| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20858446G>A | CA478862086 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>A (p.Leu78=) n.86G>A c.150G>A (p.Leu50=) | |
| 12 | g.20858446G>C | CA384098747 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>C (p.Leu78Phe) n.86G>C c.150G>C (p.Leu50Phe) | |
| 12 | g.20858446G= | CA2020843377 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G= (p.Leu78=) n.86G= c.150G= (p.Leu50=) | |
| 12 | g.20858446G>T | CA384098749 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>T (p.Leu78Phe) n.86G>T c.150G>T (p.Leu50Phe) | |
| 12 | g.20858447C>A | CA384098751 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>A (p.Leu79Ile) n.87C>A c.151C>A (p.Leu51Ile) | |
| 12 | g.20858447C>G | CA384098753 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>G (p.Leu79Val) n.87C>G c.151C>G (p.Leu51Val) | |
| 12 | g.20858447C>T | CA384098755 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>T (p.Leu79Phe) n.87C>T c.151C>T (p.Leu51Phe) | |
| 12 | g.20858448T>A | CA384098757 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>A (p.Leu79His) n.88T>A c.152T>A (p.Leu51His) | |
| 12 | g.20858448T>C | CA384098759 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>C (p.Leu79Pro) n.88T>C c.152T>C (p.Leu51Pro) | |
| 12 | g.20858448T>G | CA384098760 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>G (p.Leu79Arg) n.88T>G c.152T>G (p.Leu51Arg) | |
| 12 | g.20858449T>A | CA478862093 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>A (p.Leu79=) n.89T>A c.153T>A (p.Leu51=) | |
| 12 | g.20858449T>C | CA478862090 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>C (p.Leu79=) n.89T>C c.153T>C (p.Leu51=) | |
| 12 | g.20858449T>G | CA478862092 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>G (p.Leu79=) n.89T>G c.153T>G (p.Leu51=) | |
| 12 | g.20858451_20858452del | CA2575095547 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239_240del (p.Val80AspfsTer10) n.91_92del c.155_156del (p.Val52AspfsTer10) | |
| 12 | g.20858450G>A | CA384098763 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>A (p.Val80Met) n.90G>A c.154G>A (p.Val52Met) | |
| 12 | g.20858450G>C | CA384098764 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>C (p.Val80Leu) n.90G>C c.154G>C (p.Val52Leu) | |
| 12 | g.20858450G= | CA2020843378 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G= (p.Val80=) n.90G= c.154G= (p.Val52=) | |
| 12 | g.20858450G>T | CA6475118 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>T (p.Val80Leu) n.90G>T c.154G>T (p.Val52Leu) | dbSNP ExAC gnomAD |
| 12 | g.20858451T>A | CA384098768 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>A (p.Val80Glu) n.91T>A c.155T>A (p.Val52Glu) | |
| 12 | g.20858451T>C | CA384098769 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>C (p.Val80Ala) n.91T>C c.155T>C (p.Val52Ala) | |
| 12 | g.20858451T>G | CA384098771 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>G (p.Val80Gly) n.91T>G c.155T>G (p.Val52Gly) | |
| 12 | g.20858452G>A | CA478862095 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>A (p.Val80=) n.92G>A c.156G>A (p.Val52=) | |
| 12 | g.20858452G>C | CA478862097 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>C (p.Val80=) n.92G>C c.156G>C (p.Val52=) | |
| 12 | g.20858452G>T | CA478862096 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>T (p.Val80=) n.92G>T c.156G>T (p.Val52=) | |
