| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31094558T>A | CA395732498 | VKORC1 | c.172A>T (p.Arg58Trp) c.245+831A>T c.270+831A>T (n.270+831A>T) c.45A>T n.960A>T | |
| 16 | g.31094558T>C | CA115414 | VKORC1 | c.172A>G (p.Arg58Gly) c.245+831A>G c.270+831A>G (n.270+831A>G) c.45A>G n.960A>G | ClinVar dbSNP |
| 16 | g.31094558T>G | CA494707878 | VKORC1 | c.172A>C (p.Arg58=) c.245+831A>C c.270+831A>C (n.270+831A>C) c.45A>C n.960A>C | |
| 16 | g.31094558T= | CA2216893966 | VKORC1 | c.172A= (p.Arg58=) c.245+831A= c.270+831A= (n.270+831A=) c.45A= n.960A= | |
| 16 | g.31094558_31094561delinsTGGA | CA2216893964 | VKORC1 | c.169_172delinsTCCA (p.Ser57=) c.245+828_245+831delinsTCCA c.270+828_270+831delinsTCCA (n.270+828_270+831delinsTCCA) c.42_45delinsTCCA n.957_960delinsTCCA | |
| 16 | g.31094559G>A | CA494707882 | VKORC1 | c.171C>T (p.Ser57=) c.245+830C>T c.270+830C>T (n.270+830C>T) c.44C>T n.959C>T | |
| 16 | g.31094559G>C | CA494707884 | VKORC1 | c.171C>G (p.Ser57=) c.245+830C>G c.270+830C>G (n.270+830C>G) c.44C>G n.959C>G | |
| 16 | g.31094559G>T | CA494707886 | VKORC1 | c.171C>A (p.Ser57=) c.245+830C>A c.270+830C>A (n.270+830C>A) c.44C>A n.959C>A | gnomAD v4 COSMIC |
| 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.31094560G>A | CA395732502 | VKORC1 | c.170C>T (p.Ser57Phe) c.245+829C>T c.270+829C>T (n.270+829C>T) c.43C>T n.958C>T | gnomAD v4 |
| 16 | g.31094560G>C | CA395732504 | VKORC1 | c.170C>G (p.Ser57Cys) c.245+829C>G c.270+829C>G (n.270+829C>G) c.43C>G n.958C>G | gnomAD v4 |
| 16 | g.31094560G>T | CA395732505 | VKORC1 | c.170C>A (p.Ser57Tyr) c.245+829C>A c.270+829C>A (n.270+829C>A) c.43C>A n.958C>A | |
| 16 | g.31094561A>C | CA395732510 | VKORC1 | c.169T>G (p.Ser57Ala) c.245+828T>G c.270+828T>G (n.270+828T>G) c.42T>G n.957T>G | |
| 16 | g.31094561A>G | CA395732508 | VKORC1 | c.169T>C (p.Ser57Pro) c.245+828T>C c.270+828T>C (n.270+828T>C) c.42T>C n.957T>C | |
| 16 | g.31094561A>T | CA395732509 | VKORC1 | c.169T>A (p.Ser57Thr) c.245+828T>A c.270+828T>A (n.270+828T>A) c.42T>A n.957T>A | |
| 16 | g.31094562G>A | CA8021283 | VKORC1 | c.168C>T (p.Ser56=) c.245+827C>T c.270+827C>T (n.270+827C>T) c.41C>T n.956C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31094562G>C | CA494707901 | VKORC1 | c.168C>G (p.Ser56=) c.245+827C>G c.270+827C>G (n.270+827C>G) c.41C>G n.956C>G | |
| 16 | g.31094562G= | CA2216893969 | VKORC1 | c.168C= (p.Ser56=) c.245+827C= c.270+827C= (n.270+827C=) c.41C= n.956C= | |
| 16 | g.31094562G>T | CA494707903 | VKORC1 | c.168C>A (p.Ser56=) c.245+827C>A c.270+827C>A (n.270+827C>A) c.41C>A n.956C>A | gnomAD v4 |
| 16 | g.31094563G>A | CA395732513 | VKORC1 | c.167C>T (p.Ser56Phe) c.245+826C>T c.270+826C>T (n.270+826C>T) c.40C>T n.955C>T | gnomAD v4 |
| 16 | g.31094563G>C | CA395732514 | VKORC1 | c.167C>G (p.Ser56Cys) c.245+826C>G c.270+826C>G (n.270+826C>G) c.40C>G n.955C>G | |
| 16 | g.31094563G>T | CA395732516 | VKORC1 | c.167C>A (p.Ser56Tyr) c.245+826C>A c.270+826C>A (n.270+826C>A) c.40C>A n.955C>A | |
| 16 | g.31094564A>C | CA395732518 | VKORC1 | c.166T>G (p.Ser56Ala) c.245+825T>G c.270+825T>G (n.270+825T>G) c.39T>G n.954T>G | |
| 16 | g.31094564A>G | CA395732520 | VKORC1 | c.166T>C (p.Ser56Pro) c.245+825T>C c.270+825T>C (n.270+825T>C) c.39T>C n.954T>C | |
| 16 | g.31094564A>T | CA395732522 | VKORC1 | c.166T>A (p.Ser56Thr) c.245+825T>A c.270+825T>A (n.270+825T>A) c.39T>A n.954T>A | |
| 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 |