Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21176678A>T | CA2617895837 | SLCO1B1 | c.360-98A>T (n.360-98A>T) c.426-98A>T | gnomAD v4 |
12 | g.21176679A= | CA2020990562 | SLCO1B1 | c.360-97A= (n.360-97A=) c.426-97A= | |
12 | g.21176679A>G | CA686354209 | SLCO1B1 | c.360-97A>G (n.360-97A>G) c.426-97A>G | dbSNP gnomAD v4 |
12 | g.21176680T>C | CA2020990564 | SLCO1B1 | c.360-96T>C (n.360-96T>C) c.426-96T>C | dbSNP gnomAD v4 |
12 | g.21176680T= | CA2020990563 | SLCO1B1 | c.360-96T= (n.360-96T=) c.426-96T= | |
12 | g.21176680dup | CA945496999 | SLCO1B1 | c.360-96dup (n.360-96dup) c.426-96dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176682del | CA2575096351 | SLCO1B1 | c.360-94del (n.360-94del) c.426-94del | |
12 | g.21176682G= | CA2020990565 | SLCO1B1 | c.360-94G= (n.360-94G=) c.426-94G= | |
12 | g.21176682G>T | CA603657673 | SLCO1B1 | c.360-94G>T (n.360-94G>T) c.426-94G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176682_21176688delinsGTGCAAA | CA2020990566 | SLCO1B1 | c.360-94_360-88delinsGTGCAAA (n.360-94_360-88delinsGTGCAAA) c.426-94_426-88delinsGTGCAAA | |
12 | g.21176684_21176689del | CA2020990567 | SLCO1B1 | c.360-92_360-87del (n.360-92_360-87del) c.426-92_426-87del | dbSNP |
12 | g.21176684G>A | CA686354221 | SLCO1B1 | c.360-92G>A (n.360-92G>A) c.426-92G>A | dbSNP gnomAD v4 |
12 | g.21176684G= | CA2020990568 | SLCO1B1 | c.360-92G= (n.360-92G=) c.426-92G= | |
12 | g.21176684G>T | CA2794800730 | SLCO1B1 | c.360-92G>T (n.360-92G>T) c.426-92G>T | |
12 | g.21176685C>A | CA2575096352 | SLCO1B1 | c.360-91C>A (n.360-91C>A) c.426-91C>A | gnomAD v4 |
12 | g.21176686A>G | CA2617895851 | SLCO1B1 | c.360-90A>G (n.360-90A>G) c.426-90A>G | gnomAD v4 |
12 | g.21176688A>G | CA2617895853 | SLCO1B1 | c.360-88A>G (n.360-88A>G) c.426-88A>G | gnomAD v4 |
12 | g.21176691A= | CA2020990569 | SLCO1B1 | c.360-85A= (n.360-85A=) c.426-85A= | |
12 | g.21176691A>C | CA686354222 | SLCO1B1 | c.360-85A>C (n.360-85A>C) c.426-85A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176692A>G | CA2617895857 | SLCO1B1 | c.360-84A>G (n.360-84A>G) c.426-84A>G | gnomAD v4 |
12 | g.21176692A>T | CA2617895858 | SLCO1B1 | c.360-84A>T (n.360-84A>T) c.426-84A>T | gnomAD v4 |
12 | g.21176693G>T | CA2617895861 | SLCO1B1 | c.360-83G>T (n.360-83G>T) c.426-83G>T | gnomAD v4 |
12 | g.21176694G>T | CA2617895862 | SLCO1B1 | c.360-82G>T (n.360-82G>T) c.426-82G>T | gnomAD v4 |
12 | g.21176695G>A | CA233560870 | SLCO1B1 | c.360-81G>A (n.360-81G>A) c.426-81G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176695G>C | CA945497003 | SLCO1B1 | c.360-81G>C (n.360-81G>C) c.426-81G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176695G= | CA2020990570 | SLCO1B1 | c.360-81G= (n.360-81G=) c.426-81G= | |
12 | g.21176695G>T | CA2575096353 | SLCO1B1 | c.360-81G>T (n.360-81G>T) c.426-81G>T | |
12 | g.21176696G>A | CA2617895865 | SLCO1B1 | c.360-80G>A (n.360-80G>A) c.426-80G>A | gnomAD v4 |
12 | g.21176696G>T | CA2617895878 | SLCO1B1 | c.360-80G>T (n.360-80G>T) c.426-80G>T | gnomAD v4 |
12 | g.21176697A= | CA2020990571 | SLCO1B1 | c.360-79A= (n.360-79A=) c.426-79A= | |
12 | g.21176697A>G | CA2617895884 | SLCO1B1 | c.360-79A>G (n.360-79A>G) c.426-79A>G | gnomAD v4 |
12 | g.21176697A>T | CA233560877 | SLCO1B1 | c.360-79A>T (n.360-79A>T) c.426-79A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176698A>C | CA2617895885 | SLCO1B1 | c.360-78A>C (n.360-78A>C) c.426-78A>C | gnomAD v4 |
12 | g.21176700A>G | CA2617895886 | SLCO1B1 | c.360-76A>G (n.360-76A>G) c.426-76A>G | gnomAD v4 |
12 | g.21176703T>A | CA2617895888 | SLCO1B1 | c.360-73T>A (n.360-73T>A) c.426-73T>A | gnomAD v4 |
12 | g.21176704C>A | CA2617895889 | SLCO1B1 | c.360-72C>A (n.360-72C>A) c.426-72C>A | gnomAD v4 |
12 | g.21176704C>T | CA2617895891 | SLCO1B1 | c.360-72C>T (n.360-72C>T) c.426-72C>T | gnomAD v4 |
12 | g.21176705T>C | CA2617895893 | SLCO1B1 | c.360-71T>C (n.360-71T>C) c.426-71T>C | gnomAD v4 |
12 | g.21176706C>A | CA2617895896 | SLCO1B1 | c.360-70C>A (n.360-70C>A) c.426-70C>A | gnomAD v4 |
12 | g.21176708_21176709del | CA2617895897 | SLCO1B1 | c.360-68_360-67del (n.360-68_360-67del) c.426-68_426-67del | gnomAD v4 |
12 | g.21176708G>A | CA945497033 | SLCO1B1 | c.360-68G>A (n.360-68G>A) c.426-68G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176708G= | CA2020990572 | SLCO1B1 | c.360-68G= (n.360-68G=) c.426-68G= | |
12 | g.21176709T>C | CA233560881 | SLCO1B1 | c.360-67T>C (n.360-67T>C) c.426-67T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176709T= | CA2020990573 | SLCO1B1 | c.360-67T= (n.360-67T=) c.426-67T= | |
12 | g.21176710A= | CA2020990574 | SLCO1B1 | c.360-66A= (n.360-66A=) c.426-66A= | |
12 | g.21176710A>G | CA233560884 | SLCO1B1 | c.360-66A>G (n.360-66A>G) c.426-66A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176710A>T | CA2617895901 | SLCO1B1 | c.360-66A>T (n.360-66A>T) c.426-66A>T | gnomAD v4 |
12 | g.21176714C>A | CA2617895902 | SLCO1B1 | c.360-62C>A (n.360-62C>A) c.426-62C>A | gnomAD v4 |
12 | g.21176714C>T | CA654272658 | SLCO1B1 | c.360-62C>T (n.360-62C>T) c.426-62C>T | COSMIC |
12 | g.21176715T>C | CA2570757773 | SLCO1B1 | c.360-61T>C (n.360-61T>C) c.426-61T>C | |
12 | g.21176716A>G | CA2617895904 | SLCO1B1 | c.360-60A>G (n.360-60A>G) c.426-60A>G | gnomAD v4 |
12 | g.21176717G>A | CA686354229 | SLCO1B1 | c.360-59G>A (n.360-59G>A) c.426-59G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176717G= | CA2020990575 | SLCO1B1 | c.360-59G= (n.360-59G=) c.426-59G= | |
12 | g.21176718G>A | CA2725798803 | SLCO1B1 | c.360-58G>A (n.360-58G>A) c.426-58G>A | dbSNP |
12 | g.21176718G= | CA2020990576 | SLCO1B1 | c.360-58G= (n.360-58G=) c.426-58G= | |
12 | g.21176719A>G | CA2617895908 | SLCO1B1 | c.360-57A>G (n.360-57A>G) c.426-57A>G | gnomAD v4 |
12 | g.21176719_21176729dup | CA945497039 | SLCO1B1 | c.360-57_360-47dup (n.360-57_360-47dup) c.426-57_426-47dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176720A>G | CA2617895909 | SLCO1B1 | c.360-56A>G (n.360-56A>G) c.426-56A>G | gnomAD v4 |
12 | g.21176722A>G | CA2617895910 | SLCO1B1 | c.360-54A>G (n.360-54A>G) c.426-54A>G | gnomAD v4 |
12 | g.21176725G>A | CA603657674 | SLCO1B1 | c.360-51G>A (n.360-51G>A) c.426-51G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176725G= | CA2020990577 | SLCO1B1 | c.360-51G= (n.360-51G=) c.426-51G= | |
12 | g.21176727A>G | CA2617895917 | SLCO1B1 | c.360-49A>G (n.360-49A>G) c.426-49A>G | gnomAD v4 |
12 | g.21176731A>G | CA2617895922 | SLCO1B1 | c.360-45A>G (n.360-45A>G) c.426-45A>G | gnomAD v4 |
12 | g.21176732_21176735del | CA2523812476 | SLCO1B1 | c.360-44_360-41del (n.360-44_360-41del) c.426-44_426-41del | |
12 | g.21176732T>C | CA603657675 | SLCO1B1 | c.360-44T>C (n.360-44T>C) c.426-44T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176732T= | CA2020990578 | SLCO1B1 | c.360-44T= (n.360-44T=) c.426-44T= | |
12 | g.21176733T>C | CA6476668 | SLCO1B1 | c.360-43T>C (n.360-43T>C) c.426-43T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176733T= | CA2020990579 | SLCO1B1 | c.360-43T= (n.360-43T=) c.426-43T= | |
12 | g.21176734C>A | CA2617895962 | SLCO1B1 | c.360-42C>A (n.360-42C>A) c.426-42C>A | gnomAD v4 |
12 | g.21176734C>T | CA2617895963 | SLCO1B1 | c.360-42C>T (n.360-42C>T) c.426-42C>T | gnomAD v4 |
12 | g.21176735A>G | CA2617895964 | SLCO1B1 | c.360-41A>G (n.360-41A>G) c.426-41A>G | gnomAD v4 |
12 | g.21176735A>T | CA2617895965 | SLCO1B1 | c.360-41A>T (n.360-41A>T) c.426-41A>T | gnomAD v4 |
12 | g.21176736G>A | CA2617895966 | SLCO1B1 | c.360-40G>A (n.360-40G>A) c.426-40G>A | dbSNP gnomAD v4 |
12 | g.21176737T>C | CA2617895967 | SLCO1B1 | c.360-39T>C (n.360-39T>C) c.426-39T>C | gnomAD v4 |
12 | g.21176738A>G | CA2617895968 | SLCO1B1 | c.360-38A>G (n.360-38A>G) c.426-38A>G | gnomAD v4 |
12 | g.21176740A= | CA2020990580 | SLCO1B1 | c.360-36A= (n.360-36A=) c.426-36A= | |
12 | g.21176740A>C | CA603657676 | SLCO1B1 | c.360-36A>C (n.360-36A>C) c.426-36A>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176740A>G | CA2617895969 | SLCO1B1 | c.360-36A>G (n.360-36A>G) c.426-36A>G | gnomAD v4 |
12 | g.21176741T>C | CA603657677 | SLCO1B1 | c.360-35T>C (n.360-35T>C) c.426-35T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176741T= | CA2020990581 | SLCO1B1 | c.360-35T= (n.360-35T=) c.426-35T= | |
12 | g.21176742A>G | CA2617895978 | SLCO1B1 | c.360-34A>G (n.360-34A>G) c.426-34A>G | gnomAD v4 |
12 | g.21176743del | CA2575096354 | SLCO1B1 | c.360-33del (n.360-33del) c.426-33del | |
12 | g.21176743A>G | CA2617895980 | SLCO1B1 | c.360-33A>G (n.360-33A>G) c.426-33A>G | gnomAD v4 |
12 | g.21176744G>A | CA2511637743 | SLCO1B1 | c.360-32G>A (n.360-32G>A) c.426-32G>A | gnomAD v4 |
12 | g.21176745C>A | CA2617895982 | SLCO1B1 | c.360-31C>A (n.360-31C>A) c.426-31C>A | gnomAD v4 |
12 | g.21176747A>G | CA2617895984 | SLCO1B1 | c.360-29A>G (n.360-29A>G) c.426-29A>G | gnomAD v4 |
12 | g.21176748A>G | CA2617895989 | SLCO1B1 | c.360-28A>G (n.360-28A>G) c.426-28A>G | gnomAD v4 |
12 | g.21176749A= | CA2020990582 | SLCO1B1 | c.360-27A= (n.360-27A=) c.426-27A= | |
12 | g.21176749A>G | CA945497051 | SLCO1B1 | c.360-27A>G (n.360-27A>G) c.426-27A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176750T>C | CA2794800733 | SLCO1B1 | c.360-26T>C (n.360-26T>C) c.426-26T>C | |
12 | g.21176751G>C | CA2617895991 | SLCO1B1 | c.360-25G>C (n.360-25G>C) c.426-25G>C | gnomAD v4 |
12 | g.21176751G>T | CA2529541449 | SLCO1B1 | c.360-25G>T (n.360-25G>T) c.426-25G>T | |
12 | g.21176753T>C | CA2617895992 | SLCO1B1 | c.360-23T>C (n.360-23T>C) c.426-23T>C | gnomAD v4 |
12 | g.21176755A>G | CA2617895995 | SLCO1B1 | c.360-21A>G (n.360-21A>G) c.426-21A>G | gnomAD v4 |
12 | g.21176756A>G | CA2617895996 | SLCO1B1 | c.360-20A>G (n.360-20A>G) c.426-20A>G | gnomAD v4 |
12 | g.21176757T>A | CA603657678 | SLCO1B1 | c.360-19T>A (n.360-19T>A) c.426-19T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21176757T= | CA2020990583 | SLCO1B1 | c.360-19T= (n.360-19T=) c.426-19T= | |
12 | g.21176758T>A | CA2531065951 | SLCO1B1 | c.360-18T>A (n.360-18T>A) c.426-18T>A | |
12 | g.21176759C>A | CA2617896001 | SLCO1B1 | c.360-17C>A (n.360-17C>A) c.426-17C>A | gnomAD v4 |
12 | g.21176759C>T | CA2538630688 | SLCO1B1 | c.360-17C>T (n.360-17C>T) c.426-17C>T | |
12 | g.21176760A>C | CA654272659 | SLCO1B1 | c.360-16A>C (n.360-16A>C) c.426-16A>C | COSMIC |
12 | g.21176760_21176761insATACACCCCAGGCTAAGTGG | CA2534721645 | SLCO1B1 | c.360-16_360-15insATACACCCCAGGCTAAGTGG (n.360-16_360-15insATACACCCCAGGCTAAGTGG) c.426-16_426-15insATACACCCCAGGCTAAGTGG | |
12 | g.21176761G>A | CA10637000 | SLCO1B1 | c.360-15G>A (n.360-15G>A) c.426-15G>A | ClinVar dbSNP gnomAD v4 |
12 | g.21176761G>C | CA603657679 | SLCO1B1 | c.360-15G>C (n.360-15G>C) c.426-15G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21176761G= | CA2020990584 | SLCO1B1 | c.360-15G= (n.360-15G=) c.426-15G= | |
12 | g.21176762T>A | CA2617896009 | SLCO1B1 | c.360-14T>A (n.360-14T>A) c.426-14T>A | gnomAD v4 |
12 | g.21176764A= | CA2020990585 | SLCO1B1 | c.360-12A= (n.360-12A=) c.426-12A= | |
12 | g.21176764A>G | CA686354267 | SLCO1B1 | c.360-12A>G (n.360-12A>G) c.426-12A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176764A>T | CA2617896012 | SLCO1B1 | c.360-12A>T (n.360-12A>T) c.426-12A>T | gnomAD v4 |
12 | g.21176765T>A | CA6476669 | SLCO1B1 | c.360-11T>A (n.360-11T>A) c.426-11T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21176765T= | CA2020990586 | SLCO1B1 | c.360-11T= (n.360-11T=) c.426-11T= | |
12 | g.21176766G>A | CA2020990588 | SLCO1B1 | c.360-10G>A (n.360-10G>A) c.426-10G>A | dbSNP gnomAD v4 |
12 | g.21176766G= | CA2020990587 | SLCO1B1 | c.360-10G= (n.360-10G=) c.426-10G= | |
12 | g.21176767T>C | CA2617896022 | SLCO1B1 | c.360-9T>C (n.360-9T>C) c.426-9T>C | gnomAD v4 |
12 | g.21176768T>C | CA2617896024 | SLCO1B1 | c.360-8T>C (n.360-8T>C) c.426-8T>C | gnomAD v4 |
12 | g.21176769C>A | CA2617896025 | SLCO1B1 | c.360-7C>A (n.360-7C>A) c.426-7C>A | gnomAD v4 |
12 | g.21176770T>C | CA2617896028 | SLCO1B1 | c.360-6T>C (n.360-6T>C) c.426-6T>C | gnomAD v4 |
12 | g.21176771del | CA2617896032 | SLCO1B1 | c.360-5del (n.360-5del) c.426-5del | gnomAD v4 |
12 | g.21176771T>C | CA2564024184 | SLCO1B1 | c.360-5T>C (n.360-5T>C) c.426-5T>C | gnomAD v4 |
12 | g.21176772A>G | CA2617896034 | SLCO1B1 | c.360-4A>G (n.360-4A>G) c.426-4A>G | gnomAD v4 |
12 | g.21176773C>A | CA2617896037 | SLCO1B1 | c.360-3C>A (n.360-3C>A) c.426-3C>A | gnomAD v4 |
12 | g.21176773C>T | CA2617896039 | SLCO1B1 | c.360-3C>T (n.360-3C>T) c.426-3C>T | gnomAD v4 |
12 | g.21176774A>C | CA384104726 | SLCO1B1 | c.360-2A>C (n.360-2A>C) c.426-2A>C | |
12 | g.21176774A>G | CA384104728 | SLCO1B1 | c.360-2A>G (n.360-2A>G) c.426-2A>G | gnomAD v4 |
12 | g.21176774A>T | CA384104727 | SLCO1B1 | c.360-2A>T (n.360-2A>T) c.426-2A>T | |
12 | g.21176775G>A | CA384104729 | SLCO1B1 | c.360-1G>A (n.360-1G>A) c.426-1G>A | gnomAD v4 |
12 | g.21176775G>C | CA384104730 | SLCO1B1 | c.360-1G>C (n.360-1G>C) c.426-1G>C | |
12 | g.21176775G>T | CA384104731 | SLCO1B1 | c.360-1G>T (n.360-1G>T) c.426-1G>T | |
12 | g.21176776T>A | CA384104732 | SLCO1B1 | c.360T>A (p.Tyr120Ter) c.426T>A | |
12 | g.21176776T>C | CA478866735 | SLCO1B1 | c.360T>C (p.Tyr120=) c.426T>C | gnomAD v4 |
12 | g.21176776T>G | CA384104733 | SLCO1B1 | c.360T>G (p.Tyr120Ter) c.426T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21176776T= | CA2020990589 | SLCO1B1 | c.360T= (p.Tyr120=) c.426T= | |
12 | g.21176777del | CA2617896077 | SLCO1B1 | c.361del (p.Tyr121ThrfsTer23) c.427del | gnomAD v4 |
12 | g.21176777T>A | CA384104734 | SLCO1B1 | c.361T>A (p.Tyr121Asn) c.427T>A | |
12 | g.21176777T>C | CA384104735 | SLCO1B1 | c.361T>C (p.Tyr121His) c.427T>C | COSMIC |
12 | g.21176777T>G | CA384104736 | SLCO1B1 | c.361T>G (p.Tyr121Asp) c.427T>G |