Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.15627394_15627402dupCA565714628DTNBP1c.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
6g.15627394_15627402delCA2580614839DTNBP1c.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
6g.15627391G>ACA340087DTNBP1c.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
6g.15627391G>CCA362868931DTNBP1c.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
6g.15627391G=CA1612384602DTNBP1c.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=
6g.15627391G>TCA362868932DTNBP1c.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
6g.15627392C>ACA3644174DTNBP1c.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
6g.15627392C=CA1612384603DTNBP1c.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=
6g.15627392C>GCA362868933DTNBP1c.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
6g.15627392C>TCA448827248DTNBP1c.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
6g.15627393T>ACA362868934DTNBP1c.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
6g.15627393T>CCA362868935DTNBP1c.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
6g.15627393T>GCA362868936DTNBP1c.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
6g.15627394G>ACA362868937DTNBP1c.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
6g.15627394G>CCA362868938DTNBP1c.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
6g.15627394G>TCA362868939DTNBP1c.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
6g.15627394_15627414delinsGGAGCTGCTCTTGCAGCTCCACA1612384604DTNBP1c.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
6g.15627395G>ACA448827249DTNBP1c.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
6g.15627395G>CCA448827250DTNBP1c.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
6g.15627395G>TCA448827251DTNBP1c.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
6g.15627395_15627414delCA135264857DTNBP1c.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
6g.15627396A>CCA362868940DTNBP1c.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
6g.15627396A>GCA362868942DTNBP1c.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
6g.15627396A>TCA362868941DTNBP1c.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
6g.15627396_15627405delinsAGCTGCTCTTCA1612384605DTNBP1c.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
6g.15627397G>ACA3644175DTNBP1c.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
6g.15627397G>CCA362868943DTNBP1c.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
6g.15627397G=CA1612384607DTNBP1c.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=
6g.15627397G>TCA362868944DTNBP1c.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
6g.15627399_15627407delCA1612384606DTNBP1c.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
6g.15627398C>ACA362868945DTNBP1c.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
6g.15627398C>GCA362868946DTNBP1c.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
6g.15627398C>TCA448827252DTNBP1c.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
6g.15627399T>ACA362868947DTNBP1c.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
6g.15627399T>CCA362868948DTNBP1c.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
6g.15627399T>GCA362868949DTNBP1c.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
6g.15627400G>ACA362868950DTNBP1c.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
6g.15627400G>CCA362868951DTNBP1c.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
6g.15627400G>TCA362868952DTNBP1c.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
6g.15627401C>ACA362868953DTNBP1c.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
6g.15627401C>GCA362868954DTNBP1c.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
6g.15627401C>TCA448827253DTNBP1c.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
6g.15627402T>ACA362868955DTNBP1c.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
6g.15627402T>CCA362868956DTNBP1c.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
6g.15627402T>GCA362868957DTNBP1c.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
6g.15627403C>ACA362868958DTNBP1c.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
6g.15627403C=CA1612384608DTNBP1c.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=
6g.15627403C>GCA362868959DTNBP1c.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
6g.15627403C>TCA362868960DTNBP1c.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
6g.15627404T>ACA362868962DTNBP1c.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
6g.15627404T>CCA448827254DTNBP1c.294A>G (p.Gln98=)
c.243A>G (p.Gln81=)
c.*292A>G (n.*292A>G)
c.*204A>G (n.*204A>G)
c.189A>G (p.Gln63=)
c.51A>G (p.Gln17=)
n.622A>G
c.255A>G (p.Gln85=)
c.204A>G (p.Gln68=)
n.592A>G
 dbSNP gnomAD v4
6g.15627404T>GCA362868961DTNBP1c.294A>C (p.Gln98His)
c.243A>C (p.Gln81His)
c.*292A>C (n.*292A>C)
c.*204A>C (n.*204A>C)
c.189A>C (p.Gln63His)
c.51A>C (p.Gln17His)
n.622A>C
c.255A>C (p.Gln85His)
c.204A>C (p.Gln68His)
n.592A>C
6g.15627405T>ACA362868963DTNBP1c.293A>T (p.Gln98Leu)
c.242A>T (p.Gln81Leu)
c.*291A>T (n.*291A>T)
c.*203A>T (n.*203A>T)
c.188A>T (p.Gln63Leu)
c.50A>T (p.Gln17Leu)
n.621A>T
c.254A>T (p.Gln85Leu)
c.203A>T (p.Gln68Leu)
n.591A>T
6g.15627405T>CCA135264858DTNBP1c.293A>G (p.Gln98Arg)
c.242A>G (p.Gln81Arg)
c.*291A>G (n.*291A>G)
c.*203A>G (n.*203A>G)
c.188A>G (p.Gln63Arg)
c.50A>G (p.Gln17Arg)
n.621A>G
c.254A>G (p.Gln85Arg)
c.203A>G (p.Gln68Arg)
n.591A>G
 dbSNP gnomAD v3 gnomAD v4
6g.15627405T>GCA362868964DTNBP1c.293A>C (p.Gln98Pro)
c.242A>C (p.Gln81Pro)
c.*291A>C (n.*291A>C)
c.*203A>C (n.*203A>C)
c.188A>C (p.Gln63Pro)
c.50A>C (p.Gln17Pro)
n.621A>C
c.254A>C (p.Gln85Pro)
c.203A>C (p.Gln68Pro)
n.591A>C
6g.15627405T=CA1612384609DTNBP1c.293A= (p.Gln98=)
c.242A= (p.Gln81=)
c.*291A= (n.*291A=)
c.*203A= (n.*203A=)
c.188A= (p.Gln63=)
c.50A= (p.Gln17=)
n.621A=
c.254A= (p.Gln85=)
c.203A= (p.Gln68=)
n.591A=
6g.15627406G>ACA362868965DTNBP1c.292C>T (p.Gln98Ter)
c.241C>T (p.Gln81Ter)
c.*290C>T (n.*290C>T)
c.*202C>T (n.*202C>T)
c.187C>T (p.Gln63Ter)
c.49C>T (p.Gln17Ter)
n.620C>T
c.253C>T (p.Gln85Ter)
c.202C>T (p.Gln68Ter)
n.590C>T
6g.15627406G>CCA362868966DTNBP1c.292C>G (p.Gln98Glu)
c.241C>G (p.Gln81Glu)
c.*290C>G (n.*290C>G)
c.*202C>G (n.*202C>G)
c.187C>G (p.Gln63Glu)
c.49C>G (p.Gln17Glu)
n.620C>G
c.253C>G (p.Gln85Glu)
c.202C>G (p.Gln68Glu)
n.590C>G
6g.15627406G>TCA362868967DTNBP1c.292C>A (p.Gln98Lys)
c.241C>A (p.Gln81Lys)
c.*290C>A (n.*290C>A)
c.*202C>A (n.*202C>A)
c.187C>A (p.Gln63Lys)
c.49C>A (p.Gln17Lys)
n.620C>A
c.253C>A (p.Gln85Lys)
c.202C>A (p.Gln68Lys)
n.590C>A
6g.15627407C>ACA448827257DTNBP1c.291G>T (p.Leu97=)
c.240G>T (p.Leu80=)
c.*289G>T (n.*289G>T)
c.*201G>T (n.*201G>T)
c.186G>T (p.Leu62=)
c.48G>T (p.Leu16=)
n.619G>T
c.252G>T (p.Leu84=)
c.201G>T (p.Leu67=)
n.589G>T
6g.15627407C>GCA448827256DTNBP1c.291G>C (p.Leu97=)
c.240G>C (p.Leu80=)
c.*289G>C (n.*289G>C)
c.*201G>C (n.*201G>C)
c.186G>C (p.Leu62=)
c.48G>C (p.Leu16=)
n.619G>C
c.252G>C (p.Leu84=)
c.201G>C (p.Leu67=)
n.589G>C
6g.15627407C>TCA448827255DTNBP1c.291G>A (p.Leu97=)
c.240G>A (p.Leu80=)
c.*289G>A (n.*289G>A)
c.*201G>A (n.*201G>A)
c.186G>A (p.Leu62=)
c.48G>A (p.Leu16=)
n.619G>A
c.252G>A (p.Leu84=)
c.201G>A (p.Leu67=)
n.589G>A
 gnomAD v4
6g.15627408A>CCA362868970DTNBP1c.290T>G (p.Leu97Arg)
c.239T>G (p.Leu80Arg)
c.*288T>G (n.*288T>G)
c.*200T>G (n.*200T>G)
c.185T>G (p.Leu62Arg)
c.47T>G (p.Leu16Arg)
n.618T>G
c.251T>G (p.Leu84Arg)
c.200T>G (p.Leu67Arg)
n.588T>G
6g.15627408A>GCA362868968DTNBP1c.290T>C (p.Leu97Pro)
c.239T>C (p.Leu80Pro)
c.*288T>C (n.*288T>C)
c.*200T>C (n.*200T>C)
c.185T>C (p.Leu62Pro)
c.47T>C (p.Leu16Pro)
n.618T>C
c.251T>C (p.Leu84Pro)
c.200T>C (p.Leu67Pro)
n.588T>C
6g.15627408A>TCA362868969DTNBP1c.290T>A (p.Leu97Gln)
c.239T>A (p.Leu80Gln)
c.*288T>A (n.*288T>A)
c.*200T>A (n.*200T>A)
c.185T>A (p.Leu62Gln)
c.47T>A (p.Leu16Gln)
n.618T>A
c.251T>A (p.Leu84Gln)
c.200T>A (p.Leu67Gln)
n.588T>A
6g.15627409G>ACA448827258DTNBP1c.289C>T (p.Leu97=)
c.238C>T (p.Leu80=)
c.*287C>T (n.*287C>T)
c.*199C>T (n.*199C>T)
c.184C>T (p.Leu62=)
c.46C>T (p.Leu16=)
n.617C>T
c.250C>T (p.Leu84=)
c.199C>T (p.Leu67=)
n.587C>T
 dbSNP gnomAD v2 gnomAD v4
6g.15627409G>CCA3644177DTNBP1c.289C>G (p.Leu97Val)
c.238C>G (p.Leu80Val)
c.*287C>G (n.*287C>G)
c.*199C>G (n.*199C>G)
c.184C>G (p.Leu62Val)
c.46C>G (p.Leu16Val)
n.617C>G
c.250C>G (p.Leu84Val)
c.199C>G (p.Leu67Val)
n.587C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627409G=CA1612384610DTNBP1c.289C= (p.Leu97=)
c.238C= (p.Leu80=)
c.*287C= (n.*287C=)
c.*199C= (n.*199C=)
c.184C= (p.Leu62=)
c.46C= (p.Leu16=)
n.617C=
c.250C= (p.Leu84=)
c.199C= (p.Leu67=)
n.587C=
6g.15627409G>TCA3644176DTNBP1c.289C>A (p.Leu97Met)
c.238C>A (p.Leu80Met)
c.*287C>A (n.*287C>A)
c.*199C>A (n.*199C>A)
c.184C>A (p.Leu62Met)
c.46C>A (p.Leu16Met)
n.617C>A
c.250C>A (p.Leu84Met)
c.199C>A (p.Leu67Met)
n.587C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627410C>ACA362868971DTNBP1c.288G>T (p.Glu96Asp)
c.237G>T (p.Glu79Asp)
c.*286G>T (n.*286G>T)
c.*198G>T (n.*198G>T)
c.183G>T (p.Glu61Asp)
c.45G>T (p.Glu15Asp)
n.616G>T
c.249G>T (p.Glu83Asp)
c.198G>T (p.Glu66Asp)
n.586G>T
6g.15627410C=CA1612384611DTNBP1c.288G= (p.Glu96=)
c.237G= (p.Glu79=)
c.*286G= (n.*286G=)
c.*198G= (n.*198G=)
c.183G= (p.Glu61=)
c.45G= (p.Glu15=)
n.616G=
c.249G= (p.Glu83=)
c.198G= (p.Glu66=)
n.586G=
6g.15627410C>GCA362868972DTNBP1c.288G>C (p.Glu96Asp)
c.237G>C (p.Glu79Asp)
c.*286G>C (n.*286G>C)
c.*198G>C (n.*198G>C)
c.183G>C (p.Glu61Asp)
c.45G>C (p.Glu15Asp)
n.616G>C
c.249G>C (p.Glu83Asp)
c.198G>C (p.Glu66Asp)
n.586G>C
 dbSNP
6g.15627410C>TCA448827259DTNBP1c.288G>A (p.Glu96=)
c.237G>A (p.Glu79=)
c.*286G>A (n.*286G>A)
c.*198G>A (n.*198G>A)
c.183G>A (p.Glu61=)
c.45G>A (p.Glu15=)
n.616G>A
c.249G>A (p.Glu83=)
c.198G>A (p.Glu66=)
n.586G>A
 dbSNP gnomAD v3 gnomAD v4
6g.15627411T>ACA362868973DTNBP1c.287A>T (p.Glu96Val)
c.236A>T (p.Glu79Val)
c.*285A>T (n.*285A>T)
c.*197A>T (n.*197A>T)
c.182A>T (p.Glu61Val)
c.44A>T (p.Glu15Val)
n.615A>T
c.248A>T (p.Glu83Val)
c.197A>T (p.Glu66Val)
n.585A>T
6g.15627411T>CCA362868974DTNBP1c.287A>G (p.Glu96Gly)
c.236A>G (p.Glu79Gly)
c.*285A>G (n.*285A>G)
c.*197A>G (n.*197A>G)
c.182A>G (p.Glu61Gly)
c.44A>G (p.Glu15Gly)
n.615A>G
c.248A>G (p.Glu83Gly)
c.197A>G (p.Glu66Gly)
n.585A>G
6g.15627411T>GCA362868975DTNBP1c.287A>C (p.Glu96Ala)
c.236A>C (p.Glu79Ala)
c.*285A>C (n.*285A>C)
c.*197A>C (n.*197A>C)
c.182A>C (p.Glu61Ala)
c.44A>C (p.Glu15Ala)
n.615A>C
c.248A>C (p.Glu83Ala)
c.197A>C (p.Glu66Ala)
n.585A>C
6g.15627412C>ACA362868976DTNBP1c.286G>T (p.Glu96Ter)
c.235G>T (p.Glu79Ter)
c.*284G>T (n.*284G>T)
c.*196G>T (n.*196G>T)
c.181G>T (p.Glu61Ter)
c.43G>T (p.Glu15Ter)
n.614G>T
c.247G>T (p.Glu83Ter)
c.196G>T (p.Glu66Ter)
n.584G>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
6g.15627412C=CA1612384612DTNBP1c.286G= (p.Glu96=)
c.235G= (p.Glu79=)
c.*284G= (n.*284G=)
c.*196G= (n.*196G=)
c.181G= (p.Glu61=)
c.43G= (p.Glu15=)
n.614G=
c.247G= (p.Glu83=)
c.196G= (p.Glu66=)
n.584G=
6g.15627412C>GCA362868977DTNBP1c.286G>C (p.Glu96Gln)
c.235G>C (p.Glu79Gln)
c.*284G>C (n.*284G>C)
c.*196G>C (n.*196G>C)
c.181G>C (p.Glu61Gln)
c.43G>C (p.Glu15Gln)
n.614G>C
c.247G>C (p.Glu83Gln)
c.196G>C (p.Glu66Gln)
n.584G>C
 dbSNP gnomAD v2
6g.15627412C>TCA362868978DTNBP1c.286G>A (p.Glu96Lys)
c.235G>A (p.Glu79Lys)
c.*284G>A (n.*284G>A)
c.*196G>A (n.*196G>A)
c.181G>A (p.Glu61Lys)
c.43G>A (p.Glu15Lys)
n.614G>A
c.247G>A (p.Glu83Lys)
c.196G>A (p.Glu66Lys)
n.584G>A
 ClinVar dbSNP gnomAD v2
6g.15627413C>ACA448827260DTNBP1c.285G>T (p.Val95=)
c.234G>T (p.Val78=)
c.*283G>T (n.*283G>T)
c.*195G>T (n.*195G>T)
c.180G>T (p.Val60=)
c.42G>T (p.Val14=)
n.613G>T
c.246G>T (p.Val82=)
c.195G>T (p.Val65=)
n.583G>T
6g.15627413C>GCA448827261DTNBP1c.285G>C (p.Val95=)
c.234G>C (p.Val78=)
c.*283G>C (n.*283G>C)
c.*195G>C (n.*195G>C)
c.180G>C (p.Val60=)
c.42G>C (p.Val14=)
n.613G>C
c.246G>C (p.Val82=)
c.195G>C (p.Val65=)
n.583G>C
6g.15627413C>TCA448827262DTNBP1c.285G>A (p.Val95=)
c.234G>A (p.Val78=)
c.*283G>A (n.*283G>A)
c.*195G>A (n.*195G>A)
c.180G>A (p.Val60=)
c.42G>A (p.Val14=)
n.613G>A
c.246G>A (p.Val82=)
c.195G>A (p.Val65=)
n.583G>A
6g.15627414_15627415dupCA1612384613DTNBP1c.284_285dup (p.Glu96TrpfsTer13)
c.233_234dup (p.Glu79TrpfsTer13)
c.*282_*283dup (n.*282_*283dup)
c.*194_*195dup (n.*194_*195dup)
c.179_180dup (p.Glu61TrpfsTer13)
c.41_42dup (p.Glu15TrpfsTer13)
n.612_613dup
c.245_246dup (p.Glu83TrpfsTer13)
c.194_195dup (p.Glu66TrpfsTer13)
n.582_583dup
 dbSNP
6g.15627414A=CA1612384614DTNBP1c.284T= (p.Val95=)
c.233T= (p.Val78=)
c.*282T= (n.*282T=)
c.*194T= (n.*194T=)
c.179T= (p.Val60=)
c.41T= (p.Val14=)
n.612T=
c.245T= (p.Val82=)
c.194T= (p.Val65=)
n.582T=
6g.15627414A>CCA362868979DTNBP1c.284T>G (p.Val95Gly)
c.233T>G (p.Val78Gly)
c.*282T>G (n.*282T>G)
c.*194T>G (n.*194T>G)
c.179T>G (p.Val60Gly)
c.41T>G (p.Val14Gly)
n.612T>G
c.245T>G (p.Val82Gly)
c.194T>G (p.Val65Gly)
n.582T>G
 dbSNP
6g.15627414A>GCA362868980DTNBP1c.284T>C (p.Val95Ala)
c.233T>C (p.Val78Ala)
c.*282T>C (n.*282T>C)
c.*194T>C (n.*194T>C)
c.179T>C (p.Val60Ala)
c.41T>C (p.Val14Ala)
n.612T>C
c.245T>C (p.Val82Ala)
c.194T>C (p.Val65Ala)
n.582T>C
 gnomAD v4
6g.15627414A>TCA362868981DTNBP1c.284T>A (p.Val95Glu)
c.233T>A (p.Val78Glu)
c.*282T>A (n.*282T>A)
c.*194T>A (n.*194T>A)
c.179T>A (p.Val60Glu)
c.41T>A (p.Val14Glu)
n.612T>A
c.245T>A (p.Val82Glu)
c.194T>A (p.Val65Glu)
n.582T>A
6g.15627415C>ACA362868982DTNBP1c.283G>T (p.Val95Leu)
c.232G>T (p.Val78Leu)
c.*281G>T (n.*281G>T)
c.*193G>T (n.*193G>T)
c.178G>T (p.Val60Leu)
c.40G>T (p.Val14Leu)
n.611G>T
c.244G>T (p.Val82Leu)
c.193G>T (p.Val65Leu)
n.581G>T
6g.15627415C=CA1612384615DTNBP1c.283G= (p.Val95=)
c.232G= (p.Val78=)
c.*281G= (n.*281G=)
c.*193G= (n.*193G=)
c.178G= (p.Val60=)
c.40G= (p.Val14=)
n.611G=
c.244G= (p.Val82=)
c.193G= (p.Val65=)
n.581G=
6g.15627415C>GCA135264859DTNBP1c.283G>C (p.Val95Leu)
c.232G>C (p.Val78Leu)
c.*281G>C (n.*281G>C)
c.*193G>C (n.*193G>C)
c.178G>C (p.Val60Leu)
c.40G>C (p.Val14Leu)
n.611G>C
c.244G>C (p.Val82Leu)
c.193G>C (p.Val65Leu)
n.581G>C
 dbSNP
6g.15627415C>TCA3644178DTNBP1c.283G>A (p.Val95Met)
c.232G>A (p.Val78Met)
c.*281G>A (n.*281G>A)
c.*193G>A (n.*193G>A)
c.178G>A (p.Val60Met)
c.40G>A (p.Val14Met)
n.611G>A
c.244G>A (p.Val82Met)
c.193G>A (p.Val65Met)
n.581G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.15627416G>ACA3644180DTNBP1c.282C>T (p.Leu94=)
c.231C>T (p.Leu77=)
c.*280C>T (n.*280C>T)
c.*192C>T (n.*192C>T)
c.177C>T (p.Leu59=)
c.39C>T (p.Leu13=)
n.610C>T
c.243C>T (p.Leu81=)
c.192C>T (p.Leu64=)
n.580C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627416G>CCA3644179DTNBP1c.282C>G (p.Leu94=)
c.231C>G (p.Leu77=)
c.*280C>G (n.*280C>G)
c.*192C>G (n.*192C>G)
c.177C>G (p.Leu59=)
c.39C>G (p.Leu13=)
n.610C>G
c.243C>G (p.Leu81=)
c.192C>G (p.Leu64=)
n.580C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627416G=CA1612384616DTNBP1c.282C= (p.Leu94=)
c.231C= (p.Leu77=)
c.*280C= (n.*280C=)
c.*192C= (n.*192C=)
c.177C= (p.Leu59=)
c.39C= (p.Leu13=)
n.610C=
c.243C= (p.Leu81=)
c.192C= (p.Leu64=)
n.580C=
6g.15627416G>TCA448827263DTNBP1c.282C>A (p.Leu94=)
c.231C>A (p.Leu77=)
c.*280C>A (n.*280C>A)
c.*192C>A (n.*192C>A)
c.177C>A (p.Leu59=)
c.39C>A (p.Leu13=)
n.610C>A
c.243C>A (p.Leu81=)
c.192C>A (p.Leu64=)
n.580C>A
6g.15627417A>CCA362868983DTNBP1c.281T>G (p.Leu94Arg)
c.230T>G (p.Leu77Arg)
c.*279T>G (n.*279T>G)
c.*191T>G (n.*191T>G)
c.176T>G (p.Leu59Arg)
c.38T>G (p.Leu13Arg)
n.609T>G
c.242T>G (p.Leu81Arg)
c.191T>G (p.Leu64Arg)
n.579T>G
6g.15627417A>GCA362868984DTNBP1c.281T>C (p.Leu94Pro)
c.230T>C (p.Leu77Pro)
c.*279T>C (n.*279T>C)
c.*191T>C (n.*191T>C)
c.176T>C (p.Leu59Pro)
c.38T>C (p.Leu13Pro)
n.609T>C
c.242T>C (p.Leu81Pro)
c.191T>C (p.Leu64Pro)
n.579T>C
6g.15627417A>TCA362868985DTNBP1c.281T>A (p.Leu94His)
c.230T>A (p.Leu77His)
c.*279T>A (n.*279T>A)
c.*191T>A (n.*191T>A)
c.176T>A (p.Leu59His)
c.38T>A (p.Leu13His)
n.609T>A
c.242T>A (p.Leu81His)
c.191T>A (p.Leu64His)
n.579T>A
6g.15627418G>ACA3644181DTNBP1c.280C>T (p.Leu94Phe)
c.229C>T (p.Leu77Phe)
c.*278C>T (n.*278C>T)
c.*190C>T (n.*190C>T)
c.175C>T (p.Leu59Phe)
c.37C>T (p.Leu13Phe)
n.608C>T
c.241C>T (p.Leu81Phe)
c.190C>T (p.Leu64Phe)
n.578C>T
 dbSNP ExAC gnomAD v2
6g.15627418G>CCA362868986DTNBP1c.280C>G (p.Leu94Val)
c.229C>G (p.Leu77Val)
c.*278C>G (n.*278C>G)
c.*190C>G (n.*190C>G)
c.175C>G (p.Leu59Val)
c.37C>G (p.Leu13Val)
n.608C>G
c.241C>G (p.Leu81Val)
c.190C>G (p.Leu64Val)
n.578C>G
6g.15627418G=CA1612384617DTNBP1c.280C= (p.Leu94=)
c.229C= (p.Leu77=)
c.*278C= (n.*278C=)
c.*190C= (n.*190C=)
c.175C= (p.Leu59=)
c.37C= (p.Leu13=)
n.608C=
c.241C= (p.Leu81=)
c.190C= (p.Leu64=)
n.578C=
6g.15627418G>TCA362868987DTNBP1c.280C>A (p.Leu94Ile)
c.229C>A (p.Leu77Ile)
c.*278C>A (n.*278C>A)
c.*190C>A (n.*190C>A)
c.175C>A (p.Leu59Ile)
c.37C>A (p.Leu13Ile)
n.608C>A
c.241C>A (p.Leu81Ile)
c.190C>A (p.Leu64Ile)
n.578C>A
6g.15627419G>ACA448827264DTNBP1c.279C>T (p.Ser93=)
c.228C>T (p.Ser76=)
c.*277C>T (n.*277C>T)
c.*189C>T (n.*189C>T)
c.174C>T (p.Ser58=)
c.36C>T (p.Ser12=)
n.607C>T
c.240C>T (p.Ser80=)
c.189C>T (p.Ser63=)
n.577C>T
 gnomAD v4
6g.15627419G>CCA362868988DTNBP1c.279C>G (p.Ser93Arg)
c.228C>G (p.Ser76Arg)
c.*277C>G (n.*277C>G)
c.*189C>G (n.*189C>G)
c.174C>G (p.Ser58Arg)
c.36C>G (p.Ser12Arg)
n.607C>G
c.240C>G (p.Ser80Arg)
c.189C>G (p.Ser63Arg)
n.577C>G
6g.15627419G>TCA362868989DTNBP1c.279C>A (p.Ser93Arg)
c.228C>A (p.Ser76Arg)
c.*277C>A (n.*277C>A)
c.*189C>A (n.*189C>A)
c.174C>A (p.Ser58Arg)
c.36C>A (p.Ser12Arg)
n.607C>A
c.240C>A (p.Ser80Arg)
c.189C>A (p.Ser63Arg)
n.577C>A
6g.15627419_15627420insTTAGAATCCA2677408228DTNBP1c.278_279insGATTCTAA (p.Ser93ArgfsTer18)
c.227_228insGATTCTAA (p.Ser76ArgfsTer18)
c.*276_*277insGATTCTAA (n.*276_*277insGATTCTAA)
c.*188_*189insGATTCTAA (n.*188_*189insGATTCTAA)
c.173_174insGATTCTAA (p.Ser58ArgfsTer18)
c.35_36insGATTCTAA (p.Ser12ArgfsTer18)
n.606_607insGATTCTAA
c.239_240insGATTCTAA (p.Ser80ArgfsTer18)
c.188_189insGATTCTAA (p.Ser63ArgfsTer18)
n.576_577insGATTCTAA
 gnomAD v4
6g.15627420C>ACA362868990DTNBP1c.278G>T (p.Ser93Ile)
c.227G>T (p.Ser76Ile)
c.*276G>T (n.*276G>T)
c.*188G>T (n.*188G>T)
c.173G>T (p.Ser58Ile)
c.35G>T (p.Ser12Ile)
n.606G>T
c.239G>T (p.Ser80Ile)
c.188G>T (p.Ser63Ile)
n.576G>T
 gnomAD v4
6g.15627420C>GCA362868991DTNBP1c.278G>C (p.Ser93Thr)
c.227G>C (p.Ser76Thr)
c.*276G>C (n.*276G>C)
c.*188G>C (n.*188G>C)
c.173G>C (p.Ser58Thr)
c.35G>C (p.Ser12Thr)
n.606G>C
c.239G>C (p.Ser80Thr)
c.188G>C (p.Ser63Thr)
n.576G>C
6g.15627420C>TCA362868992DTNBP1c.278G>A (p.Ser93Asn)
c.227G>A (p.Ser76Asn)
c.*276G>A (n.*276G>A)
c.*188G>A (n.*188G>A)
c.173G>A (p.Ser58Asn)
c.35G>A (p.Ser12Asn)
n.606G>A
c.239G>A (p.Ser80Asn)
c.188G>A (p.Ser63Asn)
n.576G>A
6g.15627421T>ACA362868993DTNBP1c.277A>T (p.Ser93Cys)
c.226A>T (p.Ser76Cys)
c.*275A>T (n.*275A>T)
c.*187A>T (n.*187A>T)
c.172A>T (p.Ser58Cys)
c.34A>T (p.Ser12Cys)
n.605A>T
c.238A>T (p.Ser80Cys)
c.187A>T (p.Ser63Cys)
n.575A>T
6g.15627421T>CCA362868995DTNBP1c.277A>G (p.Ser93Gly)
c.226A>G (p.Ser76Gly)
c.*275A>G (n.*275A>G)
c.*187A>G (n.*187A>G)
c.172A>G (p.Ser58Gly)
c.34A>G (p.Ser12Gly)
n.605A>G
c.238A>G (p.Ser80Gly)
c.187A>G (p.Ser63Gly)
n.575A>G
6g.15627421T>GCA362868994DTNBP1c.277A>C (p.Ser93Arg)
c.226A>C (p.Ser76Arg)
c.*275A>C (n.*275A>C)
c.*187A>C (n.*187A>C)
c.172A>C (p.Ser58Arg)
c.34A>C (p.Ser12Arg)
n.605A>C
c.238A>C (p.Ser80Arg)
c.187A>C (p.Ser63Arg)
n.575A>C
6g.15627421_15627423delinsTTGCA1612384618DTNBP1c.275_277delinsCAA (p.Thr92=)
c.224_226delinsCAA (p.Thr75=)
c.*273_*275delinsCAA (n.*273_*275delinsCAA)
c.*185_*187delinsCAA (n.*185_*187delinsCAA)
c.170_172delinsCAA (p.Thr57=)
c.32_34delinsCAA (p.Thr11=)
n.603_605delinsCAA
c.236_238delinsCAA (p.Thr79=)
c.185_187delinsCAA (p.Thr62=)
n.573_575delinsCAA
6g.15627421_15627422insAATTGGGAACGAACATACAATATATTCTATGAAAGACTTATAGAGACCA2677408229DTNBP1c.276_277insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser93ValfsTer7)
c.225_226insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser76ValfsTer7)
c.*274_*275insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (n.*274_*275insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT)
c.*186_*187insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (n.*186_*187insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT)
c.171_172insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser58ValfsTer7)
c.33_34insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser12ValfsTer7)
n.604_605insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT
c.237_238insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser80ValfsTer7)
c.186_187insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT (p.Ser63ValfsTer7)
n.574_575insGTCTCTATAAGTCTTTCATAGAATATATTGTATGTTCGTTCCCAATT
 gnomAD v4
6g.15627422T>ACA448827265DTNBP1c.276A>T (p.Thr92=)
c.225A>T (p.Thr75=)
c.*274A>T (n.*274A>T)
c.*186A>T (n.*186A>T)
c.171A>T (p.Thr57=)
c.33A>T (p.Thr11=)
n.604A>T
c.237A>T (p.Thr79=)
c.186A>T (p.Thr62=)
n.574A>T
6g.15627422T>CCA3644182DTNBP1c.276A>G (p.Thr92=)
c.225A>G (p.Thr75=)
c.*274A>G (n.*274A>G)
c.*186A>G (n.*186A>G)
c.171A>G (p.Thr57=)
c.33A>G (p.Thr11=)
n.604A>G
c.237A>G (p.Thr79=)
c.186A>G (p.Thr62=)
n.574A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627422T>GCA448827266DTNBP1c.276A>C (p.Thr92=)
c.225A>C (p.Thr75=)
c.*274A>C (n.*274A>C)
c.*186A>C (n.*186A>C)
c.171A>C (p.Thr57=)
c.33A>C (p.Thr11=)
n.604A>C
c.237A>C (p.Thr79=)
c.186A>C (p.Thr62=)
n.574A>C
6g.15627422T=CA1612384619DTNBP1c.276A= (p.Thr92=)
c.225A= (p.Thr75=)
c.*274A= (n.*274A=)
c.*186A= (n.*186A=)
c.171A= (p.Thr57=)
c.33A= (p.Thr11=)
n.604A=
c.237A= (p.Thr79=)
c.186A= (p.Thr62=)
n.574A=
6g.15627423_15627424delCA565714629DTNBP1c.275_276del (p.Thr92LysfsTer?)
c.224_225del (p.Thr75LysfsTer?)
c.*273_*274del (n.*273_*274del)
c.*185_*186del (n.*185_*186del)
c.170_171del (p.Thr57LysfsTer?)
c.32_33del (p.Thr11LysfsTer?)
n.603_604del
c.236_237del (p.Thr79LysfsTer?)
c.185_186del (p.Thr62LysfsTer?)
n.573_574del
 dbSNP gnomAD v2 gnomAD v4
6g.15627423G>ACA135264860DTNBP1c.275C>T (p.Thr92Ile)
c.224C>T (p.Thr75Ile)
c.*273C>T (n.*273C>T)
c.*185C>T (n.*185C>T)
c.170C>T (p.Thr57Ile)
c.32C>T (p.Thr11Ile)
n.603C>T
c.236C>T (p.Thr79Ile)
c.185C>T (p.Thr62Ile)
n.573C>T
 dbSNP gnomAD v3 gnomAD v4
6g.15627423G>CCA362868996DTNBP1c.275C>G (p.Thr92Arg)
c.224C>G (p.Thr75Arg)
c.*273C>G (n.*273C>G)
c.*185C>G (n.*185C>G)
c.170C>G (p.Thr57Arg)
c.32C>G (p.Thr11Arg)
n.603C>G
c.236C>G (p.Thr79Arg)
c.185C>G (p.Thr62Arg)
n.573C>G
6g.15627423G=CA1612384621DTNBP1c.275C= (p.Thr92=)
c.224C= (p.Thr75=)
c.*273C= (n.*273C=)
c.*185C= (n.*185C=)
c.170C= (p.Thr57=)
c.32C= (p.Thr11=)
n.603C=
c.236C= (p.Thr79=)
c.185C= (p.Thr62=)
n.573C=
6g.15627423G>TCA362868997DTNBP1c.275C>A (p.Thr92Lys)
c.224C>A (p.Thr75Lys)
c.*273C>A (n.*273C>A)
c.*185C>A (n.*185C>A)
c.170C>A (p.Thr57Lys)
c.32C>A (p.Thr11Lys)
n.603C>A
c.236C>A (p.Thr79Lys)
c.185C>A (p.Thr62Lys)
n.573C>A
 dbSNP
6g.15627423_15627427delinsGTCTTCA1612384620DTNBP1c.271_275delinsAAGAC (p.Lys91=)
c.220_224delinsAAGAC (p.Lys74=)
c.*269_*273delinsAAGAC (n.*269_*273delinsAAGAC)
c.*181_*185delinsAAGAC (n.*181_*185delinsAAGAC)
c.166_170delinsAAGAC (p.Lys56=)
c.28_32delinsAAGAC (p.Lys10=)
n.599_603delinsAAGAC
c.232_236delinsAAGAC (p.Lys78=)
c.181_185delinsAAGAC (p.Lys61=)
n.569_573delinsAAGAC
6g.15627424T>ACA362868998DTNBP1c.274A>T (p.Thr92Ser)
c.223A>T (p.Thr75Ser)
c.*272A>T (n.*272A>T)
c.*184A>T (n.*184A>T)
c.169A>T (p.Thr57Ser)
c.31A>T (p.Thr11Ser)
n.602A>T
c.235A>T (p.Thr79Ser)
c.184A>T (p.Thr62Ser)
n.572A>T
6g.15627424T>CCA362868999DTNBP1c.274A>G (p.Thr92Ala)
c.223A>G (p.Thr75Ala)
c.*272A>G (n.*272A>G)
c.*184A>G (n.*184A>G)
c.169A>G (p.Thr57Ala)
c.31A>G (p.Thr11Ala)
n.602A>G
c.235A>G (p.Thr79Ala)
c.184A>G (p.Thr62Ala)
n.572A>G
6g.15627424T>GCA362869000DTNBP1c.274A>C (p.Thr92Pro)
c.223A>C (p.Thr75Pro)
c.*272A>C (n.*272A>C)
c.*184A>C (n.*184A>C)
c.169A>C (p.Thr57Pro)
c.31A>C (p.Thr11Pro)
n.602A>C
c.235A>C (p.Thr79Pro)
c.184A>C (p.Thr62Pro)
n.572A>C
6g.15627425_15627428delCA3644183DTNBP1c.271_274del (p.Lys91GlnfsTer16)
c.220_223del (p.Lys74GlnfsTer16)
c.*269_*272del (n.*269_*272del)
c.*181_*184del (n.*181_*184del)
c.166_169del (p.Lys56GlnfsTer16)
c.28_31del (p.Lys10GlnfsTer16)
n.599_602del
c.232_235del (p.Lys78GlnfsTer16)
c.181_184del (p.Lys61GlnfsTer16)
n.569_572del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627425C>ACA362869001DTNBP1c.273G>T (p.Lys91Asn)
c.222G>T (p.Lys74Asn)
c.*271G>T (n.*271G>T)
c.*183G>T (n.*183G>T)
c.168G>T (p.Lys56Asn)
c.30G>T (p.Lys10Asn)
n.601G>T
c.234G>T (p.Lys78Asn)
c.183G>T (p.Lys61Asn)
n.571G>T
 COSMIC COSMIC COSMIC
6g.15627425C=CA1612384622DTNBP1c.273G= (p.Lys91=)
c.222G= (p.Lys74=)
c.*271G= (n.*271G=)
c.*183G= (n.*183G=)
c.168G= (p.Lys56=)
c.30G= (p.Lys10=)
n.601G=
c.234G= (p.Lys78=)
c.183G= (p.Lys61=)
n.571G=
6g.15627425C>GCA362869002DTNBP1c.273G>C (p.Lys91Asn)
c.222G>C (p.Lys74Asn)
c.*271G>C (n.*271G>C)
c.*183G>C (n.*183G>C)
c.168G>C (p.Lys56Asn)
c.30G>C (p.Lys10Asn)
n.601G>C
c.234G>C (p.Lys78Asn)
c.183G>C (p.Lys61Asn)
n.571G>C
6g.15627425C>TCA448827267DTNBP1c.273G>A (p.Lys91=)
c.222G>A (p.Lys74=)
c.*271G>A (n.*271G>A)
c.*183G>A (n.*183G>A)
c.168G>A (p.Lys56=)
c.30G>A (p.Lys10=)
n.601G>A
c.234G>A (p.Lys78=)
c.183G>A (p.Lys61=)
n.571G>A
 dbSNP gnomAD v2 gnomAD v4
6g.15627426T>ACA362869005DTNBP1c.272A>T (p.Lys91Met)
c.221A>T (p.Lys74Met)
c.*270A>T (n.*270A>T)
c.*182A>T (n.*182A>T)
c.167A>T (p.Lys56Met)
c.29A>T (p.Lys10Met)
n.600A>T
c.233A>T (p.Lys78Met)
c.182A>T (p.Lys61Met)
n.570A>T
6g.15627426T>CCA362869004DTNBP1c.272A>G (p.Lys91Arg)
c.221A>G (p.Lys74Arg)
c.*270A>G (n.*270A>G)
c.*182A>G (n.*182A>G)
c.167A>G (p.Lys56Arg)
c.29A>G (p.Lys10Arg)
n.600A>G
c.233A>G (p.Lys78Arg)
c.182A>G (p.Lys61Arg)
n.570A>G
6g.15627426T>GCA362869003DTNBP1c.272A>C (p.Lys91Thr)
c.221A>C (p.Lys74Thr)
c.*270A>C (n.*270A>C)
c.*182A>C (n.*182A>C)
c.167A>C (p.Lys56Thr)
c.29A>C (p.Lys10Thr)
n.600A>C
c.233A>C (p.Lys78Thr)
c.182A>C (p.Lys61Thr)
n.570A>C
6g.15627430delCA2677408230DTNBP1c.272del (p.Lys91ArgfsTer17)
c.221del (p.Lys74ArgfsTer17)
c.*270del (n.*270del)
c.*182del (n.*182del)
c.167del (p.Lys56ArgfsTer17)
c.29del (p.Lys10ArgfsTer17)
n.600del
c.233del (p.Lys78ArgfsTer17)
c.182del (p.Lys61ArgfsTer17)
n.570del
 gnomAD v4
6g.15627427T>ACA362869006DTNBP1c.271A>T (p.Lys91Ter)
c.220A>T (p.Lys74Ter)
c.*269A>T (n.*269A>T)
c.*181A>T (n.*181A>T)
c.166A>T (p.Lys56Ter)
c.28A>T (p.Lys10Ter)
n.599A>T
c.232A>T (p.Lys78Ter)
c.181A>T (p.Lys61Ter)
n.569A>T
6g.15627427T>CCA362869007DTNBP1c.271A>G (p.Lys91Glu)
c.220A>G (p.Lys74Glu)
c.*269A>G (n.*269A>G)
c.*181A>G (n.*181A>G)
c.166A>G (p.Lys56Glu)
c.28A>G (p.Lys10Glu)
n.599A>G
c.232A>G (p.Lys78Glu)
c.181A>G (p.Lys61Glu)
n.569A>G
6g.15627427T>GCA362869008DTNBP1c.271A>C (p.Lys91Gln)
c.220A>C (p.Lys74Gln)
c.*269A>C (n.*269A>C)
c.*181A>C (n.*181A>C)
c.166A>C (p.Lys56Gln)
c.28A>C (p.Lys10Gln)
n.599A>C
c.232A>C (p.Lys78Gln)
c.181A>C (p.Lys61Gln)
n.569A>C
6g.15627428T>ACA362869009DTNBP1c.270A>T (p.Lys90Asn)
c.219A>T (p.Lys73Asn)
c.*268A>T (n.*268A>T)
c.*180A>T (n.*180A>T)
c.165A>T (p.Lys55Asn)
c.27A>T (p.Lys9Asn)
n.598A>T
c.231A>T (p.Lys77Asn)
c.180A>T (p.Lys60Asn)
n.568A>T
6g.15627428T>CCA448827268DTNBP1c.270A>G (p.Lys90=)
c.219A>G (p.Lys73=)
c.*268A>G (n.*268A>G)
c.*180A>G (n.*180A>G)
c.165A>G (p.Lys55=)
c.27A>G (p.Lys9=)
n.598A>G
c.231A>G (p.Lys77=)
c.180A>G (p.Lys60=)
n.568A>G
6g.15627428T>GCA362869010DTNBP1c.270A>C (p.Lys90Asn)
c.219A>C (p.Lys73Asn)
c.*268A>C (n.*268A>C)
c.*180A>C (n.*180A>C)
c.165A>C (p.Lys55Asn)
c.27A>C (p.Lys9Asn)
n.598A>C
c.231A>C (p.Lys77Asn)
c.180A>C (p.Lys60Asn)
n.568A>C
6g.15627429T>ACA362869011DTNBP1c.269A>T (p.Lys90Ile)
c.218A>T (p.Lys73Ile)
c.*267A>T (n.*267A>T)
c.*179A>T (n.*179A>T)
c.164A>T (p.Lys55Ile)
c.26A>T (p.Lys9Ile)
n.597A>T
c.230A>T (p.Lys77Ile)
c.179A>T (p.Lys60Ile)
n.567A>T
6g.15627429T>CCA362869012DTNBP1c.269A>G (p.Lys90Arg)
c.218A>G (p.Lys73Arg)
c.*267A>G (n.*267A>G)
c.*179A>G (n.*179A>G)
c.164A>G (p.Lys55Arg)
c.26A>G (p.Lys9Arg)
n.597A>G
c.230A>G (p.Lys77Arg)
c.179A>G (p.Lys60Arg)
n.567A>G
6g.15627429T>GCA362869013DTNBP1c.269A>C (p.Lys90Thr)
c.218A>C (p.Lys73Thr)
c.*267A>C (n.*267A>C)
c.*179A>C (n.*179A>C)
c.164A>C (p.Lys55Thr)
c.26A>C (p.Lys9Thr)
n.597A>C
c.230A>C (p.Lys77Thr)
c.179A>C (p.Lys60Thr)
n.567A>C
6g.15627430T>ACA362869014DTNBP1c.268A>T (p.Lys90Ter)
c.217A>T (p.Lys73Ter)
c.*266A>T (n.*266A>T)
c.*178A>T (n.*178A>T)
c.163A>T (p.Lys55Ter)
c.25A>T (p.Lys9Ter)
n.596A>T
c.229A>T (p.Lys77Ter)
c.178A>T (p.Lys60Ter)
n.566A>T
6g.15627430T>CCA362869016DTNBP1c.268A>G (p.Lys90Glu)
c.217A>G (p.Lys73Glu)
c.*266A>G (n.*266A>G)
c.*178A>G (n.*178A>G)
c.163A>G (p.Lys55Glu)
c.25A>G (p.Lys9Glu)
n.596A>G
c.229A>G (p.Lys77Glu)
c.178A>G (p.Lys60Glu)
n.566A>G
 gnomAD v4
6g.15627430T>GCA362869015DTNBP1c.268A>C (p.Lys90Gln)
c.217A>C (p.Lys73Gln)
c.*266A>C (n.*266A>C)
c.*178A>C (n.*178A>C)
c.163A>C (p.Lys55Gln)
c.25A>C (p.Lys9Gln)
n.596A>C
c.229A>C (p.Lys77Gln)
c.178A>C (p.Lys60Gln)
n.566A>C
6g.15627431C>ACA362869017DTNBP1c.267G>T (p.Lys89Asn)
c.216G>T (p.Lys72Asn)
c.*265G>T (n.*265G>T)
c.*177G>T (n.*177G>T)
c.162G>T (p.Lys54Asn)
c.24G>T (p.Lys8Asn)
n.595G>T
c.228G>T (p.Lys76Asn)
c.177G>T (p.Lys59Asn)
n.565G>T
6g.15627431C=CA1612384623DTNBP1c.267G= (p.Lys89=)
c.216G= (p.Lys72=)
c.*265G= (n.*265G=)
c.*177G= (n.*177G=)
c.162G= (p.Lys54=)
c.24G= (p.Lys8=)
n.595G=
c.228G= (p.Lys76=)
c.177G= (p.Lys59=)
n.565G=
6g.15627431C>GCA362869018DTNBP1c.267G>C (p.Lys89Asn)
c.216G>C (p.Lys72Asn)
c.*265G>C (n.*265G>C)
c.*177G>C (n.*177G>C)
c.162G>C (p.Lys54Asn)
c.24G>C (p.Lys8Asn)
n.595G>C
c.228G>C (p.Lys76Asn)
c.177G>C (p.Lys59Asn)
n.565G>C
6g.15627431C>TCA448827269DTNBP1c.267G>A (p.Lys89=)
c.216G>A (p.Lys72=)
c.*265G>A (n.*265G>A)
c.*177G>A (n.*177G>A)
c.162G>A (p.Lys54=)
c.24G>A (p.Lys8=)
n.595G>A
c.228G>A (p.Lys76=)
c.177G>A (p.Lys59=)
n.565G>A
 dbSNP
6g.15627432T>ACA362869019DTNBP1c.266A>T (p.Lys89Met)
c.215A>T (p.Lys72Met)
c.*264A>T (n.*264A>T)
c.*176A>T (n.*176A>T)
c.161A>T (p.Lys54Met)
c.23A>T (p.Lys8Met)
n.594A>T
c.227A>T (p.Lys76Met)
c.176A>T (p.Lys59Met)
n.564A>T
6g.15627432T>CCA362869020DTNBP1c.266A>G (p.Lys89Arg)
c.215A>G (p.Lys72Arg)
c.*264A>G (n.*264A>G)
c.*176A>G (n.*176A>G)
c.161A>G (p.Lys54Arg)
c.23A>G (p.Lys8Arg)
n.594A>G
c.227A>G (p.Lys76Arg)
c.176A>G (p.Lys59Arg)
n.564A>G
 gnomAD v4
6g.15627432T>GCA362869021DTNBP1c.266A>C (p.Lys89Thr)
c.215A>C (p.Lys72Thr)
c.*264A>C (n.*264A>C)
c.*176A>C (n.*176A>C)
c.161A>C (p.Lys54Thr)
c.23A>C (p.Lys8Thr)
n.594A>C
c.227A>C (p.Lys76Thr)
c.176A>C (p.Lys59Thr)
n.564A>C
6g.15627433T>ACA362869022DTNBP1c.265A>T (p.Lys89Ter)
c.214A>T (p.Lys72Ter)
c.*263A>T (n.*263A>T)
c.*175A>T (n.*175A>T)
c.160A>T (p.Lys54Ter)
c.22A>T (p.Lys8Ter)
n.593A>T
c.226A>T (p.Lys76Ter)
c.175A>T (p.Lys59Ter)
n.563A>T
6g.15627433T>CCA362869024DTNBP1c.265A>G (p.Lys89Glu)
c.214A>G (p.Lys72Glu)
c.*263A>G (n.*263A>G)
c.*175A>G (n.*175A>G)
c.160A>G (p.Lys54Glu)
c.22A>G (p.Lys8Glu)
n.593A>G
c.226A>G (p.Lys76Glu)
c.175A>G (p.Lys59Glu)
n.563A>G
6g.15627433T>GCA362869023DTNBP1c.265A>C (p.Lys89Gln)
c.214A>C (p.Lys72Gln)
c.*263A>C (n.*263A>C)
c.*175A>C (n.*175A>C)
c.160A>C (p.Lys54Gln)
c.22A>C (p.Lys8Gln)
n.593A>C
c.226A>C (p.Lys76Gln)
c.175A>C (p.Lys59Gln)
n.563A>C
6g.15627434C>ACA362869025DTNBP1c.264G>T (p.Glu88Asp)
c.213G>T (p.Glu71Asp)
c.*262G>T (n.*262G>T)
c.*174G>T (n.*174G>T)
c.159G>T (p.Glu53Asp)
c.21G>T (p.Glu7Asp)
n.592G>T
c.225G>T (p.Glu75Asp)
c.174G>T (p.Glu58Asp)
n.562G>T
 COSMIC COSMIC COSMIC
6g.15627434C=CA1612384624DTNBP1c.264G= (p.Glu88=)
c.213G= (p.Glu71=)
c.*262G= (n.*262G=)
c.*174G= (n.*174G=)
c.159G= (p.Glu53=)
c.21G= (p.Glu7=)
n.592G=
c.225G= (p.Glu75=)
c.174G= (p.Glu58=)
n.562G=
6g.15627434C>GCA362869026DTNBP1c.264G>C (p.Glu88Asp)
c.213G>C (p.Glu71Asp)
c.*262G>C (n.*262G>C)
c.*174G>C (n.*174G>C)
c.159G>C (p.Glu53Asp)
c.21G>C (p.Glu7Asp)
n.592G>C
c.225G>C (p.Glu75Asp)
c.174G>C (p.Glu58Asp)
n.562G>C
6g.15627434C>TCA3644184DTNBP1c.264G>A (p.Glu88=)
c.213G>A (p.Glu71=)
c.*262G>A (n.*262G>A)
c.*174G>A (n.*174G>A)
c.159G>A (p.Glu53=)
c.21G>A (p.Glu7=)
n.592G>A
c.225G>A (p.Glu75=)
c.174G>A (p.Glu58=)
n.562G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627435T>ACA362869027DTNBP1c.263A>T (p.Glu88Val)
c.212A>T (p.Glu71Val)
c.*261A>T (n.*261A>T)
c.*173A>T (n.*173A>T)
c.158A>T (p.Glu53Val)
c.20A>T (p.Glu7Val)
n.591A>T
c.224A>T (p.Glu75Val)
c.173A>T (p.Glu58Val)
n.561A>T
6g.15627435T>CCA362869028DTNBP1c.263A>G (p.Glu88Gly)
c.212A>G (p.Glu71Gly)
c.*261A>G (n.*261A>G)
c.*173A>G (n.*173A>G)
c.158A>G (p.Glu53Gly)
c.20A>G (p.Glu7Gly)
n.591A>G
c.224A>G (p.Glu75Gly)
c.173A>G (p.Glu58Gly)
n.561A>G
 dbSNP gnomAD v3 gnomAD v4
6g.15627435T>GCA362869029DTNBP1c.263A>C (p.Glu88Ala)
c.212A>C (p.Glu71Ala)
c.*261A>C (n.*261A>C)
c.*173A>C (n.*173A>C)
c.158A>C (p.Glu53Ala)
c.20A>C (p.Glu7Ala)
n.591A>C
c.224A>C (p.Glu75Ala)
c.173A>C (p.Glu58Ala)
n.561A>C
6g.15627435T=CA1612384625DTNBP1c.263A= (p.Glu88=)
c.212A= (p.Glu71=)
c.*261A= (n.*261A=)
c.*173A= (n.*173A=)
c.158A= (p.Glu53=)
c.20A= (p.Glu7=)
n.591A=
c.224A= (p.Glu75=)
c.173A= (p.Glu58=)
n.561A=
6g.15627436C>ACA362869030DTNBP1c.262G>T (p.Glu88Ter)
c.211G>T (p.Glu71Ter)
c.*260G>T (n.*260G>T)
c.*172G>T (n.*172G>T)
c.157G>T (p.Glu53Ter)
c.19G>T (p.Glu7Ter)
n.590G>T
c.223G>T (p.Glu75Ter)
c.172G>T (p.Glu58Ter)
n.560G>T
6g.15627436C=CA1612384626DTNBP1c.262G= (p.Glu88=)
c.211G= (p.Glu71=)
c.*260G= (n.*260G=)
c.*172G= (n.*172G=)
c.157G= (p.Glu53=)
c.19G= (p.Glu7=)
n.590G=
c.223G= (p.Glu75=)
c.172G= (p.Glu58=)
n.560G=
6g.15627436C>GCA362869031DTNBP1c.262G>C (p.Glu88Gln)
c.211G>C (p.Glu71Gln)
c.*260G>C (n.*260G>C)
c.*172G>C (n.*172G>C)
c.157G>C (p.Glu53Gln)
c.19G>C (p.Glu7Gln)
n.590G>C
c.223G>C (p.Glu75Gln)
c.172G>C (p.Glu58Gln)
n.560G>C
6g.15627436C>TCA3644185DTNBP1c.262G>A (p.Glu88Lys)
c.211G>A (p.Glu71Lys)
c.*260G>A (n.*260G>A)
c.*172G>A (n.*172G>A)
c.157G>A (p.Glu53Lys)
c.19G>A (p.Glu7Lys)
n.590G>A
c.223G>A (p.Glu75Lys)
c.172G>A (p.Glu58Lys)
n.560G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627437C>ACA362869032DTNBP1c.261G>T (p.Trp87Cys)
c.210G>T (p.Trp70Cys)
c.*259G>T (n.*259G>T)
c.*171G>T (n.*171G>T)
c.156G>T (p.Trp52Cys)
c.18G>T (p.Trp6Cys)
n.589G>T
c.222G>T (p.Trp74Cys)
c.171G>T (p.Trp57Cys)
n.559G>T
6g.15627437C>GCA362869033DTNBP1c.261G>C (p.Trp87Cys)
c.210G>C (p.Trp70Cys)
c.*259G>C (n.*259G>C)
c.*171G>C (n.*171G>C)
c.156G>C (p.Trp52Cys)
c.18G>C (p.Trp6Cys)
n.589G>C
c.222G>C (p.Trp74Cys)
c.171G>C (p.Trp57Cys)
n.559G>C
6g.15627437C>TCA362869034DTNBP1c.261G>A (p.Trp87Ter)
c.210G>A (p.Trp70Ter)
c.*259G>A (n.*259G>A)
c.*171G>A (n.*171G>A)
c.156G>A (p.Trp52Ter)
c.18G>A (p.Trp6Ter)
n.589G>A
c.222G>A (p.Trp74Ter)
c.171G>A (p.Trp57Ter)
n.559G>A
 gnomAD v4 COSMIC COSMIC COSMIC
6g.15627438C>ACA362869035DTNBP1c.260G>T (p.Trp87Leu)
c.209G>T (p.Trp70Leu)
c.*258G>T (n.*258G>T)
c.*170G>T (n.*170G>T)
c.155G>T (p.Trp52Leu)
c.17G>T (p.Trp6Leu)
n.588G>T
c.221G>T (p.Trp74Leu)
c.170G>T (p.Trp57Leu)
n.558G>T
6g.15627438C>GCA362869037DTNBP1c.260G>C (p.Trp87Ser)
c.209G>C (p.Trp70Ser)
c.*258G>C (n.*258G>C)
c.*170G>C (n.*170G>C)
c.155G>C (p.Trp52Ser)
c.17G>C (p.Trp6Ser)
n.588G>C
c.221G>C (p.Trp74Ser)
c.170G>C (p.Trp57Ser)
n.558G>C
6g.15627438C>TCA362869036DTNBP1c.260G>A (p.Trp87Ter)
c.209G>A (p.Trp70Ter)
c.*258G>A (n.*258G>A)
c.*170G>A (n.*170G>A)
c.155G>A (p.Trp52Ter)
c.17G>A (p.Trp6Ter)
n.588G>A
c.221G>A (p.Trp74Ter)
c.170G>A (p.Trp57Ter)
n.558G>A
 gnomAD v4 COSMIC COSMIC COSMIC
6g.15627439A=CA1612384627DTNBP1c.259T= (p.Trp87=)
c.208T= (p.Trp70=)
c.*257T= (n.*257T=)
c.*169T= (n.*169T=)
c.154T= (p.Trp52=)
c.16T= (p.Trp6=)
n.587T=
c.220T= (p.Trp74=)
c.169T= (p.Trp57=)
n.557T=
6g.15627439A>CCA362869038DTNBP1c.259T>G (p.Trp87Gly)
c.208T>G (p.Trp70Gly)
c.*257T>G (n.*257T>G)
c.*169T>G (n.*169T>G)
c.154T>G (p.Trp52Gly)
c.16T>G (p.Trp6Gly)
n.587T>G
c.220T>G (p.Trp74Gly)
c.169T>G (p.Trp57Gly)
n.557T>G
 dbSNP
6g.15627439A>GCA362869039DTNBP1c.259T>C (p.Trp87Arg)
c.208T>C (p.Trp70Arg)
c.*257T>C (n.*257T>C)
c.*169T>C (n.*169T>C)
c.154T>C (p.Trp52Arg)
c.16T>C (p.Trp6Arg)
n.587T>C
c.220T>C (p.Trp74Arg)
c.169T>C (p.Trp57Arg)
n.557T>C
 gnomAD v4
6g.15627439A>TCA362869040DTNBP1c.259T>A (p.Trp87Arg)
c.208T>A (p.Trp70Arg)
c.*257T>A (n.*257T>A)
c.*169T>A (n.*169T>A)
c.154T>A (p.Trp52Arg)
c.16T>A (p.Trp6Arg)
n.587T>A
c.220T>A (p.Trp74Arg)
c.169T>A (p.Trp57Arg)
n.557T>A
6g.15627440G>ACA448827270DTNBP1c.258C>T (p.His86=)
c.207C>T (p.His69=)
c.*256C>T (n.*256C>T)
c.*168C>T (n.*168C>T)
c.153C>T (p.His51=)
c.15C>T (p.His5=)
n.586C>T
c.219C>T (p.His73=)
c.168C>T (p.His56=)
n.556C>T
 gnomAD v4
6g.15627440G>CCA362869041DTNBP1c.258C>G (p.His86Gln)
c.207C>G (p.His69Gln)
c.*256C>G (n.*256C>G)
c.*168C>G (n.*168C>G)
c.153C>G (p.His51Gln)
c.15C>G (p.His5Gln)
n.586C>G
c.219C>G (p.His73Gln)
c.168C>G (p.His56Gln)
n.556C>G
6g.15627440G>TCA362869042DTNBP1c.258C>A (p.His86Gln)
c.207C>A (p.His69Gln)
c.*256C>A (n.*256C>A)
c.*168C>A (n.*168C>A)
c.153C>A (p.His51Gln)
c.15C>A (p.His5Gln)
n.586C>A
c.219C>A (p.His73Gln)
c.168C>A (p.His56Gln)
n.556C>A
6g.15627441T>ACA362869043DTNBP1c.257A>T (p.His86Leu)
c.206A>T (p.His69Leu)
c.*255A>T (n.*255A>T)
c.*167A>T (n.*167A>T)
c.152A>T (p.His51Leu)
c.14A>T (p.His5Leu)
n.585A>T
c.218A>T (p.His73Leu)
c.167A>T (p.His56Leu)
n.555A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.15627441T>CCA362869044DTNBP1c.257A>G (p.His86Arg)
c.206A>G (p.His69Arg)
c.*255A>G (n.*255A>G)
c.*167A>G (n.*167A>G)
c.152A>G (p.His51Arg)
c.14A>G (p.His5Arg)
n.585A>G
c.218A>G (p.His73Arg)
c.167A>G (p.His56Arg)
n.555A>G
 dbSNP gnomAD v2 gnomAD v4
6g.15627441T>GCA362869045DTNBP1c.257A>C (p.His86Pro)
c.206A>C (p.His69Pro)
c.*255A>C (n.*255A>C)
c.*167A>C (n.*167A>C)
c.152A>C (p.His51Pro)
c.14A>C (p.His5Pro)
n.585A>C
c.218A>C (p.His73Pro)
c.167A>C (p.His56Pro)
n.555A>C
6g.15627441T=CA1612384628DTNBP1c.257A= (p.His86=)
c.206A= (p.His69=)
c.*255A= (n.*255A=)
c.*167A= (n.*167A=)
c.152A= (p.His51=)
c.14A= (p.His5=)
n.585A=
c.218A= (p.His73=)
c.167A= (p.His56=)
n.555A=
6g.15627442G>ACA362869046DTNBP1c.256C>T (p.His86Tyr)
c.205C>T (p.His69Tyr)
c.*254C>T (n.*254C>T)
c.*166C>T (n.*166C>T)
c.151C>T (p.His51Tyr)
c.13C>T (p.His5Tyr)
n.584C>T
c.217C>T (p.His73Tyr)
c.166C>T (p.His56Tyr)
n.554C>T
 dbSNP gnomAD v4
6g.15627442G>CCA362869047DTNBP1c.256C>G (p.His86Asp)
c.205C>G (p.His69Asp)
c.*254C>G (n.*254C>G)
c.*166C>G (n.*166C>G)
c.151C>G (p.His51Asp)
c.13C>G (p.His5Asp)
n.584C>G
c.217C>G (p.His73Asp)
c.166C>G (p.His56Asp)
n.554C>G
 dbSNP
6g.15627442G=CA1612384629DTNBP1c.256C= (p.His86=)
c.205C= (p.His69=)
c.*254C= (n.*254C=)
c.*166C= (n.*166C=)
c.151C= (p.His51=)
c.13C= (p.His5=)
n.584C=
c.217C= (p.His73=)
c.166C= (p.His56=)
n.554C=
6g.15627442G>TCA362869048DTNBP1c.256C>A (p.His86Asn)
c.205C>A (p.His69Asn)
c.*254C>A (n.*254C>A)
c.*166C>A (n.*166C>A)
c.151C>A (p.His51Asn)
c.13C>A (p.His5Asn)
n.584C>A
c.217C>A (p.His73Asn)
c.166C>A (p.His56Asn)
n.554C>A
6g.15627443C>ACA10623366DTNBP1c.255G>T (p.Ala85=)
c.204G>T (p.Ala68=)
c.*253G>T (n.*253G>T)
c.*165G>T (n.*165G>T)
c.150G>T (p.Ala50=)
c.12G>T (p.Ala4=)
n.583G>T
c.216G>T (p.Ala72=)
c.165G>T (p.Ala55=)
n.553G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.15627443C=CA1612384630DTNBP1c.255G= (p.Ala85=)
c.204G= (p.Ala68=)
c.*253G= (n.*253G=)
c.*165G= (n.*165G=)
c.150G= (p.Ala50=)
c.12G= (p.Ala4=)
n.583G=
c.216G= (p.Ala72=)
c.165G= (p.Ala55=)
n.553G=
6g.15627443C>GCA448827271DTNBP1c.255G>C (p.Ala85=)
c.204G>C (p.Ala68=)
c.*253G>C (n.*253G>C)
c.*165G>C (n.*165G>C)
c.150G>C (p.Ala50=)
c.12G>C (p.Ala4=)
n.583G>C
c.216G>C (p.Ala72=)
c.165G>C (p.Ala55=)
n.553G>C
 gnomAD v4
6g.15627443C>TCA3644186DTNBP1c.255G>A (p.Ala85=)
c.204G>A (p.Ala68=)
c.*253G>A (n.*253G>A)
c.*165G>A (n.*165G>A)
c.150G>A (p.Ala50=)
c.12G>A (p.Ala4=)
n.583G>A
c.216G>A (p.Ala72=)
c.165G>A (p.Ala55=)
n.553G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.15627444G>ACA135264861DTNBP1c.254C>T (p.Ala85Val)
c.203C>T (p.Ala68Val)
c.*252C>T (n.*252C>T)
c.*164C>T (n.*164C>T)
c.149C>T (p.Ala50Val)
c.11C>T (p.Ala4Val)
n.582C>T
c.215C>T (p.Ala72Val)
c.164C>T (p.Ala55Val)
n.552C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.15627444G>CCA362869049DTNBP1c.254C>G (p.Ala85Gly)
c.203C>G (p.Ala68Gly)
c.*252C>G (n.*252C>G)
c.*164C>G (n.*164C>G)
c.149C>G (p.Ala50Gly)
c.11C>G (p.Ala4Gly)
n.582C>G
c.215C>G (p.Ala72Gly)
c.164C>G (p.Ala55Gly)
n.552C>G
 dbSNP gnomAD v3 gnomAD v4
6g.15627444G=CA1612384631DTNBP1c.254C= (p.Ala85=)
c.203C= (p.Ala68=)
c.*252C= (n.*252C=)
c.*164C= (n.*164C=)
c.149C= (p.Ala50=)
c.11C= (p.Ala4=)
n.582C=
c.215C= (p.Ala72=)
c.164C= (p.Ala55=)
n.552C=
6g.15627444G>TCA362869050DTNBP1c.254C>A (p.Ala85Glu)
c.203C>A (p.Ala68Glu)
c.*252C>A (n.*252C>A)
c.*164C>A (n.*164C>A)
c.149C>A (p.Ala50Glu)
c.11C>A (p.Ala4Glu)
n.582C>A
c.215C>A (p.Ala72Glu)
c.164C>A (p.Ala55Glu)
n.552C>A
6g.15627445C>ACA362869051DTNBP1c.253G>T (p.Ala85Ser)
c.202G>T (p.Ala68Ser)
c.*251G>T (n.*251G>T)
c.*163G>T (n.*163G>T)
c.148G>T (p.Ala50Ser)
c.10G>T (p.Ala4Ser)
n.581G>T
c.214G>T (p.Ala72Ser)
c.163G>T (p.Ala55Ser)
n.551G>T
6g.15627445C>GCA362869052DTNBP1c.253G>C (p.Ala85Pro)
c.202G>C (p.Ala68Pro)
c.*251G>C (n.*251G>C)
c.*163G>C (n.*163G>C)
c.148G>C (p.Ala50Pro)
c.10G>C (p.Ala4Pro)
n.581G>C
c.214G>C (p.Ala72Pro)
c.163G>C (p.Ala55Pro)
n.551G>C
6g.15627445C>TCA362869053DTNBP1c.253G>A (p.Ala85Thr)
c.202G>A (p.Ala68Thr)
c.*251G>A (n.*251G>A)
c.*163G>A (n.*163G>A)
c.148G>A (p.Ala50Thr)
c.10G>A (p.Ala4Thr)
n.581G>A
c.214G>A (p.Ala72Thr)
c.163G>A (p.Ala55Thr)
n.551G>A
 gnomAD v4
6g.15627446A>CCA448827272DTNBP1c.252T>G (p.Ser84=)
c.201T>G (p.Ser67=)
c.*250T>G (n.*250T>G)
c.*162T>G (n.*162T>G)
c.147T>G (p.Ser49=)
c.9T>G (p.Ser3=)
n.580T>G
c.213T>G (p.Ser71=)
c.162T>G (p.Ser54=)
n.550T>G
6g.15627446A>GCA448827274DTNBP1c.252T>C (p.Ser84=)
c.201T>C (p.Ser67=)
c.*250T>C (n.*250T>C)
c.*162T>C (n.*162T>C)
c.147T>C (p.Ser49=)
c.9T>C (p.Ser3=)
n.580T>C
c.213T>C (p.Ser71=)
c.162T>C (p.Ser54=)
n.550T>C
6g.15627446A>TCA448827273DTNBP1c.252T>A (p.Ser84=)
c.201T>A (p.Ser67=)
c.*250T>A (n.*250T>A)
c.*162T>A (n.*162T>A)
c.147T>A (p.Ser49=)
c.9T>A (p.Ser3=)
n.580T>A
c.213T>A (p.Ser71=)
c.162T>A (p.Ser54=)
n.550T>A
 gnomAD v4
6g.15627447G>ACA362869054DTNBP1c.251C>T (p.Ser84Phe)
c.200C>T (p.Ser67Phe)
c.*249C>T (n.*249C>T)
c.*161C>T (n.*161C>T)
c.146C>T (p.Ser49Phe)
c.8C>T (p.Ser3Phe)
n.579C>T
c.212C>T (p.Ser71Phe)
c.161C>T (p.Ser54Phe)
n.549C>T
 gnomAD v4
6g.15627447G>CCA362869055DTNBP1c.251C>G (p.Ser84Cys)
c.200C>G (p.Ser67Cys)
c.*249C>G (n.*249C>G)
c.*161C>G (n.*161C>G)
c.146C>G (p.Ser49Cys)
c.8C>G (p.Ser3Cys)
n.579C>G
c.212C>G (p.Ser71Cys)
c.161C>G (p.Ser54Cys)
n.549C>G
 COSMIC COSMIC COSMIC
6g.15627447G>TCA362869056DTNBP1c.251C>A (p.Ser84Tyr)
c.200C>A (p.Ser67Tyr)
c.*249C>A (n.*249C>A)
c.*161C>A (n.*161C>A)
c.146C>A (p.Ser49Tyr)
c.8C>A (p.Ser3Tyr)
n.579C>A
c.212C>A (p.Ser71Tyr)
c.161C>A (p.Ser54Tyr)
n.549C>A
6g.15627448A>CCA362869057DTNBP1c.250T>G (p.Ser84Ala)
c.199T>G (p.Ser67Ala)
c.*248T>G (n.*248T>G)
c.*160T>G (n.*160T>G)
c.145T>G (p.Ser49Ala)
c.7T>G (p.Ser3Ala)
n.578T>G
c.211T>G (p.Ser71Ala)
c.160T>G (p.Ser54Ala)
n.548T>G
6g.15627448A>GCA362869058DTNBP1c.250T>C (p.Ser84Pro)
c.199T>C (p.Ser67Pro)
c.*248T>C (n.*248T>C)
c.*160T>C (n.*160T>C)
c.145T>C (p.Ser49Pro)
c.7T>C (p.Ser3Pro)
n.578T>C
c.211T>C (p.Ser71Pro)
c.160T>C (p.Ser54Pro)
n.548T>C
6g.15627448A>TCA362869059DTNBP1c.250T>A (p.Ser84Thr)
c.199T>A (p.Ser67Thr)
c.*248T>A (n.*248T>A)
c.*160T>A (n.*160T>A)
c.145T>A (p.Ser49Thr)
c.7T>A (p.Ser3Thr)
n.578T>A
c.211T>A (p.Ser71Thr)
c.160T>A (p.Ser54Thr)
n.548T>A
6g.15627449A>CCA448827275DTNBP1c.249T>G (p.Leu83=)
c.198T>G (p.Leu66=)
c.*247T>G (n.*247T>G)
c.*159T>G (n.*159T>G)
c.144T>G (p.Leu48=)
c.6T>G (p.Leu2=)
n.577T>G
c.210T>G (p.Leu70=)
c.159T>G (p.Leu53=)
n.547T>G
6g.15627449A>GCA448827276DTNBP1c.249T>C (p.Leu83=)
c.198T>C (p.Leu66=)
c.*247T>C (n.*247T>C)
c.*159T>C (n.*159T>C)
c.144T>C (p.Leu48=)
c.6T>C (p.Leu2=)
n.577T>C
c.210T>C (p.Leu70=)
c.159T>C (p.Leu53=)
n.547T>C
 COSMIC COSMIC COSMIC
6g.15627449A>TCA448827277DTNBP1c.249T>A (p.Leu83=)
c.198T>A (p.Leu66=)
c.*247T>A (n.*247T>A)
c.*159T>A (n.*159T>A)
c.144T>A (p.Leu48=)
c.6T>A (p.Leu2=)
n.577T>A
c.210T>A (p.Leu70=)
c.159T>A (p.Leu53=)
n.547T>A
6g.15627450A>CCA362869060DTNBP1c.248T>G (p.Leu83Arg)
c.197T>G (p.Leu66Arg)
c.*246T>G (n.*246T>G)
c.*158T>G (n.*158T>G)
c.143T>G (p.Leu48Arg)
c.5T>G (p.Leu2Arg)
n.576T>G
c.209T>G (p.Leu70Arg)
c.158T>G (p.Leu53Arg)
n.546T>G
6g.15627450A>GCA362869061DTNBP1c.248T>C (p.Leu83Pro)
c.197T>C (p.Leu66Pro)
c.*246T>C (n.*246T>C)
c.*158T>C (n.*158T>C)
c.143T>C (p.Leu48Pro)
c.5T>C (p.Leu2Pro)
n.576T>C
c.209T>C (p.Leu70Pro)
c.158T>C (p.Leu53Pro)
n.546T>C
6g.15627450A>TCA362869062DTNBP1c.248T>A (p.Leu83His)
c.197T>A (p.Leu66His)
c.*246T>A (n.*246T>A)
c.*158T>A (n.*158T>A)
c.143T>A (p.Leu48His)
c.5T>A (p.Leu2His)
n.576T>A
c.209T>A (p.Leu70His)
c.158T>A (p.Leu53His)
n.546T>A
6g.15627451G>ACA362869063DTNBP1c.247C>T (p.Leu83Phe)
c.196C>T (p.Leu66Phe)
c.*245C>T (n.*245C>T)
c.*157C>T (n.*157C>T)
c.142C>T (p.Leu48Phe)
c.4C>T (p.Leu2Phe)
n.575C>T
c.208C>T (p.Leu70Phe)
c.157C>T (p.Leu53Phe)
n.545C>T
6g.15627451G>CCA362869065DTNBP1c.247C>G (p.Leu83Val)
c.196C>G (p.Leu66Val)
c.*245C>G (n.*245C>G)
c.*157C>G (n.*157C>G)
c.142C>G (p.Leu48Val)
c.4C>G (p.Leu2Val)
n.575C>G
c.208C>G (p.Leu70Val)
c.157C>G (p.Leu53Val)
n.545C>G
 gnomAD v4
6g.15627451G>TCA362869064DTNBP1c.247C>A (p.Leu83Ile)
c.196C>A (p.Leu66Ile)
c.*245C>A (n.*245C>A)
c.*157C>A (n.*157C>A)
c.142C>A (p.Leu48Ile)
c.4C>A (p.Leu2Ile)
n.575C>A
c.208C>A (p.Leu70Ile)
c.157C>A (p.Leu53Ile)
n.545C>A
6g.15627452C>ACA362869066DTNBP1c.246G>T (p.Met82Ile)
c.195G>T (p.Met65Ile)
c.*244G>T (n.*244G>T)
c.*156G>T (n.*156G>T)
c.141G>T (p.Met47Ile)
c.3G>T (p.Met1Ile)
n.574G>T
c.207G>T (p.Met69Ile)
c.156G>T (p.Met52Ile)
n.544G>T
6g.15627452C>GCA362869068DTNBP1c.246G>C (p.Met82Ile)
c.195G>C (p.Met65Ile)
c.*244G>C (n.*244G>C)
c.*156G>C (n.*156G>C)
c.141G>C (p.Met47Ile)
c.3G>C (p.Met1Ile)
n.574G>C
c.207G>C (p.Met69Ile)
c.156G>C (p.Met52Ile)
n.544G>C
6g.15627452C>TCA362869067DTNBP1c.246G>A (p.Met82Ile)
c.195G>A (p.Met65Ile)
c.*244G>A (n.*244G>A)
c.*156G>A (n.*156G>A)
c.141G>A (p.Met47Ile)
c.3G>A (p.Met1Ile)
n.574G>A
c.207G>A (p.Met69Ile)
c.156G>A (p.Met52Ile)
n.544G>A
 COSMIC COSMIC COSMIC
6g.15627453A>CCA362869069DTNBP1c.245T>G (p.Met82Arg)
c.194T>G (p.Met65Arg)
c.*243T>G (n.*243T>G)
c.*155T>G (n.*155T>G)
c.140T>G (p.Met47Arg)
c.2T>G (p.Met1Arg)
n.573T>G
c.206T>G (p.Met69Arg)
c.155T>G (p.Met52Arg)
n.543T>G
6g.15627453A>GCA362869070DTNBP1c.245T>C (p.Met82Thr)
c.194T>C (p.Met65Thr)
c.*243T>C (n.*243T>C)
c.*155T>C (n.*155T>C)
c.140T>C (p.Met47Thr)
c.2T>C (p.Met1Thr)
n.573T>C
c.206T>C (p.Met69Thr)
c.155T>C (p.Met52Thr)
n.543T>C
6g.15627453A>TCA362869071DTNBP1c.245T>A (p.Met82Lys)
c.194T>A (p.Met65Lys)
c.*243T>A (n.*243T>A)
c.*155T>A (n.*155T>A)
c.140T>A (p.Met47Lys)
c.2T>A (p.Met1Lys)
n.573T>A
c.206T>A (p.Met69Lys)
c.155T>A (p.Met52Lys)
n.543T>A
6g.15627454T>ACA362869072DTNBP1c.244A>T (p.Met82Leu)
c.193A>T (p.Met65Leu)
c.*242A>T (n.*242A>T)
c.*154A>T (n.*154A>T)
c.139A>T (p.Met47Leu)
c.1A>T (p.Met1Leu)
n.572A>T
c.205A>T (p.Met69Leu)
c.154A>T (p.Met52Leu)
n.542A>T
6g.15627454T>CCA362869073DTNBP1c.244A>G (p.Met82Val)
c.193A>G (p.Met65Val)
c.*242A>G (n.*242A>G)
c.*154A>G (n.*154A>G)
c.139A>G (p.Met47Val)
c.1A>G (p.Met1Val)
n.572A>G
c.205A>G (p.Met69Val)
c.154A>G (p.Met52Val)
n.542A>G
 dbSNP gnomAD v3 gnomAD v4
6g.15627454T>GCA362869074DTNBP1c.244A>C (p.Met82Leu)
c.193A>C (p.Met65Leu)
c.*242A>C (n.*242A>C)
c.*154A>C (n.*154A>C)
c.139A>C (p.Met47Leu)
c.1A>C (p.Met1Leu)
n.572A>C
c.205A>C (p.Met69Leu)
c.154A>C (p.Met52Leu)
n.542A>C
6g.15627454T=CA1612384632DTNBP1c.244A= (p.Met82=)
c.193A= (p.Met65=)
c.*242A= (n.*242A=)
c.*154A= (n.*154A=)
c.139A= (p.Met47=)
c.1A= (p.Met1=)
n.572A=
c.205A= (p.Met69=)
c.154A= (p.Met52=)
n.542A=
6g.15627455G>ACA448827280DTNBP1c.243C>T (p.Val81=)
c.192C>T (p.Val64=)
c.*241C>T (n.*241C>T)
c.*153C>T (n.*153C>T)
c.138C>T (p.Val46=)
c.-1C>T (n.-1C>T)
n.571C>T
c.204C>T (p.Val68=)
c.153C>T (p.Val51=)
n.541C>T
6g.15627455G>CCA448827278DTNBP1c.243C>G (p.Val81=)
c.192C>G (p.Val64=)
c.*241C>G (n.*241C>G)
c.*153C>G (n.*153C>G)
c.138C>G (p.Val46=)
c.-1C>G (n.-1C>G)
n.571C>G
c.204C>G (p.Val68=)
c.153C>G (p.Val51=)
n.541C>G
6g.15627455G>TCA448827279DTNBP1c.243C>A (p.Val81=)
c.192C>A (p.Val64=)
c.*241C>A (n.*241C>A)
c.*153C>A (n.*153C>A)
c.138C>A (p.Val46=)
c.-1C>A (n.-1C>A)
n.571C>A
c.204C>A (p.Val68=)
c.153C>A (p.Val51=)
n.541C>A
6g.15627456A>CCA362869075DTNBP1c.242T>G (p.Val81Gly)
c.191T>G (p.Val64Gly)
c.*240T>G (n.*240T>G)
c.*152T>G (n.*152T>G)
c.137T>G (p.Val46Gly)
c.-2T>G (n.-2T>G)
n.570T>G
c.203T>G (p.Val68Gly)
c.152T>G (p.Val51Gly)
n.540T>G
6g.15627456A>GCA362869076DTNBP1c.242T>C (p.Val81Ala)
c.191T>C (p.Val64Ala)
c.*240T>C (n.*240T>C)
c.*152T>C (n.*152T>C)
c.137T>C (p.Val46Ala)
c.-2T>C (n.-2T>C)
n.570T>C
c.203T>C (p.Val68Ala)
c.152T>C (p.Val51Ala)
n.540T>C
6g.15627456A>TCA362869077DTNBP1c.242T>A (p.Val81Asp)
c.191T>A (p.Val64Asp)
c.*240T>A (n.*240T>A)
c.*152T>A (n.*152T>A)
c.137T>A (p.Val46Asp)
c.-2T>A (n.-2T>A)
n.570T>A
c.203T>A (p.Val68Asp)
c.152T>A (p.Val51Asp)
n.540T>A
6g.15627457C>ACA362869078DTNBP1c.241G>T (p.Val81Phe)
c.190G>T (p.Val64Phe)
c.*239G>T (n.*239G>T)
c.*151G>T (n.*151G>T)
c.136G>T (p.Val46Phe)
c.-3G>T (n.-3G>T)
n.569G>T
c.202G>T (p.Val68Phe)
c.151G>T (p.Val51Phe)
n.539G>T
6g.15627457C>GCA362869079DTNBP1c.241G>C (p.Val81Leu)
c.190G>C (p.Val64Leu)
c.*239G>C (n.*239G>C)
c.*151G>C (n.*151G>C)
c.136G>C (p.Val46Leu)
c.-3G>C (n.-3G>C)
n.569G>C
c.202G>C (p.Val68Leu)
c.151G>C (p.Val51Leu)
n.539G>C
6g.15627457C>TCA362869080DTNBP1c.241G>A (p.Val81Ile)
c.190G>A (p.Val64Ile)
c.*239G>A (n.*239G>A)
c.*151G>A (n.*151G>A)
c.136G>A (p.Val46Ile)
c.-3G>A (n.-3G>A)
n.569G>A
c.202G>A (p.Val68Ile)
c.151G>A (p.Val51Ile)
n.539G>A
 gnomAD v4
6g.15627458C>ACA448827281DTNBP1c.240G>T (p.Val80=)
c.189G>T (p.Val63=)
c.*238G>T (n.*238G>T)
c.*150G>T (n.*150G>T)
c.135G>T (p.Val45=)
c.-4G>T (n.-4G>T)
n.568G>T
c.201G>T (p.Val67=)
c.150G>T (p.Val50=)
n.538G>T
6g.15627458C=CA1612384633DTNBP1c.240G= (p.Val80=)
c.189G= (p.Val63=)
c.*238G= (n.*238G=)
c.*150G= (n.*150G=)
c.135G= (p.Val45=)
c.-4G= (n.-4G=)
n.568G=
c.201G= (p.Val67=)
c.150G= (p.Val50=)
n.538G=
6g.15627458C>GCA448827282DTNBP1c.240G>C (p.Val80=)
c.189G>C (p.Val63=)
c.*238G>C (n.*238G>C)
c.*150G>C (n.*150G>C)
c.135G>C (p.Val45=)
c.-4G>C (n.-4G>C)
n.568G>C
c.201G>C (p.Val67=)
c.150G>C (p.Val50=)
n.538G>C
 gnomAD v4
6g.15627458C>TCA448827283DTNBP1c.240G>A (p.Val80=)
c.189G>A (p.Val63=)
c.*238G>A (n.*238G>A)
c.*150G>A (n.*150G>A)
c.135G>A (p.Val45=)
c.-4G>A (n.-4G>A)
n.568G>A
c.201G>A (p.Val67=)
c.150G>A (p.Val50=)
n.538G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.15627459A=CA1612384634DTNBP1c.239T= (p.Val80=)
c.188T= (p.Val63=)
c.*237T= (n.*237T=)
c.*149T= (n.*149T=)
c.134T= (p.Val45=)
c.-5T= (n.-5T=)
n.567T=
c.200T= (p.Val67=)
c.149T= (p.Val50=)
n.537T=
6g.15627459A>CCA362869081DTNBP1c.239T>G (p.Val80Gly)
c.188T>G (p.Val63Gly)
c.*237T>G (n.*237T>G)
c.*149T>G (n.*149T>G)
c.134T>G (p.Val45Gly)
c.-5T>G (n.-5T>G)
n.567T>G
c.200T>G (p.Val67Gly)
c.149T>G (p.Val50Gly)
n.537T>G
6g.15627459A>GCA362869083DTNBP1c.239T>C (p.Val80Ala)
c.188T>C (p.Val63Ala)
c.*237T>C (n.*237T>C)
c.*149T>C (n.*149T>C)
c.134T>C (p.Val45Ala)
c.-5T>C (n.-5T>C)
n.567T>C
c.200T>C (p.Val67Ala)
c.149T>C (p.Val50Ala)
n.537T>C
 dbSNP
6g.15627459A>TCA362869082DTNBP1c.239T>A (p.Val80Glu)
c.188T>A (p.Val63Glu)
c.*237T>A (n.*237T>A)
c.*149T>A (n.*149T>A)
c.134T>A (p.Val45Glu)
c.-5T>A (n.-5T>A)
n.567T>A
c.200T>A (p.Val67Glu)
c.149T>A (p.Val50Glu)
n.537T>A
 gnomAD v4
6g.15627460C>ACA362869084DTNBP1c.238G>T (p.Val80Leu)
c.187G>T (p.Val63Leu)
c.*236G>T (n.*236G>T)
c.*148G>T (n.*148G>T)
c.133G>T (p.Val45Leu)
c.-6G>T (n.-6G>T)
n.566G>T
c.199G>T (p.Val67Leu)
c.148G>T (p.Val50Leu)
n.536G>T
6g.15627460C>GCA362869085DTNBP1c.238G>C (p.Val80Leu)
c.187G>C (p.Val63Leu)
c.*236G>C (n.*236G>C)
c.*148G>C (n.*148G>C)
c.133G>C (p.Val45Leu)
c.-6G>C (n.-6G>C)
n.566G>C
c.199G>C (p.Val67Leu)
c.148G>C (p.Val50Leu)
n.536G>C
6g.15627460C>TCA362869086DTNBP1c.238G>A (p.Val80Met)
c.187G>A (p.Val63Met)
c.*236G>A (n.*236G>A)
c.*148G>A (n.*148G>A)
c.133G>A (p.Val45Met)
c.-6G>A (n.-6G>A)
n.566G>A
c.199G>A (p.Val67Met)
c.148G>A (p.Val50Met)
n.536G>A
6g.15627461C>ACA362869087DTNBP1c.237G>T (p.Glu79Asp)
c.186G>T (p.Glu62Asp)
c.*235G>T (n.*235G>T)
c.*147G>T (n.*147G>T)
c.132G>T (p.Glu44Asp)
c.-7G>T (n.-7G>T)
n.565G>T
c.198G>T (p.Glu66Asp)
c.147G>T (p.Glu49Asp)
n.535G>T
 dbSNP gnomAD v3 gnomAD v4
6g.15627461C=CA1612384635DTNBP1c.237G= (p.Glu79=)
c.186G= (p.Glu62=)
c.*235G= (n.*235G=)
c.*147G= (n.*147G=)
c.132G= (p.Glu44=)
c.-7G= (n.-7G=)
n.565G=
c.198G= (p.Glu66=)
c.147G= (p.Glu49=)
n.535G=
6g.15627461C>GCA362869088DTNBP1c.237G>C (p.Glu79Asp)
c.186G>C (p.Glu62Asp)
c.*235G>C (n.*235G>C)
c.*147G>C (n.*147G>C)
c.132G>C (p.Glu44Asp)
c.-7G>C (n.-7G>C)
n.565G>C
c.198G>C (p.Glu66Asp)
c.147G>C (p.Glu49Asp)
n.535G>C
 dbSNP
6g.15627461C>TCA3644187DTNBP1c.237G>A (p.Glu79=)
c.186G>A (p.Glu62=)
c.*235G>A (n.*235G>A)
c.*147G>A (n.*147G>A)
c.132G>A (p.Glu44=)
c.-7G>A (n.-7G>A)
n.565G>A
c.198G>A (p.Glu66=)
c.147G>A (p.Glu49=)
n.535G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627462T>ACA362869089DTNBP1c.236A>T (p.Glu79Val)
c.185A>T (p.Glu62Val)
c.*234A>T (n.*234A>T)
c.*146A>T (n.*146A>T)
c.131A>T (p.Glu44Val)
c.-8A>T (n.-8A>T)
n.564A>T
c.197A>T (p.Glu66Val)
c.146A>T (p.Glu49Val)
n.534A>T
6g.15627462T>CCA362869090DTNBP1c.236A>G (p.Glu79Gly)
c.185A>G (p.Glu62Gly)
c.*234A>G (n.*234A>G)
c.*146A>G (n.*146A>G)
c.131A>G (p.Glu44Gly)
c.-8A>G (n.-8A>G)
n.564A>G
c.197A>G (p.Glu66Gly)
c.146A>G (p.Glu49Gly)
n.534A>G
 dbSNP
6g.15627462T>GCA362869091DTNBP1c.236A>C (p.Glu79Ala)
c.185A>C (p.Glu62Ala)
c.*234A>C (n.*234A>C)
c.*146A>C (n.*146A>C)
c.131A>C (p.Glu44Ala)
c.-8A>C (n.-8A>C)
n.564A>C
c.197A>C (p.Glu66Ala)
c.146A>C (p.Glu49Ala)
n.534A>C
6g.15627462T=CA1612384636DTNBP1c.236A= (p.Glu79=)
c.185A= (p.Glu62=)
c.*234A= (n.*234A=)
c.*146A= (n.*146A=)
c.131A= (p.Glu44=)
c.-8A= (n.-8A=)
n.564A=
c.197A= (p.Glu66=)
c.146A= (p.Glu49=)
n.534A=
6g.15627463C>ACA362869092DTNBP1c.235G>T (p.Glu79Ter)
c.184G>T (p.Glu62Ter)
c.*233G>T (n.*233G>T)
c.*145G>T (n.*145G>T)
c.130G>T (p.Glu44Ter)
c.-9G>T (n.-9G>T)
n.563G>T
c.196G>T (p.Glu66Ter)
c.145G>T (p.Glu49Ter)
n.533G>T
6g.15627463C=CA1612384637DTNBP1c.235G= (p.Glu79=)
c.184G= (p.Glu62=)
c.*233G= (n.*233G=)
c.*145G= (n.*145G=)
c.130G= (p.Glu44=)
c.-9G= (n.-9G=)
n.563G=
c.196G= (p.Glu66=)
c.145G= (p.Glu49=)
n.533G=
6g.15627463C>GCA362869093DTNBP1c.235G>C (p.Glu79Gln)
c.184G>C (p.Glu62Gln)
c.*233G>C (n.*233G>C)
c.*145G>C (n.*145G>C)
c.130G>C (p.Glu44Gln)
c.-9G>C (n.-9G>C)
n.563G>C
c.196G>C (p.Glu66Gln)
c.145G>C (p.Glu49Gln)
n.533G>C
6g.15627463C>TCA3644188DTNBP1c.235G>A (p.Glu79Lys)
c.184G>A (p.Glu62Lys)
c.*233G>A (n.*233G>A)
c.*145G>A (n.*145G>A)
c.130G>A (p.Glu44Lys)
c.-9G>A (n.-9G>A)
n.563G>A
c.196G>A (p.Glu66Lys)
c.145G>A (p.Glu49Lys)
n.533G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627464G>ACA3644189DTNBP1c.234C>T (p.Ser78=)
c.183C>T (p.Ser61=)
c.*232C>T (n.*232C>T)
c.*144C>T (n.*144C>T)
c.129C>T (p.Ser43=)
c.-10C>T (n.-10C>T)
n.562C>T
c.195C>T (p.Ser65=)
c.144C>T (p.Ser48=)
n.532C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627464G>CCA362869094DTNBP1c.234C>G (p.Ser78Arg)
c.183C>G (p.Ser61Arg)
c.*232C>G (n.*232C>G)
c.*144C>G (n.*144C>G)
c.129C>G (p.Ser43Arg)
c.-10C>G (n.-10C>G)
n.562C>G
c.195C>G (p.Ser65Arg)
c.144C>G (p.Ser48Arg)
n.532C>G
 dbSNP gnomAD v4
6g.15627464G=CA1612384638DTNBP1c.234C= (p.Ser78=)
c.183C= (p.Ser61=)
c.*232C= (n.*232C=)
c.*144C= (n.*144C=)
c.129C= (p.Ser43=)
c.-10C= (n.-10C=)
n.562C=
c.195C= (p.Ser65=)
c.144C= (p.Ser48=)
n.532C=
6g.15627464G>TCA362869095DTNBP1c.234C>A (p.Ser78Arg)
c.183C>A (p.Ser61Arg)
c.*232C>A (n.*232C>A)
c.*144C>A (n.*144C>A)
c.129C>A (p.Ser43Arg)
c.-10C>A (n.-10C>A)
n.562C>A
c.195C>A (p.Ser65Arg)
c.144C>A (p.Ser48Arg)
n.532C>A
6g.15627465C>ACA362869096DTNBP1c.233G>T (p.Ser78Ile)
c.182G>T (p.Ser61Ile)
c.*231G>T (n.*231G>T)
c.*143G>T (n.*143G>T)
c.128G>T (p.Ser43Ile)
c.-11G>T (n.-11G>T)
n.561G>T
c.194G>T (p.Ser65Ile)
c.143G>T (p.Ser48Ile)
n.531G>T
6g.15627465C>GCA362869097DTNBP1c.233G>C (p.Ser78Thr)
c.182G>C (p.Ser61Thr)
c.*231G>C (n.*231G>C)
c.*143G>C (n.*143G>C)
c.128G>C (p.Ser43Thr)
c.-11G>C (n.-11G>C)
n.561G>C
c.194G>C (p.Ser65Thr)
c.143G>C (p.Ser48Thr)
n.531G>C
6g.15627465C>TCA362869098DTNBP1c.233G>A (p.Ser78Asn)
c.182G>A (p.Ser61Asn)
c.*231G>A (n.*231G>A)
c.*143G>A (n.*143G>A)
c.128G>A (p.Ser43Asn)
c.-11G>A (n.-11G>A)
n.561G>A
c.194G>A (p.Ser65Asn)
c.143G>A (p.Ser48Asn)
n.531G>A
 gnomAD v4
6g.15627466T>ACA362869101DTNBP1c.232A>T (p.Ser78Cys)
c.181A>T (p.Ser61Cys)
c.*230A>T (n.*230A>T)
c.*142A>T (n.*142A>T)
c.127A>T (p.Ser43Cys)
c.-12A>T (n.-12A>T)
n.560A>T
c.193A>T (p.Ser65Cys)
c.142A>T (p.Ser48Cys)
n.530A>T
6g.15627466T>CCA362869099DTNBP1c.232A>G (p.Ser78Gly)
c.181A>G (p.Ser61Gly)
c.*230A>G (n.*230A>G)
c.*142A>G (n.*142A>G)
c.127A>G (p.Ser43Gly)
c.-12A>G (n.-12A>G)
n.560A>G
c.193A>G (p.Ser65Gly)
c.142A>G (p.Ser48Gly)
n.530A>G
 gnomAD v4
6g.15627466T>GCA362869100DTNBP1c.232A>C (p.Ser78Arg)
c.181A>C (p.Ser61Arg)
c.*230A>C (n.*230A>C)
c.*142A>C (n.*142A>C)
c.127A>C (p.Ser43Arg)
c.-12A>C (n.-12A>C)
n.560A>C
c.193A>C (p.Ser65Arg)
c.142A>C (p.Ser48Arg)
n.530A>C
6g.15627467A=CA1612347105DTNBP1c.231T= (p.Asp77=)
c.180T= (p.Asp60=)
c.*229T= (n.*229T=)
c.*141T= (n.*141T=)
c.126T= (p.Asp42=)
c.-13T= (n.-13T=)
n.559T=
c.192T= (p.Asp64=)
c.141T= (p.Asp47=)
n.529T=
6g.15627467A>CCA362869102DTNBP1c.231T>G (p.Asp77Glu)
c.180T>G (p.Asp60Glu)
c.*229T>G (n.*229T>G)
c.*141T>G (n.*141T>G)
c.126T>G (p.Asp42Glu)
c.-13T>G (n.-13T>G)
n.559T>G
c.192T>G (p.Asp64Glu)
c.141T>G (p.Asp47Glu)
n.529T>G
 dbSNP gnomAD v3 gnomAD v4
6g.15627467A>GCA448827284DTNBP1c.231T>C (p.Asp77=)
c.180T>C (p.Asp60=)
c.*229T>C (n.*229T>C)
c.*141T>C (n.*141T>C)
c.126T>C (p.Asp42=)
c.-13T>C (n.-13T>C)
n.559T>C
c.192T>C (p.Asp64=)
c.141T>C (p.Asp47=)
n.529T>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.15627467A>TCA362869103DTNBP1c.231T>A (p.Asp77Glu)
c.180T>A (p.Asp60Glu)
c.*229T>A (n.*229T>A)
c.*141T>A (n.*141T>A)
c.126T>A (p.Asp42Glu)
c.-13T>A (n.-13T>A)
n.559T>A
c.192T>A (p.Asp64Glu)
c.141T>A (p.Asp47Glu)
n.529T>A
6g.15627468T>ACA362869104DTNBP1c.230A>T (p.Asp77Val)
c.179A>T (p.Asp60Val)
c.*228A>T (n.*228A>T)
c.*140A>T (n.*140A>T)
c.125A>T (p.Asp42Val)
c.-14A>T (n.-14A>T)
n.558A>T
c.191A>T (p.Asp64Val)
c.140A>T (p.Asp47Val)
n.528A>T
6g.15627468T>CCA362869105DTNBP1c.230A>G (p.Asp77Gly)
c.179A>G (p.Asp60Gly)
c.*228A>G (n.*228A>G)
c.*140A>G (n.*140A>G)
c.125A>G (p.Asp42Gly)
c.-14A>G (n.-14A>G)
n.558A>G
c.191A>G (p.Asp64Gly)
c.140A>G (p.Asp47Gly)
n.528A>G
 gnomAD v4
6g.15627468T>GCA362869106DTNBP1c.230A>C (p.Asp77Ala)
c.179A>C (p.Asp60Ala)
c.*228A>C (n.*228A>C)
c.*140A>C (n.*140A>C)
c.125A>C (p.Asp42Ala)
c.-14A>C (n.-14A>C)
n.558A>C
c.191A>C (p.Asp64Ala)
c.140A>C (p.Asp47Ala)
n.528A>C
6g.15627469C>ACA362869107DTNBP1c.229G>T (p.Asp77Tyr)
c.178G>T (p.Asp60Tyr)
c.*227G>T (n.*227G>T)
c.*139G>T (n.*139G>T)
c.124G>T (p.Asp42Tyr)
c.-15G>T (n.-15G>T)
n.557G>T
c.190G>T (p.Asp64Tyr)
c.139G>T (p.Asp47Tyr)
n.527G>T
6g.15627469C>GCA362869109DTNBP1c.229G>C (p.Asp77His)
c.178G>C (p.Asp60His)
c.*227G>C (n.*227G>C)
c.*139G>C (n.*139G>C)
c.124G>C (p.Asp42His)
c.-15G>C (n.-15G>C)
n.557G>C
c.190G>C (p.Asp64His)
c.139G>C (p.Asp47His)
n.527G>C
6g.15627469C>TCA362869108DTNBP1c.229G>A (p.Asp77Asn)
c.178G>A (p.Asp60Asn)
c.*227G>A (n.*227G>A)
c.*139G>A (n.*139G>A)
c.124G>A (p.Asp42Asn)
c.-15G>A (n.-15G>A)
n.557G>A
c.190G>A (p.Asp64Asn)
c.139G>A (p.Asp47Asn)
n.527G>A
6g.15627470C>ACA448827286DTNBP1c.228G>T (p.Val76=)
c.177G>T (p.Val59=)
c.*226G>T (n.*226G>T)
c.*138G>T (n.*138G>T)
c.123G>T (p.Val41=)
c.-16G>T (n.-16G>T)
n.556G>T
c.189G>T (p.Val63=)
c.138G>T (p.Val46=)
n.526G>T
6g.15627470C=CA1612347117DTNBP1c.228G= (p.Val76=)
c.177G= (p.Val59=)
c.*226G= (n.*226G=)
c.*138G= (n.*138G=)
c.123G= (p.Val41=)
c.-16G= (n.-16G=)
n.556G=
c.189G= (p.Val63=)
c.138G= (p.Val46=)
n.526G=
6g.15627470C>GCA135264862DTNBP1c.228G>C (p.Val76=)
c.177G>C (p.Val59=)
c.*226G>C (n.*226G>C)
c.*138G>C (n.*138G>C)
c.123G>C (p.Val41=)
c.-16G>C (n.-16G>C)
n.556G>C
c.189G>C (p.Val63=)
c.138G>C (p.Val46=)
n.526G>C
 dbSNP
6g.15627470C>TCA448827285DTNBP1c.228G>A (p.Val76=)
c.177G>A (p.Val59=)
c.*226G>A (n.*226G>A)
c.*138G>A (n.*138G>A)
c.123G>A (p.Val41=)
c.-16G>A (n.-16G>A)
n.556G>A
c.189G>A (p.Val63=)
c.138G>A (p.Val46=)
n.526G>A
6g.15627471A>CCA362869110DTNBP1c.227T>G (p.Val76Gly)
c.176T>G (p.Val59Gly)
c.*225T>G (n.*225T>G)
c.*137T>G (n.*137T>G)
c.122T>G (p.Val41Gly)
c.-17T>G (n.-17T>G)
n.555T>G
c.188T>G (p.Val63Gly)
c.137T>G (p.Val46Gly)
n.525T>G
6g.15627471A>GCA362869111DTNBP1c.227T>C (p.Val76Ala)
c.176T>C (p.Val59Ala)
c.*225T>C (n.*225T>C)
c.*137T>C (n.*137T>C)
c.122T>C (p.Val41Ala)
c.-17T>C (n.-17T>C)
n.555T>C
c.188T>C (p.Val63Ala)
c.137T>C (p.Val46Ala)
n.525T>C
6g.15627471A>TCA362869112DTNBP1c.227T>A (p.Val76Glu)
c.176T>A (p.Val59Glu)
c.*225T>A (n.*225T>A)
c.*137T>A (n.*137T>A)
c.122T>A (p.Val41Glu)
c.-17T>A (n.-17T>A)
n.555T>A
c.188T>A (p.Val63Glu)
c.137T>A (p.Val46Glu)
n.525T>A
6g.15627472C>ACA362869113DTNBP1c.226G>T (p.Val76Leu)
c.175G>T (p.Val59Leu)
c.*224G>T (n.*224G>T)
c.*136G>T (n.*136G>T)
c.121G>T (p.Val41Leu)
c.-18G>T (n.-18G>T)
n.554G>T
c.187G>T (p.Val63Leu)
c.136G>T (p.Val46Leu)
n.524G>T
6g.15627472C=CA1612347123DTNBP1c.226G= (p.Val76=)
c.175G= (p.Val59=)
c.*224G= (n.*224G=)
c.*136G= (n.*136G=)
c.121G= (p.Val41=)
c.-18G= (n.-18G=)
n.554G=
c.187G= (p.Val63=)
c.136G= (p.Val46=)
n.524G=
6g.15627472C>GCA362869114DTNBP1c.226G>C (p.Val76Leu)
c.175G>C (p.Val59Leu)
c.*224G>C (n.*224G>C)
c.*136G>C (n.*136G>C)
c.121G>C (p.Val41Leu)
c.-18G>C (n.-18G>C)
n.554G>C
c.187G>C (p.Val63Leu)
c.136G>C (p.Val46Leu)
n.524G>C
6g.15627472C>TCA3644190DTNBP1c.226G>A (p.Val76Met)
c.175G>A (p.Val59Met)
c.*224G>A (n.*224G>A)
c.*136G>A (n.*136G>A)
c.121G>A (p.Val41Met)
c.-18G>A (n.-18G>A)
n.554G>A
c.187G>A (p.Val63Met)
c.136G>A (p.Val46Met)
n.524G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627473delCA2710986933DTNBP1c.226del (p.Val76TrpfsTer?)
c.175del (p.Val59TrpfsTer?)
c.*224del (n.*224del)
c.*136del (n.*136del)
c.121del (p.Val41TrpfsTer?)
c.-18del (n.-18del)
n.554del
c.187del (p.Val63TrpfsTer?)
c.136del (p.Val46TrpfsTer?)
n.524del
 dbSNP
6g.15627472_15627473insACA2578535003DTNBP1c.225_226insT (p.Val76CysfsTer3)
c.174_175insT (p.Val59CysfsTer3)
c.*223_*224insT (n.*223_*224insT)
c.*135_*136insT (n.*135_*136insT)
c.120_121insT (p.Val41CysfsTer3)
c.-19_-18insT (n.-19_-18insT)
n.553_554insT
c.186_187insT (p.Val63CysfsTer3)
c.135_136insT (p.Val46CysfsTer3)
n.523_524insT
 gnomAD v4
6g.15627473C>ACA448827287DTNBP1c.225G>T (p.Leu75=)
c.174G>T (p.Leu58=)
c.*223G>T (n.*223G>T)
c.*135G>T (n.*135G>T)
c.120G>T (p.Leu40=)
c.-19G>T (n.-19G>T)
n.553G>T
c.186G>T (p.Leu62=)
c.135G>T (p.Leu45=)
n.523G>T
6g.15627473C>GCA448827288DTNBP1c.225G>C (p.Leu75=)
c.174G>C (p.Leu58=)
c.*223G>C (n.*223G>C)
c.*135G>C (n.*135G>C)
c.120G>C (p.Leu40=)
c.-19G>C (n.-19G>C)
n.553G>C
c.186G>C (p.Leu62=)
c.135G>C (p.Leu45=)
n.523G>C
6g.15627473C>TCA448827289DTNBP1c.225G>A (p.Leu75=)
c.174G>A (p.Leu58=)
c.*223G>A (n.*223G>A)
c.*135G>A (n.*135G>A)
c.120G>A (p.Leu40=)
c.-19G>A (n.-19G>A)
n.553G>A
c.186G>A (p.Leu62=)
c.135G>A (p.Leu45=)
n.523G>A
6g.15627474A>CCA362869115DTNBP1c.224T>G (p.Leu75Arg)
c.173T>G (p.Leu58Arg)
c.*222T>G (n.*222T>G)
c.*134T>G (n.*134T>G)
c.119T>G (p.Leu40Arg)
c.-20T>G (n.-20T>G)
n.552T>G
c.185T>G (p.Leu62Arg)
c.134T>G (p.Leu45Arg)
n.522T>G
6g.15627474A>GCA362869116DTNBP1c.224T>C (p.Leu75Pro)
c.173T>C (p.Leu58Pro)
c.*222T>C (n.*222T>C)
c.*134T>C (n.*134T>C)
c.119T>C (p.Leu40Pro)
c.-20T>C (n.-20T>C)
n.552T>C
c.185T>C (p.Leu62Pro)
c.134T>C (p.Leu45Pro)
n.522T>C
6g.15627474A>TCA362869117DTNBP1c.224T>A (p.Leu75Gln)
c.173T>A (p.Leu58Gln)
c.*222T>A (n.*222T>A)
c.*134T>A (n.*134T>A)
c.119T>A (p.Leu40Gln)
c.-20T>A (n.-20T>A)
n.552T>A
c.185T>A (p.Leu62Gln)
c.134T>A (p.Leu45Gln)
n.522T>A
6g.15627474_15627475insAGATACA2677408231DTNBP1c.224_225insATCTT (p.Val76SerfsTer?)
c.173_174insATCTT (p.Val59SerfsTer?)
c.*222_*223insATCTT (n.*222_*223insATCTT)
c.*134_*135insATCTT (n.*134_*135insATCTT)
c.119_120insATCTT (p.Val41SerfsTer?)
c.-20_-19insATCTT (n.-20_-19insATCTT)
n.552_553insATCTT
c.185_186insATCTT (p.Val63SerfsTer?)
c.134_135insATCTT (p.Val46SerfsTer?)
n.522_523insATCTT
 gnomAD v4
6g.15627475G>ACA448827290DTNBP1c.223C>T (p.Leu75=)
c.172C>T (p.Leu58=)
c.*221C>T (n.*221C>T)
c.*133C>T (n.*133C>T)
c.118C>T (p.Leu40=)
c.-21C>T (n.-21C>T)
n.551C>T
c.184C>T (p.Leu62=)
c.133C>T (p.Leu45=)
n.521C>T
 dbSNP gnomAD v2
6g.15627475G>CCA135264863DTNBP1c.223C>G (p.Leu75Val)
c.172C>G (p.Leu58Val)
c.*221C>G (n.*221C>G)
c.*133C>G (n.*133C>G)
c.118C>G (p.Leu40Val)
c.-21C>G (n.-21C>G)
n.551C>G
c.184C>G (p.Leu62Val)
c.133C>G (p.Leu45Val)
n.521C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.15627475G=CA1612347130DTNBP1c.223C= (p.Leu75=)
c.172C= (p.Leu58=)
c.*221C= (n.*221C=)
c.*133C= (n.*133C=)
c.118C= (p.Leu40=)
c.-21C= (n.-21C=)
n.551C=
c.184C= (p.Leu62=)
c.133C= (p.Leu45=)
n.521C=
6g.15627475G>TCA362869118DTNBP1c.223C>A (p.Leu75Met)
c.172C>A (p.Leu58Met)
c.*221C>A (n.*221C>A)
c.*133C>A (n.*133C>A)
c.118C>A (p.Leu40Met)
c.-21C>A (n.-21C>A)
n.551C>A
c.184C>A (p.Leu62Met)
c.133C>A (p.Leu45Met)
n.521C>A
6g.15627476C>ACA362869121DTNBP1c.223-1G>T (n.223-1G>T)
c.172-1G>T (n.172-1G>T)
c.*221-1G>T (n.*221-1G>T)
c.*133-1G>T (n.*133-1G>T)
c.118-1G>T (n.118-1G>T)
c.-21-1G>T (n.-21-1G>T)
n.551-1G>T
c.184-1G>T (n.184-1G>T)
c.133-1G>T (n.133-1G>T)
n.521-1G>T
6g.15627476C>GCA362869120DTNBP1c.223-1G>C (n.223-1G>C)
c.172-1G>C (n.172-1G>C)
c.*221-1G>C (n.*221-1G>C)
c.*133-1G>C (n.*133-1G>C)
c.118-1G>C (n.118-1G>C)
c.-21-1G>C (n.-21-1G>C)
n.551-1G>C
c.184-1G>C (n.184-1G>C)
c.133-1G>C (n.133-1G>C)
n.521-1G>C
 gnomAD v4
6g.15627476C>TCA362869119DTNBP1c.223-1G>A (n.223-1G>A)
c.172-1G>A (n.172-1G>A)
c.*221-1G>A (n.*221-1G>A)
c.*133-1G>A (n.*133-1G>A)
c.118-1G>A (n.118-1G>A)
c.-21-1G>A (n.-21-1G>A)
n.551-1G>A
c.184-1G>A (n.184-1G>A)
c.133-1G>A (n.133-1G>A)
n.521-1G>A
6g.15627476_15627477insGAGCA2677408232DTNBP1c.223-2_223-1insCTC (n.223-2_223-1insCTC)
c.172-2_172-1insCTC (n.172-2_172-1insCTC)
c.*221-2_*221-1insCTC (n.*221-2_*221-1insCTC)
c.*133-2_*133-1insCTC (n.*133-2_*133-1insCTC)
c.118-2_118-1insCTC (n.118-2_118-1insCTC)
c.-21-2_-21-1insCTC (n.-21-2_-21-1insCTC)
n.551-2_551-1insCTC
c.184-2_184-1insCTC (n.184-2_184-1insCTC)
c.133-2_133-1insCTC (n.133-2_133-1insCTC)
n.521-2_521-1insCTC
 gnomAD v4
6g.15627477T>ACA362869122DTNBP1c.223-2A>T (n.223-2A>T)
c.172-2A>T (n.172-2A>T)
c.*221-2A>T (n.*221-2A>T)
c.*133-2A>T (n.*133-2A>T)
c.118-2A>T (n.118-2A>T)
c.-21-2A>T (n.-21-2A>T)
n.551-2A>T
c.184-2A>T (n.184-2A>T)
c.133-2A>T (n.133-2A>T)
n.521-2A>T
6g.15627477T>CCA362869124DTNBP1c.223-2A>G (n.223-2A>G)
c.172-2A>G (n.172-2A>G)
c.*221-2A>G (n.*221-2A>G)
c.*133-2A>G (n.*133-2A>G)
c.118-2A>G (n.118-2A>G)
c.-21-2A>G (n.-21-2A>G)
n.551-2A>G
c.184-2A>G (n.184-2A>G)
c.133-2A>G (n.133-2A>G)
n.521-2A>G
6g.15627477T>GCA362869123DTNBP1c.223-2A>C (n.223-2A>C)
c.172-2A>C (n.172-2A>C)
c.*221-2A>C (n.*221-2A>C)
c.*133-2A>C (n.*133-2A>C)
c.118-2A>C (n.118-2A>C)
c.-21-2A>C (n.-21-2A>C)
n.551-2A>C
c.184-2A>C (n.184-2A>C)
c.133-2A>C (n.133-2A>C)
n.521-2A>C
6g.15627477_15627478insCCTCCA2677408233DTNBP1c.223-3_223-2insGAGG (n.223-3_223-2insGAGG)
c.172-3_172-2insGAGG (n.172-3_172-2insGAGG)
c.*221-3_*221-2insGAGG (n.*221-3_*221-2insGAGG)
c.*133-3_*133-2insGAGG (n.*133-3_*133-2insGAGG)
c.118-3_118-2insGAGG (n.118-3_118-2insGAGG)
c.-21-3_-21-2insGAGG (n.-21-3_-21-2insGAGG)
n.551-3_551-2insGAGG
c.184-3_184-2insGAGG (n.184-3_184-2insGAGG)
c.133-3_133-2insGAGG (n.133-3_133-2insGAGG)
n.521-3_521-2insGAGG
 gnomAD v4
6g.15627479C=CA1612347138DTNBP1c.223-4G= (n.223-4G=)
c.172-4G= (n.172-4G=)
c.*221-4G= (n.*221-4G=)
c.*133-4G= (n.*133-4G=)
c.118-4G= (n.118-4G=)
c.-21-4G= (n.-21-4G=)
n.551-4G=
c.184-4G= (n.184-4G=)
c.133-4G= (n.133-4G=)
n.521-4G=
6g.15627479C>TCA565714643DTNBP1c.223-4G>A (n.223-4G>A)
c.172-4G>A (n.172-4G>A)
c.*221-4G>A (n.*221-4G>A)
c.*133-4G>A (n.*133-4G>A)
c.118-4G>A (n.118-4G>A)
c.-21-4G>A (n.-21-4G>A)
n.551-4G>A
c.184-4G>A (n.184-4G>A)
c.133-4G>A (n.133-4G>A)
n.521-4G>A
 dbSNP gnomAD v2 gnomAD v4
6g.15627481G>CCA2770094499DTNBP1c.223-6C>G (n.223-6C>G)
c.172-6C>G (n.172-6C>G)
c.*221-6C>G (n.*221-6C>G)
c.*133-6C>G (n.*133-6C>G)
c.118-6C>G (n.118-6C>G)
c.-21-6C>G (n.-21-6C>G)
n.551-6C>G
c.184-6C>G (n.184-6C>G)
c.133-6C>G (n.133-6C>G)
n.521-6C>G
6g.15627482C>TCA2677408235DTNBP1c.223-7G>A (n.223-7G>A)
c.172-7G>A (n.172-7G>A)
c.*221-7G>A (n.*221-7G>A)
c.*133-7G>A (n.*133-7G>A)
c.118-7G>A (n.118-7G>A)
c.-21-7G>A (n.-21-7G>A)
n.551-7G>A
c.184-7G>A (n.184-7G>A)
c.133-7G>A (n.133-7G>A)
n.521-7G>A
 gnomAD v4
6g.15627486_15627487dupCA2677408234DTNBP1c.223-8_223-7dup (n.223-8_223-7dup)
c.172-8_172-7dup (n.172-8_172-7dup)
c.*221-8_*221-7dup (n.*221-8_*221-7dup)
c.*133-8_*133-7dup (n.*133-8_*133-7dup)
c.118-8_118-7dup (n.118-8_118-7dup)
c.-21-8_-21-7dup (n.-21-8_-21-7dup)
n.551-8_551-7dup
c.184-8_184-7dup (n.184-8_184-7dup)
c.133-8_133-7dup (n.133-8_133-7dup)
n.521-8_521-7dup
 gnomAD v4
6g.15627483_15627484insAACACACCCAACA2770094500DTNBP1c.223-8_223-7insTGGGTGTGTTT (n.223-8_223-7insTGGGTGTGTTT)
c.172-8_172-7insTGGGTGTGTTT (n.172-8_172-7insTGGGTGTGTTT)
c.*221-8_*221-7insTGGGTGTGTTT (n.*221-8_*221-7insTGGGTGTGTTT)
c.*133-8_*133-7insTGGGTGTGTTT (n.*133-8_*133-7insTGGGTGTGTTT)
c.118-8_118-7insTGGGTGTGTTT (n.118-8_118-7insTGGGTGTGTTT)
c.-21-8_-21-7insTGGGTGTGTTT (n.-21-8_-21-7insTGGGTGTGTTT)
n.551-8_551-7insTGGGTGTGTTT
c.184-8_184-7insTGGGTGTGTTT (n.184-8_184-7insTGGGTGTGTTT)
c.133-8_133-7insTGGGTGTGTTT (n.133-8_133-7insTGGGTGTGTTT)
n.521-8_521-7insTGGGTGTGTTT
6g.15627484C>GCA2677408236DTNBP1c.223-9G>C (n.223-9G>C)
c.172-9G>C (n.172-9G>C)
c.*221-9G>C (n.*221-9G>C)
c.*133-9G>C (n.*133-9G>C)
c.118-9G>C (n.118-9G>C)
c.-21-9G>C (n.-21-9G>C)
n.551-9G>C
c.184-9G>C (n.184-9G>C)
c.133-9G>C (n.133-9G>C)
n.521-9G>C
 gnomAD v4
6g.15627485A=CA1612347147DTNBP1c.223-10T= (n.223-10T=)
c.172-10T= (n.172-10T=)
c.*221-10T= (n.*221-10T=)
c.*133-10T= (n.*133-10T=)
c.118-10T= (n.118-10T=)
c.-21-10T= (n.-21-10T=)
n.551-10T=
c.184-10T= (n.184-10T=)
c.133-10T= (n.133-10T=)
n.521-10T=
6g.15627485A>GCA3644191DTNBP1c.223-10T>C (n.223-10T>C)
c.172-10T>C (n.172-10T>C)
c.*221-10T>C (n.*221-10T>C)
c.*133-10T>C (n.*133-10T>C)
c.118-10T>C (n.118-10T>C)
c.-21-10T>C (n.-21-10T>C)
n.551-10T>C
c.184-10T>C (n.184-10T>C)
c.133-10T>C (n.133-10T>C)
n.521-10T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.15627486C>GCA2677408237DTNBP1c.223-11G>C (n.223-11G>C)
c.172-11G>C (n.172-11G>C)
c.*221-11G>C (n.*221-11G>C)
c.*133-11G>C (n.*133-11G>C)
c.118-11G>C (n.118-11G>C)
c.-21-11G>C (n.-21-11G>C)
n.551-11G>C
c.184-11G>C (n.184-11G>C)
c.133-11G>C (n.133-11G>C)
n.521-11G>C
 gnomAD v4
6g.15627486_15627489delinsCAAGCA1612347150DTNBP1c.223-14_223-11delinsCTTG (n.223-14_223-11delinsCTTG)
c.172-14_172-11delinsCTTG (n.172-14_172-11delinsCTTG)
c.*221-14_*221-11delinsCTTG (n.*221-14_*221-11delinsCTTG)
c.*133-14_*133-11delinsCTTG (n.*133-14_*133-11delinsCTTG)
c.118-14_118-11delinsCTTG (n.118-14_118-11delinsCTTG)
c.-21-14_-21-11delinsCTTG (n.-21-14_-21-11delinsCTTG)
n.551-14_551-11delinsCTTG
c.184-14_184-11delinsCTTG (n.184-14_184-11delinsCTTG)
c.133-14_133-11delinsCTTG (n.133-14_133-11delinsCTTG)
n.521-14_521-11delinsCTTG
6g.15627487A=CA1612347152DTNBP1c.223-12T= (n.223-12T=)
c.172-12T= (n.172-12T=)
c.*221-12T= (n.*221-12T=)
c.*133-12T= (n.*133-12T=)
c.118-12T= (n.118-12T=)
c.-21-12T= (n.-21-12T=)
n.551-12T=
c.184-12T= (n.184-12T=)
c.133-12T= (n.133-12T=)
n.521-12T=
6g.15627487A>GCA2770094501DTNBP1c.223-12T>C (n.223-12T>C)
c.172-12T>C (n.172-12T>C)
c.*221-12T>C (n.*221-12T>C)
c.*133-12T>C (n.*133-12T>C)
c.118-12T>C (n.118-12T>C)
c.-21-12T>C (n.-21-12T>C)
n.551-12T>C
c.184-12T>C (n.184-12T>C)
c.133-12T>C (n.133-12T>C)
n.521-12T>C
6g.15627487A>TCA821193446DTNBP1c.223-12T>A (n.223-12T>A)
c.172-12T>A (n.172-12T>A)
c.*221-12T>A (n.*221-12T>A)
c.*133-12T>A (n.*133-12T>A)
c.118-12T>A (n.118-12T>A)
c.-21-12T>A (n.-21-12T>A)
n.551-12T>A
c.184-12T>A (n.184-12T>A)
c.133-12T>A (n.133-12T>A)
n.521-12T>A
 dbSNP gnomAD v3 gnomAD v4
6g.15627490_15627492dupCA3644192DTNBP1c.223-14_223-12dup (n.223-14_223-12dup)
c.172-14_172-12dup (n.172-14_172-12dup)
c.*221-14_*221-12dup (n.*221-14_*221-12dup)
c.*133-14_*133-12dup (n.*133-14_*133-12dup)
c.118-14_118-12dup (n.118-14_118-12dup)
c.-21-14_-21-12dup (n.-21-14_-21-12dup)
n.551-14_551-12dup
c.184-14_184-12dup (n.184-14_184-12dup)
c.133-14_133-12dup (n.133-14_133-12dup)
n.521-14_521-12dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.15627490_15627492delCA565714646DTNBP1c.223-14_223-12del (n.223-14_223-12del)
c.172-14_172-12del (n.172-14_172-12del)
c.*221-14_*221-12del (n.*221-14_*221-12del)
c.*133-14_*133-12del (n.*133-14_*133-12del)
c.118-14_118-12del (n.118-14_118-12del)
c.-21-14_-21-12del (n.-21-14_-21-12del)
n.551-14_551-12del
c.184-14_184-12del (n.184-14_184-12del)
c.133-14_133-12del (n.133-14_133-12del)
n.521-14_521-12del
 dbSNP gnomAD v2 gnomAD v4
6g.15627489G>ACA2677408238DTNBP1c.223-14C>T (n.223-14C>T)
c.172-14C>T (n.172-14C>T)
c.*221-14C>T (n.*221-14C>T)
c.*133-14C>T (n.*133-14C>T)
c.118-14C>T (n.118-14C>T)
c.-21-14C>T (n.-21-14C>T)
n.551-14C>T
c.184-14C>T (n.184-14C>T)
c.133-14C>T (n.133-14C>T)
n.521-14C>T
 gnomAD v4
6g.15627493_15627502delCA2573140157DTNBP1c.223-24_223-15del (n.223-24_223-15del)
c.172-24_172-15del (n.172-24_172-15del)
c.*221-24_*221-15del (n.*221-24_*221-15del)
c.*133-24_*133-15del (n.*133-24_*133-15del)
c.118-24_118-15del (n.118-24_118-15del)
c.-21-24_-21-15del (n.-21-24_-21-15del)
n.551-24_551-15del
c.184-24_184-15del (n.184-24_184-15del)
c.133-24_133-15del (n.133-24_133-15del)
n.521-24_521-15del
 ClinVar dbSNP
6g.15627491A>GCA2710987154DTNBP1c.223-16T>C (n.223-16T>C)
c.172-16T>C (n.172-16T>C)
c.*221-16T>C (n.*221-16T>C)
c.*133-16T>C (n.*133-16T>C)
c.118-16T>C (n.118-16T>C)
c.-21-16T>C (n.-21-16T>C)
n.551-16T>C
c.184-16T>C (n.184-16T>C)
c.133-16T>C (n.133-16T>C)
n.521-16T>C
 dbSNP
6g.15627491_15627492delinsAGCA1612347153DTNBP1c.223-17_223-16delinsCT (n.223-17_223-16delinsCT)
c.172-17_172-16delinsCT (n.172-17_172-16delinsCT)
c.*221-17_*221-16delinsCT (n.*221-17_*221-16delinsCT)
c.*133-17_*133-16delinsCT (n.*133-17_*133-16delinsCT)
c.118-17_118-16delinsCT (n.118-17_118-16delinsCT)
c.-21-17_-21-16delinsCT (n.-21-17_-21-16delinsCT)
n.551-17_551-16delinsCT
c.184-17_184-16delinsCT (n.184-17_184-16delinsCT)
c.133-17_133-16delinsCT (n.133-17_133-16delinsCT)
n.521-17_521-16delinsCT

Number of alleles fetched