Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222296976_222297003del | CA2586971541 | PAX3 | c.297_321+3del n.678_702+3del c.441_465+3del | |
2 | g.222296998_222297005del | CA2580065794 | PAX3 | c.295_302del (p.Gly99ArgfsTer12) n.676_683del c.295_302del (p.Gly99ArgfsTer11) c.439_446del (p.Gly147ArgfsTer12) | ClinVar |
2 | g.222297003C>A | CA351113396 | PAX3 | c.296G>T (p.Gly99Val) n.677G>T c.440G>T (p.Gly147Val) | |
2 | g.222297003C= | CA1330546491 | PAX3 | c.296G= (p.Gly99=) n.677G= c.440G= (p.Gly147=) | |
2 | g.222297003C>G | CA351113397 | PAX3 | c.296G>C (p.Gly99Ala) n.677G>C c.440G>C (p.Gly147Ala) | |
2 | g.222297003C>T | CA351113398 | PAX3 | c.296G>A (p.Gly99Asp) n.677G>A c.440G>A (p.Gly147Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297004C>A | CA351113401 | PAX3 | c.295G>T (p.Gly99Cys) n.676G>T c.439G>T (p.Gly147Cys) | ClinVar |
2 | g.222297004C= | CA1330546492 | PAX3 | c.295G= (p.Gly99=) n.676G= c.439G= (p.Gly147=) | |
2 | g.222297004C>G | CA351113400 | PAX3 | c.295G>C (p.Gly99Arg) n.676G>C c.439G>C (p.Gly147Arg) | |
2 | g.222297004C>T | CA351113399 | PAX3 | c.295G>A (p.Gly99Ser) n.676G>A c.439G>A (p.Gly147Ser) | dbSNP gnomAD v2 |
2 | g.222297005A= | CA1330546493 | PAX3 | c.294T= (p.Pro98=) n.675T= c.438T= (p.Pro146=) | |
2 | g.222297005A>C | CA431575890 | PAX3 | c.294T>G (p.Pro98=) n.675T>G c.438T>G (p.Pro146=) | |
2 | g.222297005A>G | CA431575892 | PAX3 | c.294T>C (p.Pro98=) n.675T>C c.438T>C (p.Pro146=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297005A>T | CA431575891 | PAX3 | c.294T>A (p.Pro98=) n.675T>A c.438T>A (p.Pro146=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297006G>A | CA351113402 | PAX3 | c.293C>T (p.Pro98Leu) n.674C>T c.437C>T (p.Pro146Leu) | ClinVar dbSNP |
2 | g.222297006G>C | CA351113403 | PAX3 | c.293C>G (p.Pro98Arg) n.674C>G c.437C>G (p.Pro146Arg) | |
2 | g.222297006G= | CA1330546494 | PAX3 | c.293C= (p.Pro98=) n.674C= c.437C= (p.Pro146=) | |
2 | g.222297006G>T | CA351113404 | PAX3 | c.293C>A (p.Pro98His) n.674C>A c.437C>A (p.Pro146His) | |
2 | g.222297007G>A | CA351113405 | PAX3 | c.292C>T (p.Pro98Ser) n.673C>T c.436C>T (p.Pro146Ser) | |
2 | g.222297007G>C | CA351113406 | PAX3 | c.292C>G (p.Pro98Ala) n.673C>G c.436C>G (p.Pro146Ala) | |
2 | g.222297007G>T | CA351113407 | PAX3 | c.292C>A (p.Pro98Thr) n.673C>A c.436C>A (p.Pro146Thr) | |
2 | g.222297008A= | CA1330546495 | PAX3 | c.291T= (p.Arg97=) n.672T= c.435T= (p.Arg145=) | |
2 | g.222297008A>C | CA431575893 | PAX3 | c.291T>G (p.Arg97=) n.672T>G c.435T>G (p.Arg145=) | |
2 | g.222297008A>G | CA431575894 | PAX3 | c.291T>C (p.Arg97=) n.672T>C c.435T>C (p.Arg145=) | dbSNP |
2 | g.222297008A>T | CA431575895 | PAX3 | c.291T>A (p.Arg97=) n.672T>A c.435T>A (p.Arg145=) | dbSNP |
2 | g.222297008dup | CA2586971543 | PAX3 | c.291dup (p.Pro98SerfsTer16) n.672dup c.291dup (p.Pro98SerfsTer15) c.435dup (p.Pro146SerfsTer16) | |
2 | g.222297009C>A | CA351113408 | PAX3 | c.290G>T (p.Arg97Leu) n.671G>T c.434G>T (p.Arg145Leu) | |
2 | g.222297009C= | CA1330546496 | PAX3 | c.290G= (p.Arg97=) n.671G= c.434G= (p.Arg145=) | |
2 | g.222297009C>G | CA351113409 | PAX3 | c.290G>C (p.Arg97Pro) n.671G>C c.434G>C (p.Arg145Pro) | ClinVar dbSNP |
2 | g.222297009C>T | CA351113410 | PAX3 | c.290G>A (p.Arg97His) n.671G>A c.434G>A (p.Arg145His) | |
2 | g.222297010G>A | CA351113411 | PAX3 | c.289C>T (p.Arg97Cys) n.670C>T c.433C>T (p.Arg145Cys) | dbSNP gnomAD v4 |
2 | g.222297010G>C | CA351113412 | PAX3 | c.289C>G (p.Arg97Gly) n.670C>G c.433C>G (p.Arg145Gly) | |
2 | g.222297010G= | CA1330546497 | PAX3 | c.289C= (p.Arg97=) n.670C= c.433C= (p.Arg145=) | |
2 | g.222297010G>T | CA2135790 | PAX3 | c.289C>A (p.Arg97Ser) n.670C>A c.433C>A (p.Arg145Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297010_222297015dup | CA2586971544 | PAX3 | c.284_289dup (p.Ile96_Arg97insProIle) n.665_670dup c.428_433dup (p.Ile144_Arg145insProIle) | |
2 | g.222297011del | CA2580065796 | PAX3 | c.288del (p.Arg97ValfsTer13) n.669del c.288del (p.Arg97ValfsTer12) c.432del (p.Arg145ValfsTer13) | ClinVar |
2 | g.222297011T>A | CA431575896 | PAX3 | c.288A>T (p.Ile96=) n.669A>T c.432A>T (p.Ile144=) | |
2 | g.222297011T>C | CA351113413 | PAX3 | c.288A>G (p.Ile96Met) n.669A>G c.432A>G (p.Ile144Met) | |
2 | g.222297011T>G | CA431575897 | PAX3 | c.288A>C (p.Ile96=) n.669A>C c.432A>C (p.Ile144=) | |
2 | g.222297012A= | CA1330546498 | PAX3 | c.287T= (p.Ile96=) n.668T= c.431T= (p.Ile144=) | |
2 | g.222297012A>C | CA351113415 | PAX3 | c.287T>G (p.Ile96Arg) n.668T>G c.431T>G (p.Ile144Arg) | |
2 | g.222297012A>G | CA351113416 | PAX3 | c.287T>C (p.Ile96Thr) n.668T>C c.431T>C (p.Ile144Thr) | ClinVar dbSNP |
