Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222296916_222296964del | CA2663324053 | PAX3 | c.321+14_321+62del (n.321+14_321+62del) n.702+14_702+62del c.465+14_465+62del (n.465+14_465+62del) | gnomAD v4 |
2 | g.222296951C>A | CA539497032 | PAX3 | c.321+27G>T (n.321+27G>T) n.702+27G>T c.465+27G>T (n.465+27G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296951C= | CA1330546464 | PAX3 | c.321+27G= (n.321+27G=) n.702+27G= c.465+27G= (n.465+27G=) | |
2 | g.222296952C>T | CA2740372017 | PAX3 | c.321+26G>A (n.321+26G>A) n.702+26G>A c.465+26G>A (n.465+26G>A) | |
2 | g.222296952_222296961delinsCAGGAGGGCA | CA1330546465 | PAX3 | c.321+17_321+26delinsTGCCCTCCTG (n.321+17_321+26delinsTGCCCTCCTG) n.702+17_702+26delinsTGCCCTCCTG c.465+17_465+26delinsTGCCCTCCTG (n.465+17_465+26delinsTGCCCTCCTG) | |
2 | g.222296956_222296964del | CA1330546466 | PAX3 | c.321+17_321+25del (n.321+17_321+25del) n.702+17_702+25del c.465+17_465+25del (n.465+17_465+25del) | dbSNP |
2 | g.222296954G= | CA1330546467 | PAX3 | c.321+24C= (n.321+24C=) n.702+24C= c.465+24C= (n.465+24C=) | |
2 | g.222296954G>T | CA2135777 | PAX3 | c.321+24C>A (n.321+24C>A) n.702+24C>A c.465+24C>A (n.465+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222296955G>A | CA2663324092 | PAX3 | c.321+23C>T (n.321+23C>T) n.702+23C>T c.465+23C>T (n.465+23C>T) | gnomAD v4 |
2 | g.222296955G>C | CA765250534 | PAX3 | c.321+23C>G (n.321+23C>G) n.702+23C>G c.465+23C>G (n.465+23C>G) | dbSNP |
2 | g.222296955G= | CA1330546468 | PAX3 | c.321+23C= (n.321+23C=) n.702+23C= c.465+23C= (n.465+23C=) | |
2 | g.222296955G>T | CA2663324093 | PAX3 | c.321+23C>A (n.321+23C>A) n.702+23C>A c.465+23C>A (n.465+23C>A) | gnomAD v4 |
2 | g.222296956A>C | CA2663324094 | PAX3 | c.321+22T>G (n.321+22T>G) n.702+22T>G c.465+22T>G (n.465+22T>G) | gnomAD v4 |
2 | g.222296956A>G | CA2663324095 | PAX3 | c.321+22T>C (n.321+22T>C) n.702+22T>C c.465+22T>C (n.465+22T>C) | gnomAD v4 |
2 | g.222296957G>T | CA2663324096 | PAX3 | c.321+21C>A (n.321+21C>A) n.702+21C>A c.465+21C>A (n.465+21C>A) | gnomAD v4 |
2 | g.222296958G>C | CA2135778 | PAX3 | c.321+20C>G (n.321+20C>G) n.702+20C>G c.465+20C>G (n.465+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296958G= | CA1330546469 | PAX3 | c.321+20C= (n.321+20C=) n.702+20C= c.465+20C= (n.465+20C=) | |
2 | g.222296958G>T | CA2663324097 | PAX3 | c.321+20C>A (n.321+20C>A) n.702+20C>A c.465+20C>A (n.465+20C>A) | gnomAD v4 |
2 | g.222296959G>A | CA2663324098 | PAX3 | c.321+19C>T (n.321+19C>T) n.702+19C>T c.465+19C>T (n.465+19C>T) | gnomAD v4 |
2 | g.222296959G= | CA1330546470 | PAX3 | c.321+19C= (n.321+19C=) n.702+19C= c.465+19C= (n.465+19C=) | |
2 | g.222296959G>T | CA1042702727 | PAX3 | c.321+19C>A (n.321+19C>A) n.702+19C>A c.465+19C>A (n.465+19C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222296960C>T | CA2663324099 | PAX3 | c.321+18G>A (n.321+18G>A) n.702+18G>A c.465+18G>A (n.465+18G>A) | gnomAD v4 |
2 | g.222296961A= | CA1330546471 | PAX3 | c.321+17T= (n.321+17T=) n.702+17T= c.465+17T= (n.465+17T=) | |
2 | g.222296961A>G | CA765250539 | PAX3 | c.321+17T>C (n.321+17T>C) n.702+17T>C c.465+17T>C (n.465+17T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222296963G>A | CA2135779 | PAX3 | c.321+15C>T (n.321+15C>T) n.702+15C>T c.465+15C>T (n.465+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296963G= | CA1330546472 | PAX3 | c.321+15C= (n.321+15C=) n.702+15C= c.465+15C= (n.465+15C=) | |
2 | g.222296964G>A | CA2663324100 | PAX3 | c.321+14C>T (n.321+14C>T) n.702+14C>T c.465+14C>T (n.465+14C>T) | gnomAD v4 |
2 | g.222296964_222296965delinsGC | CA1330546473 | PAX3 | c.321+13_321+14delinsGC (n.321+13_321+14delinsGC) n.702+13_702+14delinsGC c.465+13_465+14delinsGC (n.465+13_465+14delinsGC) | |
2 | g.222296967del | CA765250543 | PAX3 | c.321+13del (n.321+13del) n.702+13del c.465+13del (n.465+13del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222296966C= | CA1330546474 | PAX3 | c.321+12G= (n.321+12G=) n.702+12G= c.465+12G= (n.465+12G=) | |
2 | g.222296966C>T | CA539836905 | PAX3 | c.321+12G>A (n.321+12G>A) n.702+12G>A c.465+12G>A (n.465+12G>A) | dbSNP gnomAD v2 |
2 | g.222296967C>A | CA539836906 | PAX3 | c.321+11G>T (n.321+11G>T) n.702+11G>T c.465+11G>T (n.465+11G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296967C= | CA1330546475 | PAX3 | c.321+11G= (n.321+11G=) n.702+11G= c.465+11G= (n.465+11G=) | |
2 | g.222296967C>T | CA2135780 | PAX3 | c.321+11G>A (n.321+11G>A) n.702+11G>A c.465+11G>A (n.465+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296968G>A | CA2135782 | PAX3 | c.321+10C>T (n.321+10C>T) n.702+10C>T c.465+10C>T (n.465+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296968G= | CA1330546476 | PAX3 | c.321+10C= (n.321+10C=) n.702+10C= c.465+10C= (n.465+10C=) | |
2 | g.222296968G>T | CA2135781 | PAX3 | c.321+10C>A (n.321+10C>A) n.702+10C>A c.465+10C>A (n.465+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296969C= | CA1330546477 | PAX3 | c.321+9G= (n.321+9G=) n.702+9G= c.465+9G= (n.465+9G=) | |
2 | g.222296969C>G | CA2841952850 | PAX3 | c.321+9G>C (n.321+9G>C) n.702+9G>C c.465+9G>C (n.465+9G>C) | |
2 | g.222296969C>T | CA2135783 | PAX3 | c.321+9G>A (n.321+9G>A) n.702+9G>A c.465+9G>A (n.465+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296971del | CA2841952851 | PAX3 | c.321+9del (n.321+9del) n.702+9del c.465+9del (n.465+9del) | |
2 | g.222296970C>A | CA2663324101 | PAX3 | c.321+8G>T (n.321+8G>T) n.702+8G>T c.465+8G>T (n.465+8G>T) | gnomAD v4 |
2 | g.222296970C= | CA1330546478 | PAX3 | c.321+8G= (n.321+8G=) n.702+8G= c.465+8G= (n.465+8G=) | |
2 | g.222296970C>G | CA2663324102 | PAX3 | c.321+8G>C (n.321+8G>C) n.702+8G>C c.465+8G>C (n.465+8G>C) | gnomAD v4 |
2 | g.222296970C>T | CA2135784 | PAX3 | c.321+8G>A (n.321+8G>A) n.702+8G>A c.465+8G>A (n.465+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296971C= | CA1330546479 | PAX3 | c.321+7G= (n.321+7G=) n.702+7G= c.465+7G= (n.465+7G=) | |
2 | g.222296971C>T | CA66340690 | PAX3 | c.321+7G>A (n.321+7G>A) n.702+7G>A c.465+7G>A (n.465+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296972G>A | CA539836907 | PAX3 | c.321+6C>T (n.321+6C>T) n.702+6C>T c.465+6C>T (n.465+6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296972G= | CA1330546480 | PAX3 | c.321+6C= (n.321+6C=) n.702+6C= c.465+6C= (n.465+6C=) | |
2 | g.222296972G>T | CA2135785 | PAX3 | c.321+6C>A (n.321+6C>A) n.702+6C>A c.465+6C>A (n.465+6C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296973C>T | CA2663324103 | PAX3 | c.321+5G>A (n.321+5G>A) n.702+5G>A c.465+5G>A (n.465+5G>A) | gnomAD v4 |
2 | g.222296975C= | CA1330546481 | PAX3 | c.321+3G= (n.321+3G=) n.702+3G= c.465+3G= (n.465+3G=) | |
2 | g.222296975C>G | CA539836908 | PAX3 | c.321+3G>C (n.321+3G>C) n.702+3G>C c.465+3G>C (n.465+3G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296975C>T | CA2135786 | PAX3 | c.321+3G>A (n.321+3G>A) n.702+3G>A c.465+3G>A (n.465+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296976_222297003del | CA2586971541 | PAX3 | c.297_321+3del n.678_702+3del c.441_465+3del | |
2 | g.222296976A>C | CA351113337 | PAX3 | c.321+2T>G (n.321+2T>G) n.702+2T>G c.465+2T>G (n.465+2T>G) | |
2 | g.222296976A>G | CA351113338 | PAX3 | c.321+2T>C (n.321+2T>C) n.702+2T>C c.465+2T>C (n.465+2T>C) | |
2 | g.222296976A>T | CA351113339 | PAX3 | c.321+2T>A (n.321+2T>A) n.702+2T>A c.465+2T>A (n.465+2T>A) | |
2 | g.222296977C>A | CA351113341 | PAX3 | c.321+1G>T (n.321+1G>T) n.702+1G>T c.465+1G>T (n.465+1G>T) | |
2 | g.222296977C>G | CA351113342 | PAX3 | c.321+1G>C (n.321+1G>C) n.702+1G>C c.465+1G>C (n.465+1G>C) | |
2 | g.222296977C>T | CA351113340 | PAX3 | c.321+1G>A (n.321+1G>A) n.702+1G>A c.465+1G>A (n.465+1G>A) | |
2 | g.222296978C>A | CA351113343 | PAX3 | c.321G>T (p.Lys107Asn) n.702G>T c.465G>T (p.Lys155Asn) | gnomAD v4 |
2 | g.222296978C>G | CA351113344 | PAX3 | c.321G>C (p.Lys107Asn) n.702G>C c.465G>C (p.Lys155Asn) | |
2 | g.222296978C>T | CA431575869 | PAX3 | c.321G>A (p.Lys107=) n.702G>A c.465G>A (p.Lys155=) | |
2 | g.222296979T>A | CA351113345 | PAX3 | c.320A>T (p.Lys107Met) n.701A>T c.464A>T (p.Lys155Met) | |
2 | g.222296979T>C | CA351113346 | PAX3 | c.320A>G (p.Lys107Arg) n.701A>G c.464A>G (p.Lys155Arg) | gnomAD v4 |
2 | g.222296979T>G | CA351113347 | PAX3 | c.320A>C (p.Lys107Thr) n.701A>C c.464A>C (p.Lys155Thr) | |
2 | g.222296980T>A | CA351113349 | PAX3 | c.319A>T (p.Lys107Ter) n.700A>T c.463A>T (p.Lys155Ter) | |
2 | g.222296980T>C | CA351113348 | PAX3 | c.319A>G (p.Lys107Glu) n.700A>G c.463A>G (p.Lys155Glu) | gnomAD v4 |
2 | g.222296980T>G | CA66340691 | PAX3 | c.319A>C (p.Lys107Gln) n.700A>C c.463A>C (p.Lys155Gln) | dbSNP |
2 | g.222296980T= | CA1330546482 | PAX3 | c.319A= (p.Lys107=) n.700A= c.463A= (p.Lys155=) | |
2 | g.222296981G>A | CA431575870 | PAX3 | c.318C>T (p.Pro106=) n.699C>T c.462C>T (p.Pro154=) | gnomAD v4 |
2 | g.222296981G>C | CA431575871 | PAX3 | c.318C>G (p.Pro106=) n.699C>G c.462C>G (p.Pro154=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222296981G= | CA1330546483 | PAX3 | c.318C= (p.Pro106=) n.699C= c.462C= (p.Pro154=) | |
2 | g.222296981G>T | CA431575872 | PAX3 | c.318C>A (p.Pro106=) n.699C>A c.462C>A (p.Pro154=) | |
2 | g.222296983del | CA2586971542 | PAX3 | c.318del (p.Lys107SerfsTer3) n.699del c.318del (p.Lys107ArgfsTer2) c.462del (p.Lys155SerfsTer3) | |
2 | g.222296982G>A | CA351113350 | PAX3 | c.317C>T (p.Pro106Leu) n.698C>T c.461C>T (p.Pro154Leu) | ClinVar |
2 | g.222296982G>C | CA351113351 | PAX3 | c.317C>G (p.Pro106Arg) n.698C>G c.461C>G (p.Pro154Arg) | |
2 | g.222296982G>T | CA351113352 | PAX3 | c.317C>A (p.Pro106His) n.698C>A c.461C>A (p.Pro154His) | |
2 | g.222296983G>A | CA351113353 | PAX3 | c.316C>T (p.Pro106Ser) n.697C>T c.460C>T (p.Pro154Ser) | |
2 | g.222296983G>C | CA2135787 | PAX3 | c.316C>G (p.Pro106Ala) n.697C>G c.460C>G (p.Pro154Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222296983G= | CA1330546484 | PAX3 | c.316C= (p.Pro106=) n.697C= c.460C= (p.Pro154=) | |
2 | g.222296983G>T | CA351113354 | PAX3 | c.316C>A (p.Pro106Thr) n.697C>A c.460C>A (p.Pro154Thr) | dbSNP |
2 | g.222296984C>A | CA351113355 | PAX3 | c.315G>T (p.Lys105Asn) n.696G>T c.459G>T (p.Lys153Asn) | |
2 | g.222296984C>G | CA351113356 | PAX3 | c.315G>C (p.Lys105Asn) n.696G>C c.459G>C (p.Lys153Asn) | |
2 | g.222296984C>T | CA431575873 | PAX3 | c.315G>A (p.Lys105=) n.696G>A c.459G>A (p.Lys153=) | |
2 | g.222296985T>A | CA351113357 | PAX3 | c.314A>T (p.Lys105Met) n.695A>T c.458A>T (p.Lys153Met) | |
2 | g.222296985T>C | CA351113358 | PAX3 | c.314A>G (p.Lys105Arg) n.695A>G c.458A>G (p.Lys153Arg) | |
2 | g.222296985T>G | CA351113359 | PAX3 | c.314A>C (p.Lys105Thr) n.695A>C c.458A>C (p.Lys153Thr) | |
2 | g.222296985T= | CA1330546485 | PAX3 | c.314A= (p.Lys105=) n.695A= c.458A= (p.Lys153=) | |
2 | g.222296986T>A | CA351113360 | PAX3 | c.313A>T (p.Lys105Ter) n.694A>T c.457A>T (p.Lys153Ter) | |
2 | g.222296986T>C | CA351113361 | PAX3 | c.313A>G (p.Lys105Glu) n.694A>G c.457A>G (p.Lys153Glu) | |
2 | g.222296986T>G | CA351113362 | PAX3 | c.313A>C (p.Lys105Gln) n.694A>C c.457A>C (p.Lys153Gln) | |
2 | g.222296989_222296991dup | CA2135788 | PAX3 | c.311_313dup (p.Ser104_Lys105insSer) n.692_694dup c.455_457dup (p.Ser152_Lys153insSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222296987G>A | CA431575874 | PAX3 | c.312C>T (p.Ser104=) n.693C>T c.456C>T (p.Ser152=) | |
2 | g.222296987G>C | CA351113363 | PAX3 | c.312C>G (p.Ser104Arg) n.693C>G c.456C>G (p.Ser152Arg) | |
2 | g.222296987G>T | CA351113364 | PAX3 | c.312C>A (p.Ser104Arg) n.693C>A c.456C>A (p.Ser152Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222296988C>A | CA351113365 | PAX3 | c.311G>T (p.Ser104Ile) n.692G>T c.455G>T (p.Ser152Ile) | |
2 | g.222296988C>G | CA351113366 | PAX3 | c.311G>C (p.Ser104Thr) n.692G>C c.455G>C (p.Ser152Thr) | |
2 | g.222296988C>T | CA351113367 | PAX3 | c.311G>A (p.Ser104Asn) n.692G>A c.455G>A (p.Ser152Asn) | |
2 | g.222296989T>A | CA351113369 | PAX3 | c.310A>T (p.Ser104Cys) n.691A>T c.454A>T (p.Ser152Cys) | |
2 | g.222296989T>C | CA351113370 | PAX3 | c.310A>G (p.Ser104Gly) n.691A>G c.454A>G (p.Ser152Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296989T>G | CA351113368 | PAX3 | c.310A>C (p.Ser104Arg) n.691A>C c.454A>C (p.Ser152Arg) | |
2 | g.222296989T= | CA1330546486 | PAX3 | c.310A= (p.Ser104=) n.691A= c.454A= (p.Ser152=) | |
2 | g.222296990G>A | CA431575875 | PAX3 | c.309C>T (p.Gly103=) n.690C>T c.453C>T (p.Gly151=) | |
2 | g.222296990G>C | CA431575876 | PAX3 | c.309C>G (p.Gly103=) n.690C>G c.453C>G (p.Gly151=) | |
2 | g.222296990G>T | CA431575877 | PAX3 | c.309C>A (p.Gly103=) n.690C>A c.453C>A (p.Gly151=) | |
2 | g.222296991C>A | CA351113371 | PAX3 | c.308G>T (p.Gly103Val) n.689G>T c.452G>T (p.Gly151Val) | |
2 | g.222296991C>G | CA351113372 | PAX3 | c.308G>C (p.Gly103Ala) n.689G>C c.452G>C (p.Gly151Ala) | |
2 | g.222296991C>T | CA351113373 | PAX3 | c.308G>A (p.Gly103Asp) n.689G>A c.452G>A (p.Gly151Asp) | |
2 | g.222296992C>A | CA351113374 | PAX3 | c.307G>T (p.Gly103Cys) n.688G>T c.451G>T (p.Gly151Cys) | |
2 | g.222296992C= | CA1330546487 | PAX3 | c.307G= (p.Gly103=) n.688G= c.451G= (p.Gly151=) | |
2 | g.222296992C>G | CA351113375 | PAX3 | c.307G>C (p.Gly103Arg) n.688G>C c.451G>C (p.Gly151Arg) | |
2 | g.222296992C>T | CA351113376 | PAX3 | c.307G>A (p.Gly103Ser) n.688G>A c.451G>A (p.Gly151Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296993G>A | CA431575879 | PAX3 | c.306C>T (p.Gly102=) n.687C>T c.450C>T (p.Gly150=) | gnomAD v4 |
2 | g.222296993G>C | CA431575881 | PAX3 | c.306C>G (p.Gly102=) n.687C>G c.450C>G (p.Gly150=) | |
2 | g.222296993G= | CA1330546488 | PAX3 | c.306C= (p.Gly102=) n.687C= c.450C= (p.Gly150=) | |
2 | g.222296993G>T | CA431575882 | PAX3 | c.306C>A (p.Gly102=) n.687C>A c.450C>A (p.Gly150=) | dbSNP gnomAD v4 |
2 | g.222296994C>A | CA351113377 | PAX3 | c.305G>T (p.Gly102Val) n.686G>T c.449G>T (p.Gly150Val) | |
2 | g.222296994C>G | CA351113379 | PAX3 | c.305G>C (p.Gly102Ala) n.686G>C c.449G>C (p.Gly150Ala) | |
2 | g.222296994C>T | CA351113378 | PAX3 | c.305G>A (p.Gly102Asp) n.686G>A c.449G>A (p.Gly150Asp) | |
2 | g.222296995C>A | CA351113380 | PAX3 | c.304G>T (p.Gly102Cys) n.685G>T c.448G>T (p.Gly150Cys) | |
2 | g.222296995C>G | CA351113381 | PAX3 | c.304G>C (p.Gly102Arg) n.685G>C c.448G>C (p.Gly150Arg) | |
2 | g.222296995C>T | CA351113382 | PAX3 | c.304G>A (p.Gly102Ser) n.685G>A c.448G>A (p.Gly150Ser) | gnomAD v4 |
2 | g.222296996G>A | CA431575883 | PAX3 | c.303C>T (p.Ile101=) n.684C>T c.447C>T (p.Ile149=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222296996G>C | CA351113383 | PAX3 | c.303C>G (p.Ile101Met) n.684C>G c.447C>G (p.Ile149Met) | |
2 | g.222296996G= | CA1330546489 | PAX3 | c.303C= (p.Ile101=) n.684C= c.447C= (p.Ile149=) | |
2 | g.222296996G>T | CA431575884 | PAX3 | c.303C>A (p.Ile101=) n.684C>A c.447C>A (p.Ile149=) | gnomAD v4 |
2 | g.222296997A>C | CA351113384 | PAX3 | c.302T>G (p.Ile101Ser) n.683T>G c.446T>G (p.Ile149Ser) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222296997A>G | CA351113386 | PAX3 | c.302T>C (p.Ile101Thr) n.683T>C c.446T>C (p.Ile149Thr) | |
2 | g.222296997A>T | CA351113385 | PAX3 | c.302T>A (p.Ile101Asn) n.683T>A c.446T>A (p.Ile149Asn) | gnomAD v4 |
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.222296998T>A | CA351113387 | PAX3 | c.301A>T (p.Ile101Phe) n.682A>T c.445A>T (p.Ile149Phe) | |
2 | g.222296998T>C | CA351113388 | PAX3 | c.301A>G (p.Ile101Val) n.682A>G c.445A>G (p.Ile149Val) | |
2 | g.222296998T>G | CA351113389 | PAX3 | c.301A>C (p.Ile101Leu) n.682A>C c.445A>C (p.Ile149Leu) | |
2 | g.222296999G>A | CA431575885 | PAX3 | c.300C>T (p.Ala100=) n.681C>T c.444C>T (p.Ala148=) | |
2 | g.222296999G>C | CA431575886 | PAX3 | c.300C>G (p.Ala100=) n.681C>G c.444C>G (p.Ala148=) | |
2 | g.222296999G>T | CA431575887 | PAX3 | c.300C>A (p.Ala100=) n.681C>A c.444C>A (p.Ala148=) | |
2 | g.222297000G>A | CA351113390 | PAX3 | c.299C>T (p.Ala100Val) n.680C>T c.443C>T (p.Ala148Val) | |
2 | g.222297000G>C | CA351113391 | PAX3 | c.299C>G (p.Ala100Gly) n.680C>G c.443C>G (p.Ala148Gly) | |
2 | g.222297000G>T | CA351113392 | PAX3 | c.299C>A (p.Ala100Asp) n.680C>A c.443C>A (p.Ala148Asp) | |
2 | g.222297001C>A | CA351113393 | PAX3 | c.298G>T (p.Ala100Ser) n.679G>T c.442G>T (p.Ala148Ser) | |
2 | g.222297001C>G | CA351113394 | PAX3 | c.298G>C (p.Ala100Pro) n.679G>C c.442G>C (p.Ala148Pro) | |
2 | g.222297001C>T | CA351113395 | PAX3 | c.298G>A (p.Ala100Thr) n.679G>A c.442G>A (p.Ala148Thr) | |
2 | g.222297002A= | CA1330546490 | PAX3 | c.297T= (p.Gly99=) n.678T= c.441T= (p.Gly147=) | |
2 | g.222297002A>C | CA2135789 | PAX3 | c.297T>G (p.Gly99=) n.678T>G c.441T>G (p.Gly147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297002A>G | CA431575888 | PAX3 | c.297T>C (p.Gly99=) n.678T>C c.441T>C (p.Gly147=) | |
2 | g.222297002A>T | CA431575889 | PAX3 | c.297T>A (p.Gly99=) n.678T>A c.441T>A (p.Gly147=) | |
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) |