| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39666056_39666074delinsGCACTTCGTCGCTCCCTGT | CA2259200887 | TCAP | c.451_469delinsGCACTTCGTCGCTCCCTGT (p.Ala151=) c.379_397delinsGCACTTCGTCGCTCCCTGT (p.Ala127=) | |
| 17 | g.39666058_39666075del | CA8532910 | TCAP | c.453_470del (p.Leu152_Ser157del) c.381_398del (p.Leu128_Ser133del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666064_39666076delinsTCGCTCCCTGTCC | CA2259200894 | TCAP | c.459_471delinsTCGCTCCCTGTCC (p.Arg153=) c.387_399delinsTCGCTCCCTGTCC (p.Arg129=) | |
| 17 | g.39666065C>A | CA399306018 | TCAP | c.460C>A (p.Arg154Ser) c.388C>A (p.Arg130Ser) | ClinVar dbSNP |
| 17 | g.39666065C= | CA2259200895 | TCAP | c.460C= (p.Arg154=) c.388C= (p.Arg130=) | |
| 17 | g.39666065C>G | CA399306020 | TCAP | c.460C>G (p.Arg154Gly) c.388C>G (p.Arg130Gly) | dbSNP |
| 17 | g.39666065C>T | CA8532915 | TCAP | c.460C>T (p.Arg154Cys) c.388C>T (p.Arg130Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666065_39666077del | CA2695225718 | TCAP | c.460_472del (p.Arg154AlafsTer30) c.388_400del (p.Arg130AlafsTer30) | |
| 17 | g.39666071_39666082del | CA8532914 | TCAP | c.466_477del (p.Leu156_Ser159del) c.394_405del (p.Leu132_Ser135del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666066G>A | CA8532916 | TCAP | c.461G>A (p.Arg154His) c.389G>A (p.Arg130His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666066G>C | CA399306027 | TCAP | c.461G>C (p.Arg154Pro) c.389G>C (p.Arg130Pro) | dbSNP |
| 17 | g.39666066G= | CA2259200896 | TCAP | c.461G= (p.Arg154=) c.389G= (p.Arg130=) | |
| 17 | g.39666066G>T | CA399306026 | TCAP | c.461G>T (p.Arg154Leu) c.389G>T (p.Arg130Leu) | gnomAD v4 |
| 17 | g.39666067C>A | CA499670555 | TCAP | c.462C>A (p.Arg154=) c.390C>A (p.Arg130=) | dbSNP |
| 17 | g.39666067C= | CA2259200897 | TCAP | c.462C= (p.Arg154=) c.390C= (p.Arg130=) | |
| 17 | g.39666067C>G | CA290434226 | TCAP | c.462C>G (p.Arg154=) c.390C>G (p.Arg130=) | dbSNP |
| 17 | g.39666067C>T | CA499670554 | TCAP | c.462C>T (p.Arg154=) c.390C>T (p.Arg130=) | dbSNP |
| 17 | g.39666068T>A | CA399306031 | TCAP | c.463T>A (p.Ser155Thr) c.391T>A (p.Ser131Thr) | dbSNP gnomAD v4 |
| 17 | g.39666068T>C | CA399306034 | TCAP | c.463T>C (p.Ser155Pro) c.391T>C (p.Ser131Pro) | |
| 17 | g.39666068T>G | CA399306036 | TCAP | c.463T>G (p.Ser155Ala) c.391T>G (p.Ser131Ala) | |
| 17 | g.39666069C>A | CA399306039 | TCAP | c.464C>A (p.Ser155Tyr) c.392C>A (p.Ser131Tyr) | |
| 17 | g.39666069C= | CA2259200898 | TCAP | c.464C= (p.Ser155=) c.392C= (p.Ser131=) | |
| 17 | g.39666069C>G | CA399306041 | TCAP | c.464C>G (p.Ser155Cys) c.392C>G (p.Ser131Cys) | ClinVar dbSNP |
| 17 | g.39666069C>T | CA399306043 | TCAP | c.464C>T (p.Ser155Phe) c.392C>T (p.Ser131Phe) | dbSNP gnomAD v2 |
| 17 | g.39666070C>A | CA499670557 | TCAP | c.465C>A (p.Ser155=) c.393C>A (p.Ser131=) | dbSNP gnomAD v4 |
| 17 | g.39666070C>G | CA499670558 | TCAP | c.465C>G (p.Ser155=) c.393C>G (p.Ser131=) | |
| 17 | g.39666070C>T | CA499670559 | TCAP | c.465C>T (p.Ser155=) c.393C>T (p.Ser131=) | dbSNP gnomAD v4 COSMIC |
| 17 | g.39666071C>A | CA399306046 | TCAP | c.466C>A (p.Leu156Met) c.394C>A (p.Leu132Met) | |
| 17 | g.39666071C>G | CA399306047 | TCAP | c.466C>G (p.Leu156Val) c.394C>G (p.Leu132Val) | |
| 17 | g.39666071C>T | CA499670561 | TCAP | c.466C>T (p.Leu156=) c.394C>T (p.Leu132=) | ClinVar |
| 17 | g.39666072T>A | CA399306050 | TCAP | c.467T>A (p.Leu156Gln) c.395T>A (p.Leu132Gln) | |
| 17 | g.39666072T>C | CA399306052 | TCAP | c.467T>C (p.Leu156Pro) c.395T>C (p.Leu132Pro) | dbSNP |
| 17 | g.39666072T>G | CA399306053 | TCAP | c.467T>G (p.Leu156Arg) c.395T>G (p.Leu132Arg) | |
| 17 | g.39666073G>A | CA499670564 | TCAP | c.468G>A (p.Leu156=) c.396G>A (p.Leu132=) | dbSNP gnomAD v4 |
| 17 | g.39666073G>C | CA499670566 | TCAP | c.468G>C (p.Leu156=) c.396G>C (p.Leu132=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666073G= | CA2259200899 | TCAP | c.468G= (p.Leu156=) c.396G= (p.Leu132=) | |
| 17 | g.39666073G>T | CA499670567 | TCAP | c.468G>T (p.Leu156=) c.396G>T (p.Leu132=) | gnomAD v4 |
| 17 | g.39666074T>A | CA290434229 | TCAP | c.469T>A (p.Ser157Thr) c.397T>A (p.Ser133Thr) | ClinVar dbSNP |
| 17 | g.39666074T>C | CA399306054 | TCAP | c.469T>C (p.Ser157Pro) c.397T>C (p.Ser133Pro) | dbSNP |
| 17 | g.39666074T>G | CA399306055 | TCAP | c.469T>G (p.Ser157Ala) c.397T>G (p.Ser133Ala) | dbSNP |
| 17 | g.39666074T= | CA2259200900 | TCAP | c.469T= (p.Ser157=) c.397T= (p.Ser133=) | |
| 17 | g.39666075C>A | CA399306057 | TCAP | c.470C>A (p.Ser157Tyr) c.398C>A (p.Ser133Tyr) | |
| 17 | g.39666075C= | CA2259200901 | TCAP | c.470C= (p.Ser157=) c.398C= (p.Ser133=) | |
| 17 | g.39666075C>G | CA399306058 | TCAP | c.470C>G (p.Ser157Cys) c.398C>G (p.Ser133Cys) | dbSNP |
| 17 | g.39666075C>T | CA399306056 | TCAP | c.470C>T (p.Ser157Phe) c.398C>T (p.Ser133Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666075_39666106dup | CA2637633330 | TCAP | c.470_501dup (p.Ter168ProextTer31) c.398_429dup (p.Ter144ProextTer31) | gnomAD v4 |
| 17 | g.39666076C>A | CA499670569 | TCAP | c.471C>A (p.Ser157=) c.399C>A (p.Ser133=) | dbSNP |
| 17 | g.39666076C>G | CA499670570 | TCAP | c.471C>G (p.Ser157=) c.399C>G (p.Ser133=) | dbSNP gnomAD v4 |
| 17 | g.39666076C>T | CA499670571 | TCAP | c.471C>T (p.Ser157=) c.399C>T (p.Ser133=) | dbSNP |
| 17 | g.39666077C>A | CA134928 | TCAP | c.472C>A (p.Arg158Ser) c.400C>A (p.Arg134Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666077C= | CA2259200902 | TCAP | c.472C= (p.Arg158=) c.400C= (p.Arg134=) | |
| 17 | g.39666077C>G | CA290434231 | TCAP | c.472C>G (p.Arg158Gly) c.400C>G (p.Arg134Gly) | dbSNP |
| 17 | g.39666077C>T | CA10583538 | TCAP | c.472C>T (p.Arg158Cys) c.400C>T (p.Arg134Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666078G>A | CA134931 | TCAP | c.473G>A (p.Arg158His) c.401G>A (p.Arg134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666078G>C | CA399306059 | TCAP | c.473G>C (p.Arg158Pro) c.401G>C (p.Arg134Pro) | dbSNP |
| 17 | g.39666078G= | CA2259200903 | TCAP | c.473G= (p.Arg158=) c.401G= (p.Arg134=) | |
| 17 | g.39666078G>T | CA399306060 | TCAP | c.473G>T (p.Arg158Leu) c.401G>T (p.Arg134Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666079_39666092dup | CA2809442613 | TCAP | c.474_487dup (p.Glu163AlafsTer30) c.402_415dup (p.Glu139AlafsTer30) | |
| 17 | g.39666079C>A | CA499670573 | TCAP | c.474C>A (p.Arg158=) c.402C>A (p.Arg134=) | |
| 17 | g.39666079C>G | CA499670574 | TCAP | c.474C>G (p.Arg158=) c.402C>G (p.Arg134=) | dbSNP |
| 17 | g.39666079C>T | CA499670575 | TCAP | c.474C>T (p.Arg158=) c.402C>T (p.Arg134=) | dbSNP gnomAD v4 |
| 17 | g.39666080T>A | CA308829 | TCAP | c.475T>A (p.Ser159Thr) c.403T>A (p.Ser135Thr) | ClinVar dbSNP |
| 17 | g.39666080T>C | CA399306061 | TCAP | c.475T>C (p.Ser159Pro) c.403T>C (p.Ser135Pro) | |
| 17 | g.39666080T>G | CA399306062 | TCAP | c.475T>G (p.Ser159Ala) c.403T>G (p.Ser135Ala) | |
| 17 | g.39666080T= | CA2259200904 | TCAP | c.475T= (p.Ser159=) c.403T= (p.Ser135=) | |
| 17 | g.39666081C>A | CA399306063 | TCAP | c.476C>A (p.Ser159Tyr) c.404C>A (p.Ser135Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666081C= | CA2259200905 | TCAP | c.476C= (p.Ser159=) c.404C= (p.Ser135=) | |
| 17 | g.39666081C>G | CA399306064 | TCAP | c.476C>G (p.Ser159Cys) c.404C>G (p.Ser135Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666081C>T | CA399306065 | TCAP | c.476C>T (p.Ser159Phe) c.404C>T (p.Ser135Phe) | COSMIC |
| 17 | g.39666082C>A | CA499670579 | TCAP | c.477C>A (p.Ser159=) c.405C>A (p.Ser135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666082C= | CA2259200906 | TCAP | c.477C= (p.Ser159=) c.405C= (p.Ser135=) | |
| 17 | g.39666082C>G | CA499670580 | TCAP | c.477C>G (p.Ser159=) c.405C>G (p.Ser135=) | |
| 17 | g.39666082C>T | CA499670581 | TCAP | c.477C>T (p.Ser159=) c.405C>T (p.Ser135=) | gnomAD v4 COSMIC |
| 17 | g.39666084_39666099del | CA2573153714 | TCAP | c.479_494del (p.Met160ArgfsTer23) c.407_422del (p.Met136ArgfsTer23) | ClinVar dbSNP |
| 17 | g.39666083A= | CA2259200907 | TCAP | c.478A= (p.Met160=) c.406A= (p.Met136=) | |
| 17 | g.39666083A>C | CA399306067 | TCAP | c.478A>C (p.Met160Leu) c.406A>C (p.Met136Leu) | |
| 17 | g.39666083A>G | CA290434241 | TCAP | c.478A>G (p.Met160Val) c.406A>G (p.Met136Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666083A>T | CA399306066 | TCAP | c.478A>T (p.Met160Leu) c.406A>T (p.Met136Leu) | dbSNP |
| 17 | g.39666084T>A | CA399306068 | TCAP | c.479T>A (p.Met160Lys) c.407T>A (p.Met136Lys) | dbSNP |
| 17 | g.39666084T>C | CA399306069 | TCAP | c.479T>C (p.Met160Thr) c.407T>C (p.Met136Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666084T>G | CA399306070 | TCAP | c.479T>G (p.Met160Arg) c.407T>G (p.Met136Arg) | |
| 17 | g.39666085G>A | CA8532917 | TCAP | c.480G>A (p.Met160Ile) c.408G>A (p.Met136Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666085G>C | CA399306071 | TCAP | c.480G>C (p.Met160Ile) c.408G>C (p.Met136Ile) | dbSNP |
| 17 | g.39666085G= | CA2259200908 | TCAP | c.480G= (p.Met160=) c.408G= (p.Met136=) | |
| 17 | g.39666085G>T | CA399306072 | TCAP | c.480G>T (p.Met160Ile) c.408G>T (p.Met136Ile) | |
| 17 | g.39666086T>A | CA399306073 | TCAP | c.481T>A (p.Ser161Thr) c.409T>A (p.Ser137Thr) | ClinVar dbSNP |
| 17 | g.39666086T>C | CA399306074 | TCAP | c.481T>C (p.Ser161Pro) c.409T>C (p.Ser137Pro) | dbSNP |
| 17 | g.39666086T>G | CA399306075 | TCAP | c.481T>G (p.Ser161Ala) c.409T>G (p.Ser137Ala) | |
| 17 | g.39666086T= | CA2259200909 | TCAP | c.481T= (p.Ser161=) c.409T= (p.Ser137=) | |
| 17 | g.39666087C>A | CA399306076 | TCAP | c.482C>A (p.Ser161Tyr) c.410C>A (p.Ser137Tyr) | dbSNP |
| 17 | g.39666087C= | CA2259200910 | TCAP | c.482C= (p.Ser161=) c.410C= (p.Ser137=) | |
| 17 | g.39666087C>G | CA399306077 | TCAP | c.482C>G (p.Ser161Cys) c.410C>G (p.Ser137Cys) | dbSNP |
| 17 | g.39666087C>T | CA399306078 | TCAP | c.482C>T (p.Ser161Phe) c.410C>T (p.Ser137Phe) | dbSNP gnomAD v2 |
| 17 | g.39666088C>A | CA499670586 | TCAP | c.483C>A (p.Ser161=) c.411C>A (p.Ser137=) | dbSNP gnomAD v4 |
| 17 | g.39666088C= | CA2259200911 | TCAP | c.483C= (p.Ser161=) c.411C= (p.Ser137=) | |
| 17 | g.39666088C>G | CA499670587 | TCAP | c.483C>G (p.Ser161=) c.411C>G (p.Ser137=) | dbSNP |
| 17 | g.39666088C>T | CA499670588 | TCAP | c.483C>T (p.Ser161=) c.411C>T (p.Ser137=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666089C>A | CA399306081 | TCAP | c.484C>A (p.Gln162Lys) c.412C>A (p.Gln138Lys) | |
| 17 | g.39666089C>G | CA399306080 | TCAP | c.484C>G (p.Gln162Glu) c.412C>G (p.Gln138Glu) | |
| 17 | g.39666089C>T | CA399306079 | TCAP | c.484C>T (p.Gln162Ter) c.412C>T (p.Gln138Ter) | |
| 17 | g.39666090A>C | CA399306082 | TCAP | c.485A>C (p.Gln162Pro) c.413A>C (p.Gln138Pro) | |
| 17 | g.39666090A>G | CA399306084 | TCAP | c.485A>G (p.Gln162Arg) c.413A>G (p.Gln138Arg) | dbSNP gnomAD v4 |
| 17 | g.39666090A>T | CA399306083 | TCAP | c.485A>T (p.Gln162Leu) c.413A>T (p.Gln138Leu) | |
| 17 | g.39666091G>A | CA499670591 | TCAP | c.486G>A (p.Gln162=) c.414G>A (p.Gln138=) | dbSNP gnomAD v2 |
| 17 | g.39666091G>C | CA399306085 | TCAP | c.486G>C (p.Gln162His) c.414G>C (p.Gln138His) | dbSNP |
| 17 | g.39666091G= | CA2259200912 | TCAP | c.486G= (p.Gln162=) c.414G= (p.Gln138=) | |
| 17 | g.39666091G>T | CA399306086 | TCAP | c.486G>T (p.Gln162His) c.414G>T (p.Gln138His) | dbSNP gnomAD v4 |
| 17 | g.39666092G>A | CA399306087 | TCAP | c.487G>A (p.Glu163Lys) c.415G>A (p.Glu139Lys) | |
| 17 | g.39666092G>C | CA399306088 | TCAP | c.487G>C (p.Glu163Gln) c.415G>C (p.Glu139Gln) | dbSNP |
| 17 | g.39666092G>T | CA399306089 | TCAP | c.487G>T (p.Glu163Ter) c.415G>T (p.Glu139Ter) | |
| 17 | g.39666093A>C | CA399306090 | TCAP | c.488A>C (p.Glu163Ala) c.416A>C (p.Glu139Ala) | |
| 17 | g.39666093A>G | CA399306091 | TCAP | c.488A>G (p.Glu163Gly) c.416A>G (p.Glu139Gly) | dbSNP |
| 17 | g.39666093A>T | CA399306092 | TCAP | c.488A>T (p.Glu163Val) c.416A>T (p.Glu139Val) | |
| 17 | g.39666094A>C | CA399306094 | TCAP | c.489A>C (p.Glu163Asp) c.417A>C (p.Glu139Asp) | |
| 17 | g.39666094A>G | CA499670594 | TCAP | c.489A>G (p.Glu163=) c.417A>G (p.Glu139=) | gnomAD v4 |
| 17 | g.39666094A>T | CA399306093 | TCAP | c.489A>T (p.Glu163Asp) c.417A>T (p.Glu139Asp) | |
| 17 | g.39666095G>A | CA399306095 | TCAP | c.490G>A (p.Ala164Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666095G>C | CA399306096 | TCAP | c.490G>C (p.Ala164Pro) c.418G>C (p.Ala140Pro) | dbSNP |
| 17 | g.39666095G= | CA2259200914 | TCAP | c.490G= (p.Ala164=) c.418G= (p.Ala140=) | |
| 17 | g.39666095G>T | CA399306097 | TCAP | c.490G>T (p.Ala164Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
| 17 | g.39666095_39666097delinsGCA | CA2259200913 | TCAP | c.490_492delinsGCA (p.Ala164=) c.418_420delinsGCA (p.Ala140=) | |
| 17 | g.39666096C>A | CA399306098 | TCAP | c.491C>A (p.Ala164Glu) c.419C>A (p.Ala140Glu) | |
| 17 | g.39666096C>G | CA399306099 | TCAP | c.491C>G (p.Ala164Gly) c.419C>G (p.Ala140Gly) | dbSNP |
| 17 | g.39666096C>T | CA399306100 | TCAP | c.491C>T (p.Ala164Val) c.419C>T (p.Ala140Val) | dbSNP |
| 17 | g.39666098_39666099del | CA771858715 | TCAP | c.493_494del (p.Gln165GlufsTer?) c.421_422del (p.Gln141GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666097A>C | CA499670598 | TCAP | c.492A>C (p.Ala164=) c.420A>C (p.Ala140=) | dbSNP gnomAD v4 |
| 17 | g.39666097A>G | CA499670599 | TCAP | c.492A>G (p.Ala164=) c.420A>G (p.Ala140=) | |
| 17 | g.39666097A>T | CA499670600 | TCAP | c.492A>T (p.Ala164=) c.420A>T (p.Ala140=) | |
| 17 | g.39666098_39666101del | CA2637633416 | TCAP | c.493_496del (p.Gln165GlufsTer22) c.421_424del (p.Gln141GlufsTer22) | gnomAD v4 |
| 17 | g.39666098C>A | CA399306102 | TCAP | c.493C>A (p.Gln165Lys) c.421C>A (p.Gln141Lys) | gnomAD v4 |
| 17 | g.39666098C= | CA2259200915 | TCAP | c.493C= (p.Gln165=) c.421C= (p.Gln141=) | |
| 17 | g.39666098C>G | CA134934 | TCAP | c.493C>G (p.Gln165Glu) c.421C>G (p.Gln141Glu) | ClinVar dbSNP |
| 17 | g.39666098C>T | CA399306101 | TCAP | c.493C>T (p.Gln165Ter) c.421C>T (p.Gln141Ter) | gnomAD v4 |
| 17 | g.39666099A= | CA2259200916 | TCAP | c.494A= (p.Gln165=) c.422A= (p.Gln141=) | |
| 17 | g.39666099A>C | CA399306103 | TCAP | c.494A>C (p.Gln165Pro) c.422A>C (p.Gln141Pro) | |
| 17 | g.39666099A>G | CA399306104 | TCAP | c.494A>G (p.Gln165Arg) c.422A>G (p.Gln141Arg) | dbSNP gnomAD v4 |
| 17 | g.39666099A>T | CA399306105 | TCAP | c.494A>T (p.Gln165Leu) c.422A>T (p.Gln141Leu) | ClinVar dbSNP |
| 17 | g.39666103_39666104del | CA2580612607 | TCAP | c.498_499del (p.Gly167LeufsTer?) c.426_427del (p.Gly143LeufsTer?) | ClinVar dbSNP |
| 17 | g.39666101_39666104del | CA2695225719 | TCAP | c.496_499del (p.Arg166AlafsTer21) c.424_427del (p.Arg142AlafsTer21) | |
| 17 | g.39666100G>A | CA499670604 | TCAP | c.495G>A (p.Gln165=) c.423G>A (p.Gln141=) | dbSNP |
| 17 | g.39666100G>C | CA399306106 | TCAP | c.495G>C (p.Gln165His) c.423G>C (p.Gln141His) | dbSNP |
| 17 | g.39666100G>T | CA399306107 | TCAP | c.495G>T (p.Gln165His) c.423G>T (p.Gln141His) | dbSNP |
| 17 | g.39666101A= | CA2259200917 | TCAP | c.496A= (p.Arg166=) c.424A= (p.Arg142=) | |
| 17 | g.39666101A>C | CA499670605 | TCAP | c.496A>C (p.Arg166=) c.424A>C (p.Arg142=) | |
| 17 | g.39666101A>G | CA399306108 | TCAP | c.496A>G (p.Arg166Gly) c.424A>G (p.Arg142Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666101A>T | CA399306109 | TCAP | c.496A>T (p.Arg166Ter) c.424A>T (p.Arg142Ter) | |
| 17 | g.39666102G>A | CA8532918 | TCAP | c.497G>A (p.Arg166Lys) c.425G>A (p.Arg142Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666102G>C | CA399306110 | TCAP | c.497G>C (p.Arg166Thr) c.425G>C (p.Arg142Thr) | dbSNP |
| 17 | g.39666102G= | CA2259200918 | TCAP | c.497G= (p.Arg166=) c.425G= (p.Arg142=) | |
| 17 | g.39666102G>T | CA399306111 | TCAP | c.497G>T (p.Arg166Ile) c.425G>T (p.Arg142Ile) | |
| 17 | g.39666103A>C | CA399306112 | TCAP | c.498A>C (p.Arg166Ser) c.426A>C (p.Arg142Ser) | |
| 17 | g.39666103A>G | CA499670609 | TCAP | c.498A>G (p.Arg166=) c.426A>G (p.Arg142=) | dbSNP |
| 17 | g.39666103A>T | CA399306113 | TCAP | c.498A>T (p.Arg166Ser) c.426A>T (p.Arg142Ser) | |
| 17 | g.39666104G>A | CA308832 | TCAP | c.499G>A (p.Gly167Ser) c.427G>A (p.Gly143Ser) | ClinVar dbSNP |
| 17 | g.39666104G>C | CA399306115 | TCAP | c.499G>C (p.Gly167Arg) c.427G>C (p.Gly143Arg) | |
| 17 | g.39666104G= | CA2259200919 | TCAP | c.499G= (p.Gly167=) c.427G= (p.Gly143=) | |
| 17 | g.39666104G>T | CA399306114 | TCAP | c.499G>T (p.Gly167Cys) c.427G>T (p.Gly143Cys) | |
| 17 | g.39666105G>A | CA399306116 | TCAP | c.500G>A (p.Gly167Asp) c.428G>A (p.Gly143Asp) | dbSNP |
| 17 | g.39666105G>C | CA399306117 | TCAP | c.500G>C (p.Gly167Ala) c.428G>C (p.Gly143Ala) | ClinVar dbSNP |
| 17 | g.39666105G>T | CA399306118 | TCAP | c.500G>T (p.Gly167Val) c.428G>T (p.Gly143Val) | dbSNP gnomAD v4 |
| 17 | g.39666106C>A | CA499670611 | TCAP | c.501C>A (p.Gly167=) c.429C>A (p.Gly143=) | |
| 17 | g.39666106C>G | CA499670612 | TCAP | c.501C>G (p.Gly167=) c.429C>G (p.Gly143=) | dbSNP |
| 17 | g.39666106C>T | CA499670613 | TCAP | c.501C>T (p.Gly167=) c.429C>T (p.Gly143=) | dbSNP |
| 17 | g.39666107T>A | CA399306119 | TCAP | c.502T>A (p.Ter168Arg) c.430T>A (p.Ter144Arg) | dbSNP |
| 17 | g.39666107T>C | CA399306120 | TCAP | c.502T>C (p.Ter168Arg) c.430T>C (p.Ter144Arg) | dbSNP |
| 17 | g.39666107T>G | CA399306121 | TCAP | c.502T>G (p.Ter168Gly) c.430T>G (p.Ter144Gly) | |
| 17 | g.39666107_39666109delinsTGA | CA2259200920 | TCAP | c.502_504delinsTGA (p.Ter168=) c.430_432delinsTGA (p.Ter144=) | |
| 17 | g.39666108G>A | CA499670614 | TCAP | c.503G>A (p.Ter168=) c.431G>A (p.Ter144=) | dbSNP |
| 17 | g.39666108G>C | CA399306122 | TCAP | c.503G>C (p.Ter168Ser) c.431G>C (p.Ter144Ser) | dbSNP |
| 17 | g.39666108G>T | CA399306123 | TCAP | c.503G>T (p.Ter168Leu) c.431G>T (p.Ter144Leu) | |
| 17 | g.39666111_39666112del | CA2259200921 | TCAP | c.*2_*3del (n.*2_*3del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666109A>C | CA399306124 | TCAP | c.504A>C (p.Ter168Cys) c.432A>C (p.Ter144Cys) | |
| 17 | g.39666109A>G | CA399306125 | TCAP | c.504A>G (p.Ter168Trp) c.432A>G (p.Ter144Trp) | |
| 17 | g.39666109A>T | CA399306126 | TCAP | c.504A>T (p.Ter168Cys) c.432A>T (p.Ter144Cys) | dbSNP |
| 17 | g.39666110G>A | CA2809442616 | TCAP | c.*1G>A (n.*1G>A) | |
| 17 | g.39666110G>C | CA2733561188 | TCAP | c.*1G>C (n.*1G>C) | dbSNP |
| 17 | g.39666111A>G | CA2733561191 | TCAP | c.*2A>G (n.*2A>G) | dbSNP |
| 17 | g.39666111A>T | CA2733561230 | TCAP | c.*2A>T (n.*2A>T) | dbSNP |
| 17 | g.39666112G>A | CA8532919 | TCAP | c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666112G>C | CA2259200923 | TCAP | c.*3G>C (n.*3G>C) | dbSNP |
| 17 | g.39666112G= | CA2259200922 | TCAP | c.*3G= (n.*3G=) | |
| 17 | g.39666112G>T | CA2637633450 | TCAP | c.*3G>T (n.*3G>T) | gnomAD v4 |
| 17 | g.39666113G>A | CA983629857 | TCAP | c.*4G>A (n.*4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666113G= | CA2259200924 | TCAP | c.*4G= (n.*4G=) | |
| 17 | g.39666114G>A | CA2637633452 | TCAP | c.*5G>A (n.*5G>A) | dbSNP gnomAD v4 |
| 17 | g.39666114G>C | CA2733561402 | TCAP | c.*5G>C (n.*5G>C) | dbSNP |
| 17 | g.39666114G>T | CA2809442617 | TCAP | c.*5G>T (n.*5G>T) | |
| 17 | g.39666115A>C | CA2733561435 | TCAP | c.*6A>C (n.*6A>C) | dbSNP |
| 17 | g.39666115A>T | CA2637633453 | TCAP | c.*6A>T (n.*6A>T) | dbSNP gnomAD v4 |
| 17 | g.39666116C>A | CA2733561438 | TCAP | c.*7C>A (n.*7C>A) | dbSNP |
| 17 | g.39666116C>G | CA2733561463 | TCAP | c.*7C>G (n.*7C>G) | dbSNP |
| 17 | g.39666117T>A | CA2733236719 | TCAP | c.*8T>A (n.*8T>A) | dbSNP |
| 17 | g.39666117T>C | CA625939025 | TCAP | c.*8T>C (n.*8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666117T>G | CA2259200926 | TCAP | c.*8T>G (n.*8T>G) | dbSNP |
| 17 | g.39666117T= | CA2259200925 | TCAP | c.*8T= (n.*8T=) | |
| 17 | g.39666118G>A | CA2733280245 | TCAP | c.*9G>A (n.*9G>A) | dbSNP |
| 17 | g.39666118G>C | CA983629859 | TCAP | c.*9G>C (n.*9G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666118G= | CA2259200927 | TCAP | c.*9G= (n.*9G=) | |
| 17 | g.39666118G>T | CA2576253854 | TCAP | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 17 | g.39666119T>A | CA2733561596 | TCAP | c.*10T>A (n.*10T>A) | dbSNP |
| 17 | g.39666119T>G | CA2733561648 | TCAP | c.*10T>G (n.*10T>G) | dbSNP |
| 17 | g.39666120G>A | CA2733561650 | TCAP | c.*11G>A (n.*11G>A) | dbSNP |
| 17 | g.39666121A= | CA2259200928 | TCAP | c.*12A= (n.*12A=) | |
| 17 | g.39666121A>C | CA2733358289 | TCAP | c.*12A>C (n.*12A>C) | dbSNP |
| 17 | g.39666121A>G | CA2259200929 | TCAP | c.*12A>G (n.*12A>G) | dbSNP |
| 17 | g.39666121A>T | CA2733358290 | TCAP | c.*12A>T (n.*12A>T) | dbSNP |
| 17 | g.39666122C>A | CA2733358292 | TCAP | c.*13C>A (n.*13C>A) | dbSNP |
| 17 | g.39666122C= | CA2259200930 | TCAP | c.*13C= (n.*13C=) | |
| 17 | g.39666122C>G | CA2733358291 | TCAP | c.*13C>G (n.*13C>G) | dbSNP |
| 17 | g.39666122C>T | CA2259200932 | TCAP | c.*13C>T (n.*13C>T) | dbSNP |
| 17 | g.39666122_39666124delinsCTT | CA2259200931 | TCAP | c.*13_*15delinsCTT (n.*13_*15delinsCTT) | |
| 17 | g.39666123T>A | CA2733561682 | TCAP | c.*14T>A (n.*14T>A) | dbSNP |
| 17 | g.39666123_39666124del | CA983629861 | TCAP | c.*14_*15del (n.*14_*15del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666124T>C | CA2259200934 | TCAP | c.*15T>C (n.*15T>C) | dbSNP |
| 17 | g.39666124T>G | CA2637633461 | TCAP | c.*15T>G (n.*15T>G) | gnomAD v4 |
| 17 | g.39666124T= | CA2259200933 | TCAP | c.*15T= (n.*15T=) | |
| 17 | g.39666125G>A | CA290434258 | TCAP | c.*16G>A (n.*16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666125G= | CA2259200935 | TCAP | c.*16G= (n.*16G=) | |
| 17 | g.39666125G>T | CA2733203405 | TCAP | c.*16G>T (n.*16G>T) | dbSNP |
| 17 | g.39666126G>A | CA2637633467 | TCAP | c.*17G>A (n.*17G>A) | gnomAD v4 |
| 17 | g.39666126G>T | CA2733561703 | TCAP | c.*17G>T (n.*17G>T) | dbSNP |
| 17 | g.39666127G>A | CA2637633469 | TCAP | c.*18G>A (n.*18G>A) | dbSNP gnomAD v4 |
| 17 | g.39666127_39666143delinsGCTCCGCTGTGCCCGCC | CA2259200936 | TCAP | c.*18_*34delinsGCTCCGCTGTGCCCGCC (n.*18_*34delinsGCTCCGCTGTGCCCGCC) | |
| 17 | g.39666128C>A | CA2733562038 | TCAP | c.*19C>A (n.*19C>A) | dbSNP |
| 17 | g.39666128C>G | CA2733562039 | TCAP | c.*19C>G (n.*19C>G) | dbSNP |
| 17 | g.39666128C>T | CA2637633479 | TCAP | c.*19C>T (n.*19C>T) | dbSNP gnomAD v4 |
| 17 | g.39666130_39666145del | CA8532920 | TCAP | c.*21_*36del (n.*21_*36del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666129T>A | CA2733562083 | TCAP | c.*20T>A (n.*20T>A) | dbSNP |
| 17 | g.39666129T>C | CA2733562104 | TCAP | c.*20T>C (n.*20T>C) | dbSNP |
| 17 | g.39666130C>G | CA2733562126 | TCAP | c.*21C>G (n.*21C>G) | dbSNP |
| 17 | g.39666130C>T | CA2576253855 | TCAP | c.*21C>T (n.*21C>T) | |
| 17 | g.39666131C>A | CA2733206343 | TCAP | c.*22C>A (n.*22C>A) | dbSNP |
| 17 | g.39666131C= | CA2259200937 | TCAP | c.*22C= (n.*22C=) | |
| 17 | g.39666131C>G | CA2733206348 | TCAP | c.*22C>G (n.*22C>G) | dbSNP |
| 17 | g.39666131C>T | CA8532921 | TCAP | c.*22C>T (n.*22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666132G>A | CA983629868 | TCAP | c.*23G>A (n.*23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666132G>C | CA2733243386 | TCAP | c.*23G>C (n.*23G>C) | dbSNP |
| 17 | g.39666132G= | CA2259200938 | TCAP | c.*23G= (n.*23G=) | |
| 17 | g.39666132G>T | CA625939026 | TCAP | c.*23G>T (n.*23G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666133C>A | CA2259200939 | TCAP | c.*24C>A (n.*24C>A) | dbSNP gnomAD v4 |
| 17 | g.39666133C= | CA2259200940 | TCAP | c.*24C= (n.*24C=) | |
| 17 | g.39666133C>G | CA2733271598 | TCAP | c.*24C>G (n.*24C>G) | dbSNP |
| 17 | g.39666133C>T | CA2733271599 | TCAP | c.*24C>T (n.*24C>T) | dbSNP |
| 17 | g.39666134T>A | CA2733258175 | TCAP | c.*25T>A (n.*25T>A) | dbSNP |
| 17 | g.39666134T>C | CA771858739 | TCAP | c.*25T>C (n.*25T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666134T= | CA2259200941 | TCAP | c.*25T= (n.*25T=) | |
| 17 | g.39666135G>A | CA2733562146 | TCAP | c.*26G>A (n.*26G>A) | dbSNP |
| 17 | g.39666136T>A | CA2733562174 | TCAP | c.*27T>A (n.*27T>A) | dbSNP |
| 17 | g.39666136T>G | CA2733562175 | TCAP | c.*27T>G (n.*27T>G) | dbSNP |
| 17 | g.39666137G>A | CA2733222277 | TCAP | c.*28G>A (n.*28G>A) | dbSNP |
| 17 | g.39666137G>C | CA2637633497 | TCAP | c.*28G>C (n.*28G>C) | dbSNP gnomAD v4 |
| 17 | g.39666137G= | CA2259200943 | TCAP | c.*28G= (n.*28G=) | |
| 17 | g.39666137G>T | CA8532922 | TCAP | c.*28G>T (n.*28G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666137_39666138delinsGC | CA2259200942 | TCAP | c.*28_*29delinsGC (n.*28_*29delinsGC) | |
| 17 | g.39666141_39666144dup | CA2637633496 | TCAP | c.*32_*35dup (n.*32_*35dup) | gnomAD v4 |
| 17 | g.39666138C>A | CA2637633505 | TCAP | c.*29C>A (n.*29C>A) | dbSNP gnomAD v4 |
| 17 | g.39666138C>G | CA2733562230 | TCAP | c.*29C>G (n.*29C>G) | dbSNP |
| 17 | g.39666138C>T | CA2637633503 | TCAP | c.*29C>T (n.*29C>T) | dbSNP gnomAD v4 |
| 17 | g.39666140del | CA8532923 | TCAP | c.*31del (n.*31del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666139C>A | CA8532924 | TCAP | c.*30C>A (n.*30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666139C= | CA2259200944 | TCAP | c.*30C= (n.*30C=) | |
| 17 | g.39666139C>G | CA2733212818 | TCAP | c.*30C>G (n.*30C>G) | dbSNP |
| 17 | g.39666139C>T | CA2733212819 | TCAP | c.*30C>T (n.*30C>T) | dbSNP |
| 17 | g.39666140C>A | CA2733238919 | TCAP | c.*31C>A (n.*31C>A) | dbSNP |
| 17 | g.39666140C= | CA2259200945 | TCAP | c.*31C= (n.*31C=) | |
| 17 | g.39666140C>G | CA2637633510 | TCAP | c.*31C>G (n.*31C>G) | dbSNP gnomAD v4 |
| 17 | g.39666140C>T | CA625939027 | TCAP | c.*31C>T (n.*31C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666141G>A | CA8532925 | TCAP | c.*32G>A (n.*32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666141G>C | CA2733207339 | TCAP | c.*32G>C (n.*32G>C) | dbSNP |
| 17 | g.39666141G= | CA2259200946 | TCAP | c.*32G= (n.*32G=) | |
| 17 | g.39666142C= | CA2259200947 | TCAP | c.*33C= (n.*33C=) | |
| 17 | g.39666142C>T | CA8532926 | TCAP | c.*33C>T (n.*33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666143C>A | CA2576253856 | TCAP | c.*34C>A (n.*34C>A) | gnomAD v4 |
| 17 | g.39666143C= | CA2259200948 | TCAP | c.*34C= (n.*34C=) | |
| 17 | g.39666143C>G | CA8532927 | TCAP | c.*34C>G (n.*34C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666144C>A | CA2733271601 | TCAP | c.*35C>A (n.*35C>A) | dbSNP |
| 17 | g.39666144C= | CA2259200949 | TCAP | c.*35C= (n.*35C=) | |
| 17 | g.39666144C>G | CA2259200950 | TCAP | c.*35C>G (n.*35C>G) | dbSNP |
| 17 | g.39666146G>A | CA2637633524 | TCAP | c.*37G>A (n.*37G>A) | dbSNP gnomAD v4 |
| 17 | g.39666146G>C | CA2637633525 | TCAP | c.*37G>C (n.*37G>C) | dbSNP gnomAD v4 |
| 17 | g.39666147G>A | CA2637633526 | TCAP | c.*38G>A (n.*38G>A) | dbSNP gnomAD v4 |
| 17 | g.39666147G>C | CA2637633527 | TCAP | c.*38G>C (n.*38G>C) | gnomAD v4 |
| 17 | g.39666148G>A | CA2733562388 | TCAP | c.*39G>A (n.*39G>A) | dbSNP |
| 17 | g.39666148G>C | CA2637633529 | TCAP | c.*39G>C (n.*39G>C) | gnomAD v4 |
| 17 | g.39666148G>T | CA2637633531 | TCAP | c.*39G>T (n.*39G>T) | dbSNP gnomAD v4 |
| 17 | g.39666149C= | CA2259200951 | TCAP | c.*40C= (n.*40C=) | |
| 17 | g.39666149C>G | CA2733261776 | TCAP | c.*40C>G (n.*40C>G) | dbSNP |
| 17 | g.39666149C>T | CA625939028 | TCAP | c.*40C>T (n.*40C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666150T>A | CA2733230301 | TCAP | c.*41T>A (n.*41T>A) | dbSNP |
| 17 | g.39666150T>C | CA625939029 | TCAP | c.*41T>C (n.*41T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666150T>G | CA2733230302 | TCAP | c.*41T>G (n.*41T>G) | dbSNP |
| 17 | g.39666150T= | CA2259200952 | TCAP | c.*41T= (n.*41T=) | |
| 17 | g.39666151G>A | CA2733271603 | TCAP | c.*42G>A (n.*42G>A) | dbSNP |
| 17 | g.39666151G>C | CA2259200954 | TCAP | c.*42G>C (n.*42G>C) | dbSNP |
| 17 | g.39666151G= | CA2259200953 | TCAP | c.*42G= (n.*42G=) | |
| 17 | g.39666152G>C | CA2576253858 | TCAP | c.*43G>C (n.*43G>C) | |
| 17 | g.39666152G>T | CA2637633539 | TCAP | c.*43G>T (n.*43G>T) | gnomAD v4 |
| 17 | g.39666154_39666155insTGGC | CA2576253857 | TCAP | c.*45_*46insTGGC (n.*45_*46insTGGC) | |
| 17 | g.39666153G>A | CA2637633541 | TCAP | c.*44G>A (n.*44G>A) | dbSNP gnomAD v4 |
| 17 | g.39666153G>C | CA2733563195 | TCAP | c.*44G>C (n.*44G>C) | dbSNP |
| 17 | g.39666154C>A | CA2637633544 | TCAP | c.*45C>A (n.*45C>A) | gnomAD v4 |
| 17 | g.39666154C>T | CA2637633547 | TCAP | c.*45C>T (n.*45C>T) | dbSNP gnomAD v4 |
| 17 | g.39666155C>A | CA2259200956 | TCAP | c.*46C>A (n.*46C>A) | dbSNP gnomAD v4 |
| 17 | g.39666155C= | CA2259200955 | TCAP | c.*46C= (n.*46C=) | |
| 17 | g.39666155C>G | CA2576253859 | TCAP | c.*46C>G (n.*46C>G) | |
| 17 | g.39666156C>A | CA2637633549 | TCAP | c.*47C>A (n.*47C>A) | dbSNP gnomAD v4 |
| 17 | g.39666156C>G | CA2809442620 | TCAP | c.*47C>G (n.*47C>G) | |
| 17 | g.39666159C>A | CA2733563209 | TCAP | c.*50C>A (n.*50C>A) | dbSNP |
| 17 | g.39666159C>G | CA2733563222 | TCAP | c.*50C>G (n.*50C>G) | dbSNP |
| 17 | g.39666160C>A | CA2637633552 | TCAP | c.*51C>A (n.*51C>A) | dbSNP gnomAD v4 |
| 17 | g.39666160C= | CA2259200957 | TCAP | c.*51C= (n.*51C=) | |
| 17 | g.39666160C>G | CA8532928 | TCAP | c.*51C>G (n.*51C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666160C>T | CA625939030 | TCAP | c.*51C>T (n.*51C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666162G>A | CA2637633558 | TCAP | c.*53G>A (n.*53G>A) | dbSNP gnomAD v4 |
| 17 | g.39666163G>A | CA290434287 | TCAP | c.*54G>A (n.*54G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666163G>C | CA2259200959 | TCAP | c.*54G>C (n.*54G>C) | dbSNP gnomAD v4 |
| 17 | g.39666163G= | CA2259200958 | TCAP | c.*54G= (n.*54G=) | |
| 17 | g.39666164C>A | CA2733563224 | TCAP | c.*55C>A (n.*55C>A) | dbSNP |
| 17 | g.39666164C>G | CA2733563225 | TCAP | c.*55C>G (n.*55C>G) | dbSNP |
| 17 | g.39666164C>T | CA2576253860 | TCAP | c.*55C>T (n.*55C>T) | dbSNP gnomAD v4 |
| 17 | g.39666165T>A | CA2733563231 | TCAP | c.*56T>A (n.*56T>A) | dbSNP |
| 17 | g.39666165T>C | CA2733563337 | TCAP | c.*56T>C (n.*56T>C) | dbSNP |