| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.19197545A= | CA2326726707 | RFXANK | c.362A= (p.Asp121=) c.293A= (p.Asp98=) c.296A= (p.Asp99=) c.191A= (p.Asp64=) n.555A= n.291A= n.770A= c.359A= (p.Asp120=) | |
| 19 | g.19197545A>C | CA404894481 | RFXANK | c.362A>C (p.Asp121Ala) c.293A>C (p.Asp98Ala) c.296A>C (p.Asp99Ala) c.191A>C (p.Asp64Ala) n.555A>C n.291A>C n.770A>C c.359A>C (p.Asp120Ala) | |
| 19 | g.19197545A>G | CA404894483 | RFXANK | c.362A>G (p.Asp121Gly) c.293A>G (p.Asp98Gly) c.296A>G (p.Asp99Gly) c.191A>G (p.Asp64Gly) n.555A>G n.291A>G n.770A>G c.359A>G (p.Asp120Gly) | |
| 19 | g.19197545A>T | CA118365 | RFXANK | c.362A>T (p.Asp121Val) c.293A>T (p.Asp98Val) c.296A>T (p.Asp99Val) c.191A>T (p.Asp64Val) n.555A>T n.291A>T n.770A>T c.359A>T (p.Asp120Val) | ClinVar dbSNP |
| 19 | g.19197546C>A | CA404894490 | RFXANK | c.363C>A (p.Asp121Glu) c.294C>A (p.Asp98Glu) c.297C>A (p.Asp99Glu) c.192C>A (p.Asp64Glu) n.556C>A n.292C>A n.771C>A c.360C>A (p.Asp120Glu) | |
| 19 | g.19197546C= | CA2326726708 | RFXANK | c.363C= (p.Asp121=) c.294C= (p.Asp98=) c.297C= (p.Asp99=) c.192C= (p.Asp64=) n.556C= n.292C= n.771C= c.360C= (p.Asp120=) | |
| 19 | g.19197546C>G | CA404894492 | RFXANK | c.363C>G (p.Asp121Glu) c.294C>G (p.Asp98Glu) c.297C>G (p.Asp99Glu) c.192C>G (p.Asp64Glu) n.556C>G n.292C>G n.771C>G c.360C>G (p.Asp120Glu) | gnomAD v4 |
| 19 | g.19197546C>T | CA9322719 | RFXANK | c.363C>T (p.Asp121=) c.294C>T (p.Asp98=) c.297C>T (p.Asp99=) c.192C>T (p.Asp64=) n.556C>T n.292C>T n.771C>T c.360C>T (p.Asp120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.19197547G>A | CA9322720 | RFXANK | c.364G>A (p.Glu122Lys) c.295G>A (p.Glu99Lys) c.298G>A (p.Glu100Lys) c.193G>A (p.Glu65Lys) n.557G>A n.293G>A n.772G>A c.361G>A (p.Glu121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19197547G>C | CA404894500 | RFXANK | c.364G>C (p.Glu122Gln) c.295G>C (p.Glu99Gln) c.298G>C (p.Glu100Gln) c.193G>C (p.Glu65Gln) n.557G>C n.293G>C n.772G>C c.361G>C (p.Glu121Gln) | |
| 19 | g.19197547G= | CA2326726709 | RFXANK | c.364G= (p.Glu122=) c.295G= (p.Glu99=) c.298G= (p.Glu100=) c.193G= (p.Glu65=) n.557G= n.293G= n.772G= c.361G= (p.Glu121=) | |
| 19 | g.19197547G>T | CA404894496 | RFXANK | c.364G>T (p.Glu122Ter) c.295G>T (p.Glu99Ter) c.298G>T (p.Glu100Ter) c.193G>T (p.Glu65Ter) n.557G>T n.293G>T n.772G>T c.361G>T (p.Glu121Ter) | |
| 19 | g.19197548A>C | CA404894505 | RFXANK | c.365A>C (p.Glu122Ala) c.296A>C (p.Glu99Ala) c.299A>C (p.Glu100Ala) c.194A>C (p.Glu65Ala) n.558A>C n.294A>C n.773A>C c.362A>C (p.Glu121Ala) | |
| 19 | g.19197548A>G | CA404894503 | RFXANK | c.365A>G (p.Glu122Gly) c.296A>G (p.Glu99Gly) c.299A>G (p.Glu100Gly) c.194A>G (p.Glu65Gly) n.558A>G n.294A>G n.773A>G c.362A>G (p.Glu121Gly) | |
| 19 | g.19197548A>T | CA404894508 | RFXANK | c.365A>T (p.Glu122Val) c.296A>T (p.Glu99Val) c.299A>T (p.Glu100Val) c.194A>T (p.Glu65Val) n.558A>T n.294A>T n.773A>T c.362A>T (p.Glu121Val) | |
| 19 | g.19197549G>A | CA506125356 | RFXANK | c.366G>A (p.Glu122=) c.297G>A (p.Glu99=) c.300G>A (p.Glu100=) c.195G>A (p.Glu65=) n.559G>A n.295G>A n.774G>A c.363G>A (p.Glu121=) | gnomAD v4 |
| 19 | g.19197549G>C | CA404894510 | RFXANK | c.366G>C (p.Glu122Asp) c.297G>C (p.Glu99Asp) c.300G>C (p.Glu100Asp) c.195G>C (p.Glu65Asp) n.559G>C n.295G>C n.774G>C c.363G>C (p.Glu121Asp) | |
| 19 | g.19197549G>T | CA404894512 | RFXANK | c.366G>T (p.Glu122Asp) c.297G>T (p.Glu99Asp) c.300G>T (p.Glu100Asp) c.195G>T (p.Glu65Asp) n.559G>T n.295G>T n.774G>T c.363G>T (p.Glu121Asp) | |
| 19 | g.19197550C>A | CA404894515 | RFXANK | c.367C>A (p.Arg123Ser) c.298C>A (p.Arg100Ser) c.301C>A (p.Arg101Ser) c.196C>A (p.Arg66Ser) n.560C>A n.296C>A n.775C>A c.364C>A (p.Arg122Ser) | |
| 19 | g.19197550C= | CA2326726710 | RFXANK | c.367C= (p.Arg123=) c.298C= (p.Arg100=) c.301C= (p.Arg101=) c.196C= (p.Arg66=) n.560C= n.296C= n.775C= c.364C= (p.Arg122=) | |
| 19 | g.19197550C>G | CA404894518 | RFXANK | c.367C>G (p.Arg123Gly) c.298C>G (p.Arg100Gly) c.301C>G (p.Arg101Gly) c.196C>G (p.Arg66Gly) n.560C>G n.296C>G n.775C>G c.364C>G (p.Arg122Gly) | gnomAD v4 |
| 19 | g.19197550C>T | CA9322721 | RFXANK | c.367C>T (p.Arg123Cys) c.298C>T (p.Arg100Cys) c.301C>T (p.Arg101Cys) c.196C>T (p.Arg66Cys) n.560C>T n.296C>T n.775C>T c.364C>T (p.Arg122Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19197551G>A | CA9322722 | RFXANK | c.368G>A (p.Arg123His) c.299G>A (p.Arg100His) c.302G>A (p.Arg101His) c.197G>A (p.Arg66His) n.561G>A n.297G>A n.776G>A c.365G>A (p.Arg122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19197551G>C | CA404894524 | RFXANK | c.368G>C (p.Arg123Pro) c.299G>C (p.Arg100Pro) c.302G>C (p.Arg101Pro) c.197G>C (p.Arg66Pro) n.561G>C n.297G>C n.776G>C c.365G>C (p.Arg122Pro) | |
| 19 | g.19197551G= | CA2326726711 | RFXANK | c.368G= (p.Arg123=) c.299G= (p.Arg100=) c.302G= (p.Arg101=) c.197G= (p.Arg66=) n.561G= n.297G= n.776G= c.365G= (p.Arg122=) | |
| 19 | g.19197551G>T | CA404894527 | RFXANK | c.368G>T (p.Arg123Leu) c.299G>T (p.Arg100Leu) c.302G>T (p.Arg101Leu) c.197G>T (p.Arg66Leu) n.561G>T n.297G>T n.776G>T c.365G>T (p.Arg122Leu) | COSMIC |
| 19 | g.19197552C>A | CA506125357 | RFXANK | c.369C>A (p.Arg123=) c.300C>A (p.Arg100=) c.303C>A (p.Arg101=) c.198C>A (p.Arg66=) n.562C>A n.298C>A n.777C>A c.366C>A (p.Arg122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19197552C= | CA2326726712 | RFXANK | c.369C= (p.Arg123=) c.300C= (p.Arg100=) c.303C= (p.Arg101=) c.198C= (p.Arg66=) n.562C= n.298C= n.777C= c.366C= (p.Arg122=) | |
| 19 | g.19197552C>G | CA506125358 | RFXANK | c.369C>G (p.Arg123=) c.300C>G (p.Arg100=) c.303C>G (p.Arg101=) c.198C>G (p.Arg66=) n.562C>G n.298C>G n.777C>G c.366C>G (p.Arg122=) | gnomAD v4 |
| 19 | g.19197552C>T | CA306277107 | RFXANK | c.369C>T (p.Arg123=) c.300C>T (p.Arg100=) c.303C>T (p.Arg101=) c.198C>T (p.Arg66=) n.562C>T n.298C>T n.777C>T c.366C>T (p.Arg122=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19197553G>A | CA9322723 | RFXANK | c.370G>A (p.Gly124Ser) c.301G>A (p.Gly101Ser) c.304G>A (p.Gly102Ser) c.199G>A (p.Gly67Ser) n.563G>A n.299G>A n.778G>A c.367G>A (p.Gly123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19197553G>C | CA404894536 | RFXANK | c.370G>C (p.Gly124Arg) c.301G>C (p.Gly101Arg) c.304G>C (p.Gly102Arg) c.199G>C (p.Gly67Arg) n.563G>C n.299G>C n.778G>C c.367G>C (p.Gly123Arg) | |
| 19 | g.19197553G= | CA2326726713 | RFXANK | c.370G= (p.Gly124=) c.301G= (p.Gly101=) c.304G= (p.Gly102=) c.199G= (p.Gly67=) n.563G= n.299G= n.778G= c.367G= (p.Gly123=) | |
| 19 | g.19197553G>T | CA404894538 | RFXANK | c.370G>T (p.Gly124Cys) c.301G>T (p.Gly101Cys) c.304G>T (p.Gly102Cys) c.199G>T (p.Gly67Cys) n.563G>T n.299G>T n.778G>T c.367G>T (p.Gly123Cys) | |
| 19 | g.19197554G>A | CA404894542 | RFXANK | c.371G>A (p.Gly124Asp) c.302G>A (p.Gly101Asp) c.305G>A (p.Gly102Asp) c.200G>A (p.Gly67Asp) n.564G>A n.300G>A n.779G>A c.368G>A (p.Gly123Asp) | gnomAD v4 |
| 19 | g.19197554G>C | CA404894544 | RFXANK | c.371G>C (p.Gly124Ala) c.302G>C (p.Gly101Ala) c.305G>C (p.Gly102Ala) c.200G>C (p.Gly67Ala) n.564G>C n.300G>C n.779G>C c.368G>C (p.Gly123Ala) | |
| 19 | g.19197554G>T | CA404894547 | RFXANK | c.371G>T (p.Gly124Val) c.302G>T (p.Gly101Val) c.305G>T (p.Gly102Val) c.200G>T (p.Gly67Val) n.564G>T n.300G>T n.779G>T c.368G>T (p.Gly123Val) | |
| 19 | g.19197555_19197589dup | CA2583682413 | RFXANK | c.372_406dup (p.Glu136AlafsTer?) c.303_337dup (p.Glu113AlafsTer?) c.306_340dup (p.Glu114AlafsTer?) c.201_235dup (p.Glu79AlafsTer?) n.565_599dup n.301_335dup n.780_814dup c.369_403dup (p.Glu135AlafsTer?) | gnomAD v4 |
| 19 | g.19197555C>A | CA506125359 | RFXANK | c.372C>A (p.Gly124=) c.303C>A (p.Gly101=) c.306C>A (p.Gly102=) c.201C>A (p.Gly67=) n.565C>A n.301C>A n.780C>A c.369C>A (p.Gly123=) | |
| 19 | g.19197555C= | CA2326726714 | RFXANK | c.372C= (p.Gly124=) c.303C= (p.Gly101=) c.306C= (p.Gly102=) c.201C= (p.Gly67=) n.565C= n.301C= n.780C= c.369C= (p.Gly123=) | |
| 19 | g.19197555C>G | CA506125360 | RFXANK | c.372C>G (p.Gly124=) c.303C>G (p.Gly101=) c.306C>G (p.Gly102=) c.201C>G (p.Gly67=) n.565C>G n.301C>G n.780C>G c.369C>G (p.Gly123=) | |
| 19 | g.19197555C>T | CA506125361 | RFXANK | c.372C>T (p.Gly124=) c.303C>T (p.Gly101=) c.306C>T (p.Gly102=) c.201C>T (p.Gly67=) n.565C>T n.301C>T n.780C>T c.369C>T (p.Gly123=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.19197556T>A | CA404894562 | RFXANK | c.373T>A (p.Phe125Ile) c.304T>A (p.Phe102Ile) c.307T>A (p.Phe103Ile) c.202T>A (p.Phe68Ile) n.566T>A n.302T>A n.781T>A c.370T>A (p.Phe124Ile) | |
| 19 | g.19197556T>C | CA404894551 | RFXANK | c.373T>C (p.Phe125Leu) c.304T>C (p.Phe102Leu) c.307T>C (p.Phe103Leu) c.202T>C (p.Phe68Leu) n.566T>C n.302T>C n.781T>C c.370T>C (p.Phe124Leu) | |
| 19 | g.19197556T>G | CA404894558 | RFXANK | c.373T>G (p.Phe125Val) c.304T>G (p.Phe102Val) c.307T>G (p.Phe103Val) c.202T>G (p.Phe68Val) n.566T>G n.302T>G n.781T>G c.370T>G (p.Phe124Val) | |
| 19 | g.19197557T>A | CA404894565 | RFXANK | c.374T>A (p.Phe125Tyr) c.305T>A (p.Phe102Tyr) c.308T>A (p.Phe103Tyr) c.203T>A (p.Phe68Tyr) n.567T>A n.303T>A n.782T>A c.371T>A (p.Phe124Tyr) | |
| 19 | g.19197557T>C | CA404894567 | RFXANK | c.374T>C (p.Phe125Ser) c.305T>C (p.Phe102Ser) c.308T>C (p.Phe103Ser) c.203T>C (p.Phe68Ser) n.567T>C n.303T>C n.782T>C c.371T>C (p.Phe124Ser) | |
| 19 | g.19197557T>G | CA404894569 | RFXANK | c.374T>G (p.Phe125Cys) c.305T>G (p.Phe102Cys) c.308T>G (p.Phe103Cys) c.203T>G (p.Phe68Cys) n.567T>G n.303T>G n.782T>G c.371T>G (p.Phe124Cys) | |
| 19 | g.19197558C>A | CA404894576 | RFXANK | c.375C>A (p.Phe125Leu) c.306C>A (p.Phe102Leu) c.309C>A (p.Phe103Leu) c.204C>A (p.Phe68Leu) n.568C>A n.304C>A n.783C>A c.372C>A (p.Phe124Leu) | |
| 19 | g.19197558C>G | CA404894579 | RFXANK | c.375C>G (p.Phe125Leu) c.306C>G (p.Phe102Leu) c.309C>G (p.Phe103Leu) c.204C>G (p.Phe68Leu) n.568C>G n.304C>G n.783C>G c.372C>G (p.Phe124Leu) |