Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222296916_222296964delCA2663324053PAX3c.321+14_321+62del (n.321+14_321+62del)
n.702+14_702+62del
c.465+14_465+62del (n.465+14_465+62del)
 gnomAD v4
2g.222296951C>ACA539497032PAX3c.321+27G>T (n.321+27G>T)
n.702+27G>T
c.465+27G>T (n.465+27G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222296951C=CA1330546464PAX3c.321+27G= (n.321+27G=)
n.702+27G=
c.465+27G= (n.465+27G=)
2g.222296952C>TCA2740372017PAX3c.321+26G>A (n.321+26G>A)
n.702+26G>A
c.465+26G>A (n.465+26G>A)
2g.222296952_222296961delinsCAGGAGGGCACA1330546465PAX3c.321+17_321+26delinsTGCCCTCCTG (n.321+17_321+26delinsTGCCCTCCTG)
n.702+17_702+26delinsTGCCCTCCTG
c.465+17_465+26delinsTGCCCTCCTG (n.465+17_465+26delinsTGCCCTCCTG)
2g.222296956_222296964delCA1330546466PAX3c.321+17_321+25del (n.321+17_321+25del)
n.702+17_702+25del
c.465+17_465+25del (n.465+17_465+25del)
 dbSNP
2g.222296954G=CA1330546467PAX3c.321+24C= (n.321+24C=)
n.702+24C=
c.465+24C= (n.465+24C=)
2g.222296954G>TCA2135777PAX3c.321+24C>A (n.321+24C>A)
n.702+24C>A
c.465+24C>A (n.465+24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222296955G>ACA2663324092PAX3c.321+23C>T (n.321+23C>T)
n.702+23C>T
c.465+23C>T (n.465+23C>T)
 gnomAD v4
2g.222296955G>CCA765250534PAX3c.321+23C>G (n.321+23C>G)
n.702+23C>G
c.465+23C>G (n.465+23C>G)
 dbSNP
2g.222296955G=CA1330546468PAX3c.321+23C= (n.321+23C=)
n.702+23C=
c.465+23C= (n.465+23C=)
2g.222296955G>TCA2663324093PAX3c.321+23C>A (n.321+23C>A)
n.702+23C>A
c.465+23C>A (n.465+23C>A)
 gnomAD v4
2g.222296956A>CCA2663324094PAX3c.321+22T>G (n.321+22T>G)
n.702+22T>G
c.465+22T>G (n.465+22T>G)
 gnomAD v4
2g.222296956A>GCA2663324095PAX3c.321+22T>C (n.321+22T>C)
n.702+22T>C
c.465+22T>C (n.465+22T>C)
 gnomAD v4
2g.222296957G>TCA2663324096PAX3c.321+21C>A (n.321+21C>A)
n.702+21C>A
c.465+21C>A (n.465+21C>A)
 gnomAD v4
2g.222296958G>CCA2135778PAX3c.321+20C>G (n.321+20C>G)
n.702+20C>G
c.465+20C>G (n.465+20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296958G=CA1330546469PAX3c.321+20C= (n.321+20C=)
n.702+20C=
c.465+20C= (n.465+20C=)
2g.222296958G>TCA2663324097PAX3c.321+20C>A (n.321+20C>A)
n.702+20C>A
c.465+20C>A (n.465+20C>A)
 gnomAD v4
2g.222296959G>ACA2663324098PAX3c.321+19C>T (n.321+19C>T)
n.702+19C>T
c.465+19C>T (n.465+19C>T)
 gnomAD v4
2g.222296959G=CA1330546470PAX3c.321+19C= (n.321+19C=)
n.702+19C=
c.465+19C= (n.465+19C=)
2g.222296959G>TCA1042702727PAX3c.321+19C>A (n.321+19C>A)
n.702+19C>A
c.465+19C>A (n.465+19C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.222296960C>TCA2663324099PAX3c.321+18G>A (n.321+18G>A)
n.702+18G>A
c.465+18G>A (n.465+18G>A)
 gnomAD v4
2g.222296961A=CA1330546471PAX3c.321+17T= (n.321+17T=)
n.702+17T=
c.465+17T= (n.465+17T=)
2g.222296961A>GCA765250539PAX3c.321+17T>C (n.321+17T>C)
n.702+17T>C
c.465+17T>C (n.465+17T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.222296963G>ACA2135779PAX3c.321+15C>T (n.321+15C>T)
n.702+15C>T
c.465+15C>T (n.465+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296963G=CA1330546472PAX3c.321+15C= (n.321+15C=)
n.702+15C=
c.465+15C= (n.465+15C=)
2g.222296964G>ACA2663324100PAX3c.321+14C>T (n.321+14C>T)
n.702+14C>T
c.465+14C>T (n.465+14C>T)
 gnomAD v4
2g.222296964_222296965delinsGCCA1330546473PAX3c.321+13_321+14delinsGC (n.321+13_321+14delinsGC)
n.702+13_702+14delinsGC
c.465+13_465+14delinsGC (n.465+13_465+14delinsGC)
2g.222296967delCA765250543PAX3c.321+13del (n.321+13del)
n.702+13del
c.465+13del (n.465+13del)
 dbSNP gnomAD v3 gnomAD v4
2g.222296966C=CA1330546474PAX3c.321+12G= (n.321+12G=)
n.702+12G=
c.465+12G= (n.465+12G=)
2g.222296966C>TCA539836905PAX3c.321+12G>A (n.321+12G>A)
n.702+12G>A
c.465+12G>A (n.465+12G>A)
 dbSNP gnomAD v2
2g.222296967C>ACA539836906PAX3c.321+11G>T (n.321+11G>T)
n.702+11G>T
c.465+11G>T (n.465+11G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222296967C=CA1330546475PAX3c.321+11G= (n.321+11G=)
n.702+11G=
c.465+11G= (n.465+11G=)
2g.222296967C>TCA2135780PAX3c.321+11G>A (n.321+11G>A)
n.702+11G>A
c.465+11G>A (n.465+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296968G>ACA2135782PAX3c.321+10C>T (n.321+10C>T)
n.702+10C>T
c.465+10C>T (n.465+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296968G=CA1330546476PAX3c.321+10C= (n.321+10C=)
n.702+10C=
c.465+10C= (n.465+10C=)
2g.222296968G>TCA2135781PAX3c.321+10C>A (n.321+10C>A)
n.702+10C>A
c.465+10C>A (n.465+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296969C=CA1330546477PAX3c.321+9G= (n.321+9G=)
n.702+9G=
c.465+9G= (n.465+9G=)
2g.222296969C>TCA2135783PAX3c.321+9G>A (n.321+9G>A)
n.702+9G>A
c.465+9G>A (n.465+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296970C>ACA2663324101PAX3c.321+8G>T (n.321+8G>T)
n.702+8G>T
c.465+8G>T (n.465+8G>T)
 gnomAD v4
2g.222296970C=CA1330546478PAX3c.321+8G= (n.321+8G=)
n.702+8G=
c.465+8G= (n.465+8G=)
2g.222296970C>GCA2663324102PAX3c.321+8G>C (n.321+8G>C)
n.702+8G>C
c.465+8G>C (n.465+8G>C)
 gnomAD v4
2g.222296970C>TCA2135784PAX3c.321+8G>A (n.321+8G>A)
n.702+8G>A
c.465+8G>A (n.465+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296971C=CA1330546479PAX3c.321+7G= (n.321+7G=)
n.702+7G=
c.465+7G= (n.465+7G=)
2g.222296971C>TCA66340690PAX3c.321+7G>A (n.321+7G>A)
n.702+7G>A
c.465+7G>A (n.465+7G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.222296972G>ACA539836907PAX3c.321+6C>T (n.321+6C>T)
n.702+6C>T
c.465+6C>T (n.465+6C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222296972G=CA1330546480PAX3c.321+6C= (n.321+6C=)
n.702+6C=
c.465+6C= (n.465+6C=)
2g.222296972G>TCA2135785PAX3c.321+6C>A (n.321+6C>A)
n.702+6C>A
c.465+6C>A (n.465+6C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296973C>TCA2663324103PAX3c.321+5G>A (n.321+5G>A)
n.702+5G>A
c.465+5G>A (n.465+5G>A)
 gnomAD v4
2g.222296975C=CA1330546481PAX3c.321+3G= (n.321+3G=)
n.702+3G=
c.465+3G= (n.465+3G=)
2g.222296975C>GCA539836908PAX3c.321+3G>C (n.321+3G>C)
n.702+3G>C
c.465+3G>C (n.465+3G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222296975C>TCA2135786PAX3c.321+3G>A (n.321+3G>A)
n.702+3G>A
c.465+3G>A (n.465+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222296976_222297003delCA2586971541PAX3c.297_321+3del
n.678_702+3del
c.441_465+3del
2g.222296976A>CCA351113337PAX3c.321+2T>G (n.321+2T>G)
n.702+2T>G
c.465+2T>G (n.465+2T>G)
2g.222296976A>GCA351113338PAX3c.321+2T>C (n.321+2T>C)
n.702+2T>C
c.465+2T>C (n.465+2T>C)
2g.222296976A>TCA351113339PAX3c.321+2T>A (n.321+2T>A)
n.702+2T>A
c.465+2T>A (n.465+2T>A)
2g.222296977C>ACA351113341PAX3c.321+1G>T (n.321+1G>T)
n.702+1G>T
c.465+1G>T (n.465+1G>T)
2g.222296977C>GCA351113342PAX3c.321+1G>C (n.321+1G>C)
n.702+1G>C
c.465+1G>C (n.465+1G>C)
2g.222296977C>TCA351113340PAX3c.321+1G>A (n.321+1G>A)
n.702+1G>A
c.465+1G>A (n.465+1G>A)
2g.222296978C>ACA351113343PAX3c.321G>T (p.Lys107Asn)
n.702G>T
c.465G>T (p.Lys155Asn)
 gnomAD v4
2g.222296978C>GCA351113344PAX3c.321G>C (p.Lys107Asn)
n.702G>C
c.465G>C (p.Lys155Asn)
2g.222296978C>TCA431575869PAX3c.321G>A (p.Lys107=)
n.702G>A
c.465G>A (p.Lys155=)
2g.222296979T>ACA351113345PAX3c.320A>T (p.Lys107Met)
n.701A>T
c.464A>T (p.Lys155Met)
2g.222296979T>CCA351113346PAX3c.320A>G (p.Lys107Arg)
n.701A>G
c.464A>G (p.Lys155Arg)
 gnomAD v4
2g.222296979T>GCA351113347PAX3c.320A>C (p.Lys107Thr)
n.701A>C
c.464A>C (p.Lys155Thr)
2g.222296980T>ACA351113349PAX3c.319A>T (p.Lys107Ter)
n.700A>T
c.463A>T (p.Lys155Ter)
2g.222296980T>CCA351113348PAX3c.319A>G (p.Lys107Glu)
n.700A>G
c.463A>G (p.Lys155Glu)
 gnomAD v4
2g.222296980T>GCA66340691PAX3c.319A>C (p.Lys107Gln)
n.700A>C
c.463A>C (p.Lys155Gln)
 dbSNP
2g.222296980T=CA1330546482PAX3c.319A= (p.Lys107=)
n.700A=
c.463A= (p.Lys155=)
