| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688205A>T | CA2693644019 | WAS | n.919A>T c.778-95A>T (n.778-95A>T) | gnomAD v4 |
| X | g.48688207C>A | CA2693644021 | WAS | n.921C>A c.778-93C>A (n.778-93C>A) | gnomAD v4 |
| X | g.48688207C>T | CA2693644022 | WAS | n.921C>T c.778-93C>T (n.778-93C>T) | gnomAD v4 |
| X | g.48688208C= | CA2428355487 | WAS | n.922C= c.778-92C= (n.778-92C=) | |
| X | g.48688208C>T | CA2428355488 | WAS | n.922C>T c.778-92C>T (n.778-92C>T) | dbSNP |
| X | g.48688209C>T | CA2693644023 | WAS | n.923C>T c.778-91C>T (n.778-91C>T) | gnomAD v4 |
| X | g.48688215G>T | CA2579600693 | WAS | n.929G>T c.778-85G>T (n.778-85G>T) | |
| X | g.48688217del | CA2738504633 | WAS | n.931del c.778-83del (n.778-83del) | dbSNP |
| X | g.48688216G= | CA2428355489 | WAS | n.930G= c.778-84G= (n.778-84G=) | |
| X | g.48688216G>T | CA2428355490 | WAS | n.930G>T c.778-84G>T (n.778-84G>T) | dbSNP gnomAD v4 |
| X | g.48688225del | CA2693644025 | WAS | n.939del c.778-75del (n.778-75del) | gnomAD v4 |
| X | g.48688224C>A | CA2579600694 | WAS | n.938C>A c.778-76C>A (n.778-76C>A) | |
| X | g.48688224C>G | CA2693644026 | WAS | n.938C>G c.778-76C>G (n.778-76C>G) | gnomAD v4 |
| X | g.48688225C>T | CA2820813089 | WAS | n.939C>T c.778-75C>T (n.778-75C>T) | |
| X | g.48688225_48688238delinsCAACGACAATCCAT | CA2428355491 | WAS | n.939_952delinsCAACGACAATCCAT c.778-75_778-62delinsCAACGACAATCCAT (n.778-75_778-62delinsCAACGACAATCCAT) | |
| X | g.48688226_48688238del | CA1132960971 | WAS | n.940_952del c.778-74_778-62del (n.778-74_778-62del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688227A= | CA2428355492 | WAS | n.941A= c.778-73A= (n.778-73A=) | |
| X | g.48688227A>G | CA875916327 | WAS | n.941A>G c.778-73A>G (n.778-73A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688228C>A | CA641901820 | WAS | n.942C>A c.778-72C>A (n.778-72C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688228C= | CA2428355493 | WAS | n.942C= c.778-72C= (n.778-72C=) | |
| X | g.48688228C>G | CA329101881 | WAS | n.942C>G c.778-72C>G (n.778-72C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688228C>T | CA1132960973 | WAS | n.942C>T c.778-72C>T (n.778-72C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688229G>A | CA329101886 | WAS | n.943G>A c.778-71G>A (n.778-71G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688229G= | CA2428355494 | WAS | n.943G= c.778-71G= (n.778-71G=) | |
| X | g.48688231C>A | CA875916334 | WAS | n.945C>A c.778-69C>A (n.778-69C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688231C= | CA2428355495 | WAS | n.945C= c.778-69C= (n.778-69C=) | |
| X | g.48688232A>C | CA2693644038 | WAS | n.946A>C c.778-68A>C (n.778-68A>C) | gnomAD v4 |
| X | g.48688232A>G | CA2693644039 | WAS | n.946A>G c.778-68A>G (n.778-68A>G) | gnomAD v4 |
| X | g.48688233A>G | CA2693644041 | WAS | n.947A>G c.778-67A>G (n.778-67A>G) | gnomAD v4 |
| X | g.48688235C>A | CA2693644043 | WAS | n.949C>A c.778-65C>A (n.778-65C>A) | gnomAD v4 |
| X | g.48688236C>A | CA2693644044 | WAS | n.950C>A c.778-64C>A (n.778-64C>A) | gnomAD v4 |
| X | g.48688236C>T | CA2693644046 | WAS | n.950C>T c.778-64C>T (n.778-64C>T) | gnomAD v4 |
| X | g.48688237A>G | CA2693644047 | WAS | n.951A>G c.778-63A>G (n.778-63A>G) | gnomAD v4 |
| X | g.48688238T>A | CA2693644049 | WAS | n.952T>A c.778-62T>A (n.778-62T>A) | gnomAD v4 |
