| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688838_48688927del | CA2693644759 | WAS | n.354_443del c.1110_1199del (p.Pro371_Pro400del) c.954_1043del (p.Pro319_Pro348del) | gnomAD v4 |
| X | g.48688916_48688927dup | CA2693644934 | WAS | n.432_443dup c.1188_1199dup (p.Pro400_Pro401insProProProPro) c.1032_1043dup (p.Pro348_Pro349insProProProPro) | gnomAD v4 |
| X | g.48688916_48688927del | CA2695233784 | WAS | n.432_443del c.1188_1199del (p.Pro397_Pro400del) c.1032_1043del (p.Pro345_Pro348del) | |
| X | g.48688913_48688927del | CA516356337 | WAS | n.429_443del c.1185_1199del (p.Pro396_Pro400del) c.1029_1043del (p.Pro344_Pro348del) | |
| X | g.48688925_48688933dup | CA10404045 | WAS | n.441_449dup c.1197_1205dup (p.Pro402_Pro403insProProPro) c.1041_1049dup (p.Pro350_Pro351insProProPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688925_48688933del | CA342890 | WAS | n.441_449del c.1197_1205del (p.Pro400_Pro402del) c.1041_1049del (p.Pro348_Pro350del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688922_48688936del | CA2693644960 | WAS | n.438_452del c.1194_1208del (p.Pro399_Pro403del) c.1038_1052del (p.Pro347_Pro351del) | gnomAD v4 |
| X | g.48688931_48688936dup | CA2693644986 | WAS | n.447_452dup c.1203_1208dup (p.Pro403_Pro404insProPro) c.1047_1052dup (p.Pro351_Pro352insProPro) | gnomAD v4 |
| X | g.48688931_48688936del | CA2693644988 | WAS | n.447_452del c.1203_1208del (p.Pro402_Pro403del) c.1047_1052del (p.Pro350_Pro351del) | gnomAD v4 |
| X | g.48688926C>A | CA412873482 | WAS | n.442C>A c.1198C>A (p.Pro400Thr) c.1042C>A (p.Pro348Thr) | |
| X | g.48688926C= | CA2428355757 | WAS | n.442C= c.1198C= (p.Pro400=) c.1042C= (p.Pro348=) | |
| X | g.48688926C>G | CA412873483 | WAS | n.442C>G c.1198C>G (p.Pro400Ala) c.1042C>G (p.Pro348Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688926C>T | CA412873484 | WAS | n.442C>T c.1198C>T (p.Pro400Ser) c.1042C>T (p.Pro348Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688931_48688939dup | CA2428355756 | WAS | n.447_455dup c.1203_1211dup (p.Pro404_Ser405insProProPro) c.1047_1055dup (p.Pro352_Ser353insProProPro) | ClinVar dbSNP gnomAD v4 |
| X | g.48688927C>A | CA412873485 | WAS | n.443C>A c.1199C>A (p.Pro400Gln) c.1043C>A (p.Pro348Gln) | |
| X | g.48688927C= | CA2428355758 | WAS | n.443C= c.1199C= (p.Pro400=) c.1043C= (p.Pro348=) | |
| X | g.48688927C>G | CA412873486 | WAS | n.443C>G c.1199C>G (p.Pro400Arg) c.1043C>G (p.Pro348Arg) | |
| X | g.48688927C>T | CA10404048 | WAS | n.443C>T c.1199C>T (p.Pro400Leu) c.1043C>T (p.Pro348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688928G>A | CA10404049 | WAS | n.444G>A c.1200G>A (p.Pro400=) c.1044G>A (p.Pro348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688928G>C | CA516356380 | WAS | n.444G>C c.1200G>C (p.Pro400=) c.1044G>C (p.Pro348=) | dbSNP |
| X | g.48688928G= | CA2428355759 | WAS | n.444G= c.1200G= (p.Pro400=) c.1044G= (p.Pro348=) | |
| X | g.48688928G>T | CA516356381 | WAS | n.444G>T c.1200G>T (p.Pro400=) c.1044G>T (p.Pro348=) | |
| X | g.48688929C>A | CA412873487 | WAS | n.445C>A c.1201C>A (p.Pro401Thr) c.1045C>A (p.Pro349Thr) | |
| X | g.48688929C>G | CA412873489 | WAS | n.445C>G c.1201C>G (p.Pro401Ala) c.1045C>G (p.Pro349Ala) | |
| X | g.48688929C>T | CA412873488 | WAS | n.445C>T c.1201C>T (p.Pro401Ser) c.1045C>T (p.Pro349Ser) | |
| X | g.48688932_48688941del | CA2695233786 | WAS | n.448_457del c.1204_1213del (p.Pro402AlafsTer?) c.1048_1057del (p.Pro350AlafsTer?) | |
| X | g.48688930C>A | CA412873490 | WAS | n.446C>A c.1202C>A (p.Pro401Gln) c.1046C>A (p.Pro349Gln) | gnomAD v4 |
| X | g.48688930C>G | CA412873491 | WAS | n.446C>G c.1202C>G (p.Pro401Arg) c.1046C>G (p.Pro349Arg) | |
| X | g.48688930C>T | CA412873492 | WAS | n.446C>T c.1202C>T (p.Pro401Leu) c.1046C>T (p.Pro349Leu) | |
| X | g.48688931del | CA2580101064 | WAS | n.447del c.1203del (p.Pro402ArgfsTer?) c.1047del (p.Pro350ArgfsTer?) | ClinVar |
| X | g.48688931A= | CA2428355760 | WAS | n.447A= c.1203A= (p.Pro401=) c.1047A= (p.Pro349=) | |
| X | g.48688931A>C | CA516356384 | WAS | n.447A>C c.1203A>C (p.Pro401=) c.1047A>C (p.Pro349=) | dbSNP |
| X | g.48688931A>G | CA10404050 | WAS | n.447A>G c.1203A>G (p.Pro401=) c.1047A>G (p.Pro349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688931A>T | CA516356385 | WAS | n.447A>T c.1203A>T (p.Pro401=) c.1047A>T (p.Pro349=) | |
| X | g.48688932C>A | CA412873493 | WAS | n.448C>A c.1204C>A (p.Pro402Thr) c.1048C>A (p.Pro350Thr) | |
| X | g.48688932C>G | CA412873494 | WAS | n.448C>G c.1204C>G (p.Pro402Ala) c.1048C>G (p.Pro350Ala) | |
| X | g.48688932C>T | CA412873495 | WAS | n.448C>T c.1204C>T (p.Pro402Ser) c.1048C>T (p.Pro350Ser) | |
| X | g.48688934_48688939dup | CA2693645009 | WAS | n.450_455dup c.1206_1211dup (p.Pro404_Ser405insProPro) c.1050_1055dup (p.Pro352_Ser353insProPro) | gnomAD v4 |
| X | g.48688934_48688939del | CA2579600725 | WAS | n.450_455del c.1206_1211del (p.Pro403_Pro404del) c.1050_1055del (p.Pro351_Pro352del) | |
| X | g.48688933C>A | CA412873496 | WAS | n.449C>A c.1205C>A (p.Pro402Gln) c.1049C>A (p.Pro350Gln) | |
| X | g.48688933C= | CA2428355761 | WAS | n.449C= c.1205C= (p.Pro402=) c.1049C= (p.Pro350=) | |
| X | g.48688933C>G | CA412873497 | WAS | n.449C>G c.1205C>G (p.Pro402Arg) c.1049C>G (p.Pro350Arg) | |
| X | g.48688933C>T | CA412873498 | WAS | n.449C>T c.1205C>T (p.Pro402Leu) c.1049C>T (p.Pro350Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688934G>A | CA516356389 | WAS | n.450G>A c.1206G>A (p.Pro402=) c.1050G>A (p.Pro350=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688934G>C | CA516356390 | WAS | n.450G>C c.1206G>C (p.Pro402=) c.1050G>C (p.Pro350=) | dbSNP |
| X | g.48688934G= | CA2428355762 | WAS | n.450G= c.1206G= (p.Pro402=) c.1050G= (p.Pro350=) | |
| X | g.48688934G>T | CA516356391 | WAS | n.450G>T c.1206G>T (p.Pro402=) c.1050G>T (p.Pro350=) | |
| X | g.48688935C>A | CA412873499 | WAS | n.451C>A c.1207C>A (p.Pro403Thr) c.1051C>A (p.Pro351Thr) | gnomAD v4 |
| X | g.48688935C>G | CA412873500 | WAS | n.451C>G c.1207C>G (p.Pro403Ala) c.1051C>G (p.Pro351Ala) | |
| X | g.48688935C>T | CA412873501 | WAS | n.451C>T c.1207C>T (p.Pro403Ser) c.1051C>T (p.Pro351Ser) | |
| X | g.48688936C>A | CA412873502 | WAS | n.452C>A c.1208C>A (p.Pro403Gln) c.1052C>A (p.Pro351Gln) | gnomAD v4 |
| X | g.48688936C= | CA2428355763 | WAS | n.452C= c.1208C= (p.Pro403=) c.1052C= (p.Pro351=) | |
| X | g.48688936C>G | CA412873503 | WAS | n.452C>G c.1208C>G (p.Pro403Arg) c.1052C>G (p.Pro351Arg) | |
| X | g.48688936C>T | CA10404051 | WAS | n.452C>T c.1208C>T (p.Pro403Leu) c.1052C>T (p.Pro351Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688937G>A | CA10404052 | WAS | n.453G>A c.1209G>A (p.Pro403=) c.1053G>A (p.Pro351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688937G>C | CA516356395 | WAS | n.453G>C c.1209G>C (p.Pro403=) c.1053G>C (p.Pro351=) | dbSNP |
| X | g.48688937G= | CA2428355764 | WAS | n.453G= c.1209G= (p.Pro403=) c.1053G= (p.Pro351=) | |
| X | g.48688937G>T | CA516356396 | WAS | n.453G>T c.1209G>T (p.Pro403=) c.1053G>T (p.Pro351=) | |
| X | g.48688938C>A | CA412873504 | WAS | n.454C>A c.1210C>A (p.Pro404Thr) c.1054C>A (p.Pro352Thr) | |
| X | g.48688938C>G | CA412873505 | WAS | n.454C>G c.1210C>G (p.Pro404Ala) c.1054C>G (p.Pro352Ala) | |
| X | g.48688938C>T | CA412873506 | WAS | n.454C>T c.1210C>T (p.Pro404Ser) c.1054C>T (p.Pro352Ser) | |
| X | g.48688939C>A | CA412873507 | WAS | n.455C>A c.1211C>A (p.Pro404His) c.1055C>A (p.Pro352His) | |
| X | g.48688939C= | CA2428355765 | WAS | n.455C= c.1211C= (p.Pro404=) c.1055C= (p.Pro352=) | |
| X | g.48688939C>G | CA412873508 | WAS | n.455C>G c.1211C>G (p.Pro404Arg) c.1055C>G (p.Pro352Arg) | gnomAD v4 |
| X | g.48688939C>T | CA412873509 | WAS | n.455C>T c.1211C>T (p.Pro404Leu) c.1055C>T (p.Pro352Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688939_48688940insGC | CA2695233787 | WAS | n.455_456insGC c.1211_1212insGC (p.Ser405ProfsTer?) c.1055_1056insGC (p.Ser353ProfsTer?) | |
| X | g.48688940C>A | CA516356402 | WAS | n.456C>A c.1212C>A (p.Pro404=) c.1056C>A (p.Pro352=) | |
| X | g.48688940C>G | CA516356401 | WAS | n.456C>G c.1212C>G (p.Pro404=) c.1056C>G (p.Pro352=) | |
| X | g.48688940C>T | CA516356400 | WAS | n.456C>T c.1212C>T (p.Pro404=) c.1056C>T (p.Pro352=) | |
| X | g.48688941A>C | CA412873510 | WAS | n.457A>C c.1213A>C (p.Ser405Arg) c.1057A>C (p.Ser353Arg) | dbSNP |
| X | g.48688941A>G | CA412873511 | WAS | n.457A>G c.1213A>G (p.Ser405Gly) c.1057A>G (p.Ser353Gly) | |
| X | g.48688941A>T | CA412873512 | WAS | n.457A>T c.1213A>T (p.Ser405Cys) c.1057A>T (p.Ser353Cys) | |
| X | g.48688942G>A | CA412873514 | WAS | n.458G>A c.1214G>A (p.Ser405Asn) c.1058G>A (p.Ser353Asn) | |
| X | g.48688942G>C | CA412873515 | WAS | n.458G>C c.1214G>C (p.Ser405Thr) c.1058G>C (p.Ser353Thr) | dbSNP |
| X | g.48688942G>T | CA412873513 | WAS | n.458G>T c.1214G>T (p.Ser405Ile) c.1058G>T (p.Ser353Ile) | |
| X | g.48688943C>A | CA412873516 | WAS | n.459C>A c.1215C>A (p.Ser405Arg) c.1059C>A (p.Ser353Arg) | gnomAD v4 |
| X | g.48688943C>G | CA412873517 | WAS | n.459C>G c.1215C>G (p.Ser405Arg) c.1059C>G (p.Ser353Arg) | |
| X | g.48688943C>T | CA516356407 | WAS | n.459C>T c.1215C>T (p.Ser405=) c.1059C>T (p.Ser353=) | |
| X | g.48688944T>A | CA412873518 | WAS | n.460T>A c.1216T>A (p.Ser406Thr) c.1060T>A (p.Ser354Thr) | dbSNP |
| X | g.48688944T>C | CA412873519 | WAS | n.460T>C c.1216T>C (p.Ser406Pro) c.1060T>C (p.Ser354Pro) | |
| X | g.48688944T>G | CA412873520 | WAS | n.460T>G c.1216T>G (p.Ser406Ala) c.1060T>G (p.Ser354Ala) | |
| X | g.48688944T= | CA2428355766 | WAS | n.460T= c.1216T= (p.Ser406=) c.1060T= (p.Ser354=) | |
| X | g.48688945C>A | CA412873523 | WAS | n.461C>A c.1217C>A (p.Ser406Tyr) c.1061C>A (p.Ser354Tyr) | |
| X | g.48688945C>G | CA412873522 | WAS | n.461C>G c.1217C>G (p.Ser406Cys) c.1061C>G (p.Ser354Cys) | |
| X | g.48688945C>T | CA412873521 | WAS | n.461C>T c.1217C>T (p.Ser406Phe) c.1061C>T (p.Ser354Phe) | |
| X | g.48688947_48688963dup | CA16621419 | WAS | n.463_479dup c.1219_1235dup (p.Pro413GlyfsTer?) c.1063_1079dup (p.Pro361GlyfsTer?) | ClinVar dbSNP |
| X | g.48688947_48688963del | CA2695233788 | WAS | n.463_479del c.1219_1235del (p.Gly407SerfsTer?) c.1063_1079del (p.Gly355SerfsTer?) | |
| X | g.48688946C>A | CA516356411 | WAS | n.462C>A c.1218C>A (p.Ser406=) c.1062C>A (p.Ser354=) | gnomAD v4 |
| X | g.48688946C= | CA2428355767 | WAS | n.462C= c.1218C= (p.Ser406=) c.1062C= (p.Ser354=) | |
| X | g.48688946C>G | CA516356412 | WAS | n.462C>G c.1218C>G (p.Ser406=) c.1062C>G (p.Ser354=) | |
| X | g.48688946C>T | CA10404053 | WAS | n.462C>T c.1218C>T (p.Ser406=) c.1062C>T (p.Ser354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688947G>A | CA10404054 | WAS | n.463G>A c.1219G>A (p.Gly407Arg) c.1063G>A (p.Gly355Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688947G>C | CA412873524 | WAS | n.463G>C c.1219G>C (p.Gly407Arg) c.1063G>C (p.Gly355Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688947G= | CA2428355768 | WAS | n.463G= c.1219G= (p.Gly407=) c.1063G= (p.Gly355=) | |
| X | g.48688947G>T | CA412873525 | WAS | n.463G>T c.1219G>T (p.Gly407Trp) c.1063G>T (p.Gly355Trp) | gnomAD v4 |
| X | g.48688948_48688949dup | CA2695233789 | WAS | n.464_465dup c.1220_1221dup (p.Asn408GlyfsTer?) c.1064_1065dup (p.Asn356GlyfsTer?) | |
| X | g.48688949del | CA2580101065 | WAS | n.465del c.1221del (p.Asn408MetfsTer?) c.1065del (p.Asn356MetfsTer?) | ClinVar |
| X | g.48688948G>A | CA412873526 | WAS | n.464G>A c.1220G>A (p.Gly407Glu) c.1064G>A (p.Gly355Glu) | |
| X | g.48688948G>C | CA412873527 | WAS | n.464G>C c.1220G>C (p.Gly407Ala) c.1064G>C (p.Gly355Ala) | |
| X | g.48688948G>T | CA412873528 | WAS | n.464G>T c.1220G>T (p.Gly407Val) c.1064G>T (p.Gly355Val) | gnomAD v4 |
| X | g.48688949G>A | CA516356416 | WAS | n.465G>A c.1221G>A (p.Gly407=) c.1065G>A (p.Gly355=) | |
| X | g.48688949G>C | CA516356417 | WAS | n.465G>C c.1221G>C (p.Gly407=) c.1065G>C (p.Gly355=) | |
| X | g.48688949G>T | CA516356418 | WAS | n.465G>T c.1221G>T (p.Gly407=) c.1065G>T (p.Gly355=) | |
| X | g.48688950A>C | CA412873529 | WAS | n.466A>C c.1222A>C (p.Asn408His) c.1066A>C (p.Asn356His) | |
| X | g.48688950A>G | CA412873531 | WAS | n.466A>G c.1222A>G (p.Asn408Asp) c.1066A>G (p.Asn356Asp) | |
| X | g.48688950A>T | CA412873530 | WAS | n.466A>T c.1222A>T (p.Asn408Tyr) c.1066A>T (p.Asn356Tyr) | gnomAD v4 |
| X | g.48688951A>C | CA412873532 | WAS | n.467A>C c.1223A>C (p.Asn408Thr) c.1067A>C (p.Asn356Thr) | |
| X | g.48688951A>G | CA412873533 | WAS | n.467A>G c.1223A>G (p.Asn408Ser) c.1067A>G (p.Asn356Ser) | |
| X | g.48688951A>T | CA412873534 | WAS | n.467A>T c.1223A>T (p.Asn408Ile) c.1067A>T (p.Asn356Ile) | |
| X | g.48688951_48688952del | CA2695233790 | WAS | n.467_468del c.1223_1224del (p.Asn408ArgfsTer?) c.1067_1068del (p.Asn356ArgfsTer?) | |
| X | g.48688952T>A | CA412873535 | WAS | n.468T>A c.1224T>A (p.Asn408Lys) c.1068T>A (p.Asn356Lys) | |
| X | g.48688952T>C | CA516356422 | WAS | n.468T>C c.1224T>C (p.Asn408=) c.1068T>C (p.Asn356=) | |
| X | g.48688952T>G | CA412873536 | WAS | n.468T>G c.1224T>G (p.Asn408Lys) c.1068T>G (p.Asn356Lys) | |
| X | g.48688953G>A | CA412873537 | WAS | n.469G>A c.1225G>A (p.Gly409Arg) c.1069G>A (p.Gly357Arg) | gnomAD v4 |
| X | g.48688953G>C | CA412873538 | WAS | n.469G>C c.1225G>C (p.Gly409Arg) c.1069G>C (p.Gly357Arg) | |
| X | g.48688953G>T | CA412873539 | WAS | n.469G>T c.1225G>T (p.Gly409Ter) c.1069G>T (p.Gly357Ter) | gnomAD v4 |
| X | g.48688954G>A | CA10404055 | WAS | n.470G>A c.1226G>A (p.Gly409Glu) c.1070G>A (p.Gly357Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688954G>C | CA412873540 | WAS | n.470G>C c.1226G>C (p.Gly409Ala) c.1070G>C (p.Gly357Ala) | |
| X | g.48688954G= | CA2428355769 | WAS | n.470G= c.1226G= (p.Gly409=) c.1070G= (p.Gly357=) | |
| X | g.48688954G>T | CA412873541 | WAS | n.470G>T c.1226G>T (p.Gly409Val) c.1070G>T (p.Gly357Val) | |
| X | g.48688955A= | CA2428355770 | WAS | n.471A= c.1227A= (p.Gly409=) c.1071A= (p.Gly357=) | |
| X | g.48688955A>C | CA10404056 | WAS | n.471A>C c.1227A>C (p.Gly409=) c.1071A>C (p.Gly357=) | dbSNP ExAC gnomAD v4 |
| X | g.48688955A>G | CA516356426 | WAS | n.471A>G c.1227A>G (p.Gly409=) c.1071A>G (p.Gly357=) | |
| X | g.48688955A>T | CA516356427 | WAS | n.471A>T c.1227A>T (p.Gly409=) c.1071A>T (p.Gly357=) | |
| X | g.48688956C>A | CA412873542 | WAS | n.472C>A c.1228C>A (p.Pro410Thr) c.1072C>A (p.Pro358Thr) | |
| X | g.48688956C>G | CA412873544 | WAS | n.472C>G c.1228C>G (p.Pro410Ala) c.1072C>G (p.Pro358Ala) | |
| X | g.48688956C>T | CA412873543 | WAS | n.472C>T c.1228C>T (p.Pro410Ser) c.1072C>T (p.Pro358Ser) | |
| X | g.48688957C>A | CA412873545 | WAS | n.473C>A c.1229C>A (p.Pro410Gln) c.1073C>A (p.Pro358Gln) | gnomAD v4 |
| X | g.48688957C= | CA2428355771 | WAS | n.473C= c.1229C= (p.Pro410=) c.1073C= (p.Pro358=) | |
| X | g.48688957C>G | CA412873546 | WAS | n.473C>G c.1229C>G (p.Pro410Arg) c.1073C>G (p.Pro358Arg) | ClinVar dbSNP |
| X | g.48688957C>T | CA412873547 | WAS | n.473C>T c.1229C>T (p.Pro410Leu) c.1073C>T (p.Pro358Leu) | |
| X | g.48688958A>C | CA516356431 | WAS | n.474A>C c.1230A>C (p.Pro410=) c.1074A>C (p.Pro358=) | |
| X | g.48688958A>G | CA516356432 | WAS | n.474A>G c.1230A>G (p.Pro410=) c.1074A>G (p.Pro358=) | |
| X | g.48688958A>T | CA516356433 | WAS | n.474A>T c.1230A>T (p.Pro410=) c.1074A>T (p.Pro358=) | |
| X | g.48688959G>A | CA412873548 | WAS | n.475G>A c.1231G>A (p.Ala411Thr) c.1075G>A (p.Ala359Thr) | dbSNP |
| X | g.48688959G>C | CA412873549 | WAS | n.475G>C c.1231G>C (p.Ala411Pro) c.1075G>C (p.Ala359Pro) | |
| X | g.48688959G= | CA2428355772 | WAS | n.475G= c.1231G= (p.Ala411=) c.1075G= (p.Ala359=) | |
| X | g.48688959G>T | CA412873550 | WAS | n.475G>T c.1231G>T (p.Ala411Ser) c.1075G>T (p.Ala359Ser) | |
| X | g.48688960C>A | CA412873551 | WAS | n.476C>A c.1232C>A (p.Ala411Asp) c.1076C>A (p.Ala359Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688960C= | CA2428355773 | WAS | n.476C= c.1232C= (p.Ala411=) c.1076C= (p.Ala359=) | |
| X | g.48688960C>G | CA412873552 | WAS | n.476C>G c.1232C>G (p.Ala411Gly) c.1076C>G (p.Ala359Gly) | |
| X | g.48688960C>T | CA10404057 | WAS | n.476C>T c.1232C>T (p.Ala411Val) c.1076C>T (p.Ala359Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688960_48688961delinsG | CA2695233792 | WAS | n.476_477delinsG c.1232_1233delinsG (p.Ala411GlyfsTer?) c.1076_1077delinsG (p.Ala359GlyfsTer?) | |
| X | g.48688963dup | CA2695233794 | WAS | n.479dup c.1235dup (p.Pro413SerfsTer?) c.1079dup (p.Pro361SerfsTer?) | |
| X | g.48688962_48688963dup | CA2695233793 | WAS | n.478_479dup c.1234_1235dup (p.Pro413LeufsTer?) c.1078_1079dup (p.Pro361LeufsTer?) | |
| X | g.48688963del | CA2695233791 | WAS | n.479del c.1235del (p.Pro412LeufsTer?) c.1079del (p.Pro360LeufsTer?) | |
| X | g.48688961C>A | CA516356438 | WAS | n.477C>A c.1233C>A (p.Ala411=) c.1077C>A (p.Ala359=) | gnomAD v4 |
| X | g.48688961C>G | CA516356436 | WAS | n.477C>G c.1233C>G (p.Ala411=) c.1077C>G (p.Ala359=) | |
| X | g.48688961C>T | CA516356437 | WAS | n.477C>T c.1233C>T (p.Ala411=) c.1077C>T (p.Ala359=) | gnomAD v4 |
| X | g.48688962C>A | CA412873553 | WAS | n.478C>A c.1234C>A (p.Pro412Thr) c.1078C>A (p.Pro360Thr) | |
| X | g.48688962C>G | CA412873554 | WAS | n.478C>G c.1234C>G (p.Pro412Ala) c.1078C>G (p.Pro360Ala) | |
| X | g.48688962C>T | CA412873555 | WAS | n.478C>T c.1234C>T (p.Pro412Ser) c.1078C>T (p.Pro360Ser) | |
| X | g.48688963C>A | CA412873558 | WAS | n.479C>A c.1235C>A (p.Pro412His) c.1079C>A (p.Pro360His) | |
| X | g.48688963C>G | CA412873557 | WAS | n.479C>G c.1235C>G (p.Pro412Arg) c.1079C>G (p.Pro360Arg) | |
| X | g.48688963C>T | CA412873556 | WAS | n.479C>T c.1235C>T (p.Pro412Leu) c.1079C>T (p.Pro360Leu) | |
| X | g.48688968_48688975del | CA2695233795 | WAS | n.484_491del c.1240_1247del (p.Pro414SerfsTer?) c.1084_1091del (p.Pro362SerfsTer?) | |
| X | g.48688964T>A | CA516356440 | WAS | n.480T>A c.1236T>A (p.Pro412=) c.1080T>A (p.Pro360=) | |
| X | g.48688964T>C | CA516356442 | WAS | n.480T>C c.1236T>C (p.Pro412=) c.1080T>C (p.Pro360=) | gnomAD v4 |
| X | g.48688964T>G | CA516356443 | WAS | n.480T>G c.1236T>G (p.Pro412=) c.1080T>G (p.Pro360=) | |
| X | g.48688965C>A | CA412873559 | WAS | n.481C>A c.1237C>A (p.Pro413Thr) c.1081C>A (p.Pro361Thr) | |
| X | g.48688965C>G | CA412873560 | WAS | n.481C>G c.1237C>G (p.Pro413Ala) c.1081C>G (p.Pro361Ala) | |
| X | g.48688965C>T | CA412873561 | WAS | n.481C>T c.1237C>T (p.Pro413Ser) c.1081C>T (p.Pro361Ser) | |
| X | g.48688969dup | CA2695233796 | WAS | n.485dup c.1241dup (p.Leu415ThrfsTer?) c.1085dup (p.Leu363ThrfsTer?) | |
| X | g.48688969del | CA2693645043 | WAS | n.485del c.1241del (p.Pro414HisfsTer?) c.1085del (p.Pro362HisfsTer?) | gnomAD v4 |
| X | g.48688966C>A | CA412873562 | WAS | n.482C>A c.1238C>A (p.Pro413His) c.1082C>A (p.Pro361His) | gnomAD v4 |
| X | g.48688966C>G | CA412873563 | WAS | n.482C>G c.1238C>G (p.Pro413Arg) c.1082C>G (p.Pro361Arg) | |
| X | g.48688966C>T | CA412873564 | WAS | n.482C>T c.1238C>T (p.Pro413Leu) c.1082C>T (p.Pro361Leu) | gnomAD v4 |
| X | g.48688967C>A | CA516356446 | WAS | n.483C>A c.1239C>A (p.Pro413=) c.1083C>A (p.Pro361=) | |
| X | g.48688967C>G | CA516356448 | WAS | n.483C>G c.1239C>G (p.Pro413=) c.1083C>G (p.Pro361=) | gnomAD v4 |
| X | g.48688967C>T | CA516356449 | WAS | n.483C>T c.1239C>T (p.Pro413=) c.1083C>T (p.Pro361=) | gnomAD v4 |
| X | g.48688968C>A | CA412873565 | WAS | n.484C>A c.1240C>A (p.Pro414Thr) c.1084C>A (p.Pro362Thr) | dbSNP |
| X | g.48688968C>G | CA412873566 | WAS | n.484C>G c.1240C>G (p.Pro414Ala) c.1084C>G (p.Pro362Ala) | |
| X | g.48688968C>T | CA412873567 | WAS | n.484C>T c.1240C>T (p.Pro414Ser) c.1084C>T (p.Pro362Ser) | dbSNP gnomAD v4 |
| X | g.48688969C>A | CA412873568 | WAS | n.485C>A c.1241C>A (p.Pro414Gln) c.1085C>A (p.Pro362Gln) | gnomAD v4 |
| X | g.48688969C= | CA2428355774 | WAS | n.485C= c.1241C= (p.Pro414=) c.1085C= (p.Pro362=) | |
| X | g.48688969C>G | CA329102421 | WAS | n.485C>G c.1241C>G (p.Pro414Arg) c.1085C>G (p.Pro362Arg) | dbSNP |
| X | g.48688969C>T | CA412873569 | WAS | n.485C>T c.1241C>T (p.Pro414Leu) c.1085C>T (p.Pro362Leu) | |
| X | g.48688970A>C | CA516356451 | WAS | n.486A>C c.1242A>C (p.Pro414=) c.1086A>C (p.Pro362=) | |
| X | g.48688970A>G | CA516356453 | WAS | n.486A>G c.1242A>G (p.Pro414=) c.1086A>G (p.Pro362=) | |
| X | g.48688970A>T | CA516356455 | WAS | n.486A>T c.1242A>T (p.Pro414=) c.1086A>T (p.Pro362=) | |
| X | g.48688970dup | CA2695233797 | WAS | n.486dup c.1242dup (p.Leu415ThrfsTer?) c.1086dup (p.Leu363ThrfsTer?) | |
| X | g.48688971C>A | CA412873572 | WAS | n.487C>A c.1243C>A (p.Leu415Ile) c.1087C>A (p.Leu363Ile) | |
| X | g.48688971C>G | CA412873571 | WAS | n.487C>G c.1243C>G (p.Leu415Val) c.1087C>G (p.Leu363Val) | |
| X | g.48688971C>T | CA412873570 | WAS | n.487C>T c.1243C>T (p.Leu415Phe) c.1087C>T (p.Leu363Phe) | |
| X | g.48688972T>A | CA412873573 | WAS | n.488T>A c.1244T>A (p.Leu415His) c.1088T>A (p.Leu363His) | |
| X | g.48688972T>C | CA10404058 | WAS | n.488T>C c.1244T>C (p.Leu415Pro) c.1088T>C (p.Leu363Pro) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.48688972T>G | CA412873574 | WAS | n.488T>G c.1244T>G (p.Leu415Arg) c.1088T>G (p.Leu363Arg) | |
| X | g.48688972T= | CA2428355775 | WAS | n.488T= c.1244T= (p.Leu415=) c.1088T= (p.Leu363=) | |
| X | g.48688973C>A | CA516356456 | WAS | n.489C>A c.1245C>A (p.Leu415=) c.1089C>A (p.Leu363=) | gnomAD v4 |
| X | g.48688973C= | CA2428355776 | WAS | n.489C= c.1245C= (p.Leu415=) c.1089C= (p.Leu363=) | |
| X | g.48688973C>G | CA516356457 | WAS | n.489C>G c.1245C>G (p.Leu415=) c.1089C>G (p.Leu363=) | |
| X | g.48688973C>T | CA516356458 | WAS | n.489C>T c.1245C>T (p.Leu415=) c.1089C>T (p.Leu363=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688974C>A | CA412873575 | WAS | n.490C>A c.1246C>A (p.Pro416Thr) c.1090C>A (p.Pro364Thr) | |
| X | g.48688974C>G | CA412873576 | WAS | n.490C>G c.1246C>G (p.Pro416Ala) c.1090C>G (p.Pro364Ala) | |
