Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4933720C>A | CA397320081 | CHRNE,GP1BA | c.1116C>A (p.Phe372Leu) c.-888+622G>T (n.-888+622G>T) | |
17 | g.4933720C= | CA2244625690 | CHRNE,GP1BA | c.1116C= (p.Phe372=) c.-888+622G= (n.-888+622G=) | |
17 | g.4933720C>G | CA397320084 | CHRNE,GP1BA | c.1116C>G (p.Phe372Leu) c.-888+622G>C (n.-888+622G>C) | |
17 | g.4933720C>T | CA8314900 | CHRNE,GP1BA | c.1116C>T (p.Phe372=) c.-888+622G>A (n.-888+622G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933721T>A | CA397320087 | CHRNE,GP1BA | c.1117T>A (p.Ser373Thr) c.-888+621A>T (n.-888+621A>T) | |
17 | g.4933721T>C | CA397320090 | CHRNE,GP1BA | c.1117T>C (p.Ser373Pro) c.-888+621A>G (n.-888+621A>G) | |
17 | g.4933721T>G | CA397320093 | CHRNE,GP1BA | c.1117T>G (p.Ser373Ala) c.-888+621A>C (n.-888+621A>C) | |
17 | g.4933722C>A | CA397320106 | CHRNE,GP1BA | c.1118C>A (p.Ser373Tyr) c.-888+620G>T (n.-888+620G>T) | |
17 | g.4933722C>G | CA397320108 | CHRNE,GP1BA | c.1118C>G (p.Ser373Cys) c.-888+620G>C (n.-888+620G>C) | |
17 | g.4933722C>T | CA397320102 | CHRNE,GP1BA | c.1118C>T (p.Ser373Phe) c.-888+620G>A (n.-888+620G>A) | |
17 | g.4933723C>A | CA497678541 | CHRNE,GP1BA | c.1119C>A (p.Ser373=) c.-888+619G>T (n.-888+619G>T) | |
17 | g.4933723C>G | CA497678542 | CHRNE,GP1BA | c.1119C>G (p.Ser373=) c.-888+619G>C (n.-888+619G>C) | |
17 | g.4933723C>T | CA497678546 | CHRNE,GP1BA | c.1119C>T (p.Ser373=) c.-888+619G>A (n.-888+619G>A) | gnomAD v4 |
17 | g.4933724A>C | CA397320112 | CHRNE,GP1BA | c.1120A>C (p.Lys374Gln) c.-888+618T>G (n.-888+618T>G) | |
17 | g.4933724A>G | CA397320115 | CHRNE,GP1BA | c.1120A>G (p.Lys374Glu) c.-888+618T>C (n.-888+618T>C) | |
17 | g.4933724A>T | CA397320113 | CHRNE,GP1BA | c.1120A>T (p.Lys374Ter) c.-888+618T>A (n.-888+618T>A) | |
17 | g.4933725A= | CA2244625691 | CHRNE,GP1BA | c.1121A= (p.Lys374=) c.-888+617T= (n.-888+617T=) | |
17 | g.4933725A>C | CA397320117 | CHRNE,GP1BA | c.1121A>C (p.Lys374Thr) c.-888+617T>G (n.-888+617T>G) | |
17 | g.4933725A>G | CA397320118 | CHRNE,GP1BA | c.1121A>G (p.Lys374Arg) c.-888+617T>C (n.-888+617T>C) | dbSNP |
17 | g.4933725A>T | CA397320120 | CHRNE,GP1BA | c.1121A>T (p.Lys374Ile) c.-888+617T>A (n.-888+617T>A) | |
17 | g.4933726A>C | CA397320121 | CHRNE,GP1BA | c.1122A>C (p.Lys374Asn) c.-888+616T>G (n.-888+616T>G) | |
17 | g.4933726A>G | CA497677689 | CHRNE,GP1BA | c.1122A>G (p.Lys374=) c.-888+616T>C (n.-888+616T>C) | |
17 | g.4933726A>T | CA397320123 | CHRNE,GP1BA | c.1122A>T (p.Lys374Asn) c.-888+616T>A (n.-888+616T>A) | |
17 | g.4933727A>C | CA397320126 | CHRNE,GP1BA | c.1123A>C (p.Thr375Pro) c.-888+615T>G (n.-888+615T>G) | |
17 | g.4933727A>G | CA397320128 | CHRNE,GP1BA | c.1123A>G (p.Thr375Ala) c.-888+615T>C (n.-888+615T>C) | |
17 | g.4933727A>T | CA397320130 | CHRNE,GP1BA | c.1123A>T (p.Thr375Ser) c.-888+615T>A (n.-888+615T>A) | |
17 | g.4933728C>A | CA397320133 | CHRNE,GP1BA | c.1124C>A (p.Thr375Asn) c.-888+614G>T (n.-888+614G>T) | |
17 | g.4933728C>G | CA397320134 | CHRNE,GP1BA | c.1124C>G (p.Thr375Ser) c.-888+614G>C (n.-888+614G>C) | |
17 | g.4933728C>T | CA397320136 | CHRNE,GP1BA | c.1124C>T (p.Thr375Ile) c.-888+614G>A (n.-888+614G>A) | |
17 | g.4933729T>A | CA497677690 | CHRNE,GP1BA | c.1125T>A (p.Thr375=) c.-888+613A>T (n.-888+613A>T) | |
17 | g.4933729T>C | CA497677691 | CHRNE,GP1BA | c.1125T>C (p.Thr375=) c.-888+613A>G (n.-888+613A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933729T>G | CA497677692 | CHRNE,GP1BA | c.1125T>G (p.Thr375=) c.-888+613A>C (n.-888+613A>C) | |
17 | g.4933729T= | CA2244625692 | CHRNE,GP1BA | c.1125T= (p.Thr375=) c.-888+613A= (n.-888+613A=) | |
17 | g.4933730C>A | CA397320146 | CHRNE,GP1BA | c.1126C>A (p.Pro376Thr) c.-888+612G>T (n.-888+612G>T) | |
17 | g.4933730C= | CA2244625693 | CHRNE,GP1BA | c.1126C= (p.Pro376=) c.-888+612G= (n.-888+612G=) | |
17 | g.4933730C>G | CA287216953 | CHRNE,GP1BA | c.1126C>G (p.Pro376Ala) c.-888+612G>C (n.-888+612G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933730C>T | CA397320138 | CHRNE,GP1BA | c.1126C>T (p.Pro376Ser) c.-888+612G>A (n.-888+612G>A) | |
17 | g.4933731C>A | CA397320148 | CHRNE,GP1BA | c.1127C>A (p.Pro376Gln) c.-888+611G>T (n.-888+611G>T) | |
17 | g.4933731C= | CA2244625694 | CHRNE,GP1BA | c.1127C= (p.Pro376=) c.-888+611G= (n.-888+611G=) | |
17 | g.4933731C>G | CA397320150 | CHRNE,GP1BA | c.1127C>G (p.Pro376Arg) c.-888+611G>C (n.-888+611G>C) | |
17 | g.4933731C>T | CA8314901 | CHRNE,GP1BA | c.1127C>T (p.Pro376Leu) c.-888+611G>A (n.-888+611G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933732A>C | CA497677693 | CHRNE,GP1BA | c.1128A>C (p.Pro376=) c.-888+610T>G (n.-888+610T>G) | |
17 | g.4933732A>G | CA497677694 | CHRNE,GP1BA | c.1128A>G (p.Pro376=) c.-888+610T>C (n.-888+610T>C) | |
17 | g.4933732A>T | CA497677695 | CHRNE,GP1BA | c.1128A>T (p.Pro376=) c.-888+610T>A (n.-888+610T>A) | |
17 | g.4933733A= | CA2244625695 | CHRNE,GP1BA | c.1129A= (p.Lys377=) c.-888+609T= (n.-888+609T=) | |
17 | g.4933733A>C | CA397320154 | CHRNE,GP1BA | c.1129A>C (p.Lys377Gln) c.-888+609T>G (n.-888+609T>G) | |
17 | g.4933733A>G | CA8314902 | CHRNE,GP1BA | c.1129A>G (p.Lys377Glu) c.-888+609T>C (n.-888+609T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933733A>T | CA397320158 | CHRNE,GP1BA | c.1129A>T (p.Lys377Ter) c.-888+609T>A (n.-888+609T>A) | |
17 | g.4933734A>C | CA397320161 | CHRNE,GP1BA | c.1130A>C (p.Lys377Thr) c.-888+608T>G (n.-888+608T>G) | |
17 | g.4933734A>G | CA397320162 | CHRNE,GP1BA | c.1130A>G (p.Lys377Arg) c.-888+608T>C (n.-888+608T>C) | |
17 | g.4933734A>T | CA397320164 | CHRNE,GP1BA | c.1130A>T (p.Lys377Ile) c.-888+608T>A (n.-888+608T>A) | |
17 | g.4933735A>C | CA397320165 | CHRNE,GP1BA | c.1131A>C (p.Lys377Asn) c.-888+607T>G (n.-888+607T>G) | |
17 | g.4933735A>G | CA497677696 | CHRNE,GP1BA | c.1131A>G (p.Lys377=) c.-888+607T>C (n.-888+607T>C) | |
17 | g.4933735A>T | CA397320166 | CHRNE,GP1BA | c.1131A>T (p.Lys377Asn) c.-888+607T>A (n.-888+607T>A) | |
17 | g.4933736T>A | CA397320170 | CHRNE,GP1BA | c.1132T>A (p.Ser378Thr) c.-888+606A>T (n.-888+606A>T) | |
17 | g.4933736T>C | CA397320169 | CHRNE,GP1BA | c.1132T>C (p.Ser378Pro) c.-888+606A>G (n.-888+606A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933736T>G | CA287216958 | CHRNE,GP1BA | c.1132T>G (p.Ser378Ala) c.-888+606A>C (n.-888+606A>C) | dbSNP |
17 | g.4933736T= | CA2244625696 | CHRNE,GP1BA | c.1132T= (p.Ser378=) c.-888+606A= (n.-888+606A=) | |
17 | g.4933737C>A | CA397320173 | CHRNE,GP1BA | c.1133C>A (p.Ser378Tyr) c.-888+605G>T (n.-888+605G>T) | |
17 | g.4933737C>G | CA397320175 | CHRNE,GP1BA | c.1133C>G (p.Ser378Cys) c.-888+605G>C (n.-888+605G>C) | |
17 | g.4933737C>T | CA397320178 | CHRNE,GP1BA | c.1133C>T (p.Ser378Phe) c.-888+605G>A (n.-888+605G>A) | ClinVar |
17 | g.4933738C>A | CA497677697 | CHRNE,GP1BA | c.1134C>A (p.Ser378=) c.-888+604G>T (n.-888+604G>T) | COSMIC |
17 | g.4933738C>G | CA497677698 | CHRNE,GP1BA | c.1134C>G (p.Ser378=) c.-888+604G>C (n.-888+604G>C) | |
17 | g.4933738C>T | CA497677699 | CHRNE,GP1BA | c.1134C>T (p.Ser378=) c.-888+604G>A (n.-888+604G>A) | |
17 | g.4933739A>C | CA397320181 | CHRNE,GP1BA | c.1135A>C (p.Thr379Pro) c.-888+603T>G (n.-888+603T>G) | |
17 | g.4933739A>G | CA397320182 | CHRNE,GP1BA | c.1135A>G (p.Thr379Ala) c.-888+603T>C (n.-888+603T>C) | |
17 | g.4933739A>T | CA397320183 | CHRNE,GP1BA | c.1135A>T (p.Thr379Ser) c.-888+603T>A (n.-888+603T>A) | |
17 | g.4933740C>A | CA397320186 | CHRNE,GP1BA | c.1136C>A (p.Thr379Asn) c.-888+602G>T (n.-888+602G>T) | |
17 | g.4933740C>G | CA397320189 | CHRNE,GP1BA | c.1136C>G (p.Thr379Ser) c.-888+602G>C (n.-888+602G>C) | |
17 | g.4933740C>T | CA397320193 | CHRNE,GP1BA | c.1136C>T (p.Thr379Ile) c.-888+602G>A (n.-888+602G>A) | |
17 | g.4933741T>A | CA497677700 | CHRNE,GP1BA | c.1137T>A (p.Thr379=) c.-888+601A>T (n.-888+601A>T) | |
17 | g.4933741T>C | CA497677701 | CHRNE,GP1BA | c.1137T>C (p.Thr379=) c.-888+601A>G (n.-888+601A>G) | |
17 | g.4933741T>G | CA497677702 | CHRNE,GP1BA | c.1137T>G (p.Thr379=) c.-888+601A>C (n.-888+601A>C) | |
17 | g.4933742A>C | CA397320197 | CHRNE,GP1BA | c.1138A>C (p.Thr380Pro) c.-888+600T>G (n.-888+600T>G) | |
17 | g.4933742A>G | CA397320198 | CHRNE,GP1BA | c.1138A>G (p.Thr380Ala) c.-888+600T>C (n.-888+600T>C) | |
17 | g.4933742A>T | CA397320199 | CHRNE,GP1BA | c.1138A>T (p.Thr380Ser) c.-888+600T>A (n.-888+600T>A) | |
17 | g.4933743C>A | CA397320208 | CHRNE,GP1BA | c.1139C>A (p.Thr380Asn) c.-888+599G>T (n.-888+599G>T) | |
17 | g.4933743C>G | CA397320205 | CHRNE,GP1BA | c.1139C>G (p.Thr380Ser) c.-888+599G>C (n.-888+599G>C) | |
17 | g.4933743C>T | CA397320202 | CHRNE,GP1BA | c.1139C>T (p.Thr380Ile) c.-888+599G>A (n.-888+599G>A) | |
17 | g.4933744T>A | CA497677704 | CHRNE,GP1BA | c.1140T>A (p.Thr380=) c.-888+598A>T (n.-888+598A>T) | |
17 | g.4933744T>C | CA8314903 | CHRNE,GP1BA | c.1140T>C (p.Thr380=) c.-888+598A>G (n.-888+598A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933744T>G | CA497677703 | CHRNE,GP1BA | c.1140T>G (p.Thr380=) c.-888+598A>C (n.-888+598A>C) | |
17 | g.4933744T= | CA2244625697 | CHRNE,GP1BA | c.1140T= (p.Thr380=) c.-888+598A= (n.-888+598A=) | |
17 | g.4933745G>A | CA397320212 | CHRNE,GP1BA | c.1141G>A (p.Glu381Lys) c.-888+597C>T (n.-888+597C>T) | dbSNP |
17 | g.4933745G>C | CA397320215 | CHRNE,GP1BA | c.1141G>C (p.Glu381Gln) c.-888+597C>G (n.-888+597C>G) | |
17 | g.4933745G= | CA2244625698 | CHRNE,GP1BA | c.1141G= (p.Glu381=) c.-888+597C= (n.-888+597C=) | |
17 | g.4933745G>T | CA397320216 | CHRNE,GP1BA | c.1141G>T (p.Glu381Ter) c.-888+597C>A (n.-888+597C>A) | |
17 | g.4933746A>C | CA397320218 | CHRNE,GP1BA | c.1142A>C (p.Glu381Ala) c.-888+596T>G (n.-888+596T>G) | |
17 | g.4933746A>G | CA397320220 | CHRNE,GP1BA | c.1142A>G (p.Glu381Gly) c.-888+596T>C (n.-888+596T>C) | |
17 | g.4933746A>T | CA397320223 | CHRNE,GP1BA | c.1142A>T (p.Glu381Val) c.-888+596T>A (n.-888+596T>A) | |
17 | g.4933747A>C | CA397320226 | CHRNE,GP1BA | c.1143A>C (p.Glu381Asp) c.-888+595T>G (n.-888+595T>G) | |
17 | g.4933747A>G | CA497677705 | CHRNE,GP1BA | c.1143A>G (p.Glu381=) c.-888+595T>C (n.-888+595T>C) | gnomAD v4 |
17 | g.4933747A>T | CA397320227 | CHRNE,GP1BA | c.1143A>T (p.Glu381Asp) c.-888+595T>A (n.-888+595T>A) | |
17 | g.4933748C>A | CA397320229 | CHRNE,GP1BA | c.1144C>A (p.Pro382Thr) c.-888+594G>T (n.-888+594G>T) | |
17 | g.4933748C>G | CA397320230 | CHRNE,GP1BA | c.1144C>G (p.Pro382Ala) c.-888+594G>C (n.-888+594G>C) | |
17 | g.4933748C>T | CA397320232 | CHRNE,GP1BA | c.1144C>T (p.Pro382Ser) c.-888+594G>A (n.-888+594G>A) | |
17 | g.4933749C>A | CA8314905 | CHRNE,GP1BA | c.1145C>A (p.Pro382Gln) c.-888+593G>T (n.-888+593G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933749C= | CA2244625699 | CHRNE,GP1BA | c.1145C= (p.Pro382=) c.-888+593G= (n.-888+593G=) | |
17 | g.4933749C>G | CA397320239 | CHRNE,GP1BA | c.1145C>G (p.Pro382Arg) c.-888+593G>C (n.-888+593G>C) | |
17 | g.4933749C>T | CA8314904 | CHRNE,GP1BA | c.1145C>T (p.Pro382Leu) c.-888+593G>A (n.-888+593G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933750A>C | CA497677706 | CHRNE,GP1BA | c.1146A>C (p.Pro382=) c.-888+592T>G (n.-888+592T>G) | |
17 | g.4933750A>G | CA497677707 | CHRNE,GP1BA | c.1146A>G (p.Pro382=) c.-888+592T>C (n.-888+592T>C) | |
17 | g.4933750A>T | CA497677708 | CHRNE,GP1BA | c.1146A>T (p.Pro382=) c.-888+592T>A (n.-888+592T>A) | |
17 | g.4933751A= | CA2244625700 | CHRNE,GP1BA | c.1147A= (p.Thr383=) c.-888+591T= (n.-888+591T=) | |
17 | g.4933751A>C | CA397320242 | CHRNE,GP1BA | c.1147A>C (p.Thr383Pro) c.-888+591T>G (n.-888+591T>G) | |
17 | g.4933751A>G | CA397320244 | CHRNE,GP1BA | c.1147A>G (p.Thr383Ala) c.-888+591T>C (n.-888+591T>C) | dbSNP gnomAD v2 |
17 | g.4933751A>T | CA397320246 | CHRNE,GP1BA | c.1147A>T (p.Thr383Ser) c.-888+591T>A (n.-888+591T>A) | |
17 | g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | CA2244625701 | CHRNE,GP1BA | c.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=) c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT) c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | |
17 | g.4933752C>A | CA8314906 | CHRNE,GP1BA | c.1148C>A (p.Thr383Asn) c.-888+590G>T (n.-888+590G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933752C= | CA2244625702 | CHRNE,GP1BA | c.1148C= (p.Thr383=) c.-888+590G= (n.-888+590G=) | |
17 | g.4933752C>G | CA397320251 | CHRNE,GP1BA | c.1148C>G (p.Thr383Ser) c.-888+590G>C (n.-888+590G>C) | |
17 | g.4933752C>T | CA397320253 | CHRNE,GP1BA | c.1148C>T (p.Thr383Ile) c.-888+590G>A (n.-888+590G>A) | gnomAD v4 |
17 | g.4933756_4933938del | CA980971795 | CHRNE,GP1BA | c.1152_1334del (p.Ser385_Pro445del) c.-888+408_-888+590del (n.-888+408_-888+590del) c.1152_1273-17del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933753C>A | CA497677709 | CHRNE,GP1BA | c.1149C>A (p.Thr383=) c.-888+589G>T (n.-888+589G>T) | |
17 | g.4933753C>G | CA497677710 | CHRNE,GP1BA | c.1149C>G (p.Thr383=) c.-888+589G>C (n.-888+589G>C) | |
17 | g.4933753C>T | CA497677711 | CHRNE,GP1BA | c.1149C>T (p.Thr383=) c.-888+589G>A (n.-888+589G>A) | gnomAD v3 gnomAD v4 |
17 | g.4933753_4933819delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT | CA2244625703 | CHRNE,GP1BA | c.1149_1215delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT (p.Thr383=) c.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG (n.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG) | |
17 | g.4933754C>A | CA397320259 | CHRNE,GP1BA | c.1150C>A (p.Pro384Thr) c.-888+588G>T (n.-888+588G>T) | |
17 | g.4933754C= | CA2244625704 | CHRNE,GP1BA | c.1150C= (p.Pro384=) c.-888+588G= (n.-888+588G=) | |
17 | g.4933754C>G | CA397320258 | CHRNE,GP1BA | c.1150C>G (p.Pro384Ala) c.-888+588G>C (n.-888+588G>C) | |
17 | g.4933754C>T | CA397320256 | CHRNE,GP1BA | c.1150C>T (p.Pro384Ser) c.-888+588G>A (n.-888+588G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933769_4933834del | CA624856137 | CHRNE,GP1BA | c.1165_1230del (p.Ser389_Thr410del) c.-888+523_-888+588del (n.-888+523_-888+588del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933755C>A | CA397320262 | CHRNE,GP1BA | c.1151C>A (p.Pro384Gln) c.-888+587G>T (n.-888+587G>T) | |
17 | g.4933755C>G | CA397320264 | CHRNE,GP1BA | c.1151C>G (p.Pro384Arg) c.-888+587G>C (n.-888+587G>C) | |
17 | g.4933755C>T | CA397320267 | CHRNE,GP1BA | c.1151C>T (p.Pro384Leu) c.-888+587G>A (n.-888+587G>A) | |
17 | g.4933756A>C | CA497677712 | CHRNE,GP1BA | c.1152A>C (p.Pro384=) c.-888+586T>G (n.-888+586T>G) | |
17 | g.4933756A>G | CA497677713 | CHRNE,GP1BA | c.1152A>G (p.Pro384=) c.-888+586T>C (n.-888+586T>C) | |
17 | g.4933756A>T | CA497677714 | CHRNE,GP1BA | c.1152A>T (p.Pro384=) c.-888+586T>A (n.-888+586T>A) | |
17 | g.4933757A= | CA2244625705 | CHRNE,GP1BA | c.1153A= (p.Ser385=) c.-888+585T= (n.-888+585T=) | |
17 | g.4933757A>C | CA397320269 | CHRNE,GP1BA | c.1153A>C (p.Ser385Arg) c.-888+585T>G (n.-888+585T>G) | |
17 | g.4933757A>G | CA8314907 | CHRNE,GP1BA | c.1153A>G (p.Ser385Gly) c.-888+585T>C (n.-888+585T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933757A>T | CA397320271 | CHRNE,GP1BA | c.1153A>T (p.Ser385Cys) c.-888+585T>A (n.-888+585T>A) | |
17 | g.4933758G>A | CA397320278 | CHRNE,GP1BA | c.1154G>A (p.Ser385Asn) c.-888+584C>T (n.-888+584C>T) | dbSNP gnomAD v4 |
17 | g.4933758G>C | CA397320274 | CHRNE,GP1BA | c.1154G>C (p.Ser385Thr) c.-888+584C>G (n.-888+584C>G) | |
17 | g.4933758G= | CA2244625706 | CHRNE,GP1BA | c.1154G= (p.Ser385=) c.-888+584C= (n.-888+584C=) | |
17 | g.4933758G>T | CA397320276 | CHRNE,GP1BA | c.1154G>T (p.Ser385Ile) c.-888+584C>A (n.-888+584C>A) | |
17 | g.4933759C>A | CA397320279 | CHRNE,GP1BA | c.1155C>A (p.Ser385Arg) c.-888+583G>T (n.-888+583G>T) | |
17 | g.4933759C= | CA2244625707 | CHRNE,GP1BA | c.1155C= (p.Ser385=) c.-888+583G= (n.-888+583G=) | |
17 | g.4933759C>G | CA8314908 | CHRNE,GP1BA | c.1155C>G (p.Ser385Arg) c.-888+583G>C (n.-888+583G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933759C>T | CA497677715 | CHRNE,GP1BA | c.1155C>T (p.Ser385=) c.-888+583G>A (n.-888+583G>A) | |
17 | g.4933760C>A | CA397320283 | CHRNE,GP1BA | c.1156C>A (p.Pro386Thr) c.-888+582G>T (n.-888+582G>T) | |
17 | g.4933760C>G | CA397320286 | CHRNE,GP1BA | c.1156C>G (p.Pro386Ala) c.-888+582G>C (n.-888+582G>C) | |
17 | g.4933760C>T | CA397320290 | CHRNE,GP1BA | c.1156C>T (p.Pro386Ser) c.-888+582G>A (n.-888+582G>A) | |
17 | g.4933761C>A | CA397320294 | CHRNE,GP1BA | c.1157C>A (p.Pro386Gln) c.-888+581G>T (n.-888+581G>T) | |
17 | g.4933761C= | CA2244625708 | CHRNE,GP1BA | c.1157C= (p.Pro386=) c.-888+581G= (n.-888+581G=) | |
17 | g.4933761C>G | CA8314909 | CHRNE,GP1BA | c.1157C>G (p.Pro386Arg) c.-888+581G>C (n.-888+581G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933761C>T | CA397320299 | CHRNE,GP1BA | c.1157C>T (p.Pro386Leu) c.-888+581G>A (n.-888+581G>A) | dbSNP gnomAD v4 |
17 | g.4933762del | CA2635579009 | CHRNE,GP1BA | c.1158del (p.Thr387ProfsTer13) c.-888+580del (n.-888+580del) | gnomAD v4 |
17 | g.4933762G>A | CA497677716 | CHRNE,GP1BA | c.1158G>A (p.Pro386=) c.-888+580C>T (n.-888+580C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933762G>C | CA8314910 | CHRNE,GP1BA | c.1158G>C (p.Pro386=) c.-888+580C>G (n.-888+580C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933762G= | CA2244625709 | CHRNE,GP1BA | c.1158G= (p.Pro386=) c.-888+580C= (n.-888+580C=) | |
17 | g.4933762G>T | CA8314911 | CHRNE,GP1BA | c.1158G>T (p.Pro386=) c.-888+580C>A (n.-888+580C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933763A>C | CA397320305 | CHRNE,GP1BA | c.1159A>C (p.Thr387Pro) c.-888+579T>G (n.-888+579T>G) | |
17 | g.4933763A>G | CA397320307 | CHRNE,GP1BA | c.1159A>G (p.Thr387Ala) c.-888+579T>C (n.-888+579T>C) | |
17 | g.4933763A>T | CA397320310 | CHRNE,GP1BA | c.1159A>T (p.Thr387Ser) c.-888+579T>A (n.-888+579T>A) | |
17 | g.4933763_4933919delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | CA2244625710 | CHRNE,GP1BA | c.1159_1315delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC (p.Thr387=) c.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT (n.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT) c.1159_1273-36delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | |
17 | g.4933764C>A | CA397320316 | CHRNE,GP1BA | c.1160C>A (p.Thr387Asn) c.-888+578G>T (n.-888+578G>T) | |
17 | g.4933764C>G | CA397320319 | CHRNE,GP1BA | c.1160C>G (p.Thr387Ser) c.-888+578G>C (n.-888+578G>C) | gnomAD v4 |
17 | g.4933764C>T | CA397320317 | CHRNE,GP1BA | c.1160C>T (p.Thr387Ile) c.-888+578G>A (n.-888+578G>A) | gnomAD v4 |
17 | g.4933779_4933934del | CA980971820 | CHRNE,GP1BA | c.1175_1330del (p.Val392_Pro443del) c.-888+423_-888+578del (n.-888+423_-888+578del) c.1175_1273-21del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933765C>A | CA497677718 | CHRNE,GP1BA | c.1161C>A (p.Thr387=) c.-888+577G>T (n.-888+577G>T) | |
17 | g.4933765C= | CA2244625711 | CHRNE,GP1BA | c.1161C= (p.Thr387=) c.-888+577G= (n.-888+577G=) | |
17 | g.4933765C>G | CA497677717 | CHRNE,GP1BA | c.1161C>G (p.Thr387=) c.-888+577G>C (n.-888+577G>C) | |
17 | g.4933765C>T | CA8314912 | CHRNE,GP1BA | c.1161C>T (p.Thr387=) c.-888+577G>A (n.-888+577G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933766A>C | CA397320320 | CHRNE,GP1BA | c.1162A>C (p.Thr388Pro) c.-888+576T>G (n.-888+576T>G) | gnomAD v4 |
17 | g.4933766A>G | CA397320321 | CHRNE,GP1BA | c.1162A>G (p.Thr388Ala) c.-888+576T>C (n.-888+576T>C) | |
17 | g.4933766A>T | CA397320322 | CHRNE,GP1BA | c.1162A>T (p.Thr388Ser) c.-888+576T>A (n.-888+576T>A) | |
17 | g.4933767C>A | CA397320323 | CHRNE,GP1BA | c.1163C>A (p.Thr388Asn) c.-888+575G>T (n.-888+575G>T) | |
17 | g.4933767C>G | CA397320324 | CHRNE,GP1BA | c.1163C>G (p.Thr388Ser) c.-888+575G>C (n.-888+575G>C) | |
17 | g.4933767C>T | CA397320326 | CHRNE,GP1BA | c.1163C>T (p.Thr388Ile) c.-888+575G>A (n.-888+575G>A) | |
17 | g.4933768C>A | CA497677721 | CHRNE,GP1BA | c.1164C>A (p.Thr388=) c.-888+574G>T (n.-888+574G>T) | |
17 | g.4933768C>G | CA497677720 | CHRNE,GP1BA | c.1164C>G (p.Thr388=) c.-888+574G>C (n.-888+574G>C) | |
17 | g.4933768C>T | CA497677719 | CHRNE,GP1BA | c.1164C>T (p.Thr388=) c.-888+574G>A (n.-888+574G>A) | gnomAD v4 |
17 | g.4933769T>A | CA8314913 | CHRNE,GP1BA | c.1165T>A (p.Ser389Thr) c.-888+573A>T (n.-888+573A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933769T>C | CA287217014 | CHRNE,GP1BA | c.1165T>C (p.Ser389Pro) c.-888+573A>G (n.-888+573A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933769T>G | CA8314914 | CHRNE,GP1BA | c.1165T>G (p.Ser389Ala) c.-888+573A>C (n.-888+573A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933769T= | CA2244625712 | CHRNE,GP1BA | c.1165T= (p.Ser389=) c.-888+573A= (n.-888+573A=) | |
17 | g.4933770C>A | CA397320333 | CHRNE,GP1BA | c.1166C>A (p.Ser389Ter) c.-888+572G>T (n.-888+572G>T) | |
17 | g.4933770C>G | CA397320335 | CHRNE,GP1BA | c.1166C>G (p.Ser389Ter) c.-888+572G>C (n.-888+572G>C) | |
17 | g.4933770C>T | CA397320337 | CHRNE,GP1BA | c.1166C>T (p.Ser389Leu) c.-888+572G>A (n.-888+572G>A) | |
17 | g.4933771A>C | CA497677722 | CHRNE,GP1BA | c.1167A>C (p.Ser389=) c.-888+571T>G (n.-888+571T>G) | |
17 | g.4933771A>G | CA497677724 | CHRNE,GP1BA | c.1167A>G (p.Ser389=) c.-888+571T>C (n.-888+571T>C) | |
17 | g.4933771A>T | CA497677723 | CHRNE,GP1BA | c.1167A>T (p.Ser389=) c.-888+571T>A (n.-888+571T>A) | |
17 | g.4933772G>A | CA397320343 | CHRNE,GP1BA | c.1168G>A (p.Glu390Lys) c.-888+570C>T (n.-888+570C>T) | gnomAD v4 |
17 | g.4933772G>C | CA397320338 | CHRNE,GP1BA | c.1168G>C (p.Glu390Gln) c.-888+570C>G (n.-888+570C>G) | |
17 | g.4933772G>T | CA397320340 | CHRNE,GP1BA | c.1168G>T (p.Glu390Ter) c.-888+570C>A (n.-888+570C>A) | |
17 | g.4933773A>C | CA397320344 | CHRNE,GP1BA | c.1169A>C (p.Glu390Ala) c.-888+569T>G (n.-888+569T>G) | |
17 | g.4933773A>G | CA397320345 | CHRNE,GP1BA | c.1169A>G (p.Glu390Gly) c.-888+569T>C (n.-888+569T>C) | |
17 | g.4933773A>T | CA397320348 | CHRNE,GP1BA | c.1169A>T (p.Glu390Val) c.-888+569T>A (n.-888+569T>A) | |
17 | g.4933774G>A | CA497677725 | CHRNE,GP1BA | c.1170G>A (p.Glu390=) c.-888+568C>T (n.-888+568C>T) | |
17 | g.4933774G>C | CA397320351 | CHRNE,GP1BA | c.1170G>C (p.Glu390Asp) c.-888+568C>G (n.-888+568C>G) | |
17 | g.4933774G>T | CA397320353 | CHRNE,GP1BA | c.1170G>T (p.Glu390Asp) c.-888+568C>A (n.-888+568C>A) | |
17 | g.4933775C>A | CA397320356 | CHRNE,GP1BA | c.1171C>A (p.Pro391Thr) c.-888+567G>T (n.-888+567G>T) | dbSNP gnomAD v4 |
17 | g.4933775C= | CA2244625713 | CHRNE,GP1BA | c.1171C= (p.Pro391=) c.-888+567G= (n.-888+567G=) | |
17 | g.4933775C>G | CA397320358 | CHRNE,GP1BA | c.1171C>G (p.Pro391Ala) c.-888+567G>C (n.-888+567G>C) | |
17 | g.4933775C>T | CA8314915 | CHRNE,GP1BA | c.1171C>T (p.Pro391Ser) c.-888+567G>A (n.-888+567G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933776C>A | CA397320363 | CHRNE,GP1BA | c.1172C>A (p.Pro391His) c.-888+566G>T (n.-888+566G>T) | |
17 | g.4933776C>G | CA397320366 | CHRNE,GP1BA | c.1172C>G (p.Pro391Arg) c.-888+566G>C (n.-888+566G>C) | |
17 | g.4933776C>T | CA397320368 | CHRNE,GP1BA | c.1172C>T (p.Pro391Leu) c.-888+566G>A (n.-888+566G>A) | gnomAD v4 |
17 | g.4933777C>A | CA497677726 | CHRNE,GP1BA | c.1173C>A (p.Pro391=) c.-888+565G>T (n.-888+565G>T) | |
17 | g.4933777C= | CA2244625714 | CHRNE,GP1BA | c.1173C= (p.Pro391=) c.-888+565G= (n.-888+565G=) | |
17 | g.4933777C>G | CA287217041 | CHRNE,GP1BA | c.1173C>G (p.Pro391=) c.-888+565G>C (n.-888+565G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933777C>T | CA8314916 | CHRNE,GP1BA | c.1173C>T (p.Pro391=) c.-888+565G>A (n.-888+565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933778G>A | CA287217045 | CHRNE,GP1BA | c.1174G>A (p.Val392Ile) c.-888+564C>T (n.-888+564C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933778G>C | CA397320376 | CHRNE,GP1BA | c.1174G>C (p.Val392Leu) c.-888+564C>G (n.-888+564C>G) | |
17 | g.4933778G= | CA2244625715 | CHRNE,GP1BA | c.1174G= (p.Val392=) c.-888+564C= (n.-888+564C=) | |
17 | g.4933778G>T | CA397320374 | CHRNE,GP1BA | c.1174G>T (p.Val392Phe) c.-888+564C>A (n.-888+564C>A) | gnomAD v4 |
17 | g.4933779T>A | CA397320378 | CHRNE,GP1BA | c.1175T>A (p.Val392Asp) c.-888+563A>T (n.-888+563A>T) | |
17 | g.4933779T>C | CA397320382 | CHRNE,GP1BA | c.1175T>C (p.Val392Ala) c.-888+563A>G (n.-888+563A>G) | gnomAD v3 gnomAD v4 |
17 | g.4933779T>G | CA397320380 | CHRNE,GP1BA | c.1175T>G (p.Val392Gly) c.-888+563A>C (n.-888+563A>C) | gnomAD v4 |
17 | g.4933780C>A | CA497677727 | CHRNE,GP1BA | c.1176C>A (p.Val392=) c.-888+562G>T (n.-888+562G>T) | |
17 | g.4933780C>G | CA497677728 | CHRNE,GP1BA | c.1176C>G (p.Val392=) c.-888+562G>C (n.-888+562G>C) | gnomAD v4 |
17 | g.4933780C>T | CA497677729 | CHRNE,GP1BA | c.1176C>T (p.Val392=) c.-888+562G>A (n.-888+562G>A) | gnomAD v4 |
17 | g.4933781C>A | CA397320384 | CHRNE,GP1BA | c.1177C>A (p.Pro393Thr) c.-888+561G>T (n.-888+561G>T) | |
17 | g.4933781C>G | CA397320385 | CHRNE,GP1BA | c.1177C>G (p.Pro393Ala) c.-888+561G>C (n.-888+561G>C) | |
17 | g.4933781C>T | CA397320386 | CHRNE,GP1BA | c.1177C>T (p.Pro393Ser) c.-888+561G>A (n.-888+561G>A) | gnomAD v3 gnomAD v4 |
17 | g.4933782C>A | CA397320387 | CHRNE,GP1BA | c.1178C>A (p.Pro393Gln) c.-888+560G>T (n.-888+560G>T) | |
17 | g.4933782C= | CA2244625716 | CHRNE,GP1BA | c.1178C= (p.Pro393=) c.-888+560G= (n.-888+560G=) | |
17 | g.4933782C>G | CA397320388 | CHRNE,GP1BA | c.1178C>G (p.Pro393Arg) c.-888+560G>C (n.-888+560G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933782C>T | CA8314917 | CHRNE,GP1BA | c.1178C>T (p.Pro393Leu) c.-888+560G>A (n.-888+560G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933783G>A | CA8314918 | CHRNE,GP1BA | c.1179G>A (p.Pro393=) c.-888+559C>T (n.-888+559C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933783G>C | CA497677730 | CHRNE,GP1BA | c.1179G>C (p.Pro393=) c.-888+559C>G (n.-888+559C>G) | |
17 | g.4933783G= | CA2244625717 | CHRNE,GP1BA | c.1179G= (p.Pro393=) c.-888+559C= (n.-888+559C=) | |
17 | g.4933783G>T | CA497677731 | CHRNE,GP1BA | c.1179G>T (p.Pro393=) c.-888+559C>A (n.-888+559C>A) | |
17 | g.4933784G>A | CA397320389 | CHRNE,GP1BA | c.1180G>A (p.Glu394Lys) c.-888+558C>T (n.-888+558C>T) | |
17 | g.4933784G>C | CA397320390 | CHRNE,GP1BA | c.1180G>C (p.Glu394Gln) c.-888+558C>G (n.-888+558C>G) | |
17 | g.4933784G>T | CA397320391 | CHRNE,GP1BA | c.1180G>T (p.Glu394Ter) c.-888+558C>A (n.-888+558C>A) | |
17 | g.4933795_4933860del | CA2635579011 | CHRNE,GP1BA | c.1191_1256del (p.Asn398_Pro419del) c.-888+493_-888+558del (n.-888+493_-888+558del) | gnomAD v4 |
17 | g.4933785A>C | CA397320396 | CHRNE,GP1BA | c.1181A>C (p.Glu394Ala) c.-888+557T>G (n.-888+557T>G) | |
17 | g.4933785A>G | CA397320395 | CHRNE,GP1BA | c.1181A>G (p.Glu394Gly) c.-888+557T>C (n.-888+557T>C) | |
17 | g.4933785A>T | CA397320393 | CHRNE,GP1BA | c.1181A>T (p.Glu394Val) c.-888+557T>A (n.-888+557T>A) | gnomAD v4 |
17 | g.4933786G>A | CA497677732 | CHRNE,GP1BA | c.1182G>A (p.Glu394=) c.-888+556C>T (n.-888+556C>T) | gnomAD v4 |
17 | g.4933786G>C | CA397320398 | CHRNE,GP1BA | c.1182G>C (p.Glu394Asp) c.-888+556C>G (n.-888+556C>G) | |
17 | g.4933786G= | CA2244625718 | CHRNE,GP1BA | c.1182G= (p.Glu394=) c.-888+556C= (n.-888+556C=) | |
17 | g.4933786G>T | CA397320400 | CHRNE,GP1BA | c.1182G>T (p.Glu394Asp) c.-888+556C>A (n.-888+556C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933787C>A | CA397320402 | CHRNE,GP1BA | c.1183C>A (p.Pro395Thr) c.-888+555G>T (n.-888+555G>T) | dbSNP |
17 | g.4933787C= | CA2244625719 | CHRNE,GP1BA | c.1183C= (p.Pro395=) c.-888+555G= (n.-888+555G=) | |
17 | g.4933787C>G | CA397320404 | CHRNE,GP1BA | c.1183C>G (p.Pro395Ala) c.-888+555G>C (n.-888+555G>C) | |
17 | g.4933787C>T | CA8314919 | CHRNE,GP1BA | c.1183C>T (p.Pro395Ser) c.-888+555G>A (n.-888+555G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933788C>A | CA397320407 | CHRNE,GP1BA | c.1184C>A (p.Pro395His) c.-888+554G>T (n.-888+554G>T) | |
17 | g.4933788C>G | CA397320409 | CHRNE,GP1BA | c.1184C>G (p.Pro395Arg) c.-888+554G>C (n.-888+554G>C) | |
17 | g.4933788C>T | CA397320411 | CHRNE,GP1BA | c.1184C>T (p.Pro395Leu) c.-888+554G>A (n.-888+554G>A) | |
17 | g.4933789C>A | CA497677734 | CHRNE,GP1BA | c.1185C>A (p.Pro395=) c.-888+553G>T (n.-888+553G>T) | |
17 | g.4933789C= | CA2244625720 | CHRNE,GP1BA | c.1185C= (p.Pro395=) c.-888+553G= (n.-888+553G=) | |
17 | g.4933789C>G | CA497677733 | CHRNE,GP1BA | c.1185C>G (p.Pro395=) c.-888+553G>C (n.-888+553G>C) | |
17 | g.4933789C>T | CA287217077 | CHRNE,GP1BA | c.1185C>T (p.Pro395=) c.-888+553G>A (n.-888+553G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.4933790G>A | CA8314920 | CHRNE,GP1BA | c.1186G>A (p.Ala396Thr) c.-888+552C>T (n.-888+552C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933790G>C | CA397320414 | CHRNE,GP1BA | c.1186G>C (p.Ala396Pro) c.-888+552C>G (n.-888+552C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933790G= | CA2244625721 | CHRNE,GP1BA | c.1186G= (p.Ala396=) c.-888+552C= (n.-888+552C=) | |
17 | g.4933790G>T | CA397320416 | CHRNE,GP1BA | c.1186G>T (p.Ala396Ser) c.-888+552C>A (n.-888+552C>A) | |
17 | g.4933791C>A | CA397320419 | CHRNE,GP1BA | c.1187C>A (p.Ala396Asp) c.-888+551G>T (n.-888+551G>T) | |
17 | g.4933791C>G | CA397320421 | CHRNE,GP1BA | c.1187C>G (p.Ala396Gly) c.-888+551G>C (n.-888+551G>C) | |
17 | g.4933791C>T | CA397320418 | CHRNE,GP1BA | c.1187C>T (p.Ala396Val) c.-888+551G>A (n.-888+551G>A) | |
17 | g.4933792C>A | CA497677735 | CHRNE,GP1BA | c.1188C>A (p.Ala396=) c.-888+550G>T (n.-888+550G>T) | |
17 | g.4933792C>G | CA497677737 | CHRNE,GP1BA | c.1188C>G (p.Ala396=) c.-888+550G>C (n.-888+550G>C) | |
17 | g.4933792C>T | CA497677736 | CHRNE,GP1BA | c.1188C>T (p.Ala396=) c.-888+550G>A (n.-888+550G>A) | gnomAD v4 |
17 | g.4933793C>A | CA397320423 | CHRNE,GP1BA | c.1189C>A (p.Pro397Thr) c.-888+549G>T (n.-888+549G>T) | |
17 | g.4933793C>G | CA397320425 | CHRNE,GP1BA | c.1189C>G (p.Pro397Ala) c.-888+549G>C (n.-888+549G>C) | |
17 | g.4933793C>T | CA397320426 | CHRNE,GP1BA | c.1189C>T (p.Pro397Ser) c.-888+549G>A (n.-888+549G>A) | gnomAD v4 |
17 | g.4933797_4933823del | CA2635579012 | CHRNE,GP1BA | c.1193_1219del (p.Asn398_Pro406del) c.-888+523_-888+549del (n.-888+523_-888+549del) | gnomAD v4 |
17 | g.4933794C>A | CA397320428 | CHRNE,GP1BA | c.1190C>A (p.Pro397Gln) c.-888+548G>T (n.-888+548G>T) | |
17 | g.4933794C= | CA2244625722 | CHRNE,GP1BA | c.1190C= (p.Pro397=) c.-888+548G= (n.-888+548G=) | |
17 | g.4933794C>G | CA397320430 | CHRNE,GP1BA | c.1190C>G (p.Pro397Arg) c.-888+548G>C (n.-888+548G>C) | |
17 | g.4933794C>T | CA8314921 | CHRNE,GP1BA | c.1190C>T (p.Pro397Leu) c.-888+548G>A (n.-888+548G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933795A>C | CA497677738 | CHRNE,GP1BA | c.1191A>C (p.Pro397=) c.-888+547T>G (n.-888+547T>G) | gnomAD v4 |
17 | g.4933795A>G | CA497677739 | CHRNE,GP1BA | c.1191A>G (p.Pro397=) c.-888+547T>C (n.-888+547T>C) | |
17 | g.4933795A>T | CA497677740 | CHRNE,GP1BA | c.1191A>T (p.Pro397=) c.-888+547T>A (n.-888+547T>A) | |
17 | g.4933795_4933797del | CA2635579014 | CHRNE,GP1BA | c.1191_1193del (p.Asn398del) c.-888+545_-888+547del (n.-888+545_-888+547del) | gnomAD v4 |
17 | g.4933796A= | CA2244625723 | CHRNE,GP1BA | c.1192A= (p.Asn398=) c.-888+546T= (n.-888+546T=) | |
17 | g.4933796A>C | CA397320437 | CHRNE,GP1BA | c.1192A>C (p.Asn398His) c.-888+546T>G (n.-888+546T>G) | |
17 | g.4933796A>G | CA397320434 | CHRNE,GP1BA | c.1192A>G (p.Asn398Asp) c.-888+546T>C (n.-888+546T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933796A>T | CA397320435 | CHRNE,GP1BA | c.1192A>T (p.Asn398Tyr) c.-888+546T>A (n.-888+546T>A) | |
17 | g.4933797A>C | CA397320438 | CHRNE,GP1BA | c.1193A>C (p.Asn398Thr) c.-888+545T>G (n.-888+545T>G) | |
17 | g.4933797A>G | CA397320439 | CHRNE,GP1BA | c.1193A>G (p.Asn398Ser) c.-888+545T>C (n.-888+545T>C) | gnomAD v4 |
17 | g.4933797A>T | CA397320441 | CHRNE,GP1BA | c.1193A>T (p.Asn398Ile) c.-888+545T>A (n.-888+545T>A) | gnomAD v3 gnomAD v4 |
17 | g.4933798C>A | CA397320443 | CHRNE,GP1BA | c.1194C>A (p.Asn398Lys) c.-888+544G>T (n.-888+544G>T) | |
17 | g.4933798C= | CA2244625724 | CHRNE,GP1BA | c.1194C= (p.Asn398=) c.-888+544G= (n.-888+544G=) | |
17 | g.4933798C>G | CA397320444 | CHRNE,GP1BA | c.1194C>G (p.Asn398Lys) c.-888+544G>C (n.-888+544G>C) | |
17 | g.4933798C>T | CA497677741 | CHRNE,GP1BA | c.1194C>T (p.Asn398=) c.-888+544G>A (n.-888+544G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933799A= | CA2244625725 | CHRNE,GP1BA | c.1195A= (p.Met399=) c.-888+543T= (n.-888+543T=) | |
17 | g.4933799A>C | CA397320445 | CHRNE,GP1BA | c.1195A>C (p.Met399Leu) c.-888+543T>G (n.-888+543T>G) | gnomAD v3 gnomAD v4 |
17 | g.4933799A>G | CA397320447 | CHRNE,GP1BA | c.1195A>G (p.Met399Val) c.-888+543T>C (n.-888+543T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933799A>T | CA397320446 | CHRNE,GP1BA | c.1195A>T (p.Met399Leu) c.-888+543T>A (n.-888+543T>A) | |
17 | g.4933800_4933823del | CA2635579016 | CHRNE,GP1BA | c.1196_1219del (p.Met399_Pro406del) c.-888+520_-888+543del (n.-888+520_-888+543del) | gnomAD v4 |
17 | g.4933800T>A | CA397320449 | CHRNE,GP1BA | c.1196T>A (p.Met399Lys) c.-888+542A>T (n.-888+542A>T) | |
17 | g.4933800T>C | CA397320451 | CHRNE,GP1BA | c.1196T>C (p.Met399Thr) c.-888+542A>G (n.-888+542A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933800T>G | CA397320453 | CHRNE,GP1BA | c.1196T>G (p.Met399Arg) c.-888+542A>C (n.-888+542A>C) | |
17 | g.4933800T= | CA2244625727 | CHRNE,GP1BA | c.1196T= (p.Met399=) c.-888+542A= (n.-888+542A=) | |
17 | g.4933800_4933803del | CA2808297125 | CHRNE,GP1BA | c.1196_1199del (p.Met399ThrfsTer?) c.-888+539_-888+542del (n.-888+539_-888+542del) | |
17 | g.4933800_4933827delinsTGACCACCCTGGAGCCCACTCCAAGCCC | CA2244625726 | CHRNE,GP1BA | c.1196_1223delinsTGACCACCCTGGAGCCCACTCCAAGCCC (p.Met399=) c.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA (n.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA) | |
17 | g.4933801G>A | CA397320455 | CHRNE,GP1BA | c.1197G>A (p.Met399Ile) c.-888+541C>T (n.-888+541C>T) | gnomAD v4 |
17 | g.4933801G>C | CA287217083 | CHRNE,GP1BA | c.1197G>C (p.Met399Ile) c.-888+541C>G (n.-888+541C>G) | dbSNP gnomAD v4 |
17 | g.4933801G= | CA2244625728 | CHRNE,GP1BA | c.1197G= (p.Met399=) c.-888+541C= (n.-888+541C=) | |
17 | g.4933801G>T | CA397320457 | CHRNE,GP1BA | c.1197G>T (p.Met399Ile) c.-888+541C>A (n.-888+541C>A) | |
17 | g.4933809_4933835del | CA624856138 | CHRNE,GP1BA | c.1205_1231del (p.Leu402_Thr410del) c.-888+515_-888+541del (n.-888+515_-888+541del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933809_4933952del | CA980971848 | CHRNE,GP1BA | c.1205_1348del (p.Leu402_Thr449del) c.-888+398_-888+541del (n.-888+398_-888+541del) c.1205_1273-3del | gnomAD v3 gnomAD v4 |
17 | g.4933802A>C | CA397320459 | CHRNE,GP1BA | c.1198A>C (p.Thr400Pro) c.-888+540T>G (n.-888+540T>G) | |
17 | g.4933802A>G | CA397320461 | CHRNE,GP1BA | c.1198A>G (p.Thr400Ala) c.-888+540T>C (n.-888+540T>C) | |
17 | g.4933802A>T | CA397320463 | CHRNE,GP1BA | c.1198A>T (p.Thr400Ser) c.-888+540T>A (n.-888+540T>A) | |
17 | g.4933803C>A | CA397320464 | CHRNE,GP1BA | c.1199C>A (p.Thr400Asn) c.-888+539G>T (n.-888+539G>T) | |
17 | g.4933803C>G | CA397320466 | CHRNE,GP1BA | c.1199C>G (p.Thr400Ser) c.-888+539G>C (n.-888+539G>C) | |
17 | g.4933803C>T | CA397320467 | CHRNE,GP1BA | c.1199C>T (p.Thr400Ile) c.-888+539G>A (n.-888+539G>A) | |
17 | g.4933804C>A | CA497677745 | CHRNE,GP1BA | c.1200C>A (p.Thr400=) c.-888+538G>T (n.-888+538G>T) | |
17 | g.4933804C>G | CA497677746 | CHRNE,GP1BA | c.1200C>G (p.Thr400=) c.-888+538G>C (n.-888+538G>C) | |
17 | g.4933804C>T | CA497677747 | CHRNE,GP1BA | c.1200C>T (p.Thr400=) c.-888+538G>A (n.-888+538G>A) | |
17 | g.4933805A>C | CA397320470 | CHRNE,GP1BA | c.1201A>C (p.Thr401Pro) c.-888+537T>G (n.-888+537T>G) | |
17 | g.4933805A>G | CA397320471 | CHRNE,GP1BA | c.1201A>G (p.Thr401Ala) c.-888+537T>C (n.-888+537T>C) | |
17 | g.4933805A>T | CA397320469 | CHRNE,GP1BA | c.1201A>T (p.Thr401Ser) c.-888+537T>A (n.-888+537T>A) | |
17 | g.4933806C>A | CA397320473 | CHRNE,GP1BA | c.1202C>A (p.Thr401Asn) c.-888+536G>T (n.-888+536G>T) | |
17 | g.4933806C= | CA2244625729 | CHRNE,GP1BA | c.1202C= (p.Thr401=) c.-888+536G= (n.-888+536G=) | |
17 | g.4933806C>G | CA8314922 | CHRNE,GP1BA | c.1202C>G (p.Thr401Ser) c.-888+536G>C (n.-888+536G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933806C>T | CA287217089 | CHRNE,GP1BA | c.1202C>T (p.Thr401Ile) c.-888+536G>A (n.-888+536G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933808del | CA2635579018 | CHRNE,GP1BA | c.1204del (p.Leu402TrpfsTer?) c.-888+536del (n.-888+536del) | gnomAD v4 |
17 | g.4933807C>A | CA497677750 | CHRNE,GP1BA | c.1203C>A (p.Thr401=) c.-888+535G>T (n.-888+535G>T) | |
17 | g.4933807C>G | CA497677751 | CHRNE,GP1BA | c.1203C>G (p.Thr401=) c.-888+535G>C (n.-888+535G>C) | |
17 | g.4933807C>T | CA497677752 | CHRNE,GP1BA | c.1203C>T (p.Thr401=) c.-888+535G>A (n.-888+535G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933808C>A | CA397320475 | CHRNE,GP1BA | c.1204C>A (p.Leu402Met) c.-888+534G>T (n.-888+534G>T) | |
17 | g.4933808C>G | CA397320476 | CHRNE,GP1BA | c.1204C>G (p.Leu402Val) c.-888+534G>C (n.-888+534G>C) | |
17 | g.4933808C>T | CA497677753 | CHRNE,GP1BA | c.1204C>T (p.Leu402=) c.-888+534G>A (n.-888+534G>A) | |
17 | g.4933809T>A | CA397320477 | CHRNE,GP1BA | c.1205T>A (p.Leu402Gln) c.-888+533A>T (n.-888+533A>T) | gnomAD v4 |
17 | g.4933809T>C | CA397320478 | CHRNE,GP1BA | c.1205T>C (p.Leu402Pro) c.-888+533A>G (n.-888+533A>G) | dbSNP gnomAD v4 |
17 | g.4933809T>G | CA397320479 | CHRNE,GP1BA | c.1205T>G (p.Leu402Arg) c.-888+533A>C (n.-888+533A>C) | gnomAD v4 |
17 | g.4933809T= | CA2244625730 | CHRNE,GP1BA | c.1205T= (p.Leu402=) c.-888+533A= (n.-888+533A=) | |
17 | g.4933810G>A | CA8314923 | CHRNE,GP1BA | c.1206G>A (p.Leu402=) c.-888+532C>T (n.-888+532C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933810G>C | CA497677757 | CHRNE,GP1BA | c.1206G>C (p.Leu402=) c.-888+532C>G (n.-888+532C>G) | |
17 | g.4933810G= | CA2244625731 | CHRNE,GP1BA | c.1206G= (p.Leu402=) c.-888+532C= (n.-888+532C=) | |
17 | g.4933810G>T | CA497677758 | CHRNE,GP1BA | c.1206G>T (p.Leu402=) c.-888+532C>A (n.-888+532C>A) | |
17 | g.4933810_4933837delinsGGAGCCCACTCCAAGCCCGACCACCCCA | CA2244625732 | CHRNE,GP1BA | c.1206_1233delinsGGAGCCCACTCCAAGCCCGACCACCCCA (p.Leu402=) c.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC (n.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC) | |
17 | g.4933819_4933962del | CA2540613392 | CHRNE,GP1BA | c.1215_1358del (p.Pro406_Thr453del) c.-888+389_-888+532del (n.-888+389_-888+532del) c.1215_1280del | |
17 | g.4933811G>A | CA397320480 | CHRNE,GP1BA | c.1207G>A (p.Glu403Lys) c.-888+531C>T (n.-888+531C>T) | |
17 | g.4933811G>C | CA397320481 | CHRNE,GP1BA | c.1207G>C (p.Glu403Gln) c.-888+531C>G (n.-888+531C>G) | |
17 | g.4933811G>T | CA397320482 | CHRNE,GP1BA | c.1207G>T (p.Glu403Ter) c.-888+531C>A (n.-888+531C>A) | |
17 | g.4933819_4933845del | CA919780173 | CHRNE,GP1BA | c.1215_1241del (p.Pro406_Thr414del) c.-888+505_-888+531del (n.-888+505_-888+531del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933817_4933855del | CA2635579019 | CHRNE,GP1BA | c.1213_1251del (p.Thr405_Pro417del) c.-888+493_-888+531del (n.-888+493_-888+531del) | gnomAD v4 |
17 | g.4933812A>C | CA397320484 | CHRNE,GP1BA | c.1208A>C (p.Glu403Ala) c.-888+530T>G (n.-888+530T>G) | |
17 | g.4933812A>G | CA397320485 | CHRNE,GP1BA | c.1208A>G (p.Glu403Gly) c.-888+530T>C (n.-888+530T>C) | |
17 | g.4933812A>T | CA397320486 | CHRNE,GP1BA | c.1208A>T (p.Glu403Val) c.-888+530T>A (n.-888+530T>A) | |
17 | g.4933813G>A | CA497677762 | CHRNE,GP1BA | c.1209G>A (p.Glu403=) c.-888+529C>T (n.-888+529C>T) | |
17 | g.4933813G>C | CA397320488 | CHRNE,GP1BA | c.1209G>C (p.Glu403Asp) c.-888+529C>G (n.-888+529C>G) | |
17 | g.4933813G>T | CA397320489 | CHRNE,GP1BA | c.1209G>T (p.Glu403Asp) c.-888+529C>A (n.-888+529C>A) | |
17 | g.4933814C>A | CA397320490 | CHRNE,GP1BA | c.1210C>A (p.Pro404Thr) c.-888+528G>T (n.-888+528G>T) | gnomAD v4 |
17 | g.4933814C>G | CA397320491 | CHRNE,GP1BA | c.1210C>G (p.Pro404Ala) c.-888+528G>C (n.-888+528G>C) | |
17 | g.4933814C>T | CA397320492 | CHRNE,GP1BA | c.1210C>T (p.Pro404Ser) c.-888+528G>A (n.-888+528G>A) | |
17 | g.4933815C>A | CA397320493 | CHRNE,GP1BA | c.1211C>A (p.Pro404His) c.-888+527G>T (n.-888+527G>T) | |
17 | g.4933815C= | CA2244625733 | CHRNE,GP1BA | c.1211C= (p.Pro404=) c.-888+527G= (n.-888+527G=) | |
17 | g.4933815C>G | CA287217100 | CHRNE,GP1BA | c.1211C>G (p.Pro404Arg) c.-888+527G>C (n.-888+527G>C) | dbSNP |
17 | g.4933815C>T | CA397320494 | CHRNE,GP1BA | c.1211C>T (p.Pro404Leu) c.-888+527G>A (n.-888+527G>A) | |
17 | g.4933819_4933833del | CA980971859 | CHRNE,GP1BA | c.1215_1229del (p.Pro406_Thr410del) c.-888+513_-888+527del (n.-888+513_-888+527del) | gnomAD v3 gnomAD v4 |
17 | g.4933816C>A | CA497677766 | CHRNE,GP1BA | c.1212C>A (p.Pro404=) c.-888+526G>T (n.-888+526G>T) | |
17 | g.4933816C>G | CA497677767 | CHRNE,GP1BA | c.1212C>G (p.Pro404=) c.-888+526G>C (n.-888+526G>C) | |
17 | g.4933816C>T | CA497677768 | CHRNE,GP1BA | c.1212C>T (p.Pro404=) c.-888+526G>A (n.-888+526G>A) | |
17 | g.4933817A= | CA2244625734 | CHRNE,GP1BA | c.1213A= (p.Thr405=) c.-888+525T= (n.-888+525T=) | |
17 | g.4933817A>C | CA397320495 | CHRNE,GP1BA | c.1213A>C (p.Thr405Pro) c.-888+525T>G (n.-888+525T>G) | |
17 | g.4933817A>G | CA397320496 | CHRNE,GP1BA | c.1213A>G (p.Thr405Ala) c.-888+525T>C (n.-888+525T>C) | |
17 | g.4933817A>T | CA287217104 | CHRNE,GP1BA | c.1213A>T (p.Thr405Ser) c.-888+525T>A (n.-888+525T>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933818C>A | CA397320497 | CHRNE,GP1BA | c.1214C>A (p.Thr405Asn) c.-888+524G>T (n.-888+524G>T) | |
17 | g.4933818C>G | CA397320500 | CHRNE,GP1BA | c.1214C>G (p.Thr405Ser) c.-888+524G>C (n.-888+524G>C) | ClinVar |
17 | g.4933818C>T | CA397320501 | CHRNE,GP1BA | c.1214C>T (p.Thr405Ile) c.-888+524G>A (n.-888+524G>A) | |
17 | g.4933819T>A | CA497677772 | CHRNE,GP1BA | c.1215T>A (p.Thr405=) c.-888+523A>T (n.-888+523A>T) | |
17 | g.4933819T>C | CA497677774 | CHRNE,GP1BA | c.1215T>C (p.Thr405=) c.-888+523A>G (n.-888+523A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933819T>G | CA497677773 | CHRNE,GP1BA | c.1215T>G (p.Thr405=) c.-888+523A>C (n.-888+523A>C) | |
17 | g.4933819T= | CA2244625735 | CHRNE,GP1BA | c.1215T= (p.Thr405=) c.-888+523A= (n.-888+523A=) | |
17 | g.4933819_4933963delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC | CA2244625736 | CHRNE,GP1BA | c.1215_1359delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC (p.Thr405=) c.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA (n.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA) c.1215_1281delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC | |
17 | g.4933820C>A | CA397320508 | CHRNE,GP1BA | c.1216C>A (p.Pro406Thr) c.-888+522G>T (n.-888+522G>T) | |
17 | g.4933820C>G | CA397320506 | CHRNE,GP1BA | c.1216C>G (p.Pro406Ala) c.-888+522G>C (n.-888+522G>C) | |
17 | g.4933820C>T | CA397320503 | CHRNE,GP1BA | c.1216C>T (p.Pro406Ser) c.-888+522G>A (n.-888+522G>A) | |
17 | g.4933822_4933899del | CA2635579021 | CHRNE,GP1BA | c.1218_1295del (p.Ser407_Pro432del) c.-888+445_-888+522del (n.-888+445_-888+522del) c.1218_1272+23del | gnomAD v4 |
17 | g.4933824_4933967del | CA980971864 | CHRNE,GP1BA | c.1220_1363del (p.Ser407_Pro454del) c.-888+379_-888+522del (n.-888+379_-888+522del) c.1220_1285del | dbSNP gnomAD v3 gnomAD v4 |