| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688788_48688814del | CA2693644613 | WAS | n.304_330del c.1060_1086del (p.Pro354_Pro362del) c.932-28_932-2del (n.932-28_932-2del) | gnomAD v4 |
| X | g.48688809_48688814del | CA2693644654 | WAS | n.325_330del c.1081_1086del (p.Pro361_Pro362del) c.932-7_932-2del (n.932-7_932-2del) | gnomAD v4 |
| X | g.48688813del | CA2573158942 | WAS | n.329del c.1085del (p.Pro362GlnfsTer?) c.932-3del (n.932-3del) | ClinVar dbSNP gnomAD v4 |
| X | g.48688810_48688814del | CA2693644684 | WAS | n.326_330del c.1082_1086del (p.Pro361ArgfsTer?) c.932-6_932-2del (n.932-6_932-2del) | gnomAD v4 |
| X | g.48688811C>A | CA516356392 | WAS | n.327C>A c.1083C>A (p.Pro361=) c.932-5C>A (n.932-5C>A) | gnomAD v4 |
| X | g.48688811C>G | CA516356393 | WAS | n.327C>G c.1083C>G (p.Pro361=) c.932-5C>G (n.932-5C>G) | |
| X | g.48688811C>T | CA516356394 | WAS | n.327C>T c.1083C>T (p.Pro361=) c.932-5C>T (n.932-5C>T) | |
| X | g.48688812C>A | CA412873244 | WAS | n.328C>A c.1084C>A (p.Pro362Thr) c.932-4C>A (n.932-4C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.48688812C>G | CA412873245 | WAS | n.328C>G c.1084C>G (p.Pro362Ala) c.932-4C>G (n.932-4C>G) | |
| X | g.48688812C>T | CA412873246 | WAS | n.328C>T c.1084C>T (p.Pro362Ser) c.932-4C>T (n.932-4C>T) | |
| X | g.48688813C>A | CA412873250 | WAS | n.329C>A c.1085C>A (p.Pro362Gln) c.932-3C>A (n.932-3C>A) | gnomAD v4 |
| X | g.48688813C>G | CA412873255 | WAS | n.329C>G c.1085C>G (p.Pro362Arg) c.932-3C>G (n.932-3C>G) | |
| X | g.48688813C>T | CA412873257 | WAS | n.329C>T c.1085C>T (p.Pro362Leu) c.932-3C>T (n.932-3C>T) | |
| X | g.48688814del | CA2695233773 | WAS | n.330del c.1086del (p.Gly363AlafsTer?) c.932-2del (n.932-2del) | |
| X | g.48688814A= | CA2428355689 | WAS | n.330A= c.1086A= (p.Pro362=) c.932-2A= (n.932-2A=) | |
| X | g.48688814A>C | CA516356397 | WAS | n.330A>C c.1086A>C (p.Pro362=) c.932-2A>C (n.932-2A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688814A>G | CA516356398 | WAS | n.330A>G c.1086A>G (p.Pro362=) c.932-2A>G (n.932-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688814A>T | CA516356399 | WAS | n.330A>T c.1086A>T (p.Pro362=) c.932-2A>T (n.932-2A>T) | |
| X | g.48688814_48688816del | CA2693644698 | WAS | n.330_332del c.1086_1088del (p.Gly363del) c.932-2_932del | gnomAD v4 |
| X | g.48688815G>A | CA412873262 | WAS | n.331G>A c.1087G>A (p.Gly363Ser) c.932-1G>A (n.932-1G>A) | gnomAD v4 |
| X | g.48688815G>C | CA412873259 | WAS | n.331G>C c.1087G>C (p.Gly363Arg) c.932-1G>C (n.932-1G>C) | gnomAD v3 gnomAD v4 |
| X | g.48688815G>T | CA412873261 | WAS | n.331G>T c.1087G>T (p.Gly363Cys) c.932-1G>T (n.932-1G>T) | |
| X | g.48688816G>A | CA412873263 | WAS | n.332G>A c.1088G>A (p.Gly363Asp) c.932G>A (p.Gly311Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688816G>C | CA412873264 | WAS | n.332G>C c.1088G>C (p.Gly363Ala) c.932G>C (p.Gly311Ala) | |
| X | g.48688816G= | CA2428355690 | WAS | n.332G= c.1088G= (p.Gly363=) c.932G= (p.Gly311=) | |
| X | g.48688816G>T | CA412873265 | WAS | n.332G>T c.1088G>T (p.Gly363Val) c.932G>T (p.Gly311Val) | |
| X | g.48688817C>A | CA516356403 | WAS | n.333C>A c.1089C>A (p.Gly363=) c.933C>A (p.Gly311=) | gnomAD v4 |
| X | g.48688817C>G | CA516356404 | WAS | n.333C>G c.1089C>G (p.Gly363=) c.933C>G (p.Gly311=) | |
| X | g.48688817C>T | CA516356405 | WAS | n.333C>T c.1089C>T (p.Gly363=) c.933C>T (p.Gly311=) | gnomAD v4 |
| X | g.48688818C>A | CA516356406 | WAS | n.334C>A c.1090C>A (p.Arg364=) c.934C>A (p.Arg312=) | gnomAD v4 |
| X | g.48688818C= | CA2428355691 | WAS | n.334C= c.1090C= (p.Arg364=) c.934C= (p.Arg312=) | |
| X | g.48688818C>G | CA412873266 | WAS | n.334C>G c.1090C>G (p.Arg364Gly) c.934C>G (p.Arg312Gly) | |
| X | g.48688818C>T | CA412873267 | WAS | n.334C>T c.1090C>T (p.Arg364Ter) c.934C>T (p.Arg312Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.48688818_48688819insTGGGG | CA2693644711 | WAS | n.334_335insTGGGG c.1090_1091insTGGGG (p.Arg364LeufsTer?) c.934_935insTGGGG (p.Arg312LeufsTer?) | gnomAD v4 |
| X | g.48688819G>A | CA412873268 | WAS | n.335G>A c.1091G>A (p.Arg364Gln) c.935G>A (p.Arg312Gln) | dbSNP gnomAD v4 |
| X | g.48688819G>C | CA412873269 | WAS | n.335G>C c.1091G>C (p.Arg364Pro) c.935G>C (p.Arg312Pro) | gnomAD v3 gnomAD v4 |
| X | g.48688819G= | CA2428355692 | WAS | n.335G= c.1091G= (p.Arg364=) c.935G= (p.Arg312=) | |
| X | g.48688819G>T | CA412873270 | WAS | n.335G>T c.1091G>T (p.Arg364Leu) c.935G>T (p.Arg312Leu) | gnomAD v4 |
| X | g.48688819_48688825del | CA2693644713 | WAS | n.335_341del c.1091_1097del (p.Arg364ProfsTer?) c.935_941del (p.Arg312ProfsTer?) | gnomAD v4 |
| X | g.48688820del | CA2695233774 | WAS | n.336del c.1092del (p.Gly366AlafsTer?) c.936del (p.Gly314AlafsTer?) | |
| X | g.48688820A>C | CA516356408 | WAS | n.336A>C c.1092A>C (p.Arg364=) c.936A>C (p.Arg312=) | ClinVar gnomAD v4 |
| X | g.48688820A>G | CA516356410 | WAS | n.336A>G c.1092A>G (p.Arg364=) c.936A>G (p.Arg312=) | gnomAD v4 |
| X | g.48688820A>T | CA516356409 | WAS | n.336A>T c.1092A>T (p.Arg364=) c.936A>T (p.Arg312=) | gnomAD v4 |
| X | g.48688820_48688821delinsAG | CA2428355693 | WAS | n.336_337delinsAG c.1092_1093delinsAG (p.Arg364=) c.936_937delinsAG (p.Arg312=) | |
| X | g.48688821G>A | CA412873271 | WAS | n.337G>A c.1093G>A (p.Gly365Arg) c.937G>A (p.Gly313Arg) | |
| X | g.48688821G>C | CA412873272 | WAS | n.337G>C c.1093G>C (p.Gly365Arg) c.937G>C (p.Gly313Arg) | |
| X | g.48688821G>T | CA412873273 | WAS | n.337G>T c.1093G>T (p.Gly365Trp) c.937G>T (p.Gly313Trp) | |
| X | g.48688825dup | CA2693644719 | WAS | n.341dup c.1097dup (p.Pro368SerfsTer?) c.941dup (p.Pro316SerfsTer?) | gnomAD v4 |
| X | g.48688825del | CA341014 | WAS | n.341del c.1097del (p.Gly366AlafsTer?) c.941del (p.Gly314AlafsTer?) | ClinVar dbSNP |
| X | g.48688822G>A | CA412873278 | WAS | n.338G>A c.1094G>A (p.Gly365Glu) c.938G>A (p.Gly313Glu) | gnomAD v4 |