C>A (p.Ser1643Arg)
15g.28141785C>ACA391381922HERC2c.11762G>T (p.Ser3921Ile)
c.3473G>T (p.Ser1158Ile)
n.277G>T
c.11648G>T (p.Ser3883Ile)
c.11747G>T (p.Ser3916Ile)
c.11504G>T (p.Ser3835Ile)
c.11279G>T (p.Ser3760Ile)
c.9278G>T (p.Ser3093Ile)
c.8507G>T (p.Ser2836Ile)
c.5879G>T (p.Ser1960Ile)
c.4928G>T (p.Ser1643Ile)
15g.28141785C=CA2166480096HERC2c.11762G= (p.Ser3921=)
c.3473G= (p.Ser1158=)
n.277G=
c.11648G= (p.Ser3883=)
c.11747G= (p.Ser3916=)
c.11504G= (p.Ser3835=)
c.11279G= (p.Ser3760=)
c.9278G= (p.Ser3093=)
c.8507G= (p.Ser2836=)
c.5879G= (p.Ser1960=)
c.4928G= (p.Ser1643=)
15g.28141785C>GCA391381923HERC2c.11762G>C (p.Ser3921Thr)
c.3473G>C (p.Ser1158Thr)
n.277G>C
c.11648G>C (p.Ser3883Thr)
c.11747G>C (p.Ser3916Thr)
c.11504G>C (p.Ser3835Thr)
c.11279G>C (p.Ser3760Thr)
c.9278G>C (p.Ser3093Thr)
c.8507G>C (p.Ser2836Thr)
c.5879G>C (p.Ser1960Thr)
c.4928G>C (p.Ser1643Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141785C>TCA7440473HERC2c.11762G>A (p.Ser3921Asn)
c.3473G>A (p.Ser1158Asn)
n.277G>A
c.11648G>A (p.Ser3883Asn)
c.11747G>A (p.Ser3916Asn)
c.11504G>A (p.Ser3835Asn)
c.11279G>A (p.Ser3760Asn)
c.9278G>A (p.Ser3093Asn)
c.8507G>A (p.Ser2836Asn)
c.5879G>A (p.Ser1960Asn)
c.4928G>A (p.Ser1643Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141786T>ACA391381924HERC2c.11761A>T (p.Ser3921Cys)
c.3472A>T (p.Ser1158Cys)
n.276A>T
c.11647A>T (p.Ser3883Cys)
c.11746A>T (p.Ser3916Cys)
c.11503A>T (p.Ser3835Cys)
c.11278A>T (p.Ser3760Cys)
c.9277A>T (p.Ser3093Cys)
c.8506A>T (p.Ser2836Cys)
c.5878A>T (p.Ser1960Cys)
c.4927A>T (p.Ser1643Cys)
15g.28141786T>CCA391381925HERC2c.11761A>G (p.Ser3921Gly)
c.3472A>G (p.Ser1158Gly)
n.276A>G
c.11647A>G (p.Ser3883Gly)
c.11746A>G (p.Ser3916Gly)
c.11503A>G (p.Ser3835Gly)
c.11278A>G (p.Ser3760Gly)
c.9277A>G (p.Ser3093Gly)
c.8506A>G (p.Ser2836Gly)
c.5878A>G (p.Ser1960Gly)
c.4927A>G (p.Ser1643Gly)
 dbSNP
15g.28141786T>GCA391381926HERC2c.11761A>C (p.Ser3921Arg)
c.3472A>C (p.Ser1158Arg)
n.276A>C
c.11647A>C (p.Ser3883Arg)
c.11746A>C (p.Ser3916Arg)
c.11503A>C (p.Ser3835Arg)
c.11278A>C (p.Ser3760Arg)
c.9277A>C (p.Ser3093Arg)
c.8506A>C (p.Ser2836Arg)
c.5878A>C (p.Ser1960Arg)
c.4927A>C (p.Ser1643Arg)
 gnomAD v4
15g.28141787C>ACA391381927HERC2c.11760G>T (p.Glu3920Asp)
c.3471G>T (p.Glu1157Asp)
n.275G>T
c.11646G>T (p.Glu3882Asp)
c.11745G>T (p.Glu3915Asp)
c.11502G>T (p.Glu3834Asp)
c.11277G>T (p.Glu3759Asp)
c.9276G>T (p.Glu3092Asp)
c.8505G>T (p.Glu2835Asp)
c.5877G>T (p.Glu1959Asp)
c.4926G>T (p.Glu1642Asp)
15g.28141787C=CA2166480097HERC2c.11760G= (p.Glu3920=)
c.3471G= (p.Glu1157=)
n.275G=
c.11646G= (p.Glu3882=)
c.11745G= (p.Glu3915=)
c.11502G= (p.Glu3834=)
c.11277G= (p.Glu3759=)
c.9276G= (p.Glu3092=)
c.8505G= (p.Glu2835=)
c.5877G= (p.Glu1959=)
c.4926G= (p.Glu1642=)
15g.28141787C>GCA391381928HERC2c.11760G>C (p.Glu3920Asp)
c.3471G>C (p.Glu1157Asp)
n.275G>C
c.11646G>C (p.Glu3882Asp)
c.11745G>C (p.Glu3915Asp)
c.11502G>C (p.Glu3834Asp)
c.11277G>C (p.Glu3759Asp)
c.9276G>C (p.Glu3092Asp)
c.8505G>C (p.Glu2835Asp)
c.5877G>C (p.Glu1959Asp)
c.4926G>C (p.Glu1642Asp)
 dbSNP gnomAD v3 gnomAD v4
15g.28141787C>TCA489235040HERC2c.11760G>A (p.Glu3920=)
c.3471G>A (p.Glu1157=)
n.275G>A
c.11646G>A (p.Glu3882=)
c.11745G>A (p.Glu3915=)
c.11502G>A (p.Glu3834=)
c.11277G>A (p.Glu3759=)
c.9276G>A (p.Glu3092=)
c.8505G>A (p.Glu2835=)
c.5877G>A (p.Glu1959=)
c.4926G>A (p.Glu1642=)
15g.28141788T>ACA391381929HERC2c.11759A>T (p.Glu3920Val)
c.3470A>T (p.Glu1157Val)
n.274A>T
c.11645A>T (p.Glu3882Val)
c.11744A>T (p.Glu3915Val)
c.11501A>T (p.Glu3834Val)
c.11276A>T (p.Glu3759Val)
c.9275A>T (p.Glu3092Val)
c.8504A>T (p.Glu2835Val)
c.5876A>T (p.Glu1959Val)
c.4925A>T (p.Glu1642Val)
15g.28141788T>CCA391381930HERC2c.11759A>G (p.Glu3920Gly)
c.3470A>G (p.Glu1157Gly)
n.274A>G
c.11645A>G (p.Glu3882Gly)
c.11744A>G (p.Glu3915Gly)
c.11501A>G (p.Glu3834Gly)
c.11276A>G (p.Glu3759Gly)
c.9275A>G (p.Glu3092Gly)
c.8504A>G (p.Glu2835Gly)
c.5876A>G (p.Glu1959Gly)
c.4925A>G (p.Glu1642Gly)
15g.28141788T>GCA391381931HERC2c.11759A>C (p.Glu3920Ala)
c.3470A>C (p.Glu1157Ala)
n.274A>C
c.11645A>C (p.Glu3882Ala)
c.11744A>C (p.Glu3915Ala)
c.11501A>C (p.Glu3834Ala)
c.11276A>C (p.Glu3759Ala)
c.9275A>C (p.Glu3092Ala)
c.8504A>C (p.Glu2835Ala)
c.5876A>C (p.Glu1959Ala)
c.4925A>C (p.Glu1642Ala)
15g.28141789C>ACA391381934HERC2c.11758G>T (p.Glu3920Ter)
c.3469G>T (p.Glu1157Ter)
n.273G>T
c.11644G>T (p.Glu3882Ter)
c.11743G>T (p.Glu3915Ter)
c.11500G>T (p.Glu3834Ter)
c.11275G>T (p.Glu3759Ter)
c.9274G>T (p.Glu3092Ter)
c.8503G>T (p.Glu2835Ter)
c.5875G>T (p.Glu1959Ter)
c.4924G>T (p.Glu1642Ter)
15g.28141789C>GCA391381933HERC2c.11758G>C (p.Glu3920Gln)
c.3469G>C (p.Glu1157Gln)
n.273G>C
c.11644G>C (p.Glu3882Gln)
c.11743G>C (p.Glu3915Gln)
c.11500G>C (p.Glu3834Gln)
c.11275G>C (p.Glu3759Gln)
c.9274G>C (p.Glu3092Gln)
c.8503G>C (p.Glu2835Gln)
c.5875G>C (p.Glu1959Gln)
c.4924G>C (p.Glu1642Gln)
15g.28141789C>TCA391381932HERC2c.11758G>A (p.Glu3920Lys)
c.3469G>A (p.Glu1157Lys)
n.273G>A
c.11644G>A (p.Glu3882Lys)
c.11743G>A (p.Glu3915Lys)
c.11500G>A (p.Glu3834Lys)
c.11275G>A (p.Glu3759Lys)
c.9274G>A (p.Glu3092Lys)
c.8503G>A (p.Glu2835Lys)
c.5875G>A (p.Glu1959Lys)
c.4924G>A (p.Glu1642Lys)
15g.28141792_28141800delCA2627386278HERC2c.11750_11758del (p.Val3917_His3919del)
c.3461_3469del (p.Val1154_His1156del)
n.265_273del
c.11636_11644del (p.Val3879_His3881del)
c.11735_11743del (p.Val3912_His3914del)
c.11492_11500del (p.Val3831_His3833del)
c.11267_11275del (p.Val3756_His3758del)
c.9266_9274del (p.Val3089_His3091del)
c.8495_8503del (p.Val2832_His2834del)
c.5867_5875del (p.Val1956_His1958del)
c.4916_4924del (p.Val1639_His1641del)
 gnomAD v4
15g.28141790A=CA2166480098HERC2c.11757T= (p.His3919=)
c.3468T= (p.His1156=)
n.272T=
c.11643T= (p.His3881=)
c.11742T= (p.His3914=)
c.11499T= (p.His3833=)
c.11274T= (p.His3758=)
c.9273T= (p.His3091=)
c.8502T= (p.His2834=)
c.5874T= (p.His1958=)
c.4923T= (p.His1641=)
15g.28141790A>CCA391381935HERC2c.11757T>G (p.His3919Gln)
c.3468T>G (p.His1156Gln)
n.272T>G
c.11643T>G (p.His3881Gln)
c.11742T>G (p.His3914Gln)
c.11499T>G (p.His3833Gln)
c.11274T>G (p.His3758Gln)
c.9273T>G (p.His3091Gln)
c.8502T>G (p.His2834Gln)
c.5874T>G (p.His1958Gln)
c.4923T>G (p.His1641Gln)
15g.28141790A>GCA489235041HERC2c.11757T>C (p.His3919=)
c.3468T>C (p.His1156=)
n.272T>C
c.11643T>C (p.His3881=)
c.11742T>C (p.His3914=)
c.11499T>C (p.His3833=)
c.11274T>C (p.His3758=)
c.9273T>C (p.His3091=)
c.8502T>C (p.His2834=)
c.5874T>C (p.His1958=)
c.4923T>C (p.His1641=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.28141790A>TCA391381936HERC2c.11757T>A (p.His3919Gln)
c.3468T>A (p.His1156Gln)
n.272T>A
c.11643T>A (p.His3881Gln)
c.11742T>A (p.His3914Gln)
c.11499T>A (p.His3833Gln)
c.11274T>A (p.His3758Gln)
c.9273T>A (p.His3091Gln)
c.8502T>A (p.His2834Gln)
c.5874T>A (p.His1958Gln)
c.4923T>A (p.His1641Gln)
15g.28141791T>ACA391381937HERC2c.11756A>T (p.His3919Leu)
c.3467A>T (p.His1156Leu)
n.271A>T
c.11642A>T (p.His3881Leu)
c.11741A>T (p.His3914Leu)
c.11498A>T (p.His3833Leu)
c.11273A>T (p.His3758Leu)
c.9272A>T (p.His3091Leu)
c.8501A>T (p.His2834Leu)
c.5873A>T (p.His1958Leu)
c.4922A>T (p.His1641Leu)
15g.28141791T>CCA391381938HERC2c.11756A>G (p.His3919Arg)
c.3467A>G (p.His1156Arg)
n.271A>G
c.11642A>G (p.His3881Arg)
c.11741A>G (p.His3914Arg)
c.11498A>G (p.His3833Arg)
c.11273A>G (p.His3758Arg)
c.9272A>G (p.His3091Arg)
c.8501A>G (p.His2834Arg)
c.5873A>G (p.His1958Arg)
c.4922A>G (p.His1641Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.28141791T>GCA391381939HERC2c.11756A>C (p.His3919Pro)
c.3467A>C (p.His1156Pro)
n.271A>C
c.11642A>C (p.His3881Pro)
c.11741A>C (p.His3914Pro)
c.11498A>C (p.His3833Pro)
c.11273A>C (p.His3758Pro)
c.9272A>C (p.His3091Pro)
c.8501A>C (p.His2834Pro)
c.5873A>C (p.His1958Pro)
c.4922A>C (p.His1641Pro)
15g.28141791T=CA2166480099HERC2c.11756A= (p.His3919=)
c.3467A= (p.His1156=)
n.271A=
c.11642A= (p.His3881=)
c.11741A= (p.His3914=)
c.11498A= (p.His3833=)
c.11273A= (p.His3758=)
c.9272A= (p.His3091=)
c.8501A= (p.His2834=)
c.5873A= (p.His1958=)
c.4922A= (p.His1641=)
15g.28141792G>ACA391381940HERC2c.11755C>T (p.His3919Tyr)
c.3466C>T (p.His1156Tyr)
n.270C>T
c.11641C>T (p.His3881Tyr)
c.11740C>T (p.His3914Tyr)
c.11497C>T (p.His3833Tyr)
c.11272C>T (p.His3758Tyr)
c.9271C>T (p.His3091Tyr)
c.8500C>T (p.His2834Tyr)
c.5872C>T (p.His1958Tyr)
c.4921C>T (p.His1641Tyr)
 gnomAD v4
15g.28141792G>CCA391381941HERC2c.11755C>G (p.His3919Asp)
c.3466C>G (p.His1156Asp)
n.270C>G
c.11641C>G (p.His3881Asp)
c.11740C>G (p.His3914Asp)
c.11497C>G (p.His3833Asp)
c.11272C>G (p.His3758Asp)
c.9271C>G (p.His3091Asp)
c.8500C>G (p.His2834Asp)
c.5872C>G (p.His1958Asp)
c.4921C>G (p.His1641Asp)
15g.28141792G>TCA391381942HERC2c.11755C>A (p.His3919Asn)
c.3466C>A (p.His1156Asn)
n.270C>A
c.11641C>A (p.His3881Asn)
c.11740C>A (p.His3914Asn)
c.11497C>A (p.His3833Asn)
c.11272C>A (p.His3758Asn)
c.9271C>A (p.His3091Asn)
c.8500C>A (p.His2834Asn)
c.5872C>A (p.His1958Asn)
c.4921C>A (p.His1641Asn)
15g.28141793C>ACA489235045HERC2c.11754G>T (p.Leu3918=)
c.3465G>T (p.Leu1155=)
n.269G>T
c.11640G>T (p.Leu3880=)
c.11739G>T (p.Leu3913=)
c.11496G>T (p.Leu3832=)
c.11271G>T (p.Leu3757=)
c.9270G>T (p.Leu3090=)
c.8499G>T (p.Leu2833=)
c.5871G>T (p.Leu1957=)
c.4920G>T (p.Leu1640=)
15g.28141793C>GCA489235047HERC2c.11754G>C (p.Leu3918=)
c.3465G>C (p.Leu1155=)
n.269G>C
c.11640G>C (p.Leu3880=)
c.11739G>C (p.Leu3913=)
c.11496G>C (p.Leu3832=)
c.11271G>C (p.Leu3757=)
c.9270G>C (p.Leu3090=)
c.8499G>C (p.Leu2833=)
c.5871G>C (p.Leu1957=)
c.4920G>C (p.Leu1640=)
15g.28141793C>TCA489235046HERC2c.11754G>A (p.Leu3918=)
c.3465G>A (p.Leu1155=)
n.269G>A
c.11640G>A (p.Leu3880=)
c.11739G>A (p.Leu3913=)
c.11496G>A (p.Leu3832=)
c.11271G>A (p.Leu3757=)
c.9270G>A (p.Leu3090=)
c.8499G>A (p.Leu2833=)
c.5871G>A (p.Leu1957=)
c.4920G>A (p.Leu1640=)
15g.28141794A=CA2166480100HERC2c.11753T= (p.Leu3918=)
c.3464T= (p.Leu1155=)
n.268T=
c.11639T= (p.Leu3880=)
c.11738T= (p.Leu3913=)
c.11495T= (p.Leu3832=)
c.11270T= (p.Leu3757=)
c.9269T= (p.Leu3090=)
c.8498T= (p.Leu2833=)
c.5870T= (p.Leu1957=)
c.4919T= (p.Leu1640=)
15g.28141794A>CCA391381943HERC2c.11753T>G (p.Leu3918Arg)
c.3464T>G (p.Leu1155Arg)
n.268T>G
c.11639T>G (p.Leu3880Arg)
c.11738T>G (p.Leu3913Arg)
c.11495T>G (p.Leu3832Arg)
c.11270T>G (p.Leu3757Arg)
c.9269T>G (p.Leu3090Arg)
c.8498T>G (p.Leu2833Arg)
c.5870T>G (p.Leu1957Arg)
c.4919T>G (p.Leu1640Arg)
15g.28141794A>GCA391381944HERC2c.11753T>C (p.Leu3918Pro)
c.3464T>C (p.Leu1155Pro)
n.268T>C
c.11639T>C (p.Leu3880Pro)
c.11738T>C (p.Leu3913Pro)
c.11495T>C (p.Leu3832Pro)
c.11270T>C (p.Leu3757Pro)
c.9269T>C (p.Leu3090Pro)
c.8498T>C (p.Leu2833Pro)
c.5870T>C (p.Leu1957Pro)
c.4919T>C (p.Leu1640Pro)
 dbSNP gnomAD v4
15g.28141794A>TCA391381945HERC2c.11753T>A (p.Leu3918Gln)
c.3464T>A (p.Leu1155Gln)
n.268T>A
c.11639T>A (p.Leu3880Gln)
c.11738T>A (p.Leu3913Gln)
c.11495T>A (p.Leu3832Gln)
c.11270T>A (p.Leu3757Gln)
c.9269T>A (p.Leu3090Gln)
c.8498T>A (p.Leu2833Gln)
c.5870T>A (p.Leu1957Gln)
c.4919T>A (p.Leu1640Gln)
15g.28141795G>ACA489235048HERC2c.11752C>T (p.Leu3918=)
c.3463C>T (p.Leu1155=)
n.267C>T
c.11638C>T (p.Leu3880=)
c.11737C>T (p.Leu3913=)
c.11494C>T (p.Leu3832=)
c.11269C>T (p.Leu3757=)
c.9268C>T (p.Leu3090=)
c.8497C>T (p.Leu2833=)
c.5869C>T (p.Leu1957=)
c.4918C>T (p.Leu1640=)
15g.28141795G>CCA391381946HERC2c.11752C>G (p.Leu3918Val)
c.3463C>G (p.Leu1155Val)
n.267C>G
c.11638C>G (p.Leu3880Val)
c.11737C>G (p.Leu3913Val)
c.11494C>G (p.Leu3832Val)
c.11269C>G (p.Leu3757Val)
c.9268C>G (p.Leu3090Val)
c.8497C>G (p.Leu2833Val)
c.5869C>G (p.Leu1957Val)
c.4918C>G (p.Leu1640Val)
 dbSNP gnomAD v2 gnomAD v4
15g.28141795G=CA2166480101HERC2c.11752C= (p.Leu3918=)
c.3463C= (p.Leu1155=)
n.267C=
c.11638C= (p.Leu3880=)
c.11737C= (p.Leu3913=)
c.11494C= (p.Leu3832=)
c.11269C= (p.Leu3757=)
c.9268C= (p.Leu3090=)
c.8497C= (p.Leu2833=)
c.5869C= (p.Leu1957=)
c.4918C= (p.Leu1640=)
15g.28141795G>TCA7440474HERC2c.11752C>A (p.Leu3918Met)
c.3463C>A (p.Leu1155Met)
n.267C>A
c.11638C>A (p.Leu3880Met)
c.11737C>A (p.Leu3913Met)
c.11494C>A (p.Leu3832Met)
c.11269C>A (p.Leu3757Met)
c.9268C>A (p.Leu3090Met)
c.8497C>A (p.Leu2833Met)
c.5869C>A (p.Leu1957Met)
c.4918C>A (p.Leu1640Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141796A=CA2166480102HERC2c.11751T= (p.Val3917=)
c.3462T= (p.Val1154=)
n.266T=
c.11637T= (p.Val3879=)
c.11736T= (p.Val3912=)
c.11493T= (p.Val3831=)
c.11268T= (p.Val3756=)
c.9267T= (p.Val3089=)
c.8496T= (p.Val2832=)
c.5868T= (p.Val1956=)
c.4917T= (p.Val1639=)
15g.28141796A>CCA489235050HERC2c.11751T>G (p.Val3917=)
c.3462T>G (p.Val1154=)
n.266T>G
c.11637T>G (p.Val3879=)
c.11736T>G (p.Val3912=)
c.11493T>G (p.Val3831=)
c.11268T>G (p.Val3756=)
c.9267T>G (p.Val3089=)
c.8496T>G (p.Val2832=)
c.5868T>G (p.Val1956=)
c.4917T>G (p.Val1639=)
15g.28141796A>GCA489235052HERC2c.11751T>C (p.Val3917=)
c.3462T>C (p.Val1154=)
n.266T>C
c.11637T>C (p.Val3879=)
c.11736T>C (p.Val3912=)
c.11493T>C (p.Val3831=)
c.11268T>C (p.Val3756=)
c.9267T>C (p.Val3089=)
c.8496T>C (p.Val2832=)
c.5868T>C (p.Val1956=)
c.4917T>C (p.Val1639=)
 dbSNP
15g.28141796A>TCA489235054HERC2c.11751T>A (p.Val3917=)
c.3462T>A (p.Val1154=)
n.266T>A
c.11637T>A (p.Val3879=)
c.11736T>A (p.Val3912=)
c.11493T>A (p.Val3831=)
c.11268T>A (p.Val3756=)
c.9267T>A (p.Val3089=)
c.8496T>A (p.Val2832=)
c.5868T>A (p.Val1956=)
c.4917T>A (p.Val1639=)
15g.28141797A>CCA391381948HERC2c.11750T>G (p.Val3917Gly)
c.3461T>G (p.Val1154Gly)
n.265T>G
c.11636T>G (p.Val3879Gly)
c.11735T>G (p.Val3912Gly)
c.11492T>G (p.Val3831Gly)
c.11267T>G (p.Val3756Gly)
c.9266T>G (p.Val3089Gly)
c.8495T>G (p.Val2832Gly)
c.5867T>G (p.Val1956Gly)
c.4916T>G (p.Val1639Gly)
15g.28141797A>GCA391381949HERC2c.11750T>C (p.Val3917Ala)
c.3461T>C (p.Val1154Ala)
n.265T>C
c.11636T>C (p.Val3879Ala)
c.11735T>C (p.Val3912Ala)
c.11492T>C (p.Val3831Ala)
c.11267T>C (p.Val3756Ala)
c.9266T>C (p.Val3089Ala)
c.8495T>C (p.Val2832Ala)
c.5867T>C (p.Val1956Ala)
c.4916T>C (p.Val1639Ala)
15g.28141797A>TCA391381947HERC2c.11750T>A (p.Val3917Asp)
c.3461T>A (p.Val1154Asp)
n.265T>A
c.11636T>A (p.Val3879Asp)
c.11735T>A (p.Val3912Asp)
c.11492T>A (p.Val3831Asp)
c.11267T>A (p.Val3756Asp)
c.9266T>A (p.Val3089Asp)
c.8495T>A (p.Val2832Asp)
c.5867T>A (p.Val1956Asp)
c.4916T>A (p.Val1639Asp)
15g.28141798C>ACA391381950HERC2c.11749G>T (p.Val3917Phe)
c.3460G>T (p.Val1154Phe)
n.264G>T
c.11635G>T (p.Val3879Phe)
c.11734G>T (p.Val3912Phe)
c.11491G>T (p.Val3831Phe)
c.11266G>T (p.Val3756Phe)
c.9265G>T (p.Val3089Phe)
c.8494G>T (p.Val2832Phe)
c.5866G>T (p.Val1956Phe)
c.4915G>T (p.Val1639Phe)
 gnomAD v4 COSMIC
15g.28141798C=CA2166480103HERC2c.11749G= (p.Val3917=)
c.3460G= (p.Val1154=)
n.264G=
c.11635G= (p.Val3879=)
c.11734G= (p.Val3912=)
c.11491G= (p.Val3831=)
c.11266G= (p.Val3756=)
c.9265G= (p.Val3089=)
c.8494G= (p.Val2832=)
c.5866G= (p.Val1956=)
c.4915G= (p.Val1639=)
15g.28141798C>GCA391381951HERC2c.11749G>C (p.Val3917Leu)
c.3460G>C (p.Val1154Leu)
n.264G>C
c.11635G>C (p.Val3879Leu)
c.11734G>C (p.Val3912Leu)
c.11491G>C (p.Val3831Leu)
c.11266G>C (p.Val3756Leu)
c.9265G>C (p.Val3089Leu)
c.8494G>C (p.Val2832Leu)
c.5866G>C (p.Val1956Leu)
c.4915G>C (p.Val1639Leu)
15g.28141798C>TCA7440475HERC2c.11749G>A (p.Val3917Ile)
c.3460G>A (p.Val1154Ile)
n.264G>A
c.11635G>A (p.Val3879Ile)
c.11734G>A (p.Val3912Ile)
c.11491G>A (p.Val3831Ile)
c.11266G>A (p.Val3756Ile)
c.9265G>A (p.Val3089Ile)
c.8494G>A (p.Val2832Ile)
c.5866G>A (p.Val1956Ile)
c.4915G>A (p.Val1639Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141799A>CCA391381952HERC2c.11748T>G (p.Asp3916Glu)
c.3459T>G (p.Asp1153Glu)
n.263T>G
c.11634T>G (p.Asp3878Glu)
c.11733T>G (p.Asp3911Glu)
c.11490T>G (p.Asp3830Glu)
c.11265T>G (p.Asp3755Glu)
c.9264T>G (p.Asp3088Glu)
c.8493T>G (p.Asp2831Glu)
c.5865T>G (p.Asp1955Glu)
c.4914T>G (p.Asp1638Glu)
15g.28141799A>GCA489235055HERC2c.11748T>C (p.Asp3916=)
c.3459T>C (p.Asp1153=)
n.263T>C
c.11634T>C (p.Asp3878=)
c.11733T>C (p.Asp3911=)
c.11490T>C (p.Asp3830=)
c.11265T>C (p.Asp3755=)
c.9264T>C (p.Asp3088=)
c.8493T>C (p.Asp2831=)
c.5865T>C (p.Asp1955=)
c.4914T>C (p.Asp1638=)
15g.28141799A>TCA391381953HERC2c.11748T>A (p.Asp3916Glu)
c.3459T>A (p.Asp1153Glu)
n.263T>A
c.11634T>A (p.Asp3878Glu)
c.11733T>A (p.Asp3911Glu)
c.11490T>A (p.Asp3830Glu)
c.11265T>A (p.Asp3755Glu)
c.9264T>A (p.Asp3088Glu)
c.8493T>A (p.Asp2831Glu)
c.5865T>A (p.Asp1955Glu)
c.4914T>A (p.Asp1638Glu)
15g.28141800T>ACA391381954HERC2c.11747A>T (p.Asp3916Val)
c.3458A>T (p.Asp1153Val)
n.262A>T
c.11633A>T (p.Asp3878Val)
c.11732A>T (p.Asp3911Val)
c.11489A>T (p.Asp3830Val)
c.11264A>T (p.Asp3755Val)
c.9263A>T (p.Asp3088Val)
c.8492A>T (p.Asp2831Val)
c.5864A>T (p.Asp1955Val)
c.4913A>T (p.Asp1638Val)
15g.28141800T>CCA391381955HERC2c.11747A>G (p.Asp3916Gly)
c.3458A>G (p.Asp1153Gly)
n.262A>G
c.11633A>G (p.Asp3878Gly)
c.11732A>G (p.Asp3911Gly)
c.11489A>G (p.Asp3830Gly)
c.11264A>G (p.Asp3755Gly)
c.9263A>G (p.Asp3088Gly)
c.8492A>G (p.Asp2831Gly)
c.5864A>G (p.Asp1955Gly)
c.4913A>G (p.Asp1638Gly)
15g.28141800T>GCA391381956HERC2c.11747A>C (p.Asp3916Ala)
c.3458A>C (p.Asp1153Ala)
n.262A>C
c.11633A>C (p.Asp3878Ala)
c.11732A>C (p.Asp3911Ala)
c.11489A>C (p.Asp3830Ala)
c.11264A>C (p.Asp3755Ala)
c.9263A>C (p.Asp3088Ala)
c.8492A>C (p.Asp2831Ala)
c.5864A>C (p.Asp1955Ala)
c.4913A>C (p.Asp1638Ala)
15g.28141801C>ACA391381957HERC2c.11746G>T (p.Asp3916Tyr)
c.3457G>T (p.Asp1153Tyr)
n.261G>T
c.11632G>T (p.Asp3878Tyr)
c.11731G>T (p.Asp3911Tyr)
c.11488G>T (p.Asp3830Tyr)
c.11263G>T (p.Asp3755Tyr)
c.9262G>T (p.Asp3088Tyr)
c.8491G>T (p.Asp2831Tyr)
c.5863G>T (p.Asp1955Tyr)
c.4912G>T (p.Asp1638Tyr)
15g.28141801C=CA2166480104HERC2c.11746G= (p.Asp3916=)
c.3457G= (p.Asp1153=)
n.261G=
c.11632G= (p.Asp3878=)
c.11731G= (p.Asp3911=)
c.11488G= (p.Asp3830=)
c.11263G= (p.Asp3755=)
c.9262G= (p.Asp3088=)
c.8491G= (p.Asp2831=)
c.5863G= (p.Asp1955=)
c.4912G= (p.Asp1638=)
15g.28141801C>GCA391381958HERC2c.11746G>C (p.Asp3916His)
c.3457G>C (p.Asp1153His)
n.261G>C
c.11632G>C (p.Asp3878His)
c.11731G>C (p.Asp3911His)
c.11488G>C (p.Asp3830His)
c.11263G>C (p.Asp3755His)
c.9262G>C (p.Asp3088His)
c.8491G>C (p.Asp2831His)
c.5863G>C (p.Asp1955His)
c.4912G>C (p.Asp1638His)
15g.28141801C>TCA7440476HERC2c.11746G>A (p.Asp3916Asn)
c.3457G>A (p.Asp1153Asn)
n.261G>A
c.11632G>A (p.Asp3878Asn)
c.11731G>A (p.Asp3911Asn)
c.11488G>A (p.Asp3830Asn)
c.11263G>A (p.Asp3755Asn)
c.9262G>A (p.Asp3088Asn)
c.8491G>A (p.Asp2831Asn)
c.5863G>A (p.Asp1955Asn)
c.4912G>A (p.Asp1638Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141802C>ACA391381961HERC2c.11745G>T (p.Met3915Ile)
c.3456G>T (p.Met1152Ile)
n.260G>T
c.11631G>T (p.Met3877Ile)
c.11730G>T (p.Met3910Ile)
c.11487G>T (p.Met3829Ile)
c.11262G>T (p.Met3754Ile)
c.9261G>T (p.Met3087Ile)
c.8490G>T (p.Met2830Ile)
c.5862G>T (p.Met1954Ile)
c.4911G>T (p.Met1637Ile)
 dbSNP gnomAD v2 gnomAD v4
15g.28141802C=CA2166480105HERC2c.11745G= (p.Met3915=)
c.3456G= (p.Met1152=)
n.260G=
c.11631G= (p.Met3877=)
c.11730G= (p.Met3910=)
c.11487G= (p.Met3829=)
c.11262G= (p.Met3754=)
c.9261G= (p.Met3087=)
c.8490G= (p.Met2830=)
c.5862G= (p.Met1954=)
c.4911G= (p.Met1637=)
15g.28141802C>GCA391381960HERC2c.11745G>C (p.Met3915Ile)
c.3456G>C (p.Met1152Ile)
n.260G>C
c.11631G>C (p.Met3877Ile)
c.11730G>C (p.Met3910Ile)
c.11487G>C (p.Met3829Ile)
c.11262G>C (p.Met3754Ile)
c.9261G>C (p.Met3087Ile)
c.8490G>C (p.Met2830Ile)
c.5862G>C (p.Met1954Ile)
c.4911G>C (p.Met1637Ile)
15g.28141802C>TCA391381959HERC2c.11745G>A (p.Met3915Ile)
c.3456G>A (p.Met1152Ile)
n.260G>A
c.11631G>A (p.Met3877Ile)
c.11730G>A (p.Met3910Ile)
c.11487G>A (p.Met3829Ile)
c.11262G>A (p.Met3754Ile)
c.9261G>A (p.Met3087Ile)
c.8490G>A (p.Met2830Ile)
c.5862G>A (p.Met1954Ile)
c.4911G>A (p.Met1637Ile)
15g.28141803A>CCA391381962HERC2c.11744T>G (p.Met3915Arg)
c.3455T>G (p.Met1152Arg)
n.259T>G
c.11630T>G (p.Met3877Arg)
c.11729T>G (p.Met3910Arg)
c.11486T>G (p.Met3829Arg)
c.11261T>G (p.Met3754Arg)
c.9260T>G (p.Met3087Arg)
c.8489T>G (p.Met2830Arg)
c.5861T>G (p.Met1954Arg)
c.4910T>G (p.Met1637Arg)
15g.28141803A>GCA391381963HERC2c.11744T>C (p.Met3915Thr)
c.3455T>C (p.Met1152Thr)
n.259T>C
c.11630T>C (p.Met3877Thr)
c.11729T>C (p.Met3910Thr)
c.11486T>C (p.Met3829Thr)
c.11261T>C (p.Met3754Thr)
c.9260T>C (p.Met3087Thr)
c.8489T>C (p.Met2830Thr)
c.5861T>C (p.Met1954Thr)
c.4910T>C (p.Met1637Thr)
 gnomAD v4
15g.28141803A>TCA391381964HERC2c.11744T>A (p.Met3915Lys)
c.3455T>A (p.Met1152Lys)
n.259T>A
c.11630T>A (p.Met3877Lys)
c.11729T>A (p.Met3910Lys)
c.11486T>A (p.Met3829Lys)
c.11261T>A (p.Met3754Lys)
c.9260T>A (p.Met3087Lys)
c.8489T>A (p.Met2830Lys)
c.5861T>A (p.Met1954Lys)
c.4910T>A (p.Met1637Lys)
15g.28141804T>ACA391381965HERC2c.11743A>T (p.Met3915Leu)
c.3454A>T (p.Met1152Leu)
n.258A>T
c.11629A>T (p.Met3877Leu)
c.11728A>T (p.Met3910Leu)
c.11485A>T (p.Met3829Leu)
c.11260A>T (p.Met3754Leu)
c.9259A>T (p.Met3087Leu)
c.8488A>T (p.Met2830Leu)
c.5860A>T (p.Met1954Leu)
c.4909A>T (p.Met1637Leu)
15g.28141804T>CCA267946441HERC2c.11743A>G (p.Met3915Val)
c.3454A>G (p.Met1152Val)
n.258A>G
c.11629A>G (p.Met3877Val)
c.11728A>G (p.Met3910Val)
c.11485A>G (p.Met3829Val)
c.11260A>G (p.Met3754Val)
c.9259A>G (p.Met3087Val)
c.8488A>G (p.Met2830Val)
c.5860A>G (p.Met1954Val)
c.4909A>G (p.Met1637Val)
 dbSNP gnomAD v3 gnomAD v4
15g.28141804T>GCA391381966HERC2c.11743A>C (p.Met3915Leu)
c.3454A>C (p.Met1152Leu)
n.258A>C
c.11629A>C (p.Met3877Leu)
c.11728A>C (p.Met3910Leu)
c.11485A>C (p.Met3829Leu)
c.11260A>C (p.Met3754Leu)
c.9259A>C (p.Met3087Leu)
c.8488A>C (p.Met2830Leu)
c.5860A>C (p.Met1954Leu)
c.4909A>C (p.Met1637Leu)
15g.28141804T=CA2166480106HERC2c.11743A= (p.Met3915=)
c.3454A= (p.Met1152=)
n.258A=
c.11629A= (p.Met3877=)
c.11728A= (p.Met3910=)
c.11485A= (p.Met3829=)
c.11260A= (p.Met3754=)
c.9259A= (p.Met3087=)
c.8488A= (p.Met2830=)
c.5860A= (p.Met1954=)
c.4909A= (p.Met1637=)
15g.28141805G>ACA489235061HERC2c.11742C>T (p.Asn3914=)
c.3453C>T (p.Asn1151=)
n.257C>T
c.11628C>T (p.Asn3876=)
c.11727C>T (p.Asn3909=)
c.11484C>T (p.Asn3828=)
c.11259C>T (p.Asn3753=)
c.9258C>T (p.Asn3086=)
c.8487C>T (p.Asn2829=)
c.5859C>T (p.Asn1953=)
c.4908C>T (p.Asn1636=)
15g.28141805G>CCA391381967HERC2c.11742C>G (p.Asn3914Lys)
c.3453C>G (p.Asn1151Lys)
n.257C>G
c.11628C>G (p.Asn3876Lys)
c.11727C>G (p.Asn3909Lys)
c.11484C>G (p.Asn3828Lys)
c.11259C>G (p.Asn3753Lys)
c.9258C>G (p.Asn3086Lys)
c.8487C>G (p.Asn2829Lys)
c.5859C>G (p.Asn1953Lys)
c.4908C>G (p.Asn1636Lys)
15g.28141805G>TCA391381968HERC2c.11742C>A (p.Asn3914Lys)
c.3453C>A (p.Asn1151Lys)
n.257C>A
c.11628C>A (p.Asn3876Lys)
c.11727C>A (p.Asn3909Lys)
c.11484C>A (p.Asn3828Lys)
c.11259C>A (p.Asn3753Lys)
c.9258C>A (p.Asn3086Lys)
c.8487C>A (p.Asn2829Lys)
c.5859C>A (p.Asn1953Lys)
c.4908C>A (p.Asn1636Lys)
15g.28141806T>ACA391381969HERC2c.11741A>T (p.Asn3914Ile)
c.3452A>T (p.Asn1151Ile)
n.256A>T
c.11627A>T (p.Asn3876Ile)
c.11726A>T (p.Asn3909Ile)
c.11483A>T (p.Asn3828Ile)
c.11258A>T (p.Asn3753Ile)
c.9257A>T (p.Asn3086Ile)
c.8486A>T (p.Asn2829Ile)
c.5858A>T (p.Asn1953Ile)
c.4907A>T (p.Asn1636Ile)
15g.28141806T>CCA391381970HERC2c.11741A>G (p.Asn3914Ser)
c.3452A>G (p.Asn1151Ser)
n.256A>G
c.11627A>G (p.Asn3876Ser)
c.11726A>G (p.Asn3909Ser)
c.11483A>G (p.Asn3828Ser)
c.11258A>G (p.Asn3753Ser)
c.9257A>G (p.Asn3086Ser)
c.8486A>G (p.Asn2829Ser)
c.5858A>G (p.Asn1953Ser)
c.4907A>G (p.Asn1636Ser)
15g.28141806T>GCA391381971HERC2c.11741A>C (p.Asn3914Thr)
c.3452A>C (p.Asn1151Thr)
n.256A>C
c.11627A>C (p.Asn3876Thr)
c.11726A>C (p.Asn3909Thr)
c.11483A>C (p.Asn3828Thr)
c.11258A>C (p.Asn3753Thr)
c.9257A>C (p.Asn3086Thr)
c.8486A>C (p.Asn2829Thr)
c.5858A>C (p.Asn1953Thr)
c.4907A>C (p.Asn1636Thr)
15g.28141807T>ACA391381974HERC2c.11740A>T (p.Asn3914Tyr)
c.3451A>T (p.Asn1151Tyr)
n.255A>T
c.11626A>T (p.Asn3876Tyr)
c.11725A>T (p.Asn3909Tyr)
c.11482A>T (p.Asn3828Tyr)
c.11257A>T (p.Asn3753Tyr)
c.9256A>T (p.Asn3086Tyr)
c.8485A>T (p.Asn2829Tyr)
c.5857A>T (p.Asn1953Tyr)
c.4906A>T (p.Asn1636Tyr)
15g.28141807T>CCA391381973HERC2c.11740A>G (p.Asn3914Asp)
c.3451A>G (p.Asn1151Asp)
n.255A>G
c.11626A>G (p.Asn3876Asp)
c.11725A>G (p.Asn3909Asp)
c.11482A>G (p.Asn3828Asp)
c.11257A>G (p.Asn3753Asp)
c.9256A>G (p.Asn3086Asp)
c.8485A>G (p.Asn2829Asp)
c.5857A>G (p.Asn1953Asp)
c.4906A>G (p.Asn1636Asp)
15g.28141807T>GCA391381972HERC2c.11740A>C (p.Asn3914His)
c.3451A>C (p.Asn1151His)
n.255A>C
c.11626A>C (p.Asn3876His)
c.11725A>C (p.Asn3909His)
c.11482A>C (p.Asn3828His)
c.11257A>C (p.Asn3753His)
c.9256A>C (p.Asn3086His)
c.8485A>C (p.Asn2829His)
c.5857A>C (p.Asn1953His)
c.4906A>C (p.Asn1636His)
15g.28141808T>ACA391381975HERC2c.11739A>T (p.Glu3913Asp)
c.3450A>T (p.Glu1150Asp)
n.254A>T
c.11625A>T (p.Glu3875Asp)
c.11724A>T (p.Glu3908Asp)
c.11481A>T (p.Glu3827Asp)
c.11256A>T (p.Glu3752Asp)
c.9255A>T (p.Glu3085Asp)
c.8484A>T (p.Glu2828Asp)
c.5856A>T (p.Glu1952Asp)
c.4905A>T (p.Glu1635Asp)
15g.28141808T>CCA489235064HERC2c.11739A>G (p.Glu3913=)
c.3450A>G (p.Glu1150=)
n.254A>G
c.11625A>G (p.Glu3875=)
c.11724A>G (p.Glu3908=)
c.11481A>G (p.Glu3827=)
c.11256A>G (p.Glu3752=)
c.9255A>G (p.Glu3085=)
c.8484A>G (p.Glu2828=)
c.5856A>G (p.Glu1952=)
c.4905A>G (p.Glu1635=)
15g.28141808T>GCA391381976HERC2c.11739A>C (p.Glu3913Asp)
c.3450A>C (p.Glu1150Asp)
n.254A>C
c.11625A>C (p.Glu3875Asp)
c.11724A>C (p.Glu3908Asp)
c.11481A>C (p.Glu3827Asp)
c.11256A>C (p.Glu3752Asp)
c.9255A>C (p.Glu3085Asp)
c.8484A>C (p.Glu2828Asp)
c.5856A>C (p.Glu1952Asp)
c.4905A>C (p.Glu1635Asp)
15g.28141809T>ACA391381977HERC2c.11738A>T (p.Glu3913Val)
c.3449A>T (p.Glu1150Val)
n.253A>T
c.11624A>T (p.Glu3875Val)
c.11723A>T (p.Glu3908Val)
c.11480A>T (p.Glu3827Val)
c.11255A>T (p.Glu3752Val)
c.9254A>T (p.Glu3085Val)
c.8483A>T (p.Glu2828Val)
c.5855A>T (p.Glu1952Val)
c.4904A>T (p.Glu1635Val)
15g.28141809T>CCA391381978HERC2c.11738A>G (p.Glu3913Gly)
c.3449A>G (p.Glu1150Gly)
n.253A>G
c.11624A>G (p.Glu3875Gly)
c.11723A>G (p.Glu3908Gly)
c.11480A>G (p.Glu3827Gly)
c.11255A>G (p.Glu3752Gly)
c.9254A>G (p.Glu3085Gly)
c.8483A>G (p.Glu2828Gly)
c.5855A>G (p.Glu1952Gly)
c.4904A>G (p.Glu1635Gly)
15g.28141809T>GCA391381979HERC2c.11738A>C (p.Glu3913Ala)
c.3449A>C (p.Glu1150Ala)
n.253A>C
c.11624A>C (p.Glu3875Ala)
c.11723A>C (p.Glu3908Ala)
c.11480A>C (p.Glu3827Ala)
c.11255A>C (p.Glu3752Ala)
c.9254A>C (p.Glu3085Ala)
c.8483A>C (p.Glu2828Ala)
c.5855A>C (p.Glu1952Ala)
c.4904A>C (p.Glu1635Ala)
15g.28141810C>ACA391381980HERC2c.11737G>T (p.Glu3913Ter)
c.3448G>T (p.Glu1150Ter)
n.252G>T
c.11623G>T (p.Glu3875Ter)
c.11722G>T (p.Glu3908Ter)
c.11479G>T (p.Glu3827Ter)
c.11254G>T (p.Glu3752Ter)
c.9253G>T (p.Glu3085Ter)
c.8482G>T (p.Glu2828Ter)
c.5854G>T (p.Glu1952Ter)
c.4903G>T (p.Glu1635Ter)
15g.28141810C=CA2166480107HERC2c.11737G= (p.Glu3913=)
c.3448G= (p.Glu1150=)
n.252G=
c.11623G= (p.Glu3875=)
c.11722G= (p.Glu3908=)
c.11479G= (p.Glu3827=)
c.11254G= (p.Glu3752=)
c.9253G= (p.Glu3085=)
c.8482G= (p.Glu2828=)
c.5854G= (p.Glu1952=)
c.4903G= (p.Glu1635=)
15g.28141810C>GCA391381981HERC2c.11737G>C (p.Glu3913Gln)
c.3448G>C (p.Glu1150Gln)
n.252G>C
c.11623G>C (p.Glu3875Gln)
c.11722G>C (p.Glu3908Gln)
c.11479G>C (p.Glu3827Gln)
c.11254G>C (p.Glu3752Gln)
c.9253G>C (p.Glu3085Gln)
c.8482G>C (p.Glu2828Gln)
c.5854G>C (p.Glu1952Gln)
c.4903G>C (p.Glu1635Gln)
15g.28141810C>TCA391381982HERC2c.11737G>A (p.Glu3913Lys)
c.3448G>A (p.Glu1150Lys)
n.252G>A
c.11623G>A (p.Glu3875Lys)
c.11722G>A (p.Glu3908Lys)
c.11479G>A (p.Glu3827Lys)
c.11254G>A (p.Glu3752Lys)
c.9253G>A (p.Glu3085Lys)
c.8482G>A (p.Glu2828Lys)
c.5854G>A (p.Glu1952Lys)
c.4903G>A (p.Glu1635Lys)
 ClinVar dbSNP gnomAD v4
15g.28141811G>ACA7440477HERC2c.11736C>T (p.Ser3912=)
c.3447C>T (p.Ser1149=)
n.251C>T
c.11622C>T (p.Ser3874=)
c.11721C>T (p.Ser3907=)
c.11478C>T (p.Ser3826=)
c.11253C>T (p.Ser3751=)
c.9252C>T (p.Ser3084=)
c.8481C>T (p.Ser2827=)
c.5853C>T (p.Ser1951=)
c.4902C>T (p.Ser1634=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141811G>CCA391381983HERC2c.11736C>G (p.Ser3912Arg)
c.3447C>G (p.Ser1149Arg)
n.251C>G
c.11622C>G (p.Ser3874Arg)
c.11721C>G (p.Ser3907Arg)
c.11478C>G (p.Ser3826Arg)
c.11253C>G (p.Ser3751Arg)
c.9252C>G (p.Ser3084Arg)
c.8481C>G (p.Ser2827Arg)
c.5853C>G (p.Ser1951Arg)
c.4902C>G (p.Ser1634Arg)
15g.28141811G=CA2166480108HERC2c.11736C= (p.Ser3912=)
c.3447C= (p.Ser1149=)
n.251C=
c.11622C= (p.Ser3874=)
c.11721C= (p.Ser3907=)
c.11478C= (p.Ser3826=)
c.11253C= (p.Ser3751=)
c.9252C= (p.Ser3084=)
c.8481C= (p.Ser2827=)
c.5853C= (p.Ser1951=)
c.4902C= (p.Ser1634=)
15g.28141811G>TCA391381984HERC2c.11736C>A (p.Ser3912Arg)
c.3447C>A (p.Ser1149Arg)
n.251C>A
c.11622C>A (p.Ser3874Arg)
c.11721C>A (p.Ser3907Arg)
c.11478C>A (p.Ser3826Arg)
c.11253C>A (p.Ser3751Arg)
c.9252C>A (p.Ser3084Arg)
c.8481C>A (p.Ser2827Arg)
c.5853C>A (p.Ser1951Arg)
c.4902C>A (p.Ser1634Arg)
15g.28141812C>ACA391381985HERC2c.11735G>T (p.Ser3912Ile)
c.3446G>T (p.Ser1149Ile)
n.250G>T
c.11621G>T (p.Ser3874Ile)
c.11720G>T (p.Ser3907Ile)
c.11477G>T (p.Ser3826Ile)
c.11252G>T (p.Ser3751Ile)
c.9251G>T (p.Ser3084Ile)
c.8480G>T (p.Ser2827Ile)
c.5852G>T (p.Ser1951Ile)
c.4901G>T (p.Ser1634Ile)
15g.28141812C=CA2166480109HERC2c.11735G= (p.Ser3912=)
c.3446G= (p.Ser1149=)
n.250G=
c.11621G= (p.Ser3874=)
c.11720G= (p.Ser3907=)
c.11477G= (p.Ser3826=)
c.11252G= (p.Ser3751=)
c.9251G= (p.Ser3084=)
c.8480G= (p.Ser2827=)
c.5852G= (p.Ser1951=)
c.4901G= (p.Ser1634=)
15g.28141812C>GCA391381986HERC2c.11735G>C (p.Ser3912Thr)
c.3446G>C (p.Ser1149Thr)
n.250G>C
c.11621G>C (p.Ser3874Thr)
c.11720G>C (p.Ser3907Thr)
c.11477G>C (p.Ser3826Thr)
c.11252G>C (p.Ser3751Thr)
c.9251G>C (p.Ser3084Thr)
c.8480G>C (p.Ser2827Thr)
c.5852G>C (p.Ser1951Thr)
c.4901G>C (p.Ser1634Thr)
15g.28141812C>TCA7440478HERC2c.11735G>A (p.Ser3912Asn)
c.3446G>A (p.Ser1149Asn)
n.250G>A
c.11621G>A (p.Ser3874Asn)
c.11720G>A (p.Ser3907Asn)
c.11477G>A (p.Ser3826Asn)
c.11252G>A (p.Ser3751Asn)
c.9251G>A (p.Ser3084Asn)
c.8480G>A (p.Ser2827Asn)
c.5852G>A (p.Ser1951Asn)
c.4901G>A (p.Ser1634Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141813T>ACA391381989HERC2c.11734A>T (p.Ser3912Cys)
c.3445A>T (p.Ser1149Cys)
n.249A>T
c.11620A>T (p.Ser3874Cys)
c.11719A>T (p.Ser3907Cys)
c.11476A>T (p.Ser3826Cys)
c.11251A>T (p.Ser3751Cys)
c.9250A>T (p.Ser3084Cys)
c.8479A>T (p.Ser2827Cys)
c.5851A>T (p.Ser1951Cys)
c.4900A>T (p.Ser1634Cys)
15g.28141813T>CCA391381988HERC2c.11734A>G (p.Ser3912Gly)
c.3445A>G (p.Ser1149Gly)
n.249A>G
c.11620A>G (p.Ser3874Gly)
c.11719A>G (p.Ser3907Gly)
c.11476A>G (p.Ser3826Gly)
c.11251A>G (p.Ser3751Gly)
c.9250A>G (p.Ser3084Gly)
c.8479A>G (p.Ser2827Gly)
c.5851A>G (p.Ser1951Gly)
c.4900A>G (p.Ser1634Gly)
 dbSNP gnomAD v4
15g.28141813T>GCA391381987HERC2c.11734A>C (p.Ser3912Arg)
c.3445A>C (p.Ser1149Arg)
n.249A>C
c.11620A>C (p.Ser3874Arg)
c.11719A>C (p.Ser3907Arg)
c.11476A>C (p.Ser3826Arg)
c.11251A>C (p.Ser3751Arg)
c.9250A>C (p.Ser3084Arg)
c.8479A>C (p.Ser2827Arg)
c.5851A>C (p.Ser1951Arg)
c.4900A>C (p.Ser1634Arg)
 COSMIC COSMIC
15g.28141813T=CA2166480110HERC2c.11734A= (p.Ser3912=)
c.3445A= (p.Ser1149=)
n.249A=
c.11620A= (p.Ser3874=)
c.11719A= (p.Ser3907=)
c.11476A= (p.Ser3826=)
c.11251A= (p.Ser3751=)
c.9250A= (p.Ser3084=)
c.8479A= (p.Ser2827=)
c.5851A= (p.Ser1951=)
c.4900A= (p.Ser1634=)
15g.28141814G>ACA489235069HERC2c.11733C>T (p.Asp3911=)
c.3444C>T (p.Asp1148=)
n.248C>T
c.11619C>T (p.Asp3873=)
c.11718C>T (p.Asp3906=)
c.11475C>T (p.Asp3825=)
c.11250C>T (p.Asp3750=)
c.9249C>T (p.Asp3083=)
c.8478C>T (p.Asp2826=)
c.5850C>T (p.Asp1950=)
c.4899C>T (p.Asp1633=)
 gnomAD v4
15g.28141814G>CCA391381990HERC2c.11733C>G (p.Asp3911Glu)
c.3444C>G (p.Asp1148Glu)
n.248C>G
c.11619C>G (p.Asp3873Glu)
c.11718C>G (p.Asp3906Glu)
c.11475C>G (p.Asp3825Glu)
c.11250C>G (p.Asp3750Glu)
c.9249C>G (p.Asp3083Glu)
c.8478C>G (p.Asp2826Glu)
c.5850C>G (p.Asp1950Glu)
c.4899C>G (p.Asp1633Glu)
15g.28141814G>TCA391381991HERC2c.11733C>A (p.Asp3911Glu)
c.3444C>A (p.Asp1148Glu)
n.248C>A
c.11619C>A (p.Asp3873Glu)
c.11718C>A (p.Asp3906Glu)
c.11475C>A (p.Asp3825Glu)
c.11250C>A (p.Asp3750Glu)
c.9249C>A (p.Asp3083Glu)
c.8478C>A (p.Asp2826Glu)
c.5850C>A (p.Asp1950Glu)
c.4899C>A (p.Asp1633Glu)
15g.28141815T>ACA391381992HERC2c.11732A>T (p.Asp3911Val)
c.3443A>T (p.Asp1148Val)
n.247A>T
c.11618A>T (p.Asp3873Val)
c.11717A>T (p.Asp3906Val)
c.11474A>T (p.Asp3825Val)
c.11249A>T (p.Asp3750Val)
c.9248A>T (p.Asp3083Val)
c.8477A>T (p.Asp2826Val)
c.5849A>T (p.Asp1950Val)
c.4898A>T (p.Asp1633Val)
15g.28141815T>CCA391381993HERC2c.11732A>G (p.Asp3911Gly)
c.3443A>G (p.Asp1148Gly)
n.247A>G
c.11618A>G (p.Asp3873Gly)
c.11717A>G (p.Asp3906Gly)
c.11474A>G (p.Asp3825Gly)
c.11249A>G (p.Asp3750Gly)
c.9248A>G (p.Asp3083Gly)
c.8477A>G (p.Asp2826Gly)
c.5849A>G (p.Asp1950Gly)
c.4898A>G (p.Asp1633Gly)
15g.28141815T>GCA391381994HERC2c.11732A>C (p.Asp3911Ala)
c.3443A>C (p.Asp1148Ala)
n.247A>C
c.11618A>C (p.Asp3873Ala)
c.11717A>C (p.Asp3906Ala)
c.11474A>C (p.Asp3825Ala)
c.11249A>C (p.Asp3750Ala)
c.9248A>C (p.Asp3083Ala)
c.8477A>C (p.Asp2826Ala)
c.5849A>C (p.Asp1950Ala)
c.4898A>C (p.Asp1633Ala)
 gnomAD v4
15g.28141816C>ACA391381995HERC2c.11731G>T (p.Asp3911Tyr)
c.3442G>T (p.Asp1148Tyr)
n.246G>T
c.11617G>T (p.Asp3873Tyr)
c.11716G>T (p.Asp3906Tyr)
c.11473G>T (p.Asp3825Tyr)
c.11248G>T (p.Asp3750Tyr)
c.9247G>T (p.Asp3083Tyr)
c.8476G>T (p.Asp2826Tyr)
c.5848G>T (p.Asp1950Tyr)
c.4897G>T (p.Asp1633Tyr)
15g.28141816C>GCA391381996HERC2c.11731G>C (p.Asp3911His)
c.3442G>C (p.Asp1148His)
n.246G>C
c.11617G>C (p.Asp3873His)
c.11716G>C (p.Asp3906His)
c.11473G>C (p.Asp3825His)
c.11248G>C (p.Asp3750His)
c.9247G>C (p.Asp3083His)
c.8476G>C (p.Asp2826His)
c.5848G>C (p.Asp1950His)
c.4897G>C (p.Asp1633His)
15g.28141816C>TCA391381997HERC2c.11731G>A (p.Asp3911Asn)
c.3442G>A (p.Asp1148Asn)
n.246G>A
c.11617G>A (p.Asp3873Asn)
c.11716G>A (p.Asp3906Asn)
c.11473G>A (p.Asp3825Asn)
c.11248G>A (p.Asp3750Asn)
c.9247G>A (p.Asp3083Asn)
c.8476G>A (p.Asp2826Asn)
c.5848G>A (p.Asp1950Asn)
c.4897G>A (p.Asp1633Asn)
 gnomAD v4
15g.28141817T>ACA489235072HERC2c.11730A>T (p.Ala3910=)
c.3441A>T (p.Ala1147=)
n.245A>T
c.11616A>T (p.Ala3872=)
c.11715A>T (p.Ala3905=)
c.11472A>T (p.Ala3824=)
c.11247A>T (p.Ala3749=)
c.9246A>T (p.Ala3082=)
c.8475A>T (p.Ala2825=)
c.5847A>T (p.Ala1949=)
c.4896A>T (p.Ala1632=)
15g.28141817T>CCA489235073HERC2c.11730A>G (p.Ala3910=)
c.3441A>G (p.Ala1147=)
n.245A>G
c.11616A>G (p.Ala3872=)
c.11715A>G (p.Ala3905=)
c.11472A>G (p.Ala3824=)
c.11247A>G (p.Ala3749=)
c.9246A>G (p.Ala3082=)
c.8475A>G (p.Ala2825=)
c.5847A>G (p.Ala1949=)
c.4896A>G (p.Ala1632=)
 gnomAD v4
15g.28141817T>GCA489235075HERC2c.11730A>C (p.Ala3910=)
c.3441A>C (p.Ala1147=)
n.245A>C
c.11616A>C (p.Ala3872=)
c.11715A>C (p.Ala3905=)
c.11472A>C (p.Ala3824=)
c.11247A>C (p.Ala3749=)
c.9246A>C (p.Ala3082=)
c.8475A>C (p.Ala2825=)
c.5847A>C (p.Ala1949=)
c.4896A>C (p.Ala1632=)
15g.28141818G>ACA391381998HERC2c.11729C>T (p.Ala3910Val)
c.3440C>T (p.Ala1147Val)
n.244C>T
c.11615C>T (p.Ala3872Val)
c.11714C>T (p.Ala3905Val)
c.11471C>T (p.Ala3824Val)
c.11246C>T (p.Ala3749Val)
c.9245C>T (p.Ala3082Val)
c.8474C>T (p.Ala2825Val)
c.5846C>T (p.Ala1949Val)
c.4895C>T (p.Ala1632Val)
 dbSNP gnomAD v2 gnomAD v4
15g.28141818G>CCA391381999HERC2c.11729C>G (p.Ala3910Gly)
c.3440C>G (p.Ala1147Gly)
n.244C>G
c.11615C>G (p.Ala3872Gly)
c.11714C>G (p.Ala3905Gly)
c.11471C>G (p.Ala3824Gly)
c.11246C>G (p.Ala3749Gly)
c.9245C>G (p.Ala3082Gly)
c.8474C>G (p.Ala2825Gly)
c.5846C>G (p.Ala1949Gly)
c.4895C>G (p.Ala1632Gly)
15g.28141818G=CA2166480111HERC2c.11729C= (p.Ala3910=)
c.3440C= (p.Ala1147=)
n.244C=
c.11615C= (p.Ala3872=)
c.11714C= (p.Ala3905=)
c.11471C= (p.Ala3824=)
c.11246C= (p.Ala3749=)
c.9245C= (p.Ala3082=)
c.8474C= (p.Ala2825=)
c.5846C= (p.Ala1949=)
c.4895C= (p.Ala1632=)
15g.28141818G>TCA391382000HERC2c.11729C>A (p.Ala3910Glu)
c.3440C>A (p.Ala1147Glu)
n.244C>A
c.11615C>A (p.Ala3872Glu)
c.11714C>A (p.Ala3905Glu)
c.11471C>A (p.Ala3824Glu)
c.11246C>A (p.Ala3749Glu)
c.9245C>A (p.Ala3082Glu)
c.8474C>A (p.Ala2825Glu)
c.5846C>A (p.Ala1949Glu)
c.4895C>A (p.Ala1632Glu)
15g.28141819C>ACA391382001HERC2c.11728G>T (p.Ala3910Ser)
c.3439G>T (p.Ala1147Ser)
n.243G>T
c.11614G>T (p.Ala3872Ser)
c.11713G>T (p.Ala3905Ser)
c.11470G>T (p.Ala3824Ser)
c.11245G>T (p.Ala3749Ser)
c.9244G>T (p.Ala3082Ser)
c.8473G>T (p.Ala2825Ser)
c.5845G>T (p.Ala1949Ser)
c.4894G>T (p.Ala1632Ser)
15g.28141819C=CA2166480112HERC2c.11728G= (p.Ala3910=)
c.3439G= (p.Ala1147=)
n.243G=
c.11614G= (p.Ala3872=)
c.11713G= (p.Ala3905=)
c.11470G= (p.Ala3824=)
c.11245G= (p.Ala3749=)
c.9244G= (p.Ala3082=)
c.8473G= (p.Ala2825=)
c.5845G= (p.Ala1949=)
c.4894G= (p.Ala1632=)
15g.28141819C>GCA7440479HERC2c.11728G>C (p.Ala3910Pro)
c.3439G>C (p.Ala1147Pro)
n.243G>C
c.11614G>C (p.Ala3872Pro)
c.11713G>C (p.Ala3905Pro)
c.11470G>C (p.Ala3824Pro)
c.11245G>C (p.Ala3749Pro)
c.9244G>C (p.Ala3082Pro)
c.8473G>C (p.Ala2825Pro)
c.5845G>C (p.Ala1949Pro)
c.4894G>C (p.Ala1632Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141819C>TCA391382002HERC2c.11728G>A (p.Ala3910Thr)
c.3439G>A (p.Ala1147Thr)
n.243G>A
c.11614G>A (p.Ala3872Thr)
c.11713G>A (p.Ala3905Thr)
c.11470G>A (p.Ala3824Thr)
c.11245G>A (p.Ala3749Thr)
c.9244G>A (p.Ala3082Thr)
c.8473G>A (p.Ala2825Thr)
c.5845G>A (p.Ala1949Thr)
c.4894G>A (p.Ala1632Thr)
15g.28141820C>ACA391382004HERC2c.11727G>T (p.Met3909Ile)
c.3438G>T (p.Met1146Ile)
n.242G>T
c.11613G>T (p.Met3871Ile)
c.11712G>T (p.Met3904Ile)
c.11469G>T (p.Met3823Ile)
c.11244G>T (p.Met3748Ile)
c.9243G>T (p.Met3081Ile)
c.8472G>T (p.Met2824Ile)
c.5844G>T (p.Met1948Ile)
c.4893G>T (p.Met1631Ile)
15g.28141820C>GCA391382005HERC2c.11727G>C (p.Met3909Ile)
c.3438G>C (p.Met1146Ile)
n.242G>C
c.11613G>C (p.Met3871Ile)
c.11712G>C (p.Met3904Ile)
c.11469G>C (p.Met3823Ile)
c.11244G>C (p.Met3748Ile)
c.9243G>C (p.Met3081Ile)
c.8472G>C (p.Met2824Ile)
c.5844G>C (p.Met1948Ile)
c.4893G>C (p.Met1631Ile)
15g.28141820C>TCA391382003HERC2c.11727G>A (p.Met3909Ile)
c.3438G>A (p.Met1146Ile)
n.242G>A
c.11613G>A (p.Met3871Ile)
c.11712G>A (p.Met3904Ile)
c.11469G>A (p.Met3823Ile)
c.11244G>A (p.Met3748Ile)
c.9243G>A (p.Met3081Ile)
c.8472G>A (p.Met2824Ile)
c.5844G>A (p.Met1948Ile)
c.4893G>A (p.Met1631Ile)
15g.28141821A=CA2166480113HERC2c.11726T= (p.Met3909=)
c.3437T= (p.Met1146=)
n.241T=
c.11612T= (p.Met3871=)
c.11711T= (p.Met3904=)
c.11468T= (p.Met3823=)
c.11243T= (p.Met3748=)
c.9242T= (p.Met3081=)
c.8471T= (p.Met2824=)
c.5843T= (p.Met1948=)
c.4892T= (p.Met1631=)
15g.28141821A>CCA391382006HERC2c.11726T>G (p.Met3909Arg)
c.3437T>G (p.Met1146Arg)
n.241T>G
c.11612T>G (p.Met3871Arg)
c.11711T>G (p.Met3904Arg)
c.11468T>G (p.Met3823Arg)
c.11243T>G (p.Met3748Arg)
c.9242T>G (p.Met3081Arg)
c.8471T>G (p.Met2824Arg)
c.5843T>G (p.Met1948Arg)
c.4892T>G (p.Met1631Arg)
15g.28141821A>GCA7440480HERC2c.11726T>C (p.Met3909Thr)
c.3437T>C (p.Met1146Thr)
n.241T>C
c.11612T>C (p.Met3871Thr)
c.11711T>C (p.Met3904Thr)
c.11468T>C (p.Met3823Thr)
c.11243T>C (p.Met3748Thr)
c.9242T>C (p.Met3081Thr)
c.8471T>C (p.Met2824Thr)
c.5843T>C (p.Met1948Thr)
c.4892T>C (p.Met1631Thr)
 dbSNP ExAC gnomAD v2
15g.28141821A>TCA391382007HERC2c.11726T>A (p.Met3909Lys)
c.3437T>A (p.Met1146Lys)
n.241T>A
c.11612T>A (p.Met3871Lys)
c.11711T>A (p.Met3904Lys)
c.11468T>A (p.Met3823Lys)
c.11243T>A (p.Met3748Lys)
c.9242T>A (p.Met3081Lys)
c.8471T>A (p.Met2824Lys)
c.5843T>A (p.Met1948Lys)
c.4892T>A (p.Met1631Lys)
15g.28141822T>ACA391382008HERC2c.11725A>T (p.Met3909Leu)
c.3436A>T (p.Met1146Leu)
n.240A>T
c.11611A>T (p.Met3871Leu)
c.11710A>T (p.Met3904Leu)
c.11467A>T (p.Met3823Leu)
c.11242A>T (p.Met3748Leu)
c.9241A>T (p.Met3081Leu)
c.8470A>T (p.Met2824Leu)
c.5842A>T (p.Met1948Leu)
c.4891A>T (p.Met1631Leu)
15g.28141822T>CCA391382009HERC2c.11725A>G (p.Met3909Val)
c.3436A>G (p.Met1146Val)
n.240A>G
c.11611A>G (p.Met3871Val)
c.11710A>G (p.Met3904Val)
c.11467A>G (p.Met3823Val)
c.11242A>G (p.Met3748Val)
c.9241A>G (p.Met3081Val)
c.8470A>G (p.Met2824Val)
c.5842A>G (p.Met1948Val)
c.4891A>G (p.Met1631Val)
 gnomAD v4
15g.28141822T>GCA267946479HERC2c.11725A>C (p.Met3909Leu)
c.3436A>C (p.Met1146Leu)
n.240A>C
c.11611A>C (p.Met3871Leu)
c.11710A>C (p.Met3904Leu)
c.11467A>C (p.Met3823Leu)
c.11242A>C (p.Met3748Leu)
c.9241A>C (p.Met3081Leu)
c.8470A>C (p.Met2824Leu)
c.5842A>C (p.Met1948Leu)
c.4891A>C (p.Met1631Leu)
 dbSNP gnomAD v4
15g.28141822T=CA2166480114HERC2c.11725A= (p.Met3909=)
c.3436A= (p.Met1146=)
n.240A=
c.11611A= (p.Met3871=)
c.11710A= (p.Met3904=)
c.11467A= (p.Met3823=)
c.11242A= (p.Met3748=)
c.9241A= (p.Met3081=)
c.8470A= (p.Met2824=)
c.5842A= (p.Met1948=)
c.4891A= (p.Met1631=)
15g.28141823T>ACA391382010HERC2c.11724A>T (p.Leu3908Phe)
c.3435A>T (p.Leu1145Phe)
n.239A>T
c.11610A>T (p.Leu3870Phe)
c.11709A>T (p.Leu3903Phe)
c.11466A>T (p.Leu3822Phe)
c.11241A>T (p.Leu3747Phe)
c.9240A>T (p.Leu3080Phe)
c.8469A>T (p.Leu2823Phe)
c.5841A>T (p.Leu1947Phe)
c.4890A>T (p.Leu1630Phe)
15g.28141823T>CCA489235081HERC2c.11724A>G (p.Leu3908=)
c.3435A>G (p.Leu1145=)
n.239A>G
c.11610A>G (p.Leu3870=)
c.11709A>G (p.Leu3903=)
c.11466A>G (p.Leu3822=)
c.11241A>G (p.Leu3747=)
c.9240A>G (p.Leu3080=)
c.8469A>G (p.Leu2823=)
c.5841A>G (p.Leu1947=)
c.4890A>G (p.Leu1630=)
15g.28141823T>GCA391382011HERC2c.11724A>C (p.Leu3908Phe)
c.3435A>C (p.Leu1145Phe)
n.239A>C
c.11610A>C (p.Leu3870Phe)
c.11709A>C (p.Leu3903Phe)
c.11466A>C (p.Leu3822Phe)
c.11241A>C (p.Leu3747Phe)
c.9240A>C (p.Leu3080Phe)
c.8469A>C (p.Leu2823Phe)
c.5841A>C (p.Leu1947Phe)
c.4890A>C (p.Leu1630Phe)
15g.28141824A>CCA391382012HERC2c.11723T>G (p.Leu3908Ter)
c.3434T>G (p.Leu1145Ter)
n.238T>G
c.11609T>G (p.Leu3870Ter)
c.11708T>G (p.Leu3903Ter)
c.11465T>G (p.Leu3822Ter)
c.11240T>G (p.Leu3747Ter)
c.9239T>G (p.Leu3080Ter)
c.8468T>G (p.Leu2823Ter)
c.5840T>G (p.Leu1947Ter)
c.4889T>G (p.Leu1630Ter)
15g.28141824A>GCA391382013HERC2c.11723T>C (p.Leu3908Ser)
c.3434T>C (p.Leu1145Ser)
n.238T>C
c.11609T>C (p.Leu3870Ser)
c.11708T>C (p.Leu3903Ser)
c.11465T>C (p.Leu3822Ser)
c.11240T>C (p.Leu3747Ser)
c.9239T>C (p.Leu3080Ser)
c.8468T>C (p.Leu2823Ser)
c.5840T>C (p.Leu1947Ser)
c.4889T>C (p.Leu1630Ser)
15g.28141824A>TCA391382014HERC2c.11723T>A (p.Leu3908Ter)
c.3434T>A (p.Leu1145Ter)
n.238T>A
c.11609T>A (p.Leu3870Ter)
c.11708T>A (p.Leu3903Ter)
c.11465T>A (p.Leu3822Ter)
c.11240T>A (p.Leu3747Ter)
c.9239T>A (p.Leu3080Ter)
c.8468T>A (p.Leu2823Ter)
c.5840T>A (p.Leu1947Ter)
c.4889T>A (p.Leu1630Ter)
15g.28141825A>CCA391382015HERC2c.11722T>G (p.Leu3908Val)
c.3433T>G (p.Leu1145Val)
n.237T>G
c.11608T>G (p.Leu3870Val)
c.11707T>G (p.Leu3903Val)
c.11464T>G (p.Leu3822Val)
c.11239T>G (p.Leu3747Val)
c.9238T>G (p.Leu3080Val)
c.8467T>G (p.Leu2823Val)
c.5839T>G (p.Leu1947Val)
c.4888T>G (p.Leu1630Val)
15g.28141825A>GCA489235084HERC2c.11722T>C (p.Leu3908=)
c.3433T>C (p.Leu1145=)
n.237T>C
c.11608T>C (p.Leu3870=)
c.11707T>C (p.Leu3903=)
c.11464T>C (p.Leu3822=)
c.11239T>C (p.Leu3747=)
c.9238T>C (p.Leu3080=)
c.8467T>C (p.Leu2823=)
c.5839T>C (p.Leu1947=)
c.4888T>C (p.Leu1630=)
15g.28141825A>TCA391382016HERC2c.11722T>A (p.Leu3908Ile)
c.3433T>A (p.Leu1145Ile)
n.237T>A
c.11608T>A (p.Leu3870Ile)
c.11707T>A (p.Leu3903Ile)
c.11464T>A (p.Leu3822Ile)
c.11239T>A (p.Leu3747Ile)
c.9238T>A (p.Leu3080Ile)
c.8467T>A (p.Leu2823Ile)
c.5839T>A (p.Leu1947Ile)
c.4888T>A (p.Leu1630Ile)
15g.28141826T>ACA391382018HERC2c.11721A>T (p.Glu3907Asp)
c.3432A>T (p.Glu1144Asp)
n.236A>T
c.11607A>T (p.Glu3869Asp)
c.11706A>T (p.Glu3902Asp)
c.11463A>T (p.Glu3821Asp)
c.11238A>T (p.Glu3746Asp)
c.9237A>T (p.Glu3079Asp)
c.8466A>T (p.Glu2822Asp)
c.5838A>T (p.Glu1946Asp)
c.4887A>T (p.Glu1629Asp)
15g.28141826T>CCA489235085HERC2c.11721A>G (p.Glu3907=)
c.3432A>G (p.Glu1144=)
n.236A>G
c.11607A>G (p.Glu3869=)
c.11706A>G (p.Glu3902=)
c.11463A>G (p.Glu3821=)
c.11238A>G (p.Glu3746=)
c.9237A>G (p.Glu3079=)
c.8466A>G (p.Glu2822=)
c.5838A>G (p.Glu1946=)
c.4887A>G (p.Glu1629=)
15g.28141826T>GCA391382017HERC2c.11721A>C (p.Glu3907Asp)
c.3432A>C (p.Glu1144Asp)
n.236A>C
c.11607A>C (p.Glu3869Asp)
c.11706A>C (p.Glu3902Asp)
c.11463A>C (p.Glu3821Asp)
c.11238A>C (p.Glu3746Asp)
c.9237A>C (p.Glu3079Asp)
c.8466A>C (p.Glu2822Asp)
c.5838A>C (p.Glu1946Asp)
c.4887A>C (p.Glu1629Asp)
15g.28141827T>ACA391382019HERC2c.11720A>T (p.Glu3907Val)
c.3431A>T (p.Glu1144Val)
n.235A>T
c.11606A>T (p.Glu3869Val)
c.11705A>T (p.Glu3902Val)
c.11462A>T (p.Glu3821Val)
c.11237A>T (p.Glu3746Val)
c.9236A>T (p.Glu3079Val)
c.8465A>T (p.Glu2822Val)
c.5837A>T (p.Glu1946Val)
c.4886A>T (p.Glu1629Val)
15g.28141827T>CCA391382020HERC2c.11720A>G (p.Glu3907Gly)
c.3431A>G (p.Glu1144Gly)
n.235A>G
c.11606A>G (p.Glu3869Gly)
c.11705A>G (p.Glu3902Gly)
c.11462A>G (p.Glu3821Gly)
c.11237A>G (p.Glu3746Gly)
c.9236A>G (p.Glu3079Gly)
c.8465A>G (p.Glu2822Gly)
c.5837A>G (p.Glu1946Gly)
c.4886A>G (p.Glu1629Gly)
15g.28141827T>GCA391382021HERC2c.11720A>C (p.Glu3907Ala)
c.3431A>C (p.Glu1144Ala)
n.235A>C
c.11606A>C (p.Glu3869Ala)
c.11705A>C (p.Glu3902Ala)
c.11462A>C (p.Glu3821Ala)
c.11237A>C (p.Glu3746Ala)
c.9236A>C (p.Glu3079Ala)
c.8465A>C (p.Glu2822Ala)
c.5837A>C (p.Glu1946Ala)
c.4886A>C (p.Glu1629Ala)
15g.28141828C>ACA391382022HERC2c.11719G>T (p.Glu3907Ter)
c.3430G>T (p.Glu1144Ter)
n.234G>T
c.11605G>T (p.Glu3869Ter)
c.11704G>T (p.Glu3902Ter)
c.11461G>T (p.Glu3821Ter)
c.11236G>T (p.Glu3746Ter)
c.9235G>T (p.Glu3079Ter)
c.8464G>T (p.Glu2822Ter)
c.5836G>T (p.Glu1946Ter)
c.4885G>T (p.Glu1629Ter)
15g.28141828C=CA2166480115HERC2c.11719G= (p.Glu3907=)
c.3430G= (p.Glu1144=)
n.234G=
c.11605G= (p.Glu3869=)
c.11704G= (p.Glu3902=)
c.11461G= (p.Glu3821=)
c.11236G= (p.Glu3746=)
c.9235G= (p.Glu3079=)
c.8464G= (p.Glu2822=)
c.5836G= (p.Glu1946=)
c.4885G= (p.Glu1629=)
15g.28141828C>GCA391382023HERC2c.11719G>C (p.Glu3907Gln)
c.3430G>C (p.Glu1144Gln)
n.234G>C
c.11605G>C (p.Glu3869Gln)
c.11704G>C (p.Glu3902Gln)
c.11461G>C (p.Glu3821Gln)
c.11236G>C (p.Glu3746Gln)
c.9235G>C (p.Glu3079Gln)
c.8464G>C (p.Glu2822Gln)
c.5836G>C (p.Glu1946Gln)
c.4885G>C (p.Glu1629Gln)
15g.28141828C>TCA391382024HERC2c.11719G>A (p.Glu3907Lys)
c.3430G>A (p.Glu1144Lys)
n.234G>A
c.11605G>A (p.Glu3869Lys)
c.11704G>A (p.Glu3902Lys)
c.11461G>A (p.Glu3821Lys)
c.11236G>A (p.Glu3746Lys)
c.9235G>A (p.Glu3079Lys)
c.8464G>A (p.Glu2822Lys)
c.5836G>A (p.Glu1946Lys)
c.4885G>A (p.Glu1629Lys)
 dbSNP gnomAD v3 gnomAD v4
15g.28141829A>CCA489235089HERC2c.11718T>G (p.Arg3906=)
c.3429T>G (p.Arg1143=)
n.233T>G
c.11604T>G (p.Arg3868=)
c.11703T>G (p.Arg3901=)
c.11460T>G (p.Arg3820=)
c.11235T>G (p.Arg3745=)
c.9234T>G (p.Arg3078=)
c.8463T>G (p.Arg2821=)
c.5835T>G (p.Arg1945=)
c.4884T>G (p.Arg1628=)
15g.28141829A>GCA489235090HERC2c.11718T>C (p.Arg3906=)
c.3429T>C (p.Arg1143=)
n.233T>C
c.11604T>C (p.Arg3868=)
c.11703T>C (p.Arg3901=)
c.11460T>C (p.Arg3820=)
c.11235T>C (p.Arg3745=)
c.9234T>C (p.Arg3078=)
c.8463T>C (p.Arg2821=)
c.5835T>C (p.Arg1945=)
c.4884T>C (p.Arg1628=)
15g.28141829A>TCA489235091HERC2c.11718T>A (p.Arg3906=)
c.3429T>A (p.Arg1143=)
n.233T>A
c.11604T>A (p.Arg3868=)
c.11703T>A (p.Arg3901=)
c.11460T>A (p.Arg3820=)
c.11235T>A (p.Arg3745=)
c.9234T>A (p.Arg3078=)
c.8463T>A (p.Arg2821=)
c.5835T>A (p.Arg1945=)
c.4884T>A (p.Arg1628=)
15g.28141830C>ACA391382025HERC2c.11717G>T (p.Arg3906Leu)
c.3428G>T (p.Arg1143Leu)
n.232G>T
c.11603G>T (p.Arg3868Leu)
c.11702G>T (p.Arg3901Leu)
c.11459G>T (p.Arg3820Leu)
c.11234G>T (p.Arg3745Leu)
c.9233G>T (p.Arg3078Leu)
c.8462G>T (p.Arg2821Leu)
c.5834G>T (p.Arg1945Leu)
c.4883G>T (p.Arg1628Leu)
15g.28141830C=CA2166480116HERC2c.11717G= (p.Arg3906=)
c.3428G= (p.Arg1143=)
n.232G=
c.11603G= (p.Arg3868=)
c.11702G= (p.Arg3901=)
c.11459G= (p.Arg3820=)
c.11234G= (p.Arg3745=)
c.9233G= (p.Arg3078=)
c.8462G= (p.Arg2821=)
c.5834G= (p.Arg1945=)
c.4883G= (p.Arg1628=)
15g.28141830C>GCA391382026HERC2c.11717G>C (p.Arg3906Pro)
c.3428G>C (p.Arg1143Pro)
n.232G>C
c.11603G>C (p.Arg3868Pro)
c.11702G>C (p.Arg3901Pro)
c.11459G>C (p.Arg3820Pro)
c.11234G>C (p.Arg3745Pro)
c.9233G>C (p.Arg3078Pro)
c.8462G>C (p.Arg2821Pro)
c.5834G>C (p.Arg1945Pro)
c.4883G>C (p.Arg1628Pro)
15g.28141830C>TCA7440481HERC2c.11717G>A (p.Arg3906His)
c.3428G>A (p.Arg1143His)
n.232G>A
c.11603G>A (p.Arg3868His)
c.11702G>A (p.Arg3901His)
c.11459G>A (p.Arg3820His)
c.11234G>A (p.Arg3745His)
c.9233G>A (p.Arg3078His)
c.8462G>A (p.Arg2821His)
c.5834G>A (p.Arg1945His)
c.4883G>A (p.Arg1628His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141831G>ACA7440483HERC2c.11716C>T (p.Arg3906Cys)
c.3427C>T (p.Arg1143Cys)
n.231C>T
c.11602C>T (p.Arg3868Cys)
c.11701C>T (p.Arg3901Cys)
c.11458C>T (p.Arg3820Cys)
c.11233C>T (p.Arg3745Cys)
c.9232C>T (p.Arg3078Cys)
c.8461C>T (p.Arg2821Cys)
c.5833C>T (p.Arg1945Cys)
c.4882C>T (p.Arg1628Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.28141831G>CCA7440482HERC2c.11716C>G (p.Arg3906Gly)
c.3427C>G (p.Arg1143Gly)
n.231C>G
c.11602C>G (p.Arg3868Gly)
c.11701C>G (p.Arg3901Gly)
c.11458C>G (p.Arg3820Gly)
c.11233C>G (p.Arg3745Gly)
c.9232C>G (p.Arg3078Gly)
c.8461C>G (p.Arg2821Gly)
c.5833C>G (p.Arg1945Gly)
c.4882C>G (p.Arg1628Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141831G=CA2166480117HERC2c.11716C= (p.Arg3906=)
c.3427C= (p.Arg1143=)
n.231C=
c.11602C= (p.Arg3868=)
c.11701C= (p.Arg3901=)
c.11458C= (p.Arg3820=)
c.11233C= (p.Arg3745=)
c.9232C= (p.Arg3078=)
c.8461C= (p.Arg2821=)
c.5833C= (p.Arg1945=)
c.4882C= (p.Arg1628=)
15g.28141831G>TCA391382027HERC2c.11716C>A (p.Arg3906Ser)
c.3427C>A (p.Arg1143Ser)
n.231C>A
c.11602C>A (p.Arg3868Ser)
c.11701C>A (p.Arg3901Ser)
c.11458C>A (p.Arg3820Ser)
c.11233C>A (p.Arg3745Ser)
c.9232C>A (p.Arg3078Ser)
c.8461C>A (p.Arg2821Ser)
c.5833C>A (p.Arg1945Ser)
c.4882C>A (p.Arg1628Ser)
15g.28141832A>CCA391382028HERC2c.11715T>G (p.Ile3905Met)
c.3426T>G (p.Ile1142Met)
n.230T>G
c.11601T>G (p.Ile3867Met)
c.11700T>G (p.Ile3900Met)
c.11457T>G (p.Ile3819Met)
c.11232T>G (p.Ile3744Met)
c.9231T>G (p.Ile3077Met)
c.8460T>G (p.Ile2820Met)
c.5832T>G (p.Ile1944Met)
c.4881T>G (p.Ile1627Met)
15g.28141832A>GCA489235093HERC2c.11715T>C (p.Ile3905=)
c.3426T>C (p.Ile1142=)
n.230T>C
c.11601T>C (p.Ile3867=)
c.11700T>C (p.Ile3900=)
c.11457T>C (p.Ile3819=)
c.11232T>C (p.Ile3744=)
c.9231T>C (p.Ile3077=)
c.8460T>C (p.Ile2820=)
c.5832T>C (p.Ile1944=)
c.4881T>C (p.Ile1627=)
15g.28141832A>TCA489235094HERC2c.11715T>A (p.Ile3905=)
c.3426T>A (p.Ile1142=)
n.230T>A
c.11601T>A (p.Ile3867=)
c.11700T>A (p.Ile3900=)
c.11457T>A (p.Ile3819=)
c.11232T>A (p.Ile3744=)
c.9231T>A (p.Ile3077=)
c.8460T>A (p.Ile2820=)
c.5832T>A (p.Ile1944=)
c.4881T>A (p.Ile1627=)
15g.28141833A=CA2166480118HERC2c.11714T= (p.Ile3905=)
c.3425T= (p.Ile1142=)
n.229T=
c.11600T= (p.Ile3867=)
c.11699T= (p.Ile3900=)
c.11456T= (p.Ile3819=)
c.11231T= (p.Ile3744=)
c.9230T= (p.Ile3077=)
c.8459T= (p.Ile2820=)
c.5831T= (p.Ile1944=)
c.4880T= (p.Ile1627=)
15g.28141833A>CCA391382029HERC2c.11714T>G (p.Ile3905Ser)
c.3425T>G (p.Ile1142Ser)
n.229T>G
c.11600T>G (p.Ile3867Ser)
c.11699T>G (p.Ile3900Ser)
c.11456T>G (p.Ile3819Ser)
c.11231T>G (p.Ile3744Ser)
c.9230T>G (p.Ile3077Ser)
c.8459T>G (p.Ile2820Ser)
c.5831T>G (p.Ile1944Ser)
c.4880T>G (p.Ile1627Ser)
 dbSNP gnomAD v2
15g.28141833A>GCA391382031HERC2c.11714T>C (p.Ile3905Thr)
c.3425T>C (p.Ile1142Thr)
n.229T>C
c.11600T>C (p.Ile3867Thr)
c.11699T>C (p.Ile3900Thr)
c.11456T>C (p.Ile3819Thr)
c.11231T>C (p.Ile3744Thr)
c.9230T>C (p.Ile3077Thr)
c.8459T>C (p.Ile2820Thr)
c.5831T>C (p.Ile1944Thr)
c.4880T>C (p.Ile1627Thr)
15g.28141833A>TCA391382030HERC2c.11714T>A (p.Ile3905Asn)
c.3425T>A (p.Ile1142Asn)
n.229T>A
c.11600T>A (p.Ile3867Asn)
c.11699T>A (p.Ile3900Asn)
c.11456T>A (p.Ile3819Asn)
c.11231T>A (p.Ile3744Asn)
c.9230T>A (p.Ile3077Asn)
c.8459T>A (p.Ile2820Asn)
c.5831T>A (p.Ile1944Asn)
c.4880T>A (p.Ile1627Asn)
15g.28141834T>ACA391382032HERC2c.11713A>T (p.Ile3905Phe)
c.3424A>T (p.Ile1142Phe)
n.228A>T
c.11599A>T (p.Ile3867Phe)
c.11698A>T (p.Ile3900Phe)
c.11455A>T (p.Ile3819Phe)
c.11230A>T (p.Ile3744Phe)
c.9229A>T (p.Ile3077Phe)
c.8458A>T (p.Ile2820Phe)
c.5830A>T (p.Ile1944Phe)
c.4879A>T (p.Ile1627Phe)
15g.28141834T>CCA391382033HERC2c.11713A>G (p.Ile3905Val)
c.3424A>G (p.Ile1142Val)
n.228A>G
c.11599A>G (p.Ile3867Val)
c.11698A>G (p.Ile3900Val)
c.11455A>G (p.Ile3819Val)
c.11230A>G (p.Ile3744Val)
c.9229A>G (p.Ile3077Val)
c.8458A>G (p.Ile2820Val)
c.5830A>G (p.Ile1944Val)
c.4879A>G (p.Ile1627Val)
15g.28141834T>GCA391382034HERC2c.11713A>C (p.Ile3905Leu)
c.3424A>C (p.Ile1142Leu)
n.228A>C
c.11599A>C (p.Ile3867Leu)
c.11698A>C (p.Ile3900Leu)
c.11455A>C (p.Ile3819Leu)
c.11230A>C (p.Ile3744Leu)
c.9229A>C (p.Ile3077Leu)
c.8458A>C (p.Ile2820Leu)
c.5830A>C (p.Ile1944Leu)
c.4879A>C (p.Ile1627Leu)
15g.28141835T>ACA391382035HERC2c.11712A>T (p.Lys3904Asn)
c.3423A>T (p.Lys1141Asn)
n.227A>T
c.11598A>T (p.Lys3866Asn)
c.11697A>T (p.Lys3899Asn)
c.11454A>T (p.Lys3818Asn)
c.11229A>T (p.Lys3743Asn)
c.9228A>T (p.Lys3076Asn)
c.8457A>T (p.Lys2819Asn)
c.5829A>T (p.Lys1943Asn)
c.4878A>T (p.Lys1626Asn)
15g.28141835T>CCA7440484HERC2c.11712A>G (p.Lys3904=)
c.3423A>G (p.Lys1141=)
n.227A>G
c.11598A>G (p.Lys3866=)
c.11697A>G (p.Lys3899=)
c.11454A>G (p.Lys3818=)
c.11229A>G (p.Lys3743=)
c.9228A>G (p.Lys3076=)
c.8457A>G (p.Lys2819=)
c.5829A>G (p.Lys1943=)
c.4878A>G (p.Lys1626=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141835T>GCA391382036HERC2c.11712A>C (p.Lys3904Asn)
c.3423A>C (p.Lys1141Asn)
n.227A>C
c.11598A>C (p.Lys3866Asn)
c.11697A>C (p.Lys3899Asn)
c.11454A>C (p.Lys3818Asn)
c.11229A>C (p.Lys3743Asn)
c.9228A>C (p.Lys3076Asn)
c.8457A>C (p.Lys2819Asn)
c.5829A>C (p.Lys1943Asn)
c.4878A>C (p.Lys1626Asn)
15g.28141835T=CA2166480119HERC2c.11712A= (p.Lys3904=)
c.3423A= (p.Lys1141=)
n.227A=
c.11598A= (p.Lys3866=)
c.11697A= (p.Lys3899=)
c.11454A= (p.Lys3818=)
c.11229A= (p.Lys3743=)
c.9228A= (p.Lys3076=)
c.8457A= (p.Lys2819=)
c.5829A= (p.Lys1943=)
c.4878A= (p.Lys1626=)
15g.28141836T>ACA391382039HERC2c.11711A>T (p.Lys3904Ile)
c.3422A>T (p.Lys1141Ile)
n.226A>T
c.11597A>T (p.Lys3866Ile)
c.11696A>T (p.Lys3899Ile)
c.11453A>T (p.Lys3818Ile)
c.11228A>T (p.Lys3743Ile)
c.9227A>T (p.Lys3076Ile)
c.8456A>T (p.Lys2819Ile)
c.5828A>T (p.Lys1943Ile)
c.4877A>T (p.Lys1626Ile)
15g.28141836T>CCA391382037HERC2c.11711A>G (p.Lys3904Arg)
c.3422A>G (p.Lys1141Arg)
n.226A>G
c.11597A>G (p.Lys3866Arg)
c.11696A>G (p.Lys3899Arg)
c.11453A>G (p.Lys3818Arg)
c.11228A>G (p.Lys3743Arg)
c.9227A>G (p.Lys3076Arg)
c.8456A>G (p.Lys2819Arg)
c.5828A>G (p.Lys1943Arg)
c.4877A>G (p.Lys1626Arg)
15g.28141836T>GCA391382038HERC2c.11711A>C (p.Lys3904Thr)
c.3422A>C (p.Lys1141Thr)
n.226A>C
c.11597A>C (p.Lys3866Thr)
c.11696A>C (p.Lys3899Thr)
c.11453A>C (p.Lys3818Thr)
c.11228A>C (p.Lys3743Thr)
c.9227A>C (p.Lys3076Thr)
c.8456A>C (p.Lys2819Thr)
c.5828A>C (p.Lys1943Thr)
c.4877A>C (p.Lys1626Thr)
15g.28141837T>ACA391382040HERC2c.11710A>T (p.Lys3904Ter)
c.3421A>T (p.Lys1141Ter)
n.225A>T
c.11596A>T (p.Lys3866Ter)
c.11695A>T (p.Lys3899Ter)
c.11452A>T (p.Lys3818Ter)
c.11227A>T (p.Lys3743Ter)
c.9226A>T (p.Lys3076Ter)
c.8455A>T (p.Lys2819Ter)
c.5827A>T (p.Lys1943Ter)
c.4876A>T (p.Lys1626Ter)
15g.28141837T>CCA391382041HERC2c.11710A>G (p.Lys3904Glu)
c.3421A>G (p.Lys1141Glu)
n.225A>G
c.11596A>G (p.Lys3866Glu)
c.11695A>G (p.Lys3899Glu)
c.11452A>G (p.Lys3818Glu)
c.11227A>G (p.Lys3743Glu)
c.9226A>G (p.Lys3076Glu)
c.8455A>G (p.Lys2819Glu)
c.5827A>G (p.Lys1943Glu)
c.4876A>G (p.Lys1626Glu)
15g.28141837T>GCA391382042HERC2c.11710A>C (p.Lys3904Gln)
c.3421A>C (p.Lys1141Gln)
n.225A>C
c.11596A>C (p.Lys3866Gln)
c.11695A>C (p.Lys3899Gln)
c.11452A>C (p.Lys3818Gln)
c.11227A>C (p.Lys3743Gln)
c.9226A>C (p.Lys3076Gln)
c.8455A>C (p.Lys2819Gln)
c.5827A>C (p.Lys1943Gln)
c.4876A>C (p.Lys1626Gln)
 gnomAD v4
15g.28141838C>ACA391382043HERC2c.11709G>T (p.Lys3903Asn)
c.3420G>T (p.Lys1140Asn)
n.224G>T
c.11595G>T (p.Lys3865Asn)
c.11694G>T (p.Lys3898Asn)
c.11451G>T (p.Lys3817Asn)
c.11226G>T (p.Lys3742Asn)
c.9225G>T (p.Lys3075Asn)
c.8454G>T (p.Lys2818Asn)
c.5826G>T (p.Lys1942Asn)
c.4875G>T (p.Lys1625Asn)
15g.28141838C>GCA391382044HERC2c.11709G>C (p.Lys3903Asn)
c.3420G>C (p.Lys1140Asn)
n.224G>C
c.11595G>C (p.Lys3865Asn)
c.11694G>C (p.Lys3898Asn)
c.11451G>C (p.Lys3817Asn)
c.11226G>C (p.Lys3742Asn)
c.9225G>C (p.Lys3075Asn)
c.8454G>C (p.Lys2818Asn)
c.5826G>C (p.Lys1942Asn)
c.4875G>C (p.Lys1625Asn)
 gnomAD v4
15g.28141838C>TCA488962633HERC2c.11709G>A (p.Lys3903=)
c.3420G>A (p.Lys1140=)
n.224G>A
c.11595G>A (p.Lys3865=)
c.11694G>A (p.Lys3898=)
c.11451G>A (p.Lys3817=)
c.11226G>A (p.Lys3742=)
c.9225G>A (p.Lys3075=)
c.8454G>A (p.Lys2818=)
c.5826G>A (p.Lys1942=)
c.4875G>A (p.Lys1625=)
 gnomAD v4
15g.28141839T>ACA391382047HERC2c.11708A>T (p.Lys3903Met)
c.3419A>T (p.Lys1140Met)
n.223A>T
c.11594A>T (p.Lys3865Met)
c.11693A>T (p.Lys3898Met)
c.11450A>T (p.Lys3817Met)
c.11225A>T (p.Lys3742Met)
c.9224A>T (p.Lys3075Met)
c.8453A>T (p.Lys2818Met)
c.5825A>T (p.Lys1942Met)
c.4874A>T (p.Lys1625Met)
15g.28141839T>CCA391382045HERC2c.11708A>G (p.Lys3903Arg)
c.3419A>G (p.Lys1140Arg)
n.223A>G
c.11594A>G (p.Lys3865Arg)
c.11693A>G (p.Lys3898Arg)
c.11450A>G (p.Lys3817Arg)
c.11225A>G (p.Lys3742Arg)
c.9224A>G (p.Lys3075Arg)
c.8453A>G (p.Lys2818Arg)
c.5825A>G (p.Lys1942Arg)
c.4874A>G (p.Lys1625Arg)
15g.28141839T>GCA391382046HERC2c.11708A>C (p.Lys3903Thr)
c.3419A>C (p.Lys1140Thr)
n.223A>C
c.11594A>C (p.Lys3865Thr)
c.11693A>C (p.Lys3898Thr)
c.11450A>C (p.Lys3817Thr)
c.11225A>C (p.Lys3742Thr)
c.9224A>C (p.Lys3075Thr)
c.8453A>C (p.Lys2818Thr)
c.5825A>C (p.Lys1942Thr)
c.4874A>C (p.Lys1625Thr)
15g.28141840T>ACA391382048HERC2c.11707A>T (p.Lys3903Ter)
c.3418A>T (p.Lys1140Ter)
n.222A>T
c.11593A>T (p.Lys3865Ter)
c.11692A>T (p.Lys3898Ter)
c.11449A>T (p.Lys3817Ter)
c.11224A>T (p.Lys3742Ter)
c.9223A>T (p.Lys3075Ter)
c.8452A>T (p.Lys2818Ter)
c.5824A>T (p.Lys1942Ter)
c.4873A>T (p.Lys1625Ter)
15g.28141840T>CCA391382049HERC2c.11707A>G (p.Lys3903Glu)
c.3418A>G (p.Lys1140Glu)
n.222A>G
c.11593A>G (p.Lys3865Glu)
c.11692A>G (p.Lys3898Glu)
c.11449A>G (p.Lys3817Glu)
c.11224A>G (p.Lys3742Glu)
c.9223A>G (p.Lys3075Glu)
c.8452A>G (p.Lys2818Glu)
c.5824A>G (p.Lys1942Glu)
c.4873A>G (p.Lys1625Glu)
15g.28141840T>GCA391382050HERC2c.11707A>C (p.Lys3903Gln)
c.3418A>C (p.Lys1140Gln)
n.222A>C
c.11593A>C (p.Lys3865Gln)
c.11692A>C (p.Lys3898Gln)
c.11449A>C (p.Lys3817Gln)
c.11224A>C (p.Lys3742Gln)
c.9223A>C (p.Lys3075Gln)
c.8452A>C (p.Lys2818Gln)
c.5824A>C (p.Lys1942Gln)
c.4873A>C (p.Lys1625Gln)
15g.28141841A>CCA488962634HERC2c.11706T>G (p.Ala3902=)
c.3417T>G (p.Ala1139=)
n.221T>G
c.11592T>G (p.Ala3864=)
c.11691T>G (p.Ala3897=)
c.11448T>G (p.Ala3816=)
c.11223T>G (p.Ala3741=)
c.9222T>G (p.Ala3074=)
c.8451T>G (p.Ala2817=)
c.5823T>G (p.Ala1941=)
c.4872T>G (p.Ala1624=)
15g.28141841A>GCA488962635HERC2c.11706T>C (p.Ala3902=)
c.3417T>C (p.Ala1139=)
n.221T>C
c.11592T>C (p.Ala3864=)
c.11691T>C (p.Ala3897=)
c.11448T>C (p.Ala3816=)
c.11223T>C (p.Ala3741=)
c.9222T>C (p.Ala3074=)
c.8451T>C (p.Ala2817=)
c.5823T>C (p.Ala1941=)
c.4872T>C (p.Ala1624=)
 gnomAD v4
15g.28141841A>TCA488962636HERC2c.11706T>A (p.Ala3902=)
c.3417T>A (p.Ala1139=)
n.221T>A
c.11592T>A (p.Ala3864=)
c.11691T>A (p.Ala3897=)
c.11448T>A (p.Ala3816=)
c.11223T>A (p.Ala3741=)
c.9222T>A (p.Ala3074=)
c.8451T>A (p.Ala2817=)
c.5823T>A (p.Ala1941=)
c.4872T>A (p.Ala1624=)
 gnomAD v4
15g.28141842G>ACA7440485HERC2c.11705C>T (p.Ala3902Val)
c.3416C>T (p.Ala1139Val)
n.220C>T
c.11591C>T (p.Ala3864Val)
c.11690C>T (p.Ala3897Val)
c.11447C>T (p.Ala3816Val)
c.11222C>T (p.Ala3741Val)
c.9221C>T (p.Ala3074Val)
c.8450C>T (p.Ala2817Val)
c.5822C>T (p.Ala1941Val)
c.4871C>T (p.Ala1624Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141842G>CCA391382051HERC2c.11705C>G (p.Ala3902Gly)
c.3416C>G (p.Ala1139Gly)
n.220C>G
c.11591C>G (p.Ala3864Gly)
c.11690C>G (p.Ala3897Gly)
c.11447C>G (p.Ala3816Gly)
c.11222C>G (p.Ala3741Gly)
c.9221C>G (p.Ala3074Gly)
c.8450C>G (p.Ala2817Gly)
c.5822C>G (p.Ala1941Gly)
c.4871C>G (p.Ala1624Gly)
15g.28141842G=CA2166480120HERC2c.11705C= (p.Ala3902=)
c.3416C= (p.Ala1139=)
n.220C=
c.11591C= (p.Ala3864=)
c.11690C= (p.Ala3897=)
c.11447C= (p.Ala3816=)
c.11222C= (p.Ala3741=)
c.9221C= (p.Ala3074=)
c.8450C= (p.Ala2817=)
c.5822C= (p.Ala1941=)
c.4871C= (p.Ala1624=)
15g.28141842G>TCA391382052HERC2c.11705C>A (p.Ala3902Asp)
c.3416C>A (p.Ala1139Asp)
n.220C>A
c.11591C>A (p.Ala3864Asp)
c.11690C>A (p.Ala3897Asp)
c.11447C>A (p.Ala3816Asp)
c.11222C>A (p.Ala3741Asp)
c.9221C>A (p.Ala3074Asp)
c.8450C>A (p.Ala2817Asp)
c.5822C>A (p.Ala1941Asp)
c.4871C>A (p.Ala1624Asp)
15g.28141843C>ACA391382053HERC2c.11704G>T (p.Ala3902Ser)
c.3415G>T (p.Ala1139Ser)
n.219G>T
c.11590G>T (p.Ala3864Ser)
c.11689G>T (p.Ala3897Ser)
c.11446G>T (p.Ala3816Ser)
c.11221G>T (p.Ala3741Ser)
c.9220G>T (p.Ala3074Ser)
c.8449G>T (p.Ala2817Ser)
c.5821G>T (p.Ala1941Ser)
c.4870G>T (p.Ala1624Ser)
15g.28141843C>GCA391382054HERC2c.11704G>C (p.Ala3902Pro)
c.3415G>C (p.Ala1139Pro)
n.219G>C
c.11590G>C (p.Ala3864Pro)
c.11689G>C (p.Ala3897Pro)
c.11446G>C (p.Ala3816Pro)
c.11221G>C (p.Ala3741Pro)
c.9220G>C (p.Ala3074Pro)
c.8449G>C (p.Ala2817Pro)
c.5821G>C (p.Ala1941Pro)
c.4870G>C (p.Ala1624Pro)
15g.28141843C>TCA391382055HERC2c.11704G>A (p.Ala3902Thr)
c.3415G>A (p.Ala1139Thr)
n.219G>A
c.11590G>A (p.Ala3864Thr)
c.11689G>A (p.Ala3897Thr)
c.11446G>A (p.Ala3816Thr)
c.11221G>A (p.Ala3741Thr)
c.9220G>A (p.Ala3074Thr)
c.8449G>A (p.Ala2817Thr)
c.5821G>A (p.Ala1941Thr)
c.4870G>A (p.Ala1624Thr)
15g.28141844C>ACA488962637HERC2c.11703G>T (p.Val3901=)
c.3414G>T (p.Val1138=)
n.218G>T
c.11589G>T (p.Val3863=)
c.11688G>T (p.Val3896=)
c.11445G>T (p.Val3815=)
c.11220G>T (p.Val3740=)
c.9219G>T (p.Val3073=)
c.8448G>T (p.Val2816=)
c.5820G>T (p.Val1940=)
c.4869G>T (p.Val1623=)
15g.28141844C>GCA488962639HERC2c.11703G>C (p.Val3901=)
c.3414G>C (p.Val1138=)
n.218G>C
c.11589G>C (p.Val3863=)
c.11688G>C (p.Val3896=)
c.11445G>C (p.Val3815=)
c.11220G>C (p.Val3740=)
c.9219G>C (p.Val3073=)
c.8448G>C (p.Val2816=)
c.5820G>C (p.Val1940=)
c.4869G>C (p.Val1623=)
15g.28141844C>TCA488962638HERC2c.11703G>A (p.Val3901=)
c.3414G>A (p.Val1138=)
n.218G>A
c.11589G>A (p.Val3863=)
c.11688G>A (p.Val3896=)
c.11445G>A (p.Val3815=)
c.11220G>A (p.Val3740=)
c.9219G>A (p.Val3073=)
c.8448G>A (p.Val2816=)
c.5820G>A (p.Val1940=)
c.4869G>A (p.Val1623=)
15g.28141845A>CCA391382056HERC2c.11702T>G (p.Val3901Gly)
c.3413T>G (p.Val1138Gly)
n.217T>G
c.11588T>G (p.Val3863Gly)
c.11687T>G (p.Val3896Gly)
c.11444T>G (p.Val3815Gly)
c.11219T>G (p.Val3740Gly)
c.9218T>G (p.Val3073Gly)
c.8447T>G (p.Val2816Gly)
c.5819T>G (p.Val1940Gly)
c.4868T>G (p.Val1623Gly)
15g.28141845A>GCA391382057HERC2c.11702T>C (p.Val3901Ala)
c.3413T>C (p.Val1138Ala)
n.217T>C
c.11588T>C (p.Val3863Ala)
c.11687T>C (p.Val3896Ala)
c.11444T>C (p.Val3815Ala)
c.11219T>C (p.Val3740Ala)
c.9218T>C (p.Val3073Ala)
c.8447T>C (p.Val2816Ala)
c.5819T>C (p.Val1940Ala)
c.4868T>C (p.Val1623Ala)
15g.28141845A>TCA391382058HERC2c.11702T>A (p.Val3901Glu)
c.3413T>A (p.Val1138Glu)
n.217T>A
c.11588T>A (p.Val3863Glu)
c.11687T>A (p.Val3896Glu)
c.11444T>A (p.Val3815Glu)
c.11219T>A (p.Val3740Glu)
c.9218T>A (p.Val3073Glu)
c.8447T>A (p.Val2816Glu)
c.5819T>A (p.Val1940Glu)
c.4868T>A (p.Val1623Glu)

Number of alleles fetched