| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688838_48688918del | CA2693644735 | WAS | n.354_434del c.1110_1190del (p.Pro371_Pro397del) c.954_1034del (p.Pro319_Pro345del) | gnomAD v4 |
| 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.48688907_48688912dup | CA2693644933 | WAS | n.423_428dup c.1179_1184dup (p.Pro395_Pro396insProPro) c.1023_1028dup (p.Pro343_Pro344insProPro) | gnomAD v4 |
| X | g.48688907_48688915dup | CA2740092136 | WAS | n.423_431dup c.1179_1187dup (p.Pro396_Pro397insProProPro) c.1023_1031dup (p.Pro344_Pro345insProProPro) | ClinVar |
| X | g.48688907_48688916delinsGCCACCACCA | CA2428355739 | WAS | n.423_432delinsGCCACCACCA c.1179_1188delinsGCCACCACCA (p.Met393=) c.1023_1032delinsGCCACCACCA (p.Met341=) | |
| 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.48688910_48688918dup | CA2428355744 | WAS | n.426_434dup c.1182_1190dup (p.Pro397_Pro398insProProPro) c.1026_1034dup (p.Pro345_Pro346insProProPro) | dbSNP gnomAD v4 |
| X | g.48688916_48688918del | CA641901768 | WAS | n.432_434del c.1188_1190del (p.Pro397del) c.1032_1034del (p.Pro345del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688910_48688918del | CA2428355743 | WAS | n.426_434del c.1182_1190del (p.Pro395_Pro397del) c.1026_1034del (p.Pro343_Pro345del) | dbSNP gnomAD v4 |
| X | g.48688913_48688927del | CA516356337 | WAS | n.429_443del c.1185_1199del (p.Pro396_Pro400del) c.1029_1043del (p.Pro344_Pro348del) | |
| X | g.48688910_48688919delinsACCACCACCG | CA2428355746 | WAS | n.426_435delinsACCACCACCG c.1182_1191delinsACCACCACCG (p.Pro394=) c.1026_1035delinsACCACCACCG (p.Pro342=) | |
| X | g.48688911C>A | CA412873452 | WAS | n.427C>A c.1183C>A (p.Pro395Thr) c.1027C>A (p.Pro343Thr) | |
| X | g.48688911C= | CA2428355748 | WAS | n.427C= c.1183C= (p.Pro395=) c.1027C= (p.Pro343=) | |
| X | g.48688911C>G | CA412873453 | WAS | n.427C>G c.1183C>G (p.Pro395Ala) c.1027C>G (p.Pro343Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688911C>T | CA412873454 | WAS | n.427C>T c.1183C>T (p.Pro395Ser) c.1027C>T (p.Pro343Ser) | gnomAD v4 |
| X | g.48688911_48688918dup | CA16043275 | WAS | n.427_434dup c.1183_1190dup (p.Pro398HisfsTer?) c.1027_1034dup (p.Pro346HisfsTer?) | ClinVar dbSNP |
| 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.48688912C>A | CA412873455 | WAS | n.428C>A c.1184C>A (p.Pro395Gln) c.1028C>A (p.Pro343Gln) | gnomAD v4 |
| X | g.48688912C>G | CA412873456 | WAS | n.428C>G c.1184C>G (p.Pro395Arg) c.1028C>G (p.Pro343Arg) | |
| X | g.48688912C>T | CA412873457 | WAS | n.428C>T c.1184C>T (p.Pro395Leu) c.1028C>T (p.Pro343Leu) | gnomAD v4 |
| X | g.48688913del | CA2738505179 | WAS | n.429del c.1185del (p.Pro396HisfsTer?) c.1029del (p.Pro344HisfsTer?) | dbSNP |
| X | g.48688913A>C | CA516356351 | WAS | n.429A>C c.1185A>C (p.Pro395=) c.1029A>C (p.Pro343=) | dbSNP |
| X | g.48688913A>G | CA516356352 | WAS | n.429A>G c.1185A>G (p.Pro395=) c.1029A>G (p.Pro343=) | |
| X | g.48688913A>T | CA516356353 | WAS | n.429A>T c.1185A>T (p.Pro395=) c.1029A>T (p.Pro343=) | gnomAD v4 |
| X | g.48688914C>A | CA412873460 | WAS | n.430C>A c.1186C>A (p.Pro396Thr) c.1030C>A (p.Pro344Thr) | gnomAD v4 |
| X | g.48688914C>G | CA412873458 | WAS | n.430C>G c.1186C>G (p.Pro396Ala) c.1030C>G (p.Pro344Ala) | |
| X | g.48688914C>T | CA412873459 | WAS | n.430C>T c.1186C>T (p.Pro396Ser) c.1030C>T (p.Pro344Ser) | 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.48688915C>A | CA412873461 | WAS | n.431C>A c.1187C>A (p.Pro396Gln) c.1031C>A (p.Pro344Gln) | ClinVar gnomAD v4 |
| X | g.48688915C= | CA2428355749 | WAS | n.431C= c.1187C= (p.Pro396=) c.1031C= (p.Pro344=) | |
| X | g.48688915C>G | CA412873462 | WAS | n.431C>G c.1187C>G (p.Pro396Arg) c.1031C>G (p.Pro344Arg) | |
| X | g.48688915C>T | CA412873463 | WAS | n.431C>T c.1187C>T (p.Pro396Leu) c.1031C>T (p.Pro344Leu) | dbSNP gnomAD v2 |
| X | g.48688916A= | CA2428355750 | WAS | n.432A= c.1188A= (p.Pro396=) c.1032A= (p.Pro344=) | |
| X | g.48688916A>C | CA516356357 | WAS | n.432A>C c.1188A>C (p.Pro396=) c.1032A>C (p.Pro344=) | ClinVar dbSNP |
| X | g.48688916A>G | CA516356358 | WAS | n.432A>G c.1188A>G (p.Pro396=) c.1032A>G (p.Pro344=) | gnomAD v4 |
| X | g.48688916A>T | CA516356359 | WAS | n.432A>T c.1188A>T (p.Pro396=) c.1032A>T (p.Pro344=) | |
| X | g.48688917C>A | CA412873464 | WAS | n.433C>A c.1189C>A (p.Pro397Thr) c.1033C>A (p.Pro345Thr) | gnomAD v4 |
| X | g.48688917C>G | CA412873466 | WAS | n.433C>G c.1189C>G (p.Pro397Ala) c.1033C>G (p.Pro345Ala) | |
| X | g.48688917C>T | CA412873465 | WAS | n.433C>T c.1189C>T (p.Pro397Ser) c.1033C>T (p.Pro345Ser) | gnomAD v4 |
| X | g.48688918del | CA2695233785 | WAS | n.434del c.1190del (p.Pro397ArgfsTer?) c.1034del (p.Pro345ArgfsTer?) | |
| X | g.48688918C>A | CA412873467 | WAS | n.434C>A c.1190C>A (p.Pro397Gln) c.1034C>A (p.Pro345Gln) | gnomAD v4 |
| X | g.48688918C= | CA2428355751 | WAS | n.434C= c.1190C= (p.Pro397=) c.1034C= (p.Pro345=) | |
| X | g.48688918C>G | CA412873468 | WAS | n.434C>G c.1190C>G (p.Pro397Arg) c.1034C>G (p.Pro345Arg) | |
| X | g.48688918C>T | CA412873469 | WAS | n.434C>T c.1190C>T (p.Pro397Leu) c.1034C>T (p.Pro345Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688919G>A | CA10404046 | WAS | n.435G>A c.1191G>A (p.Pro397=) c.1035G>A (p.Pro345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688919G>C | CA516356363 | WAS | n.435G>C c.1191G>C (p.Pro397=) c.1035G>C (p.Pro345=) | ClinVar dbSNP gnomAD v4 |
| X | g.48688919G= | CA2428355752 | WAS | n.435G= c.1191G= (p.Pro397=) c.1035G= (p.Pro345=) | |
| X | g.48688919G>T | CA516356364 | WAS | n.435G>T c.1191G>T (p.Pro397=) c.1035G>T (p.Pro345=) | gnomAD v4 |