| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127423076C>A | CA348398995 | PROC | c.305C>A (p.Ala102Asp) c.*111C>A (n.*111C>A) n.480C>A c.488C>A (p.Ala163Asp) c.368C>A (p.Ala123Asp) c.548C>A (p.Ala183Asp) c.460C>A (p.Pro154Thr) c.389C>A (p.Ala130Asp) c.281C>A (p.Ala94Asp) c.299C>A (p.Ala100Asp) | |
| 2 | g.127423076C>G | CA348398996 | PROC | c.305C>G (p.Ala102Gly) c.*111C>G (n.*111C>G) n.480C>G c.488C>G (p.Ala163Gly) c.368C>G (p.Ala123Gly) c.548C>G (p.Ala183Gly) c.460C>G (p.Pro154Ala) c.389C>G (p.Ala130Gly) c.281C>G (p.Ala94Gly) c.299C>G (p.Ala100Gly) | |
| 2 | g.127423076C>T | CA348398997 | PROC | c.305C>T (p.Ala102Val) c.*111C>T (n.*111C>T) n.480C>T c.488C>T (p.Ala163Val) c.368C>T (p.Ala123Val) c.548C>T (p.Ala183Val) c.460C>T (p.Pro154Ser) c.389C>T (p.Ala130Val) c.281C>T (p.Ala94Val) c.299C>T (p.Ala100Val) | |
| 2 | g.127423077C>A | CA428873505 | PROC | c.306C>A (p.Ala102=) c.*112C>A (n.*112C>A) n.481C>A c.489C>A (p.Ala163=) c.369C>A (p.Ala123=) c.549C>A (p.Ala183=) c.461C>A (p.Pro154Gln) c.390C>A (p.Ala130=) c.282C>A (p.Ala94=) c.300C>A (p.Ala100=) | |
| 2 | g.127423077C= | CA1286881990 | PROC | c.306C= (p.Ala102=) c.*112C= (n.*112C=) n.481C= c.489C= (p.Ala163=) c.369C= (p.Ala123=) c.549C= (p.Ala183=) c.461C= (p.Pro154=) c.390C= (p.Ala130=) c.282C= (p.Ala94=) c.300C= (p.Ala100=) | |
| 2 | g.127423077C>G | CA428873509 | PROC | c.306C>G (p.Ala102=) c.*112C>G (n.*112C>G) n.481C>G c.489C>G (p.Ala163=) c.369C>G (p.Ala123=) c.549C>G (p.Ala183=) c.461C>G (p.Pro154Arg) c.390C>G (p.Ala130=) c.282C>G (p.Ala94=) c.300C>G (p.Ala100=) | |
| 2 | g.127423077C>T | CA428873507 | PROC | c.306C>T (p.Ala102=) c.*112C>T (n.*112C>T) n.481C>T c.489C>T (p.Ala163=) c.369C>T (p.Ala123=) c.549C>T (p.Ala183=) c.461C>T (p.Pro154Leu) c.390C>T (p.Ala130=) c.282C>T (p.Ala94=) c.300C>T (p.Ala100=) | dbSNP |
| 2 | g.127423078A= | CA1286881991 | PROC | c.307A= (p.Ser103=) c.*113A= (n.*113A=) n.482A= c.490A= (p.Ser164=) c.370A= (p.Ser124=) c.550A= (p.Ser184=) c.462A= (p.Pro154=) c.391A= (p.Ser131=) c.283A= (p.Ser95=) c.301A= (p.Ser101=) | |
| 2 | g.127423078A>C | CA348398998 | PROC | c.307A>C (p.Ser103Arg) c.*113A>C (n.*113A>C) n.482A>C c.490A>C (p.Ser164Arg) c.370A>C (p.Ser124Arg) c.550A>C (p.Ser184Arg) c.462A>C (p.Pro154=) c.391A>C (p.Ser131Arg) c.283A>C (p.Ser95Arg) c.301A>C (p.Ser101Arg) | |
| 2 | g.127423078A>G | CA348399000 | PROC | c.307A>G (p.Ser103Gly) c.*113A>G (n.*113A>G) n.482A>G c.490A>G (p.Ser164Gly) c.370A>G (p.Ser124Gly) c.550A>G (p.Ser184Gly) c.462A>G (p.Pro154=) c.391A>G (p.Ser131Gly) c.283A>G (p.Ser95Gly) c.301A>G (p.Ser101Gly) | dbSNP COSMIC COSMIC |
| 2 | g.127423078A>T | CA348398999 | PROC | c.307A>T (p.Ser103Cys) c.*113A>T (n.*113A>T) n.482A>T c.490A>T (p.Ser164Cys) c.370A>T (p.Ser124Cys) c.550A>T (p.Ser184Cys) c.462A>T (p.Pro154=) c.391A>T (p.Ser131Cys) c.283A>T (p.Ser95Cys) c.301A>T (p.Ser101Cys) | |
| 2 | g.127423079G>A | CA348399001 | PROC | c.308G>A (p.Ser103Asn) c.*114G>A (n.*114G>A) n.483G>A c.491G>A (p.Ser164Asn) c.371G>A (p.Ser124Asn) c.551G>A (p.Ser184Asn) c.463G>A (p.Ala155Thr) c.392G>A (p.Ser131Asn) c.284G>A (p.Ser95Asn) c.302G>A (p.Ser101Asn) | |
| 2 | g.127423079G>C | CA348399003 | PROC | c.308G>C (p.Ser103Thr) c.*114G>C (n.*114G>C) n.483G>C c.491G>C (p.Ser164Thr) c.371G>C (p.Ser124Thr) c.551G>C (p.Ser184Thr) c.463G>C (p.Ala155Pro) c.392G>C (p.Ser131Thr) c.284G>C (p.Ser95Thr) c.302G>C (p.Ser101Thr) | |
| 2 | g.127423079G>T | CA348399002 | PROC | c.308G>T (p.Ser103Ile) c.*114G>T (n.*114G>T) n.483G>T c.491G>T (p.Ser164Ile) c.371G>T (p.Ser124Ile) c.551G>T (p.Ser184Ile) c.463G>T (p.Ala155Ser) c.392G>T (p.Ser131Ile) c.284G>T (p.Ser95Ile) c.302G>T (p.Ser101Ile) | gnomAD v4 |
| 2 | g.127423080C>A | CA348399004 | PROC | c.309C>A (p.Ser103Arg) c.*115C>A (n.*115C>A) n.484C>A c.492C>A (p.Ser164Arg) c.372C>A (p.Ser124Arg) c.552C>A (p.Ser184Arg) c.464C>A (p.Ala155Asp) c.393C>A (p.Ser131Arg) c.285C>A (p.Ser95Arg) c.303C>A (p.Ser101Arg) | gnomAD v4 |
| 2 | g.127423080C= | CA1286881992 | PROC | c.309C= (p.Ser103=) c.*115C= (n.*115C=) n.484C= c.492C= (p.Ser164=) c.372C= (p.Ser124=) c.552C= (p.Ser184=) c.464C= (p.Ala155=) c.393C= (p.Ser131=) c.285C= (p.Ser95=) c.303C= (p.Ser101=) | |
| 2 | g.127423080C>G | CA348399005 | PROC | c.309C>G (p.Ser103Arg) c.*115C>G (n.*115C>G) n.484C>G c.492C>G (p.Ser164Arg) c.372C>G (p.Ser124Arg) c.552C>G (p.Ser184Arg) c.464C>G (p.Ala155Gly) c.393C>G (p.Ser131Arg) c.285C>G (p.Ser95Arg) c.303C>G (p.Ser101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127423080C>T | CA428873551 | PROC | c.309C>T (p.Ser103=) c.*115C>T (n.*115C>T) n.484C>T c.492C>T (p.Ser164=) c.372C>T (p.Ser124=) c.552C>T (p.Ser184=) c.464C>T (p.Ala155Val) c.393C>T (p.Ser131=) c.285C>T (p.Ser95=) c.303C>T (p.Ser101=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127423081C>A | CA348399006 | PROC | c.310C>A (p.Leu104Met) c.*116C>A (n.*116C>A) n.485C>A c.493C>A (p.Leu165Met) c.373C>A (p.Leu125Met) c.553C>A (p.Leu185Met) c.465C>A (p.Ala155=) c.394C>A (p.Leu132Met) c.286C>A (p.Leu96Met) c.304C>A (p.Leu102Met) | |
| 2 | g.127423081C>G | CA348399007 | PROC | c.310C>G (p.Leu104Val) c.*116C>G (n.*116C>G) n.485C>G c.493C>G (p.Leu165Val) c.373C>G (p.Leu125Val) c.553C>G (p.Leu185Val) c.465C>G (p.Ala155=) c.394C>G (p.Leu132Val) c.286C>G (p.Leu96Val) c.304C>G (p.Leu102Val) | |
| 2 | g.127423081C>T | CA428873555 | PROC | c.310C>T (p.Leu104=) c.*116C>T (n.*116C>T) n.485C>T c.493C>T (p.Leu165=) c.373C>T (p.Leu125=) c.553C>T (p.Leu185=) c.465C>T (p.Ala155=) c.394C>T (p.Leu132=) c.286C>T (p.Leu96=) c.304C>T (p.Leu102=) | |
| 2 | g.127423082T>A | CA348399008 | PROC | c.311T>A (p.Leu104Gln) c.*117T>A (n.*117T>A) n.486T>A c.494T>A (p.Leu165Gln) c.374T>A (p.Leu125Gln) c.554T>A (p.Leu185Gln) c.466T>A (p.Cys156Ser) c.395T>A (p.Leu132Gln) c.287T>A (p.Leu96Gln) c.305T>A (p.Leu102Gln) | |
| 2 | g.127423082T>C | CA348399009 | PROC | c.311T>C (p.Leu104Pro) c.*117T>C (n.*117T>C) n.486T>C c.494T>C (p.Leu165Pro) c.374T>C (p.Leu125Pro) c.554T>C (p.Leu185Pro) c.466T>C (p.Cys156Arg) c.395T>C (p.Leu132Pro) c.287T>C (p.Leu96Pro) c.305T>C (p.Leu102Pro) | |
| 2 | g.127423082T>G | CA348399010 | PROC | c.311T>G (p.Leu104Arg) c.*117T>G (n.*117T>G) n.486T>G c.494T>G (p.Leu165Arg) c.374T>G (p.Leu125Arg) c.554T>G (p.Leu185Arg) c.466T>G (p.Cys156Gly) c.395T>G (p.Leu132Arg) c.287T>G (p.Leu96Arg) c.305T>G (p.Leu102Arg) | |
| 2 | g.127423083G>A | CA428873569 | PROC | c.312G>A (p.Leu104=) c.*118G>A (n.*118G>A) n.487G>A c.495G>A (p.Leu165=) c.375G>A (p.Leu125=) c.555G>A (p.Leu185=) c.467G>A (p.Cys156Tyr) c.396G>A (p.Leu132=) c.288G>A (p.Leu96=) c.306G>A (p.Leu102=) | |
| 2 | g.127423083G>C | CA428873572 | PROC | c.312G>C (p.Leu104=) c.*118G>C (n.*118G>C) n.487G>C c.495G>C (p.Leu165=) c.375G>C (p.Leu125=) c.555G>C (p.Leu185=) c.467G>C (p.Cys156Ser) c.396G>C (p.Leu132=) c.288G>C (p.Leu96=) c.306G>C (p.Leu102=) | |
| 2 | g.127423083G>T | CA428873570 | PROC | c.312G>T (p.Leu104=) c.*118G>T (n.*118G>T) n.487G>T c.495G>T (p.Leu165=) c.375G>T (p.Leu125=) c.555G>T (p.Leu185=) c.467G>T (p.Cys156Phe) c.396G>T (p.Leu132=) c.288G>T (p.Leu96=) c.306G>T (p.Leu102=) | |
| 2 | g.127423084T>A | CA348399011 | PROC | c.313T>A (p.Cys105Ser) c.*119T>A (n.*119T>A) n.488T>A c.496T>A (p.Cys166Ser) c.376T>A (p.Cys126Ser) c.556T>A (p.Cys186Ser) c.468T>A (p.Cys156Ter) c.397T>A (p.Cys133Ser) c.289T>A (p.Cys97Ser) c.307T>A (p.Cys103Ser) | |
| 2 | g.127423084T>C | CA348399012 | PROC | c.313T>C (p.Cys105Arg) c.*119T>C (n.*119T>C) n.488T>C c.496T>C (p.Cys166Arg) c.376T>C (p.Cys126Arg) c.556T>C (p.Cys186Arg) c.468T>C (p.Cys156=) c.397T>C (p.Cys133Arg) c.289T>C (p.Cys97Arg) c.307T>C (p.Cys103Arg) | |
| 2 | g.127423084T>G | CA348399013 | PROC | c.313T>G (p.Cys105Gly) c.*119T>G (n.*119T>G) n.488T>G c.496T>G (p.Cys166Gly) c.376T>G (p.Cys126Gly) c.556T>G (p.Cys186Gly) c.468T>G (p.Cys156Trp) c.397T>G (p.Cys133Gly) c.289T>G (p.Cys97Gly) c.307T>G (p.Cys103Gly) | gnomAD v4 |
| 2 | g.127423085G>A | CA348399014 | PROC | c.314G>A (p.Cys105Tyr) c.*120G>A (n.*120G>A) n.489G>A c.497G>A (p.Cys166Tyr) c.377G>A (p.Cys126Tyr) c.557G>A (p.Cys186Tyr) c.469G>A (p.Ala157Thr) c.398G>A (p.Cys133Tyr) c.290G>A (p.Cys97Tyr) c.308G>A (p.Cys103Tyr) | |
| 2 | g.127423085G>C | CA348399015 | PROC | c.314G>C (p.Cys105Ser) c.*120G>C (n.*120G>C) n.489G>C c.497G>C (p.Cys166Ser) c.377G>C (p.Cys126Ser) c.557G>C (p.Cys186Ser) c.469G>C (p.Ala157Pro) c.398G>C (p.Cys133Ser) c.290G>C (p.Cys97Ser) c.308G>C (p.Cys103Ser) | |
| 2 | g.127423085G= | CA1286881993 | PROC | c.314G= (p.Cys105=) c.*120G= (n.*120G=) n.489G= c.497G= (p.Cys166=) c.377G= (p.Cys126=) c.557G= (p.Cys186=) c.469G= (p.Ala157=) c.398G= (p.Cys133=) c.290G= (p.Cys97=) c.308G= (p.Cys103=) | |
| 2 | g.127423085G>T | CA348399016 | PROC | c.314G>T (p.Cys105Phe) c.*120G>T (n.*120G>T) n.489G>T c.497G>T (p.Cys166Phe) c.377G>T (p.Cys126Phe) c.557G>T (p.Cys186Phe) c.469G>T (p.Ala157Ser) c.398G>T (p.Cys133Phe) c.290G>T (p.Cys97Phe) c.308G>T (p.Cys103Phe) | dbSNP gnomAD v2 |
| 2 | g.127423086C>A | CA348399017 | PROC | c.315C>A (p.Cys105Ter) c.*121C>A (n.*121C>A) n.490C>A c.498C>A (p.Cys166Ter) c.378C>A (p.Cys126Ter) c.558C>A (p.Cys186Ter) c.470C>A (p.Ala157Asp) c.399C>A (p.Cys133Ter) c.291C>A (p.Cys97Ter) c.309C>A (p.Cys103Ter) | |
| 2 | g.127423086C= | CA1286881994 | PROC | c.315C= (p.Cys105=) c.*121C= (n.*121C=) n.490C= c.498C= (p.Cys166=) c.378C= (p.Cys126=) c.558C= (p.Cys186=) c.470C= (p.Ala157=) c.399C= (p.Cys133=) c.291C= (p.Cys97=) c.309C= (p.Cys103=) | |
| 2 | g.127423086C>G | CA348399018 | PROC | c.315C>G (p.Cys105Trp) c.*121C>G (n.*121C>G) n.490C>G c.498C>G (p.Cys166Trp) c.378C>G (p.Cys126Trp) c.558C>G (p.Cys186Trp) c.470C>G (p.Ala157Gly) c.399C>G (p.Cys133Trp) c.291C>G (p.Cys97Trp) c.309C>G (p.Cys103Trp) | |
| 2 | g.127423086C>T | CA428873594 | PROC | c.315C>T (p.Cys105=) c.*121C>T (n.*121C>T) n.490C>T c.498C>T (p.Cys166=) c.378C>T (p.Cys126=) c.558C>T (p.Cys186=) c.470C>T (p.Ala157Val) c.399C>T (p.Cys133=) c.291C>T (p.Cys97=) c.309C>T (p.Cys103=) | dbSNP gnomAD v2 |
| 2 | g.127423087T>A | CA348399019 | PROC | c.316T>A (p.Cys106Ser) c.*122T>A (n.*122T>A) n.491T>A c.499T>A (p.Cys167Ser) c.379T>A (p.Cys127Ser) c.559T>A (p.Cys187Ser) c.471T>A (p.Ala157=) c.400T>A (p.Cys134Ser) c.292T>A (p.Cys98Ser) c.310T>A (p.Cys104Ser) | |
| 2 | g.127423087T>C | CA348399020 | PROC | c.316T>C (p.Cys106Arg) c.*122T>C (n.*122T>C) n.491T>C c.499T>C (p.Cys167Arg) c.379T>C (p.Cys127Arg) c.559T>C (p.Cys187Arg) c.471T>C (p.Ala157=) c.400T>C (p.Cys134Arg) c.292T>C (p.Cys98Arg) c.310T>C (p.Cys104Arg) | |
| 2 | g.127423087T>G | CA55345119 | PROC | c.316T>G (p.Cys106Gly) c.*122T>G (n.*122T>G) n.491T>G c.499T>G (p.Cys167Gly) c.379T>G (p.Cys127Gly) c.559T>G (p.Cys187Gly) c.471T>G (p.Ala157=) c.400T>G (p.Cys134Gly) c.292T>G (p.Cys98Gly) c.310T>G (p.Cys104Gly) | dbSNP |
| 2 | g.127423087T= | CA1286881995 | PROC | c.316T= (p.Cys106=) c.*122T= (n.*122T=) n.491T= c.499T= (p.Cys167=) c.379T= (p.Cys127=) c.559T= (p.Cys187=) c.471T= (p.Ala157=) c.400T= (p.Cys134=) c.292T= (p.Cys98=) c.310T= (p.Cys104=) | |
| 2 | g.127423087_127423089delinsGGA | CA2586969849 | PROC | c.316_318delinsGGA (p.Cys106Gly) c.*122_*124delinsGGA (n.*122_*124delinsGGA) n.491_493delinsGGA c.499_501delinsGGA (p.Cys167Gly) c.379_381delinsGGA (p.Cys127Gly) c.559_561delinsGGA (p.Cys187Gly) c.471_473delinsGGA (p.Ala158Glu) c.400_402delinsGGA (p.Cys134Gly) c.292_294delinsGGA (p.Cys98Gly) c.310_312delinsGGA (p.Cys104Gly) | |
| 2 | g.127423088G>A | CA348399021 | PROC | c.317G>A (p.Cys106Tyr) c.*123G>A (n.*123G>A) n.492G>A c.500G>A (p.Cys167Tyr) c.380G>A (p.Cys127Tyr) c.560G>A (p.Cys187Tyr) c.472G>A (p.Ala158Thr) c.401G>A (p.Cys134Tyr) c.293G>A (p.Cys98Tyr) c.311G>A (p.Cys104Tyr) | dbSNP |
| 2 | g.127423088G>C | CA348399022 | PROC | c.317G>C (p.Cys106Ser) c.*123G>C (n.*123G>C) n.492G>C c.500G>C (p.Cys167Ser) c.380G>C (p.Cys127Ser) c.560G>C (p.Cys187Ser) c.472G>C (p.Ala158Pro) c.401G>C (p.Cys134Ser) c.293G>C (p.Cys98Ser) c.311G>C (p.Cys104Ser) | |
| 2 | g.127423088G= | CA1286881996 | PROC | c.317G= (p.Cys106=) c.*123G= (n.*123G=) n.492G= c.500G= (p.Cys167=) c.380G= (p.Cys127=) c.560G= (p.Cys187=) c.472G= (p.Ala158=) c.401G= (p.Cys134=) c.293G= (p.Cys98=) c.311G= (p.Cys104=) | |
| 2 | g.127423088G>T | CA348399023 | PROC | c.317G>T (p.Cys106Phe) c.*123G>T (n.*123G>T) n.492G>T c.500G>T (p.Cys167Phe) c.380G>T (p.Cys127Phe) c.560G>T (p.Cys187Phe) c.472G>T (p.Ala158Ser) c.401G>T (p.Cys134Phe) c.293G>T (p.Cys98Phe) c.311G>T (p.Cys104Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127423089C>A | CA348399024 | PROC | c.318C>A (p.Cys106Ter) c.*124C>A (n.*124C>A) n.493C>A c.501C>A (p.Cys167Ter) c.381C>A (p.Cys127Ter) c.561C>A (p.Cys187Ter) c.473C>A (p.Ala158Glu) c.402C>A (p.Cys134Ter) c.294C>A (p.Cys98Ter) c.312C>A (p.Cys104Ter) | |
| 2 | g.127423089C= | CA1286881997 | PROC | c.318C= (p.Cys106=) c.*124C= (n.*124C=) n.493C= c.501C= (p.Cys167=) c.381C= (p.Cys127=) c.561C= (p.Cys187=) c.473C= (p.Ala158=) c.402C= (p.Cys134=) c.294C= (p.Cys98=) c.312C= (p.Cys104=) | |
| 2 | g.127423089C>G | CA348399025 | PROC | c.318C>G (p.Cys106Trp) c.*124C>G (n.*124C>G) n.493C>G c.501C>G (p.Cys167Trp) c.381C>G (p.Cys127Trp) c.561C>G (p.Cys187Trp) c.473C>G (p.Ala158Gly) c.402C>G (p.Cys134Trp) c.294C>G (p.Cys98Trp) c.312C>G (p.Cys104Trp) |