Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |