Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222232181T>A | CA351112529 | PAX3 | c.689A>T (p.Gln230Leu) n.503A>T c.686A>T (p.Gln229Leu) c.833A>T (p.Gln278Leu) c.125A>T (p.Gln42Leu) n.287+10211T>A | |
2 | g.222232181T>C | CA351112532 | PAX3 | c.689A>G (p.Gln230Arg) n.503A>G c.686A>G (p.Gln229Arg) c.833A>G (p.Gln278Arg) c.125A>G (p.Gln42Arg) n.287+10211T>C | |
2 | g.222232181T>G | CA351112534 | PAX3 | c.689A>C (p.Gln230Pro) n.503A>C c.686A>C (p.Gln229Pro) c.833A>C (p.Gln278Pro) c.125A>C (p.Gln42Pro) n.287+10211T>G | |
2 | g.222232182G>A | CA351112536 | PAX3 | c.688C>T (p.Gln230Ter) n.502C>T c.685C>T (p.Gln229Ter) c.832C>T (p.Gln278Ter) c.124C>T (p.Gln42Ter) n.287+10212G>A | |
2 | g.222232182G>C | CA351112537 | PAX3 | c.688C>G (p.Gln230Glu) n.502C>G c.685C>G (p.Gln229Glu) c.832C>G (p.Gln278Glu) c.124C>G (p.Gln42Glu) n.287+10212G>C | |
2 | g.222232182G>T | CA351112539 | PAX3 | c.688C>A (p.Gln230Lys) n.502C>A c.685C>A (p.Gln229Lys) c.832C>A (p.Gln278Lys) c.124C>A (p.Gln42Lys) n.287+10212G>T | ClinVar COSMIC |
2 | g.222232183T>A | CA351112543 | PAX3 | c.687A>T (p.Glu229Asp) n.501A>T c.684A>T (p.Glu228Asp) c.831A>T (p.Glu277Asp) c.123A>T (p.Glu41Asp) n.287+10213T>A | |
2 | g.222232183T>C | CA431575642 | PAX3 | c.687A>G (p.Glu229=) n.501A>G c.684A>G (p.Glu228=) c.831A>G (p.Glu277=) c.123A>G (p.Glu41=) n.287+10213T>C | |
2 | g.222232183T>G | CA351112541 | PAX3 | c.687A>C (p.Glu229Asp) n.501A>C c.684A>C (p.Glu228Asp) c.831A>C (p.Glu277Asp) c.123A>C (p.Glu41Asp) n.287+10213T>G | |
2 | g.222232184T>A | CA351112546 | PAX3 | c.686A>T (p.Glu229Val) n.500A>T c.683A>T (p.Glu228Val) c.830A>T (p.Glu277Val) c.122A>T (p.Glu41Val) n.287+10214T>A | |
2 | g.222232184T>C | CA351112547 | PAX3 | c.686A>G (p.Glu229Gly) n.500A>G c.683A>G (p.Glu228Gly) c.830A>G (p.Glu277Gly) c.122A>G (p.Glu41Gly) n.287+10214T>C | |
2 | g.222232184T>G | CA351112548 | PAX3 | c.686A>C (p.Glu229Ala) n.500A>C c.683A>C (p.Glu228Ala) c.830A>C (p.Glu277Ala) c.122A>C (p.Glu41Ala) n.287+10214T>G | |
2 | g.222232185C>A | CA351112551 | PAX3 | c.685G>T (p.Glu229Ter) n.499G>T c.682G>T (p.Glu228Ter) c.829G>T (p.Glu277Ter) c.121G>T (p.Glu41Ter) n.287+10215C>A | |
2 | g.222232185C= | CA1330516241 | PAX3 | c.685G= (p.Glu229=) n.499G= c.682G= (p.Glu228=) c.829G= (p.Glu277=) c.121G= (p.Glu41=) n.287+10215C= | |
2 | g.222232185C>G | CA351112552 | PAX3 | c.685G>C (p.Glu229Gln) n.499G>C c.682G>C (p.Glu228Gln) c.829G>C (p.Glu277Gln) c.121G>C (p.Glu41Gln) n.287+10215C>G | |
2 | g.222232185C>T | CA351112553 | PAX3 | c.685G>A (p.Glu229Lys) n.499G>A c.682G>A (p.Glu228Lys) c.829G>A (p.Glu277Lys) c.121G>A (p.Glu41Lys) n.287+10215C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232186T>A | CA431575643 | PAX3 | c.684A>T (p.Ala228=) n.498A>T c.681A>T (p.Ala227=) c.828A>T (p.Ala276=) c.120A>T (p.Ala40=) n.287+10216T>A | |
2 | g.222232186T>C | CA431575644 | PAX3 | c.684A>G (p.Ala228=) n.498A>G c.681A>G (p.Ala227=) c.828A>G (p.Ala276=) c.120A>G (p.Ala40=) n.287+10216T>C | |
2 | g.222232186T>G | CA431575645 | PAX3 | c.684A>C (p.Ala228=) n.498A>C c.681A>C (p.Ala227=) c.828A>C (p.Ala276=) c.120A>C (p.Ala40=) n.287+10216T>G | |
2 | g.222232187G>A | CA2135600 | PAX3 | c.683C>T (p.Ala228Val) n.497C>T c.680C>T (p.Ala227Val) c.827C>T (p.Ala276Val) c.119C>T (p.Ala40Val) n.287+10217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222232187G>C | CA351112555 | PAX3 | c.683C>G (p.Ala228Gly) n.497C>G c.680C>G (p.Ala227Gly) c.827C>G (p.Ala276Gly) c.119C>G (p.Ala40Gly) n.287+10217G>C | |
2 | g.222232187G= | CA1330516242 | PAX3 | c.683C= (p.Ala228=) n.497C= c.680C= (p.Ala227=) c.827C= (p.Ala276=) c.119C= (p.Ala40=) n.287+10217G= | |
2 | g.222232187G>T | CA351112558 | PAX3 | c.683C>A (p.Ala228Glu) n.497C>A c.680C>A (p.Ala227Glu) c.827C>A (p.Ala276Glu) c.119C>A (p.Ala40Glu) n.287+10217G>T | |
2 | g.222232188C>A | CA351112560 | PAX3 | c.682G>T (p.Ala228Ser) n.496G>T c.679G>T (p.Ala227Ser) c.826G>T (p.Ala276Ser) c.118G>T (p.Ala40Ser) n.287+10218C>A | |
2 | g.222232188C>G | CA351112561 | PAX3 | c.682G>C (p.Ala228Pro) n.496G>C c.679G>C (p.Ala227Pro) c.826G>C (p.Ala276Pro) c.118G>C (p.Ala40Pro) n.287+10218C>G | |
2 | g.222232188C>T | CA351112562 | PAX3 | c.682G>A (p.Ala228Thr) n.496G>A c.679G>A (p.Ala227Thr) c.826G>A (p.Ala276Thr) c.118G>A (p.Ala40Thr) n.287+10218C>T | |
2 | g.222232189T>A | CA431575646 | PAX3 | c.681A>T (p.Thr227=) n.495A>T c.678A>T (p.Thr226=) c.825A>T (p.Thr275=) c.117A>T (p.Thr39=) n.287+10219T>A | |
2 | g.222232189T>C | CA431575647 | PAX3 | c.681A>G (p.Thr227=) n.495A>G c.678A>G (p.Thr226=) c.825A>G (p.Thr275=) c.117A>G (p.Thr39=) n.287+10219T>C | |
2 | g.222232189T>G | CA431575648 | PAX3 | c.681A>C (p.Thr227=) n.495A>C c.678A>C (p.Thr226=) c.825A>C (p.Thr275=) c.117A>C (p.Thr39=) n.287+10219T>G | |
2 | g.222232190G>A | CA351112565 | PAX3 | c.680C>T (p.Thr227Ile) n.494C>T c.677C>T (p.Thr226Ile) c.824C>T (p.Thr275Ile) c.116C>T (p.Thr39Ile) n.287+10220G>A | gnomAD v4 |
2 | g.222232190G>C | CA351112567 | PAX3 | c.680C>G (p.Thr227Arg) n.494C>G c.677C>G (p.Thr226Arg) c.824C>G (p.Thr275Arg) c.116C>G (p.Thr39Arg) n.287+10220G>C | dbSNP |
2 | g.222232190G= | CA1330516243 | PAX3 | c.680C= (p.Thr227=) n.494C= c.677C= (p.Thr226=) c.824C= (p.Thr275=) c.116C= (p.Thr39=) n.287+10220G= | |
2 | g.222232190G>T | CA351112563 | PAX3 | c.680C>A (p.Thr227Lys) n.494C>A c.677C>A (p.Thr226Lys) c.824C>A (p.Thr275Lys) c.116C>A (p.Thr39Lys) n.287+10220G>T | |
2 | g.222232191T>A | CA351112569 | PAX3 | c.679A>T (p.Thr227Ser) n.493A>T c.676A>T (p.Thr226Ser) c.823A>T (p.Thr275Ser) c.115A>T (p.Thr39Ser) n.287+10221T>A | |
2 | g.222232191T>C | CA351112571 | PAX3 | c.679A>G (p.Thr227Ala) n.493A>G c.676A>G (p.Thr226Ala) c.823A>G (p.Thr275Ala) c.115A>G (p.Thr39Ala) n.287+10221T>C | |
2 | g.222232191T>G | CA351112572 | PAX3 | c.679A>C (p.Thr227Pro) n.493A>C c.676A>C (p.Thr226Pro) c.823A>C (p.Thr275Pro) c.115A>C (p.Thr39Pro) n.287+10221T>G | |
2 | g.222232192G>A | CA431575649 | PAX3 | c.678C>T (p.Phe226=) n.492C>T c.675C>T (p.Phe225=) c.822C>T (p.Phe274=) c.114C>T (p.Phe38=) n.287+10222G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222232192G>C | CA351112575 | PAX3 | c.678C>G (p.Phe226Leu) n.492C>G c.675C>G (p.Phe225Leu) c.822C>G (p.Phe274Leu) c.114C>G (p.Phe38Leu) n.287+10222G>C | |
2 | g.222232192G= | CA1330516244 | PAX3 | c.678C= (p.Phe226=) n.492C= c.675C= (p.Phe225=) c.822C= (p.Phe274=) c.114C= (p.Phe38=) n.287+10222G= | |
2 | g.222232192G>T | CA351112577 | PAX3 | c.678C>A (p.Phe226Leu) n.492C>A c.675C>A (p.Phe225Leu) c.822C>A (p.Phe274Leu) c.114C>A (p.Phe38Leu) n.287+10222G>T | |
2 | g.222232192_222232193delinsTT | CA645523629 | PAX3 | c.677_678delinsAA (p.Phe226Ter) n.491_492delinsAA c.674_675delinsAA (p.Phe225Ter) c.821_822delinsAA (p.Phe274Ter) c.113_114delinsAA (p.Phe38Ter) n.287+10222_287+10223delinsTT | COSMIC COSMIC |
2 | g.222232193A>C | CA351112583 | PAX3 | c.677T>G (p.Phe226Cys) n.491T>G c.674T>G (p.Phe225Cys) c.821T>G (p.Phe274Cys) c.113T>G (p.Phe38Cys) n.287+10223A>C | |
2 | g.222232193A>G | CA351112580 | PAX3 | c.677T>C (p.Phe226Ser) n.491T>C c.674T>C (p.Phe225Ser) c.821T>C (p.Phe274Ser) c.113T>C (p.Phe38Ser) n.287+10223A>G | |
2 | g.222232193A>T | CA351112581 | PAX3 | c.677T>A (p.Phe226Tyr) n.491T>A c.674T>A (p.Phe225Tyr) c.821T>A (p.Phe274Tyr) c.113T>A (p.Phe38Tyr) n.287+10223A>T | |
2 | g.222232194A>C | CA351112585 | PAX3 | c.676T>G (p.Phe226Val) n.490T>G c.673T>G (p.Phe225Val) c.820T>G (p.Phe274Val) c.112T>G (p.Phe38Val) n.287+10224A>C | |
2 | g.222232194A>G | CA351112587 | PAX3 | c.676T>C (p.Phe226Leu) n.490T>C c.673T>C (p.Phe225Leu) c.820T>C (p.Phe274Leu) c.112T>C (p.Phe38Leu) n.287+10224A>G | |
2 | g.222232194A>T | CA351112588 | PAX3 | c.676T>A (p.Phe226Ile) n.490T>A c.673T>A (p.Phe225Ile) c.820T>A (p.Phe274Ile) c.112T>A (p.Phe38Ile) n.287+10224A>T | |
2 | g.222232195G>A | CA431575650 | PAX3 | c.675C>T (p.Thr225=) n.489C>T c.672C>T (p.Thr224=) c.819C>T (p.Thr273=) c.111C>T (p.Thr37=) n.287+10225G>A | gnomAD v4 |
2 | g.222232195G>C | CA431575651 | PAX3 | c.675C>G (p.Thr225=) n.489C>G c.672C>G (p.Thr224=) c.819C>G (p.Thr273=) c.111C>G (p.Thr37=) n.287+10225G>C | |
2 | g.222232195G= | CA1330516245 | PAX3 | c.675C= (p.Thr225=) n.489C= c.672C= (p.Thr224=) c.819C= (p.Thr273=) c.111C= (p.Thr37=) n.287+10225G= | |
2 | g.222232195G>T | CA431575652 | PAX3 | c.675C>A (p.Thr225=) n.489C>A c.672C>A (p.Thr224=) c.819C>A (p.Thr273=) c.111C>A (p.Thr37=) n.287+10225G>T | dbSNP |
2 | g.222232196G>A | CA351112591 | PAX3 | c.674C>T (p.Thr225Ile) n.488C>T c.671C>T (p.Thr224Ile) c.818C>T (p.Thr273Ile) c.110C>T (p.Thr37Ile) n.287+10226G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232196G>C | CA351112592 | PAX3 | c.674C>G (p.Thr225Ser) n.488C>G c.671C>G (p.Thr224Ser) c.818C>G (p.Thr273Ser) c.110C>G (p.Thr37Ser) n.287+10226G>C | |
2 | g.222232196G= | CA1330516246 | PAX3 | c.674C= (p.Thr225=) n.488C= c.671C= (p.Thr224=) c.818C= (p.Thr273=) c.110C= (p.Thr37=) n.287+10226G= | |
2 | g.222232196G>T | CA351112594 | PAX3 | c.674C>A (p.Thr225Asn) n.488C>A c.671C>A (p.Thr224Asn) c.818C>A (p.Thr273Asn) c.110C>A (p.Thr37Asn) n.287+10226G>T | |
2 | g.222232197T>A | CA351112597 | PAX3 | c.673A>T (p.Thr225Ser) n.487A>T c.670A>T (p.Thr224Ser) c.817A>T (p.Thr273Ser) c.109A>T (p.Thr37Ser) n.287+10227T>A | |
2 | g.222232197T>C | CA351112599 | PAX3 | c.673A>G (p.Thr225Ala) n.487A>G c.670A>G (p.Thr224Ala) c.817A>G (p.Thr273Ala) c.109A>G (p.Thr37Ala) n.287+10227T>C | |
2 | g.222232197T>G | CA351112596 | PAX3 | c.673A>C (p.Thr225Pro) n.487A>C c.670A>C (p.Thr224Pro) c.817A>C (p.Thr273Pro) c.109A>C (p.Thr37Pro) n.287+10227T>G | gnomAD v4 |
2 | g.222232198G>A | CA2135601 | PAX3 | c.672C>T (p.Thr224=) n.486C>T c.669C>T (p.Thr223=) c.816C>T (p.Thr272=) c.108C>T (p.Thr36=) n.287+10228G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232198G>C | CA431575653 | PAX3 | c.672C>G (p.Thr224=) n.486C>G c.669C>G (p.Thr223=) c.816C>G (p.Thr272=) c.108C>G (p.Thr36=) n.287+10228G>C | |
2 | g.222232198G= | CA1330516247 | PAX3 | c.672C= (p.Thr224=) n.486C= c.669C= (p.Thr223=) c.816C= (p.Thr272=) c.108C= (p.Thr36=) n.287+10228G= | |
2 | g.222232198G>T | CA431575654 | PAX3 | c.672C>A (p.Thr224=) n.486C>A c.669C>A (p.Thr223=) c.816C>A (p.Thr272=) c.108C>A (p.Thr36=) n.287+10228G>T | |
2 | g.222232199G>A | CA351112603 | PAX3 | c.671C>T (p.Thr224Ile) n.485C>T c.668C>T (p.Thr223Ile) c.815C>T (p.Thr272Ile) c.107C>T (p.Thr36Ile) n.287+10229G>A | ClinVar dbSNP |
2 | g.222232199G>C | CA351112604 | PAX3 | c.671C>G (p.Thr224Ser) n.485C>G c.668C>G (p.Thr223Ser) c.815C>G (p.Thr272Ser) c.107C>G (p.Thr36Ser) n.287+10229G>C | |
2 | g.222232199G= | CA1330516248 | PAX3 | c.671C= (p.Thr224=) n.485C= c.668C= (p.Thr223=) c.815C= (p.Thr272=) c.107C= (p.Thr36=) n.287+10229G= | |
2 | g.222232199G>T | CA351112605 | PAX3 | c.671C>A (p.Thr224Asn) n.485C>A c.668C>A (p.Thr223Asn) c.815C>A (p.Thr272Asn) c.107C>A (p.Thr36Asn) n.287+10229G>T | |
2 | g.222232200T>A | CA351112608 | PAX3 | c.670A>T (p.Thr224Ser) n.484A>T c.667A>T (p.Thr223Ser) c.814A>T (p.Thr272Ser) c.106A>T (p.Thr36Ser) n.287+10230T>A | |
2 | g.222232200T>C | CA351112610 | PAX3 | c.670A>G (p.Thr224Ala) n.484A>G c.667A>G (p.Thr223Ala) c.814A>G (p.Thr272Ala) c.106A>G (p.Thr36Ala) n.287+10230T>C | |
2 | g.222232200T>G | CA351112611 | PAX3 | c.670A>C (p.Thr224Pro) n.484A>C c.667A>C (p.Thr223Pro) c.814A>C (p.Thr272Pro) c.106A>C (p.Thr36Pro) n.287+10230T>G | |
2 | g.222232201T>A | CA431575655 | PAX3 | c.669A>T (p.Arg223=) n.483A>T c.666A>T (p.Arg222=) c.813A>T (p.Arg271=) c.105A>T (p.Arg35=) n.287+10231T>A | |
2 | g.222232201T>C | CA431575656 | PAX3 | c.669A>G (p.Arg223=) n.483A>G c.666A>G (p.Arg222=) c.813A>G (p.Arg271=) c.105A>G (p.Arg35=) n.287+10231T>C | |
2 | g.222232201T>G | CA431575657 | PAX3 | c.669A>C (p.Arg223=) n.483A>C c.666A>C (p.Arg222=) c.813A>C (p.Arg271=) c.105A>C (p.Arg35=) n.287+10231T>G | |
2 | g.222232202C>A | CA351112613 | PAX3 | c.668G>T (p.Arg223Leu) n.482G>T c.665G>T (p.Arg222Leu) c.812G>T (p.Arg271Leu) c.104G>T (p.Arg35Leu) n.287+10232C>A | ClinVar |
2 | g.222232202C= | CA1330516249 | PAX3 | c.668G= (p.Arg223=) n.482G= c.665G= (p.Arg222=) c.812G= (p.Arg271=) c.104G= (p.Arg35=) n.287+10232C= | |
2 | g.222232202C>G | CA351112616 | PAX3 | c.668G>C (p.Arg223Pro) n.482G>C c.665G>C (p.Arg222Pro) c.812G>C (p.Arg271Pro) c.104G>C (p.Arg35Pro) n.287+10232C>G | |
2 | g.222232202C>T | CA10576591 | PAX3 | c.668G>A (p.Arg223Gln) n.482G>A c.665G>A (p.Arg222Gln) c.812G>A (p.Arg271Gln) c.104G>A (p.Arg35Gln) n.287+10232C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232203G>A | CA2135602 | PAX3 | c.667C>T (p.Arg223Ter) n.481C>T c.664C>T (p.Arg222Ter) c.811C>T (p.Arg271Ter) c.103C>T (p.Arg35Ter) n.287+10233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232203G>C | CA351112618 | PAX3 | c.667C>G (p.Arg223Gly) n.481C>G c.664C>G (p.Arg222Gly) c.811C>G (p.Arg271Gly) c.103C>G (p.Arg35Gly) n.287+10233G>C | |
2 | g.222232203G= | CA1330516250 | PAX3 | c.667C= (p.Arg223=) n.481C= c.664C= (p.Arg222=) c.811C= (p.Arg271=) c.103C= (p.Arg35=) n.287+10233G= | |
2 | g.222232203G>T | CA431575658 | PAX3 | c.667C>A (p.Arg223=) n.481C>A c.664C>A (p.Arg222=) c.811C>A (p.Arg271=) c.103C>A (p.Arg35=) n.287+10233G>T | |
2 | g.222232204G>A | CA431575659 | PAX3 | c.666C>T (p.Ser222=) n.480C>T c.663C>T (p.Ser221=) c.810C>T (p.Ser270=) c.102C>T (p.Ser34=) n.287+10234G>A | dbSNP gnomAD v4 |
2 | g.222232204G>C | CA351112620 | PAX3 | c.666C>G (p.Ser222Arg) n.480C>G c.663C>G (p.Ser221Arg) c.810C>G (p.Ser270Arg) c.102C>G (p.Ser34Arg) n.287+10234G>C | |
2 | g.222232204G= | CA1330516251 | PAX3 | c.666C= (p.Ser222=) n.480C= c.663C= (p.Ser221=) c.810C= (p.Ser270=) c.102C= (p.Ser34=) n.287+10234G= | |
2 | g.222232204G>T | CA351112622 | PAX3 | c.666C>A (p.Ser222Arg) n.480C>A c.663C>A (p.Ser221Arg) c.810C>A (p.Ser270Arg) c.102C>A (p.Ser34Arg) n.287+10234G>T | |
2 | g.222232205C>A | CA351112626 | PAX3 | c.665G>T (p.Ser222Ile) n.479G>T c.662G>T (p.Ser221Ile) c.809G>T (p.Ser270Ile) c.101G>T (p.Ser34Ile) n.287+10235C>A | |
2 | g.222232205C>G | CA351112624 | PAX3 | c.665G>C (p.Ser222Thr) n.479G>C c.662G>C (p.Ser221Thr) c.809G>C (p.Ser270Thr) c.101G>C (p.Ser34Thr) n.287+10235C>G | |
2 | g.222232205C>T | CA351112625 | PAX3 | c.665G>A (p.Ser222Asn) n.479G>A c.662G>A (p.Ser221Asn) c.809G>A (p.Ser270Asn) c.101G>A (p.Ser34Asn) n.287+10235C>T | |
2 | g.222232206T>A | CA351112629 | PAX3 | c.664A>T (p.Ser222Cys) n.478A>T c.661A>T (p.Ser221Cys) c.808A>T (p.Ser270Cys) c.100A>T (p.Ser34Cys) n.287+10236T>A | |
2 | g.222232206T>C | CA351112631 | PAX3 | c.664A>G (p.Ser222Gly) n.478A>G c.661A>G (p.Ser221Gly) c.808A>G (p.Ser270Gly) c.100A>G (p.Ser34Gly) n.287+10236T>C | |
2 | g.222232206T>G | CA351112632 | PAX3 | c.664A>C (p.Ser222Arg) n.478A>C c.661A>C (p.Ser221Arg) c.808A>C (p.Ser270Arg) c.100A>C (p.Ser34Arg) n.287+10236T>G | |
2 | g.222232207T>A | CA351112634 | PAX3 | c.663A>T (p.Arg221Ser) n.477A>T c.660A>T (p.Arg220Ser) c.807A>T (p.Arg269Ser) c.99A>T (p.Arg33Ser) n.287+10237T>A | |
2 | g.222232207T>C | CA431575660 | PAX3 | c.663A>G (p.Arg221=) n.477A>G c.660A>G (p.Arg220=) c.807A>G (p.Arg269=) c.99A>G (p.Arg33=) n.287+10237T>C | |
2 | g.222232207T>G | CA351112636 | PAX3 | c.663A>C (p.Arg221Ser) n.477A>C c.660A>C (p.Arg220Ser) c.807A>C (p.Arg269Ser) c.99A>C (p.Arg33Ser) n.287+10237T>G | |
2 | g.222232208C>A | CA351112637 | PAX3 | c.662G>T (p.Arg221Ile) n.476G>T c.659G>T (p.Arg220Ile) c.806G>T (p.Arg269Ile) c.98G>T (p.Arg33Ile) n.287+10238C>A | |
2 | g.222232208C>G | CA351112638 | PAX3 | c.662G>C (p.Arg221Thr) n.476G>C c.659G>C (p.Arg220Thr) c.806G>C (p.Arg269Thr) c.98G>C (p.Arg33Thr) n.287+10238C>G | |
2 | g.222232208C>T | CA351112639 | PAX3 | c.662G>A (p.Arg221Lys) n.476G>A c.659G>A (p.Arg220Lys) c.806G>A (p.Arg269Lys) c.98G>A (p.Arg33Lys) n.287+10238C>T | |
2 | g.222232209T>A | CA351112642 | PAX3 | c.661A>T (p.Arg221Ter) n.475A>T c.658A>T (p.Arg220Ter) c.805A>T (p.Arg269Ter) c.97A>T (p.Arg33Ter) n.287+10239T>A | |
2 | g.222232209T>C | CA351112643 | PAX3 | c.661A>G (p.Arg221Gly) n.475A>G c.658A>G (p.Arg220Gly) c.805A>G (p.Arg269Gly) c.97A>G (p.Arg33Gly) n.287+10239T>C | |
2 | g.222232209T>G | CA431575661 | PAX3 | c.661A>C (p.Arg221=) n.475A>C c.658A>C (p.Arg220=) c.805A>C (p.Arg269=) c.97A>C (p.Arg33=) n.287+10239T>G | |
2 | g.222232210G>A | CA431575663 | PAX3 | c.660C>T (p.Arg220=) n.474C>T c.657C>T (p.Arg219=) c.804C>T (p.Arg268=) c.96C>T (p.Arg32=) n.287+10240G>A | |
2 | g.222232210G>C | CA431575662 | PAX3 | c.660C>G (p.Arg220=) n.474C>G c.657C>G (p.Arg219=) c.804C>G (p.Arg268=) c.96C>G (p.Arg32=) n.287+10240G>C | |
2 | g.222232210G>T | CA431575664 | PAX3 | c.660C>A (p.Arg220=) n.474C>A c.657C>A (p.Arg219=) c.804C>A (p.Arg268=) c.96C>A (p.Arg32=) n.287+10240G>T | |
2 | g.222232211C>A | CA351112646 | PAX3 | c.659G>T (p.Arg220Leu) n.473G>T c.656G>T (p.Arg219Leu) c.803G>T (p.Arg268Leu) c.95G>T (p.Arg32Leu) n.287+10241C>A | |
2 | g.222232211C>G | CA351112648 | PAX3 | c.659G>C (p.Arg220Pro) n.473G>C c.656G>C (p.Arg219Pro) c.803G>C (p.Arg268Pro) c.95G>C (p.Arg32Pro) n.287+10241C>G | |
2 | g.222232211C>T | CA351112650 | PAX3 | c.659G>A (p.Arg220His) n.473G>A c.656G>A (p.Arg219His) c.803G>A (p.Arg268His) c.95G>A (p.Arg32His) n.287+10241C>T | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.222232212G>A | CA66333344 | PAX3 | c.658C>T (p.Arg220Cys) n.472C>T c.655C>T (p.Arg219Cys) c.802C>T (p.Arg268Cys) c.94C>T (p.Arg32Cys) n.287+10242G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.222232212G>C | CA351112651 | PAX3 | c.658C>G (p.Arg220Gly) n.472C>G c.655C>G (p.Arg219Gly) c.802C>G (p.Arg268Gly) c.94C>G (p.Arg32Gly) n.287+10242G>C | |
2 | g.222232212G= | CA1330516252 | PAX3 | c.658C= (p.Arg220=) n.472C= c.655C= (p.Arg219=) c.802C= (p.Arg268=) c.94C= (p.Arg32=) n.287+10242G= | |
2 | g.222232212G>T | CA351112653 | PAX3 | c.658C>A (p.Arg220Ser) n.472C>A c.655C>A (p.Arg219Ser) c.802C>A (p.Arg268Ser) c.94C>A (p.Arg32Ser) n.287+10242G>T | ClinVar dbSNP |
2 | g.222232213C>A | CA351112656 | PAX3 | c.657G>T (p.Gln219His) n.471G>T c.654G>T (p.Gln218His) c.801G>T (p.Gln267His) c.93G>T (p.Gln31His) n.287+10243C>A | |
2 | g.222232213C>G | CA351112658 | PAX3 | c.657G>C (p.Gln219His) n.471G>C c.654G>C (p.Gln218His) c.801G>C (p.Gln267His) c.93G>C (p.Gln31His) n.287+10243C>G | |
2 | g.222232213C>T | CA431575665 | PAX3 | c.657G>A (p.Gln219=) n.471G>A c.654G>A (p.Gln218=) c.801G>A (p.Gln267=) c.93G>A (p.Gln31=) n.287+10243C>T | |
2 | g.222232214T>A | CA351112661 | PAX3 | c.656A>T (p.Gln219Leu) n.470A>T c.653A>T (p.Gln218Leu) c.800A>T (p.Gln267Leu) c.92A>T (p.Gln31Leu) n.287+10244T>A | |
2 | g.222232214T>C | CA351112662 | PAX3 | c.656A>G (p.Gln219Arg) n.470A>G c.653A>G (p.Gln218Arg) c.800A>G (p.Gln267Arg) c.92A>G (p.Gln31Arg) n.287+10244T>C | |
2 | g.222232214T>G | CA351112663 | PAX3 | c.656A>C (p.Gln219Pro) n.470A>C c.653A>C (p.Gln218Pro) c.800A>C (p.Gln267Pro) c.92A>C (p.Gln31Pro) n.287+10244T>G | |
2 | g.222232215G>A | CA351112666 | PAX3 | c.655C>T (p.Gln219Ter) n.469C>T c.652C>T (p.Gln218Ter) c.799C>T (p.Gln267Ter) c.91C>T (p.Gln31Ter) n.287+10245G>A | |
2 | g.222232215G>C | CA351112667 | PAX3 | c.655C>G (p.Gln219Glu) n.469C>G c.652C>G (p.Gln218Glu) c.799C>G (p.Gln267Glu) c.91C>G (p.Gln31Glu) n.287+10245G>C | dbSNP |
2 | g.222232215G= | CA1330516253 | PAX3 | c.655C= (p.Gln219=) n.469C= c.652C= (p.Gln218=) c.799C= (p.Gln267=) c.91C= (p.Gln31=) n.287+10245G= | |
2 | g.222232215G>T | CA351112669 | PAX3 | c.655C>A (p.Gln219Lys) n.469C>A c.652C>A (p.Gln218Lys) c.799C>A (p.Gln267Lys) c.91C>A (p.Gln31Lys) n.287+10245G>T | |
2 | g.222232216T>A | CA351112672 | PAX3 | c.654A>T (p.Lys218Asn) n.468A>T c.651A>T (p.Lys217Asn) c.798A>T (p.Lys266Asn) c.90A>T (p.Lys30Asn) n.287+10246T>A | |
2 | g.222232216T>C | CA431575666 | PAX3 | c.654A>G (p.Lys218=) n.468A>G c.651A>G (p.Lys217=) c.798A>G (p.Lys266=) c.90A>G (p.Lys30=) n.287+10246T>C | |
2 | g.222232216T>G | CA351112674 | PAX3 | c.654A>C (p.Lys218Asn) n.468A>C c.651A>C (p.Lys217Asn) c.798A>C (p.Lys266Asn) c.90A>C (p.Lys30Asn) n.287+10246T>G | |
2 | g.222232217T>A | CA351112676 | PAX3 | c.653A>T (p.Lys218Ile) n.467A>T c.650A>T (p.Lys217Ile) c.797A>T (p.Lys266Ile) c.89A>T (p.Lys30Ile) n.287+10247T>A | |
