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.21174623A= | CA2020989621 | SLCO1B1 | c.273A= (p.Leu91=) c.426-2153A= | |
| 12 | g.21174623A>C | CA478866500 | SLCO1B1 | c.273A>C (p.Leu91=) c.426-2153A>C | |
| 12 | g.21174623A>G | CA6476636 | SLCO1B1 | c.273A>G (p.Leu91=) c.426-2153A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174623A>T | CA478866503 | SLCO1B1 | c.273A>T (p.Leu91=) c.426-2153A>T | gnomAD v4 |
| 12 | g.21174624C>A | CA384104156 | SLCO1B1 | c.274C>A (p.His92Asn) c.426-2152C>A | |
| 12 | g.21174624C= | CA2020989622 | SLCO1B1 | c.274C= (p.His92=) c.426-2152C= | |
| 12 | g.21174624C>G | CA384104157 | SLCO1B1 | c.274C>G (p.His92Asp) c.426-2152C>G | |
| 12 | g.21174624C>T | CA384104158 | SLCO1B1 | c.274C>T (p.His92Tyr) c.426-2152C>T | dbSNP |
| 12 | g.21174625A= | CA2020989623 | SLCO1B1 | c.275A= (p.His92=) c.426-2151A= | |
| 12 | g.21174625A>C | CA384104159 | SLCO1B1 | c.275A>C (p.His92Pro) c.426-2151A>C | |
| 12 | g.21174625A>G | CA384104160 | SLCO1B1 | c.275A>G (p.His92Arg) c.426-2151A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174625A>T | CA384104161 | SLCO1B1 | c.275A>T (p.His92Leu) c.426-2151A>T | |
| 12 | g.21174626T>A | CA384104162 | SLCO1B1 | c.276T>A (p.His92Gln) c.426-2150T>A | |
| 12 | g.21174626T>C | CA478866510 | SLCO1B1 | c.276T>C (p.His92=) c.426-2150T>C | gnomAD v4 |
| 12 | g.21174626T>G | CA384104163 | SLCO1B1 | c.276T>G (p.His92Gln) c.426-2150T>G | |
| 12 | g.21174627A>C | CA478866512 | SLCO1B1 | c.277A>C (p.Arg93=) c.426-2149A>C | |
| 12 | g.21174627A>G | CA384104165 | SLCO1B1 | c.277A>G (p.Arg93Gly) c.426-2149A>G | |
| 12 | g.21174627A>T | CA384104164 | SLCO1B1 | c.277A>T (p.Arg93Ter) c.426-2149A>T | |
| 12 | g.21174628G>A | CA384104166 | SLCO1B1 | c.278G>A (p.Arg93Lys) c.426-2148G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174628G>C | CA384104168 | SLCO1B1 | c.278G>C (p.Arg93Thr) c.426-2148G>C | |
| 12 | g.21174628G= | CA2020989624 | SLCO1B1 | c.278G= (p.Arg93=) c.426-2148G= | |
| 12 | g.21174628G>T | CA384104167 | SLCO1B1 | c.278G>T (p.Arg93Ile) c.426-2148G>T | |
| 12 | g.21174628_21174629delinsGA | CA2020989625 | SLCO1B1 | c.278_279delinsGA (p.Arg93=) c.426-2148_426-2147delinsGA | |
| 12 | g.21174629del | CA603657588 | SLCO1B1 | c.279del (p.Arg93SerfsTer4) c.426-2147del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174629A= | CA2020989626 | SLCO1B1 | c.279A= (p.Arg93=) c.426-2147A= | |
| 12 | g.21174629A>C | CA384104169 | SLCO1B1 | c.279A>C (p.Arg93Ser) c.426-2147A>C | |
| 12 | g.21174629A>G | CA6476637 | SLCO1B1 | c.279A>G (p.Arg93=) c.426-2147A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174629A>T | CA384104170 | SLCO1B1 | c.279A>T (p.Arg93Ser) c.426-2147A>T | |
| 12 | g.21174630C>A | CA6476638 | SLCO1B1 | c.280C>A (p.Pro94Thr) c.426-2146C>A | dbSNP ExAC COSMIC |
| 12 | g.21174630C= | CA2020989627 | SLCO1B1 | c.280C= (p.Pro94=) c.426-2146C= | |
| 12 | g.21174630C>G | CA384104171 | SLCO1B1 | c.280C>G (p.Pro94Ala) c.426-2146C>G | |
| 12 | g.21174630C>T | CA384104172 | SLCO1B1 | c.280C>T (p.Pro94Ser) c.426-2146C>T | |
| 12 | g.21174631C>A | CA384104173 | SLCO1B1 | c.281C>A (p.Pro94Gln) c.426-2145C>A | |
| 12 | g.21174631C>G | CA384104174 | SLCO1B1 | c.281C>G (p.Pro94Arg) c.426-2145C>G | |
| 12 | g.21174631C>T | CA384104175 | SLCO1B1 | c.281C>T (p.Pro94Leu) c.426-2145C>T | gnomAD v4 |
| 12 | g.21174632A>C | CA478866541 | SLCO1B1 | c.282A>C (p.Pro94=) c.426-2144A>C | |
| 12 | g.21174632A>G | CA478866537 | SLCO1B1 | c.282A>G (p.Pro94=) c.426-2144A>G | |
| 12 | g.21174632A>T | CA478866539 | SLCO1B1 | c.282A>T (p.Pro94=) c.426-2144A>T | |
| 12 | g.21174634del | CA2580085225 | SLCO1B1 | c.284del (p.Lys95SerfsTer2) c.426-2142del | ClinVar gnomAD v4 |
| 12 | g.21174633A= | CA2020989628 | SLCO1B1 | c.283A= (p.Lys95=) c.426-2143A= | |
| 12 | g.21174633A>C | CA384104176 | SLCO1B1 | c.283A>C (p.Lys95Gln) c.426-2143A>C | |
| 12 | g.21174633A>G | CA384104177 | SLCO1B1 | c.283A>G (p.Lys95Glu) c.426-2143A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174633A>T | CA384104178 | SLCO1B1 | c.283A>T (p.Lys95Ter) c.426-2143A>T | |
| 12 | g.21174634A>C | CA384104179 | SLCO1B1 | c.284A>C (p.Lys95Thr) c.426-2142A>C | |
| 12 | g.21174634A>G | CA384104180 | SLCO1B1 | c.284A>G (p.Lys95Arg) c.426-2142A>G | |
| 12 | g.21174634A>T | CA384104181 | SLCO1B1 | c.284A>T (p.Lys95Met) c.426-2142A>T | |
| 12 | g.21174635G>A | CA478866550 | SLCO1B1 | c.285G>A (p.Lys95=) c.426-2141G>A | dbSNP gnomAD v4 |
| 12 | g.21174635G>C | CA384104182 | SLCO1B1 | c.285G>C (p.Lys95Asn) c.426-2141G>C | |
| 12 | g.21174635G= | CA2020989629 | SLCO1B1 | c.285G= (p.Lys95=) c.426-2141G= | |
| 12 | g.21174635G>T | CA384104183 | SLCO1B1 | c.285G>T (p.Lys95Asn) c.426-2141G>T | gnomAD v4 |
| 12 | g.21174636T>A | CA384104184 | SLCO1B1 | c.286T>A (p.Leu96Ile) c.426-2140T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174636T>C | CA478866558 | SLCO1B1 | c.286T>C (p.Leu96=) c.426-2140T>C | |
| 12 | g.21174636T>G | CA384104185 | SLCO1B1 | c.286T>G (p.Leu96Val) c.426-2140T>G | gnomAD v4 |
| 12 | g.21174636T= | CA2020989630 | SLCO1B1 | c.286T= (p.Leu96=) c.426-2140T= | |
| 12 | g.21174637T>A | CA384104186 | SLCO1B1 | c.287T>A (p.Leu96Ter) c.426-2139T>A | |
| 12 | g.21174637T>C | CA384104187 | SLCO1B1 | c.287T>C (p.Leu96Ser) c.426-2139T>C | |
| 12 | g.21174637T>G | CA384104188 | SLCO1B1 | c.287T>G (p.Leu96Ter) c.426-2139T>G | gnomAD v4 |
| 12 | g.21174638A>C | CA384104189 | SLCO1B1 | c.288A>C (p.Leu96Phe) c.426-2138A>C | |
| 12 | g.21174638A>G | CA478866560 | SLCO1B1 | c.288A>G (p.Leu96=) c.426-2138A>G | |
| 12 | g.21174638A>T | CA384104190 | SLCO1B1 | c.288A>T (p.Leu96Phe) c.426-2138A>T | |
| 12 | g.21174639A>C | CA384104191 | SLCO1B1 | c.289A>C (p.Ile97Leu) c.426-2137A>C | |
| 12 | g.21174639A>G | CA384104192 | SLCO1B1 | c.289A>G (p.Ile97Val) c.426-2137A>G | |
| 12 | g.21174639A>T | CA384104193 | SLCO1B1 | c.289A>T (p.Ile97Phe) c.426-2137A>T | |
| 12 | g.21174640T>A | CA384104195 | SLCO1B1 | c.290T>A (p.Ile97Asn) c.426-2136T>A | |
| 12 | g.21174640T>C | CA233559685 | SLCO1B1 | c.290T>C (p.Ile97Thr) c.426-2136T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174640T>G | CA384104194 | SLCO1B1 | c.290T>G (p.Ile97Ser) c.426-2136T>G | |
| 12 | g.21174640T= | CA2020989631 | SLCO1B1 | c.290T= (p.Ile97=) c.426-2136T= | |
| 12 | g.21174641T>A | CA478866562 | SLCO1B1 | c.291T>A (p.Ile97=) c.426-2135T>A | |
| 12 | g.21174641T>C | CA478866563 | SLCO1B1 | c.291T>C (p.Ile97=) c.426-2135T>C | |
| 12 | g.21174641T>G | CA384104196 | SLCO1B1 | c.291T>G (p.Ile97Met) c.426-2135T>G | |
| 12 | g.21174642G>A | CA384104197 | SLCO1B1 | c.292G>A (p.Gly98Arg) c.426-2134G>A | COSMIC |
| 12 | g.21174642G>C | CA384104198 | SLCO1B1 | c.292G>C (p.Gly98Arg) c.426-2134G>C | |
| 12 | g.21174642G>T | CA384104199 | SLCO1B1 | c.292G>T (p.Gly98Ter) c.426-2134G>T | |
| 12 | g.21174643G>A | CA384104200 | SLCO1B1 | c.293G>A (p.Gly98Glu) c.426-2133G>A | |
| 12 | g.21174643G>C | CA384104201 | SLCO1B1 | c.293G>C (p.Gly98Ala) c.426-2133G>C | dbSNP |
| 12 | g.21174643G= | CA2020989632 | SLCO1B1 | c.293G= (p.Gly98=) c.426-2133G= | |
| 12 | g.21174643G>T | CA384104202 | SLCO1B1 | c.293G>T (p.Gly98Val) c.426-2133G>T | |
| 12 | g.21174644A>C | CA478866567 | SLCO1B1 | c.294A>C (p.Gly98=) c.426-2132A>C | |
| 12 | g.21174644A>G | CA478866568 | SLCO1B1 | c.294A>G (p.Gly98=) c.426-2132A>G | |
| 12 | g.21174644A>T | CA478866570 | SLCO1B1 | c.294A>T (p.Gly98=) c.426-2132A>T | |
| 12 | g.21174645A>C | CA384104203 | SLCO1B1 | c.295A>C (p.Ile99Leu) c.426-2131A>C | |
| 12 | g.21174645A>G | CA384104204 | SLCO1B1 | c.295A>G (p.Ile99Val) c.426-2131A>G | |
| 12 | g.21174645A>T | CA384104205 | SLCO1B1 | c.295A>T (p.Ile99Phe) c.426-2131A>T | gnomAD v4 |
| 12 | g.21174646T>A | CA384104206 | SLCO1B1 | c.296T>A (p.Ile99Asn) c.426-2130T>A | |
| 12 | g.21174646T>C | CA384104207 | SLCO1B1 | c.296T>C (p.Ile99Thr) c.426-2130T>C | |
| 12 | g.21174646T>G | CA384104208 | SLCO1B1 | c.296T>G (p.Ile99Ser) c.426-2130T>G | |
| 12 | g.21174647C>A | CA233559688 | SLCO1B1 | c.297C>A (p.Ile99=) c.426-2129C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174647C= | CA2020989633 | SLCO1B1 | c.297C= (p.Ile99=) c.426-2129C= | |
| 12 | g.21174647C>G | CA384104209 | SLCO1B1 | c.297C>G (p.Ile99Met) c.426-2129C>G | |
| 12 | g.21174647C>T | CA6476639 | SLCO1B1 | c.297C>T (p.Ile99=) c.426-2129C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174648G>A | CA6476640 | SLCO1B1 | c.298G>A (p.Gly100Ser) c.426-2128G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174648G>C | CA384104210 | SLCO1B1 | c.298G>C (p.Gly100Arg) c.426-2128G>C | |
| 12 | g.21174648G= | CA2020989634 | SLCO1B1 | c.298G= (p.Gly100=) c.426-2128G= | |
| 12 | g.21174648G>T | CA384104211 | SLCO1B1 | c.298G>T (p.Gly100Cys) c.426-2128G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174649G>A | CA384104212 | SLCO1B1 | c.299G>A (p.Gly100Asp) c.426-2127G>A | |
| 12 | g.21174649G>C | CA384104213 | SLCO1B1 | c.299G>C (p.Gly100Ala) c.426-2127G>C | |
| 12 | g.21174649G= | CA2020989635 | SLCO1B1 | c.299G= (p.Gly100=) c.426-2127G= | |
| 12 | g.21174649G>T | CA384104214 | SLCO1B1 | c.299G>T (p.Gly100Val) c.426-2127G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174650T>A | CA6476641 | SLCO1B1 | c.300T>A (p.Gly100=) c.426-2126T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174650T>C | CA478866576 | SLCO1B1 | c.300T>C (p.Gly100=) c.426-2126T>C | |
| 12 | g.21174650T>G | CA478866578 | SLCO1B1 | c.300T>G (p.Gly100=) c.426-2126T>G | |
| 12 | g.21174650T= | CA2020989637 | SLCO1B1 | c.300T= (p.Gly100=) c.426-2126T= | |
| 12 | g.21174650_21174652delinsTTG | CA2020989636 | SLCO1B1 | c.300_302delinsTTG (p.Gly100=) c.426-2126_426-2124delinsTTG | |
| 12 | g.21174651T>A | CA384104215 | SLCO1B1 | c.301T>A (p.Cys101Ser) c.426-2125T>A | COSMIC |
| 12 | g.21174651T>C | CA384104216 | SLCO1B1 | c.301T>C (p.Cys101Arg) c.426-2125T>C | |
| 12 | g.21174651T>G | CA384104217 | SLCO1B1 | c.301T>G (p.Cys101Gly) c.426-2125T>G | |
| 12 | g.21174652_21174653del | CA6476642 | SLCO1B1 | c.302_303del (p.Cys101PhefsTer24) c.426-2124_426-2123del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174652G>A | CA233559716 | SLCO1B1 | c.302G>A (p.Cys101Tyr) c.426-2124G>A | dbSNP |
| 12 | g.21174652G>C | CA384104218 | SLCO1B1 | c.302G>C (p.Cys101Ser) c.426-2124G>C | |
| 12 | g.21174652G= | CA2020989638 | SLCO1B1 | c.302G= (p.Cys101=) c.426-2124G= | |
| 12 | g.21174652G>T | CA384104219 | SLCO1B1 | c.302G>T (p.Cys101Phe) c.426-2124G>T | |
| 12 | g.21174653T>A | CA384104221 | SLCO1B1 | c.303T>A (p.Cys101Ter) c.426-2123T>A | |
| 12 | g.21174653T>C | CA478866579 | SLCO1B1 | c.303T>C (p.Cys101=) c.426-2123T>C | dbSNP |
| 12 | g.21174653T>G | CA384104220 | SLCO1B1 | c.303T>G (p.Cys101Trp) c.426-2123T>G | |
| 12 | g.21174653T= | CA2020989639 | SLCO1B1 | c.303T= (p.Cys101=) c.426-2123T= | |
| 12 | g.21174654T>A | CA384104222 | SLCO1B1 | c.304T>A (p.Phe102Ile) c.426-2122T>A | |
| 12 | g.21174654T>C | CA384104223 | SLCO1B1 | c.304T>C (p.Phe102Leu) c.426-2122T>C | |
| 12 | g.21174654T>G | CA384104224 | SLCO1B1 | c.304T>G (p.Phe102Val) c.426-2122T>G | |
| 12 | g.21174655T>A | CA384104225 | SLCO1B1 | c.305T>A (p.Phe102Tyr) c.426-2121T>A | |
| 12 | g.21174655T>C | CA384104226 | SLCO1B1 | c.305T>C (p.Phe102Ser) c.426-2121T>C | |
| 12 | g.21174655T>G | CA384104227 | SLCO1B1 | c.305T>G (p.Phe102Cys) c.426-2121T>G | |
| 12 | g.21174656C>A | CA384104228 | SLCO1B1 | c.306C>A (p.Phe102Leu) c.426-2120C>A | |
| 12 | g.21174656C>G | CA384104229 | SLCO1B1 | c.306C>G (p.Phe102Leu) c.426-2120C>G | |
| 12 | g.21174656C>T | CA478866583 | SLCO1B1 | c.306C>T (p.Phe102=) c.426-2120C>T | dbSNP gnomAD v4 |
| 12 | g.21174657A>C | CA384104230 | SLCO1B1 | c.307A>C (p.Ile103Leu) c.426-2119A>C | |
| 12 | g.21174657A>G | CA384104232 | SLCO1B1 | c.307A>G (p.Ile103Val) c.426-2119A>G | gnomAD v4 |
| 12 | g.21174657A>T | CA384104231 | SLCO1B1 | c.307A>T (p.Ile103Phe) c.426-2119A>T | |
| 12 | g.21174658T>A | CA384104233 | SLCO1B1 | c.308T>A (p.Ile103Asn) c.426-2118T>A | |
| 12 | g.21174658T>C | CA233559719 | SLCO1B1 | c.308T>C (p.Ile103Thr) c.426-2118T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174658T>G | CA384104234 | SLCO1B1 | c.308T>G (p.Ile103Ser) c.426-2118T>G | |
| 12 | g.21174658T= | CA2020989640 | SLCO1B1 | c.308T= (p.Ile103=) c.426-2118T= | |
| 12 | g.21174659T>A | CA478866584 | SLCO1B1 | c.309T>A (p.Ile103=) c.426-2117T>A | |
| 12 | g.21174659T>C | CA478866585 | SLCO1B1 | c.309T>C (p.Ile103=) c.426-2117T>C | |
| 12 | g.21174659T>G | CA384104235 | SLCO1B1 | c.309T>G (p.Ile103Met) c.426-2117T>G | |
| 12 | g.21174660A= | CA2020989641 | SLCO1B1 | c.310A= (p.Met104=) c.426-2116A= | |
| 12 | g.21174660A>C | CA384104238 | SLCO1B1 | c.310A>C (p.Met104Leu) c.426-2116A>C | |
| 12 | g.21174660A>G | CA384104236 | SLCO1B1 | c.310A>G (p.Met104Val) c.426-2116A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174660A>T | CA384104237 | SLCO1B1 | c.310A>T (p.Met104Leu) c.426-2116A>T | |
| 12 | g.21174661T>A | CA384104239 | SLCO1B1 | c.311T>A (p.Met104Lys) c.426-2115T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174661T>C | CA384104240 | SLCO1B1 | c.311T>C (p.Met104Thr) c.426-2115T>C | gnomAD v4 |
| 12 | g.21174661T>G | CA384104241 | SLCO1B1 | c.311T>G (p.Met104Arg) c.426-2115T>G | |
| 12 | g.21174661T= | CA2020989642 | SLCO1B1 | c.311T= (p.Met104=) c.426-2115T= | |
| 12 | g.21174662G>A | CA384104242 | SLCO1B1 | c.312G>A (p.Met104Ile) c.426-2114G>A | |
| 12 | g.21174662G>C | CA384104243 | SLCO1B1 | c.312G>C (p.Met104Ile) c.426-2114G>C | |
| 12 | g.21174662G>T | CA384104244 | SLCO1B1 | c.312G>T (p.Met104Ile) c.426-2114G>T | |
| 12 | g.21174663G>A | CA384104245 | SLCO1B1 | c.313G>A (p.Gly105Arg) c.426-2113G>A | |
| 12 | g.21174663G>C | CA384104246 | SLCO1B1 | c.313G>C (p.Gly105Arg) c.426-2113G>C | |
| 12 | g.21174663G>T | CA384104247 | SLCO1B1 | c.313G>T (p.Gly105Ter) c.426-2113G>T | |
| 12 | g.21174664G>A | CA384104248 | SLCO1B1 | c.314G>A (p.Gly105Glu) c.426-2112G>A | gnomAD v4 |
| 12 | g.21174664G>C | CA384104249 | SLCO1B1 | c.314G>C (p.Gly105Ala) c.426-2112G>C | |
| 12 | g.21174664G= | CA2020989643 | SLCO1B1 | c.314G= (p.Gly105=) c.426-2112G= | |
| 12 | g.21174664G>T | CA6476643 | SLCO1B1 | c.314G>T (p.Gly105Val) c.426-2112G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174665A= | CA2020989644 | SLCO1B1 | c.315A= (p.Gly105=) c.426-2111A= | |
| 12 | g.21174665A>C | CA6476644 | SLCO1B1 | c.315A>C (p.Gly105=) c.426-2111A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174665A>G | CA478866589 | SLCO1B1 | c.315A>G (p.Gly105=) c.426-2111A>G | |
| 12 | g.21174665A>T | CA478866591 | SLCO1B1 | c.315A>T (p.Gly105=) c.426-2111A>T | dbSNP |
| 12 | g.21174666A>C | CA384104250 | SLCO1B1 | c.316A>C (p.Ile106Leu) c.426-2110A>C | |
| 12 | g.21174666A>G | CA384104252 | SLCO1B1 | c.316A>G (p.Ile106Val) c.426-2110A>G | gnomAD v4 |
| 12 | g.21174666A>T | CA384104251 | SLCO1B1 | c.316A>T (p.Ile106Phe) c.426-2110A>T | |
| 12 | g.21174667T>A | CA384104253 | SLCO1B1 | c.317T>A (p.Ile106Asn) c.426-2109T>A | gnomAD v4 COSMIC |
| 12 | g.21174667T>C | CA6476645 | SLCO1B1 | c.317T>C (p.Ile106Thr) c.426-2109T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174667T>G | CA384104254 | SLCO1B1 | c.317T>G (p.Ile106Ser) c.426-2109T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174667T= | CA2020989645 | SLCO1B1 | c.317T= (p.Ile106=) c.426-2109T= | |
| 12 | g.21174668T>A | CA478866592 | SLCO1B1 | c.318T>A (p.Ile106=) c.426-2108T>A | |
| 12 | g.21174668T>C | CA478866593 | SLCO1B1 | c.318T>C (p.Ile106=) c.426-2108T>C | |
| 12 | g.21174668T>G | CA384104255 | SLCO1B1 | c.318T>G (p.Ile106Met) c.426-2108T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174668T= | CA2020989646 | SLCO1B1 | c.318T= (p.Ile106=) c.426-2108T= | |
| 12 | g.21174669G>A | CA384104256 | SLCO1B1 | c.319G>A (p.Gly107Arg) c.426-2107G>A | gnomAD v4 |
| 12 | g.21174669G>C | CA384104257 | SLCO1B1 | c.319G>C (p.Gly107Arg) c.426-2107G>C | |
| 12 | g.21174669G>T | CA384104258 | SLCO1B1 | c.319G>T (p.Gly107Ter) c.426-2107G>T | |
| 12 | g.21174670G>A | CA384104259 | SLCO1B1 | c.320G>A (p.Gly107Glu) c.426-2106G>A | gnomAD v4 |
| 12 | g.21174670G>C | CA384104260 | SLCO1B1 | c.320G>C (p.Gly107Ala) c.426-2106G>C | |
| 12 | g.21174670G>T | CA384104262 | SLCO1B1 | c.320G>T (p.Gly107Val) c.426-2106G>T | gnomAD v4 |
| 12 | g.21174671A>C | CA478866599 | SLCO1B1 | c.321A>C (p.Gly107=) c.426-2105A>C | |
| 12 | g.21174671A>G | CA478866600 | SLCO1B1 | c.321A>G (p.Gly107=) c.426-2105A>G | |
| 12 | g.21174671A>T | CA478866601 | SLCO1B1 | c.321A>T (p.Gly107=) c.426-2105A>T | |
| 12 | g.21174672G>A | CA384104263 | SLCO1B1 | c.322G>A (p.Gly108Ser) c.426-2104G>A | |
| 12 | g.21174672G>C | CA384104265 | SLCO1B1 | c.322G>C (p.Gly108Arg) c.426-2104G>C | |
| 12 | g.21174672G>T | CA384104267 | SLCO1B1 | c.322G>T (p.Gly108Cys) c.426-2104G>T | |
| 12 | g.21174673G>A | CA384104272 | SLCO1B1 | c.323G>A (p.Gly108Asp) c.426-2103G>A | dbSNP gnomAD v4 |
| 12 | g.21174673G>C | CA384104269 | SLCO1B1 | c.323G>C (p.Gly108Ala) c.426-2103G>C | |
| 12 | g.21174673G= | CA2020989647 | SLCO1B1 | c.323G= (p.Gly108=) c.426-2103G= | |
| 12 | g.21174673G>T | CA384104270 | SLCO1B1 | c.323G>T (p.Gly108Val) c.426-2103G>T | |
| 12 | g.21174674T>A | CA478866603 | SLCO1B1 | c.324T>A (p.Gly108=) c.426-2102T>A | |
| 12 | g.21174674T>C | CA478866604 | SLCO1B1 | c.324T>C (p.Gly108=) c.426-2102T>C | |
| 12 | g.21174674T>G | CA478866605 | SLCO1B1 | c.324T>G (p.Gly108=) c.426-2102T>G | |
| 12 | g.21174675G>A | CA384104275 | SLCO1B1 | c.325G>A (p.Val109Ile) c.426-2101G>A | |
| 12 | g.21174675G>C | CA384104276 | SLCO1B1 | c.325G>C (p.Val109Leu) c.426-2101G>C | |
| 12 | g.21174675G>T | CA384104278 | SLCO1B1 | c.325G>T (p.Val109Phe) c.426-2101G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174676T>A | CA384104281 | SLCO1B1 | c.326T>A (p.Val109Asp) c.426-2100T>A | gnomAD v4 |
| 12 | g.21174676T>C | CA384104282 | SLCO1B1 | c.326T>C (p.Val109Ala) c.426-2100T>C | |
| 12 | g.21174676T>G | CA384104284 | SLCO1B1 | c.326T>G (p.Val109Gly) c.426-2100T>G | |
| 12 | g.21174677T>A | CA478866608 | SLCO1B1 | c.327T>A (p.Val109=) c.426-2099T>A | |
| 12 | g.21174677T>C | CA478866609 | SLCO1B1 | c.327T>C (p.Val109=) c.426-2099T>C | |
| 12 | g.21174677T>G | CA6476646 | SLCO1B1 | c.327T>G (p.Val109=) c.426-2099T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174677T= | CA2020989648 | SLCO1B1 | c.327T= (p.Val109=) c.426-2099T= | |
| 12 | g.21174678T>A | CA384104287 | SLCO1B1 | c.328T>A (p.Leu110Met) c.426-2098T>A | |
| 12 | g.21174678T>C | CA478866611 | SLCO1B1 | c.328T>C (p.Leu110=) c.426-2098T>C | gnomAD v4 |
| 12 | g.21174678T>G | CA384104289 | SLCO1B1 | c.328T>G (p.Leu110Val) c.426-2098T>G | |
| 12 | g.21174679T>A | CA384104290 | SLCO1B1 | c.329T>A (p.Leu110Ter) c.426-2097T>A | |
| 12 | g.21174679T>C | CA384104292 | SLCO1B1 | c.329T>C (p.Leu110Ser) c.426-2097T>C | |
| 12 | g.21174679T>G | CA384104294 | SLCO1B1 | c.329T>G (p.Leu110Trp) c.426-2097T>G | |
| 12 | g.21174680G>A | CA478866612 | SLCO1B1 | c.330G>A (p.Leu110=) c.426-2096G>A | |
| 12 | g.21174680G>C | CA384104298 | SLCO1B1 | c.330G>C (p.Leu110Phe) c.426-2096G>C | dbSNP |
| 12 | g.21174680G= | CA2020989649 | SLCO1B1 | c.330G= (p.Leu110=) c.426-2096G= | |
| 12 | g.21174680G>T | CA384104296 | SLCO1B1 | c.330G>T (p.Leu110Phe) c.426-2096G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174681A= | CA2020989650 | SLCO1B1 | c.331A= (p.Thr111=) c.426-2095A= | |
| 12 | g.21174681A>C | CA6476647 | SLCO1B1 | c.331A>C (p.Thr111Pro) c.426-2095A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174681A>G | CA384104303 | SLCO1B1 | c.331A>G (p.Thr111Ala) c.426-2095A>G | |
| 12 | g.21174681A>T | CA384104301 | SLCO1B1 | c.331A>T (p.Thr111Ser) c.426-2095A>T | |
| 12 | g.21174682C>A | CA384104305 | SLCO1B1 | c.332C>A (p.Thr111Asn) c.426-2094C>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174682C>G | CA384104308 | SLCO1B1 | c.332C>G (p.Thr111Ser) c.426-2094C>G | |
| 12 | g.21174682C>T | CA384104306 | SLCO1B1 | c.332C>T (p.Thr111Ile) c.426-2094C>T | |
| 12 | g.21174683T>A | CA478866626 | SLCO1B1 | c.333T>A (p.Thr111=) c.426-2093T>A | |
| 12 | g.21174683T>C | CA478866624 | SLCO1B1 | c.333T>C (p.Thr111=) c.426-2093T>C | |
| 12 | g.21174683T>G | CA478866621 | SLCO1B1 | c.333T>G (p.Thr111=) c.426-2093T>G | |
| 12 | g.21174684G>A | CA6476648 | SLCO1B1 | c.334G>A (p.Ala112Thr) c.426-2092G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174684G>C | CA384104314 | SLCO1B1 | c.334G>C (p.Ala112Pro) c.426-2092G>C | |
| 12 | g.21174684G= | CA2020989651 | SLCO1B1 | c.334G= (p.Ala112=) c.426-2092G= | |
| 12 | g.21174684G>T | CA384104311 | SLCO1B1 | c.334G>T (p.Ala112Ser) c.426-2092G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174685C>A | CA384104316 | SLCO1B1 | c.335C>A (p.Ala112Asp) c.426-2091C>A | |
| 12 | g.21174685C= | CA2020989652 | SLCO1B1 | c.335C= (p.Ala112=) c.426-2091C= | |
| 12 | g.21174685C>G | CA384104320 | SLCO1B1 | c.335C>G (p.Ala112Gly) c.426-2091C>G | |
| 12 | g.21174685C>T | CA384104318 | SLCO1B1 | c.335C>T (p.Ala112Val) c.426-2091C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174686T>A | CA478866632 | SLCO1B1 | c.336T>A (p.Ala112=) c.426-2090T>A | |
| 12 | g.21174686T>C | CA478866630 | SLCO1B1 | c.336T>C (p.Ala112=) c.426-2090T>C | gnomAD v4 |
| 12 | g.21174686T>G | CA478866627 | SLCO1B1 | c.336T>G (p.Ala112=) c.426-2090T>G | |
| 12 | g.21174687T>A | CA384104322 | SLCO1B1 | c.337T>A (p.Leu113Met) c.426-2089T>A | |
| 12 | g.21174687T>C | CA478866635 | SLCO1B1 | c.337T>C (p.Leu113=) c.426-2089T>C | |
| 12 | g.21174687T>G | CA384104323 | SLCO1B1 | c.337T>G (p.Leu113Val) c.426-2089T>G | gnomAD v4 |
| 12 | g.21174688T>A | CA384104325 | SLCO1B1 | c.338T>A (p.Leu113Ter) c.426-2088T>A | |
| 12 | g.21174688T>C | CA384104326 | SLCO1B1 | c.338T>C (p.Leu113Ser) c.426-2088T>C | |
| 12 | g.21174688T>G | CA384104328 | SLCO1B1 | c.338T>G (p.Leu113Trp) c.426-2088T>G | |
| 12 | g.21174689G>A | CA478866636 | SLCO1B1 | c.339G>A (p.Leu113=) c.426-2087G>A | |
| 12 | g.21174689G>C | CA384104330 | SLCO1B1 | c.339G>C (p.Leu113Phe) c.426-2087G>C | |
| 12 | g.21174689G>T | CA384104332 | SLCO1B1 | c.339G>T (p.Leu113Phe) c.426-2087G>T | gnomAD v4 |
| 12 | g.21174690C>A | CA384104334 | SLCO1B1 | c.340C>A (p.Pro114Thr) c.426-2086C>A | |
| 12 | g.21174690C>G | CA384104336 | SLCO1B1 | c.340C>G (p.Pro114Ala) c.426-2086C>G | |
| 12 | g.21174690C>T | CA384104337 | SLCO1B1 | c.340C>T (p.Pro114Ser) c.426-2086C>T | |
| 12 | g.21174691C>A | CA384104339 | SLCO1B1 | c.341C>A (p.Pro114Gln) c.426-2085C>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174691C= | CA2020989653 | SLCO1B1 | c.341C= (p.Pro114=) c.426-2085C= | |
| 12 | g.21174691C>G | CA384104341 | SLCO1B1 | c.341C>G (p.Pro114Arg) c.426-2085C>G | |
| 12 | g.21174691C>T | CA384104343 | SLCO1B1 | c.341C>T (p.Pro114Leu) c.426-2085C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174692A= | CA2020989654 | SLCO1B1 | c.342A= (p.Pro114=) c.426-2084A= | |
| 12 | g.21174692A>C | CA478866641 | SLCO1B1 | c.342A>C (p.Pro114=) c.426-2084A>C | dbSNP |
| 12 | g.21174692A>G | CA478866644 | SLCO1B1 | c.342A>G (p.Pro114=) c.426-2084A>G | |
| 12 | g.21174692A>T | CA478866646 | SLCO1B1 | c.342A>T (p.Pro114=) c.426-2084A>T | |
| 12 | g.21174693C>A | CA384104345 | SLCO1B1 | c.343C>A (p.His115Asn) c.426-2083C>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174693C>G | CA384104348 | SLCO1B1 | c.343C>G (p.His115Asp) c.426-2083C>G | |
| 12 | g.21174693C>T | CA384104347 | SLCO1B1 | c.343C>T (p.His115Tyr) c.426-2083C>T | |
| 12 | g.21174694A>C | CA384104350 | SLCO1B1 | c.344A>C (p.His115Pro) c.426-2082A>C | |
| 12 | g.21174694A>G | CA384104352 | SLCO1B1 | c.344A>G (p.His115Arg) c.426-2082A>G | |
| 12 | g.21174694A>T | CA384104354 | SLCO1B1 | c.344A>T (p.His115Leu) c.426-2082A>T | |
| 12 | g.21174695T>A | CA384104356 | SLCO1B1 | c.345T>A (p.His115Gln) c.426-2081T>A | gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174695T>C | CA478866651 | SLCO1B1 | c.345T>C (p.His115=) c.426-2081T>C | |
| 12 | g.21174695T>G | CA384104357 | SLCO1B1 | c.345T>G (p.His115Gln) c.426-2081T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174695T= | CA2020989655 | SLCO1B1 | c.345T= (p.His115=) c.426-2081T= | |
| 12 | g.21174696T>A | CA384104359 | SLCO1B1 | c.346T>A (p.Phe116Ile) c.426-2080T>A | gnomAD v4 |
| 12 | g.21174696T>C | CA384104361 | SLCO1B1 | c.346T>C (p.Phe116Leu) c.426-2080T>C | |
| 12 | g.21174696T>G | CA384104362 | SLCO1B1 | c.346T>G (p.Phe116Val) c.426-2080T>G | |
| 12 | g.21174697T>A | CA384104364 | SLCO1B1 | c.347T>A (p.Phe116Tyr) c.426-2079T>A | |
| 12 | g.21174697T>C | CA384104365 | SLCO1B1 | c.347T>C (p.Phe116Ser) c.426-2079T>C | |
| 12 | g.21174697T>G | CA384104367 | SLCO1B1 | c.347T>G (p.Phe116Cys) c.426-2079T>G | |
| 12 | g.21174698C>A | CA384104372 | SLCO1B1 | c.348C>A (p.Phe116Leu) c.426-2078C>A | ClinVar gnomAD v4 |
| 12 | g.21174698C>G | CA384104369 | SLCO1B1 | c.348C>G (p.Phe116Leu) c.426-2078C>G | |
| 12 | g.21174698C>T | CA478866658 | SLCO1B1 | c.348C>T (p.Phe116=) c.426-2078C>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174699T>A | CA384104375 | SLCO1B1 | c.349T>A (p.Phe117Ile) c.426-2077T>A | |
| 12 | g.21174699T>C | CA384104376 | SLCO1B1 | c.349T>C (p.Phe117Leu) c.426-2077T>C | |
| 12 | g.21174699T>G | CA384104378 | SLCO1B1 | c.349T>G (p.Phe117Val) c.426-2077T>G | dbSNP |
| 12 | g.21174700T>A | CA384104381 | SLCO1B1 | c.350T>A (p.Phe117Tyr) c.426-2076T>A | |
| 12 | g.21174700T>C | CA384104383 | SLCO1B1 | c.350T>C (p.Phe117Ser) c.426-2076T>C | gnomAD v4 |
| 12 | g.21174700T>G | CA384104385 | SLCO1B1 | c.350T>G (p.Phe117Cys) c.426-2076T>G | |
| 12 | g.21174701C>A | CA384104388 | SLCO1B1 | c.351C>A (p.Phe117Leu) c.426-2075C>A | gnomAD v4 |
| 12 | g.21174701C= | CA2020989656 | SLCO1B1 | c.351C= (p.Phe117=) c.426-2075C= | |
| 12 | g.21174701C>G | CA384104386 | SLCO1B1 | c.351C>G (p.Phe117Leu) c.426-2075C>G | |
| 12 | g.21174701C>T | CA478866663 | SLCO1B1 | c.351C>T (p.Phe117=) c.426-2075C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174702A>C | CA384104390 | SLCO1B1 | c.352A>C (p.Met118Leu) c.426-2074A>C | |
| 12 | g.21174702A>G | CA384104392 | SLCO1B1 | c.352A>G (p.Met118Val) c.426-2074A>G | |
| 12 | g.21174702A>T | CA384104399 | SLCO1B1 | c.352A>T (p.Met118Leu) c.426-2074A>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174703T>A | CA384104402 | SLCO1B1 | c.353T>A (p.Met118Lys) c.426-2073T>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174703T>C | CA384104404 | SLCO1B1 | c.353T>C (p.Met118Thr) c.426-2073T>C | gnomAD v4 COSMIC |
| 12 | g.21174703T>G | CA384104406 | SLCO1B1 | c.353T>G (p.Met118Arg) c.426-2073T>G | |
| 12 | g.21174704G>A | CA384104411 | SLCO1B1 | c.354G>A (p.Met118Ile) c.426-2072G>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174704G>C | CA384104409 | SLCO1B1 | c.354G>C (p.Met118Ile) c.426-2072G>C | |
| 12 | g.21174704G>T | CA384104410 | SLCO1B1 | c.354G>T (p.Met118Ile) c.426-2072G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174705G>A | CA384104414 | SLCO1B1 | c.355G>A (p.Gly119Arg) c.426-2071G>A | gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21174705G>C | CA384104419 | SLCO1B1 | c.355G>C (p.Gly119Arg) c.426-2071G>C | |
| 12 | g.21174705G>T | CA384104421 | SLCO1B1 | c.355G>T (p.Gly119Ter) c.426-2071G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174706G>A | CA384104424 | SLCO1B1 | c.356G>A (p.Gly119Glu) c.426-2070G>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174706G>C | CA384104426 | SLCO1B1 | c.356G>C (p.Gly119Ala) c.426-2070G>C | |
| 12 | g.21174706G>T | CA384104428 | SLCO1B1 | c.356G>T (p.Gly119Val) c.426-2070G>T | gnomAD v4 |
| 12 | g.21174707A>C | CA478866674 | SLCO1B1 | c.357A>C (p.Gly119=) c.426-2069A>C | |
| 12 | g.21174707A>G | CA478866676 | SLCO1B1 | c.357A>G (p.Gly119=) c.426-2069A>G | |
| 12 | g.21174707A>T | CA478866675 | SLCO1B1 | c.357A>T (p.Gly119=) c.426-2069A>T | gnomAD v4 |
| 12 | g.21174707_21174708insAAAAAA | CA945496228 | SLCO1B1 | c.357_358insAAAAAA (p.Gly119_Tyr120insLysLys) c.426-2069_426-2068insAAAAAA | gnomAD v3 gnomAD v4 |
| 12 | g.21174708T>A | CA384104430 | SLCO1B1 | c.358T>A (p.Tyr120Asn) c.426-2068T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174708T>C | CA384104431 | SLCO1B1 | c.358T>C (p.Tyr120His) c.426-2068T>C | gnomAD v4 |
| 12 | g.21174708T>G | CA384104432 | SLCO1B1 | c.358T>G (p.Tyr120Asp) c.426-2068T>G | |
| 12 | g.21174708T= | CA2020989657 | SLCO1B1 | c.358T= (p.Tyr120=) c.426-2068T= | |
| 12 | g.21174709A>C | CA384104435 | SLCO1B1 | c.359A>C (p.Tyr120Ser) c.426-2067A>C | |
| 12 | g.21174709A>G | CA384104437 | SLCO1B1 | c.359A>G (p.Tyr120Cys) c.426-2067A>G | gnomAD v4 |
| 12 | g.21174709A>T | CA384104438 | SLCO1B1 | c.359A>T (p.Tyr120Phe) c.426-2067A>T | gnomAD v4 |
| 12 | g.21174712_21174715del | CA2575096333 | SLCO1B1 | c.359+3_359+6del c.426-2064_426-2061del | gnomAD v4 |
| 12 | g.21174710G>A | CA384104440 | SLCO1B1 | c.359+1G>A (n.359+1G>A) c.426-2066G>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174710G>C | CA6476649 | SLCO1B1 | c.359+1G>C (n.359+1G>C) c.426-2066G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21174710G= | CA2020989658 | SLCO1B1 | c.359+1G= (n.359+1G=) c.426-2066G= | |
| 12 | g.21174710G>T | CA384104442 | SLCO1B1 | c.359+1G>T (n.359+1G>T) c.426-2066G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174710_21174711del | CA945496234 | SLCO1B1 | c.359+1_359+2del (n.359+1_359+2del) c.426-2066_426-2065del | gnomAD v3 gnomAD v4 |
| 12 | g.21174711T>A | CA233559748 | SLCO1B1 | c.359+2T>A (n.359+2T>A) c.426-2065T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174711T>C | CA384104447 | SLCO1B1 | c.359+2T>C (n.359+2T>C) c.426-2065T>C | |
| 12 | g.21174711T>G | CA384104446 | SLCO1B1 | c.359+2T>G (n.359+2T>G) c.426-2065T>G | |
| 12 | g.21174711T= | CA2020989659 | SLCO1B1 | c.359+2T= (n.359+2T=) c.426-2065T= | |
| 12 | g.21174712A= | CA2020989660 | SLCO1B1 | c.359+3A= (n.359+3A=) c.426-2064A= | |
| 12 | g.21174712A>C | CA6476650 | SLCO1B1 | c.359+3A>C (n.359+3A>C) c.426-2064A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174713A>G | CA2617895367 | SLCO1B1 | c.359+4A>G (n.359+4A>G) c.426-2063A>G | gnomAD v4 |
| 12 | g.21174713_21174737delinsAGTGTTAAAAAAAAAAAAAACCTCT | CA2020989661 | SLCO1B1 | c.359+4_359+28delinsAGTGTTAAAAAAAAAAAAAACCTCT (n.359+4_359+28delinsAGTGTTAAAAAAAAAAAAAACCTCT) c.426-2063_426-2039delinsAGTGTTAAAAAAAAAAAAAACCTCT | |
| 12 | g.21174714G>A | CA945496250 | SLCO1B1 | c.359+5G>A (n.359+5G>A) c.426-2062G>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174714G>C | CA2794800638 | SLCO1B1 | c.359+5G>C (n.359+5G>C) c.426-2062G>C | |
| 12 | g.21174714G>T | CA2617895375 | SLCO1B1 | c.359+5G>T (n.359+5G>T) c.426-2062G>T | gnomAD v4 |
| 12 | g.21174714_21174718del | CA603657590 | SLCO1B1 | c.359+5_359+9del (n.359+5_359+9del) c.426-2062_426-2058del | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174717_21174740del | CA603657589 | SLCO1B1 | c.359+8_359+31del (n.359+8_359+31del) c.426-2059_426-2036del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21174715T>A | CA945496256 | SLCO1B1 | c.359+6T>A (n.359+6T>A) c.426-2061T>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174715T>C | CA945496257 | SLCO1B1 | c.359+6T>C (n.359+6T>C) c.426-2061T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174715T>G | CA2617895383 | SLCO1B1 | c.359+6T>G (n.359+6T>G) c.426-2061T>G | gnomAD v4 |
| 12 | g.21174715T= | CA2020989662 | SLCO1B1 | c.359+6T= (n.359+6T=) c.426-2061T= | |
| 12 | g.21174715_21174718del | CA2617895381 | SLCO1B1 | c.359+6_359+9del (n.359+6_359+9del) c.426-2061_426-2058del | gnomAD v4 |
| 12 | g.21174716_21174718del | CA2617895379 | SLCO1B1 | c.359+7_359+9del (n.359+7_359+9del) c.426-2060_426-2058del | gnomAD v4 |
| 12 | g.21174716del | CA2617895386 | SLCO1B1 | c.359+7del (n.359+7del) c.426-2060del | gnomAD v4 |
| 12 | g.21174716G>A | CA603657591 | SLCO1B1 | c.359+7G>A (n.359+7G>A) c.426-2060G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174716G= | CA2020989664 | SLCO1B1 | c.359+7G= (n.359+7G=) c.426-2060G= | |
| 12 | g.21174716G>T | CA945496260 | SLCO1B1 | c.359+7G>T (n.359+7G>T) c.426-2060G>T | gnomAD v3 gnomAD v4 |
| 12 | g.21174716_21174720delinsGTTAA | CA2020989663 | SLCO1B1 | c.359+7_359+11delinsGTTAA (n.359+7_359+11delinsGTTAA) c.426-2060_426-2056delinsGTTAA | |
| 12 | g.21174716_21174717insA | CA603657592 | SLCO1B1 | c.359+7_359+8insA (n.359+7_359+8insA) c.426-2060_426-2059insA | gnomAD v2 |
| 12 | g.21174717T>A | CA945496265 | SLCO1B1 | c.359+8T>A (n.359+8T>A) c.426-2059T>A | gnomAD v3 gnomAD v4 |
| 12 | g.21174717T>G | CA2617895400 | SLCO1B1 | c.359+8T>G (n.359+8T>G) c.426-2059T>G | gnomAD v4 |
| 12 | g.21174717T= | CA2020989666 | SLCO1B1 | c.359+8T= (n.359+8T=) c.426-2059T= | |
| 12 | g.21174718dup | CA2617895401 | SLCO1B1 | c.359+9dup (n.359+9dup) c.426-2058dup | gnomAD v4 |
| 12 | g.21174717_21174720del | CA2020989665 | SLCO1B1 | c.359+8_359+11del (n.359+8_359+11del) c.426-2059_426-2056del | dbSNP gnomAD v4 |
| 12 | g.21174717_21174718insA | CA945496267 | SLCO1B1 | c.359+8_359+9insA (n.359+8_359+9insA) c.426-2059_426-2058insA | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174717_21174718insAA | CA945496268 | SLCO1B1 | c.359+8_359+9insAA (n.359+8_359+9insAA) c.426-2059_426-2058insAA | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174717_21174718insCA | CA2575096334 | SLCO1B1 | c.359+8_359+9insCA (n.359+8_359+9insCA) c.426-2059_426-2058insCA | gnomAD v4 |
| 12 | g.21174718T>A | CA686353272 | SLCO1B1 | c.359+9T>A (n.359+9T>A) c.426-2058T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174718T= | CA2020989668 | SLCO1B1 | c.359+9T= (n.359+9T=) c.426-2058T= | |
| 12 | g.21174718_21174720delinsTAA | CA2020989667 | SLCO1B1 | c.359+9_359+11delinsTAA (n.359+9_359+11delinsTAA) c.426-2058_426-2056delinsTAA | |
| 12 | g.21174718_21174719insG | CA2617895468 | SLCO1B1 | c.359+9_359+10insG (n.359+9_359+10insG) c.426-2058_426-2057insG | gnomAD v4 |
| 12 | g.21174718_21174719insTA | CA2617895431 | SLCO1B1 | c.359+9_359+10insTA (n.359+9_359+10insTA) c.426-2058_426-2057insTA | gnomAD v4 |
| 12 | g.21174718_21174719insTAA | CA945496283 | SLCO1B1 | c.359+9_359+10insTAA (n.359+9_359+10insTAA) c.426-2058_426-2057insTAA | gnomAD v3 gnomAD v4 |
| 12 | g.21174718_21174719insGAAA | CA2617895494 | SLCO1B1 | c.359+9_359+10insGAAA (n.359+9_359+10insGAAA) c.426-2058_426-2057insGAAA | gnomAD v4 |
| 12 | g.21174718_21174719insTAAA | CA2617895432 | SLCO1B1 | c.359+9_359+10insTAAA (n.359+9_359+10insTAAA) c.426-2058_426-2057insTAAA | gnomAD v4 |
| 12 | g.21174719A>T | CA2617895460 | SLCO1B1 | c.359+10A>T (n.359+10A>T) c.426-2057A>T | gnomAD v4 |
| 12 | g.21174732_21174733insAAAAAAAAAAAAAAAAAAAA | CA2794800643 | SLCO1B1 | c.359+23_359+24insAAAAAAAAAAAAAAAAAAAA (n.359+23_359+24insAAAAAAAAAAAAAAAAAAAA) c.426-2044_426-2043insAAAAAAAAAAAAAAAAAAAA | |
| 12 | g.21174732dup | CA6476651 | SLCO1B1 | c.359+23dup (n.359+23dup) c.426-2044dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174731_21174732dup | CA6476652 | SLCO1B1 | c.359+22_359+23dup (n.359+22_359+23dup) c.426-2045_426-2044dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174730_21174732dup | CA6476655 | SLCO1B1 | c.359+21_359+23dup (n.359+21_359+23dup) c.426-2046_426-2044dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174729_21174732dup | CA6476656 | SLCO1B1 | c.359+20_359+23dup (n.359+20_359+23dup) c.426-2047_426-2044dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174728_21174732dup | CA945496289 | SLCO1B1 | c.359+19_359+23dup (n.359+19_359+23dup) c.426-2048_426-2044dup | gnomAD v3 gnomAD v4 |
| 12 | g.21174727_21174732dup | CA2617895484 | SLCO1B1 | c.359+18_359+23dup (n.359+18_359+23dup) c.426-2049_426-2044dup | gnomAD v4 |
| 12 | g.21174726_21174732dup | CA945496290 | SLCO1B1 | c.359+17_359+23dup (n.359+17_359+23dup) c.426-2050_426-2044dup | gnomAD v3 gnomAD v4 |
| 12 | g.21174725_21174732dup | CA945496286 | SLCO1B1 | c.359+16_359+23dup (n.359+16_359+23dup) c.426-2051_426-2044dup | gnomAD v3 gnomAD v4 |
| 12 | g.21174724_21174732dup | CA2794800646 | SLCO1B1 | c.359+15_359+23dup (n.359+15_359+23dup) c.426-2052_426-2044dup | |
| 12 | g.21174721_21174732dup | CA945496277 | SLCO1B1 | c.359+12_359+23dup (n.359+12_359+23dup) c.426-2055_426-2044dup | dbSNP |
| 12 | g.21174732del | CA6476653 | SLCO1B1 | c.359+23del (n.359+23del) c.426-2044del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174731_21174732del | CA6476654 | SLCO1B1 | c.359+22_359+23del (n.359+22_359+23del) c.426-2045_426-2044del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174730_21174732del | CA945496279 | SLCO1B1 | c.359+21_359+23del (n.359+21_359+23del) c.426-2046_426-2044del | gnomAD v3 gnomAD v4 |
| 12 | g.21174729_21174732del | CA2617895456 | SLCO1B1 | c.359+20_359+23del (n.359+20_359+23del) c.426-2047_426-2044del | gnomAD v4 |
| 12 | g.21174728_21174732del | CA2617895458 | SLCO1B1 | c.359+19_359+23del (n.359+19_359+23del) c.426-2048_426-2044del | gnomAD v4 |
| 12 | g.21174719_21174720insG | CA2794800649 | SLCO1B1 | c.359+10_359+11insG (n.359+10_359+11insG) c.426-2057_426-2056insG | |
| 12 | g.21174720A= | CA2020989669 | SLCO1B1 | c.359+11A= (n.359+11A=) c.426-2056A= | |
| 12 | g.21174720A>T | CA945496303 | SLCO1B1 | c.359+11A>T (n.359+11A>T) c.426-2056A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21174721_21174722insTAA | CA2741236522 | SLCO1B1 | c.359+12_359+13insTAA (n.359+12_359+13insTAA) c.426-2055_426-2054insTAA | |
| 12 | g.21174721_21174722insGCAGTCAA | CA2794800648 | SLCO1B1 | c.359+12_359+13insGCAGTCAA (n.359+12_359+13insGCAGTCAA) c.426-2055_426-2054insGCAGTCAA | |
| 12 | g.21174720_21174721insG | CA6476657 | SLCO1B1 | c.359+11_359+12insG (n.359+11_359+12insG) c.426-2056_426-2055insG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174721A>T | CA2741236523 | SLCO1B1 | c.359+12A>T (n.359+12A>T) c.426-2055A>T | |
| 12 | g.21174722A= | CA2020989670 | SLCO1B1 | c.359+13A= (n.359+13A=) c.426-2054A= | |
| 12 | g.21174722A>G | CA6476658 | SLCO1B1 | c.359+13A>G (n.359+13A>G) c.426-2054A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21174723A>G | CA2617895500 | SLCO1B1 | c.359+14A>G (n.359+14A>G) c.426-2053A>G | gnomAD v4 |
| 12 | g.21174723A>T | CA2575096342 | SLCO1B1 | c.359+14A>T (n.359+14A>T) c.426-2053A>T | gnomAD v4 |