Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | ClinVar |
17 | g.80104615del | CA2573054599 | GAA | c.29del (p.His10ProfsTer?) | dbSNP |
17 | g.80104615A>C | CA401359946 | GAA | c.29A>C (p.His10Pro) | |
17 | g.80104615A>G | CA401359948 | GAA | c.29A>G (p.His10Arg) | dbSNP gnomAD v4 |
17 | g.80104615A>T | CA401359950 | GAA | c.29A>T (p.His10Leu) | ClinVar gnomAD v4 |
17 | g.80104616C>A | CA401359953 | GAA | c.30C>A (p.His10Gln) | |
17 | g.80104616C= | CA2277810543 | GAA | c.30C= (p.His10=) | |
17 | g.80104616C>G | CA401359954 | GAA | c.30C>G (p.His10Gln) | dbSNP |
17 | g.80104616C>T | CA502176932 | GAA | c.30C>T (p.His10=) | ClinVar gnomAD v4 |
17 | g.80104617C>A | CA502176934 | GAA | c.31C>A (p.Arg11=) | |
17 | g.80104617C= | CA2277810544 | GAA | c.31C= (p.Arg11=) | |
17 | g.80104617C>G | CA401359956 | GAA | c.31C>G (p.Arg11Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104617C>T | CA8814759 | GAA | c.31C>T (p.Arg11Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104618G>A | CA8814760 | GAA | c.32G>A (p.Arg11Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104618G>C | CA401359961 | GAA | c.32G>C (p.Arg11Pro) | |
17 | g.80104618G= | CA2277810545 | GAA | c.32G= (p.Arg11=) | |
17 | g.80104618G>T | CA8814761 | GAA | c.32G>T (p.Arg11Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104619_80104633del | CA2518182731 | GAA | c.33_47del (p.Leu12_Cys16del) | |
17 | g.80104619G>A | CA502176940 | GAA | c.33G>A (p.Arg11=) | gnomAD v4 |
17 | g.80104619G>C | CA502176941 | GAA | c.33G>C (p.Arg11=) | |
17 | g.80104619G>T | CA502176943 | GAA | c.33G>T (p.Arg11=) | |
17 | g.80104620C>A | CA401359965 | GAA | c.34C>A (p.Leu12Ile) | |
17 | g.80104620C= | CA2277810546 | GAA | c.34C= (p.Leu12=) | |
17 | g.80104620C>G | CA401359968 | GAA | c.34C>G (p.Leu12Val) | |
17 | g.80104620C>T | CA8814763 | GAA | c.34C>T (p.Leu12Phe) | dbSNP ExAC gnomAD v2 |
17 | g.80104620_80104624delinsCTCCT | CA2277810547 | GAA | c.34_38delinsCTCCT (p.Leu12=) | |
17 | g.80104621T>A | CA401359971 | GAA | c.35T>A (p.Leu12His) | |
17 | g.80104621T>C | CA8814764 | GAA | c.35T>C (p.Leu12Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104621T>G | CA401359974 | GAA | c.35T>G (p.Leu12Arg) | |
17 | g.80104621T= | CA2277810548 | GAA | c.35T= (p.Leu12=) | |
17 | g.80104621_80104624del | CA8814762 | GAA | c.35_38del (p.Leu12ArgfsTer30) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104622C>A | CA502176953 | GAA | c.36C>A (p.Leu12=) | |
17 | g.80104622C= | CA2277810549 | GAA | c.36C= (p.Leu12=) | |
17 | g.80104622C>G | CA502176956 | GAA | c.36C>G (p.Leu12=) | |
17 | g.80104622C>T | CA8814765 | GAA | c.36C>T (p.Leu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104623C>A | CA401359979 | GAA | c.37C>A (p.Leu13Met) | |
17 | g.80104623C= | CA2277810550 | GAA | c.37C= (p.Leu13=) | |
17 | g.80104623C>G | CA401359981 | GAA | c.37C>G (p.Leu13Val) | |
17 | g.80104623C>T | CA502176958 | GAA | c.37C>T (p.Leu13=) | dbSNP |
17 | g.80104626_80104633del | CA913184761 | GAA | c.40_47del (p.Ala14ArgfsTer18) | ClinVar |
17 | g.80104624T>A | CA401359984 | GAA | c.38T>A (p.Leu13Gln) | |
17 | g.80104624T>C | CA401359987 | GAA | c.38T>C (p.Leu13Pro) | |
17 | g.80104624T>G | CA401359989 | GAA | c.38T>G (p.Leu13Arg) | |
17 | g.80104625G>A | CA502176962 | GAA | c.39G>A (p.Leu13=) | |
17 | g.80104625G>C | CA502176964 | GAA | c.39G>C (p.Leu13=) | |
17 | g.80104625G>T | CA502176965 | GAA | c.39G>T (p.Leu13=) | |
17 | g.80104625_80104630delinsGGCCGT | CA2277810551 | GAA | c.39_44delinsGGCCGT (p.Leu13=) | |
17 | g.80104626G>A | CA401359995 | GAA | c.40G>A (p.Ala14Thr) | gnomAD v4 |
17 | g.80104626G>C | CA401359994 | GAA | c.40G>C (p.Ala14Pro) | |
17 | g.80104626G>T | CA401359996 | GAA | c.40G>T (p.Ala14Ser) |