WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16997018A= | CA1156032556 | ATP13A2 | c.1195+2T= (n.1195+2T=) c.1180+2T= (n.1180+2T=) n.803+2T= n.334+2T= c.355+2T= (n.355+2T=) c.334+2T= (n.334+2T=) c.1192+2T= (n.1192+2T=) c.1168+2T= (n.1168+2T=) c.1177+2T= (n.1177+2T=) c.1153+2T= (n.1153+2T=) c.1165+2T= (n.1165+2T=) | |
| 1 | g.16997018A>C | CA338254939 | ATP13A2 | c.1195+2T>G (n.1195+2T>G) c.1180+2T>G (n.1180+2T>G) n.803+2T>G n.334+2T>G c.355+2T>G (n.355+2T>G) c.334+2T>G (n.334+2T>G) c.1192+2T>G (n.1192+2T>G) c.1168+2T>G (n.1168+2T>G) c.1177+2T>G (n.1177+2T>G) c.1153+2T>G (n.1153+2T>G) c.1165+2T>G (n.1165+2T>G) | |
| 1 | g.16997018A>G | CA637338 | ATP13A2 | c.1195+2T>C (n.1195+2T>C) c.1180+2T>C (n.1180+2T>C) n.803+2T>C n.334+2T>C c.355+2T>C (n.355+2T>C) c.334+2T>C (n.334+2T>C) c.1192+2T>C (n.1192+2T>C) c.1168+2T>C (n.1168+2T>C) c.1177+2T>C (n.1177+2T>C) c.1153+2T>C (n.1153+2T>C) c.1165+2T>C (n.1165+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16997018A>T | CA338254940 | ATP13A2 | c.1195+2T>A (n.1195+2T>A) c.1180+2T>A (n.1180+2T>A) n.803+2T>A n.334+2T>A c.355+2T>A (n.355+2T>A) c.334+2T>A (n.334+2T>A) c.1192+2T>A (n.1192+2T>A) c.1168+2T>A (n.1168+2T>A) c.1177+2T>A (n.1177+2T>A) c.1153+2T>A (n.1153+2T>A) c.1165+2T>A (n.1165+2T>A) | |
| 1 | g.16997019C>A | CA338254941 | ATP13A2 | c.1195+1G>T (n.1195+1G>T) c.1180+1G>T (n.1180+1G>T) n.803+1G>T n.334+1G>T c.355+1G>T (n.355+1G>T) c.334+1G>T (n.334+1G>T) c.1192+1G>T (n.1192+1G>T) c.1168+1G>T (n.1168+1G>T) c.1177+1G>T (n.1177+1G>T) c.1153+1G>T (n.1153+1G>T) c.1165+1G>T (n.1165+1G>T) | |
| 1 | g.16997019C>G | CA338254942 | ATP13A2 | c.1195+1G>C (n.1195+1G>C) c.1180+1G>C (n.1180+1G>C) n.803+1G>C n.334+1G>C c.355+1G>C (n.355+1G>C) c.334+1G>C (n.334+1G>C) c.1192+1G>C (n.1192+1G>C) c.1168+1G>C (n.1168+1G>C) c.1177+1G>C (n.1177+1G>C) c.1153+1G>C (n.1153+1G>C) c.1165+1G>C (n.1165+1G>C) | |
| 1 | g.16997019C>T | CA338254943 | ATP13A2 | c.1195+1G>A (n.1195+1G>A) c.1180+1G>A (n.1180+1G>A) n.803+1G>A n.334+1G>A c.355+1G>A (n.355+1G>A) c.334+1G>A (n.334+1G>A) c.1192+1G>A (n.1192+1G>A) c.1168+1G>A (n.1168+1G>A) c.1177+1G>A (n.1177+1G>A) c.1153+1G>A (n.1153+1G>A) c.1165+1G>A (n.1165+1G>A) | |
| 1 | g.16997020del | CA2643674551 | ATP13A2 | c.1195+1del c.1180+1del n.803+1del n.334+1del c.355+1del c.334+1del c.1192+1del c.1168+1del c.1177+1del c.1153+1del c.1165+1del | gnomAD v4 |
| 1 | g.16997020C>A | CA338254946 | ATP13A2 | c.1195G>T (p.Gly399Trp) c.1180G>T (p.Gly394Trp) n.803G>T n.334G>T c.355G>T (p.Gly119Trp) c.334G>T (p.Ala112Ser) c.1192G>T (p.Gly398Trp) c.1168G>T (p.Gly390Trp) c.1177G>T (p.Gly393Trp) c.1153G>T (p.Gly385Trp) c.1165G>T (p.Gly389Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16997020C= | CA1156032563 | ATP13A2 | c.1195G= (p.Gly399=) c.1180G= (p.Gly394=) n.803G= n.334G= c.355G= (p.Gly119=) c.334G= (p.Ala112=) c.1192G= (p.Gly398=) c.1168G= (p.Gly390=) c.1177G= (p.Gly393=) c.1153G= (p.Gly385=) c.1165G= (p.Gly389=) | |
| 1 | g.16997020C>G | CA338254944 | ATP13A2 | c.1195G>C (p.Gly399Arg) c.1180G>C (p.Gly394Arg) n.803G>C n.334G>C c.355G>C (p.Gly119Arg) c.334G>C (p.Ala112Pro) c.1192G>C (p.Gly398Arg) c.1168G>C (p.Gly390Arg) c.1177G>C (p.Gly393Arg) c.1153G>C (p.Gly385Arg) c.1165G>C (p.Gly389Arg) | |
| 1 | g.16997020C>T | CA338254945 | ATP13A2 | c.1195G>A (p.Gly399Arg) c.1180G>A (p.Gly394Arg) n.803G>A n.334G>A c.355G>A (p.Gly119Arg) c.334G>A (p.Ala112Thr) c.1192G>A (p.Gly398Arg) c.1168G>A (p.Gly390Arg) c.1177G>A (p.Gly393Arg) c.1153G>A (p.Gly385Arg) c.1165G>A (p.Gly389Arg) | |
| 1 | g.16997021T>A | CA416062710 | ATP13A2 | c.1194A>T (p.Thr398=) c.1179A>T (p.Thr393=) n.802A>T n.333A>T c.354A>T (p.Thr118=) c.333A>T (p.Thr111=) c.1191A>T (p.Thr397=) c.1167A>T (p.Thr389=) c.1176A>T (p.Thr392=) c.1152A>T (p.Thr384=) c.1164A>T (p.Thr388=) | |
| 1 | g.16997021T>C | CA416062708 | ATP13A2 | c.1194A>G (p.Thr398=) c.1179A>G (p.Thr393=) n.802A>G n.333A>G c.354A>G (p.Thr118=) c.333A>G (p.Thr111=) c.1191A>G (p.Thr397=) c.1167A>G (p.Thr389=) c.1176A>G (p.Thr392=) c.1152A>G (p.Thr384=) c.1164A>G (p.Thr388=) | gnomAD v4 |
| 1 | g.16997021T>G | CA416062705 | ATP13A2 | c.1194A>C (p.Thr398=) c.1179A>C (p.Thr393=) n.802A>C n.333A>C c.354A>C (p.Thr118=) c.333A>C (p.Thr111=) c.1191A>C (p.Thr397=) c.1167A>C (p.Thr389=) c.1176A>C (p.Thr392=) c.1152A>C (p.Thr384=) c.1164A>C (p.Thr388=) | |
| 1 | g.16997022G>A | CA338254947 | ATP13A2 | c.1193C>T (p.Thr398Ile) c.1178C>T (p.Thr393Ile) n.801C>T n.332C>T c.353C>T (p.Thr118Ile) c.332C>T (p.Thr111Ile) c.1190C>T (p.Thr397Ile) c.1166C>T (p.Thr389Ile) c.1175C>T (p.Thr392Ile) c.1151C>T (p.Thr384Ile) c.1163C>T (p.Thr388Ile) | dbSNP |
| 1 | g.16997022G>C | CA338254948 | ATP13A2 | c.1193C>G (p.Thr398Arg) c.1178C>G (p.Thr393Arg) n.801C>G n.332C>G c.353C>G (p.Thr118Arg) c.332C>G (p.Thr111Arg) c.1190C>G (p.Thr397Arg) c.1166C>G (p.Thr389Arg) c.1175C>G (p.Thr392Arg) c.1151C>G (p.Thr384Arg) c.1163C>G (p.Thr388Arg) | dbSNP |
| 1 | g.16997022G= | CA1156032567 | ATP13A2 | c.1193C= (p.Thr398=) c.1178C= (p.Thr393=) n.801C= n.332C= c.353C= (p.Thr118=) c.332C= (p.Thr111=) c.1190C= (p.Thr397=) c.1166C= (p.Thr389=) c.1175C= (p.Thr392=) c.1151C= (p.Thr384=) c.1163C= (p.Thr388=) | |
| 1 | g.16997022G>T | CA338254949 | ATP13A2 | c.1193C>A (p.Thr398Lys) c.1178C>A (p.Thr393Lys) n.801C>A n.332C>A c.353C>A (p.Thr118Lys) c.332C>A (p.Thr111Lys) c.1190C>A (p.Thr397Lys) c.1166C>A (p.Thr389Lys) c.1175C>A (p.Thr392Lys) c.1151C>A (p.Thr384Lys) c.1163C>A (p.Thr388Lys) | |
| 1 | g.16997028_16997050del | CA2643674552 | ATP13A2 | c.1171_1193del (p.Val391ArgfsTer25) c.1156_1178del (p.Val386ArgfsTer25) n.779_801del n.310_332del c.331_353del (p.Val111ArgfsTer19) c.310_332del (p.Val104SerfsTer21) c.1168_1190del (p.Val390ArgfsTer25) c.1144_1166del (p.Val382ArgfsTer25) c.1153_1175del (p.Val385ArgfsTer25) c.1129_1151del (p.Val377ArgfsTer25) c.1141_1163del (p.Val381ArgfsTer25) | gnomAD v4 |
| 1 | g.16997023T>A | CA338254950 | ATP13A2 | c.1192A>T (p.Thr398Ser) c.1177A>T (p.Thr393Ser) n.800A>T n.331A>T c.352A>T (p.Thr118Ser) c.331A>T (p.Thr111Ser) c.1189A>T (p.Thr397Ser) c.1165A>T (p.Thr389Ser) c.1174A>T (p.Thr392Ser) c.1150A>T (p.Thr384Ser) c.1162A>T (p.Thr388Ser) | |
| 1 | g.16997023T>C | CA338254951 | ATP13A2 | c.1192A>G (p.Thr398Ala) c.1177A>G (p.Thr393Ala) n.800A>G n.331A>G c.352A>G (p.Thr118Ala) c.331A>G (p.Thr111Ala) c.1189A>G (p.Thr397Ala) c.1165A>G (p.Thr389Ala) c.1174A>G (p.Thr392Ala) c.1150A>G (p.Thr384Ala) c.1162A>G (p.Thr388Ala) | |
| 1 | g.16997023T>G | CA338254952 | ATP13A2 | c.1192A>C (p.Thr398Pro) c.1177A>C (p.Thr393Pro) n.800A>C n.331A>C c.352A>C (p.Thr118Pro) c.331A>C (p.Thr111Pro) c.1189A>C (p.Thr397Pro) c.1165A>C (p.Thr389Pro) c.1174A>C (p.Thr392Pro) c.1150A>C (p.Thr384Pro) c.1162A>C (p.Thr388Pro) | |
| 1 | g.16997024G>A | CA416062730 | ATP13A2 | c.1191C>T (p.Arg397=) c.1176C>T (p.Arg392=) n.799C>T n.330C>T c.351C>T (p.Arg117=) c.330C>T (p.Arg110=) c.1188C>T (p.Arg396=) c.1164C>T (p.Arg388=) c.1173C>T (p.Arg391=) c.1149C>T (p.Arg383=) c.1161C>T (p.Arg387=) | |
| 1 | g.16997024G>C | CA416062735 | ATP13A2 | c.1191C>G (p.Arg397=) c.1176C>G (p.Arg392=) n.799C>G n.330C>G c.351C>G (p.Arg117=) c.330C>G (p.Arg110=) c.1188C>G (p.Arg396=) c.1164C>G (p.Arg388=) c.1173C>G (p.Arg391=) c.1149C>G (p.Arg383=) c.1161C>G (p.Arg387=) | |
| 1 | g.16997024G>T | CA416062737 | ATP13A2 | c.1191C>A (p.Arg397=) c.1176C>A (p.Arg392=) n.799C>A n.330C>A c.351C>A (p.Arg117=) c.330C>A (p.Arg110=) c.1188C>A (p.Arg396=) c.1164C>A (p.Arg388=) c.1173C>A (p.Arg391=) c.1149C>A (p.Arg383=) c.1161C>A (p.Arg387=) | |
| 1 | g.16997025C>A | CA338254953 | ATP13A2 | c.1190G>T (p.Arg397Leu) c.1175G>T (p.Arg392Leu) n.798G>T n.329G>T c.350G>T (p.Arg117Leu) c.329G>T (p.Arg110Leu) c.1187G>T (p.Arg396Leu) c.1163G>T (p.Arg388Leu) c.1172G>T (p.Arg391Leu) c.1148G>T (p.Arg383Leu) c.1160G>T (p.Arg387Leu) | gnomAD v4 |
| 1 | g.16997025C= | CA1156032572 | ATP13A2 | c.1190G= (p.Arg397=) c.1175G= (p.Arg392=) n.798G= n.329G= c.350G= (p.Arg117=) c.329G= (p.Arg110=) c.1187G= (p.Arg396=) c.1163G= (p.Arg388=) c.1172G= (p.Arg391=) c.1148G= (p.Arg383=) c.1160G= (p.Arg387=) | |
| 1 | g.16997025C>G | CA338254954 | ATP13A2 | c.1190G>C (p.Arg397Pro) c.1175G>C (p.Arg392Pro) n.798G>C n.329G>C c.350G>C (p.Arg117Pro) c.329G>C (p.Arg110Pro) c.1187G>C (p.Arg396Pro) c.1163G>C (p.Arg388Pro) c.1172G>C (p.Arg391Pro) c.1148G>C (p.Arg383Pro) c.1160G>C (p.Arg387Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16997025C>T | CA637339 | ATP13A2 | c.1190G>A (p.Arg397His) c.1175G>A (p.Arg392His) n.798G>A n.329G>A c.350G>A (p.Arg117His) c.329G>A (p.Arg110His) c.1187G>A (p.Arg396His) c.1163G>A (p.Arg388His) c.1172G>A (p.Arg391His) c.1148G>A (p.Arg383His) c.1160G>A (p.Arg387His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16997026G>A | CA637340 | ATP13A2 | c.1189C>T (p.Arg397Cys) c.1174C>T (p.Arg392Cys) n.797C>T n.328C>T c.349C>T (p.Arg117Cys) c.328C>T (p.Arg110Cys) c.1186C>T (p.Arg396Cys) c.1162C>T (p.Arg388Cys) c.1171C>T (p.Arg391Cys) c.1147C>T (p.Arg383Cys) c.1159C>T (p.Arg387Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16997026G>C | CA338254955 | ATP13A2 | c.1189C>G (p.Arg397Gly) c.1174C>G (p.Arg392Gly) n.797C>G n.328C>G c.349C>G (p.Arg117Gly) c.328C>G (p.Arg110Gly) c.1186C>G (p.Arg396Gly) c.1162C>G (p.Arg388Gly) c.1171C>G (p.Arg391Gly) c.1147C>G (p.Arg383Gly) c.1159C>G (p.Arg387Gly) | |
| 1 | g.16997026G= | CA1148872598 | ATP13A2 | c.1189C= (p.Arg397=) c.1174C= (p.Arg392=) n.797C= n.328C= c.349C= (p.Arg117=) c.328C= (p.Arg110=) c.1186C= (p.Arg396=) c.1162C= (p.Arg388=) c.1171C= (p.Arg391=) c.1147C= (p.Arg383=) c.1159C= (p.Arg387=) | |
| 1 | g.16997026G>T | CA338254956 | ATP13A2 | c.1189C>A (p.Arg397Ser) c.1174C>A (p.Arg392Ser) n.797C>A n.328C>A c.349C>A (p.Arg117Ser) c.328C>A (p.Arg110Ser) c.1186C>A (p.Arg396Ser) c.1162C>A (p.Arg388Ser) c.1171C>A (p.Arg391Ser) c.1147C>A (p.Arg383Ser) c.1159C>A (p.Arg387Ser) | gnomAD v4 COSMIC COSMIC |
| 1 | g.16997027G>A | CA637341 | ATP13A2 | c.1188C>T (p.Thr396=) c.1173C>T (p.Thr391=) n.796C>T n.327C>T c.348C>T (p.Thr116=) c.327C>T (p.Thr109=) c.1185C>T (p.Thr395=) c.1161C>T (p.Thr387=) c.1170C>T (p.Thr390=) c.1146C>T (p.Thr382=) c.1158C>T (p.Thr386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16997027G>C | CA416062751 | ATP13A2 | c.1188C>G (p.Thr396=) c.1173C>G (p.Thr391=) n.796C>G n.327C>G c.348C>G (p.Thr116=) c.327C>G (p.Thr109=) c.1185C>G (p.Thr395=) c.1161C>G (p.Thr387=) c.1170C>G (p.Thr390=) c.1146C>G (p.Thr382=) c.1158C>G (p.Thr386=) | |
| 1 | g.16997027G= | CA1143637545 | ATP13A2 | c.1188C= (p.Thr396=) c.1173C= (p.Thr391=) n.796C= n.327C= c.348C= (p.Thr116=) c.327C= (p.Thr109=) c.1185C= (p.Thr395=) c.1161C= (p.Thr387=) c.1170C= (p.Thr390=) c.1146C= (p.Thr382=) c.1158C= (p.Thr386=) | |
| 1 | g.16997027G>T | CA416062758 | ATP13A2 | c.1188C>A (p.Thr396=) c.1173C>A (p.Thr391=) n.796C>A n.327C>A c.348C>A (p.Thr116=) c.327C>A (p.Thr109=) c.1185C>A (p.Thr395=) c.1161C>A (p.Thr387=) c.1170C>A (p.Thr390=) c.1146C>A (p.Thr382=) c.1158C>A (p.Thr386=) | |
| 1 | g.16997028G>A | CA338254958 | ATP13A2 | c.1187C>T (p.Thr396Ile) c.1172C>T (p.Thr391Ile) n.795C>T n.326C>T c.347C>T (p.Thr116Ile) c.326C>T (p.Thr109Ile) c.1184C>T (p.Thr395Ile) c.1160C>T (p.Thr387Ile) c.1169C>T (p.Thr390Ile) c.1145C>T (p.Thr382Ile) c.1157C>T (p.Thr386Ile) | |
| 1 | g.16997028G>C | CA338254957 | ATP13A2 | c.1187C>G (p.Thr396Ser) c.1172C>G (p.Thr391Ser) n.795C>G n.326C>G c.347C>G (p.Thr116Ser) c.326C>G (p.Thr109Ser) c.1184C>G (p.Thr395Ser) c.1160C>G (p.Thr387Ser) c.1169C>G (p.Thr390Ser) c.1145C>G (p.Thr382Ser) c.1157C>G (p.Thr386Ser) | |
| 1 | g.16997028G>T | CA338254959 | ATP13A2 | c.1187C>A (p.Thr396Asn) c.1172C>A (p.Thr391Asn) n.795C>A n.326C>A c.347C>A (p.Thr116Asn) c.326C>A (p.Thr109Asn) c.1184C>A (p.Thr395Asn) c.1160C>A (p.Thr387Asn) c.1169C>A (p.Thr390Asn) c.1145C>A (p.Thr382Asn) c.1157C>A (p.Thr386Asn) | |
| 1 | g.16997029T>A | CA338254960 | ATP13A2 | c.1186A>T (p.Thr396Ser) c.1171A>T (p.Thr391Ser) n.794A>T n.325A>T c.346A>T (p.Thr116Ser) c.325A>T (p.Thr109Ser) c.1183A>T (p.Thr395Ser) c.1159A>T (p.Thr387Ser) c.1168A>T (p.Thr390Ser) c.1144A>T (p.Thr382Ser) c.1156A>T (p.Thr386Ser) | |
| 1 | g.16997029T>C | CA338254962 | ATP13A2 | c.1186A>G (p.Thr396Ala) c.1171A>G (p.Thr391Ala) n.794A>G n.325A>G c.346A>G (p.Thr116Ala) c.325A>G (p.Thr109Ala) c.1183A>G (p.Thr395Ala) c.1159A>G (p.Thr387Ala) c.1168A>G (p.Thr390Ala) c.1144A>G (p.Thr382Ala) c.1156A>G (p.Thr386Ala) | |
| 1 | g.16997029T>G | CA338254961 | ATP13A2 | c.1186A>C (p.Thr396Pro) c.1171A>C (p.Thr391Pro) n.794A>C n.325A>C c.346A>C (p.Thr116Pro) c.325A>C (p.Thr109Pro) c.1183A>C (p.Thr395Pro) c.1159A>C (p.Thr387Pro) c.1168A>C (p.Thr390Pro) c.1144A>C (p.Thr382Pro) c.1156A>C (p.Thr386Pro) | |
| 1 | g.16997030C>A | CA416062783 | ATP13A2 | c.1185G>T (p.Val395=) c.1170G>T (p.Val390=) n.793G>T n.324G>T c.345G>T (p.Val115=) c.324G>T (p.Val108=) c.1182G>T (p.Val394=) c.1158G>T (p.Val386=) c.1167G>T (p.Val389=) c.1143G>T (p.Val381=) c.1155G>T (p.Val385=) | |
| 1 | g.16997030C>G | CA416062786 | ATP13A2 | c.1185G>C (p.Val395=) c.1170G>C (p.Val390=) n.793G>C n.324G>C c.345G>C (p.Val115=) c.324G>C (p.Val108=) c.1182G>C (p.Val394=) c.1158G>C (p.Val386=) c.1167G>C (p.Val389=) c.1143G>C (p.Val381=) c.1155G>C (p.Val385=) | |
| 1 | g.16997030C>T | CA416062789 | ATP13A2 | c.1185G>A (p.Val395=) c.1170G>A (p.Val390=) n.793G>A n.324G>A c.345G>A (p.Val115=) c.324G>A (p.Val108=) c.1182G>A (p.Val394=) c.1158G>A (p.Val386=) c.1167G>A (p.Val389=) c.1143G>A (p.Val381=) c.1155G>A (p.Val385=) | |
| 1 | g.16997031A>C | CA338254963 | ATP13A2 | c.1184T>G (p.Val395Gly) c.1169T>G (p.Val390Gly) n.792T>G n.323T>G c.344T>G (p.Val115Gly) c.323T>G (p.Val108Gly) c.1181T>G (p.Val394Gly) c.1157T>G (p.Val386Gly) c.1166T>G (p.Val389Gly) c.1142T>G (p.Val381Gly) c.1154T>G (p.Val385Gly) | |
| 1 | g.16997031A>G | CA338254964 | ATP13A2 | c.1184T>C (p.Val395Ala) c.1169T>C (p.Val390Ala) n.792T>C n.323T>C c.344T>C (p.Val115Ala) c.323T>C (p.Val108Ala) c.1181T>C (p.Val394Ala) c.1157T>C (p.Val386Ala) c.1166T>C (p.Val389Ala) c.1142T>C (p.Val381Ala) c.1154T>C (p.Val385Ala) | |
| 1 | g.16997031A>T | CA338254965 | ATP13A2 | c.1184T>A (p.Val395Glu) c.1169T>A (p.Val390Glu) n.792T>A n.323T>A c.344T>A (p.Val115Glu) c.323T>A (p.Val108Glu) c.1181T>A (p.Val394Glu) c.1157T>A (p.Val386Glu) c.1166T>A (p.Val389Glu) c.1142T>A (p.Val381Glu) c.1154T>A (p.Val385Glu) |