Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31094563_31094565del | CA622171765 | VKORC1 | c.169_171del (p.Ser57del) c.245+828_245+830del c.270+828_270+830del (n.270+828_270+830del) c.42_44del n.957_959del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31094565G>A | CA494707915 | VKORC1 | c.165C>T (p.Phe55=) c.245+824C>T c.270+824C>T (n.270+824C>T) c.38C>T n.953C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31094565G>C | CA395732524 | VKORC1 | c.165C>G (p.Phe55Leu) c.245+824C>G c.270+824C>G (n.270+824C>G) c.38C>G n.953C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31094565G= | CA2216893972 | VKORC1 | c.165C= (p.Phe55=) c.245+824C= c.270+824C= (n.270+824C=) c.38C= n.953C= | |
16 | g.31094565G>T | CA395732523 | VKORC1 | c.165C>A (p.Phe55Leu) c.245+824C>A c.270+824C>A (n.270+824C>A) c.38C>A n.953C>A | |
16 | g.31094566A>C | CA395732526 | VKORC1 | c.164T>G (p.Phe55Cys) c.245+823T>G c.270+823T>G (n.270+823T>G) c.37T>G n.952T>G | |
16 | g.31094566A>G | CA395732528 | VKORC1 | c.164T>C (p.Phe55Ser) c.245+823T>C c.270+823T>C (n.270+823T>C) c.37T>C n.952T>C | |
16 | g.31094566A>T | CA395732529 | VKORC1 | c.164T>A (p.Phe55Tyr) c.245+823T>A c.270+823T>A (n.270+823T>A) c.37T>A n.952T>A | |
16 | g.31094567A= | CA2216893974 | VKORC1 | c.163T= (p.Phe55=) c.245+822T= c.270+822T= (n.270+822T=) c.36T= n.951T= | |
16 | g.31094567A>C | CA395732531 | VKORC1 | c.163T>G (p.Phe55Val) c.245+822T>G c.270+822T>G (n.270+822T>G) c.36T>G n.951T>G | |
16 | g.31094567A>G | CA8021284 | VKORC1 | c.163T>C (p.Phe55Leu) c.245+822T>C c.270+822T>C (n.270+822T>C) c.36T>C n.951T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31094567A>T | CA395732533 | VKORC1 | c.163T>A (p.Phe55Ile) c.245+822T>A c.270+822T>A (n.270+822T>A) c.36T>A n.951T>A | |
16 | g.31094568G>A | CA494707926 | VKORC1 | c.162C>T (p.Val54=) c.245+821C>T c.270+821C>T (n.270+821C>T) c.35C>T n.950C>T | |
16 | g.31094568G>C | CA494707928 | VKORC1 | c.162C>G (p.Val54=) c.245+821C>G c.270+821C>G (n.270+821C>G) c.35C>G n.950C>G | |
16 | g.31094568G>T | CA494707930 | VKORC1 | c.162C>A (p.Val54=) c.245+821C>A c.270+821C>A (n.270+821C>A) c.35C>A n.950C>A | gnomAD v4 |
16 | g.31094569A>C | CA395732535 | VKORC1 | c.161T>G (p.Val54Gly) c.245+820T>G c.270+820T>G (n.270+820T>G) c.34T>G n.949T>G | |
16 | g.31094569A>G | CA395732539 | VKORC1 | c.161T>C (p.Val54Ala) c.245+820T>C c.270+820T>C (n.270+820T>C) c.34T>C n.949T>C | |
16 | g.31094569A>T | CA395732537 | VKORC1 | c.161T>A (p.Val54Asp) c.245+820T>A c.270+820T>A (n.270+820T>A) c.34T>A n.949T>A | |
16 | g.31094570C>A | CA395732540 | VKORC1 | c.160G>T (p.Val54Phe) c.245+819G>T c.270+819G>T (n.270+819G>T) c.33G>T n.948G>T | gnomAD v4 |
16 | g.31094570C= | CA2216893976 | VKORC1 | c.160G= (p.Val54=) c.245+819G= c.270+819G= (n.270+819G=) c.33G= n.948G= | |
16 | g.31094570C>G | CA395732542 | VKORC1 | c.160G>C (p.Val54Leu) c.245+819G>C c.270+819G>C (n.270+819G>C) c.33G>C n.948G>C | gnomAD v4 |
16 | g.31094570C>T | CA395732544 | VKORC1 | c.160G>A (p.Val54Ile) c.245+819G>A c.270+819G>A (n.270+819G>A) c.33G>A n.948G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31094571G>A | CA494707941 | VKORC1 | c.159C>T (p.Arg53=) c.245+818C>T c.270+818C>T (n.270+818C>T) c.32C>T n.947C>T | gnomAD v4 |
16 | g.31094571G>C | CA494707947 | VKORC1 | c.159C>G (p.Arg53=) c.245+818C>G c.270+818C>G (n.270+818C>G) c.32C>G n.947C>G | |
16 | g.31094571G>T | CA494707950 | VKORC1 | c.159C>A (p.Arg53=) c.245+818C>A c.270+818C>A (n.270+818C>A) c.32C>A n.947C>A | |
16 | g.31094572C>A | CA395732546 | VKORC1 | c.158G>T (p.Arg53Leu) c.245+817G>T c.270+817G>T (n.270+817G>T) c.31G>T n.946G>T | |
16 | g.31094572C= | CA2216893978 | VKORC1 | c.158G= (p.Arg53=) c.245+817G= c.270+817G= (n.270+817G=) c.31G= n.946G= | |
16 | g.31094572C>G | CA395732547 | VKORC1 | c.158G>C (p.Arg53Pro) c.245+817G>C c.270+817G>C (n.270+817G>C) c.31G>C n.946G>C | |
16 | g.31094572C>T | CA395732548 | VKORC1 | c.158G>A (p.Arg53His) c.245+817G>A c.270+817G>A (n.270+817G>A) c.31G>A n.946G>A | dbSNP |
16 | g.31094573G>A | CA8021286 | VKORC1 | c.157C>T (p.Arg53Cys) c.245+816C>T c.270+816C>T (n.270+816C>T) c.30C>T n.945C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31094573G>C | CA395732552 | VKORC1 | c.157C>G (p.Arg53Gly) c.245+816C>G c.270+816C>G (n.270+816C>G) c.30C>G n.945C>G | |
16 | g.31094573G= | CA2216893980 | VKORC1 | c.157C= (p.Arg53=) c.245+816C= c.270+816C= (n.270+816C=) c.30C= n.945C= | |
16 | g.31094573G>T | CA8021285 | VKORC1 | c.157C>A (p.Arg53Ser) c.245+816C>A c.270+816C>A (n.270+816C>A) c.30C>A n.945C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31094574C>A | CA494707957 | VKORC1 | c.156G>T (p.Ser52=) c.245+815G>T c.270+815G>T (n.270+815G>T) c.29G>T n.944G>T | |
16 | g.31094574C>G | CA494707967 | VKORC1 | c.156G>C (p.Ser52=) c.245+815G>C c.270+815G>C (n.270+815G>C) c.29G>C n.944G>C | |
16 | g.31094574C>T | CA494707969 | VKORC1 | c.156G>A (p.Ser52=) c.245+815G>A c.270+815G>A (n.270+815G>A) c.29G>A n.944G>A | |
16 | g.31094575G>A | CA395732555 | VKORC1 | c.155C>T (p.Ser52Leu) c.245+814C>T c.270+814C>T (n.270+814C>T) c.28C>T n.943C>T | gnomAD v2 gnomAD v4 |
16 | g.31094575G>C | CA395732557 | VKORC1 | c.155C>G (p.Ser52Trp) c.245+814C>G c.270+814C>G (n.270+814C>G) c.28C>G n.943C>G | |
16 | g.31094575G= | CA2216893983 | VKORC1 | c.155C= (p.Ser52=) c.245+814C= c.270+814C= (n.270+814C=) c.28C= n.943C= | |
16 | g.31094575G>T | CA8021288 | VKORC1 | c.155C>A (p.Ser52Ter) c.245+814C>A c.270+814C>A (n.270+814C>A) c.28C>A n.943C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31094575_31094576delinsGA | CA2216893984 | VKORC1 | c.154_155delinsTC (p.Ser52=) c.245+813_245+814delinsTC c.270+813_270+814delinsTC (n.270+813_270+814delinsTC) c.27_28delinsTC n.942_943delinsTC | |
16 | g.31094577_31094584del | CA2632823834 | VKORC1 | c.148_155del (p.Ser50AlafsTer?) c.148_155del (p.Ser50AlafsTer17) c.245+807_245+814del c.270+807_270+814del (n.270+807_270+814del) c.148_155del (p.Ser50AlafsTer25) c.21_28del n.936_943del | gnomAD v4 |
16 | g.31094576A>C | CA395732560 | VKORC1 | c.154T>G (p.Ser52Ala) c.245+813T>G c.270+813T>G (n.270+813T>G) c.27T>G n.942T>G | |
16 | g.31094576A>G | CA395732563 | VKORC1 | c.154T>C (p.Ser52Pro) c.245+813T>C c.270+813T>C (n.270+813T>C) c.27T>C n.942T>C | |
16 | g.31094576A>T | CA395732564 | VKORC1 | c.154T>A (p.Ser52Thr) c.245+813T>A c.270+813T>A (n.270+813T>A) c.27T>A n.942T>A | |
16 | g.31094577del | CA8021287 | VKORC1 | c.154del (p.Ser52ArgfsTer?) c.154del (p.Ser52ArgfsTer13) c.245+813del c.270+813del (n.270+813del) c.27del n.942del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31094577A>C | CA395732566 | VKORC1 | c.153T>G (p.Cys51Trp) c.245+812T>G c.270+812T>G (n.270+812T>G) c.26T>G n.941T>G | |
16 | g.31094577A>G | CA494707986 | VKORC1 | c.153T>C (p.Cys51=) c.245+812T>C c.270+812T>C (n.270+812T>C) c.26T>C n.941T>C | |
16 | g.31094577A>T | CA395732568 | VKORC1 | c.153T>A (p.Cys51Ter) c.245+812T>A c.270+812T>A (n.270+812T>A) c.26T>A n.941T>A | |
16 | g.31094578C>A | CA395732570 | VKORC1 | c.152G>T (p.Cys51Phe) c.245+811G>T c.270+811G>T (n.270+811G>T) c.25G>T n.940G>T |