| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.20858460T>G | CA384098808 | SLCO1B3,SLCO1B3-SLCO1B7 | c.248T>G (p.Phe83Cys) n.100T>G c.164T>G (p.Phe55Cys) | |
| 12 | g.20858461T>A | CA384098811 | SLCO1B3,SLCO1B3-SLCO1B7 | c.249T>A (p.Phe83Leu) n.101T>A c.165T>A (p.Phe55Leu) | |
| 12 | g.20858461T>C | CA478862107 | SLCO1B3,SLCO1B3-SLCO1B7 | c.249T>C (p.Phe83=) n.101T>C c.165T>C (p.Phe55=) | |
| 12 | g.20858461T>G | CA384098813 | SLCO1B3,SLCO1B3-SLCO1B7 | c.249T>G (p.Phe83Leu) n.101T>G c.165T>G (p.Phe55Leu) | |
| 12 | g.20858461_20858462delinsTG | CA2020843381 | SLCO1B3,SLCO1B3-SLCO1B7 | c.249_250delinsTG (p.Phe83=) n.101_102delinsTG c.165_166delinsTG (p.Phe55=) | |
| 12 | g.20858462del | CA603649722 | SLCO1B3,SLCO1B3-SLCO1B7 | c.250del (p.Val84Ter) n.102del c.166del (p.Val56Ter) | dbSNP gnomAD |
| 12 | g.20858462G>A | CA384098815 | SLCO1B3,SLCO1B3-SLCO1B7 | c.250G>A (p.Val84Ile) n.102G>A c.166G>A (p.Val56Ile) | |
| 12 | g.20858462G>C | CA6475119 | SLCO1B3,SLCO1B3-SLCO1B7 | c.250G>C (p.Val84Leu) n.102G>C c.166G>C (p.Val56Leu) | dbSNP ExAC gnomAD |
| 12 | g.20858462G= | CA2020843382 | SLCO1B3,SLCO1B3-SLCO1B7 | c.250G= (p.Val84=) n.102G= c.166G= (p.Val56=) | |
| 12 | g.20858462G>T | CA384098817 | SLCO1B3,SLCO1B3-SLCO1B7 | c.250G>T (p.Val84Leu) n.102G>T c.166G>T (p.Val56Leu) | |
| 12 | g.20858463T>A | CA384098820 | SLCO1B3,SLCO1B3-SLCO1B7 | c.251T>A (p.Val84Glu) n.103T>A c.167T>A (p.Val56Glu) | |
| 12 | g.20858463T>C | CA384098822 | SLCO1B3,SLCO1B3-SLCO1B7 | c.251T>C (p.Val84Ala) n.103T>C c.167T>C (p.Val56Ala) | |
| 12 | g.20858463T>G | CA384098823 | SLCO1B3,SLCO1B3-SLCO1B7 | c.251T>G (p.Val84Gly) n.103T>G c.167T>G (p.Val56Gly) |