Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4933110T>A | CA397316973 | CHRNE,GP1BA | c.506T>A (p.Leu169His) c.-888+1232A>T (n.-888+1232A>T) | |
17 | g.4933110T>C | CA397316975 | CHRNE,GP1BA | c.506T>C (p.Leu169Pro) c.-888+1232A>G (n.-888+1232A>G) | |
17 | g.4933110T>G | CA397316976 | CHRNE,GP1BA | c.506T>G (p.Leu169Arg) c.-888+1232A>C (n.-888+1232A>C) | |
17 | g.4933111C>A | CA497677507 | CHRNE,GP1BA | c.507C>A (p.Leu169=) c.-888+1231G>T (n.-888+1231G>T) | |
17 | g.4933111C>G | CA497677503 | CHRNE,GP1BA | c.507C>G (p.Leu169=) c.-888+1231G>C (n.-888+1231G>C) | gnomAD v4 |
17 | g.4933111C>T | CA497677506 | CHRNE,GP1BA | c.507C>T (p.Leu169=) c.-888+1231G>A (n.-888+1231G>A) | |
17 | g.4933112A= | CA2244625441 | CHRNE,GP1BA | c.508A= (p.Ser170=) c.-888+1230T= (n.-888+1230T=) | |
17 | g.4933112A>C | CA397316980 | CHRNE,GP1BA | c.508A>C (p.Ser170Arg) c.-888+1230T>G (n.-888+1230T>G) | |
17 | g.4933112A>G | CA397316992 | CHRNE,GP1BA | c.508A>G (p.Ser170Gly) c.-888+1230T>C (n.-888+1230T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933112A>T | CA397316999 | CHRNE,GP1BA | c.508A>T (p.Ser170Cys) c.-888+1230T>A (n.-888+1230T>A) | |
17 | g.4933112_4933116delinsAGTCT | CA2244625440 | CHRNE,GP1BA | c.508_512delinsAGTCT (p.Ser170=) c.-888+1226_-888+1230delinsAGACT (n.-888+1226_-888+1230delinsAGACT) | |
17 | g.4933113G>A | CA397317002 | CHRNE,GP1BA | c.509G>A (p.Ser170Asn) c.-888+1229C>T (n.-888+1229C>T) | |
17 | g.4933113G>C | CA397317005 | CHRNE,GP1BA | c.509G>C (p.Ser170Thr) c.-888+1229C>G (n.-888+1229C>G) | |
17 | g.4933113G>T | CA397317008 | CHRNE,GP1BA | c.509G>T (p.Ser170Ile) c.-888+1229C>A (n.-888+1229C>A) | |
17 | g.4933114_4933117del | CA624856164 | CHRNE,GP1BA | c.510_513del (p.Ser170ArgfsTer6) c.-888+1226_-888+1229del (n.-888+1226_-888+1229del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933114T>A | CA397317011 | CHRNE,GP1BA | c.510T>A (p.Ser170Arg) c.-888+1228A>T (n.-888+1228A>T) | |
17 | g.4933114T>C | CA497677512 | CHRNE,GP1BA | c.510T>C (p.Ser170=) c.-888+1228A>G (n.-888+1228A>G) | gnomAD v4 |
17 | g.4933114T>G | CA397317013 | CHRNE,GP1BA | c.510T>G (p.Ser170Arg) c.-888+1228A>C (n.-888+1228A>C) | |
17 | g.4933115C>A | CA397317014 | CHRNE,GP1BA | c.511C>A (p.Leu171Met) c.-888+1227G>T (n.-888+1227G>T) | |
17 | g.4933115C>G | CA397317015 | CHRNE,GP1BA | c.511C>G (p.Leu171Val) c.-888+1227G>C (n.-888+1227G>C) | |
17 | g.4933115C>T | CA497677513 | CHRNE,GP1BA | c.511C>T (p.Leu171=) c.-888+1227G>A (n.-888+1227G>A) | |
17 | g.4933116T>A | CA397317016 | CHRNE,GP1BA | c.512T>A (p.Leu171Gln) c.-888+1226A>T (n.-888+1226A>T) | |
17 | g.4933116T>C | CA397317018 | CHRNE,GP1BA | c.512T>C (p.Leu171Pro) c.-888+1226A>G (n.-888+1226A>G) | gnomAD v4 |
17 | g.4933116T>G | CA397317022 | CHRNE,GP1BA | c.512T>G (p.Leu171Arg) c.-888+1226A>C (n.-888+1226A>C) | |
17 | g.4933117G>A | CA497677520 | CHRNE,GP1BA | c.513G>A (p.Leu171=) c.-888+1225C>T (n.-888+1225C>T) | |
17 | g.4933117G>C | CA497677517 | CHRNE,GP1BA | c.513G>C (p.Leu171=) c.-888+1225C>G (n.-888+1225C>G) | |
17 | g.4933117G>T | CA497677519 | CHRNE,GP1BA | c.513G>T (p.Leu171=) c.-888+1225C>A (n.-888+1225C>A) | |
17 | g.4933118G>A | CA397317026 | CHRNE,GP1BA | c.514G>A (p.Ala172Thr) c.-888+1224C>T (n.-888+1224C>T) | |
17 | g.4933118G>C | CA397317028 | CHRNE,GP1BA | c.514G>C (p.Ala172Pro) c.-888+1224C>G (n.-888+1224C>G) | |
17 | g.4933118G>T | CA397317030 | CHRNE,GP1BA | c.514G>T (p.Ala172Ser) c.-888+1224C>A (n.-888+1224C>A) | |
17 | g.4933119C>A | CA397317035 | CHRNE,GP1BA | c.515C>A (p.Ala172Asp) c.-888+1223G>T (n.-888+1223G>T) | |
17 | g.4933119C= | CA2244625442 | CHRNE,GP1BA | c.515C= (p.Ala172=) c.-888+1223G= (n.-888+1223G=) | |
17 | g.4933119C>G | CA397317038 | CHRNE,GP1BA | c.515C>G (p.Ala172Gly) c.-888+1223G>C (n.-888+1223G>C) | |
17 | g.4933119C>T | CA116662 | CHRNE,GP1BA | c.515C>T (p.Ala172Val) c.-888+1223G>A (n.-888+1223G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.4933120T>A | CA497677528 | CHRNE,GP1BA | c.516T>A (p.Ala172=) c.-888+1222A>T (n.-888+1222A>T) | |
17 | g.4933120T>C | CA497677530 | CHRNE,GP1BA | c.516T>C (p.Ala172=) c.-888+1222A>G (n.-888+1222A>G) | |
17 | g.4933120T>G | CA497677532 | CHRNE,GP1BA | c.516T>G (p.Ala172=) c.-888+1222A>C (n.-888+1222A>C) | |
17 | g.4933120_4933123delinsTAAC | CA2244625443 | CHRNE,GP1BA | c.516_519delinsTAAC (p.Ala172=) c.-888+1219_-888+1222delinsGTTA (n.-888+1219_-888+1222delinsGTTA) | |
17 | g.4933121A>C | CA397317049 | CHRNE,GP1BA | c.517A>C (p.Asn173His) c.-888+1221T>G (n.-888+1221T>G) | gnomAD v4 |
17 | g.4933121A>G | CA397317051 | CHRNE,GP1BA | c.517A>G (p.Asn173Asp) c.-888+1221T>C (n.-888+1221T>C) | |
17 | g.4933121A>T | CA397317055 | CHRNE,GP1BA | c.517A>T (p.Asn173Tyr) c.-888+1221T>A (n.-888+1221T>A) | |
17 | g.4933127_4933129del | CA980971588 | CHRNE,GP1BA | c.523_525del (p.Asn175del) c.-888+1219_-888+1221del (n.-888+1219_-888+1221del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933122A>C | CA397317059 | CHRNE,GP1BA | c.518A>C (p.Asn173Thr) c.-888+1220T>G (n.-888+1220T>G) | |
17 | g.4933122A>G | CA397317064 | CHRNE,GP1BA | c.518A>G (p.Asn173Ser) c.-888+1220T>C (n.-888+1220T>C) | gnomAD v4 |
17 | g.4933122A>T | CA397317061 | CHRNE,GP1BA | c.518A>T (p.Asn173Ile) c.-888+1220T>A (n.-888+1220T>A) | |
17 | g.4933123C>A | CA397317068 | CHRNE,GP1BA | c.519C>A (p.Asn173Lys) c.-888+1219G>T (n.-888+1219G>T) | |
17 | g.4933123C>G | CA397317069 | CHRNE,GP1BA | c.519C>G (p.Asn173Lys) c.-888+1219G>C (n.-888+1219G>C) | |
17 | g.4933123C>T | CA497677538 | CHRNE,GP1BA | c.519C>T (p.Asn173=) c.-888+1219G>A (n.-888+1219G>A) | |
17 | g.4933124A>C | CA397317070 | CHRNE,GP1BA | c.520A>C (p.Asn174His) c.-888+1218T>G (n.-888+1218T>G) | |
17 | g.4933124A>G | CA397317071 | CHRNE,GP1BA | c.520A>G (p.Asn174Asp) c.-888+1218T>C (n.-888+1218T>C) | ClinVar |
17 | g.4933124A>T | CA397317072 | CHRNE,GP1BA | c.520A>T (p.Asn174Tyr) c.-888+1218T>A (n.-888+1218T>A) | |
17 | g.4933125A= | CA2244625444 | CHRNE,GP1BA | c.521A= (p.Asn174=) c.-888+1217T= (n.-888+1217T=) | |
17 | g.4933125A>C | CA397317073 | CHRNE,GP1BA | c.521A>C (p.Asn174Thr) c.-888+1217T>G (n.-888+1217T>G) | |
17 | g.4933125A>G | CA397317074 | CHRNE,GP1BA | c.521A>G (p.Asn174Ser) c.-888+1217T>C (n.-888+1217T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933125A>T | CA397317075 | CHRNE,GP1BA | c.521A>T (p.Asn174Ile) c.-888+1217T>A (n.-888+1217T>A) | |
17 | g.4933126C>A | CA397317077 | CHRNE,GP1BA | c.522C>A (p.Asn174Lys) c.-888+1216G>T (n.-888+1216G>T) | gnomAD v4 |
17 | g.4933126C>G | CA397317080 | CHRNE,GP1BA | c.522C>G (p.Asn174Lys) c.-888+1216G>C (n.-888+1216G>C) | |
17 | g.4933126C>T | CA497677544 | CHRNE,GP1BA | c.522C>T (p.Asn174=) c.-888+1216G>A (n.-888+1216G>A) | |
17 | g.4933127A>C | CA397317081 | CHRNE,GP1BA | c.523A>C (p.Asn175His) c.-888+1215T>G (n.-888+1215T>G) | |
17 | g.4933127A>G | CA397317083 | CHRNE,GP1BA | c.523A>G (p.Asn175Asp) c.-888+1215T>C (n.-888+1215T>C) | |
17 | g.4933127A>T | CA397317085 | CHRNE,GP1BA | c.523A>T (p.Asn175Tyr) c.-888+1215T>A (n.-888+1215T>A) | |
17 | g.4933128A>C | CA397317087 | CHRNE,GP1BA | c.524A>C (p.Asn175Thr) c.-888+1214T>G (n.-888+1214T>G) | |
17 | g.4933128A>G | CA397317089 | CHRNE,GP1BA | c.524A>G (p.Asn175Ser) c.-888+1214T>C (n.-888+1214T>C) | |
17 | g.4933128A>T | CA397317088 | CHRNE,GP1BA | c.524A>T (p.Asn175Ile) c.-888+1214T>A (n.-888+1214T>A) | |
17 | g.4933129C>A | CA397317090 | CHRNE,GP1BA | c.525C>A (p.Asn175Lys) c.-888+1213G>T (n.-888+1213G>T) | |
17 | g.4933129C= | CA2244625445 | CHRNE,GP1BA | c.525C= (p.Asn175=) c.-888+1213G= (n.-888+1213G=) | |
17 | g.4933129C>G | CA397317091 | CHRNE,GP1BA | c.525C>G (p.Asn175Lys) c.-888+1213G>C (n.-888+1213G>C) | |
17 | g.4933129C>T | CA287216219 | CHRNE,GP1BA | c.525C>T (p.Asn175=) c.-888+1213G>A (n.-888+1213G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933130T>A | CA397317095 | CHRNE,GP1BA | c.526T>A (p.Leu176Met) c.-888+1212A>T (n.-888+1212A>T) | |
17 | g.4933130T>C | CA497677554 | CHRNE,GP1BA | c.526T>C (p.Leu176=) c.-888+1212A>G (n.-888+1212A>G) | |
17 | g.4933130T>G | CA397317097 | CHRNE,GP1BA | c.526T>G (p.Leu176Val) c.-888+1212A>C (n.-888+1212A>C) | COSMIC |
17 | g.4933131T>A | CA397317101 | CHRNE,GP1BA | c.527T>A (p.Leu176Ter) c.-888+1211A>T (n.-888+1211A>T) | |
17 | g.4933131T>C | CA397317102 | CHRNE,GP1BA | c.527T>C (p.Leu176Ser) c.-888+1211A>G (n.-888+1211A>G) | |
17 | g.4933131T>G | CA397317103 | CHRNE,GP1BA | c.527T>G (p.Leu176Trp) c.-888+1211A>C (n.-888+1211A>C) | |
17 | g.4933132G>A | CA497677558 | CHRNE,GP1BA | c.528G>A (p.Leu176=) c.-888+1210C>T (n.-888+1210C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933132G>C | CA397317108 | CHRNE,GP1BA | c.528G>C (p.Leu176Phe) c.-888+1210C>G (n.-888+1210C>G) | |
17 | g.4933132G= | CA2244625446 | CHRNE,GP1BA | c.528G= (p.Leu176=) c.-888+1210C= (n.-888+1210C=) | |
17 | g.4933132G>T | CA397317112 | CHRNE,GP1BA | c.528G>T (p.Leu176Phe) c.-888+1210C>A (n.-888+1210C>A) | |
17 | g.4933133A>C | CA397317125 | CHRNE,GP1BA | c.529A>C (p.Thr177Pro) c.-888+1209T>G (n.-888+1209T>G) | |
17 | g.4933133A>G | CA397317128 | CHRNE,GP1BA | c.529A>G (p.Thr177Ala) c.-888+1209T>C (n.-888+1209T>C) | |
17 | g.4933133A>T | CA397317122 | CHRNE,GP1BA | c.529A>T (p.Thr177Ser) c.-888+1209T>A (n.-888+1209T>A) | |
17 | g.4933134C>A | CA397317138 | CHRNE,GP1BA | c.530C>A (p.Thr177Asn) c.-888+1208G>T (n.-888+1208G>T) | |
17 | g.4933134C= | CA2244625447 | CHRNE,GP1BA | c.530C= (p.Thr177=) c.-888+1208G= (n.-888+1208G=) | |
17 | g.4933134C>G | CA397317131 | CHRNE,GP1BA | c.530C>G (p.Thr177Ser) c.-888+1208G>C (n.-888+1208G>C) | |
17 | g.4933134C>T | CA397317134 | CHRNE,GP1BA | c.530C>T (p.Thr177Ile) c.-888+1208G>A (n.-888+1208G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933135T>A | CA497677563 | CHRNE,GP1BA | c.531T>A (p.Thr177=) c.-888+1207A>T (n.-888+1207A>T) | |
17 | g.4933135T>C | CA497677565 | CHRNE,GP1BA | c.531T>C (p.Thr177=) c.-888+1207A>G (n.-888+1207A>G) | |
17 | g.4933135T>G | CA497677566 | CHRNE,GP1BA | c.531T>G (p.Thr177=) c.-888+1207A>C (n.-888+1207A>C) | |
17 | g.4933136G>A | CA8314789 | CHRNE,GP1BA | c.532G>A (p.Glu178Lys) c.-888+1206C>T (n.-888+1206C>T) | dbSNP ExAC gnomAD v2 |
17 | g.4933136G>C | CA397317144 | CHRNE,GP1BA | c.532G>C (p.Glu178Gln) c.-888+1206C>G (n.-888+1206C>G) | |
17 | g.4933136G= | CA2244625448 | CHRNE,GP1BA | c.532G= (p.Glu178=) c.-888+1206C= (n.-888+1206C=) | |
17 | g.4933136G>T | CA397317148 | CHRNE,GP1BA | c.532G>T (p.Glu178Ter) c.-888+1206C>A (n.-888+1206C>A) | gnomAD v4 |
17 | g.4933137A>C | CA397317151 | CHRNE,GP1BA | c.533A>C (p.Glu178Ala) c.-888+1205T>G (n.-888+1205T>G) | |
17 | g.4933137A>G | CA397317152 | CHRNE,GP1BA | c.533A>G (p.Glu178Gly) c.-888+1205T>C (n.-888+1205T>C) | |
17 | g.4933137A>T | CA397317153 | CHRNE,GP1BA | c.533A>T (p.Glu178Val) c.-888+1205T>A (n.-888+1205T>A) | |
17 | g.4933138G>A | CA497677568 | CHRNE,GP1BA | c.534G>A (p.Glu178=) c.-888+1204C>T (n.-888+1204C>T) | |
17 | g.4933138G>C | CA397317154 | CHRNE,GP1BA | c.534G>C (p.Glu178Asp) c.-888+1204C>G (n.-888+1204C>G) | gnomAD v4 |
17 | g.4933138G>T | CA397317155 | CHRNE,GP1BA | c.534G>T (p.Glu178Asp) c.-888+1204C>A (n.-888+1204C>A) | |
17 | g.4933139C>A | CA397317157 | CHRNE,GP1BA | c.535C>A (p.Leu179Ile) c.-888+1203G>T (n.-888+1203G>T) | |
17 | g.4933139C>G | CA397317159 | CHRNE,GP1BA | c.535C>G (p.Leu179Val) c.-888+1203G>C (n.-888+1203G>C) | |
17 | g.4933139C>T | CA397317163 | CHRNE,GP1BA | c.535C>T (p.Leu179Phe) c.-888+1203G>A (n.-888+1203G>A) | |
17 | g.4933140T>A | CA397317173 | CHRNE,GP1BA | c.536T>A (p.Leu179His) c.-888+1202A>T (n.-888+1202A>T) | |
17 | g.4933140T>C | CA397317166 | CHRNE,GP1BA | c.536T>C (p.Leu179Pro) c.-888+1202A>G (n.-888+1202A>G) | |
17 | g.4933140T>G | CA397317171 | CHRNE,GP1BA | c.536T>G (p.Leu179Arg) c.-888+1202A>C (n.-888+1202A>C) | |
17 | g.4933141C>A | CA497677574 | CHRNE,GP1BA | c.537C>A (p.Leu179=) c.-888+1201G>T (n.-888+1201G>T) | |
17 | g.4933141C>G | CA497677575 | CHRNE,GP1BA | c.537C>G (p.Leu179=) c.-888+1201G>C (n.-888+1201G>C) | |
17 | g.4933141C>T | CA497677577 | CHRNE,GP1BA | c.537C>T (p.Leu179=) c.-888+1201G>A (n.-888+1201G>A) | gnomAD v4 |
17 | g.4933142C>A | CA397317178 | CHRNE,GP1BA | c.538C>A (p.Pro180Thr) c.-888+1200G>T (n.-888+1200G>T) | |
17 | g.4933142C= | CA2244625449 | CHRNE,GP1BA | c.538C= (p.Pro180=) c.-888+1200G= (n.-888+1200G=) | |
17 | g.4933142C>G | CA8314790 | CHRNE,GP1BA | c.538C>G (p.Pro180Ala) c.-888+1200G>C (n.-888+1200G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933142C>T | CA397317180 | CHRNE,GP1BA | c.538C>T (p.Pro180Ser) c.-888+1200G>A (n.-888+1200G>A) | |
17 | g.4933143C>A | CA397317184 | CHRNE,GP1BA | c.539C>A (p.Pro180His) c.-888+1199G>T (n.-888+1199G>T) | |
17 | g.4933143C= | CA2244625450 | CHRNE,GP1BA | c.539C= (p.Pro180=) c.-888+1199G= (n.-888+1199G=) | |
17 | g.4933143C>G | CA397317188 | CHRNE,GP1BA | c.539C>G (p.Pro180Arg) c.-888+1199G>C (n.-888+1199G>C) | |
17 | g.4933143C>T | CA397317190 | CHRNE,GP1BA | c.539C>T (p.Pro180Leu) c.-888+1199G>A (n.-888+1199G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933144C>A | CA497677582 | CHRNE,GP1BA | c.540C>A (p.Pro180=) c.-888+1198G>T (n.-888+1198G>T) | |
17 | g.4933144C= | CA2244625451 | CHRNE,GP1BA | c.540C= (p.Pro180=) c.-888+1198G= (n.-888+1198G=) | |
17 | g.4933144C>G | CA497677584 | CHRNE,GP1BA | c.540C>G (p.Pro180=) c.-888+1198G>C (n.-888+1198G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933144C>T | CA497677587 | CHRNE,GP1BA | c.540C>T (p.Pro180=) c.-888+1198G>A (n.-888+1198G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933145G>A | CA8314791 | CHRNE,GP1BA | c.541G>A (p.Ala181Thr) c.-888+1197C>T (n.-888+1197C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933145G>C | CA397317196 | CHRNE,GP1BA | c.541G>C (p.Ala181Pro) c.-888+1197C>G (n.-888+1197C>G) | gnomAD v4 |
17 | g.4933145G= | CA2244625452 | CHRNE,GP1BA | c.541G= (p.Ala181=) c.-888+1197C= (n.-888+1197C=) | |
17 | g.4933145G>T | CA397317200 | CHRNE,GP1BA | c.541G>T (p.Ala181Ser) c.-888+1197C>A (n.-888+1197C>A) | |
17 | g.4933146C>A | CA397317203 | CHRNE,GP1BA | c.542C>A (p.Ala181Asp) c.-888+1196G>T (n.-888+1196G>T) | |
17 | g.4933146C>G | CA397317207 | CHRNE,GP1BA | c.542C>G (p.Ala181Gly) c.-888+1196G>C (n.-888+1196G>C) | |
17 | g.4933146C>T | CA397317210 | CHRNE,GP1BA | c.542C>T (p.Ala181Val) c.-888+1196G>A (n.-888+1196G>A) | gnomAD v4 |
17 | g.4933147T>A | CA497677588 | CHRNE,GP1BA | c.543T>A (p.Ala181=) c.-888+1195A>T (n.-888+1195A>T) | |
17 | g.4933147T>C | CA497677589 | CHRNE,GP1BA | c.543T>C (p.Ala181=) c.-888+1195A>G (n.-888+1195A>G) | |
17 | g.4933147T>G | CA497677590 | CHRNE,GP1BA | c.543T>G (p.Ala181=) c.-888+1195A>C (n.-888+1195A>C) | |
17 | g.4933148G>A | CA397317226 | CHRNE,GP1BA | c.544G>A (p.Gly182Arg) c.-888+1194C>T (n.-888+1194C>T) | gnomAD v4 |
17 | g.4933148G>C | CA397317222 | CHRNE,GP1BA | c.544G>C (p.Gly182Arg) c.-888+1194C>G (n.-888+1194C>G) | |
17 | g.4933148G>T | CA397317219 | CHRNE,GP1BA | c.544G>T (p.Gly182Trp) c.-888+1194C>A (n.-888+1194C>A) | |
17 | g.4933149G>A | CA397317229 | CHRNE,GP1BA | c.545G>A (p.Gly182Glu) c.-888+1193C>T (n.-888+1193C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933149G>C | CA397317231 | CHRNE,GP1BA | c.545G>C (p.Gly182Ala) c.-888+1193C>G (n.-888+1193C>G) | |
17 | g.4933149G= | CA2244625453 | CHRNE,GP1BA | c.545G= (p.Gly182=) c.-888+1193C= (n.-888+1193C=) | |
17 | g.4933149G>T | CA397317234 | CHRNE,GP1BA | c.545G>T (p.Gly182Val) c.-888+1193C>A (n.-888+1193C>A) | |
17 | g.4933150G>A | CA497677593 | CHRNE,GP1BA | c.546G>A (p.Gly182=) c.-888+1192C>T (n.-888+1192C>T) | gnomAD v4 |
17 | g.4933150G>C | CA497677597 | CHRNE,GP1BA | c.546G>C (p.Gly182=) c.-888+1192C>G (n.-888+1192C>G) | |
17 | g.4933150G>T | CA497677595 | CHRNE,GP1BA | c.546G>T (p.Gly182=) c.-888+1192C>A (n.-888+1192C>A) | |
17 | g.4933151C>A | CA397317236 | CHRNE,GP1BA | c.547C>A (p.Leu183Ile) c.-888+1191G>T (n.-888+1191G>T) | |
17 | g.4933151C>G | CA397317239 | CHRNE,GP1BA | c.547C>G (p.Leu183Val) c.-888+1191G>C (n.-888+1191G>C) | |
17 | g.4933151C>T | CA397317240 | CHRNE,GP1BA | c.547C>T (p.Leu183Phe) c.-888+1191G>A (n.-888+1191G>A) | gnomAD v4 |
17 | g.4933152T>A | CA397317241 | CHRNE,GP1BA | c.548T>A (p.Leu183His) c.-888+1190A>T (n.-888+1190A>T) | |
17 | g.4933152T>C | CA397317242 | CHRNE,GP1BA | c.548T>C (p.Leu183Pro) c.-888+1190A>G (n.-888+1190A>G) | gnomAD v4 |
17 | g.4933152T>G | CA397317243 | CHRNE,GP1BA | c.548T>G (p.Leu183Arg) c.-888+1190A>C (n.-888+1190A>C) | |
17 | g.4933153C>A | CA497677600 | CHRNE,GP1BA | c.549C>A (p.Leu183=) c.-888+1189G>T (n.-888+1189G>T) | gnomAD v4 |
17 | g.4933153C>G | CA497677601 | CHRNE,GP1BA | c.549C>G (p.Leu183=) c.-888+1189G>C (n.-888+1189G>C) | |
17 | g.4933153C>T | CA497677602 | CHRNE,GP1BA | c.549C>T (p.Leu183=) c.-888+1189G>A (n.-888+1189G>A) | |
17 | g.4933154C>A | CA397317244 | CHRNE,GP1BA | c.550C>A (p.Leu184Met) c.-888+1188G>T (n.-888+1188G>T) | |
17 | g.4933154C>G | CA397317245 | CHRNE,GP1BA | c.550C>G (p.Leu184Val) c.-888+1188G>C (n.-888+1188G>C) | |
17 | g.4933154C>T | CA497677605 | CHRNE,GP1BA | c.550C>T (p.Leu184=) c.-888+1188G>A (n.-888+1188G>A) | |
17 | g.4933155T>A | CA397317247 | CHRNE,GP1BA | c.551T>A (p.Leu184Gln) c.-888+1187A>T (n.-888+1187A>T) | ClinVar dbSNP |
17 | g.4933155T>C | CA397317248 | CHRNE,GP1BA | c.551T>C (p.Leu184Pro) c.-888+1187A>G (n.-888+1187A>G) | |
17 | g.4933155T>G | CA397317250 | CHRNE,GP1BA | c.551T>G (p.Leu184Arg) c.-888+1187A>C (n.-888+1187A>C) | |
17 | g.4933156G>A | CA497677610 | CHRNE,GP1BA | c.552G>A (p.Leu184=) c.-888+1186C>T (n.-888+1186C>T) | |
17 | g.4933156G>C | CA8314792 | CHRNE,GP1BA | c.552G>C (p.Leu184=) c.-888+1186C>G (n.-888+1186C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933156G= | CA2244625454 | CHRNE,GP1BA | c.552G= (p.Leu184=) c.-888+1186C= (n.-888+1186C=) | |
17 | g.4933156G>T | CA497677611 | CHRNE,GP1BA | c.552G>T (p.Leu184=) c.-888+1186C>A (n.-888+1186C>A) | |
17 | g.4933157A>C | CA397317253 | CHRNE,GP1BA | c.553A>C (p.Asn185His) c.-888+1185T>G (n.-888+1185T>G) | |
17 | g.4933157A>G | CA397317254 | CHRNE,GP1BA | c.553A>G (p.Asn185Asp) c.-888+1185T>C (n.-888+1185T>C) | |
17 | g.4933157A>T | CA397317256 | CHRNE,GP1BA | c.553A>T (p.Asn185Tyr) c.-888+1185T>A (n.-888+1185T>A) | |
17 | g.4933158A= | CA2244625455 | CHRNE,GP1BA | c.554A= (p.Asn185=) c.-888+1184T= (n.-888+1184T=) | |
17 | g.4933158A>C | CA397317258 | CHRNE,GP1BA | c.554A>C (p.Asn185Thr) c.-888+1184T>G (n.-888+1184T>G) | |
17 | g.4933158A>G | CA397317260 | CHRNE,GP1BA | c.554A>G (p.Asn185Ser) c.-888+1184T>C (n.-888+1184T>C) | |
17 | g.4933158A>T | CA8314793 | CHRNE,GP1BA | c.554A>T (p.Asn185Ile) c.-888+1184T>A (n.-888+1184T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933159_4933194del | CA2695224147 | CHRNE,GP1BA | c.555_590del (p.Asn185_Glu197delinsLys) c.-888+1149_-888+1184del (n.-888+1149_-888+1184del) | ClinVar dbSNP |
17 | g.4933159T>A | CA397317263 | CHRNE,GP1BA | c.555T>A (p.Asn185Lys) c.-888+1183A>T (n.-888+1183A>T) | |
17 | g.4933159T>C | CA497677616 | CHRNE,GP1BA | c.555T>C (p.Asn185=) c.-888+1183A>G (n.-888+1183A>G) | dbSNP gnomAD v4 |
17 | g.4933159T>G | CA397317272 | CHRNE,GP1BA | c.555T>G (p.Asn185Lys) c.-888+1183A>C (n.-888+1183A>C) | |
17 | g.4933159T= | CA2244625456 | CHRNE,GP1BA | c.555T= (p.Asn185=) c.-888+1183A= (n.-888+1183A=) | |
17 | g.4933160G>A | CA397317276 | CHRNE,GP1BA | c.556G>A (p.Gly186Arg) c.-888+1182C>T (n.-888+1182C>T) | |
17 | g.4933160G>C | CA397317281 | CHRNE,GP1BA | c.556G>C (p.Gly186Arg) c.-888+1182C>G (n.-888+1182C>G) | |
17 | g.4933160G>T | CA397317289 | CHRNE,GP1BA | c.556G>T (p.Gly186Trp) c.-888+1182C>A (n.-888+1182C>A) | |
17 | g.4933161G>A | CA8314794 | CHRNE,GP1BA | c.557G>A (p.Gly186Glu) c.-888+1181C>T (n.-888+1181C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933161G>C | CA397317293 | CHRNE,GP1BA | c.557G>C (p.Gly186Ala) c.-888+1181C>G (n.-888+1181C>G) | gnomAD v4 |
17 | g.4933161G= | CA2244625457 | CHRNE,GP1BA | c.557G= (p.Gly186=) c.-888+1181C= (n.-888+1181C=) | |
17 | g.4933161G>T | CA397317296 | CHRNE,GP1BA | c.557G>T (p.Gly186Val) c.-888+1181C>A (n.-888+1181C>A) | |
17 | g.4933162G>A | CA497677620 | CHRNE,GP1BA | c.558G>A (p.Gly186=) c.-888+1180C>T (n.-888+1180C>T) | |
17 | g.4933162G>C | CA497677621 | CHRNE,GP1BA | c.558G>C (p.Gly186=) c.-888+1180C>G (n.-888+1180C>G) | |
17 | g.4933162G>T | CA497677623 | CHRNE,GP1BA | c.558G>T (p.Gly186=) c.-888+1180C>A (n.-888+1180C>A) | |
17 | g.4933163C>A | CA397317306 | CHRNE,GP1BA | c.559C>A (p.Leu187Met) c.-888+1179G>T (n.-888+1179G>T) | |
17 | g.4933163C>G | CA397317304 | CHRNE,GP1BA | c.559C>G (p.Leu187Val) c.-888+1179G>C (n.-888+1179G>C) | |
17 | g.4933163C>T | CA497677624 | CHRNE,GP1BA | c.559C>T (p.Leu187=) c.-888+1179G>A (n.-888+1179G>A) | |
17 | g.4933164T>A | CA397317310 | CHRNE,GP1BA | c.560T>A (p.Leu187Gln) c.-888+1178A>T (n.-888+1178A>T) | |
17 | g.4933164T>C | CA397317322 | CHRNE,GP1BA | c.560T>C (p.Leu187Pro) c.-888+1178A>G (n.-888+1178A>G) | |
17 | g.4933164T>G | CA397317313 | CHRNE,GP1BA | c.560T>G (p.Leu187Arg) c.-888+1178A>C (n.-888+1178A>C) | |
17 | g.4933165G>A | CA497677630 | CHRNE,GP1BA | c.561G>A (p.Leu187=) c.-888+1177C>T (n.-888+1177C>T) | |
17 | g.4933165G>C | CA497677631 | CHRNE,GP1BA | c.561G>C (p.Leu187=) c.-888+1177C>G (n.-888+1177C>G) | |
17 | g.4933165G>T | CA497677633 | CHRNE,GP1BA | c.561G>T (p.Leu187=) c.-888+1177C>A (n.-888+1177C>A) | |
17 | g.4933166G>A | CA397317327 | CHRNE,GP1BA | c.562G>A (p.Glu188Lys) c.-888+1176C>T (n.-888+1176C>T) | |
17 | g.4933166G>C | CA397317331 | CHRNE,GP1BA | c.562G>C (p.Glu188Gln) c.-888+1176C>G (n.-888+1176C>G) | |
17 | g.4933166G>T | CA397317328 | CHRNE,GP1BA | c.562G>T (p.Glu188Ter) c.-888+1176C>A (n.-888+1176C>A) | |
17 | g.4933167A>C | CA397317337 | CHRNE,GP1BA | c.563A>C (p.Glu188Ala) c.-888+1175T>G (n.-888+1175T>G) | |
17 | g.4933167A>G | CA397317341 | CHRNE,GP1BA | c.563A>G (p.Glu188Gly) c.-888+1175T>C (n.-888+1175T>C) | |
17 | g.4933167A>T | CA397317339 | CHRNE,GP1BA | c.563A>T (p.Glu188Val) c.-888+1175T>A (n.-888+1175T>A) | |
17 | g.4933168G>A | CA8314795 | CHRNE,GP1BA | c.564G>A (p.Glu188=) c.-888+1174C>T (n.-888+1174C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933168G>C | CA397317355 | CHRNE,GP1BA | c.564G>C (p.Glu188Asp) c.-888+1174C>G (n.-888+1174C>G) | |
17 | g.4933168G= | CA2244625458 | CHRNE,GP1BA | c.564G= (p.Glu188=) c.-888+1174C= (n.-888+1174C=) | |
17 | g.4933168G>T | CA397317347 | CHRNE,GP1BA | c.564G>T (p.Glu188Asp) c.-888+1174C>A (n.-888+1174C>A) | |
17 | g.4933169A>C | CA397317356 | CHRNE,GP1BA | c.565A>C (p.Asn189His) c.-888+1173T>G (n.-888+1173T>G) | |
17 | g.4933169A>G | CA397317360 | CHRNE,GP1BA | c.565A>G (p.Asn189Asp) c.-888+1173T>C (n.-888+1173T>C) | |
17 | g.4933169A>T | CA397317364 | CHRNE,GP1BA | c.565A>T (p.Asn189Tyr) c.-888+1173T>A (n.-888+1173T>A) | |
17 | g.4933170A>C | CA397317367 | CHRNE,GP1BA | c.566A>C (p.Asn189Thr) c.-888+1172T>G (n.-888+1172T>G) | |
17 | g.4933170A>G | CA397317369 | CHRNE,GP1BA | c.566A>G (p.Asn189Ser) c.-888+1172T>C (n.-888+1172T>C) | |
17 | g.4933170A>T | CA397317372 | CHRNE,GP1BA | c.566A>T (p.Asn189Ile) c.-888+1172T>A (n.-888+1172T>A) | gnomAD v4 |
17 | g.4933171T>A | CA397317373 | CHRNE,GP1BA | c.567T>A (p.Asn189Lys) c.-888+1171A>T (n.-888+1171A>T) | gnomAD v4 |
17 | g.4933171T>C | CA497677640 | CHRNE,GP1BA | c.567T>C (p.Asn189=) c.-888+1171A>G (n.-888+1171A>G) | |
17 | g.4933171T>G | CA397317376 | CHRNE,GP1BA | c.567T>G (p.Asn189Lys) c.-888+1171A>C (n.-888+1171A>C) | |
17 | g.4933172C>A | CA397317380 | CHRNE,GP1BA | c.568C>A (p.Leu190Ile) c.-888+1170G>T (n.-888+1170G>T) | |
17 | g.4933172C>G | CA397317383 | CHRNE,GP1BA | c.568C>G (p.Leu190Val) c.-888+1170G>C (n.-888+1170G>C) | |
17 | g.4933172C>T | CA397317384 | CHRNE,GP1BA | c.568C>T (p.Leu190Phe) c.-888+1170G>A (n.-888+1170G>A) | gnomAD v4 |
17 | g.4933173T>A | CA397317388 | CHRNE,GP1BA | c.569T>A (p.Leu190His) c.-888+1169A>T (n.-888+1169A>T) | |
17 | g.4933173T>C | CA397317394 | CHRNE,GP1BA | c.569T>C (p.Leu190Pro) c.-888+1169A>G (n.-888+1169A>G) | |
17 | g.4933173T>G | CA397317391 | CHRNE,GP1BA | c.569T>G (p.Leu190Arg) c.-888+1169A>C (n.-888+1169A>C) | |
17 | g.4933174C>A | CA497677647 | CHRNE,GP1BA | c.570C>A (p.Leu190=) c.-888+1168G>T (n.-888+1168G>T) | gnomAD v4 |
17 | g.4933174C= | CA2244625459 | CHRNE,GP1BA | c.570C= (p.Leu190=) c.-888+1168G= (n.-888+1168G=) | |
17 | g.4933174C>G | CA497677650 | CHRNE,GP1BA | c.570C>G (p.Leu190=) c.-888+1168G>C (n.-888+1168G>C) | |
17 | g.4933174C>T | CA8314796 | CHRNE,GP1BA | c.570C>T (p.Leu190=) c.-888+1168G>A (n.-888+1168G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933175G>A | CA8314797 | CHRNE,GP1BA | c.571G>A (p.Asp191Asn) c.-888+1167C>T (n.-888+1167C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933175G>C | CA397317401 | CHRNE,GP1BA | c.571G>C (p.Asp191His) c.-888+1167C>G (n.-888+1167C>G) | gnomAD v4 |
17 | g.4933175G= | CA2244625460 | CHRNE,GP1BA | c.571G= (p.Asp191=) c.-888+1167C= (n.-888+1167C=) | |
17 | g.4933175G>T | CA397317402 | CHRNE,GP1BA | c.571G>T (p.Asp191Tyr) c.-888+1167C>A (n.-888+1167C>A) | |
17 | g.4933176A>C | CA397317403 | CHRNE,GP1BA | c.572A>C (p.Asp191Ala) c.-888+1166T>G (n.-888+1166T>G) | |
17 | g.4933176A>G | CA397317405 | CHRNE,GP1BA | c.572A>G (p.Asp191Gly) c.-888+1166T>C (n.-888+1166T>C) | |
17 | g.4933176A>T | CA397317407 | CHRNE,GP1BA | c.572A>T (p.Asp191Val) c.-888+1166T>A (n.-888+1166T>A) | gnomAD v4 |
17 | g.4933177C>A | CA397317413 | CHRNE,GP1BA | c.573C>A (p.Asp191Glu) c.-888+1165G>T (n.-888+1165G>T) | |
17 | g.4933177C>G | CA397317415 | CHRNE,GP1BA | c.573C>G (p.Asp191Glu) c.-888+1165G>C (n.-888+1165G>C) | |
17 | g.4933177C>T | CA497677652 | CHRNE,GP1BA | c.573C>T (p.Asp191=) c.-888+1165G>A (n.-888+1165G>A) | |
17 | g.4933178A>C | CA397317421 | CHRNE,GP1BA | c.574A>C (p.Thr192Pro) c.-888+1164T>G (n.-888+1164T>G) | |
17 | g.4933178A>G | CA397317423 | CHRNE,GP1BA | c.574A>G (p.Thr192Ala) c.-888+1164T>C (n.-888+1164T>C) | |
17 | g.4933178A>T | CA397317419 | CHRNE,GP1BA | c.574A>T (p.Thr192Ser) c.-888+1164T>A (n.-888+1164T>A) | |
17 | g.4933179C>A | CA397317435 | CHRNE,GP1BA | c.575C>A (p.Thr192Asn) c.-888+1163G>T (n.-888+1163G>T) | |
17 | g.4933179C= | CA2244625461 | CHRNE,GP1BA | c.575C= (p.Thr192=) c.-888+1163G= (n.-888+1163G=) | |
17 | g.4933179C>G | CA8314798 | CHRNE,GP1BA | c.575C>G (p.Thr192Ser) c.-888+1163G>C (n.-888+1163G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933179C>T | CA397317441 | CHRNE,GP1BA | c.575C>T (p.Thr192Ile) c.-888+1163G>A (n.-888+1163G>A) | |
17 | g.4933180C>A | CA497677655 | CHRNE,GP1BA | c.576C>A (p.Thr192=) c.-888+1162G>T (n.-888+1162G>T) | |
17 | g.4933180C= | CA2244625462 | CHRNE,GP1BA | c.576C= (p.Thr192=) c.-888+1162G= (n.-888+1162G=) | |
17 | g.4933180C>G | CA8314799 | CHRNE,GP1BA | c.576C>G (p.Thr192=) c.-888+1162G>C (n.-888+1162G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933180C>T | CA497677657 | CHRNE,GP1BA | c.576C>T (p.Thr192=) c.-888+1162G>A (n.-888+1162G>A) | gnomAD v4 |
17 | g.4933181C>A | CA397317455 | CHRNE,GP1BA | c.577C>A (p.Leu193Ile) c.-888+1161G>T (n.-888+1161G>T) | |
17 | g.4933181C= | CA2244625463 | CHRNE,GP1BA | c.577C= (p.Leu193=) c.-888+1161G= (n.-888+1161G=) | |
17 | g.4933181C>G | CA397317450 | CHRNE,GP1BA | c.577C>G (p.Leu193Val) c.-888+1161G>C (n.-888+1161G>C) | gnomAD v4 |
17 | g.4933181C>T | CA8314800 | CHRNE,GP1BA | c.577C>T (p.Leu193Phe) c.-888+1161G>A (n.-888+1161G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933182T>A | CA397317459 | CHRNE,GP1BA | c.578T>A (p.Leu193His) c.-888+1160A>T (n.-888+1160A>T) | |
17 | g.4933182T>C | CA397317465 | CHRNE,GP1BA | c.578T>C (p.Leu193Pro) c.-888+1160A>G (n.-888+1160A>G) | |
17 | g.4933182T>G | CA397317468 | CHRNE,GP1BA | c.578T>G (p.Leu193Arg) c.-888+1160A>C (n.-888+1160A>C) | |
17 | g.4933183T>A | CA497677661 | CHRNE,GP1BA | c.579T>A (p.Leu193=) c.-888+1159A>T (n.-888+1159A>T) | |
17 | g.4933183T>C | CA497677663 | CHRNE,GP1BA | c.579T>C (p.Leu193=) c.-888+1159A>G (n.-888+1159A>G) | |
17 | g.4933183T>G | CA497677664 | CHRNE,GP1BA | c.579T>G (p.Leu193=) c.-888+1159A>C (n.-888+1159A>C) | |
17 | g.4933184C>A | CA397317470 | CHRNE,GP1BA | c.580C>A (p.Leu194Ile) c.-888+1158G>T (n.-888+1158G>T) | gnomAD v4 |
17 | g.4933184C= | CA2244625464 | CHRNE,GP1BA | c.580C= (p.Leu194=) c.-888+1158G= (n.-888+1158G=) | |
17 | g.4933184C>G | CA397317472 | CHRNE,GP1BA | c.580C>G (p.Leu194Val) c.-888+1158G>C (n.-888+1158G>C) | |
17 | g.4933184C>T | CA8314801 | CHRNE,GP1BA | c.580C>T (p.Leu194Phe) c.-888+1158G>A (n.-888+1158G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933188_4933190del | CA658820706 | CHRNE,GP1BA | c.584_586del (p.Leu195del) c.-888+1156_-888+1158del (n.-888+1156_-888+1158del) | ClinVar |
17 | g.4933185T>A | CA397317478 | CHRNE,GP1BA | c.581T>A (p.Leu194His) c.-888+1157A>T (n.-888+1157A>T) | |
17 | g.4933185T>C | CA397317484 | CHRNE,GP1BA | c.581T>C (p.Leu194Pro) c.-888+1157A>G (n.-888+1157A>G) | |
17 | g.4933185T>G | CA397317482 | CHRNE,GP1BA | c.581T>G (p.Leu194Arg) c.-888+1157A>C (n.-888+1157A>C) | |
17 | g.4933186C>A | CA497677666 | CHRNE,GP1BA | c.582C>A (p.Leu194=) c.-888+1156G>T (n.-888+1156G>T) | gnomAD v4 |
17 | g.4933186C>G | CA497677668 | CHRNE,GP1BA | c.582C>G (p.Leu194=) c.-888+1156G>C (n.-888+1156G>C) | |
17 | g.4933186C>T | CA497677670 | CHRNE,GP1BA | c.582C>T (p.Leu194=) c.-888+1156G>A (n.-888+1156G>A) | ClinVar |
17 | g.4933187C>A | CA397317487 | CHRNE,GP1BA | c.583C>A (p.Leu195Ile) c.-888+1155G>T (n.-888+1155G>T) | |
17 | g.4933187C= | CA2244625465 | CHRNE,GP1BA | c.583C= (p.Leu195=) c.-888+1155G= (n.-888+1155G=) | |
17 | g.4933187C>G | CA397317491 | CHRNE,GP1BA | c.583C>G (p.Leu195Val) c.-888+1155G>C (n.-888+1155G>C) | |
17 | g.4933187C>T | CA8314802 | CHRNE,GP1BA | c.583C>T (p.Leu195Phe) c.-888+1155G>A (n.-888+1155G>A) | dbSNP ExAC gnomAD v2 |
17 | g.4933188T>A | CA397317504 | CHRNE,GP1BA | c.584T>A (p.Leu195His) c.-888+1154A>T (n.-888+1154A>T) | |
17 | g.4933188T>C | CA397317508 | CHRNE,GP1BA | c.584T>C (p.Leu195Pro) c.-888+1154A>G (n.-888+1154A>G) | |
17 | g.4933188T>G | CA397317511 | CHRNE,GP1BA | c.584T>G (p.Leu195Arg) c.-888+1154A>C (n.-888+1154A>C) | |
17 | g.4933189C>A | CA497677671 | CHRNE,GP1BA | c.585C>A (p.Leu195=) c.-888+1153G>T (n.-888+1153G>T) | |
17 | g.4933189C>G | CA497677673 | CHRNE,GP1BA | c.585C>G (p.Leu195=) c.-888+1153G>C (n.-888+1153G>C) | |
17 | g.4933189C>T | CA497677674 | CHRNE,GP1BA | c.585C>T (p.Leu195=) c.-888+1153G>A (n.-888+1153G>A) | COSMIC |
17 | g.4933190C>A | CA397317514 | CHRNE,GP1BA | c.586C>A (p.Gln196Lys) c.-888+1152G>T (n.-888+1152G>T) | |
17 | g.4933190C= | CA2244625466 | CHRNE,GP1BA | c.586C= (p.Gln196=) c.-888+1152G= (n.-888+1152G=) | |
17 | g.4933190C>G | CA397317519 | CHRNE,GP1BA | c.586C>G (p.Gln196Glu) c.-888+1152G>C (n.-888+1152G>C) | |
17 | g.4933190C>T | CA287216296 | CHRNE,GP1BA | c.586C>T (p.Gln196Ter) c.-888+1152G>A (n.-888+1152G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933191A>C | CA397317525 | CHRNE,GP1BA | c.587A>C (p.Gln196Pro) c.-888+1151T>G (n.-888+1151T>G) | |
17 | g.4933191A>G | CA397317529 | CHRNE,GP1BA | c.587A>G (p.Gln196Arg) c.-888+1151T>C (n.-888+1151T>C) | |
17 | g.4933191A>T | CA397317531 | CHRNE,GP1BA | c.587A>T (p.Gln196Leu) c.-888+1151T>A (n.-888+1151T>A) | |
17 | g.4933192A= | CA2244625467 | CHRNE,GP1BA | c.588A= (p.Gln196=) c.-888+1150T= (n.-888+1150T=) | |
17 | g.4933192A>C | CA397317536 | CHRNE,GP1BA | c.588A>C (p.Gln196His) c.-888+1150T>G (n.-888+1150T>G) | |
17 | g.4933192A>G | CA497677677 | CHRNE,GP1BA | c.588A>G (p.Gln196=) c.-888+1150T>C (n.-888+1150T>C) | ClinVar dbSNP |
17 | g.4933192A>T | CA397317534 | CHRNE,GP1BA | c.588A>T (p.Gln196His) c.-888+1150T>A (n.-888+1150T>A) | |
17 | g.4933193G>A | CA397317540 | CHRNE,GP1BA | c.589G>A (p.Glu197Lys) c.-888+1149C>T (n.-888+1149C>T) | dbSNP |
17 | g.4933193G>C | CA397317544 | CHRNE,GP1BA | c.589G>C (p.Glu197Gln) c.-888+1149C>G (n.-888+1149C>G) | |
17 | g.4933193G= | CA2244625468 | CHRNE,GP1BA | c.589G= (p.Glu197=) c.-888+1149C= (n.-888+1149C=) | |
17 | g.4933193G>T | CA397317542 | CHRNE,GP1BA | c.589G>T (p.Glu197Ter) c.-888+1149C>A (n.-888+1149C>A) | |
17 | g.4933194A>C | CA397317550 | CHRNE,GP1BA | c.590A>C (p.Glu197Ala) c.-888+1148T>G (n.-888+1148T>G) | |
17 | g.4933194A>G | CA397317554 | CHRNE,GP1BA | c.590A>G (p.Glu197Gly) c.-888+1148T>C (n.-888+1148T>C) | |
17 | g.4933194A>T | CA397317561 | CHRNE,GP1BA | c.590A>T (p.Glu197Val) c.-888+1148T>A (n.-888+1148T>A) | |
17 | g.4933195G>A | CA497677678 | CHRNE,GP1BA | c.591G>A (p.Glu197=) c.-888+1147C>T (n.-888+1147C>T) | COSMIC |
17 | g.4933195G>C | CA397317565 | CHRNE,GP1BA | c.591G>C (p.Glu197Asp) c.-888+1147C>G (n.-888+1147C>G) | |
17 | g.4933195G>T | CA397317567 | CHRNE,GP1BA | c.591G>T (p.Glu197Asp) c.-888+1147C>A (n.-888+1147C>A) | COSMIC |
17 | g.4933196A>C | CA397317571 | CHRNE,GP1BA | c.592A>C (p.Asn198His) c.-888+1146T>G (n.-888+1146T>G) | |
17 | g.4933196A>G | CA397317575 | CHRNE,GP1BA | c.592A>G (p.Asn198Asp) c.-888+1146T>C (n.-888+1146T>C) | |
17 | g.4933196A>T | CA397317577 | CHRNE,GP1BA | c.592A>T (p.Asn198Tyr) c.-888+1146T>A (n.-888+1146T>A) | |
17 | g.4933197A>C | CA397317579 | CHRNE,GP1BA | c.593A>C (p.Asn198Thr) c.-888+1145T>G (n.-888+1145T>G) | |
17 | g.4933197A>G | CA397317586 | CHRNE,GP1BA | c.593A>G (p.Asn198Ser) c.-888+1145T>C (n.-888+1145T>C) | |
17 | g.4933197A>T | CA397317589 | CHRNE,GP1BA | c.593A>T (p.Asn198Ile) c.-888+1145T>A (n.-888+1145T>A) | |
17 | g.4933198C>A | CA397317598 | CHRNE,GP1BA | c.594C>A (p.Asn198Lys) c.-888+1144G>T (n.-888+1144G>T) | |
17 | g.4933198C= | CA2244625469 | CHRNE,GP1BA | c.594C= (p.Asn198=) c.-888+1144G= (n.-888+1144G=) | |
17 | g.4933198C>G | CA397317596 | CHRNE,GP1BA | c.594C>G (p.Asn198Lys) c.-888+1144G>C (n.-888+1144G>C) | |
17 | g.4933198C>T | CA8314803 | CHRNE,GP1BA | c.594C>T (p.Asn198=) c.-888+1144G>A (n.-888+1144G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933199T>A | CA397317602 | CHRNE,GP1BA | c.595T>A (p.Ser199Thr) c.-888+1143A>T (n.-888+1143A>T) | |
17 | g.4933199T>C | CA397317603 | CHRNE,GP1BA | c.595T>C (p.Ser199Pro) c.-888+1143A>G (n.-888+1143A>G) | gnomAD v4 |
17 | g.4933199T>G | CA397317605 | CHRNE,GP1BA | c.595T>G (p.Ser199Ala) c.-888+1143A>C (n.-888+1143A>C) | |
17 | g.4933200C>A | CA397317608 | CHRNE,GP1BA | c.596C>A (p.Ser199Ter) c.-888+1142G>T (n.-888+1142G>T) | |
17 | g.4933200C= | CA2244625470 | CHRNE,GP1BA | c.596C= (p.Ser199=) c.-888+1142G= (n.-888+1142G=) | |
17 | g.4933200C>G | CA397317611 | CHRNE,GP1BA | c.596C>G (p.Ser199Trp) c.-888+1142G>C (n.-888+1142G>C) | |
17 | g.4933200C>T | CA8314804 | CHRNE,GP1BA | c.596C>T (p.Ser199Leu) c.-888+1142G>A (n.-888+1142G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933201del | CA2635578784 | CHRNE,GP1BA | c.597del (p.Leu200CysfsTer?) c.-888+1141del (n.-888+1141del) | gnomAD v4 |
17 | g.4933201G>A | CA8314805 | CHRNE,GP1BA | c.597G>A (p.Ser199=) c.-888+1141C>T (n.-888+1141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4933201G>C | CA497677679 | CHRNE,GP1BA | c.597G>C (p.Ser199=) c.-888+1141C>G (n.-888+1141C>G) | |
17 | g.4933201G= | CA2244625471 | CHRNE,GP1BA | c.597G= (p.Ser199=) c.-888+1141C= (n.-888+1141C=) | |
17 | g.4933201G>T | CA497677680 | CHRNE,GP1BA | c.597G>T (p.Ser199=) c.-888+1141C>A (n.-888+1141C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933202C>A | CA397317617 | CHRNE,GP1BA | c.598C>A (p.Leu200Met) c.-888+1140G>T (n.-888+1140G>T) | |
17 | g.4933202C>G | CA397317618 | CHRNE,GP1BA | c.598C>G (p.Leu200Val) c.-888+1140G>C (n.-888+1140G>C) | |
17 | g.4933202C>T | CA497677681 | CHRNE,GP1BA | c.598C>T (p.Leu200=) c.-888+1140G>A (n.-888+1140G>A) | |
17 | g.4933203T>A | CA397317622 | CHRNE,GP1BA | c.599T>A (p.Leu200Gln) c.-888+1139A>T (n.-888+1139A>T) | |
17 | g.4933203T>C | CA8314806 | CHRNE,GP1BA | c.599T>C (p.Leu200Pro) c.-888+1139A>G (n.-888+1139A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933203T>G | CA397317624 | CHRNE,GP1BA | c.599T>G (p.Leu200Arg) c.-888+1139A>C (n.-888+1139A>C) | |
17 | g.4933203T= | CA2244625472 | CHRNE,GP1BA | c.599T= (p.Leu200=) c.-888+1139A= (n.-888+1139A=) | |
17 | g.4933204G>A | CA497677682 | CHRNE,GP1BA | c.600G>A (p.Leu200=) c.-888+1138C>T (n.-888+1138C>T) | |
17 | g.4933204G>C | CA497677683 | CHRNE,GP1BA | c.600G>C (p.Leu200=) c.-888+1138C>G (n.-888+1138C>G) | |
17 | g.4933204G>T | CA497677684 | CHRNE,GP1BA | c.600G>T (p.Leu200=) c.-888+1138C>A (n.-888+1138C>A) | |
17 | g.4933205T>A | CA397317631 | CHRNE,GP1BA | c.601T>A (p.Tyr201Asn) c.-888+1137A>T (n.-888+1137A>T) | |
17 | g.4933205T>C | CA397317628 | CHRNE,GP1BA | c.601T>C (p.Tyr201His) c.-888+1137A>G (n.-888+1137A>G) | COSMIC |
17 | g.4933205T>G | CA397317626 | CHRNE,GP1BA | c.601T>G (p.Tyr201Asp) c.-888+1137A>C (n.-888+1137A>C) | |
17 | g.4933206A= | CA2244625473 | CHRNE,GP1BA | c.602A= (p.Tyr201=) c.-888+1136T= (n.-888+1136T=) | |
17 | g.4933206A>C | CA397317632 | CHRNE,GP1BA | c.602A>C (p.Tyr201Ser) c.-888+1136T>G (n.-888+1136T>G) | |
17 | g.4933206A>G | CA287216322 | CHRNE,GP1BA | c.602A>G (p.Tyr201Cys) c.-888+1136T>C (n.-888+1136T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933206A>T | CA397317637 | CHRNE,GP1BA | c.602A>T (p.Tyr201Phe) c.-888+1136T>A (n.-888+1136T>A) | |
17 | g.4933207T>A | CA397317640 | CHRNE,GP1BA | c.603T>A (p.Tyr201Ter) c.-888+1135A>T (n.-888+1135A>T) | |
17 | g.4933207T>C | CA497677685 | CHRNE,GP1BA | c.603T>C (p.Tyr201=) c.-888+1135A>G (n.-888+1135A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933207T>G | CA397317642 | CHRNE,GP1BA | c.603T>G (p.Tyr201Ter) c.-888+1135A>C (n.-888+1135A>C) | |
17 | g.4933207T= | CA2244625474 | CHRNE,GP1BA | c.603T= (p.Tyr201=) c.-888+1135A= (n.-888+1135A=) | |
17 | g.4933208A>C | CA397317650 | CHRNE,GP1BA | c.604A>C (p.Thr202Pro) c.-888+1134T>G (n.-888+1134T>G) | |
17 | g.4933208A>G | CA397317648 | CHRNE,GP1BA | c.604A>G (p.Thr202Ala) c.-888+1134T>C (n.-888+1134T>C) | |
17 | g.4933208A>T | CA397317645 | CHRNE,GP1BA | c.604A>T (p.Thr202Ser) c.-888+1134T>A (n.-888+1134T>A) | |
17 | g.4933209C>A | CA397317651 | CHRNE,GP1BA | c.605C>A (p.Thr202Lys) c.-888+1133G>T (n.-888+1133G>T) | |
17 | g.4933209C>G | CA397317652 | CHRNE,GP1BA | c.605C>G (p.Thr202Arg) c.-888+1133G>C (n.-888+1133G>C) | |
17 | g.4933209C>T | CA397317654 | CHRNE,GP1BA | c.605C>T (p.Thr202Ile) c.-888+1133G>A (n.-888+1133G>A) | gnomAD v4 |
17 | g.4933210A= | CA2244625475 | CHRNE,GP1BA | c.606A= (p.Thr202=) c.-888+1132T= (n.-888+1132T=) | |
17 | g.4933210A>C | CA497677688 | CHRNE,GP1BA | c.606A>C (p.Thr202=) c.-888+1132T>G (n.-888+1132T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933210A>G | CA497677687 | CHRNE,GP1BA | c.606A>G (p.Thr202=) c.-888+1132T>C (n.-888+1132T>C) | dbSNP COSMIC |
17 | g.4933210A>T | CA497677686 | CHRNE,GP1BA | c.606A>T (p.Thr202=) c.-888+1132T>A (n.-888+1132T>A) |