UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 12 | g.21176816A>G | CA384104825 | SLCO1B1 | c.400A>G (p.Asn134Asp) c.466A>G | |
| 12 | g.21176816A>T | CA384104826 | SLCO1B1 | c.400A>T (p.Asn134Tyr) c.466A>T | |
| 12 | g.21176817A= | CA2020990599 | SLCO1B1 | c.401A= (p.Asn134=) c.467A= | |
| 12 | g.21176817A>C | CA6476677 | SLCO1B1 | c.401A>C (p.Asn134Thr) c.467A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176817A>G | CA384104827 | SLCO1B1 | c.401A>G (p.Asn134Ser) c.467A>G | |
| 12 | g.21176817A>T | CA384104828 | SLCO1B1 | c.401A>T (p.Asn134Ile) c.467A>T | |
| 12 | g.21176817_21176818delinsAT | CA2020990600 | SLCO1B1 | c.401_402delinsAT (p.Asn134=) c.467_468delinsAT | |
| 12 | g.21176818T>A | CA384104829 | SLCO1B1 | c.402T>A (p.Asn134Lys) c.468T>A | |
| 12 | g.21176818T>C | CA478866782 | SLCO1B1 | c.402T>C (p.Asn134=) c.468T>C | |
| 12 | g.21176818T>G | CA384104830 | SLCO1B1 | c.402T>G (p.Asn134Lys) c.468T>G | |
| 12 | g.21176819del | CA2020990601 | SLCO1B1 | c.403del (p.Ser135GlnfsTer9) c.469del | dbSNP |
| 12 | g.21176819T>A | CA384104831 | SLCO1B1 | c.403T>A (p.Ser135Thr) c.469T>A | |
| 12 | g.21176819T>C | CA384104832 | SLCO1B1 | c.403T>C (p.Ser135Pro) c.469T>C | |
| 12 | g.21176819T>G | CA384104833 | SLCO1B1 | c.403T>G (p.Ser135Ala) c.469T>G | |
| 12 | g.21176820C>A | CA384104834 | SLCO1B1 | c.404C>A (p.Ser135Ter) c.470C>A | gnomAD v4 |
| 12 | g.21176820C= | CA2020990602 | SLCO1B1 | c.404C= (p.Ser135=) c.470C= | |
| 12 | g.21176820C>G | CA384104835 | SLCO1B1 | c.404C>G (p.Ser135Ter) c.470C>G | |
| 12 | g.21176820C>T | CA384104836 | SLCO1B1 | c.404C>T (p.Ser135Leu) c.470C>T | dbSNP gnomAD v4 |
| 12 | g.21176821A>C | CA478866787 | SLCO1B1 | c.405A>C (p.Ser135=) c.471A>C | |
| 12 | g.21176821A>G | CA478866785 | SLCO1B1 | c.405A>G (p.Ser135=) c.471A>G | |
| 12 | g.21176821A>T | CA478866786 | SLCO1B1 | c.405A>T (p.Ser135=) c.471A>T | |
| 12 | g.21176822A= | CA2020990603 | SLCO1B1 | c.406A= (p.Thr136=) c.472A= | |
| 12 | g.21176822A>C | CA384104837 | SLCO1B1 | c.406A>C (p.Thr136Pro) c.472A>C | |
| 12 | g.21176822A>G | CA384104838 | SLCO1B1 | c.406A>G (p.Thr136Ala) c.472A>G | dbSNP gnomAD v4 |
| 12 | g.21176822A>T | CA384104839 | SLCO1B1 | c.406A>T (p.Thr136Ser) c.472A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176823C>A | CA384104840 | SLCO1B1 | c.407C>A (p.Thr136Lys) c.473C>A | |
| 12 | g.21176823C>G | CA384104841 | SLCO1B1 | c.407C>G (p.Thr136Arg) c.473C>G | |
| 12 | g.21176823C>T | CA384104842 | SLCO1B1 | c.407C>T (p.Thr136Ile) c.473C>T | |
| 12 | g.21176824A= | CA2020990604 | SLCO1B1 | c.408A= (p.Thr136=) c.474A= | |
| 12 | g.21176824A>C | CA478866791 | SLCO1B1 | c.408A>C (p.Thr136=) c.474A>C | |
| 12 | g.21176824A>G | CA6476678 | SLCO1B1 | c.408A>G (p.Thr136=) c.474A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176824A>T | CA478866792 | SLCO1B1 | c.408A>T (p.Thr136=) c.474A>T | |
| 12 | g.21176825T>A | CA384104844 | SLCO1B1 | c.409T>A (p.Ser137Thr) c.475T>A | gnomAD v4 |
| 12 | g.21176825T>C | CA384104843 | SLCO1B1 | c.409T>C (p.Ser137Pro) c.475T>C | dbSNP |
| 12 | g.21176825T>G | CA384104845 | SLCO1B1 | c.409T>G (p.Ser137Ala) c.475T>G | |
| 12 | g.21176825T= | CA2020990605 | SLCO1B1 | c.409T= (p.Ser137=) c.475T= | |
| 12 | g.21176826C>A | CA384104846 | SLCO1B1 | c.410C>A (p.Ser137Ter) c.476C>A | gnomAD v4 |
| 12 | g.21176826C= | CA2020990606 | SLCO1B1 | c.410C= (p.Ser137=) c.476C= | |
| 12 | g.21176826C>G | CA384104847 | SLCO1B1 | c.410C>G (p.Ser137Trp) c.476C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176826C>T | CA6476679 | SLCO1B1 | c.410C>T (p.Ser137Leu) c.476C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21176827G>A | CA6476680 | SLCO1B1 | c.411G>A (p.Ser137=) c.477G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176827G>C | CA478866805 | SLCO1B1 | c.411G>C (p.Ser137=) c.477G>C | |
| 12 | g.21176827G= | CA2020990607 | SLCO1B1 | c.411G= (p.Ser137=) c.477G= | |
| 12 | g.21176827G>T | CA478866807 | SLCO1B1 | c.411G>T (p.Ser137=) c.477G>T | gnomAD v4 |
| 12 | g.21176828A>C | CA384104848 | SLCO1B1 | c.412A>C (p.Thr138Pro) c.478A>C | |
| 12 | g.21176828A>G | CA384104849 | SLCO1B1 | c.412A>G (p.Thr138Ala) c.478A>G | gnomAD v4 |
| 12 | g.21176828A>T | CA384104850 | SLCO1B1 | c.412A>T (p.Thr138Ser) c.478A>T | |
| 12 | g.21176829C>A | CA384104851 | SLCO1B1 | c.413C>A (p.Thr138Asn) c.479C>A | |
| 12 | g.21176829C>G | CA384104852 | SLCO1B1 | c.413C>G (p.Thr138Ser) c.479C>G | |
| 12 | g.21176829C>T | CA384104853 | SLCO1B1 | c.413C>T (p.Thr138Ile) c.479C>T | |
| 12 | g.21176830C>A | CA478866810 | SLCO1B1 | c.414C>A (p.Thr138=) c.480C>A | gnomAD v4 |
| 12 | g.21176830C= | CA2020990608 | SLCO1B1 | c.414C= (p.Thr138=) c.480C= | |
| 12 | g.21176830C>G | CA478866811 | SLCO1B1 | c.414C>G (p.Thr138=) c.480C>G | |
| 12 | g.21176830C>T | CA233560969 | SLCO1B1 | c.414C>T (p.Thr138=) c.480C>T | dbSNP |
| 12 | g.21176831T>A | CA384104854 | SLCO1B1 | c.415T>A (p.Leu139Ile) c.481T>A | |
| 12 | g.21176831T>C | CA478866816 | SLCO1B1 | c.415T>C (p.Leu139=) c.481T>C | |
| 12 | g.21176831T>G | CA384104855 | SLCO1B1 | c.415T>G (p.Leu139Val) c.481T>G | |
| 12 | g.21176832del | CA2617896170 | SLCO1B1 | c.416del (p.Leu139TyrfsTer5) c.482del | gnomAD v4 |
| 12 | g.21176832T>A | CA384104858 | SLCO1B1 | c.416T>A (p.Leu139Ter) c.482T>A | |
| 12 | g.21176832T>C | CA384104856 | SLCO1B1 | c.416T>C (p.Leu139Ser) c.482T>C | gnomAD v4 |
| 12 | g.21176832T>G | CA384104857 | SLCO1B1 | c.416T>G (p.Leu139Ter) c.482T>G | |
| 12 | g.21176833A>C | CA384104859 | SLCO1B1 | c.417A>C (p.Leu139Phe) c.483A>C | |
| 12 | g.21176833A>G | CA478866817 | SLCO1B1 | c.417A>G (p.Leu139=) c.483A>G | |
| 12 | g.21176833A>T | CA384104860 | SLCO1B1 | c.417A>T (p.Leu139Phe) c.483A>T | |
| 12 | g.21176834T>A | CA384104861 | SLCO1B1 | c.418T>A (p.Ser140Thr) c.484T>A | |
| 12 | g.21176834T>C | CA384104862 | SLCO1B1 | c.418T>C (p.Ser140Pro) c.484T>C | |
| 12 | g.21176834T>G | CA384104863 | SLCO1B1 | c.418T>G (p.Ser140Ala) c.484T>G | |
| 12 | g.21176835C>A | CA384104864 | SLCO1B1 | c.419C>A (p.Ser140Tyr) c.485C>A | gnomAD v4 |
| 12 | g.21176835C= | CA2020990609 | SLCO1B1 | c.419C= (p.Ser140=) c.485C= | |
| 12 | g.21176835C>G | CA384104865 | SLCO1B1 | c.419C>G (p.Ser140Cys) c.485C>G | |
| 12 | g.21176835C>T | CA233560975 | SLCO1B1 | c.419C>T (p.Ser140Phe) c.485C>T | dbSNP gnomAD v4 COSMIC |
| 12 | g.21176836C>A | CA478866821 | SLCO1B1 | c.420C>A (p.Ser140=) c.486C>A | gnomAD v4 |
| 12 | g.21176836C= | CA2020990610 | SLCO1B1 | c.420C= (p.Ser140=) c.486C= | |
| 12 | g.21176836C>G | CA478866822 | SLCO1B1 | c.420C>G (p.Ser140=) c.486C>G | |
| 12 | g.21176836C>T | CA478866823 | SLCO1B1 | c.420C>T (p.Ser140=) c.486C>T | dbSNP gnomAD v4 COSMIC |
| 12 | g.21176837A= | CA2020990611 | SLCO1B1 | c.421A= (p.Thr141=) c.487A= | |
| 12 | g.21176837A>C | CA384104866 | SLCO1B1 | c.421A>C (p.Thr141Pro) c.487A>C | dbSNP |
| 12 | g.21176837A>G | CA384104867 | SLCO1B1 | c.421A>G (p.Thr141Ala) c.487A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176837A>T | CA384104868 | SLCO1B1 | c.421A>T (p.Thr141Ser) c.487A>T | |
| 12 | g.21176838C>A | CA384104870 | SLCO1B1 | c.422C>A (p.Thr141Asn) c.488C>A | gnomAD v4 |
| 12 | g.21176838C>G | CA384104871 | SLCO1B1 | c.422C>G (p.Thr141Ser) c.488C>G | |
| 12 | g.21176838C>T | CA384104869 | SLCO1B1 | c.422C>T (p.Thr141Ile) c.488C>T | |
| 12 | g.21176839T>A | CA478866829 | SLCO1B1 | c.423T>A (p.Thr141=) c.489T>A | |
| 12 | g.21176839T>C | CA6476681 | SLCO1B1 | c.423T>C (p.Thr141=) c.489T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21176839T>G | CA478866830 | SLCO1B1 | c.423T>G (p.Thr141=) c.489T>G | |
| 12 | g.21176839T= | CA2020990612 | SLCO1B1 | c.423T= (p.Thr141=) c.489T= | |
| 12 | g.21176840T>A | CA384104872 | SLCO1B1 | c.424T>A (p.Cys142Ser) c.490T>A | |
| 12 | g.21176840T>C | CA384104873 | SLCO1B1 | c.424T>C (p.Cys142Arg) c.490T>C | |
| 12 | g.21176840T>G | CA384104874 | SLCO1B1 | c.424T>G (p.Cys142Gly) c.490T>G | gnomAD v4 |
| 12 | g.21176841G>A | CA384104875 | SLCO1B1 | c.425G>A (p.Cys142Tyr) c.491G>A | |
| 12 | g.21176841G>C | CA384104876 | SLCO1B1 | c.425G>C (p.Cys142Ser) c.491G>C | |
| 12 | g.21176841G>T | CA384104877 | SLCO1B1 | c.425G>T (p.Cys142Phe) c.491G>T | |
| 12 | g.21176842T>A | CA384104878 | SLCO1B1 | c.426T>A (p.Cys142Ter) c.492T>A | |
| 12 | g.21176842T>C | CA233560982 | SLCO1B1 | c.426T>C (p.Cys142=) c.492T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21176842T>G | CA384104879 | SLCO1B1 | c.426T>G (p.Cys142Trp) c.492T>G | |
| 12 | g.21176842T= | CA2020990613 | SLCO1B1 | c.426T= (p.Cys142=) c.492T= | |
| 12 | g.21176842_21176846delinsTTTAA | CA2020990614 | SLCO1B1 | c.426_430delinsTTTAA (p.Cys142=) c.492_496delinsTTTAA | |
| 12 | g.21176843T>A | CA384104880 | SLCO1B1 | c.427T>A (p.Leu143Ile) c.493T>A | |
| 12 | g.21176843T>C | CA478866835 | SLCO1B1 | c.427T>C (p.Leu143=) c.493T>C | gnomAD v4 |
| 12 | g.21176843T>G | CA384104881 | SLCO1B1 | c.427T>G (p.Leu143Val) c.493T>G | |
| 12 | g.21176848_21176851del | CA945497091 | SLCO1B1 | c.432_435del (p.Asn145LysfsTer12) c.498_501del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21176844T>A | CA384104882 | SLCO1B1 | c.428T>A (p.Leu143Ter) c.494T>A | |
| 12 | g.21176844T>C | CA384104883 | SLCO1B1 | c.428T>C (p.Leu143Ser) c.494T>C | |
| 12 | g.21176844T>G | CA384104884 | SLCO1B1 | c.428T>G (p.Leu143Ter) c.494T>G | |
| 12 | g.21176845A>C | CA384104885 | SLCO1B1 | c.429A>C (p.Leu143Phe) c.495A>C | |
| 12 | g.21176845A>G | CA478866837 | SLCO1B1 | c.429A>G (p.Leu143=) c.495A>G | |
| 12 | g.21176845A>T | CA384104886 | SLCO1B1 | c.429A>T (p.Leu143Phe) c.495A>T | gnomAD v4 |
| 12 | g.21176846A>C | CA384104887 | SLCO1B1 | c.430A>C (p.Ile144Leu) c.496A>C | |
| 12 | g.21176846A>G | CA384104888 | SLCO1B1 | c.430A>G (p.Ile144Val) c.496A>G | gnomAD v4 |
| 12 | g.21176846A>T | CA384104889 | SLCO1B1 | c.430A>T (p.Ile144Phe) c.496A>T | |
| 12 | g.21176847T>A | CA384104890 | SLCO1B1 | c.431T>A (p.Ile144Asn) c.497T>A | |
| 12 | g.21176847T>C | CA384104891 | SLCO1B1 | c.431T>C (p.Ile144Thr) c.497T>C | COSMIC |
| 12 | g.21176847T>G | CA6476682 | SLCO1B1 | c.431T>G (p.Ile144Ser) c.497T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176847T= | CA2020990615 | SLCO1B1 | c.431T= (p.Ile144=) c.497T= | |
| 12 | g.21176848T>A | CA478866844 | SLCO1B1 | c.432T>A (p.Ile144=) c.498T>A | |
| 12 | g.21176848T>C | CA478866846 | SLCO1B1 | c.432T>C (p.Ile144=) c.498T>C | |
| 12 | g.21176848T>G | CA384104892 | SLCO1B1 | c.432T>G (p.Ile144Met) c.498T>G | dbSNP gnomAD v4 |
| 12 | g.21176848T= | CA2020990616 | SLCO1B1 | c.432T= (p.Ile144=) c.498T= | |
| 12 | g.21176849A>C | CA384104893 | SLCO1B1 | c.433A>C (p.Asn145His) c.499A>C | gnomAD v4 |
| 12 | g.21176849A>G | CA384104894 | SLCO1B1 | c.433A>G (p.Asn145Asp) c.499A>G | gnomAD v4 |
| 12 | g.21176849A>T | CA384104895 | SLCO1B1 | c.433A>T (p.Asn145Tyr) c.499A>T | gnomAD v4 |
| 12 | g.21176850dup | CA919039393 | SLCO1B1 | c.434dup (p.Asn145LysfsTer8) c.500dup | dbSNP |
| 12 | g.21176850A>C | CA384104896 | SLCO1B1 | c.434A>C (p.Asn145Thr) c.500A>C | |
| 12 | g.21176850A>G | CA384104897 | SLCO1B1 | c.434A>G (p.Asn145Ser) c.500A>G | |
| 12 | g.21176850A>T | CA384104898 | SLCO1B1 | c.434A>T (p.Asn145Ile) c.500A>T | |
| 12 | g.21176851T>A | CA384104899 | SLCO1B1 | c.435T>A (p.Asn145Lys) c.501T>A | dbSNP |
| 12 | g.21176851T>C | CA478866851 | SLCO1B1 | c.435T>C (p.Asn145=) c.501T>C | gnomAD v4 |
| 12 | g.21176851T>G | CA384104900 | SLCO1B1 | c.435T>G (p.Asn145Lys) c.501T>G | |
| 12 | g.21176852C>A | CA384104901 | SLCO1B1 | c.436C>A (p.Gln146Lys) c.502C>A | gnomAD v4 COSMIC |
| 12 | g.21176852C>G | CA384104903 | SLCO1B1 | c.436C>G (p.Gln146Glu) c.502C>G | |
| 12 | g.21176852C>T | CA384104902 | SLCO1B1 | c.436C>T (p.Gln146Ter) c.502C>T | COSMIC |
| 12 | g.21176853A>C | CA384104904 | SLCO1B1 | c.437A>C (p.Gln146Pro) c.503A>C | |
| 12 | g.21176853A>G | CA384104905 | SLCO1B1 | c.437A>G (p.Gln146Arg) c.503A>G | |
| 12 | g.21176853A>T | CA384104906 | SLCO1B1 | c.437A>T (p.Gln146Leu) c.503A>T | |
| 12 | g.21176854A= | CA2020990617 | SLCO1B1 | c.438A= (p.Gln146=) c.504A= | |
| 12 | g.21176854A>C | CA384104907 | SLCO1B1 | c.438A>C (p.Gln146His) c.504A>C | |
| 12 | g.21176854A>G | CA478866858 | SLCO1B1 | c.438A>G (p.Gln146=) c.504A>G | dbSNP gnomAD v4 |
| 12 | g.21176854A>T | CA384104908 | SLCO1B1 | c.438A>T (p.Gln146His) c.504A>T | |
| 12 | g.21176855A= | CA2020990618 | SLCO1B1 | c.439A= (p.Ile147=) c.505A= | |
| 12 | g.21176855A>C | CA384104909 | SLCO1B1 | c.439A>C (p.Ile147Leu) c.505A>C | gnomAD v4 |
| 12 | g.21176855A>G | CA384104910 | SLCO1B1 | c.439A>G (p.Ile147Val) c.505A>G | dbSNP COSMIC |
| 12 | g.21176855A>T | CA384104911 | SLCO1B1 | c.439A>T (p.Ile147Phe) c.505A>T | |
| 12 | g.21176856T>A | CA384104912 | SLCO1B1 | c.440T>A (p.Ile147Asn) c.506T>A | |
| 12 | g.21176856T>C | CA6476683 | SLCO1B1 | c.440T>C (p.Ile147Thr) c.506T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176856T>G | CA384104913 | SLCO1B1 | c.440T>G (p.Ile147Ser) c.506T>G | |
| 12 | g.21176856T= | CA2020990619 | SLCO1B1 | c.440T= (p.Ile147=) c.506T= | |
| 12 | g.21176857T>A | CA478866860 | SLCO1B1 | c.441T>A (p.Ile147=) c.507T>A | |
| 12 | g.21176857T>C | CA478866862 | SLCO1B1 | c.441T>C (p.Ile147=) c.507T>C | |
| 12 | g.21176857T>G | CA384104914 | SLCO1B1 | c.441T>G (p.Ile147Met) c.507T>G | |
| 12 | g.21176858T>A | CA384104916 | SLCO1B1 | c.442T>A (p.Leu148Ile) c.508T>A | |
| 12 | g.21176858T>C | CA478866864 | SLCO1B1 | c.442T>C (p.Leu148=) c.508T>C | |
| 12 | g.21176858T>G | CA384104915 | SLCO1B1 | c.442T>G (p.Leu148Val) c.508T>G | |
| 12 | g.21176859T>A | CA384104917 | SLCO1B1 | c.443T>A (p.Leu148Ter) c.509T>A | |
| 12 | g.21176859T>C | CA384104918 | SLCO1B1 | c.443T>C (p.Leu148Ser) c.509T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21176859T>G | CA6476684 | SLCO1B1 | c.443T>G (p.Leu148Ter) c.509T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176859T= | CA2020990620 | SLCO1B1 | c.443T= (p.Leu148=) c.509T= | |
| 12 | g.21176860del | CA2617896183 | SLCO1B1 | c.444del (p.Leu148PhefsTer10) c.510del | gnomAD v4 |
| 12 | g.21176860A= | CA2020990621 | SLCO1B1 | c.444A= (p.Leu148=) c.510A= | |
| 12 | g.21176860A>C | CA384104919 | SLCO1B1 | c.444A>C (p.Leu148Phe) c.510A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176860A>G | CA478866867 | SLCO1B1 | c.444A>G (p.Leu148=) c.510A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21176860A>T | CA384104920 | SLCO1B1 | c.444A>T (p.Leu148Phe) c.510A>T | |
| 12 | g.21176861T>A | CA384104923 | SLCO1B1 | c.445T>A (p.Ser149Thr) c.511T>A | |
| 12 | g.21176861T>C | CA384104922 | SLCO1B1 | c.445T>C (p.Ser149Pro) c.511T>C | |
| 12 | g.21176861T>G | CA384104921 | SLCO1B1 | c.445T>G (p.Ser149Ala) c.511T>G | |
| 12 | g.21176862C>A | CA384104924 | SLCO1B1 | c.446C>A (p.Ser149Ter) c.512C>A | gnomAD v4 |
| 12 | g.21176862C>G | CA384104925 | SLCO1B1 | c.446C>G (p.Ser149Ter) c.512C>G | |
| 12 | g.21176862C>T | CA384104926 | SLCO1B1 | c.446C>T (p.Ser149Leu) c.512C>T | |
| 12 | g.21176863A>C | CA478866875 | SLCO1B1 | c.447A>C (p.Ser149=) c.513A>C | |
| 12 | g.21176863A>G | CA478866874 | SLCO1B1 | c.447A>G (p.Ser149=) c.513A>G | gnomAD v4 |
| 12 | g.21176863A>T | CA478866872 | SLCO1B1 | c.447A>T (p.Ser149=) c.513A>T | |
| 12 | g.21176864C>A | CA384104927 | SLCO1B1 | c.448C>A (p.Leu150Ile) c.514C>A | gnomAD v4 |
| 12 | g.21176864C>G | CA384104928 | SLCO1B1 | c.448C>G (p.Leu150Val) c.514C>G | |
| 12 | g.21176864C>T | CA384104929 | SLCO1B1 | c.448C>T (p.Leu150Phe) c.514C>T | |
| 12 | g.21176865T>A | CA384104930 | SLCO1B1 | c.449T>A (p.Leu150His) c.515T>A | |
| 12 | g.21176865T>C | CA233560995 | SLCO1B1 | c.449T>C (p.Leu150Pro) c.515T>C | dbSNP |
| 12 | g.21176865T>G | CA384104931 | SLCO1B1 | c.449T>G (p.Leu150Arg) c.515T>G | |
| 12 | g.21176865T= | CA2020990622 | SLCO1B1 | c.449T= (p.Leu150=) c.515T= | |
| 12 | g.21176866C>A | CA478866880 | SLCO1B1 | c.450C>A (p.Leu150=) c.516C>A | gnomAD v4 |
| 12 | g.21176866C>G | CA478866881 | SLCO1B1 | c.450C>G (p.Leu150=) c.516C>G | |
| 12 | g.21176866C>T | CA478866884 | SLCO1B1 | c.450C>T (p.Leu150=) c.516C>T | gnomAD v4 COSMIC |
| 12 | g.21176867A>C | CA384104932 | SLCO1B1 | c.451A>C (p.Asn151His) c.517A>C | |
| 12 | g.21176867A>G | CA384104933 | SLCO1B1 | c.451A>G (p.Asn151Asp) c.517A>G | |
| 12 | g.21176867A>T | CA384104934 | SLCO1B1 | c.451A>T (p.Asn151Tyr) c.517A>T | |
| 12 | g.21176868del | CA2617896185 | SLCO1B1 | c.452del (p.Asn151IlefsTer7) c.518del | gnomAD v4 |
| 12 | g.21176868A= | CA2020990623 | SLCO1B1 | c.452A= (p.Asn151=) c.518A= | |
| 12 | g.21176868A>C | CA384104935 | SLCO1B1 | c.452A>C (p.Asn151Thr) c.518A>C | |
| 12 | g.21176868A>G | CA6476685 | SLCO1B1 | c.452A>G (p.Asn151Ser) c.518A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176868A>T | CA384104936 | SLCO1B1 | c.452A>T (p.Asn151Ile) c.518A>T | |
| 12 | g.21176869T>A | CA6476686 | SLCO1B1 | c.453T>A (p.Asn151Lys) c.519T>A | dbSNP ExAC gnomAD v2 |
| 12 | g.21176869T>C | CA478866893 | SLCO1B1 | c.453T>C (p.Asn151=) c.519T>C | gnomAD v4 |
| 12 | g.21176869T>G | CA384104937 | SLCO1B1 | c.453T>G (p.Asn151Lys) c.519T>G | |
| 12 | g.21176869T= | CA2020990624 | SLCO1B1 | c.453T= (p.Asn151=) c.519T= | |
| 12 | g.21176870A>C | CA478866896 | SLCO1B1 | c.454A>C (p.Arg152=) c.520A>C | |
| 12 | g.21176870A>G | CA384104938 | SLCO1B1 | c.454A>G (p.Arg152Gly) c.520A>G | |
| 12 | g.21176870A>T | CA384104939 | SLCO1B1 | c.454A>T (p.Arg152Ter) c.520A>T | |
| 12 | g.21176871G>A | CA384104940 | SLCO1B1 | c.455G>A (p.Arg152Lys) c.521G>A | |
| 12 | g.21176871G>C | CA6476687 | SLCO1B1 | c.455G>C (p.Arg152Thr) c.521G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176871G= | CA2020990625 | SLCO1B1 | c.455G= (p.Arg152=) c.521G= | |
| 12 | g.21176871G>T | CA384104941 | SLCO1B1 | c.455G>T (p.Arg152Ile) c.521G>T | |
| 12 | g.21176872A= | CA2020990626 | SLCO1B1 | c.456A= (p.Arg152=) c.522A= | |
| 12 | g.21176872A>C | CA384104943 | SLCO1B1 | c.456A>C (p.Arg152Ser) c.522A>C | gnomAD v4 |
| 12 | g.21176872A>G | CA6476688 | SLCO1B1 | c.456A>G (p.Arg152=) c.522A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21176872A>T | CA384104942 | SLCO1B1 | c.456A>T (p.Arg152Ser) c.522A>T | gnomAD v4 |
| 12 | g.21176873G>A | CA384104944 | SLCO1B1 | c.457G>A (p.Ala153Thr) c.523G>A | dbSNP gnomAD v4 |
| 12 | g.21176873G>C | CA384104945 | SLCO1B1 | c.457G>C (p.Ala153Pro) c.523G>C | COSMIC |
| 12 | g.21176873G>T | CA384104946 | SLCO1B1 | c.457G>T (p.Ala153Ser) c.523G>T | gnomAD v4 |
| 12 | g.21176874C>A | CA384104947 | SLCO1B1 | c.458C>A (p.Ala153Glu) c.524C>A | gnomAD v4 |
| 12 | g.21176874C>G | CA384104948 | SLCO1B1 | c.458C>G (p.Ala153Gly) c.524C>G | |
| 12 | g.21176874C>T | CA384104949 | SLCO1B1 | c.458C>T (p.Ala153Val) c.524C>T | gnomAD v4 |
| 12 | g.21176875A>C | CA478866906 | SLCO1B1 | c.459A>C (p.Ala153=) c.525A>C | |
| 12 | g.21176875A>G | CA478866907 | SLCO1B1 | c.459A>G (p.Ala153=) c.525A>G | |
| 12 | g.21176875A>T | CA478866908 | SLCO1B1 | c.459A>T (p.Ala153=) c.525A>T | |
| 12 | g.21176876T>A | CA384104950 | SLCO1B1 | c.460T>A (p.Ser154Thr) c.526T>A | |
| 12 | g.21176876T>C | CA384104951 | SLCO1B1 | c.460T>C (p.Ser154Pro) c.526T>C | gnomAD v4 |
| 12 | g.21176876T>G | CA384104952 | SLCO1B1 | c.460T>G (p.Ser154Ala) c.526T>G | |
| 12 | g.21176877C>A | CA384104953 | SLCO1B1 | c.461C>A (p.Ser154Ter) c.527C>A | gnomAD v4 |
| 12 | g.21176877C>G | CA384104954 | SLCO1B1 | c.461C>G (p.Ser154Ter) c.527C>G | |
| 12 | g.21176877C>T | CA384104955 | SLCO1B1 | c.461C>T (p.Ser154Leu) c.527C>T | |
| 12 | g.21176878A>C | CA478866913 | SLCO1B1 | c.462A>C (p.Ser154=) c.528A>C | |
| 12 | g.21176878A>G | CA478866915 | SLCO1B1 | c.462A>G (p.Ser154=) c.528A>G | |
| 12 | g.21176878A>T | CA478866916 | SLCO1B1 | c.462A>T (p.Ser154=) c.528A>T | |
| 12 | g.21176879C>A | CA6476689 | SLCO1B1 | c.463C>A (p.Pro155Thr) c.529C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176879C= | CA2020990627 | SLCO1B1 | c.463C= (p.Pro155=) c.529C= | |
| 12 | g.21176879C>G | CA384104957 | SLCO1B1 | c.463C>G (p.Pro155Ala) c.529C>G | gnomAD v4 |
| 12 | g.21176879C>T | CA384104956 | SLCO1B1 | c.463C>T (p.Pro155Ser) c.529C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176880C>A | CA384104958 | SLCO1B1 | c.464C>A (p.Pro155His) c.530C>A | gnomAD v4 |
| 12 | g.21176880C= | CA2020990628 | SLCO1B1 | c.464C= (p.Pro155=) c.530C= | |
| 12 | g.21176880C>G | CA384104960 | SLCO1B1 | c.464C>G (p.Pro155Arg) c.530C>G | |
| 12 | g.21176880C>T | CA384104959 | SLCO1B1 | c.464C>T (p.Pro155Leu) c.530C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21176881T>A | CA478866926 | SLCO1B1 | c.465T>A (p.Pro155=) c.531T>A | |
| 12 | g.21176881T>C | CA478866927 | SLCO1B1 | c.465T>C (p.Pro155=) c.531T>C | gnomAD v4 |
| 12 | g.21176881T>G | CA478866929 | SLCO1B1 | c.465T>G (p.Pro155=) c.531T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21176881T= | CA2020990629 | SLCO1B1 | c.465T= (p.Pro155=) c.531T= | |
| 12 | g.21176882G>A | CA384104961 | SLCO1B1 | c.466G>A (p.Glu156Lys) c.532G>A | |
| 12 | g.21176882G>C | CA384104962 | SLCO1B1 | c.466G>C (p.Glu156Gln) c.532G>C | |
| 12 | g.21176882G>T | CA384104963 | SLCO1B1 | c.466G>T (p.Glu156Ter) c.532G>T | |
| 12 | g.21176883A= | CA2020990630 | SLCO1B1 | c.467A= (p.Glu156=) c.533A= | |
| 12 | g.21176883A>C | CA384104964 | SLCO1B1 | c.467A>C (p.Glu156Ala) c.533A>C | gnomAD v4 |
| 12 | g.21176883A>G | CA233561022 | SLCO1B1 | c.467A>G (p.Glu156Gly) c.533A>G | dbSNP gnomAD v4 |
| 12 | g.21176883A>T | CA384104965 | SLCO1B1 | c.467A>T (p.Glu156Val) c.533A>T | COSMIC |
| 12 | g.21176884G>A | CA478866933 | SLCO1B1 | c.468G>A (p.Glu156=) c.534G>A | |
| 12 | g.21176884G>C | CA384104966 | SLCO1B1 | c.468G>C (p.Glu156Asp) c.534G>C | |
| 12 | g.21176884G= | CA2020990631 | SLCO1B1 | c.468G= (p.Glu156=) c.534G= | |
| 12 | g.21176884G>T | CA6476690 | SLCO1B1 | c.468G>T (p.Glu156Asp) c.534G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21176885A>C | CA384104967 | SLCO1B1 | c.469A>C (p.Ile157Leu) c.535A>C | |
| 12 | g.21176885A>G | CA384104968 | SLCO1B1 | c.469A>G (p.Ile157Val) c.535A>G | |
| 12 | g.21176885A>T | CA384104969 | SLCO1B1 | c.469A>T (p.Ile157Leu) c.535A>T | |
| 12 | g.21176886T>A | CA384104971 | SLCO1B1 | c.470T>A (p.Ile157Lys) c.536T>A | |
| 12 | g.21176886T>C | CA384104970 | SLCO1B1 | c.470T>C (p.Ile157Thr) c.536T>C | gnomAD v4 |
| 12 | g.21176886T>G | CA6476691 | SLCO1B1 | c.470T>G (p.Ile157Arg) c.536T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21176886T= | CA2020990632 | SLCO1B1 | c.470T= (p.Ile157=) c.536T= | |
| 12 | g.21176887A>C | CA478866939 | SLCO1B1 | c.471A>C (p.Ile157=) c.537A>C | |
| 12 | g.21176887A>G | CA384104972 | SLCO1B1 | c.471A>G (p.Ile157Met) c.537A>G | |
| 12 | g.21176887A>T | CA478866940 | SLCO1B1 | c.471A>T (p.Ile157=) c.537A>T | |
| 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 |
| 12 | g.21176905T>C | CA2617896204 | SLCO1B1 | c.481+8T>C (n.481+8T>C) | gnomAD v4 |
| 12 | g.21176906T>A | CA2617896206 | SLCO1B1 | c.481+9T>A (n.481+9T>A) | gnomAD v4 |
| 12 | g.21176906T>C | CA2617896205 | SLCO1B1 | c.481+9T>C (n.481+9T>C) | gnomAD v4 |
| 12 | g.21176907A>G | CA2617896207 | SLCO1B1 | c.481+10A>G (n.481+10A>G) | gnomAD v4 |
| 12 | g.21176907A>T | CA2617896208 | SLCO1B1 | c.481+10A>T (n.481+10A>T) | gnomAD v4 |
| 12 | g.21176908A>G | CA2617896209 | SLCO1B1 | c.481+11A>G (n.481+11A>G) | gnomAD v4 |