Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4933233_4933274del | CA2635578786 | CHRNE,GP1BA | c.629_670del (p.Ser210_Trp223del) c.-888+1071_-888+1112del (n.-888+1071_-888+1112del) | gnomAD v4 |
17 | g.4933250G>A | CA397317868 | CHRNE,GP1BA | c.646G>A (p.Ala216Thr) c.-888+1092C>T (n.-888+1092C>T) | |
17 | g.4933250G>C | CA397317870 | CHRNE,GP1BA | c.646G>C (p.Ala216Pro) c.-888+1092C>G (n.-888+1092C>G) | |
17 | g.4933250G>T | CA397317872 | CHRNE,GP1BA | c.646G>T (p.Ala216Ser) c.-888+1092C>A (n.-888+1092C>A) | |
17 | g.4933251C>A | CA397317874 | CHRNE,GP1BA | c.647C>A (p.Ala216Asp) c.-888+1091G>T (n.-888+1091G>T) | |
17 | g.4933251C= | CA2244625487 | CHRNE,GP1BA | c.647C= (p.Ala216=) c.-888+1091G= (n.-888+1091G=) | |
17 | g.4933251C>G | CA397317880 | CHRNE,GP1BA | c.647C>G (p.Ala216Gly) c.-888+1091G>C (n.-888+1091G>C) | |
17 | g.4933251C>T | CA397317877 | CHRNE,GP1BA | c.647C>T (p.Ala216Val) c.-888+1091G>A (n.-888+1091G>A) | dbSNP gnomAD v4 |
17 | g.4933252T>A | CA497677197 | CHRNE,GP1BA | c.648T>A (p.Ala216=) c.-888+1090A>T (n.-888+1090A>T) | |
17 | g.4933252T>C | CA497677198 | CHRNE,GP1BA | c.648T>C (p.Ala216=) c.-888+1090A>G (n.-888+1090A>G) | |
17 | g.4933252T>G | CA497677199 | CHRNE,GP1BA | c.648T>G (p.Ala216=) c.-888+1090A>C (n.-888+1090A>C) | |
17 | g.4933253T>A | CA397317882 | CHRNE,GP1BA | c.649T>A (p.Phe217Ile) c.-888+1089A>T (n.-888+1089A>T) | gnomAD v4 |
17 | g.4933253T>C | CA397317883 | CHRNE,GP1BA | c.649T>C (p.Phe217Leu) c.-888+1089A>G (n.-888+1089A>G) | |
17 | g.4933253T>G | CA397317884 | CHRNE,GP1BA | c.649T>G (p.Phe217Val) c.-888+1089A>C (n.-888+1089A>C) | |
17 | g.4933254T>A | CA397317885 | CHRNE,GP1BA | c.650T>A (p.Phe217Tyr) c.-888+1088A>T (n.-888+1088A>T) | |
17 | g.4933254T>C | CA397317886 | CHRNE,GP1BA | c.650T>C (p.Phe217Ser) c.-888+1088A>G (n.-888+1088A>G) | |
17 | g.4933254T>G | CA397317887 | CHRNE,GP1BA | c.650T>G (p.Phe217Cys) c.-888+1088A>C (n.-888+1088A>C) | |
17 | g.4933255T>A | CA397317889 | CHRNE,GP1BA | c.651T>A (p.Phe217Leu) c.-888+1087A>T (n.-888+1087A>T) | |
17 | g.4933255T>C | CA497677200 | CHRNE,GP1BA | c.651T>C (p.Phe217=) c.-888+1087A>G (n.-888+1087A>G) | |
17 | g.4933255T>G | CA397317891 | CHRNE,GP1BA | c.651T>G (p.Phe217Leu) c.-888+1087A>C (n.-888+1087A>C) | |
17 | g.4933256C>A | CA397317894 | CHRNE,GP1BA | c.652C>A (p.Leu218Ile) c.-888+1086G>T (n.-888+1086G>T) | |
17 | g.4933256C>G | CA397317896 | CHRNE,GP1BA | c.652C>G (p.Leu218Val) c.-888+1086G>C (n.-888+1086G>C) | |
17 | g.4933256C>T | CA397317898 | CHRNE,GP1BA | c.652C>T (p.Leu218Phe) c.-888+1086G>A (n.-888+1086G>A) | |
17 | g.4933257T>A | CA397317902 | CHRNE,GP1BA | c.653T>A (p.Leu218His) c.-888+1085A>T (n.-888+1085A>T) | |
17 | g.4933257T>C | CA397317901 | CHRNE,GP1BA | c.653T>C (p.Leu218Pro) c.-888+1085A>G (n.-888+1085A>G) | |
17 | g.4933257T>G | CA397317900 | CHRNE,GP1BA | c.653T>G (p.Leu218Arg) c.-888+1085A>C (n.-888+1085A>C) | |
17 | g.4933258C>A | CA497677201 | CHRNE,GP1BA | c.654C>A (p.Leu218=) c.-888+1084G>T (n.-888+1084G>T) | |
17 | g.4933258C>G | CA497677202 | CHRNE,GP1BA | c.654C>G (p.Leu218=) c.-888+1084G>C (n.-888+1084G>C) | |
17 | g.4933258C>T | CA497677203 | CHRNE,GP1BA | c.654C>T (p.Leu218=) c.-888+1084G>A (n.-888+1084G>A) | |
17 | g.4933259C>A | CA397317903 | CHRNE,GP1BA | c.655C>A (p.His219Asn) c.-888+1083G>T (n.-888+1083G>T) | |
17 | g.4933259C>G | CA397317905 | CHRNE,GP1BA | c.655C>G (p.His219Asp) c.-888+1083G>C (n.-888+1083G>C) | |
17 | g.4933259C>T | CA397317907 | CHRNE,GP1BA | c.655C>T (p.His219Tyr) c.-888+1083G>A (n.-888+1083G>A) | |
17 | g.4933260A>C | CA397317908 | CHRNE,GP1BA | c.656A>C (p.His219Pro) c.-888+1082T>G (n.-888+1082T>G) | |
17 | g.4933260A>G | CA397317910 | CHRNE,GP1BA | c.656A>G (p.His219Arg) c.-888+1082T>C (n.-888+1082T>C) | |
17 | g.4933260A>T | CA397317912 | CHRNE,GP1BA | c.656A>T (p.His219Leu) c.-888+1082T>A (n.-888+1082T>A) | |
17 | g.4933261C>A | CA397317914 | CHRNE,GP1BA | c.657C>A (p.His219Gln) c.-888+1081G>T (n.-888+1081G>T) | ClinVar dbSNP |
17 | g.4933261C= | CA2244625488 | CHRNE,GP1BA | c.657C= (p.His219=) c.-888+1081G= (n.-888+1081G=) | |
17 | g.4933261C>G | CA397317916 | CHRNE,GP1BA | c.657C>G (p.His219Gln) c.-888+1081G>C (n.-888+1081G>C) | |
17 | g.4933261C>T | CA8314811 | CHRNE,GP1BA | c.657C>T (p.His219=) c.-888+1081G>A (n.-888+1081G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933262G>A | CA287216396 | CHRNE,GP1BA | c.658G>A (p.Gly220Arg) c.-888+1080C>T (n.-888+1080C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933262G>C | CA397317929 | CHRNE,GP1BA | c.658G>C (p.Gly220Arg) c.-888+1080C>G (n.-888+1080C>G) | |
17 | g.4933262G= | CA2244625489 | CHRNE,GP1BA | c.658G= (p.Gly220=) c.-888+1080C= (n.-888+1080C=) | |
17 | g.4933262G>T | CA397317932 | CHRNE,GP1BA | c.658G>T (p.Gly220Trp) c.-888+1080C>A (n.-888+1080C>A) | |
17 | g.4933263G>A | CA397317938 | CHRNE,GP1BA | c.659G>A (p.Gly220Glu) c.-888+1079C>T (n.-888+1079C>T) | |
17 | g.4933263G>C | CA397317941 | CHRNE,GP1BA | c.659G>C (p.Gly220Ala) c.-888+1079C>G (n.-888+1079C>G) | |
17 | g.4933263G>T | CA397317935 | CHRNE,GP1BA | c.659G>T (p.Gly220Val) c.-888+1079C>A (n.-888+1079C>A) | |
17 | g.4933264G>A | CA497677204 | CHRNE,GP1BA | c.660G>A (p.Gly220=) c.-888+1078C>T (n.-888+1078C>T) | gnomAD v4 |
17 | g.4933264G>C | CA497677205 | CHRNE,GP1BA | c.660G>C (p.Gly220=) c.-888+1078C>G (n.-888+1078C>G) | |
17 | g.4933264G>T | CA497677206 | CHRNE,GP1BA | c.660G>T (p.Gly220=) c.-888+1078C>A (n.-888+1078C>A) | |
17 | g.4933265A>C | CA397317942 | CHRNE,GP1BA | c.661A>C (p.Asn221His) c.-888+1077T>G (n.-888+1077T>G) | |
17 | g.4933265A>G | CA397317943 | CHRNE,GP1BA | c.661A>G (p.Asn221Asp) c.-888+1077T>C (n.-888+1077T>C) | |
17 | g.4933265A>T | CA397317945 | CHRNE,GP1BA | c.661A>T (p.Asn221Tyr) c.-888+1077T>A (n.-888+1077T>A) | |
17 | g.4933266A= | CA2244625490 | CHRNE,GP1BA | c.662A= (p.Asn221=) c.-888+1076T= (n.-888+1076T=) | |
17 | g.4933266A>C | CA397317951 | CHRNE,GP1BA | c.662A>C (p.Asn221Thr) c.-888+1076T>G (n.-888+1076T>G) | |
17 | g.4933266A>G | CA8314812 | CHRNE,GP1BA | c.662A>G (p.Asn221Ser) c.-888+1076T>C (n.-888+1076T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933266A>T | CA397317953 | CHRNE,GP1BA | c.662A>T (p.Asn221Ile) c.-888+1076T>A (n.-888+1076T>A) | |
17 | g.4933267C>A | CA397317955 | CHRNE,GP1BA | c.663C>A (p.Asn221Lys) c.-888+1075G>T (n.-888+1075G>T) | |
17 | g.4933267C= | CA2244625491 | CHRNE,GP1BA | c.663C= (p.Asn221=) c.-888+1075G= (n.-888+1075G=) | |
17 | g.4933267C>G | CA397317958 | CHRNE,GP1BA | c.663C>G (p.Asn221Lys) c.-888+1075G>C (n.-888+1075G>C) | |
17 | g.4933267C>T | CA497677207 | CHRNE,GP1BA | c.663C>T (p.Asn221=) c.-888+1075G>A (n.-888+1075G>A) | dbSNP gnomAD v4 |
17 | g.4933268C>A | CA397317960 | CHRNE,GP1BA | c.664C>A (p.Pro222Thr) c.-888+1074G>T (n.-888+1074G>T) | gnomAD v4 COSMIC |
17 | g.4933268C= | CA2244625492 | CHRNE,GP1BA | c.664C= (p.Pro222=) c.-888+1074G= (n.-888+1074G=) | |
17 | g.4933268C>G | CA287216400 | CHRNE,GP1BA | c.664C>G (p.Pro222Ala) c.-888+1074G>C (n.-888+1074G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933268C>T | CA397317965 | CHRNE,GP1BA | c.664C>T (p.Pro222Ser) c.-888+1074G>A (n.-888+1074G>A) | |
17 | g.4933269C>A | CA397317967 | CHRNE,GP1BA | c.665C>A (p.Pro222His) c.-888+1073G>T (n.-888+1073G>T) | |
17 | g.4933269C>G | CA397317969 | CHRNE,GP1BA | c.665C>G (p.Pro222Arg) c.-888+1073G>C (n.-888+1073G>C) | |
17 | g.4933269C>T | CA397317972 | CHRNE,GP1BA | c.665C>T (p.Pro222Leu) c.-888+1073G>A (n.-888+1073G>A) | |
17 | g.4933270C>A | CA287216407 | CHRNE,GP1BA | c.666C>A (p.Pro222=) c.-888+1072G>T (n.-888+1072G>T) | dbSNP gnomAD v4 |
17 | g.4933270C= | CA2244625493 | CHRNE,GP1BA | c.666C= (p.Pro222=) c.-888+1072G= (n.-888+1072G=) | |
17 | g.4933270C>G | CA497677208 | CHRNE,GP1BA | c.666C>G (p.Pro222=) c.-888+1072G>C (n.-888+1072G>C) | |
17 | g.4933270C>T | CA497677209 | CHRNE,GP1BA | c.666C>T (p.Pro222=) c.-888+1072G>A (n.-888+1072G>A) | |
17 | g.4933271del | CA2635578788 | CHRNE,GP1BA | c.667del (p.Trp223GlyfsTer?) c.-888+1071del (n.-888+1071del) | gnomAD v4 |
17 | g.4933271T>A | CA397317979 | CHRNE,GP1BA | c.667T>A (p.Trp223Arg) c.-888+1071A>T (n.-888+1071A>T) | |
17 | g.4933271T>C | CA397317978 | CHRNE,GP1BA | c.667T>C (p.Trp223Arg) c.-888+1071A>G (n.-888+1071A>G) | |
17 | g.4933271T>G | CA8314813 | CHRNE,GP1BA | c.667T>G (p.Trp223Gly) c.-888+1071A>C (n.-888+1071A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933271T= | CA2244625494 | CHRNE,GP1BA | c.667T= (p.Trp223=) c.-888+1071A= (n.-888+1071A=) | |
17 | g.4933272G>A | CA397317983 | CHRNE,GP1BA | c.668G>A (p.Trp223Ter) c.-888+1070C>T (n.-888+1070C>T) | gnomAD v4 |
17 | g.4933272G>C | CA397317981 | CHRNE,GP1BA | c.668G>C (p.Trp223Ser) c.-888+1070C>G (n.-888+1070C>G) | |
17 | g.4933272G>T | CA397317986 | CHRNE,GP1BA | c.668G>T (p.Trp223Leu) c.-888+1070C>A (n.-888+1070C>A) | |
17 | g.4933273G>A | CA397317989 | CHRNE,GP1BA | c.669G>A (p.Trp223Ter) c.-888+1069C>T (n.-888+1069C>T) | |
17 | g.4933273G>C | CA397317993 | CHRNE,GP1BA | c.669G>C (p.Trp223Cys) c.-888+1069C>G (n.-888+1069C>G) | |
17 | g.4933273G>T | CA397317991 | CHRNE,GP1BA | c.669G>T (p.Trp223Cys) c.-888+1069C>A (n.-888+1069C>A) | |
17 | g.4933274T>A | CA397317995 | CHRNE,GP1BA | c.670T>A (p.Leu224Ile) c.-888+1068A>T (n.-888+1068A>T) | |
17 | g.4933274T>C | CA497677210 | CHRNE,GP1BA | c.670T>C (p.Leu224=) c.-888+1068A>G (n.-888+1068A>G) | gnomAD v4 |
17 | g.4933274T>G | CA397317998 | CHRNE,GP1BA | c.670T>G (p.Leu224Val) c.-888+1068A>C (n.-888+1068A>C) | |
17 | g.4933275T>A | CA397318001 | CHRNE,GP1BA | c.671T>A (p.Leu224Ter) c.-888+1067A>T (n.-888+1067A>T) | |
17 | g.4933275T>C | CA397318003 | CHRNE,GP1BA | c.671T>C (p.Leu224Ser) c.-888+1067A>G (n.-888+1067A>G) | |
17 | g.4933275T>G | CA397318006 | CHRNE,GP1BA | c.671T>G (p.Leu224Ter) c.-888+1067A>C (n.-888+1067A>C) | |
17 | g.4933276A>C | CA397318008 | CHRNE,GP1BA | c.672A>C (p.Leu224Phe) c.-888+1066T>G (n.-888+1066T>G) | |
17 | g.4933276A>G | CA497677211 | CHRNE,GP1BA | c.672A>G (p.Leu224=) c.-888+1066T>C (n.-888+1066T>C) | gnomAD v4 |
17 | g.4933276A>T | CA397318009 | CHRNE,GP1BA | c.672A>T (p.Leu224Phe) c.-888+1066T>A (n.-888+1066T>A) | |
17 | g.4933277T>A | CA397318012 | CHRNE,GP1BA | c.673T>A (p.Cys225Ser) c.-888+1065A>T (n.-888+1065A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933277T>C | CA397318014 | CHRNE,GP1BA | c.673T>C (p.Cys225Arg) c.-888+1065A>G (n.-888+1065A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.4933277T>G | CA397318015 | CHRNE,GP1BA | c.673T>G (p.Cys225Gly) c.-888+1065A>C (n.-888+1065A>C) | |
17 | g.4933277T= | CA2244625495 | CHRNE,GP1BA | c.673T= (p.Cys225=) c.-888+1065A= (n.-888+1065A=) | |
17 | g.4933277_4933291del | CA2635578789 | CHRNE,GP1BA | c.673_687del (p.Cys225_Ile229del) c.-888+1051_-888+1065del (n.-888+1051_-888+1065del) | gnomAD v4 |
17 | g.4933278G>A | CA397318016 | CHRNE,GP1BA | c.674G>A (p.Cys225Tyr) c.-888+1064C>T (n.-888+1064C>T) | |
17 | g.4933278G>C | CA397318017 | CHRNE,GP1BA | c.674G>C (p.Cys225Ser) c.-888+1064C>G (n.-888+1064C>G) | ClinVar dbSNP |
17 | g.4933278G>T | CA397318018 | CHRNE,GP1BA | c.674G>T (p.Cys225Phe) c.-888+1064C>A (n.-888+1064C>A) | |
17 | g.4933279C>A | CA397318019 | CHRNE,GP1BA | c.675C>A (p.Cys225Ter) c.-888+1063G>T (n.-888+1063G>T) | |
17 | g.4933279C>G | CA397318020 | CHRNE,GP1BA | c.675C>G (p.Cys225Trp) c.-888+1063G>C (n.-888+1063G>C) | |
17 | g.4933279C>T | CA497677212 | CHRNE,GP1BA | c.675C>T (p.Cys225=) c.-888+1063G>A (n.-888+1063G>A) | |
17 | g.4933280A>C | CA397318021 | CHRNE,GP1BA | c.676A>C (p.Asn226His) c.-888+1062T>G (n.-888+1062T>G) | |
17 | g.4933280A>G | CA397318024 | CHRNE,GP1BA | c.676A>G (p.Asn226Asp) c.-888+1062T>C (n.-888+1062T>C) | |
17 | g.4933280A>T | CA397318023 | CHRNE,GP1BA | c.676A>T (p.Asn226Tyr) c.-888+1062T>A (n.-888+1062T>A) | |
17 | g.4933281A>C | CA397318025 | CHRNE,GP1BA | c.677A>C (p.Asn226Thr) c.-888+1061T>G (n.-888+1061T>G) | |
17 | g.4933281A>G | CA397318027 | CHRNE,GP1BA | c.677A>G (p.Asn226Ser) c.-888+1061T>C (n.-888+1061T>C) | |
17 | g.4933281A>T | CA397318029 | CHRNE,GP1BA | c.677A>T (p.Asn226Ile) c.-888+1061T>A (n.-888+1061T>A) | |
17 | g.4933282C>A | CA397318031 | CHRNE,GP1BA | c.678C>A (p.Asn226Lys) c.-888+1060G>T (n.-888+1060G>T) | |
17 | g.4933282C>G | CA397318034 | CHRNE,GP1BA | c.678C>G (p.Asn226Lys) c.-888+1060G>C (n.-888+1060G>C) | gnomAD v4 |
17 | g.4933282C>T | CA497677213 | CHRNE,GP1BA | c.678C>T (p.Asn226=) c.-888+1060G>A (n.-888+1060G>A) | |
17 | g.4933283T>A | CA397318036 | CHRNE,GP1BA | c.679T>A (p.Cys227Ser) c.-888+1059A>T (n.-888+1059A>T) | |
17 | g.4933283T>C | CA397318039 | CHRNE,GP1BA | c.679T>C (p.Cys227Arg) c.-888+1059A>G (n.-888+1059A>G) | gnomAD v4 COSMIC |
17 | g.4933283T>G | CA397318042 | CHRNE,GP1BA | c.679T>G (p.Cys227Gly) c.-888+1059A>C (n.-888+1059A>C) | |
17 | g.4933284G>A | CA397318048 | CHRNE,GP1BA | c.680G>A (p.Cys227Tyr) c.-888+1058C>T (n.-888+1058C>T) | |
17 | g.4933284G>C | CA397318051 | CHRNE,GP1BA | c.680G>C (p.Cys227Ser) c.-888+1058C>G (n.-888+1058C>G) | |
17 | g.4933284G>T | CA397318053 | CHRNE,GP1BA | c.680G>T (p.Cys227Phe) c.-888+1058C>A (n.-888+1058C>A) | |
17 | g.4933285T>A | CA397318056 | CHRNE,GP1BA | c.681T>A (p.Cys227Ter) c.-888+1057A>T (n.-888+1057A>T) | COSMIC |
17 | g.4933285T>C | CA497677214 | CHRNE,GP1BA | c.681T>C (p.Cys227=) c.-888+1057A>G (n.-888+1057A>G) | |
17 | g.4933285T>G | CA397318057 | CHRNE,GP1BA | c.681T>G (p.Cys227Trp) c.-888+1057A>C (n.-888+1057A>C) | gnomAD v4 |
17 | g.4933286G>A | CA397318061 | CHRNE,GP1BA | c.682G>A (p.Glu228Lys) c.-888+1056C>T (n.-888+1056C>T) | |
17 | g.4933286G>C | CA397318063 | CHRNE,GP1BA | c.682G>C (p.Glu228Gln) c.-888+1056C>G (n.-888+1056C>G) | |
17 | g.4933286G>T | CA397318064 | CHRNE,GP1BA | c.682G>T (p.Glu228Ter) c.-888+1056C>A (n.-888+1056C>A) | |
17 | g.4933287A>C | CA397318067 | CHRNE,GP1BA | c.683A>C (p.Glu228Ala) c.-888+1055T>G (n.-888+1055T>G) | |
17 | g.4933287A>G | CA397318069 | CHRNE,GP1BA | c.683A>G (p.Glu228Gly) c.-888+1055T>C (n.-888+1055T>C) | |
17 | g.4933287A>T | CA397318072 | CHRNE,GP1BA | c.683A>T (p.Glu228Val) c.-888+1055T>A (n.-888+1055T>A) | |
17 | g.4933288G>A | CA497677215 | CHRNE,GP1BA | c.684G>A (p.Glu228=) c.-888+1054C>T (n.-888+1054C>T) | |
17 | g.4933288G>C | CA397318073 | CHRNE,GP1BA | c.684G>C (p.Glu228Asp) c.-888+1054C>G (n.-888+1054C>G) | |
17 | g.4933288G>T | CA397318076 | CHRNE,GP1BA | c.684G>T (p.Glu228Asp) c.-888+1054C>A (n.-888+1054C>A) | |
17 | g.4933289A>C | CA397318078 | CHRNE,GP1BA | c.685A>C (p.Ile229Leu) c.-888+1053T>G (n.-888+1053T>G) | |
17 | g.4933289A>G | CA397318080 | CHRNE,GP1BA | c.685A>G (p.Ile229Val) c.-888+1053T>C (n.-888+1053T>C) | |
17 | g.4933289A>T | CA397318082 | CHRNE,GP1BA | c.685A>T (p.Ile229Phe) c.-888+1053T>A (n.-888+1053T>A) | |
17 | g.4933290T>A | CA8314814 | CHRNE,GP1BA | c.686T>A (p.Ile229Asn) c.-888+1052A>T (n.-888+1052A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933290T>C | CA397318087 | CHRNE,GP1BA | c.686T>C (p.Ile229Thr) c.-888+1052A>G (n.-888+1052A>G) | |
17 | g.4933290T>G | CA397318085 | CHRNE,GP1BA | c.686T>G (p.Ile229Ser) c.-888+1052A>C (n.-888+1052A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933290T= | CA2244625496 | CHRNE,GP1BA | c.686T= (p.Ile229=) c.-888+1052A= (n.-888+1052A=) | |
17 | g.4933291C>A | CA497677216 | CHRNE,GP1BA | c.687C>A (p.Ile229=) c.-888+1051G>T (n.-888+1051G>T) | |
17 | g.4933291C>G | CA397318091 | CHRNE,GP1BA | c.687C>G (p.Ile229Met) c.-888+1051G>C (n.-888+1051G>C) | |
17 | g.4933291C>T | CA497677217 | CHRNE,GP1BA | c.687C>T (p.Ile229=) c.-888+1051G>A (n.-888+1051G>A) | gnomAD v4 |
17 | g.4933292C>A | CA397318103 | CHRNE,GP1BA | c.688C>A (p.Leu230Ile) c.-888+1050G>T (n.-888+1050G>T) | |
17 | g.4933292C>G | CA397318105 | CHRNE,GP1BA | c.688C>G (p.Leu230Val) c.-888+1050G>C (n.-888+1050G>C) | |
17 | g.4933292C>T | CA397318107 | CHRNE,GP1BA | c.688C>T (p.Leu230Phe) c.-888+1050G>A (n.-888+1050G>A) | |
17 | g.4933293T>A | CA397318111 | CHRNE,GP1BA | c.689T>A (p.Leu230His) c.-888+1049A>T (n.-888+1049A>T) | |
17 | g.4933293T>C | CA397318114 | CHRNE,GP1BA | c.689T>C (p.Leu230Pro) c.-888+1049A>G (n.-888+1049A>G) | |
17 | g.4933293T>G | CA397318115 | CHRNE,GP1BA | c.689T>G (p.Leu230Arg) c.-888+1049A>C (n.-888+1049A>C) | |
17 | g.4933294C>A | CA497677220 | CHRNE,GP1BA | c.690C>A (p.Leu230=) c.-888+1048G>T (n.-888+1048G>T) | |
17 | g.4933294C>G | CA497677219 | CHRNE,GP1BA | c.690C>G (p.Leu230=) c.-888+1048G>C (n.-888+1048G>C) | |
17 | g.4933294C>T | CA497677218 | CHRNE,GP1BA | c.690C>T (p.Leu230=) c.-888+1048G>A (n.-888+1048G>A) | |
17 | g.4933295T>A | CA397318118 | CHRNE,GP1BA | c.691T>A (p.Tyr231Asn) c.-888+1047A>T (n.-888+1047A>T) | |
17 | g.4933295T>C | CA397318119 | CHRNE,GP1BA | c.691T>C (p.Tyr231His) c.-888+1047A>G (n.-888+1047A>G) | |
17 | g.4933295T>G | CA397318124 | CHRNE,GP1BA | c.691T>G (p.Tyr231Asp) c.-888+1047A>C (n.-888+1047A>C) | |
17 | g.4933296A>C | CA397318125 | CHRNE,GP1BA | c.692A>C (p.Tyr231Ser) c.-888+1046T>G (n.-888+1046T>G) | |
17 | g.4933296A>G | CA397318126 | CHRNE,GP1BA | c.692A>G (p.Tyr231Cys) c.-888+1046T>C (n.-888+1046T>C) | |
17 | g.4933296A>T | CA397318127 | CHRNE,GP1BA | c.692A>T (p.Tyr231Phe) c.-888+1046T>A (n.-888+1046T>A) | |
17 | g.4933297T>A | CA397318129 | CHRNE,GP1BA | c.693T>A (p.Tyr231Ter) c.-888+1045A>T (n.-888+1045A>T) | |
17 | g.4933297T>C | CA497677221 | CHRNE,GP1BA | c.693T>C (p.Tyr231=) c.-888+1045A>G (n.-888+1045A>G) | |
17 | g.4933297T>G | CA397318132 | CHRNE,GP1BA | c.693T>G (p.Tyr231Ter) c.-888+1045A>C (n.-888+1045A>C) | |
17 | g.4933298T>A | CA397318134 | CHRNE,GP1BA | c.694T>A (p.Phe232Ile) c.-888+1044A>T (n.-888+1044A>T) | ClinVar |
17 | g.4933298T>C | CA397318138 | CHRNE,GP1BA | c.694T>C (p.Phe232Leu) c.-888+1044A>G (n.-888+1044A>G) | |
17 | g.4933298T>G | CA397318136 | CHRNE,GP1BA | c.694T>G (p.Phe232Val) c.-888+1044A>C (n.-888+1044A>C) | |
17 | g.4933299T>A | CA397318142 | CHRNE,GP1BA | c.695T>A (p.Phe232Tyr) c.-888+1043A>T (n.-888+1043A>T) | |
17 | g.4933299T>C | CA397318144 | CHRNE,GP1BA | c.695T>C (p.Phe232Ser) c.-888+1043A>G (n.-888+1043A>G) | |
17 | g.4933299T>G | CA397318145 | CHRNE,GP1BA | c.695T>G (p.Phe232Cys) c.-888+1043A>C (n.-888+1043A>C) | |
17 | g.4933300T>A | CA397318148 | CHRNE,GP1BA | c.696T>A (p.Phe232Leu) c.-888+1042A>T (n.-888+1042A>T) | |
17 | g.4933300T>C | CA497677222 | CHRNE,GP1BA | c.696T>C (p.Phe232=) c.-888+1042A>G (n.-888+1042A>G) | |
17 | g.4933300T>G | CA8314815 | CHRNE,GP1BA | c.696T>G (p.Phe232Leu) c.-888+1042A>C (n.-888+1042A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933300T= | CA2244625497 | CHRNE,GP1BA | c.696T= (p.Phe232=) c.-888+1042A= (n.-888+1042A=) | |
17 | g.4933301C>A | CA397318154 | CHRNE,GP1BA | c.697C>A (p.Arg233Ser) c.-888+1041G>T (n.-888+1041G>T) | |
17 | g.4933301C= | CA2244625498 | CHRNE,GP1BA | c.697C= (p.Arg233=) c.-888+1041G= (n.-888+1041G=) | |
17 | g.4933301C>G | CA397318156 | CHRNE,GP1BA | c.697C>G (p.Arg233Gly) c.-888+1041G>C (n.-888+1041G>C) | |
17 | g.4933301C>T | CA8314816 | CHRNE,GP1BA | c.697C>T (p.Arg233Cys) c.-888+1041G>A (n.-888+1041G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933302G>A | CA8314817 | CHRNE,GP1BA | c.698G>A (p.Arg233His) c.-888+1040C>T (n.-888+1040C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933302G>C | CA397318160 | CHRNE,GP1BA | c.698G>C (p.Arg233Pro) c.-888+1040C>G (n.-888+1040C>G) | |
17 | g.4933302G= | CA2244625499 | CHRNE,GP1BA | c.698G= (p.Arg233=) c.-888+1040C= (n.-888+1040C=) | |
17 | g.4933302G>T | CA397318163 | CHRNE,GP1BA | c.698G>T (p.Arg233Leu) c.-888+1040C>A (n.-888+1040C>A) | |
17 | g.4933303T>A | CA8314818 | CHRNE,GP1BA | c.699T>A (p.Arg233=) c.-888+1039A>T (n.-888+1039A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933303T>C | CA497677223 | CHRNE,GP1BA | c.699T>C (p.Arg233=) c.-888+1039A>G (n.-888+1039A>G) | |
17 | g.4933303T>G | CA497677224 | CHRNE,GP1BA | c.699T>G (p.Arg233=) c.-888+1039A>C (n.-888+1039A>C) | |
17 | g.4933303T= | CA2244625500 | CHRNE,GP1BA | c.699T= (p.Arg233=) c.-888+1039A= (n.-888+1039A=) | |
17 | g.4933304C>A | CA397318169 | CHRNE,GP1BA | c.700C>A (p.Arg234Ser) c.-888+1038G>T (n.-888+1038G>T) | |
17 | g.4933304C= | CA2244625501 | CHRNE,GP1BA | c.700C= (p.Arg234=) c.-888+1038G= (n.-888+1038G=) | |
17 | g.4933304C>G | CA397318175 | CHRNE,GP1BA | c.700C>G (p.Arg234Gly) c.-888+1038G>C (n.-888+1038G>C) | |
17 | g.4933304C>T | CA8314819 | CHRNE,GP1BA | c.700C>T (p.Arg234Cys) c.-888+1038G>A (n.-888+1038G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933305G>A | CA8314820 | CHRNE,GP1BA | c.701G>A (p.Arg234His) c.-888+1037C>T (n.-888+1037C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933305G>C | CA397318178 | CHRNE,GP1BA | c.701G>C (p.Arg234Pro) c.-888+1037C>G (n.-888+1037C>G) | |
17 | g.4933305G= | CA2244625502 | CHRNE,GP1BA | c.701G= (p.Arg234=) c.-888+1037C= (n.-888+1037C=) | |
17 | g.4933305G>T | CA397318181 | CHRNE,GP1BA | c.701G>T (p.Arg234Leu) c.-888+1037C>A (n.-888+1037C>A) | |
17 | g.4933309_4933312del | CA2576136023 | CHRNE,GP1BA | c.705_708del (p.Trp235CysfsTer20) c.-888+1034_-888+1037del (n.-888+1034_-888+1037del) | |
17 | g.4933306C>A | CA497677225 | CHRNE,GP1BA | c.702C>A (p.Arg234=) c.-888+1036G>T (n.-888+1036G>T) | dbSNP |
17 | g.4933306C= | CA2244625503 | CHRNE,GP1BA | c.702C= (p.Arg234=) c.-888+1036G= (n.-888+1036G=) | |
17 | g.4933306C>G | CA497677226 | CHRNE,GP1BA | c.702C>G (p.Arg234=) c.-888+1036G>C (n.-888+1036G>C) | |
17 | g.4933306C>T | CA497677227 | CHRNE,GP1BA | c.702C>T (p.Arg234=) c.-888+1036G>A (n.-888+1036G>A) | gnomAD v4 |
17 | g.4933307T>A | CA397318184 | CHRNE,GP1BA | c.703T>A (p.Trp235Arg) c.-888+1035A>T (n.-888+1035A>T) | |
17 | g.4933307T>C | CA397318185 | CHRNE,GP1BA | c.703T>C (p.Trp235Arg) c.-888+1035A>G (n.-888+1035A>G) | gnomAD v4 |
17 | g.4933307T>G | CA397318187 | CHRNE,GP1BA | c.703T>G (p.Trp235Gly) c.-888+1035A>C (n.-888+1035A>C) | |
17 | g.4933308G>A | CA397318190 | CHRNE,GP1BA | c.704G>A (p.Trp235Ter) c.-888+1034C>T (n.-888+1034C>T) | |
17 | g.4933308G>C | CA397318192 | CHRNE,GP1BA | c.704G>C (p.Trp235Ser) c.-888+1034C>G (n.-888+1034C>G) | |
17 | g.4933308G>T | CA397318193 | CHRNE,GP1BA | c.704G>T (p.Trp235Leu) c.-888+1034C>A (n.-888+1034C>A) | |
17 | g.4933309G>A | CA397318200 | CHRNE,GP1BA | c.705G>A (p.Trp235Ter) c.-888+1033C>T (n.-888+1033C>T) | |
17 | g.4933309G>C | CA397318202 | CHRNE,GP1BA | c.705G>C (p.Trp235Cys) c.-888+1033C>G (n.-888+1033C>G) | |
17 | g.4933309G>T | CA397318197 | CHRNE,GP1BA | c.705G>T (p.Trp235Cys) c.-888+1033C>A (n.-888+1033C>A) | |
17 | g.4933310C>A | CA397318207 | CHRNE,GP1BA | c.706C>A (p.Leu236Met) c.-888+1032G>T (n.-888+1032G>T) | |
17 | g.4933310C>G | CA397318208 | CHRNE,GP1BA | c.706C>G (p.Leu236Val) c.-888+1032G>C (n.-888+1032G>C) | |
17 | g.4933310C>T | CA497677230 | CHRNE,GP1BA | c.706C>T (p.Leu236=) c.-888+1032G>A (n.-888+1032G>A) | |
17 | g.4933311T>A | CA397318212 | CHRNE,GP1BA | c.707T>A (p.Leu236Gln) c.-888+1031A>T (n.-888+1031A>T) | |
17 | g.4933311T>C | CA397318214 | CHRNE,GP1BA | c.707T>C (p.Leu236Pro) c.-888+1031A>G (n.-888+1031A>G) | |
17 | g.4933311T>G | CA397318217 | CHRNE,GP1BA | c.707T>G (p.Leu236Arg) c.-888+1031A>C (n.-888+1031A>C) | |
17 | g.4933312G>A | CA497677234 | CHRNE,GP1BA | c.708G>A (p.Leu236=) c.-888+1030C>T (n.-888+1030C>T) | |
17 | g.4933312G>C | CA497677235 | CHRNE,GP1BA | c.708G>C (p.Leu236=) c.-888+1030C>G (n.-888+1030C>G) | |
17 | g.4933312G>T | CA497677236 | CHRNE,GP1BA | c.708G>T (p.Leu236=) c.-888+1030C>A (n.-888+1030C>A) | |
17 | g.4933313C>A | CA397318222 | CHRNE,GP1BA | c.709C>A (p.Gln237Lys) c.-888+1029G>T (n.-888+1029G>T) | |
17 | g.4933313C>G | CA397318226 | CHRNE,GP1BA | c.709C>G (p.Gln237Glu) c.-888+1029G>C (n.-888+1029G>C) | |
17 | g.4933313C>T | CA397318228 | CHRNE,GP1BA | c.709C>T (p.Gln237Ter) c.-888+1029G>A (n.-888+1029G>A) | |
17 | g.4933314A>C | CA397318231 | CHRNE,GP1BA | c.710A>C (p.Gln237Pro) c.-888+1028T>G (n.-888+1028T>G) | |
17 | g.4933314A>G | CA397318234 | CHRNE,GP1BA | c.710A>G (p.Gln237Arg) c.-888+1028T>C (n.-888+1028T>C) | |
17 | g.4933314A>T | CA397318236 | CHRNE,GP1BA | c.710A>T (p.Gln237Leu) c.-888+1028T>A (n.-888+1028T>A) | |
17 | g.4933315G>A | CA287216444 | CHRNE,GP1BA | c.711G>A (p.Gln237=) c.-888+1027C>T (n.-888+1027C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933315G>C | CA397318239 | CHRNE,GP1BA | c.711G>C (p.Gln237His) c.-888+1027C>G (n.-888+1027C>G) | |
17 | g.4933315G= | CA2244625504 | CHRNE,GP1BA | c.711G= (p.Gln237=) c.-888+1027C= (n.-888+1027C=) | |
17 | g.4933315G>T | CA397318242 | CHRNE,GP1BA | c.711G>T (p.Gln237His) c.-888+1027C>A (n.-888+1027C>A) | |
17 | g.4933316G>A | CA8314821 | CHRNE,GP1BA | c.712G>A (p.Asp238Asn) c.-888+1026C>T (n.-888+1026C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933316G>C | CA397318247 | CHRNE,GP1BA | c.712G>C (p.Asp238His) c.-888+1026C>G (n.-888+1026C>G) | gnomAD v4 |
17 | g.4933316G= | CA2244625505 | CHRNE,GP1BA | c.712G= (p.Asp238=) c.-888+1026C= (n.-888+1026C=) | |
17 | g.4933316G>T | CA397318244 | CHRNE,GP1BA | c.712G>T (p.Asp238Tyr) c.-888+1026C>A (n.-888+1026C>A) | |
17 | g.4933317A>C | CA397318250 | CHRNE,GP1BA | c.713A>C (p.Asp238Ala) c.-888+1025T>G (n.-888+1025T>G) | |
17 | g.4933317A>G | CA397318253 | CHRNE,GP1BA | c.713A>G (p.Asp238Gly) c.-888+1025T>C (n.-888+1025T>C) | |
17 | g.4933317A>T | CA397318254 | CHRNE,GP1BA | c.713A>T (p.Asp238Val) c.-888+1025T>A (n.-888+1025T>A) | |
17 | g.4933318C>A | CA397318255 | CHRNE,GP1BA | c.714C>A (p.Asp238Glu) c.-888+1024G>T (n.-888+1024G>T) | |
17 | g.4933318C= | CA2244625506 | CHRNE,GP1BA | c.714C= (p.Asp238=) c.-888+1024G= (n.-888+1024G=) | |
17 | g.4933318C>G | CA397318256 | CHRNE,GP1BA | c.714C>G (p.Asp238Glu) c.-888+1024G>C (n.-888+1024G>C) | |
17 | g.4933318C>T | CA497677241 | CHRNE,GP1BA | c.714C>T (p.Asp238=) c.-888+1024G>A (n.-888+1024G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933319A>C | CA397318258 | CHRNE,GP1BA | c.715A>C (p.Asn239His) c.-888+1023T>G (n.-888+1023T>G) | |
17 | g.4933319A>G | CA397318261 | CHRNE,GP1BA | c.715A>G (p.Asn239Asp) c.-888+1023T>C (n.-888+1023T>C) | ClinVar gnomAD v4 |
17 | g.4933319A>T | CA397318265 | CHRNE,GP1BA | c.715A>T (p.Asn239Tyr) c.-888+1023T>A (n.-888+1023T>A) | |
17 | g.4933320A= | CA2244625507 | CHRNE,GP1BA | c.716A= (p.Asn239=) c.-888+1022T= (n.-888+1022T=) | |
17 | g.4933320A>C | CA397318267 | CHRNE,GP1BA | c.716A>C (p.Asn239Thr) c.-888+1022T>G (n.-888+1022T>G) | |
17 | g.4933320A>G | CA8314822 | CHRNE,GP1BA | c.716A>G (p.Asn239Ser) c.-888+1022T>C (n.-888+1022T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933320A>T | CA397318271 | CHRNE,GP1BA | c.716A>T (p.Asn239Ile) c.-888+1022T>A (n.-888+1022T>A) | |
17 | g.4933321T>A | CA397318273 | CHRNE,GP1BA | c.717T>A (p.Asn239Lys) c.-888+1021A>T (n.-888+1021A>T) | |
17 | g.4933321T>C | CA497677246 | CHRNE,GP1BA | c.717T>C (p.Asn239=) c.-888+1021A>G (n.-888+1021A>G) | COSMIC |
17 | g.4933321T>G | CA397318275 | CHRNE,GP1BA | c.717T>G (p.Asn239Lys) c.-888+1021A>C (n.-888+1021A>C) | gnomAD v4 |
17 | g.4933322G>A | CA397318280 | CHRNE,GP1BA | c.718G>A (p.Ala240Thr) c.-888+1020C>T (n.-888+1020C>T) | |
17 | g.4933322G>C | CA397318281 | CHRNE,GP1BA | c.718G>C (p.Ala240Pro) c.-888+1020C>G (n.-888+1020C>G) | |
17 | g.4933322G>T | CA397318278 | CHRNE,GP1BA | c.718G>T (p.Ala240Ser) c.-888+1020C>A (n.-888+1020C>A) | |
17 | g.4933323C>A | CA397318283 | CHRNE,GP1BA | c.719C>A (p.Ala240Asp) c.-888+1019G>T (n.-888+1019G>T) | |
17 | g.4933323C>G | CA397318282 | CHRNE,GP1BA | c.719C>G (p.Ala240Gly) c.-888+1019G>C (n.-888+1019G>C) | |
17 | g.4933323C>T | CA397318284 | CHRNE,GP1BA | c.719C>T (p.Ala240Val) c.-888+1019G>A (n.-888+1019G>A) | |
17 | g.4933324T>A | CA497677252 | CHRNE,GP1BA | c.720T>A (p.Ala240=) c.-888+1018A>T (n.-888+1018A>T) | |
17 | g.4933324T>C | CA497677253 | CHRNE,GP1BA | c.720T>C (p.Ala240=) c.-888+1018A>G (n.-888+1018A>G) | dbSNP |
17 | g.4933324T>G | CA497677254 | CHRNE,GP1BA | c.720T>G (p.Ala240=) c.-888+1018A>C (n.-888+1018A>C) | |
17 | g.4933325G>A | CA397318286 | CHRNE,GP1BA | c.721G>A (p.Glu241Lys) c.-888+1017C>T (n.-888+1017C>T) | dbSNP |
17 | g.4933325G>C | CA397318287 | CHRNE,GP1BA | c.721G>C (p.Glu241Gln) c.-888+1017C>G (n.-888+1017C>G) | |
17 | g.4933325G= | CA2244625508 | CHRNE,GP1BA | c.721G= (p.Glu241=) c.-888+1017C= (n.-888+1017C=) | |
17 | g.4933325G>T | CA397318290 | CHRNE,GP1BA | c.721G>T (p.Glu241Ter) c.-888+1017C>A (n.-888+1017C>A) | dbSNP |
17 | g.4933326A>C | CA397318293 | CHRNE,GP1BA | c.722A>C (p.Glu241Ala) c.-888+1016T>G (n.-888+1016T>G) | |
17 | g.4933326A>G | CA397318295 | CHRNE,GP1BA | c.722A>G (p.Glu241Gly) c.-888+1016T>C (n.-888+1016T>C) | |
17 | g.4933326A>T | CA397318297 | CHRNE,GP1BA | c.722A>T (p.Glu241Val) c.-888+1016T>A (n.-888+1016T>A) | |
17 | g.4933327A>C | CA397318300 | CHRNE,GP1BA | c.723A>C (p.Glu241Asp) c.-888+1015T>G (n.-888+1015T>G) | |
17 | g.4933327A>G | CA497677257 | CHRNE,GP1BA | c.723A>G (p.Glu241=) c.-888+1015T>C (n.-888+1015T>C) | |
17 | g.4933327A>T | CA397318303 | CHRNE,GP1BA | c.723A>T (p.Glu241Asp) c.-888+1015T>A (n.-888+1015T>A) | |
17 | g.4933328A>C | CA397318306 | CHRNE,GP1BA | c.724A>C (p.Asn242His) c.-888+1014T>G (n.-888+1014T>G) | |
17 | g.4933328A>G | CA397318308 | CHRNE,GP1BA | c.724A>G (p.Asn242Asp) c.-888+1014T>C (n.-888+1014T>C) | |
17 | g.4933328A>T | CA397318310 | CHRNE,GP1BA | c.724A>T (p.Asn242Tyr) c.-888+1014T>A (n.-888+1014T>A) | |
17 | g.4933329A>C | CA397318317 | CHRNE,GP1BA | c.725A>C (p.Asn242Thr) c.-888+1013T>G (n.-888+1013T>G) | |
17 | g.4933329A>G | CA397318314 | CHRNE,GP1BA | c.725A>G (p.Asn242Ser) c.-888+1013T>C (n.-888+1013T>C) | |
17 | g.4933329A>T | CA397318315 | CHRNE,GP1BA | c.725A>T (p.Asn242Ile) c.-888+1013T>A (n.-888+1013T>A) | |
17 | g.4933330T>A | CA397318319 | CHRNE,GP1BA | c.726T>A (p.Asn242Lys) c.-888+1012A>T (n.-888+1012A>T) | |
17 | g.4933330T>C | CA497677264 | CHRNE,GP1BA | c.726T>C (p.Asn242=) c.-888+1012A>G (n.-888+1012A>G) | dbSNP gnomAD v4 |
17 | g.4933330T>G | CA397318322 | CHRNE,GP1BA | c.726T>G (p.Asn242Lys) c.-888+1012A>C (n.-888+1012A>C) | |
17 | g.4933330T= | CA2244625509 | CHRNE,GP1BA | c.726T= (p.Asn242=) c.-888+1012A= (n.-888+1012A=) | |
17 | g.4933331G>A | CA397318325 | CHRNE,GP1BA | c.727G>A (p.Val243Ile) c.-888+1011C>T (n.-888+1011C>T) | |
17 | g.4933331G>C | CA397318326 | CHRNE,GP1BA | c.727G>C (p.Val243Leu) c.-888+1011C>G (n.-888+1011C>G) | |
17 | g.4933331G>T | CA397318328 | CHRNE,GP1BA | c.727G>T (p.Val243Phe) c.-888+1011C>A (n.-888+1011C>A) | |
17 | g.4933332T>A | CA397318329 | CHRNE,GP1BA | c.728T>A (p.Val243Asp) c.-888+1010A>T (n.-888+1010A>T) | gnomAD v4 |
17 | g.4933332T>C | CA397318331 | CHRNE,GP1BA | c.728T>C (p.Val243Ala) c.-888+1010A>G (n.-888+1010A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933332T>G | CA397318333 | CHRNE,GP1BA | c.728T>G (p.Val243Gly) c.-888+1010A>C (n.-888+1010A>C) | |
17 | g.4933332T= | CA2244625510 | CHRNE,GP1BA | c.728T= (p.Val243=) c.-888+1010A= (n.-888+1010A=) | |
17 | g.4933333C>A | CA497677270 | CHRNE,GP1BA | c.729C>A (p.Val243=) c.-888+1009G>T (n.-888+1009G>T) | |
17 | g.4933333C>G | CA497677272 | CHRNE,GP1BA | c.729C>G (p.Val243=) c.-888+1009G>C (n.-888+1009G>C) | |
17 | g.4933333C>T | CA497677273 | CHRNE,GP1BA | c.729C>T (p.Val243=) c.-888+1009G>A (n.-888+1009G>A) | |
17 | g.4933334T>A | CA397318335 | CHRNE,GP1BA | c.730T>A (p.Tyr244Asn) c.-888+1008A>T (n.-888+1008A>T) | |
17 | g.4933334T>C | CA397318337 | CHRNE,GP1BA | c.730T>C (p.Tyr244His) c.-888+1008A>G (n.-888+1008A>G) | |
17 | g.4933334T>G | CA397318339 | CHRNE,GP1BA | c.730T>G (p.Tyr244Asp) c.-888+1008A>C (n.-888+1008A>C) | |
17 | g.4933335A>C | CA397318344 | CHRNE,GP1BA | c.731A>C (p.Tyr244Ser) c.-888+1007T>G (n.-888+1007T>G) | |
17 | g.4933335A>G | CA397318346 | CHRNE,GP1BA | c.731A>G (p.Tyr244Cys) c.-888+1007T>C (n.-888+1007T>C) | |
17 | g.4933335A>T | CA397318341 | CHRNE,GP1BA | c.731A>T (p.Tyr244Phe) c.-888+1007T>A (n.-888+1007T>A) | |
17 | g.4933336C>A | CA397318347 | CHRNE,GP1BA | c.732C>A (p.Tyr244Ter) c.-888+1006G>T (n.-888+1006G>T) | |
17 | g.4933336C= | CA2244625511 | CHRNE,GP1BA | c.732C= (p.Tyr244=) c.-888+1006G= (n.-888+1006G=) | |
17 | g.4933336C>G | CA397318349 | CHRNE,GP1BA | c.732C>G (p.Tyr244Ter) c.-888+1006G>C (n.-888+1006G>C) | |
17 | g.4933336C>T | CA8314823 | CHRNE,GP1BA | c.732C>T (p.Tyr244=) c.-888+1006G>A (n.-888+1006G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933337G>A | CA397318352 | CHRNE,GP1BA | c.733G>A (p.Val245Ile) c.-888+1005C>T (n.-888+1005C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933337G>C | CA397318353 | CHRNE,GP1BA | c.733G>C (p.Val245Leu) c.-888+1005C>G (n.-888+1005C>G) | |
17 | g.4933337G= | CA2244625512 | CHRNE,GP1BA | c.733G= (p.Val245=) c.-888+1005C= (n.-888+1005C=) | |
17 | g.4933337G>T | CA397318354 | CHRNE,GP1BA | c.733G>T (p.Val245Leu) c.-888+1005C>A (n.-888+1005C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933338T>A | CA397318355 | CHRNE,GP1BA | c.734T>A (p.Val245Glu) c.-888+1004A>T (n.-888+1004A>T) | |
17 | g.4933338T>C | CA397318356 | CHRNE,GP1BA | c.734T>C (p.Val245Ala) c.-888+1004A>G (n.-888+1004A>G) | gnomAD v4 |
17 | g.4933338T>G | CA397318357 | CHRNE,GP1BA | c.734T>G (p.Val245Gly) c.-888+1004A>C (n.-888+1004A>C) | |
17 | g.4933339A= | CA2244625513 | CHRNE,GP1BA | c.735A= (p.Val245=) c.-888+1003T= (n.-888+1003T=) | |
17 | g.4933339A>C | CA497677282 | CHRNE,GP1BA | c.735A>C (p.Val245=) c.-888+1003T>G (n.-888+1003T>G) | |
17 | g.4933339A>G | CA497677283 | CHRNE,GP1BA | c.735A>G (p.Val245=) c.-888+1003T>C (n.-888+1003T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933339A>T | CA497677284 | CHRNE,GP1BA | c.735A>T (p.Val245=) c.-888+1003T>A (n.-888+1003T>A) | |
17 | g.4933340T>A | CA397318358 | CHRNE,GP1BA | c.736T>A (p.Trp246Arg) c.-888+1002A>T (n.-888+1002A>T) | |
17 | g.4933340T>C | CA397318360 | CHRNE,GP1BA | c.736T>C (p.Trp246Arg) c.-888+1002A>G (n.-888+1002A>G) | |
17 | g.4933340T>G | CA397318361 | CHRNE,GP1BA | c.736T>G (p.Trp246Gly) c.-888+1002A>C (n.-888+1002A>C) | |
17 | g.4933341G>A | CA397318364 | CHRNE,GP1BA | c.737G>A (p.Trp246Ter) c.-888+1001C>T (n.-888+1001C>T) | |
17 | g.4933341G>C | CA397318365 | CHRNE,GP1BA | c.737G>C (p.Trp246Ser) c.-888+1001C>G (n.-888+1001C>G) | |
17 | g.4933341G>T | CA397318363 | CHRNE,GP1BA | c.737G>T (p.Trp246Leu) c.-888+1001C>A (n.-888+1001C>A) | ClinVar dbSNP |
17 | g.4933342G>A | CA397318366 | CHRNE,GP1BA | c.738G>A (p.Trp246Ter) c.-888+1000C>T (n.-888+1000C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933342G>C | CA397318367 | CHRNE,GP1BA | c.738G>C (p.Trp246Cys) c.-888+1000C>G (n.-888+1000C>G) | |
17 | g.4933342G= | CA2244625514 | CHRNE,GP1BA | c.738G= (p.Trp246=) c.-888+1000C= (n.-888+1000C=) | |
17 | g.4933342G>T | CA397318368 | CHRNE,GP1BA | c.738G>T (p.Trp246Cys) c.-888+1000C>A (n.-888+1000C>A) | |
17 | g.4933343A>C | CA397318370 | CHRNE,GP1BA | c.739A>C (p.Lys247Gln) c.-888+999T>G (n.-888+999T>G) | |
17 | g.4933343A>G | CA397318371 | CHRNE,GP1BA | c.739A>G (p.Lys247Glu) c.-888+999T>C (n.-888+999T>C) | |
17 | g.4933343A>T | CA397318373 | CHRNE,GP1BA | c.739A>T (p.Lys247Ter) c.-888+999T>A (n.-888+999T>A) | |
17 | g.4933344A>C | CA397318376 | CHRNE,GP1BA | c.740A>C (p.Lys247Thr) c.-888+998T>G (n.-888+998T>G) | |
17 | g.4933344A>G | CA397318379 | CHRNE,GP1BA | c.740A>G (p.Lys247Arg) c.-888+998T>C (n.-888+998T>C) | |
17 | g.4933344A>T | CA397318377 | CHRNE,GP1BA | c.740A>T (p.Lys247Met) c.-888+998T>A (n.-888+998T>A) | |
17 | g.4933345G>A | CA497677424 | CHRNE,GP1BA | c.741G>A (p.Lys247=) c.-888+997C>T (n.-888+997C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933345G>C | CA397318382 | CHRNE,GP1BA | c.741G>C (p.Lys247Asn) c.-888+997C>G (n.-888+997C>G) | |
17 | g.4933345G= | CA2244625515 | CHRNE,GP1BA | c.741G= (p.Lys247=) c.-888+997C= (n.-888+997C=) | |
17 | g.4933345G>T | CA397318384 | CHRNE,GP1BA | c.741G>T (p.Lys247Asn) c.-888+997C>A (n.-888+997C>A) | |
17 | g.4933346C>A | CA397318386 | CHRNE,GP1BA | c.742C>A (p.Gln248Lys) c.-888+996G>T (n.-888+996G>T) | gnomAD v4 |
17 | g.4933346C>G | CA397318389 | CHRNE,GP1BA | c.742C>G (p.Gln248Glu) c.-888+996G>C (n.-888+996G>C) | |
17 | g.4933346C>T | CA397318391 | CHRNE,GP1BA | c.742C>T (p.Gln248Ter) c.-888+996G>A (n.-888+996G>A) | |
17 | g.4933347A>C | CA397318398 | CHRNE,GP1BA | c.743A>C (p.Gln248Pro) c.-888+995T>G (n.-888+995T>G) | |
17 | g.4933347A>G | CA397318399 | CHRNE,GP1BA | c.743A>G (p.Gln248Arg) c.-888+995T>C (n.-888+995T>C) | |
17 | g.4933347A>T | CA397318393 | CHRNE,GP1BA | c.743A>T (p.Gln248Leu) c.-888+995T>A (n.-888+995T>A) | |
17 | g.4933348A>C | CA397318401 | CHRNE,GP1BA | c.744A>C (p.Gln248His) c.-888+994T>G (n.-888+994T>G) | |
17 | g.4933348A>G | CA497677434 | CHRNE,GP1BA | c.744A>G (p.Gln248=) c.-888+994T>C (n.-888+994T>C) | |
17 | g.4933348A>T | CA397318400 | CHRNE,GP1BA | c.744A>T (p.Gln248His) c.-888+994T>A (n.-888+994T>A) | |
17 | g.4933349G>A | CA397318402 | CHRNE,GP1BA | c.745G>A (p.Gly249Ser) c.-888+993C>T (n.-888+993C>T) | ClinVar dbSNP |
17 | g.4933349G>C | CA397318404 | CHRNE,GP1BA | c.745G>C (p.Gly249Arg) c.-888+993C>G (n.-888+993C>G) | |
17 | g.4933349G= | CA2244625516 | CHRNE,GP1BA | c.745G= (p.Gly249=) c.-888+993C= (n.-888+993C=) | |
17 | g.4933349G>T | CA397318407 | CHRNE,GP1BA | c.745G>T (p.Gly249Cys) c.-888+993C>A (n.-888+993C>A) | gnomAD v4 |
17 | g.4933350G>A | CA397318410 | CHRNE,GP1BA | c.746G>A (p.Gly249Asp) c.-888+992C>T (n.-888+992C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.4933350G>C | CA397318412 | CHRNE,GP1BA | c.746G>C (p.Gly249Ala) c.-888+992C>G (n.-888+992C>G) | gnomAD v4 |
17 | g.4933350G= | CA2244625517 | CHRNE,GP1BA | c.746G= (p.Gly249=) c.-888+992C= (n.-888+992C=) | |
17 | g.4933350G>T | CA116659 | CHRNE,GP1BA | c.746G>T (p.Gly249Val) c.-888+992C>A (n.-888+992C>A) | ClinVar dbSNP gnomAD v4 |