| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21176888G>A | CA384104973 | SLCO1B1 | c.472G>A (p.Val158Met) c.538G>A | gnomAD v4 |
| 12 | g.21176888G>C | CA384104974 | SLCO1B1 | c.472G>C (p.Val158Leu) c.538G>C | |
| 12 | g.21176888G>T | CA384104975 | SLCO1B1 | c.472G>T (p.Val158Leu) c.538G>T | |
| 12 | g.21176889del | CA2617896192 | SLCO1B1 | c.473del (p.Val158GlyfsTer6) c.539del | gnomAD v4 |
| 12 | g.21176889T>A | CA384104976 | SLCO1B1 | c.473T>A (p.Val158Glu) c.539T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176889T>C | CA384104977 | SLCO1B1 | c.473T>C (p.Val158Ala) c.539T>C | COSMIC |
| 12 | g.21176889T>G | CA384104978 | SLCO1B1 | c.473T>G (p.Val158Gly) c.539T>G | |
| 12 | g.21176889T= | CA2020990633 | SLCO1B1 | c.473T= (p.Val158=) c.539T= | |
| 12 | g.21176890G>A | CA6476692 | SLCO1B1 | c.474G>A (p.Val158=) c.540G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176890G>C | CA478866944 | SLCO1B1 | c.474G>C (p.Val158=) c.540G>C | |
| 12 | g.21176890G= | CA2020990634 | SLCO1B1 | c.474G= (p.Val158=) c.540G= | |
| 12 | g.21176890G>T | CA478866945 | SLCO1B1 | c.474G>T (p.Val158=) c.540G>T | |
| 12 | g.21176891G>A | CA384104979 | SLCO1B1 | c.475G>A (p.Gly159Arg) c.541G>A | gnomAD v4 |
| 12 | g.21176891G>C | CA384104980 | SLCO1B1 | c.475G>C (p.Gly159Arg) c.541G>C | gnomAD v4 |
| 12 | g.21176891G>T | CA384104981 | SLCO1B1 | c.475G>T (p.Gly159Ter) c.541G>T | |
| 12 | g.21176892G>A | CA384104984 | SLCO1B1 | c.476G>A (p.Gly159Glu) c.542G>A | gnomAD v4 COSMIC |
| 12 | g.21176892G>C | CA384104983 | SLCO1B1 | c.476G>C (p.Gly159Ala) c.542G>C | |
| 12 | g.21176892G>T | CA384104982 | SLCO1B1 | c.476G>T (p.Gly159Val) c.542G>T | |
| 12 | g.21176893A>C | CA478866950 | SLCO1B1 | c.477A>C (p.Gly159=) c.543A>C | |
| 12 | g.21176893A>G | CA478866951 | SLCO1B1 | c.477A>G (p.Gly159=) c.543A>G | gnomAD v4 |
| 12 | g.21176893A>T | CA478866953 | SLCO1B1 | c.477A>T (p.Gly159=) c.543A>T | |
| 12 | g.21176896del | CA645571485 | SLCO1B1 | c.480del (p.Gly161ValfsTer3) | gnomAD v4 COSMIC |
| 12 | g.21176894A>C | CA384104985 | SLCO1B1 | c.478A>C (p.Lys160Gln) c.544A>C | |
| 12 | g.21176894A>G | CA384104986 | SLCO1B1 | c.478A>G (p.Lys160Glu) c.544A>G | gnomAD v4 |
| 12 | g.21176894A>T | CA384104987 | SLCO1B1 | c.478A>T (p.Lys160Ter) c.544A>T | |
| 12 | g.21176895A>C | CA384104988 | SLCO1B1 | c.479A>C (p.Lys160Thr) c.545A>C | |
| 12 | g.21176895A>G | CA384104989 | SLCO1B1 | c.479A>G (p.Lys160Arg) c.545A>G | gnomAD v4 |
| 12 | g.21176895A>T | CA384104990 | SLCO1B1 | c.479A>T (p.Lys160Ile) c.545A>T | COSMIC |
| 12 | g.21176896A>C | CA384104992 | SLCO1B1 | c.480A>C (p.Lys160Asn) | |
| 12 | g.21176896A>G | CA478866959 | SLCO1B1 | c.480A>G (p.Lys160=) | gnomAD v4 |
| 12 | g.21176896A>T | CA384104991 | SLCO1B1 | c.480A>T (p.Lys160Asn) | gnomAD v4 |
| 12 | g.21176897G>A | CA6476693 | SLCO1B1 | c.481G>A (p.Gly161Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21176897G>C | CA384104993 | SLCO1B1 | c.481G>C (p.Gly161Arg) | |
| 12 | g.21176897G= | CA2020990635 | SLCO1B1 | c.481G= (p.Gly161=) | |
| 12 | g.21176897G>T | CA384104994 | SLCO1B1 | c.481G>T (p.Gly161Cys) | |
| 12 | g.21176898del | CA2617896194 | SLCO1B1 | c.481+1del | gnomAD v4 |
| 12 | g.21176898G>A | CA384104995 | SLCO1B1 | c.481+1G>A (n.481+1G>A) | gnomAD v4 |
| 12 | g.21176898G>C | CA384104996 | SLCO1B1 | c.481+1G>C (n.481+1G>C) | |
| 12 | g.21176898G= | CA2020990636 | SLCO1B1 | c.481+1G= (n.481+1G=) | |
| 12 | g.21176898G>T | CA6476694 | SLCO1B1 | c.481+1G>T (n.481+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176899T>A | CA384104997 | SLCO1B1 | c.481+2T>A (n.481+2T>A) | |
| 12 | g.21176899T>C | CA384104999 | SLCO1B1 | c.481+2T>C (n.481+2T>C) | |
| 12 | g.21176899T>G | CA384104998 | SLCO1B1 | c.481+2T>G (n.481+2T>G) | |
| 12 | g.21176900A= | CA2020990637 | SLCO1B1 | c.481+3A= (n.481+3A=) | |
| 12 | g.21176900A>G | CA686354550 | SLCO1B1 | c.481+3A>G (n.481+3A>G) | dbSNP |
| 12 | g.21176901del | CA2617896200 | SLCO1B1 | c.481+4del (n.481+4del) | gnomAD v4 |
| 12 | g.21176901A>G | CA2617896201 | SLCO1B1 | c.481+4A>G (n.481+4A>G) | gnomAD v4 |
| 12 | g.21176903A>T | CA2617896202 | SLCO1B1 | c.481+6A>T (n.481+6A>T) | gnomAD v4 |
| 12 | g.21176904A= | CA2020990638 | SLCO1B1 | c.481+7A= (n.481+7A=) | |
| 12 | g.21176904A>G | CA6476695 | SLCO1B1 | c.481+7A>G (n.481+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |