| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.15627394_15627402dup | CA565714628 | DTNBP1 | c.305_313dup (p.Leu104_Pro105insGlnGlnLeu) c.254_262dup (p.Leu87_Pro88insGlnGlnLeu) c.*303_*311dup (n.*303_*311dup) c.*215_*223dup (n.*215_*223dup) c.200_208dup (p.Leu69_Pro70insGlnGlnLeu) c.62_70dup (p.Leu23_Pro24insGlnGlnLeu) n.633_641dup c.266_274dup (p.Leu91_Pro92insGlnGlnLeu) c.215_223dup (p.Leu74_Pro75insGlnGlnLeu) n.603_611dup | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.15627394_15627402del | CA2580614839 | DTNBP1 | c.305_313del (p.Gln102_Leu104del) c.254_262del (p.Gln85_Leu87del) c.*303_*311del (n.*303_*311del) c.*215_*223del (n.*215_*223del) c.200_208del (p.Gln67_Leu69del) c.62_70del (p.Gln21_Leu23del) n.633_641del c.266_274del (p.Gln89_Leu91del) c.215_223del (p.Gln72_Leu74del) n.603_611del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.15627391G>A | CA340087 | DTNBP1 | c.307C>T (p.Gln103Ter) c.256C>T (p.Gln86Ter) c.*305C>T (n.*305C>T) c.*217C>T (n.*217C>T) c.202C>T (p.Gln68Ter) c.64C>T (p.Gln22Ter) n.635C>T c.268C>T (p.Gln90Ter) c.217C>T (p.Gln73Ter) n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.15627391G>C | CA362868931 | DTNBP1 | c.307C>G (p.Gln103Glu) c.256C>G (p.Gln86Glu) c.*305C>G (n.*305C>G) c.*217C>G (n.*217C>G) c.202C>G (p.Gln68Glu) c.64C>G (p.Gln22Glu) n.635C>G c.268C>G (p.Gln90Glu) c.217C>G (p.Gln73Glu) n.605C>G | |
| 6 | g.15627391G= | CA1612384602 | DTNBP1 | c.307C= (p.Gln103=) c.256C= (p.Gln86=) c.*305C= (n.*305C=) c.*217C= (n.*217C=) c.202C= (p.Gln68=) c.64C= (p.Gln22=) n.635C= c.268C= (p.Gln90=) c.217C= (p.Gln73=) n.605C= | |
| 6 | g.15627391G>T | CA362868932 | DTNBP1 | c.307C>A (p.Gln103Lys) c.256C>A (p.Gln86Lys) c.*305C>A (n.*305C>A) c.*217C>A (n.*217C>A) c.202C>A (p.Gln68Lys) c.64C>A (p.Gln22Lys) n.635C>A c.268C>A (p.Gln90Lys) c.217C>A (p.Gln73Lys) n.605C>A | |
| 6 | g.15627392C>A | CA3644174 | DTNBP1 | c.306G>T (p.Gln102His) c.255G>T (p.Gln85His) c.*304G>T (n.*304G>T) c.*216G>T (n.*216G>T) c.201G>T (p.Gln67His) c.63G>T (p.Gln21His) n.634G>T c.267G>T (p.Gln89His) c.216G>T (p.Gln72His) n.604G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.15627392C= | CA1612384603 | DTNBP1 | c.306G= (p.Gln102=) c.255G= (p.Gln85=) c.*304G= (n.*304G=) c.*216G= (n.*216G=) c.201G= (p.Gln67=) c.63G= (p.Gln21=) n.634G= c.267G= (p.Gln89=) c.216G= (p.Gln72=) n.604G= | |
| 6 | g.15627392C>G | CA362868933 | DTNBP1 | c.306G>C (p.Gln102His) c.255G>C (p.Gln85His) c.*304G>C (n.*304G>C) c.*216G>C (n.*216G>C) c.201G>C (p.Gln67His) c.63G>C (p.Gln21His) n.634G>C c.267G>C (p.Gln89His) c.216G>C (p.Gln72His) n.604G>C | |
| 6 | g.15627392C>T | CA448827248 | DTNBP1 | c.306G>A (p.Gln102=) c.255G>A (p.Gln85=) c.*304G>A (n.*304G>A) c.*216G>A (n.*216G>A) c.201G>A (p.Gln67=) c.63G>A (p.Gln21=) n.634G>A c.267G>A (p.Gln89=) c.216G>A (p.Gln72=) n.604G>A | |
| 6 | g.15627393T>A | CA362868934 | DTNBP1 | c.305A>T (p.Gln102Leu) c.254A>T (p.Gln85Leu) c.*303A>T (n.*303A>T) c.*215A>T (n.*215A>T) c.200A>T (p.Gln67Leu) c.62A>T (p.Gln21Leu) n.633A>T c.266A>T (p.Gln89Leu) c.215A>T (p.Gln72Leu) n.603A>T | |
| 6 | g.15627393T>C | CA362868935 | DTNBP1 | c.305A>G (p.Gln102Arg) c.254A>G (p.Gln85Arg) c.*303A>G (n.*303A>G) c.*215A>G (n.*215A>G) c.200A>G (p.Gln67Arg) c.62A>G (p.Gln21Arg) n.633A>G c.266A>G (p.Gln89Arg) c.215A>G (p.Gln72Arg) n.603A>G | gnomAD v4 |
| 6 | g.15627393T>G | CA362868936 | DTNBP1 | c.305A>C (p.Gln102Pro) c.254A>C (p.Gln85Pro) c.*303A>C (n.*303A>C) c.*215A>C (n.*215A>C) c.200A>C (p.Gln67Pro) c.62A>C (p.Gln21Pro) n.633A>C c.266A>C (p.Gln89Pro) c.215A>C (p.Gln72Pro) n.603A>C | |
| 6 | g.15627394G>A | CA362868937 | DTNBP1 | c.304C>T (p.Gln102Ter) c.253C>T (p.Gln85Ter) c.*302C>T (n.*302C>T) c.*214C>T (n.*214C>T) c.199C>T (p.Gln67Ter) c.61C>T (p.Gln21Ter) n.632C>T c.265C>T (p.Gln89Ter) c.214C>T (p.Gln72Ter) n.602C>T | |
| 6 | g.15627394G>C | CA362868938 | DTNBP1 | c.304C>G (p.Gln102Glu) c.253C>G (p.Gln85Glu) c.*302C>G (n.*302C>G) c.*214C>G (n.*214C>G) c.199C>G (p.Gln67Glu) c.61C>G (p.Gln21Glu) n.632C>G c.265C>G (p.Gln89Glu) c.214C>G (p.Gln72Glu) n.602C>G | |
| 6 | g.15627394G>T | CA362868939 | DTNBP1 | c.304C>A (p.Gln102Lys) c.253C>A (p.Gln85Lys) c.*302C>A (n.*302C>A) c.*214C>A (n.*214C>A) c.199C>A (p.Gln67Lys) c.61C>A (p.Gln21Lys) n.632C>A c.265C>A (p.Gln89Lys) c.214C>A (p.Gln72Lys) n.602C>A | |
| 6 | g.15627394_15627414delinsGGAGCTGCTCTTGCAGCTCCA | CA1612384604 | DTNBP1 | c.284_304delinsTGGAGCTGCAAGAGCAGCTCC (p.Val95=) c.233_253delinsTGGAGCTGCAAGAGCAGCTCC (p.Val78=) c.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC (n.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC) c.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC (n.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC) c.179_199delinsTGGAGCTGCAAGAGCAGCTCC (p.Val60=) c.41_61delinsTGGAGCTGCAAGAGCAGCTCC (p.Val14=) n.612_632delinsTGGAGCTGCAAGAGCAGCTCC c.245_265delinsTGGAGCTGCAAGAGCAGCTCC (p.Val82=) c.194_214delinsTGGAGCTGCAAGAGCAGCTCC (p.Val65=) n.582_602delinsTGGAGCTGCAAGAGCAGCTCC | |
| 6 | g.15627395G>A | CA448827249 | DTNBP1 | c.303C>T (p.Leu101=) c.252C>T (p.Leu84=) c.*301C>T (n.*301C>T) c.*213C>T (n.*213C>T) c.198C>T (p.Leu66=) c.60C>T (p.Leu20=) n.631C>T c.264C>T (p.Leu88=) c.213C>T (p.Leu71=) n.601C>T | |
| 6 | g.15627395G>C | CA448827250 | DTNBP1 | c.303C>G (p.Leu101=) c.252C>G (p.Leu84=) c.*301C>G (n.*301C>G) c.*213C>G (n.*213C>G) c.198C>G (p.Leu66=) c.60C>G (p.Leu20=) n.631C>G c.264C>G (p.Leu88=) c.213C>G (p.Leu71=) n.601C>G | |
| 6 | g.15627395G>T | CA448827251 | DTNBP1 | c.303C>A (p.Leu101=) c.252C>A (p.Leu84=) c.*301C>A (n.*301C>A) c.*213C>A (n.*213C>A) c.198C>A (p.Leu66=) c.60C>A (p.Leu20=) n.631C>A c.264C>A (p.Leu88=) c.213C>A (p.Leu71=) n.601C>A | |
| 6 | g.15627395_15627414del | CA135264857 | DTNBP1 | c.284_303del (p.Val95AlafsTer25) c.233_252del (p.Val78AlafsTer25) c.*282_*301del (n.*282_*301del) c.*194_*213del (n.*194_*213del) c.179_198del (p.Val60AlafsTer25) c.41_60del (p.Val14AlafsTer25) n.612_631del c.245_264del (p.Val82AlafsTer25) c.194_213del (p.Val65AlafsTer25) n.582_601del | dbSNP |
| 6 | g.15627396A>C | CA362868940 | DTNBP1 | c.302T>G (p.Leu101Arg) c.251T>G (p.Leu84Arg) c.*300T>G (n.*300T>G) c.*212T>G (n.*212T>G) c.197T>G (p.Leu66Arg) c.59T>G (p.Leu20Arg) n.630T>G c.263T>G (p.Leu88Arg) c.212T>G (p.Leu71Arg) n.600T>G | |
| 6 | g.15627396A>G | CA362868942 | DTNBP1 | c.302T>C (p.Leu101Pro) c.251T>C (p.Leu84Pro) c.*300T>C (n.*300T>C) c.*212T>C (n.*212T>C) c.197T>C (p.Leu66Pro) c.59T>C (p.Leu20Pro) n.630T>C c.263T>C (p.Leu88Pro) c.212T>C (p.Leu71Pro) n.600T>C | |
| 6 | g.15627396A>T | CA362868941 | DTNBP1 | c.302T>A (p.Leu101His) c.251T>A (p.Leu84His) c.*300T>A (n.*300T>A) c.*212T>A (n.*212T>A) c.197T>A (p.Leu66His) c.59T>A (p.Leu20His) n.630T>A c.263T>A (p.Leu88His) c.212T>A (p.Leu71His) n.600T>A | |
| 6 | g.15627396_15627405delinsAGCTGCTCTT | CA1612384605 | DTNBP1 | c.293_302delinsAAGAGCAGCT (p.Gln98=) c.242_251delinsAAGAGCAGCT (p.Gln81=) c.*291_*300delinsAAGAGCAGCT (n.*291_*300delinsAAGAGCAGCT) c.*203_*212delinsAAGAGCAGCT (n.*203_*212delinsAAGAGCAGCT) c.188_197delinsAAGAGCAGCT (p.Gln63=) c.50_59delinsAAGAGCAGCT (p.Gln17=) n.621_630delinsAAGAGCAGCT c.254_263delinsAAGAGCAGCT (p.Gln85=) c.203_212delinsAAGAGCAGCT (p.Gln68=) n.591_600delinsAAGAGCAGCT | |
| 6 | g.15627397G>A | CA3644175 | DTNBP1 | c.301C>T (p.Leu101Phe) c.250C>T (p.Leu84Phe) c.*299C>T (n.*299C>T) c.*211C>T (n.*211C>T) c.196C>T (p.Leu66Phe) c.58C>T (p.Leu20Phe) n.629C>T c.262C>T (p.Leu88Phe) c.211C>T (p.Leu71Phe) n.599C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.15627397G>C | CA362868943 | DTNBP1 | c.301C>G (p.Leu101Val) c.250C>G (p.Leu84Val) c.*299C>G (n.*299C>G) c.*211C>G (n.*211C>G) c.196C>G (p.Leu66Val) c.58C>G (p.Leu20Val) n.629C>G c.262C>G (p.Leu88Val) c.211C>G (p.Leu71Val) n.599C>G | |
| 6 | g.15627397G= | CA1612384607 | DTNBP1 | c.301C= (p.Leu101=) c.250C= (p.Leu84=) c.*299C= (n.*299C=) c.*211C= (n.*211C=) c.196C= (p.Leu66=) c.58C= (p.Leu20=) n.629C= c.262C= (p.Leu88=) c.211C= (p.Leu71=) n.599C= | |
| 6 | g.15627397G>T | CA362868944 | DTNBP1 | c.301C>A (p.Leu101Ile) c.250C>A (p.Leu84Ile) c.*299C>A (n.*299C>A) c.*211C>A (n.*211C>A) c.196C>A (p.Leu66Ile) c.58C>A (p.Leu20Ile) n.629C>A c.262C>A (p.Leu88Ile) c.211C>A (p.Leu71Ile) n.599C>A | |
| 6 | g.15627399_15627407del | CA1612384606 | DTNBP1 | c.293_301del (p.Gln98_Gln100del) c.242_250del (p.Gln81_Gln83del) c.*291_*299del (n.*291_*299del) c.*203_*211del (n.*203_*211del) c.188_196del (p.Gln63_Gln65del) c.50_58del (p.Gln17_Gln19del) n.621_629del c.254_262del (p.Gln85_Gln87del) c.203_211del (p.Gln68_Gln70del) n.591_599del | dbSNP |
| 6 | g.15627398C>A | CA362868945 | DTNBP1 | c.300G>T (p.Gln100His) c.249G>T (p.Gln83His) c.*298G>T (n.*298G>T) c.*210G>T (n.*210G>T) c.195G>T (p.Gln65His) c.57G>T (p.Gln19His) n.628G>T c.261G>T (p.Gln87His) c.210G>T (p.Gln70His) n.598G>T | |
| 6 | g.15627398C>G | CA362868946 | DTNBP1 | c.300G>C (p.Gln100His) c.249G>C (p.Gln83His) c.*298G>C (n.*298G>C) c.*210G>C (n.*210G>C) c.195G>C (p.Gln65His) c.57G>C (p.Gln19His) n.628G>C c.261G>C (p.Gln87His) c.210G>C (p.Gln70His) n.598G>C | |
| 6 | g.15627398C>T | CA448827252 | DTNBP1 | c.300G>A (p.Gln100=) c.249G>A (p.Gln83=) c.*298G>A (n.*298G>A) c.*210G>A (n.*210G>A) c.195G>A (p.Gln65=) c.57G>A (p.Gln19=) n.628G>A c.261G>A (p.Gln87=) c.210G>A (p.Gln70=) n.598G>A | |
| 6 | g.15627399T>A | CA362868947 | DTNBP1 | c.299A>T (p.Gln100Leu) c.248A>T (p.Gln83Leu) c.*297A>T (n.*297A>T) c.*209A>T (n.*209A>T) c.194A>T (p.Gln65Leu) c.56A>T (p.Gln19Leu) n.627A>T c.260A>T (p.Gln87Leu) c.209A>T (p.Gln70Leu) n.597A>T | |
| 6 | g.15627399T>C | CA362868948 | DTNBP1 | c.299A>G (p.Gln100Arg) c.248A>G (p.Gln83Arg) c.*297A>G (n.*297A>G) c.*209A>G (n.*209A>G) c.194A>G (p.Gln65Arg) c.56A>G (p.Gln19Arg) n.627A>G c.260A>G (p.Gln87Arg) c.209A>G (p.Gln70Arg) n.597A>G | |
| 6 | g.15627399T>G | CA362868949 | DTNBP1 | c.299A>C (p.Gln100Pro) c.248A>C (p.Gln83Pro) c.*297A>C (n.*297A>C) c.*209A>C (n.*209A>C) c.194A>C (p.Gln65Pro) c.56A>C (p.Gln19Pro) n.627A>C c.260A>C (p.Gln87Pro) c.209A>C (p.Gln70Pro) n.597A>C | |
| 6 | g.15627400G>A | CA362868950 | DTNBP1 | c.298C>T (p.Gln100Ter) c.247C>T (p.Gln83Ter) c.*296C>T (n.*296C>T) c.*208C>T (n.*208C>T) c.193C>T (p.Gln65Ter) c.55C>T (p.Gln19Ter) n.626C>T c.259C>T (p.Gln87Ter) c.208C>T (p.Gln70Ter) n.596C>T | gnomAD v4 |
| 6 | g.15627400G>C | CA362868951 | DTNBP1 | c.298C>G (p.Gln100Glu) c.247C>G (p.Gln83Glu) c.*296C>G (n.*296C>G) c.*208C>G (n.*208C>G) c.193C>G (p.Gln65Glu) c.55C>G (p.Gln19Glu) n.626C>G c.259C>G (p.Gln87Glu) c.208C>G (p.Gln70Glu) n.596C>G | |
| 6 | g.15627400G>T | CA362868952 | DTNBP1 | c.298C>A (p.Gln100Lys) c.247C>A (p.Gln83Lys) c.*296C>A (n.*296C>A) c.*208C>A (n.*208C>A) c.193C>A (p.Gln65Lys) c.55C>A (p.Gln19Lys) n.626C>A c.259C>A (p.Gln87Lys) c.208C>A (p.Gln70Lys) n.596C>A | |
| 6 | g.15627401C>A | CA362868953 | DTNBP1 | c.297G>T (p.Glu99Asp) c.246G>T (p.Glu82Asp) c.*295G>T (n.*295G>T) c.*207G>T (n.*207G>T) c.192G>T (p.Glu64Asp) c.54G>T (p.Glu18Asp) n.625G>T c.258G>T (p.Glu86Asp) c.207G>T (p.Glu69Asp) n.595G>T | |
| 6 | g.15627401C>G | CA362868954 | DTNBP1 | c.297G>C (p.Glu99Asp) c.246G>C (p.Glu82Asp) c.*295G>C (n.*295G>C) c.*207G>C (n.*207G>C) c.192G>C (p.Glu64Asp) c.54G>C (p.Glu18Asp) n.625G>C c.258G>C (p.Glu86Asp) c.207G>C (p.Glu69Asp) n.595G>C | |
| 6 | g.15627401C>T | CA448827253 | DTNBP1 | c.297G>A (p.Glu99=) c.246G>A (p.Glu82=) c.*295G>A (n.*295G>A) c.*207G>A (n.*207G>A) c.192G>A (p.Glu64=) c.54G>A (p.Glu18=) n.625G>A c.258G>A (p.Glu86=) c.207G>A (p.Glu69=) n.595G>A | |
| 6 | g.15627402T>A | CA362868955 | DTNBP1 | c.296A>T (p.Glu99Val) c.245A>T (p.Glu82Val) c.*294A>T (n.*294A>T) c.*206A>T (n.*206A>T) c.191A>T (p.Glu64Val) c.53A>T (p.Glu18Val) n.624A>T c.257A>T (p.Glu86Val) c.206A>T (p.Glu69Val) n.594A>T | |
| 6 | g.15627402T>C | CA362868956 | DTNBP1 | c.296A>G (p.Glu99Gly) c.245A>G (p.Glu82Gly) c.*294A>G (n.*294A>G) c.*206A>G (n.*206A>G) c.191A>G (p.Glu64Gly) c.53A>G (p.Glu18Gly) n.624A>G c.257A>G (p.Glu86Gly) c.206A>G (p.Glu69Gly) n.594A>G | |
| 6 | g.15627402T>G | CA362868957 | DTNBP1 | c.296A>C (p.Glu99Ala) c.245A>C (p.Glu82Ala) c.*294A>C (n.*294A>C) c.*206A>C (n.*206A>C) c.191A>C (p.Glu64Ala) c.53A>C (p.Glu18Ala) n.624A>C c.257A>C (p.Glu86Ala) c.206A>C (p.Glu69Ala) n.594A>C | |
| 6 | g.15627403C>A | CA362868958 | DTNBP1 | c.295G>T (p.Glu99Ter) c.244G>T (p.Glu82Ter) c.*293G>T (n.*293G>T) c.*205G>T (n.*205G>T) c.190G>T (p.Glu64Ter) c.52G>T (p.Glu18Ter) n.623G>T c.256G>T (p.Glu86Ter) c.205G>T (p.Glu69Ter) n.593G>T | dbSNP gnomAD v2 |
| 6 | g.15627403C= | CA1612384608 | DTNBP1 | c.295G= (p.Glu99=) c.244G= (p.Glu82=) c.*293G= (n.*293G=) c.*205G= (n.*205G=) c.190G= (p.Glu64=) c.52G= (p.Glu18=) n.623G= c.256G= (p.Glu86=) c.205G= (p.Glu69=) n.593G= | |
| 6 | g.15627403C>G | CA362868959 | DTNBP1 | c.295G>C (p.Glu99Gln) c.244G>C (p.Glu82Gln) c.*293G>C (n.*293G>C) c.*205G>C (n.*205G>C) c.190G>C (p.Glu64Gln) c.52G>C (p.Glu18Gln) n.623G>C c.256G>C (p.Glu86Gln) c.205G>C (p.Glu69Gln) n.593G>C | |
| 6 | g.15627403C>T | CA362868960 | DTNBP1 | c.295G>A (p.Glu99Lys) c.244G>A (p.Glu82Lys) c.*293G>A (n.*293G>A) c.*205G>A (n.*205G>A) c.190G>A (p.Glu64Lys) c.52G>A (p.Glu18Lys) n.623G>A c.256G>A (p.Glu86Lys) c.205G>A (p.Glu69Lys) n.593G>A | COSMIC |
| 6 | g.15627404T>A | CA362868962 | DTNBP1 | c.294A>T (p.Gln98His) c.243A>T (p.Gln81His) c.*292A>T (n.*292A>T) c.*204A>T (n.*204A>T) c.189A>T (p.Gln63His) c.51A>T (p.Gln17His) n.622A>T c.255A>T (p.Gln85His) c.204A>T (p.Gln68His) n.592A>T |