| 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.48688801dup | CA2695233769 | WAS | n.317dup c.1073dup (p.Pro359ThrfsTer?) c.932-15dup (n.932-15dup) | ClinVar |
| X | g.48688800G>A | CA412873204 | WAS | n.316G>A c.1072G>A (p.Gly358Arg) c.932-16G>A (n.932-16G>A) | |
| X | g.48688800G>C | CA412873202 | WAS | n.316G>C c.1072G>C (p.Gly358Arg) c.932-16G>C (n.932-16G>C) | |
| X | g.48688800G>T | CA412873200 | WAS | n.316G>T c.1072G>T (p.Gly358Ter) c.932-16G>T (n.932-16G>T) | |
| X | g.48688801G>A | CA329102214 | WAS | n.317G>A c.1073G>A (p.Gly358Glu) c.932-15G>A (n.932-15G>A) | ClinVar dbSNP |
| X | g.48688801G>C | CA412873207 | WAS | n.317G>C c.1073G>C (p.Gly358Ala) c.932-15G>C (n.932-15G>C) | gnomAD v4 |
| X | g.48688801G= | CA2428355682 | WAS | n.317G= c.1073G= (p.Gly358=) c.932-15G= (n.932-15G=) | |
| X | g.48688801G>T | CA412873209 | WAS | n.317G>T c.1073G>T (p.Gly358Val) c.932-15G>T (n.932-15G>T) | COSMIC |
| X | g.48688801_48688802del | CA2695233770 | WAS | n.317_318del c.1073_1074del (p.Gly358AlafsTer?) c.932-15_932-14del (n.932-15_932-14del) | |
| X | g.48688802A= | CA2428355683 | WAS | n.318A= c.1074A= (p.Gly358=) c.932-14A= (n.932-14A=) | |
| X | g.48688802A>C | CA516356379 | WAS | n.318A>C c.1074A>C (p.Gly358=) c.932-14A>C (n.932-14A>C) | ClinVar gnomAD v3 gnomAD v4 |
| X | g.48688802A>G | CA516356378 | WAS | n.318A>G c.1074A>G (p.Gly358=) c.932-14A>G (n.932-14A>G) | dbSNP gnomAD v4 |
| X | g.48688802A>T | CA516356377 | WAS | n.318A>T c.1074A>T (p.Gly358=) c.932-14A>T (n.932-14A>T) | |
| X | g.48688802dup | CA2695233771 | WAS | n.318dup c.1074dup (p.Pro359ThrfsTer?) c.932-14dup (n.932-14dup) | |
| 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.48688803C>A | CA412873212 | WAS | n.319C>A c.1075C>A (p.Pro359Thr) c.932-13C>A (n.932-13C>A) | dbSNP |
| X | g.48688803C= | CA2428355684 | WAS | n.319C= c.1075C= (p.Pro359=) c.932-13C= (n.932-13C=) | |
| X | g.48688803C>G | CA412873213 | WAS | n.319C>G c.1075C>G (p.Pro359Ala) c.932-13C>G (n.932-13C>G) | |
| X | g.48688803C>T | CA412873215 | WAS | n.319C>T c.1075C>T (p.Pro359Ser) c.932-13C>T (n.932-13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688803_48688804delinsA | CA2695233772 | WAS | n.319_320delinsA c.1075_1076delinsA (p.Pro359ThrfsTer?) c.932-13_932-12delinsA (n.932-13_932-12delinsA) | |
| X | g.48688807dup | CA2582342903 | WAS | n.323dup c.1079dup (p.Pro361ThrfsTer?) c.932-9dup (n.932-9dup) | ClinVar |
| X | g.48688807del | CA2579600721 | WAS | n.323del c.1079del (p.Pro360HisfsTer?) c.932-9del (n.932-9del) | gnomAD v4 |
| X | g.48688804C>A | CA412873217 | WAS | n.320C>A c.1076C>A (p.Pro359His) c.932-12C>A (n.932-12C>A) | gnomAD v4 |
| X | g.48688804C>G | CA412873219 | WAS | n.320C>G c.1076C>G (p.Pro359Arg) c.932-12C>G (n.932-12C>G) | |
| X | g.48688804C>T | CA412873221 | WAS | n.320C>T c.1076C>T (p.Pro359Leu) c.932-12C>T (n.932-12C>T) | gnomAD v4 |
| X | g.48688805C>A | CA516356382 | WAS | n.321C>A c.1077C>A (p.Pro359=) c.932-11C>A (n.932-11C>A) | gnomAD v4 |
| X | g.48688805C= | CA2428355685 | WAS | n.321C= c.1077C= (p.Pro359=) c.932-11C= (n.932-11C=) | |
| X | g.48688805C>G | CA516356383 | WAS | n.321C>G c.1077C>G (p.Pro359=) c.932-11C>G (n.932-11C>G) | |
| X | g.48688805C>T | CA10404034 | WAS | n.321C>T c.1077C>T (p.Pro359=) c.932-11C>T (n.932-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688806C>A | CA412873224 | WAS | n.322C>A c.1078C>A (p.Pro360Thr) c.932-10C>A (n.932-10C>A) | gnomAD v4 |
| X | g.48688806C>G | CA412873226 | WAS | n.322C>G c.1078C>G (p.Pro360Ala) c.932-10C>G (n.932-10C>G) | |
| X | g.48688806C>T | CA412873228 | WAS | n.322C>T c.1078C>T (p.Pro360Ser) c.932-10C>T (n.932-10C>T) | gnomAD v4 |
| X | g.48688807C>A | CA412873232 | WAS | n.323C>A c.1079C>A (p.Pro360Gln) c.932-9C>A (n.932-9C>A) | dbSNP gnomAD v4 |
| X | g.48688807C= | CA2428355686 | WAS | n.323C= c.1079C= (p.Pro360=) c.932-9C= (n.932-9C=) | |
| X | g.48688807C>G | CA412873234 | WAS | n.323C>G c.1079C>G (p.Pro360Arg) c.932-9C>G (n.932-9C>G) | |
| X | g.48688807C>T | CA412873230 | WAS | n.323C>T c.1079C>T (p.Pro360Leu) c.932-9C>T (n.932-9C>T) | dbSNP gnomAD v2 |
| X | g.48688808del | CA2693644674 | WAS | n.324del c.1080del (p.Pro362GlnfsTer?) c.932-8del (n.932-8del) | gnomAD v4 |
| X | g.48688808A= | CA2428355687 | WAS | n.324A= c.1080A= (p.Pro360=) c.932-8A= (n.932-8A=) | |
| X | g.48688808A>C | CA516356386 | WAS | n.324A>C c.1080A>C (p.Pro360=) c.932-8A>C (n.932-8A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688808A>G | CA516356387 | WAS | n.324A>G c.1080A>G (p.Pro360=) c.932-8A>G (n.932-8A>G) | |
| X | g.48688808A>T | CA516356388 | WAS | n.324A>T c.1080A>T (p.Pro360=) c.932-8A>T (n.932-8A>T) | gnomAD v4 |
| X | g.48688809C>A | CA10404035 | WAS | n.325C>A c.1081C>A (p.Pro361Thr) c.932-7C>A (n.932-7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688809C= | CA2428355688 | WAS | n.325C= c.1081C= (p.Pro361=) c.932-7C= (n.932-7C=) | |
| X | g.48688809C>G | CA412873237 | WAS | n.325C>G c.1081C>G (p.Pro361Ala) c.932-7C>G (n.932-7C>G) | |
| X | g.48688809C>T | CA412873239 | WAS | n.325C>T c.1081C>T (p.Pro361Ser) c.932-7C>T (n.932-7C>T) | 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.48688810C>A | CA412873241 | WAS | n.326C>A c.1082C>A (p.Pro361His) c.932-6C>A (n.932-6C>A) | gnomAD v4 |
| X | g.48688810C>G | CA412873242 | WAS | n.326C>G c.1082C>G (p.Pro361Arg) c.932-6C>G (n.932-6C>G) | |
| X | g.48688810C>T | CA412873243 | WAS | n.326C>T c.1082C>T (p.Pro361Leu) c.932-6C>T (n.932-6C>T) | 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 |
| X | g.48688822G>C | CA412873277 | WAS | n.338G>C c.1094G>C (p.Gly365Ala) c.938G>C (p.Gly313Ala) | |
| X | g.48688822G>T | CA412873276 | WAS | n.338G>T c.1094G>T (p.Gly365Val) c.938G>T (p.Gly313Val) | gnomAD v4 |
| X | g.48688823G>A | CA516356413 | WAS | n.339G>A c.1095G>A (p.Gly365=) c.939G>A (p.Gly313=) | dbSNP gnomAD v4 |
| X | g.48688823G>C | CA516356414 | WAS | n.339G>C c.1095G>C (p.Gly365=) c.939G>C (p.Gly313=) | |
| X | g.48688823G= | CA2428355694 | WAS | n.339G= c.1095G= (p.Gly365=) c.939G= (p.Gly313=) | |
| X | g.48688823G>T | CA516356415 | WAS | n.339G>T c.1095G>T (p.Gly365=) c.939G>T (p.Gly313=) | gnomAD v4 |
| X | g.48688824G>A | CA412873279 | WAS | n.340G>A c.1096G>A (p.Gly366Ser) c.940G>A (p.Gly314Ser) | gnomAD v4 |
| X | g.48688824G>C | CA412873280 | WAS | n.340G>C c.1096G>C (p.Gly366Arg) c.940G>C (p.Gly314Arg) | |
| X | g.48688824G>T | CA412873281 | WAS | n.340G>T c.1096G>T (p.Gly366Cys) c.940G>T (p.Gly314Cys) | |
| X | g.48688825G>A | CA412873282 | WAS | n.341G>A c.1097G>A (p.Gly366Asp) c.941G>A (p.Gly314Asp) | dbSNP gnomAD v4 |
| X | g.48688825G>C | CA412873283 | WAS | n.341G>C c.1097G>C (p.Gly366Ala) c.941G>C (p.Gly314Ala) | gnomAD v4 |
| X | g.48688825G= | CA2428355695 | WAS | n.341G= c.1097G= (p.Gly366=) c.941G= (p.Gly314=) | |
| X | g.48688825G>T | CA412873284 | WAS | n.341G>T c.1097G>T (p.Gly366Val) c.941G>T (p.Gly314Val) | |
| X | g.48688826C>A | CA516356419 | WAS | n.342C>A c.1098C>A (p.Gly366=) c.942C>A (p.Gly314=) | gnomAD v4 |
| X | g.48688826C>G | CA516356420 | WAS | n.342C>G c.1098C>G (p.Gly366=) c.942C>G (p.Gly314=) | gnomAD v4 |
| X | g.48688826C>T | CA516356421 | WAS | n.342C>T c.1098C>T (p.Gly366=) c.942C>T (p.Gly314=) | gnomAD v4 |
| X | g.48688828_48688829insCCCCCC | CA2693644729 | WAS | n.344_345insCCCCCC c.1100_1101insCCCCCC (p.Pro367_Pro368insProPro) c.944_945insCCCCCC (p.Pro315_Pro316insProPro) | gnomAD v4 |
| X | g.48688827C>A | CA412873285 | WAS | n.343C>A c.1099C>A (p.Pro367Thr) c.943C>A (p.Pro315Thr) | gnomAD v4 |
| X | g.48688827C>G | CA412873286 | WAS | n.343C>G c.1099C>G (p.Pro367Ala) c.943C>G (p.Pro315Ala) | |
| X | g.48688827C>T | CA412873287 | WAS | n.343C>T c.1099C>T (p.Pro367Ser) c.943C>T (p.Pro315Ser) | gnomAD v4 |
| X | g.48688829_48688831del | CA2579600722 | WAS | n.345_347del c.1101_1103del (p.Pro368del) c.945_947del (p.Pro316del) | |
| X | g.48688828C>A | CA412873288 | WAS | n.344C>A c.1100C>A (p.Pro367His) c.944C>A (p.Pro315His) | gnomAD v4 |
| X | g.48688828C>G | CA412873289 | WAS | n.344C>G c.1100C>G (p.Pro367Arg) c.944C>G (p.Pro315Arg) | |
| X | g.48688828C>T | CA412873290 | WAS | n.344C>T c.1100C>T (p.Pro367Leu) c.944C>T (p.Pro315Leu) | |
| X | g.48688829T>A | CA516356423 | WAS | n.345T>A c.1101T>A (p.Pro367=) c.945T>A (p.Pro315=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688829T>C | CA516356424 | WAS | n.345T>C c.1101T>C (p.Pro367=) c.945T>C (p.Pro315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688829T>G | CA516356425 | WAS | n.345T>G c.1101T>G (p.Pro367=) c.945T>G (p.Pro315=) | ClinVar |
| X | g.48688829T= | CA2428355697 | WAS | n.345T= c.1101T= (p.Pro367=) c.945T= (p.Pro315=) | |
| X | g.48688829_48688832delinsTCCA | CA2428355696 | WAS | n.345_348delinsTCCA c.1101_1104delinsTCCA (p.Pro367=) c.945_948delinsTCCA (p.Pro315=) | |
| X | g.48688830C>A | CA412873291 | WAS | n.346C>A c.1102C>A (p.Pro368Thr) c.946C>A (p.Pro316Thr) | gnomAD v4 |
| X | g.48688830C>G | CA412873292 | WAS | n.346C>G c.1102C>G (p.Pro368Ala) c.946C>G (p.Pro316Ala) | |
| X | g.48688830C>T | CA412873293 | WAS | n.346C>T c.1102C>T (p.Pro368Ser) c.946C>T (p.Pro316Ser) | gnomAD v4 |
| X | g.48688838_48688840del | CA641901739 | WAS | n.354_356del c.1110_1112del (p.Pro371del) c.954_956del (p.Pro319del) | dbSNP gnomAD v2 gnomAD v4 |
| 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.48688831C>A | CA412873294 | WAS | n.347C>A c.1103C>A (p.Pro368Gln) c.947C>A (p.Pro316Gln) | gnomAD v4 |
| X | g.48688831C>G | CA412873296 | WAS | n.347C>G c.1103C>G (p.Pro368Arg) c.947C>G (p.Pro316Arg) | |
| X | g.48688831C>T | CA412873295 | WAS | n.347C>T c.1103C>T (p.Pro368Leu) c.947C>T (p.Pro316Leu) | gnomAD v4 |
| X | g.48688832A= | CA2428355698 | WAS | n.348A= c.1104A= (p.Pro368=) c.948A= (p.Pro316=) | |
| X | g.48688832A>C | CA516356428 | WAS | n.348A>C c.1104A>C (p.Pro368=) c.948A>C (p.Pro316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688832A>G | CA516356429 | WAS | n.348A>G c.1104A>G (p.Pro368=) c.948A>G (p.Pro316=) | |
| X | g.48688832A>T | CA516356430 | WAS | n.348A>T c.1104A>T (p.Pro368=) c.948A>T (p.Pro316=) | gnomAD v4 |
| X | g.48688833C>A | CA412873297 | WAS | n.349C>A c.1105C>A (p.Pro369Thr) c.949C>A (p.Pro317Thr) | gnomAD v4 |
| X | g.48688833C= | CA2428355699 | WAS | n.349C= c.1105C= (p.Pro369=) c.949C= (p.Pro317=) | |
| X | g.48688833C>G | CA412873298 | WAS | n.349C>G c.1105C>G (p.Pro369Ala) c.949C>G (p.Pro317Ala) | dbSNP gnomAD v2 |
| X | g.48688833C>T | CA412873299 | WAS | n.349C>T c.1105C>T (p.Pro369Ser) c.949C>T (p.Pro317Ser) | gnomAD v4 |
| X | g.48688834C>A | CA412873300 | WAS | n.350C>A c.1106C>A (p.Pro369Gln) c.950C>A (p.Pro317Gln) | gnomAD v4 |
| X | g.48688834C= | CA2428355700 | WAS | n.350C= c.1106C= (p.Pro369=) c.950C= (p.Pro317=) | |
| X | g.48688834C>G | CA412873301 | WAS | n.350C>G c.1106C>G (p.Pro369Arg) c.950C>G (p.Pro317Arg) | |
| X | g.48688834C>T | CA412873303 | WAS | n.350C>T c.1106C>T (p.Pro369Leu) c.950C>T (p.Pro317Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688835A= | CA2428355701 | WAS | n.351A= c.1107A= (p.Pro369=) c.951A= (p.Pro317=) | |
| X | g.48688835A>C | CA516356434 | WAS | n.351A>C c.1107A>C (p.Pro369=) c.951A>C (p.Pro317=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688835A>G | CA10404036 | WAS | n.351A>G c.1107A>G (p.Pro369=) c.951A>G (p.Pro317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688835A>T | CA516356435 | WAS | n.351A>T c.1107A>T (p.Pro369=) c.951A>T (p.Pro317=) | |
| X | g.48688836C>A | CA412873304 | WAS | n.352C>A c.1108C>A (p.Pro370Thr) c.952C>A (p.Pro318Thr) | gnomAD v4 |
| X | g.48688836C>G | CA412873305 | WAS | n.352C>G c.1108C>G (p.Pro370Ala) c.952C>G (p.Pro318Ala) | |
| X | g.48688836C>T | CA412873306 | WAS | n.352C>T c.1108C>T (p.Pro370Ser) c.952C>T (p.Pro318Ser) | gnomAD v4 |
| X | g.48688837C>A | CA412873308 | WAS | n.353C>A c.1109C>A (p.Pro370Gln) c.953C>A (p.Pro318Gln) | gnomAD v4 |
| X | g.48688837C= | CA2428355702 | WAS | n.353C= c.1109C= (p.Pro370=) c.953C= (p.Pro318=) | |
| X | g.48688837C>G | CA412873309 | WAS | n.353C>G c.1109C>G (p.Pro370Arg) c.953C>G (p.Pro318Arg) | |
| X | g.48688837C>T | CA412873307 | WAS | n.353C>T c.1109C>T (p.Pro370Leu) c.953C>T (p.Pro318Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688838del | CA2695233775 | WAS | n.354del c.1110del (p.Pro372LeufsTer?) c.954del (p.Pro320LeufsTer?) | |
| X | g.48688838A= | CA2428355703 | WAS | n.354A= c.1110A= (p.Pro370=) c.954A= (p.Pro318=) | |
| X | g.48688838A>C | CA10404037 | WAS | n.354A>C c.1110A>C (p.Pro370=) c.954A>C (p.Pro318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688838A>G | CA516356441 | WAS | n.354A>G c.1110A>G (p.Pro370=) c.954A>G (p.Pro318=) | |
| X | g.48688838A>T | CA516356439 | WAS | n.354A>T c.1110A>T (p.Pro370=) c.954A>T (p.Pro318=) | |
| X | g.48688839C>A | CA412873310 | WAS | n.355C>A c.1111C>A (p.Pro371Thr) c.955C>A (p.Pro319Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688839C= | CA2428355704 | WAS | n.355C= c.1111C= (p.Pro371=) c.955C= (p.Pro319=) | |
| X | g.48688839C>G | CA412873311 | WAS | n.355C>G c.1111C>G (p.Pro371Ala) c.955C>G (p.Pro319Ala) | gnomAD v4 |
| X | g.48688839C>T | CA412873312 | WAS | n.355C>T c.1111C>T (p.Pro371Ser) c.955C>T (p.Pro319Ser) | |
| X | g.48688843del | CA2554499492 | WAS | n.359del c.1115del (p.Pro372LeufsTer?) c.959del (p.Pro320LeufsTer?) | gnomAD v4 |
| X | g.48688841_48688843del | CA2693644793 | WAS | n.357_359del c.1113_1115del (p.Pro372del) c.957_959del (p.Pro320del) | gnomAD v4 |
| X | g.48688840C>A | CA412873313 | WAS | n.356C>A c.1112C>A (p.Pro371His) c.956C>A (p.Pro319His) | gnomAD v4 |
| X | g.48688840C= | CA2428355705 | WAS | n.356C= c.1112C= (p.Pro371=) c.956C= (p.Pro319=) | |
| X | g.48688840C>G | CA412873314 | WAS | n.356C>G c.1112C>G (p.Pro371Arg) c.956C>G (p.Pro319Arg) | |
| X | g.48688840C>T | CA412873315 | WAS | n.356C>T c.1112C>T (p.Pro371Leu) c.956C>T (p.Pro319Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688841C>A | CA516356444 | WAS | n.357C>A c.1113C>A (p.Pro371=) c.957C>A (p.Pro319=) | gnomAD v4 |
| X | g.48688841C= | CA2428355706 | WAS | n.357C= c.1113C= (p.Pro371=) c.957C= (p.Pro319=) | |
| X | g.48688841C>G | CA516356445 | WAS | n.357C>G c.1113C>G (p.Pro371=) c.957C>G (p.Pro319=) | gnomAD v4 |
| X | g.48688841C>T | CA516356447 | WAS | n.357C>T c.1113C>T (p.Pro371=) c.957C>T (p.Pro319=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688842C>A | CA412873316 | WAS | n.358C>A c.1114C>A (p.Pro372Thr) c.958C>A (p.Pro320Thr) | |
| X | g.48688842C>G | CA412873317 | WAS | n.358C>G c.1114C>G (p.Pro372Ala) c.958C>G (p.Pro320Ala) | |
| X | g.48688842C>T | CA412873318 | WAS | n.358C>T c.1114C>T (p.Pro372Ser) c.958C>T (p.Pro320Ser) | |
| X | g.48688843C>A | CA412873319 | WAS | n.359C>A c.1115C>A (p.Pro372His) c.959C>A (p.Pro320His) | gnomAD v4 |
| X | g.48688843C= | CA2428355707 | WAS | n.359C= c.1115C= (p.Pro372=) c.959C= (p.Pro320=) | |
| X | g.48688843C>G | CA412873320 | WAS | n.359C>G c.1115C>G (p.Pro372Arg) c.959C>G (p.Pro320Arg) | |
| X | g.48688843C>T | CA10404038 | WAS | n.359C>T c.1115C>T (p.Pro372Leu) c.959C>T (p.Pro320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688844del | CA2695233776 | WAS | n.360del c.1116del (p.Pro373GlnfsTer?) c.960del (p.Pro321GlnfsTer?) | |
| X | g.48688844T>A | CA516356450 | WAS | n.360T>A c.1116T>A (p.Pro372=) c.960T>A (p.Pro320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688844T>C | CA516356452 | WAS | n.360T>C c.1116T>C (p.Pro372=) c.960T>C (p.Pro320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688844T>G | CA516356454 | WAS | n.360T>G c.1116T>G (p.Pro372=) c.960T>G (p.Pro320=) | gnomAD v4 |
| X | g.48688844T= | CA2428355708 | WAS | n.360T= c.1116T= (p.Pro372=) c.960T= (p.Pro320=) | |
| X | g.48688845C>A | CA412873323 | WAS | n.361C>A c.1117C>A (p.Pro373Thr) c.961C>A (p.Pro321Thr) | gnomAD v4 |
| X | g.48688845C= | CA2428355709 | WAS | n.361C= c.1117C= (p.Pro373=) c.961C= (p.Pro321=) | |
| X | g.48688845C>G | CA412873322 | WAS | n.361C>G c.1117C>G (p.Pro373Ala) c.961C>G (p.Pro321Ala) | |
| X | g.48688845C>T | CA412873321 | WAS | n.361C>T c.1117C>T (p.Pro373Ser) c.961C>T (p.Pro321Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688846C>A | CA412873324 | WAS | n.362C>A c.1118C>A (p.Pro373Gln) c.962C>A (p.Pro321Gln) | gnomAD v4 |
| X | g.48688846C= | CA2428355710 | WAS | n.362C= c.1118C= (p.Pro373=) c.962C= (p.Pro321=) | |
| X | g.48688846C>G | CA412873325 | WAS | n.362C>G c.1118C>G (p.Pro373Arg) c.962C>G (p.Pro321Arg) | |
| X | g.48688846C>T | CA412873326 | WAS | n.362C>T c.1118C>T (p.Pro373Leu) c.962C>T (p.Pro321Leu) | dbSNP gnomAD v4 |
| X | g.48688847A= | CA2428355711 | WAS | n.363A= c.1119A= (p.Pro373=) c.963A= (p.Pro321=) | |
| X | g.48688847A>C | CA516356231 | WAS | n.363A>C c.1119A>C (p.Pro373=) c.963A>C (p.Pro321=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688847A>G | CA516356233 | WAS | n.363A>G c.1119A>G (p.Pro373=) c.963A>G (p.Pro321=) | gnomAD v4 |
| X | g.48688847A>T | CA516356234 | WAS | n.363A>T c.1119A>T (p.Pro373=) c.963A>T (p.Pro321=) | |
| X | g.48688847dup | CA2580101062 | WAS | n.363dup c.1119dup (p.Ala374SerfsTer?) c.963dup (p.Ala322SerfsTer?) | ClinVar |
| X | g.48688848G>A | CA10404039 | WAS | n.364G>A c.1120G>A (p.Ala374Thr) c.964G>A (p.Ala322Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688848G>C | CA412873327 | WAS | n.364G>C c.1120G>C (p.Ala374Pro) c.964G>C (p.Ala322Pro) | gnomAD v4 |
| X | g.48688848G= | CA2428355712 | WAS | n.364G= c.1120G= (p.Ala374=) c.964G= (p.Ala322=) | |
| X | g.48688848G>T | CA412873328 | WAS | n.364G>T c.1120G>T (p.Ala374Ser) c.964G>T (p.Ala322Ser) | gnomAD v4 |
| X | g.48688849_48688855del | CA2695233777 | WAS | n.365_371del c.1121_1127del (p.Ala374AspfsTer?) c.965_971del (p.Ala322AspfsTer?) | |
| X | g.48688849C>A | CA412873329 | WAS | n.365C>A c.1121C>A (p.Ala374Asp) c.965C>A (p.Ala322Asp) | dbSNP gnomAD v4 |
| X | g.48688849C= | CA2428355713 | WAS | n.365C= c.1121C= (p.Ala374=) c.965C= (p.Ala322=) | |
| X | g.48688849C>G | CA412873330 | WAS | n.365C>G c.1121C>G (p.Ala374Gly) c.965C>G (p.Ala322Gly) | |
| X | g.48688849C>T | CA412873331 | WAS | n.365C>T c.1121C>T (p.Ala374Val) c.965C>T (p.Ala322Val) | |
| X | g.48688850T>A | CA516356235 | WAS | n.366T>A c.1122T>A (p.Ala374=) c.966T>A (p.Ala322=) | |
| X | g.48688850T>C | CA10404040 | WAS | n.366T>C c.1122T>C (p.Ala374=) c.966T>C (p.Ala322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688850T>G | CA516356236 | WAS | n.366T>G c.1122T>G (p.Ala374=) c.966T>G (p.Ala322=) | ClinVar |
| X | g.48688850T= | CA2428355714 | WAS | n.366T= c.1122T= (p.Ala374=) c.966T= (p.Ala322=) | |
| X | g.48688851A>C | CA412873332 | WAS | n.367A>C c.1123A>C (p.Thr375Pro) c.967A>C (p.Thr323Pro) | |
| X | g.48688851A>G | CA412873333 | WAS | n.367A>G c.1123A>G (p.Thr375Ala) c.967A>G (p.Thr323Ala) | gnomAD v4 |
| X | g.48688851A>T | CA412873334 | WAS | n.367A>T c.1123A>T (p.Thr375Ser) c.967A>T (p.Thr323Ser) | |
| X | g.48688853_48688857del | CA2695233778 | WAS | n.369_373del c.1125_1129del (p.Gly376PhefsTer?) c.969_973del (p.Gly324PhefsTer?) | |
| X | g.48688852del | CA2695233779 | WAS | n.368del c.1124del (p.Thr375MetfsTer?) c.968del (p.Thr323MetfsTer?) | |
| X | g.48688852C>A | CA412873337 | WAS | n.368C>A c.1124C>A (p.Thr375Asn) c.968C>A (p.Thr323Asn) | gnomAD v4 |
| X | g.48688852C>G | CA412873336 | WAS | n.368C>G c.1124C>G (p.Thr375Ser) c.968C>G (p.Thr323Ser) | |
| X | g.48688852C>T | CA412873335 | WAS | n.368C>T c.1124C>T (p.Thr375Ile) c.968C>T (p.Thr323Ile) | |
| X | g.48688853del | CA2579600723 | WAS | n.369del c.1125del (p.Gly376AspfsTer?) c.969del (p.Gly324AspfsTer?) | |
| X | g.48688853T>A | CA516356238 | WAS | n.369T>A c.1125T>A (p.Thr375=) c.969T>A (p.Thr323=) | ClinVar gnomAD v4 |
| X | g.48688853T>C | CA516356240 | WAS | n.369T>C c.1125T>C (p.Thr375=) c.969T>C (p.Thr323=) | gnomAD v4 |
| X | g.48688853T>G | CA516356241 | WAS | n.369T>G c.1125T>G (p.Thr375=) c.969T>G (p.Thr323=) | ClinVar |
| X | g.48688854G>A | CA412873338 | WAS | n.370G>A c.1126G>A (p.Gly376Arg) c.970G>A (p.Gly324Arg) | gnomAD v4 |
| X | g.48688854G>C | CA412873340 | WAS | n.370G>C c.1126G>C (p.Gly376Arg) c.970G>C (p.Gly324Arg) | |
| X | g.48688854G= | CA2428355715 | WAS | n.370G= c.1126G= (p.Gly376=) c.970G= (p.Gly324=) | |
| X | g.48688854G>T | CA412873339 | WAS | n.370G>T c.1126G>T (p.Gly376Ter) c.970G>T (p.Gly324Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688855del | CA2579600724 | WAS | n.371del c.1127del (p.Gly376AspfsTer?) c.971del (p.Gly324AspfsTer?) | |
| X | g.48688855G>A | CA412873341 | WAS | n.371G>A c.1127G>A (p.Gly376Glu) c.971G>A (p.Gly324Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688855G>C | CA412873343 | WAS | n.371G>C c.1127G>C (p.Gly376Ala) c.971G>C (p.Gly324Ala) | |
| X | g.48688855G= | CA2428355716 | WAS | n.371G= c.1127G= (p.Gly376=) c.971G= (p.Gly324=) | |
| X | g.48688855G>T | CA412873342 | WAS | n.371G>T c.1127G>T (p.Gly376Val) c.971G>T (p.Gly324Val) | gnomAD v4 |
| X | g.48688856A>C | CA516356242 | WAS | n.372A>C c.1128A>C (p.Gly376=) c.972A>C (p.Gly324=) | |
| X | g.48688856A>G | CA516356244 | WAS | n.372A>G c.1128A>G (p.Gly376=) c.972A>G (p.Gly324=) | ClinVar gnomAD v4 |
| X | g.48688856A>T | CA516356246 | WAS | n.372A>T c.1128A>T (p.Gly376=) c.972A>T (p.Gly324=) | gnomAD v4 |
| X | g.48688857C>A | CA412873344 | WAS | n.373C>A c.1129C>A (p.Arg377Ser) c.973C>A (p.Arg325Ser) | gnomAD v4 |
| X | g.48688857C= | CA2428355717 | WAS | n.373C= c.1129C= (p.Arg377=) c.973C= (p.Arg325=) | |
| X | g.48688857C>G | CA412873345 | WAS | n.373C>G c.1129C>G (p.Arg377Gly) c.973C>G (p.Arg325Gly) | |
| X | g.48688857C>T | CA412873346 | WAS | n.373C>T c.1129C>T (p.Arg377Cys) c.973C>T (p.Arg325Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688858G>A | CA329102263 | WAS | n.374G>A c.1130G>A (p.Arg377His) c.974G>A (p.Arg325His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688858G>C | CA412873347 | WAS | n.374G>C c.1130G>C (p.Arg377Pro) c.974G>C (p.Arg325Pro) | |
| X | g.48688858G= | CA2428355718 | WAS | n.374G= c.1130G= (p.Arg377=) c.974G= (p.Arg325=) | |
| X | g.48688858G>T | CA412873348 | WAS | n.374G>T c.1130G>T (p.Arg377Leu) c.974G>T (p.Arg325Leu) | gnomAD v4 |
| X | g.48688859T>A | CA516356248 | WAS | n.375T>A c.1131T>A (p.Arg377=) c.975T>A (p.Arg325=) | |
| X | g.48688859T>C | CA516356249 | WAS | n.375T>C c.1131T>C (p.Arg377=) c.975T>C (p.Arg325=) | gnomAD v4 |
| X | g.48688859T>G | CA516356250 | WAS | n.375T>G c.1131T>G (p.Arg377=) c.975T>G (p.Arg325=) | ClinVar gnomAD v4 |
| X | g.48688860T>A | CA412873351 | WAS | n.376T>A c.1132T>A (p.Ser378Thr) c.976T>A (p.Ser326Thr) | |
| X | g.48688860T>C | CA412873350 | WAS | n.376T>C c.1132T>C (p.Ser378Pro) c.976T>C (p.Ser326Pro) | |
| X | g.48688860T>G | CA412873349 | WAS | n.376T>G c.1132T>G (p.Ser378Ala) c.976T>G (p.Ser326Ala) | |
| X | g.48688861C>A | CA412873352 | WAS | n.377C>A c.1133C>A (p.Ser378Tyr) c.977C>A (p.Ser326Tyr) | gnomAD v4 |
| X | g.48688861C>G | CA412873353 | WAS | n.377C>G c.1133C>G (p.Ser378Cys) c.977C>G (p.Ser326Cys) | |
| X | g.48688861C>T | CA412873354 | WAS | n.377C>T c.1133C>T (p.Ser378Phe) c.977C>T (p.Ser326Phe) | |
| X | g.48688862T>A | CA516356253 | WAS | n.378T>A c.1134T>A (p.Ser378=) c.978T>A (p.Ser326=) | |
| X | g.48688862T>C | CA516356254 | WAS | n.378T>C c.1134T>C (p.Ser378=) c.978T>C (p.Ser326=) | gnomAD v4 |
| X | g.48688862T>G | CA516356252 | WAS | n.378T>G c.1134T>G (p.Ser378=) c.978T>G (p.Ser326=) | ClinVar |
| X | g.48688863G>A | CA412873355 | WAS | n.379G>A c.1135G>A (p.Gly379Arg) c.979G>A (p.Gly327Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688863G>C | CA412873356 | WAS | n.379G>C c.1135G>C (p.Gly379Arg) c.979G>C (p.Gly327Arg) | |
| X | g.48688863G= | CA2428355719 | WAS | n.379G= c.1135G= (p.Gly379=) c.979G= (p.Gly327=) | |
| X | g.48688863G>T | CA412873357 | WAS | n.379G>T c.1135G>T (p.Gly379Ter) c.979G>T (p.Gly327Ter) | gnomAD v4 |
| X | g.48688864G>A | CA412873358 | WAS | n.380G>A c.1136G>A (p.Gly379Glu) c.980G>A (p.Gly327Glu) | gnomAD v4 |
| X | g.48688864G>C | CA412873360 | WAS | n.380G>C c.1136G>C (p.Gly379Ala) c.980G>C (p.Gly327Ala) | |
| X | g.48688864G>T | CA412873359 | WAS | n.380G>T c.1136G>T (p.Gly379Val) c.980G>T (p.Gly327Val) | gnomAD v4 |
| X | g.48688865A= | CA2428355720 | WAS | n.381A= c.1137A= (p.Gly379=) c.981A= (p.Gly327=) | |
| X | g.48688865A>C | CA516356256 | WAS | n.381A>C c.1137A>C (p.Gly379=) c.981A>C (p.Gly327=) | dbSNP |
| X | g.48688865A>G | CA516356257 | WAS | n.381A>G c.1137A>G (p.Gly379=) c.981A>G (p.Gly327=) | gnomAD v4 |
| X | g.48688865A>T | CA516356258 | WAS | n.381A>T c.1137A>T (p.Gly379=) c.981A>T (p.Gly327=) | dbSNP |
| X | g.48688866C>A | CA412873361 | WAS | n.382C>A c.1138C>A (p.Pro380Thr) c.982C>A (p.Pro328Thr) | gnomAD v4 |
| X | g.48688866C>G | CA412873362 | WAS | n.382C>G c.1138C>G (p.Pro380Ala) c.982C>G (p.Pro328Ala) | |
| X | g.48688866C>T | CA412873363 | WAS | n.382C>T c.1138C>T (p.Pro380Ser) c.982C>T (p.Pro328Ser) | gnomAD v4 |
| X | g.48688867C>A | CA412873364 | WAS | n.383C>A c.1139C>A (p.Pro380Gln) c.983C>A (p.Pro328Gln) | gnomAD v4 |
| X | g.48688867C= | CA2428355721 | WAS | n.383C= c.1139C= (p.Pro380=) c.983C= (p.Pro328=) | |
| X | g.48688867C>G | CA412873365 | WAS | n.383C>G c.1139C>G (p.Pro380Arg) c.983C>G (p.Pro328Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688867C>T | CA412873366 | WAS | n.383C>T c.1139C>T (p.Pro380Leu) c.983C>T (p.Pro328Leu) | gnomAD v4 |
| X | g.48688868A>C | CA516356264 | WAS | n.384A>C c.1140A>C (p.Pro380=) c.984A>C (p.Pro328=) | ClinVar |
| X | g.48688868A>G | CA516356263 | WAS | n.384A>G c.1140A>G (p.Pro380=) c.984A>G (p.Pro328=) | |
| X | g.48688868A>T | CA516356262 | WAS | n.384A>T c.1140A>T (p.Pro380=) c.984A>T (p.Pro328=) | |
| X | g.48688869C>A | CA412873367 | WAS | n.385C>A c.1141C>A (p.Leu381Met) c.985C>A (p.Leu329Met) | gnomAD v4 |
| X | g.48688869C>G | CA412873368 | WAS | n.385C>G c.1141C>G (p.Leu381Val) c.985C>G (p.Leu329Val) | |
| X | g.48688869C>T | CA516356267 | WAS | n.385C>T c.1141C>T (p.Leu381=) c.985C>T (p.Leu329=) | gnomAD v4 |
| X | g.48688870T>A | CA412873370 | WAS | n.386T>A c.1142T>A (p.Leu381Gln) c.986T>A (p.Leu329Gln) | gnomAD v4 |
| X | g.48688870T>C | CA412873371 | WAS | n.386T>C c.1142T>C (p.Leu381Pro) c.986T>C (p.Leu329Pro) | gnomAD v4 |
| X | g.48688870T>G | CA412873372 | WAS | n.386T>G c.1142T>G (p.Leu381Arg) c.986T>G (p.Leu329Arg) | |
| X | g.48688871del | CA2695233780 | WAS | n.387del c.1143del (p.Pro383LeufsTer?) c.987del (p.Pro331LeufsTer?) | |
| X | g.48688871G>A | CA516356269 | WAS | n.387G>A c.1143G>A (p.Leu381=) c.987G>A (p.Leu329=) | |
| X | g.48688871G>C | CA516356270 | WAS | n.387G>C c.1143G>C (p.Leu381=) c.987G>C (p.Leu329=) | gnomAD v4 |
| X | g.48688871G>T | CA516356271 | WAS | n.387G>T c.1143G>T (p.Leu381=) c.987G>T (p.Leu329=) | gnomAD v4 |
| X | g.48688872C>A | CA412873373 | WAS | n.388C>A c.1144C>A (p.Pro382Thr) c.988C>A (p.Pro330Thr) | dbSNP gnomAD v4 |
| X | g.48688872C= | CA2428355722 | WAS | n.388C= c.1144C= (p.Pro382=) c.988C= (p.Pro330=) | |
| X | g.48688872C>G | CA412873375 | WAS | n.388C>G c.1144C>G (p.Pro382Ala) c.988C>G (p.Pro330Ala) | |
| X | g.48688872C>T | CA412873374 | WAS | n.388C>T c.1144C>T (p.Pro382Ser) c.988C>T (p.Pro330Ser) | gnomAD v4 |
| X | g.48688876dup | CA1139554019 | WAS | n.392dup c.1148dup (p.Pro384SerfsTer?) c.992dup (p.Pro332SerfsTer?) | |
| X | g.48688876del | CA2693644878 | WAS | n.392del c.1148del (p.Pro383LeufsTer?) c.992del (p.Pro331LeufsTer?) | gnomAD v4 |
| X | g.48688873C>A | CA412873376 | WAS | n.389C>A c.1145C>A (p.Pro382His) c.989C>A (p.Pro330His) | gnomAD v4 |
| X | g.48688873C>G | CA412873377 | WAS | n.389C>G c.1145C>G (p.Pro382Arg) c.989C>G (p.Pro330Arg) | |
| X | g.48688873C>T | CA412873378 | WAS | n.389C>T c.1145C>T (p.Pro382Leu) c.989C>T (p.Pro330Leu) | gnomAD v4 |
| X | g.48688874C>A | CA516356275 | WAS | n.390C>A c.1146C>A (p.Pro382=) c.990C>A (p.Pro330=) | gnomAD v4 |
| X | g.48688874C>G | CA516356276 | WAS | n.390C>G c.1146C>G (p.Pro382=) c.990C>G (p.Pro330=) | |
| X | g.48688874C>T | CA516356277 | WAS | n.390C>T c.1146C>T (p.Pro382=) c.990C>T (p.Pro330=) | gnomAD v4 COSMIC |
| X | g.48688875C>A | CA412873379 | WAS | n.391C>A c.1147C>A (p.Pro383Thr) c.991C>A (p.Pro331Thr) | gnomAD v4 |
| X | g.48688875C>G | CA412873380 | WAS | n.391C>G c.1147C>G (p.Pro383Ala) c.991C>G (p.Pro331Ala) | |
| X | g.48688875C>T | CA412873381 | WAS | n.391C>T c.1147C>T (p.Pro383Ser) c.991C>T (p.Pro331Ser) | gnomAD v4 |
| X | g.48688876C>A | CA412873382 | WAS | n.392C>A c.1148C>A (p.Pro383His) c.992C>A (p.Pro331His) | gnomAD v4 |
| X | g.48688876C>G | CA412873383 | WAS | n.392C>G c.1148C>G (p.Pro383Arg) c.992C>G (p.Pro331Arg) | |
| X | g.48688876C>T | CA412873384 | WAS | n.392C>T c.1148C>T (p.Pro383Leu) c.992C>T (p.Pro331Leu) | ClinVar gnomAD v4 |
| X | g.48688877T>A | CA516356281 | WAS | n.393T>A c.1149T>A (p.Pro383=) c.993T>A (p.Pro331=) | ClinVar gnomAD v3 gnomAD v4 |
| X | g.48688877T>C | CA516356282 | WAS | n.393T>C c.1149T>C (p.Pro383=) c.993T>C (p.Pro331=) | dbSNP gnomAD v4 |
| X | g.48688877T>G | CA516356283 | WAS | n.393T>G c.1149T>G (p.Pro383=) c.993T>G (p.Pro331=) | |
| X | g.48688877T= | CA2428355723 | WAS | n.393T= c.1149T= (p.Pro383=) c.993T= (p.Pro331=) | |
| X | g.48688878C>A | CA329102264 | WAS | n.394C>A c.1150C>A (p.Pro384Thr) c.994C>A (p.Pro332Thr) | dbSNP gnomAD v4 |
| X | g.48688878C= | CA2428355724 | WAS | n.394C= c.1150C= (p.Pro384=) c.994C= (p.Pro332=) | |
| X | g.48688878C>G | CA412873385 | WAS | n.394C>G c.1150C>G (p.Pro384Ala) c.994C>G (p.Pro332Ala) | gnomAD v4 |
| X | g.48688878C>T | CA10404041 | WAS | n.394C>T c.1150C>T (p.Pro384Ser) c.994C>T (p.Pro332Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688879dup | CA2695233781 | WAS | n.395dup c.1151dup (p.Pro385ThrfsTer?) c.995dup (p.Pro333ThrfsTer?) | |
| X | g.48688879del | CA2693644902 | WAS | n.395del c.1151del (p.Pro384HisfsTer?) c.995del (p.Pro332HisfsTer?) | gnomAD v4 |
| X | g.48688879C>A | CA412873389 | WAS | n.395C>A c.1151C>A (p.Pro384Gln) c.995C>A (p.Pro332Gln) | gnomAD v4 |
| X | g.48688879C>G | CA412873387 | WAS | n.395C>G c.1151C>G (p.Pro384Arg) c.995C>G (p.Pro332Arg) | |
| X | g.48688879C>T | CA412873388 | WAS | n.395C>T c.1151C>T (p.Pro384Leu) c.995C>T (p.Pro332Leu) | |
| X | g.48688880A= | CA2428355726 | WAS | n.396A= c.1152A= (p.Pro384=) c.996A= (p.Pro332=) | |
| X | g.48688880A>C | CA516356288 | WAS | n.396A>C c.1152A>C (p.Pro384=) c.996A>C (p.Pro332=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688880A>G | CA516356289 | WAS | n.396A>G c.1152A>G (p.Pro384=) c.996A>G (p.Pro332=) | gnomAD v4 |
| X | g.48688880A>T | CA516356290 | WAS | n.396A>T c.1152A>T (p.Pro384=) c.996A>T (p.Pro332=) | |
| X | g.48688880_48688881delinsAC | CA2428355725 | WAS | n.396_397delinsAC c.1152_1153delinsAC (p.Pro384=) c.996_997delinsAC (p.Pro332=) | |
| X | g.48688881C>A | CA412873390 | WAS | n.397C>A c.1153C>A (p.Pro385Thr) c.997C>A (p.Pro333Thr) | gnomAD v4 |
| X | g.48688881C= | CA2428355727 | WAS | n.397C= c.1153C= (p.Pro385=) c.997C= (p.Pro333=) | |
| X | g.48688881C>G | CA412873391 | WAS | n.397C>G c.1153C>G (p.Pro385Ala) c.997C>G (p.Pro333Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688881C>T | CA412873392 | WAS | n.397C>T c.1153C>T (p.Pro385Ser) c.997C>T (p.Pro333Ser) | gnomAD v4 |
| X | g.48688885dup | CA10603599 | WAS | n.401dup c.1157dup (p.Gly387TrpfsTer?) c.1001dup (p.Gly335TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
| X | g.48688885del | CA1139667532 | WAS | n.401del c.1157del (p.Pro386LeufsTer?) c.1001del (p.Pro334LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| X | g.48688882C>A | CA412873393 | WAS | n.398C>A c.1154C>A (p.Pro385His) c.998C>A (p.Pro333His) | gnomAD v4 |
| X | g.48688882C= | CA2428355728 | WAS | n.398C= c.1154C= (p.Pro385=) c.998C= (p.Pro333=) | |
| X | g.48688882C>G | CA412873394 | WAS | n.398C>G c.1154C>G (p.Pro385Arg) c.998C>G (p.Pro333Arg) | gnomAD v4 |
| X | g.48688882C>T | CA412873395 | WAS | n.398C>T c.1154C>T (p.Pro385Leu) c.998C>T (p.Pro333Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688883C>A | CA516356295 | WAS | n.399C>A c.1155C>A (p.Pro385=) c.999C>A (p.Pro333=) | gnomAD v4 |
| X | g.48688883C= | CA2428355729 | WAS | n.399C= c.1155C= (p.Pro385=) c.999C= (p.Pro333=) | |
| X | g.48688883C>G | CA516356294 | WAS | n.399C>G c.1155C>G (p.Pro385=) c.999C>G (p.Pro333=) | |
| X | g.48688883C>T | CA10404042 | WAS | n.399C>T c.1155C>T (p.Pro385=) c.999C>T (p.Pro333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688884C>A | CA412873396 | WAS | n.400C>A c.1156C>A (p.Pro386Thr) c.1000C>A (p.Pro334Thr) | gnomAD v4 |
| X | g.48688884C= | CA2428355730 | WAS | n.400C= c.1156C= (p.Pro386=) c.1000C= (p.Pro334=) | |
| X | g.48688884C>G | CA412873397 | WAS | n.400C>G c.1156C>G (p.Pro386Ala) c.1000C>G (p.Pro334Ala) | gnomAD v4 |
| X | g.48688884C>T | CA329102302 | WAS | n.400C>T c.1156C>T (p.Pro386Ser) c.1000C>T (p.Pro334Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688885C>A | CA412873400 | WAS | n.401C>A c.1157C>A (p.Pro386His) c.1001C>A (p.Pro334His) | dbSNP gnomAD v4 |
| X | g.48688885C= | CA2428355731 | WAS | n.401C= c.1157C= (p.Pro386=) c.1001C= (p.Pro334=) | |
| X | g.48688885C>G | CA412873399 | WAS | n.401C>G c.1157C>G (p.Pro386Arg) c.1001C>G (p.Pro334Arg) | |
| X | g.48688885C>T | CA412873398 | WAS | n.401C>T c.1157C>T (p.Pro386Leu) c.1001C>T (p.Pro334Leu) | gnomAD v4 |
| X | g.48688886del | CA2695233782 | WAS | n.402del c.1158del (p.Gly387GlufsTer?) c.1002del (p.Gly335GlufsTer?) | |
| X | g.48688886T>A | CA516356301 | WAS | n.402T>A c.1158T>A (p.Pro386=) c.1002T>A (p.Pro334=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688886T>C | CA516356300 | WAS | n.402T>C c.1158T>C (p.Pro386=) c.1002T>C (p.Pro334=) | dbSNP gnomAD v4 |
| X | g.48688886T>G | CA516356299 | WAS | n.402T>G c.1158T>G (p.Pro386=) c.1002T>G (p.Pro334=) | |
| X | g.48688886T= | CA2428355732 | WAS | n.402T= c.1158T= (p.Pro386=) c.1002T= (p.Pro334=) | |
| X | g.48688887G>A | CA412873401 | WAS | n.403G>A c.1159G>A (p.Gly387Arg) c.1003G>A (p.Gly335Arg) | gnomAD v4 |
| X | g.48688887G>C | CA412873403 | WAS | n.403G>C c.1159G>C (p.Gly387Arg) c.1003G>C (p.Gly335Arg) | |
| X | g.48688887G>T | CA412873405 | WAS | n.403G>T c.1159G>T (p.Gly387Ter) c.1003G>T (p.Gly335Ter) | gnomAD v4 |
| X | g.48688888G>A | CA412873406 | WAS | n.404G>A c.1160G>A (p.Gly387Glu) c.1004G>A (p.Gly335Glu) | gnomAD v4 |
| X | g.48688888G>C | CA412873407 | WAS | n.404G>C c.1160G>C (p.Gly387Ala) c.1004G>C (p.Gly335Ala) | |
| X | g.48688888G>T | CA412873408 | WAS | n.404G>T c.1160G>T (p.Gly387Val) c.1004G>T (p.Gly335Val) | gnomAD v4 |
| X | g.48688889A= | CA2428355733 | WAS | n.405A= c.1161A= (p.Gly387=) c.1005A= (p.Gly335=) | |
| X | g.48688889A>C | CA516356305 | WAS | n.405A>C c.1161A>C (p.Gly387=) c.1005A>C (p.Gly335=) | |
| X | g.48688889A>G | CA516356306 | WAS | n.405A>G c.1161A>G (p.Gly387=) c.1005A>G (p.Gly335=) | |
| X | g.48688889A>T | CA329102333 | WAS | n.405A>T c.1161A>T (p.Gly387=) c.1005A>T (p.Gly335=) | dbSNP |
| X | g.48688890G>A | CA412873411 | WAS | n.406G>A c.1162G>A (p.Ala388Thr) c.1006G>A (p.Ala336Thr) | gnomAD v4 |
| X | g.48688890G>C | CA412873410 | WAS | n.406G>C c.1162G>C (p.Ala388Pro) c.1006G>C (p.Ala336Pro) | |
| X | g.48688890G>T | CA412873409 | WAS | n.406G>T c.1162G>T (p.Ala388Ser) c.1006G>T (p.Ala336Ser) | gnomAD v4 |
| X | g.48688891C>A | CA412873412 | WAS | n.407C>A c.1163C>A (p.Ala388Asp) c.1007C>A (p.Ala336Asp) | gnomAD v4 |
| X | g.48688891C>G | CA412873413 | WAS | n.407C>G c.1163C>G (p.Ala388Gly) c.1007C>G (p.Ala336Gly) | gnomAD v4 |
| X | g.48688891C>T | CA412873414 | WAS | n.407C>T c.1163C>T (p.Ala388Val) c.1007C>T (p.Ala336Val) | gnomAD v4 |
| X | g.48688892T>A | CA516356310 | WAS | n.408T>A c.1164T>A (p.Ala388=) c.1008T>A (p.Ala336=) | |
| X | g.48688892T>C | CA516356311 | WAS | n.408T>C c.1164T>C (p.Ala388=) c.1008T>C (p.Ala336=) | gnomAD v4 |
| X | g.48688892T>G | CA516356312 | WAS | n.408T>G c.1164T>G (p.Ala388=) c.1008T>G (p.Ala336=) | |
| X | g.48688893G>A | CA412873415 | WAS | n.409G>A c.1165G>A (p.Gly389Ser) c.1009G>A (p.Gly337Ser) | gnomAD v4 |
| X | g.48688893G>C | CA412873416 | WAS | n.409G>C c.1165G>C (p.Gly389Arg) c.1009G>C (p.Gly337Arg) | |
| X | g.48688893G>T | CA412873417 | WAS | n.409G>T c.1165G>T (p.Gly389Cys) c.1009G>T (p.Gly337Cys) | gnomAD v4 |
| X | g.48688894G>A | CA412873418 | WAS | n.410G>A c.1166G>A (p.Gly389Asp) c.1010G>A (p.Gly337Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688894G>C | CA412873420 | WAS | n.410G>C c.1166G>C (p.Gly389Ala) c.1010G>C (p.Gly337Ala) | |
| X | g.48688894G= | CA2428355734 | WAS | n.410G= c.1166G= (p.Gly389=) c.1010G= (p.Gly337=) | |
| X | g.48688894G>T | CA412873419 | WAS | n.410G>T c.1166G>T (p.Gly389Val) c.1010G>T (p.Gly337Val) | gnomAD v4 |
| X | g.48688895T>A | CA516356316 | WAS | n.411T>A c.1167T>A (p.Gly389=) c.1011T>A (p.Gly337=) | gnomAD v4 |
| X | g.48688895T>C | CA516356317 | WAS | n.411T>C c.1167T>C (p.Gly389=) c.1011T>C (p.Gly337=) | gnomAD v4 |
| X | g.48688895T>G | CA516356318 | WAS | n.411T>G c.1167T>G (p.Gly389=) c.1011T>G (p.Gly337=) | |
| X | g.48688896G>A | CA412873421 | WAS | n.412G>A c.1168G>A (p.Gly390Arg) c.1012G>A (p.Gly338Arg) | |
| X | g.48688896G>C | CA412873422 | WAS | n.412G>C c.1168G>C (p.Gly390Arg) c.1012G>C (p.Gly338Arg) | |
| X | g.48688896G>T | CA412873423 | WAS | n.412G>T c.1168G>T (p.Gly390Trp) c.1012G>T (p.Gly338Trp) | gnomAD v4 |
| X | g.48688897G>A | CA412873424 | WAS | n.413G>A c.1169G>A (p.Gly390Glu) c.1013G>A (p.Gly338Glu) | gnomAD v4 |
| X | g.48688897G>C | CA412873425 | WAS | n.413G>C c.1169G>C (p.Gly390Ala) c.1013G>C (p.Gly338Ala) | |
| X | g.48688897G>T | CA412873426 | WAS | n.413G>T c.1169G>T (p.Gly390Val) c.1013G>T (p.Gly338Val) | gnomAD v4 |
| X | g.48688898G>A | CA516356320 | WAS | n.414G>A c.1170G>A (p.Gly390=) c.1014G>A (p.Gly338=) | dbSNP gnomAD v4 |
| X | g.48688898G>C | CA516356321 | WAS | n.414G>C c.1170G>C (p.Gly390=) c.1014G>C (p.Gly338=) | |
| X | g.48688898G= | CA2428355735 | WAS | n.414G= c.1170G= (p.Gly390=) c.1014G= (p.Gly338=) | |
| X | g.48688898G>T | CA516356322 | WAS | n.414G>T c.1170G>T (p.Gly390=) c.1014G>T (p.Gly338=) | |
| X | g.48688899C>A | CA412873427 | WAS | n.415C>A c.1171C>A (p.Pro391Thr) c.1015C>A (p.Pro339Thr) | gnomAD v4 |
| X | g.48688899C>G | CA412873428 | WAS | n.415C>G c.1171C>G (p.Pro391Ala) c.1015C>G (p.Pro339Ala) | |
| X | g.48688899C>T | CA412873429 | WAS | n.415C>T c.1171C>T (p.Pro391Ser) c.1015C>T (p.Pro339Ser) | gnomAD v4 |
| X | g.48688901_48688903del | CA2499214011 | WAS | n.417_419del c.1173_1175del (p.Pro392del) c.1017_1019del (p.Pro340del) | gnomAD v4 |
| X | g.48688900C>A | CA412873430 | WAS | n.416C>A c.1172C>A (p.Pro391Gln) c.1016C>A (p.Pro339Gln) | |
| X | g.48688900C= | CA2428355736 | WAS | n.416C= c.1172C= (p.Pro391=) c.1016C= (p.Pro339=) | |
| X | g.48688900C>G | CA412873431 | WAS | n.416C>G c.1172C>G (p.Pro391Arg) c.1016C>G (p.Pro339Arg) | |
| X | g.48688900C>T | CA412873432 | WAS | n.416C>T c.1172C>T (p.Pro391Leu) c.1016C>T (p.Pro339Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |