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 |
|---|---|---|---|---|---|
| 11 | g.62996050del | CA2614035274 | SLC22A8 | c.866del (p.Gly289GlufsTer?) c.497del (p.Gly166GlufsTer?) n.684del c.593del (p.Gly198GlufsTer?) | gnomAD v4 |
| 11 | g.62996049C>A | CA380982523 | SLC22A8 | c.865G>T (p.Gly289Ter) c.496G>T (p.Gly166Ter) n.683G>T c.592G>T (p.Gly198Ter) | |
| 11 | g.62996049C= | CA1978013194 | SLC22A8 | c.865G= (p.Gly289=) c.496G= (p.Gly166=) n.683G= c.592G= (p.Gly198=) | |
| 11 | g.62996049C>G | CA380982527 | SLC22A8 | c.865G>C (p.Gly289Arg) c.496G>C (p.Gly166Arg) n.683G>C c.592G>C (p.Gly198Arg) | |
| 11 | g.62996049C>T | CA380982526 | SLC22A8 | c.865G>A (p.Gly289Arg) c.496G>A (p.Gly166Arg) n.683G>A c.592G>A (p.Gly198Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.62996050C>A | CA380982528 | SLC22A8 | c.864G>T (p.Glu288Asp) c.495G>T (p.Glu165Asp) n.682G>T c.591G>T (p.Glu197Asp) | |
| 11 | g.62996050C>G | CA380982529 | SLC22A8 | c.864G>C (p.Glu288Asp) c.495G>C (p.Glu165Asp) n.682G>C c.591G>C (p.Glu197Asp) | |
| 11 | g.62996050C>T | CA475140798 | SLC22A8 | c.864G>A (p.Glu288=) c.495G>A (p.Glu165=) n.682G>A c.591G>A (p.Glu197=) | |
| 11 | g.62996051T>A | CA380982531 | SLC22A8 | c.863A>T (p.Glu288Val) c.494A>T (p.Glu165Val) n.681A>T c.590A>T (p.Glu197Val) | |
| 11 | g.62996051T>C | CA380982533 | SLC22A8 | c.863A>G (p.Glu288Gly) c.494A>G (p.Glu165Gly) n.681A>G c.590A>G (p.Glu197Gly) | |
| 11 | g.62996051T>G | CA380982534 | SLC22A8 | c.863A>C (p.Glu288Ala) c.494A>C (p.Glu165Ala) n.681A>C c.590A>C (p.Glu197Ala) | |
| 11 | g.62996053_62996055del | CA2614035275 | SLC22A8 | c.861_863del (p.Glu288del) c.492_494del (p.Glu165del) n.679_681del c.588_590del (p.Glu197del) | gnomAD v4 |
| 11 | g.62996052C>A | CA380982536 | SLC22A8 | c.862G>T (p.Glu288Ter) c.493G>T (p.Glu165Ter) n.680G>T c.589G>T (p.Glu197Ter) | |
| 11 | g.62996052C>G | CA380982537 | SLC22A8 | c.862G>C (p.Glu288Gln) c.493G>C (p.Glu165Gln) n.680G>C c.589G>C (p.Glu197Gln) | |
| 11 | g.62996052C>T | CA380982539 | SLC22A8 | c.862G>A (p.Glu288Lys) c.493G>A (p.Glu165Lys) n.680G>A c.589G>A (p.Glu197Lys) | |
| 11 | g.62996053T>A | CA380982541 | SLC22A8 | c.861A>T (p.Glu287Asp) c.492A>T (p.Glu164Asp) n.679A>T c.588A>T (p.Glu196Asp) | |
| 11 | g.62996053T>C | CA475140799 | SLC22A8 | c.861A>G (p.Glu287=) c.492A>G (p.Glu164=) n.679A>G c.588A>G (p.Glu196=) | |
| 11 | g.62996053T>G | CA380982543 | SLC22A8 | c.861A>C (p.Glu287Asp) c.492A>C (p.Glu164Asp) n.679A>C c.588A>C (p.Glu196Asp) | |
| 11 | g.62996054T>A | CA380982545 | SLC22A8 | c.860A>T (p.Glu287Val) c.491A>T (p.Glu164Val) n.678A>T c.587A>T (p.Glu196Val) | |
| 11 | g.62996054T>C | CA380982546 | SLC22A8 | c.860A>G (p.Glu287Gly) c.491A>G (p.Glu164Gly) n.678A>G c.587A>G (p.Glu196Gly) | |
| 11 | g.62996054T>G | CA380982548 | SLC22A8 | c.860A>C (p.Glu287Ala) c.491A>C (p.Glu164Ala) n.678A>C c.587A>C (p.Glu196Ala) | |
| 11 | g.62996055C>A | CA380982554 | SLC22A8 | c.859G>T (p.Glu287Ter) c.490G>T (p.Glu164Ter) n.677G>T c.586G>T (p.Glu196Ter) | |
| 11 | g.62996055C= | CA1978013196 | SLC22A8 | c.859G= (p.Glu287=) c.490G= (p.Glu164=) n.677G= c.586G= (p.Glu196=) | |
| 11 | g.62996055C>G | CA380982550 | SLC22A8 | c.859G>C (p.Glu287Gln) c.490G>C (p.Glu164Gln) n.677G>C c.586G>C (p.Glu196Gln) | |
| 11 | g.62996055C>T | CA380982551 | SLC22A8 | c.859G>A (p.Glu287Lys) c.490G>A (p.Glu164Lys) n.677G>A c.586G>A (p.Glu196Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62996056C>A | CA380982555 | SLC22A8 | c.858G>T (p.Lys286Asn) c.489G>T (p.Lys163Asn) n.676G>T c.585G>T (p.Lys195Asn) | |
| 11 | g.62996056C>G | CA380982557 | SLC22A8 | c.858G>C (p.Lys286Asn) c.489G>C (p.Lys163Asn) n.676G>C c.585G>C (p.Lys195Asn) | |
| 11 | g.62996056C>T | CA475140800 | SLC22A8 | c.858G>A (p.Lys286=) c.489G>A (p.Lys163=) n.676G>A c.585G>A (p.Lys195=) | |
| 11 | g.62996057T>A | CA380982559 | SLC22A8 | c.857A>T (p.Lys286Met) c.488A>T (p.Lys163Met) n.675A>T c.584A>T (p.Lys195Met) | |
| 11 | g.62996057T>C | CA380982560 | SLC22A8 | c.857A>G (p.Lys286Arg) c.488A>G (p.Lys163Arg) n.675A>G c.584A>G (p.Lys195Arg) | |
| 11 | g.62996057T>G | CA380982561 | SLC22A8 | c.857A>C (p.Lys286Thr) c.488A>C (p.Lys163Thr) n.675A>C c.584A>C (p.Lys195Thr) | |
| 11 | g.62996058T>A | CA380982562 | SLC22A8 | c.856A>T (p.Lys286Ter) c.487A>T (p.Lys163Ter) n.674A>T c.583A>T (p.Lys195Ter) | |
| 11 | g.62996058T>C | CA380982563 | SLC22A8 | c.856A>G (p.Lys286Glu) c.487A>G (p.Lys163Glu) n.674A>G c.583A>G (p.Lys195Glu) | |
| 11 | g.62996058T>G | CA380982565 | SLC22A8 | c.856A>C (p.Lys286Gln) c.487A>C (p.Lys163Gln) n.674A>C c.583A>C (p.Lys195Gln) | |
| 11 | g.62996059C>A | CA380982567 | SLC22A8 | c.855G>T (p.Lys285Asn) c.486G>T (p.Lys162Asn) n.673G>T c.582G>T (p.Lys194Asn) | |
| 11 | g.62996059C= | CA1978013198 | SLC22A8 | c.855G= (p.Lys285=) c.486G= (p.Lys162=) n.673G= c.582G= (p.Lys194=) | |
| 11 | g.62996059C>G | CA380982569 | SLC22A8 | c.855G>C (p.Lys285Asn) c.486G>C (p.Lys162Asn) n.673G>C c.582G>C (p.Lys194Asn) | |
| 11 | g.62996059C>T | CA6059818 | SLC22A8 | c.855G>A (p.Lys285=) c.486G>A (p.Lys162=) n.673G>A c.582G>A (p.Lys194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996060T>A | CA380982571 | SLC22A8 | c.854A>T (p.Lys285Met) c.485A>T (p.Lys162Met) n.672A>T c.581A>T (p.Lys194Met) | |
| 11 | g.62996060T>C | CA380982574 | SLC22A8 | c.854A>G (p.Lys285Arg) c.485A>G (p.Lys162Arg) n.672A>G c.581A>G (p.Lys194Arg) | |
| 11 | g.62996060T>G | CA380982572 | SLC22A8 | c.854A>C (p.Lys285Thr) c.485A>C (p.Lys162Thr) n.672A>C c.581A>C (p.Lys194Thr) | |
| 11 | g.62996061T>A | CA380982575 | SLC22A8 | c.853A>T (p.Lys285Ter) c.484A>T (p.Lys162Ter) n.671A>T c.580A>T (p.Lys194Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996061T>C | CA380982576 | SLC22A8 | c.853A>G (p.Lys285Glu) c.484A>G (p.Lys162Glu) n.671A>G c.580A>G (p.Lys194Glu) | |
| 11 | g.62996061T>G | CA380982578 | SLC22A8 | c.853A>C (p.Lys285Gln) c.484A>C (p.Lys162Gln) n.671A>C c.580A>C (p.Lys194Gln) | |
| 11 | g.62996061T= | CA1978013199 | SLC22A8 | c.853A= (p.Lys285=) c.484A= (p.Lys162=) n.671A= c.580A= (p.Lys194=) | |
| 11 | g.62996062G>A | CA6059819 | SLC22A8 | c.852C>T (p.Gly284=) c.483C>T (p.Gly161=) n.670C>T c.579C>T (p.Gly193=) | dbSNP ExAC |
| 11 | g.62996062G>C | CA475140804 | SLC22A8 | c.852C>G (p.Gly284=) c.483C>G (p.Gly161=) n.670C>G c.579C>G (p.Gly193=) | |