2g.222296981G>ACA431575870PAX3c.318C>T (p.Pro106=)
n.699C>T
c.462C>T (p.Pro154=)
 gnomAD v4
2g.222296981G>CCA431575871PAX3c.318C>G (p.Pro106=)
n.699C>G
c.462C>G (p.Pro154=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222296981G=CA1330546483PAX3c.318C= (p.Pro106=)
n.699C=
c.462C= (p.Pro154=)
2g.222296981G>TCA431575872PAX3c.318C>A (p.Pro106=)
n.699C>A
c.462C>A (p.Pro154=)
2g.222296983delCA2586971542PAX3c.318del (p.Lys107SerfsTer3)
n.699del
c.318del (p.Lys107ArgfsTer2)
c.462del (p.Lys155SerfsTer3)
2g.222296982G>ACA351113350PAX3c.317C>T (p.Pro106Leu)
n.698C>T
c.461C>T (p.Pro154Leu)
2g.222296982G>CCA351113351PAX3c.317C>G (p.Pro106Arg)
n.698C>G
c.461C>G (p.Pro154Arg)
2g.222296982G>TCA351113352PAX3c.317C>A (p.Pro106His)
n.698C>A
c.461C>A (p.Pro154His)
2g.222296983G>ACA351113353PAX3c.316C>T (p.Pro106Ser)
n.697C>T
c.460C>T (p.Pro154Ser)
2g.222296983G>CCA2135787PAX3c.316C>G (p.Pro106Ala)
n.697C>G
c.460C>G (p.Pro154Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222296983G=CA1330546484PAX3c.316C= (p.Pro106=)
n.697C=
c.460C= (p.Pro154=)
2g.222296983G>TCA351113354PAX3c.316C>A (p.Pro106Thr)
n.697C>A
c.460C>A (p.Pro154Thr)
 dbSNP
2g.222296984C>ACA351113355PAX3c.315G>T (p.Lys105Asn)
n.696G>T
c.459G>T (p.Lys153Asn)
2g.222296984C>GCA351113356PAX3c.315G>C (p.Lys105Asn)
n.696G>C
c.459G>C (p.Lys153Asn)
2g.222296984C>TCA431575873PAX3c.315G>A (p.Lys105=)
n.696G>A
c.459G>A (p.Lys153=)
2g.222296985T>ACA351113357PAX3c.314A>T (p.Lys105Met)
n.695A>T
c.458A>T (p.Lys153Met)
2g.222296985T>CCA351113358PAX3c.314A>G (p.Lys105Arg)
n.695A>G
c.458A>G (p.Lys153Arg)
2g.222296985T>GCA351113359PAX3c.314A>C (p.Lys105Thr)
n.695A>C
c.458A>C (p.Lys153Thr)
2g.222296985T=CA1330546485PAX3c.314A= (p.Lys105=)
n.695A=
c.458A= (p.Lys153=)
2g.222296986T>ACA351113360PAX3c.313A>T (p.Lys105Ter)
n.694A>T
c.457A>T (p.Lys153Ter)
2g.222296986T>CCA351113361PAX3c.313A>G (p.Lys105Glu)
n.694A>G
c.457A>G (p.Lys153Glu)
2g.222296986T>GCA351113362PAX3c.313A>C (p.Lys105Gln)
n.694A>C
c.457A>C (p.Lys153Gln)
2g.222296989_222296991dupCA2135788PAX3c.311_313dup (p.Ser104_Lys105insSer)
n.692_694dup
c.455_457dup (p.Ser152_Lys153insSer)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222296987G>ACA431575874PAX3c.312C>T (p.Ser104=)
n.693C>T
c.456C>T (p.Ser152=)
2g.222296987G>CCA351113363PAX3c.312C>G (p.Ser104Arg)
n.693C>G
c.456C>G (p.Ser152Arg)
2g.222296987G>TCA351113364PAX3c.312C>A (p.Ser104Arg)
n.693C>A
c.456C>A (p.Ser152Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.222296988C>ACA351113365PAX3c.311G>T (p.Ser104Ile)
n.692G>T
c.455G>T (p.Ser152Ile)
2g.222296988C>GCA351113366PAX3c.311G>C (p.Ser104Thr)
n.692G>C
c.455G>C (p.Ser152Thr)
2g.222296988C>TCA351113367PAX3c.311G>A (p.Ser104Asn)
n.692G>A
c.455G>A (p.Ser152Asn)
2g.222296989T>ACA351113369PAX3c.310A>T (p.Ser104Cys)
n.691A>T
c.454A>T (p.Ser152Cys)
2g.222296989T>CCA351113370PAX3c.310A>G (p.Ser104Gly)
n.691A>G
c.454A>G (p.Ser152Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.222296989T>GCA351113368PAX3c.310A>C (p.Ser104Arg)
n.691A>C
c.454A>C (p.Ser152Arg)
2g.222296989T=CA1330546486PAX3c.310A= (p.Ser104=)
n.691A=
c.454A= (p.Ser152=)
2g.222296990G>ACA431575875PAX3c.309C>T (p.Gly103=)
n.690C>T
c.453C>T (p.Gly151=)
2g.222296990G>CCA431575876PAX3c.309C>G (p.Gly103=)
n.690C>G
c.453C>G (p.Gly151=)
2g.222296990G>TCA431575877PAX3c.309C>A (p.Gly103=)
n.690C>A
c.453C>A (p.Gly151=)
2g.222296991C>ACA351113371PAX3c.308G>T (p.Gly103Val)
n.689G>T
c.452G>T (p.Gly151Val)
2g.222296991C>GCA351113372PAX3c.308G>C (p.Gly103Ala)
n.689G>C
c.452G>C (p.Gly151Ala)
2g.222296991C>TCA351113373PAX3c.308G>A (p.Gly103Asp)
n.689G>A
c.452G>A (p.Gly151Asp)
2g.222296992C>ACA351113374PAX3c.307G>T (p.Gly103Cys)
n.688G>T
c.451G>T (p.Gly151Cys)
2g.222296992C=CA1330546487PAX3c.307G= (p.Gly103=)
n.688G=
c.451G= (p.Gly151=)
2g.222296992C>GCA351113375PAX3c.307G>C (p.Gly103Arg)
n.688G>C
c.451G>C (p.Gly151Arg)
2g.222296992C>TCA351113376PAX3c.307G>A (p.Gly103Ser)
n.688G>A
c.451G>A (p.Gly151Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.222296993G>ACA431575879PAX3c.306C>T (p.Gly102=)
n.687C>T
c.450C>T (p.Gly150=)
 gnomAD v4
2g.222296993G>CCA431575881PAX3c.306C>G (p.Gly102=)
n.687C>G
c.450C>G (p.Gly150=)
2g.222296993G=CA1330546488PAX3c.306C= (p.Gly102=)
n.687C=
c.450C= (p.Gly150=)
2g.222296993G>TCA431575882PAX3c.306C>A (p.Gly102=)
n.687C>A
c.450C>A (p.Gly150=)
 dbSNP gnomAD v4
2g.222296994C>ACA351113377PAX3c.305G>T (p.Gly102Val)
n.686G>T
c.449G>T (p.Gly150Val)
2g.222296994C>GCA351113379PAX3c.305G>C (p.Gly102Ala)
n.686G>C
c.449G>C (p.Gly150Ala)
2g.222296994C>TCA351113378PAX3c.305G>A (p.Gly102Asp)
n.686G>A
c.449G>A (p.Gly150Asp)
2g.222296995C>ACA351113380PAX3c.304G>T (p.Gly102Cys)
n.685G>T
c.448G>T (p.Gly150Cys)
2g.222296995C>GCA351113381PAX3c.304G>C (p.Gly102Arg)
n.685G>C
c.448G>C (p.Gly150Arg)
2g.222296995C>TCA351113382PAX3c.304G>A (p.Gly102Ser)
n.685G>A
c.448G>A (p.Gly150Ser)
 gnomAD v4
2g.222296996G>ACA431575883PAX3c.303C>T (p.Ile101=)
n.684C>T
c.447C>T (p.Ile149=)
 dbSNP gnomAD v2 gnomAD v4
2g.222296996G>CCA351113383PAX3c.303C>G (p.Ile101Met)
n.684C>G
c.447C>G (p.Ile149Met)
2g.222296996G=CA1330546489PAX3c.303C= (p.Ile101=)
n.684C=
c.447C= (p.Ile149=)
2g.222296996G>TCA431575884PAX3c.303C>A (p.Ile101=)
n.684C>A
c.447C>A (p.Ile149=)
 gnomAD v4
2g.222296997A>CCA351113384PAX3c.302T>G (p.Ile101Ser)
n.683T>G
c.446T>G (p.Ile149Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.222296997A>GCA351113386PAX3c.302T>C (p.Ile101Thr)
n.683T>C
c.446T>C (p.Ile149Thr)
2g.222296997A>TCA351113385PAX3c.302T>A (p.Ile101Asn)
n.683T>A
c.446T>A (p.Ile149Asn)
 gnomAD v4
2g.222296998_222297005delCA2580065794PAX3c.295_302del (p.Gly99ArgfsTer12)
n.676_683del
c.295_302del (p.Gly99ArgfsTer11)
c.439_446del (p.Gly147ArgfsTer12)
 ClinVar
2g.222296998T>ACA351113387PAX3c.301A>T (p.Ile101Phe)
n.682A>T
c.445A>T (p.Ile149Phe)
2g.222296998T>CCA351113388PAX3c.301A>G (p.Ile101Val)
n.682A>G
c.445A>G (p.Ile149Val)
2g.222296998T>GCA351113389PAX3c.301A>C (p.Ile101Leu)
n.682A>C
c.445A>C (p.Ile149Leu)
2g.222296999G>ACA431575885PAX3c.300C>T (p.Ala100=)
n.681C>T
c.444C>T (p.Ala148=)
2g.222296999G>CCA431575886PAX3c.300C>G (p.Ala100=)
n.681C>G
c.444C>G (p.Ala148=)
2g.222296999G>TCA431575887PAX3c.300C>A (p.Ala100=)
n.681C>A
c.444C>A (p.Ala148=)
2g.222297000G>ACA351113390PAX3c.299C>T (p.Ala100Val)
n.680C>T
c.443C>T (p.Ala148Val)
2g.222297000G>CCA351113391PAX3c.299C>G (p.Ala100Gly)
n.680C>G
c.443C>G (p.Ala148Gly)
2g.222297000G>TCA351113392PAX3c.299C>A (p.Ala100Asp)
n.680C>A
c.443C>A (p.Ala148Asp)
2g.222297001C>ACA351113393PAX3c.298G>T (p.Ala100Ser)
n.679G>T
c.442G>T (p.Ala148Ser)
2g.222297001C>GCA351113394PAX3c.298G>C (p.Ala100Pro)
n.679G>C
c.442G>C (p.Ala148Pro)
2g.222297001C>TCA351113395PAX3c.298G>A (p.Ala100Thr)
n.679G>A
c.442G>A (p.Ala148Thr)
2g.222297002A=CA1330546490PAX3c.297T= (p.Gly99=)
n.678T=
c.441T= (p.Gly147=)
2g.222297002A>CCA2135789PAX3c.297T>G (p.Gly99=)
n.678T>G
c.441T>G (p.Gly147=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222297002A>GCA431575888PAX3c.297T>C (p.Gly99=)
n.678T>C
c.441T>C (p.Gly147=)
2g.222297002A>TCA431575889PAX3c.297T>A (p.Gly99=)
n.678T>A
c.441T>A (p.Gly147=)
2g.222297003C>ACA351113396PAX3c.296G>T (p.Gly99Val)
n.677G>T
c.440G>T (p.Gly147Val)
2g.222297003C=CA1330546491PAX3c.296G= (p.Gly99=)
n.677G=
c.440G= (p.Gly147=)
2g.222297003C>GCA351113397PAX3c.296G>C (p.Gly99Ala)
n.677G>C
c.440G>C (p.Gly147Ala)
2g.222297003C>TCA351113398PAX3c.296G>A (p.Gly99Asp)
n.677G>A
c.440G>A (p.Gly147Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.222297004C>ACA351113401PAX3c.295G>T (p.Gly99Cys)
n.676G>T
c.439G>T (p.Gly147Cys)
 ClinVar
2g.222297004C=CA1330546492PAX3c.295G= (p.Gly99=)
n.676G=
c.439G= (p.Gly147=)
2g.222297004C>GCA351113400PAX3c.295G>C (p.Gly99Arg)
n.676G>C
c.439G>C (p.Gly147Arg)
2g.222297004C>TCA351113399PAX3c.295G>A (p.Gly99Ser)
n.676G>A
c.439G>A (p.Gly147Ser)
 dbSNP gnomAD v2
2g.222297005A=CA1330546493PAX3c.294T= (p.Pro98=)
n.675T=
c.438T= (p.Pro146=)
2g.222297005A>CCA431575890PAX3c.294T>G (p.Pro98=)
n.675T>G
c.438T>G (p.Pro146=)
2g.222297005A>GCA431575892PAX3c.294T>C (p.Pro98=)
n.675T>C
c.438T>C (p.Pro146=)
 dbSNP gnomAD v3 gnomAD v4
2g.222297005A>TCA431575891PAX3c.294T>A (p.Pro98=)
n.675T>A
c.438T>A (p.Pro146=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222297006G>ACA351113402PAX3c.293C>T (p.Pro98Leu)
n.674C>T
c.437C>T (p.Pro146Leu)
 ClinVar dbSNP
2g.222297006G>CCA351113403PAX3c.293C>G (p.Pro98Arg)
n.674C>G
c.437C>G (p.Pro146Arg)
2g.222297006G=CA1330546494PAX3c.293C= (p.Pro98=)
n.674C=
c.437C= (p.Pro146=)
2g.222297006G>TCA351113404PAX3c.293C>A (p.Pro98His)
n.674C>A
c.437C>A (p.Pro146His)
2g.222297007G>ACA351113405PAX3c.292C>T (p.Pro98Ser)
n.673C>T
c.436C>T (p.Pro146Ser)
2g.222297007G>CCA351113406PAX3c.292C>G (p.Pro98Ala)
n.673C>G
c.436C>G (p.Pro146Ala)
2g.222297007G>TCA351113407PAX3c.292C>A (p.Pro98Thr)
n.673C>A
c.436C>A (p.Pro146Thr)
2g.222297008A=CA1330546495PAX3c.291T= (p.Arg97=)
n.672T=
c.435T= (p.Arg145=)
2g.222297008A>CCA431575893PAX3c.291T>G (p.Arg97=)
n.672T>G
c.435T>G (p.Arg145=)
2g.222297008A>GCA431575894PAX3c.291T>C (p.Arg97=)
n.672T>C
c.435T>C (p.Arg145=)
 dbSNP
2g.222297008A>TCA431575895PAX3c.291T>A (p.Arg97=)
n.672T>A
c.435T>A (p.Arg145=)
 dbSNP
2g.222297008dupCA2586971543PAX3c.291dup (p.Pro98SerfsTer16)
n.672dup
c.291dup (p.Pro98SerfsTer15)
c.435dup (p.Pro146SerfsTer16)
2g.222297009C>ACA351113408PAX3c.290G>T (p.Arg97Leu)
n.671G>T
c.434G>T (p.Arg145Leu)
2g.222297009C=CA1330546496PAX3c.290G= (p.Arg97=)
n.671G=
c.434G= (p.Arg145=)
2g.222297009C>GCA351113409PAX3c.290G>C (p.Arg97Pro)
n.671G>C
c.434G>C (p.Arg145Pro)
 ClinVar dbSNP
2g.222297009C>TCA351113410PAX3c.290G>A (p.Arg97His)
n.671G>A
c.434G>A (p.Arg145His)
2g.222297010G>ACA351113411PAX3c.289C>T (p.Arg97Cys)
n.670C>T
c.433C>T (p.Arg145Cys)
 dbSNP gnomAD v4
2g.222297010G>CCA351113412PAX3c.289C>G (p.Arg97Gly)
n.670C>G
c.433C>G (p.Arg145Gly)
2g.222297010G=CA1330546497PAX3c.289C= (p.Arg97=)
n.670C=
c.433C= (p.Arg145=)
2g.222297010G>TCA2135790PAX3c.289C>A (p.Arg97Ser)
n.670C>A
c.433C>A (p.Arg145Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222297010_222297015dupCA2586971544PAX3c.284_289dup (p.Ile96_Arg97insProIle)
n.665_670dup
c.428_433dup (p.Ile144_Arg145insProIle)
2g.222297011delCA2580065796PAX3c.288del (p.Arg97ValfsTer13)
n.669del
c.288del (p.Arg97ValfsTer12)
c.432del (p.Arg145ValfsTer13)
 ClinVar
2g.222297011T>ACA431575896PAX3c.288A>T (p.Ile96=)
n.669A>T
c.432A>T (p.Ile144=)
2g.222297011T>CCA351113413PAX3c.288A>G (p.Ile96Met)
n.669A>G
c.432A>G (p.Ile144Met)
2g.222297011T>GCA431575897PAX3c.288A>C (p.Ile96=)
n.669A>C
c.432A>C (p.Ile144=)
2g.222297012A=CA1330546498PAX3c.287T= (p.Ile96=)
n.668T=
c.431T= (p.Ile144=)
2g.222297012A>CCA351113415PAX3c.287T>G (p.Ile96Arg)
n.668T>G
c.431T>G (p.Ile144Arg)
2g.222297012A>GCA351113416PAX3c.287T>C (p.Ile96Thr)
n.668T>C
c.431T>C (p.Ile144Thr)
 ClinVar dbSNP
2g.222297012A>TCA351113414PAX3c.287T>A (p.Ile96Lys)
n.668T>A
c.431T>A (p.Ile144Lys)
2g.222297013T>ACA351113417PAX3c.286A>T (p.Ile96Leu)
n.667A>T
c.430A>T (p.Ile144Leu)
2g.222297013T>CCA351113418PAX3c.286A>G (p.Ile96Val)
n.667A>G
c.430A>G (p.Ile144Val)
 gnomAD v4
2g.222297013T>GCA351113419PAX3c.286A>C (p.Ile96Leu)
n.667A>C
c.430A>C (p.Ile144Leu)
2g.222297014G>ACA431575898PAX3c.285C>T (p.Ser95=)
n.666C>T
c.429C>T (p.Ser143=)
 dbSNP gnomAD v2 gnomAD v4
2g.222297014G>CCA431575899PAX3c.285C>G (p.Ser95=)
n.666C>G
c.429C>G (p.Ser143=)
 gnomAD v4
2g.222297014G=CA1330546499PAX3c.285C= (p.Ser95=)
n.666C=
c.429C= (p.Ser143=)
2g.222297014G>TCA431575900PAX3c.285C>A (p.Ser95=)
n.666C>A
c.429C>A (p.Ser143=)
2g.222297015G>ACA351113420PAX3c.284C>T (p.Ser95Phe)
n.665C>T
c.428C>T (p.Ser143Phe)
 gnomAD v4
2g.222297015G>CCA351113421PAX3c.284C>G (p.Ser95Cys)
n.665C>G
c.428C>G (p.Ser143Cys)
2g.222297015G>TCA351113422PAX3c.284C>A (p.Ser95Tyr)
n.665C>A
c.428C>A (p.Ser143Tyr)
2g.222297016A>CCA351113423PAX3c.283T>G (p.Ser95Ala)
n.664T>G
c.427T>G (p.Ser143Ala)
2g.222297016A>GCA351113424PAX3c.283T>C (p.Ser95Pro)
n.664T>C
c.427T>C (p.Ser143Pro)
 COSMIC COSMIC COSMIC
2g.222297016A>TCA351113425PAX3c.283T>A (p.Ser95Thr)
n.664T>A
c.427T>A (p.Ser143Thr)
2g.222297017G>ACA431575901PAX3c.282C>T (p.Gly94=)
n.663C>T
c.426C>T (p.Gly142=)
2g.222297017G>CCA431575903PAX3c.282C>G (p.Gly94=)
n.663C>G
c.426C>G (p.Gly142=)
2g.222297017G>TCA431575902PAX3c.282C>A (p.Gly94=)
n.663C>A
c.426C>A (p.Gly142=)
2g.222297017_222297031delinsGCCAGTCTCCTGGTACA1330546500PAX3c.268_282delinsTACCAGGAGACTGGC (p.Tyr90=)
n.649_663delinsTACCAGGAGACTGGC
c.412_426delinsTACCAGGAGACTGGC (p.Tyr138=)
2g.222297018C>ACA351113426PAX3c.281G>T (p.Gly94Val)
n.662G>T
c.425G>T (p.Gly142Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.222297018C>GCA351113427PAX3c.281G>C (p.Gly94Ala)
n.662G>C
c.425G>C (p.Gly142Ala)
2g.222297018C>TCA351113428PAX3c.281G>A (p.Gly94Asp)
n.662G>A
c.425G>A (p.Gly142Asp)
2g.222297020_222297033delCA913190012PAX3c.268_281del (p.Tyr90LeufsTer19)
n.649_662del
c.268_281del (p.Tyr90LeufsTer18)
c.412_425del (p.Tyr138LeufsTer19)
 ClinVar dbSNP
2g.222297019C>ACA351113431PAX3c.280G>T (p.Gly94Cys)
n.661G>T
c.424G>T (p.Gly142Cys)
 ClinVar
2g.222297019C>GCA351113429PAX3c.280G>C (p.Gly94Arg)
n.661G>C
c.424G>C (p.Gly142Arg)
2g.222297019C>TCA351113430PAX3c.280G>A (p.Gly94Ser)
n.661G>A
c.424G>A (p.Gly142Ser)
2g.222297020A>CCA431575906PAX3c.279T>G (p.Thr93=)
n.660T>G
c.423T>G (p.Thr141=)
2g.222297020A>GCA431575905PAX3c.279T>C (p.Thr93=)
n.660T>C
c.423T>C (p.Thr141=)
2g.222297020A>TCA431575904PAX3c.279T>A (p.Thr93=)
n.660T>A
c.423T>A (p.Thr141=)
2g.222297021G>ACA351113432PAX3c.278C>T (p.Thr93Ile)
n.659C>T
c.422C>T (p.Thr141Ile)
2g.222297021G>CCA351113433PAX3c.278C>G (p.Thr93Ser)
n.659C>G
c.422C>G (p.Thr141Ser)
 gnomAD v4
2g.222297021G>TCA351113434PAX3c.278C>A (p.Thr93Asn)
n.659C>A
c.422C>A (p.Thr141Asn)
2g.222297022T>ACA351113435PAX3c.277A>T (p.Thr93Ser)
n.658A>T
c.421A>T (p.Thr141Ser)
2g.222297022T>CCA351113436PAX3c.277A>G (p.Thr93Ala)
n.658A>G
c.421A>G (p.Thr141Ala)
2g.222297022T>GCA351113437PAX3c.277A>C (p.Thr93Pro)
n.658A>C
c.421A>C (p.Thr141Pro)
2g.222297023C>ACA351113438PAX3c.276G>T (p.Glu92Asp)
n.657G>T
c.420G>T (p.Glu140Asp)
2g.222297023C>GCA351113439PAX3c.276G>C (p.Glu92Asp)
n.657G>C
c.420G>C (p.Glu140Asp)
2g.222297023C>TCA431575907PAX3c.276G>A (p.Glu92=)
n.657G>A
c.420G>A (p.Glu140=)
2g.222297024T>ACA351113440PAX3c.275A>T (p.Glu92Val)
n.656A>T
c.419A>T (p.Glu140Val)
2g.222297024T>CCA351113441PAX3c.275A>G (p.Glu92Gly)
n.656A>G
c.419A>G (p.Glu140Gly)
2g.222297024T>GCA351113442PAX3c.275A>C (p.Glu92Ala)
n.656A>C
c.419A>C (p.Glu140Ala)
2g.222297025C>ACA351113445PAX3c.274G>T (p.Glu92Ter)
n.655G>T
c.418G>T (p.Glu140Ter)
2g.222297025C=CA1330546501PAX3c.274G= (p.Glu92=)
n.655G=
c.418G= (p.Glu140=)
2g.222297025C>GCA351113444PAX3c.274G>C (p.Glu92Gln)
n.655G>C
c.418G>C (p.Glu140Gln)
2g.222297025C>TCA351113443PAX3c.274G>A (p.Glu92Lys)
n.655G>A
c.418G>A (p.Glu140Lys)
 dbSNP gnomAD v4
2g.222297026C>ACA351113446PAX3c.273G>T (p.Gln91His)
n.654G>T
c.417G>T (p.Gln139His)
2g.222297026C>GCA351113447PAX3c.273G>C (p.Gln91His)
n.654G>C
c.417G>C (p.Gln139His)
2g.222297026C>TCA431575908PAX3c.273G>A (p.Gln91=)
n.654G>A
c.417G>A (p.Gln139=)
2g.222297027T>ACA351113448PAX3c.272A>T (p.Gln91Leu)
n.653A>T
c.416A>T (p.Gln139Leu)
2g.222297027T>CCA351113450PAX3c.272A>G (p.Gln91Arg)
n.653A>G
c.416A>G (p.Gln139Arg)
 gnomAD v4
2g.222297027T>GCA351113449PAX3c.272A>C (p.Gln91Pro)
n.653A>C
c.416A>C (p.Gln139Pro)
2g.222297028G>ACA351113451PAX3c.271C>T (p.Gln91Ter)
n.652C>T
c.415C>T (p.Gln139Ter)
2g.222297028G>CCA351113452PAX3c.271C>G (p.Gln91Glu)
n.652C>G
c.415C>G (p.Gln139Glu)
2g.222297028G>TCA351113453PAX3c.271C>A (p.Gln91Lys)
n.652C>A
c.415C>A (p.Gln139Lys)
2g.222297028_222297037dupCA2697550473PAX3c.262_271dup (p.Gln91LeufsTer26)
n.643_652dup
c.262_271dup (p.Gln91LeufsTer25)
c.406_415dup (p.Gln139LeufsTer26)
 ClinVar
2g.222297029G>ACA431575909PAX3c.270C>T (p.Tyr90=)
n.651C>T
c.414C>T (p.Tyr138=)
2g.222297029G>CCA351113454PAX3c.270C>G (p.Tyr90Ter)
n.651C>G
c.414C>G (p.Tyr138Ter)
 ClinVar dbSNP
2g.222297029G=CA1330546502PAX3c.270C= (p.Tyr90=)
n.651C=
c.414C= (p.Tyr138=)
2g.222297029G>TCA351113455PAX3c.270C>A (p.Tyr90Ter)
n.651C>A
c.414C>A (p.Tyr138Ter)
2g.222297030T>ACA351113456PAX3c.269A>T (p.Tyr90Phe)
n.650A>T
c.413A>T (p.Tyr138Phe)
2g.222297030T>CCA351113457PAX3c.269A>G (p.Tyr90Cys)
n.650A>G
c.413A>G (p.Tyr138Cys)
 ClinVar dbSNP
2g.222297030T>GCA351113458PAX3c.269A>C (p.Tyr90Ser)
n.650A>C
c.413A>C (p.Tyr138Ser)
2g.222297030T=CA1330546503PAX3c.269A= (p.Tyr90=)
n.650A=
c.413A= (p.Tyr138=)
2g.222297031A=CA1330546504PAX3c.268T= (p.Tyr90=)
n.649T=
c.412T= (p.Tyr138=)
2g.222297031A>CCA351113459PAX3c.268T>G (p.Tyr90Asp)
n.649T>G
c.412T>G (p.Tyr138Asp)
2g.222297031A>GCA116694PAX3c.268T>C (p.Tyr90His)
n.649T>C
c.412T>C (p.Tyr138His)
 ClinVar dbSNP
2g.222297031A>TCA351113460PAX3c.268T>A (p.Tyr90Asn)
n.649T>A
c.412T>A (p.Tyr138Asn)
2g.222297032C>ACA351113461PAX3c.267G>T (p.Arg89Ser)
n.648G>T
c.411G>T (p.Arg137Ser)
 gnomAD v4
2g.222297032C=CA1330546505PAX3c.267G= (p.Arg89=)
n.648G=
c.411G= (p.Arg137=)
2g.222297032C>GCA351113462PAX3c.267G>C (p.Arg89Ser)
n.648G>C
c.411G>C (p.Arg137Ser)
 dbSNP
2g.222297032C>TCA431575910PAX3c.267G>A (p.Arg89=)
n.648G>A
c.411G>A (p.Arg137=)
2g.222297033C>ACA351113463PAX3c.266G>T (p.Arg89Met)
n.647G>T
c.410G>T (p.Arg137Met)
2g.222297033C>GCA351113465PAX3c.266G>C (p.Arg89Thr)
n.647G>C
c.410G>C (p.Arg137Thr)
 ClinVar
2g.222297033C>TCA351113464PAX3c.266G>A (p.Arg89Lys)
n.647G>A
c.410G>A (p.Arg137Lys)
2g.222297034T>ACA351113466PAX3c.265A>T (p.Arg89Trp)
n.646A>T
c.409A>T (p.Arg137Trp)
2g.222297034T>CCA351113467PAX3c.265A>G (p.Arg89Gly)
n.646A>G
c.409A>G (p.Arg137Gly)
2g.222297034T>GCA431575911PAX3c.265A>C (p.Arg89=)
n.646A>C
c.409A>C (p.Arg137=)
2g.222297034_222297035delinsTGCA1330546506PAX3c.264_265delinsCA (p.Cys88=)
n.645_646delinsCA
c.408_409delinsCA (p.Cys136=)
2g.222297035delCA1139657712PAX3c.264del (p.Cys88Ter)
n.645del
c.408del (p.Cys136Ter)
 ClinVar dbSNP
2g.222297035G>ACA431575912PAX3c.264C>T (p.Cys88=)
n.645C>T
c.408C>T (p.Cys136=)
 dbSNP gnomAD v3 gnomAD v4
2g.222297035G>CCA351113468PAX3c.264C>G (p.Cys88Trp)
n.645C>G
c.408C>G (p.Cys136Trp)
2g.222297035G=CA1330546507PAX3c.264C= (p.Cys88=)
n.645C=
c.408C= (p.Cys136=)
2g.222297035G>TCA351113469PAX3c.264C>A (p.Cys88Ter)
n.645C>A
c.408C>A (p.Cys136Ter)
2g.222297036C>ACA351113470PAX3c.263G>T (p.Cys88Phe)
n.644G>T
c.407G>T (p.Cys136Phe)
 gnomAD v4
2g.222297036C>GCA351113471PAX3c.263G>C (p.Cys88Ser)
n.644G>C
c.407G>C (p.Cys136Ser)
2g.222297036C>TCA351113472PAX3c.263G>A (p.Cys88Tyr)
n.644G>A
c.407G>A (p.Cys136Tyr)
2g.222297037A>CCA351113473PAX3c.262T>G (p.Cys88Gly)
n.643T>G
c.406T>G (p.Cys136Gly)
 gnomAD v4
2g.222297037A>GCA351113474PAX3c.262T>C (p.Cys88Arg)
n.643T>C
c.406T>C (p.Cys136Arg)
2g.222297037A>TCA351113475PAX3c.262T>A (p.Cys88Ser)
n.643T>A
c.406T>A (p.Cys136Ser)
2g.222297038C>ACA431575913PAX3c.261G>T (p.Leu87=)
n.642G>T
c.405G>T (p.Leu135=)
2g.222297038C=CA1330546508PAX3c.261G= (p.Leu87=)
n.642G=
c.405G= (p.Leu135=)
2g.222297038C>GCA431575915PAX3c.261G>C (p.Leu87=)
n.642G>C
c.405G>C (p.Leu135=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222297038C>TCA431575914PAX3c.261G>A (p.Leu87=)
n.642G>A
c.405G>A (p.Leu135=)
 dbSNP
2g.222297039delCA2586971545PAX3c.260del (p.Leu87ArgfsTer23)
n.641del
c.260del (p.Leu87ArgfsTer22)
c.404del (p.Leu135ArgfsTer23)
2g.222297039A>CCA351113478PAX3c.260T>G (p.Leu87Arg)
n.641T>G
c.404T>G (p.Leu135Arg)
2g.222297039A>GCA351113477PAX3c.260T>C (p.Leu87Pro)
n.641T>C
c.404T>C (p.Leu135Pro)
2g.222297039A>TCA351113476PAX3c.260T>A (p.Leu87Gln)
n.641T>A
c.404T>A (p.Leu135Gln)
2g.222297040G>ACA431575916PAX3c.259C>T (p.Leu87=)
n.640C>T
c.403C>T (p.Leu135=)
2g.222297040G>CCA351113480PAX3c.259C>G (p.Leu87Val)
n.640C>G
c.403C>G (p.Leu135Val)
2g.222297040G>TCA351113479PAX3c.259C>A (p.Leu87Met)
n.640C>A
c.403C>A (p.Leu135Met)
2g.222297041G>ACA431575917PAX3c.258C>T (p.Ile86=)
n.639C>T
c.402C>T (p.Ile134=)
2g.222297041G>CCA351113481PAX3c.258C>G (p.Ile86Met)
n.639C>G
c.402C>G (p.Ile134Met)
2g.222297041G>TCA431575918PAX3c.258C>A (p.Ile86=)
n.639C>A
c.402C>A (p.Ile134=)
2g.222297042A>CCA351113482PAX3c.257T>G (p.Ile86Ser)
n.638T>G
c.401T>G (p.Ile134Ser)
2g.222297042A>GCA351113483PAX3c.257T>C (p.Ile86Thr)
n.638T>C
c.401T>C (p.Ile134Thr)
2g.222297042A>TCA351113484PAX3c.257T>A (p.Ile86Asn)
n.638T>A
c.401T>A (p.Ile134Asn)
2g.222297043T>ACA351113485PAX3c.256A>T (p.Ile86Phe)
n.637A>T
c.400A>T (p.Ile134Phe)
 ClinVar dbSNP
2g.222297043T>CCA351113486PAX3c.256A>G (p.Ile86Val)
n.637A>G
c.400A>G (p.Ile134Val)
2g.222297043T>GCA351113487PAX3c.256A>C (p.Ile86Leu)
n.637A>C
c.400A>C (p.Ile134Leu)
2g.222297043T=CA1330546509PAX3c.256A= (p.Ile86=)
n.637A=
c.400A= (p.Ile134=)
2g.222297044C>ACA351113488PAX3c.255G>T (p.Lys85Asn)
n.636G>T
c.399G>T (p.Lys133Asn)
2g.222297044C>GCA351113489PAX3c.255G>C (p.Lys85Asn)
n.636G>C
c.399G>C (p.Lys133Asn)
 ClinVar dbSNP
2g.222297044C>TCA431575919PAX3c.255G>A (p.Lys85=)
n.636G>A
c.399G>A (p.Lys133=)
2g.222297045T>ACA351113490PAX3c.254A>T (p.Lys85Met)
n.635A>T
c.398A>T (p.Lys133Met)
2g.222297045T>CCA351113491PAX3c.254A>G (p.Lys85Arg)
n.635A>G
c.398A>G (p.Lys133Arg)
2g.222297045T>GCA351113492PAX3c.254A>C (p.Lys85Thr)
n.635A>C
c.398A>C (p.Lys133Thr)
2g.222297046T>ACA351113495PAX3c.253A>T (p.Lys85Ter)
n.634A>T
c.397A>T (p.Lys133Ter)
2g.222297046T>CCA351113493PAX3c.253A>G (p.Lys85Glu)
n.634A>G
c.397A>G (p.Lys133Glu)
2g.222297046T>GCA351113494PAX3c.253A>C (p.Lys85Gln)
n.634A>C
c.397A>C (p.Lys133Gln)
2g.222297047G>ACA431575920PAX3c.252C>T (p.Ser84=)
n.633C>T
c.396C>T (p.Ser132=)
 gnomAD v4
2g.222297047G>CCA431575921PAX3c.252C>G (p.Ser84=)
n.633C>G
c.396C>G (p.Ser132=)
2g.222297047G>TCA431575922PAX3c.252C>A (p.Ser84=)
n.633C>A
c.396C>A (p.Ser132=)
2g.222297048G>ACA116691PAX3c.251C>T (p.Ser84Phe)
n.632C>T
c.395C>T (p.Ser132Phe)
 ClinVar dbSNP
2g.222297048G>CCA351113496PAX3c.251C>G (p.Ser84Cys)
n.632C>G
c.395C>G (p.Ser132Cys)
2g.222297048G=CA1330546510PAX3c.251C= (p.Ser84=)
n.632C=
c.395C= (p.Ser132=)
2g.222297048G>TCA351113497PAX3c.251C>A (p.Ser84Tyr)
n.632C>A
c.395C>A (p.Ser132Tyr)
2g.222297049A>CCA351113498PAX3c.250T>G (p.Ser84Ala)
n.631T>G
c.394T>G (p.Ser132Ala)
2g.222297049A>GCA351113499PAX3c.250T>C (p.Ser84Pro)
n.631T>C
c.394T>C (p.Ser132Pro)
2g.222297049A>TCA351113500PAX3c.250T>A (p.Ser84Thr)
n.631T>A
c.394T>A (p.Ser132Thr)
2g.222297050G>ACA431575923PAX3c.249C>T (p.Val83=)
n.630C>T
c.393C>T (p.Val131=)
2g.222297050G>CCA431575924PAX3c.249C>G (p.Val83=)
n.630C>G
c.393C>G (p.Val131=)
2g.222297050G>TCA431575925PAX3c.249C>A (p.Val83=)
n.630C>A
c.393C>A (p.Val131=)
2g.222297051A>CCA351113501PAX3c.248T>G (p.Val83Gly)
n.629T>G
c.392T>G (p.Val131Gly)
2g.222297051A>GCA351113502PAX3c.248T>C (p.Val83Ala)
n.629T>C
c.392T>C (p.Val131Ala)
2g.222297051A>TCA351113503PAX3c.248T>A (p.Val83Asp)
n.629T>A
c.392T>A (p.Val131Asp)

Number of alleles fetched