| X | g.48688238T>C | CA1132960976 | WAS | n.952T>C c.778-62T>C (n.778-62T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688238T= | CA2428355496 | WAS | n.952T= c.778-62T= (n.778-62T=) | |
| X | g.48688241C>A | CA1132960977 | WAS | n.955C>A c.778-59C>A (n.778-59C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688241C= | CA2428355497 | WAS | n.955C= c.778-59C= (n.778-59C=) | |
| X | g.48688241C>T | CA329101891 | WAS | n.955C>T c.778-59C>T (n.778-59C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688242G>A | CA329101892 | WAS | n.956G>A c.778-58G>A (n.778-58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688242G= | CA2428355498 | WAS | n.956G= c.778-58G= (n.778-58G=) | |
| X | g.48688242G>T | CA2693644056 | WAS | n.956G>T c.778-58G>T (n.778-58G>T) | gnomAD v4 |
| X | g.48688246G>A | CA2693644058 | WAS | n.960G>A c.778-54G>A (n.778-54G>A) | gnomAD v4 |
| X | g.48688248C>A | CA2555361994 | WAS | n.962C>A c.778-52C>A (n.778-52C>A) | gnomAD v4 |
| X | g.48688250C>A | CA2693644059 | WAS | n.964C>A c.778-50C>A (n.778-50C>A) | gnomAD v4 |
| X | g.48688250C= | CA2428355499 | WAS | n.964C= c.778-50C= (n.778-50C=) | |
| X | g.48688250C>T | CA641901821 | WAS | n.964C>T c.778-50C>T (n.778-50C>T) | dbSNP gnomAD v2 |
| X | g.48688253C>A | CA2510270036 | WAS | n.967C>A c.778-47C>A (n.778-47C>A) | gnomAD v4 |
| X | g.48688253C= | CA2428355500 | WAS | n.967C= c.778-47C= (n.778-47C=) | |
| X | g.48688253C>T | CA10403986 | WAS | n.967C>T c.778-47C>T (n.778-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688254G>A | CA10403987 | WAS | n.968G>A c.778-46G>A (n.778-46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688254G= | CA2428355501 | WAS | n.968G= c.778-46G= (n.778-46G=) | |
| X | g.48688254G>T | CA2693644070 | WAS | n.968G>T c.778-46G>T (n.778-46G>T) | gnomAD v4 |
| X | g.48688257T>A | CA2693644072 | WAS | n.971T>A c.778-43T>A (n.778-43T>A) | gnomAD v4 |
| X | g.48688258T>A | CA657966392 | WAS | n.972T>A c.778-42T>A (n.778-42T>A) | COSMIC |
| X | g.48688259del | CA2820813097 | WAS | n.973del c.778-41del (n.778-41del) | |
| X | g.48688259A= | CA2428355502 | WAS | n.973A= c.778-41A= (n.778-41A=) | |
| X | g.48688259A>C | CA641901822 | WAS | n.973A>C c.778-41A>C (n.778-41A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688261T>G | CA2693644075 | WAS | n.975T>G c.778-39T>G (n.778-39T>G) | gnomAD v4 |
| X | g.48688261_48688262del | CA2820813098 | WAS | n.975_976del c.778-39_778-38del (n.778-39_778-38del) | |
| X | g.48688262C= | CA2428355503 | WAS | n.976C= c.778-38C= (n.778-38C=) | |
| X | g.48688262C>T | CA329101922 | WAS | n.976C>T c.778-38C>T (n.778-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688263C>A | CA2693644080 | WAS | n.977C>A c.778-37C>A (n.778-37C>A) | gnomAD v4 |
| X | g.48688265C>A | CA2693644082 | WAS | n.979C>A c.778-35C>A (n.778-35C>A) | gnomAD v4 |
| X | g.48688267A= | CA2428355504 | WAS | n.981A= c.778-33A= (n.778-33A=) | |
| X | g.48688267A>C | CA1132960980 | WAS | n.981A>C c.778-33A>C (n.778-33A>C) | gnomAD v3 gnomAD v4 |
| X | g.48688267A>G | CA2428355505 | WAS | n.981A>G c.778-33A>G (n.778-33A>G) | dbSNP |
| X | g.48688268C= | CA2428355506 | WAS | n.982C= c.778-32C= (n.778-32C=) | |
| X | g.48688268C>G | CA2579600695 | WAS | n.982C>G c.778-32C>G (n.778-32C>G) | |
| X | g.48688268C>T | CA641901823 | WAS | n.982C>T c.778-32C>T (n.778-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688270C>A | CA2693644090 | WAS | n.984C>A c.778-30C>A (n.778-30C>A) | gnomAD v4 |
| X | g.48688270C= | CA2428355507 | WAS | n.984C= c.778-30C= (n.778-30C=) | |
| X | g.48688270C>T | CA10403988 | WAS | n.984C>T c.778-30C>T (n.778-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.48688271C>A | CA2693644091 | WAS | n.985C>A c.778-29C>A (n.778-29C>A) | gnomAD v4 |
| X | g.48688273G>A | CA2428355509 | WAS | n.987G>A c.778-27G>A (n.778-27G>A) | dbSNP gnomAD v4 |
| X | g.48688273G= | CA2428355508 | WAS | n.987G= c.778-27G= (n.778-27G=) | |
| X | g.48688275C= | CA2428355510 | WAS | n.989C= c.778-25C= (n.778-25C=) | |
| X | g.48688275C>T | CA641901824 | WAS | n.989C>T c.778-25C>T (n.778-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688276C>A | CA2693644095 | WAS | n.990C>A c.778-24C>A (n.778-24C>A) | gnomAD v4 |
| X | g.48688277C= | CA2428355511 | WAS | n.991C= c.778-23C= (n.778-23C=) | |
| X | g.48688277C>T | CA2428355512 | WAS | n.991C>T c.778-23C>T (n.778-23C>T) | dbSNP |
| X | g.48688277_48688278delinsCT | CA2428355513 | WAS | n.991_992delinsCT c.778-23_778-22delinsCT (n.778-23_778-22delinsCT) | |
| X | g.48688278del | CA2428355514 | WAS | n.992del c.778-22del (n.778-22del) | dbSNP |
| X | g.48688280dup | CA2579600696 | WAS | n.2dup n.994dup c.778-20dup (n.778-20dup) | gnomAD v4 |
| X | g.48688280G>A | CA2693644097 | WAS | n.2G>A n.994G>A c.778-20G>A (n.778-20G>A) | gnomAD v4 |
| X | g.48688281C>A | CA641901825 | WAS | n.3C>A n.995C>A c.778-19C>A (n.778-19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688281C= | CA2428355515 | WAS | n.3C= n.995C= c.778-19C= (n.778-19C=) | |
| X | g.48688282C>A | CA2693644098 | WAS | n.4C>A n.996C>A c.778-18C>A (n.778-18C>A) | gnomAD v4 |
| X | g.48688282_48688283delinsCT | CA2428355516 | WAS | n.4_5delinsCT n.996_997delinsCT c.778-18_778-17delinsCT (n.778-18_778-17delinsCT) | |
| X | g.48688283T>C | CA2693644101 | WAS | n.5T>C n.997T>C c.778-17T>C (n.778-17T>C) | gnomAD v4 |
| X | g.48688287del | CA641901826 | WAS | n.9del n.1001del c.778-13del (n.778-13del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688286T>C | CA10403989 | WAS | n.8T>C n.1000T>C c.778-14T>C (n.778-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688286T= | CA2428355517 | WAS | n.8T= n.1000T= c.778-14T= (n.778-14T=) | |
| X | g.48688287T>C | CA875916349 | WAS | n.9T>C n.1001T>C c.778-13T>C (n.778-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688287T= | CA2428355518 | WAS | n.9T= n.1001T= c.778-13T= (n.778-13T=) | |
| X | g.48688289C>A | CA2693644107 | WAS | n.11C>A n.1003C>A c.778-11C>A (n.778-11C>A) | gnomAD v4 |
| X | g.48688289C= | CA2428355519 | WAS | n.11C= n.1003C= c.778-11C= (n.778-11C=) | |
| X | g.48688289C>T | CA10403990 | WAS | n.11C>T n.1003C>T c.778-11C>T (n.778-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688290T>A | CA2693644115 | WAS | n.12T>A n.1004T>A c.778-10T>A (n.778-10T>A) | gnomAD v4 |
| X | g.48688292C>A | CA2693644116 | WAS | n.14C>A n.1006C>A c.778-8C>A (n.778-8C>A) | gnomAD v4 |
| X | g.48688292C= | CA2428355520 | WAS | n.14C= n.1006C= c.778-8C= (n.778-8C=) | |
| X | g.48688292C>T | CA875916350 | WAS | n.14C>T n.1006C>T c.778-8C>T (n.778-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688293T>C | CA641901827 | WAS | n.15T>C n.1007T>C c.778-7T>C (n.778-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688293T= | CA2428355521 | WAS | n.15T= n.1007T= c.778-7T= (n.778-7T=) | |
| X | g.48688294G>A | CA658658985 | WAS | n.16G>A n.1008G>A c.778-6G>A (n.778-6G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.48688294G= | CA2428355522 | WAS | n.16G= n.1008G= c.778-6G= (n.778-6G=) | |
| X | g.48688295G>A | CA2693644127 | WAS | n.17G>A n.1009G>A c.778-5G>A (n.778-5G>A) | gnomAD v4 |
| X | g.48688295G>T | CA2693644125 | WAS | n.17G>T n.1009G>T c.778-5G>T (n.778-5G>T) | gnomAD v4 |
| X | g.48688296G>A | CA2693644129 | WAS | n.18G>A n.1010G>A c.778-4G>A (n.778-4G>A) | gnomAD v4 |
| X | g.48688296G>T | CA2693644130 | WAS | n.18G>T n.1010G>T c.778-4G>T (n.778-4G>T) | gnomAD v4 |
| X | g.48688297C>A | CA2693644132 | WAS | n.19C>A n.1011C>A c.778-3C>A (n.778-3C>A) | gnomAD v4 |
| X | g.48688297C>T | CA2693644133 | WAS | n.19C>T n.1011C>T c.778-3C>T (n.778-3C>T) | gnomAD v4 |
| X | g.48688298A>C | CA412872141 | WAS | n.20A>C n.1012A>C c.778-2A>C (n.778-2A>C) | |
| X | g.48688298A>G | CA412872142 | WAS | n.20A>G n.1012A>G c.778-2A>G (n.778-2A>G) | |
| X | g.48688298A>T | CA412872143 | WAS | n.20A>T n.1012A>T c.778-2A>T (n.778-2A>T) | |
| X | g.48688299G>A | CA412872144 | WAS | n.21G>A n.1013G>A c.778-1G>A (n.778-1G>A) | ClinVar dbSNP |
| X | g.48688299G>C | CA412872145 | WAS | n.21G>C n.1013G>C c.778-1G>C (n.778-1G>C) | |
| X | g.48688299G>T | CA412872146 | WAS | n.21G>T n.1013G>T c.778-1G>T (n.778-1G>T) | |
| X | g.48688300G>A | CA412872147 | WAS | n.22G>A n.1014G>A c.778G>A (p.Val260Met) | |
| X | g.48688300G>C | CA412872148 | WAS | n.22G>C n.1014G>C c.778G>C (p.Val260Leu) | |
| X | g.48688300G>T | CA412872149 | WAS | n.22G>T n.1014G>T c.778G>T (p.Val260Leu) | |
| X | g.48688301T>A | CA412872150 | WAS | n.23T>A n.1015T>A c.779T>A (p.Val260Glu) | |
| X | g.48688301T>C | CA412872152 | WAS | n.23T>C n.1015T>C c.779T>C (p.Val260Ala) | dbSNP |
| X | g.48688301T>G | CA412872151 | WAS | n.23T>G n.1015T>G c.779T>G (p.Val260Gly) | |
| X | g.48688302G>A | CA516023610 | WAS | n.24G>A n.1016G>A c.780G>A (p.Val260=) | ClinVar dbSNP gnomAD v4 |
| X | g.48688302G>C | CA516023611 | WAS | n.24G>C n.1016G>C c.780G>C (p.Val260=) | |
| X | g.48688302G>T | CA516023612 | WAS | n.24G>T n.1016G>T c.780G>T (p.Val260=) | gnomAD v4 |
| X | g.48688303A>C | CA412872153 | WAS | n.25A>C n.1017A>C c.781A>C (p.Asn261His) | |
| X | g.48688303A>G | CA412872154 | WAS | n.25A>G n.1017A>G c.781A>G (p.Asn261Asp) | |
| X | g.48688303A>T | CA412872155 | WAS | n.25A>T n.1017A>T c.781A>T (p.Asn261Tyr) | |
| X | g.48688304A>C | CA412872156 | WAS | n.26A>C n.1018A>C c.782A>C (p.Asn261Thr) | |
| X | g.48688304A>G | CA412872157 | WAS | n.26A>G n.1018A>G c.782A>G (p.Asn261Ser) | |
| X | g.48688304A>T | CA412872158 | WAS | n.26A>T n.1018A>T c.782A>T (p.Asn261Ile) | |
| X | g.48688305C>A | CA412872159 | WAS | n.27C>A n.1019C>A c.783C>A (p.Asn261Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688305C= | CA2428355523 | WAS | n.27C= n.1019C= c.783C= (p.Asn261=) | |
| X | g.48688305C>G | CA412872160 | WAS | n.27C>G n.1019C>G c.783C>G (p.Asn261Lys) | |
| X | g.48688305C>T | CA516023613 | WAS | n.27C>T n.1019C>T c.783C>T (p.Asn261=) | gnomAD v4 |