| 11 | g.62996062G= | CA1978013201 | SLC22A8 | c.852C= (p.Gly284=) c.483C= (p.Gly161=) n.670C= c.579C= (p.Gly193=) | |
| 11 | g.62996062G>T | CA475140802 | SLC22A8 | c.852C>A (p.Gly284=) c.483C>A (p.Gly161=) n.670C>A c.579C>A (p.Gly193=) | |
| 11 | g.62996063C>A | CA380982581 | SLC22A8 | c.851G>T (p.Gly284Val) c.482G>T (p.Gly161Val) n.669G>T c.578G>T (p.Gly193Val) | |
| 11 | g.62996063C>G | CA380982582 | SLC22A8 | c.851G>C (p.Gly284Ala) c.482G>C (p.Gly161Ala) n.669G>C c.578G>C (p.Gly193Ala) | |
| 11 | g.62996063C>T | CA380982584 | SLC22A8 | c.851G>A (p.Gly284Asp) c.482G>A (p.Gly161Asp) n.669G>A c.578G>A (p.Gly193Asp) | |
| 11 | g.62996064C>A | CA380982590 | SLC22A8 | c.850G>T (p.Gly284Cys) c.481G>T (p.Gly161Cys) n.668G>T c.577G>T (p.Gly193Cys) | |
| 11 | g.62996064C>G | CA380982586 | SLC22A8 | c.850G>C (p.Gly284Arg) c.481G>C (p.Gly161Arg) n.668G>C c.577G>C (p.Gly193Arg) | |
| 11 | g.62996064C>T | CA380982588 | SLC22A8 | c.850G>A (p.Gly284Ser) c.481G>A (p.Gly161Ser) n.668G>A c.577G>A (p.Gly193Ser) | gnomAD v4 |
| 11 | g.62996065A= | CA1978013203 | SLC22A8 | c.849T= (p.Asn283=) c.480T= (p.Asn160=) n.667T= c.576T= (p.Asn192=) | |
| 11 | g.62996065A>C | CA380982592 | SLC22A8 | c.849T>G (p.Asn283Lys) c.480T>G (p.Asn160Lys) n.667T>G c.576T>G (p.Asn192Lys) | |
| 11 | g.62996065A>G | CA475140807 | SLC22A8 | c.849T>C (p.Asn283=) c.480T>C (p.Asn160=) n.667T>C c.576T>C (p.Asn192=) | dbSNP gnomAD v2 |
| 11 | g.62996065A>T | CA380982593 | SLC22A8 | c.849T>A (p.Asn283Lys) c.480T>A (p.Asn160Lys) n.667T>A c.576T>A (p.Asn192Lys) | |
| 11 | g.62996066T>A | CA380982594 | SLC22A8 | c.848A>T (p.Asn283Ile) c.479A>T (p.Asn160Ile) n.666A>T c.575A>T (p.Asn192Ile) | |
| 11 | g.62996066T>C | CA380982596 | SLC22A8 | c.848A>G (p.Asn283Ser) c.479A>G (p.Asn160Ser) n.666A>G c.575A>G (p.Asn192Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62996066T>G | CA380982598 | SLC22A8 | c.848A>C (p.Asn283Thr) c.479A>C (p.Asn160Thr) n.666A>C c.575A>C (p.Asn192Thr) | |
| 11 | g.62996066T= | CA1978013205 | SLC22A8 | c.848A= (p.Asn283=) c.479A= (p.Asn160=) n.666A= c.575A= (p.Asn192=) | |
| 11 | g.62996067T>A | CA380982600 | SLC22A8 | c.847A>T (p.Asn283Tyr) c.478A>T (p.Asn160Tyr) n.665A>T c.574A>T (p.Asn192Tyr) | |
| 11 | g.62996067T>C | CA6059820 | SLC22A8 | c.847A>G (p.Asn283Asp) c.478A>G (p.Asn160Asp) n.665A>G c.574A>G (p.Asn192Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996067T>G | CA380982601 | SLC22A8 | c.847A>C (p.Asn283His) c.478A>C (p.Asn160His) n.665A>C c.574A>C (p.Asn192His) | |
| 11 | g.62996067T= | CA1978013207 | SLC22A8 | c.847A= (p.Asn283=) c.478A= (p.Asn160=) n.665A= c.574A= (p.Asn192=) | |
| 11 | g.62996068G>A | CA475140809 | SLC22A8 | c.846C>T (p.Phe282=) c.477C>T (p.Phe159=) n.664C>T c.573C>T (p.Phe191=) | |
| 11 | g.62996068G>C | CA380982605 | SLC22A8 | c.846C>G (p.Phe282Leu) c.477C>G (p.Phe159Leu) n.664C>G c.573C>G (p.Phe191Leu) | |
| 11 | g.62996068G>T | CA380982606 | SLC22A8 | c.846C>A (p.Phe282Leu) c.477C>A (p.Phe159Leu) n.664C>A c.573C>A (p.Phe191Leu) | |
| 11 | g.62996069A>C | CA380982608 | SLC22A8 | c.845T>G (p.Phe282Cys) c.476T>G (p.Phe159Cys) n.663T>G c.572T>G (p.Phe191Cys) | |
| 11 | g.62996069A>G | CA380982610 | SLC22A8 | c.845T>C (p.Phe282Ser) c.476T>C (p.Phe159Ser) n.663T>C c.572T>C (p.Phe191Ser) | gnomAD v4 |
| 11 | g.62996069A>T | CA380982611 | SLC22A8 | c.845T>A (p.Phe282Tyr) c.476T>A (p.Phe159Tyr) n.663T>A c.572T>A (p.Phe191Tyr) | |
| 11 | g.62996070A= | CA1978013209 | SLC22A8 | c.844T= (p.Phe282=) c.475T= (p.Phe159=) n.662T= c.571T= (p.Phe191=) | |
| 11 | g.62996070A>C | CA380982613 | SLC22A8 | c.844T>G (p.Phe282Val) c.475T>G (p.Phe159Val) n.662T>G c.571T>G (p.Phe191Val) | |
| 11 | g.62996070A>G | CA380982614 | SLC22A8 | c.844T>C (p.Phe282Leu) c.475T>C (p.Phe159Leu) n.662T>C c.571T>C (p.Phe191Leu) | |
| 11 | g.62996070A>T | CA6059821 | SLC22A8 | c.844T>A (p.Phe282Ile) c.475T>A (p.Phe159Ile) n.662T>A c.571T>A (p.Phe191Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996071G>A | CA475140810 | SLC22A8 | c.843C>T (p.Val281=) c.474C>T (p.Val158=) n.661C>T c.570C>T (p.Val190=) | dbSNP |
| 11 | g.62996071G>C | CA475140811 | SLC22A8 | c.843C>G (p.Val281=) c.474C>G (p.Val158=) n.661C>G c.570C>G (p.Val190=) | |
| 11 | g.62996071G= | CA1978013210 | SLC22A8 | c.843C= (p.Val281=) c.474C= (p.Val158=) n.661C= c.570C= (p.Val190=) | |
| 11 | g.62996071G>T | CA475140812 | SLC22A8 | c.843C>A (p.Val281=) c.474C>A (p.Val158=) n.661C>A c.570C>A (p.Val190=) | |
| 11 | g.62996072A= | CA1978013214 | SLC22A8 | c.842T= (p.Val281=) c.473T= (p.Val158=) n.660T= c.569T= (p.Val190=) | |
| 11 | g.62996072A>C | CA380982617 | SLC22A8 | c.842T>G (p.Val281Gly) c.473T>G (p.Val158Gly) n.660T>G c.569T>G (p.Val190Gly) | |
| 11 | g.62996072A>G | CA6059822 | SLC22A8 | c.842T>C (p.Val281Ala) c.473T>C (p.Val158Ala) n.660T>C c.569T>C (p.Val190Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996072A>T | CA380982619 | SLC22A8 | c.842T>A (p.Val281Asp) c.473T>A (p.Val158Asp) n.660T>A c.569T>A (p.Val190Asp) | dbSNP |
| 11 | g.62996073C>A | CA380982621 | SLC22A8 | c.841G>T (p.Val281Phe) c.472G>T (p.Val158Phe) n.659G>T c.568G>T (p.Val190Phe) | |
| 11 | g.62996073C>G | CA380982624 | SLC22A8 | c.841G>C (p.Val281Leu) c.472G>C (p.Val158Leu) n.659G>C c.568G>C (p.Val190Leu) | |
| 11 | g.62996073C>T | CA380982623 | SLC22A8 | c.841G>A (p.Val281Ile) c.472G>A (p.Val158Ile) n.659G>A c.568G>A (p.Val190Ile) | |
| 11 | g.62996074A>C | CA475140816 | SLC22A8 | c.840T>G (p.Ala280=) c.471T>G (p.Ala157=) n.658T>G c.567T>G (p.Ala189=) | |
| 11 | g.62996074A>G | CA475140819 | SLC22A8 | c.840T>C (p.Ala280=) c.471T>C (p.Ala157=) n.658T>C c.567T>C (p.Ala189=) | |
| 11 | g.62996074A>T | CA475140818 | SLC22A8 | c.840T>A (p.Ala280=) c.471T>A (p.Ala157=) n.658T>A c.567T>A (p.Ala189=) | |
| 11 | g.62996075G>A | CA223623895 | SLC22A8 | c.839C>T (p.Ala280Val) c.470C>T (p.Ala157Val) n.657C>T c.566C>T (p.Ala189Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996075G>C | CA380982627 | SLC22A8 | c.839C>G (p.Ala280Gly) c.470C>G (p.Ala157Gly) n.657C>G c.566C>G (p.Ala189Gly) | |
| 11 | g.62996075G= | CA1978013217 | SLC22A8 | c.839C= (p.Ala280=) c.470C= (p.Ala157=) n.657C= c.566C= (p.Ala189=) | |
