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.21174501C>A | CA2575096324 | SLCO1B1 | c.227-76C>A (n.227-76C>A) c.426-2275C>A | gnomAD v4 |
| 12 | g.21174501C>T | CA2617895028 | SLCO1B1 | c.227-76C>T (n.227-76C>T) c.426-2275C>T | gnomAD v4 |
| 12 | g.21174502A= | CA2020989565 | SLCO1B1 | c.227-75A= (n.227-75A=) c.426-2274A= | |
| 12 | g.21174502A>G | CA2020989566 | SLCO1B1 | c.227-75A>G (n.227-75A>G) c.426-2274A>G | dbSNP gnomAD v4 |
| 12 | g.21174502A>T | CA2617895030 | SLCO1B1 | c.227-75A>T (n.227-75A>T) c.426-2274A>T | gnomAD v4 |
| 12 | g.21174504C>A | CA686352909 | SLCO1B1 | c.227-73C>A (n.227-73C>A) c.426-2272C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174504C= | CA2020989568 | SLCO1B1 | c.227-73C= (n.227-73C=) c.426-2272C= | |
| 12 | g.21174504C>T | CA2020989567 | SLCO1B1 | c.227-73C>T (n.227-73C>T) c.426-2272C>T | dbSNP |
| 12 | g.21174505C>A | CA2617895032 | SLCO1B1 | c.227-72C>A (n.227-72C>A) c.426-2271C>A | gnomAD v4 |
| 12 | g.21174505C= | CA2020989569 | SLCO1B1 | c.227-72C= (n.227-72C=) c.426-2271C= | |
| 12 | g.21174505C>G | CA233559596 | SLCO1B1 | c.227-72C>G (n.227-72C>G) c.426-2271C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174505C>T | CA2020989570 | SLCO1B1 | c.227-72C>T (n.227-72C>T) c.426-2271C>T | dbSNP gnomAD v4 |
| 12 | g.21174506A>C | CA2617895035 | SLCO1B1 | c.227-71A>C (n.227-71A>C) c.426-2270A>C | gnomAD v4 |
| 12 | g.21174506A>G | CA2515947304 | SLCO1B1 | c.227-71A>G (n.227-71A>G) c.426-2270A>G | |
| 12 | g.21174507T>G | CA686352912 | SLCO1B1 | c.227-70T>G (n.227-70T>G) c.426-2269T>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174507T= | CA2020989571 | SLCO1B1 | c.227-70T= (n.227-70T=) c.426-2269T= | |
| 12 | g.21174508T>C | CA2617895037 | SLCO1B1 | c.227-69T>C (n.227-69T>C) c.426-2268T>C | gnomAD v4 |
| 12 | g.21174509C>A | CA945496138 | SLCO1B1 | c.227-68C>A (n.227-68C>A) c.426-2267C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174509C= | CA2020989572 | SLCO1B1 | c.227-68C= (n.227-68C=) c.426-2267C= | |
| 12 | g.21174510T>C | CA2617895039 | SLCO1B1 | c.227-67T>C (n.227-67T>C) c.426-2266T>C | gnomAD v4 |
| 12 | g.21174511G>A | CA686352913 | SLCO1B1 | c.227-66G>A (n.227-66G>A) c.426-2265G>A | dbSNP |
| 12 | g.21174511G= | CA2020989573 | SLCO1B1 | c.227-66G= (n.227-66G=) c.426-2265G= | |
| 12 | g.21174511G>T | CA2575096325 | SLCO1B1 | c.227-66G>T (n.227-66G>T) c.426-2265G>T | gnomAD v4 |
| 12 | g.21174514del | CA2617895041 | SLCO1B1 | c.227-63del (n.227-63del) c.426-2262del | gnomAD v4 |
| 12 | g.21174512G>A | CA603657583 | SLCO1B1 | c.227-65G>A (n.227-65G>A) c.426-2264G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174512G= | CA2020989574 | SLCO1B1 | c.227-65G= (n.227-65G=) c.426-2264G= | |
| 12 | g.21174512G>T | CA2617895042 | SLCO1B1 | c.227-65G>T (n.227-65G>T) c.426-2264G>T | gnomAD v4 |
| 12 | g.21174513G>A | CA945496147 | SLCO1B1 | c.227-64G>A (n.227-64G>A) c.426-2263G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174513G= | CA2020989575 | SLCO1B1 | c.227-64G= (n.227-64G=) c.426-2263G= | |
| 12 | g.21174513G>T | CA2617895045 | SLCO1B1 | c.227-64G>T (n.227-64G>T) c.426-2263G>T | gnomAD v4 |
| 12 | g.21174514G>A | CA2617895047 | SLCO1B1 | c.227-63G>A (n.227-63G>A) c.426-2262G>A | gnomAD v4 |
| 12 | g.21174515T>C | CA2617895050 | SLCO1B1 | c.227-62T>C (n.227-62T>C) c.426-2261T>C | gnomAD v4 |
| 12 | g.21174518del | CA2617895048 | SLCO1B1 | c.227-59del (n.227-59del) c.426-2258del | gnomAD v4 |
| 12 | g.21174519C>A | CA2617895053 | SLCO1B1 | c.227-58C>A (n.227-58C>A) c.426-2257C>A | gnomAD v4 |
| 12 | g.21174519C= | CA2020989576 | SLCO1B1 | c.227-58C= (n.227-58C=) c.426-2257C= | |
| 12 | g.21174519C>T | CA945496148 | SLCO1B1 | c.227-58C>T (n.227-58C>T) c.426-2257C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174520A= | CA2020989577 | SLCO1B1 | c.227-57A= (n.227-57A=) c.426-2256A= | |
| 12 | g.21174520A>G | CA2020989578 | SLCO1B1 | c.227-57A>G (n.227-57A>G) c.426-2256A>G | dbSNP gnomAD v4 |
| 12 | g.21174521A= | CA2020989579 | SLCO1B1 | c.227-56A= (n.227-56A=) c.426-2255A= | |
| 12 | g.21174521A>G | CA233559600 | SLCO1B1 | c.227-56A>G (n.227-56A>G) c.426-2255A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174523T>C | CA2020989581 | SLCO1B1 | c.227-54T>C (n.227-54T>C) c.426-2253T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174523T>G | CA2617895057 | SLCO1B1 | c.227-54T>G (n.227-54T>G) c.426-2253T>G | gnomAD v4 |
| 12 | g.21174523T= | CA2020989580 | SLCO1B1 | c.227-54T= (n.227-54T=) c.426-2253T= | |
| 12 | g.21174524C>A | CA2617895061 | SLCO1B1 | c.227-53C>A (n.227-53C>A) c.426-2252C>A | gnomAD v4 |
| 12 | g.21174524C>T | CA2617895062 | SLCO1B1 | c.227-53C>T (n.227-53C>T) c.426-2252C>T | gnomAD v4 |
| 12 | g.21174525T>A | CA2020989583 | SLCO1B1 | c.227-52T>A (n.227-52T>A) c.426-2251T>A | dbSNP gnomAD v4 |
| 12 | g.21174525T= | CA2020989582 | SLCO1B1 | c.227-52T= (n.227-52T=) c.426-2251T= | |
| 12 | g.21174526A>G | CA2575096326 | SLCO1B1 | c.227-51A>G (n.227-51A>G) c.426-2250A>G | gnomAD v4 |
| 12 | g.21174527G>A | CA2617895065 | SLCO1B1 | c.227-50G>A (n.227-50G>A) c.426-2249G>A | gnomAD v4 |
| 12 | g.21174527G>T | CA2617895067 | SLCO1B1 | c.227-50G>T (n.227-50G>T) c.426-2249G>T | gnomAD v4 |
| 12 | g.21174528A>G | CA2617895068 | SLCO1B1 | c.227-49A>G (n.227-49A>G) c.426-2248A>G | gnomAD v4 |
| 12 | g.21174529C>A | CA2617895069 | SLCO1B1 | c.227-48C>A (n.227-48C>A) c.426-2247C>A | gnomAD v4 |
| 12 | g.21174529C= | CA2020989584 | SLCO1B1 | c.227-48C= (n.227-48C=) c.426-2247C= | |
| 12 | g.21174529C>G | CA2617895070 | SLCO1B1 | c.227-48C>G (n.227-48C>G) c.426-2247C>G | gnomAD v4 |
| 12 | g.21174529C>T | CA6476624 | SLCO1B1 | c.227-48C>T (n.227-48C>T) c.426-2247C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174530G>A | CA603657584 | SLCO1B1 | c.227-47G>A (n.227-47G>A) c.426-2246G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174530G= | CA2020989585 | SLCO1B1 | c.227-47G= (n.227-47G=) c.426-2246G= | |
| 12 | g.21174531C>A | CA2020989587 | SLCO1B1 | c.227-46C>A (n.227-46C>A) c.426-2245C>A | dbSNP |
| 12 | g.21174531C= | CA2020989586 | SLCO1B1 | c.227-46C= (n.227-46C=) c.426-2245C= | |
| 12 | g.21174534A= | CA2020989588 | SLCO1B1 | c.227-43A= (n.227-43A=) c.426-2242A= | |
| 12 | g.21174534A>T | CA2020989589 | SLCO1B1 | c.227-43A>T (n.227-43A>T) c.426-2242A>T | dbSNP |
| 12 | g.21174535A= | CA2020989590 | SLCO1B1 | c.227-42A= (n.227-42A=) c.426-2241A= | |
| 12 | g.21174535A>G | CA945496155 | SLCO1B1 | c.227-42A>G (n.227-42A>G) c.426-2241A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174538G>C | CA2617895072 | SLCO1B1 | c.227-39G>C (n.227-39G>C) c.426-2238G>C | gnomAD v4 |
| 12 | g.21174538G>T | CA2617895073 | SLCO1B1 | c.227-39G>T (n.227-39G>T) c.426-2238G>T | gnomAD v4 |
| 12 | g.21174540dup | CA2617895074 | SLCO1B1 | c.227-37dup (n.227-37dup) c.426-2236dup | gnomAD v4 |
| 12 | g.21174542T>A | CA2617895075 | SLCO1B1 | c.227-35T>A (n.227-35T>A) c.426-2234T>A | gnomAD v4 |
| 12 | g.21174545G>T | CA2617895076 | SLCO1B1 | c.227-32G>T (n.227-32G>T) c.426-2231G>T | gnomAD v4 |
| 12 | g.21174546C= | CA2020989591 | SLCO1B1 | c.227-31C= (n.227-31C=) c.426-2230C= | |
| 12 | g.21174546C>T | CA233559608 | SLCO1B1 | c.227-31C>T (n.227-31C>T) c.426-2230C>T | dbSNP gnomAD v4 |
| 12 | g.21174548G>A | CA233559611 | SLCO1B1 | c.227-29G>A (n.227-29G>A) c.426-2228G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174548G= | CA2020989592 | SLCO1B1 | c.227-29G= (n.227-29G=) c.426-2228G= | |
| 12 | g.21174548G>T | CA6476625 | SLCO1B1 | c.227-29G>T (n.227-29G>T) c.426-2228G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174549T>C | CA2020989594 | SLCO1B1 | c.227-28T>C (n.227-28T>C) c.426-2227T>C | dbSNP |
| 12 | g.21174549T>G | CA2617895085 | SLCO1B1 | c.227-28T>G (n.227-28T>G) c.426-2227T>G | gnomAD v4 |
| 12 | g.21174549T= | CA2020989593 | SLCO1B1 | c.227-28T= (n.227-28T=) c.426-2227T= | |
| 12 | g.21174551T>C | CA2617895086 | SLCO1B1 | c.227-26T>C (n.227-26T>C) c.426-2225T>C | gnomAD v4 |
| 12 | g.21174552C>A | CA2617895088 | SLCO1B1 | c.227-25C>A (n.227-25C>A) c.426-2224C>A | gnomAD v4 |
| 12 | g.21174553A>T | CA2575096327 | SLCO1B1 | c.227-24A>T (n.227-24A>T) c.426-2223A>T | gnomAD v4 |
| 12 | g.21174554A>G | CA2575096328 | SLCO1B1 | c.227-23A>G (n.227-23A>G) c.426-2222A>G | gnomAD v4 |
| 12 | g.21174555C>G | CA2575096329 | SLCO1B1 | c.227-22C>G (n.227-22C>G) c.426-2221C>G | gnomAD v4 |
| 12 | g.21174556A= | CA2020989595 | SLCO1B1 | c.227-21A= (n.227-21A=) c.426-2220A= | |
| 12 | g.21174556A>G | CA6476626 | SLCO1B1 | c.227-21A>G (n.227-21A>G) c.426-2220A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174557T>C | CA686352927 | SLCO1B1 | c.227-20T>C (n.227-20T>C) c.426-2219T>C | dbSNP gnomAD v4 |
| 12 | g.21174557T= | CA2020989596 | SLCO1B1 | c.227-20T= (n.227-20T=) c.426-2219T= | |
| 12 | g.21174558A>T | CA2617895111 | SLCO1B1 | c.227-19A>T (n.227-19A>T) c.426-2218A>T | gnomAD v4 |
| 12 | g.21174559A= | CA2020989597 | SLCO1B1 | c.227-18A= (n.227-18A=) c.426-2217A= | |
| 12 | g.21174559A>G | CA603657585 | SLCO1B1 | c.227-18A>G (n.227-18A>G) c.426-2217A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174562T>C | CA2617895114 | SLCO1B1 | c.227-15T>C (n.227-15T>C) c.426-2214T>C | gnomAD v4 |
| 12 | g.21174563T>A | CA6476627 | SLCO1B1 | c.227-14T>A (n.227-14T>A) c.426-2213T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174563T= | CA2020989598 | SLCO1B1 | c.227-14T= (n.227-14T=) c.426-2213T= | |
| 12 | g.21174564G= | CA2020989599 | SLCO1B1 | c.227-13G= (n.227-13G=) c.426-2212G= | |
| 12 | g.21174564G>T | CA603657586 | SLCO1B1 | c.227-13G>T (n.227-13G>T) c.426-2212G>T | dbSNP gnomAD v2 |
| 12 | g.21174565T>C | CA2020989601 | SLCO1B1 | c.227-12T>C (n.227-12T>C) c.426-2211T>C | dbSNP gnomAD v4 |
| 12 | g.21174565T= | CA2020989600 | SLCO1B1 | c.227-12T= (n.227-12T=) c.426-2211T= | |
| 12 | g.21174565_21174575delinsTTCCCTTTCTA | CA2020989602 | SLCO1B1 | c.227-12_227-2delinsTTCCCTTTCTA (n.227-12_227-2delinsTTCCCTTTCTA) c.426-2211_426-2201delinsTTCCCTTTCTA | |
| 12 | g.21174566_21174575del | CA2020989603 | SLCO1B1 | c.227-11_227-2del (n.227-11_227-2del) c.426-2210_426-2201del | dbSNP |
| 12 | g.21174567C>A | CA6476628 | SLCO1B1 | c.227-10C>A (n.227-10C>A) c.426-2209C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174567C= | CA2020989604 | SLCO1B1 | c.227-10C= (n.227-10C=) c.426-2209C= | |
| 12 | g.21174569C= | CA2020989605 | SLCO1B1 | c.227-8C= (n.227-8C=) c.426-2207C= | |
| 12 | g.21174569C>G | CA6476629 | SLCO1B1 | c.227-8C>G (n.227-8C>G) c.426-2207C>G | dbSNP ExAC gnomAD v2 |
| 12 | g.21174572T>C | CA2617895116 | SLCO1B1 | c.227-5T>C (n.227-5T>C) c.426-2204T>C | gnomAD v4 |
| 12 | g.21174572T>G | CA2617895117 | SLCO1B1 | c.227-5T>G (n.227-5T>G) c.426-2204T>G | gnomAD v4 |
| 12 | g.21174573C= | CA2020989606 | SLCO1B1 | c.227-4C= (n.227-4C=) c.426-2203C= | |
| 12 | g.21174573C>G | CA603657587 | SLCO1B1 | c.227-4C>G (n.227-4C>G) c.426-2203C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174575A= | CA2020989607 | SLCO1B1 | c.227-2A= (n.227-2A=) c.426-2201A= | |
| 12 | g.21174575A>C | CA384104051 | SLCO1B1 | c.227-2A>C (n.227-2A>C) c.426-2201A>C | |
| 12 | g.21174575A>G | CA384104050 | SLCO1B1 | c.227-2A>G (n.227-2A>G) c.426-2201A>G | dbSNP |
| 12 | g.21174575A>T | CA384104052 | SLCO1B1 | c.227-2A>T (n.227-2A>T) c.426-2201A>T | |
| 12 | g.21174576G>A | CA384104053 | SLCO1B1 | c.227-1G>A (n.227-1G>A) c.426-2200G>A | gnomAD v4 |
| 12 | g.21174576G>C | CA384104055 | SLCO1B1 | c.227-1G>C (n.227-1G>C) c.426-2200G>C | |
| 12 | g.21174576G>T | CA384104054 | SLCO1B1 | c.227-1G>T (n.227-1G>T) c.426-2200G>T | |
| 12 | g.21174577G>A | CA233559637 | SLCO1B1 | c.227G>A (p.Gly76Glu) c.426-2199G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174577G>C | CA384104056 | SLCO1B1 | c.227G>C (p.Gly76Ala) c.426-2199G>C | gnomAD v4 |
| 12 | g.21174577G= | CA2020989608 | SLCO1B1 | c.227G= (p.Gly76=) c.426-2199G= | |
| 12 | g.21174577G>T | CA384104057 | SLCO1B1 | c.227G>T (p.Gly76Val) c.426-2199G>T | |
| 12 | g.21174578A>C | CA478866331 | SLCO1B1 | c.228A>C (p.Gly76=) c.426-2198A>C | |
| 12 | g.21174578A>G | CA478866333 | SLCO1B1 | c.228A>G (p.Gly76=) c.426-2198A>G | |
| 12 | g.21174578A>T | CA478866334 | SLCO1B1 | c.228A>T (p.Gly76=) c.426-2198A>T | |
| 12 | g.21174579A>C | CA384104058 | SLCO1B1 | c.229A>C (p.Asn77His) c.426-2197A>C | |
| 12 | g.21174579A>G | CA384104059 | SLCO1B1 | c.229A>G (p.Asn77Asp) c.426-2197A>G | |
| 12 | g.21174579A>T | CA384104060 | SLCO1B1 | c.229A>T (p.Asn77Tyr) c.426-2197A>T | |
| 12 | g.21174580A>C | CA384104061 | SLCO1B1 | c.230A>C (p.Asn77Thr) c.426-2196A>C | |
| 12 | g.21174580A>G | CA384104062 | SLCO1B1 | c.230A>G (p.Asn77Ser) c.426-2196A>G | |
| 12 | g.21174580A>T | CA384104063 | SLCO1B1 | c.230A>T (p.Asn77Ile) c.426-2196A>T | |
| 12 | g.21174581T>A | CA384104064 | SLCO1B1 | c.231T>A (p.Asn77Lys) c.426-2195T>A | |
| 12 | g.21174581T>C | CA478866341 | SLCO1B1 | c.231T>C (p.Asn77=) c.426-2195T>C | |
| 12 | g.21174581T>G | CA384104065 | SLCO1B1 | c.231T>G (p.Asn77Lys) c.426-2195T>G | |
| 12 | g.21174582T>A | CA384104067 | SLCO1B1 | c.232T>A (p.Leu78Met) c.426-2194T>A | |
| 12 | g.21174582T>C | CA478866345 | SLCO1B1 | c.232T>C (p.Leu78=) c.426-2194T>C | |
| 12 | g.21174582T>G | CA384104066 | SLCO1B1 | c.232T>G (p.Leu78Val) c.426-2194T>G | |
| 12 | g.21174583T>A | CA384104068 | SLCO1B1 | c.233T>A (p.Leu78Ter) c.426-2193T>A | |
| 12 | g.21174583T>C | CA384104069 | SLCO1B1 | c.233T>C (p.Leu78Ser) c.426-2193T>C | |
| 12 | g.21174583T>G | CA384104070 | SLCO1B1 | c.233T>G (p.Leu78Trp) c.426-2193T>G | |
| 12 | g.21174584G>A | CA478866350 | SLCO1B1 | c.234G>A (p.Leu78=) c.426-2192G>A | |
| 12 | g.21174584G>C | CA384104071 | SLCO1B1 | c.234G>C (p.Leu78Phe) c.426-2192G>C | |
| 12 | g.21174584G>T | CA384104072 | SLCO1B1 | c.234G>T (p.Leu78Phe) c.426-2192G>T | |
| 12 | g.21174585C>A | CA384104073 | SLCO1B1 | c.235C>A (p.Leu79Ile) c.426-2191C>A | |
| 12 | g.21174585C= | CA2020989609 | SLCO1B1 | c.235C= (p.Leu79=) c.426-2191C= | |
| 12 | g.21174585C>G | CA384104074 | SLCO1B1 | c.235C>G (p.Leu79Val) c.426-2191C>G | |
| 12 | g.21174585C>T | CA6476630 | SLCO1B1 | c.235C>T (p.Leu79Phe) c.426-2191C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174586T>A | CA384104075 | SLCO1B1 | c.236T>A (p.Leu79His) c.426-2190T>A | |
| 12 | g.21174586T>C | CA384104076 | SLCO1B1 | c.236T>C (p.Leu79Pro) c.426-2190T>C | dbSNP gnomAD v4 |
| 12 | g.21174586T>G | CA384104077 | SLCO1B1 | c.236T>G (p.Leu79Arg) c.426-2190T>G | |
| 12 | g.21174586T= | CA2020989610 | SLCO1B1 | c.236T= (p.Leu79=) c.426-2190T= | |
| 12 | g.21174587del | CA2575096330 | SLCO1B1 | c.237del (p.Val80Ter) c.426-2189del | |
| 12 | g.21174587T>A | CA478866360 | SLCO1B1 | c.237T>A (p.Leu79=) c.426-2189T>A | |
| 12 | g.21174587T>C | CA478866362 | SLCO1B1 | c.237T>C (p.Leu79=) c.426-2189T>C | |
| 12 | g.21174587T>G | CA478866363 | SLCO1B1 | c.237T>G (p.Leu79=) c.426-2189T>G | |
| 12 | g.21174588G>A | CA384104078 | SLCO1B1 | c.238G>A (p.Val80Met) c.426-2188G>A | |
| 12 | g.21174588G>C | CA384104079 | SLCO1B1 | c.238G>C (p.Val80Leu) c.426-2188G>C | |
| 12 | g.21174588G= | CA2020989611 | SLCO1B1 | c.238G= (p.Val80=) c.426-2188G= | |
| 12 | g.21174588G>T | CA6476631 | SLCO1B1 | c.238G>T (p.Val80Leu) c.426-2188G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174589T>A | CA384104080 | SLCO1B1 | c.239T>A (p.Val80Glu) c.426-2187T>A | |
| 12 | g.21174589T>C | CA384104081 | SLCO1B1 | c.239T>C (p.Val80Ala) c.426-2187T>C | |
| 12 | g.21174589T>G | CA384104082 | SLCO1B1 | c.239T>G (p.Val80Gly) c.426-2187T>G | |
| 12 | g.21174590G>A | CA478866374 | SLCO1B1 | c.240G>A (p.Val80=) c.426-2186G>A | |
| 12 | g.21174590G>C | CA478866370 | SLCO1B1 | c.240G>C (p.Val80=) c.426-2186G>C | |
| 12 | g.21174590G>T | CA478866372 | SLCO1B1 | c.240G>T (p.Val80=) c.426-2186G>T | gnomAD v4 |
| 12 | g.21174591A>C | CA384104083 | SLCO1B1 | c.241A>C (p.Ile81Leu) c.426-2185A>C | |
| 12 | g.21174591A>G | CA384104084 | SLCO1B1 | c.241A>G (p.Ile81Val) c.426-2185A>G | |
| 12 | g.21174591A>T | CA384104085 | SLCO1B1 | c.241A>T (p.Ile81Phe) c.426-2185A>T | |
| 12 | g.21174591_21174597delinsATTGTAT | CA2020989612 | SLCO1B1 | c.241_247delinsATTGTAT (p.Ile81=) c.426-2185_426-2179delinsATTGTAT | |
| 12 | g.21174592T>A | CA384104088 | SLCO1B1 | c.242T>A (p.Ile81Asn) c.426-2184T>A | |
| 12 | g.21174592T>C | CA384104086 | SLCO1B1 | c.242T>C (p.Ile81Thr) c.426-2184T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174592T>G | CA384104087 | SLCO1B1 | c.242T>G (p.Ile81Ser) c.426-2184T>G | |
| 12 | g.21174592T= | CA2020989613 | SLCO1B1 | c.242T= (p.Ile81=) c.426-2184T= | |
| 12 | g.21174596_21174601del | CA6476632 | SLCO1B1 | c.246_251del (p.Phe83_Val84del) c.426-2180_426-2175del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174593T>A | CA478866383 | SLCO1B1 | c.243T>A (p.Ile81=) c.426-2183T>A | |
| 12 | g.21174593T>C | CA478866386 | SLCO1B1 | c.243T>C (p.Ile81=) c.426-2183T>C | gnomAD v4 |
| 12 | g.21174593T>G | CA384104089 | SLCO1B1 | c.243T>G (p.Ile81Met) c.426-2183T>G | |
| 12 | g.21174594G>A | CA384104090 | SLCO1B1 | c.244G>A (p.Val82Ile) c.426-2182G>A | dbSNP gnomAD v4 |
| 12 | g.21174594G>C | CA384104091 | SLCO1B1 | c.244G>C (p.Val82Leu) c.426-2182G>C | |
| 12 | g.21174594G= | CA2020989614 | SLCO1B1 | c.244G= (p.Val82=) c.426-2182G= | |
| 12 | g.21174594G>T | CA384104092 | SLCO1B1 | c.244G>T (p.Val82Leu) c.426-2182G>T | gnomAD v4 |
| 12 | g.21174595T>A | CA384104093 | SLCO1B1 | c.245T>A (p.Val82Glu) c.426-2181T>A | |
| 12 | g.21174595T>C | CA233559655 | SLCO1B1 | c.245T>C (p.Val82Ala) c.426-2181T>C | dbSNP gnomAD v4 |
| 12 | g.21174595T>G | CA384104094 | SLCO1B1 | c.245T>G (p.Val82Gly) c.426-2181T>G | |
| 12 | g.21174595T= | CA2020989615 | SLCO1B1 | c.245T= (p.Val82=) c.426-2181T= | |
| 12 | g.21174596A>C | CA478866394 | SLCO1B1 | c.246A>C (p.Val82=) c.426-2180A>C | |
| 12 | g.21174596A>G | CA478866396 | SLCO1B1 | c.246A>G (p.Val82=) c.426-2180A>G | gnomAD v4 |
| 12 | g.21174596A>T | CA478866398 | SLCO1B1 | c.246A>T (p.Val82=) c.426-2180A>T | |
| 12 | g.21174597T>A | CA384104095 | SLCO1B1 | c.247T>A (p.Phe83Ile) c.426-2179T>A | |
| 12 | g.21174597T>C | CA384104096 | SLCO1B1 | c.247T>C (p.Phe83Leu) c.426-2179T>C | |
| 12 | g.21174597T>G | CA384104097 | SLCO1B1 | c.247T>G (p.Phe83Val) c.426-2179T>G | |
| 12 | g.21174598T>A | CA384104098 | SLCO1B1 | c.248T>A (p.Phe83Tyr) c.426-2178T>A | |
| 12 | g.21174598T>C | CA384104099 | SLCO1B1 | c.248T>C (p.Phe83Ser) c.426-2178T>C | |
| 12 | g.21174598T>G | CA384104100 | SLCO1B1 | c.248T>G (p.Phe83Cys) c.426-2178T>G | COSMIC |
| 12 | g.21174599T>A | CA384104101 | SLCO1B1 | c.249T>A (p.Phe83Leu) c.426-2177T>A | |
| 12 | g.21174599T>C | CA478866408 | SLCO1B1 | c.249T>C (p.Phe83=) c.426-2177T>C | gnomAD v4 |
| 12 | g.21174599T>G | CA384104102 | SLCO1B1 | c.249T>G (p.Phe83Leu) c.426-2177T>G | |
| 12 | g.21174600G>A | CA6476633 | SLCO1B1 | c.250G>A (p.Val84Met) c.426-2176G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174600G>C | CA384104103 | SLCO1B1 | c.250G>C (p.Val84Leu) c.426-2176G>C | |
| 12 | g.21174600G= | CA2020989616 | SLCO1B1 | c.250G= (p.Val84=) c.426-2176G= | |
| 12 | g.21174600G>T | CA6476634 | SLCO1B1 | c.250G>T (p.Val84Leu) c.426-2176G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174601T>A | CA384104106 | SLCO1B1 | c.251T>A (p.Val84Glu) c.426-2175T>A | |
| 12 | g.21174601T>C | CA384104105 | SLCO1B1 | c.251T>C (p.Val84Ala) c.426-2175T>C | |
| 12 | g.21174601T>G | CA384104104 | SLCO1B1 | c.251T>G (p.Val84Gly) c.426-2175T>G |