Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.4933351T>A | CA497677438 | CHRNE,GP1BA | c.747T>A (p.Gly249=) c.-888+991A>T (n.-888+991A>T) | |
17 | g.4933351T>C | CA497677442 | CHRNE,GP1BA | c.747T>C (p.Gly249=) c.-888+991A>G (n.-888+991A>G) | |
17 | g.4933351T>G | CA497677441 | CHRNE,GP1BA | c.747T>G (p.Gly249=) c.-888+991A>C (n.-888+991A>C) | dbSNP |
17 | g.4933351T= | CA2244625518 | CHRNE,GP1BA | c.747T= (p.Gly249=) c.-888+991A= (n.-888+991A=) | |
17 | g.4933352G>A | CA287216455 | CHRNE,GP1BA | c.748G>A (p.Val250Met) c.-888+990C>T (n.-888+990C>T) | dbSNP |
17 | g.4933352G>C | CA397318418 | CHRNE,GP1BA | c.748G>C (p.Val250Leu) c.-888+990C>G (n.-888+990C>G) | COSMIC |
17 | g.4933352G= | CA2244625519 | CHRNE,GP1BA | c.748G= (p.Val250=) c.-888+990C= (n.-888+990C=) | |
17 | g.4933352G>T | CA397318420 | CHRNE,GP1BA | c.748G>T (p.Val250Leu) c.-888+990C>A (n.-888+990C>A) | |
17 | g.4933353T>A | CA397318423 | CHRNE,GP1BA | c.749T>A (p.Val250Glu) c.-888+989A>T (n.-888+989A>T) | |
17 | g.4933353T>C | CA397318425 | CHRNE,GP1BA | c.749T>C (p.Val250Ala) c.-888+989A>G (n.-888+989A>G) | |
17 | g.4933353T>G | CA397318428 | CHRNE,GP1BA | c.749T>G (p.Val250Gly) c.-888+989A>C (n.-888+989A>C) | |
17 | g.4933354G>A | CA497677446 | CHRNE,GP1BA | c.750G>A (p.Val250=) c.-888+988C>T (n.-888+988C>T) | dbSNP |
17 | g.4933354G>C | CA497677447 | CHRNE,GP1BA | c.750G>C (p.Val250=) c.-888+988C>G (n.-888+988C>G) | |
17 | g.4933354G= | CA2244625520 | CHRNE,GP1BA | c.750G= (p.Val250=) c.-888+988C= (n.-888+988C=) | |
17 | g.4933354G>T | CA497677448 | CHRNE,GP1BA | c.750G>T (p.Val250=) c.-888+988C>A (n.-888+988C>A) | |
17 | g.4933355G>A | CA397318432 | CHRNE,GP1BA | c.751G>A (p.Asp251Asn) c.-888+987C>T (n.-888+987C>T) | |
17 | g.4933355G>C | CA397318438 | CHRNE,GP1BA | c.751G>C (p.Asp251His) c.-888+987C>G (n.-888+987C>G) | |
17 | g.4933355G>T | CA397318430 | CHRNE,GP1BA | c.751G>T (p.Asp251Tyr) c.-888+987C>A (n.-888+987C>A) | |
17 | g.4933356A>C | CA397318441 | CHRNE,GP1BA | c.752A>C (p.Asp251Ala) c.-888+986T>G (n.-888+986T>G) | |
17 | g.4933356A>G | CA397318443 | CHRNE,GP1BA | c.752A>G (p.Asp251Gly) c.-888+986T>C (n.-888+986T>C) | |
17 | g.4933356A>T | CA397318445 | CHRNE,GP1BA | c.752A>T (p.Asp251Val) c.-888+986T>A (n.-888+986T>A) | |
17 | g.4933357C>A | CA397318448 | CHRNE,GP1BA | c.753C>A (p.Asp251Glu) c.-888+985G>T (n.-888+985G>T) | dbSNP |
17 | g.4933357C= | CA2244625521 | CHRNE,GP1BA | c.753C= (p.Asp251=) c.-888+985G= (n.-888+985G=) | |
17 | g.4933357C>G | CA397318451 | CHRNE,GP1BA | c.753C>G (p.Asp251Glu) c.-888+985G>C (n.-888+985G>C) | |
17 | g.4933357C>T | CA8314824 | CHRNE,GP1BA | c.753C>T (p.Asp251=) c.-888+985G>A (n.-888+985G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933358G>A | CA287216484 | CHRNE,GP1BA | c.754G>A (p.Val252Ile) c.-888+984C>T (n.-888+984C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933358G>C | CA397318460 | CHRNE,GP1BA | c.754G>C (p.Val252Leu) c.-888+984C>G (n.-888+984C>G) | |
17 | g.4933358G= | CA2244625522 | CHRNE,GP1BA | c.754G= (p.Val252=) c.-888+984C= (n.-888+984C=) | |
17 | g.4933358G>T | CA397318458 | CHRNE,GP1BA | c.754G>T (p.Val252Phe) c.-888+984C>A (n.-888+984C>A) | gnomAD v4 |
17 | g.4933359T>A | CA397318463 | CHRNE,GP1BA | c.755T>A (p.Val252Asp) c.-888+983A>T (n.-888+983A>T) | |
17 | g.4933359T>C | CA397318466 | CHRNE,GP1BA | c.755T>C (p.Val252Ala) c.-888+983A>G (n.-888+983A>G) | gnomAD v4 |
17 | g.4933359T>G | CA397318468 | CHRNE,GP1BA | c.755T>G (p.Val252Gly) c.-888+983A>C (n.-888+983A>C) | dbSNP |
17 | g.4933359T= | CA2244625523 | CHRNE,GP1BA | c.755T= (p.Val252=) c.-888+983A= (n.-888+983A=) | |
17 | g.4933360C>A | CA497677457 | CHRNE,GP1BA | c.756C>A (p.Val252=) c.-888+982G>T (n.-888+982G>T) | |
17 | g.4933360C= | CA2244625524 | CHRNE,GP1BA | c.756C= (p.Val252=) c.-888+982G= (n.-888+982G=) | |
17 | g.4933360C>G | CA497677458 | CHRNE,GP1BA | c.756C>G (p.Val252=) c.-888+982G>C (n.-888+982G>C) | |
17 | g.4933360C>T | CA8314825 | CHRNE,GP1BA | c.756C>T (p.Val252=) c.-888+982G>A (n.-888+982G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933361A>C | CA397318476 | CHRNE,GP1BA | c.757A>C (p.Lys253Gln) c.-888+981T>G (n.-888+981T>G) | |
17 | g.4933361A>G | CA397318474 | CHRNE,GP1BA | c.757A>G (p.Lys253Glu) c.-888+981T>C (n.-888+981T>C) | |
17 | g.4933361A>T | CA397318471 | CHRNE,GP1BA | c.757A>T (p.Lys253Ter) c.-888+981T>A (n.-888+981T>A) | |
17 | g.4933362A>C | CA397318479 | CHRNE,GP1BA | c.758A>C (p.Lys253Thr) c.-888+980T>G (n.-888+980T>G) | |
17 | g.4933362A>G | CA397318482 | CHRNE,GP1BA | c.758A>G (p.Lys253Arg) c.-888+980T>C (n.-888+980T>C) | |
17 | g.4933362A>T | CA397318484 | CHRNE,GP1BA | c.758A>T (p.Lys253Met) c.-888+980T>A (n.-888+980T>A) | |
17 | g.4933363G>A | CA497677465 | CHRNE,GP1BA | c.759G>A (p.Lys253=) c.-888+979C>T (n.-888+979C>T) | |
17 | g.4933363G>C | CA397318488 | CHRNE,GP1BA | c.759G>C (p.Lys253Asn) c.-888+979C>G (n.-888+979C>G) | |
17 | g.4933363G>T | CA397318489 | CHRNE,GP1BA | c.759G>T (p.Lys253Asn) c.-888+979C>A (n.-888+979C>A) | |
17 | g.4933364G>A | CA397318492 | CHRNE,GP1BA | c.760G>A (p.Ala254Thr) c.-888+978C>T (n.-888+978C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933364G>C | CA397318495 | CHRNE,GP1BA | c.760G>C (p.Ala254Pro) c.-888+978C>G (n.-888+978C>G) | |
17 | g.4933364G= | CA2244625525 | CHRNE,GP1BA | c.760G= (p.Ala254=) c.-888+978C= (n.-888+978C=) | |
17 | g.4933364G>T | CA287216497 | CHRNE,GP1BA | c.760G>T (p.Ala254Ser) c.-888+978C>A (n.-888+978C>A) | dbSNP |
17 | g.4933365C>A | CA397318501 | CHRNE,GP1BA | c.761C>A (p.Ala254Asp) c.-888+977G>T (n.-888+977G>T) | |
17 | g.4933365C>G | CA397318505 | CHRNE,GP1BA | c.761C>G (p.Ala254Gly) c.-888+977G>C (n.-888+977G>C) | |
17 | g.4933365C>T | CA397318504 | CHRNE,GP1BA | c.761C>T (p.Ala254Val) c.-888+977G>A (n.-888+977G>A) | |
17 | g.4933366C>A | CA497677467 | CHRNE,GP1BA | c.762C>A (p.Ala254=) c.-888+976G>T (n.-888+976G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933366C= | CA2244625526 | CHRNE,GP1BA | c.762C= (p.Ala254=) c.-888+976G= (n.-888+976G=) | |
17 | g.4933366C>G | CA497677469 | CHRNE,GP1BA | c.762C>G (p.Ala254=) c.-888+976G>C (n.-888+976G>C) | |
17 | g.4933366C>T | CA8314826 | CHRNE,GP1BA | c.762C>T (p.Ala254=) c.-888+976G>A (n.-888+976G>A) | dbSNP ExAC gnomAD v4 |
17 | g.4933367A= | CA2244625527 | CHRNE,GP1BA | c.763A= (p.Met255=) c.-888+975T= (n.-888+975T=) | |
17 | g.4933367A>C | CA397318509 | CHRNE,GP1BA | c.763A>C (p.Met255Leu) c.-888+975T>G (n.-888+975T>G) | |
17 | g.4933367A>G | CA116661 | CHRNE,GP1BA | c.763A>G (p.Met255Val) c.-888+975T>C (n.-888+975T>C) | ClinVar dbSNP |
17 | g.4933367A>T | CA397318512 | CHRNE,GP1BA | c.763A>T (p.Met255Leu) c.-888+975T>A (n.-888+975T>A) | |
17 | g.4933368T>A | CA397318515 | CHRNE,GP1BA | c.764T>A (p.Met255Lys) c.-888+974A>T (n.-888+974A>T) | |
17 | g.4933368T>C | CA397318520 | CHRNE,GP1BA | c.764T>C (p.Met255Thr) c.-888+974A>G (n.-888+974A>G) | gnomAD v4 |
17 | g.4933368T>G | CA397318518 | CHRNE,GP1BA | c.764T>G (p.Met255Arg) c.-888+974A>C (n.-888+974A>C) | |
17 | g.4933369G>A | CA397318522 | CHRNE,GP1BA | c.765G>A (p.Met255Ile) c.-888+973C>T (n.-888+973C>T) | gnomAD v4 |
17 | g.4933369G>C | CA397318525 | CHRNE,GP1BA | c.765G>C (p.Met255Ile) c.-888+973C>G (n.-888+973C>G) | |
17 | g.4933369G>T | CA397318528 | CHRNE,GP1BA | c.765G>T (p.Met255Ile) c.-888+973C>A (n.-888+973C>A) | |
17 | g.4933370A= | CA2244625528 | CHRNE,GP1BA | c.766A= (p.Thr256=) c.-888+972T= (n.-888+972T=) | |
17 | g.4933370A>C | CA397318531 | CHRNE,GP1BA | c.766A>C (p.Thr256Pro) c.-888+972T>G (n.-888+972T>G) | dbSNP |
17 | g.4933370A>G | CA397318532 | CHRNE,GP1BA | c.766A>G (p.Thr256Ala) c.-888+972T>C (n.-888+972T>C) | |
17 | g.4933370A>T | CA397318534 | CHRNE,GP1BA | c.766A>T (p.Thr256Ser) c.-888+972T>A (n.-888+972T>A) | |
17 | g.4933371C>A | CA397318536 | CHRNE,GP1BA | c.767C>A (p.Thr256Asn) c.-888+971G>T (n.-888+971G>T) | dbSNP |
17 | g.4933371C= | CA2244625529 | CHRNE,GP1BA | c.767C= (p.Thr256=) c.-888+971G= (n.-888+971G=) | |
17 | g.4933371C>G | CA397318539 | CHRNE,GP1BA | c.767C>G (p.Thr256Ser) c.-888+971G>C (n.-888+971G>C) | |
17 | g.4933371C>T | CA397318542 | CHRNE,GP1BA | c.767C>T (p.Thr256Ile) c.-888+971G>A (n.-888+971G>A) | gnomAD v4 |
17 | g.4933372C>A | CA497677473 | CHRNE,GP1BA | c.768C>A (p.Thr256=) c.-888+970G>T (n.-888+970G>T) | |
17 | g.4933372C>G | CA497677474 | CHRNE,GP1BA | c.768C>G (p.Thr256=) c.-888+970G>C (n.-888+970G>C) | gnomAD v4 |
17 | g.4933372C>T | CA497677475 | CHRNE,GP1BA | c.768C>T (p.Thr256=) c.-888+970G>A (n.-888+970G>A) | dbSNP |
17 | g.4933373T>A | CA397318544 | CHRNE,GP1BA | c.769T>A (p.Ser257Thr) c.-888+969A>T (n.-888+969A>T) | |
17 | g.4933373T>C | CA397318545 | CHRNE,GP1BA | c.769T>C (p.Ser257Pro) c.-888+969A>G (n.-888+969A>G) | |
17 | g.4933373T>G | CA397318547 | CHRNE,GP1BA | c.769T>G (p.Ser257Ala) c.-888+969A>C (n.-888+969A>C) | |
17 | g.4933374C>A | CA397318553 | CHRNE,GP1BA | c.770C>A (p.Ser257Tyr) c.-888+968G>T (n.-888+968G>T) | |
17 | g.4933374C>G | CA397318550 | CHRNE,GP1BA | c.770C>G (p.Ser257Cys) c.-888+968G>C (n.-888+968G>C) | |
17 | g.4933374C>T | CA397318549 | CHRNE,GP1BA | c.770C>T (p.Ser257Phe) c.-888+968G>A (n.-888+968G>A) | COSMIC |
17 | g.4933375T>A | CA497677477 | CHRNE,GP1BA | c.771T>A (p.Ser257=) c.-888+967A>T (n.-888+967A>T) | dbSNP |
17 | g.4933375T>C | CA497677478 | CHRNE,GP1BA | c.771T>C (p.Ser257=) c.-888+967A>G (n.-888+967A>G) | |
17 | g.4933375T>G | CA497677479 | CHRNE,GP1BA | c.771T>G (p.Ser257=) c.-888+967A>C (n.-888+967A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933375T= | CA2244625530 | CHRNE,GP1BA | c.771T= (p.Ser257=) c.-888+967A= (n.-888+967A=) | |
17 | g.4933376A>C | CA397318554 | CHRNE,GP1BA | c.772A>C (p.Asn258His) c.-888+966T>G (n.-888+966T>G) | |
17 | g.4933376A>G | CA397318558 | CHRNE,GP1BA | c.772A>G (p.Asn258Asp) c.-888+966T>C (n.-888+966T>C) | |
17 | g.4933376A>T | CA397318556 | CHRNE,GP1BA | c.772A>T (p.Asn258Tyr) c.-888+966T>A (n.-888+966T>A) | |
17 | g.4933377A>C | CA397318561 | CHRNE,GP1BA | c.773A>C (p.Asn258Thr) c.-888+965T>G (n.-888+965T>G) | |
17 | g.4933377A>G | CA397318565 | CHRNE,GP1BA | c.773A>G (p.Asn258Ser) c.-888+965T>C (n.-888+965T>C) | |
17 | g.4933377A>T | CA397318562 | CHRNE,GP1BA | c.773A>T (p.Asn258Ile) c.-888+965T>A (n.-888+965T>A) | |
17 | g.4933378C>A | CA397318566 | CHRNE,GP1BA | c.774C>A (p.Asn258Lys) c.-888+964G>T (n.-888+964G>T) | |
17 | g.4933378C= | CA2244625531 | CHRNE,GP1BA | c.774C= (p.Asn258=) c.-888+964G= (n.-888+964G=) | |
17 | g.4933378C>G | CA397318570 | CHRNE,GP1BA | c.774C>G (p.Asn258Lys) c.-888+964G>C (n.-888+964G>C) | |
17 | g.4933378C>T | CA8314827 | CHRNE,GP1BA | c.774C>T (p.Asn258=) c.-888+964G>A (n.-888+964G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933379G>A | CA8314828 | CHRNE,GP1BA | c.775G>A (p.Val259Met) c.-888+963C>T (n.-888+963C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933379G>C | CA8314829 | CHRNE,GP1BA | c.775G>C (p.Val259Leu) c.-888+963C>G (n.-888+963C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933379G= | CA2244625532 | CHRNE,GP1BA | c.775G= (p.Val259=) c.-888+963C= (n.-888+963C=) | |
17 | g.4933379G>T | CA397318574 | CHRNE,GP1BA | c.775G>T (p.Val259Leu) c.-888+963C>A (n.-888+963C>A) | |
17 | g.4933380T>A | CA397318580 | CHRNE,GP1BA | c.776T>A (p.Val259Glu) c.-888+962A>T (n.-888+962A>T) | |
17 | g.4933380T>C | CA397318582 | CHRNE,GP1BA | c.776T>C (p.Val259Ala) c.-888+962A>G (n.-888+962A>G) | |
17 | g.4933380T>G | CA397318585 | CHRNE,GP1BA | c.776T>G (p.Val259Gly) c.-888+962A>C (n.-888+962A>C) | |
17 | g.4933380T= | CA2244625533 | CHRNE,GP1BA | c.776T= (p.Val259=) c.-888+962A= (n.-888+962A=) | |
17 | g.4933381G>A | CA287216544 | CHRNE,GP1BA | c.777G>A (p.Val259=) c.-888+961C>T (n.-888+961C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933381G>C | CA497677488 | CHRNE,GP1BA | c.777G>C (p.Val259=) c.-888+961C>G (n.-888+961C>G) | |
17 | g.4933381G= | CA2244625534 | CHRNE,GP1BA | c.777G= (p.Val259=) c.-888+961C= (n.-888+961C=) | |
17 | g.4933381G>T | CA497677489 | CHRNE,GP1BA | c.777G>T (p.Val259=) c.-888+961C>A (n.-888+961C>A) | |
17 | g.4933382dup | CA287216529 | CHRNE,GP1BA | c.778dup (p.Ala260GlyfsTer6) c.-888+961dup (n.-888+961dup) | dbSNP |
17 | g.4933382G>A | CA397318591 | CHRNE,GP1BA | c.778G>A (p.Ala260Thr) c.-888+960C>T (n.-888+960C>T) | COSMIC |
17 | g.4933382G>C | CA397318593 | CHRNE,GP1BA | c.778G>C (p.Ala260Pro) c.-888+960C>G (n.-888+960C>G) | |
17 | g.4933382G>T | CA397318596 | CHRNE,GP1BA | c.778G>T (p.Ala260Ser) c.-888+960C>A (n.-888+960C>A) | |
17 | g.4933383C>A | CA397318598 | CHRNE,GP1BA | c.779C>A (p.Ala260Asp) c.-888+959G>T (n.-888+959G>T) | gnomAD v4 |
17 | g.4933383C>G | CA397318600 | CHRNE,GP1BA | c.779C>G (p.Ala260Gly) c.-888+959G>C (n.-888+959G>C) | |
17 | g.4933383C>T | CA397318601 | CHRNE,GP1BA | c.779C>T (p.Ala260Val) c.-888+959G>A (n.-888+959G>A) | |
17 | g.4933384C>A | CA497677492 | CHRNE,GP1BA | c.780C>A (p.Ala260=) c.-888+958G>T (n.-888+958G>T) | |
17 | g.4933384C>G | CA497677494 | CHRNE,GP1BA | c.780C>G (p.Ala260=) c.-888+958G>C (n.-888+958G>C) | |
17 | g.4933384C>T | CA497677495 | CHRNE,GP1BA | c.780C>T (p.Ala260=) c.-888+958G>A (n.-888+958G>A) | |
17 | g.4933385A>C | CA397318605 | CHRNE,GP1BA | c.781A>C (p.Ser261Arg) c.-888+957T>G (n.-888+957T>G) | |
17 | g.4933385A>G | CA397318604 | CHRNE,GP1BA | c.781A>G (p.Ser261Gly) c.-888+957T>C (n.-888+957T>C) | |
17 | g.4933385A>T | CA397318603 | CHRNE,GP1BA | c.781A>T (p.Ser261Cys) c.-888+957T>A (n.-888+957T>A) | |
17 | g.4933386G>A | CA397318606 | CHRNE,GP1BA | c.782G>A (p.Ser261Asn) c.-888+956C>T (n.-888+956C>T) | |
17 | g.4933386G>C | CA397318607 | CHRNE,GP1BA | c.782G>C (p.Ser261Thr) c.-888+956C>G (n.-888+956C>G) | |
17 | g.4933386G>T | CA397318608 | CHRNE,GP1BA | c.782G>T (p.Ser261Ile) c.-888+956C>A (n.-888+956C>A) | |
17 | g.4933387T>A | CA397318610 | CHRNE,GP1BA | c.783T>A (p.Ser261Arg) c.-888+955A>T (n.-888+955A>T) | gnomAD v4 |
17 | g.4933387T>C | CA497677497 | CHRNE,GP1BA | c.783T>C (p.Ser261=) c.-888+955A>G (n.-888+955A>G) | dbSNP gnomAD v4 |
17 | g.4933387T>G | CA397318611 | CHRNE,GP1BA | c.783T>G (p.Ser261Arg) c.-888+955A>C (n.-888+955A>C) | |
17 | g.4933387T= | CA2244625535 | CHRNE,GP1BA | c.783T= (p.Ser261=) c.-888+955A= (n.-888+955A=) |