Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21176802T>A | CA384104794 | SLCO1B1 | c.386T>A (p.Ile129Asn) c.452T>A | gnomAD v4 |
12 | g.21176802T>C | CA384104795 | SLCO1B1 | c.386T>C (p.Ile129Thr) c.452T>C | gnomAD v4 |
12 | g.21176802T>G | CA384104796 | SLCO1B1 | c.386T>G (p.Ile129Ser) c.452T>G | |
12 | g.21176803C>A | CA478866762 | SLCO1B1 | c.387C>A (p.Ile129=) c.453C>A | gnomAD v4 |
12 | g.21176803C>G | CA384104797 | SLCO1B1 | c.387C>G (p.Ile129Met) c.453C>G | |
12 | g.21176803C>T | CA478866763 | SLCO1B1 | c.387C>T (p.Ile129=) c.453C>T | dbSNP gnomAD v4 COSMIC |
12 | g.21176804A= | CA1630855540 | SLCO1B1 | c.388A= (p.Asn130=) c.454A= | |
12 | g.21176804A>C | CA384104798 | SLCO1B1 | c.388A>C (p.Asn130His) c.454A>C | dbSNP gnomAD v4 |
12 | g.21176804A>G | CA6476674 | SLCO1B1 | c.388A>G (p.Asn130Asp) c.454A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176804A>T | CA384104799 | SLCO1B1 | c.388A>T (p.Asn130Tyr) c.454A>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176804_21176805del | CA2617896114 | SLCO1B1 | c.388_389del (p.Asn130PhefsTer15) c.454_455del | gnomAD v4 |
12 | g.21176804_21176805insG | CA945497069 | SLCO1B1 | c.388_389insG (p.Asn130ArgfsTer16) c.454_455insG | gnomAD v3 gnomAD v4 |
12 | g.21176805A>C | CA384104800 | SLCO1B1 | c.389A>C (p.Asn130Thr) c.455A>C | |
12 | g.21176805A>G | CA384104801 | SLCO1B1 | c.389A>G (p.Asn130Ser) c.455A>G | gnomAD v4 |
12 | g.21176805A>T | CA384104802 | SLCO1B1 | c.389A>T (p.Asn130Ile) c.455A>T | |
12 | g.21176806T>A | CA384104803 | SLCO1B1 | c.390T>A (p.Asn130Lys) c.456T>A | |
12 | g.21176806T>C | CA478866765 | SLCO1B1 | c.390T>C (p.Asn130=) c.456T>C | gnomAD v4 |
12 | g.21176806T>G | CA384104804 | SLCO1B1 | c.390T>G (p.Asn130Lys) c.456T>G | COSMIC |
12 | g.21176807T>A | CA384104805 | SLCO1B1 | c.391T>A (p.Ser131Thr) c.457T>A | |
12 | g.21176807T>C | CA384104806 | SLCO1B1 | c.391T>C (p.Ser131Pro) c.457T>C | gnomAD v4 |
12 | g.21176807T>G | CA384104807 | SLCO1B1 | c.391T>G (p.Ser131Ala) c.457T>G | |
12 | g.21176808C>A | CA384104808 | SLCO1B1 | c.392C>A (p.Ser131Ter) c.458C>A | gnomAD v4 |
12 | g.21176808C>G | CA384104809 | SLCO1B1 | c.392C>G (p.Ser131Ter) c.458C>G | |
12 | g.21176808C>T | CA384104810 | SLCO1B1 | c.392C>T (p.Ser131Leu) c.458C>T | COSMIC |
12 | g.21176809A= | CA2020990596 | SLCO1B1 | c.393A= (p.Ser131=) c.459A= | |
12 | g.21176809A>C | CA478866768 | SLCO1B1 | c.393A>C (p.Ser131=) c.459A>C | |
12 | g.21176809A>G | CA6476675 | SLCO1B1 | c.393A>G (p.Ser131=) c.459A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176809A>T | CA478866766 | SLCO1B1 | c.393A>T (p.Ser131=) c.459A>T | |
12 | g.21176810T>A | CA384104811 | SLCO1B1 | c.394T>A (p.Ser132Thr) c.460T>A | |
12 | g.21176810T>C | CA384104812 | SLCO1B1 | c.394T>C (p.Ser132Pro) c.460T>C | |
12 | g.21176810T>G | CA384104813 | SLCO1B1 | c.394T>G (p.Ser132Ala) c.460T>G | |
12 | g.21176811C>A | CA384104815 | SLCO1B1 | c.395C>A (p.Ser132Ter) c.461C>A | gnomAD v4 |
12 | g.21176811C= | CA2020990597 | SLCO1B1 | c.395C= (p.Ser132=) c.461C= | |
12 | g.21176811C>G | CA384104814 | SLCO1B1 | c.395C>G (p.Ser132Ter) c.461C>G | |
12 | g.21176811C>T | CA6476676 | SLCO1B1 | c.395C>T (p.Ser132Leu) c.461C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176812A>C | CA478866772 | SLCO1B1 | c.396A>C (p.Ser132=) c.462A>C | gnomAD v4 |
12 | g.21176812A>G | CA478866773 | SLCO1B1 | c.396A>G (p.Ser132=) c.462A>G | |
12 | g.21176812A>T | CA478866775 | SLCO1B1 | c.396A>T (p.Ser132=) c.462A>T | |
12 | g.21176813G>A | CA384104816 | SLCO1B1 | c.397G>A (p.Glu133Lys) c.463G>A | gnomAD v4 |
12 | g.21176813G>C | CA384104817 | SLCO1B1 | c.397G>C (p.Glu133Gln) c.463G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176813G= | CA2020990598 | SLCO1B1 | c.397G= (p.Glu133=) c.463G= | |
12 | g.21176813G>T | CA384104818 | SLCO1B1 | c.397G>T (p.Glu133Ter) c.463G>T | COSMIC |
12 | g.21176814A>C | CA384104819 | SLCO1B1 | c.398A>C (p.Glu133Ala) c.464A>C | |
12 | g.21176814A>G | CA384104820 | SLCO1B1 | c.398A>G (p.Glu133Gly) c.464A>G | gnomAD v4 |
12 | g.21176814A>T | CA384104821 | SLCO1B1 | c.398A>T (p.Glu133Val) c.464A>T | |
12 | g.21176817dup | CA686354349 | SLCO1B1 | c.401dup (p.Asn134LysfsTer12) c.467dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176815A>C | CA384104822 | SLCO1B1 | c.399A>C (p.Glu133Asp) c.465A>C | |
12 | g.21176815A>G | CA478866779 | SLCO1B1 | c.399A>G (p.Glu133=) c.465A>G | gnomAD v4 |
12 | g.21176815A>T | CA384104823 | SLCO1B1 | c.399A>T (p.Glu133Asp) c.465A>T | |
12 | g.21176816A>C | CA384104824 | SLCO1B1 | c.400A>C (p.Asn134His) c.466A>C |