2 | g.222297012A>T | CA351113414 | PAX3 | c.287T>A (p.Ile96Lys) n.668T>A c.431T>A (p.Ile144Lys) | |
2 | g.222297013T>A | CA351113417 | PAX3 | c.286A>T (p.Ile96Leu) n.667A>T c.430A>T (p.Ile144Leu) | |
2 | g.222297013T>C | CA351113418 | PAX3 | c.286A>G (p.Ile96Val) n.667A>G c.430A>G (p.Ile144Val) | gnomAD v4 |
2 | g.222297013T>G | CA351113419 | PAX3 | c.286A>C (p.Ile96Leu) n.667A>C c.430A>C (p.Ile144Leu) | |
2 | g.222297014G>A | CA431575898 | PAX3 | c.285C>T (p.Ser95=) n.666C>T c.429C>T (p.Ser143=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297014G>C | CA431575899 | PAX3 | c.285C>G (p.Ser95=) n.666C>G c.429C>G (p.Ser143=) | gnomAD v4 |
2 | g.222297014G= | CA1330546499 | PAX3 | c.285C= (p.Ser95=) n.666C= c.429C= (p.Ser143=) | |
2 | g.222297014G>T | CA431575900 | PAX3 | c.285C>A (p.Ser95=) n.666C>A c.429C>A (p.Ser143=) | |
2 | g.222297015G>A | CA351113420 | PAX3 | c.284C>T (p.Ser95Phe) n.665C>T c.428C>T (p.Ser143Phe) | gnomAD v4 |
2 | g.222297015G>C | CA351113421 | PAX3 | c.284C>G (p.Ser95Cys) n.665C>G c.428C>G (p.Ser143Cys) | |
2 | g.222297015G>T | CA351113422 | PAX3 | c.284C>A (p.Ser95Tyr) n.665C>A c.428C>A (p.Ser143Tyr) | |
2 | g.222297016A>C | CA351113423 | PAX3 | c.283T>G (p.Ser95Ala) n.664T>G c.427T>G (p.Ser143Ala) | |
2 | g.222297016A>G | CA351113424 | PAX3 | c.283T>C (p.Ser95Pro) n.664T>C c.427T>C (p.Ser143Pro) | COSMIC COSMIC COSMIC |
2 | g.222297016A>T | CA351113425 | PAX3 | c.283T>A (p.Ser95Thr) n.664T>A c.427T>A (p.Ser143Thr) | |
2 | g.222297017G>A | CA431575901 | PAX3 | c.282C>T (p.Gly94=) n.663C>T c.426C>T (p.Gly142=) | |
2 | g.222297017G>C | CA431575903 | PAX3 | c.282C>G (p.Gly94=) n.663C>G c.426C>G (p.Gly142=) | |
2 | g.222297017G>T | CA431575902 | PAX3 | c.282C>A (p.Gly94=) n.663C>A c.426C>A (p.Gly142=) | |
2 | g.222297017_222297031delinsGCCAGTCTCCTGGTA | CA1330546500 | PAX3 | c.268_282delinsTACCAGGAGACTGGC (p.Tyr90=) n.649_663delinsTACCAGGAGACTGGC c.412_426delinsTACCAGGAGACTGGC (p.Tyr138=) | |
2 | g.222297018C>A | CA351113426 | PAX3 | c.281G>T (p.Gly94Val) n.662G>T c.425G>T (p.Gly142Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.222297018C>G | CA351113427 | PAX3 | c.281G>C (p.Gly94Ala) n.662G>C c.425G>C (p.Gly142Ala) | |
2 | g.222297018C>T | CA351113428 | PAX3 | c.281G>A (p.Gly94Asp) n.662G>A c.425G>A (p.Gly142Asp) | |
2 | g.222297020_222297033del | CA913190012 | PAX3 | c.268_281del (p.Tyr90LeufsTer19) n.649_662del c.268_281del (p.Tyr90LeufsTer18) c.412_425del (p.Tyr138LeufsTer19) | ClinVar dbSNP |
2 | g.222297019C>A | CA351113431 | PAX3 | c.280G>T (p.Gly94Cys) n.661G>T c.424G>T (p.Gly142Cys) | ClinVar |
2 | g.222297019C>G | CA351113429 | PAX3 | c.280G>C (p.Gly94Arg) n.661G>C c.424G>C (p.Gly142Arg) | |
2 | g.222297019C>T | CA351113430 | PAX3 | c.280G>A (p.Gly94Ser) n.661G>A c.424G>A (p.Gly142Ser) | |
2 | g.222297020A>C | CA431575906 | PAX3 | c.279T>G (p.Thr93=) n.660T>G c.423T>G (p.Thr141=) | |
2 | g.222297020A>G | CA431575905 | PAX3 | c.279T>C (p.Thr93=) n.660T>C c.423T>C (p.Thr141=) | |
2 | g.222297020A>T | CA431575904 | PAX3 | c.279T>A (p.Thr93=) n.660T>A c.423T>A (p.Thr141=) | |
2 | g.222297021G>A | CA351113432 | PAX3 | c.278C>T (p.Thr93Ile) n.659C>T c.422C>T (p.Thr141Ile) | |
2 | g.222297021G>C | CA351113433 | PAX3 | c.278C>G (p.Thr93Ser) n.659C>G c.422C>G (p.Thr141Ser) | gnomAD v4 |
2 | g.222297021G>T | CA351113434 | PAX3 | c.278C>A (p.Thr93Asn) n.659C>A c.422C>A (p.Thr141Asn) | |
2 | g.222297022T>A | CA351113435 | PAX3 | c.277A>T (p.Thr93Ser) n.658A>T c.421A>T (p.Thr141Ser) | |
2 | g.222297022T>C | CA351113436 | PAX3 | c.277A>G (p.Thr93Ala) n.658A>G c.421A>G (p.Thr141Ala) | |
2 | g.222297022T>G | CA351113437 | PAX3 | c.277A>C (p.Thr93Pro) n.658A>C c.421A>C (p.Thr141Pro) | |
2 | g.222297023C>A | CA351113438 | PAX3 | c.276G>T (p.Glu92Asp) n.657G>T c.420G>T (p.Glu140Asp) | |
2 | g.222297023C>G | CA351113439 | PAX3 | c.276G>C (p.Glu92Asp) n.657G>C c.420G>C (p.Glu140Asp) | |
2 | g.222297023C>T | CA431575907 | PAX3 | c.276G>A (p.Glu92=) n.657G>A c.420G>A (p.Glu140=) | |
2 | g.222297024T>A | CA351113440 | PAX3 | c.275A>T (p.Glu92Val) n.656A>T c.419A>T (p.Glu140Val) | |
2 | g.222297024T>C | CA351113441 | PAX3 | c.275A>G (p.Glu92Gly) n.656A>G c.419A>G (p.Glu140Gly) | |
2 | g.222297024T>G | CA351113442 | PAX3 | c.275A>C (p.Glu92Ala) n.656A>C c.419A>C (p.Glu140Ala) | |
2 | g.222297025C>A | CA351113445 | PAX3 | c.274G>T (p.Glu92Ter) n.655G>T c.418G>T (p.Glu140Ter) | |
2 | g.222297025C= | CA1330546501 | PAX3 | c.274G= (p.Glu92=) n.655G= c.418G= (p.Glu140=) | |
2 | g.222297025C>G | CA351113444 | PAX3 | c.274G>C (p.Glu92Gln) n.655G>C c.418G>C (p.Glu140Gln) | |
2 | g.222297025C>T | CA351113443 | PAX3 | c.274G>A (p.Glu92Lys) n.655G>A c.418G>A (p.Glu140Lys) | dbSNP gnomAD v4 |
2 | g.222297026C>A | CA351113446 | PAX3 | c.273G>T (p.Gln91His) n.654G>T c.417G>T (p.Gln139His) | |
2 | g.222297026C>G | CA351113447 | PAX3 | c.273G>C (p.Gln91His) n.654G>C c.417G>C (p.Gln139His) | |
2 | g.222297026C>T | CA431575908 | PAX3 | c.273G>A (p.Gln91=) n.654G>A c.417G>A (p.Gln139=) | |
2 | g.222297027T>A | CA351113448 | PAX3 | c.272A>T (p.Gln91Leu) n.653A>T c.416A>T (p.Gln139Leu) | |
2 | g.222297027T>C | CA351113450 | PAX3 | c.272A>G (p.Gln91Arg) n.653A>G c.416A>G (p.Gln139Arg) | gnomAD v4 |
2 | g.222297027T>G | CA351113449 | PAX3 | c.272A>C (p.Gln91Pro) n.653A>C c.416A>C (p.Gln139Pro) | |
2 | g.222297028G>A | CA351113451 | PAX3 | c.271C>T (p.Gln91Ter) n.652C>T c.415C>T (p.Gln139Ter) | |
2 | g.222297028G>C | CA351113452 | PAX3 | c.271C>G (p.Gln91Glu) n.652C>G c.415C>G (p.Gln139Glu) | |
2 | g.222297028G>T | CA351113453 | PAX3 | c.271C>A (p.Gln91Lys) n.652C>A c.415C>A (p.Gln139Lys) | |
2 | g.222297028_222297037dup | CA2697550473 | PAX3 | c.262_271dup (p.Gln91LeufsTer26) n.643_652dup c.262_271dup (p.Gln91LeufsTer25) c.406_415dup (p.Gln139LeufsTer26) | ClinVar |
2 | g.222297029G>A | CA431575909 | PAX3 | c.270C>T (p.Tyr90=) n.651C>T c.414C>T (p.Tyr138=) | |
2 | g.222297029G>C | CA351113454 | PAX3 | c.270C>G (p.Tyr90Ter) n.651C>G c.414C>G (p.Tyr138Ter) | ClinVar dbSNP |
2 | g.222297029G= | CA1330546502 | PAX3 | c.270C= (p.Tyr90=) n.651C= c.414C= (p.Tyr138=) | |
2 | g.222297029G>T | CA351113455 | PAX3 | c.270C>A (p.Tyr90Ter) n.651C>A c.414C>A (p.Tyr138Ter) | |
2 | g.222297030T>A | CA351113456 | PAX3 | c.269A>T (p.Tyr90Phe) n.650A>T c.413A>T (p.Tyr138Phe) | |
2 | g.222297030T>C | CA351113457 | PAX3 | c.269A>G (p.Tyr90Cys) n.650A>G c.413A>G (p.Tyr138Cys) | ClinVar dbSNP |
2 | g.222297030T>G | CA351113458 | PAX3 | c.269A>C (p.Tyr90Ser) n.650A>C c.413A>C (p.Tyr138Ser) | |
2 | g.222297030T= | CA1330546503 | PAX3 | c.269A= (p.Tyr90=) n.650A= c.413A= (p.Tyr138=) | |
2 | g.222297031A= | CA1330546504 | PAX3 | c.268T= (p.Tyr90=) n.649T= c.412T= (p.Tyr138=) | |
2 | g.222297031A>C | CA351113459 | PAX3 | c.268T>G (p.Tyr90Asp) n.649T>G c.412T>G (p.Tyr138Asp) | |
2 | g.222297031A>G | CA116694 | PAX3 | c.268T>C (p.Tyr90His) n.649T>C c.412T>C (p.Tyr138His) | ClinVar dbSNP |
2 | g.222297031A>T | CA351113460 | PAX3 | c.268T>A (p.Tyr90Asn) n.649T>A c.412T>A (p.Tyr138Asn) | |
2 | g.222297032C>A | CA351113461 | PAX3 | c.267G>T (p.Arg89Ser) n.648G>T c.411G>T (p.Arg137Ser) | gnomAD v4 |
2 | g.222297032C= | CA1330546505 | PAX3 | c.267G= (p.Arg89=) n.648G= c.411G= (p.Arg137=) | |
2 | g.222297032C>G | CA351113462 | PAX3 | c.267G>C (p.Arg89Ser) n.648G>C c.411G>C (p.Arg137Ser) | dbSNP |
2 | g.222297032C>T | CA431575910 | PAX3 | c.267G>A (p.Arg89=) n.648G>A c.411G>A (p.Arg137=) | |
2 | g.222297033C>A | CA351113463 | PAX3 | c.266G>T (p.Arg89Met) n.647G>T c.410G>T (p.Arg137Met) | |
2 | g.222297033C>G | CA351113465 | PAX3 | c.266G>C (p.Arg89Thr) n.647G>C c.410G>C (p.Arg137Thr) | ClinVar |
2 | g.222297033C>T | CA351113464 | PAX3 | c.266G>A (p.Arg89Lys) n.647G>A c.410G>A (p.Arg137Lys) | |
2 | g.222297034T>A | CA351113466 | PAX3 | c.265A>T (p.Arg89Trp) n.646A>T c.409A>T (p.Arg137Trp) | |
2 | g.222297034T>C | CA351113467 | PAX3 | c.265A>G (p.Arg89Gly) n.646A>G c.409A>G (p.Arg137Gly) | |
2 | g.222297034T>G | CA431575911 | PAX3 | c.265A>C (p.Arg89=) n.646A>C c.409A>C (p.Arg137=) | |
2 | g.222297034_222297035delinsTG | CA1330546506 | PAX3 | c.264_265delinsCA (p.Cys88=) n.645_646delinsCA c.408_409delinsCA (p.Cys136=) | |
2 | g.222297035del | CA1139657712 | PAX3 | c.264del (p.Cys88Ter) n.645del c.408del (p.Cys136Ter) | ClinVar dbSNP |
2 | g.222297035G>A | CA431575912 | PAX3 | c.264C>T (p.Cys88=) n.645C>T c.408C>T (p.Cys136=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297035G>C | CA351113468 | PAX3 | c.264C>G (p.Cys88Trp) n.645C>G c.408C>G (p.Cys136Trp) | |
2 | g.222297035G= | CA1330546507 | PAX3 | c.264C= (p.Cys88=) n.645C= c.408C= (p.Cys136=) | |
2 | g.222297035G>T | CA351113469 | PAX3 | c.264C>A (p.Cys88Ter) n.645C>A c.408C>A (p.Cys136Ter) | |
2 | g.222297036C>A | CA351113470 | PAX3 | c.263G>T (p.Cys88Phe) n.644G>T c.407G>T (p.Cys136Phe) | gnomAD v4 |
2 | g.222297036C>G | CA351113471 | PAX3 | c.263G>C (p.Cys88Ser) n.644G>C c.407G>C (p.Cys136Ser) | |
2 | g.222297036C>T | CA351113472 | PAX3 | c.263G>A (p.Cys88Tyr) n.644G>A c.407G>A (p.Cys136Tyr) | |
2 | g.222297037A>C | CA351113473 | PAX3 | c.262T>G (p.Cys88Gly) n.643T>G c.406T>G (p.Cys136Gly) | gnomAD v4 |
2 | g.222297037A>G | CA351113474 | PAX3 | c.262T>C (p.Cys88Arg) n.643T>C c.406T>C (p.Cys136Arg) | |
2 | g.222297037A>T | CA351113475 | PAX3 | c.262T>A (p.Cys88Ser) n.643T>A c.406T>A (p.Cys136Ser) | |
2 | g.222297038C>A | CA431575913 | PAX3 | c.261G>T (p.Leu87=) n.642G>T c.405G>T (p.Leu135=) | |
2 | g.222297038C= | CA1330546508 | PAX3 | c.261G= (p.Leu87=) n.642G= c.405G= (p.Leu135=) | |
2 | g.222297038C>G | CA431575915 | PAX3 | c.261G>C (p.Leu87=) n.642G>C c.405G>C (p.Leu135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297038C>T | CA431575914 | PAX3 | c.261G>A (p.Leu87=) n.642G>A c.405G>A (p.Leu135=) | dbSNP |
2 | g.222297039del | CA2586971545 | PAX3 | c.260del (p.Leu87ArgfsTer23) n.641del c.260del (p.Leu87ArgfsTer22) c.404del (p.Leu135ArgfsTer23) | |
2 | g.222297039A>C | CA351113478 | PAX3 | c.260T>G (p.Leu87Arg) n.641T>G c.404T>G (p.Leu135Arg) | |
2 | g.222297039A>G | CA351113477 | PAX3 | c.260T>C (p.Leu87Pro) n.641T>C c.404T>C (p.Leu135Pro) | |
2 | g.222297039A>T | CA351113476 | PAX3 | c.260T>A (p.Leu87Gln) n.641T>A c.404T>A (p.Leu135Gln) | |
2 | g.222297040G>A | CA431575916 | PAX3 | c.259C>T (p.Leu87=) n.640C>T c.403C>T (p.Leu135=) | |
2 | g.222297040G>C | CA351113480 | PAX3 | c.259C>G (p.Leu87Val) n.640C>G c.403C>G (p.Leu135Val) | |
2 | g.222297040G>T | CA351113479 | PAX3 | c.259C>A (p.Leu87Met) n.640C>A c.403C>A (p.Leu135Met) | |
2 | g.222297041G>A | CA431575917 | PAX3 | c.258C>T (p.Ile86=) n.639C>T c.402C>T (p.Ile134=) | |
2 | g.222297041G>C | CA351113481 | PAX3 | c.258C>G (p.Ile86Met) n.639C>G c.402C>G (p.Ile134Met) | |
2 | g.222297041G>T | CA431575918 | PAX3 | c.258C>A (p.Ile86=) n.639C>A c.402C>A (p.Ile134=) | |
2 | g.222297042A>C | CA351113482 | PAX3 | c.257T>G (p.Ile86Ser) n.638T>G c.401T>G (p.Ile134Ser) | |
2 | g.222297042A>G | CA351113483 | PAX3 | c.257T>C (p.Ile86Thr) n.638T>C c.401T>C (p.Ile134Thr) | |
2 | g.222297042A>T | CA351113484 | PAX3 | c.257T>A (p.Ile86Asn) n.638T>A c.401T>A (p.Ile134Asn) | |
2 | g.222297043T>A | CA351113485 | PAX3 | c.256A>T (p.Ile86Phe) n.637A>T c.400A>T (p.Ile134Phe) | ClinVar dbSNP |
2 | g.222297043T>C | CA351113486 | PAX3 | c.256A>G (p.Ile86Val) n.637A>G c.400A>G (p.Ile134Val) | |
2 | g.222297043T>G | CA351113487 | PAX3 | c.256A>C (p.Ile86Leu) n.637A>C c.400A>C (p.Ile134Leu) | |
2 | g.222297043T= | CA1330546509 | PAX3 | c.256A= (p.Ile86=) n.637A= c.400A= (p.Ile134=) | |
2 | g.222297044C>A | CA351113488 | PAX3 | c.255G>T (p.Lys85Asn) n.636G>T c.399G>T (p.Lys133Asn) | |
2 | g.222297044C>G | CA351113489 | PAX3 | c.255G>C (p.Lys85Asn) n.636G>C c.399G>C (p.Lys133Asn) | ClinVar dbSNP |
2 | g.222297044C>T | CA431575919 | PAX3 | c.255G>A (p.Lys85=) n.636G>A c.399G>A (p.Lys133=) | |
2 | g.222297045T>A | CA351113490 | PAX3 | c.254A>T (p.Lys85Met) n.635A>T c.398A>T (p.Lys133Met) | |
2 | g.222297045T>C | CA351113491 | PAX3 | c.254A>G (p.Lys85Arg) n.635A>G c.398A>G (p.Lys133Arg) | |
2 | g.222297045T>G | CA351113492 | PAX3 | c.254A>C (p.Lys85Thr) n.635A>C c.398A>C (p.Lys133Thr) | |
2 | g.222297046T>A | CA351113495 | PAX3 | c.253A>T (p.Lys85Ter) n.634A>T c.397A>T (p.Lys133Ter) | |
2 | g.222297046T>C | CA351113493 | PAX3 | c.253A>G (p.Lys85Glu) n.634A>G c.397A>G (p.Lys133Glu) | |
2 | g.222297046T>G | CA351113494 | PAX3 | c.253A>C (p.Lys85Gln) n.634A>C c.397A>C (p.Lys133Gln) | |
2 | g.222297047G>A | CA431575920 | PAX3 | c.252C>T (p.Ser84=) n.633C>T c.396C>T (p.Ser132=) | gnomAD v4 |
2 | g.222297047G>C | CA431575921 | PAX3 | c.252C>G (p.Ser84=) n.633C>G c.396C>G (p.Ser132=) | |
2 | g.222297047G>T | CA431575922 | PAX3 | c.252C>A (p.Ser84=) n.633C>A c.396C>A (p.Ser132=) | |
2 | g.222297048G>A | CA116691 | PAX3 | c.251C>T (p.Ser84Phe) n.632C>T c.395C>T (p.Ser132Phe) | ClinVar dbSNP |
2 | g.222297048G>C | CA351113496 | PAX3 | c.251C>G (p.Ser84Cys) n.632C>G c.395C>G (p.Ser132Cys) | |
2 | g.222297048G= | CA1330546510 | PAX3 | c.251C= (p.Ser84=) n.632C= c.395C= (p.Ser132=) | |
2 | g.222297048G>T | CA351113497 | PAX3 | c.251C>A (p.Ser84Tyr) n.632C>A c.395C>A (p.Ser132Tyr) | |
2 | g.222297049A>C | CA351113498 | PAX3 | c.250T>G (p.Ser84Ala) n.631T>G c.394T>G (p.Ser132Ala) | |
2 | g.222297049A>G | CA351113499 | PAX3 | c.250T>C (p.Ser84Pro) n.631T>C c.394T>C (p.Ser132Pro) | |
2 | g.222297049A>T | CA351113500 | PAX3 | c.250T>A (p.Ser84Thr) n.631T>A c.394T>A (p.Ser132Thr) | |
2 | g.222297050G>A | CA431575923 | PAX3 | c.249C>T (p.Val83=) n.630C>T c.393C>T (p.Val131=) | |
2 | g.222297050G>C | CA431575924 | PAX3 | c.249C>G (p.Val83=) n.630C>G c.393C>G (p.Val131=) | |
2 | g.222297050G>T | CA431575925 | PAX3 | c.249C>A (p.Val83=) n.630C>A c.393C>A (p.Val131=) | |
2 | g.222297051A>C | CA351113501 | PAX3 | c.248T>G (p.Val83Gly) n.629T>G c.392T>G (p.Val131Gly) | |
2 | g.222297051A>G | CA351113502 | PAX3 | c.248T>C (p.Val83Ala) n.629T>C c.392T>C (p.Val131Ala) | |
2 | g.222297051A>T | CA351113503 | PAX3 | c.248T>A (p.Val83Asp) n.629T>A c.392T>A (p.Val131Asp) | |
2 | g.222297052C>A | CA351113504 | PAX3 | c.247G>T (p.Val83Phe) n.628G>T c.391G>T (p.Val131Phe) | dbSNP |
2 | g.222297052C= | CA1330546511 | PAX3 | c.247G= (p.Val83=) n.628G= c.391G= (p.Val131=) | |
2 | g.222297052C>G | CA351113505 | PAX3 | c.247G>C (p.Val83Leu) n.628G>C c.391G>C (p.Val131Leu) | |
2 | g.222297052C>T | CA351113506 | PAX3 | c.247G>A (p.Val83Ile) n.628G>A c.391G>A (p.Val131Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297053G>A | CA2135791 | PAX3 | c.246C>T (p.Cys82=) n.627C>T c.390C>T (p.Cys130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297053G>C | CA351113508 | PAX3 | c.246C>G (p.Cys82Trp) n.627C>G c.390C>G (p.Cys130Trp) | ClinVar dbSNP |
2 | g.222297053G= | CA1330546512 | PAX3 | c.246C= (p.Cys82=) n.627C= c.390C= (p.Cys130=) | |
2 | g.222297053G>T | CA351113507 | PAX3 | c.246C>A (p.Cys82Ter) n.627C>A c.390C>A (p.Cys130Ter) | ClinVar dbSNP |
2 | g.222297054C>A | CA351113509 | PAX3 | c.245G>T (p.Cys82Phe) n.626G>T c.389G>T (p.Cys130Phe) | |
2 | g.222297054C>G | CA351113510 | PAX3 | c.245G>C (p.Cys82Ser) n.626G>C c.389G>C (p.Cys130Ser) | |
2 | g.222297054C>T | CA351113511 | PAX3 | c.245G>A (p.Cys82Tyr) n.626G>A c.389G>A (p.Cys130Tyr) | |
2 | g.222297055A>C | CA351113512 | PAX3 | c.244T>G (p.Cys82Gly) n.625T>G c.388T>G (p.Cys130Gly) | |
2 | g.222297055A>G | CA351113513 | PAX3 | c.244T>C (p.Cys82Arg) n.625T>C c.388T>C (p.Cys130Arg) | |
2 | g.222297055A>T | CA351113514 | PAX3 | c.244T>A (p.Cys82Ser) n.625T>A c.388T>A (p.Cys130Ser) | |
2 | g.222297056G>A | CA431575926 | PAX3 | c.243C>T (p.Gly81=) n.624C>T c.387C>T (p.Gly129=) | |
2 | g.222297056G>C | CA431575927 | PAX3 | c.243C>G (p.Gly81=) n.624C>G c.387C>G (p.Gly129=) | |
2 | g.222297056G>T | CA431575928 | PAX3 | c.243C>A (p.Gly81=) n.624C>A c.387C>A (p.Gly129=) | |
2 | g.222297057C>A | CA351113516 | PAX3 | c.242G>T (p.Gly81Val) n.623G>T c.386G>T (p.Gly129Val) | |
2 | g.222297057C= | CA1330546513 | PAX3 | c.242G= (p.Gly81=) n.623G= c.386G= (p.Gly129=) | |
2 | g.222297057C>G | CA253049 | PAX3 | c.242G>C (p.Gly81Ala) n.623G>C c.386G>C (p.Gly129Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.222297057C>T | CA351113515 | PAX3 | c.242G>A (p.Gly81Asp) n.623G>A c.386G>A (p.Gly129Asp) | ClinVar dbSNP |
2 | g.222297058C>A | CA269911 | PAX3 | c.241G>T (p.Gly81Cys) n.622G>T c.385G>T (p.Gly129Cys) | ClinVar dbSNP |
2 | g.222297058C= | CA1330546514 | PAX3 | c.241G= (p.Gly81=) n.622G= c.385G= (p.Gly129=) | |
2 | g.222297058C>G | CA2135792 | PAX3 | c.241G>C (p.Gly81Arg) n.622G>C c.385G>C (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297058C>T | CA351113517 | PAX3 | c.241G>A (p.Gly81Ser) n.622G>A c.385G>A (p.Gly129Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297059G>A | CA431575929 | PAX3 | c.240C>T (p.His80=) n.621C>T c.384C>T (p.His128=) | dbSNP gnomAD v4 |
2 | g.222297059G>C | CA351113518 | PAX3 | c.240C>G (p.His80Gln) n.621C>G c.384C>G (p.His128Gln) | |
2 | g.222297059G= | CA1330546515 | PAX3 | c.240C= (p.His80=) n.621C= c.384C= (p.His128=) | |
2 | g.222297059G>T | CA351113519 | PAX3 | c.240C>A (p.His80Gln) n.621C>A c.384C>A (p.His128Gln) | |
2 | g.222297060T>A | CA351113522 | PAX3 | c.239A>T (p.His80Leu) n.620A>T c.383A>T (p.His128Leu) | |
2 | g.222297060T>C | CA351113520 | PAX3 | c.239A>G (p.His80Arg) n.620A>G c.383A>G (p.His128Arg) | ClinVar dbSNP |
2 | g.222297060T>G | CA351113521 | PAX3 | c.239A>C (p.His80Pro) n.620A>C c.383A>C (p.His128Pro) | |
2 | g.222297060T= | CA1330546516 | PAX3 | c.239A= (p.His80=) n.620A= c.383A= (p.His128=) | |
2 | g.222297061G>A | CA351113523 | PAX3 | c.238C>T (p.His80Tyr) n.619C>T c.382C>T (p.His128Tyr) | ClinVar |
2 | g.222297061G>C | CA259837 | PAX3 | c.238C>G (p.His80Asp) n.619C>G c.382C>G (p.His128Asp) | ClinVar dbSNP |
2 | g.222297061G= | CA1330546517 | PAX3 | c.238C= (p.His80=) n.619C= c.382C= (p.His128=) | |
2 | g.222297061G>T | CA351113524 | PAX3 | c.238C>A (p.His80Asn) n.619C>A c.382C>A (p.His128Asn) | |
2 | g.222297062G>A | CA431575930 | PAX3 | c.237C>T (p.Ser79=) n.618C>T c.381C>T (p.Ser127=) | |
2 | g.222297062G>C | CA431575931 | PAX3 | c.237C>G (p.Ser79=) n.618C>G c.381C>G (p.Ser127=) | |
2 | g.222297062G>T | CA431575932 | PAX3 | c.237C>A (p.Ser79=) n.618C>A c.381C>A (p.Ser127=) | |
2 | g.222297063G>A | CA351113525 | PAX3 | c.236C>T (p.Ser79Phe) n.617C>T c.380C>T (p.Ser127Phe) | |
2 | g.222297063G>C | CA351113526 | PAX3 | c.236C>G (p.Ser79Cys) n.617C>G c.380C>G (p.Ser127Cys) | |
2 | g.222297063G>T | CA351113527 | PAX3 | c.236C>A (p.Ser79Tyr) n.617C>A c.380C>A (p.Ser127Tyr) | |
2 | g.222297064A>C | CA351113528 | PAX3 | c.235T>G (p.Ser79Ala) n.616T>G c.379T>G (p.Ser127Ala) | |
2 | g.222297064A>G | CA351113529 | PAX3 | c.235T>C (p.Ser79Pro) n.616T>C c.379T>C (p.Ser127Pro) | |
2 | g.222297064A>T | CA351113530 | PAX3 | c.235T>A (p.Ser79Thr) n.616T>A c.379T>A (p.Ser127Thr) | |
