Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.20862745A= | CA2020845702 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-11A= (n.629-11A=) c.359+4174A= (n.359+4174A=) c.101-11A= (n.101-11A=) c.545-11A= (n.545-11A=) | |
12 | g.20862745A>G | CA6475278 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-11A>G (n.629-11A>G) c.359+4174A>G (n.359+4174A>G) c.101-11A>G (n.101-11A>G) c.545-11A>G (n.545-11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862746del | CA2575095615 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-10del (n.629-10del) c.359+4175del (n.359+4175del) c.101-10del (n.101-10del) c.545-10del (n.545-10del) | |
12 | g.20862746A= | CA2020845703 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-10A= (n.629-10A=) c.359+4175A= (n.359+4175A=) c.101-10A= (n.101-10A=) c.545-10A= (n.545-10A=) | |
12 | g.20862746A>G | CA6475279 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-10A>G (n.629-10A>G) c.359+4175A>G (n.359+4175A>G) c.101-10A>G (n.101-10A>G) c.545-10A>G (n.545-10A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862747T>C | CA2504311952 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-9T>C (n.629-9T>C) c.359+4176T>C (n.359+4176T>C) c.101-9T>C (n.101-9T>C) c.545-9T>C (n.545-9T>C) | gnomAD v4 |
12 | g.20862748A= | CA2020845704 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-8A= (n.629-8A=) c.359+4177A= (n.359+4177A=) c.101-8A= (n.101-8A=) c.545-8A= (n.545-8A=) | |
12 | g.20862748A>T | CA2020845705 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-8A>T (n.629-8A>T) c.359+4177A>T (n.359+4177A>T) c.101-8A>T (n.101-8A>T) c.545-8A>T (n.545-8A>T) | dbSNP gnomAD v4 |
12 | g.20862749C>A | CA2617889609 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-7C>A (n.629-7C>A) c.359+4178C>A (n.359+4178C>A) c.101-7C>A (n.101-7C>A) c.545-7C>A (n.545-7C>A) | gnomAD v4 |
12 | g.20862749C= | CA2020845706 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-7C= (n.629-7C=) c.359+4178C= (n.359+4178C=) c.101-7C= (n.101-7C=) c.545-7C= (n.545-7C=) | |
12 | g.20862749C>G | CA2592892266 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-7C>G (n.629-7C>G) c.359+4178C>G (n.359+4178C>G) c.101-7C>G (n.101-7C>G) c.545-7C>G (n.545-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.20862749C>T | CA233479587 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-7C>T (n.629-7C>T) c.359+4178C>T (n.359+4178C>T) c.101-7C>T (n.101-7C>T) c.545-7C>T (n.545-7C>T) | dbSNP |
12 | g.20862750T>G | CA603636662 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-6T>G (n.629-6T>G) c.359+4179T>G (n.359+4179T>G) c.101-6T>G (n.101-6T>G) c.545-6T>G (n.545-6T>G) | dbSNP gnomAD v2 |
12 | g.20862750T= | CA2020845707 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-6T= (n.629-6T=) c.359+4179T= (n.359+4179T=) c.101-6T= (n.101-6T=) c.545-6T= (n.545-6T=) | |
12 | g.20862751T>C | CA2020845709 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-5T>C (n.629-5T>C) c.359+4180T>C (n.359+4180T>C) c.101-5T>C (n.101-5T>C) c.545-5T>C (n.545-5T>C) | dbSNP |
12 | g.20862751T= | CA2020845708 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-5T= (n.629-5T=) c.359+4180T= (n.359+4180T=) c.101-5T= (n.101-5T=) c.545-5T= (n.545-5T=) | |
12 | g.20862752dup | CA6475280 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-4dup (n.629-4dup) c.359+4181dup (n.359+4181dup) c.101-4dup (n.101-4dup) c.545-4dup (n.545-4dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862753C>A | CA2617889624 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-3C>A (n.629-3C>A) c.359+4182C>A (n.359+4182C>A) c.101-3C>A (n.101-3C>A) c.545-3C>A (n.545-3C>A) | gnomAD v4 |
12 | g.20862753C= | CA2020845710 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-3C= (n.629-3C=) c.359+4182C= (n.359+4182C=) c.101-3C= (n.101-3C=) c.545-3C= (n.545-3C=) | |
12 | g.20862753C>G | CA603636665 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-3C>G (n.629-3C>G) c.359+4182C>G (n.359+4182C>G) c.101-3C>G (n.101-3C>G) c.545-3C>G (n.545-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862753C>T | CA2617889622 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-3C>T (n.629-3C>T) c.359+4182C>T (n.359+4182C>T) c.101-3C>T (n.101-3C>T) c.545-3C>T (n.545-3C>T) | gnomAD v4 |
12 | g.20862754A= | CA2020845711 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-2A= (n.629-2A=) c.359+4183A= (n.359+4183A=) c.101-2A= (n.101-2A=) c.545-2A= (n.545-2A=) | |
12 | g.20862754A>C | CA384092035 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-2A>C (n.629-2A>C) c.359+4183A>C (n.359+4183A>C) c.101-2A>C (n.101-2A>C) c.545-2A>C (n.545-2A>C) | |
12 | g.20862754A>G | CA384092036 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-2A>G (n.629-2A>G) c.359+4183A>G (n.359+4183A>G) c.101-2A>G (n.101-2A>G) c.545-2A>G (n.545-2A>G) | gnomAD v4 |
12 | g.20862754A>T | CA384092038 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-2A>T (n.629-2A>T) c.359+4183A>T (n.359+4183A>T) c.101-2A>T (n.101-2A>T) c.545-2A>T (n.545-2A>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862755G>A | CA6475281 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-1G>A (n.629-1G>A) c.359+4184G>A (n.359+4184G>A) c.101-1G>A (n.101-1G>A) c.545-1G>A (n.545-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.20862755G>C | CA233479589 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-1G>C (n.629-1G>C) c.359+4184G>C (n.359+4184G>C) c.101-1G>C (n.101-1G>C) c.545-1G>C (n.545-1G>C) | dbSNP |
12 | g.20862755G= | CA2020845712 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-1G= (n.629-1G=) c.359+4184G= (n.359+4184G=) c.101-1G= (n.101-1G=) c.545-1G= (n.545-1G=) | |
12 | g.20862755G>T | CA384092041 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629-1G>T (n.629-1G>T) c.359+4184G>T (n.359+4184G>T) c.101-1G>T (n.101-1G>T) c.545-1G>T (n.545-1G>T) | gnomAD v4 |
12 | g.20862756G>A | CA384092044 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629G>A (p.Gly210Asp) c.359+4185G>A (n.359+4185G>A) c.101G>A (p.Gly34Asp) c.545G>A (p.Gly182Asp) | gnomAD v4 |
12 | g.20862756G>C | CA384092045 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629G>C (p.Gly210Ala) c.359+4185G>C (n.359+4185G>C) c.101G>C (p.Gly34Ala) c.545G>C (p.Gly182Ala) | |
12 | g.20862756G>T | CA384092047 | SLCO1B3,SLCO1B3-SLCO1B7 | c.629G>T (p.Gly210Val) c.359+4185G>T (n.359+4185G>T) c.101G>T (p.Gly34Val) c.545G>T (p.Gly182Val) | |
12 | g.20862757T>A | CA478854976 | SLCO1B3,SLCO1B3-SLCO1B7 | c.630T>A (p.Gly210=) c.359+4186T>A (n.359+4186T>A) c.102T>A (p.Gly34=) c.546T>A (p.Gly182=) | |
12 | g.20862757T>C | CA478854977 | SLCO1B3,SLCO1B3-SLCO1B7 | c.630T>C (p.Gly210=) c.359+4186T>C (n.359+4186T>C) c.102T>C (p.Gly34=) c.546T>C (p.Gly182=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862757T>G | CA478854978 | SLCO1B3,SLCO1B3-SLCO1B7 | c.630T>G (p.Gly210=) c.359+4186T>G (n.359+4186T>G) c.102T>G (p.Gly34=) c.546T>G (p.Gly182=) | |
12 | g.20862757T= | CA2020845713 | SLCO1B3,SLCO1B3-SLCO1B7 | c.630T= (p.Gly210=) c.359+4186T= (n.359+4186T=) c.102T= (p.Gly34=) c.546T= (p.Gly182=) | |
12 | g.20862758A= | CA2020845714 | SLCO1B3,SLCO1B3-SLCO1B7 | c.631A= (p.Ser211=) c.359+4187A= (n.359+4187A=) c.103A= (p.Ser35=) c.547A= (p.Ser183=) | |
12 | g.20862758A>C | CA384092049 | SLCO1B3,SLCO1B3-SLCO1B7 | c.631A>C (p.Ser211Arg) c.359+4187A>C (n.359+4187A>C) c.103A>C (p.Ser35Arg) c.547A>C (p.Ser183Arg) | |
12 | g.20862758A>G | CA384092050 | SLCO1B3,SLCO1B3-SLCO1B7 | c.631A>G (p.Ser211Gly) c.359+4187A>G (n.359+4187A>G) c.103A>G (p.Ser35Gly) c.547A>G (p.Ser183Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862758A>T | CA384092052 | SLCO1B3,SLCO1B3-SLCO1B7 | c.631A>T (p.Ser211Cys) c.359+4187A>T (n.359+4187A>T) c.103A>T (p.Ser35Cys) c.547A>T (p.Ser183Cys) | |
12 | g.20862759G>A | CA6475282 | SLCO1B3,SLCO1B3-SLCO1B7 | c.632G>A (p.Ser211Asn) c.359+4188G>A (n.359+4188G>A) c.104G>A (p.Ser35Asn) c.548G>A (p.Ser183Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862759G>C | CA384092054 | SLCO1B3,SLCO1B3-SLCO1B7 | c.632G>C (p.Ser211Thr) c.359+4188G>C (n.359+4188G>C) c.104G>C (p.Ser35Thr) c.548G>C (p.Ser183Thr) | |
12 | g.20862759G= | CA2020845715 | SLCO1B3,SLCO1B3-SLCO1B7 | c.632G= (p.Ser211=) c.359+4188G= (n.359+4188G=) c.104G= (p.Ser35=) c.548G= (p.Ser183=) | |
12 | g.20862759G>T | CA384092056 | SLCO1B3,SLCO1B3-SLCO1B7 | c.632G>T (p.Ser211Ile) c.359+4188G>T (n.359+4188G>T) c.104G>T (p.Ser35Ile) c.548G>T (p.Ser183Ile) | |
12 | g.20862760T>A | CA384092058 | SLCO1B3,SLCO1B3-SLCO1B7 | c.633T>A (p.Ser211Arg) c.359+4189T>A (n.359+4189T>A) c.105T>A (p.Ser35Arg) c.549T>A (p.Ser183Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862760T>C | CA478854979 | SLCO1B3,SLCO1B3-SLCO1B7 | c.633T>C (p.Ser211=) c.359+4189T>C (n.359+4189T>C) c.105T>C (p.Ser35=) c.549T>C (p.Ser183=) | |
12 | g.20862760T>G | CA384092060 | SLCO1B3,SLCO1B3-SLCO1B7 | c.633T>G (p.Ser211Arg) c.359+4189T>G (n.359+4189T>G) c.105T>G (p.Ser35Arg) c.549T>G (p.Ser183Arg) | |
12 | g.20862760T= | CA2020845716 | SLCO1B3,SLCO1B3-SLCO1B7 | c.633T= (p.Ser211=) c.359+4189T= (n.359+4189T=) c.105T= (p.Ser35=) c.549T= (p.Ser183=) | |
12 | g.20862761T>A | CA384092062 | SLCO1B3,SLCO1B3-SLCO1B7 | c.634T>A (p.Leu212Met) c.359+4190T>A (n.359+4190T>A) c.106T>A (p.Leu36Met) c.550T>A (p.Leu184Met) | |
12 | g.20862761T>C | CA233479603 | SLCO1B3,SLCO1B3-SLCO1B7 | c.634T>C (p.Leu212=) c.359+4190T>C (n.359+4190T>C) c.106T>C (p.Leu36=) c.550T>C (p.Leu184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862761T>G | CA384092064 | SLCO1B3,SLCO1B3-SLCO1B7 | c.634T>G (p.Leu212Val) c.359+4190T>G (n.359+4190T>G) c.106T>G (p.Leu36Val) c.550T>G (p.Leu184Val) | COSMIC |
12 | g.20862761T= | CA2020845717 | SLCO1B3,SLCO1B3-SLCO1B7 | c.634T= (p.Leu212=) c.359+4190T= (n.359+4190T=) c.106T= (p.Leu36=) c.550T= (p.Leu184=) | |
12 | g.20862762T>A | CA384092070 | SLCO1B3,SLCO1B3-SLCO1B7 | c.635T>A (p.Leu212Ter) c.359+4191T>A (n.359+4191T>A) c.107T>A (p.Leu36Ter) c.551T>A (p.Leu184Ter) | |
12 | g.20862762T>C | CA384092068 | SLCO1B3,SLCO1B3-SLCO1B7 | c.635T>C (p.Leu212Ser) c.359+4191T>C (n.359+4191T>C) c.107T>C (p.Leu36Ser) c.551T>C (p.Leu184Ser) | |
12 | g.20862762T>G | CA384092067 | SLCO1B3,SLCO1B3-SLCO1B7 | c.635T>G (p.Leu212Trp) c.359+4191T>G (n.359+4191T>G) c.107T>G (p.Leu36Trp) c.551T>G (p.Leu184Trp) | |
12 | g.20862763G>A | CA478854980 | SLCO1B3,SLCO1B3-SLCO1B7 | c.636G>A (p.Leu212=) c.359+4192G>A (n.359+4192G>A) c.108G>A (p.Leu36=) c.552G>A (p.Leu184=) | gnomAD v4 |
12 | g.20862763G>C | CA384092074 | SLCO1B3,SLCO1B3-SLCO1B7 | c.636G>C (p.Leu212Phe) c.359+4192G>C (n.359+4192G>C) c.108G>C (p.Leu36Phe) c.552G>C (p.Leu184Phe) | dbSNP gnomAD v4 |
12 | g.20862763G>T | CA384092072 | SLCO1B3,SLCO1B3-SLCO1B7 | c.636G>T (p.Leu212Phe) c.359+4192G>T (n.359+4192G>T) c.108G>T (p.Leu36Phe) c.552G>T (p.Leu184Phe) | |
12 | g.20862764A>C | CA384092076 | SLCO1B3,SLCO1B3-SLCO1B7 | c.637A>C (p.Asn213His) c.359+4193A>C (n.359+4193A>C) c.109A>C (p.Asn37His) c.553A>C (p.Asn185His) | |
12 | g.20862764A>G | CA384092078 | SLCO1B3,SLCO1B3-SLCO1B7 | c.637A>G (p.Asn213Asp) c.359+4193A>G (n.359+4193A>G) c.109A>G (p.Asn37Asp) c.553A>G (p.Asn185Asp) | COSMIC |
12 | g.20862764A>T | CA384092080 | SLCO1B3,SLCO1B3-SLCO1B7 | c.637A>T (p.Asn213Tyr) c.359+4193A>T (n.359+4193A>T) c.109A>T (p.Asn37Tyr) c.553A>T (p.Asn185Tyr) | |
12 | g.20862765A= | CA2020845718 | SLCO1B3,SLCO1B3-SLCO1B7 | c.638A= (p.Asn213=) c.359+4194A= (n.359+4194A=) c.110A= (p.Asn37=) c.554A= (p.Asn185=) | |
12 | g.20862765A>C | CA384092081 | SLCO1B3,SLCO1B3-SLCO1B7 | c.638A>C (p.Asn213Thr) c.359+4194A>C (n.359+4194A>C) c.110A>C (p.Asn37Thr) c.554A>C (p.Asn185Thr) | |
12 | g.20862765A>G | CA233479605 | SLCO1B3,SLCO1B3-SLCO1B7 | c.638A>G (p.Asn213Ser) c.359+4194A>G (n.359+4194A>G) c.110A>G (p.Asn37Ser) c.554A>G (p.Asn185Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862765A>T | CA384092084 | SLCO1B3,SLCO1B3-SLCO1B7 | c.638A>T (p.Asn213Ile) c.359+4194A>T (n.359+4194A>T) c.110A>T (p.Asn37Ile) c.554A>T (p.Asn185Ile) | |
12 | g.20862766T>A | CA384092085 | SLCO1B3,SLCO1B3-SLCO1B7 | c.639T>A (p.Asn213Lys) c.359+4195T>A (n.359+4195T>A) c.111T>A (p.Asn37Lys) c.555T>A (p.Asn185Lys) | gnomAD v4 |
12 | g.20862766T>C | CA478854981 | SLCO1B3,SLCO1B3-SLCO1B7 | c.639T>C (p.Asn213=) c.359+4195T>C (n.359+4195T>C) c.111T>C (p.Asn37=) c.555T>C (p.Asn185=) | dbSNP gnomAD v4 |
12 | g.20862766T>G | CA384092086 | SLCO1B3,SLCO1B3-SLCO1B7 | c.639T>G (p.Asn213Lys) c.359+4195T>G (n.359+4195T>G) c.111T>G (p.Asn37Lys) c.555T>G (p.Asn185Lys) | |
12 | g.20862766T= | CA2020845719 | SLCO1B3,SLCO1B3-SLCO1B7 | c.639T= (p.Asn213=) c.359+4195T= (n.359+4195T=) c.111T= (p.Asn37=) c.555T= (p.Asn185=) | |
12 | g.20862767G>A | CA384092089 | SLCO1B3,SLCO1B3-SLCO1B7 | c.640G>A (p.Ala214Thr) c.359+4196G>A (n.359+4196G>A) c.112G>A (p.Ala38Thr) c.556G>A (p.Ala186Thr) | |
12 | g.20862767G>C | CA384092090 | SLCO1B3,SLCO1B3-SLCO1B7 | c.640G>C (p.Ala214Pro) c.359+4196G>C (n.359+4196G>C) c.112G>C (p.Ala38Pro) c.556G>C (p.Ala186Pro) | |
12 | g.20862767G>T | CA384092091 | SLCO1B3,SLCO1B3-SLCO1B7 | c.640G>T (p.Ala214Ser) c.359+4196G>T (n.359+4196G>T) c.112G>T (p.Ala38Ser) c.556G>T (p.Ala186Ser) | |
12 | g.20862768C>A | CA384092095 | SLCO1B3,SLCO1B3-SLCO1B7 | c.641C>A (p.Ala214Glu) c.359+4197C>A (n.359+4197C>A) c.113C>A (p.Ala38Glu) c.557C>A (p.Ala186Glu) | |
12 | g.20862768C>G | CA384092097 | SLCO1B3,SLCO1B3-SLCO1B7 | c.641C>G (p.Ala214Gly) c.359+4197C>G (n.359+4197C>G) c.113C>G (p.Ala38Gly) c.557C>G (p.Ala186Gly) | |
12 | g.20862768C>T | CA384092094 | SLCO1B3,SLCO1B3-SLCO1B7 | c.641C>T (p.Ala214Val) c.359+4197C>T (n.359+4197C>T) c.113C>T (p.Ala38Val) c.557C>T (p.Ala186Val) | |
12 | g.20862769A= | CA2020845720 | SLCO1B3,SLCO1B3-SLCO1B7 | c.642A= (p.Ala214=) c.359+4198A= (n.359+4198A=) c.114A= (p.Ala38=) c.558A= (p.Ala186=) | |
12 | g.20862769A>C | CA6475283 | SLCO1B3,SLCO1B3-SLCO1B7 | c.642A>C (p.Ala214=) c.359+4198A>C (n.359+4198A>C) c.114A>C (p.Ala38=) c.558A>C (p.Ala186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862769A>G | CA478854982 | SLCO1B3,SLCO1B3-SLCO1B7 | c.642A>G (p.Ala214=) c.359+4198A>G (n.359+4198A>G) c.114A>G (p.Ala38=) c.558A>G (p.Ala186=) | dbSNP |
12 | g.20862769A>T | CA478854983 | SLCO1B3,SLCO1B3-SLCO1B7 | c.642A>T (p.Ala214=) c.359+4198A>T (n.359+4198A>T) c.114A>T (p.Ala38=) c.558A>T (p.Ala186=) | |
12 | g.20862770A= | CA2020845721 | SLCO1B3,SLCO1B3-SLCO1B7 | c.643A= (p.Ile215=) c.359+4199A= (n.359+4199A=) c.115A= (p.Ile39=) c.559A= (p.Ile187=) | |
12 | g.20862770A>C | CA384092100 | SLCO1B3,SLCO1B3-SLCO1B7 | c.643A>C (p.Ile215Leu) c.359+4199A>C (n.359+4199A>C) c.115A>C (p.Ile39Leu) c.559A>C (p.Ile187Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.20862770A>G | CA6475284 | SLCO1B3,SLCO1B3-SLCO1B7 | c.643A>G (p.Ile215Val) c.359+4199A>G (n.359+4199A>G) c.115A>G (p.Ile39Val) c.559A>G (p.Ile187Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862770A>T | CA384092103 | SLCO1B3,SLCO1B3-SLCO1B7 | c.643A>T (p.Ile215Leu) c.359+4199A>T (n.359+4199A>T) c.115A>T (p.Ile39Leu) c.559A>T (p.Ile187Leu) | |
12 | g.20862771T>A | CA384092109 | SLCO1B3,SLCO1B3-SLCO1B7 | c.644T>A (p.Ile215Lys) c.359+4200T>A (n.359+4200T>A) c.116T>A (p.Ile39Lys) c.560T>A (p.Ile187Lys) | |
12 | g.20862771T>C | CA384092107 | SLCO1B3,SLCO1B3-SLCO1B7 | c.644T>C (p.Ile215Thr) c.359+4200T>C (n.359+4200T>C) c.116T>C (p.Ile39Thr) c.560T>C (p.Ile187Thr) | gnomAD v4 |
12 | g.20862771T>G | CA384092105 | SLCO1B3,SLCO1B3-SLCO1B7 | c.644T>G (p.Ile215Arg) c.359+4200T>G (n.359+4200T>G) c.116T>G (p.Ile39Arg) c.560T>G (p.Ile187Arg) | |
12 | g.20862772A= | CA2020845722 | SLCO1B3,SLCO1B3-SLCO1B7 | c.645A= (p.Ile215=) c.359+4201A= (n.359+4201A=) c.117A= (p.Ile39=) c.561A= (p.Ile187=) | |
12 | g.20862772A>C | CA478854984 | SLCO1B3,SLCO1B3-SLCO1B7 | c.645A>C (p.Ile215=) c.359+4201A>C (n.359+4201A>C) c.117A>C (p.Ile39=) c.561A>C (p.Ile187=) | |
12 | g.20862772A>G | CA6475285 | SLCO1B3,SLCO1B3-SLCO1B7 | c.645A>G (p.Ile215Met) c.359+4201A>G (n.359+4201A>G) c.117A>G (p.Ile39Met) c.561A>G (p.Ile187Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862772A>T | CA478854985 | SLCO1B3,SLCO1B3-SLCO1B7 | c.645A>T (p.Ile215=) c.359+4201A>T (n.359+4201A>T) c.117A>T (p.Ile39=) c.561A>T (p.Ile187=) | |
12 | g.20862773G>A | CA384092112 | SLCO1B3,SLCO1B3-SLCO1B7 | c.646G>A (p.Gly216Arg) c.359+4202G>A (n.359+4202G>A) c.118G>A (p.Gly40Arg) c.562G>A (p.Gly188Arg) | dbSNP gnomAD v4 |
12 | g.20862773G>C | CA384092114 | SLCO1B3,SLCO1B3-SLCO1B7 | c.646G>C (p.Gly216Arg) c.359+4202G>C (n.359+4202G>C) c.118G>C (p.Gly40Arg) c.562G>C (p.Gly188Arg) | |
12 | g.20862773G= | CA2020845723 | SLCO1B3,SLCO1B3-SLCO1B7 | c.646G= (p.Gly216=) c.359+4202G= (n.359+4202G=) c.118G= (p.Gly40=) c.562G= (p.Gly188=) | |
12 | g.20862773G>T | CA384092116 | SLCO1B3,SLCO1B3-SLCO1B7 | c.646G>T (p.Gly216Ter) c.359+4202G>T (n.359+4202G>T) c.118G>T (p.Gly40Ter) c.562G>T (p.Gly188Ter) | |
12 | g.20862774G>A | CA6475286 | SLCO1B3,SLCO1B3-SLCO1B7 | c.647G>A (p.Gly216Glu) c.359+4203G>A (n.359+4203G>A) c.119G>A (p.Gly40Glu) c.563G>A (p.Gly188Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.20862774G>C | CA384092118 | SLCO1B3,SLCO1B3-SLCO1B7 | c.647G>C (p.Gly216Ala) c.359+4203G>C (n.359+4203G>C) c.119G>C (p.Gly40Ala) c.563G>C (p.Gly188Ala) | |
12 | g.20862774G= | CA2020845724 | SLCO1B3,SLCO1B3-SLCO1B7 | c.647G= (p.Gly216=) c.359+4203G= (n.359+4203G=) c.119G= (p.Gly40=) c.563G= (p.Gly188=) | |
12 | g.20862774G>T | CA384092120 | SLCO1B3,SLCO1B3-SLCO1B7 | c.647G>T (p.Gly216Val) c.359+4203G>T (n.359+4203G>T) c.119G>T (p.Gly40Val) c.563G>T (p.Gly188Val) | ClinVar |
12 | g.20862775A>C | CA478854986 | SLCO1B3,SLCO1B3-SLCO1B7 | c.648A>C (p.Gly216=) c.359+4204A>C (n.359+4204A>C) c.120A>C (p.Gly40=) c.564A>C (p.Gly188=) | |
12 | g.20862775A>G | CA478854987 | SLCO1B3,SLCO1B3-SLCO1B7 | c.648A>G (p.Gly216=) c.359+4204A>G (n.359+4204A>G) c.120A>G (p.Gly40=) c.564A>G (p.Gly188=) | |
12 | g.20862775A>T | CA478854988 | SLCO1B3,SLCO1B3-SLCO1B7 | c.648A>T (p.Gly216=) c.359+4204A>T (n.359+4204A>T) c.120A>T (p.Gly40=) c.564A>T (p.Gly188=) | gnomAD v4 |
12 | g.20862776A>C | CA384092124 | SLCO1B3,SLCO1B3-SLCO1B7 | c.649A>C (p.Met217Leu) c.359+4205A>C (n.359+4205A>C) c.121A>C (p.Met41Leu) c.565A>C (p.Met189Leu) | |
12 | g.20862776A>G | CA384092125 | SLCO1B3,SLCO1B3-SLCO1B7 | c.649A>G (p.Met217Val) c.359+4205A>G (n.359+4205A>G) c.121A>G (p.Met41Val) c.565A>G (p.Met189Val) | |
12 | g.20862776A>T | CA384092122 | SLCO1B3,SLCO1B3-SLCO1B7 | c.649A>T (p.Met217Leu) c.359+4205A>T (n.359+4205A>T) c.121A>T (p.Met41Leu) c.565A>T (p.Met189Leu) | |
12 | g.20862777T>A | CA384092128 | SLCO1B3,SLCO1B3-SLCO1B7 | c.650T>A (p.Met217Lys) c.359+4206T>A (n.359+4206T>A) c.122T>A (p.Met41Lys) c.566T>A (p.Met189Lys) | |
12 | g.20862777T>C | CA384092132 | SLCO1B3,SLCO1B3-SLCO1B7 | c.650T>C (p.Met217Thr) c.359+4206T>C (n.359+4206T>C) c.122T>C (p.Met41Thr) c.566T>C (p.Met189Thr) | |
12 | g.20862777T>G | CA384092130 | SLCO1B3,SLCO1B3-SLCO1B7 | c.650T>G (p.Met217Arg) c.359+4206T>G (n.359+4206T>G) c.122T>G (p.Met41Arg) c.566T>G (p.Met189Arg) | |
12 | g.20862778G>A | CA384092134 | SLCO1B3,SLCO1B3-SLCO1B7 | c.651G>A (p.Met217Ile) c.359+4207G>A (n.359+4207G>A) c.123G>A (p.Met41Ile) c.567G>A (p.Met189Ile) | COSMIC |
12 | g.20862778G>C | CA384092135 | SLCO1B3,SLCO1B3-SLCO1B7 | c.651G>C (p.Met217Ile) c.359+4207G>C (n.359+4207G>C) c.123G>C (p.Met41Ile) c.567G>C (p.Met189Ile) | |
12 | g.20862778G>T | CA384092137 | SLCO1B3,SLCO1B3-SLCO1B7 | c.651G>T (p.Met217Ile) c.359+4207G>T (n.359+4207G>T) c.123G>T (p.Met41Ile) c.567G>T (p.Met189Ile) | |
12 | g.20862779A>C | CA384092140 | SLCO1B3,SLCO1B3-SLCO1B7 | c.652A>C (p.Ile218Leu) c.359+4208A>C (n.359+4208A>C) c.124A>C (p.Ile42Leu) c.568A>C (p.Ile190Leu) | |
12 | g.20862779A>G | CA384092142 | SLCO1B3,SLCO1B3-SLCO1B7 | c.652A>G (p.Ile218Val) c.359+4208A>G (n.359+4208A>G) c.124A>G (p.Ile42Val) c.568A>G (p.Ile190Val) | gnomAD v4 COSMIC |
12 | g.20862779A>T | CA384092144 | SLCO1B3,SLCO1B3-SLCO1B7 | c.652A>T (p.Ile218Phe) c.359+4208A>T (n.359+4208A>T) c.124A>T (p.Ile42Phe) c.568A>T (p.Ile190Phe) | |
12 | g.20862780T>A | CA384092147 | SLCO1B3,SLCO1B3-SLCO1B7 | c.653T>A (p.Ile218Asn) c.359+4209T>A (n.359+4209T>A) c.125T>A (p.Ile42Asn) c.569T>A (p.Ile190Asn) | |
12 | g.20862780T>C | CA384092148 | SLCO1B3,SLCO1B3-SLCO1B7 | c.653T>C (p.Ile218Thr) c.359+4209T>C (n.359+4209T>C) c.125T>C (p.Ile42Thr) c.569T>C (p.Ile190Thr) | gnomAD v4 |
12 | g.20862780T>G | CA384092150 | SLCO1B3,SLCO1B3-SLCO1B7 | c.653T>G (p.Ile218Ser) c.359+4209T>G (n.359+4209T>G) c.125T>G (p.Ile42Ser) c.569T>G (p.Ile190Ser) | |
12 | g.20862781T>A | CA478854989 | SLCO1B3,SLCO1B3-SLCO1B7 | c.654T>A (p.Ile218=) c.359+4210T>A (n.359+4210T>A) c.126T>A (p.Ile42=) c.570T>A (p.Ile190=) | gnomAD v4 |
12 | g.20862781T>C | CA478854990 | SLCO1B3,SLCO1B3-SLCO1B7 | c.654T>C (p.Ile218=) c.359+4210T>C (n.359+4210T>C) c.126T>C (p.Ile42=) c.570T>C (p.Ile190=) | |
12 | g.20862781T>G | CA6475287 | SLCO1B3,SLCO1B3-SLCO1B7 | c.654T>G (p.Ile218Met) c.359+4210T>G (n.359+4210T>G) c.126T>G (p.Ile42Met) c.570T>G (p.Ile190Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862781T= | CA2020845725 | SLCO1B3,SLCO1B3-SLCO1B7 | c.654T= (p.Ile218=) c.359+4210T= (n.359+4210T=) c.126T= (p.Ile42=) c.570T= (p.Ile190=) | |
12 | g.20862782G>A | CA384092158 | SLCO1B3,SLCO1B3-SLCO1B7 | c.655G>A (p.Gly219Ser) c.359+4211G>A (n.359+4211G>A) c.127G>A (p.Gly43Ser) c.571G>A (p.Gly191Ser) | dbSNP |
12 | g.20862782G>C | CA384092156 | SLCO1B3,SLCO1B3-SLCO1B7 | c.655G>C (p.Gly219Arg) c.359+4211G>C (n.359+4211G>C) c.127G>C (p.Gly43Arg) c.571G>C (p.Gly191Arg) | dbSNP |
12 | g.20862782G= | CA2020845726 | SLCO1B3,SLCO1B3-SLCO1B7 | c.655G= (p.Gly219=) c.359+4211G= (n.359+4211G=) c.127G= (p.Gly43=) c.571G= (p.Gly191=) | |
12 | g.20862782G>T | CA384092154 | SLCO1B3,SLCO1B3-SLCO1B7 | c.655G>T (p.Gly219Cys) c.359+4211G>T (n.359+4211G>T) c.127G>T (p.Gly43Cys) c.571G>T (p.Gly191Cys) | COSMIC |
12 | g.20862783G>A | CA384092160 | SLCO1B3,SLCO1B3-SLCO1B7 | c.656G>A (p.Gly219Asp) c.359+4212G>A (n.359+4212G>A) c.128G>A (p.Gly43Asp) c.572G>A (p.Gly191Asp) | |
12 | g.20862783G>C | CA384092162 | SLCO1B3,SLCO1B3-SLCO1B7 | c.656G>C (p.Gly219Ala) c.359+4212G>C (n.359+4212G>C) c.128G>C (p.Gly43Ala) c.572G>C (p.Gly191Ala) | |
12 | g.20862783G>T | CA384092164 | SLCO1B3,SLCO1B3-SLCO1B7 | c.656G>T (p.Gly219Val) c.359+4212G>T (n.359+4212G>T) c.128G>T (p.Gly43Val) c.572G>T (p.Gly191Val) | |
12 | g.20862784T>A | CA478854993 | SLCO1B3,SLCO1B3-SLCO1B7 | c.657T>A (p.Gly219=) c.359+4213T>A (n.359+4213T>A) c.129T>A (p.Gly43=) c.573T>A (p.Gly191=) | |
12 | g.20862784T>C | CA478854992 | SLCO1B3,SLCO1B3-SLCO1B7 | c.657T>C (p.Gly219=) c.359+4213T>C (n.359+4213T>C) c.129T>C (p.Gly43=) c.573T>C (p.Gly191=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862784T>G | CA478854991 | SLCO1B3,SLCO1B3-SLCO1B7 | c.657T>G (p.Gly219=) c.359+4213T>G (n.359+4213T>G) c.129T>G (p.Gly43=) c.573T>G (p.Gly191=) | |
12 | g.20862784T= | CA2020845727 | SLCO1B3,SLCO1B3-SLCO1B7 | c.657T= (p.Gly219=) c.359+4213T= (n.359+4213T=) c.129T= (p.Gly43=) c.573T= (p.Gly191=) | |
12 | g.20862785C>A | CA384092165 | SLCO1B3,SLCO1B3-SLCO1B7 | c.658C>A (p.Pro220Thr) c.359+4214C>A (n.359+4214C>A) c.130C>A (p.Pro44Thr) c.574C>A (p.Pro192Thr) | |
12 | g.20862785C= | CA2020845728 | SLCO1B3,SLCO1B3-SLCO1B7 | c.658C= (p.Pro220=) c.359+4214C= (n.359+4214C=) c.130C= (p.Pro44=) c.574C= (p.Pro192=) | |
12 | g.20862785C>G | CA6475288 | SLCO1B3,SLCO1B3-SLCO1B7 | c.658C>G (p.Pro220Ala) c.359+4214C>G (n.359+4214C>G) c.130C>G (p.Pro44Ala) c.574C>G (p.Pro192Ala) | dbSNP ExAC gnomAD v2 |
12 | g.20862785C>T | CA384092168 | SLCO1B3,SLCO1B3-SLCO1B7 | c.658C>T (p.Pro220Ser) c.359+4214C>T (n.359+4214C>T) c.130C>T (p.Pro44Ser) c.574C>T (p.Pro192Ser) | |
12 | g.20862786C>A | CA384092170 | SLCO1B3,SLCO1B3-SLCO1B7 | c.659C>A (p.Pro220Gln) c.359+4215C>A (n.359+4215C>A) c.131C>A (p.Pro44Gln) c.575C>A (p.Pro192Gln) | |
12 | g.20862786C= | CA2020845729 | SLCO1B3,SLCO1B3-SLCO1B7 | c.659C= (p.Pro220=) c.359+4215C= (n.359+4215C=) c.131C= (p.Pro44=) c.575C= (p.Pro192=) | |
12 | g.20862786C>G | CA384092172 | SLCO1B3,SLCO1B3-SLCO1B7 | c.659C>G (p.Pro220Arg) c.359+4215C>G (n.359+4215C>G) c.131C>G (p.Pro44Arg) c.575C>G (p.Pro192Arg) | |
12 | g.20862786C>T | CA384092174 | SLCO1B3,SLCO1B3-SLCO1B7 | c.659C>T (p.Pro220Leu) c.359+4215C>T (n.359+4215C>T) c.131C>T (p.Pro44Leu) c.575C>T (p.Pro192Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.20862787A>C | CA478854994 | SLCO1B3,SLCO1B3-SLCO1B7 | c.660A>C (p.Pro220=) c.359+4216A>C (n.359+4216A>C) c.132A>C (p.Pro44=) c.576A>C (p.Pro192=) | |
12 | g.20862787A>G | CA478854996 | SLCO1B3,SLCO1B3-SLCO1B7 | c.660A>G (p.Pro220=) c.359+4216A>G (n.359+4216A>G) c.132A>G (p.Pro44=) c.576A>G (p.Pro192=) | |
12 | g.20862787A>T | CA478854995 | SLCO1B3,SLCO1B3-SLCO1B7 | c.660A>T (p.Pro220=) c.359+4216A>T (n.359+4216A>T) c.132A>T (p.Pro44=) c.576A>T (p.Pro192=) | gnomAD v4 |
12 | g.20862788G>A | CA233479613 | SLCO1B3,SLCO1B3-SLCO1B7 | c.661G>A (p.Val221Ile) c.359+4217G>A (n.359+4217G>A) c.133G>A (p.Val45Ile) c.577G>A (p.Val193Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862788G>C | CA384092178 | SLCO1B3,SLCO1B3-SLCO1B7 | c.661G>C (p.Val221Leu) c.359+4217G>C (n.359+4217G>C) c.133G>C (p.Val45Leu) c.577G>C (p.Val193Leu) | dbSNP |
12 | g.20862788G= | CA2020845730 | SLCO1B3,SLCO1B3-SLCO1B7 | c.661G= (p.Val221=) c.359+4217G= (n.359+4217G=) c.133G= (p.Val45=) c.577G= (p.Val193=) | |
12 | g.20862788G>T | CA384092179 | SLCO1B3,SLCO1B3-SLCO1B7 | c.661G>T (p.Val221Phe) c.359+4217G>T (n.359+4217G>T) c.133G>T (p.Val45Phe) c.577G>T (p.Val193Phe) | |
12 | g.20862789T>A | CA384092184 | SLCO1B3,SLCO1B3-SLCO1B7 | c.662T>A (p.Val221Asp) c.359+4218T>A (n.359+4218T>A) c.134T>A (p.Val45Asp) c.578T>A (p.Val193Asp) | |
12 | g.20862789T>C | CA233479619 | SLCO1B3,SLCO1B3-SLCO1B7 | c.662T>C (p.Val221Ala) c.359+4218T>C (n.359+4218T>C) c.134T>C (p.Val45Ala) c.578T>C (p.Val193Ala) | dbSNP gnomAD v4 |
12 | g.20862789T>G | CA384092181 | SLCO1B3,SLCO1B3-SLCO1B7 | c.662T>G (p.Val221Gly) c.359+4218T>G (n.359+4218T>G) c.134T>G (p.Val45Gly) c.578T>G (p.Val193Gly) | gnomAD v4 |
12 | g.20862789T= | CA2020845731 | SLCO1B3,SLCO1B3-SLCO1B7 | c.662T= (p.Val221=) c.359+4218T= (n.359+4218T=) c.134T= (p.Val45=) c.578T= (p.Val193=) | |
12 | g.20862790C>A | CA478854997 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>A (p.Val221=) c.359+4219C>A (n.359+4219C>A) c.135C>A (p.Val45=) c.579C>A (p.Val193=) | |
12 | g.20862790C= | CA2020845732 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C= (p.Val221=) c.359+4219C= (n.359+4219C=) c.135C= (p.Val45=) c.579C= (p.Val193=) | |
12 | g.20862790C>G | CA478854998 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>G (p.Val221=) c.359+4219C>G (n.359+4219C>G) c.135C>G (p.Val45=) c.579C>G (p.Val193=) | |
12 | g.20862790C>T | CA6475289 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>T (p.Val221=) c.359+4219C>T (n.359+4219C>T) c.135C>T (p.Val45=) c.579C>T (p.Val193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862791A>C | CA384092189 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>C (p.Ile222Leu) c.359+4220A>C (n.359+4220A>C) c.136A>C (p.Ile46Leu) c.580A>C (p.Ile194Leu) | |
12 | g.20862791A>G | CA384092190 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>G (p.Ile222Val) c.359+4220A>G (n.359+4220A>G) c.136A>G (p.Ile46Val) c.580A>G (p.Ile194Val) | |
12 | g.20862791A>T | CA384092192 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>T (p.Ile222Phe) c.359+4220A>T (n.359+4220A>T) c.136A>T (p.Ile46Phe) c.580A>T (p.Ile194Phe) | |
12 | g.20862792T>A | CA384092194 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>A (p.Ile222Asn) c.359+4221T>A (n.359+4221T>A) c.137T>A (p.Ile46Asn) c.581T>A (p.Ile194Asn) | |
12 | g.20862792T>C | CA384092196 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>C (p.Ile222Thr) c.359+4221T>C (n.359+4221T>C) c.137T>C (p.Ile46Thr) c.581T>C (p.Ile194Thr) | gnomAD v4 |
12 | g.20862792T>G | CA384092197 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>G (p.Ile222Ser) c.359+4221T>G (n.359+4221T>G) c.137T>G (p.Ile46Ser) c.581T>G (p.Ile194Ser) | |
12 | g.20862793T>A | CA478854999 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>A (p.Ile222=) c.359+4222T>A (n.359+4222T>A) c.138T>A (p.Ile46=) c.582T>A (p.Ile194=) | |
12 | g.20862793T>C | CA478855000 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>C (p.Ile222=) c.359+4222T>C (n.359+4222T>C) c.138T>C (p.Ile46=) c.582T>C (p.Ile194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862793T>G | CA384092198 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>G (p.Ile222Met) c.359+4222T>G (n.359+4222T>G) c.138T>G (p.Ile46Met) c.582T>G (p.Ile194Met) | |
12 | g.20862793T= | CA2020845733 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T= (p.Ile222=) c.359+4222T= (n.359+4222T=) c.138T= (p.Ile46=) c.582T= (p.Ile194=) | |
12 | g.20862794G>A | CA384092200 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>A (p.Gly223Ser) c.359+4223G>A (n.359+4223G>A) c.139G>A (p.Gly47Ser) c.583G>A (p.Gly195Ser) | |
12 | g.20862794G>C | CA384092202 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>C (p.Gly223Arg) c.359+4223G>C (n.359+4223G>C) c.139G>C (p.Gly47Arg) c.583G>C (p.Gly195Arg) | |
12 | g.20862794G>T | CA384092204 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>T (p.Gly223Cys) c.359+4223G>T (n.359+4223G>T) c.139G>T (p.Gly47Cys) c.583G>T (p.Gly195Cys) | |
12 | g.20862795del | CA2575095616 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668del (p.Gly223AlafsTer18) c.359+4224del (n.359+4224del) c.140del (p.Gly47AlafsTer18) c.584del (p.Gly195AlafsTer18) | gnomAD v4 |
12 | g.20862795G>A | CA384092205 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>A (p.Gly223Asp) c.359+4224G>A (n.359+4224G>A) c.140G>A (p.Gly47Asp) c.584G>A (p.Gly195Asp) | gnomAD v4 |
12 | g.20862795G>C | CA384092207 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>C (p.Gly223Ala) c.359+4224G>C (n.359+4224G>C) c.140G>C (p.Gly47Ala) c.584G>C (p.Gly195Ala) | gnomAD v4 |
12 | g.20862795G>T | CA384092209 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>T (p.Gly223Val) c.359+4224G>T (n.359+4224G>T) c.140G>T (p.Gly47Val) c.584G>T (p.Gly195Val) | |
12 | g.20862796C>A | CA478855001 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>A (p.Gly223=) c.359+4225C>A (n.359+4225C>A) c.141C>A (p.Gly47=) c.585C>A (p.Gly195=) | |
12 | g.20862796C>G | CA478855002 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>G (p.Gly223=) c.359+4225C>G (n.359+4225C>G) c.141C>G (p.Gly47=) c.585C>G (p.Gly195=) | |
12 | g.20862796C>T | CA478855003 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>T (p.Gly223=) c.359+4225C>T (n.359+4225C>T) c.141C>T (p.Gly47=) c.585C>T (p.Gly195=) | |