| X | g.48688974C>T | CA412873577 | WAS | n.490C>T c.1246C>T (p.Pro416Ser) c.1090C>T (p.Pro364Ser) | |
| X | g.48688975C>A | CA412873578 | WAS | n.491C>A c.1247C>A (p.Pro416His) c.1091C>A (p.Pro364His) | |
| X | g.48688975C= | CA2428355777 | WAS | n.491C= c.1247C= (p.Pro416=) c.1091C= (p.Pro364=) | |
| X | g.48688975C>G | CA412873579 | WAS | n.491C>G c.1247C>G (p.Pro416Arg) c.1091C>G (p.Pro364Arg) | |
| X | g.48688975C>T | CA412873580 | WAS | n.491C>T c.1247C>T (p.Pro416Leu) c.1091C>T (p.Pro364Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688976T>A | CA516356459 | WAS | n.492T>A c.1248T>A (p.Pro416=) c.1092T>A (p.Pro364=) | |
| X | g.48688976T>C | CA516356460 | WAS | n.492T>C c.1248T>C (p.Pro416=) c.1092T>C (p.Pro364=) | |
| X | g.48688976T>G | CA516356461 | WAS | n.492T>G c.1248T>G (p.Pro416=) c.1092T>G (p.Pro364=) | |
| X | g.48688977C>A | CA412873583 | WAS | n.493C>A c.1249C>A (p.Pro417Thr) c.1093C>A (p.Pro365Thr) | |
| X | g.48688977C>G | CA412873582 | WAS | n.493C>G c.1249C>G (p.Pro417Ala) c.1093C>G (p.Pro365Ala) | gnomAD v4 |
| X | g.48688977C>T | CA412873581 | WAS | n.493C>T c.1249C>T (p.Pro417Ser) c.1093C>T (p.Pro365Ser) | gnomAD v4 COSMIC |
| X | g.48688978C>A | CA412873584 | WAS | n.494C>A c.1250C>A (p.Pro417His) c.1094C>A (p.Pro365His) | |
| X | g.48688978C>G | CA412873585 | WAS | n.494C>G c.1250C>G (p.Pro417Arg) c.1094C>G (p.Pro365Arg) | |
| X | g.48688978C>T | CA412873586 | WAS | n.494C>T c.1250C>T (p.Pro417Leu) c.1094C>T (p.Pro365Leu) | |
| X | g.48688979T>A | CA516356462 | WAS | n.495T>A c.1251T>A (p.Pro417=) c.1095T>A (p.Pro365=) | |
| X | g.48688979T>C | CA516356463 | WAS | n.495T>C c.1251T>C (p.Pro417=) c.1095T>C (p.Pro365=) | |
| X | g.48688979T>G | CA516356464 | WAS | n.495T>G c.1251T>G (p.Pro417=) c.1095T>G (p.Pro365=) | |
| X | g.48688980G>A | CA412873587 | WAS | n.496G>A c.1252G>A (p.Ala418Thr) c.1096G>A (p.Ala366Thr) | ClinVar dbSNP |
| X | g.48688980G>C | CA412873588 | WAS | n.496G>C c.1252G>C (p.Ala418Pro) c.1096G>C (p.Ala366Pro) | |
| X | g.48688980G= | CA2428355778 | WAS | n.496G= c.1252G= (p.Ala418=) c.1096G= (p.Ala366=) | |
| X | g.48688980G>T | CA10404059 | WAS | n.496G>T c.1252G>T (p.Ala418Ser) c.1096G>T (p.Ala366Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688981C>A | CA412873590 | WAS | n.497C>A c.1253C>A (p.Ala418Asp) c.1097C>A (p.Ala366Asp) | gnomAD v4 |
| X | g.48688981C= | CA2428355779 | WAS | n.497C= c.1253C= (p.Ala418=) c.1097C= (p.Ala366=) | |
| X | g.48688981C>G | CA412873589 | WAS | n.497C>G c.1253C>G (p.Ala418Gly) c.1097C>G (p.Ala366Gly) | |
| X | g.48688981C>T | CA10404060 | WAS | n.497C>T c.1253C>T (p.Ala418Val) c.1097C>T (p.Ala366Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688982T>A | CA516356467 | WAS | n.498T>A c.1254T>A (p.Ala418=) c.1098T>A (p.Ala366=) | |
| X | g.48688982T>C | CA516356466 | WAS | n.498T>C c.1254T>C (p.Ala418=) c.1098T>C (p.Ala366=) | |
| X | g.48688982T>G | CA516356465 | WAS | n.498T>G c.1254T>G (p.Ala418=) c.1098T>G (p.Ala366=) | |
| X | g.48688983C>A | CA412873591 | WAS | n.499C>A c.1255C>A (p.Leu419Met) c.1099C>A (p.Leu367Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688983C= | CA2428355780 | WAS | n.499C= c.1255C= (p.Leu419=) c.1099C= (p.Leu367=) | |
| X | g.48688983C>G | CA412873592 | WAS | n.499C>G c.1255C>G (p.Leu419Val) c.1099C>G (p.Leu367Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688983C>T | CA516356468 | WAS | n.499C>T c.1255C>T (p.Leu419=) c.1099C>T (p.Leu367=) | |
| X | g.48688984T>A | CA412873593 | WAS | n.500T>A c.1256T>A (p.Leu419Gln) c.1100T>A (p.Leu367Gln) | |
| X | g.48688984T>C | CA412873594 | WAS | n.500T>C c.1256T>C (p.Leu419Pro) c.1100T>C (p.Leu367Pro) | |
| X | g.48688984T>G | CA412873595 | WAS | n.500T>G c.1256T>G (p.Leu419Arg) c.1100T>G (p.Leu367Arg) | |
| X | g.48688985G>A | CA516356469 | WAS | n.501G>A c.1257G>A (p.Leu419=) c.1101G>A (p.Leu367=) | |
| X | g.48688985G>C | CA516356470 | WAS | n.501G>C c.1257G>C (p.Leu419=) c.1101G>C (p.Leu367=) | |
| X | g.48688985G>T | CA516356471 | WAS | n.501G>T c.1257G>T (p.Leu419=) c.1101G>T (p.Leu367=) | gnomAD v4 |
| X | g.48688986G>A | CA412873598 | WAS | n.502G>A c.1258G>A (p.Val420Met) c.1102G>A (p.Val368Met) | gnomAD v4 |
| X | g.48688986G>C | CA412873597 | WAS | n.502G>C c.1258G>C (p.Val420Leu) c.1102G>C (p.Val368Leu) | |
| X | g.48688986G>T | CA412873596 | WAS | n.502G>T c.1258G>T (p.Val420Leu) c.1102G>T (p.Val368Leu) | |
| X | g.48688987T>A | CA412873599 | WAS | n.503T>A c.1259T>A (p.Val420Glu) c.1103T>A (p.Val368Glu) | |
| X | g.48688987T>C | CA412873600 | WAS | n.503T>C c.1259T>C (p.Val420Ala) c.1103T>C (p.Val368Ala) | ClinVar |
| X | g.48688987T>G | CA412873601 | WAS | n.503T>G c.1259T>G (p.Val420Gly) c.1103T>G (p.Val368Gly) | |
| X | g.48688988G>A | CA516356472 | WAS | n.504G>A c.1260G>A (p.Val420=) c.1104G>A (p.Val368=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688988G>C | CA516356474 | WAS | n.504G>C c.1260G>C (p.Val420=) c.1104G>C (p.Val368=) | |
| X | g.48688988G= | CA2428355781 | WAS | n.504G= c.1260G= (p.Val420=) c.1104G= (p.Val368=) | |
| X | g.48688988G>T | CA516356473 | WAS | n.504G>T c.1260G>T (p.Val420=) c.1104G>T (p.Val368=) | |
| X | g.48688993_48689003del | CA2695233798 | WAS | n.509_519del c.1265_1275del (p.Ala422GlyfsTer?) c.1109_1119del (p.Ala370GlyfsTer?) | |
| X | g.48688989C>A | CA412873602 | WAS | n.505C>A c.1261C>A (p.Pro421Thr) c.1105C>A (p.Pro369Thr) | |
| X | g.48688989C>G | CA412873603 | WAS | n.505C>G c.1261C>G (p.Pro421Ala) c.1105C>G (p.Pro369Ala) | |
| X | g.48688989C>T | CA412873604 | WAS | n.505C>T c.1261C>T (p.Pro421Ser) c.1105C>T (p.Pro369Ser) | gnomAD v4 COSMIC |
| X | g.48688990C>A | CA412873605 | WAS | n.506C>A c.1262C>A (p.Pro421His) c.1106C>A (p.Pro369His) | |
| X | g.48688990C>G | CA412873607 | WAS | n.506C>G c.1262C>G (p.Pro421Arg) c.1106C>G (p.Pro369Arg) | |
| X | g.48688990C>T | CA412873606 | WAS | n.506C>T c.1262C>T (p.Pro421Leu) c.1106C>T (p.Pro369Leu) | |
| X | g.48688991T>A | CA516356475 | WAS | n.507T>A c.1263T>A (p.Pro421=) c.1107T>A (p.Pro369=) | ClinVar |
| X | g.48688991T>C | CA516356477 | WAS | n.507T>C c.1263T>C (p.Pro421=) c.1107T>C (p.Pro369=) | |
| X | g.48688991T>G | CA516356476 | WAS | n.507T>G c.1263T>G (p.Pro421=) c.1107T>G (p.Pro369=) | |
| X | g.48688992G>A | CA412873608 | WAS | n.508G>A c.1264G>A (p.Ala422Thr) c.1108G>A (p.Ala370Thr) | |
| X | g.48688992G>C | CA412873609 | WAS | n.508G>C c.1264G>C (p.Ala422Pro) c.1108G>C (p.Ala370Pro) | |
| X | g.48688992G>T | CA412873610 | WAS | n.508G>T c.1264G>T (p.Ala422Ser) c.1108G>T (p.Ala370Ser) | |
| X | g.48688993C>A | CA412873611 | WAS | n.509C>A c.1265C>A (p.Ala422Asp) c.1109C>A (p.Ala370Asp) | gnomAD v4 |
| X | g.48688993C= | CA2428355782 | WAS | n.509C= c.1265C= (p.Ala422=) c.1109C= (p.Ala370=) | |
| X | g.48688993C>G | CA412873612 | WAS | n.509C>G c.1265C>G (p.Ala422Gly) c.1109C>G (p.Ala370Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688993C>T | CA412873613 | WAS | n.509C>T c.1265C>T (p.Ala422Val) c.1109C>T (p.Ala370Val) | gnomAD v4 COSMIC |
| X | g.48688994del | CA2580101067 | WAS | n.510del c.1266del (p.Gly424AlafsTer21) c.1110del (p.Gly372AlafsTer21) | ClinVar |
| X | g.48688994C>A | CA516356478 | WAS | n.510C>A c.1266C>A (p.Ala422=) c.1110C>A (p.Ala370=) | gnomAD v4 |
| X | g.48688994C= | CA2428355783 | WAS | n.510C= c.1266C= (p.Ala422=) c.1110C= (p.Ala370=) | |
| X | g.48688994C>G | CA516356479 | WAS | n.510C>G c.1266C>G (p.Ala422=) c.1110C>G (p.Ala370=) | gnomAD v4 |
| X | g.48688994C>T | CA10404061 | WAS | n.510C>T c.1266C>T (p.Ala422=) c.1110C>T (p.Ala370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688995G>A | CA10404063 | WAS | n.511G>A c.1267G>A (p.Gly423Arg) c.1111G>A (p.Gly371Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688995G>C | CA10404062 | WAS | n.511G>C c.1267G>C (p.Gly423Arg) c.1111G>C (p.Gly371Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688995G= | CA2428355784 | WAS | n.511G= c.1267G= (p.Gly423=) c.1111G= (p.Gly371=) | |
| X | g.48688995G>T | CA412873614 | WAS | n.511G>T c.1267G>T (p.Gly423Trp) c.1111G>T (p.Gly371Trp) | gnomAD v4 |
| X | g.48688999dup | CA658684302 | WAS | n.515dup c.1271dup (p.Leu425ProfsTer?) c.1115dup (p.Leu373ProfsTer?) | ClinVar dbSNP |
| X | g.48688999del | CA2579600726 | WAS | n.515del c.1271del (p.Gly424AlafsTer21) c.1115del (p.Gly372AlafsTer21) | ClinVar gnomAD v4 |
| X | g.48689000_48689017del | CA2695233799 | WAS | n.516_533del c.1272_1289del (p.Leu425_Gly430del) c.1116_1133del (p.Leu373_Gly378del) | |
| X | g.48688998_48689023del | CA2573158943 | WAS | n.514_539del c.1270_1295del (p.Gly424SerfsTer?) c.1114_1139del (p.Gly372SerfsTer?) | ClinVar dbSNP |
| X | g.48688996G>A | CA412873615 | WAS | n.512G>A c.1268G>A (p.Gly423Glu) c.1112G>A (p.Gly371Glu) | dbSNP gnomAD v4 |
| X | g.48688996G>C | CA412873616 | WAS | n.512G>C c.1268G>C (p.Gly423Ala) c.1112G>C (p.Gly371Ala) | |
| X | g.48688996G= | CA2428355785 | WAS | n.512G= c.1268G= (p.Gly423=) c.1112G= (p.Gly371=) | |
| X | g.48688996G>T | CA412873617 | WAS | n.512G>T c.1268G>T (p.Gly423Val) c.1112G>T (p.Gly371Val) | |
| X | g.48688997G>A | CA516356480 | WAS | n.513G>A c.1269G>A (p.Gly423=) c.1113G>A (p.Gly371=) | gnomAD v4 |
| X | g.48688997G>C | CA516356482 | WAS | n.513G>C c.1269G>C (p.Gly423=) c.1113G>C (p.Gly371=) | |
| X | g.48688997G>T | CA516356481 | WAS | n.513G>T c.1269G>T (p.Gly423=) c.1113G>T (p.Gly371=) | |
| X | g.48688998G>A | CA412873620 | WAS | n.514G>A c.1270G>A (p.Gly424Ser) c.1114G>A (p.Gly372Ser) | gnomAD v4 |
| X | g.48688998G>C | CA412873618 | WAS | n.514G>C c.1270G>C (p.Gly424Arg) c.1114G>C (p.Gly372Arg) | |
| X | g.48688998G>T | CA412873619 | WAS | n.514G>T c.1270G>T (p.Gly424Cys) c.1114G>T (p.Gly372Cys) | |
| X | g.48689001_48689046del | CA2580101069 | WAS | n.517_562del c.1273_1318del (p.Leu425ArgfsTer5) c.1117_1162del (p.Leu373ArgfsTer5) | ClinVar |
| X | g.48688999G>A | CA412873621 | WAS | n.515G>A c.1271G>A (p.Gly424Asp) c.1115G>A (p.Gly372Asp) | |
| X | g.48688999G>C | CA412873622 | WAS | n.515G>C c.1271G>C (p.Gly424Ala) c.1115G>C (p.Gly372Ala) | gnomAD v4 |
| X | g.48688999G>T | CA412873623 | WAS | n.515G>T c.1271G>T (p.Gly424Val) c.1115G>T (p.Gly372Val) | gnomAD v4 |
| X | g.48689000C>A | CA516356483 | WAS | n.516C>A c.1272C>A (p.Gly424=) c.1116C>A (p.Gly372=) | |
| X | g.48689000C= | CA2428355786 | WAS | n.516C= c.1272C= (p.Gly424=) c.1116C= (p.Gly372=) | |
| X | g.48689000C>G | CA516356484 | WAS | n.516C>G c.1272C>G (p.Gly424=) c.1116C>G (p.Gly372=) | |
| X | g.48689000C>T | CA10404064 | WAS | n.516C>T c.1272C>T (p.Gly424=) c.1116C>T (p.Gly372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689000_48689005delinsCCTGGC | CA2428355787 | WAS | n.516_521delinsCCTGGC c.1272_1277delinsCCTGGC (p.Gly424=) c.1116_1121delinsCCTGGC (p.Gly372=) | |
| X | g.48689000_48689005delinsGCCTGG | CA1139667533 | WAS | n.516_521delinsGCCTGG c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) c.1116_1121delinsGCCTGG (p.Leu373_Ala374delinsProGly) | ClinVar dbSNP |
| X | g.48689001C>A | CA412873624 | WAS | n.517C>A c.1273C>A (p.Leu425Met) c.1117C>A (p.Leu373Met) | gnomAD v4 |
| X | g.48689001C>G | CA412873625 | WAS | n.517C>G c.1273C>G (p.Leu425Val) c.1117C>G (p.Leu373Val) | |
| X | g.48689001C>T | CA516356485 | WAS | n.517C>T c.1273C>T (p.Leu425=) c.1117C>T (p.Leu373=) | |
| X | g.48689002T>A | CA412873626 | WAS | n.518T>A c.1274T>A (p.Leu425Gln) c.1118T>A (p.Leu373Gln) | dbSNP gnomAD v2 |
| X | g.48689002T>C | CA412873627 | WAS | n.518T>C c.1274T>C (p.Leu425Pro) c.1118T>C (p.Leu373Pro) | ClinVar gnomAD v4 |
| X | g.48689002T>G | CA412873628 | WAS | n.518T>G c.1274T>G (p.Leu425Arg) c.1118T>G (p.Leu373Arg) | |
| X | g.48689002T= | CA2428355788 | WAS | n.518T= c.1274T= (p.Leu425=) c.1118T= (p.Leu373=) | |
| X | g.48689005_48689014del | CA2695233800 | WAS | n.521_530del c.1277_1286del (p.Ala426GlyfsTer16) c.1121_1130del (p.Ala374GlyfsTer16) | |
| X | g.48689003G>A | CA516356486 | WAS | n.519G>A c.1275G>A (p.Leu425=) c.1119G>A (p.Leu373=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689003G>C | CA516356487 | WAS | n.519G>C c.1275G>C (p.Leu425=) c.1119G>C (p.Leu373=) | |
| X | g.48689003G= | CA2428355789 | WAS | n.519G= c.1275G= (p.Leu425=) c.1119G= (p.Leu373=) | |
| X | g.48689003G>T | CA516356488 | WAS | n.519G>T c.1275G>T (p.Leu425=) c.1119G>T (p.Leu373=) | |
| X | g.48689004G>A | CA412873629 | WAS | n.520G>A c.1276G>A (p.Ala426Thr) c.1120G>A (p.Ala374Thr) | |
| X | g.48689004G>C | CA412873630 | WAS | n.520G>C c.1276G>C (p.Ala426Pro) c.1120G>C (p.Ala374Pro) | |
| X | g.48689004G= | CA2428355790 | WAS | n.520G= c.1276G= (p.Ala426=) c.1120G= (p.Ala374=) | |
| X | g.48689004G>T | CA10404065 | WAS | n.520G>T c.1276G>T (p.Ala426Ser) c.1120G>T (p.Ala374Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689005C>A | CA412873631 | WAS | n.521C>A c.1277C>A (p.Ala426Asp) c.1121C>A (p.Ala374Asp) | gnomAD v4 |
| X | g.48689005C>G | CA412873633 | WAS | n.521C>G c.1277C>G (p.Ala426Gly) c.1121C>G (p.Ala374Gly) | |
| X | g.48689005C>T | CA412873632 | WAS | n.521C>T c.1277C>T (p.Ala426Val) c.1121C>T (p.Ala374Val) | gnomAD v4 |
| X | g.48689006C>A | CA516356491 | WAS | n.522C>A c.1278C>A (p.Ala426=) c.1122C>A (p.Ala374=) | |
| X | g.48689006C>G | CA516356489 | WAS | n.522C>G c.1278C>G (p.Ala426=) c.1122C>G (p.Ala374=) | |
| X | g.48689006C>T | CA516356490 | WAS | n.522C>T c.1278C>T (p.Ala426=) c.1122C>T (p.Ala374=) | |
| X | g.48689007C>A | CA412873634 | WAS | n.523C>A c.1279C>A (p.Pro427Thr) c.1123C>A (p.Pro375Thr) | |
| X | g.48689007C>G | CA412873635 | WAS | n.523C>G c.1279C>G (p.Pro427Ala) c.1123C>G (p.Pro375Ala) | |
| X | g.48689007C>T | CA412873636 | WAS | n.523C>T c.1279C>T (p.Pro427Ser) c.1123C>T (p.Pro375Ser) | |
| X | g.48689008C>A | CA412873637 | WAS | n.524C>A c.1280C>A (p.Pro427His) c.1124C>A (p.Pro375His) | |
| X | g.48689008C= | CA2428355791 | WAS | n.524C= c.1280C= (p.Pro427=) c.1124C= (p.Pro375=) | |
| X | g.48689008C>G | CA412873638 | WAS | n.524C>G c.1280C>G (p.Pro427Arg) c.1124C>G (p.Pro375Arg) | |
| X | g.48689008C>T | CA10404066 | WAS | n.524C>T c.1280C>T (p.Pro427Leu) c.1124C>T (p.Pro375Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689009T>A | CA516356492 | WAS | n.525T>A c.1281T>A (p.Pro427=) c.1125T>A (p.Pro375=) | |
| X | g.48689009T>C | CA516356493 | WAS | n.525T>C c.1281T>C (p.Pro427=) c.1125T>C (p.Pro375=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689009T>G | CA516356494 | WAS | n.525T>G c.1281T>G (p.Pro427=) c.1125T>G (p.Pro375=) | |
| X | g.48689009T= | CA2428355792 | WAS | n.525T= c.1281T= (p.Pro427=) c.1125T= (p.Pro375=) | |
| X | g.48689010G>A | CA412873641 | WAS | n.526G>A c.1282G>A (p.Gly428Ser) c.1126G>A (p.Gly376Ser) | |
| X | g.48689010G>C | CA412873640 | WAS | n.526G>C c.1282G>C (p.Gly428Arg) c.1126G>C (p.Gly376Arg) | |
| X | g.48689010G>T | CA412873639 | WAS | n.526G>T c.1282G>T (p.Gly428Cys) c.1126G>T (p.Gly376Cys) | |
| X | g.48689011G>A | CA412873642 | WAS | n.527G>A c.1283G>A (p.Gly428Asp) c.1127G>A (p.Gly376Asp) | |
| X | g.48689011G>C | CA412873643 | WAS | n.527G>C c.1283G>C (p.Gly428Ala) c.1127G>C (p.Gly376Ala) | gnomAD v4 |
| X | g.48689011G>T | CA412873644 | WAS | n.527G>T c.1283G>T (p.Gly428Val) c.1127G>T (p.Gly376Val) | gnomAD v4 |
| X | g.48689012T>A | CA516356497 | WAS | n.528T>A c.1284T>A (p.Gly428=) c.1128T>A (p.Gly376=) | |
| X | g.48689012T>C | CA516356495 | WAS | n.528T>C c.1284T>C (p.Gly428=) c.1128T>C (p.Gly376=) | |
| X | g.48689012T>G | CA516356496 | WAS | n.528T>G c.1284T>G (p.Gly428=) c.1128T>G (p.Gly376=) | gnomAD v3 gnomAD v4 |
| X | g.48689013G>A | CA412873645 | WAS | n.529G>A c.1285G>A (p.Gly429Arg) c.1129G>A (p.Gly377Arg) | |
| X | g.48689013G>C | CA10404067 | WAS | n.529G>C c.1285G>C (p.Gly429Arg) c.1129G>C (p.Gly377Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689013G= | CA2428355793 | WAS | n.529G= c.1285G= (p.Gly429=) c.1129G= (p.Gly377=) | |
| X | g.48689013G>T | CA412873646 | WAS | n.529G>T c.1285G>T (p.Gly429Trp) c.1129G>T (p.Gly377Trp) | gnomAD v4 |
| X | g.48689017dup | CA2695233803 | WAS | n.533dup c.1289dup (p.Arg431SerfsTer?) c.1133dup (p.Arg379SerfsTer?) | |
| X | g.48689014_48689017dup | CA2695233802 | WAS | n.530_533dup c.1286_1289dup (p.Arg431GlyfsTer?) c.1130_1133dup (p.Arg379GlyfsTer?) | |
| X | g.48689017del | CA2695233804 | WAS | n.533del c.1289del (p.Gly430ValfsTer15) c.1133del (p.Gly378ValfsTer15) | |
| X | g.48689016_48689023del | CA2695233801 | WAS | n.532_539del c.1288_1295del (p.Gly430SerfsTer?) c.1132_1139del (p.Gly378SerfsTer?) | |
| X | g.48689014G>A | CA412873647 | WAS | n.530G>A c.1286G>A (p.Gly429Glu) c.1130G>A (p.Gly377Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689014G>C | CA412873649 | WAS | n.530G>C c.1286G>C (p.Gly429Ala) c.1130G>C (p.Gly377Ala) | |
| X | g.48689014G= | CA2428355794 | WAS | n.530G= c.1286G= (p.Gly429=) c.1130G= (p.Gly377=) | |
| X | g.48689014G>T | CA412873648 | WAS | n.530G>T c.1286G>T (p.Gly429Val) c.1130G>T (p.Gly377Val) | gnomAD v4 |
| X | g.48689015G>A | CA516356498 | WAS | n.531G>A c.1287G>A (p.Gly429=) c.1131G>A (p.Gly377=) | |
| X | g.48689015G>C | CA516356499 | WAS | n.531G>C c.1287G>C (p.Gly429=) c.1131G>C (p.Gly377=) | |
| X | g.48689015G>T | CA516356500 | WAS | n.531G>T c.1287G>T (p.Gly429=) c.1131G>T (p.Gly377=) | |
| X | g.48689016G>A | CA412873650 | WAS | n.532G>A c.1288G>A (p.Gly430Ser) c.1132G>A (p.Gly378Ser) | |
| X | g.48689016G>C | CA412873651 | WAS | n.532G>C c.1288G>C (p.Gly430Arg) c.1132G>C (p.Gly378Arg) | |
| X | g.48689016G>T | CA412873652 | WAS | n.532G>T c.1288G>T (p.Gly430Cys) c.1132G>T (p.Gly378Cys) | |
| X | g.48689017G>A | CA412873653 | WAS | n.533G>A c.1289G>A (p.Gly430Asp) c.1133G>A (p.Gly378Asp) | gnomAD v4 |
| X | g.48689017G>C | CA412873654 | WAS | n.533G>C c.1289G>C (p.Gly430Ala) c.1133G>C (p.Gly378Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689017G= | CA2428355795 | WAS | n.533G= c.1289G= (p.Gly430=) c.1133G= (p.Gly378=) | |
| X | g.48689017G>T | CA412873655 | WAS | n.533G>T c.1289G>T (p.Gly430Val) c.1133G>T (p.Gly378Val) | ClinVar dbSNP gnomAD v4 |
| X | g.48689018T>A | CA516356501 | WAS | n.534T>A c.1290T>A (p.Gly430=) c.1134T>A (p.Gly378=) | |
| X | g.48689018T>C | CA516356502 | WAS | n.534T>C c.1290T>C (p.Gly430=) c.1134T>C (p.Gly378=) | |
| X | g.48689018T>G | CA516356503 | WAS | n.534T>G c.1290T>G (p.Gly430=) c.1134T>G (p.Gly378=) | |
| X | g.48689019C>A | CA516356504 | WAS | n.535C>A c.1291C>A (p.Arg431=) c.1135C>A (p.Arg379=) | COSMIC |
| X | g.48689019C= | CA2428355796 | WAS | n.535C= c.1291C= (p.Arg431=) c.1135C= (p.Arg379=) | |
| X | g.48689019C>G | CA412873656 | WAS | n.535C>G c.1291C>G (p.Arg431Gly) c.1135C>G (p.Arg379Gly) | |
| X | g.48689019C>T | CA412873657 | WAS | n.535C>T c.1291C>T (p.Arg431Trp) c.1135C>T (p.Arg379Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689020G>A | CA412873658 | WAS | n.536G>A c.1292G>A (p.Arg431Gln) n.1G>A c.1136G>A (p.Arg379Gln) | dbSNP gnomAD v4 |
| X | g.48689020G>C | CA412873659 | WAS | n.536G>C c.1292G>C (p.Arg431Pro) n.1G>C c.1136G>C (p.Arg379Pro) | |
| X | g.48689020G= | CA2428355797 | WAS | n.536G= c.1292G= (p.Arg431=) n.1G= c.1136G= (p.Arg379=) | |
| X | g.48689020G>T | CA412873660 | WAS | n.536G>T c.1292G>T (p.Arg431Leu) n.1G>T c.1136G>T (p.Arg379Leu) | gnomAD v4 |
| X | g.48689023dup | CA2573055338 | WAS | n.539dup c.1295dup (p.Ala433SerfsTer?) n.4dup c.1139dup (p.Ala381SerfsTer?) | ClinVar dbSNP |
| X | g.48689023del | CA2695233805 | WAS | n.539del c.1295del (p.Gly432GlufsTer13) n.4del c.1139del (p.Gly380GlufsTer13) | |
| X | g.48689021G>A | CA10404068 | WAS | n.537G>A c.1293G>A (p.Arg431=) n.2G>A c.1137G>A (p.Arg379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689021G>C | CA516356505 | WAS | n.537G>C c.1293G>C (p.Arg431=) n.2G>C c.1137G>C (p.Arg379=) | gnomAD v4 |
| X | g.48689021G= | CA2428355798 | WAS | n.537G= c.1293G= (p.Arg431=) n.2G= c.1137G= (p.Arg379=) | |
| X | g.48689021G>T | CA516356506 | WAS | n.537G>T c.1293G>T (p.Arg431=) n.2G>T c.1137G>T (p.Arg379=) | |
| X | g.48689022G>A | CA412873661 | WAS | n.538G>A c.1294G>A (p.Gly432Arg) n.3G>A c.1138G>A (p.Gly380Arg) | |
| X | g.48689022G>C | CA412873663 | WAS | n.538G>C c.1294G>C (p.Gly432Arg) n.3G>C c.1138G>C (p.Gly380Arg) | |
| X | g.48689022G>T | CA412873662 | WAS | n.538G>T c.1294G>T (p.Gly432Ter) n.3G>T c.1138G>T (p.Gly380Ter) | gnomAD v4 |
| X | g.48689023G>A | CA412873664 | WAS | n.539G>A c.1295G>A (p.Gly432Glu) n.4G>A c.1139G>A (p.Gly380Glu) | gnomAD v4 |
| X | g.48689023G>C | CA412873665 | WAS | n.539G>C c.1295G>C (p.Gly432Ala) n.4G>C c.1139G>C (p.Gly380Ala) | |
| X | g.48689023G>T | CA412873666 | WAS | n.539G>T c.1295G>T (p.Gly432Val) n.4G>T c.1139G>T (p.Gly380Val) | gnomAD v4 |
| X | g.48689024A>C | CA516356507 | WAS | n.540A>C c.1296A>C (p.Gly432=) n.5A>C c.1140A>C (p.Gly380=) | |
| X | g.48689024A>G | CA516356508 | WAS | n.540A>G c.1296A>G (p.Gly432=) n.5A>G c.1140A>G (p.Gly380=) | |
| X | g.48689024A>T | CA516356509 | WAS | n.540A>T c.1296A>T (p.Gly432=) n.5A>T c.1140A>T (p.Gly380=) | |
| X | g.48689025G>A | CA412873667 | WAS | n.541G>A c.1297G>A (p.Ala433Thr) n.6G>A c.1141G>A (p.Ala381Thr) | |
| X | g.48689025G>C | CA412873668 | WAS | n.541G>C c.1297G>C (p.Ala433Pro) n.6G>C c.1141G>C (p.Ala381Pro) | |
| X | g.48689025G>T | CA412873669 | WAS | n.541G>T c.1297G>T (p.Ala433Ser) n.6G>T c.1141G>T (p.Ala381Ser) | |
| X | g.48689025dup | CA2695233806 | WAS | n.541dup c.1297dup (p.Ala433GlyfsTer?) n.6dup c.1141dup (p.Ala381GlyfsTer?) | |
| X | g.48689026C>A | CA412873670 | WAS | n.542C>A c.1298C>A (p.Ala433Glu) n.7C>A c.1142C>A (p.Ala381Glu) | gnomAD v4 |
| X | g.48689026C= | CA2428355799 | WAS | n.542C= c.1298C= (p.Ala433=) n.7C= c.1142C= (p.Ala381=) | |
| X | g.48689026C>G | CA412873671 | WAS | n.542C>G c.1298C>G (p.Ala433Gly) n.7C>G c.1142C>G (p.Ala381Gly) | |
| X | g.48689026C>T | CA10404069 | WAS | n.542C>T c.1298C>T (p.Ala433Val) n.7C>T c.1142C>T (p.Ala381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |