Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.8604824G>A | CA383817431 | AICDA | c.496C>T (p.Leu166Phe) c.427+391C>T (n.427+391C>T) c.157-487C>T (n.157-487C>T) n.927C>T c.481C>T (p.Leu161Phe) n.938C>T c.511C>T (p.Leu171Phe) c.559C>T (p.Leu187Phe) c.526C>T (p.Leu176Phe) c.423+391C>T c.153-487C>T c.522C>T n.852C>T | COSMIC |
12 | g.8604824G>C | CA383817433 | AICDA | c.496C>G (p.Leu166Val) c.427+391C>G (n.427+391C>G) c.157-487C>G (n.157-487C>G) n.927C>G c.481C>G (p.Leu161Val) n.938C>G c.511C>G (p.Leu171Val) c.559C>G (p.Leu187Val) c.526C>G (p.Leu176Val) c.423+391C>G c.153-487C>G c.522C>G n.852C>G | |
12 | g.8604824G>T | CA383817434 | AICDA | c.496C>A (p.Leu166Ile) c.427+391C>A (n.427+391C>A) c.157-487C>A (n.157-487C>A) n.927C>A c.481C>A (p.Leu161Ile) n.938C>A c.511C>A (p.Leu171Ile) c.559C>A (p.Leu187Ile) c.526C>A (p.Leu176Ile) c.423+391C>A c.153-487C>A c.522C>A n.852C>A | |
12 | g.8604825C>A | CA383817436 | AICDA | c.495G>T (p.Gln165His) c.427+390G>T (n.427+390G>T) c.157-488G>T (n.157-488G>T) n.926G>T c.480G>T (p.Gln160His) n.937G>T c.510G>T (p.Gln170His) c.558G>T (p.Gln186His) c.525G>T (p.Gln175His) c.423+390G>T c.153-488G>T c.521G>T n.851G>T | COSMIC |
12 | g.8604825C>G | CA383817438 | AICDA | c.495G>C (p.Gln165His) c.427+390G>C (n.427+390G>C) c.157-488G>C (n.157-488G>C) n.926G>C c.480G>C (p.Gln160His) n.937G>C c.510G>C (p.Gln170His) c.558G>C (p.Gln186His) c.525G>C (p.Gln175His) c.423+390G>C c.153-488G>C c.521G>C n.851G>C | |
12 | g.8604825C>T | CA478291399 | AICDA | c.495G>A (p.Gln165=) c.427+390G>A (n.427+390G>A) c.157-488G>A (n.157-488G>A) n.926G>A c.480G>A (p.Gln160=) n.937G>A c.510G>A (p.Gln170=) c.558G>A (p.Gln186=) c.525G>A (p.Gln175=) c.423+390G>A c.153-488G>A c.521G>A n.851G>A | |
12 | g.8604826T>A | CA383817447 | AICDA | c.494A>T (p.Gln165Leu) c.427+389A>T (n.427+389A>T) c.157-489A>T (n.157-489A>T) n.925A>T c.479A>T (p.Gln160Leu) n.936A>T c.509A>T (p.Gln170Leu) c.557A>T (p.Gln186Leu) c.524A>T (p.Gln175Leu) c.423+389A>T c.153-489A>T c.520A>T n.850A>T | |
12 | g.8604826T>C | CA383817444 | AICDA | c.494A>G (p.Gln165Arg) c.427+389A>G (n.427+389A>G) c.157-489A>G (n.157-489A>G) n.925A>G c.479A>G (p.Gln160Arg) n.936A>G c.509A>G (p.Gln170Arg) c.557A>G (p.Gln186Arg) c.524A>G (p.Gln175Arg) c.423+389A>G c.153-489A>G c.520A>G n.850A>G | |
12 | g.8604826T>G | CA383817441 | AICDA | c.494A>C (p.Gln165Pro) c.427+389A>C (n.427+389A>C) c.157-489A>C (n.157-489A>C) n.925A>C c.479A>C (p.Gln160Pro) n.936A>C c.509A>C (p.Gln170Pro) c.557A>C (p.Gln186Pro) c.524A>C (p.Gln175Pro) c.423+389A>C c.153-489A>C c.520A>C n.850A>C | |
12 | g.8604827_8604849del | CA2725486165 | AICDA | c.472_494del (p.Asn158AlafsTer10) c.427+367_427+389del (n.427+367_427+389del) c.157-511_157-489del (n.157-511_157-489del) n.903_925del c.457_479del (p.Asn153AlafsTer10) n.914_936del c.487_509del (p.Asn163AlafsTer10) c.535_557del (p.Asn179AlafsTer10) c.502_524del (p.Asn168AlafsTer10) c.423+367_423+389del c.153-511_153-489del c.498_520del n.828_850del | dbSNP |
12 | g.8604827G>A | CA383817449 | AICDA | c.493C>T (p.Gln165Ter) c.427+388C>T (n.427+388C>T) c.157-490C>T (n.157-490C>T) n.924C>T c.478C>T (p.Gln160Ter) n.935C>T c.508C>T (p.Gln170Ter) c.556C>T (p.Gln186Ter) c.523C>T (p.Gln175Ter) c.423+388C>T c.153-490C>T c.519C>T n.849C>T | |
12 | g.8604827G>C | CA383817454 | AICDA | c.493C>G (p.Gln165Glu) c.427+388C>G (n.427+388C>G) c.157-490C>G (n.157-490C>G) n.924C>G c.478C>G (p.Gln160Glu) n.935C>G c.508C>G (p.Gln170Glu) c.556C>G (p.Gln186Glu) c.523C>G (p.Gln175Glu) c.423+388C>G c.153-490C>G c.519C>G n.849C>G | |
12 | g.8604827G>T | CA383817452 | AICDA | c.493C>A (p.Gln165Lys) c.427+388C>A (n.427+388C>A) c.157-490C>A (n.157-490C>A) n.924C>A c.478C>A (p.Gln160Lys) n.935C>A c.508C>A (p.Gln170Lys) c.556C>A (p.Gln186Lys) c.523C>A (p.Gln175Lys) c.423+388C>A c.153-490C>A c.519C>A n.849C>A | |
12 | g.8604828T>A | CA383817458 | AICDA | c.492A>T (p.Arg164Ser) c.427+387A>T (n.427+387A>T) c.157-491A>T (n.157-491A>T) n.923A>T c.477A>T (p.Arg159Ser) n.934A>T c.507A>T (p.Arg169Ser) c.555A>T (p.Arg185Ser) c.522A>T (p.Arg174Ser) c.423+387A>T c.153-491A>T c.518A>T n.848A>T | |
12 | g.8604828T>C | CA6434358 | AICDA | c.492A>G (p.Arg164=) c.427+387A>G (n.427+387A>G) c.157-491A>G (n.157-491A>G) n.923A>G c.477A>G (p.Arg159=) n.934A>G c.507A>G (p.Arg169=) c.555A>G (p.Arg185=) c.522A>G (p.Arg174=) c.423+387A>G c.153-491A>G c.518A>G n.848A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.8604828T>G | CA383817461 | AICDA | c.492A>C (p.Arg164Ser) c.427+387A>C (n.427+387A>C) c.157-491A>C (n.157-491A>C) n.923A>C c.477A>C (p.Arg159Ser) n.934A>C c.507A>C (p.Arg169Ser) c.555A>C (p.Arg185Ser) c.522A>C (p.Arg174Ser) c.423+387A>C c.153-491A>C c.518A>C n.848A>C | |
12 | g.8604828T= | CA2015109727 | AICDA | c.492A= (p.Arg164=) c.427+387A= (n.427+387A=) c.157-491A= (n.157-491A=) n.923A= c.477A= (p.Arg159=) n.934A= c.507A= (p.Arg169=) c.555A= (p.Arg185=) c.522A= (p.Arg174=) c.423+387A= c.153-491A= c.518A= n.848A= | |
12 | g.8604829C>A | CA383817464 | AICDA | c.491G>T (p.Arg164Ile) c.427+386G>T (n.427+386G>T) c.157-492G>T (n.157-492G>T) n.922G>T c.476G>T (p.Arg159Ile) n.933G>T c.506G>T (p.Arg169Ile) c.554G>T (p.Arg185Ile) c.521G>T (p.Arg174Ile) c.423+386G>T c.153-492G>T c.517G>T n.847G>T | |
12 | g.8604829C= | CA2015109729 | AICDA | c.491G= (p.Arg164=) c.427+386G= (n.427+386G=) c.157-492G= (n.157-492G=) n.922G= c.476G= (p.Arg159=) n.933G= c.506G= (p.Arg169=) c.554G= (p.Arg185=) c.521G= (p.Arg174=) c.423+386G= c.153-492G= c.517G= n.847G= | |
12 | g.8604829C>G | CA383817466 | AICDA | c.491G>C (p.Arg164Thr) c.427+386G>C (n.427+386G>C) c.157-492G>C (n.157-492G>C) n.922G>C c.476G>C (p.Arg159Thr) n.933G>C c.506G>C (p.Arg169Thr) c.554G>C (p.Arg185Thr) c.521G>C (p.Arg174Thr) c.423+386G>C c.153-492G>C c.517G>C n.847G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.8604829C>T | CA383817468 | AICDA | c.491G>A (p.Arg164Lys) c.427+386G>A (n.427+386G>A) c.157-492G>A (n.157-492G>A) n.922G>A c.476G>A (p.Arg159Lys) n.933G>A c.506G>A (p.Arg169Lys) c.554G>A (p.Arg185Lys) c.521G>A (p.Arg174Lys) c.423+386G>A c.153-492G>A c.517G>A n.847G>A | dbSNP |
12 | g.8604830T>A | CA383817471 | AICDA | c.490A>T (p.Arg164Ter) c.427+385A>T (n.427+385A>T) c.157-493A>T (n.157-493A>T) n.921A>T c.475A>T (p.Arg159Ter) n.932A>T c.505A>T (p.Arg169Ter) c.553A>T (p.Arg185Ter) c.520A>T (p.Arg174Ter) c.423+385A>T c.153-493A>T c.516A>T n.846A>T | |
12 | g.8604830T>C | CA383817474 | AICDA | c.490A>G (p.Arg164Gly) c.427+385A>G (n.427+385A>G) c.157-493A>G (n.157-493A>G) n.921A>G c.475A>G (p.Arg159Gly) n.932A>G c.505A>G (p.Arg169Gly) c.553A>G (p.Arg185Gly) c.520A>G (p.Arg174Gly) c.423+385A>G c.153-493A>G c.516A>G n.846A>G | |
12 | g.8604830T>G | CA478291419 | AICDA | c.490A>C (p.Arg164=) c.427+385A>C (n.427+385A>C) c.157-493A>C (n.157-493A>C) n.921A>C c.475A>C (p.Arg159=) n.932A>C c.505A>C (p.Arg169=) c.553A>C (p.Arg185=) c.520A>C (p.Arg174=) c.423+385A>C c.153-493A>C c.516A>C n.846A>C | |
12 | g.8604831G>A | CA478291421 | AICDA | c.489C>T (p.Ser163=) c.427+384C>T (n.427+384C>T) c.157-494C>T (n.157-494C>T) n.920C>T c.474C>T (p.Ser158=) n.931C>T c.504C>T (p.Ser168=) c.552C>T (p.Ser184=) c.519C>T (p.Ser173=) c.423+384C>T c.153-494C>T c.515C>T n.845C>T | |
12 | g.8604831G>C | CA478291426 | AICDA | c.489C>G (p.Ser163=) c.427+384C>G (n.427+384C>G) c.157-494C>G (n.157-494C>G) n.920C>G c.474C>G (p.Ser158=) n.931C>G c.504C>G (p.Ser168=) c.552C>G (p.Ser184=) c.519C>G (p.Ser173=) c.423+384C>G c.153-494C>G c.515C>G n.845C>G | |
12 | g.8604831G>T | CA478291424 | AICDA | c.489C>A (p.Ser163=) c.427+384C>A (n.427+384C>A) c.157-494C>A (n.157-494C>A) n.920C>A c.474C>A (p.Ser158=) n.931C>A c.504C>A (p.Ser168=) c.552C>A (p.Ser184=) c.519C>A (p.Ser173=) c.423+384C>A c.153-494C>A c.515C>A n.845C>A | |
12 | g.8604832G>A | CA383817477 | AICDA | c.488C>T (p.Ser163Phe) c.427+383C>T (n.427+383C>T) c.157-495C>T (n.157-495C>T) n.919C>T c.473C>T (p.Ser158Phe) n.930C>T c.503C>T (p.Ser168Phe) c.551C>T (p.Ser184Phe) c.518C>T (p.Ser173Phe) c.423+383C>T c.153-495C>T c.514C>T n.844C>T | gnomAD v4 |
12 | g.8604832G>C | CA383817479 | AICDA | c.488C>G (p.Ser163Cys) c.427+383C>G (n.427+383C>G) c.157-495C>G (n.157-495C>G) n.919C>G c.473C>G (p.Ser158Cys) n.930C>G c.503C>G (p.Ser168Cys) c.551C>G (p.Ser184Cys) c.518C>G (p.Ser173Cys) c.423+383C>G c.153-495C>G c.514C>G n.844C>G | |
12 | g.8604832G>T | CA383817483 | AICDA | c.488C>A (p.Ser163Tyr) c.427+383C>A (n.427+383C>A) c.157-495C>A (n.157-495C>A) n.919C>A c.473C>A (p.Ser158Tyr) n.930C>A c.503C>A (p.Ser168Tyr) c.551C>A (p.Ser184Tyr) c.518C>A (p.Ser173Tyr) c.423+383C>A c.153-495C>A c.514C>A n.844C>A | |
12 | g.8604833A= | CA2015109732 | AICDA | c.487T= (p.Ser163=) c.427+382T= (n.427+382T=) c.157-496T= (n.157-496T=) n.918T= c.472T= (p.Ser158=) n.929T= c.502T= (p.Ser168=) c.550T= (p.Ser184=) c.517T= (p.Ser173=) c.423+382T= c.153-496T= c.513T= n.843T= | |
12 | g.8604833A>C | CA6434359 | AICDA | c.487T>G (p.Ser163Ala) c.427+382T>G (n.427+382T>G) c.157-496T>G (n.157-496T>G) n.918T>G c.472T>G (p.Ser158Ala) n.929T>G c.502T>G (p.Ser168Ala) c.550T>G (p.Ser184Ala) c.517T>G (p.Ser173Ala) c.423+382T>G c.153-496T>G c.513T>G n.843T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.8604833A>G | CA383817487 | AICDA | c.487T>C (p.Ser163Pro) c.427+382T>C (n.427+382T>C) c.157-496T>C (n.157-496T>C) n.918T>C c.472T>C (p.Ser158Pro) n.929T>C c.502T>C (p.Ser168Pro) c.550T>C (p.Ser184Pro) c.517T>C (p.Ser173Pro) c.423+382T>C c.153-496T>C c.513T>C n.843T>C | |
12 | g.8604833A>T | CA383817484 | AICDA | c.487T>A (p.Ser163Thr) c.427+382T>A (n.427+382T>A) c.157-496T>A (n.157-496T>A) n.918T>A c.472T>A (p.Ser158Thr) n.929T>A c.502T>A (p.Ser168Thr) c.550T>A (p.Ser184Thr) c.517T>A (p.Ser173Thr) c.423+382T>A c.153-496T>A c.513T>A n.843T>A | |
12 | g.8604834G>A | CA478291437 | AICDA | c.486C>T (p.Leu162=) c.427+381C>T (n.427+381C>T) c.157-497C>T (n.157-497C>T) n.917C>T c.471C>T (p.Leu157=) n.928C>T c.501C>T (p.Leu167=) c.549C>T (p.Leu183=) c.516C>T (p.Leu172=) c.423+381C>T c.153-497C>T c.512C>T n.842C>T | gnomAD v4 |
12 | g.8604834G>C | CA478291439 | AICDA | c.486C>G (p.Leu162=) c.427+381C>G (n.427+381C>G) c.157-497C>G (n.157-497C>G) n.917C>G c.471C>G (p.Leu157=) n.928C>G c.501C>G (p.Leu167=) c.549C>G (p.Leu183=) c.516C>G (p.Leu172=) c.423+381C>G c.153-497C>G c.512C>G n.842C>G | |
12 | g.8604834G>T | CA478291441 | AICDA | c.486C>A (p.Leu162=) c.427+381C>A (n.427+381C>A) c.157-497C>A (n.157-497C>A) n.917C>A c.471C>A (p.Leu157=) n.928C>A c.501C>A (p.Leu167=) c.549C>A (p.Leu183=) c.516C>A (p.Leu172=) c.423+381C>A c.153-497C>A c.512C>A n.842C>A | |
12 | g.8604835A>C | CA383817493 | AICDA | c.485T>G (p.Leu162Arg) c.427+380T>G (n.427+380T>G) c.157-498T>G (n.157-498T>G) n.916T>G c.470T>G (p.Leu157Arg) n.927T>G c.500T>G (p.Leu167Arg) c.548T>G (p.Leu183Arg) c.515T>G (p.Leu172Arg) c.423+380T>G c.153-498T>G c.511T>G n.841T>G | |
12 | g.8604835A>G | CA383817496 | AICDA | c.485T>C (p.Leu162Pro) c.427+380T>C (n.427+380T>C) c.157-498T>C (n.157-498T>C) n.916T>C c.470T>C (p.Leu157Pro) n.927T>C c.500T>C (p.Leu167Pro) c.548T>C (p.Leu183Pro) c.515T>C (p.Leu172Pro) c.423+380T>C c.153-498T>C c.511T>C n.841T>C | |
12 | g.8604835A>T | CA383817502 | AICDA | c.485T>A (p.Leu162His) c.427+380T>A (n.427+380T>A) c.157-498T>A (n.157-498T>A) n.916T>A c.470T>A (p.Leu157His) n.927T>A c.500T>A (p.Leu167His) c.548T>A (p.Leu183His) c.515T>A (p.Leu172His) c.423+380T>A c.153-498T>A c.511T>A n.841T>A | |
