| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20858557T>A | CA384099241 | SLCO1B3,SLCO1B3-SLCO1B7 | c.345T>A (p.His115Gln) n.197T>A c.261T>A (p.His87Gln) | |
| 12 | g.20858557T>C | CA478862233 | SLCO1B3,SLCO1B3-SLCO1B7 | c.345T>C (p.His115=) n.197T>C c.261T>C (p.His87=) | |
| 12 | g.20858557T>G | CA384099242 | SLCO1B3,SLCO1B3-SLCO1B7 | c.345T>G (p.His115Gln) n.197T>G c.261T>G (p.His87Gln) | |
| 12 | g.20858559dup | CA6475138 | SLCO1B3,SLCO1B3-SLCO1B7 | c.347dup (p.Phe117LeufsTer6) c.347dup (p.Phe117LeufsTer9) n.199dup c.263dup (p.Phe89LeufsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858558T>A | CA384099245 | SLCO1B3,SLCO1B3-SLCO1B7 | c.346T>A (p.Phe116Ile) n.198T>A c.262T>A (p.Phe88Ile) | |
| 12 | g.20858558T>C | CA384099246 | SLCO1B3,SLCO1B3-SLCO1B7 | c.346T>C (p.Phe116Leu) n.198T>C c.262T>C (p.Phe88Leu) | gnomAD v4 |
| 12 | g.20858558T>G | CA384099249 | SLCO1B3,SLCO1B3-SLCO1B7 | c.346T>G (p.Phe116Val) n.198T>G c.262T>G (p.Phe88Val) | |
| 12 | g.20858559T>A | CA384099251 | SLCO1B3,SLCO1B3-SLCO1B7 | c.347T>A (p.Phe116Tyr) n.199T>A c.263T>A (p.Phe88Tyr) | gnomAD v4 |
| 12 | g.20858559T>C | CA384099253 | SLCO1B3,SLCO1B3-SLCO1B7 | c.347T>C (p.Phe116Ser) n.199T>C c.263T>C (p.Phe88Ser) | |
| 12 | g.20858559T>G | CA384099254 | SLCO1B3,SLCO1B3-SLCO1B7 | c.347T>G (p.Phe116Cys) n.199T>G c.263T>G (p.Phe88Cys) | |
| 12 | g.20858560C>A | CA384099257 | SLCO1B3,SLCO1B3-SLCO1B7 | c.348C>A (p.Phe116Leu) n.200C>A c.264C>A (p.Phe88Leu) | gnomAD v4 |
| 12 | g.20858560C= | CA2020843424 | SLCO1B3,SLCO1B3-SLCO1B7 | c.348C= (p.Phe116=) n.200C= c.264C= (p.Phe88=) | |
| 12 | g.20858560C>G | CA384099259 | SLCO1B3,SLCO1B3-SLCO1B7 | c.348C>G (p.Phe116Leu) n.200C>G c.264C>G (p.Phe88Leu) | |
| 12 | g.20858560C>T | CA478862235 | SLCO1B3,SLCO1B3-SLCO1B7 | c.348C>T (p.Phe116=) n.200C>T c.264C>T (p.Phe88=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.20858561T>A | CA384099265 | SLCO1B3,SLCO1B3-SLCO1B7 | c.349T>A (p.Phe117Ile) n.201T>A c.265T>A (p.Phe89Ile) | |
| 12 | g.20858561T>C | CA384099263 | SLCO1B3,SLCO1B3-SLCO1B7 | c.349T>C (p.Phe117Leu) n.201T>C c.265T>C (p.Phe89Leu) | |
| 12 | g.20858561T>G | CA384099261 | SLCO1B3,SLCO1B3-SLCO1B7 | c.349T>G (p.Phe117Val) n.201T>G c.265T>G (p.Phe89Val) | COSMIC |
| 12 | g.20858562T>A | CA384099267 | SLCO1B3,SLCO1B3-SLCO1B7 | c.350T>A (p.Phe117Tyr) n.202T>A c.266T>A (p.Phe89Tyr) | |
| 12 | g.20858562T>C | CA384099269 | SLCO1B3,SLCO1B3-SLCO1B7 | c.350T>C (p.Phe117Ser) n.202T>C c.266T>C (p.Phe89Ser) | COSMIC |
| 12 | g.20858562T>G | CA384099271 | SLCO1B3,SLCO1B3-SLCO1B7 | c.350T>G (p.Phe117Cys) n.202T>G c.266T>G (p.Phe89Cys) | |
| 12 | g.20858563C>A | CA384099272 | SLCO1B3,SLCO1B3-SLCO1B7 | c.351C>A (p.Phe117Leu) n.203C>A c.267C>A (p.Phe89Leu) | |
| 12 | g.20858563C= | CA2020843425 | SLCO1B3,SLCO1B3-SLCO1B7 | c.351C= (p.Phe117=) n.203C= c.267C= (p.Phe89=) | |
| 12 | g.20858563C>G | CA384099273 | SLCO1B3,SLCO1B3-SLCO1B7 | c.351C>G (p.Phe117Leu) n.203C>G c.267C>G (p.Phe89Leu) | |
| 12 | g.20858563C>T | CA6475139 | SLCO1B3,SLCO1B3-SLCO1B7 | c.351C>T (p.Phe117=) n.203C>T c.267C>T (p.Phe89=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.20858564A>C | CA384099276 | SLCO1B3,SLCO1B3-SLCO1B7 | c.352A>C (p.Met118Leu) n.204A>C c.268A>C (p.Met90Leu) | |
| 12 | g.20858564A>G | CA384099278 | SLCO1B3,SLCO1B3-SLCO1B7 | c.352A>G (p.Met118Val) n.204A>G c.268A>G (p.Met90Val) | gnomAD v4 |
| 12 | g.20858564A>T | CA384099279 | SLCO1B3,SLCO1B3-SLCO1B7 | c.352A>T (p.Met118Leu) n.204A>T c.268A>T (p.Met90Leu) | |
| 12 | g.20858565T>A | CA384099282 | SLCO1B3,SLCO1B3-SLCO1B7 | c.353T>A (p.Met118Lys) n.205T>A c.269T>A (p.Met90Lys) | |
| 12 | g.20858565T>C | CA384099284 | SLCO1B3,SLCO1B3-SLCO1B7 | c.353T>C (p.Met118Thr) n.205T>C c.269T>C (p.Met90Thr) | dbSNP |
| 12 | g.20858565T>G | CA384099285 | SLCO1B3,SLCO1B3-SLCO1B7 | c.353T>G (p.Met118Arg) n.205T>G c.269T>G (p.Met90Arg) | |
| 12 | g.20858565T= | CA2020843426 | SLCO1B3,SLCO1B3-SLCO1B7 | c.353T= (p.Met118=) n.205T= c.269T= (p.Met90=) | |
| 12 | g.20858566G>A | CA384099288 | SLCO1B3,SLCO1B3-SLCO1B7 | c.354G>A (p.Met118Ile) n.206G>A c.270G>A (p.Met90Ile) | |
| 12 | g.20858566G>C | CA384099291 | SLCO1B3,SLCO1B3-SLCO1B7 | c.354G>C (p.Met118Ile) n.206G>C c.270G>C (p.Met90Ile) | |
| 12 | g.20858566G>T | CA384099287 | SLCO1B3,SLCO1B3-SLCO1B7 | c.354G>T (p.Met118Ile) n.206G>T c.270G>T (p.Met90Ile) | |
| 12 | g.20858568del | CA2617888010 | SLCO1B3,SLCO1B3-SLCO1B7 | c.356del (p.Gly119AspfsTer25) n.208del c.272del (p.Gly91AspfsTer25) | gnomAD v4 |
| 12 | g.20858567G>A | CA384099295 | SLCO1B3,SLCO1B3-SLCO1B7 | c.355G>A (p.Gly119Arg) n.207G>A c.271G>A (p.Gly91Arg) | gnomAD v4 COSMIC |
| 12 | g.20858567G>C | CA384099293 | SLCO1B3,SLCO1B3-SLCO1B7 | c.355G>C (p.Gly119Arg) n.207G>C c.271G>C (p.Gly91Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.20858567G= | CA2020843427 | SLCO1B3,SLCO1B3-SLCO1B7 | c.355G= (p.Gly119=) n.207G= c.271G= (p.Gly91=) | |
| 12 | g.20858567G>T | CA384099297 | SLCO1B3,SLCO1B3-SLCO1B7 | c.355G>T (p.Gly119Ter) n.207G>T c.271G>T (p.Gly91Ter) | gnomAD v4 |
| 12 | g.20858568G>A | CA384099300 | SLCO1B3,SLCO1B3-SLCO1B7 | c.356G>A (p.Gly119Glu) n.208G>A c.272G>A (p.Gly91Glu) | dbSNP gnomAD v4 |
| 12 | g.20858568G>C | CA384099301 | SLCO1B3,SLCO1B3-SLCO1B7 | c.356G>C (p.Gly119Ala) n.208G>C c.272G>C (p.Gly91Ala) | |
| 12 | g.20858568G= | CA2020843428 | SLCO1B3,SLCO1B3-SLCO1B7 | c.356G= (p.Gly119=) n.208G= c.272G= (p.Gly91=) | |
| 12 | g.20858568G>T | CA384099303 | SLCO1B3,SLCO1B3-SLCO1B7 | c.356G>T (p.Gly119Val) n.208G>T c.272G>T (p.Gly91Val) | gnomAD v4 |
| 12 | g.20858569A= | CA2020843429 | SLCO1B3,SLCO1B3-SLCO1B7 | c.357A= (p.Gly119=) n.209A= c.273A= (p.Gly91=) | |
| 12 | g.20858569A>C | CA478862241 | SLCO1B3,SLCO1B3-SLCO1B7 | c.357A>C (p.Gly119=) n.209A>C c.273A>C (p.Gly91=) | |
| 12 | g.20858569A>G | CA478862242 | SLCO1B3,SLCO1B3-SLCO1B7 | c.357A>G (p.Gly119=) n.209A>G c.273A>G (p.Gly91=) | gnomAD v4 |
| 12 | g.20858569A>T | CA6475140 | SLCO1B3,SLCO1B3-SLCO1B7 | c.357A>T (p.Gly119=) n.209A>T c.273A>T (p.Gly91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858570T>A | CA384099306 | SLCO1B3,SLCO1B3-SLCO1B7 | c.358T>A (p.Tyr120Asn) n.210T>A c.274T>A (p.Tyr92Asn) | |
| 12 | g.20858570T>C | CA6475141 | SLCO1B3,SLCO1B3-SLCO1B7 | c.358T>C (p.Tyr120His) n.210T>C c.274T>C (p.Tyr92His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858570T>G | CA384099308 | SLCO1B3,SLCO1B3-SLCO1B7 | c.358T>G (p.Tyr120Asp) n.210T>G c.274T>G (p.Tyr92Asp) |