Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |