UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957001A>C | CA480364684 | PMEL | c.1302T>G (p.Pro434=) c.729T>G (p.Pro243=) c.838T>G n.235+107T>G c.359-1138T>G (n.359-1138T>G) c.1044T>G (p.Pro348=) c.1176T>G (p.Pro392=) | gnomAD v4 |
| 12 | g.55957001A>G | CA480364686 | PMEL | c.1302T>C (p.Pro434=) c.729T>C (p.Pro243=) c.838T>C n.235+107T>C c.359-1138T>C (n.359-1138T>C) c.1044T>C (p.Pro348=) c.1176T>C (p.Pro392=) | |
| 12 | g.55957001A>T | CA480364687 | PMEL | c.1302T>A (p.Pro434=) c.729T>A (p.Pro243=) c.838T>A n.235+107T>A c.359-1138T>A (n.359-1138T>A) c.1044T>A (p.Pro348=) c.1176T>A (p.Pro392=) | |
| 12 | g.55957002G>A | CA385216625 | PMEL | c.1301C>T (p.Pro434Leu) c.728C>T (p.Pro243Leu) c.837C>T n.235+106C>T c.359-1139C>T (n.359-1139C>T) c.1043C>T (p.Pro348Leu) c.1175C>T (p.Pro392Leu) | |
| 12 | g.55957002G>C | CA385216623 | PMEL | c.1301C>G (p.Pro434Arg) c.728C>G (p.Pro243Arg) c.837C>G n.235+106C>G c.359-1139C>G (n.359-1139C>G) c.1043C>G (p.Pro348Arg) c.1175C>G (p.Pro392Arg) | |
| 12 | g.55957002G>T | CA385216624 | PMEL | c.1301C>A (p.Pro434His) c.728C>A (p.Pro243His) c.837C>A n.235+106C>A c.359-1139C>A (n.359-1139C>A) c.1043C>A (p.Pro348His) c.1175C>A (p.Pro392His) | |
| 12 | g.55957003G>A | CA385216627 | PMEL | c.1300C>T (p.Pro434Ser) c.727C>T (p.Pro243Ser) c.836C>T n.235+105C>T c.359-1140C>T (n.359-1140C>T) c.1042C>T (p.Pro348Ser) c.1174C>T (p.Pro392Ser) | COSMIC COSMIC |
| 12 | g.55957003G>C | CA6620038 | PMEL | c.1300C>G (p.Pro434Ala) c.727C>G (p.Pro243Ala) c.836C>G n.235+105C>G c.359-1140C>G (n.359-1140C>G) c.1042C>G (p.Pro348Ala) c.1174C>G (p.Pro392Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957003G= | CA2038180961 | PMEL | c.1300C= (p.Pro434=) c.727C= (p.Pro243=) c.836C= n.235+105C= c.359-1140C= (n.359-1140C=) c.1042C= (p.Pro348=) c.1174C= (p.Pro392=) | |
| 12 | g.55957003G>T | CA385216629 | PMEL | c.1300C>A (p.Pro434Thr) c.727C>A (p.Pro243Thr) c.836C>A n.235+105C>A c.359-1140C>A (n.359-1140C>A) c.1042C>A (p.Pro348Thr) c.1174C>A (p.Pro392Thr) | |
| 12 | g.55957004G>A | CA480364690 | PMEL | c.1299C>T (p.Ile433=) c.726C>T (p.Ile242=) c.835C>T n.235+104C>T c.359-1141C>T (n.359-1141C>T) c.1041C>T (p.Ile347=) c.1173C>T (p.Ile391=) | gnomAD v4 |
| 12 | g.55957004G>C | CA385216631 | PMEL | c.1299C>G (p.Ile433Met) c.726C>G (p.Ile242Met) c.835C>G n.235+104C>G c.359-1141C>G (n.359-1141C>G) c.1041C>G (p.Ile347Met) c.1173C>G (p.Ile391Met) | gnomAD v4 |
| 12 | g.55957004G>T | CA480364688 | PMEL | c.1299C>A (p.Ile433=) c.726C>A (p.Ile242=) c.835C>A n.235+104C>A c.359-1141C>A (n.359-1141C>A) c.1041C>A (p.Ile347=) c.1173C>A (p.Ile391=) | |
| 12 | g.55957005A= | CA2038180964 | PMEL | c.1298T= (p.Ile433=) c.725T= (p.Ile242=) c.834T= n.235+103T= c.359-1142T= (n.359-1142T=) c.1040T= (p.Ile347=) c.1172T= (p.Ile391=) | |
| 12 | g.55957005A>C | CA385216633 | PMEL | c.1298T>G (p.Ile433Ser) c.725T>G (p.Ile242Ser) c.834T>G n.235+103T>G c.359-1142T>G (n.359-1142T>G) c.1040T>G (p.Ile347Ser) c.1172T>G (p.Ile391Ser) | |
| 12 | g.55957005A>G | CA385216635 | PMEL | c.1298T>C (p.Ile433Thr) c.725T>C (p.Ile242Thr) c.834T>C n.235+103T>C c.359-1142T>C (n.359-1142T>C) c.1040T>C (p.Ile347Thr) c.1172T>C (p.Ile391Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957005A>T | CA385216636 | PMEL | c.1298T>A (p.Ile433Asn) c.725T>A (p.Ile242Asn) c.834T>A n.235+103T>A c.359-1142T>A (n.359-1142T>A) c.1040T>A (p.Ile347Asn) c.1172T>A (p.Ile391Asn) | |
| 12 | g.55957006T>A | CA385216637 | PMEL | c.1297A>T (p.Ile433Phe) c.724A>T (p.Ile242Phe) c.833A>T n.235+102A>T c.359-1143A>T (n.359-1143A>T) c.1039A>T (p.Ile347Phe) c.1171A>T (p.Ile391Phe) | |
| 12 | g.55957006T>C | CA385216638 | PMEL | c.1297A>G (p.Ile433Val) c.724A>G (p.Ile242Val) c.833A>G n.235+102A>G c.359-1143A>G (n.359-1143A>G) c.1039A>G (p.Ile347Val) c.1171A>G (p.Ile391Val) | |
| 12 | g.55957006T>G | CA385216641 | PMEL | c.1297A>C (p.Ile433Leu) c.724A>C (p.Ile242Leu) c.833A>C n.235+102A>C c.359-1143A>C (n.359-1143A>C) c.1039A>C (p.Ile347Leu) c.1171A>C (p.Ile391Leu) | |
| 12 | g.55957007A>C | CA480364695 | PMEL | c.1296T>G (p.Pro432=) c.723T>G (p.Pro241=) c.832T>G n.235+101T>G c.359-1144T>G (n.359-1144T>G) c.1038T>G (p.Pro346=) c.1170T>G (p.Pro390=) | |
| 12 | g.55957007A>G | CA480364696 | PMEL | c.1296T>C (p.Pro432=) c.723T>C (p.Pro241=) c.832T>C n.235+101T>C c.359-1144T>C (n.359-1144T>C) c.1038T>C (p.Pro346=) c.1170T>C (p.Pro390=) | |
| 12 | g.55957007A>T | CA480364697 | PMEL | c.1296T>A (p.Pro432=) c.723T>A (p.Pro241=) c.832T>A n.235+101T>A c.359-1144T>A (n.359-1144T>A) c.1038T>A (p.Pro346=) c.1170T>A (p.Pro390=) | |
| 12 | g.55957007_55957008delinsAG | CA2038180967 | PMEL | c.1295_1296delinsCT (p.Pro432=) c.722_723delinsCT (p.Pro241=) c.831_832delinsCT n.235+100_235+101delinsCT c.359-1145_359-1144delinsCT (n.359-1145_359-1144delinsCT) c.1037_1038delinsCT (p.Pro346=) c.1169_1170delinsCT (p.Pro390=) | |
| 12 | g.55957008G>A | CA385216644 | PMEL | c.1295C>T (p.Pro432Leu) c.722C>T (p.Pro241Leu) c.831C>T n.235+100C>T c.359-1145C>T (n.359-1145C>T) c.1037C>T (p.Pro346Leu) c.1169C>T (p.Pro390Leu) | |
| 12 | g.55957008G>C | CA385216646 | PMEL | c.1295C>G (p.Pro432Arg) c.722C>G (p.Pro241Arg) c.831C>G n.235+100C>G c.359-1145C>G (n.359-1145C>G) c.1037C>G (p.Pro346Arg) c.1169C>G (p.Pro390Arg) | |
| 12 | g.55957008G>T | CA385216643 | PMEL | c.1295C>A (p.Pro432His) c.722C>A (p.Pro241His) c.831C>A n.235+100C>A c.359-1145C>A (n.359-1145C>A) c.1037C>A (p.Pro346His) c.1169C>A (p.Pro390His) | |
| 12 | g.55957009del | CA6620039 | PMEL | c.1295del (p.Pro432LeufsTer?) c.722del (p.Pro241LeufsTer?) c.831del n.235+100del c.359-1145del (n.359-1145del) c.1037del (p.Pro346LeufsTer?) c.1169del (p.Pro390LeufsTer?) | dbSNP ExAC gnomAD v2 |
| 12 | g.55957009G>A | CA6620040 | PMEL | c.1294C>T (p.Pro432Ser) c.721C>T (p.Pro241Ser) c.830C>T n.235+99C>T c.359-1146C>T (n.359-1146C>T) c.1036C>T (p.Pro346Ser) c.1168C>T (p.Pro390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957009G>C | CA385216649 | PMEL | c.1294C>G (p.Pro432Ala) c.721C>G (p.Pro241Ala) c.830C>G n.235+99C>G c.359-1146C>G (n.359-1146C>G) c.1036C>G (p.Pro346Ala) c.1168C>G (p.Pro390Ala) | gnomAD v4 |
| 12 | g.55957009G= | CA2038180975 | PMEL | c.1294C= (p.Pro432=) c.721C= (p.Pro241=) c.830C= n.235+99C= c.359-1146C= (n.359-1146C=) c.1036C= (p.Pro346=) c.1168C= (p.Pro390=) | |
| 12 | g.55957009G>T | CA385216650 | PMEL | c.1294C>A (p.Pro432Thr) c.721C>A (p.Pro241Thr) c.830C>A n.235+99C>A c.359-1146C>A (n.359-1146C>A) c.1036C>A (p.Pro346Thr) c.1168C>A (p.Pro390Thr) | |
| 12 | g.55957010T>A | CA480364702 | PMEL | c.1293A>T (p.Leu431=) c.720A>T (p.Leu240=) c.829A>T n.235+98A>T c.359-1147A>T (n.359-1147A>T) c.1035A>T (p.Leu345=) c.1167A>T (p.Leu389=) | |
| 12 | g.55957010T>C | CA480364704 | PMEL | c.1293A>G (p.Leu431=) c.720A>G (p.Leu240=) c.829A>G n.235+98A>G c.359-1147A>G (n.359-1147A>G) c.1035A>G (p.Leu345=) c.1167A>G (p.Leu389=) | |
| 12 | g.55957010T>G | CA480364703 | PMEL | c.1293A>C (p.Leu431=) c.720A>C (p.Leu240=) c.829A>C n.235+98A>C c.359-1147A>C (n.359-1147A>C) c.1035A>C (p.Leu345=) c.1167A>C (p.Leu389=) | |
| 12 | g.55957011A>C | CA385216653 | PMEL | c.1292T>G (p.Leu431Arg) c.719T>G (p.Leu240Arg) c.828T>G n.235+97T>G c.359-1148T>G (n.359-1148T>G) c.1034T>G (p.Leu345Arg) c.1166T>G (p.Leu389Arg) | |
| 12 | g.55957011A>G | CA385216655 | PMEL | c.1292T>C (p.Leu431Pro) c.719T>C (p.Leu240Pro) c.828T>C n.235+97T>C c.359-1148T>C (n.359-1148T>C) c.1034T>C (p.Leu345Pro) c.1166T>C (p.Leu389Pro) | |
| 12 | g.55957011A>T | CA385216656 | PMEL | c.1292T>A (p.Leu431Gln) c.719T>A (p.Leu240Gln) c.828T>A n.235+97T>A c.359-1148T>A (n.359-1148T>A) c.1034T>A (p.Leu345Gln) c.1166T>A (p.Leu389Gln) | |
| 12 | g.55957012G>A | CA480364707 | PMEL | c.1291C>T (p.Leu431=) c.718C>T (p.Leu240=) c.827C>T n.235+96C>T c.359-1149C>T (n.359-1149C>T) c.1033C>T (p.Leu345=) c.1165C>T (p.Leu389=) | |
| 12 | g.55957012G>C | CA385216658 | PMEL | c.1291C>G (p.Leu431Val) c.718C>G (p.Leu240Val) c.827C>G n.235+96C>G c.359-1149C>G (n.359-1149C>G) c.1033C>G (p.Leu345Val) c.1165C>G (p.Leu389Val) | |
| 12 | g.55957012G>T | CA385216659 | PMEL | c.1291C>A (p.Leu431Ile) c.718C>A (p.Leu240Ile) c.827C>A n.235+96C>A c.359-1149C>A (n.359-1149C>A) c.1033C>A (p.Leu345Ile) c.1165C>A (p.Leu389Ile) | |
| 12 | g.55957013C>A | CA385216661 | PMEL | c.1290G>T (p.Glu430Asp) c.717G>T (p.Glu239Asp) c.826G>T n.235+95G>T c.359-1150G>T (n.359-1150G>T) c.1032G>T (p.Glu344Asp) c.1164G>T (p.Glu388Asp) | |
| 12 | g.55957013C= | CA2038180979 | PMEL | c.1290G= (p.Glu430=) c.717G= (p.Glu239=) c.826G= n.235+95G= c.359-1150G= (n.359-1150G=) c.1032G= (p.Glu344=) c.1164G= (p.Glu388=) | |
| 12 | g.55957013C>G | CA385216663 | PMEL | c.1290G>C (p.Glu430Asp) c.717G>C (p.Glu239Asp) c.826G>C n.235+95G>C c.359-1150G>C (n.359-1150G>C) c.1032G>C (p.Glu344Asp) c.1164G>C (p.Glu388Asp) | |
| 12 | g.55957013C>T | CA480364712 | PMEL | c.1290G>A (p.Glu430=) c.717G>A (p.Glu239=) c.826G>A n.235+95G>A c.359-1150G>A (n.359-1150G>A) c.1032G>A (p.Glu344=) c.1164G>A (p.Glu388=) | dbSNP |
| 12 | g.55957014T>A | CA385216664 | PMEL | c.1289A>T (p.Glu430Val) c.716A>T (p.Glu239Val) c.825A>T n.235+94A>T c.359-1151A>T (n.359-1151A>T) c.1031A>T (p.Glu344Val) c.1163A>T (p.Glu388Val) | |
| 12 | g.55957014T>C | CA385216668 | PMEL | c.1289A>G (p.Glu430Gly) c.716A>G (p.Glu239Gly) c.825A>G n.235+94A>G c.359-1151A>G (n.359-1151A>G) c.1031A>G (p.Glu344Gly) c.1163A>G (p.Glu388Gly) | |
| 12 | g.55957014T>G | CA385216669 | PMEL | c.1289A>C (p.Glu430Ala) c.716A>C (p.Glu239Ala) c.825A>C n.235+94A>C c.359-1151A>C (n.359-1151A>C) c.1031A>C (p.Glu344Ala) c.1163A>C (p.Glu388Ala) | |
| 12 | g.55957015C>A | CA385216671 | PMEL | c.1288G>T (p.Glu430Ter) c.715G>T (p.Glu239Ter) c.824G>T n.235+93G>T c.359-1152G>T (n.359-1152G>T) c.1030G>T (p.Glu344Ter) c.1162G>T (p.Glu388Ter) | |
| 12 | g.55957015C= | CA2038180981 | PMEL | c.1288G= (p.Glu430=) c.715G= (p.Glu239=) c.824G= n.235+93G= c.359-1152G= (n.359-1152G=) c.1030G= (p.Glu344=) c.1162G= (p.Glu388=) | |
| 12 | g.55957015C>G | CA385216670 | PMEL | c.1288G>C (p.Glu430Gln) c.715G>C (p.Glu239Gln) c.824G>C n.235+93G>C c.359-1152G>C (n.359-1152G>C) c.1030G>C (p.Glu344Gln) c.1162G>C (p.Glu388Gln) | dbSNP |
| 12 | g.55957015C>T | CA6620041 | PMEL | c.1288G>A (p.Glu430Lys) c.715G>A (p.Glu239Lys) c.824G>A n.235+93G>A c.359-1152G>A (n.359-1152G>A) c.1030G>A (p.Glu344Lys) c.1162G>A (p.Glu388Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957016T>A | CA385216672 | PMEL | c.1287A>T (p.Arg429Ser) c.714A>T (p.Arg238Ser) c.823A>T n.235+92A>T c.359-1153A>T (n.359-1153A>T) c.1029A>T (p.Arg343Ser) c.1161A>T (p.Arg387Ser) | |
| 12 | g.55957016T>C | CA480364716 | PMEL | c.1287A>G (p.Arg429=) c.714A>G (p.Arg238=) c.823A>G n.235+92A>G c.359-1153A>G (n.359-1153A>G) c.1029A>G (p.Arg343=) c.1161A>G (p.Arg387=) | |
| 12 | g.55957016T>G | CA385216674 | PMEL | c.1287A>C (p.Arg429Ser) c.714A>C (p.Arg238Ser) c.823A>C n.235+92A>C c.359-1153A>C (n.359-1153A>C) c.1029A>C (p.Arg343Ser) c.1161A>C (p.Arg387Ser) | |
| 12 | g.55957016_55957017insA | CA2619240889 | PMEL | c.1286_1287insT (p.Arg429SerfsTer7) c.713_714insT (p.Arg238SerfsTer7) c.822_823insT n.235+91_235+92insT c.359-1154_359-1153insT (n.359-1154_359-1153insT) c.1028_1029insT (p.Arg343SerfsTer7) c.1160_1161insT (p.Arg387SerfsTer7) | gnomAD v4 |
| 12 | g.55957017C>A | CA385216676 | PMEL | c.1286G>T (p.Arg429Ile) c.713G>T (p.Arg238Ile) c.822G>T n.235+91G>T c.359-1154G>T (n.359-1154G>T) c.1028G>T (p.Arg343Ile) c.1160G>T (p.Arg387Ile) | |
| 12 | g.55957017C= | CA2038180987 | PMEL | c.1286G= (p.Arg429=) c.713G= (p.Arg238=) c.822G= n.235+91G= c.359-1154G= (n.359-1154G=) c.1028G= (p.Arg343=) c.1160G= (p.Arg387=) | |
| 12 | g.55957017C>G | CA385216678 | PMEL | c.1286G>C (p.Arg429Thr) c.713G>C (p.Arg238Thr) c.822G>C n.235+91G>C c.359-1154G>C (n.359-1154G>C) c.1028G>C (p.Arg343Thr) c.1160G>C (p.Arg387Thr) | |
| 12 | g.55957017C>T | CA385216679 | PMEL | c.1286G>A (p.Arg429Lys) c.713G>A (p.Arg238Lys) c.822G>A n.235+91G>A c.359-1154G>A (n.359-1154G>A) c.1028G>A (p.Arg343Lys) c.1160G>A (p.Arg387Lys) | dbSNP |
| 12 | g.55957018T>A | CA385216680 | PMEL | c.1285A>T (p.Arg429Ter) c.712A>T (p.Arg238Ter) c.821A>T n.235+90A>T c.359-1155A>T (n.359-1155A>T) c.1027A>T (p.Arg343Ter) c.1159A>T (p.Arg387Ter) | |
| 12 | g.55957018T>C | CA385216681 | PMEL | c.1285A>G (p.Arg429Gly) c.712A>G (p.Arg238Gly) c.821A>G n.235+90A>G c.359-1155A>G (n.359-1155A>G) c.1027A>G (p.Arg343Gly) c.1159A>G (p.Arg387Gly) | |
| 12 | g.55957018T>G | CA480364717 | PMEL | c.1285A>C (p.Arg429=) c.712A>C (p.Arg238=) c.821A>C n.235+90A>C c.359-1155A>C (n.359-1155A>C) c.1027A>C (p.Arg343=) c.1159A>C (p.Arg387=) | |
| 12 | g.55957019A>C | CA480364718 | PMEL | c.1284T>G (p.Ala428=) c.711T>G (p.Ala237=) c.820T>G n.235+89T>G c.359-1156T>G (n.359-1156T>G) c.1026T>G (p.Ala342=) c.1158T>G (p.Ala386=) | |
| 12 | g.55957019A>G | CA480364719 | PMEL | c.1284T>C (p.Ala428=) c.711T>C (p.Ala237=) c.820T>C n.235+89T>C c.359-1156T>C (n.359-1156T>C) c.1026T>C (p.Ala342=) c.1158T>C (p.Ala386=) | gnomAD v4 |
| 12 | g.55957019A>T | CA480364720 | PMEL | c.1284T>A (p.Ala428=) c.711T>A (p.Ala237=) c.820T>A n.235+89T>A c.359-1156T>A (n.359-1156T>A) c.1026T>A (p.Ala342=) c.1158T>A (p.Ala386=) | |
| 12 | g.55957020G>A | CA385216682 | PMEL | c.1283C>T (p.Ala428Val) c.710C>T (p.Ala237Val) c.819C>T n.235+88C>T c.359-1157C>T (n.359-1157C>T) c.1025C>T (p.Ala342Val) c.1157C>T (p.Ala386Val) | |
| 12 | g.55957020G>C | CA385216683 | PMEL | c.1283C>G (p.Ala428Gly) c.710C>G (p.Ala237Gly) c.819C>G n.235+88C>G c.359-1157C>G (n.359-1157C>G) c.1025C>G (p.Ala342Gly) c.1157C>G (p.Ala386Gly) | |
| 12 | g.55957020G>T | CA385216684 | PMEL | c.1283C>A (p.Ala428Asp) c.710C>A (p.Ala237Asp) c.819C>A n.235+88C>A c.359-1157C>A (n.359-1157C>A) c.1025C>A (p.Ala342Asp) c.1157C>A (p.Ala386Asp) | gnomAD v4 |
| 12 | g.55957021C>A | CA385216686 | PMEL | c.1282G>T (p.Ala428Ser) c.709G>T (p.Ala237Ser) c.818G>T n.235+87G>T c.359-1158G>T (n.359-1158G>T) c.1024G>T (p.Ala342Ser) c.1156G>T (p.Ala386Ser) | |
| 12 | g.55957021C= | CA2038180992 | PMEL | c.1282G= (p.Ala428=) c.709G= (p.Ala237=) c.818G= n.235+87G= c.359-1158G= (n.359-1158G=) c.1024G= (p.Ala342=) c.1156G= (p.Ala386=) | |
| 12 | g.55957021C>G | CA6620042 | PMEL | c.1282G>C (p.Ala428Pro) c.709G>C (p.Ala237Pro) c.818G>C n.235+87G>C c.359-1158G>C (n.359-1158G>C) c.1024G>C (p.Ala342Pro) c.1156G>C (p.Ala386Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957021C>T | CA385216690 | PMEL | c.1282G>A (p.Ala428Thr) c.709G>A (p.Ala237Thr) c.818G>A n.235+87G>A c.359-1158G>A (n.359-1158G>A) c.1024G>A (p.Ala342Thr) c.1156G>A (p.Ala386Thr) | |
| 12 | g.55957022T>A | CA480364722 | PMEL | c.1281A>T (p.Thr427=) c.708A>T (p.Thr236=) c.817A>T n.235+86A>T c.359-1159A>T (n.359-1159A>T) c.1023A>T (p.Thr341=) c.1155A>T (p.Thr385=) | |
| 12 | g.55957022T>C | CA480364723 | PMEL | c.1281A>G (p.Thr427=) c.708A>G (p.Thr236=) c.817A>G n.235+86A>G c.359-1159A>G (n.359-1159A>G) c.1023A>G (p.Thr341=) c.1155A>G (p.Thr385=) | |
| 12 | g.55957022T>G | CA480364724 | PMEL | c.1281A>C (p.Thr427=) c.708A>C (p.Thr236=) c.817A>C n.235+86A>C c.359-1159A>C (n.359-1159A>C) c.1023A>C (p.Thr341=) c.1155A>C (p.Thr385=) | |
| 12 | g.55957023G>A | CA385216695 | PMEL | c.1280C>T (p.Thr427Ile) c.707C>T (p.Thr236Ile) c.816C>T n.235+85C>T c.359-1160C>T (n.359-1160C>T) c.1022C>T (p.Thr341Ile) c.1154C>T (p.Thr385Ile) | gnomAD v4 |
| 12 | g.55957023G>C | CA385216692 | PMEL | c.1280C>G (p.Thr427Arg) c.707C>G (p.Thr236Arg) c.816C>G n.235+85C>G c.359-1160C>G (n.359-1160C>G) c.1022C>G (p.Thr341Arg) c.1154C>G (p.Thr385Arg) | |
| 12 | g.55957023G>T | CA385216694 | PMEL | c.1280C>A (p.Thr427Lys) c.707C>A (p.Thr236Lys) c.816C>A n.235+85C>A c.359-1160C>A (n.359-1160C>A) c.1022C>A (p.Thr341Lys) c.1154C>A (p.Thr385Lys) | |
| 12 | g.55957024T>A | CA385216697 | PMEL | c.1279A>T (p.Thr427Ser) c.706A>T (p.Thr236Ser) c.815A>T n.235+84A>T c.359-1161A>T (n.359-1161A>T) c.1021A>T (p.Thr341Ser) c.1153A>T (p.Thr385Ser) | |
| 12 | g.55957024T>C | CA385216699 | PMEL | c.1279A>G (p.Thr427Ala) c.706A>G (p.Thr236Ala) c.815A>G n.235+84A>G c.359-1161A>G (n.359-1161A>G) c.1021A>G (p.Thr341Ala) c.1153A>G (p.Thr385Ala) | |
| 12 | g.55957024T>G | CA385216700 | PMEL | c.1279A>C (p.Thr427Pro) c.706A>C (p.Thr236Pro) c.815A>C n.235+84A>C c.359-1161A>C (n.359-1161A>C) c.1021A>C (p.Thr341Pro) c.1153A>C (p.Thr385Pro) | |
| 12 | g.55957025G>A | CA480364727 | PMEL | c.1278C>T (p.Thr426=) c.705C>T (p.Thr235=) c.814C>T n.235+83C>T c.359-1162C>T (n.359-1162C>T) c.1020C>T (p.Thr340=) c.1152C>T (p.Thr384=) | |
| 12 | g.55957025G>C | CA480364725 | PMEL | c.1278C>G (p.Thr426=) c.705C>G (p.Thr235=) c.814C>G n.235+83C>G c.359-1162C>G (n.359-1162C>G) c.1020C>G (p.Thr340=) c.1152C>G (p.Thr384=) | |
| 12 | g.55957025G>T | CA480364726 | PMEL | c.1278C>A (p.Thr426=) c.705C>A (p.Thr235=) c.814C>A n.235+83C>A c.359-1162C>A (n.359-1162C>A) c.1020C>A (p.Thr340=) c.1152C>A (p.Thr384=) | |
| 12 | g.55957026G>A | CA385216702 | PMEL | c.1277C>T (p.Thr426Ile) c.704C>T (p.Thr235Ile) c.813C>T n.235+82C>T c.359-1163C>T (n.359-1163C>T) c.1019C>T (p.Thr340Ile) c.1151C>T (p.Thr384Ile) | |
| 12 | g.55957026G>C | CA385216704 | PMEL | c.1277C>G (p.Thr426Ser) c.704C>G (p.Thr235Ser) c.813C>G n.235+82C>G c.359-1163C>G (n.359-1163C>G) c.1019C>G (p.Thr340Ser) c.1151C>G (p.Thr384Ser) | |
| 12 | g.55957026G>T | CA385216706 | PMEL | c.1277C>A (p.Thr426Asn) c.704C>A (p.Thr235Asn) c.813C>A n.235+82C>A c.359-1163C>A (n.359-1163C>A) c.1019C>A (p.Thr340Asn) c.1151C>A (p.Thr384Asn) | |
| 12 | g.55957027T>A | CA385216710 | PMEL | c.1276A>T (p.Thr426Ser) c.703A>T (p.Thr235Ser) c.812A>T n.235+81A>T c.359-1164A>T (n.359-1164A>T) c.1018A>T (p.Thr340Ser) c.1150A>T (p.Thr384Ser) | |
| 12 | g.55957027T>C | CA385216708 | PMEL | c.1276A>G (p.Thr426Ala) c.703A>G (p.Thr235Ala) c.812A>G n.235+81A>G c.359-1164A>G (n.359-1164A>G) c.1018A>G (p.Thr340Ala) c.1150A>G (p.Thr384Ala) | |
| 12 | g.55957027T>G | CA385216709 | PMEL | c.1276A>C (p.Thr426Pro) c.703A>C (p.Thr235Pro) c.812A>C n.235+81A>C c.359-1164A>C (n.359-1164A>C) c.1018A>C (p.Thr340Pro) c.1150A>C (p.Thr384Pro) | |
| 12 | g.55957028C>A | CA385216712 | PMEL | c.1275G>T (p.Glu425Asp) c.702G>T (p.Glu234Asp) c.811G>T n.235+80G>T c.359-1165G>T (n.359-1165G>T) c.1017G>T (p.Glu339Asp) c.1149G>T (p.Glu383Asp) | |
| 12 | g.55957028C>G | CA385216714 | PMEL | c.1275G>C (p.Glu425Asp) c.702G>C (p.Glu234Asp) c.811G>C n.235+80G>C c.359-1165G>C (n.359-1165G>C) c.1017G>C (p.Glu339Asp) c.1149G>C (p.Glu383Asp) | gnomAD v4 |
| 12 | g.55957028C>T | CA480364730 | PMEL | c.1275G>A (p.Glu425=) c.702G>A (p.Glu234=) c.811G>A n.235+80G>A c.359-1165G>A (n.359-1165G>A) c.1017G>A (p.Glu339=) c.1149G>A (p.Glu383=) | |
| 12 | g.55957029T>A | CA385216715 | PMEL | c.1274A>T (p.Glu425Val) c.701A>T (p.Glu234Val) c.810A>T n.235+79A>T c.359-1166A>T (n.359-1166A>T) c.1016A>T (p.Glu339Val) c.1148A>T (p.Glu383Val) | |
| 12 | g.55957029T>C | CA6620043 | PMEL | c.1274A>G (p.Glu425Gly) c.701A>G (p.Glu234Gly) c.810A>G n.235+79A>G c.359-1166A>G (n.359-1166A>G) c.1016A>G (p.Glu339Gly) c.1148A>G (p.Glu383Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957029T>G | CA385216717 | PMEL | c.1274A>C (p.Glu425Ala) c.701A>C (p.Glu234Ala) c.810A>C n.235+79A>C c.359-1166A>C (n.359-1166A>C) c.1016A>C (p.Glu339Ala) c.1148A>C (p.Glu383Ala) | |
| 12 | g.55957029T= | CA2038180999 | PMEL | c.1274A= (p.Glu425=) c.701A= (p.Glu234=) c.810A= n.235+79A= c.359-1166A= (n.359-1166A=) c.1016A= (p.Glu339=) c.1148A= (p.Glu383=) | |
| 12 | g.55957030C>A | CA385216723 | PMEL | c.1273G>T (p.Glu425Ter) c.700G>T (p.Glu234Ter) c.809G>T n.235+78G>T c.359-1167G>T (n.359-1167G>T) c.1015G>T (p.Glu339Ter) c.1147G>T (p.Glu383Ter) | |
| 12 | g.55957030C>G | CA385216719 | PMEL | c.1273G>C (p.Glu425Gln) c.700G>C (p.Glu234Gln) c.809G>C n.235+78G>C c.359-1167G>C (n.359-1167G>C) c.1015G>C (p.Glu339Gln) c.1147G>C (p.Glu383Gln) | |
| 12 | g.55957030C>T | CA385216721 | PMEL | c.1273G>A (p.Glu425Lys) c.700G>A (p.Glu234Lys) c.809G>A n.235+78G>A c.359-1167G>A (n.359-1167G>A) c.1015G>A (p.Glu339Lys) c.1147G>A (p.Glu383Lys) | gnomAD v4 |
| 12 | g.55957031C>A | CA480364732 | PMEL | c.1272G>T (p.Val424=) c.699G>T (p.Val233=) c.808G>T n.235+77G>T c.359-1168G>T (n.359-1168G>T) c.1014G>T (p.Val338=) c.1146G>T (p.Val382=) | |
| 12 | g.55957031C>G | CA480364733 | PMEL | c.1272G>C (p.Val424=) c.699G>C (p.Val233=) c.808G>C n.235+77G>C c.359-1168G>C (n.359-1168G>C) c.1014G>C (p.Val338=) c.1146G>C (p.Val382=) | |
| 12 | g.55957031C>T | CA480364734 | PMEL | c.1272G>A (p.Val424=) c.699G>A (p.Val233=) c.808G>A n.235+77G>A c.359-1168G>A (n.359-1168G>A) c.1014G>A (p.Val338=) c.1146G>A (p.Val382=) | gnomAD v4 |
| 12 | g.55957032A>C | CA385216725 | PMEL | c.1271T>G (p.Val424Gly) c.698T>G (p.Val233Gly) c.807T>G n.235+76T>G c.359-1169T>G (n.359-1169T>G) c.1013T>G (p.Val338Gly) c.1145T>G (p.Val382Gly) | gnomAD v4 |
| 12 | g.55957032A>G | CA385216726 | PMEL | c.1271T>C (p.Val424Ala) c.698T>C (p.Val233Ala) c.807T>C n.235+76T>C c.359-1169T>C (n.359-1169T>C) c.1013T>C (p.Val338Ala) c.1145T>C (p.Val382Ala) | |
| 12 | g.55957032A>T | CA385216728 | PMEL | c.1271T>A (p.Val424Glu) c.698T>A (p.Val233Glu) c.807T>A n.235+76T>A c.359-1169T>A (n.359-1169T>A) c.1013T>A (p.Val338Glu) c.1145T>A (p.Val382Glu) | |
| 12 | g.55957033C>A | CA385216730 | PMEL | c.1270G>T (p.Val424Leu) c.697G>T (p.Val233Leu) c.806G>T n.235+75G>T c.359-1170G>T (n.359-1170G>T) c.1012G>T (p.Val338Leu) c.1144G>T (p.Val382Leu) | |
| 12 | g.55957033C= | CA2038181003 | PMEL | c.1270G= (p.Val424=) c.697G= (p.Val233=) c.806G= n.235+75G= c.359-1170G= (n.359-1170G=) c.1012G= (p.Val338=) c.1144G= (p.Val382=) | |
| 12 | g.55957033C>G | CA385216732 | PMEL | c.1270G>C (p.Val424Leu) c.697G>C (p.Val233Leu) c.806G>C n.235+75G>C c.359-1170G>C (n.359-1170G>C) c.1012G>C (p.Val338Leu) c.1144G>C (p.Val382Leu) | |
| 12 | g.55957033C>T | CA237590886 | PMEL | c.1270G>A (p.Val424Met) c.697G>A (p.Val233Met) c.806G>A n.235+75G>A c.359-1170G>A (n.359-1170G>A) c.1012G>A (p.Val338Met) c.1144G>A (p.Val382Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957034C>A | CA385216733 | PMEL | c.1269G>T (p.Trp423Cys) c.696G>T (p.Trp232Cys) c.805G>T n.235+74G>T c.359-1171G>T (n.359-1171G>T) c.1011G>T (p.Trp337Cys) c.1143G>T (p.Trp381Cys) | |
| 12 | g.55957034C>G | CA385216735 | PMEL | c.1269G>C (p.Trp423Cys) c.696G>C (p.Trp232Cys) c.805G>C n.235+74G>C c.359-1171G>C (n.359-1171G>C) c.1011G>C (p.Trp337Cys) c.1143G>C (p.Trp381Cys) | |
| 12 | g.55957034C>T | CA385216737 | PMEL | c.1269G>A (p.Trp423Ter) c.696G>A (p.Trp232Ter) c.805G>A n.235+74G>A c.359-1171G>A (n.359-1171G>A) c.1011G>A (p.Trp337Ter) c.1143G>A (p.Trp381Ter) | |
| 12 | g.55957035C>A | CA385216738 | PMEL | c.1268G>T (p.Trp423Leu) c.695G>T (p.Trp232Leu) c.804G>T n.235+73G>T c.359-1172G>T (n.359-1172G>T) c.1010G>T (p.Trp337Leu) c.1142G>T (p.Trp381Leu) | |
| 12 | g.55957035C>G | CA385216740 | PMEL | c.1268G>C (p.Trp423Ser) c.695G>C (p.Trp232Ser) c.804G>C n.235+73G>C c.359-1172G>C (n.359-1172G>C) c.1010G>C (p.Trp337Ser) c.1142G>C (p.Trp381Ser) | |
| 12 | g.55957035C>T | CA385216742 | PMEL | c.1268G>A (p.Trp423Ter) c.695G>A (p.Trp232Ter) c.804G>A n.235+73G>A c.359-1172G>A (n.359-1172G>A) c.1010G>A (p.Trp337Ter) c.1142G>A (p.Trp381Ter) | gnomAD v4 |
| 12 | g.55957036A>C | CA385216743 | PMEL | c.1267T>G (p.Trp423Gly) c.694T>G (p.Trp232Gly) c.803T>G n.235+72T>G c.359-1173T>G (n.359-1173T>G) c.1009T>G (p.Trp337Gly) c.1141T>G (p.Trp381Gly) | gnomAD v4 |
| 12 | g.55957036A>G | CA385216747 | PMEL | c.1267T>C (p.Trp423Arg) c.694T>C (p.Trp232Arg) c.803T>C n.235+72T>C c.359-1173T>C (n.359-1173T>C) c.1009T>C (p.Trp337Arg) c.1141T>C (p.Trp381Arg) | |
| 12 | g.55957036A>T | CA385216745 | PMEL | c.1267T>A (p.Trp423Arg) c.694T>A (p.Trp232Arg) c.803T>A n.235+72T>A c.359-1173T>A (n.359-1173T>A) c.1009T>A (p.Trp337Arg) c.1141T>A (p.Trp381Arg) | |
| 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) | ClinVar 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) | |
| 12 | g.55957050A>G | CA385216788 | PMEL | c.1253T>C (p.Val418Ala) c.680T>C (p.Val227Ala) c.789T>C n.235+58T>C c.359-1187T>C (n.359-1187T>C) c.995T>C (p.Val332Ala) c.1127T>C (p.Val376Ala) | |
| 12 | g.55957050A>T | CA385216789 | PMEL | c.1253T>A (p.Val418Glu) c.680T>A (p.Val227Glu) c.789T>A n.235+58T>A c.359-1187T>A (n.359-1187T>A) c.995T>A (p.Val332Glu) c.1127T>A (p.Val376Glu) | |
| 12 | g.55957050_55957051delinsAC | CA2038181044 | PMEL | c.1252_1253delinsGT (p.Val418=) c.679_680delinsGT (p.Val227=) c.788_789delinsGT n.235+57_235+58delinsGT c.359-1188_359-1187delinsGT (n.359-1188_359-1187delinsGT) c.994_995delinsGT (p.Val332=) c.1126_1127delinsGT (p.Val376=) | |
| 12 | g.55957051C>A | CA385216792 | PMEL | c.1252G>T (p.Val418Leu) c.679G>T (p.Val227Leu) c.788G>T n.235+57G>T c.359-1188G>T (n.359-1188G>T) c.994G>T (p.Val332Leu) c.1126G>T (p.Val376Leu) | |
| 12 | g.55957051C>G | CA385216795 | PMEL | c.1252G>C (p.Val418Leu) c.679G>C (p.Val227Leu) c.788G>C n.235+57G>C c.359-1188G>C (n.359-1188G>C) c.994G>C (p.Val332Leu) c.1126G>C (p.Val376Leu) | |
| 12 | g.55957051C>T | CA385216793 | PMEL | c.1252G>A (p.Val418Ile) c.679G>A (p.Val227Ile) c.788G>A n.235+57G>A c.359-1188G>A (n.359-1188G>A) c.994G>A (p.Val332Ile) c.1126G>A (p.Val376Ile) | |
| 12 | g.55957052del | CA2038181046 | PMEL | c.1252del (p.Val418Ter) c.679del (p.Val227Ter) c.788del n.235+57del c.359-1188del (n.359-1188del) c.994del (p.Val332Ter) c.1126del (p.Val376Ter) | dbSNP |
| 12 | g.55957052C>A | CA385216797 | PMEL | c.1251G>T (p.Gln417His) c.678G>T (p.Gln226His) c.787G>T n.235+56G>T c.359-1189G>T (n.359-1189G>T) c.993G>T (p.Gln331His) c.1125G>T (p.Gln375His) | |
| 12 | g.55957052C= | CA2038181047 | PMEL | c.1251G= (p.Gln417=) c.678G= (p.Gln226=) c.787G= n.235+56G= c.359-1189G= (n.359-1189G=) c.993G= (p.Gln331=) c.1125G= (p.Gln375=) | |
| 12 | g.55957052C>G | CA385216799 | PMEL | c.1251G>C (p.Gln417His) c.678G>C (p.Gln226His) c.787G>C n.235+56G>C c.359-1189G>C (n.359-1189G>C) c.993G>C (p.Gln331His) c.1125G>C (p.Gln375His) | |
| 12 | g.55957052C>T | CA480364750 | PMEL | c.1251G>A (p.Gln417=) c.678G>A (p.Gln226=) c.787G>A n.235+56G>A c.359-1189G>A (n.359-1189G>A) c.993G>A (p.Gln331=) c.1125G>A (p.Gln375=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957053T>A | CA6620047 | PMEL | c.1250A>T (p.Gln417Leu) c.677A>T (p.Gln226Leu) c.786A>T n.235+55A>T c.359-1190A>T (n.359-1190A>T) c.992A>T (p.Gln331Leu) c.1124A>T (p.Gln375Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957053T>C | CA385216802 | PMEL | c.1250A>G (p.Gln417Arg) c.677A>G (p.Gln226Arg) c.786A>G n.235+55A>G c.359-1190A>G (n.359-1190A>G) c.992A>G (p.Gln331Arg) c.1124A>G (p.Gln375Arg) | |
| 12 | g.55957053T>G | CA385216804 | PMEL | c.1250A>C (p.Gln417Pro) c.677A>C (p.Gln226Pro) c.786A>C n.235+55A>C c.359-1190A>C (n.359-1190A>C) c.992A>C (p.Gln331Pro) c.1124A>C (p.Gln375Pro) | |
| 12 | g.55957053T= | CA2038181048 | PMEL | c.1250A= (p.Gln417=) c.677A= (p.Gln226=) c.786A= n.235+55A= c.359-1190A= (n.359-1190A=) c.992A= (p.Gln331=) c.1124A= (p.Gln375=) | |
| 12 | g.55957054G>A | CA385216805 | PMEL | c.1249C>T (p.Gln417Ter) c.676C>T (p.Gln226Ter) c.785C>T n.235+54C>T c.359-1191C>T (n.359-1191C>T) c.991C>T (p.Gln331Ter) c.1123C>T (p.Gln375Ter) | |
| 12 | g.55957054G>C | CA385216806 | PMEL | c.1249C>G (p.Gln417Glu) c.676C>G (p.Gln226Glu) c.785C>G n.235+54C>G c.359-1191C>G (n.359-1191C>G) c.991C>G (p.Gln331Glu) c.1123C>G (p.Gln375Glu) | |
| 12 | g.55957054G>T | CA385216808 | PMEL | c.1249C>A (p.Gln417Lys) c.676C>A (p.Gln226Lys) c.785C>A n.235+54C>A c.359-1191C>A (n.359-1191C>A) c.991C>A (p.Gln331Lys) c.1123C>A (p.Gln375Lys) | |
| 12 | g.55957055T>A | CA480364754 | PMEL | c.1248A>T (p.Ala416=) c.675A>T (p.Ala225=) c.784A>T n.235+53A>T c.359-1192A>T (n.359-1192A>T) c.990A>T (p.Ala330=) c.1122A>T (p.Ala374=) | |
| 12 | g.55957055T>C | CA480364755 | PMEL | c.1248A>G (p.Ala416=) c.675A>G (p.Ala225=) c.784A>G n.235+53A>G c.359-1192A>G (n.359-1192A>G) c.990A>G (p.Ala330=) c.1122A>G (p.Ala374=) | |
| 12 | g.55957055T>G | CA480364756 | PMEL | c.1248A>C (p.Ala416=) c.675A>C (p.Ala225=) c.784A>C n.235+53A>C c.359-1192A>C (n.359-1192A>C) c.990A>C (p.Ala330=) c.1122A>C (p.Ala374=) | |
| 12 | g.55957056G>A | CA385216809 | PMEL | c.1247C>T (p.Ala416Val) c.674C>T (p.Ala225Val) c.783C>T n.235+52C>T c.359-1193C>T (n.359-1193C>T) c.989C>T (p.Ala330Val) c.1121C>T (p.Ala374Val) | |
| 12 | g.55957056G>C | CA385216811 | PMEL | c.1247C>G (p.Ala416Gly) c.674C>G (p.Ala225Gly) c.783C>G n.235+52C>G c.359-1193C>G (n.359-1193C>G) c.989C>G (p.Ala330Gly) c.1121C>G (p.Ala374Gly) | |
| 12 | g.55957056G>T | CA385216812 | PMEL | c.1247C>A (p.Ala416Glu) c.674C>A (p.Ala225Glu) c.783C>A n.235+52C>A c.359-1193C>A (n.359-1193C>A) c.989C>A (p.Ala330Glu) c.1121C>A (p.Ala374Glu) | |
| 12 | g.55957057C>A | CA385216818 | PMEL | c.1246G>T (p.Ala416Ser) c.673G>T (p.Ala225Ser) c.782G>T n.235+51G>T c.359-1194G>T (n.359-1194G>T) c.988G>T (p.Ala330Ser) c.1120G>T (p.Ala374Ser) | |
| 12 | g.55957057C= | CA2038181052 | PMEL | c.1246G= (p.Ala416=) c.673G= (p.Ala225=) c.782G= n.235+51G= c.359-1194G= (n.359-1194G=) c.988G= (p.Ala330=) c.1120G= (p.Ala374=) | |
| 12 | g.55957057C>G | CA385216816 | PMEL | c.1246G>C (p.Ala416Pro) c.673G>C (p.Ala225Pro) c.782G>C n.235+51G>C c.359-1194G>C (n.359-1194G>C) c.988G>C (p.Ala330Pro) c.1120G>C (p.Ala374Pro) | dbSNP |
| 12 | g.55957057C>T | CA385216814 | PMEL | c.1246G>A (p.Ala416Thr) c.673G>A (p.Ala225Thr) c.782G>A n.235+51G>A c.359-1194G>A (n.359-1194G>A) c.988G>A (p.Ala330Thr) c.1120G>A (p.Ala374Thr) | |
| 12 | g.55957058A>C | CA480364760 | PMEL | c.1245T>G (p.Ala415=) c.672T>G (p.Ala224=) c.781T>G n.235+50T>G c.359-1195T>G (n.359-1195T>G) c.987T>G (p.Ala329=) c.1119T>G (p.Ala373=) | gnomAD v4 |
| 12 | g.55957058A>G | CA480364761 | PMEL | c.1245T>C (p.Ala415=) c.672T>C (p.Ala224=) c.781T>C n.235+50T>C c.359-1195T>C (n.359-1195T>C) c.987T>C (p.Ala329=) c.1119T>C (p.Ala373=) | |
| 12 | g.55957058A>T | CA480364762 | PMEL | c.1245T>A (p.Ala415=) c.672T>A (p.Ala224=) c.781T>A n.235+50T>A c.359-1195T>A (n.359-1195T>A) c.987T>A (p.Ala329=) c.1119T>A (p.Ala373=) | |
| 12 | g.55957059G>A | CA385216820 | PMEL | c.1244C>T (p.Ala415Val) c.671C>T (p.Ala224Val) c.780C>T n.235+49C>T c.359-1196C>T (n.359-1196C>T) c.986C>T (p.Ala329Val) c.1118C>T (p.Ala373Val) | COSMIC |
| 12 | g.55957059G>C | CA385216821 | PMEL | c.1244C>G (p.Ala415Gly) c.671C>G (p.Ala224Gly) c.780C>G n.235+49C>G c.359-1196C>G (n.359-1196C>G) c.986C>G (p.Ala329Gly) c.1118C>G (p.Ala373Gly) | |
| 12 | g.55957059G>T | CA385216823 | PMEL | c.1244C>A (p.Ala415Asp) c.671C>A (p.Ala224Asp) c.780C>A n.235+49C>A c.359-1196C>A (n.359-1196C>A) c.986C>A (p.Ala329Asp) c.1118C>A (p.Ala373Asp) | |
| 12 | g.55957060C>A | CA385216824 | PMEL | c.1243G>T (p.Ala415Ser) c.671-1G>T (n.671-1G>T) c.780-1G>T n.235+48G>T c.359-1197G>T (n.359-1197G>T) c.985G>T (p.Ala329Ser) c.1118-1G>T (n.1118-1G>T) | |
| 12 | g.55957060C>G | CA385216826 | PMEL | c.1243G>C (p.Ala415Pro) c.671-1G>C (n.671-1G>C) c.780-1G>C n.235+48G>C c.359-1197G>C (n.359-1197G>C) c.985G>C (p.Ala329Pro) c.1118-1G>C (n.1118-1G>C) | |
| 12 | g.55957060C>T | CA385216827 | PMEL | c.1243G>A (p.Ala415Thr) c.671-1G>A (n.671-1G>A) c.780-1G>A n.235+48G>A c.359-1197G>A (n.359-1197G>A) c.985G>A (p.Ala329Thr) c.1118-1G>A (n.1118-1G>A) | gnomAD v4 |
| 12 | g.55957061T>A | CA385216830 | PMEL | c.1242A>T (p.Thr414=) c.671-2A>T (n.671-2A>T) c.780-2A>T n.235+47A>T c.359-1198A>T (n.359-1198A>T) c.984A>T (p.Thr328=) c.1118-2A>T (n.1118-2A>T) | |
| 12 | g.55957061T>C | CA6620048 | PMEL | c.1242A>G (p.Thr414=) c.671-2A>G (n.671-2A>G) c.780-2A>G n.235+47A>G c.359-1198A>G (n.359-1198A>G) c.984A>G (p.Thr328=) c.1118-2A>G (n.1118-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957061T>G | CA385216831 | PMEL | c.1242A>C (p.Thr414=) c.671-2A>C (n.671-2A>C) c.780-2A>C n.235+47A>C c.359-1198A>C (n.359-1198A>C) c.984A>C (p.Thr328=) c.1118-2A>C (n.1118-2A>C) | |
| 12 | g.55957061T= | CA2038181062 | PMEL | c.1242A= (p.Thr414=) c.671-2A= (n.671-2A=) c.780-2A= n.235+47A= c.359-1198A= (n.359-1198A=) c.984A= (p.Thr328=) c.1118-2A= (n.1118-2A=) | |
| 12 | g.55957062G>A | CA385216833 | PMEL | c.1241C>T (p.Thr414Ile) c.671-3C>T (n.671-3C>T) c.780-3C>T n.235+46C>T c.359-1199C>T (n.359-1199C>T) c.983C>T (p.Thr328Ile) c.1118-3C>T (n.1118-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957062G>C | CA385216835 | PMEL | c.1241C>G (p.Thr414Arg) c.671-3C>G (n.671-3C>G) c.780-3C>G n.235+46C>G c.359-1199C>G (n.359-1199C>G) c.983C>G (p.Thr328Arg) c.1118-3C>G (n.1118-3C>G) | |
| 12 | g.55957062G= | CA2038181068 | PMEL | c.1241C= (p.Thr414=) c.671-3C= (n.671-3C=) c.780-3C= n.235+46C= c.359-1199C= (n.359-1199C=) c.983C= (p.Thr328=) c.1118-3C= (n.1118-3C=) | |
| 12 | g.55957062G>T | CA385216837 | PMEL | c.1241C>A (p.Thr414Lys) c.671-3C>A (n.671-3C>A) c.780-3C>A n.235+46C>A c.359-1199C>A (n.359-1199C>A) c.983C>A (p.Thr328Lys) c.1118-3C>A (n.1118-3C>A) | |
| 12 | g.55957063T>A | CA385216842 | PMEL | c.1240A>T (p.Thr414Ser) c.671-4A>T (n.671-4A>T) c.780-4A>T n.235+45A>T c.359-1200A>T (n.359-1200A>T) c.982A>T (p.Thr328Ser) c.1118-4A>T (n.1118-4A>T) | |
| 12 | g.55957063T>C | CA385216840 | PMEL | c.1240A>G (p.Thr414Ala) c.671-4A>G (n.671-4A>G) c.780-4A>G n.235+45A>G c.359-1200A>G (n.359-1200A>G) c.982A>G (p.Thr328Ala) c.1118-4A>G (n.1118-4A>G) | COSMIC |
| 12 | g.55957063T>G | CA385216839 | PMEL | c.1240A>C (p.Thr414Pro) c.671-4A>C (n.671-4A>C) c.780-4A>C n.235+45A>C c.359-1200A>C (n.359-1200A>C) c.982A>C (p.Thr328Pro) c.1118-4A>C (n.1118-4A>C) | |
| 12 | g.55957064G>A | CA480364763 | PMEL | c.1239C>T (p.Thr413=) c.671-5C>T (n.671-5C>T) c.780-5C>T n.235+44C>T c.359-1201C>T (n.359-1201C>T) c.981C>T (p.Thr327=) c.1118-5C>T (n.1118-5C>T) | |
| 12 | g.55957064G>C | CA480364764 | PMEL | c.1239C>G (p.Thr413=) c.671-5C>G (n.671-5C>G) c.780-5C>G n.235+44C>G c.359-1201C>G (n.359-1201C>G) c.981C>G (p.Thr327=) c.1118-5C>G (n.1118-5C>G) | |
| 12 | g.55957064G>T | CA480364765 | PMEL | c.1239C>A (p.Thr413=) c.671-5C>A (n.671-5C>A) c.780-5C>A n.235+44C>A c.359-1201C>A (n.359-1201C>A) c.981C>A (p.Thr327=) c.1118-5C>A (n.1118-5C>A) | |
| 12 | g.55957065G>A | CA385216843 | PMEL | c.1238C>T (p.Thr413Ile) c.671-6C>T (n.671-6C>T) c.780-6C>T n.235+43C>T c.359-1202C>T (n.359-1202C>T) c.980C>T (p.Thr327Ile) c.1118-6C>T (n.1118-6C>T) | |
| 12 | g.55957065G>C | CA385216846 | PMEL | c.1238C>G (p.Thr413Ser) c.671-6C>G (n.671-6C>G) c.780-6C>G n.235+43C>G c.359-1202C>G (n.359-1202C>G) c.980C>G (p.Thr327Ser) c.1118-6C>G (n.1118-6C>G) | |
| 12 | g.55957065G= | CA2038181070 | PMEL | c.1238C= (p.Thr413=) c.671-6C= (n.671-6C=) c.780-6C= n.235+43C= c.359-1202C= (n.359-1202C=) c.980C= (p.Thr327=) c.1118-6C= (n.1118-6C=) | |
| 12 | g.55957065G>T | CA385216844 | PMEL | c.1238C>A (p.Thr413Asn) c.671-6C>A (n.671-6C>A) c.780-6C>A n.235+43C>A c.359-1202C>A (n.359-1202C>A) c.980C>A (p.Thr327Asn) c.1118-6C>A (n.1118-6C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957066T>A | CA385216847 | PMEL | c.1237A>T (p.Thr413Ser) c.671-7A>T (n.671-7A>T) c.780-7A>T n.235+42A>T c.359-1203A>T (n.359-1203A>T) c.979A>T (p.Thr327Ser) c.1118-7A>T (n.1118-7A>T) | |
| 12 | g.55957066T>C | CA385216851 | PMEL | c.1237A>G (p.Thr413Ala) c.671-7A>G (n.671-7A>G) c.780-7A>G n.235+42A>G c.359-1203A>G (n.359-1203A>G) c.979A>G (p.Thr327Ala) c.1118-7A>G (n.1118-7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957066T>G | CA385216852 | PMEL | c.1237A>C (p.Thr413Pro) c.671-7A>C (n.671-7A>C) c.780-7A>C n.235+42A>C c.359-1203A>C (n.359-1203A>C) c.979A>C (p.Thr327Pro) c.1118-7A>C (n.1118-7A>C) | |
| 12 | g.55957066T= | CA2038181073 | PMEL | c.1237A= (p.Thr413=) c.671-7A= (n.671-7A=) c.780-7A= n.235+42A= c.359-1203A= (n.359-1203A=) c.979A= (p.Thr327=) c.1118-7A= (n.1118-7A=) | |
| 12 | g.55957067T>A | CA480364766 | PMEL | c.1236A>T (p.Gly412=) c.671-8A>T (n.671-8A>T) c.780-8A>T n.235+41A>T c.359-1204A>T (n.359-1204A>T) c.978A>T (p.Gly326=) c.1118-8A>T (n.1118-8A>T) | gnomAD v4 |
| 12 | g.55957067T>C | CA480364767 | PMEL | c.1236A>G (p.Gly412=) c.671-8A>G (n.671-8A>G) c.780-8A>G n.235+41A>G c.359-1204A>G (n.359-1204A>G) c.978A>G (p.Gly326=) c.1118-8A>G (n.1118-8A>G) | |
| 12 | g.55957067T>G | CA480364768 | PMEL | c.1236A>C (p.Gly412=) c.671-8A>C (n.671-8A>C) c.780-8A>C n.235+41A>C c.359-1204A>C (n.359-1204A>C) c.978A>C (p.Gly326=) c.1118-8A>C (n.1118-8A>C) | |
| 12 | g.55957068C>A | CA385216853 | PMEL | c.1235G>T (p.Gly412Val) c.671-9G>T (n.671-9G>T) c.780-9G>T n.235+40G>T c.359-1205G>T (n.359-1205G>T) c.977G>T (p.Gly326Val) c.1118-9G>T (n.1118-9G>T) | gnomAD v4 |
| 12 | g.55957068C= | CA2038181076 | PMEL | c.1235G= (p.Gly412=) c.671-9G= (n.671-9G=) c.780-9G= n.235+40G= c.359-1205G= (n.359-1205G=) c.977G= (p.Gly326=) c.1118-9G= (n.1118-9G=) | |
| 12 | g.55957068C>G | CA385216855 | PMEL | c.1235G>C (p.Gly412Ala) c.671-9G>C (n.671-9G>C) c.780-9G>C n.235+40G>C c.359-1205G>C (n.359-1205G>C) c.977G>C (p.Gly326Ala) c.1118-9G>C (n.1118-9G>C) | |
| 12 | g.55957068C>T | CA237590914 | PMEL | c.1235G>A (p.Gly412Glu) c.671-9G>A (n.671-9G>A) c.780-9G>A n.235+40G>A c.359-1205G>A (n.359-1205G>A) c.977G>A (p.Gly326Glu) c.1118-9G>A (n.1118-9G>A) | dbSNP |
| 12 | g.55957069C>A | CA385216858 | PMEL | c.1234G>T (p.Gly412Ter) c.671-10G>T (n.671-10G>T) c.780-10G>T n.235+39G>T c.359-1206G>T (n.359-1206G>T) c.976G>T (p.Gly326Ter) c.1118-10G>T (n.1118-10G>T) | |
| 12 | g.55957069C>G | CA385216859 | PMEL | c.1234G>C (p.Gly412Arg) c.671-10G>C (n.671-10G>C) c.780-10G>C n.235+39G>C c.359-1206G>C (n.359-1206G>C) c.976G>C (p.Gly326Arg) c.1118-10G>C (n.1118-10G>C) | gnomAD v4 |
| 12 | g.55957069C>T | CA385216860 | PMEL | c.1234G>A (p.Gly412Arg) c.671-10G>A (n.671-10G>A) c.780-10G>A n.235+39G>A c.359-1206G>A (n.359-1206G>A) c.976G>A (p.Gly326Arg) c.1118-10G>A (n.1118-10G>A) | |
| 12 | g.55957070A>C | CA480364769 | PMEL | c.1233T>G (p.Ser411=) c.671-11T>G (n.671-11T>G) c.780-11T>G n.235+38T>G c.359-1207T>G (n.359-1207T>G) c.975T>G (p.Ser325=) c.1118-11T>G (n.1118-11T>G) | gnomAD v4 |
| 12 | g.55957070A>G | CA480364770 | PMEL | c.1233T>C (p.Ser411=) c.671-11T>C (n.671-11T>C) c.780-11T>C n.235+38T>C c.359-1207T>C (n.359-1207T>C) c.975T>C (p.Ser325=) c.1118-11T>C (n.1118-11T>C) | gnomAD v4 |
| 12 | g.55957070A>T | CA480364771 | PMEL | c.1233T>A (p.Ser411=) c.671-11T>A (n.671-11T>A) c.780-11T>A n.235+38T>A c.359-1207T>A (n.359-1207T>A) c.975T>A (p.Ser325=) c.1118-11T>A (n.1118-11T>A) | |
| 12 | g.55957071G>A | CA385216863 | PMEL | c.1232C>T (p.Ser411Phe) c.671-12C>T (n.671-12C>T) c.780-12C>T n.235+37C>T c.359-1208C>T (n.359-1208C>T) c.974C>T (p.Ser325Phe) c.1118-12C>T (n.1118-12C>T) | |
| 12 | g.55957071G>C | CA385216864 | PMEL | c.1232C>G (p.Ser411Cys) c.671-12C>G (n.671-12C>G) c.780-12C>G n.235+37C>G c.359-1208C>G (n.359-1208C>G) c.974C>G (p.Ser325Cys) c.1118-12C>G (n.1118-12C>G) | |
| 12 | g.55957071G>T | CA385216866 | PMEL | c.1232C>A (p.Ser411Tyr) c.671-12C>A (n.671-12C>A) c.780-12C>A n.235+37C>A c.359-1208C>A (n.359-1208C>A) c.974C>A (p.Ser325Tyr) c.1118-12C>A (n.1118-12C>A) | |
| 12 | g.55957072A>C | CA385216871 | PMEL | c.1231T>G (p.Ser411Ala) c.671-13T>G (n.671-13T>G) c.780-13T>G n.235+36T>G c.359-1209T>G (n.359-1209T>G) c.973T>G (p.Ser325Ala) c.1118-13T>G (n.1118-13T>G) | |
| 12 | g.55957072A>G | CA385216868 | PMEL | c.1231T>C (p.Ser411Pro) c.671-13T>C (n.671-13T>C) c.780-13T>C n.235+36T>C c.359-1209T>C (n.359-1209T>C) c.973T>C (p.Ser325Pro) c.1118-13T>C (n.1118-13T>C) | gnomAD v4 |
| 12 | g.55957072A>T | CA385216869 | PMEL | c.1231T>A (p.Ser411Thr) c.671-13T>A (n.671-13T>A) c.780-13T>A n.235+36T>A c.359-1209T>A (n.359-1209T>A) c.973T>A (p.Ser325Thr) c.1118-13T>A (n.1118-13T>A) | |
| 12 | g.55957073A>C | CA480364775 | PMEL | c.1230T>G (p.Leu410=) c.671-14T>G (n.671-14T>G) c.780-14T>G n.235+35T>G c.359-1210T>G (n.359-1210T>G) c.972T>G (p.Leu324=) c.1118-14T>G (n.1118-14T>G) | |
| 12 | g.55957073A>G | CA480364774 | PMEL | c.1230T>C (p.Leu410=) c.671-14T>C (n.671-14T>C) c.780-14T>C n.235+35T>C c.359-1210T>C (n.359-1210T>C) c.972T>C (p.Leu324=) c.1118-14T>C (n.1118-14T>C) | |
| 12 | g.55957073A>T | CA480364772 | PMEL | c.1230T>A (p.Leu410=) c.671-14T>A (n.671-14T>A) c.780-14T>A n.235+35T>A c.359-1210T>A (n.359-1210T>A) c.972T>A (p.Leu324=) c.1118-14T>A (n.1118-14T>A) | |
| 12 | g.55957074A>C | CA385216873 | PMEL | c.1229T>G (p.Leu410Arg) c.671-15T>G (n.671-15T>G) c.780-15T>G n.235+34T>G c.359-1211T>G (n.359-1211T>G) c.971T>G (p.Leu324Arg) c.1118-15T>G (n.1118-15T>G) | |
| 12 | g.55957074A>G | CA385216874 | PMEL | c.1229T>C (p.Leu410Pro) c.671-15T>C (n.671-15T>C) c.780-15T>C n.235+34T>C c.359-1211T>C (n.359-1211T>C) c.971T>C (p.Leu324Pro) c.1118-15T>C (n.1118-15T>C) | gnomAD v4 |
| 12 | g.55957074A>T | CA385216876 | PMEL | c.1229T>A (p.Leu410His) c.671-15T>A (n.671-15T>A) c.780-15T>A n.235+34T>A c.359-1211T>A (n.359-1211T>A) c.971T>A (p.Leu324His) c.1118-15T>A (n.1118-15T>A) | |
| 12 | g.55957075G>A | CA385216878 | PMEL | c.1228C>T (p.Leu410Phe) c.671-16C>T (n.671-16C>T) c.780-16C>T n.235+33C>T c.359-1212C>T (n.359-1212C>T) c.970C>T (p.Leu324Phe) c.1118-16C>T (n.1118-16C>T) | gnomAD v4 |
| 12 | g.55957075G>C | CA385216879 | PMEL | c.1228C>G (p.Leu410Val) c.671-16C>G (n.671-16C>G) c.780-16C>G n.235+33C>G c.359-1212C>G (n.359-1212C>G) c.970C>G (p.Leu324Val) c.1118-16C>G (n.1118-16C>G) | |
| 12 | g.55957075G>T | CA385216880 | PMEL | c.1228C>A (p.Leu410Ile) c.671-16C>A (n.671-16C>A) c.780-16C>A n.235+33C>A c.359-1212C>A (n.359-1212C>A) c.970C>A (p.Leu324Ile) c.1118-16C>A (n.1118-16C>A) | gnomAD v4 |
| 12 | g.55957075_55957078delinsGCAC | CA2038181081 | PMEL | c.1225_1228delinsGTGC (p.Val409=) c.671-19_671-16delinsGTGC (n.671-19_671-16delinsGTGC) c.780-19_780-16delinsGTGC n.235+30_235+33delinsGTGC c.359-1215_359-1212delinsGTGC (n.359-1215_359-1212delinsGTGC) c.967_970delinsGTGC (p.Val323=) c.1118-19_1118-16delinsGTGC (n.1118-19_1118-16delinsGTGC) | |
| 12 | g.55957076C>A | CA480364777 | PMEL | c.1227G>T (p.Val409=) c.671-17G>T (n.671-17G>T) c.780-17G>T n.235+32G>T c.359-1213G>T (n.359-1213G>T) c.969G>T (p.Val323=) c.1118-17G>T (n.1118-17G>T) | |
| 12 | g.55957076C= | CA2038181087 | PMEL | c.1227G= (p.Val409=) c.671-17G= (n.671-17G=) c.780-17G= n.235+32G= c.359-1213G= (n.359-1213G=) c.969G= (p.Val323=) c.1118-17G= (n.1118-17G=) | |
| 12 | g.55957076C>G | CA480364778 | PMEL | c.1227G>C (p.Val409=) c.671-17G>C (n.671-17G>C) c.780-17G>C n.235+32G>C c.359-1213G>C (n.359-1213G>C) c.969G>C (p.Val323=) c.1118-17G>C (n.1118-17G>C) | |
| 12 | g.55957076C>T | CA6620050 | PMEL | c.1227G>A (p.Val409=) c.671-17G>A (n.671-17G>A) c.780-17G>A n.235+32G>A c.359-1213G>A (n.359-1213G>A) c.969G>A (p.Val323=) c.1118-17G>A (n.1118-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957079_55957081del | CA6620049 | PMEL | c.1225_1227del (p.Val409del) c.671-19_671-17del (n.671-19_671-17del) c.780-19_780-17del n.235+30_235+32del c.359-1215_359-1213del (n.359-1215_359-1213del) c.967_969del (p.Val323del) c.1118-19_1118-17del (n.1118-19_1118-17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957077A= | CA2038181095 | PMEL | c.1226T= (p.Val409=) c.671-18T= (n.671-18T=) c.780-18T= n.235+31T= c.359-1214T= (n.359-1214T=) c.968T= (p.Val323=) c.1118-18T= (n.1118-18T=) | |
| 12 | g.55957077A>C | CA385216884 | PMEL | c.1226T>G (p.Val409Gly) c.671-18T>G (n.671-18T>G) c.780-18T>G n.235+31T>G c.359-1214T>G (n.359-1214T>G) c.968T>G (p.Val323Gly) c.1118-18T>G (n.1118-18T>G) | dbSNP |
| 12 | g.55957077A>G | CA385216885 | PMEL | c.1226T>C (p.Val409Ala) c.671-18T>C (n.671-18T>C) c.780-18T>C n.235+31T>C c.359-1214T>C (n.359-1214T>C) c.968T>C (p.Val323Ala) c.1118-18T>C (n.1118-18T>C) | |
| 12 | g.55957077A>T | CA385216886 | PMEL | c.1226T>A (p.Val409Glu) c.671-18T>A (n.671-18T>A) c.780-18T>A n.235+31T>A c.359-1214T>A (n.359-1214T>A) c.968T>A (p.Val323Glu) c.1118-18T>A (n.1118-18T>A) | |
| 12 | g.55957078C>A | CA385216892 | PMEL | c.1225G>T (p.Val409Leu) c.671-19G>T (n.671-19G>T) c.780-19G>T n.235+30G>T c.359-1215G>T (n.359-1215G>T) c.967G>T (p.Val323Leu) c.1118-19G>T (n.1118-19G>T) | |
| 12 | g.55957078C= | CA2038181101 | PMEL | c.1225G= (p.Val409=) c.671-19G= (n.671-19G=) c.780-19G= n.235+30G= c.359-1215G= (n.359-1215G=) c.967G= (p.Val323=) c.1118-19G= (n.1118-19G=) | |
| 12 | g.55957078C>G | CA385216891 | PMEL | c.1225G>C (p.Val409Leu) c.671-19G>C (n.671-19G>C) c.780-19G>C n.235+30G>C c.359-1215G>C (n.359-1215G>C) c.967G>C (p.Val323Leu) c.1118-19G>C (n.1118-19G>C) | dbSNP gnomAD v4 |
| 12 | g.55957078C>T | CA385216889 | PMEL | c.1225G>A (p.Val409Met) c.671-19G>A (n.671-19G>A) c.780-19G>A n.235+30G>A c.359-1215G>A (n.359-1215G>A) c.967G>A (p.Val323Met) c.1118-19G>A (n.1118-19G>A) | |
| 12 | g.55957079C>A | CA480364782 | PMEL | c.1224G>T (p.Val408=) c.671-20G>T (n.671-20G>T) c.780-20G>T n.235+29G>T c.359-1216G>T (n.359-1216G>T) c.966G>T (p.Val322=) c.1118-20G>T (n.1118-20G>T) | |
| 12 | g.55957079C>G | CA480364784 | PMEL | c.1224G>C (p.Val408=) c.671-20G>C (n.671-20G>C) c.780-20G>C n.235+29G>C c.359-1216G>C (n.359-1216G>C) c.966G>C (p.Val322=) c.1118-20G>C (n.1118-20G>C) | |
| 12 | g.55957079C>T | CA480364783 | PMEL | c.1224G>A (p.Val408=) c.671-20G>A (n.671-20G>A) c.780-20G>A n.235+29G>A c.359-1216G>A (n.359-1216G>A) c.966G>A (p.Val322=) c.1118-20G>A (n.1118-20G>A) | gnomAD v4 |
| 12 | g.55957080A= | CA2038181105 | PMEL | c.1223T= (p.Val408=) c.671-21T= (n.671-21T=) c.780-21T= n.235+28T= c.359-1217T= (n.359-1217T=) c.965T= (p.Val322=) c.1118-21T= (n.1118-21T=) | |
| 12 | g.55957080A>C | CA385216896 | PMEL | c.1223T>G (p.Val408Gly) c.671-21T>G (n.671-21T>G) c.780-21T>G n.235+28T>G c.359-1217T>G (n.359-1217T>G) c.965T>G (p.Val322Gly) c.1118-21T>G (n.1118-21T>G) | |
| 12 | g.55957080A>G | CA6620051 | PMEL | c.1223T>C (p.Val408Ala) c.671-21T>C (n.671-21T>C) c.780-21T>C n.235+28T>C c.359-1217T>C (n.359-1217T>C) c.965T>C (p.Val322Ala) c.1118-21T>C (n.1118-21T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957080A>T | CA385216894 | PMEL | c.1223T>A (p.Val408Glu) c.671-21T>A (n.671-21T>A) c.780-21T>A n.235+28T>A c.359-1217T>A (n.359-1217T>A) c.965T>A (p.Val322Glu) c.1118-21T>A (n.1118-21T>A) | |
| 12 | g.55957081C>A | CA6620052 | PMEL | c.1222G>T (p.Val408Leu) c.671-22G>T (n.671-22G>T) c.780-22G>T n.235+27G>T c.359-1218G>T (n.359-1218G>T) c.964G>T (p.Val322Leu) c.1118-22G>T (n.1118-22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957081C= | CA2038181111 | PMEL | c.1222G= (p.Val408=) c.671-22G= (n.671-22G=) c.780-22G= n.235+27G= c.359-1218G= (n.359-1218G=) c.964G= (p.Val322=) c.1118-22G= (n.1118-22G=) | |
| 12 | g.55957081C>G | CA385216898 | PMEL | c.1222G>C (p.Val408Leu) c.671-22G>C (n.671-22G>C) c.780-22G>C n.235+27G>C c.359-1218G>C (n.359-1218G>C) c.964G>C (p.Val322Leu) c.1118-22G>C (n.1118-22G>C) | |
| 12 | g.55957081C>T | CA385216900 | PMEL | c.1222G>A (p.Val408Met) c.671-22G>A (n.671-22G>A) c.780-22G>A n.235+27G>A c.359-1218G>A (n.359-1218G>A) c.964G>A (p.Val322Met) c.1118-22G>A (n.1118-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957082A>C | CA385216902 | PMEL | c.1221T>G (p.Ile407Met) c.671-23T>G (n.671-23T>G) c.780-23T>G n.235+26T>G c.359-1219T>G (n.359-1219T>G) c.963T>G (p.Ile321Met) c.1118-23T>G (n.1118-23T>G) | |
| 12 | g.55957082A>G | CA480364785 | PMEL | c.1221T>C (p.Ile407=) c.671-23T>C (n.671-23T>C) c.780-23T>C n.235+26T>C c.359-1219T>C (n.359-1219T>C) c.963T>C (p.Ile321=) c.1118-23T>C (n.1118-23T>C) | |
| 12 | g.55957082A>T | CA480364786 | PMEL | c.1221T>A (p.Ile407=) c.671-23T>A (n.671-23T>A) c.780-23T>A n.235+26T>A c.359-1219T>A (n.359-1219T>A) c.963T>A (p.Ile321=) c.1118-23T>A (n.1118-23T>A) | |
| 12 | g.55957083A>C | CA385216903 | PMEL | c.1220T>G (p.Ile407Ser) c.671-24T>G (n.671-24T>G) c.780-24T>G n.235+25T>G c.359-1220T>G (n.359-1220T>G) c.962T>G (p.Ile321Ser) c.1118-24T>G (n.1118-24T>G) | |
| 12 | g.55957083A>G | CA385216905 | PMEL | c.1220T>C (p.Ile407Thr) c.671-24T>C (n.671-24T>C) c.780-24T>C n.235+25T>C c.359-1220T>C (n.359-1220T>C) c.962T>C (p.Ile321Thr) c.1118-24T>C (n.1118-24T>C) | gnomAD v4 |
| 12 | g.55957083A>T | CA385216907 | PMEL | c.1220T>A (p.Ile407Asn) c.671-24T>A (n.671-24T>A) c.780-24T>A n.235+25T>A c.359-1220T>A (n.359-1220T>A) c.962T>A (p.Ile321Asn) c.1118-24T>A (n.1118-24T>A) | |
| 12 | g.55957084T>A | CA385216908 | PMEL | c.1219A>T (p.Ile407Phe) c.671-25A>T (n.671-25A>T) c.780-25A>T n.235+24A>T c.359-1221A>T (n.359-1221A>T) c.961A>T (p.Ile321Phe) c.1118-25A>T (n.1118-25A>T) | |
| 12 | g.55957084T>C | CA6620053 | PMEL | c.1219A>G (p.Ile407Val) c.671-25A>G (n.671-25A>G) c.780-25A>G n.235+24A>G c.359-1221A>G (n.359-1221A>G) c.961A>G (p.Ile321Val) c.1118-25A>G (n.1118-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957084T>G | CA385216910 | PMEL | c.1219A>C (p.Ile407Leu) c.671-25A>C (n.671-25A>C) c.780-25A>C n.235+24A>C c.359-1221A>C (n.359-1221A>C) c.961A>C (p.Ile321Leu) c.1118-25A>C (n.1118-25A>C) | |
| 12 | g.55957084T= | CA2038181113 | PMEL | c.1219A= (p.Ile407=) c.671-25A= (n.671-25A=) c.780-25A= n.235+24A= c.359-1221A= (n.359-1221A=) c.961A= (p.Ile321=) c.1118-25A= (n.1118-25A=) | |
| 12 | g.55957085T>A | CA480364787 | PMEL | c.1218A>T (p.Ser406=) c.671-26A>T (n.671-26A>T) c.780-26A>T n.235+23A>T c.359-1222A>T (n.359-1222A>T) c.960A>T (p.Ser320=) c.1118-26A>T (n.1118-26A>T) | |
| 12 | g.55957085T>C | CA480364788 | PMEL | c.1218A>G (p.Ser406=) c.671-26A>G (n.671-26A>G) c.780-26A>G n.235+23A>G c.359-1222A>G (n.359-1222A>G) c.960A>G (p.Ser320=) c.1118-26A>G (n.1118-26A>G) | |
| 12 | g.55957085T>G | CA480364789 | PMEL | c.1218A>C (p.Ser406=) c.671-26A>C (n.671-26A>C) c.780-26A>C n.235+23A>C c.359-1222A>C (n.359-1222A>C) c.960A>C (p.Ser320=) c.1118-26A>C (n.1118-26A>C) | |
| 12 | g.55957086G>A | CA385216913 | PMEL | c.1217C>T (p.Ser406Leu) c.671-27C>T (n.671-27C>T) c.780-27C>T n.235+22C>T c.359-1223C>T (n.359-1223C>T) c.959C>T (p.Ser320Leu) c.1118-27C>T (n.1118-27C>T) | |
| 12 | g.55957086G>C | CA385216915 | PMEL | c.1217C>G (p.Ser406Ter) c.671-27C>G (n.671-27C>G) c.780-27C>G n.235+22C>G c.359-1223C>G (n.359-1223C>G) c.959C>G (p.Ser320Ter) c.1118-27C>G (n.1118-27C>G) | |
| 12 | g.55957086G>T | CA385216912 | PMEL | c.1217C>A (p.Ser406Ter) c.671-27C>A (n.671-27C>A) c.780-27C>A n.235+22C>A c.359-1223C>A (n.359-1223C>A) c.959C>A (p.Ser320Ter) c.1118-27C>A (n.1118-27C>A) | |
| 12 | g.55957087A= | CA2038181117 | PMEL | c.1216T= (p.Ser406=) c.671-28T= (n.671-28T=) c.780-28T= n.235+21T= c.359-1224T= (n.359-1224T=) c.958T= (p.Ser320=) c.1118-28T= (n.1118-28T=) | |
| 12 | g.55957087A>C | CA385216916 | PMEL | c.1216T>G (p.Ser406Ala) c.671-28T>G (n.671-28T>G) c.780-28T>G n.235+21T>G c.359-1224T>G (n.359-1224T>G) c.958T>G (p.Ser320Ala) c.1118-28T>G (n.1118-28T>G) | |
| 12 | g.55957087A>G | CA385216918 | PMEL | c.1216T>C (p.Ser406Pro) c.671-28T>C (n.671-28T>C) c.780-28T>C n.235+21T>C c.359-1224T>C (n.359-1224T>C) c.958T>C (p.Ser320Pro) c.1118-28T>C (n.1118-28T>C) | dbSNP gnomAD v4 |
| 12 | g.55957087A>T | CA385216920 | PMEL | c.1216T>A (p.Ser406Thr) c.671-28T>A (n.671-28T>A) c.780-28T>A n.235+21T>A c.359-1224T>A (n.359-1224T>A) c.958T>A (p.Ser320Thr) c.1118-28T>A (n.1118-28T>A) | |
| 12 | g.55957088T>A | CA480364796 | PMEL | c.1215A>T (p.Val405=) c.671-29A>T (n.671-29A>T) c.780-29A>T n.235+20A>T c.359-1225A>T (n.359-1225A>T) c.957A>T (p.Val319=) c.1118-29A>T (n.1118-29A>T) | |
| 12 | g.55957088T>C | CA480364795 | PMEL | c.1215A>G (p.Val405=) c.671-29A>G (n.671-29A>G) c.780-29A>G n.235+20A>G c.359-1225A>G (n.359-1225A>G) c.957A>G (p.Val319=) c.1118-29A>G (n.1118-29A>G) | |
| 12 | g.55957088T>G | CA480364794 | PMEL | c.1215A>C (p.Val405=) c.671-29A>C (n.671-29A>C) c.780-29A>C n.235+20A>C c.359-1225A>C (n.359-1225A>C) c.957A>C (p.Val319=) c.1118-29A>C (n.1118-29A>C) | |
| 12 | g.55957089A= | CA2038181127 | PMEL | c.1214T= (p.Val405=) c.671-30T= (n.671-30T=) c.780-30T= n.235+19T= c.359-1226T= (n.359-1226T=) c.956T= (p.Val319=) c.1118-30T= (n.1118-30T=) | |
| 12 | g.55957089A>C | CA385216921 | PMEL | c.1214T>G (p.Val405Gly) c.671-30T>G (n.671-30T>G) c.780-30T>G n.235+19T>G c.359-1226T>G (n.359-1226T>G) c.956T>G (p.Val319Gly) c.1118-30T>G (n.1118-30T>G) | dbSNP |
| 12 | g.55957089A>G | CA385216923 | PMEL | c.1214T>C (p.Val405Ala) c.671-30T>C (n.671-30T>C) c.780-30T>C n.235+19T>C c.359-1226T>C (n.359-1226T>C) c.956T>C (p.Val319Ala) c.1118-30T>C (n.1118-30T>C) | |
| 12 | g.55957089A>T | CA385216924 | PMEL | c.1214T>A (p.Val405Glu) c.671-30T>A (n.671-30T>A) c.780-30T>A n.235+19T>A c.359-1226T>A (n.359-1226T>A) c.956T>A (p.Val319Glu) c.1118-30T>A (n.1118-30T>A) | |
| 12 | g.55957090C>A | CA237590921 | PMEL | c.1213G>T (p.Val405Leu) c.671-31G>T (n.671-31G>T) c.780-31G>T n.235+18G>T c.359-1227G>T (n.359-1227G>T) c.955G>T (p.Val319Leu) c.1118-31G>T (n.1118-31G>T) | dbSNP |
| 12 | g.55957090C= | CA2038181132 | PMEL | c.1213G= (p.Val405=) c.671-31G= (n.671-31G=) c.780-31G= n.235+18G= c.359-1227G= (n.359-1227G=) c.955G= (p.Val319=) c.1118-31G= (n.1118-31G=) | |
| 12 | g.55957090C>G | CA385216927 | PMEL | c.1213G>C (p.Val405Leu) c.671-31G>C (n.671-31G>C) c.780-31G>C n.235+18G>C c.359-1227G>C (n.359-1227G>C) c.955G>C (p.Val319Leu) c.1118-31G>C (n.1118-31G>C) | |
| 12 | g.55957090C>T | CA385216926 | PMEL | c.1213G>A (p.Val405Ile) c.671-31G>A (n.671-31G>A) c.780-31G>A n.235+18G>A c.359-1227G>A (n.359-1227G>A) c.955G>A (p.Val319Ile) c.1118-31G>A (n.1118-31G>A) | dbSNP |
| 12 | g.55957091C>A | CA385216928 | PMEL | c.1212G>T (p.Glu404Asp) c.671-32G>T (n.671-32G>T) c.780-32G>T n.235+17G>T c.359-1228G>T (n.359-1228G>T) c.954G>T (p.Glu318Asp) c.1118-32G>T (n.1118-32G>T) | |
| 12 | g.55957091C= | CA2038181138 | PMEL | c.1212G= (p.Glu404=) c.671-32G= (n.671-32G=) c.780-32G= n.235+17G= c.359-1228G= (n.359-1228G=) c.954G= (p.Glu318=) c.1118-32G= (n.1118-32G=) | |
| 12 | g.55957091C>G | CA385216929 | PMEL | c.1212G>C (p.Glu404Asp) c.671-32G>C (n.671-32G>C) c.780-32G>C n.235+17G>C c.359-1228G>C (n.359-1228G>C) c.954G>C (p.Glu318Asp) c.1118-32G>C (n.1118-32G>C) | dbSNP gnomAD v4 |
| 12 | g.55957091C>T | CA480364802 | PMEL | c.1212G>A (p.Glu404=) c.671-32G>A (n.671-32G>A) c.780-32G>A n.235+17G>A c.359-1228G>A (n.359-1228G>A) c.954G>A (p.Glu318=) c.1118-32G>A (n.1118-32G>A) | |
| 12 | g.55957092T>A | CA385216931 | PMEL | c.1211A>T (p.Glu404Val) c.671-33A>T (n.671-33A>T) c.780-33A>T n.235+16A>T c.359-1229A>T (n.359-1229A>T) c.953A>T (p.Glu318Val) c.1118-33A>T (n.1118-33A>T) | |
| 12 | g.55957092T>C | CA385216932 | PMEL | c.1211A>G (p.Glu404Gly) c.671-33A>G (n.671-33A>G) c.780-33A>G n.235+16A>G c.359-1229A>G (n.359-1229A>G) c.953A>G (p.Glu318Gly) c.1118-33A>G (n.1118-33A>G) | gnomAD v4 |
| 12 | g.55957092T>G | CA385216934 | PMEL | c.1211A>C (p.Glu404Ala) c.671-33A>C (n.671-33A>C) c.780-33A>C n.235+16A>C c.359-1229A>C (n.359-1229A>C) c.953A>C (p.Glu318Ala) c.1118-33A>C (n.1118-33A>C) | |
| 12 | g.55957093C>A | CA385216939 | PMEL | c.1210G>T (p.Glu404Ter) c.671-34G>T (n.671-34G>T) c.780-34G>T n.235+15G>T c.359-1230G>T (n.359-1230G>T) c.952G>T (p.Glu318Ter) c.1118-34G>T (n.1118-34G>T) | |
| 12 | g.55957093C>G | CA385216937 | PMEL | c.1210G>C (p.Glu404Gln) c.671-34G>C (n.671-34G>C) c.780-34G>C n.235+15G>C c.359-1230G>C (n.359-1230G>C) c.952G>C (p.Glu318Gln) c.1118-34G>C (n.1118-34G>C) | |
| 12 | g.55957093C>T | CA385216936 | PMEL | c.1210G>A (p.Glu404Lys) c.671-34G>A (n.671-34G>A) c.780-34G>A n.235+15G>A c.359-1230G>A (n.359-1230G>A) c.952G>A (p.Glu318Lys) c.1118-34G>A (n.1118-34G>A) | |
| 12 | g.55957094T>A | CA480364807 | PMEL | c.1209A>T (p.Ala403=) c.671-35A>T (n.671-35A>T) c.780-35A>T n.235+14A>T c.359-1231A>T (n.359-1231A>T) c.951A>T (p.Ala317=) c.1118-35A>T (n.1118-35A>T) | |
| 12 | g.55957094T>C | CA6620054 | PMEL | c.1209A>G (p.Ala403=) c.671-35A>G (n.671-35A>G) c.780-35A>G n.235+14A>G c.359-1231A>G (n.359-1231A>G) c.951A>G (p.Ala317=) c.1118-35A>G (n.1118-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957094T>G | CA480364808 | PMEL | c.1209A>C (p.Ala403=) c.671-35A>C (n.671-35A>C) c.780-35A>C n.235+14A>C c.359-1231A>C (n.359-1231A>C) c.951A>C (p.Ala317=) c.1118-35A>C (n.1118-35A>C) | |
| 12 | g.55957094T= | CA2038181140 | PMEL | c.1209A= (p.Ala403=) c.671-35A= (n.671-35A=) c.780-35A= n.235+14A= c.359-1231A= (n.359-1231A=) c.951A= (p.Ala317=) c.1118-35A= (n.1118-35A=) | |
| 12 | g.55957095G>A | CA385216944 | PMEL | c.1208C>T (p.Ala403Val) c.671-36C>T (n.671-36C>T) c.780-36C>T n.235+13C>T c.359-1232C>T (n.359-1232C>T) c.950C>T (p.Ala317Val) c.1118-36C>T (n.1118-36C>T) | |
| 12 | g.55957095G>C | CA385216941 | PMEL | c.1208C>G (p.Ala403Gly) c.671-36C>G (n.671-36C>G) c.780-36C>G n.235+13C>G c.359-1232C>G (n.359-1232C>G) c.950C>G (p.Ala317Gly) c.1118-36C>G (n.1118-36C>G) | |
| 12 | g.55957095G>T | CA385216942 | PMEL | c.1208C>A (p.Ala403Glu) c.671-36C>A (n.671-36C>A) c.780-36C>A n.235+13C>A c.359-1232C>A (n.359-1232C>A) c.950C>A (p.Ala317Glu) c.1118-36C>A (n.1118-36C>A) | |
| 12 | g.55957096C>A | CA385216946 | PMEL | c.1207G>T (p.Ala403Ser) c.671-37G>T (n.671-37G>T) c.780-37G>T n.235+12G>T c.359-1233G>T (n.359-1233G>T) c.949G>T (p.Ala317Ser) c.1118-37G>T (n.1118-37G>T) | |
| 12 | g.55957096C= | CA2038181144 | PMEL | c.1207G= (p.Ala403=) c.671-37G= (n.671-37G=) c.780-37G= n.235+12G= c.359-1233G= (n.359-1233G=) c.949G= (p.Ala317=) c.1118-37G= (n.1118-37G=) | |
| 12 | g.55957096C>G | CA385216947 | PMEL | c.1207G>C (p.Ala403Pro) c.671-37G>C (n.671-37G>C) c.780-37G>C n.235+12G>C c.359-1233G>C (n.359-1233G>C) c.949G>C (p.Ala317Pro) c.1118-37G>C (n.1118-37G>C) | |
| 12 | g.55957096C>T | CA385216949 | PMEL | c.1207G>A (p.Ala403Thr) c.671-37G>A (n.671-37G>A) c.780-37G>A n.235+12G>A c.359-1233G>A (n.359-1233G>A) c.949G>A (p.Ala317Thr) c.1118-37G>A (n.1118-37G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957097A= | CA2038181147 | PMEL | c.1206T= (p.Pro402=) c.671-38T= (n.671-38T=) c.780-38T= n.235+11T= c.359-1234T= (n.359-1234T=) c.948T= (p.Pro316=) c.1118-38T= (n.1118-38T=) | |
| 12 | g.55957097A>C | CA480364813 | PMEL | c.1206T>G (p.Pro402=) c.671-38T>G (n.671-38T>G) c.780-38T>G n.235+11T>G c.359-1234T>G (n.359-1234T>G) c.948T>G (p.Pro316=) c.1118-38T>G (n.1118-38T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957097A>G | CA480364815 | PMEL | c.1206T>C (p.Pro402=) c.671-38T>C (n.671-38T>C) c.780-38T>C n.235+11T>C c.359-1234T>C (n.359-1234T>C) c.948T>C (p.Pro316=) c.1118-38T>C (n.1118-38T>C) | dbSNP |
| 12 | g.55957097A>T | CA480364818 | PMEL | c.1206T>A (p.Pro402=) c.671-38T>A (n.671-38T>A) c.780-38T>A n.235+11T>A c.359-1234T>A (n.359-1234T>A) c.948T>A (p.Pro316=) c.1118-38T>A (n.1118-38T>A) | |
| 12 | g.55957097_55957098delinsAG | CA2038181150 | PMEL | c.1205_1206delinsCT (p.Pro402=) c.671-39_671-38delinsCT (n.671-39_671-38delinsCT) c.780-39_780-38delinsCT n.235+10_235+11delinsCT c.359-1235_359-1234delinsCT (n.359-1235_359-1234delinsCT) c.947_948delinsCT (p.Pro316=) c.1118-39_1118-38delinsCT (n.1118-39_1118-38delinsCT) | |
| 12 | g.55957098G>A | CA385216951 | PMEL | c.1205C>T (p.Pro402Leu) c.671-39C>T (n.671-39C>T) c.780-39C>T n.235+10C>T c.359-1235C>T (n.359-1235C>T) c.947C>T (p.Pro316Leu) c.1118-39C>T (n.1118-39C>T) | gnomAD v4 |
| 12 | g.55957098G>C | CA385216953 | PMEL | c.1205C>G (p.Pro402Arg) c.671-39C>G (n.671-39C>G) c.780-39C>G n.235+10C>G c.359-1235C>G (n.359-1235C>G) c.947C>G (p.Pro316Arg) c.1118-39C>G (n.1118-39C>G) | |
| 12 | g.55957098G= | CA2038181154 | PMEL | c.1205C= (p.Pro402=) c.671-39C= (n.671-39C=) c.780-39C= n.235+10C= c.359-1235C= (n.359-1235C=) c.947C= (p.Pro316=) c.1118-39C= (n.1118-39C=) | |
| 12 | g.55957098G>T | CA385216954 | PMEL | c.1205C>A (p.Pro402His) c.671-39C>A (n.671-39C>A) c.780-39C>A n.235+10C>A c.359-1235C>A (n.359-1235C>A) c.947C>A (p.Pro316His) c.1118-39C>A (n.1118-39C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957099del | CA2038181153 | PMEL | c.1205del (p.Pro402LeufsTer17) c.671-39del (n.671-39del) c.780-39del n.235+10del c.359-1235del (n.359-1235del) c.947del (p.Pro316LeufsTer17) c.1118-39del (n.1118-39del) | dbSNP |
| 12 | g.55957099G>A | CA385216956 | PMEL | c.1204C>T (p.Pro402Ser) c.671-40C>T (n.671-40C>T) c.780-40C>T n.235+9C>T c.359-1236C>T (n.359-1236C>T) c.946C>T (p.Pro316Ser) c.1118-40C>T (n.1118-40C>T) | dbSNP |
| 12 | g.55957099G>C | CA385216958 | PMEL | c.1204C>G (p.Pro402Ala) c.671-40C>G (n.671-40C>G) c.780-40C>G n.235+9C>G c.359-1236C>G (n.359-1236C>G) c.946C>G (p.Pro316Ala) c.1118-40C>G (n.1118-40C>G) | |
| 12 | g.55957099G= | CA2038181159 | PMEL | c.1204C= (p.Pro402=) c.671-40C= (n.671-40C=) c.780-40C= n.235+9C= c.359-1236C= (n.359-1236C=) c.946C= (p.Pro316=) c.1118-40C= (n.1118-40C=) | |
| 12 | g.55957099G>T | CA385216959 | PMEL | c.1204C>A (p.Pro402Thr) c.671-40C>A (n.671-40C>A) c.780-40C>A n.235+9C>A c.359-1236C>A (n.359-1236C>A) c.946C>A (p.Pro316Thr) c.1118-40C>A (n.1118-40C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957100T>A | CA480364821 | PMEL | c.1203A>T (p.Thr401=) c.671-41A>T (n.671-41A>T) c.780-41A>T n.235+8A>T c.359-1237A>T (n.359-1237A>T) c.945A>T (p.Thr315=) c.1118-41A>T (n.1118-41A>T) | |
| 12 | g.55957100T>C | CA480364823 | PMEL | c.1203A>G (p.Thr401=) c.671-41A>G (n.671-41A>G) c.780-41A>G n.235+8A>G c.359-1237A>G (n.359-1237A>G) c.945A>G (p.Thr315=) c.1118-41A>G (n.1118-41A>G) | |
| 12 | g.55957100T>G | CA480364822 | PMEL | c.1203A>C (p.Thr401=) c.671-41A>C (n.671-41A>C) c.780-41A>C n.235+8A>C c.359-1237A>C (n.359-1237A>C) c.945A>C (p.Thr315=) c.1118-41A>C (n.1118-41A>C) | |
| 12 | g.55957100_55957101insAGCACACAGCTGCCTCCATCAGCCACCAAAGTAGGCAAGACTCACGGACAATGTCCAG | CA2619240951 | PMEL | c.1202_1203insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT (p.Pro402TrpfsTer13) c.671-42_671-41insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT (n.671-42_671-41insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT) c.780-42_780-41insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT n.235+7_235+8insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT c.359-1238_359-1237insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT (n.359-1238_359-1237insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT) c.944_945insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT (p.Pro316TrpfsTer13) c.1118-42_1118-41insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT (n.1118-42_1118-41insCTGGACATTGTCCGTGAGTCTTGCCTACTTTGGTGGCTGATGGAGGCAGCTGTGTGCT) | gnomAD v4 |
| 12 | g.55957101G>A | CA385216964 | PMEL | c.1202C>T (p.Thr401Ile) c.671-42C>T (n.671-42C>T) c.780-42C>T n.235+7C>T c.359-1238C>T (n.359-1238C>T) c.944C>T (p.Thr315Ile) c.1118-42C>T (n.1118-42C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957101G>C | CA385216963 | PMEL | c.1202C>G (p.Thr401Arg) c.671-42C>G (n.671-42C>G) c.780-42C>G n.235+7C>G c.359-1238C>G (n.359-1238C>G) c.944C>G (p.Thr315Arg) c.1118-42C>G (n.1118-42C>G) | gnomAD v4 |
| 12 | g.55957101G= | CA2038181163 | PMEL | c.1202C= (p.Thr401=) c.671-42C= (n.671-42C=) c.780-42C= n.235+7C= c.359-1238C= (n.359-1238C=) c.944C= (p.Thr315=) c.1118-42C= (n.1118-42C=) | |
| 12 | g.55957101G>T | CA385216961 | PMEL | c.1202C>A (p.Thr401Lys) c.671-42C>A (n.671-42C>A) c.780-42C>A n.235+7C>A c.359-1238C>A (n.359-1238C>A) c.944C>A (p.Thr315Lys) c.1118-42C>A (n.1118-42C>A) |