| 12 | g.20858453A= | CA2020843380 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A= (p.Ile81=) n.93A= c.157A= (p.Ile53=) | |
| 12 | g.20858453A>C | CA384098776 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>C (p.Ile81Leu) n.93A>C c.157A>C (p.Ile53Leu) | |
| 12 | g.20858453A>G | CA384098778 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>G (p.Ile81Val) n.93A>G c.157A>G (p.Ile53Val) | |
| 12 | g.20858453A>T | CA384098774 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>T (p.Ile81Phe) n.93A>T c.157A>T (p.Ile53Phe) | |
| 12 | g.20858453_20858459delinsATTGTAT | CA2020843379 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241_247delinsATTGTAT (p.Ile81=) n.93_99delinsATTGTAT c.157_163delinsATTGTAT (p.Ile53=) | |
| 12 | g.20858454T>A | CA384098779 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>A (p.Ile81Asn) n.94T>A c.158T>A (p.Ile53Asn) | |
| 12 | g.20858454T>C | CA384098781 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>C (p.Ile81Thr) n.94T>C c.158T>C (p.Ile53Thr) | |
| 12 | g.20858454T>G | CA384098783 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>G (p.Ile81Ser) n.94T>G c.158T>G (p.Ile53Ser) | |
| 12 | g.20858459_20858464del | CA233517485 | SLCO1B3,SLCO1B3-SLCO1B7 | c.247_252del (p.Phe83_Val84del) n.99_104del c.163_168del (p.Phe55_Val56del) | dbSNP |
| 12 | g.20858455T>A | CA478862099 | SLCO1B3,SLCO1B3-SLCO1B7 | c.243T>A (p.Ile81=) n.95T>A c.159T>A (p.Ile53=) | |
| 12 | g.20858455T>C | CA478862100 | SLCO1B3,SLCO1B3-SLCO1B7 | c.243T>C (p.Ile81=) n.95T>C c.159T>C (p.Ile53=) | |
| 12 | g.20858455T>G | CA384098785 | SLCO1B3,SLCO1B3-SLCO1B7 | c.243T>G (p.Ile81Met) n.95T>G c.159T>G (p.Ile53Met) | |
| 12 | g.20858456G>A | CA384098791 | SLCO1B3,SLCO1B3-SLCO1B7 | c.244G>A (p.Val82Ile) n.96G>A c.160G>A (p.Val54Ile) | |
| 12 | g.20858456G>C | CA384098789 | SLCO1B3,SLCO1B3-SLCO1B7 | c.244G>C (p.Val82Leu) n.96G>C c.160G>C (p.Val54Leu) | |
| 12 | g.20858456G>T | CA384098788 | SLCO1B3,SLCO1B3-SLCO1B7 | c.244G>T (p.Val82Leu) n.96G>T c.160G>T (p.Val54Leu) | |
| 12 | g.20858457T>A | CA384098794 | SLCO1B3,SLCO1B3-SLCO1B7 | c.245T>A (p.Val82Glu) n.97T>A c.161T>A (p.Val54Glu) | |
| 12 | g.20858457T>C | CA384098795 | SLCO1B3,SLCO1B3-SLCO1B7 | c.245T>C (p.Val82Ala) n.97T>C c.161T>C (p.Val54Ala) | |
| 12 | g.20858457T>G | CA384098797 | SLCO1B3,SLCO1B3-SLCO1B7 | c.245T>G (p.Val82Gly) n.97T>G c.161T>G (p.Val54Gly) | |
| 12 | g.20858458A>C | CA478862102 | SLCO1B3,SLCO1B3-SLCO1B7 | c.246A>C (p.Val82=) n.98A>C c.162A>C (p.Val54=) | |
| 12 | g.20858458A>G | CA478862103 | SLCO1B3,SLCO1B3-SLCO1B7 | c.246A>G (p.Val82=) n.98A>G c.162A>G (p.Val54=) | |
| 12 | g.20858458A>T | CA478862104 | SLCO1B3,SLCO1B3-SLCO1B7 | c.246A>T (p.Val82=) n.98A>T c.162A>T (p.Val54=) | |
| 12 | g.20858459T>A | CA384098799 | SLCO1B3,SLCO1B3-SLCO1B7 | c.247T>A (p.Phe83Ile) n.99T>A c.163T>A (p.Phe55Ile) | |
| 12 | g.20858459T>C | CA384098801 | SLCO1B3,SLCO1B3-SLCO1B7 | c.247T>C (p.Phe83Leu) n.99T>C c.163T>C (p.Phe55Leu) | |
| 12 | g.20858459T>G | CA384098804 | SLCO1B3,SLCO1B3-SLCO1B7 | c.247T>G (p.Phe83Val) n.99T>G c.163T>G (p.Phe55Val) | |
| 12 | g.20858460T>A | CA384098809 | SLCO1B3,SLCO1B3-SLCO1B7 | c.248T>A (p.Phe83Tyr) n.100T>A c.164T>A (p.Phe55Tyr) | |
| 12 | g.20858460T>C | CA384098805 | SLCO1B3,SLCO1B3-SLCO1B7 | c.248T>C (p.Phe83Ser) n.100T>C c.164T>C (p.Phe55Ser) |