| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20858434dup | CA6475107 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-5dup (n.227-5dup) n.79-5dup c.143-5dup (n.143-5dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858433_20858434dup | CA2617887928 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-6_227-5dup (n.227-6_227-5dup) n.79-6_79-5dup c.143-6_143-5dup (n.143-6_143-5dup) | gnomAD v4 |
| 12 | g.20858432_20858434dup | CA2617887925 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-7_227-5dup (n.227-7_227-5dup) n.79-7_79-5dup c.143-7_143-5dup (n.143-7_143-5dup) | gnomAD v4 |
| 12 | g.20858434del | CA6475108 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-5del (n.227-5del) n.79-5del c.143-5del (n.143-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858432T>C | CA2617887932 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-7T>C (n.227-7T>C) n.79-7T>C c.143-7T>C (n.143-7T>C) | gnomAD v4 |
| 12 | g.20858432T>G | CA6475112 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-7T>G (n.227-7T>G) n.79-7T>G c.143-7T>G (n.143-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858432T= | CA2020843369 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-7T= (n.227-7T=) n.79-7T= c.143-7T= (n.143-7T=) | |
| 12 | g.20858434T>C | CA603649720 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-5T>C (n.227-5T>C) n.79-5T>C c.143-5T>C (n.143-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.20858434T>G | CA2575095546 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-5T>G (n.227-5T>G) n.79-5T>G c.143-5T>G (n.143-5T>G) | |
| 12 | g.20858434T= | CA2020843370 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-5T= (n.227-5T=) n.79-5T= c.143-5T= (n.143-5T=) | |
| 12 | g.20858435C>A | CA2617887936 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-4C>A (n.227-4C>A) n.79-4C>A c.143-4C>A (n.143-4C>A) | gnomAD v4 |
| 12 | g.20858435C= | CA2020843371 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-4C= (n.227-4C=) n.79-4C= c.143-4C= (n.143-4C=) | |
| 12 | g.20858435C>G | CA6475113 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-4C>G (n.227-4C>G) n.79-4C>G c.143-4C>G (n.143-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858435C>T | CA603649721 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-4C>T (n.227-4C>T) n.79-4C>T c.143-4C>T (n.143-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.20858437A= | CA2020843372 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2A= (n.227-2A=) n.79-2A= c.143-2A= (n.143-2A=) | |
| 12 | g.20858437A>C | CA384098720 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2A>C (n.227-2A>C) n.79-2A>C c.143-2A>C (n.143-2A>C) | |
| 12 | g.20858437A>G | CA384098721 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2A>G (n.227-2A>G) n.79-2A>G c.143-2A>G (n.143-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858437A>T | CA384098722 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2A>T (n.227-2A>T) n.79-2A>T c.143-2A>T (n.143-2A>T) | dbSNP gnomAD v4 |
| 12 | g.20858437_20858442del | CA2617887944 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2_230del n.79-2_82del c.143-2_146del | gnomAD v4 |
| 12 | g.20858438G>A | CA384098723 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-1G>A (n.227-1G>A) n.79-1G>A c.143-1G>A (n.143-1G>A) | |
| 12 | g.20858438G>C | CA6475114 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-1G>C (n.227-1G>C) n.79-1G>C c.143-1G>C (n.143-1G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858438G= | CA2020843373 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-1G= (n.227-1G=) n.79-1G= c.143-1G= (n.143-1G=) | |
| 12 | g.20858438G>T | CA384098724 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-1G>T (n.227-1G>T) n.79-1G>T c.143-1G>T (n.143-1G>T) | COSMIC |