2 | g.222297065C>A | CA431575933 | PAX3 | c.234G>T (p.Val78=) n.615G>T c.378G>T (p.Val126=) | |
2 | g.222297065C= | CA1330546518 | PAX3 | c.234G= (p.Val78=) n.615G= c.378G= (p.Val126=) | |
2 | g.222297065C>G | CA431575934 | PAX3 | c.234G>C (p.Val78=) n.615G>C c.378G>C (p.Val126=) | |
2 | g.222297065C>T | CA431575935 | PAX3 | c.234G>A (p.Val78=) n.615G>A c.378G>A (p.Val126=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297066A>C | CA351113531 | PAX3 | c.233T>G (p.Val78Gly) n.614T>G c.377T>G (p.Val126Gly) | |
2 | g.222297066A>G | CA351113532 | PAX3 | c.233T>C (p.Val78Ala) n.614T>C c.377T>C (p.Val126Ala) | |
2 | g.222297066A>T | CA351113533 | PAX3 | c.233T>A (p.Val78Glu) n.614T>A c.377T>A (p.Val126Glu) | ClinVar dbSNP |
2 | g.222297067C>A | CA351113534 | PAX3 | c.232G>T (p.Val78Leu) n.613G>T c.376G>T (p.Val126Leu) | ClinVar dbSNP |
2 | g.222297067C= | CA1330546519 | PAX3 | c.232G= (p.Val78=) n.613G= c.376G= (p.Val126=) | |
2 | g.222297067C>G | CA351113536 | PAX3 | c.232G>C (p.Val78Leu) n.613G>C c.376G>C (p.Val126Leu) | |
2 | g.222297067C>T | CA351113535 | PAX3 | c.232G>A (p.Val78Met) n.613G>A c.376G>A (p.Val126Met) | |
2 | g.222297068G>A | CA431575936 | PAX3 | c.231C>T (p.Arg77=) n.612C>T c.375C>T (p.Arg125=) | |
2 | g.222297068G>C | CA431575937 | PAX3 | c.231C>G (p.Arg77=) n.612C>G c.375C>G (p.Arg125=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297068G= | CA1330546520 | PAX3 | c.231C= (p.Arg77=) n.612C= c.375C= (p.Arg125=) | |
2 | g.222297068G>T | CA2135793 | PAX3 | c.231C>A (p.Arg77=) n.612C>A c.375C>A (p.Arg125=) | dbSNP ExAC gnomAD v2 |
2 | g.222297069C>A | CA351113537 | PAX3 | c.230G>T (p.Arg77Leu) n.611G>T c.374G>T (p.Arg125Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297069C= | CA1330546521 | PAX3 | c.230G= (p.Arg77=) n.611G= c.374G= (p.Arg125=) | |
2 | g.222297069C>G | CA351113538 | PAX3 | c.230G>C (p.Arg77Pro) n.611G>C c.374G>C (p.Arg125Pro) | |
2 | g.222297069C>T | CA351113539 | PAX3 | c.230G>A (p.Arg77His) n.611G>A c.374G>A (p.Arg125His) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297070G>A | CA351113540 | PAX3 | c.229C>T (p.Arg77Cys) n.610C>T c.373C>T (p.Arg125Cys) | gnomAD v4 |
2 | g.222297070G>C | CA351113541 | PAX3 | c.229C>G (p.Arg77Gly) n.610C>G c.373C>G (p.Arg125Gly) | |
2 | g.222297070G>T | CA351113542 | PAX3 | c.229C>A (p.Arg77Ser) n.610C>A c.373C>A (p.Arg125Ser) | |
2 | g.222297071C>A | CA431575938 | PAX3 | c.228G>T (p.Leu76=) n.609G>T c.372G>T (p.Leu124=) | |
2 | g.222297071C>G | CA431575939 | PAX3 | c.228G>C (p.Leu76=) n.609G>C c.372G>C (p.Leu124=) | |
2 | g.222297071C>T | CA431575940 | PAX3 | c.228G>A (p.Leu76=) n.609G>A c.372G>A (p.Leu124=) | |
2 | g.222297072A= | CA1330546522 | PAX3 | c.227T= (p.Leu76=) n.608T= c.371T= (p.Leu124=) | |
2 | g.222297072A>C | CA351113543 | PAX3 | c.227T>G (p.Leu76Arg) n.608T>G c.371T>G (p.Leu124Arg) | ClinVar dbSNP |
2 | g.222297072A>G | CA351113544 | PAX3 | c.227T>C (p.Leu76Pro) n.608T>C c.371T>C (p.Leu124Pro) | |
2 | g.222297072A>T | CA351113545 | PAX3 | c.227T>A (p.Leu76Gln) n.608T>A c.371T>A (p.Leu124Gln) | |
2 | g.222297073G>A | CA431575941 | PAX3 | c.226C>T (p.Leu76=) n.607C>T c.370C>T (p.Leu124=) | |
2 | g.222297073G>C | CA351113546 | PAX3 | c.226C>G (p.Leu76Val) n.607C>G c.370C>G (p.Leu124Val) | |
2 | g.222297073G>T | CA351113547 | PAX3 | c.226C>A (p.Leu76Met) n.607C>A c.370C>A (p.Leu124Met) | |
2 | g.222297074C>A | CA351113549 | PAX3 | c.225G>T (p.Gln75His) n.606G>T c.369G>T (p.Gln123His) | gnomAD v4 |
2 | g.222297074C>G | CA351113548 | PAX3 | c.225G>C (p.Gln75His) n.606G>C c.369G>C (p.Gln123His) | gnomAD v4 |
2 | g.222297074C>T | CA431575942 | PAX3 | c.225G>A (p.Gln75=) n.606G>A c.369G>A (p.Gln123=) | |
2 | g.222297075T>A | CA351113550 | PAX3 | c.224A>T (p.Gln75Leu) n.605A>T c.368A>T (p.Gln123Leu) | |
2 | g.222297075T>C | CA351113551 | PAX3 | c.224A>G (p.Gln75Arg) n.605A>G c.368A>G (p.Gln123Arg) | |
2 | g.222297075T>G | CA351113552 | PAX3 | c.224A>C (p.Gln75Pro) n.605A>C c.368A>C (p.Gln123Pro) | |
2 | g.222297076G>A | CA351113553 | PAX3 | c.223C>T (p.Gln75Ter) n.604C>T c.367C>T (p.Gln123Ter) | |
2 | g.222297076G>C | CA351113554 | PAX3 | c.223C>G (p.Gln75Glu) n.604C>G c.367C>G (p.Gln123Glu) | |
2 | g.222297076G>T | CA351113555 | PAX3 | c.223C>A (p.Gln75Lys) n.604C>A c.367C>A (p.Gln123Lys) | |
2 | g.222297077G>A | CA431575943 | PAX3 | c.222C>T (p.Arg74=) n.603C>T c.366C>T (p.Arg122=) | |
2 | g.222297077G>C | CA431575944 | PAX3 | c.222C>G (p.Arg74=) n.603C>G c.366C>G (p.Arg122=) | |
2 | g.222297077G>T | CA431575945 | PAX3 | c.222C>A (p.Arg74=) n.603C>A c.366C>A (p.Arg122=) | |
2 | g.222297078C>A | CA351113556 | PAX3 | c.221G>T (p.Arg74Leu) n.602G>T c.365G>T (p.Arg122Leu) | |
