Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933221G>ACA397317715CHRNE,GP1BAc.617G>A (p.Gly206Asp)
c.-888+1121C>T (n.-888+1121C>T)
17g.4933221G>CCA397317717CHRNE,GP1BAc.617G>C (p.Gly206Ala)
c.-888+1121C>G (n.-888+1121C>G)
17g.4933221G>TCA397317720CHRNE,GP1BAc.617G>T (p.Gly206Val)
c.-888+1121C>A (n.-888+1121C>A)
17g.4933222C>ACA497677176CHRNE,GP1BAc.618C>A (p.Gly206=)
c.-888+1120G>T (n.-888+1120G>T)
17g.4933222C>GCA497677177CHRNE,GP1BAc.618C>G (p.Gly206=)
c.-888+1120G>C (n.-888+1120G>C)
17g.4933222C>TCA497677178CHRNE,GP1BAc.618C>T (p.Gly206=)
c.-888+1120G>A (n.-888+1120G>A)
17g.4933222_4933223delinsCTCA2244625477CHRNE,GP1BAc.618_619delinsCT (p.Gly206=)
c.-888+1119_-888+1120delinsAG (n.-888+1119_-888+1120delinsAG)
17g.4933223T>ACA397317735CHRNE,GP1BAc.619T>A (p.Phe207Ile)
c.-888+1119A>T (n.-888+1119A>T)
17g.4933223T>CCA397317727CHRNE,GP1BAc.619T>C (p.Phe207Leu)
c.-888+1119A>G (n.-888+1119A>G)
17g.4933223T>GCA397317733CHRNE,GP1BAc.619T>G (p.Phe207Val)
c.-888+1119A>C (n.-888+1119A>C)
17g.4933228dupCA645597027CHRNE,GP1BAc.624dup (p.Gly209TrpfsTer20)
c.-888+1119dup (n.-888+1119dup)
 COSMIC
17g.4933228delCA287216329CHRNE,GP1BAc.624del (p.Phe208LeufsTer?)
c.-888+1119del (n.-888+1119del)
 dbSNP gnomAD v2
17g.4933224T>ACA397317737CHRNE,GP1BAc.620T>A (p.Phe207Tyr)
c.-888+1118A>T (n.-888+1118A>T)
17g.4933224T>CCA397317739CHRNE,GP1BAc.620T>C (p.Phe207Ser)
c.-888+1118A>G (n.-888+1118A>G)
17g.4933224T>GCA397317742CHRNE,GP1BAc.620T>G (p.Phe207Cys)
c.-888+1118A>C (n.-888+1118A>C)
17g.4933225T>ACA397317744CHRNE,GP1BAc.621T>A (p.Phe207Leu)
c.-888+1117A>T (n.-888+1117A>T)
17g.4933225T>CCA8314807CHRNE,GP1BAc.621T>C (p.Phe207=)
c.-888+1117A>G (n.-888+1117A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933225T>GCA397317747CHRNE,GP1BAc.621T>G (p.Phe207Leu)
c.-888+1117A>C (n.-888+1117A>C)
17g.4933225T=CA2244625478CHRNE,GP1BAc.621T= (p.Phe207=)
c.-888+1117A= (n.-888+1117A=)
17g.4933226T>ACA397317759CHRNE,GP1BAc.622T>A (p.Phe208Ile)
c.-888+1116A>T (n.-888+1116A>T)
17g.4933226T>CCA397317760CHRNE,GP1BAc.622T>C (p.Phe208Leu)
c.-888+1116A>G (n.-888+1116A>G)
17g.4933226T>GCA397317761CHRNE,GP1BAc.622T>G (p.Phe208Val)
c.-888+1116A>C (n.-888+1116A>C)
17g.4933227T>ACA397317762CHRNE,GP1BAc.623T>A (p.Phe208Tyr)
c.-888+1115A>T (n.-888+1115A>T)
17g.4933227T>CCA397317763CHRNE,GP1BAc.623T>C (p.Phe208Ser)
c.-888+1115A>G (n.-888+1115A>G)
 dbSNP
17g.4933227T>GCA397317766CHRNE,GP1BAc.623T>G (p.Phe208Cys)
c.-888+1115A>C (n.-888+1115A>C)
17g.4933228T>ACA397317768CHRNE,GP1BAc.624T>A (p.Phe208Leu)
c.-888+1114A>T (n.-888+1114A>T)
17g.4933228T>CCA497677179CHRNE,GP1BAc.624T>C (p.Phe208=)
c.-888+1114A>G (n.-888+1114A>G)
17g.4933228T>GCA397317769CHRNE,GP1BAc.624T>G (p.Phe208Leu)
c.-888+1114A>C (n.-888+1114A>C)
17g.4933229G>ACA397317772CHRNE,GP1BAc.625G>A (p.Gly209Arg)
c.-888+1113C>T (n.-888+1113C>T)
17g.4933229G>CCA397317775CHRNE,GP1BAc.625G>C (p.Gly209Arg)
c.-888+1113C>G (n.-888+1113C>G)
17g.4933229G>TCA397317778CHRNE,GP1BAc.625G>T (p.Gly209Trp)
c.-888+1113C>A (n.-888+1113C>A)
17g.4933230G>ACA397317780CHRNE,GP1BAc.626G>A (p.Gly209Glu)
c.-888+1112C>T (n.-888+1112C>T)
17g.4933230G>CCA397317783CHRNE,GP1BAc.626G>C (p.Gly209Ala)
c.-888+1112C>G (n.-888+1112C>G)
17g.4933230G>TCA397317782CHRNE,GP1BAc.626G>T (p.Gly209Val)
c.-888+1112C>A (n.-888+1112C>A)
17g.4933233_4933274delCA2635578786CHRNE,GP1BAc.629_670del (p.Ser210_Trp223del)
c.-888+1071_-888+1112del (n.-888+1071_-888+1112del)
 gnomAD v4
17g.4933231G>ACA497677180CHRNE,GP1BAc.627G>A (p.Gly209=)
c.-888+1111C>T (n.-888+1111C>T)
 gnomAD v4
17g.4933231G>CCA497677181CHRNE,GP1BAc.627G>C (p.Gly209=)
c.-888+1111C>G (n.-888+1111C>G)
17g.4933231G>TCA497677182CHRNE,GP1BAc.627G>T (p.Gly209=)
c.-888+1111C>A (n.-888+1111C>A)
17g.4933232T>ACA8314808CHRNE,GP1BAc.628T>A (p.Ser210Thr)
c.-888+1110A>T (n.-888+1110A>T)
 dbSNP ExAC gnomAD v2
17g.4933232T>CCA397317784CHRNE,GP1BAc.628T>C (p.Ser210Pro)
c.-888+1110A>G (n.-888+1110A>G)
17g.4933232T>GCA397317785CHRNE,GP1BAc.628T>G (p.Ser210Ala)
c.-888+1110A>C (n.-888+1110A>C)
17g.4933232T=CA2244625479CHRNE,GP1BAc.628T= (p.Ser210=)
c.-888+1110A= (n.-888+1110A=)
17g.4933233C>ACA287216343CHRNE,GP1BAc.629C>A (p.Ser210Tyr)
c.-888+1109G>T (n.-888+1109G>T)
 dbSNP
17g.4933233C=CA2244625480CHRNE,GP1BAc.629C= (p.Ser210=)
c.-888+1109G= (n.-888+1109G=)
17g.4933233C>GCA397317787CHRNE,GP1BAc.629C>G (p.Ser210Cys)
c.-888+1109G>C (n.-888+1109G>C)
17g.4933233C>TCA397317789CHRNE,GP1BAc.629C>T (p.Ser210Phe)
c.-888+1109G>A (n.-888+1109G>A)
 gnomAD v4
17g.4933234C>ACA497677183CHRNE,GP1BAc.630C>A (p.Ser210=)
c.-888+1108G>T (n.-888+1108G>T)
17g.4933234C>GCA497677184CHRNE,GP1BAc.630C>G (p.Ser210=)
c.-888+1108G>C (n.-888+1108G>C)
17g.4933234C>TCA497677185CHRNE,GP1BAc.630C>T (p.Ser210=)
c.-888+1108G>A (n.-888+1108G>A)
17g.4933235C>ACA397317791CHRNE,GP1BAc.631C>A (p.His211Asn)
c.-888+1107G>T (n.-888+1107G>T)
17g.4933235C>GCA397317792CHRNE,GP1BAc.631C>G (p.His211Asp)
c.-888+1107G>C (n.-888+1107G>C)
17g.4933235C>TCA397317794CHRNE,GP1BAc.631C>T (p.His211Tyr)
c.-888+1107G>A (n.-888+1107G>A)
 dbSNP
17g.4933236A>CCA397317798CHRNE,GP1BAc.632A>C (p.His211Pro)
c.-888+1106T>G (n.-888+1106T>G)
17g.4933236A>GCA397317800CHRNE,GP1BAc.632A>G (p.His211Arg)
c.-888+1106T>C (n.-888+1106T>C)
17g.4933236A>TCA397317803CHRNE,GP1BAc.632A>T (p.His211Leu)
c.-888+1106T>A (n.-888+1106T>A)
17g.4933236_4933239delinsACCTCA2244625481CHRNE,GP1BAc.632_635delinsACCT (p.His211=)
c.-888+1103_-888+1106delinsAGGT (n.-888+1103_-888+1106delinsAGGT)
17g.4933237C>ACA397317805CHRNE,GP1BAc.633C>A (p.His211Gln)
c.-888+1105G>T (n.-888+1105G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933237C=CA2244625482CHRNE,GP1BAc.633C= (p.His211=)
c.-888+1105G= (n.-888+1105G=)
17g.4933237C>GCA397317807CHRNE,GP1BAc.633C>G (p.His211Gln)
c.-888+1105G>C (n.-888+1105G>C)
17g.4933237C>TCA497677186CHRNE,GP1BAc.633C>T (p.His211=)
c.-888+1105G>A (n.-888+1105G>A)
 dbSNP gnomAD v4
17g.4933240_4933242dupCA8314809CHRNE,GP1BAc.636_638dup (p.Leu213_Pro214insLeu)
c.-888+1103_-888+1105dup (n.-888+1103_-888+1105dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933240_4933242delCA980971634CHRNE,GP1BAc.636_638del (p.Leu213del)
c.-888+1103_-888+1105del (n.-888+1103_-888+1105del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933238C>ACA397317812CHRNE,GP1BAc.634C>A (p.Leu212Ile)
c.-888+1104G>T (n.-888+1104G>T)
 gnomAD v4
17g.4933238C=CA2244625483CHRNE,GP1BAc.634C= (p.Leu212=)
c.-888+1104G= (n.-888+1104G=)
17g.4933238C>GCA397317814CHRNE,GP1BAc.634C>G (p.Leu212Val)
c.-888+1104G>C (n.-888+1104G>C)
 dbSNP gnomAD v2
17g.4933238C>TCA287216355CHRNE,GP1BAc.634C>T (p.Leu212Phe)
c.-888+1104G>A (n.-888+1104G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933239T>ACA397317819CHRNE,GP1BAc.635T>A (p.Leu212His)
c.-888+1103A>T (n.-888+1103A>T)
17g.4933239T>CCA397317821CHRNE,GP1BAc.635T>C (p.Leu212Pro)
c.-888+1103A>G (n.-888+1103A>G)
17g.4933239T>GCA397317822CHRNE,GP1BAc.635T>G (p.Leu212Arg)
c.-888+1103A>C (n.-888+1103A>C)
 dbSNP gnomAD v4
17g.4933239T=CA2244625484CHRNE,GP1BAc.635T= (p.Leu212=)
c.-888+1103A= (n.-888+1103A=)
17g.4933240C>ACA497677187CHRNE,GP1BAc.636C>A (p.Leu212=)
c.-888+1102G>T (n.-888+1102G>T)
17g.4933240C>GCA497677188CHRNE,GP1BAc.636C>G (p.Leu212=)
c.-888+1102G>C (n.-888+1102G>C)
17g.4933240C>TCA497677189CHRNE,GP1BAc.636C>T (p.Leu212=)
c.-888+1102G>A (n.-888+1102G>A)
17g.4933241C>ACA397317823CHRNE,GP1BAc.637C>A (p.Leu213Met)
c.-888+1101G>T (n.-888+1101G>T)
17g.4933241C=CA2244625485CHRNE,GP1BAc.637C= (p.Leu213=)
c.-888+1101G= (n.-888+1101G=)
17g.4933241C>GCA287216363CHRNE,GP1BAc.637C>G (p.Leu213Val)
c.-888+1101G>C (n.-888+1101G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933241C>TCA497677190CHRNE,GP1BAc.637C>T (p.Leu213=)
c.-888+1101G>A (n.-888+1101G>A)
17g.4933242T>ACA397317825CHRNE,GP1BAc.638T>A (p.Leu213Gln)
c.-888+1100A>T (n.-888+1100A>T)
17g.4933242T>CCA397317826CHRNE,GP1BAc.638T>C (p.Leu213Pro)
c.-888+1100A>G (n.-888+1100A>G)
 ClinVar
17g.4933242T>GCA397317828CHRNE,GP1BAc.638T>G (p.Leu213Arg)
c.-888+1100A>C (n.-888+1100A>C)
17g.4933243G>ACA497677191CHRNE,GP1BAc.639G>A (p.Leu213=)
c.-888+1099C>T (n.-888+1099C>T)
17g.4933243G>CCA497677192CHRNE,GP1BAc.639G>C (p.Leu213=)
c.-888+1099C>G (n.-888+1099C>G)
 gnomAD v4
17g.4933243G>TCA497677193CHRNE,GP1BAc.639G>T (p.Leu213=)
c.-888+1099C>A (n.-888+1099C>A)
17g.4933244C>ACA397317833CHRNE,GP1BAc.640C>A (p.Pro214Thr)
c.-888+1098G>T (n.-888+1098G>T)
17g.4933244C>GCA397317835CHRNE,GP1BAc.640C>G (p.Pro214Ala)
c.-888+1098G>C (n.-888+1098G>C)
17g.4933244C>TCA397317831CHRNE,GP1BAc.640C>T (p.Pro214Ser)
c.-888+1098G>A (n.-888+1098G>A)
17g.4933245C>ACA397317842CHRNE,GP1BAc.641C>A (p.Pro214His)
c.-888+1097G>T (n.-888+1097G>T)
17g.4933245C>GCA397317839CHRNE,GP1BAc.641C>G (p.Pro214Arg)
c.-888+1097G>C (n.-888+1097G>C)
 gnomAD v4
17g.4933245C>TCA397317841CHRNE,GP1BAc.641C>T (p.Pro214Leu)
c.-888+1097G>A (n.-888+1097G>A)
17g.4933246T>ACA497677196CHRNE,GP1BAc.642T>A (p.Pro214=)
c.-888+1096A>T (n.-888+1096A>T)
17g.4933246T>CCA497677195CHRNE,GP1BAc.642T>C (p.Pro214=)
c.-888+1096A>G (n.-888+1096A>G)
17g.4933246T>GCA497677194CHRNE,GP1BAc.642T>G (p.Pro214=)
c.-888+1096A>C (n.-888+1096A>C)
17g.4933247T>ACA397317844CHRNE,GP1BAc.643T>A (p.Phe215Ile)
c.-888+1095A>T (n.-888+1095A>T)
17g.4933247T>CCA397317846CHRNE,GP1BAc.643T>C (p.Phe215Leu)
c.-888+1095A>G (n.-888+1095A>G)
17g.4933247T>GCA397317848CHRNE,GP1BAc.643T>G (p.Phe215Val)
c.-888+1095A>C (n.-888+1095A>C)
17g.4933248T>ACA397317856CHRNE,GP1BAc.644T>A (p.Phe215Tyr)
c.-888+1094A>T (n.-888+1094A>T)
17g.4933248T>CCA397317853CHRNE,GP1BAc.644T>C (p.Phe215Ser)
c.-888+1094A>G (n.-888+1094A>G)
17g.4933248T>GCA397317851CHRNE,GP1BAc.644T>G (p.Phe215Cys)
c.-888+1094A>C (n.-888+1094A>C)
17g.4933249T>ACA397317859CHRNE,GP1BAc.645T>A (p.Phe215Leu)
c.-888+1093A>T (n.-888+1093A>T)
17g.4933249T>CCA8314810CHRNE,GP1BAc.645T>C (p.Phe215=)
c.-888+1093A>G (n.-888+1093A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933249T>GCA397317863CHRNE,GP1BAc.645T>G (p.Phe215Leu)
c.-888+1093A>C (n.-888+1093A>C)
17g.4933249T=CA2244625486CHRNE,GP1BAc.645T= (p.Phe215=)
c.-888+1093A= (n.-888+1093A=)
17g.4933250G>ACA397317868CHRNE,GP1BAc.646G>A (p.Ala216Thr)
c.-888+1092C>T (n.-888+1092C>T)
17g.4933250G>CCA397317870CHRNE,GP1BAc.646G>C (p.Ala216Pro)
c.-888+1092C>G (n.-888+1092C>G)
17g.4933250G>TCA397317872CHRNE,GP1BAc.646G>T (p.Ala216Ser)
c.-888+1092C>A (n.-888+1092C>A)
17g.4933251C>ACA397317874CHRNE,GP1BAc.647C>A (p.Ala216Asp)
c.-888+1091G>T (n.-888+1091G>T)
17g.4933251C=CA2244625487CHRNE,GP1BAc.647C= (p.Ala216=)
c.-888+1091G= (n.-888+1091G=)
17g.4933251C>GCA397317880CHRNE,GP1BAc.647C>G (p.Ala216Gly)
c.-888+1091G>C (n.-888+1091G>C)
17g.4933251C>TCA397317877CHRNE,GP1BAc.647C>T (p.Ala216Val)
c.-888+1091G>A (n.-888+1091G>A)
 dbSNP gnomAD v4
17g.4933252T>ACA497677197CHRNE,GP1BAc.648T>A (p.Ala216=)
c.-888+1090A>T (n.-888+1090A>T)
17g.4933252T>CCA497677198CHRNE,GP1BAc.648T>C (p.Ala216=)
c.-888+1090A>G (n.-888+1090A>G)
17g.4933252T>GCA497677199CHRNE,GP1BAc.648T>G (p.Ala216=)
c.-888+1090A>C (n.-888+1090A>C)
17g.4933253T>ACA397317882CHRNE,GP1BAc.649T>A (p.Phe217Ile)
c.-888+1089A>T (n.-888+1089A>T)
 gnomAD v4
17g.4933253T>CCA397317883CHRNE,GP1BAc.649T>C (p.Phe217Leu)
c.-888+1089A>G (n.-888+1089A>G)
17g.4933253T>GCA397317884CHRNE,GP1BAc.649T>G (p.Phe217Val)
c.-888+1089A>C (n.-888+1089A>C)
17g.4933254T>ACA397317885CHRNE,GP1BAc.650T>A (p.Phe217Tyr)
c.-888+1088A>T (n.-888+1088A>T)
17g.4933254T>CCA397317886CHRNE,GP1BAc.650T>C (p.Phe217Ser)
c.-888+1088A>G (n.-888+1088A>G)
17g.4933254T>GCA397317887CHRNE,GP1BAc.650T>G (p.Phe217Cys)
c.-888+1088A>C (n.-888+1088A>C)
17g.4933255T>ACA397317889CHRNE,GP1BAc.651T>A (p.Phe217Leu)
c.-888+1087A>T (n.-888+1087A>T)
17g.4933255T>CCA497677200CHRNE,GP1BAc.651T>C (p.Phe217=)
c.-888+1087A>G (n.-888+1087A>G)
17g.4933255T>GCA397317891CHRNE,GP1BAc.651T>G (p.Phe217Leu)
c.-888+1087A>C (n.-888+1087A>C)
17g.4933256C>ACA397317894CHRNE,GP1BAc.652C>A (p.Leu218Ile)
c.-888+1086G>T (n.-888+1086G>T)
17g.4933256C>GCA397317896CHRNE,GP1BAc.652C>G (p.Leu218Val)
c.-888+1086G>C (n.-888+1086G>C)
17g.4933256C>TCA397317898CHRNE,GP1BAc.652C>T (p.Leu218Phe)
c.-888+1086G>A (n.-888+1086G>A)
17g.4933257T>ACA397317902CHRNE,GP1BAc.653T>A (p.Leu218His)
c.-888+1085A>T (n.-888+1085A>T)
17g.4933257T>CCA397317901CHRNE,GP1BAc.653T>C (p.Leu218Pro)
c.-888+1085A>G (n.-888+1085A>G)
17g.4933257T>GCA397317900CHRNE,GP1BAc.653T>G (p.Leu218Arg)
c.-888+1085A>C (n.-888+1085A>C)
17g.4933258C>ACA497677201CHRNE,GP1BAc.654C>A (p.Leu218=)
c.-888+1084G>T (n.-888+1084G>T)
17g.4933258C>GCA497677202CHRNE,GP1BAc.654C>G (p.Leu218=)
c.-888+1084G>C (n.-888+1084G>C)
17g.4933258C>TCA497677203CHRNE,GP1BAc.654C>T (p.Leu218=)
c.-888+1084G>A (n.-888+1084G>A)
17g.4933259C>ACA397317903CHRNE,GP1BAc.655C>A (p.His219Asn)
c.-888+1083G>T (n.-888+1083G>T)
17g.4933259C>GCA397317905CHRNE,GP1BAc.655C>G (p.His219Asp)
c.-888+1083G>C (n.-888+1083G>C)
17g.4933259C>TCA397317907CHRNE,GP1BAc.655C>T (p.His219Tyr)
c.-888+1083G>A (n.-888+1083G>A)
17g.4933260A>CCA397317908CHRNE,GP1BAc.656A>C (p.His219Pro)
c.-888+1082T>G (n.-888+1082T>G)
17g.4933260A>GCA397317910CHRNE,GP1BAc.656A>G (p.His219Arg)
c.-888+1082T>C (n.-888+1082T>C)
17g.4933260A>TCA397317912CHRNE,GP1BAc.656A>T (p.His219Leu)
c.-888+1082T>A (n.-888+1082T>A)
17g.4933261C>ACA397317914CHRNE,GP1BAc.657C>A (p.His219Gln)
c.-888+1081G>T (n.-888+1081G>T)
 ClinVar dbSNP
17g.4933261C=CA2244625488CHRNE,GP1BAc.657C= (p.His219=)
c.-888+1081G= (n.-888+1081G=)
17g.4933261C>GCA397317916CHRNE,GP1BAc.657C>G (p.His219Gln)
c.-888+1081G>C (n.-888+1081G>C)
17g.4933261C>TCA8314811CHRNE,GP1BAc.657C>T (p.His219=)
c.-888+1081G>A (n.-888+1081G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933262G>ACA287216396CHRNE,GP1BAc.658G>A (p.Gly220Arg)
c.-888+1080C>T (n.-888+1080C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933262G>CCA397317929CHRNE,GP1BAc.658G>C (p.Gly220Arg)
c.-888+1080C>G (n.-888+1080C>G)
17g.4933262G=CA2244625489CHRNE,GP1BAc.658G= (p.Gly220=)
c.-888+1080C= (n.-888+1080C=)
17g.4933262G>TCA397317932CHRNE,GP1BAc.658G>T (p.Gly220Trp)
c.-888+1080C>A (n.-888+1080C>A)
17g.4933263G>ACA397317938CHRNE,GP1BAc.659G>A (p.Gly220Glu)
c.-888+1079C>T (n.-888+1079C>T)
17g.4933263G>CCA397317941CHRNE,GP1BAc.659G>C (p.Gly220Ala)
c.-888+1079C>G (n.-888+1079C>G)
17g.4933263G>TCA397317935CHRNE,GP1BAc.659G>T (p.Gly220Val)
c.-888+1079C>A (n.-888+1079C>A)
17g.4933264G>ACA497677204CHRNE,GP1BAc.660G>A (p.Gly220=)
c.-888+1078C>T (n.-888+1078C>T)
 gnomAD v4
17g.4933264G>CCA497677205CHRNE,GP1BAc.660G>C (p.Gly220=)
c.-888+1078C>G (n.-888+1078C>G)
17g.4933264G>TCA497677206CHRNE,GP1BAc.660G>T (p.Gly220=)
c.-888+1078C>A (n.-888+1078C>A)
17g.4933265A>CCA397317942CHRNE,GP1BAc.661A>C (p.Asn221His)
c.-888+1077T>G (n.-888+1077T>G)
17g.4933265A>GCA397317943CHRNE,GP1BAc.661A>G (p.Asn221Asp)
c.-888+1077T>C (n.-888+1077T>C)
17g.4933265A>TCA397317945CHRNE,GP1BAc.661A>T (p.Asn221Tyr)
c.-888+1077T>A (n.-888+1077T>A)
17g.4933266A=CA2244625490CHRNE,GP1BAc.662A= (p.Asn221=)
c.-888+1076T= (n.-888+1076T=)
17g.4933266A>CCA397317951CHRNE,GP1BAc.662A>C (p.Asn221Thr)
c.-888+1076T>G (n.-888+1076T>G)
17g.4933266A>GCA8314812CHRNE,GP1BAc.662A>G (p.Asn221Ser)
c.-888+1076T>C (n.-888+1076T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933266A>TCA397317953CHRNE,GP1BAc.662A>T (p.Asn221Ile)
c.-888+1076T>A (n.-888+1076T>A)
17g.4933267C>ACA397317955CHRNE,GP1BAc.663C>A (p.Asn221Lys)
c.-888+1075G>T (n.-888+1075G>T)
17g.4933267C=CA2244625491CHRNE,GP1BAc.663C= (p.Asn221=)
c.-888+1075G= (n.-888+1075G=)
17g.4933267C>GCA397317958CHRNE,GP1BAc.663C>G (p.Asn221Lys)
c.-888+1075G>C (n.-888+1075G>C)
17g.4933267C>TCA497677207CHRNE,GP1BAc.663C>T (p.Asn221=)
c.-888+1075G>A (n.-888+1075G>A)
 dbSNP gnomAD v4
17g.4933268C>ACA397317960CHRNE,GP1BAc.664C>A (p.Pro222Thr)
c.-888+1074G>T (n.-888+1074G>T)
 gnomAD v4 COSMIC
17g.4933268C=CA2244625492CHRNE,GP1BAc.664C= (p.Pro222=)
c.-888+1074G= (n.-888+1074G=)
17g.4933268C>GCA287216400CHRNE,GP1BAc.664C>G (p.Pro222Ala)
c.-888+1074G>C (n.-888+1074G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933268C>TCA397317965CHRNE,GP1BAc.664C>T (p.Pro222Ser)
c.-888+1074G>A (n.-888+1074G>A)
17g.4933269C>ACA397317967CHRNE,GP1BAc.665C>A (p.Pro222His)
c.-888+1073G>T (n.-888+1073G>T)
17g.4933269C>GCA397317969CHRNE,GP1BAc.665C>G (p.Pro222Arg)
c.-888+1073G>C (n.-888+1073G>C)
17g.4933269C>TCA397317972CHRNE,GP1BAc.665C>T (p.Pro222Leu)
c.-888+1073G>A (n.-888+1073G>A)
17g.4933270C>ACA287216407CHRNE,GP1BAc.666C>A (p.Pro222=)
c.-888+1072G>T (n.-888+1072G>T)
 dbSNP gnomAD v4
17g.4933270C=CA2244625493CHRNE,GP1BAc.666C= (p.Pro222=)
c.-888+1072G= (n.-888+1072G=)
17g.4933270C>GCA497677208CHRNE,GP1BAc.666C>G (p.Pro222=)
c.-888+1072G>C (n.-888+1072G>C)
17g.4933270C>TCA497677209CHRNE,GP1BAc.666C>T (p.Pro222=)
c.-888+1072G>A (n.-888+1072G>A)
17g.4933271delCA2635578788CHRNE,GP1BAc.667del (p.Trp223GlyfsTer?)
c.-888+1071del (n.-888+1071del)
 gnomAD v4
17g.4933271T>ACA397317979CHRNE,GP1BAc.667T>A (p.Trp223Arg)
c.-888+1071A>T (n.-888+1071A>T)
17g.4933271T>CCA397317978CHRNE,GP1BAc.667T>C (p.Trp223Arg)
c.-888+1071A>G (n.-888+1071A>G)
17g.4933271T>GCA8314813CHRNE,GP1BAc.667T>G (p.Trp223Gly)
c.-888+1071A>C (n.-888+1071A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933271T=CA2244625494CHRNE,GP1BAc.667T= (p.Trp223=)
c.-888+1071A= (n.-888+1071A=)
17g.4933272G>ACA397317983CHRNE,GP1BAc.668G>A (p.Trp223Ter)
c.-888+1070C>T (n.-888+1070C>T)
 gnomAD v4
17g.4933272G>CCA397317981CHRNE,GP1BAc.668G>C (p.Trp223Ser)
c.-888+1070C>G (n.-888+1070C>G)
17g.4933272G>TCA397317986CHRNE,GP1BAc.668G>T (p.Trp223Leu)
c.-888+1070C>A (n.-888+1070C>A)
17g.4933273G>ACA397317989CHRNE,GP1BAc.669G>A (p.Trp223Ter)
c.-888+1069C>T (n.-888+1069C>T)
17g.4933273G>CCA397317993CHRNE,GP1BAc.669G>C (p.Trp223Cys)
c.-888+1069C>G (n.-888+1069C>G)
17g.4933273G>TCA397317991CHRNE,GP1BAc.669G>T (p.Trp223Cys)
c.-888+1069C>A (n.-888+1069C>A)
17g.4933274T>ACA397317995CHRNE,GP1BAc.670T>A (p.Leu224Ile)
c.-888+1068A>T (n.-888+1068A>T)
17g.4933274T>CCA497677210CHRNE,GP1BAc.670T>C (p.Leu224=)
c.-888+1068A>G (n.-888+1068A>G)
 gnomAD v4
17g.4933274T>GCA397317998CHRNE,GP1BAc.670T>G (p.Leu224Val)
c.-888+1068A>C (n.-888+1068A>C)
17g.4933275T>ACA397318001CHRNE,GP1BAc.671T>A (p.Leu224Ter)
c.-888+1067A>T (n.-888+1067A>T)
17g.4933275T>CCA397318003CHRNE,GP1BAc.671T>C (p.Leu224Ser)
c.-888+1067A>G (n.-888+1067A>G)
17g.4933275T>GCA397318006CHRNE,GP1BAc.671T>G (p.Leu224Ter)
c.-888+1067A>C (n.-888+1067A>C)
17g.4933276A>CCA397318008CHRNE,GP1BAc.672A>C (p.Leu224Phe)
c.-888+1066T>G (n.-888+1066T>G)
17g.4933276A>GCA497677211CHRNE,GP1BAc.672A>G (p.Leu224=)
c.-888+1066T>C (n.-888+1066T>C)
 gnomAD v4
17g.4933276A>TCA397318009CHRNE,GP1BAc.672A>T (p.Leu224Phe)
c.-888+1066T>A (n.-888+1066T>A)
17g.4933277T>ACA397318012CHRNE,GP1BAc.673T>A (p.Cys225Ser)
c.-888+1065A>T (n.-888+1065A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4933277T>CCA397318014CHRNE,GP1BAc.673T>C (p.Cys225Arg)
c.-888+1065A>G (n.-888+1065A>G)
 ClinVar dbSNP gnomAD v4
17g.4933277T>GCA397318015CHRNE,GP1BAc.673T>G (p.Cys225Gly)
c.-888+1065A>C (n.-888+1065A>C)
17g.4933277T=CA2244625495CHRNE,GP1BAc.673T= (p.Cys225=)
c.-888+1065A= (n.-888+1065A=)
17g.4933277_4933291delCA2635578789CHRNE,GP1BAc.673_687del (p.Cys225_Ile229del)
c.-888+1051_-888+1065del (n.-888+1051_-888+1065del)
 gnomAD v4
17g.4933278G>ACA397318016CHRNE,GP1BAc.674G>A (p.Cys225Tyr)
c.-888+1064C>T (n.-888+1064C>T)
17g.4933278G>CCA397318017CHRNE,GP1BAc.674G>C (p.Cys225Ser)
c.-888+1064C>G (n.-888+1064C>G)
 ClinVar dbSNP
17g.4933278G>TCA397318018CHRNE,GP1BAc.674G>T (p.Cys225Phe)
c.-888+1064C>A (n.-888+1064C>A)
17g.4933279C>ACA397318019CHRNE,GP1BAc.675C>A (p.Cys225Ter)
c.-888+1063G>T (n.-888+1063G>T)
17g.4933279C>GCA397318020CHRNE,GP1BAc.675C>G (p.Cys225Trp)
c.-888+1063G>C (n.-888+1063G>C)
17g.4933279C>TCA497677212CHRNE,GP1BAc.675C>T (p.Cys225=)
c.-888+1063G>A (n.-888+1063G>A)
17g.4933280A>CCA397318021CHRNE,GP1BAc.676A>C (p.Asn226His)
c.-888+1062T>G (n.-888+1062T>G)
17g.4933280A>GCA397318024CHRNE,GP1BAc.676A>G (p.Asn226Asp)
c.-888+1062T>C (n.-888+1062T>C)
17g.4933280A>TCA397318023CHRNE,GP1BAc.676A>T (p.Asn226Tyr)
c.-888+1062T>A (n.-888+1062T>A)
17g.4933281A>CCA397318025CHRNE,GP1BAc.677A>C (p.Asn226Thr)
c.-888+1061T>G (n.-888+1061T>G)
17g.4933281A>GCA397318027CHRNE,GP1BAc.677A>G (p.Asn226Ser)
c.-888+1061T>C (n.-888+1061T>C)
17g.4933281A>TCA397318029CHRNE,GP1BAc.677A>T (p.Asn226Ile)
c.-888+1061T>A (n.-888+1061T>A)
17g.4933282C>ACA397318031CHRNE,GP1BAc.678C>A (p.Asn226Lys)
c.-888+1060G>T (n.-888+1060G>T)
17g.4933282C>GCA397318034CHRNE,GP1BAc.678C>G (p.Asn226Lys)
c.-888+1060G>C (n.-888+1060G>C)
 gnomAD v4
17g.4933282C>TCA497677213CHRNE,GP1BAc.678C>T (p.Asn226=)
c.-888+1060G>A (n.-888+1060G>A)
17g.4933283T>ACA397318036CHRNE,GP1BAc.679T>A (p.Cys227Ser)
c.-888+1059A>T (n.-888+1059A>T)
17g.4933283T>CCA397318039CHRNE,GP1BAc.679T>C (p.Cys227Arg)
c.-888+1059A>G (n.-888+1059A>G)
 gnomAD v4 COSMIC
17g.4933283T>GCA397318042CHRNE,GP1BAc.679T>G (p.Cys227Gly)
c.-888+1059A>C (n.-888+1059A>C)
17g.4933284G>ACA397318048CHRNE,GP1BAc.680G>A (p.Cys227Tyr)
c.-888+1058C>T (n.-888+1058C>T)
17g.4933284G>CCA397318051CHRNE,GP1BAc.680G>C (p.Cys227Ser)
c.-888+1058C>G (n.-888+1058C>G)
17g.4933284G>TCA397318053CHRNE,GP1BAc.680G>T (p.Cys227Phe)
c.-888+1058C>A (n.-888+1058C>A)
17g.4933285T>ACA397318056CHRNE,GP1BAc.681T>A (p.Cys227Ter)
c.-888+1057A>T (n.-888+1057A>T)
 COSMIC
17g.4933285T>CCA497677214CHRNE,GP1BAc.681T>C (p.Cys227=)
c.-888+1057A>G (n.-888+1057A>G)
17g.4933285T>GCA397318057CHRNE,GP1BAc.681T>G (p.Cys227Trp)
c.-888+1057A>C (n.-888+1057A>C)
 gnomAD v4
17g.4933286G>ACA397318061CHRNE,GP1BAc.682G>A (p.Glu228Lys)
c.-888+1056C>T (n.-888+1056C>T)
17g.4933286G>CCA397318063CHRNE,GP1BAc.682G>C (p.Glu228Gln)
c.-888+1056C>G (n.-888+1056C>G)
17g.4933286G>TCA397318064CHRNE,GP1BAc.682G>T (p.Glu228Ter)
c.-888+1056C>A (n.-888+1056C>A)
17g.4933287A>CCA397318067CHRNE,GP1BAc.683A>C (p.Glu228Ala)
c.-888+1055T>G (n.-888+1055T>G)
17g.4933287A>GCA397318069CHRNE,GP1BAc.683A>G (p.Glu228Gly)
c.-888+1055T>C (n.-888+1055T>C)
17g.4933287A>TCA397318072CHRNE,GP1BAc.683A>T (p.Glu228Val)
c.-888+1055T>A (n.-888+1055T>A)
17g.4933288G>ACA497677215CHRNE,GP1BAc.684G>A (p.Glu228=)
c.-888+1054C>T (n.-888+1054C>T)
17g.4933288G>CCA397318073CHRNE,GP1BAc.684G>C (p.Glu228Asp)
c.-888+1054C>G (n.-888+1054C>G)
17g.4933288G>TCA397318076CHRNE,GP1BAc.684G>T (p.Glu228Asp)
c.-888+1054C>A (n.-888+1054C>A)
17g.4933289A>CCA397318078CHRNE,GP1BAc.685A>C (p.Ile229Leu)
c.-888+1053T>G (n.-888+1053T>G)
17g.4933289A>GCA397318080CHRNE,GP1BAc.685A>G (p.Ile229Val)
c.-888+1053T>C (n.-888+1053T>C)
17g.4933289A>TCA397318082CHRNE,GP1BAc.685A>T (p.Ile229Phe)
c.-888+1053T>A (n.-888+1053T>A)
17g.4933290T>ACA8314814CHRNE,GP1BAc.686T>A (p.Ile229Asn)
c.-888+1052A>T (n.-888+1052A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933290T>CCA397318087CHRNE,GP1BAc.686T>C (p.Ile229Thr)
c.-888+1052A>G (n.-888+1052A>G)
17g.4933290T>GCA397318085CHRNE,GP1BAc.686T>G (p.Ile229Ser)
c.-888+1052A>C (n.-888+1052A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933290T=CA2244625496CHRNE,GP1BAc.686T= (p.Ile229=)
c.-888+1052A= (n.-888+1052A=)
17g.4933291C>ACA497677216CHRNE,GP1BAc.687C>A (p.Ile229=)
c.-888+1051G>T (n.-888+1051G>T)
17g.4933291C>GCA397318091CHRNE,GP1BAc.687C>G (p.Ile229Met)
c.-888+1051G>C (n.-888+1051G>C)
17g.4933291C>TCA497677217CHRNE,GP1BAc.687C>T (p.Ile229=)
c.-888+1051G>A (n.-888+1051G>A)
 gnomAD v4
17g.4933292C>ACA397318103CHRNE,GP1BAc.688C>A (p.Leu230Ile)
c.-888+1050G>T (n.-888+1050G>T)
17g.4933292C>GCA397318105CHRNE,GP1BAc.688C>G (p.Leu230Val)
c.-888+1050G>C (n.-888+1050G>C)
17g.4933292C>TCA397318107CHRNE,GP1BAc.688C>T (p.Leu230Phe)
c.-888+1050G>A (n.-888+1050G>A)
17g.4933293T>ACA397318111CHRNE,GP1BAc.689T>A (p.Leu230His)
c.-888+1049A>T (n.-888+1049A>T)
17g.4933293T>CCA397318114CHRNE,GP1BAc.689T>C (p.Leu230Pro)
c.-888+1049A>G (n.-888+1049A>G)
17g.4933293T>GCA397318115CHRNE,GP1BAc.689T>G (p.Leu230Arg)
c.-888+1049A>C (n.-888+1049A>C)
17g.4933294C>ACA497677220CHRNE,GP1BAc.690C>A (p.Leu230=)
c.-888+1048G>T (n.-888+1048G>T)
17g.4933294C>GCA497677219CHRNE,GP1BAc.690C>G (p.Leu230=)
c.-888+1048G>C (n.-888+1048G>C)
17g.4933294C>TCA497677218CHRNE,GP1BAc.690C>T (p.Leu230=)
c.-888+1048G>A (n.-888+1048G>A)
17g.4933295T>ACA397318118CHRNE,GP1BAc.691T>A (p.Tyr231Asn)
c.-888+1047A>T (n.-888+1047A>T)
17g.4933295T>CCA397318119CHRNE,GP1BAc.691T>C (p.Tyr231His)
c.-888+1047A>G (n.-888+1047A>G)
17g.4933295T>GCA397318124CHRNE,GP1BAc.691T>G (p.Tyr231Asp)
c.-888+1047A>C (n.-888+1047A>C)
17g.4933296A>CCA397318125CHRNE,GP1BAc.692A>C (p.Tyr231Ser)
c.-888+1046T>G (n.-888+1046T>G)
17g.4933296A>GCA397318126CHRNE,GP1BAc.692A>G (p.Tyr231Cys)
c.-888+1046T>C (n.-888+1046T>C)
17g.4933296A>TCA397318127CHRNE,GP1BAc.692A>T (p.Tyr231Phe)
c.-888+1046T>A (n.-888+1046T>A)
17g.4933297T>ACA397318129CHRNE,GP1BAc.693T>A (p.Tyr231Ter)
c.-888+1045A>T (n.-888+1045A>T)
17g.4933297T>CCA497677221CHRNE,GP1BAc.693T>C (p.Tyr231=)
c.-888+1045A>G (n.-888+1045A>G)
17g.4933297T>GCA397318132CHRNE,GP1BAc.693T>G (p.Tyr231Ter)
c.-888+1045A>C (n.-888+1045A>C)
17g.4933298T>ACA397318134CHRNE,GP1BAc.694T>A (p.Phe232Ile)
c.-888+1044A>T (n.-888+1044A>T)
 ClinVar
17g.4933298T>CCA397318138CHRNE,GP1BAc.694T>C (p.Phe232Leu)
c.-888+1044A>G (n.-888+1044A>G)
17g.4933298T>GCA397318136CHRNE,GP1BAc.694T>G (p.Phe232Val)
c.-888+1044A>C (n.-888+1044A>C)
17g.4933299T>ACA397318142CHRNE,GP1BAc.695T>A (p.Phe232Tyr)
c.-888+1043A>T (n.-888+1043A>T)
17g.4933299T>CCA397318144CHRNE,GP1BAc.695T>C (p.Phe232Ser)
c.-888+1043A>G (n.-888+1043A>G)
17g.4933299T>GCA397318145CHRNE,GP1BAc.695T>G (p.Phe232Cys)
c.-888+1043A>C (n.-888+1043A>C)
17g.4933300T>ACA397318148CHRNE,GP1BAc.696T>A (p.Phe232Leu)
c.-888+1042A>T (n.-888+1042A>T)
17g.4933300T>CCA497677222CHRNE,GP1BAc.696T>C (p.Phe232=)
c.-888+1042A>G (n.-888+1042A>G)
17g.4933300T>GCA8314815CHRNE,GP1BAc.696T>G (p.Phe232Leu)
c.-888+1042A>C (n.-888+1042A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933300T=CA2244625497CHRNE,GP1BAc.696T= (p.Phe232=)
c.-888+1042A= (n.-888+1042A=)
17g.4933301C>ACA397318154CHRNE,GP1BAc.697C>A (p.Arg233Ser)
c.-888+1041G>T (n.-888+1041G>T)
17g.4933301C=CA2244625498CHRNE,GP1BAc.697C= (p.Arg233=)
c.-888+1041G= (n.-888+1041G=)
17g.4933301C>GCA397318156CHRNE,GP1BAc.697C>G (p.Arg233Gly)
c.-888+1041G>C (n.-888+1041G>C)
17g.4933301C>TCA8314816CHRNE,GP1BAc.697C>T (p.Arg233Cys)
c.-888+1041G>A (n.-888+1041G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933302G>ACA8314817CHRNE,GP1BAc.698G>A (p.Arg233His)
c.-888+1040C>T (n.-888+1040C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933302G>CCA397318160CHRNE,GP1BAc.698G>C (p.Arg233Pro)
c.-888+1040C>G (n.-888+1040C>G)
17g.4933302G=CA2244625499CHRNE,GP1BAc.698G= (p.Arg233=)
c.-888+1040C= (n.-888+1040C=)
17g.4933302G>TCA397318163CHRNE,GP1BAc.698G>T (p.Arg233Leu)
c.-888+1040C>A (n.-888+1040C>A)
17g.4933303T>ACA8314818CHRNE,GP1BAc.699T>A (p.Arg233=)
c.-888+1039A>T (n.-888+1039A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933303T>CCA497677223CHRNE,GP1BAc.699T>C (p.Arg233=)
c.-888+1039A>G (n.-888+1039A>G)
17g.4933303T>GCA497677224CHRNE,GP1BAc.699T>G (p.Arg233=)
c.-888+1039A>C (n.-888+1039A>C)
17g.4933303T=CA2244625500CHRNE,GP1BAc.699T= (p.Arg233=)
c.-888+1039A= (n.-888+1039A=)
17g.4933304C>ACA397318169CHRNE,GP1BAc.700C>A (p.Arg234Ser)
c.-888+1038G>T (n.-888+1038G>T)
17g.4933304C=CA2244625501CHRNE,GP1BAc.700C= (p.Arg234=)
c.-888+1038G= (n.-888+1038G=)
17g.4933304C>GCA397318175CHRNE,GP1BAc.700C>G (p.Arg234Gly)
c.-888+1038G>C (n.-888+1038G>C)
17g.4933304C>TCA8314819CHRNE,GP1BAc.700C>T (p.Arg234Cys)
c.-888+1038G>A (n.-888+1038G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933305G>ACA8314820CHRNE,GP1BAc.701G>A (p.Arg234His)
c.-888+1037C>T (n.-888+1037C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933305G>CCA397318178CHRNE,GP1BAc.701G>C (p.Arg234Pro)
c.-888+1037C>G (n.-888+1037C>G)
17g.4933305G=CA2244625502CHRNE,GP1BAc.701G= (p.Arg234=)
c.-888+1037C= (n.-888+1037C=)
17g.4933305G>TCA397318181CHRNE,GP1BAc.701G>T (p.Arg234Leu)
c.-888+1037C>A (n.-888+1037C>A)
17g.4933309_4933312delCA2576136023CHRNE,GP1BAc.705_708del (p.Trp235CysfsTer20)
c.-888+1034_-888+1037del (n.-888+1034_-888+1037del)
17g.4933306C>ACA497677225CHRNE,GP1BAc.702C>A (p.Arg234=)
c.-888+1036G>T (n.-888+1036G>T)
 dbSNP
17g.4933306C=CA2244625503CHRNE,GP1BAc.702C= (p.Arg234=)
c.-888+1036G= (n.-888+1036G=)
17g.4933306C>GCA497677226CHRNE,GP1BAc.702C>G (p.Arg234=)
c.-888+1036G>C (n.-888+1036G>C)
17g.4933306C>TCA497677227CHRNE,GP1BAc.702C>T (p.Arg234=)
c.-888+1036G>A (n.-888+1036G>A)
 gnomAD v4
17g.4933307T>ACA397318184CHRNE,GP1BAc.703T>A (p.Trp235Arg)
c.-888+1035A>T (n.-888+1035A>T)
17g.4933307T>CCA397318185CHRNE,GP1BAc.703T>C (p.Trp235Arg)
c.-888+1035A>G (n.-888+1035A>G)
 gnomAD v4
17g.4933307T>GCA397318187CHRNE,GP1BAc.703T>G (p.Trp235Gly)
c.-888+1035A>C (n.-888+1035A>C)
17g.4933308G>ACA397318190CHRNE,GP1BAc.704G>A (p.Trp235Ter)
c.-888+1034C>T (n.-888+1034C>T)
17g.4933308G>CCA397318192CHRNE,GP1BAc.704G>C (p.Trp235Ser)
c.-888+1034C>G (n.-888+1034C>G)
17g.4933308G>TCA397318193CHRNE,GP1BAc.704G>T (p.Trp235Leu)
c.-888+1034C>A (n.-888+1034C>A)
17g.4933309G>ACA397318200CHRNE,GP1BAc.705G>A (p.Trp235Ter)
c.-888+1033C>T (n.-888+1033C>T)
17g.4933309G>CCA397318202CHRNE,GP1BAc.705G>C (p.Trp235Cys)
c.-888+1033C>G (n.-888+1033C>G)
17g.4933309G>TCA397318197CHRNE,GP1BAc.705G>T (p.Trp235Cys)
c.-888+1033C>A (n.-888+1033C>A)
17g.4933310C>ACA397318207CHRNE,GP1BAc.706C>A (p.Leu236Met)
c.-888+1032G>T (n.-888+1032G>T)
17g.4933310C>GCA397318208CHRNE,GP1BAc.706C>G (p.Leu236Val)
c.-888+1032G>C (n.-888+1032G>C)
17g.4933310C>TCA497677230CHRNE,GP1BAc.706C>T (p.Leu236=)
c.-888+1032G>A (n.-888+1032G>A)
17g.4933311T>ACA397318212CHRNE,GP1BAc.707T>A (p.Leu236Gln)
c.-888+1031A>T (n.-888+1031A>T)
17g.4933311T>CCA397318214CHRNE,GP1BAc.707T>C (p.Leu236Pro)
c.-888+1031A>G (n.-888+1031A>G)
17g.4933311T>GCA397318217CHRNE,GP1BAc.707T>G (p.Leu236Arg)
c.-888+1031A>C (n.-888+1031A>C)
17g.4933312G>ACA497677234CHRNE,GP1BAc.708G>A (p.Leu236=)
c.-888+1030C>T (n.-888+1030C>T)
17g.4933312G>CCA497677235CHRNE,GP1BAc.708G>C (p.Leu236=)
c.-888+1030C>G (n.-888+1030C>G)
17g.4933312G>TCA497677236CHRNE,GP1BAc.708G>T (p.Leu236=)
c.-888+1030C>A (n.-888+1030C>A)
17g.4933313C>ACA397318222CHRNE,GP1BAc.709C>A (p.Gln237Lys)
c.-888+1029G>T (n.-888+1029G>T)
17g.4933313C>GCA397318226CHRNE,GP1BAc.709C>G (p.Gln237Glu)
c.-888+1029G>C (n.-888+1029G>C)
17g.4933313C>TCA397318228CHRNE,GP1BAc.709C>T (p.Gln237Ter)
c.-888+1029G>A (n.-888+1029G>A)
17g.4933314A>CCA397318231CHRNE,GP1BAc.710A>C (p.Gln237Pro)
c.-888+1028T>G (n.-888+1028T>G)
17g.4933314A>GCA397318234CHRNE,GP1BAc.710A>G (p.Gln237Arg)
c.-888+1028T>C (n.-888+1028T>C)
17g.4933314A>TCA397318236CHRNE,GP1BAc.710A>T (p.Gln237Leu)
c.-888+1028T>A (n.-888+1028T>A)
17g.4933315G>ACA287216444CHRNE,GP1BAc.711G>A (p.Gln237=)
c.-888+1027C>T (n.-888+1027C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933315G>CCA397318239CHRNE,GP1BAc.711G>C (p.Gln237His)
c.-888+1027C>G (n.-888+1027C>G)
17g.4933315G=CA2244625504CHRNE,GP1BAc.711G= (p.Gln237=)
c.-888+1027C= (n.-888+1027C=)
17g.4933315G>TCA397318242CHRNE,GP1BAc.711G>T (p.Gln237His)
c.-888+1027C>A (n.-888+1027C>A)
17g.4933316G>ACA8314821CHRNE,GP1BAc.712G>A (p.Asp238Asn)
c.-888+1026C>T (n.-888+1026C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933316G>CCA397318247CHRNE,GP1BAc.712G>C (p.Asp238His)
c.-888+1026C>G (n.-888+1026C>G)
 gnomAD v4
17g.4933316G=CA2244625505CHRNE,GP1BAc.712G= (p.Asp238=)
c.-888+1026C= (n.-888+1026C=)
17g.4933316G>TCA397318244CHRNE,GP1BAc.712G>T (p.Asp238Tyr)
c.-888+1026C>A (n.-888+1026C>A)
17g.4933317A>CCA397318250CHRNE,GP1BAc.713A>C (p.Asp238Ala)
c.-888+1025T>G (n.-888+1025T>G)
17g.4933317A>GCA397318253CHRNE,GP1BAc.713A>G (p.Asp238Gly)
c.-888+1025T>C (n.-888+1025T>C)
17g.4933317A>TCA397318254CHRNE,GP1BAc.713A>T (p.Asp238Val)
c.-888+1025T>A (n.-888+1025T>A)
17g.4933318C>ACA397318255CHRNE,GP1BAc.714C>A (p.Asp238Glu)
c.-888+1024G>T (n.-888+1024G>T)
17g.4933318C=CA2244625506CHRNE,GP1BAc.714C= (p.Asp238=)
c.-888+1024G= (n.-888+1024G=)
17g.4933318C>GCA397318256CHRNE,GP1BAc.714C>G (p.Asp238Glu)
c.-888+1024G>C (n.-888+1024G>C)
17g.4933318C>TCA497677241CHRNE,GP1BAc.714C>T (p.Asp238=)
c.-888+1024G>A (n.-888+1024G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933319A>CCA397318258CHRNE,GP1BAc.715A>C (p.Asn239His)
c.-888+1023T>G (n.-888+1023T>G)
17g.4933319A>GCA397318261CHRNE,GP1BAc.715A>G (p.Asn239Asp)
c.-888+1023T>C (n.-888+1023T>C)
 ClinVar gnomAD v4
17g.4933319A>TCA397318265CHRNE,GP1BAc.715A>T (p.Asn239Tyr)
c.-888+1023T>A (n.-888+1023T>A)
17g.4933320A=CA2244625507CHRNE,GP1BAc.716A= (p.Asn239=)
c.-888+1022T= (n.-888+1022T=)
17g.4933320A>CCA397318267CHRNE,GP1BAc.716A>C (p.Asn239Thr)
c.-888+1022T>G (n.-888+1022T>G)
17g.4933320A>GCA8314822CHRNE,GP1BAc.716A>G (p.Asn239Ser)
c.-888+1022T>C (n.-888+1022T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933320A>TCA397318271CHRNE,GP1BAc.716A>T (p.Asn239Ile)
c.-888+1022T>A (n.-888+1022T>A)
17g.4933321T>ACA397318273CHRNE,GP1BAc.717T>A (p.Asn239Lys)
c.-888+1021A>T (n.-888+1021A>T)
17g.4933321T>CCA497677246CHRNE,GP1BAc.717T>C (p.Asn239=)
c.-888+1021A>G (n.-888+1021A>G)
 COSMIC
17g.4933321T>GCA397318275CHRNE,GP1BAc.717T>G (p.Asn239Lys)
c.-888+1021A>C (n.-888+1021A>C)
 gnomAD v4

Number of alleles fetched