Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
16 | g.31094578C= | CA2216893987 | VKORC1 | c.152G= (p.Cys51=) c.245+811G= c.270+811G= (n.270+811G=) c.25G= n.940G= | |
16 | g.31094578C>G | CA395732572 | VKORC1 | c.152G>C (p.Cys51Ser) c.245+811G>C c.270+811G>C (n.270+811G>C) c.25G>C n.940G>C | |
16 | g.31094578C>T | CA395732573 | VKORC1 | c.152G>A (p.Cys51Tyr) c.245+811G>A c.270+811G>A (n.270+811G>A) c.25G>A n.940G>A | dbSNP |
16 | g.31094579A>C | CA395732578 | VKORC1 | c.151T>G (p.Cys51Gly) c.245+810T>G c.270+810T>G (n.270+810T>G) c.24T>G n.939T>G | |
16 | g.31094579A>G | CA395732575 | VKORC1 | c.151T>C (p.Cys51Arg) c.245+810T>C c.270+810T>C (n.270+810T>C) c.24T>C n.939T>C | |
16 | g.31094579A>T | CA395732577 | VKORC1 | c.151T>A (p.Cys51Ser) c.245+810T>A c.270+810T>A (n.270+810T>A) c.24T>A n.939T>A | |
16 | g.31094580G>A | CA494708009 | VKORC1 | c.150C>T (p.Ser50=) c.245+809C>T c.270+809C>T (n.270+809C>T) c.23C>T n.938C>T | |
16 | g.31094580G>C | CA395732580 | VKORC1 | c.150C>G (p.Ser50Arg) c.245+809C>G c.270+809C>G (n.270+809C>G) c.23C>G n.938C>G | |
16 | g.31094580G>T | CA395732581 | VKORC1 | c.150C>A (p.Ser50Arg) c.245+809C>A c.270+809C>A (n.270+809C>A) c.23C>A n.938C>A | |
16 | g.31094581C>A | CA395732583 | VKORC1 | c.149G>T (p.Ser50Ile) c.245+808G>T c.270+808G>T (n.270+808G>T) c.22G>T n.937G>T | |
16 | g.31094581C>G | CA395732585 | VKORC1 | c.149G>C (p.Ser50Thr) c.245+808G>C c.270+808G>C (n.270+808G>C) c.22G>C n.937G>C | |
16 | g.31094581C>T | CA395732587 | VKORC1 | c.149G>A (p.Ser50Asn) c.245+808G>A c.270+808G>A (n.270+808G>A) c.22G>A n.937G>A | gnomAD v4 |
16 | g.31094582T>A | CA395732588 | VKORC1 | c.148A>T (p.Ser50Cys) c.245+807A>T c.270+807A>T (n.270+807A>T) c.21A>T n.936A>T | |
16 | g.31094582T>C | CA395732590 | VKORC1 | c.148A>G (p.Ser50Gly) c.245+807A>G c.270+807A>G (n.270+807A>G) c.21A>G n.936A>G | dbSNP |
16 | g.31094582T>G | CA395732589 | VKORC1 | c.148A>C (p.Ser50Arg) c.245+807A>C c.270+807A>C (n.270+807A>C) c.21A>C n.936A>C | |
16 | g.31094582T= | CA2216893989 | VKORC1 | c.148A= (p.Ser50=) c.245+807A= c.270+807A= (n.270+807A=) c.21A= n.936A= | |
16 | g.31094583G>A | CA494708027 | VKORC1 | c.147C>T (p.Ile49=) c.245+806C>T c.270+806C>T (n.270+806C>T) c.20C>T n.935C>T | |
16 | g.31094583G>C | CA395732592 | VKORC1 | c.147C>G (p.Ile49Met) c.245+806C>G c.270+806C>G (n.270+806C>G) c.20C>G n.935C>G | dbSNP gnomAD v4 |