2 | g.222297078C>G | CA351113557 | PAX3 | c.221G>C (p.Arg74Pro) n.602G>C c.365G>C (p.Arg122Pro) | |
2 | g.222297078C>T | CA351113558 | PAX3 | c.221G>A (p.Arg74His) n.602G>A c.365G>A (p.Arg122His) | |
2 | g.222297079G>A | CA351113559 | PAX3 | c.220C>T (p.Arg74Cys) n.601C>T c.364C>T (p.Arg122Cys) | |
2 | g.222297079G>C | CA351113560 | PAX3 | c.220C>G (p.Arg74Gly) n.601C>G c.364C>G (p.Arg122Gly) | |
2 | g.222297079G>T | CA351113561 | PAX3 | c.220C>A (p.Arg74Ser) n.601C>A c.364C>A (p.Arg122Ser) | |
2 | g.222297080C>A | CA431575946 | PAX3 | c.219G>T (p.Ser73=) n.600G>T c.363G>T (p.Ser121=) | dbSNP gnomAD v4 |
2 | g.222297080C= | CA1330546523 | PAX3 | c.219G= (p.Ser73=) n.600G= c.363G= (p.Ser121=) | |
2 | g.222297080C>G | CA431575947 | PAX3 | c.219G>C (p.Ser73=) n.600G>C c.363G>C (p.Ser121=) | |
2 | g.222297080C>T | CA431575948 | PAX3 | c.219G>A (p.Ser73=) n.600G>A c.363G>A (p.Ser121=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297081G>A | CA351113563 | PAX3 | c.218C>T (p.Ser73Leu) n.599C>T c.362C>T (p.Ser121Leu) | ClinVar dbSNP |
2 | g.222297081G>C | CA351113564 | PAX3 | c.218C>G (p.Ser73Trp) n.599C>G c.362C>G (p.Ser121Trp) | ClinVar |
2 | g.222297081G= | CA1330546524 | PAX3 | c.218C= (p.Ser73=) n.599C= c.362C= (p.Ser121=) | |
2 | g.222297081G>T | CA351113562 | PAX3 | c.218C>A (p.Ser73Ter) n.599C>A c.362C>A (p.Ser121Ter) | |
2 | g.222297082A>C | CA351113565 | PAX3 | c.217T>G (p.Ser73Ala) n.598T>G c.361T>G (p.Ser121Ala) | |
2 | g.222297082A>G | CA351113566 | PAX3 | c.217T>C (p.Ser73Pro) n.598T>C c.361T>C (p.Ser121Pro) | |
2 | g.222297082A>T | CA351113567 | PAX3 | c.217T>A (p.Ser73Thr) n.598T>A c.361T>A (p.Ser121Thr) | |
2 | g.222297083G>A | CA431575949 | PAX3 | c.216C>T (p.Ile72=) n.597C>T c.360C>T (p.Ile120=) | |
2 | g.222297083G>C | CA351113568 | PAX3 | c.216C>G (p.Ile72Met) n.597C>G c.360C>G (p.Ile120Met) | |
2 | g.222297083G>T | CA431575950 | PAX3 | c.216C>A (p.Ile72=) n.597C>A c.360C>A (p.Ile120=) | |
2 | g.222297084A= | CA1330546525 | PAX3 | c.215T= (p.Ile72=) n.596T= c.359T= (p.Ile120=) | |
2 | g.222297084A>C | CA351113569 | PAX3 | c.215T>G (p.Ile72Ser) n.596T>G c.359T>G (p.Ile120Ser) | |
2 | g.222297084A>G | CA351113570 | PAX3 | c.215T>C (p.Ile72Thr) n.596T>C c.359T>C (p.Ile120Thr) | ClinVar dbSNP |
2 | g.222297084A>T | CA351113571 | PAX3 | c.215T>A (p.Ile72Asn) n.596T>A c.359T>A (p.Ile120Asn) | |
2 | g.222297085T>A | CA351113572 | PAX3 | c.214A>T (p.Ile72Phe) n.595A>T c.358A>T (p.Ile120Phe) | |
2 | g.222297085T>C | CA351113573 | PAX3 | c.214A>G (p.Ile72Val) n.595A>G c.358A>G (p.Ile120Val) | |
2 | g.222297085T>G | CA351113574 | PAX3 | c.214A>C (p.Ile72Leu) n.595A>C c.358A>C (p.Ile120Leu) | |
2 | g.222297086G>A | CA431575951 | PAX3 | c.213C>T (p.Val71=) n.594C>T c.357C>T (p.Val119=) | |
2 | g.222297086G>C | CA431575952 | PAX3 | c.213C>G (p.Val71=) n.594C>G c.357C>G (p.Val119=) | |
2 | g.222297086G= | CA1330546526 | PAX3 | c.213C= (p.Val71=) n.594C= c.357C= (p.Val119=) | |
2 | g.222297086G>T | CA431575953 | PAX3 | c.213C>A (p.Val71=) n.594C>A c.357C>A (p.Val119=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297087A= | CA1330546527 | PAX3 | c.212T= (p.Val71=) n.593T= c.356T= (p.Val119=) | |
2 | g.222297087A>C | CA351113575 | PAX3 | c.212T>G (p.Val71Gly) n.593T>G c.356T>G (p.Val119Gly) | dbSNP |
2 | g.222297087A>G | CA351113576 | PAX3 | c.212T>C (p.Val71Ala) n.593T>C c.356T>C (p.Val119Ala) | |
2 | g.222297087A>T | CA351113577 | PAX3 | c.212T>A (p.Val71Asp) n.593T>A c.356T>A (p.Val119Asp) | |
2 | g.222297088C>A | CA66340692 | PAX3 | c.211G>T (p.Val71Phe) n.592G>T c.355G>T (p.Val119Phe) | dbSNP gnomAD v4 |
2 | g.222297088C= | CA1330546528 | PAX3 | c.211G= (p.Val71=) n.592G= c.355G= (p.Val119=) | |
2 | g.222297088C>G | CA351113579 | PAX3 | c.211G>C (p.Val71Leu) n.592G>C c.355G>C (p.Val119Leu) | |
2 | g.222297088C>T | CA351113578 | PAX3 | c.211G>A (p.Val71Ile) n.592G>A c.355G>A (p.Val119Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297089G>A | CA431575954 | PAX3 | c.210C>T (p.Cys70=) n.591C>T c.354C>T (p.Cys118=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297089G>C | CA351113580 | PAX3 | c.210C>G (p.Cys70Trp) n.591C>G c.354C>G (p.Cys118Trp) | |
2 | g.222297089G= | CA1330546529 | PAX3 | c.210C= (p.Cys70=) n.591C= c.354C= (p.Cys118=) | |
2 | g.222297089G>T | CA351113581 | PAX3 | c.210C>A (p.Cys70Ter) n.591C>A c.354C>A (p.Cys118Ter) | ClinVar dbSNP |
2 | g.222297090C>A | CA351113582 | PAX3 | c.209G>T (p.Cys70Phe) n.590G>T c.353G>T (p.Cys118Phe) | |
2 | g.222297090C>G | CA351113583 | PAX3 | c.209G>C (p.Cys70Ser) n.590G>C c.353G>C (p.Cys118Ser) | |
2 | g.222297090C>T | CA351113584 | PAX3 | c.209G>A (p.Cys70Tyr) n.590G>A c.353G>A (p.Cys118Tyr) | |
2 | g.222297091A>C | CA351113585 | PAX3 | c.208T>G (p.Cys70Gly) n.589T>G c.352T>G (p.Cys118Gly) | |
2 | g.222297091A>G | CA351113586 | PAX3 | c.208T>C (p.Cys70Arg) n.589T>C c.352T>C (p.Cys118Arg) | |
2 | g.222297091A>T | CA351113587 | PAX3 | c.208T>A (p.Cys70Ser) n.589T>A c.352T>A (p.Cys118Ser) | |
2 | g.222297092G>A | CA2135794 | PAX3 | c.207C>T (p.Pro69=) n.588C>T c.351C>T (p.Pro117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297092G>C | CA431575955 | PAX3 | c.207C>G (p.Pro69=) n.588C>G c.351C>G (p.Pro117=) | gnomAD v4 |
2 | g.222297092G= | CA1330546530 | PAX3 | c.207C= (p.Pro69=) n.588C= c.351C= (p.Pro117=) | |
2 | g.222297092G>T | CA431575956 | PAX3 | c.207C>A (p.Pro69=) n.588C>A c.351C>A (p.Pro117=) | |
2 | g.222297097_222297113del | CA2586971546 | PAX3 | c.191_207del (p.His64LeufsTer?) n.572_588del c.335_351del (p.His112LeufsTer?) | |
2 | g.222297093G>A | CA351113588 | PAX3 | c.206C>T (p.Pro69Leu) n.587C>T c.350C>T (p.Pro117Leu) | |
2 | g.222297093G>C | CA351113589 | PAX3 | c.206C>G (p.Pro69Arg) n.587C>G c.350C>G (p.Pro117Arg) | |
2 | g.222297093G>T | CA351113590 | PAX3 | c.206C>A (p.Pro69His) n.587C>A c.350C>A (p.Pro117His) | |
2 | g.222297094G>A | CA351113591 | PAX3 | c.205C>T (p.Pro69Ser) n.586C>T c.349C>T (p.Pro117Ser) | |
2 | g.222297094G>C | CA351113592 | PAX3 | c.205C>G (p.Pro69Ala) n.586C>G c.349C>G (p.Pro117Ala) | gnomAD v4 |
2 | g.222297094G>T | CA351113593 | PAX3 | c.205C>A (p.Pro69Thr) n.586C>A c.349C>A (p.Pro117Thr) | |
2 | g.222297095C>A | CA431575959 | PAX3 | c.204G>T (p.Arg68=) n.585G>T c.348G>T (p.Arg116=) | |
2 | g.222297095C>G | CA431575958 | PAX3 | c.204G>C (p.Arg68=) n.585G>C c.348G>C (p.Arg116=) | |
2 | g.222297095C>T | CA431575957 | PAX3 | c.204G>A (p.Arg68=) n.585G>A c.348G>A (p.Arg116=) | gnomAD v4 |
2 | g.222297096C>A | CA351113595 | PAX3 | c.203G>T (p.Arg68Leu) n.584G>T c.347G>T (p.Arg116Leu) | |
2 | g.222297096C>G | CA351113596 | PAX3 | c.203G>C (p.Arg68Pro) n.584G>C c.347G>C (p.Arg116Pro) | |
2 | g.222297096C>T | CA351113594 | PAX3 | c.203G>A (p.Arg68Gln) n.584G>A c.347G>A (p.Arg116Gln) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297096_222297114delinsCGGATGCCGTGGTGGGCCA | CA1330546531 | PAX3 | c.185_203delinsTGGCCCACCACGGCATCCG (p.Met62=) n.566_584delinsTGGCCCACCACGGCATCCG c.329_347delinsTGGCCCACCACGGCATCCG (p.Met110=) | |
2 | g.222297097G>A | CA351113597 | PAX3 | c.202C>T (p.Arg68Trp) n.583C>T c.346C>T (p.Arg116Trp) | ClinVar dbSNP |
2 | g.222297097G>C | CA351113598 | PAX3 | c.202C>G (p.Arg68Gly) n.583C>G c.346C>G (p.Arg116Gly) | |
2 | g.222297097G>T | CA431575960 | PAX3 | c.202C>A (p.Arg68=) n.583C>A c.346C>A (p.Arg116=) | |
2 | g.222297097_222297114del | CA913190013 | PAX3 | c.185_202del (p.Met62_Ile67del) n.566_583del c.329_346del (p.Met110_Ile115del) | ClinVar dbSNP |
2 | g.222297098G>A | CA431575961 | PAX3 | c.201C>T (p.Ile67=) n.582C>T c.345C>T (p.Ile115=) | |
2 | g.222297098G>C | CA351113599 | PAX3 | c.201C>G (p.Ile67Met) n.582C>G c.345C>G (p.Ile115Met) | |
2 | g.222297098G>T | CA431575962 | PAX3 | c.201C>A (p.Ile67=) n.582C>A c.345C>A (p.Ile115=) | |
2 | g.222297099A>C | CA351113600 | PAX3 | c.200T>G (p.Ile67Ser) n.581T>G c.344T>G (p.Ile115Ser) | |
2 | g.222297099A>G | CA351113601 | PAX3 | c.200T>C (p.Ile67Thr) n.581T>C c.344T>C (p.Ile115Thr) | COSMIC |
2 | g.222297099A>T | CA351113602 | PAX3 | c.200T>A (p.Ile67Asn) n.581T>A c.344T>A (p.Ile115Asn) | |
2 | g.222297100T>A | CA351113603 | PAX3 | c.199A>T (p.Ile67Phe) n.580A>T c.343A>T (p.Ile115Phe) | |
2 | g.222297100T>C | CA351113604 | PAX3 | c.199A>G (p.Ile67Val) n.580A>G c.343A>G (p.Ile115Val) | |
2 | g.222297100T>G | CA351113605 | PAX3 | c.199A>C (p.Ile67Leu) n.580A>C c.343A>C (p.Ile115Leu) | |
2 | g.222297101G>A | CA431575963 | PAX3 | c.198C>T (p.Gly66=) n.579C>T c.342C>T (p.Gly114=) | |
2 | g.222297101G>C | CA431575965 | PAX3 | c.198C>G (p.Gly66=) n.579C>G c.342C>G (p.Gly114=) | |
2 | g.222297101G>T | CA431575964 | PAX3 | c.198C>A (p.Gly66=) n.579C>A c.342C>A (p.Gly114=) | |
2 | g.222297102C>A | CA351113606 | PAX3 | c.197G>T (p.Gly66Val) n.578G>T c.341G>T (p.Gly114Val) | |
2 | g.222297102C>G | CA351113607 | PAX3 | c.197G>C (p.Gly66Ala) n.578G>C c.341G>C (p.Gly114Ala) | |
2 | g.222297102C>T | CA351113608 | PAX3 | c.197G>A (p.Gly66Asp) n.578G>A c.341G>A (p.Gly114Asp) | |
2 | g.222297103C>A | CA351113610 | PAX3 | c.196G>T (p.Gly66Cys) n.577G>T c.340G>T (p.Gly114Cys) | |
2 | g.222297103C= | CA1330546532 | PAX3 | c.196G= (p.Gly66=) n.577G= c.340G= (p.Gly114=) | |
2 | g.222297103C>G | CA351113611 | PAX3 | c.196G>C (p.Gly66Arg) n.577G>C c.340G>C (p.Gly114Arg) | gnomAD v4 |
2 | g.222297103C>T | CA351113609 | PAX3 | c.196G>A (p.Gly66Ser) n.577G>A c.340G>A (p.Gly114Ser) | dbSNP gnomAD v2 gnomAD v4 |