| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957037C>A | CA385216748 | PMEL | c.1266G>T (p.Glu422Asp) c.693G>T (p.Glu231Asp) c.802G>T n.235+71G>T c.359-1174G>T (n.359-1174G>T) c.1008G>T (p.Glu336Asp) c.1140G>T (p.Glu380Asp) | |
| 12 | g.55957037C= | CA2038181011 | PMEL | c.1266G= (p.Glu422=) c.693G= (p.Glu231=) c.802G= n.235+71G= c.359-1174G= (n.359-1174G=) c.1008G= (p.Glu336=) c.1140G= (p.Glu380=) | |
| 12 | g.55957037C>G | CA237590889 | PMEL | c.1266G>C (p.Glu422Asp) c.693G>C (p.Glu231Asp) c.802G>C n.235+71G>C c.359-1174G>C (n.359-1174G>C) c.1008G>C (p.Glu336Asp) c.1140G>C (p.Glu380Asp) | dbSNP |
| 12 | g.55957037C>T | CA480364736 | PMEL | c.1266G>A (p.Glu422=) c.693G>A (p.Glu231=) c.802G>A n.235+71G>A c.359-1174G>A (n.359-1174G>A) c.1008G>A (p.Glu336=) c.1140G>A (p.Glu380=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957038T>A | CA385216750 | PMEL | c.1265A>T (p.Glu422Val) c.692A>T (p.Glu231Val) c.801A>T n.235+70A>T c.359-1175A>T (n.359-1175A>T) c.1007A>T (p.Glu336Val) c.1139A>T (p.Glu380Val) | |
| 12 | g.55957038T>C | CA385216751 | PMEL | c.1265A>G (p.Glu422Gly) c.692A>G (p.Glu231Gly) c.801A>G n.235+70A>G c.359-1175A>G (n.359-1175A>G) c.1007A>G (p.Glu336Gly) c.1139A>G (p.Glu380Gly) | |
| 12 | g.55957038T>G | CA385216753 | PMEL | c.1265A>C (p.Glu422Ala) c.692A>C (p.Glu231Ala) c.801A>C n.235+70A>C c.359-1175A>C (n.359-1175A>C) c.1007A>C (p.Glu336Ala) c.1139A>C (p.Glu380Ala) | |
| 12 | g.55957039C>A | CA385216758 | PMEL | c.1264G>T (p.Glu422Ter) c.691G>T (p.Glu231Ter) c.800G>T n.235+69G>T c.359-1176G>T (n.359-1176G>T) c.1006G>T (p.Glu336Ter) c.1138G>T (p.Glu380Ter) | |
| 12 | g.55957039C= | CA2038181016 | PMEL | c.1264G= (p.Glu422=) c.691G= (p.Glu231=) c.800G= n.235+69G= c.359-1176G= (n.359-1176G=) c.1006G= (p.Glu336=) c.1138G= (p.Glu380=) | |
| 12 | g.55957039C>G | CA385216757 | PMEL | c.1264G>C (p.Glu422Gln) c.691G>C (p.Glu231Gln) c.800G>C n.235+69G>C c.359-1176G>C (n.359-1176G>C) c.1006G>C (p.Glu336Gln) c.1138G>C (p.Glu380Gln) | |
| 12 | g.55957039C>T | CA385216755 | PMEL | c.1264G>A (p.Glu422Lys) c.691G>A (p.Glu231Lys) c.800G>A n.235+69G>A c.359-1176G>A (n.359-1176G>A) c.1006G>A (p.Glu336Lys) c.1138G>A (p.Glu380Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957040T>A | CA480364737 | PMEL | c.1263A>T (p.Thr421=) c.690A>T (p.Thr230=) c.799A>T n.235+68A>T c.359-1177A>T (n.359-1177A>T) c.1005A>T (p.Thr335=) c.1137A>T (p.Thr379=) | |
| 12 | g.55957040T>C | CA480364738 | PMEL | c.1263A>G (p.Thr421=) c.690A>G (p.Thr230=) c.799A>G n.235+68A>G c.359-1177A>G (n.359-1177A>G) c.1005A>G (p.Thr335=) c.1137A>G (p.Thr379=) | |
| 12 | g.55957040T>G | CA480364739 | PMEL | c.1263A>C (p.Thr421=) c.690A>C (p.Thr230=) c.799A>C n.235+68A>C c.359-1177A>C (n.359-1177A>C) c.1005A>C (p.Thr335=) c.1137A>C (p.Thr379=) | dbSNP |
| 12 | g.55957040T= | CA2038181023 | PMEL | c.1263A= (p.Thr421=) c.690A= (p.Thr230=) c.799A= n.235+68A= c.359-1177A= (n.359-1177A=) c.1005A= (p.Thr335=) c.1137A= (p.Thr379=) | |
| 12 | g.55957041_55957042del | CA2619240920 | PMEL | c.1262_1263del (p.Thr421ArgfsTer8) c.689_690del (p.Thr230ArgfsTer8) c.798_799del n.235+67_235+68del c.359-1178_359-1177del (n.359-1178_359-1177del) c.1004_1005del (p.Thr335ArgfsTer8) c.1136_1137del (p.Thr379ArgfsTer8) | gnomAD v4 |
| 12 | g.55957041G>A | CA385216760 | PMEL | c.1262C>T (p.Thr421Ile) c.689C>T (p.Thr230Ile) c.798C>T n.235+67C>T c.359-1178C>T (n.359-1178C>T) c.1004C>T (p.Thr335Ile) c.1136C>T (p.Thr379Ile) | |
| 12 | g.55957041G>C | CA6620044 | PMEL | c.1262C>G (p.Thr421Arg) c.689C>G (p.Thr230Arg) c.798C>G n.235+67C>G c.359-1178C>G (n.359-1178C>G) c.1004C>G (p.Thr335Arg) c.1136C>G (p.Thr379Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957041G= | CA2038181029 | PMEL | c.1262C= (p.Thr421=) c.689C= (p.Thr230=) c.798C= n.235+67C= c.359-1178C= (n.359-1178C=) c.1004C= (p.Thr335=) c.1136C= (p.Thr379=) | |
| 12 | g.55957041G>T | CA385216761 | PMEL | c.1262C>A (p.Thr421Lys) c.689C>A (p.Thr230Lys) c.798C>A n.235+67C>A c.359-1178C>A (n.359-1178C>A) c.1004C>A (p.Thr335Lys) c.1136C>A (p.Thr379Lys) | |
| 12 | g.55957042T>A | CA385216762 | PMEL | c.1261A>T (p.Thr421Ser) c.688A>T (p.Thr230Ser) c.797A>T n.235+66A>T c.359-1179A>T (n.359-1179A>T) c.1003A>T (p.Thr335Ser) c.1135A>T (p.Thr379Ser) | |
| 12 | g.55957042T>C | CA385216764 | PMEL | c.1261A>G (p.Thr421Ala) c.688A>G (p.Thr230Ala) c.797A>G n.235+66A>G c.359-1179A>G (n.359-1179A>G) c.1003A>G (p.Thr335Ala) c.1135A>G (p.Thr379Ala) | gnomAD v4 |
| 12 | g.55957042T>G | CA385216766 | PMEL | c.1261A>C (p.Thr421Pro) c.688A>C (p.Thr230Pro) c.797A>C n.235+66A>C c.359-1179A>C (n.359-1179A>C) c.1003A>C (p.Thr335Pro) c.1135A>C (p.Thr379Pro) | |
| 12 | g.55957043A>C | CA480364740 | PMEL | c.1260T>G (p.Thr420=) c.687T>G (p.Thr229=) c.796T>G n.235+65T>G c.359-1180T>G (n.359-1180T>G) c.1002T>G (p.Thr334=) c.1134T>G (p.Thr378=) | |
| 12 | g.55957043A>G | CA480364741 | PMEL | c.1260T>C (p.Thr420=) c.687T>C (p.Thr229=) c.796T>C n.235+65T>C c.359-1180T>C (n.359-1180T>C) c.1002T>C (p.Thr334=) c.1134T>C (p.Thr378=) | |
| 12 | g.55957043A>T | CA480364742 | PMEL | c.1260T>A (p.Thr420=) c.687T>A (p.Thr229=) c.796T>A n.235+65T>A c.359-1180T>A (n.359-1180T>A) c.1002T>A (p.Thr334=) c.1134T>A (p.Thr378=) | |
| 12 | g.55957043_55957046delinsAGTT | CA2038181033 | PMEL | c.1257_1260delinsAACT (p.Thr419=) c.684_687delinsAACT (p.Thr228=) c.793_796delinsAACT n.235+62_235+65delinsAACT c.359-1183_359-1180delinsAACT (n.359-1183_359-1180delinsAACT) c.999_1002delinsAACT (p.Thr333=) c.1131_1134delinsAACT (p.Thr377=) | |
| 12 | g.55957044G>A | CA385216771 | PMEL | c.1259C>T (p.Thr420Ile) c.686C>T (p.Thr229Ile) c.795C>T n.235+64C>T c.359-1181C>T (n.359-1181C>T) c.1001C>T (p.Thr334Ile) c.1133C>T (p.Thr378Ile) | dbSNP gnomAD v2 |
| 12 | g.55957044G>C | CA385216768 | PMEL | c.1259C>G (p.Thr420Ser) c.686C>G (p.Thr229Ser) c.795C>G n.235+64C>G c.359-1181C>G (n.359-1181C>G) c.1001C>G (p.Thr334Ser) c.1133C>G (p.Thr378Ser) | |
| 12 | g.55957044G= | CA2038181036 | PMEL | c.1259C= (p.Thr420=) c.686C= (p.Thr229=) c.795C= n.235+64C= c.359-1181C= (n.359-1181C=) c.1001C= (p.Thr334=) c.1133C= (p.Thr378=) | |
| 12 | g.55957044G>T | CA385216770 | PMEL | c.1259C>A (p.Thr420Asn) c.686C>A (p.Thr229Asn) c.795C>A n.235+64C>A c.359-1181C>A (n.359-1181C>A) c.1001C>A (p.Thr334Asn) c.1133C>A (p.Thr378Asn) | |
| 12 | g.55957047_55957049del | CA6620045 | PMEL | c.1257_1259del (p.Thr420del) c.684_686del (p.Thr229del) c.793_795del n.235+62_235+64del c.359-1183_359-1181del (n.359-1183_359-1181del) c.999_1001del (p.Thr334del) c.1131_1133del (p.Thr378del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957045T>A | CA385216772 | PMEL | c.1258A>T (p.Thr420Ser) c.685A>T (p.Thr229Ser) c.794A>T n.235+63A>T c.359-1182A>T (n.359-1182A>T) c.1000A>T (p.Thr334Ser) c.1132A>T (p.Thr378Ser) | |
| 12 | g.55957045T>C | CA385216774 | PMEL | c.1258A>G (p.Thr420Ala) c.685A>G (p.Thr229Ala) c.794A>G n.235+63A>G c.359-1182A>G (n.359-1182A>G) c.1000A>G (p.Thr334Ala) c.1132A>G (p.Thr378Ala) | |
| 12 | g.55957045T>G | CA385216775 | PMEL | c.1258A>C (p.Thr420Pro) c.685A>C (p.Thr229Pro) c.794A>C n.235+63A>C c.359-1182A>C (n.359-1182A>C) c.1000A>C (p.Thr334Pro) c.1132A>C (p.Thr378Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957045T= | CA2038181039 | PMEL | c.1258A= (p.Thr420=) c.685A= (p.Thr229=) c.794A= n.235+63A= c.359-1182A= (n.359-1182A=) c.1000A= (p.Thr334=) c.1132A= (p.Thr378=) | |
| 12 | g.55957046T>A | CA480364745 | PMEL | c.1257A>T (p.Thr419=) c.684A>T (p.Thr228=) c.793A>T n.235+62A>T c.359-1183A>T (n.359-1183A>T) c.999A>T (p.Thr333=) c.1131A>T (p.Thr377=) | |
| 12 | g.55957046T>C | CA480364743 | PMEL | c.1257A>G (p.Thr419=) c.684A>G (p.Thr228=) c.793A>G n.235+62A>G c.359-1183A>G (n.359-1183A>G) c.999A>G (p.Thr333=) c.1131A>G (p.Thr377=) | |
| 12 | g.55957046T>G | CA480364744 | PMEL | c.1257A>C (p.Thr419=) c.684A>C (p.Thr228=) c.793A>C n.235+62A>C c.359-1183A>C (n.359-1183A>C) c.999A>C (p.Thr333=) c.1131A>C (p.Thr377=) | gnomAD v4 |
| 12 | g.55957047G>A | CA385216777 | PMEL | c.1256C>T (p.Thr419Ile) c.683C>T (p.Thr228Ile) c.792C>T n.235+61C>T c.359-1184C>T (n.359-1184C>T) c.998C>T (p.Thr333Ile) c.1130C>T (p.Thr377Ile) | |
| 12 | g.55957047G>C | CA385216779 | PMEL | c.1256C>G (p.Thr419Arg) c.683C>G (p.Thr228Arg) c.792C>G n.235+61C>G c.359-1184C>G (n.359-1184C>G) c.998C>G (p.Thr333Arg) c.1130C>G (p.Thr377Arg) | |
| 12 | g.55957047G= | CA2038181040 | PMEL | c.1256C= (p.Thr419=) c.683C= (p.Thr228=) c.792C= n.235+61C= c.359-1184C= (n.359-1184C=) c.998C= (p.Thr333=) c.1130C= (p.Thr377=) | |
| 12 | g.55957047G>T | CA6620046 | PMEL | c.1256C>A (p.Thr419Lys) c.683C>A (p.Thr228Lys) c.792C>A n.235+61C>A c.359-1184C>A (n.359-1184C>A) c.998C>A (p.Thr333Lys) c.1130C>A (p.Thr377Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957048T>A | CA385216781 | PMEL | c.1255A>T (p.Thr419Ser) c.682A>T (p.Thr228Ser) c.791A>T n.235+60A>T c.359-1185A>T (n.359-1185A>T) c.997A>T (p.Thr333Ser) c.1129A>T (p.Thr377Ser) | |
| 12 | g.55957048T>C | CA385216783 | PMEL | c.1255A>G (p.Thr419Ala) c.682A>G (p.Thr228Ala) c.791A>G n.235+60A>G c.359-1185A>G (n.359-1185A>G) c.997A>G (p.Thr333Ala) c.1129A>G (p.Thr377Ala) | |
| 12 | g.55957048T>G | CA385216784 | PMEL | c.1255A>C (p.Thr419Pro) c.682A>C (p.Thr228Pro) c.791A>C n.235+60A>C c.359-1185A>C (n.359-1185A>C) c.997A>C (p.Thr333Pro) c.1129A>C (p.Thr377Pro) | |
| 12 | g.55957049T>A | CA480364747 | PMEL | c.1254A>T (p.Val418=) c.681A>T (p.Val227=) c.790A>T n.235+59A>T c.359-1186A>T (n.359-1186A>T) c.996A>T (p.Val332=) c.1128A>T (p.Val376=) | |
| 12 | g.55957049T>C | CA480364748 | PMEL | c.1254A>G (p.Val418=) c.681A>G (p.Val227=) c.790A>G n.235+59A>G c.359-1186A>G (n.359-1186A>G) c.996A>G (p.Val332=) c.1128A>G (p.Val376=) | |
| 12 | g.55957049T>G | CA480364749 | PMEL | c.1254A>C (p.Val418=) c.681A>C (p.Val227=) c.790A>C n.235+59A>C c.359-1186A>C (n.359-1186A>C) c.996A>C (p.Val332=) c.1128A>C (p.Val376=) | |
| 12 | g.55957050A>C | CA385216787 | PMEL | c.1253T>G (p.Val418Gly) c.680T>G (p.Val227Gly) c.789T>G n.235+58T>G c.359-1187T>G (n.359-1187T>G) c.995T>G (p.Val332Gly) c.1127T>G (p.Val376Gly) |