12 | g.8604836G>A | CA6434360 | AICDA | c.484C>T (p.Leu162Phe) c.427+379C>T (n.427+379C>T) c.157-499C>T (n.157-499C>T) n.915C>T c.469C>T (p.Leu157Phe) n.926C>T c.499C>T (p.Leu167Phe) c.547C>T (p.Leu183Phe) c.514C>T (p.Leu172Phe) c.423+379C>T c.153-499C>T c.510C>T n.840C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.8604836G>C | CA383817506 | AICDA | c.484C>G (p.Leu162Val) c.427+379C>G (n.427+379C>G) c.157-499C>G (n.157-499C>G) n.915C>G c.469C>G (p.Leu157Val) n.926C>G c.499C>G (p.Leu167Val) c.547C>G (p.Leu183Val) c.514C>G (p.Leu172Val) c.423+379C>G c.153-499C>G c.510C>G n.840C>G | |
12 | g.8604836G= | CA2015109735 | AICDA | c.484C= (p.Leu162=) c.427+379C= (n.427+379C=) c.157-499C= (n.157-499C=) n.915C= c.469C= (p.Leu157=) n.926C= c.499C= (p.Leu167=) c.547C= (p.Leu183=) c.514C= (p.Leu172=) c.423+379C= c.153-499C= c.510C= n.840C= | |
12 | g.8604836G>T | CA383817509 | AICDA | c.484C>A (p.Leu162Ile) c.427+379C>A (n.427+379C>A) c.157-499C>A (n.157-499C>A) n.915C>A c.469C>A (p.Leu157Ile) n.926C>A c.499C>A (p.Leu167Ile) c.547C>A (p.Leu183Ile) c.514C>A (p.Leu172Ile) c.423+379C>A c.153-499C>A c.510C>A n.840C>A | |
12 | g.8604837A>C | CA478291466 | AICDA | c.483T>G (p.Arg161=) c.427+378T>G (n.427+378T>G) c.157-500T>G (n.157-500T>G) n.914T>G c.468T>G (p.Arg156=) n.925T>G c.498T>G (p.Arg166=) c.546T>G (p.Arg182=) c.513T>G (p.Arg171=) c.423+378T>G c.153-500T>G c.509T>G n.839T>G | |
12 | g.8604837A>G | CA478291468 | AICDA | c.483T>C (p.Arg161=) c.427+378T>C (n.427+378T>C) c.157-500T>C (n.157-500T>C) n.914T>C c.468T>C (p.Arg156=) n.925T>C c.498T>C (p.Arg166=) c.546T>C (p.Arg182=) c.513T>C (p.Arg171=) c.423+378T>C c.153-500T>C c.509T>C n.839T>C | |
12 | g.8604837A>T | CA478291470 | AICDA | c.483T>A (p.Arg161=) c.427+378T>A (n.427+378T>A) c.157-500T>A (n.157-500T>A) n.914T>A c.468T>A (p.Arg156=) n.925T>A c.498T>A (p.Arg166=) c.546T>A (p.Arg182=) c.513T>A (p.Arg171=) c.423+378T>A c.153-500T>A c.509T>A n.839T>A | |
12 | g.8604837_8604838del | CA2617496423 | AICDA | c.482_483del (p.Arg161ProfsTer14) c.427+377_427+378del (n.427+377_427+378del) c.157-501_157-500del (n.157-501_157-500del) n.913_914del c.467_468del (p.Arg156ProfsTer14) n.924_925del c.497_498del (p.Arg166ProfsTer14) c.545_546del (p.Arg182ProfsTer14) c.512_513del (p.Arg171ProfsTer14) c.423+377_423+378del c.153-501_153-500del c.508_509del n.838_839del | gnomAD v4 |
12 | g.8604838C>A | CA383817512 | AICDA | c.482G>T (p.Arg161Leu) c.427+377G>T (n.427+377G>T) c.157-501G>T (n.157-501G>T) n.913G>T c.467G>T (p.Arg156Leu) n.924G>T c.497G>T (p.Arg166Leu) c.545G>T (p.Arg182Leu) c.512G>T (p.Arg171Leu) c.423+377G>T c.153-501G>T c.508G>T n.838G>T | |
12 | g.8604838C= | CA2015109738 | AICDA | c.482G= (p.Arg161=) c.427+377G= (n.427+377G=) c.157-501G= (n.157-501G=) n.913G= c.467G= (p.Arg156=) n.924G= c.497G= (p.Arg166=) c.545G= (p.Arg182=) c.512G= (p.Arg171=) c.423+377G= c.153-501G= c.508G= n.838G= |