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