Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222232268G>ACA351112906PAX3c.602C>T (p.Ser201Leu)
n.416C>T
c.599C>T (p.Ser200Leu)
c.746C>T (p.Ser249Leu)
c.38C>T (p.Ser13Leu)
n.287+10298G>A
2g.222232268G>CCA16604154PAX3c.602C>G (p.Ser201Ter)
n.416C>G
c.599C>G (p.Ser200Ter)
c.746C>G (p.Ser249Ter)
c.38C>G (p.Ser13Ter)
n.287+10298G>C
 ClinVar dbSNP
2g.222232268G=CA1330516267PAX3c.602C= (p.Ser201=)
n.416C=
c.599C= (p.Ser200=)
c.746C= (p.Ser249=)
c.38C= (p.Ser13=)
n.287+10298G=
2g.222232268G>TCA351112907PAX3c.602C>A (p.Ser201Ter)
n.416C>A
c.599C>A (p.Ser200Ter)
c.746C>A (p.Ser249Ter)
c.38C>A (p.Ser13Ter)
n.287+10298G>T
 ClinVar
2g.222232269_222232273delCA645509041PAX3c.598_602del (p.Gln200ArgfsTer2)
n.412_416del
c.595_599del (p.Gln199ArgfsTer2)
c.742_746del (p.Gln248ArgfsTer2)
c.34_38del (p.Gln12ArgfsTer2)
n.287+10299_287+10303del
2g.222232269A>CCA351112913PAX3c.601T>G (p.Ser201Ala)
n.415T>G
c.598T>G (p.Ser200Ala)
c.745T>G (p.Ser249Ala)
c.37T>G (p.Ser13Ala)
n.287+10299A>C
2g.222232269A>GCA351112910PAX3c.601T>C (p.Ser201Pro)
n.415T>C
c.598T>C (p.Ser200Pro)
c.745T>C (p.Ser249Pro)
c.37T>C (p.Ser13Pro)
n.287+10299A>G
2g.222232269A>TCA351112911PAX3c.601T>A (p.Ser201Thr)
n.415T>A
c.598T>A (p.Ser200Thr)
c.745T>A (p.Ser249Thr)
c.37T>A (p.Ser13Thr)
n.287+10299A>T
2g.222232270T>ACA351112915PAX3c.600A>T (p.Gln200His)
n.414A>T
c.597A>T (p.Gln199His)
c.744A>T (p.Gln248His)
c.36A>T (p.Gln12His)
n.287+10300T>A
2g.222232270T>CCA431575698PAX3c.600A>G (p.Gln200=)
n.414A>G
c.597A>G (p.Gln199=)
c.744A>G (p.Gln248=)
c.36A>G (p.Gln12=)
n.287+10300T>C
2g.222232270T>GCA351112916PAX3c.600A>C (p.Gln200His)
n.414A>C
c.597A>C (p.Gln199His)
c.744A>C (p.Gln248His)
c.36A>C (p.Gln12His)
n.287+10300T>G
2g.222232271T>ACA351112919PAX3c.599A>T (p.Gln200Leu)
n.413A>T
c.596A>T (p.Gln199Leu)
c.743A>T (p.Gln248Leu)
c.35A>T (p.Gln12Leu)
n.287+10301T>A
 gnomAD v4
2g.222232271T>CCA351112921PAX3c.599A>G (p.Gln200Arg)
n.413A>G
c.596A>G (p.Gln199Arg)
c.743A>G (p.Gln248Arg)
c.35A>G (p.Gln12Arg)
n.287+10301T>C
 dbSNP gnomAD v4
2g.222232271T>GCA351112922PAX3c.599A>C (p.Gln200Pro)
n.413A>C
c.596A>C (p.Gln199Pro)
c.743A>C (p.Gln248Pro)
c.35A>C (p.Gln12Pro)
n.287+10301T>G
 gnomAD v4
2g.222232272G>ACA351112925PAX3c.598C>T (p.Gln200Ter)
n.412C>T
c.595C>T (p.Gln199Ter)
c.742C>T (p.Gln248Ter)
c.34C>T (p.Gln12Ter)
n.287+10302G>A
2g.222232272G>CCA351112928PAX3c.598C>G (p.Gln200Glu)
n.412C>G
c.595C>G (p.Gln199Glu)
c.742C>G (p.Gln248Glu)
c.34C>G (p.Gln12Glu)
n.287+10302G>C
2g.222232272G=CA1330516268PAX3c.598C= (p.Gln200=)
n.412C=
c.595C= (p.Gln199=)
c.742C= (p.Gln248=)
c.34C= (p.Gln12=)
n.287+10302G=
2g.222232272G>TCA351112926PAX3c.598C>A (p.Gln200Lys)
n.412C>A
c.595C>A (p.Gln199Lys)
c.742C>A (p.Gln248Lys)
c.34C>A (p.Gln12Lys)
n.287+10302G>T
 dbSNP gnomAD v2 gnomAD v4
2g.222232273G>ACA431575699PAX3c.597C>T (p.Pro199=)
n.411C>T
c.594C>T (p.Pro198=)
c.741C>T (p.Pro247=)
c.33C>T (p.Pro11=)
n.287+10303G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.222232273G>CCA431575700PAX3c.597C>G (p.Pro199=)
n.411C>G
c.594C>G (p.Pro198=)
c.741C>G (p.Pro247=)
c.33C>G (p.Pro11=)
n.287+10303G>C
2g.222232273G=CA1330516269PAX3c.597C= (p.Pro199=)
n.411C=
c.594C= (p.Pro198=)
c.741C= (p.Pro247=)
c.33C= (p.Pro11=)
n.287+10303G=
2g.222232273G>TCA431575701PAX3c.597C>A (p.Pro199=)
n.411C>A
c.594C>A (p.Pro198=)
c.741C>A (p.Pro247=)
c.33C>A (p.Pro11=)
n.287+10303G>T
 COSMIC COSMIC
2g.222232274G>ACA351112930PAX3c.596C>T (p.Pro199Leu)
n.410C>T
c.593C>T (p.Pro198Leu)
c.740C>T (p.Pro247Leu)
c.32C>T (p.Pro11Leu)
n.287+10304G>A
 gnomAD v4
2g.222232274G>CCA2135610PAX3c.596C>G (p.Pro199Arg)
n.410C>G
c.593C>G (p.Pro198Arg)
c.740C>G (p.Pro247Arg)
c.32C>G (p.Pro11Arg)
n.287+10304G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232274G=CA1330516270PAX3c.596C= (p.Pro199=)
n.410C=
c.593C= (p.Pro198=)
c.740C= (p.Pro247=)
c.32C= (p.Pro11=)
n.287+10304G=
2g.222232274G>TCA351112932PAX3c.596C>A (p.Pro199His)
n.410C>A
c.593C>A (p.Pro198His)
c.740C>A (p.Pro247His)
c.32C>A (p.Pro11His)
n.287+10304G>T
2g.222232275G>ACA351112935PAX3c.595C>T (p.Pro199Ser)
n.409C>T
c.592C>T (p.Pro198Ser)
c.739C>T (p.Pro247Ser)
c.31C>T (p.Pro11Ser)
n.287+10305G>A
2g.222232275G>CCA351112936PAX3c.595C>G (p.Pro199Ala)
n.409C>G
c.592C>G (p.Pro198Ala)
c.739C>G (p.Pro247Ala)
c.31C>G (p.Pro11Ala)
n.287+10305G>C
2g.222232275G>TCA351112938PAX3c.595C>A (p.Pro199Thr)
n.409C>A
c.592C>A (p.Pro198Thr)
c.739C>A (p.Pro247Thr)
c.31C>A (p.Pro11Thr)
n.287+10305G>T
2g.222232276T>ACA431575702PAX3c.594A>T (p.Ala198=)
n.408A>T
c.591A>T (p.Ala197=)
c.738A>T (p.Ala246=)
c.30A>T (p.Ala10=)
n.287+10306T>A
 dbSNP gnomAD v3 gnomAD v4
2g.222232276T>CCA431575703PAX3c.594A>G (p.Ala198=)
n.408A>G
c.591A>G (p.Ala197=)
c.738A>G (p.Ala246=)
c.30A>G (p.Ala10=)
n.287+10306T>C
2g.222232276T>GCA431575704PAX3c.594A>C (p.Ala198=)
n.408A>C
c.591A>C (p.Ala197=)
c.738A>C (p.Ala246=)
c.30A>C (p.Ala10=)
n.287+10306T>G
2g.222232276T=CA1330516271PAX3c.594A= (p.Ala198=)
n.408A=
c.591A= (p.Ala197=)
c.738A= (p.Ala246=)
c.30A= (p.Ala10=)
n.287+10306T=
2g.222232277G>ACA351112939PAX3c.593C>T (p.Ala198Val)
n.407C>T
c.590C>T (p.Ala197Val)
c.737C>T (p.Ala246Val)
c.29C>T (p.Ala10Val)
n.287+10307G>A
2g.222232277G>CCA351112941PAX3c.593C>G (p.Ala198Gly)
n.407C>G
c.590C>G (p.Ala197Gly)
c.737C>G (p.Ala246Gly)
c.29C>G (p.Ala10Gly)
n.287+10307G>C
2g.222232277G>TCA351112943PAX3c.593C>A (p.Ala198Glu)
n.407C>A
c.590C>A (p.Ala197Glu)
c.737C>A (p.Ala246Glu)
c.29C>A (p.Ala10Glu)
n.287+10307G>T
 gnomAD v4
2g.222232277_222232283delCA2586971447PAX3c.587_593del (p.Ala196AspfsTer18)
n.401_407del
c.584_590del (p.Ala195AspfsTer18)
c.731_737del (p.Ala244AspfsTer18)
c.23_29del (p.Ala8AspfsTer18)
n.287+10307_287+10313del
2g.222232278delCA2586971448PAX3c.592del (p.Ala198HisfsTer18)
n.406del
c.589del (p.Ala197HisfsTer18)
c.736del (p.Ala246HisfsTer18)
c.28del (p.Ala10HisfsTer18)
n.287+10308del
2g.222232278C>ACA351112945PAX3c.592G>T (p.Ala198Ser)
n.406G>T
c.589G>T (p.Ala197Ser)
c.736G>T (p.Ala246Ser)
c.28G>T (p.Ala10Ser)
n.287+10308C>A
2g.222232278C>GCA351112947PAX3c.592G>C (p.Ala198Pro)
n.406G>C
c.589G>C (p.Ala197Pro)
c.736G>C (p.Ala246Pro)
c.28G>C (p.Ala10Pro)
n.287+10308C>G
2g.222232278C>TCA351112949PAX3c.592G>A (p.Ala198Thr)
n.406G>A
c.589G>A (p.Ala197Thr)
c.736G>A (p.Ala246Thr)
c.28G>A (p.Ala10Thr)
n.287+10308C>T
2g.222232279T>ACA431575705PAX3c.591A>T (p.Ser197=)
n.405A>T
c.588A>T (p.Ser196=)
c.735A>T (p.Ser245=)
c.27A>T (p.Ser9=)
n.287+10309T>A
 gnomAD v4
2g.222232279T>CCA2135611PAX3c.591A>G (p.Ser197=)
n.405A>G
c.588A>G (p.Ser196=)
c.735A>G (p.Ser245=)
c.27A>G (p.Ser9=)
n.287+10309T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232279T>GCA431575706PAX3c.591A>C (p.Ser197=)
n.405A>C
c.588A>C (p.Ser196=)
c.735A>C (p.Ser245=)
c.27A>C (p.Ser9=)
n.287+10309T>G
2g.222232279T=CA1330516272PAX3c.591A= (p.Ser197=)
n.405A=
c.588A= (p.Ser196=)
c.735A= (p.Ser245=)
c.27A= (p.Ser9=)
n.287+10309T=
2g.222232280G>ACA351112953PAX3c.590C>T (p.Ser197Leu)
n.404C>T
c.587C>T (p.Ser196Leu)
c.734C>T (p.Ser245Leu)
c.26C>T (p.Ser9Leu)
n.287+10310G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.222232280G>CCA351112951PAX3c.590C>G (p.Ser197Ter)
n.404C>G
c.587C>G (p.Ser196Ter)
c.734C>G (p.Ser245Ter)
c.26C>G (p.Ser9Ter)
n.287+10310G>C
2g.222232280G=CA1330516273PAX3c.590C= (p.Ser197=)
n.404C=
c.587C= (p.Ser196=)
c.734C= (p.Ser245=)
c.26C= (p.Ser9=)
n.287+10310G=
2g.222232280G>TCA351112954PAX3c.590C>A (p.Ser197Ter)
n.404C>A
c.587C>A (p.Ser196Ter)
c.734C>A (p.Ser245Ter)
c.26C>A (p.Ser9Ter)
n.287+10310G>T
2g.222232281delCA2586971449PAX3c.589del (p.Ser197GlnfsTer19)
n.403del
c.586del (p.Ser196GlnfsTer19)
c.733del (p.Ser245GlnfsTer19)
c.25del (p.Ser9GlnfsTer19)
n.287+10311del

Number of alleles fetched