| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688694_48688696del | CA2580617036 | WAS | n.210_212del c.966_968del (p.Gly323del) c.932-122_932-120del (n.932-122_932-120del) | ClinVar |
| X | g.48688692G>A | CA412872763 | WAS | n.208G>A c.964G>A (p.Gly322Arg) c.932-124G>A (n.932-124G>A) | |
| X | g.48688692G>C | CA412872765 | WAS | n.208G>C c.964G>C (p.Gly322Arg) c.932-124G>C (n.932-124G>C) | |
| X | g.48688692G>T | CA412872767 | WAS | n.208G>T c.964G>T (p.Gly322Ter) c.932-124G>T (n.932-124G>T) | ClinVar |
| X | g.48688693G>A | CA412872773 | WAS | n.209G>A c.965G>A (p.Gly322Glu) c.932-123G>A (n.932-123G>A) | |
| X | g.48688693G>C | CA412872771 | WAS | n.209G>C c.965G>C (p.Gly322Ala) c.932-123G>C (n.932-123G>C) | |
| X | g.48688693G>T | CA412872769 | WAS | n.209G>T c.965G>T (p.Gly322Val) c.932-123G>T (n.932-123G>T) | |
| X | g.48688694A= | CA2428355642 | WAS | n.210A= c.966A= (p.Gly322=) c.932-122A= (n.932-122A=) | |
| X | g.48688694A>C | CA516356207 | WAS | n.210A>C c.966A>C (p.Gly322=) c.932-122A>C (n.932-122A>C) | dbSNP gnomAD v4 |
| X | g.48688694A>G | CA516356206 | WAS | n.210A>G c.966A>G (p.Gly322=) c.932-122A>G (n.932-122A>G) | |
| X | g.48688694A>T | CA516356208 | WAS | n.210A>T c.966A>T (p.Gly322=) c.932-122A>T (n.932-122A>T) | |
| X | g.48688695G>A | CA412872774 | WAS | n.211G>A c.967G>A (p.Gly323Arg) c.932-121G>A (n.932-121G>A) | |
| X | g.48688695G>C | CA412872776 | WAS | n.211G>C c.967G>C (p.Gly323Arg) c.932-121G>C (n.932-121G>C) | |
| X | g.48688695G>T | CA412872778 | WAS | n.211G>T c.967G>T (p.Gly323Trp) c.932-121G>T (n.932-121G>T) | |
| X | g.48688697del | CA2740092135 | WAS | n.213del c.969del (p.Asn324ThrfsTer?) c.932-119del (n.932-119del) | ClinVar |
| X | g.48688696G>A | CA412872781 | WAS | n.212G>A c.968G>A (p.Gly323Glu) c.932-120G>A (n.932-120G>A) | |
| X | g.48688696G>C | CA412872783 | WAS | n.212G>C c.968G>C (p.Gly323Ala) c.932-120G>C (n.932-120G>C) | gnomAD v3 gnomAD v4 |
| X | g.48688696G>T | CA412872785 | WAS | n.212G>T c.968G>T (p.Gly323Val) c.932-120G>T (n.932-120G>T) | |
| X | g.48688697G>A | CA516356209 | WAS | n.213G>A c.969G>A (p.Gly323=) c.932-119G>A (n.932-119G>A) | gnomAD v4 |
| X | g.48688697G>C | CA516356210 | WAS | n.213G>C c.969G>C (p.Gly323=) c.932-119G>C (n.932-119G>C) | |
| X | g.48688697G>T | CA516356211 | WAS | n.213G>T c.969G>T (p.Gly323=) c.932-119G>T (n.932-119G>T) | |
| X | g.48688698A>C | CA412872786 | WAS | n.214A>C c.970A>C (p.Asn324His) c.932-118A>C (n.932-118A>C) | |
| X | g.48688698A>G | CA412872788 | WAS | n.214A>G c.970A>G (p.Asn324Asp) c.932-118A>G (n.932-118A>G) | |
| X | g.48688698A>T | CA412872789 | WAS | n.214A>T c.970A>T (p.Asn324Tyr) c.932-118A>T (n.932-118A>T) | |
| X | g.48688699A>C | CA412872791 | WAS | n.215A>C c.971A>C (p.Asn324Thr) c.932-117A>C (n.932-117A>C) | gnomAD v3 gnomAD v4 |
| X | g.48688699A>G | CA412872793 | WAS | n.215A>G c.971A>G (p.Asn324Ser) c.932-117A>G (n.932-117A>G) | |
| X | g.48688699A>T | CA412872795 | WAS | n.215A>T c.971A>T (p.Asn324Ile) c.932-117A>T (n.932-117A>T) | |
| X | g.48688700C>A | CA412872800 | WAS | n.216C>A c.972C>A (p.Asn324Lys) c.932-116C>A (n.932-116C>A) | gnomAD v4 |
| X | g.48688700C>G | CA412872798 | WAS | n.216C>G c.972C>G (p.Asn324Lys) c.932-116C>G (n.932-116C>G) | |
| X | g.48688700C>T | CA516356212 | WAS | n.216C>T c.972C>T (p.Asn324=) c.932-116C>T (n.932-116C>T) | |
| X | g.48688701C>A | CA412872801 | WAS | n.217C>A c.973C>A (p.Gln325Lys) c.932-115C>A (n.932-115C>A) | gnomAD v4 |
| X | g.48688701C>G | CA412872805 | WAS | n.217C>G c.973C>G (p.Gln325Glu) c.932-115C>G (n.932-115C>G) | |
| X | g.48688701C>T | CA412872803 | WAS | n.217C>T c.973C>T (p.Gln325Ter) c.932-115C>T (n.932-115C>T) | gnomAD v4 |
| X | g.48688702A= | CA2428355643 | WAS | n.218A= c.974A= (p.Gln325=) c.932-114A= (n.932-114A=) | |
| X | g.48688702A>C | CA412872807 | WAS | n.218A>C c.974A>C (p.Gln325Pro) c.932-114A>C (n.932-114A>C) | |
| X | g.48688702A>G | CA412872808 | WAS | n.218A>G c.974A>G (p.Gln325Arg) c.932-114A>G (n.932-114A>G) | gnomAD v4 |
| X | g.48688702A>T | CA412872810 | WAS | n.218A>T c.974A>T (p.Gln325Leu) c.932-114A>T (n.932-114A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688703G>A | CA516356213 | WAS | n.219G>A c.975G>A (p.Gln325=) c.932-113G>A (n.932-113G>A) | |
| X | g.48688703G>C | CA16622100 | WAS | n.219G>C c.975G>C (p.Gln325His) c.932-113G>C (n.932-113G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688703G= | CA2428355644 | WAS | n.219G= c.975G= (p.Gln325=) c.932-113G= (n.932-113G=) | |
| X | g.48688703G>T | CA412872813 | WAS | n.219G>T c.975G>T (p.Gln325His) c.932-113G>T (n.932-113G>T) | |
| X | g.48688704del | CA2695234065 | WAS | n.220del c.976del (p.Leu326SerfsTer?) c.932-112del (n.932-112del) | |
| X | g.48688704C>A | CA412872815 | WAS | n.220C>A c.976C>A (p.Leu326Ile) c.932-112C>A (n.932-112C>A) | |
| X | g.48688704C>G | CA412872817 | WAS | n.220C>G c.976C>G (p.Leu326Val) c.932-112C>G (n.932-112C>G) | |
| X | g.48688704C>T | CA412872819 | WAS | n.220C>T c.976C>T (p.Leu326Phe) c.932-112C>T (n.932-112C>T) | gnomAD v4 |
| X | g.48688705T>A | CA412872821 | WAS | n.221T>A c.977T>A (p.Leu326His) c.932-111T>A (n.932-111T>A) | |
| X | g.48688705T>C | CA412872823 | WAS | n.221T>C c.977T>C (p.Leu326Pro) c.932-111T>C (n.932-111T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688705T>G | CA412872824 | WAS | n.221T>G c.977T>G (p.Leu326Arg) c.932-111T>G (n.932-111T>G) | |
| X | g.48688705T= | CA2428355645 | WAS | n.221T= c.977T= (p.Leu326=) c.932-111T= (n.932-111T=) | |
| X | g.48688706C>A | CA516356214 | WAS | n.222C>A c.978C>A (p.Leu326=) c.932-110C>A (n.932-110C>A) | gnomAD v4 |
| X | g.48688706C>G | CA516356215 | WAS | n.222C>G c.978C>G (p.Leu326=) c.932-110C>G (n.932-110C>G) | |
| X | g.48688706C>T | CA516356216 | WAS | n.222C>T c.978C>T (p.Leu326=) c.932-110C>T (n.932-110C>T) | |
| X | g.48688710dup | CA2695234066 | WAS | n.226dup c.982dup (p.Arg328ProfsTer8) c.932-106dup (n.932-106dup) | |
| X | g.48688710del | CA2547117441 | WAS | n.226del c.982del (p.Arg328GlyfsTer?) c.932-106del (n.932-106del) | gnomAD v4 |
| X | g.48688709_48688710del | CA2693644487 | WAS | n.225_226del c.981_982del (p.Arg328AlafsTer7) c.932-107_932-106del (n.932-107_932-106del) | gnomAD v4 |
| X | g.48688707C>A | CA412872830 | WAS | n.223C>A c.979C>A (p.Pro327Thr) c.932-109C>A (n.932-109C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688707C= | CA2428355646 | WAS | n.223C= c.979C= (p.Pro327=) c.932-109C= (n.932-109C=) | |
| X | g.48688707C>G | CA412872827 | WAS | n.223C>G c.979C>G (p.Pro327Ala) c.932-109C>G (n.932-109C>G) | |
| X | g.48688707C>T | CA412872828 | WAS | n.223C>T c.979C>T (p.Pro327Ser) c.932-109C>T (n.932-109C>T) | gnomAD v4 |
| X | g.48688708C>A | CA412872831 | WAS | n.224C>A c.980C>A (p.Pro327His) c.932-108C>A (n.932-108C>A) | |
| X | g.48688708C>G | CA412872833 | WAS | n.224C>G c.980C>G (p.Pro327Arg) c.932-108C>G (n.932-108C>G) | |
| X | g.48688708C>T | CA412872835 | WAS | n.224C>T c.980C>T (p.Pro327Leu) c.932-108C>T (n.932-108C>T) | |
| X | g.48688709C>A | CA516356217 | WAS | n.225C>A c.981C>A (p.Pro327=) c.932-107C>A (n.932-107C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688709C= | CA2428355647 | WAS | n.225C= c.981C= (p.Pro327=) c.932-107C= (n.932-107C=) | |
| X | g.48688709C>G | CA516356218 | WAS | n.225C>G c.981C>G (p.Pro327=) c.932-107C>G (n.932-107C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688709C>T | CA516356219 | WAS | n.225C>T c.981C>T (p.Pro327=) c.932-107C>T (n.932-107C>T) | gnomAD v4 |
| X | g.48688710C>A | CA516356220 | WAS | n.226C>A c.982C>A (p.Arg328=) c.932-106C>A (n.932-106C>A) | gnomAD v4 |
| X | g.48688710C= | CA2428355648 | WAS | n.226C= c.982C= (p.Arg328=) c.932-106C= (n.932-106C=) | |
| X | g.48688710C>G | CA412872837 | WAS | n.226C>G c.982C>G (p.Arg328Gly) c.932-106C>G (n.932-106C>G) | |
| X | g.48688710C>T | CA412872839 | WAS | n.226C>T c.982C>T (p.Arg328Trp) c.932-106C>T (n.932-106C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688711G>A | CA10404023 | WAS | n.227G>A c.983G>A (p.Arg328Gln) c.932-105G>A (n.932-105G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688711G>C | CA412872841 | WAS | n.227G>C c.983G>C (p.Arg328Pro) c.932-105G>C (n.932-105G>C) | |
| X | g.48688711G= | CA2428355649 | WAS | n.227G= c.983G= (p.Arg328=) c.932-105G= (n.932-105G=) | |
| X | g.48688711G>T | CA412872843 | WAS | n.227G>T c.983G>T (p.Arg328Leu) c.932-105G>T (n.932-105G>T) | gnomAD v4 |
| X | g.48688712del | CA2695234067 | WAS | n.228del c.984del (p.Pro330LeufsTer?) c.932-104del (n.932-104del) | |
| X | g.48688712G>A | CA516356221 | WAS | n.228G>A c.984G>A (p.Arg328=) c.932-104G>A (n.932-104G>A) | gnomAD v4 |
| X | g.48688712G>C | CA516356222 | WAS | n.228G>C c.984G>C (p.Arg328=) c.932-104G>C (n.932-104G>C) | gnomAD v4 |
| X | g.48688712G>T | CA516356223 | WAS | n.228G>T c.984G>T (p.Arg328=) c.932-104G>T (n.932-104G>T) | |
| X | g.48688713C>A | CA412872845 | WAS | n.229C>A c.985C>A (p.Pro329Thr) c.932-103C>A (n.932-103C>A) | gnomAD v4 |
| X | g.48688713C= | CA2428355650 | WAS | n.229C= c.985C= (p.Pro329=) c.932-103C= (n.932-103C=) | |
| X | g.48688713C>G | CA412872847 | WAS | n.229C>G c.985C>G (p.Pro329Ala) c.932-103C>G (n.932-103C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688713C>T | CA412872849 | WAS | n.229C>T c.985C>T (p.Pro329Ser) c.932-103C>T (n.932-103C>T) | |
| X | g.48688717del | CA645619091 | WAS | n.233del c.989del (p.Pro330LeufsTer?) c.932-99del (n.932-99del) | gnomAD v4 COSMIC |
| X | g.48688714C>A | CA412872853 | WAS | n.230C>A c.986C>A (p.Pro329His) c.932-102C>A (n.932-102C>A) | |
| X | g.48688714C>G | CA412872855 | WAS | n.230C>G c.986C>G (p.Pro329Arg) c.932-102C>G (n.932-102C>G) | |
| X | g.48688714C>T | CA412872851 | WAS | n.230C>T c.986C>T (p.Pro329Leu) c.932-102C>T (n.932-102C>T) | |
| X | g.48688715C>A | CA516356225 | WAS | n.231C>A c.987C>A (p.Pro329=) c.932-101C>A (n.932-101C>A) | gnomAD v4 |
| X | g.48688715C= | CA2428355651 | WAS | n.231C= c.987C= (p.Pro329=) c.932-101C= (n.932-101C=) | |
| X | g.48688715C>G | CA516356226 | WAS | n.231C>G c.987C>G (p.Pro329=) c.932-101C>G (n.932-101C>G) | |
| X | g.48688715C>T | CA516356224 | WAS | n.231C>T c.987C>T (p.Pro329=) c.932-101C>T (n.932-101C>T) | ClinVar dbSNP |
| X | g.48688716C>A | CA412872858 | WAS | n.232C>A c.988C>A (p.Pro330Thr) c.932-100C>A (n.932-100C>A) | |
| X | g.48688716C>G | CA412872860 | WAS | n.232C>G c.988C>G (p.Pro330Ala) c.932-100C>G (n.932-100C>G) | |
| X | g.48688716C>T | CA412872861 | WAS | n.232C>T c.988C>T (p.Pro330Ser) c.932-100C>T (n.932-100C>T) | gnomAD v4 |
| X | g.48688717C>A | CA412872864 | WAS | n.233C>A c.989C>A (p.Pro330His) c.932-99C>A (n.932-99C>A) | gnomAD v4 |
| X | g.48688717C= | CA2428355652 | WAS | n.233C= c.989C= (p.Pro330=) c.932-99C= (n.932-99C=) | |
| X | g.48688717C>G | CA412872865 | WAS | n.233C>G c.989C>G (p.Pro330Arg) c.932-99C>G (n.932-99C>G) | |
| X | g.48688717C>T | CA16622101 | WAS | n.233C>T c.989C>T (p.Pro330Leu) c.932-99C>T (n.932-99C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688718del | CA2573055337 | WAS | n.234del c.990del (p.Ile331LeufsTer?) c.932-98del (n.932-98del) | ClinVar dbSNP |
| X | g.48688718T>A | CA516356229 | WAS | n.234T>A c.990T>A (p.Pro330=) c.932-98T>A (n.932-98T>A) | |
| X | g.48688718T>C | CA516356228 | WAS | n.234T>C c.990T>C (p.Pro330=) c.932-98T>C (n.932-98T>C) | |
| X | g.48688718T>G | CA516356227 | WAS | n.234T>G c.990T>G (p.Pro330=) c.932-98T>G (n.932-98T>G) | |
| X | g.48688719A>C | CA412872868 | WAS | n.235A>C c.991A>C (p.Ile331Leu) c.932-97A>C (n.932-97A>C) | |
| X | g.48688719A>G | CA412872870 | WAS | n.235A>G c.991A>G (p.Ile331Val) c.932-97A>G (n.932-97A>G) | gnomAD v4 |
| X | g.48688719A>T | CA412872872 | WAS | n.235A>T c.991A>T (p.Ile331Phe) c.932-97A>T (n.932-97A>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48688719dup | CA2695234068 | WAS | n.235dup c.991dup (p.Ile331AsnfsTer5) c.932-97dup (n.932-97dup) | |
| X | g.48688720T>A | CA412872874 | WAS | n.236T>A c.992T>A (p.Ile331Asn) c.932-96T>A (n.932-96T>A) | |
| X | g.48688720T>C | CA412872876 | WAS | n.236T>C c.992T>C (p.Ile331Thr) c.932-96T>C (n.932-96T>C) | ClinVar gnomAD v4 |
| X | g.48688720T>G | CA412872878 | WAS | n.236T>G c.992T>G (p.Ile331Ser) c.932-96T>G (n.932-96T>G) | |
| X | g.48688721T>A | CA516356230 | WAS | n.237T>A c.993T>A (p.Ile331=) c.932-95T>A (n.932-95T>A) | |
| X | g.48688721T>C | CA516356232 | WAS | n.237T>C c.993T>C (p.Ile331=) c.932-95T>C (n.932-95T>C) | |
| X | g.48688721T>G | CA412872880 | WAS | n.237T>G c.993T>G (p.Ile331Met) c.932-95T>G (n.932-95T>G) | ClinVar dbSNP gnomAD v4 |
| X | g.48688721T= | CA2428355653 | WAS | n.237T= c.993T= (p.Ile331=) c.932-95T= (n.932-95T=) | |
| X | g.48688722del | CA2695233755 | WAS | n.238del c.994del (p.Val332TrpfsTer?) c.932-94del (n.932-94del) | |
| X | g.48688722G>A | CA412872886 | WAS | n.238G>A c.994G>A (p.Val332Met) c.932-94G>A (n.932-94G>A) | |
| X | g.48688722G>C | CA412872884 | WAS | n.238G>C c.994G>C (p.Val332Leu) c.932-94G>C (n.932-94G>C) | |
| X | g.48688722G>T | CA412872882 | WAS | n.238G>T c.994G>T (p.Val332Leu) c.932-94G>T (n.932-94G>T) | |
| X | g.48688723T>A | CA412872888 | WAS | n.239T>A c.995T>A (p.Val332Glu) c.932-93T>A (n.932-93T>A) | |
| X | g.48688723T>C | CA162675 | WAS | n.239T>C c.995T>C (p.Val332Ala) c.932-93T>C (n.932-93T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688723T>G | CA412872891 | WAS | n.239T>G c.995T>G (p.Val332Gly) c.932-93T>G (n.932-93T>G) | |
| X | g.48688723T= | CA2428355655 | WAS | n.239T= c.995T= (p.Val332=) c.932-93T= (n.932-93T=) | |
| X | g.48688723dup | CA2695233756 | WAS | n.239dup c.995dup (p.Asn335Ter) c.932-93dup (n.932-93dup) | |
| X | g.48688723_48688724delinsTG | CA2428355654 | WAS | n.239_240delinsTG c.995_996delinsTG (p.Val332=) c.932-93_932-92delinsTG (n.932-93_932-92delinsTG) | |
| X | g.48688724G>A | CA10404026 | WAS | n.240G>A c.996G>A (p.Val332=) c.932-92G>A (n.932-92G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688724G>C | CA10404025 | WAS | n.240G>C c.996G>C (p.Val332=) c.932-92G>C (n.932-92G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688724G= | CA2428355656 | WAS | n.240G= c.996G= (p.Val332=) c.932-92G= (n.932-92G=) | |
| X | g.48688724G>T | CA10404024 | WAS | n.240G>T c.996G>T (p.Val332=) c.932-92G>T (n.932-92G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688724_48688725delinsCT | CA645619092 | WAS | n.240_241delinsCT c.996_997delinsCT (p.Gly333Trp) c.932-92_932-91delinsCT (n.932-92_932-91delinsCT) | COSMIC |
| X | g.48688729dup | CA1139667531 | WAS | n.245dup c.1001dup (p.Asn335Ter) c.932-87dup (n.932-87dup) | ClinVar dbSNP |
| X | g.48688729del | CA891844002 | WAS | n.245del c.1001del (p.Gly334ValfsTer?) c.932-87del (n.932-87del) | ClinVar dbSNP gnomAD v4 |
| X | g.48688725_48688738del | CA645619093 | WAS | n.241_254del c.997_1010del (p.Gly333SerfsTer?) c.932-91_932-78del (n.932-91_932-78del) | COSMIC |
| X | g.48688725G>A | CA412872897 | WAS | n.241G>A c.997G>A (p.Gly333Arg) c.932-91G>A (n.932-91G>A) | gnomAD v4 |
| X | g.48688725G>C | CA412872899 | WAS | n.241G>C c.997G>C (p.Gly333Arg) c.932-91G>C (n.932-91G>C) | |
| X | g.48688725G>T | CA412872905 | WAS | n.241G>T c.997G>T (p.Gly333Trp) c.932-91G>T (n.932-91G>T) | |
| X | g.48688726G>A | CA412872908 | WAS | n.242G>A c.998G>A (p.Gly333Glu) c.932-90G>A (n.932-90G>A) | |
| X | g.48688726G>C | CA10404027 | WAS | n.242G>C c.998G>C (p.Gly333Ala) c.932-90G>C (n.932-90G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688726G= | CA2428355657 | WAS | n.242G= c.998G= (p.Gly333=) c.932-90G= (n.932-90G=) | |
| X | g.48688726G>T | CA412872910 | WAS | n.242G>T c.998G>T (p.Gly333Val) c.932-90G>T (n.932-90G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688727G>A | CA10404028 | WAS | n.243G>A c.999G>A (p.Gly333=) c.932-89G>A (n.932-89G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688727G>C | CA516356237 | WAS | n.243G>C c.999G>C (p.Gly333=) c.932-89G>C (n.932-89G>C) | ClinVar dbSNP gnomAD v4 |
| X | g.48688727G= | CA2428355658 | WAS | n.243G= c.999G= (p.Gly333=) c.932-89G= (n.932-89G=) | |
| X | g.48688727G>T | CA516356239 | WAS | n.243G>T c.999G>T (p.Gly333=) c.932-89G>T (n.932-89G>T) | |
| X | g.48688728G>A | CA412872916 | WAS | n.244G>A c.1000G>A (p.Gly334Ser) c.932-88G>A (n.932-88G>A) | |
| X | g.48688728G>C | CA412872915 | WAS | n.244G>C c.1000G>C (p.Gly334Arg) c.932-88G>C (n.932-88G>C) | |
| X | g.48688728G>T | CA412872913 | WAS | n.244G>T c.1000G>T (p.Gly334Cys) c.932-88G>T (n.932-88G>T) | gnomAD v4 |
| X | g.48688729G>A | CA10404029 | WAS | n.245G>A c.1001G>A (p.Gly334Asp) c.932-87G>A (n.932-87G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688729G>C | CA412872922 | WAS | n.245G>C c.1001G>C (p.Gly334Ala) c.932-87G>C (n.932-87G>C) | |
| X | g.48688729G= | CA2428355659 | WAS | n.245G= c.1001G= (p.Gly334=) c.932-87G= (n.932-87G=) | |
| X | g.48688729G>T | CA412872920 | WAS | n.245G>T c.1001G>T (p.Gly334Val) c.932-87G>T (n.932-87G>T) | |
| X | g.48688730T>A | CA516356243 | WAS | n.246T>A c.1002T>A (p.Gly334=) c.932-86T>A (n.932-86T>A) | |
| X | g.48688730T>C | CA516356245 | WAS | n.246T>C c.1002T>C (p.Gly334=) c.932-86T>C (n.932-86T>C) | |
| X | g.48688730T>G | CA516356247 | WAS | n.246T>G c.1002T>G (p.Gly334=) c.932-86T>G (n.932-86T>G) | gnomAD v3 gnomAD v4 |
| X | g.48688731A>C | CA412872924 | WAS | n.247A>C c.1003A>C (p.Asn335His) c.932-85A>C (n.932-85A>C) | |
| X | g.48688731A>G | CA412872928 | WAS | n.247A>G c.1003A>G (p.Asn335Asp) c.932-85A>G (n.932-85A>G) | |
| X | g.48688731A>T | CA412872926 | WAS | n.247A>T c.1003A>T (p.Asn335Tyr) c.932-85A>T (n.932-85A>T) | |
| X | g.48688732A>C | CA412872930 | WAS | n.248A>C c.1004A>C (p.Asn335Thr) c.932-84A>C (n.932-84A>C) | |
| X | g.48688732A>G | CA412872934 | WAS | n.248A>G c.1004A>G (p.Asn335Ser) c.932-84A>G (n.932-84A>G) | |
| X | g.48688732A>T | CA412872932 | WAS | n.248A>T c.1004A>T (p.Asn335Ile) c.932-84A>T (n.932-84A>T) | |
| X | g.48688733C>A | CA412872936 | WAS | n.249C>A c.1005C>A (p.Asn335Lys) c.932-83C>A (n.932-83C>A) | gnomAD v4 |
| X | g.48688733C>G | CA412872938 | WAS | n.249C>G c.1005C>G (p.Asn335Lys) c.932-83C>G (n.932-83C>G) | |
| X | g.48688733C>T | CA516356251 | WAS | n.249C>T c.1005C>T (p.Asn335=) c.932-83C>T (n.932-83C>T) | |
| X | g.48688734A>C | CA412872940 | WAS | n.250A>C c.1006A>C (p.Lys336Gln) c.932-82A>C (n.932-82A>C) | |
| X | g.48688734A>G | CA412872942 | WAS | n.250A>G c.1006A>G (p.Lys336Glu) c.932-82A>G (n.932-82A>G) | |
| X | g.48688734A>T | CA412872944 | WAS | n.250A>T c.1006A>T (p.Lys336Ter) c.932-82A>T (n.932-82A>T) | |
| X | g.48688734_48688735del | CA2695233758 | WAS | n.250_251del c.1006_1007del (p.Lys336GlyfsTer?) c.932-82_932-81del (n.932-82_932-81del) | |
| X | g.48688735del | CA2695233757 | WAS | n.251del c.1007del (p.Lys336ArgfsTer?) c.932-81del (n.932-81del) | |
| X | g.48688735A>C | CA412872946 | WAS | n.251A>C c.1007A>C (p.Lys336Thr) c.932-81A>C (n.932-81A>C) | |
| X | g.48688735A>G | CA412872949 | WAS | n.251A>G c.1007A>G (p.Lys336Arg) c.932-81A>G (n.932-81A>G) | |
| X | g.48688735A>T | CA412872950 | WAS | n.251A>T c.1007A>T (p.Lys336Met) c.932-81A>T (n.932-81A>T) | |
| X | g.48688736G>A | CA516356255 | WAS | n.252G>A c.1008G>A (p.Lys336=) c.932-80G>A (n.932-80G>A) | |
| X | g.48688736G>C | CA412872953 | WAS | n.252G>C c.1008G>C (p.Lys336Asn) c.932-80G>C (n.932-80G>C) | |
| X | g.48688736G>T | CA412872955 | WAS | n.252G>T c.1008G>T (p.Lys336Asn) c.932-80G>T (n.932-80G>T) | |
| X | g.48688737G>A | CA412872957 | WAS | n.253G>A c.1009G>A (p.Gly337Ser) c.932-79G>A (n.932-79G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688737G>C | CA412872959 | WAS | n.253G>C c.1009G>C (p.Gly337Arg) c.932-79G>C (n.932-79G>C) | |
| X | g.48688737G= | CA2428355660 | WAS | n.253G= c.1009G= (p.Gly337=) c.932-79G= (n.932-79G=) | |
| X | g.48688737G>T | CA412872961 | WAS | n.253G>T c.1009G>T (p.Gly337Cys) c.932-79G>T (n.932-79G>T) | |
| X | g.48688738G>A | CA412872968 | WAS | n.254G>A c.1010G>A (p.Gly337Asp) c.932-78G>A (n.932-78G>A) | |
| X | g.48688738G>C | CA412872966 | WAS | n.254G>C c.1010G>C (p.Gly337Ala) c.932-78G>C (n.932-78G>C) | |
| X | g.48688738G>T | CA412872963 | WAS | n.254G>T c.1010G>T (p.Gly337Val) c.932-78G>T (n.932-78G>T) | |
| X | g.48688739T>A | CA516356259 | WAS | n.255T>A c.1011T>A (p.Gly337=) c.932-77T>A (n.932-77T>A) | |
| X | g.48688739T>C | CA516356260 | WAS | n.255T>C c.1011T>C (p.Gly337=) c.932-77T>C (n.932-77T>C) | |
| X | g.48688739T>G | CA516356261 | WAS | n.255T>G c.1011T>G (p.Gly337=) c.932-77T>G (n.932-77T>G) | |
| X | g.48688740C>A | CA412872970 | WAS | n.256C>A c.1012C>A (p.Arg338Ser) c.932-76C>A (n.932-76C>A) | |
| X | g.48688740C>G | CA412872972 | WAS | n.256C>G c.1012C>G (p.Arg338Gly) c.932-76C>G (n.932-76C>G) | |
| X | g.48688740C>T | CA412872974 | WAS | n.256C>T c.1012C>T (p.Arg338Cys) c.932-76C>T (n.932-76C>T) | gnomAD v4 COSMIC |
| X | g.48688741G>A | CA10404030 | WAS | n.257G>A c.1013G>A (p.Arg338His) c.932-75G>A (n.932-75G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688741G>C | CA412872976 | WAS | n.257G>C c.1013G>C (p.Arg338Pro) c.932-75G>C (n.932-75G>C) | gnomAD v4 |
| X | g.48688741G= | CA2428355661 | WAS | n.257G= c.1013G= (p.Arg338=) c.932-75G= (n.932-75G=) | |
| X | g.48688741G>T | CA412872978 | WAS | n.257G>T c.1013G>T (p.Arg338Leu) c.932-75G>T (n.932-75G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688741_48688742del | CA2695233759 | WAS | n.257_258del c.1013_1014del (p.Arg338LeufsTer?) c.932-75_932-74del (n.932-75_932-74del) | |
| X | g.48688742T>A | CA516356265 | WAS | n.258T>A c.1014T>A (p.Arg338=) c.932-74T>A (n.932-74T>A) | |
| X | g.48688742T>C | CA516356266 | WAS | n.258T>C c.1014T>C (p.Arg338=) c.932-74T>C (n.932-74T>C) | |
| X | g.48688742T>G | CA516356268 | WAS | n.258T>G c.1014T>G (p.Arg338=) c.932-74T>G (n.932-74T>G) | |
| X | g.48688743T>A | CA412872980 | WAS | n.259T>A c.1015T>A (p.Ser339Thr) c.932-73T>A (n.932-73T>A) | |
| X | g.48688743T>C | CA412872982 | WAS | n.259T>C c.1015T>C (p.Ser339Pro) c.932-73T>C (n.932-73T>C) | |
| X | g.48688743T>G | CA412872984 | WAS | n.259T>G c.1015T>G (p.Ser339Ala) c.932-73T>G (n.932-73T>G) | |
| X | g.48688744C>A | CA412872986 | WAS | n.260C>A c.1016C>A (p.Ser339Tyr) c.932-72C>A (n.932-72C>A) | gnomAD v4 |
| X | g.48688744C>G | CA412872988 | WAS | n.260C>G c.1016C>G (p.Ser339Cys) c.932-72C>G (n.932-72C>G) | |
| X | g.48688744C>T | CA412872990 | WAS | n.260C>T c.1016C>T (p.Ser339Phe) c.932-72C>T (n.932-72C>T) | |
| X | g.48688745del | CA2695233760 | WAS | n.261del c.1017del (p.Gly340ValfsTer?) c.932-71del (n.932-71del) | |
| X | g.48688745T>A | CA516356272 | WAS | n.261T>A c.1017T>A (p.Ser339=) c.932-71T>A (n.932-71T>A) | |
| X | g.48688745T>C | CA516356273 | WAS | n.261T>C c.1017T>C (p.Ser339=) c.932-71T>C (n.932-71T>C) | |
| X | g.48688745T>G | CA516356274 | WAS | n.261T>G c.1017T>G (p.Ser339=) c.932-71T>G (n.932-71T>G) | |
| X | g.48688746G>A | CA412872997 | WAS | n.262G>A c.1018G>A (p.Gly340Ser) c.932-70G>A (n.932-70G>A) | |
| X | g.48688746G>C | CA412872995 | WAS | n.262G>C c.1018G>C (p.Gly340Arg) c.932-70G>C (n.932-70G>C) | |
| X | g.48688746G>T | CA412872993 | WAS | n.262G>T c.1018G>T (p.Gly340Cys) c.932-70G>T (n.932-70G>T) | gnomAD v4 |
| X | g.48688747dup | CA2695233761 | WAS | n.263dup c.1019dup (p.Pro341SerfsTer?) c.932-69dup (n.932-69dup) | |
| X | g.48688747G>A | CA412873003 | WAS | n.263G>A c.1019G>A (p.Gly340Asp) c.932-69G>A (n.932-69G>A) | |
| X | g.48688747G>C | CA412872999 | WAS | n.263G>C c.1019G>C (p.Gly340Ala) c.932-69G>C (n.932-69G>C) | |
| X | g.48688747G>T | CA412873001 | WAS | n.263G>T c.1019G>T (p.Gly340Val) c.932-69G>T (n.932-69G>T) | |
| X | g.48688748T>A | CA516356278 | WAS | n.264T>A c.1020T>A (p.Gly340=) c.932-68T>A (n.932-68T>A) | |
| X | g.48688748T>C | CA516356280 | WAS | n.264T>C c.1020T>C (p.Gly340=) c.932-68T>C (n.932-68T>C) | |
| X | g.48688748T>G | CA516356279 | WAS | n.264T>G c.1020T>G (p.Gly340=) c.932-68T>G (n.932-68T>G) | |
| X | g.48688748dup | CA2695233762 | WAS | n.264dup c.1020dup (p.Pro341SerfsTer?) c.932-68dup (n.932-68dup) | |
| X | g.48688749C>A | CA412873005 | WAS | n.265C>A c.1021C>A (p.Pro341Thr) c.932-67C>A (n.932-67C>A) | gnomAD v4 |
| X | g.48688749C>G | CA412873007 | WAS | n.265C>G c.1021C>G (p.Pro341Ala) c.932-67C>G (n.932-67C>G) | |
| X | g.48688749C>T | CA412873009 | WAS | n.265C>T c.1021C>T (p.Pro341Ser) c.932-67C>T (n.932-67C>T) | |
| X | g.48688750dup | CA2695233763 | WAS | n.266dup c.1022dup (p.Leu342ThrfsTer?) c.932-66dup (n.932-66dup) | |
| X | g.48688749_48688750insT | CA2573158941 | WAS | n.265_266insT c.1021_1022insT (p.Pro341LeufsTer?) c.932-67_932-66insT (n.932-67_932-66insT) | ClinVar dbSNP |
| X | g.48688750C>A | CA412873011 | WAS | n.266C>A c.1022C>A (p.Pro341Gln) c.932-66C>A (n.932-66C>A) | gnomAD v4 |
| X | g.48688750C= | CA2428355662 | WAS | n.266C= c.1022C= (p.Pro341=) c.932-66C= (n.932-66C=) | |
| X | g.48688750C>G | CA412873014 | WAS | n.266C>G c.1022C>G (p.Pro341Arg) c.932-66C>G (n.932-66C>G) | |
| X | g.48688750C>T | CA10404031 | WAS | n.266C>T c.1022C>T (p.Pro341Leu) c.932-66C>T (n.932-66C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688751_48688752del | CA2695233764 | WAS | n.267_268del c.1023_1024del (p.Leu342AlafsTer?) c.932-65_932-64del (n.932-65_932-64del) | |
| X | g.48688751A>C | CA516356284 | WAS | n.267A>C c.1023A>C (p.Pro341=) c.932-65A>C (n.932-65A>C) | |
| X | g.48688751A>G | CA516356285 | WAS | n.267A>G c.1023A>G (p.Pro341=) c.932-65A>G (n.932-65A>G) | |
| X | g.48688751A>T | CA516356286 | WAS | n.267A>T c.1023A>T (p.Pro341=) c.932-65A>T (n.932-65A>T) | |
| X | g.48688752C>A | CA412873017 | WAS | n.268C>A c.1024C>A (p.Leu342Met) c.932-64C>A (n.932-64C>A) | |
| X | g.48688752C>G | CA412873018 | WAS | n.268C>G c.1024C>G (p.Leu342Val) c.932-64C>G (n.932-64C>G) | |
| X | g.48688752C>T | CA516356287 | WAS | n.268C>T c.1024C>T (p.Leu342=) c.932-64C>T (n.932-64C>T) | |
| X | g.48688753T>A | CA412873020 | WAS | n.269T>A c.1025T>A (p.Leu342Gln) c.932-63T>A (n.932-63T>A) | |
| X | g.48688753T>C | CA412873021 | WAS | n.269T>C c.1025T>C (p.Leu342Pro) c.932-63T>C (n.932-63T>C) | |
| X | g.48688753T>G | CA412873023 | WAS | n.269T>G c.1025T>G (p.Leu342Arg) c.932-63T>G (n.932-63T>G) | |
| X | g.48688754G>A | CA516356291 | WAS | n.270G>A c.1026G>A (p.Leu342=) c.932-62G>A (n.932-62G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.48688754G>C | CA516356292 | WAS | n.270G>C c.1026G>C (p.Leu342=) c.932-62G>C (n.932-62G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688754G= | CA2428355663 | WAS | n.270G= c.1026G= (p.Leu342=) c.932-62G= (n.932-62G=) | |
| X | g.48688754G>T | CA516356293 | WAS | n.270G>T c.1026G>T (p.Leu342=) c.932-62G>T (n.932-62G>T) | |
| X | g.48688755C>A | CA412873030 | WAS | n.271C>A c.1027C>A (p.Pro343Thr) c.932-61C>A (n.932-61C>A) | gnomAD v4 |
| X | g.48688755C>G | CA412873026 | WAS | n.271C>G c.1027C>G (p.Pro343Ala) c.932-61C>G (n.932-61C>G) | |
| X | g.48688755C>T | CA412873028 | WAS | n.271C>T c.1027C>T (p.Pro343Ser) c.932-61C>T (n.932-61C>T) | |
| X | g.48688759del | CA2579600717 | WAS | n.275del c.1031del (p.Pro344LeufsTer?) c.932-57del (n.932-57del) | |
| X | g.48688756C>A | CA412873032 | WAS | n.272C>A c.1028C>A (p.Pro343His) c.932-60C>A (n.932-60C>A) | gnomAD v4 |
| X | g.48688756C>G | CA412873034 | WAS | n.272C>G c.1028C>G (p.Pro343Arg) c.932-60C>G (n.932-60C>G) | |
| X | g.48688756C>T | CA412873036 | WAS | n.272C>T c.1028C>T (p.Pro343Leu) c.932-60C>T (n.932-60C>T) | ClinVar gnomAD v4 |
| X | g.48688757C>A | CA516356296 | WAS | n.273C>A c.1029C>A (p.Pro343=) c.932-59C>A (n.932-59C>A) | |
| X | g.48688757C= | CA2428355664 | WAS | n.273C= c.1029C= (p.Pro343=) c.932-59C= (n.932-59C=) | |
| X | g.48688757C>G | CA516356297 | WAS | n.273C>G c.1029C>G (p.Pro343=) c.932-59C>G (n.932-59C>G) | |
| X | g.48688757C>T | CA516356298 | WAS | n.273C>T c.1029C>T (p.Pro343=) c.932-59C>T (n.932-59C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688758C>A | CA412873038 | WAS | n.274C>A c.1030C>A (p.Pro344Thr) c.932-58C>A (n.932-58C>A) | |
| X | g.48688758C>G | CA412873040 | WAS | n.274C>G c.1030C>G (p.Pro344Ala) c.932-58C>G (n.932-58C>G) | gnomAD v4 |
| X | g.48688758C>T | CA412873042 | WAS | n.274C>T c.1030C>T (p.Pro344Ser) c.932-58C>T (n.932-58C>T) | |
| X | g.48688759C>A | CA412873044 | WAS | n.275C>A c.1031C>A (p.Pro344His) c.932-57C>A (n.932-57C>A) | gnomAD v4 |
| X | g.48688759C>G | CA412873046 | WAS | n.275C>G c.1031C>G (p.Pro344Arg) c.932-57C>G (n.932-57C>G) | |
| X | g.48688759C>T | CA412873048 | WAS | n.275C>T c.1031C>T (p.Pro344Leu) c.932-57C>T (n.932-57C>T) | |
| X | g.48688760del | CA2695233765 | WAS | n.276del c.1032del (p.Val345TyrfsTer?) c.932-56del (n.932-56del) | |
| X | g.48688760T>A | CA516356302 | WAS | n.276T>A c.1032T>A (p.Pro344=) c.932-56T>A (n.932-56T>A) | |
| X | g.48688760T>C | CA516356303 | WAS | n.276T>C c.1032T>C (p.Pro344=) c.932-56T>C (n.932-56T>C) | gnomAD v4 |
| X | g.48688760T>G | CA516356304 | WAS | n.276T>G c.1032T>G (p.Pro344=) c.932-56T>G (n.932-56T>G) | ClinVar |
| X | g.48688761G>A | CA412873051 | WAS | n.277G>A c.1033G>A (p.Val345Ile) c.932-55G>A (n.932-55G>A) | gnomAD v4 |
| X | g.48688761G>C | CA412873052 | WAS | n.277G>C c.1033G>C (p.Val345Leu) c.932-55G>C (n.932-55G>C) | dbSNP gnomAD v2 |
| X | g.48688761G= | CA2428355665 | WAS | n.277G= c.1033G= (p.Val345=) c.932-55G= (n.932-55G=) | |
| X | g.48688761G>T | CA412873054 | WAS | n.277G>T c.1033G>T (p.Val345Leu) c.932-55G>T (n.932-55G>T) | |
| X | g.48688762del | CA2579600718 | WAS | n.278del c.1034del (p.Val345AspfsTer?) c.932-54del (n.932-54del) | |
| X | g.48688762T>A | CA412873058 | WAS | n.278T>A c.1034T>A (p.Val345Glu) c.932-54T>A (n.932-54T>A) | |
| X | g.48688762T>C | CA412873060 | WAS | n.278T>C c.1034T>C (p.Val345Ala) c.932-54T>C (n.932-54T>C) | |
| X | g.48688762T>G | CA412873056 | WAS | n.278T>G c.1034T>G (p.Val345Gly) c.932-54T>G (n.932-54T>G) | |
| X | g.48688763A>C | CA516356307 | WAS | n.279A>C c.1035A>C (p.Val345=) c.932-53A>C (n.932-53A>C) | |
| X | g.48688763A>G | CA516356308 | WAS | n.279A>G c.1035A>G (p.Val345=) c.932-53A>G (n.932-53A>G) | |
| X | g.48688763A>T | CA516356309 | WAS | n.279A>T c.1035A>T (p.Val345=) c.932-53A>T (n.932-53A>T) | |
| X | g.48688764C>A | CA412873062 | WAS | n.280C>A c.1036C>A (p.Pro346Thr) c.932-52C>A (n.932-52C>A) | |
| X | g.48688764C>G | CA412873066 | WAS | n.280C>G c.1036C>G (p.Pro346Ala) c.932-52C>G (n.932-52C>G) | |
| X | g.48688764C>T | CA412873064 | WAS | n.280C>T c.1036C>T (p.Pro346Ser) c.932-52C>T (n.932-52C>T) | |
| X | g.48688765del | CA2695233766 | WAS | n.281del c.1037del (p.Pro346LeufsTer?) c.932-51del (n.932-51del) | |
| X | g.48688765C>A | CA412873068 | WAS | n.281C>A c.1037C>A (p.Pro346His) c.932-51C>A (n.932-51C>A) | gnomAD v4 |
| X | g.48688765C>G | CA412873071 | WAS | n.281C>G c.1037C>G (p.Pro346Arg) c.932-51C>G (n.932-51C>G) | |
| X | g.48688765C>T | CA412873072 | WAS | n.281C>T c.1037C>T (p.Pro346Leu) c.932-51C>T (n.932-51C>T) | gnomAD v4 |
| X | g.48688766T>A | CA516356313 | WAS | n.282T>A c.1038T>A (p.Pro346=) c.932-50T>A (n.932-50T>A) | |
| X | g.48688766T>C | CA516356314 | WAS | n.282T>C c.1038T>C (p.Pro346=) c.932-50T>C (n.932-50T>C) | |
| X | g.48688766T>G | CA516356315 | WAS | n.282T>G c.1038T>G (p.Pro346=) c.932-50T>G (n.932-50T>G) | ClinVar |
| X | g.48688768dup | CA2580101058 | WAS | n.284dup c.1040dup (p.Leu347PhefsTer?) c.932-48dup (n.932-48dup) | ClinVar |
| X | g.48688767T>A | CA412873073 | WAS | n.283T>A c.1039T>A (p.Leu347Met) c.932-49T>A (n.932-49T>A) | |
| X | g.48688767T>C | CA10404032 | WAS | n.283T>C c.1039T>C (p.Leu347=) c.932-49T>C (n.932-49T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688767T>G | CA412873075 | WAS | n.283T>G c.1039T>G (p.Leu347Val) c.932-49T>G (n.932-49T>G) | |
| X | g.48688767T= | CA2428355666 | WAS | n.283T= c.1039T= (p.Leu347=) c.932-49T= (n.932-49T=) | |
| X | g.48688768T>A | CA412873076 | WAS | n.284T>A c.1040T>A (p.Leu347Ter) c.932-48T>A (n.932-48T>A) | |
| X | g.48688768T>C | CA412873077 | WAS | n.284T>C c.1040T>C (p.Leu347Ser) c.932-48T>C (n.932-48T>C) | |
| X | g.48688768T>G | CA412873080 | WAS | n.284T>G c.1040T>G (p.Leu347Trp) c.932-48T>G (n.932-48T>G) | |
| X | g.48688769G>A | CA516356319 | WAS | n.285G>A c.1041G>A (p.Leu347=) c.932-47G>A (n.932-47G>A) | gnomAD v4 |
| X | g.48688769G>C | CA412873082 | WAS | n.285G>C c.1041G>C (p.Leu347Phe) c.932-47G>C (n.932-47G>C) | |
| X | g.48688769G>T | CA412873084 | WAS | n.285G>T c.1041G>T (p.Leu347Phe) c.932-47G>T (n.932-47G>T) | |
| X | g.48688770G>A | CA412873090 | WAS | n.286G>A c.1042G>A (p.Gly348Arg) c.932-46G>A (n.932-46G>A) | |
| X | g.48688770G>C | CA412873086 | WAS | n.286G>C c.1042G>C (p.Gly348Arg) c.932-46G>C (n.932-46G>C) | |
| X | g.48688770G>T | CA412873088 | WAS | n.286G>T c.1042G>T (p.Gly348Trp) c.932-46G>T (n.932-46G>T) | |
| X | g.48688771G>A | CA412873092 | WAS | n.287G>A c.1043G>A (p.Gly348Glu) c.932-45G>A (n.932-45G>A) | dbSNP |
| X | g.48688771G>C | CA412873094 | WAS | n.287G>C c.1043G>C (p.Gly348Ala) c.932-45G>C (n.932-45G>C) | |
| X | g.48688771G= | CA2428355667 | WAS | n.287G= c.1043G= (p.Gly348=) c.932-45G= (n.932-45G=) | |
| X | g.48688771G>T | CA412873095 | WAS | n.287G>T c.1043G>T (p.Gly348Val) c.932-45G>T (n.932-45G>T) | |
| X | g.48688772G>A | CA516356323 | WAS | n.288G>A c.1044G>A (p.Gly348=) c.932-44G>A (n.932-44G>A) | |
| X | g.48688772G>C | CA516356324 | WAS | n.288G>C c.1044G>C (p.Gly348=) c.932-44G>C (n.932-44G>C) | |
| X | g.48688772G>T | CA516356325 | WAS | n.288G>T c.1044G>T (p.Gly348=) c.932-44G>T (n.932-44G>T) | |
| X | g.48688773del | CA2579600719 | WAS | n.289del c.1045del (p.Ile349LeufsTer?) c.932-43del (n.932-43del) | |
| X | g.48688773A>C | CA412873098 | WAS | n.289A>C c.1045A>C (p.Ile349Leu) c.932-43A>C (n.932-43A>C) | gnomAD v4 |
| X | g.48688773A>G | CA412873099 | WAS | n.289A>G c.1045A>G (p.Ile349Val) c.932-43A>G (n.932-43A>G) | gnomAD v4 |
| X | g.48688773A>T | CA412873100 | WAS | n.289A>T c.1045A>T (p.Ile349Phe) c.932-43A>T (n.932-43A>T) | |
| X | g.48688774T>A | CA412873104 | WAS | n.290T>A c.1046T>A (p.Ile349Asn) c.932-42T>A (n.932-42T>A) | |
| X | g.48688774T>C | CA412873105 | WAS | n.290T>C c.1046T>C (p.Ile349Thr) c.932-42T>C (n.932-42T>C) | gnomAD v4 |
| X | g.48688774T>G | CA412873107 | WAS | n.290T>G c.1046T>G (p.Ile349Ser) c.932-42T>G (n.932-42T>G) | |
| X | g.48688775dup | CA2695233767 | WAS | n.291dup c.1047dup (p.Ala350CysfsTer?) c.932-41dup (n.932-41dup) | |
| X | g.48688775T>A | CA516356329 | WAS | n.291T>A c.1047T>A (p.Ile349=) c.932-41T>A (n.932-41T>A) | |
| X | g.48688775T>C | CA516356330 | WAS | n.291T>C c.1047T>C (p.Ile349=) c.932-41T>C (n.932-41T>C) | gnomAD v4 |
| X | g.48688775T>G | CA412873109 | WAS | n.291T>G c.1047T>G (p.Ile349Met) c.932-41T>G (n.932-41T>G) | |
| X | g.48688776G>A | CA412873115 | WAS | n.292G>A c.1048G>A (p.Ala350Thr) c.932-40G>A (n.932-40G>A) | gnomAD v4 |
| X | g.48688776G>C | CA412873114 | WAS | n.292G>C c.1048G>C (p.Ala350Pro) c.932-40G>C (n.932-40G>C) | |
| X | g.48688776G>T | CA412873111 | WAS | n.292G>T c.1048G>T (p.Ala350Ser) c.932-40G>T (n.932-40G>T) | gnomAD v4 |
| X | g.48688777C>A | CA412873117 | WAS | n.293C>A c.1049C>A (p.Ala350Asp) c.932-39C>A (n.932-39C>A) | gnomAD v4 |
| X | g.48688777C= | CA2428355668 | WAS | n.293C= c.1049C= (p.Ala350=) c.932-39C= (n.932-39C=) | |
| X | g.48688777C>G | CA412873119 | WAS | n.293C>G c.1049C>G (p.Ala350Gly) c.932-39C>G (n.932-39C>G) | gnomAD v4 |
| X | g.48688777C>T | CA412873120 | WAS | n.293C>T c.1049C>T (p.Ala350Val) c.932-39C>T (n.932-39C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688780dup | CA2695233768 | WAS | n.296dup c.1052dup (p.Pro352ThrfsTer?) c.932-36dup (n.932-36dup) | |
| X | g.48688780del | CA2499226746 | WAS | n.296del c.1052del (p.Pro351HisfsTer?) c.932-36del (n.932-36del) | ClinVar dbSNP |
| X | g.48688784_48688789del | CA2579600720 | WAS | n.300_305del c.1056_1061del (p.Pro353_Pro354del) c.932-32_932-27del (n.932-32_932-27del) | gnomAD v4 |
| 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.48688778C>A | CA516356335 | WAS | n.294C>A c.1050C>A (p.Ala350=) c.932-38C>A (n.932-38C>A) | gnomAD v4 |
| X | g.48688778C= | CA2428355669 | WAS | n.294C= c.1050C= (p.Ala350=) c.932-38C= (n.932-38C=) | |
| X | g.48688778C>G | CA516356336 | WAS | n.294C>G c.1050C>G (p.Ala350=) c.932-38C>G (n.932-38C>G) | |
| X | g.48688778C>T | CA516356334 | WAS | n.294C>T c.1050C>T (p.Ala350=) c.932-38C>T (n.932-38C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688779C>A | CA412873122 | WAS | n.295C>A c.1051C>A (p.Pro351Thr) c.932-37C>A (n.932-37C>A) | gnomAD v4 |
| X | g.48688779C>G | CA412873124 | WAS | n.295C>G c.1051C>G (p.Pro351Ala) c.932-37C>G (n.932-37C>G) | gnomAD v4 |
| X | g.48688779C>T | CA412873126 | WAS | n.295C>T c.1051C>T (p.Pro351Ser) c.932-37C>T (n.932-37C>T) | |
| X | g.48688780C>A | CA412873128 | WAS | n.296C>A c.1052C>A (p.Pro351Gln) c.932-36C>A (n.932-36C>A) | gnomAD v4 |
| X | g.48688780C>G | CA412873129 | WAS | n.296C>G c.1052C>G (p.Pro351Arg) c.932-36C>G (n.932-36C>G) | |
| X | g.48688780C>T | CA412873131 | WAS | n.296C>T c.1052C>T (p.Pro351Leu) c.932-36C>T (n.932-36C>T) | |
| X | g.48688781A= | CA2428355671 | WAS | n.297A= c.1053A= (p.Pro351=) c.932-35A= (n.932-35A=) | |
| X | g.48688781A>C | CA516356338 | WAS | n.297A>C c.1053A>C (p.Pro351=) c.932-35A>C (n.932-35A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688781A>G | CA516356339 | WAS | n.297A>G c.1053A>G (p.Pro351=) c.932-35A>G (n.932-35A>G) | |
| X | g.48688781A>T | CA516356340 | WAS | n.297A>T c.1053A>T (p.Pro351=) c.932-35A>T (n.932-35A>T) | |
| X | g.48688781_48688782delinsAC | CA2428355670 | WAS | n.297_298delinsAC c.1053_1054delinsAC (p.Pro351=) c.932-35_932-34delinsAC (n.932-35_932-34delinsAC) | |
| X | g.48688782C>A | CA412873132 | WAS | n.298C>A c.1054C>A (p.Pro352Thr) c.932-34C>A (n.932-34C>A) | gnomAD v4 |
| X | g.48688782C= | CA2428355672 | WAS | n.298C= c.1054C= (p.Pro352=) c.932-34C= (n.932-34C=) | |
| X | g.48688782C>G | CA412873133 | WAS | n.298C>G c.1054C>G (p.Pro352Ala) c.932-34C>G (n.932-34C>G) | |
| X | g.48688782C>T | CA412873135 | WAS | n.298C>T c.1054C>T (p.Pro352Ser) c.932-34C>T (n.932-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688786dup | CA916081268 | WAS | n.302dup c.1058dup (p.Pro354ThrfsTer?) c.932-30dup (n.932-30dup) | ClinVar dbSNP |
| X | g.48688786del | CA516356341 | WAS | n.302del c.1058del (p.Pro353HisfsTer?) c.932-30del (n.932-30del) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.48688783C>A | CA412873141 | WAS | n.299C>A c.1055C>A (p.Pro352His) c.932-33C>A (n.932-33C>A) | gnomAD v4 |
| X | g.48688783C>G | CA412873136 | WAS | n.299C>G c.1055C>G (p.Pro352Arg) c.932-33C>G (n.932-33C>G) | |
| X | g.48688783C>T | CA412873139 | WAS | n.299C>T c.1055C>T (p.Pro352Leu) c.932-33C>T (n.932-33C>T) | |
| X | g.48688784C>A | CA516356345 | WAS | n.300C>A c.1056C>A (p.Pro352=) c.932-32C>A (n.932-32C>A) | gnomAD v4 |
| X | g.48688784C>G | CA516356347 | WAS | n.300C>G c.1056C>G (p.Pro352=) c.932-32C>G (n.932-32C>G) | |
| X | g.48688784C>T | CA516356346 | WAS | n.300C>T c.1056C>T (p.Pro352=) c.932-32C>T (n.932-32C>T) | ClinVar gnomAD v4 |
| X | g.48688784_48688787delinsCCCA | CA2428355673 | WAS | n.300_303delinsCCCA c.1056_1059delinsCCCA (p.Pro352=) c.932-32_932-29delinsCCCA (n.932-32_932-29delinsCCCA) | |
| X | g.48688785C>A | CA412873144 | WAS | n.301C>A c.1057C>A (p.Pro353Thr) c.932-31C>A (n.932-31C>A) | gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688785C>G | CA412873146 | WAS | n.301C>G c.1057C>G (p.Pro353Ala) c.932-31C>G (n.932-31C>G) | |
| X | g.48688785C>T | CA412873148 | WAS | n.301C>T c.1057C>T (p.Pro353Ser) c.932-31C>T (n.932-31C>T) | |
| X | g.48688788_48688790del | CA891844003 | WAS | n.304_306del c.1060_1062del (p.Pro354del) c.932-28_932-26del (n.932-28_932-26del) | ClinVar dbSNP |
| X | g.48688786C>A | CA412873150 | WAS | n.302C>A c.1058C>A (p.Pro353Gln) c.932-30C>A (n.932-30C>A) | gnomAD v4 |
| X | g.48688786C>G | CA412873151 | WAS | n.302C>G c.1058C>G (p.Pro353Arg) c.932-30C>G (n.932-30C>G) | |
| X | g.48688786C>T | CA412873152 | WAS | n.302C>T c.1058C>T (p.Pro353Leu) c.932-30C>T (n.932-30C>T) | gnomAD v4 |
| X | g.48688787A= | CA2428355674 | WAS | n.303A= c.1059A= (p.Pro353=) c.932-29A= (n.932-29A=) | |
| X | g.48688787A>C | CA516356348 | WAS | n.303A>C c.1059A>C (p.Pro353=) c.932-29A>C (n.932-29A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688787A>G | CA516356349 | WAS | n.303A>G c.1059A>G (p.Pro353=) c.932-29A>G (n.932-29A>G) | gnomAD v4 |
| X | g.48688787A>T | CA516356350 | WAS | n.303A>T c.1059A>T (p.Pro353=) c.932-29A>T (n.932-29A>T) | |
| X | g.48688788C>A | CA412873154 | WAS | n.304C>A c.1060C>A (p.Pro354Thr) c.932-28C>A (n.932-28C>A) | gnomAD v4 |
| X | g.48688788C= | CA2428355675 | WAS | n.304C= c.1060C= (p.Pro354=) c.932-28C= (n.932-28C=) | |
| X | g.48688788C>G | CA412873156 | WAS | n.304C>G c.1060C>G (p.Pro354Ala) c.932-28C>G (n.932-28C>G) | dbSNP |
| X | g.48688788C>T | CA412873158 | WAS | n.304C>T c.1060C>T (p.Pro354Ser) c.932-28C>T (n.932-28C>T) | |
| X | g.48688789C>A | CA412873162 | WAS | n.305C>A c.1061C>A (p.Pro354Gln) c.932-27C>A (n.932-27C>A) | gnomAD v4 |
| X | g.48688789C>G | CA412873163 | WAS | n.305C>G c.1061C>G (p.Pro354Arg) c.932-27C>G (n.932-27C>G) | |
| X | g.48688789C>T | CA412873165 | WAS | n.305C>T c.1061C>T (p.Pro354Leu) c.932-27C>T (n.932-27C>T) | |
| X | g.48688790A= | CA2428355676 | WAS | n.306A= c.1062A= (p.Pro354=) c.932-26A= (n.932-26A=) | |
| X | g.48688790A>C | CA516356354 | WAS | n.306A>C c.1062A>C (p.Pro354=) c.932-26A>C (n.932-26A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688790A>G | CA516356355 | WAS | n.306A>G c.1062A>G (p.Pro354=) c.932-26A>G (n.932-26A>G) | |
| X | g.48688790A>T | CA516356356 | WAS | n.306A>T c.1062A>T (p.Pro354=) c.932-26A>T (n.932-26A>T) | |
| X | g.48688791A>C | CA412873169 | WAS | n.307A>C c.1063A>C (p.Thr355Pro) c.932-25A>C (n.932-25A>C) | gnomAD v4 |
| X | g.48688791A>G | CA412873171 | WAS | n.307A>G c.1063A>G (p.Thr355Ala) c.932-25A>G (n.932-25A>G) | |
| X | g.48688791A>T | CA412873167 | WAS | n.307A>T c.1063A>T (p.Thr355Ser) c.932-25A>T (n.932-25A>T) | |
| X | g.48688792C>A | CA412873175 | WAS | n.308C>A c.1064C>A (p.Thr355Lys) c.932-24C>A (n.932-24C>A) | gnomAD v4 |
| X | g.48688792C= | CA2428355677 | WAS | n.308C= c.1064C= (p.Thr355=) c.932-24C= (n.932-24C=) | |
| X | g.48688792C>G | CA412873173 | WAS | n.308C>G c.1064C>G (p.Thr355Arg) c.932-24C>G (n.932-24C>G) | |
| X | g.48688792C>T | CA10404033 | WAS | n.308C>T c.1064C>T (p.Thr355Ile) c.932-24C>T (n.932-24C>T) | dbSNP ExAC gnomAD v2 |