2 | g.222232217T>C | CA351112678 | PAX3 | c.653A>G (p.Lys218Arg) n.467A>G c.650A>G (p.Lys217Arg) c.797A>G (p.Lys266Arg) c.89A>G (p.Lys30Arg) n.287+10247T>C | |
2 | g.222232217T>G | CA351112680 | PAX3 | c.653A>C (p.Lys218Thr) n.467A>C c.650A>C (p.Lys217Thr) c.797A>C (p.Lys266Thr) c.89A>C (p.Lys30Thr) n.287+10247T>G | |
2 | g.222232218T>A | CA351112687 | PAX3 | c.652A>T (p.Lys218Ter) n.466A>T c.649A>T (p.Lys217Ter) c.796A>T (p.Lys266Ter) c.88A>T (p.Lys30Ter) n.287+10248T>A | |
2 | g.222232218T>C | CA351112685 | PAX3 | c.652A>G (p.Lys218Glu) n.466A>G c.649A>G (p.Lys217Glu) c.796A>G (p.Lys266Glu) c.88A>G (p.Lys30Glu) n.287+10248T>C | |
2 | g.222232218T>G | CA351112683 | PAX3 | c.652A>C (p.Lys218Gln) n.466A>C c.649A>C (p.Lys217Gln) c.796A>C (p.Lys266Gln) c.88A>C (p.Lys30Gln) n.287+10248T>G | dbSNP |
2 | g.222232218T= | CA1330516254 | PAX3 | c.652A= (p.Lys218=) n.466A= c.649A= (p.Lys217=) c.796A= (p.Lys266=) c.88A= (p.Lys30=) n.287+10248T= | |
2 | g.222232219C>A | CA351112689 | PAX3 | c.651G>T (p.Arg217Ser) n.465G>T c.648G>T (p.Arg216Ser) c.795G>T (p.Arg265Ser) c.87G>T (p.Arg29Ser) n.287+10249C>A | |
2 | g.222232219C>G | CA351112690 | PAX3 | c.651G>C (p.Arg217Ser) n.465G>C c.648G>C (p.Arg216Ser) c.795G>C (p.Arg265Ser) c.87G>C (p.Arg29Ser) n.287+10249C>G | |
2 | g.222232219C>T | CA431575667 | PAX3 | c.651G>A (p.Arg217=) n.465G>A c.648G>A (p.Arg216=) c.795G>A (p.Arg265=) c.87G>A (p.Arg29=) n.287+10249C>T | |
2 | g.222232220C>A | CA351112692 | PAX3 | c.650G>T (p.Arg217Met) n.464G>T c.647G>T (p.Arg216Met) c.794G>T (p.Arg265Met) c.86G>T (p.Arg29Met) n.287+10250C>A | |
2 | g.222232220C= | CA1330516255 | PAX3 | c.650G= (p.Arg217=) n.464G= c.647G= (p.Arg216=) c.794G= (p.Arg265=) c.86G= (p.Arg29=) n.287+10250C= | |
2 | g.222232220C>G | CA351112694 | PAX3 | c.650G>C (p.Arg217Thr) n.464G>C c.647G>C (p.Arg216Thr) c.794G>C (p.Arg265Thr) c.86G>C (p.Arg29Thr) n.287+10250C>G | |
2 | g.222232220C>T | CA351112696 | PAX3 | c.650G>A (p.Arg217Lys) n.464G>A c.647G>A (p.Arg216Lys) c.794G>A (p.Arg265Lys) c.86G>A (p.Arg29Lys) n.287+10250C>T | dbSNP gnomAD v4 |
2 | g.222232221T>A | CA351112698 | PAX3 | c.649A>T (p.Arg217Trp) n.463A>T c.646A>T (p.Arg216Trp) c.793A>T (p.Arg265Trp) c.85A>T (p.Arg29Trp) n.287+10251T>A | |
2 | g.222232221T>C | CA351112700 | PAX3 | c.649A>G (p.Arg217Gly) n.463A>G c.646A>G (p.Arg216Gly) c.793A>G (p.Arg265Gly) c.85A>G (p.Arg29Gly) n.287+10251T>C | |
2 | g.222232221T>G | CA431575668 | PAX3 | c.649A>C (p.Arg217=) n.463A>C c.646A>C (p.Arg216=) c.793A>C (p.Arg265=) c.85A>C (p.Arg29=) n.287+10251T>G | |
2 | g.222232222C>A | CA351112701 | PAX3 | c.648G>T (p.Lys216Asn) n.462G>T c.645G>T (p.Lys215Asn) c.792G>T (p.Lys264Asn) c.84G>T (p.Lys28Asn) n.287+10252C>A | |
2 | g.222232222C= | CA1330516256 | PAX3 | c.648G= (p.Lys216=) n.462G= c.645G= (p.Lys215=) c.792G= (p.Lys264=) c.84G= (p.Lys28=) n.287+10252C= | |
2 | g.222232222C>G | CA351112702 | PAX3 | c.648G>C (p.Lys216Asn) n.462G>C c.645G>C (p.Lys215Asn) c.792G>C (p.Lys264Asn) c.84G>C (p.Lys28Asn) n.287+10252C>G | |
2 | g.222232222C>T | CA2135603 | PAX3 | c.648G>A (p.Lys216=) n.462G>A c.645G>A (p.Lys215=) c.792G>A (p.Lys264=) c.84G>A (p.Lys28=) n.287+10252C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232223T>A | CA351112706 | PAX3 | c.647A>T (p.Lys216Met) n.461A>T c.644A>T (p.Lys215Met) c.791A>T (p.Lys264Met) c.83A>T (p.Lys28Met) n.287+10253T>A | |
2 | g.222232223T>C | CA351112707 | PAX3 | c.647A>G (p.Lys216Arg) n.461A>G c.644A>G (p.Lys215Arg) c.791A>G (p.Lys264Arg) c.83A>G (p.Lys28Arg) n.287+10253T>C | |
2 | g.222232223T>G | CA351112709 | PAX3 | c.647A>C (p.Lys216Thr) n.461A>C c.644A>C (p.Lys215Thr) c.791A>C (p.Lys264Thr) c.83A>C (p.Lys28Thr) n.287+10253T>G | |
2 | g.222232224T>A | CA351112714 | PAX3 | c.646A>T (p.Lys216Ter) n.460A>T c.643A>T (p.Lys215Ter) c.790A>T (p.Lys264Ter) c.82A>T (p.Lys28Ter) n.287+10254T>A | |
2 | g.222232224T>C | CA351112713 | PAX3 | c.646A>G (p.Lys216Glu) n.460A>G c.643A>G (p.Lys215Glu) c.790A>G (p.Lys264Glu) c.82A>G (p.Lys28Glu) n.287+10254T>C | |
2 | g.222232224T>G | CA351112711 | PAX3 | c.646A>C (p.Lys216Gln) n.460A>C c.643A>C (p.Lys215Gln) c.790A>C (p.Lys264Gln) c.82A>C (p.Lys28Gln) n.287+10254T>G | |
2 | g.222232225T>A | CA431575669 | PAX3 | c.645A>T (p.Leu215=) n.459A>T c.642A>T (p.Leu214=) c.789A>T (p.Leu263=) c.81A>T (p.Leu27=) n.287+10255T>A | |
2 | g.222232225T>C | CA431575670 | PAX3 | c.645A>G (p.Leu215=) n.459A>G c.642A>G (p.Leu214=) c.789A>G (p.Leu263=) c.81A>G (p.Leu27=) n.287+10255T>C | gnomAD v4 |
2 | g.222232225T>G | CA431575671 | PAX3 | c.645A>C (p.Leu215=) n.459A>C c.642A>C (p.Leu214=) c.789A>C (p.Leu263=) c.81A>C (p.Leu27=) n.287+10255T>G | |
2 | g.222232226A= | CA1330516257 | PAX3 | c.644T= (p.Leu215=) n.458T= c.641T= (p.Leu214=) c.788T= (p.Leu263=) c.80T= (p.Leu27=) n.287+10256A= | |
2 | g.222232226A>C | CA351112716 | PAX3 | c.644T>G (p.Leu215Arg) n.458T>G c.641T>G (p.Leu214Arg) c.788T>G (p.Leu263Arg) c.80T>G (p.Leu27Arg) n.287+10256A>C | gnomAD v4 |
2 | g.222232226A>G | CA351112718 | PAX3 | c.644T>C (p.Leu215Pro) n.458T>C c.641T>C (p.Leu214Pro) c.788T>C (p.Leu263Pro) c.80T>C (p.Leu27Pro) n.287+10256A>G | dbSNP gnomAD v4 |
2 | g.222232226A>T | CA351112719 | PAX3 | c.644T>A (p.Leu215Gln) n.458T>A c.641T>A (p.Leu214Gln) c.788T>A (p.Leu263Gln) c.80T>A (p.Leu27Gln) n.287+10256A>T | |
2 | g.222232227G>A | CA431575672 | PAX3 | c.643C>T (p.Leu215=) n.457C>T c.640C>T (p.Leu214=) c.787C>T (p.Leu263=) c.79C>T (p.Leu27=) n.287+10257G>A | gnomAD v4 |
2 | g.222232227G>C | CA351112722 | PAX3 | c.643C>G (p.Leu215Val) n.457C>G c.640C>G (p.Leu214Val) c.787C>G (p.Leu263Val) c.79C>G (p.Leu27Val) n.287+10257G>C | gnomAD v4 |
2 | g.222232227G>T | CA351112724 | PAX3 | c.643C>A (p.Leu215Ile) n.457C>A c.640C>A (p.Leu214Ile) c.787C>A (p.Leu263Ile) c.79C>A (p.Leu27Ile) n.287+10257G>T | |
2 | g.222232228T>A | CA431575673 | PAX3 | c.642A>T (p.Pro214=) n.456A>T c.639A>T (p.Pro213=) c.786A>T (p.Pro262=) c.78A>T (p.Pro26=) n.287+10258T>A | |
2 | g.222232228T>C | CA431575674 | PAX3 | c.642A>G (p.Pro214=) n.456A>G c.639A>G (p.Pro213=) c.786A>G (p.Pro262=) c.78A>G (p.Pro26=) n.287+10258T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232228T>G | CA431575675 | PAX3 | c.642A>C (p.Pro214=) n.456A>C c.639A>C (p.Pro213=) c.786A>C (p.Pro262=) c.78A>C (p.Pro26=) n.287+10258T>G | |
2 | g.222232228T= | CA1330516258 | PAX3 | c.642A= (p.Pro214=) n.456A= c.639A= (p.Pro213=) c.786A= (p.Pro262=) c.78A= (p.Pro26=) n.287+10258T= | |
2 | g.222232229G>A | CA351112726 | PAX3 | c.641C>T (p.Pro214Leu) n.455C>T c.638C>T (p.Pro213Leu) c.785C>T (p.Pro262Leu) c.77C>T (p.Pro26Leu) n.287+10259G>A | gnomAD v4 |
2 | g.222232229G>C | CA351112727 | PAX3 | c.641C>G (p.Pro214Arg) n.455C>G c.638C>G (p.Pro213Arg) c.785C>G (p.Pro262Arg) c.77C>G (p.Pro26Arg) n.287+10259G>C | |
2 | g.222232229G>T | CA351112729 | PAX3 | c.641C>A (p.Pro214Gln) n.455C>A c.638C>A (p.Pro213Gln) c.785C>A (p.Pro262Gln) c.77C>A (p.Pro26Gln) n.287+10259G>T | |
2 | g.222232230G>A | CA351112731 | PAX3 | c.640C>T (p.Pro214Ser) n.454C>T c.637C>T (p.Pro213Ser) c.784C>T (p.Pro262Ser) c.76C>T (p.Pro26Ser) n.287+10260G>A | |
2 | g.222232230G>C | CA351112733 | PAX3 | c.640C>G (p.Pro214Ala) n.454C>G c.637C>G (p.Pro213Ala) c.784C>G (p.Pro262Ala) c.76C>G (p.Pro26Ala) n.287+10260G>C | |
2 | g.222232230G>T | CA351112734 | PAX3 | c.640C>A (p.Pro214Thr) n.454C>A c.637C>A (p.Pro213Thr) c.784C>A (p.Pro262Thr) c.76C>A (p.Pro26Thr) n.287+10260G>T | |
2 | g.222232231T>A | CA351112736 | PAX3 | c.639A>T (p.Leu213Phe) n.453A>T c.636A>T (p.Leu212Phe) c.783A>T (p.Leu261Phe) c.75A>T (p.Leu25Phe) n.287+10261T>A | |
2 | g.222232231T>C | CA431575676 | PAX3 | c.639A>G (p.Leu213=) n.453A>G c.636A>G (p.Leu212=) c.783A>G (p.Leu261=) c.75A>G (p.Leu25=) n.287+10261T>C | |
2 | g.222232231T>G | CA351112738 | PAX3 | c.639A>C (p.Leu213Phe) n.453A>C c.636A>C (p.Leu212Phe) c.783A>C (p.Leu261Phe) c.75A>C (p.Leu25Phe) n.287+10261T>G | |
2 | g.222232232A>C | CA351112743 | PAX3 | c.638T>G (p.Leu213Ter) n.452T>G c.635T>G (p.Leu212Ter) c.782T>G (p.Leu261Ter) c.74T>G (p.Leu25Ter) n.287+10262A>C | |
2 | g.222232232A>G | CA351112742 | PAX3 | c.638T>C (p.Leu213Ser) n.452T>C c.635T>C (p.Leu212Ser) c.782T>C (p.Leu261Ser) c.74T>C (p.Leu25Ser) n.287+10262A>G | gnomAD v4 |
2 | g.222232232A>T | CA351112741 | PAX3 | c.638T>A (p.Leu213Ter) n.452T>A c.635T>A (p.Leu212Ter) c.782T>A (p.Leu261Ter) c.74T>A (p.Leu25Ter) n.287+10262A>T | |
2 | g.222232233A= | CA1330516259 | PAX3 | c.637T= (p.Leu213=) n.451T= c.634T= (p.Leu212=) c.781T= (p.Leu261=) c.73T= (p.Leu25=) n.287+10263A= | |
2 | g.222232233A>C | CA351112746 | PAX3 | c.637T>G (p.Leu213Val) n.451T>G c.634T>G (p.Leu212Val) c.781T>G (p.Leu261Val) c.73T>G (p.Leu25Val) n.287+10263A>C | |
2 | g.222232233A>G | CA431575677 | PAX3 | c.637T>C (p.Leu213=) n.451T>C c.634T>C (p.Leu212=) c.781T>C (p.Leu261=) c.73T>C (p.Leu25=) n.287+10263A>G | |
2 | g.222232233A>T | CA351112748 | PAX3 | c.637T>A (p.Leu213Ile) n.451T>A c.634T>A (p.Leu212Ile) c.781T>A (p.Leu261Ile) c.73T>A (p.Leu25Ile) n.287+10263A>T | dbSNP |
2 | g.222232234A>C | CA351112750 | PAX3 | c.636T>G (p.Asp212Glu) n.450T>G c.633T>G (p.Asp211Glu) c.780T>G (p.Asp260Glu) c.72T>G (p.Asp24Glu) n.287+10264A>C | |
2 | g.222232234A>G | CA431575678 | PAX3 | c.636T>C (p.Asp212=) n.450T>C c.633T>C (p.Asp211=) c.780T>C (p.Asp260=) c.72T>C (p.Asp24=) n.287+10264A>G | |
2 | g.222232234A>T | CA351112752 | PAX3 | c.636T>A (p.Asp212Glu) n.450T>A c.633T>A (p.Asp211Glu) c.780T>A (p.Asp260Glu) c.72T>A (p.Asp24Glu) n.287+10264A>T | |
2 | g.222232235T>A | CA351112754 | PAX3 | c.635A>T (p.Asp212Val) n.449A>T c.632A>T (p.Asp211Val) c.779A>T (p.Asp260Val) c.71A>T (p.Asp24Val) n.287+10265T>A | |
2 | g.222232235T>C | CA351112756 | PAX3 | c.635A>G (p.Asp212Gly) n.449A>G c.632A>G (p.Asp211Gly) c.779A>G (p.Asp260Gly) c.71A>G (p.Asp24Gly) n.287+10265T>C | gnomAD v4 |
2 | g.222232235T>G | CA351112758 | PAX3 | c.635A>C (p.Asp212Ala) n.449A>C c.632A>C (p.Asp211Ala) c.779A>C (p.Asp260Ala) c.71A>C (p.Asp24Ala) n.287+10265T>G | |
2 | g.222232236C>A | CA351112760 | PAX3 | c.634G>T (p.Asp212Tyr) n.448G>T c.631G>T (p.Asp211Tyr) c.778G>T (p.Asp260Tyr) c.70G>T (p.Asp24Tyr) n.287+10266C>A | |
2 | g.222232236C>G | CA351112761 | PAX3 | c.634G>C (p.Asp212His) n.448G>C c.631G>C (p.Asp211His) c.778G>C (p.Asp260His) c.70G>C (p.Asp24His) n.287+10266C>G | |
2 | g.222232236C>T | CA351112763 | PAX3 | c.634G>A (p.Asp212Asn) n.448G>A c.631G>A (p.Asp211Asn) c.778G>A (p.Asp260Asn) c.70G>A (p.Asp24Asn) n.287+10266C>T | |
2 | g.222232237T>A | CA431575679 | PAX3 | c.633A>T (p.Pro211=) n.447A>T c.630A>T (p.Pro210=) c.777A>T (p.Pro259=) c.69A>T (p.Pro23=) n.287+10267T>A | gnomAD v4 |
2 | g.222232237T>C | CA2135604 | PAX3 | c.633A>G (p.Pro211=) n.447A>G c.630A>G (p.Pro210=) c.777A>G (p.Pro259=) c.69A>G (p.Pro23=) n.287+10267T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.222232237T>G | CA431575680 | PAX3 | c.633A>C (p.Pro211=) n.447A>C c.630A>C (p.Pro210=) c.777A>C (p.Pro259=) c.69A>C (p.Pro23=) n.287+10267T>G | |
2 | g.222232237T= | CA1330516260 | PAX3 | c.633A= (p.Pro211=) n.447A= c.630A= (p.Pro210=) c.777A= (p.Pro259=) c.69A= (p.Pro23=) n.287+10267T= | |
2 | g.222232238G>A | CA351112766 | PAX3 | c.632C>T (p.Pro211Leu) n.446C>T c.629C>T (p.Pro210Leu) c.776C>T (p.Pro259Leu) c.68C>T (p.Pro23Leu) n.287+10268G>A | |
2 | g.222232238G>C | CA351112768 | PAX3 | c.632C>G (p.Pro211Arg) n.446C>G c.629C>G (p.Pro210Arg) c.776C>G (p.Pro259Arg) c.68C>G (p.Pro23Arg) n.287+10268G>C | |
2 | g.222232238G>T | CA351112769 | PAX3 | c.632C>A (p.Pro211Gln) n.446C>A c.629C>A (p.Pro210Gln) c.776C>A (p.Pro259Gln) c.68C>A (p.Pro23Gln) n.287+10268G>T | |
2 | g.222232239G>A | CA351112775 | PAX3 | c.631C>T (p.Pro211Ser) n.445C>T c.628C>T (p.Pro210Ser) c.775C>T (p.Pro259Ser) c.67C>T (p.Pro23Ser) n.287+10269G>A | gnomAD v4 |
2 | g.222232239G>C | CA351112773 | PAX3 | c.631C>G (p.Pro211Ala) n.445C>G c.628C>G (p.Pro210Ala) c.775C>G (p.Pro259Ala) c.67C>G (p.Pro23Ala) n.287+10269G>C | |
2 | g.222232239G>T | CA351112772 | PAX3 | c.631C>A (p.Pro211Thr) n.445C>A c.628C>A (p.Pro210Thr) c.775C>A (p.Pro259Thr) c.67C>A (p.Pro23Thr) n.287+10269G>T | |
2 | g.222232240T>A | CA351112777 | PAX3 | c.630A>T (p.Glu210Asp) n.444A>T c.627A>T (p.Glu209Asp) c.774A>T (p.Glu258Asp) c.66A>T (p.Glu22Asp) n.287+10270T>A | |
2 | g.222232240T>C | CA431575681 | PAX3 | c.630A>G (p.Glu210=) n.444A>G c.627A>G (p.Glu209=) c.774A>G (p.Glu258=) c.66A>G (p.Glu22=) n.287+10270T>C | |
2 | g.222232240T>G | CA351112779 | PAX3 | c.630A>C (p.Glu210Asp) n.444A>C c.627A>C (p.Glu209Asp) c.774A>C (p.Glu258Asp) c.66A>C (p.Glu22Asp) n.287+10270T>G | |
2 | g.222232241T>A | CA351112781 | PAX3 | c.629A>T (p.Glu210Val) n.443A>T c.626A>T (p.Glu209Val) c.773A>T (p.Glu258Val) c.65A>T (p.Glu22Val) n.287+10271T>A | |
2 | g.222232241T>C | CA351112786 | PAX3 | c.629A>G (p.Glu210Gly) n.443A>G c.626A>G (p.Glu209Gly) c.773A>G (p.Glu258Gly) c.65A>G (p.Glu22Gly) n.287+10271T>C | |
2 | g.222232241T>G | CA351112787 | PAX3 | c.629A>C (p.Glu210Ala) n.443A>C c.626A>C (p.Glu209Ala) c.773A>C (p.Glu258Ala) c.65A>C (p.Glu22Ala) n.287+10271T>G | |
2 | g.222232242C>A | CA351112790 | PAX3 | c.628G>T (p.Glu210Ter) n.442G>T c.625G>T (p.Glu209Ter) c.772G>T (p.Glu258Ter) c.64G>T (p.Glu22Ter) n.287+10272C>A | |
2 | g.222232242C>G | CA351112792 | PAX3 | c.628G>C (p.Glu210Gln) n.442G>C c.625G>C (p.Glu209Gln) c.772G>C (p.Glu258Gln) c.64G>C (p.Glu22Gln) n.287+10272C>G | |
2 | g.222232242C>T | CA351112794 | PAX3 | c.628G>A (p.Glu210Lys) n.442G>A c.625G>A (p.Glu209Lys) c.772G>A (p.Glu258Lys) c.64G>A (p.Glu22Lys) n.287+10272C>T | |
2 | g.222232243A= | CA1330516261 | PAX3 | c.627T= (p.Ser209=) n.441T= c.624T= (p.Ser208=) c.771T= (p.Ser257=) c.63T= (p.Ser21=) n.287+10273A= | |
2 | g.222232243A>C | CA2135605 | PAX3 | c.627T>G (p.Ser209=) n.441T>G c.624T>G (p.Ser208=) c.771T>G (p.Ser257=) c.63T>G (p.Ser21=) n.287+10273A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222232243A>G | CA431575682 | PAX3 | c.627T>C (p.Ser209=) n.441T>C c.624T>C (p.Ser208=) c.771T>C (p.Ser257=) c.63T>C (p.Ser21=) n.287+10273A>G | dbSNP |
2 | g.222232243A>T | CA431575683 | PAX3 | c.627T>A (p.Ser209=) n.441T>A c.624T>A (p.Ser208=) c.771T>A (p.Ser257=) c.63T>A (p.Ser21=) n.287+10273A>T | |
2 | g.222232245_222232246del | CA2586971446 | PAX3 | c.626_627del (p.Ser209Ter) n.440_441del c.623_624del (p.Ser208Ter) c.770_771del (p.Ser257Ter) c.62_63del (p.Ser21Ter) n.287+10275_287+10276del | |
2 | g.222232244G>A | CA351112798 | PAX3 | c.626C>T (p.Ser209Phe) n.440C>T c.623C>T (p.Ser208Phe) c.770C>T (p.Ser257Phe) c.62C>T (p.Ser21Phe) n.287+10274G>A | gnomAD v4 |
2 | g.222232244G>C | CA351112800 | PAX3 | c.626C>G (p.Ser209Cys) n.440C>G c.623C>G (p.Ser208Cys) c.770C>G (p.Ser257Cys) c.62C>G (p.Ser21Cys) n.287+10274G>C | |
2 | g.222232244G>T | CA351112802 | PAX3 | c.626C>A (p.Ser209Tyr) n.440C>A c.623C>A (p.Ser208Tyr) c.770C>A (p.Ser257Tyr) c.62C>A (p.Ser21Tyr) n.287+10274G>T | |
2 | g.222232245A>C | CA351112807 | PAX3 | c.625T>G (p.Ser209Ala) n.439T>G c.622T>G (p.Ser208Ala) c.769T>G (p.Ser257Ala) c.61T>G (p.Ser21Ala) n.287+10275A>C | |
2 | g.222232245A>G | CA351112805 | PAX3 | c.625T>C (p.Ser209Pro) n.439T>C c.622T>C (p.Ser208Pro) c.769T>C (p.Ser257Pro) c.61T>C (p.Ser21Pro) n.287+10275A>G | |
2 | g.222232245A>T | CA351112804 | PAX3 | c.625T>A (p.Ser209Thr) n.439T>A c.622T>A (p.Ser208Thr) c.769T>A (p.Ser257Thr) c.61T>A (p.Ser21Thr) n.287+10275A>T | |
2 | g.222232246G>A | CA2135606 | PAX3 | c.624C>T (p.Asp208=) n.438C>T c.621C>T (p.Asp207=) c.768C>T (p.Asp256=) c.60C>T (p.Asp20=) n.287+10276G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232246G>C | CA351112809 | PAX3 | c.624C>G (p.Asp208Glu) n.438C>G c.621C>G (p.Asp207Glu) c.768C>G (p.Asp256Glu) c.60C>G (p.Asp20Glu) n.287+10276G>C | |
2 | g.222232246G= | CA1330516262 | PAX3 | c.624C= (p.Asp208=) n.438C= c.621C= (p.Asp207=) c.768C= (p.Asp256=) c.60C= (p.Asp20=) n.287+10276G= | |
2 | g.222232246G>T | CA351112810 | PAX3 | c.624C>A (p.Asp208Glu) n.438C>A c.621C>A (p.Asp207Glu) c.768C>A (p.Asp256Glu) c.60C>A (p.Asp20Glu) n.287+10276G>T | |
2 | g.222232247T>A | CA351112813 | PAX3 | c.623A>T (p.Asp208Val) n.437A>T c.620A>T (p.Asp207Val) c.767A>T (p.Asp256Val) c.59A>T (p.Asp20Val) n.287+10277T>A | |
2 | g.222232247T>C | CA351112815 | PAX3 | c.623A>G (p.Asp208Gly) n.437A>G c.620A>G (p.Asp207Gly) c.767A>G (p.Asp256Gly) c.59A>G (p.Asp20Gly) n.287+10277T>C | |
2 | g.222232247T>G | CA351112816 | PAX3 | c.623A>C (p.Asp208Ala) n.437A>C c.620A>C (p.Asp207Ala) c.767A>C (p.Asp256Ala) c.59A>C (p.Asp20Ala) n.287+10277T>G | |
2 | g.222232248C>A | CA351112819 | PAX3 | c.622G>T (p.Asp208Tyr) n.436G>T c.619G>T (p.Asp207Tyr) c.766G>T (p.Asp256Tyr) c.58G>T (p.Asp20Tyr) n.287+10278C>A | gnomAD v4 |
2 | g.222232248C>G | CA351112820 | PAX3 | c.622G>C (p.Asp208His) n.436G>C c.619G>C (p.Asp207His) c.766G>C (p.Asp256His) c.58G>C (p.Asp20His) n.287+10278C>G | |
2 | g.222232248C>T | CA351112822 | PAX3 | c.622G>A (p.Asp208Asn) n.436G>A c.619G>A (p.Asp207Asn) c.766G>A (p.Asp256Asn) c.58G>A (p.Asp20Asn) n.287+10278C>T | |
2 | g.222232249A>C | CA351112824 | PAX3 | c.621T>G (p.Ile207Met) n.435T>G c.618T>G (p.Ile206Met) c.765T>G (p.Ile255Met) c.57T>G (p.Ile19Met) n.287+10279A>C | |
2 | g.222232249A>G | CA431575684 | PAX3 | c.621T>C (p.Ile207=) n.435T>C c.618T>C (p.Ile206=) c.765T>C (p.Ile255=) c.57T>C (p.Ile19=) n.287+10279A>G | gnomAD v4 |
2 | g.222232249A>T | CA431575685 | PAX3 | c.621T>A (p.Ile207=) n.435T>A c.618T>A (p.Ile206=) c.765T>A (p.Ile255=) c.57T>A (p.Ile19=) n.287+10279A>T | |
2 | g.222232250A= | CA1330516263 | PAX3 | c.620T= (p.Ile207=) n.434T= c.617T= (p.Ile206=) c.764T= (p.Ile255=) c.56T= (p.Ile19=) n.287+10280A= | |
2 | g.222232250A>C | CA351112826 | PAX3 | c.620T>G (p.Ile207Ser) n.434T>G c.617T>G (p.Ile206Ser) c.764T>G (p.Ile255Ser) c.56T>G (p.Ile19Ser) n.287+10280A>C | |
2 | g.222232250A>G | CA2135607 | PAX3 | c.620T>C (p.Ile207Thr) n.434T>C c.617T>C (p.Ile206Thr) c.764T>C (p.Ile255Thr) c.56T>C (p.Ile19Thr) n.287+10280A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232250A>T | CA351112829 | PAX3 | c.620T>A (p.Ile207Asn) n.434T>A c.617T>A (p.Ile206Asn) c.764T>A (p.Ile255Asn) c.56T>A (p.Ile19Asn) n.287+10280A>T | |
2 | g.222232251T>A | CA351112833 | PAX3 | c.619A>T (p.Ile207Phe) n.433A>T c.616A>T (p.Ile206Phe) c.763A>T (p.Ile255Phe) c.55A>T (p.Ile19Phe) n.287+10281T>A | |
2 | g.222232251T>C | CA351112834 | PAX3 | c.619A>G (p.Ile207Val) n.433A>G c.616A>G (p.Ile206Val) c.763A>G (p.Ile255Val) c.55A>G (p.Ile19Val) n.287+10281T>C | |
2 | g.222232251T>G | CA351112831 | PAX3 | c.619A>C (p.Ile207Leu) n.433A>C c.616A>C (p.Ile206Leu) c.763A>C (p.Ile255Leu) c.55A>C (p.Ile19Leu) n.287+10281T>G | |
2 | g.222232251dup | CA915941738 | PAX3 | c.619dup (p.Ile207AsnfsTer2) n.433dup c.616dup (p.Ile206AsnfsTer2) c.763dup (p.Ile255AsnfsTer2) c.55dup (p.Ile19AsnfsTer2) n.287+10281dup | ClinVar dbSNP |
2 | g.222232252A>C | CA351112837 | PAX3 | c.618T>G (p.Asp206Glu) n.432T>G c.615T>G (p.Asp205Glu) c.762T>G (p.Asp254Glu) c.54T>G (p.Asp18Glu) n.287+10282A>C | |
2 | g.222232252A>G | CA431575686 | PAX3 | c.618T>C (p.Asp206=) n.432T>C c.615T>C (p.Asp205=) c.762T>C (p.Asp254=) c.54T>C (p.Asp18=) n.287+10282A>G | |
2 | g.222232252A>T | CA351112839 | PAX3 | c.618T>A (p.Asp206Glu) n.432T>A c.615T>A (p.Asp205Glu) c.762T>A (p.Asp254Glu) c.54T>A (p.Asp18Glu) n.287+10282A>T | |
2 | g.222232253T>A | CA351112841 | PAX3 | c.617A>T (p.Asp206Val) n.431A>T c.614A>T (p.Asp205Val) c.761A>T (p.Asp254Val) c.53A>T (p.Asp18Val) n.287+10283T>A | |
2 | g.222232253T>C | CA351112845 | PAX3 | c.617A>G (p.Asp206Gly) n.431A>G c.614A>G (p.Asp205Gly) c.761A>G (p.Asp254Gly) c.53A>G (p.Asp18Gly) n.287+10283T>C | |
2 | g.222232253T>G | CA351112843 | PAX3 | c.617A>C (p.Asp206Ala) n.431A>C c.614A>C (p.Asp205Ala) c.761A>C (p.Asp254Ala) c.53A>C (p.Asp18Ala) n.287+10283T>G | |
2 | g.222232254C>A | CA351112847 | PAX3 | c.616G>T (p.Asp206Tyr) n.430G>T c.613G>T (p.Asp205Tyr) c.760G>T (p.Asp254Tyr) c.52G>T (p.Asp18Tyr) n.287+10284C>A | |
2 | g.222232254C>G | CA351112849 | PAX3 | c.616G>C (p.Asp206His) n.430G>C c.613G>C (p.Asp205His) c.760G>C (p.Asp254His) c.52G>C (p.Asp18His) n.287+10284C>G | |
2 | g.222232254C>T | CA351112850 | PAX3 | c.616G>A (p.Asp206Asn) n.430G>A c.613G>A (p.Asp205Asn) c.760G>A (p.Asp254Asn) c.52G>A (p.Asp18Asn) n.287+10284C>T | |
2 | g.222232255A>C | CA431575687 | PAX3 | c.615T>G (p.Ser205=) n.429T>G c.612T>G (p.Ser204=) c.759T>G (p.Ser253=) c.51T>G (p.Ser17=) n.287+10285A>C | |
2 | g.222232255A>G | CA431575688 | PAX3 | c.615T>C (p.Ser205=) n.429T>C c.612T>C (p.Ser204=) c.759T>C (p.Ser253=) c.51T>C (p.Ser17=) n.287+10285A>G | |
2 | g.222232255A>T | CA431575689 | PAX3 | c.615T>A (p.Ser205=) n.429T>A c.612T>A (p.Ser204=) c.759T>A (p.Ser253=) c.51T>A (p.Ser17=) n.287+10285A>T | |
2 | g.222232257_222232258del | CA2739278468 | PAX3 | c.614_615del (p.Ser205Ter) n.428_429del c.611_612del (p.Ser204Ter) c.758_759del (p.Ser253Ter) c.50_51del (p.Ser17Ter) n.287+10287_287+10288del | ClinVar |
2 | g.222232256G>A | CA351112853 | PAX3 | c.614C>T (p.Ser205Phe) n.428C>T c.611C>T (p.Ser204Phe) c.758C>T (p.Ser253Phe) c.50C>T (p.Ser17Phe) n.287+10286G>A | |
2 | g.222232256G>C | CA351112855 | PAX3 | c.614C>G (p.Ser205Cys) n.428C>G c.611C>G (p.Ser204Cys) c.758C>G (p.Ser253Cys) c.50C>G (p.Ser17Cys) n.287+10286G>C | |
2 | g.222232256G>T | CA351112857 | PAX3 | c.614C>A (p.Ser205Tyr) n.428C>A c.611C>A (p.Ser204Tyr) c.758C>A (p.Ser253Tyr) c.50C>A (p.Ser17Tyr) n.287+10286G>T | |
2 | g.222232257A>C | CA351112860 | PAX3 | c.613T>G (p.Ser205Ala) n.427T>G c.610T>G (p.Ser204Ala) c.757T>G (p.Ser253Ala) c.49T>G (p.Ser17Ala) n.287+10287A>C | |
2 | g.222232257A>G | CA351112861 | PAX3 | c.613T>C (p.Ser205Pro) n.427T>C c.610T>C (p.Ser204Pro) c.757T>C (p.Ser253Pro) c.49T>C (p.Ser17Pro) n.287+10287A>G | |
2 | g.222232257A>T | CA351112864 | PAX3 | c.613T>A (p.Ser205Thr) n.427T>A c.610T>A (p.Ser204Thr) c.757T>A (p.Ser253Thr) c.49T>A (p.Ser17Thr) n.287+10287A>T | gnomAD v4 |
2 | g.222232258G>A | CA431575692 | PAX3 | c.612C>T (p.Gly204=) n.426C>T c.609C>T (p.Gly203=) c.756C>T (p.Gly252=) c.48C>T (p.Gly16=) n.287+10288G>A | |
2 | g.222232258G>C | CA431575690 | PAX3 | c.612C>G (p.Gly204=) n.426C>G c.609C>G (p.Gly203=) c.756C>G (p.Gly252=) c.48C>G (p.Gly16=) n.287+10288G>C | |
2 | g.222232258G>T | CA431575691 | PAX3 | c.612C>A (p.Gly204=) n.426C>A c.609C>A (p.Gly203=) c.756C>A (p.Gly252=) c.48C>A (p.Gly16=) n.287+10288G>T | |
2 | g.222232259C>A | CA2135608 | PAX3 | c.611G>T (p.Gly204Val) n.425G>T c.608G>T (p.Gly203Val) c.755G>T (p.Gly252Val) c.47G>T (p.Gly16Val) n.287+10289C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232259C= | CA1330516264 | PAX3 | c.611G= (p.Gly204=) n.425G= c.608G= (p.Gly203=) c.755G= (p.Gly252=) c.47G= (p.Gly16=) n.287+10289C= | |
2 | g.222232259C>G | CA351112866 | PAX3 | c.611G>C (p.Gly204Ala) n.425G>C c.608G>C (p.Gly203Ala) c.755G>C (p.Gly252Ala) c.47G>C (p.Gly16Ala) n.287+10289C>G | |
2 | g.222232259C>T | CA351112868 | PAX3 | c.611G>A (p.Gly204Asp) n.425G>A c.608G>A (p.Gly203Asp) c.755G>A (p.Gly252Asp) c.47G>A (p.Gly16Asp) n.287+10289C>T | gnomAD v4 |
2 | g.222232260C>A | CA351112871 | PAX3 | c.610G>T (p.Gly204Cys) n.424G>T c.607G>T (p.Gly203Cys) c.754G>T (p.Gly252Cys) c.46G>T (p.Gly16Cys) n.287+10290C>A | COSMIC COSMIC |
2 | g.222232260C= | CA1330516265 | PAX3 | c.610G= (p.Gly204=) n.424G= c.607G= (p.Gly203=) c.754G= (p.Gly252=) c.46G= (p.Gly16=) n.287+10290C= | |
2 | g.222232260C>G | CA351112875 | PAX3 | c.610G>C (p.Gly204Arg) n.424G>C c.607G>C (p.Gly203Arg) c.754G>C (p.Gly252Arg) c.46G>C (p.Gly16Arg) n.287+10290C>G | |
2 | g.222232260C>T | CA351112873 | PAX3 | c.610G>A (p.Gly204Ser) n.424G>A c.607G>A (p.Gly203Ser) c.754G>A (p.Gly252Ser) c.46G>A (p.Gly16Ser) n.287+10290C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232261T>A | CA351112877 | PAX3 | c.609A>T (p.Glu203Asp) n.423A>T c.606A>T (p.Glu202Asp) c.753A>T (p.Glu251Asp) c.45A>T (p.Glu15Asp) n.287+10291T>A | |
2 | g.222232261T>C | CA431575693 | PAX3 | c.609A>G (p.Glu203=) n.423A>G c.606A>G (p.Glu202=) c.753A>G (p.Glu251=) c.45A>G (p.Glu15=) n.287+10291T>C | |
2 | g.222232261T>G | CA351112879 | PAX3 | c.609A>C (p.Glu203Asp) n.423A>C c.606A>C (p.Glu202Asp) c.753A>C (p.Glu251Asp) c.45A>C (p.Glu15Asp) n.287+10291T>G | gnomAD v4 |
2 | g.222232262T>A | CA351112881 | PAX3 | c.608A>T (p.Glu203Val) n.422A>T c.605A>T (p.Glu202Val) c.752A>T (p.Glu251Val) c.44A>T (p.Glu15Val) n.287+10292T>A | |
2 | g.222232262T>C | CA351112882 | PAX3 | c.608A>G (p.Glu203Gly) n.422A>G c.605A>G (p.Glu202Gly) c.752A>G (p.Glu251Gly) c.44A>G (p.Glu15Gly) n.287+10292T>C | |
2 | g.222232262T>G | CA351112884 | PAX3 | c.608A>C (p.Glu203Ala) n.422A>C c.605A>C (p.Glu202Ala) c.752A>C (p.Glu251Ala) c.44A>C (p.Glu15Ala) n.287+10292T>G | COSMIC COSMIC |
2 | g.222232263C>A | CA351112886 | PAX3 | c.607G>T (p.Glu203Ter) n.421G>T c.604G>T (p.Glu202Ter) c.751G>T (p.Glu251Ter) c.43G>T (p.Glu15Ter) n.287+10293C>A | |
2 | g.222232263C>G | CA351112888 | PAX3 | c.607G>C (p.Glu203Gln) n.421G>C c.604G>C (p.Glu202Gln) c.751G>C (p.Glu251Gln) c.43G>C (p.Glu15Gln) n.287+10293C>G | |
2 | g.222232263C>T | CA351112889 | PAX3 | c.607G>A (p.Glu203Lys) n.421G>A c.604G>A (p.Glu202Lys) c.751G>A (p.Glu251Lys) c.43G>A (p.Glu15Lys) n.287+10293C>T | |
2 | g.222232264A>C | CA351112891 | PAX3 | c.606T>G (p.Asp202Glu) n.420T>G c.603T>G (p.Asp201Glu) c.750T>G (p.Asp250Glu) c.42T>G (p.Asp14Glu) n.287+10294A>C | |
2 | g.222232264A>G | CA431575694 | PAX3 | c.606T>C (p.Asp202=) n.420T>C c.603T>C (p.Asp201=) c.750T>C (p.Asp250=) c.42T>C (p.Asp14=) n.287+10294A>G | |
2 | g.222232264A>T | CA351112893 | PAX3 | c.606T>A (p.Asp202Glu) n.420T>A c.603T>A (p.Asp201Glu) c.750T>A (p.Asp250Glu) c.42T>A (p.Asp14Glu) n.287+10294A>T | |
2 | g.222232265T>A | CA351112896 | PAX3 | c.605A>T (p.Asp202Val) n.419A>T c.602A>T (p.Asp201Val) c.749A>T (p.Asp250Val) c.41A>T (p.Asp14Val) n.287+10295T>A | |
2 | g.222232265T>C | CA351112899 | PAX3 | c.605A>G (p.Asp202Gly) n.419A>G c.602A>G (p.Asp201Gly) c.749A>G (p.Asp250Gly) c.41A>G (p.Asp14Gly) n.287+10295T>C | |
2 | g.222232265T>G | CA2135609 | PAX3 | c.605A>C (p.Asp202Ala) n.419A>C c.602A>C (p.Asp201Ala) c.749A>C (p.Asp250Ala) c.41A>C (p.Asp14Ala) n.287+10295T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232265T= | CA1330516266 | PAX3 | c.605A= (p.Asp202=) n.419A= c.602A= (p.Asp201=) c.749A= (p.Asp250=) c.41A= (p.Asp14=) n.287+10295T= | |
2 | g.222232266C>A | CA351112901 | PAX3 | c.604G>T (p.Asp202Tyr) n.418G>T c.601G>T (p.Asp201Tyr) c.748G>T (p.Asp250Tyr) c.40G>T (p.Asp14Tyr) n.287+10296C>A | |
2 | g.222232266C>G | CA351112903 | PAX3 | c.604G>C (p.Asp202His) n.418G>C c.601G>C (p.Asp201His) c.748G>C (p.Asp250His) c.40G>C (p.Asp14His) n.287+10296C>G | |
2 | g.222232266C>T | CA351112905 | PAX3 | c.604G>A (p.Asp202Asn) n.418G>A c.601G>A (p.Asp201Asn) c.748G>A (p.Asp250Asn) c.40G>A (p.Asp14Asn) n.287+10296C>T | |
2 | g.222232267T>A | CA431575695 | PAX3 | c.603A>T (p.Ser201=) n.417A>T c.600A>T (p.Ser200=) c.747A>T (p.Ser249=) c.39A>T (p.Ser13=) n.287+10297T>A | |
2 | g.222232267T>C | CA431575696 | PAX3 | c.603A>G (p.Ser201=) n.417A>G c.600A>G (p.Ser200=) c.747A>G (p.Ser249=) c.39A>G (p.Ser13=) n.287+10297T>C | |
2 | g.222232267T>G | CA431575697 | PAX3 | c.603A>C (p.Ser201=) n.417A>C c.600A>C (p.Ser200=) c.747A>C (p.Ser249=) c.39A>C (p.Ser13=) n.287+10297T>G | |
2 | g.222232268G>A | CA351112906 | PAX3 | c.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 | |
2 | g.222232268G>C | CA16604154 | PAX3 | c.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 |
2 | g.222232268G= | CA1330516267 | PAX3 | c.602C= (p.Ser201=) n.416C= c.599C= (p.Ser200=) c.746C= (p.Ser249=) c.38C= (p.Ser13=) n.287+10298G= | |
2 | g.222232268G>T | CA351112907 | PAX3 | c.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 |
2 | g.222232269_222232273del | CA645509041 | PAX3 | c.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 | |
2 | g.222232269A>C | CA351112913 | PAX3 | c.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 | |
2 | g.222232269A>G | CA351112910 | PAX3 | c.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 | |
2 | g.222232269A>T | CA351112911 | PAX3 | c.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 | |
2 | g.222232270T>A | CA351112915 | PAX3 | c.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 | |
2 | g.222232270T>C | CA431575698 | PAX3 | c.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 | |
2 | g.222232270T>G | CA351112916 | PAX3 | c.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 | |
2 | g.222232271T>A | CA351112919 | PAX3 | c.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 |
2 | g.222232271T>C | CA351112921 | PAX3 | c.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 |
2 | g.222232271T>G | CA351112922 | PAX3 | c.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 |
2 | g.222232272G>A | CA351112925 | PAX3 | c.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 | |
2 | g.222232272G>C | CA351112928 | PAX3 | c.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 | |
2 | g.222232272G= | CA1330516268 | PAX3 | c.598C= (p.Gln200=) n.412C= c.595C= (p.Gln199=) c.742C= (p.Gln248=) c.34C= (p.Gln12=) n.287+10302G= | |
2 | g.222232272G>T | CA351112926 | PAX3 | c.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 |
2 | g.222232273G>A | CA431575699 | PAX3 | c.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 |
2 | g.222232273G>C | CA431575700 | PAX3 | c.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 | |
2 | g.222232273G= | CA1330516269 | PAX3 | c.597C= (p.Pro199=) n.411C= c.594C= (p.Pro198=) c.741C= (p.Pro247=) c.33C= (p.Pro11=) n.287+10303G= | |
2 | g.222232273G>T | CA431575701 | PAX3 | c.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 |
2 | g.222232274G>A | CA351112930 | PAX3 | c.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 |
2 | g.222232274G>C | CA2135610 | PAX3 | c.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 |
2 | g.222232274G= | CA1330516270 | PAX3 | c.596C= (p.Pro199=) n.410C= c.593C= (p.Pro198=) c.740C= (p.Pro247=) c.32C= (p.Pro11=) n.287+10304G= | |
2 | g.222232274G>T | CA351112932 | PAX3 | c.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 | |
2 | g.222232275G>A | CA351112935 | PAX3 | c.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 | |
2 | g.222232275G>C | CA351112936 | PAX3 | c.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 | |
2 | g.222232275G>T | CA351112938 | PAX3 | c.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 | |
2 | g.222232276T>A | CA431575702 | PAX3 | c.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 |
2 | g.222232276T>C | CA431575703 | PAX3 | c.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 | |
2 | g.222232276T>G | CA431575704 | PAX3 | c.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 | |
2 | g.222232276T= | CA1330516271 | PAX3 | c.594A= (p.Ala198=) n.408A= c.591A= (p.Ala197=) c.738A= (p.Ala246=) c.30A= (p.Ala10=) n.287+10306T= | |
2 | g.222232277G>A | CA351112939 | PAX3 | c.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 | |
2 | g.222232277G>C | CA351112941 | PAX3 | c.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 | |
2 | g.222232277G>T | CA351112943 | PAX3 | c.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 |
2 | g.222232277_222232283del | CA2586971447 | PAX3 | c.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 | |
2 | g.222232278del | CA2586971448 | PAX3 | c.592del (p.Ala198HisfsTer18) n.406del c.589del (p.Ala197HisfsTer18) c.736del (p.Ala246HisfsTer18) c.28del (p.Ala10HisfsTer18) n.287+10308del | |
2 | g.222232278C>A | CA351112945 | PAX3 | c.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 | |
2 | g.222232278C>G | CA351112947 | PAX3 | c.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 | |
2 | g.222232278C>T | CA351112949 | PAX3 | c.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 | |
2 | g.222232279T>A | CA431575705 | PAX3 | c.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 |
2 | g.222232279T>C | CA2135611 | PAX3 | c.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 |
2 | g.222232279T>G | CA431575706 | PAX3 | c.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 | |
2 | g.222232279T= | CA1330516272 | PAX3 | c.591A= (p.Ser197=) n.405A= c.588A= (p.Ser196=) c.735A= (p.Ser245=) c.27A= (p.Ser9=) n.287+10309T= | |
2 | g.222232280G>A | CA351112953 | PAX3 | c.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 |
2 | g.222232280G>C | CA351112951 | PAX3 | c.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 | |
2 | g.222232280G= | CA1330516273 | PAX3 | c.590C= (p.Ser197=) n.404C= c.587C= (p.Ser196=) c.734C= (p.Ser245=) c.26C= (p.Ser9=) n.287+10310G= | |
2 | g.222232280G>T | CA351112954 | PAX3 | c.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 | |
2 | g.222232281del | CA2586971449 | PAX3 | c.589del (p.Ser197GlnfsTer19) n.403del c.586del (p.Ser196GlnfsTer19) c.733del (p.Ser245GlnfsTer19) c.25del (p.Ser9GlnfsTer19) n.287+10311del | |
2 | g.222232281A>C | CA351112957 | PAX3 | c.589T>G (p.Ser197Ala) n.403T>G c.586T>G (p.Ser196Ala) c.733T>G (p.Ser245Ala) c.25T>G (p.Ser9Ala) n.287+10311A>C | |
2 | g.222232281A>G | CA351112958 | PAX3 | c.589T>C (p.Ser197Pro) n.403T>C c.586T>C (p.Ser196Pro) c.733T>C (p.Ser245Pro) c.25T>C (p.Ser9Pro) n.287+10311A>G | |
2 | g.222232281A>T | CA351112959 | PAX3 | c.589T>A (p.Ser197Thr) n.403T>A c.586T>A (p.Ser196Thr) c.733T>A (p.Ser245Thr) c.25T>A (p.Ser9Thr) n.287+10311A>T |