12 | g.20862797T>A | CA384092210 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>A (p.Phe224Ile) c.359+4226T>A (n.359+4226T>A) c.142T>A (p.Phe48Ile) c.586T>A (p.Phe196Ile) | |
12 | g.20862797T>C | CA384092214 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>C (p.Phe224Leu) c.359+4226T>C (n.359+4226T>C) c.142T>C (p.Phe48Leu) c.586T>C (p.Phe196Leu) | |
12 | g.20862797T>G | CA384092212 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>G (p.Phe224Val) c.359+4226T>G (n.359+4226T>G) c.142T>G (p.Phe48Val) c.586T>G (p.Phe196Val) | |
12 | g.20862797_20862798insA | CA2617889731 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670_671insA (p.Phe224TyrfsTer9) c.359+4226_359+4227insA (n.359+4226_359+4227insA) c.142_143insA (p.Phe48TyrfsTer9) c.586_587insA (p.Phe196TyrfsTer9) | gnomAD v4 |
12 | g.20862798T>A | CA384092215 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>A (p.Phe224Tyr) c.359+4227T>A (n.359+4227T>A) c.143T>A (p.Phe48Tyr) c.587T>A (p.Phe196Tyr) | |
12 | g.20862798T>C | CA384092217 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>C (p.Phe224Ser) c.359+4227T>C (n.359+4227T>C) c.143T>C (p.Phe48Ser) c.587T>C (p.Phe196Ser) | |
12 | g.20862798T>G | CA384092219 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>G (p.Phe224Cys) c.359+4227T>G (n.359+4227T>G) c.143T>G (p.Phe48Cys) c.587T>G (p.Phe196Cys) | |
12 | g.20862799T>A | CA384092221 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>A (p.Phe224Leu) c.359+4228T>A (n.359+4228T>A) c.144T>A (p.Phe48Leu) c.588T>A (p.Phe196Leu) | |
12 | g.20862799T>C | CA478855004 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>C (p.Phe224=) c.359+4228T>C (n.359+4228T>C) c.144T>C (p.Phe48=) c.588T>C (p.Phe196=) | dbSNP gnomAD v4 |
12 | g.20862799T>G | CA384092223 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>G (p.Phe224Leu) c.359+4228T>G (n.359+4228T>G) c.144T>G (p.Phe48Leu) c.588T>G (p.Phe196Leu) | |
12 | g.20862799T= | CA2020845734 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T= (p.Phe224=) c.359+4228T= (n.359+4228T=) c.144T= (p.Phe48=) c.588T= (p.Phe196=) | |
12 | g.20862800G>A | CA384092225 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>A (p.Ala225Thr) c.359+4229G>A (n.359+4229G>A) c.145G>A (p.Ala49Thr) c.589G>A (p.Ala197Thr) | |
12 | g.20862800G>C | CA384092227 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>C (p.Ala225Pro) c.359+4229G>C (n.359+4229G>C) c.145G>C (p.Ala49Pro) c.589G>C (p.Ala197Pro) | |
12 | g.20862800G>T | CA384092229 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>T (p.Ala225Ser) c.359+4229G>T (n.359+4229G>T) c.145G>T (p.Ala49Ser) c.589G>T (p.Ala197Ser) | |
12 | g.20862801C>A | CA384092230 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>A (p.Ala225Glu) c.359+4230C>A (n.359+4230C>A) c.146C>A (p.Ala49Glu) c.590C>A (p.Ala197Glu) | |
12 | g.20862801C>G | CA384092231 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>G (p.Ala225Gly) c.359+4230C>G (n.359+4230C>G) c.146C>G (p.Ala49Gly) c.590C>G (p.Ala197Gly) | |
12 | g.20862801C>T | CA384092233 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>T (p.Ala225Val) c.359+4230C>T (n.359+4230C>T) c.146C>T (p.Ala49Val) c.590C>T (p.Ala197Val) | gnomAD v4 |
12 | g.20862802A>C | CA478855006 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>C (p.Ala225=) c.359+4231A>C (n.359+4231A>C) c.147A>C (p.Ala49=) c.591A>C (p.Ala197=) | |
12 | g.20862802A>G | CA478855007 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>G (p.Ala225=) c.359+4231A>G (n.359+4231A>G) c.147A>G (p.Ala49=) c.591A>G (p.Ala197=) | |
12 | g.20862802A>T | CA478855005 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>T (p.Ala225=) c.359+4231A>T (n.359+4231A>T) c.147A>T (p.Ala49=) c.591A>T (p.Ala197=) | |
12 | g.20862803C>A | CA384092236 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>A (p.Leu226Met) c.359+4232C>A (n.359+4232C>A) c.148C>A (p.Leu50Met) c.592C>A (p.Leu198Met) | ClinVar |
12 | g.20862803C= | CA2020845735 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C= (p.Leu226=) c.359+4232C= (n.359+4232C=) c.148C= (p.Leu50=) c.592C= (p.Leu198=) | |
12 | g.20862803C>G | CA6475290 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>G (p.Leu226Val) c.359+4232C>G (n.359+4232C>G) c.148C>G (p.Leu50Val) c.592C>G (p.Leu198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862803C>T | CA6475291 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>T (p.Leu226=) c.359+4232C>T (n.359+4232C>T) c.148C>T (p.Leu50=) c.592C>T (p.Leu198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862804T>A | CA384092240 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T>A (p.Leu226Gln) c.359+4233T>A (n.359+4233T>A) c.149T>A (p.Leu50Gln) c.593T>A (p.Leu198Gln) | |
12 | g.20862804T>C | CA233479634 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T>C (p.Leu226Pro) c.359+4233T>C (n.359+4233T>C) c.149T>C (p.Leu50Pro) c.593T>C (p.Leu198Pro) | dbSNP gnomAD v4 |
12 | g.20862804T>G | CA384092242 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T>G (p.Leu226Arg) c.359+4233T>G (n.359+4233T>G) c.149T>G (p.Leu50Arg) c.593T>G (p.Leu198Arg) | |
12 | g.20862804T= | CA2020845736 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T= (p.Leu226=) c.359+4233T= (n.359+4233T=) c.149T= (p.Leu50=) c.593T= (p.Leu198=) | |
12 | g.20862805G>A | CA478855008 | SLCO1B3,SLCO1B3-SLCO1B7 | c.678G>A (p.Leu226=) c.359+4234G>A (n.359+4234G>A) c.150G>A (p.Leu50=) c.594G>A (p.Leu198=) | |
12 | g.20862805G>C | CA478855009 | SLCO1B3,SLCO1B3-SLCO1B7 | c.678G>C (p.Leu226=) c.359+4234G>C (n.359+4234G>C) c.150G>C (p.Leu50=) c.594G>C (p.Leu198=) | |
12 | g.20862805G>T | CA478855010 | SLCO1B3,SLCO1B3-SLCO1B7 | c.678G>T (p.Leu226=) c.359+4234G>T (n.359+4234G>T) c.150G>T (p.Leu50=) c.594G>T (p.Leu198=) | |
12 | g.20862807del | CA2617889747 | SLCO1B3,SLCO1B3-SLCO1B7 | c.680del (p.Gly227AspfsTer14) c.359+4236del (n.359+4236del) c.152del (p.Gly51AspfsTer14) c.596del (p.Gly199AspfsTer14) | gnomAD v4 |
12 | g.20862806_20862807del | CA2617889748 | SLCO1B3,SLCO1B3-SLCO1B7 | c.679_680del (p.Gly227IlefsTer5) c.359+4235_359+4236del (n.359+4235_359+4236del) c.151_152del (p.Gly51IlefsTer5) c.595_596del (p.Gly199IlefsTer5) | gnomAD v4 |
12 | g.20862806G>A | CA384092245 | SLCO1B3,SLCO1B3-SLCO1B7 | c.679G>A (p.Gly227Arg) c.359+4235G>A (n.359+4235G>A) c.151G>A (p.Gly51Arg) c.595G>A (p.Gly199Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.20862806G>C | CA384092249 | SLCO1B3,SLCO1B3-SLCO1B7 | c.679G>C (p.Gly227Arg) c.359+4235G>C (n.359+4235G>C) c.151G>C (p.Gly51Arg) c.595G>C (p.Gly199Arg) | |
12 | g.20862806G= | CA2020845737 | SLCO1B3,SLCO1B3-SLCO1B7 | c.679G= (p.Gly227=) c.359+4235G= (n.359+4235G=) c.151G= (p.Gly51=) c.595G= (p.Gly199=) | |
12 | g.20862806G>T | CA384092247 | SLCO1B3,SLCO1B3-SLCO1B7 | c.679G>T (p.Gly227Ter) c.359+4235G>T (n.359+4235G>T) c.151G>T (p.Gly51Ter) c.595G>T (p.Gly199Ter) | |
12 | g.20862807G>A | CA6475292 | SLCO1B3,SLCO1B3-SLCO1B7 | c.680G>A (p.Gly227Glu) c.359+4236G>A (n.359+4236G>A) c.152G>A (p.Gly51Glu) c.596G>A (p.Gly199Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.20862807G>C | CA384092251 | SLCO1B3,SLCO1B3-SLCO1B7 | c.680G>C (p.Gly227Ala) c.359+4236G>C (n.359+4236G>C) c.152G>C (p.Gly51Ala) c.596G>C (p.Gly199Ala) | |
12 | g.20862807G= | CA2020845738 | SLCO1B3,SLCO1B3-SLCO1B7 | c.680G= (p.Gly227=) c.359+4236G= (n.359+4236G=) c.152G= (p.Gly51=) c.596G= (p.Gly199=) | |
12 | g.20862807G>T | CA384092250 | SLCO1B3,SLCO1B3-SLCO1B7 | c.680G>T (p.Gly227Val) c.359+4236G>T (n.359+4236G>T) c.152G>T (p.Gly51Val) c.596G>T (p.Gly199Val) | |
12 | g.20862808A= | CA2020845739 | SLCO1B3,SLCO1B3-SLCO1B7 | c.681A= (p.Gly227=) c.359+4237A= (n.359+4237A=) c.153A= (p.Gly51=) c.597A= (p.Gly199=) | |
12 | g.20862808A>C | CA478855011 | SLCO1B3,SLCO1B3-SLCO1B7 | c.681A>C (p.Gly227=) c.359+4237A>C (n.359+4237A>C) c.153A>C (p.Gly51=) c.597A>C (p.Gly199=) | |
12 | g.20862808A>G | CA478855012 | SLCO1B3,SLCO1B3-SLCO1B7 | c.681A>G (p.Gly227=) c.359+4237A>G (n.359+4237A>G) c.153A>G (p.Gly51=) c.597A>G (p.Gly199=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862808A>T | CA478855013 | SLCO1B3,SLCO1B3-SLCO1B7 | c.681A>T (p.Gly227=) c.359+4237A>T (n.359+4237A>T) c.153A>T (p.Gly51=) c.597A>T (p.Gly199=) | gnomAD v4 |
12 | g.20862809T>A | CA384092252 | SLCO1B3,SLCO1B3-SLCO1B7 | c.682T>A (p.Ser228Thr) c.359+4238T>A (n.359+4238T>A) c.154T>A (p.Ser52Thr) c.598T>A (p.Ser200Thr) | |
12 | g.20862809T>C | CA384092253 | SLCO1B3,SLCO1B3-SLCO1B7 | c.682T>C (p.Ser228Pro) c.359+4238T>C (n.359+4238T>C) c.154T>C (p.Ser52Pro) c.598T>C (p.Ser200Pro) | |
12 | g.20862809T>G | CA384092254 | SLCO1B3,SLCO1B3-SLCO1B7 | c.682T>G (p.Ser228Ala) c.359+4238T>G (n.359+4238T>G) c.154T>G (p.Ser52Ala) c.598T>G (p.Ser200Ala) | |
12 | g.20862810C>A | CA6475293 | SLCO1B3,SLCO1B3-SLCO1B7 | c.683C>A (p.Ser228Tyr) c.359+4239C>A (n.359+4239C>A) c.155C>A (p.Ser52Tyr) c.599C>A (p.Ser200Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862810C= | CA2020845740 | SLCO1B3,SLCO1B3-SLCO1B7 | c.683C= (p.Ser228=) c.359+4239C= (n.359+4239C=) c.155C= (p.Ser52=) c.599C= (p.Ser200=) | |
12 | g.20862810C>G | CA384092255 | SLCO1B3,SLCO1B3-SLCO1B7 | c.683C>G (p.Ser228Cys) c.359+4239C>G (n.359+4239C>G) c.155C>G (p.Ser52Cys) c.599C>G (p.Ser200Cys) | |
12 | g.20862810C>T | CA384092256 | SLCO1B3,SLCO1B3-SLCO1B7 | c.683C>T (p.Ser228Phe) c.359+4239C>T (n.359+4239C>T) c.155C>T (p.Ser52Phe) c.599C>T (p.Ser200Phe) | |
12 | g.20862811T>A | CA478855014 | SLCO1B3,SLCO1B3-SLCO1B7 | c.684T>A (p.Ser228=) c.359+4240T>A (n.359+4240T>A) c.156T>A (p.Ser52=) c.600T>A (p.Ser200=) | |
12 | g.20862811T>C | CA478855015 | SLCO1B3,SLCO1B3-SLCO1B7 | c.684T>C (p.Ser228=) c.359+4240T>C (n.359+4240T>C) c.156T>C (p.Ser52=) c.600T>C (p.Ser200=) | |
12 | g.20862811T>G | CA478855016 | SLCO1B3,SLCO1B3-SLCO1B7 | c.684T>G (p.Ser228=) c.359+4240T>G (n.359+4240T>G) c.156T>G (p.Ser52=) c.600T>G (p.Ser200=) | |
12 | g.20862812C>A | CA384092257 | SLCO1B3,SLCO1B3-SLCO1B7 | c.685C>A (p.Leu229Met) c.359+4241C>A (n.359+4241C>A) c.157C>A (p.Leu53Met) c.601C>A (p.Leu201Met) | |
12 | g.20862812C= | CA2020845741 | SLCO1B3,SLCO1B3-SLCO1B7 | c.685C= (p.Leu229=) c.359+4241C= (n.359+4241C=) c.157C= (p.Leu53=) c.601C= (p.Leu201=) | |
12 | g.20862812C>G | CA384092258 | SLCO1B3,SLCO1B3-SLCO1B7 | c.685C>G (p.Leu229Val) c.359+4241C>G (n.359+4241C>G) c.157C>G (p.Leu53Val) c.601C>G (p.Leu201Val) | gnomAD v4 |
12 | g.20862812C>T | CA6475294 | SLCO1B3,SLCO1B3-SLCO1B7 | c.685C>T (p.Leu229=) c.359+4241C>T (n.359+4241C>T) c.157C>T (p.Leu53=) c.601C>T (p.Leu201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862813T>A | CA384092259 | SLCO1B3,SLCO1B3-SLCO1B7 | c.686T>A (p.Leu229Gln) c.359+4242T>A (n.359+4242T>A) c.158T>A (p.Leu53Gln) c.602T>A (p.Leu201Gln) | |
12 | g.20862813T>C | CA6475295 | SLCO1B3,SLCO1B3-SLCO1B7 | c.686T>C (p.Leu229Pro) c.359+4242T>C (n.359+4242T>C) c.158T>C (p.Leu53Pro) c.602T>C (p.Leu201Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862813T>G | CA384092260 | SLCO1B3,SLCO1B3-SLCO1B7 | c.686T>G (p.Leu229Arg) c.359+4242T>G (n.359+4242T>G) c.158T>G (p.Leu53Arg) c.602T>G (p.Leu201Arg) | gnomAD v4 |
12 | g.20862813T= | CA2020845742 | SLCO1B3,SLCO1B3-SLCO1B7 | c.686T= (p.Leu229=) c.359+4242T= (n.359+4242T=) c.158T= (p.Leu53=) c.602T= (p.Leu201=) | |
12 | g.20862815_20862818del | CA2617889783 | SLCO1B3,SLCO1B3-SLCO1B7 | c.688_691del (p.Phe230LeufsTer10) c.359+4244_359+4247del (n.359+4244_359+4247del) c.160_163del (p.Phe54LeufsTer10) c.604_607del (p.Phe202LeufsTer10) | gnomAD v4 |
12 | g.20862814G>A | CA478855017 | SLCO1B3,SLCO1B3-SLCO1B7 | c.687G>A (p.Leu229=) c.359+4243G>A (n.359+4243G>A) c.159G>A (p.Leu53=) c.603G>A (p.Leu201=) | gnomAD v4 |
12 | g.20862814G>C | CA478855019 | SLCO1B3,SLCO1B3-SLCO1B7 | c.687G>C (p.Leu229=) c.359+4243G>C (n.359+4243G>C) c.159G>C (p.Leu53=) c.603G>C (p.Leu201=) | |
12 | g.20862814G>T | CA478855018 | SLCO1B3,SLCO1B3-SLCO1B7 | c.687G>T (p.Leu229=) c.359+4243G>T (n.359+4243G>T) c.159G>T (p.Leu53=) c.603G>T (p.Leu201=) | |
12 | g.20862815T>A | CA384092263 | SLCO1B3,SLCO1B3-SLCO1B7 | c.688T>A (p.Phe230Ile) c.359+4244T>A (n.359+4244T>A) c.160T>A (p.Phe54Ile) c.604T>A (p.Phe202Ile) | |
12 | g.20862815T>C | CA384092261 | SLCO1B3,SLCO1B3-SLCO1B7 | c.688T>C (p.Phe230Leu) c.359+4244T>C (n.359+4244T>C) c.160T>C (p.Phe54Leu) c.604T>C (p.Phe202Leu) | |
12 | g.20862815T>G | CA384092262 | SLCO1B3,SLCO1B3-SLCO1B7 | c.688T>G (p.Phe230Val) c.359+4244T>G (n.359+4244T>G) c.160T>G (p.Phe54Val) c.604T>G (p.Phe202Val) | |
12 | g.20862816T>A | CA384092264 | SLCO1B3,SLCO1B3-SLCO1B7 | c.689T>A (p.Phe230Tyr) c.359+4245T>A (n.359+4245T>A) c.161T>A (p.Phe54Tyr) c.605T>A (p.Phe202Tyr) | |
12 | g.20862816T>C | CA384092265 | SLCO1B3,SLCO1B3-SLCO1B7 | c.689T>C (p.Phe230Ser) c.359+4245T>C (n.359+4245T>C) c.161T>C (p.Phe54Ser) c.605T>C (p.Phe202Ser) | dbSNP |
12 | g.20862816T>G | CA384092266 | SLCO1B3,SLCO1B3-SLCO1B7 | c.689T>G (p.Phe230Cys) c.359+4245T>G (n.359+4245T>G) c.161T>G (p.Phe54Cys) c.605T>G (p.Phe202Cys) | |
12 | g.20862816T= | CA2020845743 | SLCO1B3,SLCO1B3-SLCO1B7 | c.689T= (p.Phe230=) c.359+4245T= (n.359+4245T=) c.161T= (p.Phe54=) c.605T= (p.Phe202=) | |
12 | g.20862817T>A | CA384092267 | SLCO1B3,SLCO1B3-SLCO1B7 | c.690T>A (p.Phe230Leu) c.359+4246T>A (n.359+4246T>A) c.162T>A (p.Phe54Leu) c.606T>A (p.Phe202Leu) | |
12 | g.20862817T>C | CA478855020 | SLCO1B3,SLCO1B3-SLCO1B7 | c.690T>C (p.Phe230=) c.359+4246T>C (n.359+4246T>C) c.162T>C (p.Phe54=) c.606T>C (p.Phe202=) | |
12 | g.20862817T>G | CA384092268 | SLCO1B3,SLCO1B3-SLCO1B7 | c.690T>G (p.Phe230Leu) c.359+4246T>G (n.359+4246T>G) c.162T>G (p.Phe54Leu) c.606T>G (p.Phe202Leu) | |
12 | g.20862818G>A | CA384092269 | SLCO1B3,SLCO1B3-SLCO1B7 | c.691G>A (p.Ala231Thr) c.359+4247G>A (n.359+4247G>A) c.163G>A (p.Ala55Thr) c.607G>A (p.Ala203Thr) | |
12 | g.20862818G>C | CA384092270 | SLCO1B3,SLCO1B3-SLCO1B7 | c.691G>C (p.Ala231Pro) c.359+4247G>C (n.359+4247G>C) c.163G>C (p.Ala55Pro) c.607G>C (p.Ala203Pro) | |
12 | g.20862818G>T | CA384092271 | SLCO1B3,SLCO1B3-SLCO1B7 | c.691G>T (p.Ala231Ser) c.359+4247G>T (n.359+4247G>T) c.163G>T (p.Ala55Ser) c.607G>T (p.Ala203Ser) | |
12 | g.20862819C>A | CA384092272 | SLCO1B3,SLCO1B3-SLCO1B7 | c.692C>A (p.Ala231Asp) c.359+4248C>A (n.359+4248C>A) c.164C>A (p.Ala55Asp) c.608C>A (p.Ala203Asp) | gnomAD v4 |
12 | g.20862819C>G | CA384092273 | SLCO1B3,SLCO1B3-SLCO1B7 | c.692C>G (p.Ala231Gly) c.359+4248C>G (n.359+4248C>G) c.164C>G (p.Ala55Gly) c.608C>G (p.Ala203Gly) | |
12 | g.20862819C>T | CA384092274 | SLCO1B3,SLCO1B3-SLCO1B7 | c.692C>T (p.Ala231Val) c.359+4248C>T (n.359+4248C>T) c.164C>T (p.Ala55Val) c.608C>T (p.Ala203Val) | |
12 | g.20862820T>A | CA478855021 | SLCO1B3,SLCO1B3-SLCO1B7 | c.693T>A (p.Ala231=) c.359+4249T>A (n.359+4249T>A) c.165T>A (p.Ala55=) c.609T>A (p.Ala203=) | |
12 | g.20862820T>C | CA478855022 | SLCO1B3,SLCO1B3-SLCO1B7 | c.693T>C (p.Ala231=) c.359+4249T>C (n.359+4249T>C) c.165T>C (p.Ala55=) c.609T>C (p.Ala203=) | |
12 | g.20862820T>G | CA478855023 | SLCO1B3,SLCO1B3-SLCO1B7 | c.693T>G (p.Ala231=) c.359+4249T>G (n.359+4249T>G) c.165T>G (p.Ala55=) c.609T>G (p.Ala203=) | |
12 | g.20862821A= | CA2020845744 | SLCO1B3,SLCO1B3-SLCO1B7 | c.694A= (p.Lys232=) c.359+4250A= (n.359+4250A=) c.166A= (p.Lys56=) c.610A= (p.Lys204=) | |
12 | g.20862821A>C | CA384092276 | SLCO1B3,SLCO1B3-SLCO1B7 | c.694A>C (p.Lys232Gln) c.359+4250A>C (n.359+4250A>C) c.166A>C (p.Lys56Gln) c.610A>C (p.Lys204Gln) | |
12 | g.20862821A>G | CA6475296 | SLCO1B3,SLCO1B3-SLCO1B7 | c.694A>G (p.Lys232Glu) c.359+4250A>G (n.359+4250A>G) c.166A>G (p.Lys56Glu) c.610A>G (p.Lys204Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862821A>T | CA384092275 | SLCO1B3,SLCO1B3-SLCO1B7 | c.694A>T (p.Lys232Ter) c.359+4250A>T (n.359+4250A>T) c.166A>T (p.Lys56Ter) c.610A>T (p.Lys204Ter) | |
12 | g.20862824del | CA2617889789 | SLCO1B3,SLCO1B3-SLCO1B7 | c.697del (p.Met233CysfsTer8) c.359+4253del (n.359+4253del) c.169del (p.Met57CysfsTer8) c.613del (p.Met205CysfsTer8) | gnomAD v4 |
12 | g.20862822A>C | CA384092279 | SLCO1B3,SLCO1B3-SLCO1B7 | c.695A>C (p.Lys232Thr) c.359+4251A>C (n.359+4251A>C) c.167A>C (p.Lys56Thr) c.611A>C (p.Lys204Thr) | |
12 | g.20862822A>G | CA384092277 | SLCO1B3,SLCO1B3-SLCO1B7 | c.695A>G (p.Lys232Arg) c.359+4251A>G (n.359+4251A>G) c.167A>G (p.Lys56Arg) c.611A>G (p.Lys204Arg) | gnomAD v4 |
12 | g.20862822A>T | CA384092278 | SLCO1B3,SLCO1B3-SLCO1B7 | c.695A>T (p.Lys232Ile) c.359+4251A>T (n.359+4251A>T) c.167A>T (p.Lys56Ile) c.611A>T (p.Lys204Ile) | |
12 | g.20862823A>C | CA384092280 | SLCO1B3,SLCO1B3-SLCO1B7 | c.696A>C (p.Lys232Asn) c.359+4252A>C (n.359+4252A>C) c.168A>C (p.Lys56Asn) c.612A>C (p.Lys204Asn) | |
12 | g.20862823A>G | CA478855024 | SLCO1B3,SLCO1B3-SLCO1B7 | c.696A>G (p.Lys232=) c.359+4252A>G (n.359+4252A>G) c.168A>G (p.Lys56=) c.612A>G (p.Lys204=) | |
12 | g.20862823A>T | CA384092281 | SLCO1B3,SLCO1B3-SLCO1B7 | c.696A>T (p.Lys232Asn) c.359+4252A>T (n.359+4252A>T) c.168A>T (p.Lys56Asn) c.612A>T (p.Lys204Asn) | |
12 | g.20862824A= | CA2020845745 | SLCO1B3,SLCO1B3-SLCO1B7 | c.697A= (p.Met233=) c.359+4253A= (n.359+4253A=) c.169A= (p.Met57=) c.613A= (p.Met205=) | |
12 | g.20862824A>C | CA6475297 | SLCO1B3,SLCO1B3-SLCO1B7 | c.697A>C (p.Met233Leu) c.359+4253A>C (n.359+4253A>C) c.169A>C (p.Met57Leu) c.613A>C (p.Met205Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862824A>G | CA384092282 | SLCO1B3,SLCO1B3-SLCO1B7 | c.697A>G (p.Met233Val) c.359+4253A>G (n.359+4253A>G) c.169A>G (p.Met57Val) c.613A>G (p.Met205Val) | |
12 | g.20862824A>T | CA384092283 | SLCO1B3,SLCO1B3-SLCO1B7 | c.697A>T (p.Met233Leu) c.359+4253A>T (n.359+4253A>T) c.169A>T (p.Met57Leu) c.613A>T (p.Met205Leu) | |
12 | g.20862825T>A | CA384092284 | SLCO1B3,SLCO1B3-SLCO1B7 | c.698T>A (p.Met233Lys) c.359+4254T>A (n.359+4254T>A) c.170T>A (p.Met57Lys) c.614T>A (p.Met205Lys) | |
12 | g.20862825T>C | CA384092285 | SLCO1B3,SLCO1B3-SLCO1B7 | c.698T>C (p.Met233Thr) c.359+4254T>C (n.359+4254T>C) c.170T>C (p.Met57Thr) c.614T>C (p.Met205Thr) | |
12 | g.20862825T>G | CA384092286 | SLCO1B3,SLCO1B3-SLCO1B7 | c.698T>G (p.Met233Arg) c.359+4254T>G (n.359+4254T>G) c.170T>G (p.Met57Arg) c.614T>G (p.Met205Arg) | |
12 | g.20862826G>A | CA6475298 | SLCO1B3,SLCO1B3-SLCO1B7 | c.699G>A (p.Met233Ile) c.359+4255G>A (n.359+4255G>A) c.171G>A (p.Met57Ile) c.615G>A (p.Met205Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862826G>C | CA384092287 | SLCO1B3,SLCO1B3-SLCO1B7 | c.699G>C (p.Met233Ile) c.359+4255G>C (n.359+4255G>C) c.171G>C (p.Met57Ile) c.615G>C (p.Met205Ile) | |
12 | g.20862826G= | CA2020845746 | SLCO1B3,SLCO1B3-SLCO1B7 | c.699G= (p.Met233=) c.359+4255G= (n.359+4255G=) c.171G= (p.Met57=) c.615G= (p.Met205=) | |
12 | g.20862826G>T | CA384092288 | SLCO1B3,SLCO1B3-SLCO1B7 | c.699G>T (p.Met233Ile) c.359+4255G>T (n.359+4255G>T) c.171G>T (p.Met57Ile) c.615G>T (p.Met205Ile) | |
12 | g.20862827T>A | CA384092291 | SLCO1B3,SLCO1B3-SLCO1B7 | c.700T>A (p.Tyr234Asn) c.359+4256T>A (n.359+4256T>A) c.172T>A (p.Tyr58Asn) c.616T>A (p.Tyr206Asn) | |
12 | g.20862827T>C | CA384092289 | SLCO1B3,SLCO1B3-SLCO1B7 | c.700T>C (p.Tyr234His) c.359+4256T>C (n.359+4256T>C) c.172T>C (p.Tyr58His) c.616T>C (p.Tyr206His) | |
12 | g.20862827T>G | CA384092290 | SLCO1B3,SLCO1B3-SLCO1B7 | c.700T>G (p.Tyr234Asp) c.359+4256T>G (n.359+4256T>G) c.172T>G (p.Tyr58Asp) c.616T>G (p.Tyr206Asp) | |
12 | g.20862827_20862828insCC | CA2617889799 | SLCO1B3,SLCO1B3-SLCO1B7 | c.700_701insCC (p.Tyr234SerfsTer8) c.359+4256_359+4257insCC (n.359+4256_359+4257insCC) c.172_173insCC (p.Tyr58SerfsTer8) c.616_617insCC (p.Tyr206SerfsTer8) | gnomAD v4 |
12 | g.20862828A>C | CA384092292 | SLCO1B3,SLCO1B3-SLCO1B7 | c.701A>C (p.Tyr234Ser) c.359+4257A>C (n.359+4257A>C) c.173A>C (p.Tyr58Ser) c.617A>C (p.Tyr206Ser) | |
12 | g.20862828A>G | CA384092293 | SLCO1B3,SLCO1B3-SLCO1B7 | c.701A>G (p.Tyr234Cys) c.359+4257A>G (n.359+4257A>G) c.173A>G (p.Tyr58Cys) c.617A>G (p.Tyr206Cys) | gnomAD v4 |
12 | g.20862828A>T | CA384092294 | SLCO1B3,SLCO1B3-SLCO1B7 | c.701A>T (p.Tyr234Phe) c.359+4257A>T (n.359+4257A>T) c.173A>T (p.Tyr58Phe) c.617A>T (p.Tyr206Phe) | |
12 | g.20862829C>A | CA384092295 | SLCO1B3,SLCO1B3-SLCO1B7 | c.702C>A (p.Tyr234Ter) c.359+4258C>A (n.359+4258C>A) c.174C>A (p.Tyr58Ter) c.618C>A (p.Tyr206Ter) | gnomAD v4 |
12 | g.20862829C= | CA2020845747 | SLCO1B3,SLCO1B3-SLCO1B7 | c.702C= (p.Tyr234=) c.359+4258C= (n.359+4258C=) c.174C= (p.Tyr58=) c.618C= (p.Tyr206=) | |
12 | g.20862829C>G | CA6475300 | SLCO1B3,SLCO1B3-SLCO1B7 | c.702C>G (p.Tyr234Ter) c.359+4258C>G (n.359+4258C>G) c.174C>G (p.Tyr58Ter) c.618C>G (p.Tyr206Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.20862829C>T | CA6475299 | SLCO1B3,SLCO1B3-SLCO1B7 | c.702C>T (p.Tyr234=) c.359+4258C>T (n.359+4258C>T) c.174C>T (p.Tyr58=) c.618C>T (p.Tyr206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862830G>A | CA233479674 | SLCO1B3,SLCO1B3-SLCO1B7 | c.703G>A (p.Val235Met) c.359+4259G>A (n.359+4259G>A) c.175G>A (p.Val59Met) c.619G>A (p.Val207Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862830G>C | CA384092296 | SLCO1B3,SLCO1B3-SLCO1B7 | c.703G>C (p.Val235Leu) c.359+4259G>C (n.359+4259G>C) c.175G>C (p.Val59Leu) c.619G>C (p.Val207Leu) | gnomAD v4 |
12 | g.20862830G= | CA2020845748 | SLCO1B3,SLCO1B3-SLCO1B7 | c.703G= (p.Val235=) c.359+4259G= (n.359+4259G=) c.175G= (p.Val59=) c.619G= (p.Val207=) | |
12 | g.20862830G>T | CA384092297 | SLCO1B3,SLCO1B3-SLCO1B7 | c.703G>T (p.Val235Leu) c.359+4259G>T (n.359+4259G>T) c.175G>T (p.Val59Leu) c.619G>T (p.Val207Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.20862831T>A | CA384092298 | SLCO1B3,SLCO1B3-SLCO1B7 | c.704T>A (p.Val235Glu) c.359+4260T>A (n.359+4260T>A) c.176T>A (p.Val59Glu) c.620T>A (p.Val207Glu) | |
12 | g.20862831T>C | CA384092299 | SLCO1B3,SLCO1B3-SLCO1B7 | c.704T>C (p.Val235Ala) c.359+4260T>C (n.359+4260T>C) c.176T>C (p.Val59Ala) c.620T>C (p.Val207Ala) | |
12 | g.20862831T>G | CA384092300 | SLCO1B3,SLCO1B3-SLCO1B7 | c.704T>G (p.Val235Gly) c.359+4260T>G (n.359+4260T>G) c.176T>G (p.Val59Gly) c.620T>G (p.Val207Gly) | |
12 | g.20862838_20862844del | CA2617889823 | SLCO1B3,SLCO1B3-SLCO1B7 | c.711_717del (p.Ile237MetfsTer2) c.359+4267_359+4273del (n.359+4267_359+4273del) c.183_189del (p.Ile61MetfsTer2) c.627_633del (p.Ile209MetfsTer2) | gnomAD v4 |
12 | g.20862832G>A | CA478855025 | SLCO1B3,SLCO1B3-SLCO1B7 | c.705G>A (p.Val235=) c.359+4261G>A (n.359+4261G>A) c.177G>A (p.Val59=) c.621G>A (p.Val207=) | gnomAD v4 |
12 | g.20862832G>C | CA478855026 | SLCO1B3,SLCO1B3-SLCO1B7 | c.705G>C (p.Val235=) c.359+4261G>C (n.359+4261G>C) c.177G>C (p.Val59=) c.621G>C (p.Val207=) | |
12 | g.20862832G>T | CA478855027 | SLCO1B3,SLCO1B3-SLCO1B7 | c.705G>T (p.Val235=) c.359+4261G>T (n.359+4261G>T) c.177G>T (p.Val59=) c.621G>T (p.Val207=) | |
12 | g.20862832_20862833del | CA2617889827 | SLCO1B3,SLCO1B3-SLCO1B7 | c.705_706del (p.Asp236TyrfsTer14) c.359+4261_359+4262del (n.359+4261_359+4262del) c.177_178del (p.Asp60TyrfsTer14) c.621_622del (p.Asp208TyrfsTer14) | gnomAD v4 |
12 | g.20862833G>A | CA384092302 | SLCO1B3,SLCO1B3-SLCO1B7 | c.706G>A (p.Asp236Asn) c.359+4262G>A (n.359+4262G>A) c.178G>A (p.Asp60Asn) c.622G>A (p.Asp208Asn) | |
12 | g.20862833G>C | CA384092303 | SLCO1B3,SLCO1B3-SLCO1B7 | c.706G>C (p.Asp236His) c.359+4262G>C (n.359+4262G>C) c.178G>C (p.Asp60His) c.622G>C (p.Asp208His) | |
12 | g.20862833G= | CA2020845749 | SLCO1B3,SLCO1B3-SLCO1B7 | c.706G= (p.Asp236=) c.359+4262G= (n.359+4262G=) c.178G= (p.Asp60=) c.622G= (p.Asp208=) | |
12 | g.20862833G>T | CA384092301 | SLCO1B3,SLCO1B3-SLCO1B7 | c.706G>T (p.Asp236Tyr) c.359+4262G>T (n.359+4262G>T) c.178G>T (p.Asp60Tyr) c.622G>T (p.Asp208Tyr) | dbSNP gnomAD v4 |
12 | g.20862834A>C | CA384092304 | SLCO1B3,SLCO1B3-SLCO1B7 | c.707A>C (p.Asp236Ala) c.359+4263A>C (n.359+4263A>C) c.179A>C (p.Asp60Ala) c.623A>C (p.Asp208Ala) | |
12 | g.20862834A>G | CA384092305 | SLCO1B3,SLCO1B3-SLCO1B7 | c.707A>G (p.Asp236Gly) c.359+4263A>G (n.359+4263A>G) c.179A>G (p.Asp60Gly) c.623A>G (p.Asp208Gly) | |
12 | g.20862834A>T | CA384092306 | SLCO1B3,SLCO1B3-SLCO1B7 | c.707A>T (p.Asp236Val) c.359+4263A>T (n.359+4263A>T) c.179A>T (p.Asp60Val) c.623A>T (p.Asp208Val) | |
12 | g.20862835T>A | CA384092307 | SLCO1B3,SLCO1B3-SLCO1B7 | c.708T>A (p.Asp236Glu) c.359+4264T>A (n.359+4264T>A) c.180T>A (p.Asp60Glu) c.624T>A (p.Asp208Glu) | |
12 | g.20862835T>C | CA478855028 | SLCO1B3,SLCO1B3-SLCO1B7 | c.708T>C (p.Asp236=) c.359+4264T>C (n.359+4264T>C) c.180T>C (p.Asp60=) c.624T>C (p.Asp208=) | |
12 | g.20862835T>G | CA384092308 | SLCO1B3,SLCO1B3-SLCO1B7 | c.708T>G (p.Asp236Glu) c.359+4264T>G (n.359+4264T>G) c.180T>G (p.Asp60Glu) c.624T>G (p.Asp208Glu) | |
12 | g.20862836A>C | CA384092309 | SLCO1B3,SLCO1B3-SLCO1B7 | c.709A>C (p.Ile237Leu) c.359+4265A>C (n.359+4265A>C) c.181A>C (p.Ile61Leu) c.625A>C (p.Ile209Leu) | |
12 | g.20862836A>G | CA384092310 | SLCO1B3,SLCO1B3-SLCO1B7 | c.709A>G (p.Ile237Val) c.359+4265A>G (n.359+4265A>G) c.181A>G (p.Ile61Val) c.625A>G (p.Ile209Val) | |
12 | g.20862836A>T | CA384092311 | SLCO1B3,SLCO1B3-SLCO1B7 | c.709A>T (p.Ile237Phe) c.359+4265A>T (n.359+4265A>T) c.181A>T (p.Ile61Phe) c.625A>T (p.Ile209Phe) | |
12 | g.20862837T>A | CA384092312 | SLCO1B3,SLCO1B3-SLCO1B7 | c.710T>A (p.Ile237Asn) c.359+4266T>A (n.359+4266T>A) c.182T>A (p.Ile61Asn) c.626T>A (p.Ile209Asn) | COSMIC |
12 | g.20862837T>C | CA384092314 | SLCO1B3,SLCO1B3-SLCO1B7 | c.710T>C (p.Ile237Thr) c.359+4266T>C (n.359+4266T>C) c.182T>C (p.Ile61Thr) c.626T>C (p.Ile209Thr) | gnomAD v4 |
12 | g.20862837T>G | CA384092313 | SLCO1B3,SLCO1B3-SLCO1B7 | c.710T>G (p.Ile237Ser) c.359+4266T>G (n.359+4266T>G) c.182T>G (p.Ile61Ser) c.626T>G (p.Ile209Ser) | |
12 | g.20862837_20862838dup | CA2617889836 | SLCO1B3,SLCO1B3-SLCO1B7 | c.710_711dup (p.Gly238LeufsTer4) c.359+4266_359+4267dup (n.359+4266_359+4267dup) c.182_183dup (p.Gly62LeufsTer4) c.626_627dup (p.Gly210LeufsTer4) | gnomAD v4 |
12 | g.20862838T>A | CA478855029 | SLCO1B3,SLCO1B3-SLCO1B7 | c.711T>A (p.Ile237=) c.359+4267T>A (n.359+4267T>A) c.183T>A (p.Ile61=) c.627T>A (p.Ile209=) | |
12 | g.20862838T>C | CA478855030 | SLCO1B3,SLCO1B3-SLCO1B7 | c.711T>C (p.Ile237=) c.359+4267T>C (n.359+4267T>C) c.183T>C (p.Ile61=) c.627T>C (p.Ile209=) | gnomAD v4 |
12 | g.20862838T>G | CA384092315 | SLCO1B3,SLCO1B3-SLCO1B7 | c.711T>G (p.Ile237Met) c.359+4267T>G (n.359+4267T>G) c.183T>G (p.Ile61Met) c.627T>G (p.Ile209Met) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862838T= | CA2020845750 | SLCO1B3,SLCO1B3-SLCO1B7 | c.711T= (p.Ile237=) c.359+4267T= (n.359+4267T=) c.183T= (p.Ile61=) c.627T= (p.Ile209=) | |
12 | g.20862839G>A | CA6475301 | SLCO1B3,SLCO1B3-SLCO1B7 | c.712G>A (p.Gly238Arg) c.359+4268G>A (n.359+4268G>A) c.184G>A (p.Gly62Arg) c.628G>A (p.Gly210Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.20862839G>C | CA384092316 | SLCO1B3,SLCO1B3-SLCO1B7 | c.712G>C (p.Gly238Arg) c.359+4268G>C (n.359+4268G>C) c.184G>C (p.Gly62Arg) c.628G>C (p.Gly210Arg) | |
12 | g.20862839G= | CA2020845751 | SLCO1B3,SLCO1B3-SLCO1B7 | c.712G= (p.Gly238=) c.359+4268G= (n.359+4268G=) c.184G= (p.Gly62=) c.628G= (p.Gly210=) | |
12 | g.20862839G>T | CA384092317 | SLCO1B3,SLCO1B3-SLCO1B7 | c.712G>T (p.Gly238Ter) c.359+4268G>T (n.359+4268G>T) c.184G>T (p.Gly62Ter) c.628G>T (p.Gly210Ter) | |
12 | g.20862840G>A | CA384092318 | SLCO1B3,SLCO1B3-SLCO1B7 | c.713G>A (p.Gly238Glu) c.359+4269G>A (n.359+4269G>A) c.185G>A (p.Gly62Glu) c.629G>A (p.Gly210Glu) | |
12 | g.20862840G>C | CA384092319 | SLCO1B3,SLCO1B3-SLCO1B7 | c.713G>C (p.Gly238Ala) c.359+4269G>C (n.359+4269G>C) c.185G>C (p.Gly62Ala) c.629G>C (p.Gly210Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862840G= | CA2020845752 | SLCO1B3,SLCO1B3-SLCO1B7 | c.713G= (p.Gly238=) c.359+4269G= (n.359+4269G=) c.185G= (p.Gly62=) c.629G= (p.Gly210=) | |
12 | g.20862840G>T | CA233479677 | SLCO1B3,SLCO1B3-SLCO1B7 | c.713G>T (p.Gly238Val) c.359+4269G>T (n.359+4269G>T) c.185G>T (p.Gly62Val) c.629G>T (p.Gly210Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.20862841A>C | CA478855031 | SLCO1B3,SLCO1B3-SLCO1B7 | c.714A>C (p.Gly238=) c.359+4270A>C (n.359+4270A>C) c.186A>C (p.Gly62=) c.630A>C (p.Gly210=) | |
12 | g.20862841A>G | CA478855032 | SLCO1B3,SLCO1B3-SLCO1B7 | c.714A>G (p.Gly238=) c.359+4270A>G (n.359+4270A>G) c.186A>G (p.Gly62=) c.630A>G (p.Gly210=) | gnomAD v4 |
12 | g.20862841A>T | CA478855033 | SLCO1B3,SLCO1B3-SLCO1B7 | c.714A>T (p.Gly238=) c.359+4270A>T (n.359+4270A>T) c.186A>T (p.Gly62=) c.630A>T (p.Gly210=) | |
12 | g.20862842T>A | CA384092320 | SLCO1B3,SLCO1B3-SLCO1B7 | c.715T>A (p.Tyr239Asn) c.359+4271T>A (n.359+4271T>A) c.187T>A (p.Tyr63Asn) c.631T>A (p.Tyr211Asn) | |
12 | g.20862842T>C | CA384092321 | SLCO1B3,SLCO1B3-SLCO1B7 | c.715T>C (p.Tyr239His) c.359+4271T>C (n.359+4271T>C) c.187T>C (p.Tyr63His) c.631T>C (p.Tyr211His) | gnomAD v4 |
12 | g.20862842T>G | CA384092322 | SLCO1B3,SLCO1B3-SLCO1B7 | c.715T>G (p.Tyr239Asp) c.359+4271T>G (n.359+4271T>G) c.187T>G (p.Tyr63Asp) c.631T>G (p.Tyr211Asp) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.20862842T= | CA2020845753 | SLCO1B3,SLCO1B3-SLCO1B7 | c.715T= (p.Tyr239=) c.359+4271T= (n.359+4271T=) c.187T= (p.Tyr63=) c.631T= (p.Tyr211=) | |
12 | g.20862843A>C | CA384092323 | SLCO1B3,SLCO1B3-SLCO1B7 | c.716A>C (p.Tyr239Ser) c.359+4272A>C (n.359+4272A>C) c.188A>C (p.Tyr63Ser) c.632A>C (p.Tyr211Ser) | |
12 | g.20862843A>G | CA384092324 | SLCO1B3,SLCO1B3-SLCO1B7 | c.716A>G (p.Tyr239Cys) c.359+4272A>G (n.359+4272A>G) c.188A>G (p.Tyr63Cys) c.632A>G (p.Tyr211Cys) | gnomAD v3 gnomAD v4 |
12 | g.20862843A>T | CA384092325 | SLCO1B3,SLCO1B3-SLCO1B7 | c.716A>T (p.Tyr239Phe) c.359+4272A>T (n.359+4272A>T) c.188A>T (p.Tyr63Phe) c.632A>T (p.Tyr211Phe) | |
12 | g.20862844T>A | CA384092326 | SLCO1B3,SLCO1B3-SLCO1B7 | c.717T>A (p.Tyr239Ter) c.359+4273T>A (n.359+4273T>A) c.189T>A (p.Tyr63Ter) c.633T>A (p.Tyr211Ter) | |
12 | g.20862844T>C | CA478855034 | SLCO1B3,SLCO1B3-SLCO1B7 | c.717T>C (p.Tyr239=) c.359+4273T>C (n.359+4273T>C) c.189T>C (p.Tyr63=) c.633T>C (p.Tyr211=) | dbSNP gnomAD v4 |
12 | g.20862844T>G | CA384092327 | SLCO1B3,SLCO1B3-SLCO1B7 | c.717T>G (p.Tyr239Ter) c.359+4273T>G (n.359+4273T>G) c.189T>G (p.Tyr63Ter) c.633T>G (p.Tyr211Ter) | |
12 | g.20862844T= | CA2020845754 | SLCO1B3,SLCO1B3-SLCO1B7 | c.717T= (p.Tyr239=) c.359+4273T= (n.359+4273T=) c.189T= (p.Tyr63=) c.633T= (p.Tyr211=) | |
12 | g.20862845G>A | CA384092328 | SLCO1B3,SLCO1B3-SLCO1B7 | c.718G>A (p.Val240Ile) c.359+4274G>A (n.359+4274G>A) c.190G>A (p.Val64Ile) c.634G>A (p.Val212Ile) | gnomAD v4 |
12 | g.20862845G>C | CA384092329 | SLCO1B3,SLCO1B3-SLCO1B7 | c.718G>C (p.Val240Leu) c.359+4274G>C (n.359+4274G>C) c.190G>C (p.Val64Leu) c.634G>C (p.Val212Leu) | |
12 | g.20862845G>T | CA384092330 | SLCO1B3,SLCO1B3-SLCO1B7 | c.718G>T (p.Val240Leu) c.359+4274G>T (n.359+4274G>T) c.190G>T (p.Val64Leu) c.634G>T (p.Val212Leu) |