| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21200488_21200495del | CA2617895491 | SLCO1B1 | c.971-20_971-13del (n.971-20_971-13del) | gnomAD v4 |
| 12 | g.21200495del | CA2617895497 | SLCO1B1 | c.971-13del (n.971-13del) | gnomAD v4 |
| 12 | g.21200495T>C | CA2557199361 | SLCO1B1 | c.971-13T>C (n.971-13T>C) | |
| 12 | g.21200497C>A | CA2617895508 | SLCO1B1 | c.971-11C>A (n.971-11C>A) | gnomAD v4 |
| 12 | g.21200497C>T | CA2575096412 | SLCO1B1 | c.971-11C>T (n.971-11C>T) | gnomAD v4 |
| 12 | g.21200498A= | CA2021001379 | SLCO1B1 | c.971-10A= (n.971-10A=) | |
| 12 | g.21200498A>T | CA2021001380 | SLCO1B1 | c.971-10A>T (n.971-10A>T) | dbSNP gnomAD v4 |
| 12 | g.21200499A= | CA2021001381 | SLCO1B1 | c.971-9A= (n.971-9A=) | |
| 12 | g.21200499A>G | CA6476878 | SLCO1B1 | c.971-9A>G (n.971-9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21200500T>C | CA2617895513 | SLCO1B1 | c.971-8T>C (n.971-8T>C) | gnomAD v4 |
| 12 | g.21200503del | CA2617895511 | SLCO1B1 | c.971-5del (n.971-5del) | gnomAD v4 |
| 12 | g.21200501T>C | CA2617895515 | SLCO1B1 | c.971-7T>C (n.971-7T>C) | gnomAD v4 |
| 12 | g.21200501T>G | CA6476879 | SLCO1B1 | c.971-7T>G (n.971-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21200501T= | CA2021001382 | SLCO1B1 | c.971-7T= (n.971-7T=) | |
| 12 | g.21200503T>C | CA945475940 | SLCO1B1 | c.971-5T>C (n.971-5T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21200503T= | CA2021001383 | SLCO1B1 | c.971-5T= (n.971-5T=) | |
| 12 | g.21200504A>T | CA2617895520 | SLCO1B1 | c.971-4A>T (n.971-4A>T) | gnomAD v4 |
| 12 | g.21200505C>T | CA2617895523 | SLCO1B1 | c.971-3C>T (n.971-3C>T) | dbSNP gnomAD v4 |
| 12 | g.21200506A>C | CA384106474 | SLCO1B1 | c.971-2A>C (n.971-2A>C) | |
| 12 | g.21200506A>G | CA384106475 | SLCO1B1 | c.971-2A>G (n.971-2A>G) | gnomAD v4 |
| 12 | g.21200506A>T | CA384106476 | SLCO1B1 | c.971-2A>T (n.971-2A>T) | gnomAD v4 |
| 12 | g.21200507G>A | CA384106479 | SLCO1B1 | c.971-1G>A (n.971-1G>A) | gnomAD v4 |
| 12 | g.21200507G>C | CA384106477 | SLCO1B1 | c.971-1G>C (n.971-1G>C) | |
| 12 | g.21200507G>T | CA384106478 | SLCO1B1 | c.971-1G>T (n.971-1G>T) | gnomAD v4 |
| 12 | g.21200508G>A | CA384106480 | SLCO1B1 | c.971G>A (p.Gly324Asp) | gnomAD v4 |
| 12 | g.21200508G>C | CA384106481 | SLCO1B1 | c.971G>C (p.Gly324Ala) | |
| 12 | g.21200508G= | CA2021001385 | SLCO1B1 | c.971G= (p.Gly324=) | |
| 12 | g.21200508G>T | CA384106482 | SLCO1B1 | c.971G>T (p.Gly324Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21200508_21200509delinsGT | CA2021001384 | SLCO1B1 | c.971_972delinsGT (p.Gly324=) | |
| 12 | g.21200509T>A | CA478864265 | SLCO1B1 | c.972T>A (p.Gly324=) | |
| 12 | g.21200509T>C | CA478864263 | SLCO1B1 | c.972T>C (p.Gly324=) | |
| 12 | g.21200509T>G | CA478864264 | SLCO1B1 | c.972T>G (p.Gly324=) | |
| 12 | g.21200514dup | CA6476880 | SLCO1B1 | c.977dup (p.Gln327ProfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21200514del | CA6476881 | SLCO1B1 | c.977del (p.Phe326SerfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.21200510T>A | CA384106483 | SLCO1B1 | c.973T>A (p.Phe325Ile) | |
| 12 | g.21200510T>C | CA384106485 | SLCO1B1 | c.973T>C (p.Phe325Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21200510T>G | CA384106484 | SLCO1B1 | c.973T>G (p.Phe325Val) | |
| 12 | g.21200510T= | CA2021001386 | SLCO1B1 | c.973T= (p.Phe325=) | |
| 12 | g.21200511T>A | CA384106486 | SLCO1B1 | c.974T>A (p.Phe325Tyr) | |
| 12 | g.21200511T>C | CA384106487 | SLCO1B1 | c.974T>C (p.Phe325Ser) | dbSNP |
| 12 | g.21200511T>G | CA384106488 | SLCO1B1 | c.974T>G (p.Phe325Cys) | |
| 12 | g.21200511T= | CA2021001387 | SLCO1B1 | c.974T= (p.Phe325=) | |
| 12 | g.21200512T>A | CA384106489 | SLCO1B1 | c.975T>A (p.Phe325Leu) | |
| 12 | g.21200512T>C | CA478864266 | SLCO1B1 | c.975T>C (p.Phe325=) | |
| 12 | g.21200512T>G | CA384106490 | SLCO1B1 | c.975T>G (p.Phe325Leu) | |
| 12 | g.21200513T>A | CA384106491 | SLCO1B1 | c.976T>A (p.Phe326Ile) | |
| 12 | g.21200513T>C | CA384106492 | SLCO1B1 | c.976T>C (p.Phe326Leu) | gnomAD v4 |
| 12 | g.21200513T>G | CA384106493 | SLCO1B1 | c.976T>G (p.Phe326Val) | |
| 12 | g.21200514T>A | CA384106494 | SLCO1B1 | c.977T>A (p.Phe326Tyr) | gnomAD v4 |
| 12 | g.21200514T>C | CA384106495 | SLCO1B1 | c.977T>C (p.Phe326Ser) |