| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20858453_20858459delinsATTGTAT | CA2020843379 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241_247delinsATTGTAT (p.Ile81=) n.93_99delinsATTGTAT c.157_163delinsATTGTAT (p.Ile53=) | |
| 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.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) | |
| 12 | g.20858464A>C | CA478862109 | SLCO1B3,SLCO1B3-SLCO1B7 | c.252A>C (p.Val84=) n.104A>C c.168A>C (p.Val56=) | |
| 12 | g.20858464A>G | CA478862110 | SLCO1B3,SLCO1B3-SLCO1B7 | c.252A>G (p.Val84=) n.104A>G c.168A>G (p.Val56=) | |
| 12 | g.20858464A>T | CA478862111 | SLCO1B3,SLCO1B3-SLCO1B7 | c.252A>T (p.Val84=) n.104A>T c.168A>T (p.Val56=) | |
| 12 | g.20858465A>C | CA384098826 | SLCO1B3,SLCO1B3-SLCO1B7 | c.253A>C (p.Ser85Arg) n.105A>C c.169A>C (p.Ser57Arg) | |
| 12 | g.20858465A>G | CA384098828 | SLCO1B3,SLCO1B3-SLCO1B7 | c.253A>G (p.Ser85Gly) n.105A>G c.169A>G (p.Ser57Gly) | |
| 12 | g.20858465A>T | CA384098829 | SLCO1B3,SLCO1B3-SLCO1B7 | c.253A>T (p.Ser85Cys) n.105A>T c.169A>T (p.Ser57Cys) | |
| 12 | g.20858466G>A | CA384098830 | SLCO1B3,SLCO1B3-SLCO1B7 | c.254G>A (p.Ser85Asn) n.106G>A c.170G>A (p.Ser57Asn) | |
| 12 | g.20858466G>C | CA384098832 | SLCO1B3,SLCO1B3-SLCO1B7 | c.254G>C (p.Ser85Thr) n.106G>C c.170G>C (p.Ser57Thr) | |
| 12 | g.20858466G>T | CA384098833 | SLCO1B3,SLCO1B3-SLCO1B7 | c.254G>T (p.Ser85Ile) n.106G>T c.170G>T (p.Ser57Ile) | |
| 12 | g.20858467T>A | CA384098834 | SLCO1B3,SLCO1B3-SLCO1B7 | c.255T>A (p.Ser85Arg) n.107T>A c.171T>A (p.Ser57Arg) | |
| 12 | g.20858467T>C | CA478862112 | SLCO1B3,SLCO1B3-SLCO1B7 | c.255T>C (p.Ser85=) n.107T>C c.171T>C (p.Ser57=) | COSMIC |
| 12 | g.20858467T>G | CA6475120 | SLCO1B3,SLCO1B3-SLCO1B7 | c.255T>G (p.Ser85Arg) n.107T>G c.171T>G (p.Ser57Arg) | dbSNP ExAC gnomAD |
| 12 | g.20858467T= | CA2020843383 | SLCO1B3,SLCO1B3-SLCO1B7 | c.255T= (p.Ser85=) n.107T= c.171T= (p.Ser57=) | |
| 12 | g.20858468T>A | CA384098840 | SLCO1B3,SLCO1B3-SLCO1B7 | c.256T>A (p.Tyr86Asn) n.108T>A c.172T>A (p.Tyr58Asn) | |
| 12 | g.20858468T>C | CA384098836 | SLCO1B3,SLCO1B3-SLCO1B7 | c.256T>C (p.Tyr86His) n.108T>C c.172T>C (p.Tyr58His) | |
| 12 | g.20858468T>G | CA384098838 | SLCO1B3,SLCO1B3-SLCO1B7 | c.256T>G (p.Tyr86Asp) n.108T>G c.172T>G (p.Tyr58Asp) | |
| 12 | g.20858469A>C | CA384098843 | SLCO1B3,SLCO1B3-SLCO1B7 | c.257A>C (p.Tyr86Ser) n.109A>C c.173A>C (p.Tyr58Ser) | |
| 12 | g.20858469A>G | CA384098845 | SLCO1B3,SLCO1B3-SLCO1B7 | c.257A>G (p.Tyr86Cys) n.109A>G c.173A>G (p.Tyr58Cys) | |
| 12 | g.20858469A>T | CA384098846 | SLCO1B3,SLCO1B3-SLCO1B7 | c.257A>T (p.Tyr86Phe) n.109A>T c.173A>T (p.Tyr58Phe) | |
| 12 | g.20858470C>A | CA384098849 | SLCO1B3,SLCO1B3-SLCO1B7 | c.258C>A (p.Tyr86Ter) n.110C>A c.174C>A (p.Tyr58Ter) | |
| 12 | g.20858470C>G | CA384098850 | SLCO1B3,SLCO1B3-SLCO1B7 | c.258C>G (p.Tyr86Ter) n.110C>G c.174C>G (p.Tyr58Ter) |