| 12 | g.20858439G>A | CA384098726 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227G>A (p.Gly76Glu) n.79G>A c.143G>A (p.Gly48Glu) | gnomAD v4 |
| 12 | g.20858439G>C | CA384098725 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227G>C (p.Gly76Ala) n.79G>C c.143G>C (p.Gly48Ala) | |
| 12 | g.20858439G= | CA2020843374 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227G= (p.Gly76=) n.79G= c.143G= (p.Gly48=) | |
| 12 | g.20858439G>T | CA6475115 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227G>T (p.Gly76Val) n.79G>T c.143G>T (p.Gly48Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858440A>C | CA478862076 | SLCO1B3,SLCO1B3-SLCO1B7 | c.228A>C (p.Gly76=) n.80A>C c.144A>C (p.Gly48=) | |
| 12 | g.20858440A>G | CA478862077 | SLCO1B3,SLCO1B3-SLCO1B7 | c.228A>G (p.Gly76=) n.80A>G c.144A>G (p.Gly48=) | |
| 12 | g.20858440A>T | CA478862078 | SLCO1B3,SLCO1B3-SLCO1B7 | c.228A>T (p.Gly76=) n.80A>T c.144A>T (p.Gly48=) | |
| 12 | g.20858441A>C | CA384098728 | SLCO1B3,SLCO1B3-SLCO1B7 | c.229A>C (p.Asn77His) n.81A>C c.145A>C (p.Asn49His) | |
| 12 | g.20858441A>G | CA384098729 | SLCO1B3,SLCO1B3-SLCO1B7 | c.229A>G (p.Asn77Asp) n.81A>G c.145A>G (p.Asn49Asp) | |
| 12 | g.20858441A>T | CA384098730 | SLCO1B3,SLCO1B3-SLCO1B7 | c.229A>T (p.Asn77Tyr) n.81A>T c.145A>T (p.Asn49Tyr) | |
| 12 | g.20858442A= | CA2020843375 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A= (p.Asn77=) n.82A= c.146A= (p.Asn49=) | |
| 12 | g.20858442A>C | CA384098732 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>C (p.Asn77Thr) n.82A>C c.146A>C (p.Asn49Thr) | |
| 12 | g.20858442A>G | CA6475116 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>G (p.Asn77Ser) n.82A>G c.146A>G (p.Asn49Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858442A>T | CA384098735 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>T (p.Asn77Ile) n.82A>T c.146A>T (p.Asn49Ile) | |
| 12 | g.20858443T>A | CA384098736 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>A (p.Asn77Lys) n.83T>A c.147T>A (p.Asn49Lys) | |
| 12 | g.20858443T>C | CA478862081 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>C (p.Asn77=) n.83T>C c.147T>C (p.Asn49=) | |
| 12 | g.20858443T>G | CA384098737 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>G (p.Asn77Lys) n.83T>G c.147T>G (p.Asn49Lys) | |
| 12 | g.20858444T>A | CA384098740 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>A (p.Leu78Met) n.84T>A c.148T>A (p.Leu50Met) | |
| 12 | g.20858444T>C | CA478862082 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>C (p.Leu78=) n.84T>C c.148T>C (p.Leu50=) | |
| 12 | g.20858444T>G | CA6475117 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>G (p.Leu78Val) n.84T>G c.148T>G (p.Leu50Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858444T= | CA2020843376 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T= (p.Leu78=) n.84T= c.148T= (p.Leu50=) | |
| 12 | g.20858445T>A | CA384098742 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>A (p.Leu78Ter) n.85T>A c.149T>A (p.Leu50Ter) | |
| 12 | g.20858445T>C | CA384098744 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>C (p.Leu78Ser) n.85T>C c.149T>C (p.Leu50Ser) | |
| 12 | g.20858445T>G | CA384098746 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>G (p.Leu78Trp) n.85T>G c.149T>G (p.Leu50Trp) | |
| 12 | g.20858446G>A | CA478862086 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>A (p.Leu78=) n.86G>A c.150G>A (p.Leu50=) | |
| 12 | g.20858446G>C | CA384098747 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>C (p.Leu78Phe) n.86G>C c.150G>C (p.Leu50Phe) | |
| 12 | g.20858446G= | CA2020843377 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G= (p.Leu78=) n.86G= c.150G= (p.Leu50=) |