| 11 | g.62996075G>T | CA380982628 | SLC22A8 | c.839C>A (p.Ala280Asp) c.470C>A (p.Ala157Asp) n.657C>A c.566C>A (p.Ala189Asp) | |
| 11 | g.62996076C>A | CA380982629 | SLC22A8 | c.838G>T (p.Ala280Ser) c.469G>T (p.Ala157Ser) n.656G>T c.565G>T (p.Ala189Ser) | |
| 11 | g.62996076C= | CA1978013219 | SLC22A8 | c.838G= (p.Ala280=) c.469G= (p.Ala157=) n.656G= c.565G= (p.Ala189=) | |
| 11 | g.62996076C>G | CA380982630 | SLC22A8 | c.838G>C (p.Ala280Pro) c.469G>C (p.Ala157Pro) n.656G>C c.565G>C (p.Ala189Pro) | |
| 11 | g.62996076C>T | CA380982632 | SLC22A8 | c.838G>A (p.Ala280Thr) c.469G>A (p.Ala157Thr) n.656G>A c.565G>A (p.Ala189Thr) | |
| 11 | g.62996076_62996077insA | CA918896374 | SLC22A8 | c.837_838insT (p.Ala280CysfsTer?) c.468_469insT (p.Ala157CysfsTer?) n.655_656insT c.564_565insT (p.Ala189CysfsTer?) | dbSNP |
| 11 | g.62996077C>A | CA475140823 | SLC22A8 | c.837G>T (p.Val279=) c.468G>T (p.Val156=) n.655G>T c.564G>T (p.Val188=) | |
| 11 | g.62996077C>G | CA475140824 | SLC22A8 | c.837G>C (p.Val279=) c.468G>C (p.Val156=) n.655G>C c.564G>C (p.Val188=) | |
| 11 | g.62996077C>T | CA475140825 | SLC22A8 | c.837G>A (p.Val279=) c.468G>A (p.Val156=) n.655G>A c.564G>A (p.Val188=) | |
| 11 | g.62996078A= | CA1978013221 | SLC22A8 | c.836T= (p.Val279=) c.467T= (p.Val156=) n.654T= c.563T= (p.Val188=) | |
| 11 | g.62996078A>C | CA380982634 | SLC22A8 | c.836T>G (p.Val279Gly) c.467T>G (p.Val156Gly) n.654T>G c.563T>G (p.Val188Gly) | dbSNP |
| 11 | g.62996078A>G | CA380982636 | SLC22A8 | c.836T>C (p.Val279Ala) c.467T>C (p.Val156Ala) n.654T>C c.563T>C (p.Val188Ala) | gnomAD v4 |
| 11 | g.62996078A>T | CA380982637 | SLC22A8 | c.836T>A (p.Val279Glu) c.467T>A (p.Val156Glu) n.654T>A c.563T>A (p.Val188Glu) | |
| 11 | g.62996079C>A | CA380982640 | SLC22A8 | c.835G>T (p.Val279Leu) c.466G>T (p.Val156Leu) n.653G>T c.562G>T (p.Val188Leu) | |
| 11 | g.62996079C= | CA1978013223 | SLC22A8 | c.835G= (p.Val279=) c.466G= (p.Val156=) n.653G= c.562G= (p.Val188=) | |
| 11 | g.62996079C>G | CA380982641 | SLC22A8 | c.835G>C (p.Val279Leu) c.466G>C (p.Val156Leu) n.653G>C c.562G>C (p.Val188Leu) | |
| 11 | g.62996079C>T | CA380982643 | SLC22A8 | c.835G>A (p.Val279Met) c.466G>A (p.Val156Met) n.653G>A c.562G>A (p.Val188Met) | dbSNP gnomAD v4 COSMIC |
| 11 | g.62996081del | CA2614035276 | SLC22A8 | c.835del (p.Val279TrpfsTer?) c.466del (p.Val156TrpfsTer?) n.653del c.562del (p.Val188TrpfsTer?) | gnomAD v4 |
| 11 | g.62996080C>A | CA475140829 | SLC22A8 | c.834G>T (p.Arg278=) c.465G>T (p.Arg155=) n.652G>T c.561G>T (p.Arg187=) | dbSNP |
| 11 | g.62996080C= | CA1978013225 | SLC22A8 | c.834G= (p.Arg278=) c.465G= (p.Arg155=) n.652G= c.561G= (p.Arg187=) | |
| 11 | g.62996080C>G | CA475140830 | SLC22A8 | c.834G>C (p.Arg278=) c.465G>C (p.Arg155=) n.652G>C c.561G>C (p.Arg187=) | |
| 11 | g.62996080C>T | CA475140831 | SLC22A8 | c.834G>A (p.Arg278=) c.465G>A (p.Arg155=) n.652G>A c.561G>A (p.Arg187=) | |
| 11 | g.62996081C>A | CA380982647 | SLC22A8 | c.833G>T (p.Arg278Leu) c.464G>T (p.Arg155Leu) n.651G>T c.560G>T (p.Arg187Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.62996081C= | CA1978013227 | SLC22A8 | c.833G= (p.Arg278=) c.464G= (p.Arg155=) n.651G= c.560G= (p.Arg187=) | |
| 11 | g.62996081C>G | CA380982645 | SLC22A8 | c.833G>C (p.Arg278Pro) c.464G>C (p.Arg155Pro) n.651G>C c.560G>C (p.Arg187Pro) | |
| 11 | g.62996081C>T | CA223623896 | SLC22A8 | c.833G>A (p.Arg278Gln) c.464G>A (p.Arg155Gln) n.651G>A c.560G>A (p.Arg187Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996082G>A | CA223623901 | SLC22A8 | c.832C>T (p.Arg278Trp) c.463C>T (p.Arg155Trp) n.650C>T c.559C>T (p.Arg187Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996082G>C | CA380982649 | SLC22A8 | c.832C>G (p.Arg278Gly) c.463C>G (p.Arg155Gly) n.650C>G c.559C>G (p.Arg187Gly) | |
| 11 | g.62996082G= | CA1978013229 | SLC22A8 | c.832C= (p.Arg278=) c.463C= (p.Arg155=) n.650C= c.559C= (p.Arg187=) | |
| 11 | g.62996082G>T | CA475140835 | SLC22A8 | c.832C>A (p.Arg278=) c.463C>A (p.Arg155=) n.650C>A c.559C>A (p.Arg187=) | |
| 11 | g.62996083C>A | CA475140839 | SLC22A8 | c.831G>T (p.Arg277=) c.462G>T (p.Arg154=) n.649G>T c.558G>T (p.Arg186=) | |
| 11 | g.62996083C>G | CA475140837 | SLC22A8 | c.831G>C (p.Arg277=) c.462G>C (p.Arg154=) n.649G>C c.558G>C (p.Arg186=) | |
| 11 | g.62996083C>T | CA475140838 | SLC22A8 | c.831G>A (p.Arg277=) c.462G>A (p.Arg154=) n.649G>A c.558G>A (p.Arg186=) | |
| 11 | g.62996084C>A | CA380982651 | SLC22A8 | c.830G>T (p.Arg277Leu) c.461G>T (p.Arg154Leu) n.648G>T c.557G>T (p.Arg186Leu) | |
| 11 | g.62996084C= | CA1978013231 | SLC22A8 | c.830G= (p.Arg277=) c.461G= (p.Arg154=) n.648G= c.557G= (p.Arg186=) | |
| 11 | g.62996084C>G | CA380982653 | SLC22A8 | c.830G>C (p.Arg277Pro) c.461G>C (p.Arg154Pro) n.648G>C c.557G>C (p.Arg186Pro) | |
| 11 | g.62996084C>T | CA6059823 | SLC22A8 | c.830G>A (p.Arg277Gln) c.461G>A (p.Arg154Gln) n.648G>A c.557G>A (p.Arg186Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996085G>A | CA6059824 | SLC22A8 | c.829C>T (p.Arg277Trp) c.460C>T (p.Arg154Trp) n.647C>T c.556C>T (p.Arg186Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996085G>C | CA380982656 | SLC22A8 | c.829C>G (p.Arg277Gly) c.460C>G (p.Arg154Gly) n.647C>G c.556C>G (p.Arg186Gly) | |
| 11 | g.62996085G= | CA1978013233 | SLC22A8 | c.829C= (p.Arg277=) c.460C= (p.Arg154=) n.647C= c.556C= (p.Arg186=) | |
| 11 | g.62996085G>T | CA475140842 | SLC22A8 | c.829C>A (p.Arg277=) c.460C>A (p.Arg154=) n.647C>A c.556C>A (p.Arg186=) | |
| 11 | g.62996085_62996086delinsAA | CA645575933 | SLC22A8 | c.828_829delinsTT (p.Arg277Trp) c.459_460delinsTT (p.Arg154Trp) n.646_647delinsTT c.555_556delinsTT (p.Arg186Trp) | COSMIC |
| 11 | g.62996086G>A | CA475140844 | SLC22A8 | c.828C>T (p.Leu276=) c.459C>T (p.Leu153=) n.646C>T c.555C>T (p.Leu185=) | |
| 11 | g.62996086G>C | CA475140845 | SLC22A8 | c.828C>G (p.Leu276=) c.459C>G (p.Leu153=) n.646C>G c.555C>G (p.Leu185=) | |
| 11 | g.62996086G= | CA1978013235 | SLC22A8 | c.828C= (p.Leu276=) c.459C= (p.Leu153=) n.646C= c.555C= (p.Leu185=) | |
| 11 | g.62996086G>T | CA6059825 | SLC22A8 | c.828C>A (p.Leu276=) c.459C>A (p.Leu153=) n.646C>A c.555C>A (p.Leu185=) | dbSNP ExAC |
| 11 | g.62996087A>C | CA380982659 | SLC22A8 | c.827T>G (p.Leu276Arg) c.458T>G (p.Leu153Arg) n.645T>G c.554T>G (p.Leu185Arg) | |
| 11 | g.62996087A>G | CA380982660 | SLC22A8 | c.827T>C (p.Leu276Pro) c.458T>C (p.Leu153Pro) n.645T>C c.554T>C (p.Leu185Pro) | gnomAD v4 |
| 11 | g.62996087A>T | CA380982661 | SLC22A8 | c.827T>A (p.Leu276His) c.458T>A (p.Leu153His) n.645T>A c.554T>A (p.Leu185His) | |
| 11 | g.62996088G>A | CA380982665 | SLC22A8 | c.826C>T (p.Leu276Phe) c.457C>T (p.Leu153Phe) n.644C>T c.553C>T (p.Leu185Phe) | gnomAD v4 |
| 11 | g.62996088G>C | CA380982666 | SLC22A8 | c.826C>G (p.Leu276Val) c.457C>G (p.Leu153Val) n.644C>G c.553C>G (p.Leu185Val) | |
| 11 | g.62996088G>T | CA380982663 | SLC22A8 | c.826C>A (p.Leu276Ile) c.457C>A (p.Leu153Ile) n.644C>A c.553C>A (p.Leu185Ile) | gnomAD v4 |
| 11 | g.62996089T>A | CA475140848 | SLC22A8 | c.825A>T (p.Ile275=) c.456A>T (p.Ile152=) n.643A>T c.552A>T (p.Ile184=) | |
| 11 | g.62996089T>C | CA6059826 | SLC22A8 | c.825A>G (p.Ile275Met) c.456A>G (p.Ile152Met) n.643A>G c.552A>G (p.Ile184Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996089T>G | CA475140850 | SLC22A8 | c.825A>C (p.Ile275=) c.456A>C (p.Ile152=) n.643A>C c.552A>C (p.Ile184=) | |
| 11 | g.62996089T= | CA1978013237 | SLC22A8 | c.825A= (p.Ile275=) c.456A= (p.Ile152=) n.643A= c.552A= (p.Ile184=) | |
| 11 | g.62996090A>C | CA380982669 | SLC22A8 | c.824T>G (p.Ile275Arg) c.455T>G (p.Ile152Arg) n.642T>G c.551T>G (p.Ile184Arg) | |
| 11 | g.62996090A>G | CA380982671 | SLC22A8 | c.824T>C (p.Ile275Thr) c.455T>C (p.Ile152Thr) n.642T>C c.551T>C (p.Ile184Thr) | gnomAD v4 |
| 11 | g.62996090A>T | CA380982672 | SLC22A8 | c.824T>A (p.Ile275Lys) c.455T>A (p.Ile152Lys) n.642T>A c.551T>A (p.Ile184Lys) | |
| 11 | g.62996091T>A | CA380982673 | SLC22A8 | c.823A>T (p.Ile275Leu) c.454A>T (p.Ile152Leu) n.641A>T c.550A>T (p.Ile184Leu) | gnomAD v4 |
| 11 | g.62996091T>C | CA380982675 | SLC22A8 | c.823A>G (p.Ile275Val) c.454A>G (p.Ile152Val) n.641A>G c.550A>G (p.Ile184Val) | gnomAD v4 |
| 11 | g.62996091T>G | CA380982677 | SLC22A8 | c.823A>C (p.Ile275Leu) c.454A>C (p.Ile152Leu) n.641A>C c.550A>C (p.Ile184Leu) | |
| 11 | g.62996092C>A | CA380982678 | SLC22A8 | c.822G>T (p.Lys274Asn) c.453G>T (p.Lys151Asn) n.640G>T n.543G>T c.549G>T (p.Lys183Asn) | |
| 11 | g.62996092C>G | CA380982680 | SLC22A8 | c.822G>C (p.Lys274Asn) c.453G>C (p.Lys151Asn) n.640G>C n.543G>C c.549G>C (p.Lys183Asn) | |
| 11 | g.62996092C>T | CA475140854 | SLC22A8 | c.822G>A (p.Lys274=) c.453G>A (p.Lys151=) n.640G>A n.543G>A c.549G>A (p.Lys183=) | gnomAD v4 |
| 11 | g.62996093T>A | CA380982682 | SLC22A8 | c.821A>T (p.Lys274Met) c.452A>T (p.Lys151Met) n.639A>T n.542A>T c.548A>T (p.Lys183Met) | |
| 11 | g.62996093T>C | CA380982684 | SLC22A8 | c.821A>G (p.Lys274Arg) c.452A>G (p.Lys151Arg) n.639A>G n.542A>G c.548A>G (p.Lys183Arg) | |
| 11 | g.62996093T>G | CA380982685 | SLC22A8 | c.821A>C (p.Lys274Thr) c.452A>C (p.Lys151Thr) n.639A>C n.542A>C c.548A>C (p.Lys183Thr) | |
| 11 | g.62996094T>A | CA380982686 | SLC22A8 | c.820A>T (p.Lys274Ter) c.451A>T (p.Lys151Ter) n.638A>T n.541A>T c.547A>T (p.Lys183Ter) | |
| 11 | g.62996094T>C | CA380982688 | SLC22A8 | c.820A>G (p.Lys274Glu) c.451A>G (p.Lys151Glu) n.638A>G n.541A>G c.547A>G (p.Lys183Glu) | |
| 11 | g.62996094T>G | CA380982690 | SLC22A8 | c.820A>C (p.Lys274Gln) c.451A>C (p.Lys151Gln) n.638A>C n.541A>C c.547A>C (p.Lys183Gln) | |
| 11 | g.62996095C>A | CA475140855 | SLC22A8 | c.819G>T (p.Leu273=) c.450G>T (p.Leu150=) n.637G>T n.540G>T c.546G>T (p.Leu182=) | |
| 11 | g.62996095C>G | CA475140856 | SLC22A8 | c.819G>C (p.Leu273=) c.450G>C (p.Leu150=) n.637G>C n.540G>C c.546G>C (p.Leu182=) | |
| 11 | g.62996095C>T | CA475140857 | SLC22A8 | c.819G>A (p.Leu273=) c.450G>A (p.Leu150=) n.637G>A n.540G>A c.546G>A (p.Leu182=) | |
| 11 | g.62996095_62996096insCAGACA | CA2614035277 | SLC22A8 | c.818_819insTGTCTG (p.Leu273_Lys274insValTrp) c.449_450insTGTCTG (p.Leu150_Lys151insValTrp) n.636_637insTGTCTG n.539_540insTGTCTG c.545_546insTGTCTG (p.Leu182_Lys183insValTrp) | gnomAD v4 |
| 11 | g.62996096A>C | CA380982692 | SLC22A8 | c.818T>G (p.Leu273Arg) c.449T>G (p.Leu150Arg) n.636T>G n.539T>G c.545T>G (p.Leu182Arg) | |
| 11 | g.62996096A>G | CA380982695 | SLC22A8 | c.818T>C (p.Leu273Pro) c.449T>C (p.Leu150Pro) n.636T>C n.539T>C c.545T>C (p.Leu182Pro) | |
| 11 | g.62996096A>T | CA380982693 | SLC22A8 | c.818T>A (p.Leu273Gln) c.449T>A (p.Leu150Gln) n.636T>A n.539T>A c.545T>A (p.Leu182Gln) | |
| 11 | g.62996097G>A | CA475140858 | SLC22A8 | c.817C>T (p.Leu273=) c.448C>T (p.Leu150=) n.635C>T n.538C>T c.544C>T (p.Leu182=) | |
| 11 | g.62996097G>C | CA380982697 | SLC22A8 | c.817C>G (p.Leu273Val) c.448C>G (p.Leu150Val) n.635C>G n.538C>G c.544C>G (p.Leu182Val) | |
| 11 | g.62996097G>T | CA380982698 | SLC22A8 | c.817C>A (p.Leu273Met) c.448C>A (p.Leu150Met) n.635C>A n.538C>A c.544C>A (p.Leu182Met) | |
| 11 | g.62996098G>A | CA475140859 | SLC22A8 | c.816C>T (p.Ala272=) c.447C>T (p.Ala149=) n.634C>T n.537C>T c.543C>T (p.Ala181=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.62996098G>C | CA475140860 | SLC22A8 | c.816C>G (p.Ala272=) c.447C>G (p.Ala149=) n.634C>G n.537C>G c.543C>G (p.Ala181=) | gnomAD v4 |
| 11 | g.62996098G= | CA1978013239 | SLC22A8 | c.816C= (p.Ala272=) c.447C= (p.Ala149=) n.634C= n.537C= c.543C= (p.Ala181=) | |
| 11 | g.62996098G>T | CA475140861 | SLC22A8 | c.816C>A (p.Ala272=) c.447C>A (p.Ala149=) n.634C>A n.537C>A c.543C>A (p.Ala181=) | |
| 11 | g.62996099G>A | CA380982700 | SLC22A8 | c.815C>T (p.Ala272Val) c.446C>T (p.Ala149Val) n.633C>T n.536C>T c.542C>T (p.Ala181Val) | gnomAD v4 |
| 11 | g.62996099G>C | CA6059827 | SLC22A8 | c.815C>G (p.Ala272Gly) c.446C>G (p.Ala149Gly) n.633C>G n.536C>G c.542C>G (p.Ala181Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996099G= | CA1978013241 | SLC22A8 | c.815C= (p.Ala272=) c.446C= (p.Ala149=) n.633C= n.536C= c.542C= (p.Ala181=) | |
| 11 | g.62996099G>T | CA380982703 | SLC22A8 | c.815C>A (p.Ala272Asp) c.446C>A (p.Ala149Asp) n.633C>A n.536C>A c.542C>A (p.Ala181Asp) | |
| 11 | g.62996100C>A | CA380982704 | SLC22A8 | c.814G>T (p.Ala272Ser) c.445G>T (p.Ala149Ser) n.632G>T n.535G>T c.541G>T (p.Ala181Ser) | |
| 11 | g.62996100C= | CA1978013242 | SLC22A8 | c.814G= (p.Ala272=) c.445G= (p.Ala149=) n.632G= n.535G= c.541G= (p.Ala181=) | |
| 11 | g.62996100C>G | CA380982705 | SLC22A8 | c.814G>C (p.Ala272Pro) c.445G>C (p.Ala149Pro) n.632G>C n.535G>C c.541G>C (p.Ala181Pro) | |
| 11 | g.62996100C>T | CA380982707 | SLC22A8 | c.814G>A (p.Ala272Thr) c.445G>A (p.Ala149Thr) n.632G>A n.535G>A c.541G>A (p.Ala181Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996101C>A | CA380982709 | SLC22A8 | c.813G>T (p.Lys271Asn) c.444G>T (p.Lys148Asn) n.631G>T n.534G>T c.540G>T (p.Lys180Asn) | |
| 11 | g.62996101C= | CA1978013244 | SLC22A8 | c.813G= (p.Lys271=) c.444G= (p.Lys148=) n.631G= n.534G= c.540G= (p.Lys180=) | |
| 11 | g.62996101C>G | CA6059828 | SLC22A8 | c.813G>C (p.Lys271Asn) c.444G>C (p.Lys148Asn) n.631G>C n.534G>C c.540G>C (p.Lys180Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.62996101C>T | CA475140862 | SLC22A8 | c.813G>A (p.Lys271=) c.444G>A (p.Lys148=) n.631G>A n.534G>A c.540G>A (p.Lys180=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62996102T>A | CA380982712 | SLC22A8 | c.812A>T (p.Lys271Met) c.443A>T (p.Lys148Met) n.630A>T n.533A>T c.539A>T (p.Lys180Met) | |
| 11 | g.62996102T>C | CA380982713 | SLC22A8 | c.812A>G (p.Lys271Arg) c.443A>G (p.Lys148Arg) n.630A>G n.533A>G c.539A>G (p.Lys180Arg) | |
| 11 | g.62996102T>G | CA380982715 | SLC22A8 | c.812A>C (p.Lys271Thr) c.443A>C (p.Lys148Thr) n.630A>C n.533A>C c.539A>C (p.Lys180Thr) | |
| 11 | g.62996103T>A | CA380982717 | SLC22A8 | c.811A>T (p.Lys271Ter) c.442A>T (p.Lys148Ter) n.629A>T n.532A>T c.538A>T (p.Lys180Ter) | |
| 11 | g.62996103T>C | CA380982719 | SLC22A8 | c.811A>G (p.Lys271Glu) c.442A>G (p.Lys148Glu) n.629A>G n.532A>G c.538A>G (p.Lys180Glu) | |
| 11 | g.62996103T>G | CA380982718 | SLC22A8 | c.811A>C (p.Lys271Gln) c.442A>C (p.Lys148Gln) n.629A>C n.532A>C c.538A>C (p.Lys180Gln) | |
| 11 | g.62996104C>A | CA475140864 | SLC22A8 | c.810G>T (p.Ser270=) c.441G>T (p.Ser147=) n.628G>T n.531G>T c.537G>T (p.Ser179=) | |
| 11 | g.62996104C= | CA1978013246 | SLC22A8 | c.810G= (p.Ser270=) c.441G= (p.Ser147=) n.628G= n.531G= c.537G= (p.Ser179=) | |
| 11 | g.62996104C>G | CA475140863 | SLC22A8 | c.810G>C (p.Ser270=) c.441G>C (p.Ser147=) n.628G>C n.531G>C c.537G>C (p.Ser179=) | gnomAD v4 |
| 11 | g.62996104C>T | CA6059829 | SLC22A8 | c.810G>A (p.Ser270=) c.441G>A (p.Ser147=) n.628G>A n.531G>A c.537G>A (p.Ser179=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996105G>A | CA6059830 | SLC22A8 | c.809C>T (p.Ser270Leu) c.440C>T (p.Ser147Leu) n.627C>T n.530C>T c.536C>T (p.Ser179Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.62996105G>C | CA380982720 | SLC22A8 | c.809C>G (p.Ser270Trp) c.440C>G (p.Ser147Trp) n.627C>G n.530C>G c.536C>G (p.Ser179Trp) | |
| 11 | g.62996105G= | CA1978013248 | SLC22A8 | c.809C= (p.Ser270=) c.440C= (p.Ser147=) n.627C= n.530C= c.536C= (p.Ser179=) | |
| 11 | g.62996105G>T | CA380982721 | SLC22A8 | c.809C>A (p.Ser270Ter) c.440C>A (p.Ser147Ter) n.627C>A n.530C>A c.536C>A (p.Ser179Ter) | |
| 11 | g.62996106A= | CA1978013250 | SLC22A8 | c.808T= (p.Ser270=) c.439T= (p.Ser147=) n.626T= n.529T= n.648T= c.535T= (p.Ser179=) | |
| 11 | g.62996106A>C | CA380982722 | SLC22A8 | c.808T>G (p.Ser270Ala) c.439T>G (p.Ser147Ala) n.626T>G n.529T>G n.648T>G c.535T>G (p.Ser179Ala) | |
| 11 | g.62996106A>G | CA223623905 | SLC22A8 | c.808T>C (p.Ser270Pro) c.439T>C (p.Ser147Pro) n.626T>C n.529T>C n.648T>C c.535T>C (p.Ser179Pro) | dbSNP gnomAD v4 |
| 11 | g.62996106A>T | CA380982723 | SLC22A8 | c.808T>A (p.Ser270Thr) c.439T>A (p.Ser147Thr) n.626T>A n.529T>A n.648T>A c.535T>A (p.Ser179Thr) | |
| 11 | g.62996107G>A | CA475140865 | SLC22A8 | c.807C>T (p.Ser269=) c.438C>T (p.Ser146=) n.625C>T n.528C>T n.647C>T c.534C>T (p.Ser178=) | gnomAD v4 |
| 11 | g.62996107G>C | CA475140866 | SLC22A8 | c.807C>G (p.Ser269=) c.438C>G (p.Ser146=) n.625C>G n.528C>G n.647C>G c.534C>G (p.Ser178=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996107G= | CA1978013252 | SLC22A8 | c.807C= (p.Ser269=) c.438C= (p.Ser146=) n.625C= n.528C= n.647C= c.534C= (p.Ser178=) | |
| 11 | g.62996107G>T | CA475140867 | SLC22A8 | c.807C>A (p.Ser269=) c.438C>A (p.Ser146=) n.625C>A n.528C>A n.647C>A c.534C>A (p.Ser178=) | |
| 11 | g.62996108G>A | CA380982724 | SLC22A8 | c.806C>T (p.Ser269Phe) c.437C>T (p.Ser146Phe) n.624C>T n.527C>T n.646C>T c.533C>T (p.Ser178Phe) | COSMIC |
| 11 | g.62996108G>C | CA380982725 | SLC22A8 | c.806C>G (p.Ser269Cys) c.437C>G (p.Ser146Cys) n.624C>G n.527C>G n.646C>G c.533C>G (p.Ser178Cys) | |
| 11 | g.62996108G>T | CA380982726 | SLC22A8 | c.806C>A (p.Ser269Tyr) c.437C>A (p.Ser146Tyr) n.624C>A n.527C>A n.646C>A c.533C>A (p.Ser178Tyr) | |
| 11 | g.62996109A>C | CA380982727 | SLC22A8 | c.805T>G (p.Ser269Ala) c.436T>G (p.Ser146Ala) n.623T>G n.526T>G n.645T>G c.532T>G (p.Ser178Ala) | |
| 11 | g.62996109A>G | CA380982728 | SLC22A8 | c.805T>C (p.Ser269Pro) c.436T>C (p.Ser146Pro) n.623T>C n.526T>C n.645T>C c.532T>C (p.Ser178Pro) | gnomAD v3 gnomAD v4 |
| 11 | g.62996109A>T | CA380982729 | SLC22A8 | c.805T>A (p.Ser269Thr) c.436T>A (p.Ser146Thr) n.623T>A n.526T>A n.645T>A c.532T>A (p.Ser178Thr) | |
| 11 | g.62996110C>A | CA380982731 | SLC22A8 | c.804G>T (p.Lys268Asn) c.435G>T (p.Lys145Asn) n.622G>T n.525G>T n.644G>T c.531G>T (p.Lys177Asn) | dbSNP gnomAD v4 |
| 11 | g.62996110C= | CA1978013254 | SLC22A8 | c.804G= (p.Lys268=) c.435G= (p.Lys145=) n.622G= n.525G= n.644G= c.531G= (p.Lys177=) | |
| 11 | g.62996110C>G | CA380982730 | SLC22A8 | c.804G>C (p.Lys268Asn) c.435G>C (p.Lys145Asn) n.622G>C n.525G>C n.644G>C c.531G>C (p.Lys177Asn) | |
| 11 | g.62996110C>T | CA475140868 | SLC22A8 | c.804G>A (p.Lys268=) c.435G>A (p.Lys145=) n.622G>A n.525G>A n.644G>A c.531G>A (p.Lys177=) | |
| 11 | g.62996111T>A | CA380982732 | SLC22A8 | c.803A>T (p.Lys268Met) c.434A>T (p.Lys145Met) n.621A>T n.524A>T n.643A>T c.530A>T (p.Lys177Met) | |
| 11 | g.62996111T>C | CA380982733 | SLC22A8 | c.803A>G (p.Lys268Arg) c.434A>G (p.Lys145Arg) n.621A>G n.524A>G n.643A>G c.530A>G (p.Lys177Arg) | |
| 11 | g.62996111T>G | CA380982734 | SLC22A8 | c.803A>C (p.Lys268Thr) c.434A>C (p.Lys145Thr) n.621A>C n.524A>C n.643A>C c.530A>C (p.Lys177Thr) | |
| 11 | g.62996112T>A | CA380982735 | SLC22A8 | c.802A>T (p.Lys268Ter) c.433A>T (p.Lys145Ter) n.620A>T n.523A>T n.642A>T c.529A>T (p.Lys177Ter) | |
| 11 | g.62996112T>C | CA380982736 | SLC22A8 | c.802A>G (p.Lys268Glu) c.433A>G (p.Lys145Glu) n.620A>G n.523A>G n.642A>G c.529A>G (p.Lys177Glu) | |
| 11 | g.62996112T>G | CA380982737 | SLC22A8 | c.802A>C (p.Lys268Gln) c.433A>C (p.Lys145Gln) n.620A>C n.523A>C n.642A>C c.529A>C (p.Lys177Gln) | |
| 11 | g.62996113T>A | CA475140869 | SLC22A8 | c.801A>T (p.Gly267=) c.432A>T (p.Gly144=) n.619A>T n.522A>T n.641A>T c.528A>T (p.Gly176=) | |
| 11 | g.62996113T>C | CA475140870 | SLC22A8 | c.801A>G (p.Gly267=) c.432A>G (p.Gly144=) n.619A>G n.522A>G n.641A>G c.528A>G (p.Gly176=) | |
| 11 | g.62996113T>G | CA475140871 | SLC22A8 | c.801A>C (p.Gly267=) c.432A>C (p.Gly144=) n.619A>C n.522A>C n.641A>C c.528A>C (p.Gly176=) | |
| 11 | g.62996114C>A | CA380982738 | SLC22A8 | c.800G>T (p.Gly267Val) c.431G>T (p.Gly144Val) n.618G>T n.521G>T n.640G>T c.527G>T (p.Gly176Val) | |
| 11 | g.62996114C>G | CA380982739 | SLC22A8 | c.800G>C (p.Gly267Ala) c.431G>C (p.Gly144Ala) n.618G>C n.521G>C n.640G>C c.527G>C (p.Gly176Ala) | |
| 11 | g.62996114C>T | CA380982740 | SLC22A8 | c.800G>A (p.Gly267Glu) c.431G>A (p.Gly144Glu) n.618G>A n.521G>A n.640G>A c.527G>A (p.Gly176Glu) | |
| 11 | g.62996115C>A | CA380982741 | SLC22A8 | c.799G>T (p.Gly267Ter) c.430G>T (p.Gly144Ter) n.617G>T n.520G>T n.639G>T c.526G>T (p.Gly176Ter) | |
| 11 | g.62996115C= | CA1978013256 | SLC22A8 | c.799G= (p.Gly267=) c.430G= (p.Gly144=) n.617G= n.520G= n.639G= c.526G= (p.Gly176=) | |
| 11 | g.62996115C>G | CA380982742 | SLC22A8 | c.799G>C (p.Gly267Arg) c.430G>C (p.Gly144Arg) n.617G>C n.520G>C n.639G>C c.526G>C (p.Gly176Arg) | |
| 11 | g.62996115C>T | CA380982743 | SLC22A8 | c.799G>A (p.Gly267Arg) c.430G>A (p.Gly144Arg) n.617G>A n.520G>A n.639G>A c.526G>A (p.Gly176Arg) | dbSNP gnomAD v4 |
| 11 | g.62996116A= | CA1978013257 | SLC22A8 | c.798T= (p.Ser266=) c.429T= (p.Ser143=) n.616T= n.519T= n.638T= c.525T= (p.Ser175=) | |
| 11 | g.62996116A>C | CA475140872 | SLC22A8 | c.798T>G (p.Ser266=) c.429T>G (p.Ser143=) n.616T>G n.519T>G n.638T>G c.525T>G (p.Ser175=) | |
| 11 | g.62996116A>G | CA6059831 | SLC22A8 | c.798T>C (p.Ser266=) c.429T>C (p.Ser143=) n.616T>C n.519T>C n.638T>C c.525T>C (p.Ser175=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996116A>T | CA475140873 | SLC22A8 | c.798T>A (p.Ser266=) c.429T>A (p.Ser143=) n.616T>A n.519T>A n.638T>A c.525T>A (p.Ser175=) | |
| 11 | g.62996117G>A | CA380982744 | SLC22A8 | c.797C>T (p.Ser266Phe) c.428C>T (p.Ser143Phe) n.615C>T n.518C>T n.637C>T c.524C>T (p.Ser175Phe) | |
| 11 | g.62996117G>C | CA380982746 | SLC22A8 | c.797C>G (p.Ser266Cys) c.428C>G (p.Ser143Cys) n.615C>G n.518C>G n.637C>G c.524C>G (p.Ser175Cys) | |
| 11 | g.62996117G>T | CA380982745 | SLC22A8 | c.797C>A (p.Ser266Tyr) c.428C>A (p.Ser143Tyr) n.615C>A n.518C>A n.637C>A c.524C>A (p.Ser175Tyr) | |
| 11 | g.62996118A= | CA1978013259 | SLC22A8 | c.796T= (p.Ser266=) c.427T= (p.Ser143=) n.614T= n.517T= n.636T= c.523T= (p.Ser175=) | |
| 11 | g.62996118A>C | CA380982747 | SLC22A8 | c.796T>G (p.Ser266Ala) c.427T>G (p.Ser143Ala) n.614T>G n.517T>G n.636T>G c.523T>G (p.Ser175Ala) | |
| 11 | g.62996118A>G | CA380982749 | SLC22A8 | c.796T>C (p.Ser266Pro) c.427T>C (p.Ser143Pro) n.614T>C n.517T>C n.636T>C c.523T>C (p.Ser175Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996118A>T | CA380982748 | SLC22A8 | c.796T>A (p.Ser266Thr) c.427T>A (p.Ser143Thr) n.614T>A n.517T>A n.636T>A c.523T>A (p.Ser175Thr) | |
| 11 | g.62996119C>A | CA380982750 | SLC22A8 | c.795G>T (p.Leu265Phe) c.426G>T (p.Leu142Phe) n.613G>T n.516G>T n.635G>T c.522G>T (p.Leu174Phe) | dbSNP gnomAD v4 |
| 11 | g.62996119C= | CA1978013262 | SLC22A8 | c.795G= (p.Leu265=) c.426G= (p.Leu142=) n.613G= n.516G= n.635G= c.522G= (p.Leu174=) | |
| 11 | g.62996119C>G | CA380982751 | SLC22A8 | c.795G>C (p.Leu265Phe) c.426G>C (p.Leu142Phe) n.613G>C n.516G>C n.635G>C c.522G>C (p.Leu174Phe) | |
| 11 | g.62996119C>T | CA475140874 | SLC22A8 | c.795G>A (p.Leu265=) c.426G>A (p.Leu142=) n.613G>A n.516G>A n.635G>A c.522G>A (p.Leu174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996120A= | CA1978013263 | SLC22A8 | c.794T= (p.Leu265=) c.425T= (p.Leu142=) n.612T= n.515T= n.634T= c.521T= (p.Leu174=) | |
| 11 | g.62996120A>C | CA380982752 | SLC22A8 | c.794T>G (p.Leu265Trp) c.425T>G (p.Leu142Trp) n.612T>G n.515T>G n.634T>G c.521T>G (p.Leu174Trp) | |
| 11 | g.62996120A>G | CA380982753 | SLC22A8 | c.794T>C (p.Leu265Ser) c.425T>C (p.Leu142Ser) n.612T>C n.515T>C n.634T>C c.521T>C (p.Leu174Ser) | gnomAD v4 |
| 11 | g.62996120A>T | CA6059832 | SLC22A8 | c.794T>A (p.Leu265Ter) c.425T>A (p.Leu142Ter) n.612T>A n.515T>A n.634T>A c.521T>A (p.Leu174Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996121A>C | CA380982754 | SLC22A8 | c.793T>G (p.Leu265Val) c.424T>G (p.Leu142Val) n.611T>G n.514T>G n.633T>G c.520T>G (p.Leu174Val) | |
| 11 | g.62996121A>G | CA475140875 | SLC22A8 | c.793T>C (p.Leu265=) c.424T>C (p.Leu142=) n.611T>C n.514T>C n.633T>C c.520T>C (p.Leu174=) | |
| 11 | g.62996121A>T | CA380982755 | SLC22A8 | c.793T>A (p.Leu265Met) c.424T>A (p.Leu142Met) n.611T>A n.514T>A n.633T>A c.520T>A (p.Leu174Met) | |
| 11 | g.62996122G>A | CA475140876 | SLC22A8 | c.792C>T (p.Val264=) c.423C>T (p.Val141=) n.610C>T n.513C>T n.632C>T c.519C>T (p.Val173=) | gnomAD v4 |
| 11 | g.62996122G>C | CA475140877 | SLC22A8 | c.792C>G (p.Val264=) c.423C>G (p.Val141=) n.610C>G n.513C>G n.632C>G c.519C>G (p.Val173=) | |
| 11 | g.62996122G>T | CA475140878 | SLC22A8 | c.792C>A (p.Val264=) c.423C>A (p.Val141=) n.610C>A n.513C>A n.632C>A c.519C>A (p.Val173=) | |
| 11 | g.62996123A= | CA1978013265 | SLC22A8 | c.791T= (p.Val264=) c.422T= (p.Val141=) n.609T= n.512T= n.631T= c.518T= (p.Val173=) | |
| 11 | g.62996123A>C | CA380982756 | SLC22A8 | c.791T>G (p.Val264Gly) c.422T>G (p.Val141Gly) n.609T>G n.512T>G n.631T>G c.518T>G (p.Val173Gly) | dbSNP gnomAD v4 |
| 11 | g.62996123A>G | CA380982757 | SLC22A8 | c.791T>C (p.Val264Ala) c.422T>C (p.Val141Ala) n.609T>C n.512T>C n.631T>C c.518T>C (p.Val173Ala) | gnomAD v4 |
| 11 | g.62996123A>T | CA380982758 | SLC22A8 | c.791T>A (p.Val264Asp) c.422T>A (p.Val141Asp) n.609T>A n.512T>A n.631T>A c.518T>A (p.Val173Asp) | |
| 11 | g.62996124C>A | CA223623923 | SLC22A8 | c.790G>T (p.Val264Phe) c.421G>T (p.Val141Phe) n.608G>T n.511G>T n.630G>T c.517G>T (p.Val173Phe) | dbSNP gnomAD v4 |
| 11 | g.62996124C= | CA1978013268 | SLC22A8 | c.790G= (p.Val264=) c.421G= (p.Val141=) n.608G= n.511G= n.630G= c.517G= (p.Val173=) | |
| 11 | g.62996124C>G | CA380982759 | SLC22A8 | c.790G>C (p.Val264Leu) c.421G>C (p.Val141Leu) n.608G>C n.511G>C n.630G>C c.517G>C (p.Val173Leu) | gnomAD v4 |
| 11 | g.62996124C>T | CA223623925 | SLC22A8 | c.790G>A (p.Val264Ile) c.421G>A (p.Val141Ile) n.608G>A n.511G>A n.630G>A c.517G>A (p.Val173Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996125C>A | CA380982760 | SLC22A8 | c.789G>T (p.Leu263Phe) c.420G>T (p.Leu140Phe) n.607G>T n.510G>T n.629G>T c.516G>T (p.Leu172Phe) | |
| 11 | g.62996125C>G | CA380982761 | SLC22A8 | c.789G>C (p.Leu263Phe) c.420G>C (p.Leu140Phe) n.607G>C n.510G>C n.629G>C c.516G>C (p.Leu172Phe) | |
| 11 | g.62996125C>T | CA475140879 | SLC22A8 | c.789G>A (p.Leu263=) c.420G>A (p.Leu140=) n.607G>A n.510G>A n.629G>A c.516G>A (p.Leu172=) | gnomAD v4 |
| 11 | g.62996126A>C | CA380982762 | SLC22A8 | c.788T>G (p.Leu263Trp) c.419T>G (p.Leu140Trp) n.606T>G n.509T>G n.628T>G c.515T>G (p.Leu172Trp) | |
| 11 | g.62996126A>G | CA380982763 | SLC22A8 | c.788T>C (p.Leu263Ser) c.419T>C (p.Leu140Ser) n.606T>C n.509T>C n.628T>C c.515T>C (p.Leu172Ser) | |
| 11 | g.62996126A>T | CA380982764 | SLC22A8 | c.788T>A (p.Leu263Ter) c.419T>A (p.Leu140Ter) n.606T>A n.509T>A n.628T>A c.515T>A (p.Leu172Ter) | |
| 11 | g.62996127A>C | CA380982765 | SLC22A8 | c.787T>G (p.Leu263Val) c.418T>G (p.Leu140Val) n.605T>G n.508T>G n.627T>G c.514T>G (p.Leu172Val) | |
| 11 | g.62996127A>G | CA475140880 | SLC22A8 | c.787T>C (p.Leu263=) c.418T>C (p.Leu140=) n.605T>C n.508T>C n.627T>C c.514T>C (p.Leu172=) | |
| 11 | g.62996127A>T | CA380982766 | SLC22A8 | c.787T>A (p.Leu263Met) c.418T>A (p.Leu140Met) n.605T>A n.508T>A n.627T>A c.514T>A (p.Leu172Met) | |
| 11 | g.62996128C>A | CA380982767 | SLC22A8 | c.786G>T (p.Trp262Cys) c.417G>T (p.Trp139Cys) n.604G>T n.507G>T n.626G>T c.513G>T (p.Trp171Cys) | |
| 11 | g.62996128C>G | CA380982768 | SLC22A8 | c.786G>C (p.Trp262Cys) c.417G>C (p.Trp139Cys) n.604G>C n.507G>C n.626G>C c.513G>C (p.Trp171Cys) | |
| 11 | g.62996128C>T | CA380982769 | SLC22A8 | c.786G>A (p.Trp262Ter) c.417G>A (p.Trp139Ter) n.604G>A n.507G>A n.626G>A c.513G>A (p.Trp171Ter) | |
| 11 | g.62996129C>A | CA380982770 | SLC22A8 | c.785G>T (p.Trp262Leu) c.416G>T (p.Trp139Leu) n.603G>T n.506G>T n.625G>T c.512G>T (p.Trp171Leu) | |
| 11 | g.62996129C>G | CA380982772 | SLC22A8 | c.785G>C (p.Trp262Ser) c.416G>C (p.Trp139Ser) n.603G>C n.506G>C n.625G>C c.512G>C (p.Trp171Ser) | gnomAD v4 |
| 11 | g.62996129C>T | CA380982774 | SLC22A8 | c.785G>A (p.Trp262Ter) c.416G>A (p.Trp139Ter) n.603G>A n.506G>A n.625G>A c.512G>A (p.Trp171Ter) | |
| 11 | g.62996130A>C | CA380982780 | SLC22A8 | c.784T>G (p.Trp262Gly) c.415T>G (p.Trp139Gly) n.602T>G n.505T>G n.624T>G c.511T>G (p.Trp171Gly) | |
| 11 | g.62996130A>G | CA380982778 | SLC22A8 | c.784T>C (p.Trp262Arg) c.415T>C (p.Trp139Arg) n.602T>C n.505T>C n.624T>C c.511T>C (p.Trp171Arg) | |
| 11 | g.62996130A>T | CA380982776 | SLC22A8 | c.784T>A (p.Trp262Arg) c.415T>A (p.Trp139Arg) n.602T>A n.505T>A n.624T>A c.511T>A (p.Trp171Arg) | |
| 11 | g.62996131G>A | CA475140882 | SLC22A8 | c.783C>T (p.Arg261=) c.414C>T (p.Arg138=) n.601C>T n.504C>T n.623C>T c.510C>T (p.Arg170=) | |
| 11 | g.62996131G>C | CA475140883 | SLC22A8 | c.783C>G (p.Arg261=) c.414C>G (p.Arg138=) n.601C>G n.504C>G n.623C>G c.510C>G (p.Arg170=) | |
| 11 | g.62996131G>T | CA475140881 | SLC22A8 | c.783C>A (p.Arg261=) c.414C>A (p.Arg138=) n.601C>A n.504C>A n.623C>A c.510C>A (p.Arg170=) | |
| 11 | g.62996132C>A | CA380982782 | SLC22A8 | c.782G>T (p.Arg261Leu) c.413G>T (p.Arg138Leu) n.600G>T n.503G>T n.622G>T c.509G>T (p.Arg170Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62996132C= | CA1978013270 | SLC22A8 | c.782G= (p.Arg261=) c.413G= (p.Arg138=) n.600G= n.503G= n.622G= c.509G= (p.Arg170=) | |
| 11 | g.62996132C>G | CA380982783 | SLC22A8 | c.782G>C (p.Arg261Pro) c.413G>C (p.Arg138Pro) n.600G>C n.503G>C n.622G>C c.509G>C (p.Arg170Pro) | |
| 11 | g.62996132C>T | CA223623929 | SLC22A8 | c.782G>A (p.Arg261His) c.413G>A (p.Arg138His) n.600G>A n.503G>A n.622G>A c.509G>A (p.Arg170His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996133G>A | CA6059833 | SLC22A8 | c.781C>T (p.Arg261Cys) c.412C>T (p.Arg138Cys) n.599C>T n.502C>T n.621C>T c.508C>T (p.Arg170Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62996133G>C | CA380982786 | SLC22A8 | c.781C>G (p.Arg261Gly) c.412C>G (p.Arg138Gly) n.599C>G n.502C>G n.621C>G c.508C>G (p.Arg170Gly) | |
| 11 | g.62996133G= | CA1978013273 | SLC22A8 | c.781C= (p.Arg261=) c.412C= (p.Arg138=) n.599C= n.502C= n.621C= c.508C= (p.Arg170=) | |
| 11 | g.62996133G>T | CA6059834 | SLC22A8 | c.781C>A (p.Arg261Ser) c.412C>A (p.Arg138Ser) n.599C>A n.502C>A n.621C>A c.508C>A (p.Arg170Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62996134T>A | CA475140887 | SLC22A8 | c.780A>T (p.Ile260=) c.411A>T (p.Ile137=) n.598A>T n.501A>T n.620A>T c.507A>T (p.Ile169=) | |
| 11 | g.62996134T>C | CA380982787 | SLC22A8 | c.780A>G (p.Ile260Met) c.411A>G (p.Ile137Met) n.598A>G n.501A>G n.620A>G c.507A>G (p.Ile169Met) | dbSNP |
| 11 | g.62996134T>G | CA475140886 | SLC22A8 | c.780A>C (p.Ile260=) c.411A>C (p.Ile137=) n.598A>C n.501A>C n.620A>C c.507A>C (p.Ile169=) | |
| 11 | g.62996134T= | CA1978013275 | SLC22A8 | c.780A= (p.Ile260=) c.411A= (p.Ile137=) n.598A= n.501A= n.620A= c.507A= (p.Ile169=) | |
| 11 | g.62996135A= | CA1978013277 | SLC22A8 | c.779T= (p.Ile260=) c.410T= (p.Ile137=) n.597T= n.500T= n.619T= c.506T= (p.Ile169=) | |
| 11 | g.62996135A>C | CA223623936 | SLC22A8 | c.779T>G (p.Ile260Arg) c.410T>G (p.Ile137Arg) n.597T>G n.500T>G n.619T>G c.506T>G (p.Ile169Arg) | dbSNP |
| 11 | g.62996135A>G | CA380982790 | SLC22A8 | c.779T>C (p.Ile260Thr) c.410T>C (p.Ile137Thr) n.597T>C n.500T>C n.619T>C c.506T>C (p.Ile169Thr) | gnomAD v4 |
| 11 | g.62996135A>T | CA380982792 | SLC22A8 | c.779T>A (p.Ile260Lys) c.410T>A (p.Ile137Lys) n.597T>A n.500T>A n.619T>A c.506T>A (p.Ile169Lys) | |
| 11 | g.62996136T>A | CA380982793 | SLC22A8 | c.778A>T (p.Ile260Leu) c.409A>T (p.Ile137Leu) n.596A>T n.499A>T n.618A>T c.505A>T (p.Ile169Leu) | |
| 11 | g.62996136T>C | CA380982795 | SLC22A8 | c.778A>G (p.Ile260Val) c.409A>G (p.Ile137Val) n.596A>G n.499A>G n.618A>G c.505A>G (p.Ile169Val) | |
| 11 | g.62996136T>G | CA380982796 | SLC22A8 | c.778A>C (p.Ile260Leu) c.409A>C (p.Ile137Leu) n.596A>C n.499A>C n.618A>C c.505A>C (p.Ile169Leu) | |
| 11 | g.62996137G>A | CA475140891 | SLC22A8 | c.777C>T (p.Ser259=) c.408C>T (p.Ser136=) n.595C>T n.498C>T n.617C>T c.504C>T (p.Ser168=) | |
| 11 | g.62996137G>C | CA475140893 | SLC22A8 | c.777C>G (p.Ser259=) c.408C>G (p.Ser136=) n.595C>G n.498C>G n.617C>G c.504C>G (p.Ser168=) | |
| 11 | g.62996137G>T | CA475140892 | SLC22A8 | c.777C>A (p.Ser259=) c.408C>A (p.Ser136=) n.595C>A n.498C>A n.617C>A c.504C>A (p.Ser168=) | |
| 11 | g.62996138G>A | CA380982801 | SLC22A8 | c.776C>T (p.Ser259Phe) c.407C>T (p.Ser136Phe) n.594C>T n.497C>T n.616C>T c.503C>T (p.Ser168Phe) | COSMIC |
| 11 | g.62996138G>C | CA380982798 | SLC22A8 | c.776C>G (p.Ser259Cys) c.407C>G (p.Ser136Cys) n.594C>G n.497C>G n.616C>G c.503C>G (p.Ser168Cys) | |
| 11 | g.62996138G>T | CA380982800 | SLC22A8 | c.776C>A (p.Ser259Tyr) c.407C>A (p.Ser136Tyr) n.594C>A n.497C>A n.616C>A c.503C>A (p.Ser168Tyr) | |
| 11 | g.62996139A= | CA1978013279 | SLC22A8 | c.775T= (p.Ser259=) c.406T= (p.Ser136=) n.593T= n.496T= n.615T= c.502T= (p.Ser168=) | |
| 11 | g.62996139A>C | CA380982802 | SLC22A8 | c.775T>G (p.Ser259Ala) c.406T>G (p.Ser136Ala) n.593T>G n.496T>G n.615T>G c.502T>G (p.Ser168Ala) | dbSNP |
| 11 | g.62996139A>G | CA380982803 | SLC22A8 | c.775T>C (p.Ser259Pro) c.406T>C (p.Ser136Pro) n.593T>C n.496T>C n.615T>C c.502T>C (p.Ser168Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996139A>T | CA380982804 | SLC22A8 | c.775T>A (p.Ser259Thr) c.406T>A (p.Ser136Thr) n.593T>A n.496T>A n.615T>A c.502T>A (p.Ser168Thr) | |
| 11 | g.62996140C>A | CA380982805 | SLC22A8 | c.774G>T (p.Glu258Asp) c.405G>T (p.Glu135Asp) n.592G>T n.495G>T n.614G>T c.501G>T (p.Glu167Asp) | |
| 11 | g.62996140C>G | CA380982806 | SLC22A8 | c.774G>C (p.Glu258Asp) c.405G>C (p.Glu135Asp) n.592G>C n.495G>C n.614G>C c.501G>C (p.Glu167Asp) | |
| 11 | g.62996140C>T | CA475140895 | SLC22A8 | c.774G>A (p.Glu258=) c.405G>A (p.Glu135=) n.592G>A n.495G>A n.614G>A c.501G>A (p.Glu167=) | |
| 11 | g.62996141T>A | CA380982808 | SLC22A8 | c.773A>T (p.Glu258Val) c.404A>T (p.Glu135Val) n.591A>T n.494A>T n.613A>T c.500A>T (p.Glu167Val) | |
| 11 | g.62996141T>C | CA380982810 | SLC22A8 | c.773A>G (p.Glu258Gly) c.404A>G (p.Glu135Gly) n.591A>G n.494A>G n.613A>G c.500A>G (p.Glu167Gly) | |
| 11 | g.62996141T>G | CA380982811 | SLC22A8 | c.773A>C (p.Glu258Ala) c.404A>C (p.Glu135Ala) n.591A>C n.494A>C n.613A>C c.500A>C (p.Glu167Ala) | |
| 11 | g.62996142C>A | CA380982812 | SLC22A8 | c.772G>T (p.Glu258Ter) c.403G>T (p.Glu135Ter) n.590G>T n.493G>T n.612G>T c.499G>T (p.Glu167Ter) | COSMIC |
| 11 | g.62996142C>G | CA380982814 | SLC22A8 | c.772G>C (p.Glu258Gln) c.403G>C (p.Glu135Gln) n.590G>C n.493G>C n.612G>C c.499G>C (p.Glu167Gln) | |
| 11 | g.62996142C>T | CA380982817 | SLC22A8 | c.772G>A (p.Glu258Lys) c.403G>A (p.Glu135Lys) n.590G>A n.493G>A n.612G>A c.499G>A (p.Glu167Lys) | |
| 11 | g.62996143T>A | CA475140896 | SLC22A8 | c.771A>T (p.Pro257=) c.402A>T (p.Pro134=) n.589A>T n.492A>T n.611A>T c.498A>T (p.Pro166=) | |
| 11 | g.62996143T>C | CA475140897 | SLC22A8 | c.771A>G (p.Pro257=) c.402A>G (p.Pro134=) n.589A>G n.492A>G n.611A>G c.498A>G (p.Pro166=) | |
| 11 | g.62996143T>G | CA475140898 | SLC22A8 | c.771A>C (p.Pro257=) c.402A>C (p.Pro134=) n.589A>C n.492A>C n.611A>C c.498A>C (p.Pro166=) | |
| 11 | g.62996144G>A | CA380982823 | SLC22A8 | c.770C>T (p.Pro257Leu) c.401C>T (p.Pro134Leu) n.588C>T n.491C>T n.610C>T c.497C>T (p.Pro166Leu) | |
| 11 | g.62996144G>C | CA380982821 | SLC22A8 | c.770C>G (p.Pro257Arg) c.401C>G (p.Pro134Arg) n.588C>G n.491C>G n.610C>G c.497C>G (p.Pro166Arg) | |
| 11 | g.62996144G>T | CA380982819 | SLC22A8 | c.770C>A (p.Pro257Gln) c.401C>A (p.Pro134Gln) n.588C>A n.491C>A n.610C>A c.497C>A (p.Pro166Gln) | |
| 11 | g.62996145G>A | CA380982825 | SLC22A8 | c.769C>T (p.Pro257Ser) c.400C>T (p.Pro134Ser) n.587C>T n.490C>T n.609C>T c.496C>T (p.Pro166Ser) | dbSNP gnomAD v2 |
| 11 | g.62996145G>C | CA380982829 | SLC22A8 | c.769C>G (p.Pro257Ala) c.400C>G (p.Pro134Ala) n.587C>G n.490C>G n.609C>G c.496C>G (p.Pro166Ala) | |
| 11 | g.62996145G= | CA1978013280 | SLC22A8 | c.769C= (p.Pro257=) c.400C= (p.Pro134=) n.587C= n.490C= n.609C= c.496C= (p.Pro166=) | |
| 11 | g.62996145G>T | CA380982826 | SLC22A8 | c.769C>A (p.Pro257Thr) c.400C>A (p.Pro134Thr) n.587C>A n.490C>A n.609C>A c.496C>A (p.Pro166Thr) | |
| 11 | g.62996146T>A | CA475140902 | SLC22A8 | c.768A>T (p.Thr256=) c.399A>T (p.Thr133=) n.586A>T n.489A>T n.608A>T c.495A>T (p.Thr165=) | gnomAD v4 |
| 11 | g.62996146T>C | CA475140903 | SLC22A8 | c.768A>G (p.Thr256=) c.399A>G (p.Thr133=) n.586A>G n.489A>G n.608A>G c.495A>G (p.Thr165=) | |
| 11 | g.62996146T>G | CA475140904 | SLC22A8 | c.768A>C (p.Thr256=) c.399A>C (p.Thr133=) n.586A>C n.489A>C n.608A>C c.495A>C (p.Thr165=) | |
| 11 | g.62996147G>A | CA380982831 | SLC22A8 | c.767C>T (p.Thr256Ile) c.398C>T (p.Thr133Ile) n.585C>T n.488C>T n.607C>T c.494C>T (p.Thr165Ile) | gnomAD v4 |
| 11 | g.62996147G>C | CA380982837 | SLC22A8 | c.767C>G (p.Thr256Arg) c.398C>G (p.Thr133Arg) n.585C>G n.488C>G n.607C>G c.494C>G (p.Thr165Arg) | |
| 11 | g.62996147G>T | CA380982834 | SLC22A8 | c.767C>A (p.Thr256Lys) c.398C>A (p.Thr133Lys) n.585C>A n.488C>A n.607C>A c.494C>A (p.Thr165Lys) | |
| 11 | g.62996148T>A | CA380982838 | SLC22A8 | c.766A>T (p.Thr256Ser) c.397A>T (p.Thr133Ser) n.584A>T n.487A>T n.606A>T c.493A>T (p.Thr165Ser) | |
| 11 | g.62996148T>C | CA380982842 | SLC22A8 | c.766A>G (p.Thr256Ala) c.397A>G (p.Thr133Ala) n.584A>G n.487A>G n.606A>G c.493A>G (p.Thr165Ala) | |
| 11 | g.62996148T>G | CA380982840 | SLC22A8 | c.766A>C (p.Thr256Pro) c.397A>C (p.Thr133Pro) n.584A>C n.487A>C n.606A>C c.493A>C (p.Thr165Pro) | |
| 11 | g.62996149C>A | CA380982845 | SLC22A8 | c.765G>T (p.Trp255Cys) c.396G>T (p.Trp132Cys) n.583G>T n.486G>T n.605G>T c.492G>T (p.Trp164Cys) | |
| 11 | g.62996149C= | CA1978013282 | SLC22A8 | c.765G= (p.Trp255=) c.396G= (p.Trp132=) n.583G= n.486G= n.605G= c.492G= (p.Trp164=) | |
| 11 | g.62996149C>G | CA380982847 | SLC22A8 | c.765G>C (p.Trp255Cys) c.396G>C (p.Trp132Cys) n.583G>C n.486G>C n.605G>C c.492G>C (p.Trp164Cys) | |
| 11 | g.62996149C>T | CA223623938 | SLC22A8 | c.765G>A (p.Trp255Ter) c.396G>A (p.Trp132Ter) n.583G>A n.486G>A n.605G>A c.492G>A (p.Trp164Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |