| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| X | g.48689027G>A | CA207682 | WAS | n.543G>A c.1299G>A (p.Ala433=) n.8G>A c.1143G>A (p.Ala381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48689027G>C | CA516356510 | WAS | n.543G>C c.1299G>C (p.Ala433=) n.8G>C c.1143G>C (p.Ala381=) | |
| X | g.48689027G= | CA2428355800 | WAS | n.543G= c.1299G= (p.Ala433=) n.8G= c.1143G= (p.Ala381=) | |
| X | g.48689027G>T | CA516356511 | WAS | n.543G>T c.1299G>T (p.Ala433=) n.8G>T c.1143G>T (p.Ala381=) | ClinVar gnomAD v4 |
| X | g.48689028C>A | CA412873672 | WAS | n.544C>A c.1300C>A (p.Leu434Ile) n.9C>A c.1144C>A (p.Leu382Ile) | |
| X | g.48689028C= | CA2428355801 | WAS | n.544C= c.1300C= (p.Leu434=) n.9C= c.1144C= (p.Leu382=) | |
| X | g.48689028C>G | CA412873673 | WAS | n.544C>G c.1300C>G (p.Leu434Val) n.9C>G c.1144C>G (p.Leu382Val) | gnomAD v4 |
| X | g.48689028C>T | CA10404070 | WAS | n.544C>T c.1300C>T (p.Leu434Phe) n.9C>T c.1144C>T (p.Leu382Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689029T>A | CA412873674 | WAS | n.545T>A c.1301T>A (p.Leu434His) n.10T>A c.1145T>A (p.Leu382His) | |
| X | g.48689029T>C | CA412873676 | WAS | n.545T>C c.1301T>C (p.Leu434Pro) n.10T>C c.1145T>C (p.Leu382Pro) | |
| X | g.48689029T>G | CA412873675 | WAS | n.545T>G c.1301T>G (p.Leu434Arg) n.10T>G c.1145T>G (p.Leu382Arg) | |
| X | g.48689030T>A | CA516356512 | WAS | n.546T>A c.1302T>A (p.Leu434=) n.11T>A c.1146T>A (p.Leu382=) | |
| X | g.48689030T>C | CA516356513 | WAS | n.546T>C c.1302T>C (p.Leu434=) n.11T>C c.1146T>C (p.Leu382=) | |
| X | g.48689030T>G | CA516356514 | WAS | n.546T>G c.1302T>G (p.Leu434=) n.11T>G c.1146T>G (p.Leu382=) | |
| X | g.48689031T>A | CA412873677 | WAS | n.547T>A c.1303T>A (p.Leu435Met) n.12T>A c.1147T>A (p.Leu383Met) | |
| X | g.48689031T>C | CA516356515 | WAS | n.547T>C c.1303T>C (p.Leu435=) n.12T>C c.1147T>C (p.Leu383=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689031T>G | CA412873678 | WAS | n.547T>G c.1303T>G (p.Leu435Val) n.12T>G c.1147T>G (p.Leu383Val) | |
| X | g.48689031T= | CA2428355802 | WAS | n.547T= c.1303T= (p.Leu435=) n.12T= c.1147T= (p.Leu383=) | |
| X | g.48689032T>A | CA412873679 | WAS | n.548T>A c.1304T>A (p.Leu435Ter) n.13T>A c.1148T>A (p.Leu383Ter) | |
| X | g.48689032T>C | CA412873680 | WAS | n.548T>C c.1304T>C (p.Leu435Ser) n.13T>C c.1148T>C (p.Leu383Ser) | |
| X | g.48689032T>G | CA412873681 | WAS | n.548T>G c.1304T>G (p.Leu435Trp) n.13T>G c.1148T>G (p.Leu383Trp) | dbSNP |
| X | g.48689032T= | CA2428355803 | WAS | n.548T= c.1304T= (p.Leu435=) n.13T= c.1148T= (p.Leu383=) | |
| X | g.48689033G>A | CA516356516 | WAS | n.549G>A c.1305G>A (p.Leu435=) n.14G>A c.1149G>A (p.Leu383=) | |
| X | g.48689033G>C | CA412873682 | WAS | n.549G>C c.1305G>C (p.Leu435Phe) n.14G>C c.1149G>C (p.Leu383Phe) | |
| X | g.48689033G>T | CA412873683 | WAS | n.549G>T c.1305G>T (p.Leu435Phe) n.14G>T c.1149G>T (p.Leu383Phe) | gnomAD v4 |
| X | g.48689034G>A | CA412873684 | WAS | n.550G>A c.1306G>A (p.Asp436Asn) n.15G>A c.1150G>A (p.Asp384Asn) | |
| X | g.48689034G>C | CA412873685 | WAS | n.550G>C c.1306G>C (p.Asp436His) n.15G>C c.1150G>C (p.Asp384His) | |
| X | g.48689034G= | CA2428355804 | WAS | n.550G= c.1306G= (p.Asp436=) n.15G= c.1150G= (p.Asp384=) | |
| X | g.48689034G>T | CA10404071 | WAS | n.550G>T c.1306G>T (p.Asp436Tyr) n.15G>T c.1150G>T (p.Asp384Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689035A>C | CA412873686 | WAS | n.551A>C c.1307A>C (p.Asp436Ala) n.16A>C c.1151A>C (p.Asp384Ala) | |
| X | g.48689035A>G | CA412873688 | WAS | n.551A>G c.1307A>G (p.Asp436Gly) n.16A>G c.1151A>G (p.Asp384Gly) | |
| X | g.48689035A>T | CA412873687 | WAS | n.551A>T c.1307A>T (p.Asp436Val) n.16A>T c.1151A>T (p.Asp384Val) | |
| X | g.48689036T>A | CA412873689 | WAS | n.552T>A c.1308T>A (p.Asp436Glu) n.17T>A c.1152T>A (p.Asp384Glu) | |
| X | g.48689036T>C | CA516356517 | WAS | n.552T>C c.1308T>C (p.Asp436=) n.17T>C c.1152T>C (p.Asp384=) | |
| X | g.48689036T>G | CA412873690 | WAS | n.552T>G c.1308T>G (p.Asp436Glu) n.17T>G c.1152T>G (p.Asp384Glu) | |
| X | g.48689037C>A | CA412873691 | WAS | n.553C>A c.1309C>A (p.Gln437Lys) n.18C>A c.1153C>A (p.Gln385Lys) | |
| X | g.48689037C>G | CA412873692 | WAS | n.553C>G c.1309C>G (p.Gln437Glu) n.18C>G c.1153C>G (p.Gln385Glu) | |
| X | g.48689037C>T | CA412873693 | WAS | n.553C>T c.1309C>T (p.Gln437Ter) n.18C>T c.1153C>T (p.Gln385Ter) | gnomAD v4 |
| X | g.48689038A= | CA2428355805 | WAS | n.554A= c.1310A= (p.Gln437=) n.19A= c.1154A= (p.Gln385=) | |
| X | g.48689038A>C | CA412873694 | WAS | n.554A>C c.1310A>C (p.Gln437Pro) n.19A>C c.1154A>C (p.Gln385Pro) | ClinVar dbSNP |
| X | g.48689038A>G | CA412873695 | WAS | n.554A>G c.1310A>G (p.Gln437Arg) n.19A>G c.1154A>G (p.Gln385Arg) | |
| X | g.48689038A>T | CA412873696 | WAS | n.554A>T c.1310A>T (p.Gln437Leu) n.19A>T c.1154A>T (p.Gln385Leu) | |
| X | g.48689039A>C | CA412873697 | WAS | n.555A>C c.1311A>C (p.Gln437His) n.20A>C c.1155A>C (p.Gln385His) | |
| X | g.48689039A>G | CA516356518 | WAS | n.555A>G c.1311A>G (p.Gln437=) n.20A>G c.1155A>G (p.Gln385=) | |
| X | g.48689039A>T | CA412873698 | WAS | n.555A>T c.1311A>T (p.Gln437His) n.20A>T c.1155A>T (p.Gln385His) | |
| X | g.48689040A>C | CA412873699 | WAS | n.556A>C c.1312A>C (p.Ile438Leu) n.21A>C c.1156A>C (p.Ile386Leu) | |
| X | g.48689040A>G | CA412873700 | WAS | n.556A>G c.1312A>G (p.Ile438Val) n.21A>G c.1156A>G (p.Ile386Val) | |
| X | g.48689040A>T | CA412873701 | WAS | n.556A>T c.1312A>T (p.Ile438Phe) n.21A>T c.1156A>T (p.Ile386Phe) | |
| X | g.48689041T>A | CA412873704 | WAS | n.557T>A c.1313T>A (p.Ile438Asn) n.22T>A c.1157T>A (p.Ile386Asn) | |
| X | g.48689041T>C | CA412873703 | WAS | n.557T>C c.1313T>C (p.Ile438Thr) n.22T>C c.1157T>C (p.Ile386Thr) | |
| X | g.48689041T>G | CA412873702 | WAS | n.557T>G c.1313T>G (p.Ile438Ser) n.22T>G c.1157T>G (p.Ile386Ser) | |
| X | g.48689042C>A | CA10404072 | WAS | n.558C>A c.1314C>A (p.Ile438=) n.23C>A c.1158C>A (p.Ile386=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689042C= | CA2428355806 | WAS | n.558C= c.1314C= (p.Ile438=) n.23C= c.1158C= (p.Ile386=) | |
| X | g.48689042C>G | CA412873705 | WAS | n.558C>G c.1314C>G (p.Ile438Met) n.23C>G c.1158C>G (p.Ile386Met) | |
| X | g.48689042C>T | CA516356519 | WAS | n.558C>T c.1314C>T (p.Ile438=) n.23C>T c.1158C>T (p.Ile386=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689042_48689638delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | CA2428355807 | WAS | c.1314_1453+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA c.1158_1297+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | |
| X | g.48689043C>A | CA516356520 | WAS | n.559C>A c.1315C>A (p.Arg439=) n.24C>A c.1159C>A (p.Arg387=) | |
| X | g.48689043C>G | CA412873706 | WAS | n.559C>G c.1315C>G (p.Arg439Gly) n.24C>G c.1159C>G (p.Arg387Gly) | |
| X | g.48689043C>T | CA412873707 | WAS | n.559C>T c.1315C>T (p.Arg439Trp) n.24C>T c.1159C>T (p.Arg387Trp) | |
| X | g.48689043_48689638del | CA915951088 | WAS | c.1315_1453+204del c.1159_1297+204del | ClinVar dbSNP |
| X | g.48689044G>A | CA412873708 | WAS | n.560G>A c.1316G>A (p.Arg439Gln) n.25G>A c.1160G>A (p.Arg387Gln) | gnomAD v4 |
| X | g.48689044G>C | CA412873709 | WAS | n.560G>C c.1316G>C (p.Arg439Pro) n.25G>C c.1160G>C (p.Arg387Pro) | ClinVar dbSNP |
| X | g.48689044G= | CA2428355808 | WAS | n.560G= c.1316G= (p.Arg439=) n.25G= c.1160G= (p.Arg387=) | |
| X | g.48689044G>T | CA412873710 | WAS | n.560G>T c.1316G>T (p.Arg439Leu) n.25G>T c.1160G>T (p.Arg387Leu) | |
| X | g.48689045G>A | CA516356521 | WAS | n.561G>A c.1317G>A (p.Arg439=) n.26G>A c.1161G>A (p.Arg387=) | |
| X | g.48689045G>C | CA516356522 | WAS | n.561G>C c.1317G>C (p.Arg439=) n.26G>C c.1161G>C (p.Arg387=) | gnomAD v4 |
| X | g.48689045G= | CA2428355809 | WAS | n.561G= c.1317G= (p.Arg439=) n.26G= c.1161G= (p.Arg387=) | |
| X | g.48689045G>T | CA329102500 | WAS | n.561G>T c.1317G>T (p.Arg439=) n.26G>T c.1161G>T (p.Arg387=) | dbSNP gnomAD v4 |
| X | g.48689045_48689046delinsTT | CA2695233807 | WAS | n.561_562delinsTT c.1317_1318delinsTT (p.Arg440Ter) n.26_27delinsTT c.1161_1162delinsTT (p.Arg388Ter) | |
| X | g.48689046C>A | CA412873711 | WAS | n.562C>A c.1318C>A (p.Gln440Lys) n.27C>A c.1162C>A (p.Gln388Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689046C= | CA2428355810 | WAS | n.562C= c.1318C= (p.Gln440=) n.27C= c.1162C= (p.Gln388=) | |
| X | g.48689046C>G | CA412873712 | WAS | n.562C>G c.1318C>G (p.Gln440Glu) n.27C>G c.1162C>G (p.Gln388Glu) | |
| X | g.48689046C>T | CA412873713 | WAS | n.562C>T c.1318C>T (p.Gln440Ter) n.27C>T c.1162C>T (p.Gln388Ter) | ClinVar |
| X | g.48689047A>C | CA412873714 | WAS | n.563A>C c.1319A>C (p.Gln440Pro) n.28A>C c.1163A>C (p.Gln388Pro) | |
| X | g.48689047A>G | CA412873715 | WAS | n.563A>G c.1319A>G (p.Gln440Arg) n.28A>G c.1163A>G (p.Gln388Arg) | gnomAD v4 |
| X | g.48689047A>T | CA412873716 | WAS | n.563A>T c.1319A>T (p.Gln440Leu) n.28A>T c.1163A>T (p.Gln388Leu) | |
| X | g.48689048G>A | CA10404073 | WAS | n.564G>A c.1320G>A (p.Gln440=) n.29G>A c.1164G>A (p.Gln388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689048G>C | CA412873718 | WAS | n.564G>C c.1320G>C (p.Gln440His) n.29G>C c.1164G>C (p.Gln388His) | |
| X | g.48689048G= | CA2428355811 | WAS | n.564G= c.1320G= (p.Gln440=) n.29G= c.1164G= (p.Gln388=) | |
| X | g.48689048G>T | CA412873717 | WAS | n.564G>T c.1320G>T (p.Gln440His) n.29G>T c.1164G>T (p.Gln388His) | |
| X | g.48689049G>A | CA412873721 | WAS | n.565G>A c.1321G>A (p.Gly441Arg) n.30G>A c.1165G>A (p.Gly389Arg) | |
| X | g.48689049G>C | CA412873719 | WAS | n.565G>C c.1321G>C (p.Gly441Arg) n.30G>C c.1165G>C (p.Gly389Arg) | |
| X | g.48689049G>T | CA412873720 | WAS | n.565G>T c.1321G>T (p.Gly441Ter) n.30G>T c.1165G>T (p.Gly389Ter) | gnomAD v4 |
| X | g.48689050G>A | CA412873722 | WAS | n.566G>A c.1322G>A (p.Gly441Glu) n.31G>A c.1166G>A (p.Gly389Glu) | |
| X | g.48689050G>C | CA412873723 | WAS | n.566G>C c.1322G>C (p.Gly441Ala) n.31G>C c.1166G>C (p.Gly389Ala) | |
| X | g.48689050G>T | CA412873724 | WAS | n.566G>T c.1322G>T (p.Gly441Val) n.31G>T c.1166G>T (p.Gly389Val) | |
| X | g.48689051A>C | CA516356523 | WAS | n.567A>C c.1323A>C (p.Gly441=) n.32A>C c.1167A>C (p.Gly389=) | |
| X | g.48689051A>G | CA516356524 | WAS | n.567A>G c.1323A>G (p.Gly441=) n.32A>G c.1167A>G (p.Gly389=) | |
| X | g.48689051A>T | CA516356525 | WAS | n.567A>T c.1323A>T (p.Gly441=) n.32A>T c.1167A>T (p.Gly389=) | |
| X | g.48689052A= | CA2428355812 | WAS | n.568A= c.1324A= (p.Ile442=) n.33A= c.1168A= (p.Ile390=) | |
| X | g.48689052A>C | CA412873725 | WAS | n.568A>C c.1324A>C (p.Ile442Leu) n.33A>C c.1168A>C (p.Ile390Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689052A>G | CA412873726 | WAS | n.568A>G c.1324A>G (p.Ile442Val) n.33A>G c.1168A>G (p.Ile390Val) | |
| X | g.48689052A>T | CA412873727 | WAS | n.568A>T c.1324A>T (p.Ile442Phe) n.33A>T c.1168A>T (p.Ile390Phe) | |
| X | g.48689053T>A | CA412873728 | WAS | n.569T>A c.1325T>A (p.Ile442Asn) n.34T>A c.1169T>A (p.Ile390Asn) | |
| X | g.48689053T>C | CA412873729 | WAS | n.569T>C c.1325T>C (p.Ile442Thr) n.34T>C c.1169T>C (p.Ile390Thr) | |
| X | g.48689053T>G | CA412873730 | WAS | n.569T>G c.1325T>G (p.Ile442Ser) n.34T>G c.1169T>G (p.Ile390Ser) | |
| X | g.48689054T>A | CA516356526 | WAS | n.570T>A c.1326T>A (p.Ile442=) n.35T>A c.1170T>A (p.Ile390=) | |
| X | g.48689054T>C | CA516356527 | WAS | n.570T>C c.1326T>C (p.Ile442=) n.35T>C c.1170T>C (p.Ile390=) | |
| X | g.48689054T>G | CA412873731 | WAS | n.570T>G c.1326T>G (p.Ile442Met) n.35T>G c.1170T>G (p.Ile390Met) | |
| X | g.48689055C>A | CA412873734 | WAS | n.571C>A c.1327C>A (p.Gln443Lys) n.36C>A c.1171C>A (p.Gln391Lys) | |
| X | g.48689055C>G | CA412873733 | WAS | n.571C>G c.1327C>G (p.Gln443Glu) n.36C>G c.1171C>G (p.Gln391Glu) | |
| X | g.48689055C>T | CA412873732 | WAS | n.571C>T c.1327C>T (p.Gln443Ter) n.36C>T c.1171C>T (p.Gln391Ter) | |
| X | g.48689056A>C | CA412873735 | WAS | n.572A>C c.1328A>C (p.Gln443Pro) n.37A>C c.1172A>C (p.Gln391Pro) | |
| X | g.48689056A>G | CA412873736 | WAS | n.572A>G c.1328A>G (p.Gln443Arg) n.37A>G c.1172A>G (p.Gln391Arg) | |
| X | g.48689056A>T | CA412873737 | WAS | n.572A>T c.1328A>T (p.Gln443Leu) n.37A>T c.1172A>T (p.Gln391Leu) | |
| X | g.48689057G>A | CA516356528 | WAS | n.573G>A c.1329G>A (p.Gln443=) n.38G>A c.1173G>A (p.Gln391=) | |
| X | g.48689057G>C | CA412873738 | WAS | n.573G>C c.1329G>C (p.Gln443His) n.38G>C c.1173G>C (p.Gln391His) | gnomAD v4 |
| X | g.48689057G>T | CA412873739 | WAS | n.573G>T c.1329G>T (p.Gln443His) n.38G>T c.1173G>T (p.Gln391His) | gnomAD v4 |