Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.55957184A>C | CA385217246 | PMEL | c.1119T>G (p.Gly373=) c.957T>G (p.Gly319=) c.670+2T>G (n.670+2T>G) c.779+2T>G n.159T>G c.358+1289T>G (n.358+1289T>G) c.861T>G (p.Gly287=) c.1117+2T>G (n.1117+2T>G) | |
12 | g.55957184A>G | CA385217244 | PMEL | c.1119T>C (p.Gly373=) c.957T>C (p.Gly319=) c.670+2T>C (n.670+2T>C) c.779+2T>C n.159T>C c.358+1289T>C (n.358+1289T>C) c.861T>C (p.Gly287=) c.1117+2T>C (n.1117+2T>C) | gnomAD v4 |
12 | g.55957184A>T | CA385217242 | PMEL | c.1119T>A (p.Gly373=) c.957T>A (p.Gly319=) c.670+2T>A (n.670+2T>A) c.779+2T>A n.159T>A c.358+1289T>A (n.358+1289T>A) c.861T>A (p.Gly287=) c.1117+2T>A (n.1117+2T>A) | |
12 | g.55957185C>A | CA385217247 | PMEL | c.1118G>T (p.Gly373Val) c.956G>T (p.Gly319Val) c.670+1G>T (n.670+1G>T) c.779+1G>T n.158G>T c.358+1288G>T (n.358+1288G>T) c.860G>T (p.Gly287Val) c.1117+1G>T (n.1117+1G>T) | gnomAD v4 |
12 | g.55957185C= | CA2038181277 | PMEL | c.1118G= (p.Gly373=) c.956G= (p.Gly319=) c.670+1G= (n.670+1G=) c.779+1G= n.158G= c.358+1288G= (n.358+1288G=) c.860G= (p.Gly287=) c.1117+1G= (n.1117+1G=) | |
12 | g.55957185C>G | CA385217248 | PMEL | c.1118G>C (p.Gly373Ala) c.956G>C (p.Gly319Ala) c.670+1G>C (n.670+1G>C) c.779+1G>C n.158G>C c.358+1288G>C (n.358+1288G>C) c.860G>C (p.Gly287Ala) c.1117+1G>C (n.1117+1G>C) | |
12 | g.55957185C>T | CA6620068 | PMEL | c.1118G>A (p.Gly373Asp) c.956G>A (p.Gly319Asp) c.670+1G>A (n.670+1G>A) c.779+1G>A n.158G>A c.358+1288G>A (n.358+1288G>A) c.860G>A (p.Gly287Asp) c.1117+1G>A (n.1117+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957186C>A | CA385217250 | PMEL | c.1117G>T (p.Gly373Cys) c.955G>T (p.Gly319Cys) c.670G>T (p.Ala224Ser) c.779G>T n.157G>T c.358+1287G>T (n.358+1287G>T) c.859G>T (p.Gly287Cys) c.1117G>T (p.Ala373Ser) | |
12 | g.55957186C= | CA2038181280 | PMEL | c.1117G= (p.Gly373=) c.955G= (p.Gly319=) c.670G= (p.Ala224=) c.779G= n.157G= c.358+1287G= (n.358+1287G=) c.859G= (p.Gly287=) c.1117G= (p.Ala373=) | |
12 | g.55957186C>G | CA385217252 | PMEL | c.1117G>C (p.Gly373Arg) c.955G>C (p.Gly319Arg) c.670G>C (p.Ala224Pro) c.779G>C n.157G>C c.358+1287G>C (n.358+1287G>C) c.859G>C (p.Gly287Arg) c.1117G>C (p.Ala373Pro) | gnomAD v4 |
12 | g.55957186C>T | CA385217253 | PMEL | c.1117G>A (p.Gly373Ser) c.955G>A (p.Gly319Ser) c.670G>A (p.Ala224Thr) c.779G>A n.157G>A c.358+1287G>A (n.358+1287G>A) c.859G>A (p.Gly287Ser) c.1117G>A (p.Ala373Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55957187T>A | CA480364983 | PMEL | c.1116A>T (p.Thr372=) c.954A>T (p.Thr318=) c.669A>T (p.Thr223=) c.778A>T n.156A>T c.358+1286A>T (n.358+1286A>T) c.858A>T (p.Thr286=) | |
12 | g.55957187T>C | CA480364985 | PMEL | c.1116A>G (p.Thr372=) c.954A>G (p.Thr318=) c.669A>G (p.Thr223=) c.778A>G n.156A>G c.358+1286A>G (n.358+1286A>G) c.858A>G (p.Thr286=) | |
12 | g.55957187T>G | CA480364986 | PMEL | c.1116A>C (p.Thr372=) c.954A>C (p.Thr318=) c.669A>C (p.Thr223=) c.778A>C n.156A>C c.358+1286A>C (n.358+1286A>C) c.858A>C (p.Thr286=) | |
12 | g.55957188G>A | CA385217258 | PMEL | c.1115C>T (p.Thr372Ile) c.953C>T (p.Thr318Ile) c.668C>T (p.Thr223Ile) c.777C>T n.155C>T c.358+1285C>T (n.358+1285C>T) c.857C>T (p.Thr286Ile) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55957188G>C | CA385217255 | PMEL | c.1115C>G (p.Thr372Arg) c.953C>G (p.Thr318Arg) c.668C>G (p.Thr223Arg) c.777C>G n.155C>G c.358+1285C>G (n.358+1285C>G) c.857C>G (p.Thr286Arg) | |
12 | g.55957188G= | CA2038181283 | PMEL | c.1115C= (p.Thr372=) c.953C= (p.Thr318=) c.668C= (p.Thr223=) c.777C= n.155C= c.358+1285C= (n.358+1285C=) c.857C= (p.Thr286=) | |
12 | g.55957188G>T | CA385217256 | PMEL | c.1115C>A (p.Thr372Lys) c.953C>A (p.Thr318Lys) c.668C>A (p.Thr223Lys) c.777C>A n.155C>A c.358+1285C>A (n.358+1285C>A) c.857C>A (p.Thr286Lys) | |
12 | g.55957189T>A | CA385217260 | PMEL | c.1114A>T (p.Thr372Ser) c.952A>T (p.Thr318Ser) c.667A>T (p.Thr223Ser) c.776A>T n.154A>T c.358+1284A>T (n.358+1284A>T) c.856A>T (p.Thr286Ser) | |
12 | g.55957189T>C | CA385217262 | PMEL | c.1114A>G (p.Thr372Ala) c.952A>G (p.Thr318Ala) c.667A>G (p.Thr223Ala) c.776A>G n.154A>G c.358+1284A>G (n.358+1284A>G) c.856A>G (p.Thr286Ala) | |
12 | g.55957189T>G | CA385217264 | PMEL | c.1114A>C (p.Thr372Pro) c.952A>C (p.Thr318Pro) c.667A>C (p.Thr223Pro) c.776A>C n.154A>C c.358+1284A>C (n.358+1284A>C) c.856A>C (p.Thr286Pro) | |
12 | g.55957190G>A | CA480364989 | PMEL | c.1113C>T (p.Ser371=) c.951C>T (p.Ser317=) c.666C>T (p.Ser222=) c.775C>T n.153C>T c.358+1283C>T (n.358+1283C>T) c.855C>T (p.Ser285=) | |
12 | g.55957190G>C | CA385217266 | PMEL | c.1113C>G (p.Ser371Arg) c.951C>G (p.Ser317Arg) c.666C>G (p.Ser222Arg) c.775C>G n.153C>G c.358+1283C>G (n.358+1283C>G) c.855C>G (p.Ser285Arg) | |
12 | g.55957190G>T | CA385217267 | PMEL | c.1113C>A (p.Ser371Arg) c.951C>A (p.Ser317Arg) c.666C>A (p.Ser222Arg) c.775C>A n.153C>A c.358+1283C>A (n.358+1283C>A) c.855C>A (p.Ser285Arg) | |
12 | g.55957191C>A | CA385217268 | PMEL | c.1112G>T (p.Ser371Ile) c.950G>T (p.Ser317Ile) c.665G>T (p.Ser222Ile) c.774G>T n.152G>T c.358+1282G>T (n.358+1282G>T) c.854G>T (p.Ser285Ile) | |
12 | g.55957191C= | CA2038181288 | PMEL | c.1112G= (p.Ser371=) c.950G= (p.Ser317=) c.665G= (p.Ser222=) c.774G= n.152G= c.358+1282G= (n.358+1282G=) c.854G= (p.Ser285=) | |
12 | g.55957191C>G | CA6620069 | PMEL | c.1112G>C (p.Ser371Thr) c.950G>C (p.Ser317Thr) c.665G>C (p.Ser222Thr) c.774G>C n.152G>C c.358+1282G>C (n.358+1282G>C) c.854G>C (p.Ser285Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957191C>T | CA385217271 | PMEL | c.1112G>A (p.Ser371Asn) c.950G>A (p.Ser317Asn) c.665G>A (p.Ser222Asn) c.774G>A n.152G>A c.358+1282G>A (n.358+1282G>A) c.854G>A (p.Ser285Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957192T>A | CA385217273 | PMEL | c.1111A>T (p.Ser371Cys) c.949A>T (p.Ser317Cys) c.664A>T (p.Ser222Cys) c.773A>T n.151A>T c.358+1281A>T (n.358+1281A>T) c.853A>T (p.Ser285Cys) | |
12 | g.55957192T>C | CA385217275 | PMEL | c.1111A>G (p.Ser371Gly) c.949A>G (p.Ser317Gly) c.664A>G (p.Ser222Gly) c.773A>G n.151A>G c.358+1281A>G (n.358+1281A>G) c.853A>G (p.Ser285Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957192T>G | CA385217277 | PMEL | c.1111A>C (p.Ser371Arg) c.949A>C (p.Ser317Arg) c.664A>C (p.Ser222Arg) c.773A>C n.151A>C c.358+1281A>C (n.358+1281A>C) c.853A>C (p.Ser285Arg) | gnomAD v4 |
12 | g.55957192T= | CA2038181292 | PMEL | c.1111A= (p.Ser371=) c.949A= (p.Ser317=) c.664A= (p.Ser222=) c.773A= n.151A= c.358+1281A= (n.358+1281A=) c.853A= (p.Ser285=) | |
12 | g.55957193C>A | CA385217279 | PMEL | c.1110G>T (p.Glu370Asp) c.948G>T (p.Glu316Asp) c.663G>T (p.Glu221Asp) c.772G>T n.150G>T c.358+1280G>T (n.358+1280G>T) c.852G>T (p.Glu284Asp) | COSMIC COSMIC |
12 | g.55957193C= | CA2038181296 | PMEL | c.1110G= (p.Glu370=) c.948G= (p.Glu316=) c.663G= (p.Glu221=) c.772G= n.150G= c.358+1280G= (n.358+1280G=) c.852G= (p.Glu284=) | |
12 | g.55957193C>G | CA6620070 | PMEL | c.1110G>C (p.Glu370Asp) c.948G>C (p.Glu316Asp) c.663G>C (p.Glu221Asp) c.772G>C n.150G>C c.358+1280G>C (n.358+1280G>C) c.852G>C (p.Glu284Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957193C>T | CA480364993 | PMEL | c.1110G>A (p.Glu370=) c.948G>A (p.Glu316=) c.663G>A (p.Glu221=) c.772G>A n.150G>A c.358+1280G>A (n.358+1280G>A) c.852G>A (p.Glu284=) | gnomAD v4 |
12 | g.55957194T>A | CA385217280 | PMEL | c.1109A>T (p.Glu370Val) c.947A>T (p.Glu316Val) c.662A>T (p.Glu221Val) c.771A>T n.149A>T c.358+1279A>T (n.358+1279A>T) c.851A>T (p.Glu284Val) | |
12 | g.55957194T>C | CA385217283 | PMEL | c.1109A>G (p.Glu370Gly) c.947A>G (p.Glu316Gly) c.662A>G (p.Glu221Gly) c.771A>G n.149A>G c.358+1279A>G (n.358+1279A>G) c.851A>G (p.Glu284Gly) | |
12 | g.55957194T>G | CA385217282 | PMEL | c.1109A>C (p.Glu370Ala) c.947A>C (p.Glu316Ala) c.662A>C (p.Glu221Ala) c.771A>C n.149A>C c.358+1279A>C (n.358+1279A>C) c.851A>C (p.Glu284Ala) | |
12 | g.55957195C>A | CA385217284 | PMEL | c.1108G>T (p.Glu370Ter) c.946G>T (p.Glu316Ter) c.661G>T (p.Glu221Ter) c.770G>T n.148G>T c.358+1278G>T (n.358+1278G>T) c.850G>T (p.Glu284Ter) | |
12 | g.55957195C>G | CA385217286 | PMEL | c.1108G>C (p.Glu370Gln) c.946G>C (p.Glu316Gln) c.661G>C (p.Glu221Gln) c.770G>C n.148G>C c.358+1278G>C (n.358+1278G>C) c.850G>C (p.Glu284Gln) | |
12 | g.55957195C>T | CA385217287 | PMEL | c.1108G>A (p.Glu370Lys) c.946G>A (p.Glu316Lys) c.661G>A (p.Glu221Lys) c.770G>A n.148G>A c.358+1278G>A (n.358+1278G>A) c.850G>A (p.Glu284Lys) | |
12 | g.55957196T>A | CA480364997 | PMEL | c.1107A>T (p.Ala369=) c.945A>T (p.Ala315=) c.660A>T (p.Ala220=) c.769A>T n.147A>T c.358+1277A>T (n.358+1277A>T) c.849A>T (p.Ala283=) | |
12 | g.55957196T>C | CA480364999 | PMEL | c.1107A>G (p.Ala369=) c.945A>G (p.Ala315=) c.660A>G (p.Ala220=) c.769A>G n.147A>G c.358+1277A>G (n.358+1277A>G) c.849A>G (p.Ala283=) | |
12 | g.55957196T>G | CA480365001 | PMEL | c.1107A>C (p.Ala369=) c.945A>C (p.Ala315=) c.660A>C (p.Ala220=) c.769A>C n.147A>C c.358+1277A>C (n.358+1277A>C) c.849A>C (p.Ala283=) | gnomAD v4 |
12 | g.55957197G>A | CA385217290 | PMEL | c.1106C>T (p.Ala369Val) c.944C>T (p.Ala315Val) c.659C>T (p.Ala220Val) c.768C>T n.146C>T c.358+1276C>T (n.358+1276C>T) c.848C>T (p.Ala283Val) | |
12 | g.55957197G>C | CA385217291 | PMEL | c.1106C>G (p.Ala369Gly) c.944C>G (p.Ala315Gly) c.659C>G (p.Ala220Gly) c.768C>G n.146C>G c.358+1276C>G (n.358+1276C>G) c.848C>G (p.Ala283Gly) | |
12 | g.55957197G>T | CA385217293 | PMEL | c.1106C>A (p.Ala369Glu) c.944C>A (p.Ala315Glu) c.659C>A (p.Ala220Glu) c.768C>A n.146C>A c.358+1276C>A (n.358+1276C>A) c.848C>A (p.Ala283Glu) | |
12 | g.55957198C>A | CA385217294 | PMEL | c.1105G>T (p.Ala369Ser) c.943G>T (p.Ala315Ser) c.658G>T (p.Ala220Ser) c.767G>T n.145G>T c.358+1275G>T (n.358+1275G>T) c.847G>T (p.Ala283Ser) | |
12 | g.55957198C>G | CA385217295 | PMEL | c.1105G>C (p.Ala369Pro) c.943G>C (p.Ala315Pro) c.658G>C (p.Ala220Pro) c.767G>C n.145G>C c.358+1275G>C (n.358+1275G>C) c.847G>C (p.Ala283Pro) | |
12 | g.55957198C>T | CA385217296 | PMEL | c.1105G>A (p.Ala369Thr) c.943G>A (p.Ala315Thr) c.658G>A (p.Ala220Thr) c.767G>A n.145G>A c.358+1275G>A (n.358+1275G>A) c.847G>A (p.Ala283Thr) | |
12 | g.55957199A>C | CA480365008 | PMEL | c.1104T>G (p.Thr368=) c.942T>G (p.Thr314=) c.657T>G (p.Thr219=) c.766T>G n.144T>G c.358+1274T>G (n.358+1274T>G) c.846T>G (p.Thr282=) | |
12 | g.55957199A>G | CA480365007 | PMEL | c.1104T>C (p.Thr368=) c.942T>C (p.Thr314=) c.657T>C (p.Thr219=) c.766T>C n.144T>C c.358+1274T>C (n.358+1274T>C) c.846T>C (p.Thr282=) | dbSNP |
12 | g.55957199A>T | CA480365006 | PMEL | c.1104T>A (p.Thr368=) c.942T>A (p.Thr314=) c.657T>A (p.Thr219=) c.766T>A n.144T>A c.358+1274T>A (n.358+1274T>A) c.846T>A (p.Thr282=) | |
12 | g.55957200G>A | CA385217298 | PMEL | c.1103C>T (p.Thr368Ile) c.941C>T (p.Thr314Ile) c.656C>T (p.Thr219Ile) c.765C>T n.143C>T c.358+1273C>T (n.358+1273C>T) c.845C>T (p.Thr282Ile) | |
12 | g.55957200G>C | CA385217300 | PMEL | c.1103C>G (p.Thr368Ser) c.941C>G (p.Thr314Ser) c.656C>G (p.Thr219Ser) c.765C>G n.143C>G c.358+1273C>G (n.358+1273C>G) c.845C>G (p.Thr282Ser) | |
12 | g.55957200G>T | CA385217301 | PMEL | c.1103C>A (p.Thr368Asn) c.941C>A (p.Thr314Asn) c.656C>A (p.Thr219Asn) c.765C>A n.143C>A c.358+1273C>A (n.358+1273C>A) c.845C>A (p.Thr282Asn) | gnomAD v4 |
12 | g.55957201T>A | CA385217307 | PMEL | c.1102A>T (p.Thr368Ser) c.940A>T (p.Thr314Ser) c.655A>T (p.Thr219Ser) c.764A>T n.142A>T c.358+1272A>T (n.358+1272A>T) c.844A>T (p.Thr282Ser) | |
12 | g.55957201T>C | CA385217305 | PMEL | c.1102A>G (p.Thr368Ala) c.940A>G (p.Thr314Ala) c.655A>G (p.Thr219Ala) c.764A>G n.142A>G c.358+1272A>G (n.358+1272A>G) c.844A>G (p.Thr282Ala) | |
12 | g.55957201T>G | CA385217303 | PMEL | c.1102A>C (p.Thr368Pro) c.940A>C (p.Thr314Pro) c.655A>C (p.Thr219Pro) c.764A>C n.142A>C c.358+1272A>C (n.358+1272A>C) c.844A>C (p.Thr282Pro) | |
12 | g.55957202T>A | CA480365014 | PMEL | c.1101A>T (p.Pro367=) c.939A>T (p.Pro313=) c.654A>T (p.Pro218=) c.763A>T n.141A>T c.358+1271A>T (n.358+1271A>T) c.843A>T (p.Pro281=) | |
12 | g.55957202T>C | CA480365012 | PMEL | c.1101A>G (p.Pro367=) c.939A>G (p.Pro313=) c.654A>G (p.Pro218=) c.763A>G n.141A>G c.358+1271A>G (n.358+1271A>G) c.843A>G (p.Pro281=) | |
12 | g.55957202T>G | CA480365010 | PMEL | c.1101A>C (p.Pro367=) c.939A>C (p.Pro313=) c.654A>C (p.Pro218=) c.763A>C n.141A>C c.358+1271A>C (n.358+1271A>C) c.843A>C (p.Pro281=) | |
12 | g.55957203G>A | CA385217309 | PMEL | c.1100C>T (p.Pro367Leu) c.938C>T (p.Pro313Leu) c.653C>T (p.Pro218Leu) c.762C>T n.140C>T c.358+1270C>T (n.358+1270C>T) c.842C>T (p.Pro281Leu) | |
12 | g.55957203G>C | CA385217310 | PMEL | c.1100C>G (p.Pro367Arg) c.938C>G (p.Pro313Arg) c.653C>G (p.Pro218Arg) c.762C>G n.140C>G c.358+1270C>G (n.358+1270C>G) c.842C>G (p.Pro281Arg) | |
12 | g.55957203G>T | CA385217312 | PMEL | c.1100C>A (p.Pro367Gln) c.938C>A (p.Pro313Gln) c.653C>A (p.Pro218Gln) c.762C>A n.140C>A c.358+1270C>A (n.358+1270C>A) c.842C>A (p.Pro281Gln) | |
12 | g.55957204G>A | CA237590966 | PMEL | c.1099C>T (p.Pro367Ser) c.937C>T (p.Pro313Ser) c.652C>T (p.Pro218Ser) c.761C>T n.139C>T c.358+1269C>T (n.358+1269C>T) c.841C>T (p.Pro281Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.55957204G>C | CA385217314 | PMEL | c.1099C>G (p.Pro367Ala) c.937C>G (p.Pro313Ala) c.652C>G (p.Pro218Ala) c.761C>G n.139C>G c.358+1269C>G (n.358+1269C>G) c.841C>G (p.Pro281Ala) | |
12 | g.55957204G= | CA2038181301 | PMEL | c.1099C= (p.Pro367=) c.937C= (p.Pro313=) c.652C= (p.Pro218=) c.761C= n.139C= c.358+1269C= (n.358+1269C=) c.841C= (p.Pro281=) | |
12 | g.55957204G>T | CA385217315 | PMEL | c.1099C>A (p.Pro367Thr) c.937C>A (p.Pro313Thr) c.652C>A (p.Pro218Thr) c.761C>A n.139C>A c.358+1269C>A (n.358+1269C>A) c.841C>A (p.Pro281Thr) | |
12 | g.55957205C>A | CA385217318 | PMEL | c.1098G>T (p.Met366Ile) c.936G>T (p.Met312Ile) c.651G>T (p.Met217Ile) c.760G>T n.138G>T c.358+1268G>T (n.358+1268G>T) c.840G>T (p.Met280Ile) | |
12 | g.55957205C>G | CA385217320 | PMEL | c.1098G>C (p.Met366Ile) c.936G>C (p.Met312Ile) c.651G>C (p.Met217Ile) c.760G>C n.138G>C c.358+1268G>C (n.358+1268G>C) c.840G>C (p.Met280Ile) | |
12 | g.55957205C>T | CA385217321 | PMEL | c.1098G>A (p.Met366Ile) c.936G>A (p.Met312Ile) c.651G>A (p.Met217Ile) c.760G>A n.138G>A c.358+1268G>A (n.358+1268G>A) c.840G>A (p.Met280Ile) | |
12 | g.55957206A>C | CA385217323 | PMEL | c.1097T>G (p.Met366Arg) c.935T>G (p.Met312Arg) c.650T>G (p.Met217Arg) c.759T>G n.137T>G c.358+1267T>G (n.358+1267T>G) c.839T>G (p.Met280Arg) | |
12 | g.55957206A>G | CA385217325 | PMEL | c.1097T>C (p.Met366Thr) c.935T>C (p.Met312Thr) c.650T>C (p.Met217Thr) c.759T>C n.137T>C c.358+1267T>C (n.358+1267T>C) c.839T>C (p.Met280Thr) | |
12 | g.55957206A>T | CA385217326 | PMEL | c.1097T>A (p.Met366Lys) c.935T>A (p.Met312Lys) c.650T>A (p.Met217Lys) c.759T>A n.137T>A c.358+1267T>A (n.358+1267T>A) c.839T>A (p.Met280Lys) | |
12 | g.55957207T>A | CA385217331 | PMEL | c.1096A>T (p.Met366Leu) c.934A>T (p.Met312Leu) c.649A>T (p.Met217Leu) c.758A>T n.136A>T c.358+1266A>T (n.358+1266A>T) c.838A>T (p.Met280Leu) | |
12 | g.55957207T>C | CA385217328 | PMEL | c.1096A>G (p.Met366Val) c.934A>G (p.Met312Val) c.649A>G (p.Met217Val) c.758A>G n.136A>G c.358+1266A>G (n.358+1266A>G) c.838A>G (p.Met280Val) | |
12 | g.55957207T>G | CA385217329 | PMEL | c.1096A>C (p.Met366Leu) c.934A>C (p.Met312Leu) c.649A>C (p.Met217Leu) c.758A>C n.136A>C c.358+1266A>C (n.358+1266A>C) c.838A>C (p.Met280Leu) | |
12 | g.55957208C>A | CA385217333 | PMEL | c.1095G>T (p.Gln365His) c.933G>T (p.Gln311His) c.648G>T (p.Gln216His) c.757G>T n.135G>T c.358+1265G>T (n.358+1265G>T) c.837G>T (p.Gln279His) | gnomAD v4 |
12 | g.55957208C>G | CA385217334 | PMEL | c.1095G>C (p.Gln365His) c.933G>C (p.Gln311His) c.648G>C (p.Gln216His) c.757G>C n.135G>C c.358+1265G>C (n.358+1265G>C) c.837G>C (p.Gln279His) | |
12 | g.55957208C>T | CA480365024 | PMEL | c.1095G>A (p.Gln365=) c.933G>A (p.Gln311=) c.648G>A (p.Gln216=) c.757G>A n.135G>A c.358+1265G>A (n.358+1265G>A) c.837G>A (p.Gln279=) | |
12 | g.55957209T>A | CA385217336 | PMEL | c.1094A>T (p.Gln365Leu) c.932A>T (p.Gln311Leu) c.647A>T (p.Gln216Leu) c.756A>T n.134A>T c.358+1264A>T (n.358+1264A>T) c.836A>T (p.Gln279Leu) | |
12 | g.55957209T>C | CA385217337 | PMEL | c.1094A>G (p.Gln365Arg) c.932A>G (p.Gln311Arg) c.647A>G (p.Gln216Arg) c.756A>G n.134A>G c.358+1264A>G (n.358+1264A>G) c.836A>G (p.Gln279Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957209T>G | CA385217338 | PMEL | c.1094A>C (p.Gln365Pro) c.932A>C (p.Gln311Pro) c.647A>C (p.Gln216Pro) c.756A>C n.134A>C c.358+1264A>C (n.358+1264A>C) c.836A>C (p.Gln279Pro) | |
12 | g.55957209T= | CA2038181304 | PMEL | c.1094A= (p.Gln365=) c.932A= (p.Gln311=) c.647A= (p.Gln216=) c.756A= n.134A= c.358+1264A= (n.358+1264A=) c.836A= (p.Gln279=) | |
12 | g.55957210G>A | CA385217343 | PMEL | c.1093C>T (p.Gln365Ter) c.931C>T (p.Gln311Ter) c.646C>T (p.Gln216Ter) c.755C>T n.133C>T c.358+1263C>T (n.358+1263C>T) c.835C>T (p.Gln279Ter) | COSMIC COSMIC |
12 | g.55957210G>C | CA385217342 | PMEL | c.1093C>G (p.Gln365Glu) c.931C>G (p.Gln311Glu) c.646C>G (p.Gln216Glu) c.755C>G n.133C>G c.358+1263C>G (n.358+1263C>G) c.835C>G (p.Gln279Glu) | |
12 | g.55957210G>T | CA385217340 | PMEL | c.1093C>A (p.Gln365Lys) c.931C>A (p.Gln311Lys) c.646C>A (p.Gln216Lys) c.755C>A n.133C>A c.358+1263C>A (n.358+1263C>A) c.835C>A (p.Gln279Lys) | |
12 | g.55957211C>A | CA480365028 | PMEL | c.1092G>T (p.Val364=) c.930G>T (p.Val310=) c.645G>T (p.Val215=) c.754G>T n.132G>T c.358+1262G>T (n.358+1262G>T) c.834G>T (p.Val278=) | |
12 | g.55957211C>G | CA480365029 | PMEL | c.1092G>C (p.Val364=) c.930G>C (p.Val310=) c.645G>C (p.Val215=) c.754G>C n.132G>C c.358+1262G>C (n.358+1262G>C) c.834G>C (p.Val278=) | |
12 | g.55957211C>T | CA480365031 | PMEL | c.1092G>A (p.Val364=) c.930G>A (p.Val310=) c.645G>A (p.Val215=) c.754G>A n.132G>A c.358+1262G>A (n.358+1262G>A) c.834G>A (p.Val278=) | |
12 | g.55957212A>C | CA385217345 | PMEL | c.1091T>G (p.Val364Gly) c.929T>G (p.Val310Gly) c.644T>G (p.Val215Gly) c.753T>G n.131T>G c.358+1261T>G (n.358+1261T>G) c.833T>G (p.Val278Gly) | |
12 | g.55957212A>G | CA385217346 | PMEL | c.1091T>C (p.Val364Ala) c.929T>C (p.Val310Ala) c.644T>C (p.Val215Ala) c.753T>C n.131T>C c.358+1261T>C (n.358+1261T>C) c.833T>C (p.Val278Ala) | gnomAD v4 |
12 | g.55957212A>T | CA385217347 | PMEL | c.1091T>A (p.Val364Glu) c.929T>A (p.Val310Glu) c.644T>A (p.Val215Glu) c.753T>A n.131T>A c.358+1261T>A (n.358+1261T>A) c.833T>A (p.Val278Glu) | |
12 | g.55957213C>A | CA385217349 | PMEL | c.1090G>T (p.Val364Leu) c.928G>T (p.Val310Leu) c.643G>T (p.Val215Leu) c.752G>T n.130G>T c.358+1260G>T (n.358+1260G>T) c.832G>T (p.Val278Leu) | |
12 | g.55957213C>G | CA385217350 | PMEL | c.1090G>C (p.Val364Leu) c.928G>C (p.Val310Leu) c.643G>C (p.Val215Leu) c.752G>C n.130G>C c.358+1260G>C (n.358+1260G>C) c.832G>C (p.Val278Leu) | |
12 | g.55957213C>T | CA385217352 | PMEL | c.1090G>A (p.Val364Met) c.928G>A (p.Val310Met) c.643G>A (p.Val215Met) c.752G>A n.130G>A c.358+1260G>A (n.358+1260G>A) c.832G>A (p.Val278Met) | gnomAD v4 |
12 | g.55957214A>C | CA480365039 | PMEL | c.1089T>G (p.Pro363=) c.927T>G (p.Pro309=) c.642T>G (p.Pro214=) c.751T>G n.129T>G c.358+1259T>G (n.358+1259T>G) c.831T>G (p.Pro277=) | |
12 | g.55957214A>G | CA480365041 | PMEL | c.1089T>C (p.Pro363=) c.927T>C (p.Pro309=) c.642T>C (p.Pro214=) c.751T>C n.129T>C c.358+1259T>C (n.358+1259T>C) c.831T>C (p.Pro277=) | |
12 | g.55957214A>T | CA480365043 | PMEL | c.1089T>A (p.Pro363=) c.927T>A (p.Pro309=) c.642T>A (p.Pro214=) c.751T>A n.129T>A c.358+1259T>A (n.358+1259T>A) c.831T>A (p.Pro277=) | |
12 | g.55957215G>A | CA385217357 | PMEL | c.1088C>T (p.Pro363Leu) c.926C>T (p.Pro309Leu) c.641C>T (p.Pro214Leu) c.750C>T n.128C>T c.358+1258C>T (n.358+1258C>T) c.830C>T (p.Pro277Leu) | |
12 | g.55957215G>C | CA385217353 | PMEL | c.1088C>G (p.Pro363Arg) c.926C>G (p.Pro309Arg) c.641C>G (p.Pro214Arg) c.750C>G n.128C>G c.358+1258C>G (n.358+1258C>G) c.830C>G (p.Pro277Arg) | |
12 | g.55957215G>T | CA385217354 | PMEL | c.1088C>A (p.Pro363His) c.926C>A (p.Pro309His) c.641C>A (p.Pro214His) c.750C>A n.128C>A c.358+1258C>A (n.358+1258C>A) c.830C>A (p.Pro277His) | |
12 | g.55957216G>A | CA6620071 | PMEL | c.1087C>T (p.Pro363Ser) c.925C>T (p.Pro309Ser) c.640C>T (p.Pro214Ser) c.749C>T n.127C>T c.358+1257C>T (n.358+1257C>T) c.829C>T (p.Pro277Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957216G>C | CA385217359 | PMEL | c.1087C>G (p.Pro363Ala) c.925C>G (p.Pro309Ala) c.640C>G (p.Pro214Ala) c.749C>G n.127C>G c.358+1257C>G (n.358+1257C>G) c.829C>G (p.Pro277Ala) | |
12 | g.55957216G= | CA2038181311 | PMEL | c.1087C= (p.Pro363=) c.925C= (p.Pro309=) c.640C= (p.Pro214=) c.749C= n.127C= c.358+1257C= (n.358+1257C=) c.829C= (p.Pro277=) | |
12 | g.55957216G>T | CA385217368 | PMEL | c.1087C>A (p.Pro363Thr) c.925C>A (p.Pro309Thr) c.640C>A (p.Pro214Thr) c.749C>A n.127C>A c.358+1257C>A (n.358+1257C>A) c.829C>A (p.Pro277Thr) | |
12 | g.55957217T>A | CA480365046 | PMEL | c.1086A>T (p.Ala362=) c.924A>T (p.Ala308=) c.639A>T (p.Ala213=) c.748A>T n.126A>T c.358+1256A>T (n.358+1256A>T) c.828A>T (p.Ala276=) | |
12 | g.55957217T>C | CA480365048 | PMEL | c.1086A>G (p.Ala362=) c.924A>G (p.Ala308=) c.639A>G (p.Ala213=) c.748A>G n.126A>G c.358+1256A>G (n.358+1256A>G) c.828A>G (p.Ala276=) | dbSNP gnomAD v4 |
12 | g.55957217T>G | CA480365049 | PMEL | c.1086A>C (p.Ala362=) c.924A>C (p.Ala308=) c.639A>C (p.Ala213=) c.748A>C n.126A>C c.358+1256A>C (n.358+1256A>C) c.828A>C (p.Ala276=) | |
12 | g.55957217T= | CA2038181316 | PMEL | c.1086A= (p.Ala362=) c.924A= (p.Ala308=) c.639A= (p.Ala213=) c.748A= n.126A= c.358+1256A= (n.358+1256A=) c.828A= (p.Ala276=) | |
12 | g.55957218G>A | CA6620072 | PMEL | c.1085C>T (p.Ala362Val) c.923C>T (p.Ala308Val) c.638C>T (p.Ala213Val) c.747C>T n.125C>T c.358+1255C>T (n.358+1255C>T) c.827C>T (p.Ala276Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957218G>C | CA385217371 | PMEL | c.1085C>G (p.Ala362Gly) c.923C>G (p.Ala308Gly) c.638C>G (p.Ala213Gly) c.747C>G n.125C>G c.358+1255C>G (n.358+1255C>G) c.827C>G (p.Ala276Gly) | |
12 | g.55957218G= | CA2038181325 | PMEL | c.1085C= (p.Ala362=) c.923C= (p.Ala308=) c.638C= (p.Ala213=) c.747C= n.125C= c.358+1255C= (n.358+1255C=) c.827C= (p.Ala276=) | |
12 | g.55957218G>T | CA385217373 | PMEL | c.1085C>A (p.Ala362Glu) c.923C>A (p.Ala308Glu) c.638C>A (p.Ala213Glu) c.747C>A n.125C>A c.358+1255C>A (n.358+1255C>A) c.827C>A (p.Ala276Glu) | |
12 | g.55957219C>A | CA385217374 | PMEL | c.1084G>T (p.Ala362Ser) c.922G>T (p.Ala308Ser) c.637G>T (p.Ala213Ser) c.746G>T n.124G>T c.358+1254G>T (n.358+1254G>T) c.826G>T (p.Ala276Ser) | |
12 | g.55957219C= | CA2038181336 | PMEL | c.1084G= (p.Ala362=) c.922G= (p.Ala308=) c.637G= (p.Ala213=) c.746G= n.124G= c.358+1254G= (n.358+1254G=) c.826G= (p.Ala276=) | |
12 | g.55957219C>G | CA385217375 | PMEL | c.1084G>C (p.Ala362Pro) c.922G>C (p.Ala308Pro) c.637G>C (p.Ala213Pro) c.746G>C n.124G>C c.358+1254G>C (n.358+1254G>C) c.826G>C (p.Ala276Pro) | |
12 | g.55957219C>T | CA6620073 | PMEL | c.1084G>A (p.Ala362Thr) c.922G>A (p.Ala308Thr) c.637G>A (p.Ala213Thr) c.746G>A n.124G>A c.358+1254G>A (n.358+1254G>A) c.826G>A (p.Ala276Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957220A= | CA2038181344 | PMEL | c.1083T= (p.Thr361=) c.921T= (p.Thr307=) c.636T= (p.Thr212=) c.745T= n.123T= c.358+1253T= (n.358+1253T=) c.825T= (p.Thr275=) | |
12 | g.55957220A>C | CA480365056 | PMEL | c.1083T>G (p.Thr361=) c.921T>G (p.Thr307=) c.636T>G (p.Thr212=) c.745T>G n.123T>G c.358+1253T>G (n.358+1253T>G) c.825T>G (p.Thr275=) | |
12 | g.55957220A>G | CA480365057 | PMEL | c.1083T>C (p.Thr361=) c.921T>C (p.Thr307=) c.636T>C (p.Thr212=) c.745T>C n.123T>C c.358+1253T>C (n.358+1253T>C) c.825T>C (p.Thr275=) | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.55957220A>T | CA480365053 | PMEL | c.1083T>A (p.Thr361=) c.921T>A (p.Thr307=) c.636T>A (p.Thr212=) c.745T>A n.123T>A c.358+1253T>A (n.358+1253T>A) c.825T>A (p.Thr275=) | |
12 | g.55957221_55957230del | CA2575274098 | PMEL | c.1074_1083del (p.Ile359HisfsTer13) c.912_921del (p.Ile305HisfsTer13) c.627_636del (p.Ile210HisfsTer15) c.736_745del n.114_123del c.358+1244_358+1253del (n.358+1244_358+1253del) c.816_825del (p.Ile273HisfsTer13) c.1074_1083del (p.Ile359HisfsTer15) | |
12 | g.55957221G>A | CA385217379 | PMEL | c.1082C>T (p.Thr361Ile) c.920C>T (p.Thr307Ile) c.635C>T (p.Thr212Ile) c.744C>T n.122C>T c.358+1252C>T (n.358+1252C>T) c.824C>T (p.Thr275Ile) | gnomAD v4 |
12 | g.55957221G>C | CA385217380 | PMEL | c.1082C>G (p.Thr361Ser) c.920C>G (p.Thr307Ser) c.635C>G (p.Thr212Ser) c.744C>G n.122C>G c.358+1252C>G (n.358+1252C>G) c.824C>G (p.Thr275Ser) | |
12 | g.55957221G>T | CA385217381 | PMEL | c.1082C>A (p.Thr361Asn) c.920C>A (p.Thr307Asn) c.635C>A (p.Thr212Asn) c.744C>A n.122C>A c.358+1252C>A (n.358+1252C>A) c.824C>A (p.Thr275Asn) | |
12 | g.55957222T>A | CA385217386 | PMEL | c.1081A>T (p.Thr361Ser) c.919A>T (p.Thr307Ser) c.634A>T (p.Thr212Ser) c.743A>T n.121A>T c.358+1251A>T (n.358+1251A>T) c.823A>T (p.Thr275Ser) | |
12 | g.55957222T>C | CA385217383 | PMEL | c.1081A>G (p.Thr361Ala) c.919A>G (p.Thr307Ala) c.634A>G (p.Thr212Ala) c.743A>G n.121A>G c.358+1251A>G (n.358+1251A>G) c.823A>G (p.Thr275Ala) | |
12 | g.55957222T>G | CA385217385 | PMEL | c.1081A>C (p.Thr361Pro) c.919A>C (p.Thr307Pro) c.634A>C (p.Thr212Pro) c.743A>C n.121A>C c.358+1251A>C (n.358+1251A>C) c.823A>C (p.Thr275Pro) | |
12 | g.55957223G>A | CA6620074 | PMEL | c.1080C>T (p.Ser360=) c.918C>T (p.Ser306=) c.633C>T (p.Ser211=) c.742C>T n.120C>T c.358+1250C>T (n.358+1250C>T) c.822C>T (p.Ser274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957223G>C | CA385217388 | PMEL | c.1080C>G (p.Ser360Arg) c.918C>G (p.Ser306Arg) c.633C>G (p.Ser211Arg) c.742C>G n.120C>G c.358+1250C>G (n.358+1250C>G) c.822C>G (p.Ser274Arg) | |
12 | g.55957223G= | CA2038181348 | PMEL | c.1080C= (p.Ser360=) c.918C= (p.Ser306=) c.633C= (p.Ser211=) c.742C= n.120C= c.358+1250C= (n.358+1250C=) c.822C= (p.Ser274=) | |
12 | g.55957223G>T | CA385217389 | PMEL | c.1080C>A (p.Ser360Arg) c.918C>A (p.Ser306Arg) c.633C>A (p.Ser211Arg) c.742C>A n.120C>A c.358+1250C>A (n.358+1250C>A) c.822C>A (p.Ser274Arg) | |
12 | g.55957224C>A | CA385217392 | PMEL | c.1079G>T (p.Ser360Ile) c.917G>T (p.Ser306Ile) c.632G>T (p.Ser211Ile) c.741G>T n.119G>T c.358+1249G>T (n.358+1249G>T) c.821G>T (p.Ser274Ile) | |
12 | g.55957224C= | CA2038181351 | PMEL | c.1079G= (p.Ser360=) c.917G= (p.Ser306=) c.632G= (p.Ser211=) c.741G= n.119G= c.358+1249G= (n.358+1249G=) c.821G= (p.Ser274=) | |
12 | g.55957224C>G | CA385217393 | PMEL | c.1079G>C (p.Ser360Thr) c.917G>C (p.Ser306Thr) c.632G>C (p.Ser211Thr) c.741G>C n.119G>C c.358+1249G>C (n.358+1249G>C) c.821G>C (p.Ser274Thr) | gnomAD v4 |
12 | g.55957224C>T | CA385217395 | PMEL | c.1079G>A (p.Ser360Asn) c.917G>A (p.Ser306Asn) c.632G>A (p.Ser211Asn) c.741G>A n.119G>A c.358+1249G>A (n.358+1249G>A) c.821G>A (p.Ser274Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957225T>A | CA385217397 | PMEL | c.1078A>T (p.Ser360Cys) c.916A>T (p.Ser306Cys) c.631A>T (p.Ser211Cys) c.740A>T n.118A>T c.358+1248A>T (n.358+1248A>T) c.820A>T (p.Ser274Cys) | |
12 | g.55957225T>C | CA385217399 | PMEL | c.1078A>G (p.Ser360Gly) c.916A>G (p.Ser306Gly) c.631A>G (p.Ser211Gly) c.740A>G n.118A>G c.358+1248A>G (n.358+1248A>G) c.820A>G (p.Ser274Gly) | |
12 | g.55957225T>G | CA385217401 | PMEL | c.1078A>C (p.Ser360Arg) c.916A>C (p.Ser306Arg) c.631A>C (p.Ser211Arg) c.740A>C n.118A>C c.358+1248A>C (n.358+1248A>C) c.820A>C (p.Ser274Arg) | |
12 | g.55957226T>A | CA480365067 | PMEL | c.1077A>T (p.Ile359=) c.915A>T (p.Ile305=) c.630A>T (p.Ile210=) c.739A>T n.117A>T c.358+1247A>T (n.358+1247A>T) c.819A>T (p.Ile273=) | |
12 | g.55957226T>C | CA385217403 | PMEL | c.1077A>G (p.Ile359Met) c.915A>G (p.Ile305Met) c.630A>G (p.Ile210Met) c.739A>G n.117A>G c.358+1247A>G (n.358+1247A>G) c.819A>G (p.Ile273Met) | |
12 | g.55957226T>G | CA480365068 | PMEL | c.1077A>C (p.Ile359=) c.915A>C (p.Ile305=) c.630A>C (p.Ile210=) c.739A>C n.117A>C c.358+1247A>C (n.358+1247A>C) c.819A>C (p.Ile273=) | |
12 | g.55957227A>C | CA385217405 | PMEL | c.1076T>G (p.Ile359Arg) c.914T>G (p.Ile305Arg) c.629T>G (p.Ile210Arg) c.738T>G n.116T>G c.358+1246T>G (n.358+1246T>G) c.818T>G (p.Ile273Arg) | |
12 | g.55957227A>G | CA385217406 | PMEL | c.1076T>C (p.Ile359Thr) c.914T>C (p.Ile305Thr) c.629T>C (p.Ile210Thr) c.738T>C n.116T>C c.358+1246T>C (n.358+1246T>C) c.818T>C (p.Ile273Thr) | |
12 | g.55957227A>T | CA385217407 | PMEL | c.1076T>A (p.Ile359Lys) c.914T>A (p.Ile305Lys) c.629T>A (p.Ile210Lys) c.738T>A n.116T>A c.358+1246T>A (n.358+1246T>A) c.818T>A (p.Ile273Lys) | |
12 | g.55957228T>A | CA385217412 | PMEL | c.1075A>T (p.Ile359Leu) c.913A>T (p.Ile305Leu) c.628A>T (p.Ile210Leu) c.737A>T n.115A>T c.358+1245A>T (n.358+1245A>T) c.817A>T (p.Ile273Leu) | |
12 | g.55957228T>C | CA385217409 | PMEL | c.1075A>G (p.Ile359Val) c.913A>G (p.Ile305Val) c.628A>G (p.Ile210Val) c.737A>G n.115A>G c.358+1245A>G (n.358+1245A>G) c.817A>G (p.Ile273Val) | |
12 | g.55957228T>G | CA385217410 | PMEL | c.1075A>C (p.Ile359Leu) c.913A>C (p.Ile305Leu) c.628A>C (p.Ile210Leu) c.737A>C n.115A>C c.358+1245A>C (n.358+1245A>C) c.817A>C (p.Ile273Leu) | |
12 | g.55957229G>A | CA480365074 | PMEL | c.1074C>T (p.Val358=) c.912C>T (p.Val304=) c.627C>T (p.Val209=) c.736C>T n.114C>T c.358+1244C>T (n.358+1244C>T) c.816C>T (p.Val272=) | |
12 | g.55957229G>C | CA480365076 | PMEL | c.1074C>G (p.Val358=) c.912C>G (p.Val304=) c.627C>G (p.Val209=) c.736C>G n.114C>G c.358+1244C>G (n.358+1244C>G) c.816C>G (p.Val272=) | |
12 | g.55957229G= | CA2038181358 | PMEL | c.1074C= (p.Val358=) c.912C= (p.Val304=) c.627C= (p.Val209=) c.736C= n.114C= c.358+1244C= (n.358+1244C=) c.816C= (p.Val272=) | |
12 | g.55957229G>T | CA6620075 | PMEL | c.1074C>A (p.Val358=) c.912C>A (p.Val304=) c.627C>A (p.Val209=) c.736C>A n.114C>A c.358+1244C>A (n.358+1244C>A) c.816C>A (p.Val272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957230A= | CA2038181363 | PMEL | c.1073T= (p.Val358=) c.911T= (p.Val304=) c.626T= (p.Val209=) c.735T= n.113T= c.358+1243T= (n.358+1243T=) c.815T= (p.Val272=) | |
12 | g.55957230A>C | CA385217415 | PMEL | c.1073T>G (p.Val358Gly) c.911T>G (p.Val304Gly) c.626T>G (p.Val209Gly) c.735T>G n.113T>G c.358+1243T>G (n.358+1243T>G) c.815T>G (p.Val272Gly) | |
12 | g.55957230A>G | CA6620076 | PMEL | c.1073T>C (p.Val358Ala) c.911T>C (p.Val304Ala) c.626T>C (p.Val209Ala) c.735T>C n.113T>C c.358+1243T>C (n.358+1243T>C) c.815T>C (p.Val272Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.55957230A>T | CA385217417 | PMEL | c.1073T>A (p.Val358Asp) c.911T>A (p.Val304Asp) c.626T>A (p.Val209Asp) c.735T>A n.113T>A c.358+1243T>A (n.358+1243T>A) c.815T>A (p.Val272Asp) | |
12 | g.55957231C>A | CA385217418 | PMEL | c.1072G>T (p.Val358Phe) c.910G>T (p.Val304Phe) c.625G>T (p.Val209Phe) c.734G>T n.112G>T c.358+1242G>T (n.358+1242G>T) c.814G>T (p.Val272Phe) | |
12 | g.55957231C>G | CA385217419 | PMEL | c.1072G>C (p.Val358Leu) c.910G>C (p.Val304Leu) c.625G>C (p.Val209Leu) c.734G>C n.112G>C c.358+1242G>C (n.358+1242G>C) c.814G>C (p.Val272Leu) | |
12 | g.55957231C>T | CA385217420 | PMEL | c.1072G>A (p.Val358Ile) c.910G>A (p.Val304Ile) c.625G>A (p.Val209Ile) c.734G>A n.112G>A c.358+1242G>A (n.358+1242G>A) c.814G>A (p.Val272Ile) | |
12 | g.55957232T>A | CA385217422 | PMEL | c.1071A>T (p.Glu357Asp) c.909A>T (p.Glu303Asp) c.624A>T (p.Glu208Asp) c.733A>T n.111A>T c.358+1241A>T (n.358+1241A>T) c.813A>T (p.Glu271Asp) | |
12 | g.55957232T>C | CA480364793 | PMEL | c.1071A>G (p.Glu357=) c.909A>G (p.Glu303=) c.624A>G (p.Glu208=) c.733A>G n.111A>G c.358+1241A>G (n.358+1241A>G) c.813A>G (p.Glu271=) | |
12 | g.55957232T>G | CA385217424 | PMEL | c.1071A>C (p.Glu357Asp) c.909A>C (p.Glu303Asp) c.624A>C (p.Glu208Asp) c.733A>C n.111A>C c.358+1241A>C (n.358+1241A>C) c.813A>C (p.Glu271Asp) | |
12 | g.55957233T>A | CA385217425 | PMEL | c.1070A>T (p.Glu357Val) c.908A>T (p.Glu303Val) c.623A>T (p.Glu208Val) c.732A>T n.110A>T c.358+1240A>T (n.358+1240A>T) c.812A>T (p.Glu271Val) | |
12 | g.55957233T>C | CA385217427 | PMEL | c.1070A>G (p.Glu357Gly) c.908A>G (p.Glu303Gly) c.623A>G (p.Glu208Gly) c.732A>G n.110A>G c.358+1240A>G (n.358+1240A>G) c.812A>G (p.Glu271Gly) | |
12 | g.55957233T>G | CA385217428 | PMEL | c.1070A>C (p.Glu357Ala) c.908A>C (p.Glu303Ala) c.623A>C (p.Glu208Ala) c.732A>C n.110A>C c.358+1240A>C (n.358+1240A>C) c.812A>C (p.Glu271Ala) | |
12 | g.55957234C>A | CA385217430 | PMEL | c.1069G>T (p.Glu357Ter) c.907G>T (p.Glu303Ter) c.622G>T (p.Glu208Ter) c.731G>T n.109G>T c.358+1239G>T (n.358+1239G>T) c.811G>T (p.Glu271Ter) | |
12 | g.55957234C>G | CA385217433 | PMEL | c.1069G>C (p.Glu357Gln) c.907G>C (p.Glu303Gln) c.622G>C (p.Glu208Gln) c.731G>C n.109G>C c.358+1239G>C (n.358+1239G>C) c.811G>C (p.Glu271Gln) | |
12 | g.55957234C>T | CA385217431 | PMEL | c.1069G>A (p.Glu357Lys) c.907G>A (p.Glu303Lys) c.622G>A (p.Glu208Lys) c.731G>A n.109G>A c.358+1239G>A (n.358+1239G>A) c.811G>A (p.Glu271Lys) | gnomAD v4 |
12 | g.55957235A= | CA2038181369 | PMEL | c.1068T= (p.Thr356=) c.906T= (p.Thr302=) c.621T= (p.Thr207=) c.730T= n.108T= c.358+1238T= (n.358+1238T=) c.810T= (p.Thr270=) | |
12 | g.55957235A>C | CA480364797 | PMEL | c.1068T>G (p.Thr356=) c.906T>G (p.Thr302=) c.621T>G (p.Thr207=) c.730T>G n.108T>G c.358+1238T>G (n.358+1238T>G) c.810T>G (p.Thr270=) | |
12 | g.55957235A>G | CA6620077 | PMEL | c.1068T>C (p.Thr356=) c.906T>C (p.Thr302=) c.621T>C (p.Thr207=) c.730T>C n.108T>C c.358+1238T>C (n.358+1238T>C) c.810T>C (p.Thr270=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55957235A>T | CA480364798 | PMEL | c.1068T>A (p.Thr356=) c.906T>A (p.Thr302=) c.621T>A (p.Thr207=) c.730T>A n.108T>A c.358+1238T>A (n.358+1238T>A) c.810T>A (p.Thr270=) | |
12 | g.55957236G>A | CA385217438 | PMEL | c.1067C>T (p.Thr356Ile) c.905C>T (p.Thr302Ile) c.620C>T (p.Thr207Ile) c.729C>T n.107C>T c.358+1237C>T (n.358+1237C>T) c.809C>T (p.Thr270Ile) | |
12 | g.55957236G>C | CA385217436 | PMEL | c.1067C>G (p.Thr356Ser) c.905C>G (p.Thr302Ser) c.620C>G (p.Thr207Ser) c.729C>G n.107C>G c.358+1237C>G (n.358+1237C>G) c.809C>G (p.Thr270Ser) | |
12 | g.55957236G>T | CA385217437 | PMEL | c.1067C>A (p.Thr356Asn) c.905C>A (p.Thr302Asn) c.620C>A (p.Thr207Asn) c.729C>A n.107C>A c.358+1237C>A (n.358+1237C>A) c.809C>A (p.Thr270Asn) | |
12 | g.55957237T>A | CA385217440 | PMEL | c.1066A>T (p.Thr356Ser) c.904A>T (p.Thr302Ser) c.619A>T (p.Thr207Ser) c.728A>T n.106A>T c.358+1236A>T (n.358+1236A>T) c.808A>T (p.Thr270Ser) | |
12 | g.55957237T>C | CA385217441 | PMEL | c.1066A>G (p.Thr356Ala) c.904A>G (p.Thr302Ala) c.619A>G (p.Thr207Ala) c.728A>G n.106A>G c.358+1236A>G (n.358+1236A>G) c.808A>G (p.Thr270Ala) | |
12 | g.55957237T>G | CA385217443 | PMEL | c.1066A>C (p.Thr356Pro) c.904A>C (p.Thr302Pro) c.619A>C (p.Thr207Pro) c.728A>C n.106A>C c.358+1236A>C (n.358+1236A>C) c.808A>C (p.Thr270Pro) | |
12 | g.55957238G>A | CA480364803 | PMEL | c.1065C>T (p.Thr355=) c.903C>T (p.Thr301=) c.618C>T (p.Thr206=) c.727C>T n.105C>T c.358+1235C>T (n.358+1235C>T) c.807C>T (p.Thr269=) | |
12 | g.55957238G>C | CA480364804 | PMEL | c.1065C>G (p.Thr355=) c.903C>G (p.Thr301=) c.618C>G (p.Thr206=) c.727C>G n.105C>G c.358+1235C>G (n.358+1235C>G) c.807C>G (p.Thr269=) | |
12 | g.55957238G>T | CA480364805 | PMEL | c.1065C>A (p.Thr355=) c.903C>A (p.Thr301=) c.618C>A (p.Thr206=) c.727C>A n.105C>A c.358+1235C>A (n.358+1235C>A) c.807C>A (p.Thr269=) | gnomAD v4 |
12 | g.55957239G>A | CA385217448 | PMEL | c.1064C>T (p.Thr355Ile) c.902C>T (p.Thr301Ile) c.617C>T (p.Thr206Ile) c.726C>T n.104C>T c.358+1234C>T (n.358+1234C>T) c.806C>T (p.Thr269Ile) | |
12 | g.55957239G>C | CA385217446 | PMEL | c.1064C>G (p.Thr355Ser) c.902C>G (p.Thr301Ser) c.617C>G (p.Thr206Ser) c.726C>G n.104C>G c.358+1234C>G (n.358+1234C>G) c.806C>G (p.Thr269Ser) | |
12 | g.55957239G>T | CA385217444 | PMEL | c.1064C>A (p.Thr355Asn) c.902C>A (p.Thr301Asn) c.617C>A (p.Thr206Asn) c.726C>A n.104C>A c.358+1234C>A (n.358+1234C>A) c.806C>A (p.Thr269Asn) | gnomAD v4 |
12 | g.55957240T>A | CA385217449 | PMEL | c.1063A>T (p.Thr355Ser) c.901A>T (p.Thr301Ser) c.616A>T (p.Thr206Ser) c.725A>T n.103A>T c.358+1233A>T (n.358+1233A>T) c.805A>T (p.Thr269Ser) | |
12 | g.55957240T>C | CA6620078 | PMEL | c.1063A>G (p.Thr355Ala) c.901A>G (p.Thr301Ala) c.616A>G (p.Thr206Ala) c.725A>G n.103A>G c.358+1233A>G (n.358+1233A>G) c.805A>G (p.Thr269Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957240T>G | CA385217450 | PMEL | c.1063A>C (p.Thr355Pro) c.901A>C (p.Thr301Pro) c.616A>C (p.Thr206Pro) c.725A>C n.103A>C c.358+1233A>C (n.358+1233A>C) c.805A>C (p.Thr269Pro) | |
12 | g.55957240T= | CA2038181375 | PMEL | c.1063A= (p.Thr355=) c.901A= (p.Thr301=) c.616A= (p.Thr206=) c.725A= n.103A= c.358+1233A= (n.358+1233A=) c.805A= (p.Thr269=) | |
12 | g.55957241T>A | CA480364809 | PMEL | c.1062A>T (p.Pro354=) c.900A>T (p.Pro300=) c.615A>T (p.Pro205=) c.724A>T n.102A>T c.358+1232A>T (n.358+1232A>T) c.804A>T (p.Pro268=) | |
12 | g.55957241T>C | CA480364810 | PMEL | c.1062A>G (p.Pro354=) c.900A>G (p.Pro300=) c.615A>G (p.Pro205=) c.724A>G n.102A>G c.358+1232A>G (n.358+1232A>G) c.804A>G (p.Pro268=) | |
12 | g.55957241T>G | CA480364811 | PMEL | c.1062A>C (p.Pro354=) c.900A>C (p.Pro300=) c.615A>C (p.Pro205=) c.724A>C n.102A>C c.358+1232A>C (n.358+1232A>C) c.804A>C (p.Pro268=) | |
12 | g.55957242G>A | CA385217451 | PMEL | c.1061C>T (p.Pro354Leu) c.899C>T (p.Pro300Leu) c.614C>T (p.Pro205Leu) c.723C>T n.101C>T c.358+1231C>T (n.358+1231C>T) c.803C>T (p.Pro268Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957242G>C | CA385217453 | PMEL | c.1061C>G (p.Pro354Arg) c.899C>G (p.Pro300Arg) c.614C>G (p.Pro205Arg) c.723C>G n.101C>G c.358+1231C>G (n.358+1231C>G) c.803C>G (p.Pro268Arg) | |
12 | g.55957242G= | CA2038181380 | PMEL | c.1061C= (p.Pro354=) c.899C= (p.Pro300=) c.614C= (p.Pro205=) c.723C= n.101C= c.358+1231C= (n.358+1231C=) c.803C= (p.Pro268=) | |
12 | g.55957242G>T | CA385217454 | PMEL | c.1061C>A (p.Pro354Gln) c.899C>A (p.Pro300Gln) c.614C>A (p.Pro205Gln) c.723C>A n.101C>A c.358+1231C>A (n.358+1231C>A) c.803C>A (p.Pro268Gln) | |
12 | g.55957243G>A | CA385217456 | PMEL | c.1060C>T (p.Pro354Ser) c.898C>T (p.Pro300Ser) c.613C>T (p.Pro205Ser) c.722C>T n.100C>T c.358+1230C>T (n.358+1230C>T) c.802C>T (p.Pro268Ser) | gnomAD v4 |
12 | g.55957243G>C | CA385217459 | PMEL | c.1060C>G (p.Pro354Ala) c.898C>G (p.Pro300Ala) c.613C>G (p.Pro205Ala) c.722C>G n.100C>G c.358+1230C>G (n.358+1230C>G) c.802C>G (p.Pro268Ala) | |
12 | g.55957243G>T | CA385217458 | PMEL | c.1060C>A (p.Pro354Thr) c.898C>A (p.Pro300Thr) c.613C>A (p.Pro205Thr) c.722C>A n.100C>A c.358+1230C>A (n.358+1230C>A) c.802C>A (p.Pro268Thr) | |
12 | g.55957244C>A | CA480364812 | PMEL | c.1059G>T (p.Val353=) c.897G>T (p.Val299=) c.612G>T (p.Val204=) c.721G>T n.99G>T c.358+1229G>T (n.358+1229G>T) c.801G>T (p.Val267=) | COSMIC |
12 | g.55957244C>G | CA480364814 | PMEL | c.1059G>C (p.Val353=) c.897G>C (p.Val299=) c.612G>C (p.Val204=) c.721G>C n.99G>C c.358+1229G>C (n.358+1229G>C) c.801G>C (p.Val267=) | |
12 | g.55957244C>T | CA480364817 | PMEL | c.1059G>A (p.Val353=) c.897G>A (p.Val299=) c.612G>A (p.Val204=) c.721G>A n.99G>A c.358+1229G>A (n.358+1229G>A) c.801G>A (p.Val267=) | gnomAD v4 |
12 | g.55957245A>C | CA385217461 | PMEL | c.1058T>G (p.Val353Gly) c.896T>G (p.Val299Gly) c.611T>G (p.Val204Gly) c.720T>G n.98T>G c.358+1228T>G (n.358+1228T>G) c.800T>G (p.Val267Gly) | |
12 | g.55957245A>G | CA385217466 | PMEL | c.1058T>C (p.Val353Ala) c.896T>C (p.Val299Ala) c.611T>C (p.Val204Ala) c.720T>C n.98T>C c.358+1228T>C (n.358+1228T>C) c.800T>C (p.Val267Ala) | gnomAD v4 |
12 | g.55957245A>T | CA385217467 | PMEL | c.1058T>A (p.Val353Glu) c.896T>A (p.Val299Glu) c.611T>A (p.Val204Glu) c.720T>A n.98T>A c.358+1228T>A (n.358+1228T>A) c.800T>A (p.Val267Glu) | |
12 | g.55957246C>A | CA385217469 | PMEL | c.1057G>T (p.Val353Leu) c.895G>T (p.Val299Leu) c.610G>T (p.Val204Leu) c.719G>T n.97G>T c.358+1227G>T (n.358+1227G>T) c.799G>T (p.Val267Leu) | |
12 | g.55957246C= | CA2038181383 | PMEL | c.1057G= (p.Val353=) c.895G= (p.Val299=) c.610G= (p.Val204=) c.719G= n.97G= c.358+1227G= (n.358+1227G=) c.799G= (p.Val267=) | |
12 | g.55957246C>G | CA385217470 | PMEL | c.1057G>C (p.Val353Leu) c.895G>C (p.Val299Leu) c.610G>C (p.Val204Leu) c.719G>C n.97G>C c.358+1227G>C (n.358+1227G>C) c.799G>C (p.Val267Leu) | |
12 | g.55957246C>T | CA237590982 | PMEL | c.1057G>A (p.Val353Met) c.895G>A (p.Val299Met) c.610G>A (p.Val204Met) c.719G>A n.97G>A c.358+1227G>A (n.358+1227G>A) c.799G>A (p.Val267Met) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957247C>A | CA385217473 | PMEL | c.1056G>T (p.Gln352His) c.894G>T (p.Gln298His) c.609G>T (p.Gln203His) c.718G>T n.96G>T c.358+1226G>T (n.358+1226G>T) c.798G>T (p.Gln266His) | |
12 | g.55957247C>G | CA385217474 | PMEL | c.1056G>C (p.Gln352His) c.894G>C (p.Gln298His) c.609G>C (p.Gln203His) c.718G>C n.96G>C c.358+1226G>C (n.358+1226G>C) c.798G>C (p.Gln266His) | |
12 | g.55957247C>T | CA480364824 | PMEL | c.1056G>A (p.Gln352=) c.894G>A (p.Gln298=) c.609G>A (p.Gln203=) c.718G>A n.96G>A c.358+1226G>A (n.358+1226G>A) c.798G>A (p.Gln266=) | |
12 | g.55957248T>A | CA385217476 | PMEL | c.1055A>T (p.Gln352Leu) c.893A>T (p.Gln298Leu) c.608A>T (p.Gln203Leu) c.717A>T n.95A>T c.358+1225A>T (n.358+1225A>T) c.797A>T (p.Gln266Leu) | |
12 | g.55957248T>C | CA385217478 | PMEL | c.1055A>G (p.Gln352Arg) c.893A>G (p.Gln298Arg) c.608A>G (p.Gln203Arg) c.717A>G n.95A>G c.358+1225A>G (n.358+1225A>G) c.797A>G (p.Gln266Arg) | |
12 | g.55957248T>G | CA385217480 | PMEL | c.1055A>C (p.Gln352Pro) c.893A>C (p.Gln298Pro) c.608A>C (p.Gln203Pro) c.717A>C n.95A>C c.358+1225A>C (n.358+1225A>C) c.797A>C (p.Gln266Pro) | |
12 | g.55957249G>A | CA6620079 | PMEL | c.1054C>T (p.Gln352Ter) c.892C>T (p.Gln298Ter) c.607C>T (p.Gln203Ter) c.716C>T n.94C>T c.358+1224C>T (n.358+1224C>T) c.796C>T (p.Gln266Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957249G>C | CA385217484 | PMEL | c.1054C>G (p.Gln352Glu) c.892C>G (p.Gln298Glu) c.607C>G (p.Gln203Glu) c.716C>G n.94C>G c.358+1224C>G (n.358+1224C>G) c.796C>G (p.Gln266Glu) | |
12 | g.55957249G= | CA2038181387 | PMEL | c.1054C= (p.Gln352=) c.892C= (p.Gln298=) c.607C= (p.Gln203=) c.716C= n.94C= c.358+1224C= (n.358+1224C=) c.796C= (p.Gln266=) | |
12 | g.55957249G>T | CA385217482 | PMEL | c.1054C>A (p.Gln352Lys) c.892C>A (p.Gln298Lys) c.607C>A (p.Gln203Lys) c.716C>A n.94C>A c.358+1224C>A (n.358+1224C>A) c.796C>A (p.Gln266Lys) | |
12 | g.55957250C>A | CA480364827 | PMEL | c.1053G>T (p.Val351=) c.891G>T (p.Val297=) c.606G>T (p.Val202=) c.715G>T n.93G>T c.358+1223G>T (n.358+1223G>T) c.795G>T (p.Val265=) | |
12 | g.55957250C>G | CA480364828 | PMEL | c.1053G>C (p.Val351=) c.891G>C (p.Val297=) c.606G>C (p.Val202=) c.715G>C n.93G>C c.358+1223G>C (n.358+1223G>C) c.795G>C (p.Val265=) | |
12 | g.55957250C>T | CA480364829 | PMEL | c.1053G>A (p.Val351=) c.891G>A (p.Val297=) c.606G>A (p.Val202=) c.715G>A n.93G>A c.358+1223G>A (n.358+1223G>A) c.795G>A (p.Val265=) | |
12 | g.55957251A>C | CA385217485 | PMEL | c.1052T>G (p.Val351Gly) c.890T>G (p.Val297Gly) c.605T>G (p.Val202Gly) c.714T>G n.92T>G c.358+1222T>G (n.358+1222T>G) c.794T>G (p.Val265Gly) | |
12 | g.55957251A>G | CA385217486 | PMEL | c.1052T>C (p.Val351Ala) c.890T>C (p.Val297Ala) c.605T>C (p.Val202Ala) c.714T>C n.92T>C c.358+1222T>C (n.358+1222T>C) c.794T>C (p.Val265Ala) | |
12 | g.55957251A>T | CA385217487 | PMEL | c.1052T>A (p.Val351Glu) c.890T>A (p.Val297Glu) c.605T>A (p.Val202Glu) c.714T>A n.92T>A c.358+1222T>A (n.358+1222T>A) c.794T>A (p.Val265Glu) | |
12 | g.55957252C>A | CA385217488 | PMEL | c.1051G>T (p.Val351Leu) c.889G>T (p.Val297Leu) c.604G>T (p.Val202Leu) c.713G>T n.91G>T c.358+1221G>T (n.358+1221G>T) c.793G>T (p.Val265Leu) | |
12 | g.55957252C>G | CA385217490 | PMEL | c.1051G>C (p.Val351Leu) c.889G>C (p.Val297Leu) c.604G>C (p.Val202Leu) c.713G>C n.91G>C c.358+1221G>C (n.358+1221G>C) c.793G>C (p.Val265Leu) | |
12 | g.55957252C>T | CA385217492 | PMEL | c.1051G>A (p.Val351Met) c.889G>A (p.Val297Met) c.604G>A (p.Val202Met) c.713G>A n.91G>A c.358+1221G>A (n.358+1221G>A) c.793G>A (p.Val265Met) | |
12 | g.55957253A= | CA2038181393 | PMEL | c.1050T= (p.Ser350=) c.888T= (p.Ser296=) c.603T= (p.Ser201=) c.712T= n.90T= c.358+1220T= (n.358+1220T=) c.792T= (p.Ser264=) | |
12 | g.55957253A>C | CA480364830 | PMEL | c.1050T>G (p.Ser350=) c.888T>G (p.Ser296=) c.603T>G (p.Ser201=) c.712T>G n.90T>G c.358+1220T>G (n.358+1220T>G) c.792T>G (p.Ser264=) | |
12 | g.55957253A>G | CA6620080 | PMEL | c.1050T>C (p.Ser350=) c.888T>C (p.Ser296=) c.603T>C (p.Ser201=) c.712T>C n.90T>C c.358+1220T>C (n.358+1220T>C) c.792T>C (p.Ser264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957253A>T | CA480364831 | PMEL | c.1050T>A (p.Ser350=) c.888T>A (p.Ser296=) c.603T>A (p.Ser201=) c.712T>A n.90T>A c.358+1220T>A (n.358+1220T>A) c.792T>A (p.Ser264=) | |
12 | g.55957254G>A | CA6620081 | PMEL | c.1049C>T (p.Ser350Phe) c.887C>T (p.Ser296Phe) c.602C>T (p.Ser201Phe) c.711C>T n.89C>T c.358+1219C>T (n.358+1219C>T) c.791C>T (p.Ser264Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957254G>C | CA385217495 | PMEL | c.1049C>G (p.Ser350Cys) c.887C>G (p.Ser296Cys) c.602C>G (p.Ser201Cys) c.711C>G n.89C>G c.358+1219C>G (n.358+1219C>G) c.791C>G (p.Ser264Cys) | |
12 | g.55957254G= | CA2038181398 | PMEL | c.1049C= (p.Ser350=) c.887C= (p.Ser296=) c.602C= (p.Ser201=) c.711C= n.89C= c.358+1219C= (n.358+1219C=) c.791C= (p.Ser264=) | |
12 | g.55957254G>T | CA385217497 | PMEL | c.1049C>A (p.Ser350Tyr) c.887C>A (p.Ser296Tyr) c.602C>A (p.Ser201Tyr) c.711C>A n.89C>A c.358+1219C>A (n.358+1219C>A) c.791C>A (p.Ser264Tyr) | dbSNP gnomAD v4 |
12 | g.55957255A>C | CA385217502 | PMEL | c.1048T>G (p.Ser350Ala) c.886T>G (p.Ser296Ala) c.601T>G (p.Ser201Ala) c.710T>G n.88T>G c.358+1218T>G (n.358+1218T>G) c.790T>G (p.Ser264Ala) | |
12 | g.55957255A>G | CA385217500 | PMEL | c.1048T>C (p.Ser350Pro) c.886T>C (p.Ser296Pro) c.601T>C (p.Ser201Pro) c.710T>C n.88T>C c.358+1218T>C (n.358+1218T>C) c.790T>C (p.Ser264Pro) | |
12 | g.55957255A>T | CA385217498 | PMEL | c.1048T>A (p.Ser350Thr) c.886T>A (p.Ser296Thr) c.601T>A (p.Ser201Thr) c.710T>A n.88T>A c.358+1218T>A (n.358+1218T>A) c.790T>A (p.Ser264Thr) | |
12 | g.55957256T>A | CA480364837 | PMEL | c.1047A>T (p.Thr349=) c.885A>T (p.Thr295=) c.600A>T (p.Thr200=) c.709A>T n.87A>T c.358+1217A>T (n.358+1217A>T) c.789A>T (p.Thr263=) | |
12 | g.55957256T>C | CA480364838 | PMEL | c.1047A>G (p.Thr349=) c.885A>G (p.Thr295=) c.600A>G (p.Thr200=) c.709A>G n.87A>G c.358+1217A>G (n.358+1217A>G) c.789A>G (p.Thr263=) | |
12 | g.55957256T>G | CA480364839 | PMEL | c.1047A>C (p.Thr349=) c.885A>C (p.Thr295=) c.600A>C (p.Thr200=) c.709A>C n.87A>C c.358+1217A>C (n.358+1217A>C) c.789A>C (p.Thr263=) | |
12 | g.55957257G>A | CA6620082 | PMEL | c.1046C>T (p.Thr349Ile) c.884C>T (p.Thr295Ile) c.599C>T (p.Thr200Ile) c.708C>T n.86C>T c.358+1216C>T (n.358+1216C>T) c.788C>T (p.Thr263Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957257G>C | CA385217506 | PMEL | c.1046C>G (p.Thr349Arg) c.884C>G (p.Thr295Arg) c.599C>G (p.Thr200Arg) c.708C>G n.86C>G c.358+1216C>G (n.358+1216C>G) c.788C>G (p.Thr263Arg) | |
12 | g.55957257G= | CA2038181401 | PMEL | c.1046C= (p.Thr349=) c.884C= (p.Thr295=) c.599C= (p.Thr200=) c.708C= n.86C= c.358+1216C= (n.358+1216C=) c.788C= (p.Thr263=) | |
12 | g.55957257G>T | CA385217508 | PMEL | c.1046C>A (p.Thr349Lys) c.884C>A (p.Thr295Lys) c.599C>A (p.Thr200Lys) c.708C>A n.86C>A c.358+1216C>A (n.358+1216C>A) c.788C>A (p.Thr263Lys) | gnomAD v4 |
12 | g.55957258T>A | CA385217509 | PMEL | c.1045A>T (p.Thr349Ser) c.883A>T (p.Thr295Ser) c.598A>T (p.Thr200Ser) c.707A>T n.85A>T c.358+1215A>T (n.358+1215A>T) c.787A>T (p.Thr263Ser) | |
12 | g.55957258T>C | CA385217511 | PMEL | c.1045A>G (p.Thr349Ala) c.883A>G (p.Thr295Ala) c.598A>G (p.Thr200Ala) c.707A>G n.85A>G c.358+1215A>G (n.358+1215A>G) c.787A>G (p.Thr263Ala) | |
12 | g.55957258T>G | CA385217512 | PMEL | c.1045A>C (p.Thr349Pro) c.883A>C (p.Thr295Pro) c.598A>C (p.Thr200Pro) c.707A>C n.85A>C c.358+1215A>C (n.358+1215A>C) c.787A>C (p.Thr263Pro) | |
12 | g.55957259G>A | CA480364843 | PMEL | c.1044C>T (p.Thr348=) c.897C>T (p.Thr299=) c.882C>T (p.Thr294=) c.597C>T (p.Thr199=) c.706C>T n.84C>T c.358+1214C>T (n.358+1214C>T) c.786C>T (p.Thr262=) | dbSNP gnomAD v4 |
12 | g.55957259G>C | CA480364844 | PMEL | c.1044C>G (p.Thr348=) c.897C>G (p.Thr299=) c.882C>G (p.Thr294=) c.597C>G (p.Thr199=) c.706C>G n.84C>G c.358+1214C>G (n.358+1214C>G) c.786C>G (p.Thr262=) | |
12 | g.55957259G= | CA2038181405 | PMEL | c.1044C= (p.Thr348=) c.897C= (p.Thr299=) c.882C= (p.Thr294=) c.597C= (p.Thr199=) c.706C= n.84C= c.358+1214C= (n.358+1214C=) c.786C= (p.Thr262=) | |
12 | g.55957259G>T | CA480364845 | PMEL | c.1044C>A (p.Thr348=) c.897C>A (p.Thr299=) c.882C>A (p.Thr294=) c.597C>A (p.Thr199=) c.706C>A n.84C>A c.358+1214C>A (n.358+1214C>A) c.786C>A (p.Thr262=) | |
12 | g.55957260G>A | CA385217514 | PMEL | c.1043C>T (p.Thr348Ile) c.896C>T (p.Thr299Ile) c.881C>T (p.Thr294Ile) c.596C>T (p.Thr199Ile) c.705C>T n.83C>T c.358+1213C>T (n.358+1213C>T) c.785C>T (p.Thr262Ile) | dbSNP |
12 | g.55957260G>C | CA385217515 | PMEL | c.1043C>G (p.Thr348Ser) c.896C>G (p.Thr299Ser) c.881C>G (p.Thr294Ser) c.596C>G (p.Thr199Ser) c.705C>G n.83C>G c.358+1213C>G (n.358+1213C>G) c.785C>G (p.Thr262Ser) | |
12 | g.55957260G= | CA2038181408 | PMEL | c.1043C= (p.Thr348=) c.896C= (p.Thr299=) c.881C= (p.Thr294=) c.596C= (p.Thr199=) c.705C= n.83C= c.358+1213C= (n.358+1213C=) c.785C= (p.Thr262=) | |
12 | g.55957260G>T | CA385217516 | PMEL | c.1043C>A (p.Thr348Asn) c.896C>A (p.Thr299Asn) c.881C>A (p.Thr294Asn) c.596C>A (p.Thr199Asn) c.705C>A n.83C>A c.358+1213C>A (n.358+1213C>A) c.785C>A (p.Thr262Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957261T>A | CA385217517 | PMEL | c.1042A>T (p.Thr348Ser) c.895A>T (p.Thr299Ser) c.880A>T (p.Thr294Ser) c.595A>T (p.Thr199Ser) c.704A>T n.82A>T c.358+1212A>T (n.358+1212A>T) c.784A>T (p.Thr262Ser) | |
12 | g.55957261T>C | CA385217518 | PMEL | c.1042A>G (p.Thr348Ala) c.895A>G (p.Thr299Ala) c.880A>G (p.Thr294Ala) c.595A>G (p.Thr199Ala) c.704A>G n.82A>G c.358+1212A>G (n.358+1212A>G) c.784A>G (p.Thr262Ala) | |
12 | g.55957261T>G | CA385217519 | PMEL | c.1042A>C (p.Thr348Pro) c.895A>C (p.Thr299Pro) c.880A>C (p.Thr294Pro) c.595A>C (p.Thr199Pro) c.704A>C n.82A>C c.358+1212A>C (n.358+1212A>C) c.784A>C (p.Thr262Pro) | |
12 | g.55957262T>A | CA480364850 | PMEL | c.1041A>T (p.Gly347=) c.894A>T (p.Gly298=) c.879A>T (p.Gly293=) c.594A>T (p.Gly198=) c.703A>T n.81A>T c.358+1211A>T (n.358+1211A>T) c.783A>T (p.Gly261=) | |
12 | g.55957262T>C | CA480364851 | PMEL | c.1041A>G (p.Gly347=) c.894A>G (p.Gly298=) c.879A>G (p.Gly293=) c.594A>G (p.Gly198=) c.703A>G n.81A>G c.358+1211A>G (n.358+1211A>G) c.783A>G (p.Gly261=) | |
12 | g.55957262T>G | CA480364852 | PMEL | c.1041A>C (p.Gly347=) c.894A>C (p.Gly298=) c.879A>C (p.Gly293=) c.594A>C (p.Gly198=) c.703A>C n.81A>C c.358+1211A>C (n.358+1211A>C) c.783A>C (p.Gly261=) | |
12 | g.55957263C>A | CA6620083 | PMEL | c.1040G>T (p.Gly347Val) c.893G>T (p.Gly298Val) c.878G>T (p.Gly293Val) c.593G>T (p.Gly198Val) c.702G>T n.80G>T c.358+1210G>T (n.358+1210G>T) c.782G>T (p.Gly261Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55957263C= | CA2038181414 | PMEL | c.1040G= (p.Gly347=) c.893G= (p.Gly298=) c.878G= (p.Gly293=) c.593G= (p.Gly198=) c.702G= n.80G= c.358+1210G= (n.358+1210G=) c.782G= (p.Gly261=) | |
12 | g.55957263C>G | CA385217524 | PMEL | c.1040G>C (p.Gly347Ala) c.893G>C (p.Gly298Ala) c.878G>C (p.Gly293Ala) c.593G>C (p.Gly198Ala) c.702G>C n.80G>C c.358+1210G>C (n.358+1210G>C) c.782G>C (p.Gly261Ala) | |
12 | g.55957263C>T | CA385217522 | PMEL | c.1040G>A (p.Gly347Glu) c.893G>A (p.Gly298Glu) c.878G>A (p.Gly293Glu) c.593G>A (p.Gly198Glu) c.702G>A n.80G>A c.358+1210G>A (n.358+1210G>A) c.782G>A (p.Gly261Glu) | |
12 | g.55957264C>A | CA385217529 | PMEL | c.1039G>T (p.Gly347Ter) c.892G>T (p.Gly298Ter) c.877G>T (p.Gly293Ter) c.592G>T (p.Gly198Ter) c.701G>T n.79G>T c.358+1209G>T (n.358+1209G>T) c.781G>T (p.Gly261Ter) | |
12 | g.55957264C>G | CA385217526 | PMEL | c.1039G>C (p.Gly347Arg) c.892G>C (p.Gly298Arg) c.877G>C (p.Gly293Arg) c.592G>C (p.Gly198Arg) c.701G>C n.79G>C c.358+1209G>C (n.358+1209G>C) c.781G>C (p.Gly261Arg) | |
12 | g.55957264C>T | CA385217527 | PMEL | c.1039G>A (p.Gly347Arg) c.892G>A (p.Gly298Arg) c.877G>A (p.Gly293Arg) c.592G>A (p.Gly198Arg) c.701G>A n.79G>A c.358+1209G>A (n.358+1209G>A) c.781G>A (p.Gly261Arg) | gnomAD v4 |
12 | g.55957265A>C | CA480364855 | PMEL | c.1038T>G (p.Ser346=) c.891T>G (p.Ser297=) c.876T>G (p.Ser292=) c.591T>G (p.Ser197=) c.700T>G n.78T>G c.358+1208T>G (n.358+1208T>G) c.780T>G (p.Ser260=) | |
12 | g.55957265A>G | CA480364859 | PMEL | c.1038T>C (p.Ser346=) c.891T>C (p.Ser297=) c.876T>C (p.Ser292=) c.591T>C (p.Ser197=) c.700T>C n.78T>C c.358+1208T>C (n.358+1208T>C) c.780T>C (p.Ser260=) | |
12 | g.55957265A>T | CA480364857 | PMEL | c.1038T>A (p.Ser346=) c.891T>A (p.Ser297=) c.876T>A (p.Ser292=) c.591T>A (p.Ser197=) c.700T>A n.78T>A c.358+1208T>A (n.358+1208T>A) c.780T>A (p.Ser260=) | |
12 | g.55957266G>A | CA385217531 | PMEL | c.1037C>T (p.Ser346Phe) c.890C>T (p.Ser297Phe) c.875C>T (p.Ser292Phe) c.590C>T (p.Ser197Phe) c.699C>T n.77C>T c.358+1207C>T (n.358+1207C>T) c.779C>T (p.Ser260Phe) | |
12 | g.55957266G>C | CA385217532 | PMEL | c.1037C>G (p.Ser346Cys) c.890C>G (p.Ser297Cys) c.875C>G (p.Ser292Cys) c.590C>G (p.Ser197Cys) c.699C>G n.77C>G c.358+1207C>G (n.358+1207C>G) c.779C>G (p.Ser260Cys) | |
12 | g.55957266G>T | CA385217533 | PMEL | c.1037C>A (p.Ser346Tyr) c.890C>A (p.Ser297Tyr) c.875C>A (p.Ser292Tyr) c.590C>A (p.Ser197Tyr) c.699C>A n.77C>A c.358+1207C>A (n.358+1207C>A) c.779C>A (p.Ser260Tyr) | |
12 | g.55957267A>C | CA385217534 | PMEL | c.1036T>G (p.Ser346Ala) c.889T>G (p.Ser297Ala) c.874T>G (p.Ser292Ala) c.589T>G (p.Ser197Ala) c.698T>G n.76T>G c.358+1206T>G (n.358+1206T>G) c.778T>G (p.Ser260Ala) | |
12 | g.55957267A>G | CA385217535 | PMEL | c.1036T>C (p.Ser346Pro) c.889T>C (p.Ser297Pro) c.874T>C (p.Ser292Pro) c.589T>C (p.Ser197Pro) c.698T>C n.76T>C c.358+1206T>C (n.358+1206T>C) c.778T>C (p.Ser260Pro) | |
12 | g.55957267A>T | CA385217536 | PMEL | c.1036T>A (p.Ser346Thr) c.889T>A (p.Ser297Thr) c.874T>A (p.Ser292Thr) c.589T>A (p.Ser197Thr) c.698T>A n.76T>A c.358+1206T>A (n.358+1206T>A) c.778T>A (p.Ser260Thr) | |
12 | g.55957268G>A | CA480364862 | PMEL | c.1035C>T (p.Pro345=) c.888C>T (p.Pro296=) c.873C>T (p.Pro291=) c.588C>T (p.Pro196=) c.697C>T n.75C>T c.358+1205C>T (n.358+1205C>T) c.777C>T (p.Pro259=) | |
12 | g.55957268G>C | CA480364864 | PMEL | c.1035C>G (p.Pro345=) c.888C>G (p.Pro296=) c.873C>G (p.Pro291=) c.588C>G (p.Pro196=) c.697C>G n.75C>G c.358+1205C>G (n.358+1205C>G) c.777C>G (p.Pro259=) | |
12 | g.55957268G>T | CA480364866 | PMEL | c.1035C>A (p.Pro345=) c.888C>A (p.Pro296=) c.873C>A (p.Pro291=) c.588C>A (p.Pro196=) c.697C>A n.75C>A c.358+1205C>A (n.358+1205C>A) c.777C>A (p.Pro259=) | |
12 | g.55957269G>A | CA385217537 | PMEL | c.1034C>T (p.Pro345Leu) c.887C>T (p.Pro296Leu) c.872C>T (p.Pro291Leu) c.587C>T (p.Pro196Leu) c.696C>T n.74C>T c.358+1204C>T (n.358+1204C>T) c.776C>T (p.Pro259Leu) | |
12 | g.55957269G>C | CA385217538 | PMEL | c.1034C>G (p.Pro345Arg) c.887C>G (p.Pro296Arg) c.872C>G (p.Pro291Arg) c.587C>G (p.Pro196Arg) c.696C>G n.74C>G c.358+1204C>G (n.358+1204C>G) c.776C>G (p.Pro259Arg) | |
12 | g.55957269G>T | CA385217539 | PMEL | c.1034C>A (p.Pro345His) c.887C>A (p.Pro296His) c.872C>A (p.Pro291His) c.587C>A (p.Pro196His) c.696C>A n.74C>A c.358+1204C>A (n.358+1204C>A) c.776C>A (p.Pro259His) | dbSNP |
12 | g.55957270G>A | CA385217542 | PMEL | c.1033C>T (p.Pro345Ser) c.886C>T (p.Pro296Ser) c.871C>T (p.Pro291Ser) c.586C>T (p.Pro196Ser) c.695C>T n.73C>T c.358+1203C>T (n.358+1203C>T) c.775C>T (p.Pro259Ser) | |
12 | g.55957270G>C | CA385217541 | PMEL | c.1033C>G (p.Pro345Ala) c.886C>G (p.Pro296Ala) c.871C>G (p.Pro291Ala) c.586C>G (p.Pro196Ala) c.695C>G n.73C>G c.358+1203C>G (n.358+1203C>G) c.775C>G (p.Pro259Ala) | |
12 | g.55957270G>T | CA385217540 | PMEL | c.1033C>A (p.Pro345Thr) c.886C>A (p.Pro296Thr) c.871C>A (p.Pro291Thr) c.586C>A (p.Pro196Thr) c.695C>A n.73C>A c.358+1203C>A (n.358+1203C>A) c.775C>A (p.Pro259Thr) | |
12 | g.55957271C>A | CA385217543 | PMEL | c.1032G>T (p.Glu344Asp) c.885G>T (p.Glu295Asp) c.870G>T (p.Glu290Asp) c.585G>T (p.Glu195Asp) c.694G>T n.72G>T c.358+1202G>T (n.358+1202G>T) c.774G>T (p.Glu258Asp) | |
12 | g.55957271C>G | CA385217545 | PMEL | c.1032G>C (p.Glu344Asp) c.885G>C (p.Glu295Asp) c.870G>C (p.Glu290Asp) c.585G>C (p.Glu195Asp) c.694G>C n.72G>C c.358+1202G>C (n.358+1202G>C) c.774G>C (p.Glu258Asp) | |
12 | g.55957271C>T | CA480364873 | PMEL | c.1032G>A (p.Glu344=) c.885G>A (p.Glu295=) c.870G>A (p.Glu290=) c.585G>A (p.Glu195=) c.694G>A n.72G>A c.358+1202G>A (n.358+1202G>A) c.774G>A (p.Glu258=) | |
12 | g.55957272T>A | CA385217547 | PMEL | c.1031A>T (p.Glu344Val) c.884A>T (p.Glu295Val) c.869A>T (p.Glu290Val) c.584A>T (p.Glu195Val) c.693A>T n.71A>T c.358+1201A>T (n.358+1201A>T) c.773A>T (p.Glu258Val) | |
12 | g.55957272T>C | CA385217548 | PMEL | c.1031A>G (p.Glu344Gly) c.884A>G (p.Glu295Gly) c.869A>G (p.Glu290Gly) c.584A>G (p.Glu195Gly) c.693A>G n.71A>G c.358+1201A>G (n.358+1201A>G) c.773A>G (p.Glu258Gly) | |
12 | g.55957272T>G | CA385217549 | PMEL | c.1031A>C (p.Glu344Ala) c.884A>C (p.Glu295Ala) c.869A>C (p.Glu290Ala) c.584A>C (p.Glu195Ala) c.693A>C n.71A>C c.358+1201A>C (n.358+1201A>C) c.773A>C (p.Glu258Ala) | |
12 | g.55957273C>A | CA385217550 | PMEL | c.1030G>T (p.Glu344Ter) c.883G>T (p.Glu295Ter) c.868G>T (p.Glu290Ter) c.583G>T (p.Glu195Ter) c.692G>T n.70G>T c.358+1200G>T (n.358+1200G>T) c.772G>T (p.Glu258Ter) | |
12 | g.55957273C>G | CA385217551 | PMEL | c.1030G>C (p.Glu344Gln) c.883G>C (p.Glu295Gln) c.868G>C (p.Glu290Gln) c.583G>C (p.Glu195Gln) c.692G>C n.70G>C c.358+1200G>C (n.358+1200G>C) c.772G>C (p.Glu258Gln) | |
12 | g.55957273C>T | CA385217553 | PMEL | c.1030G>A (p.Glu344Lys) c.883G>A (p.Glu295Lys) c.868G>A (p.Glu290Lys) c.583G>A (p.Glu195Lys) c.692G>A n.70G>A c.358+1200G>A (n.358+1200G>A) c.772G>A (p.Glu258Lys) | |
12 | g.55957274T>A | CA480364876 | PMEL | c.1029A>T (p.Ala343=) c.882A>T (p.Ala294=) c.867A>T (p.Ala289=) c.582A>T (p.Ala194=) c.691A>T n.69A>T c.358+1199A>T (n.358+1199A>T) c.771A>T (p.Ala257=) | |
12 | g.55957274T>C | CA6620084 | PMEL | c.1029A>G (p.Ala343=) c.882A>G (p.Ala294=) c.867A>G (p.Ala289=) c.582A>G (p.Ala194=) c.691A>G n.69A>G c.358+1199A>G (n.358+1199A>G) c.771A>G (p.Ala257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957274T>G | CA480364875 | PMEL | c.1029A>C (p.Ala343=) c.882A>C (p.Ala294=) c.867A>C (p.Ala289=) c.582A>C (p.Ala194=) c.691A>C n.69A>C c.358+1199A>C (n.358+1199A>C) c.771A>C (p.Ala257=) | |
12 | g.55957274T= | CA2038181420 | PMEL | c.1029A= (p.Ala343=) c.882A= (p.Ala294=) c.867A= (p.Ala289=) c.582A= (p.Ala194=) c.691A= n.69A= c.358+1199A= (n.358+1199A=) c.771A= (p.Ala257=) | |
12 | g.55957275G>A | CA385217556 | PMEL | c.1028C>T (p.Ala343Val) c.881C>T (p.Ala294Val) c.866C>T (p.Ala289Val) c.581C>T (p.Ala194Val) c.690C>T n.68C>T c.358+1198C>T (n.358+1198C>T) c.770C>T (p.Ala257Val) | gnomAD v4 |
12 | g.55957275G>C | CA385217558 | PMEL | c.1028C>G (p.Ala343Gly) c.881C>G (p.Ala294Gly) c.866C>G (p.Ala289Gly) c.581C>G (p.Ala194Gly) c.690C>G n.68C>G c.358+1198C>G (n.358+1198C>G) c.770C>G (p.Ala257Gly) | |
12 | g.55957275G= | CA2038181426 | PMEL | c.1028C= (p.Ala343=) c.881C= (p.Ala294=) c.866C= (p.Ala289=) c.581C= (p.Ala194=) c.690C= n.68C= c.358+1198C= (n.358+1198C=) c.770C= (p.Ala257=) | |
12 | g.55957275G>T | CA385217560 | PMEL | c.1028C>A (p.Ala343Glu) c.881C>A (p.Ala294Glu) c.866C>A (p.Ala289Glu) c.581C>A (p.Ala194Glu) c.690C>A n.68C>A c.358+1198C>A (n.358+1198C>A) c.770C>A (p.Ala257Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957276C>A | CA385217562 | PMEL | c.1027G>T (p.Ala343Ser) c.880G>T (p.Ala294Ser) c.865G>T (p.Ala289Ser) c.580G>T (p.Ala194Ser) c.689G>T n.67G>T c.358+1197G>T (n.358+1197G>T) c.769G>T (p.Ala257Ser) | |
12 | g.55957276C>G | CA385217565 | PMEL | c.1027G>C (p.Ala343Pro) c.880G>C (p.Ala294Pro) c.865G>C (p.Ala289Pro) c.580G>C (p.Ala194Pro) c.689G>C n.67G>C c.358+1197G>C (n.358+1197G>C) c.769G>C (p.Ala257Pro) | |
12 | g.55957276C>T | CA385217561 | PMEL | c.1027G>A (p.Ala343Thr) c.880G>A (p.Ala294Thr) c.865G>A (p.Ala289Thr) c.580G>A (p.Ala194Thr) c.689G>A n.67G>A c.358+1197G>A (n.358+1197G>A) c.769G>A (p.Ala257Thr) | |
12 | g.55957277A>C | CA480364877 | PMEL | c.1026T>G (p.Thr342=) c.879T>G (p.Thr293=) c.864T>G (p.Thr288=) c.579T>G (p.Thr193=) c.688T>G n.66T>G c.358+1196T>G (n.358+1196T>G) c.768T>G (p.Thr256=) | |
12 | g.55957277A>G | CA480364878 | PMEL | c.1026T>C (p.Thr342=) c.879T>C (p.Thr293=) c.864T>C (p.Thr288=) c.579T>C (p.Thr193=) c.688T>C n.66T>C c.358+1196T>C (n.358+1196T>C) c.768T>C (p.Thr256=) | |
12 | g.55957277A>T | CA480364879 | PMEL | c.1026T>A (p.Thr342=) c.879T>A (p.Thr293=) c.864T>A (p.Thr288=) c.579T>A (p.Thr193=) c.688T>A n.66T>A c.358+1196T>A (n.358+1196T>A) c.768T>A (p.Thr256=) | |
12 | g.55957278G>A | CA385217567 | PMEL | c.1025C>T (p.Thr342Ile) c.878C>T (p.Thr293Ile) c.863C>T (p.Thr288Ile) c.578C>T (p.Thr193Ile) c.687C>T n.65C>T c.358+1195C>T (n.358+1195C>T) c.767C>T (p.Thr256Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957278G>C | CA385217568 | PMEL | c.1025C>G (p.Thr342Ser) c.878C>G (p.Thr293Ser) c.863C>G (p.Thr288Ser) c.578C>G (p.Thr193Ser) c.687C>G n.65C>G c.358+1195C>G (n.358+1195C>G) c.767C>G (p.Thr256Ser) | |
12 | g.55957278G= | CA2038181430 | PMEL | c.1025C= (p.Thr342=) c.878C= (p.Thr293=) c.863C= (p.Thr288=) c.578C= (p.Thr193=) c.687C= n.65C= c.358+1195C= (n.358+1195C=) c.767C= (p.Thr256=) | |
12 | g.55957278G>T | CA385217569 | PMEL | c.1025C>A (p.Thr342Asn) c.878C>A (p.Thr293Asn) c.863C>A (p.Thr288Asn) c.578C>A (p.Thr193Asn) c.687C>A n.65C>A c.358+1195C>A (n.358+1195C>A) c.767C>A (p.Thr256Asn) | |
12 | g.55957279T>A | CA385217571 | PMEL | c.1024A>T (p.Thr342Ser) c.877A>T (p.Thr293Ser) c.862A>T (p.Thr288Ser) c.577A>T (p.Thr193Ser) c.686A>T n.64A>T c.358+1194A>T (n.358+1194A>T) c.766A>T (p.Thr256Ser) | |
12 | g.55957279T>C | CA385217573 | PMEL | c.1024A>G (p.Thr342Ala) c.877A>G (p.Thr293Ala) c.862A>G (p.Thr288Ala) c.577A>G (p.Thr193Ala) c.686A>G n.64A>G c.358+1194A>G (n.358+1194A>G) c.766A>G (p.Thr256Ala) | |
12 | g.55957279T>G | CA385217574 | PMEL | c.1024A>C (p.Thr342Pro) c.877A>C (p.Thr293Pro) c.862A>C (p.Thr288Pro) c.577A>C (p.Thr193Pro) c.686A>C n.64A>C c.358+1194A>C (n.358+1194A>C) c.766A>C (p.Thr256Pro) | |
12 | g.55957280T>A | CA480364884 | PMEL | c.1023A>T (p.Pro341=) c.876A>T (p.Pro292=) c.861A>T (p.Pro287=) c.576A>T (p.Pro192=) c.685A>T n.63A>T c.358+1193A>T (n.358+1193A>T) c.765A>T (p.Pro255=) | |
12 | g.55957280T>C | CA480364885 | PMEL | c.1023A>G (p.Pro341=) c.876A>G (p.Pro292=) c.861A>G (p.Pro287=) c.576A>G (p.Pro192=) c.685A>G n.63A>G c.358+1193A>G (n.358+1193A>G) c.765A>G (p.Pro255=) | |
12 | g.55957280T>G | CA480364886 | PMEL | c.1023A>C (p.Pro341=) c.876A>C (p.Pro292=) c.861A>C (p.Pro287=) c.576A>C (p.Pro192=) c.685A>C n.63A>C c.358+1193A>C (n.358+1193A>C) c.765A>C (p.Pro255=) | |
12 | g.55957281G>A | CA385217576 | PMEL | c.1022C>T (p.Pro341Leu) c.875C>T (p.Pro292Leu) c.860C>T (p.Pro287Leu) c.575C>T (p.Pro192Leu) c.684C>T n.62C>T c.358+1192C>T (n.358+1192C>T) c.764C>T (p.Pro255Leu) | |
12 | g.55957281G>C | CA385217578 | PMEL | c.1022C>G (p.Pro341Arg) c.875C>G (p.Pro292Arg) c.860C>G (p.Pro287Arg) c.575C>G (p.Pro192Arg) c.684C>G n.62C>G c.358+1192C>G (n.358+1192C>G) c.764C>G (p.Pro255Arg) | |
12 | g.55957281G>T | CA385217579 | PMEL | c.1022C>A (p.Pro341Gln) c.875C>A (p.Pro292Gln) c.860C>A (p.Pro287Gln) c.575C>A (p.Pro192Gln) c.684C>A n.62C>A c.358+1192C>A (n.358+1192C>A) c.764C>A (p.Pro255Gln) | |
12 | g.55957282G>A | CA385217581 | PMEL | c.1021C>T (p.Pro341Ser) c.874C>T (p.Pro292Ser) c.859C>T (p.Pro287Ser) c.574C>T (p.Pro192Ser) c.683C>T n.61C>T c.358+1191C>T (n.358+1191C>T) c.763C>T (p.Pro255Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.55957282G>C | CA385217583 | PMEL | c.1021C>G (p.Pro341Ala) c.874C>G (p.Pro292Ala) c.859C>G (p.Pro287Ala) c.574C>G (p.Pro192Ala) c.683C>G n.61C>G c.358+1191C>G (n.358+1191C>G) c.763C>G (p.Pro255Ala) | |
12 | g.55957282G= | CA2038181434 | PMEL | c.1021C= (p.Pro341=) c.874C= (p.Pro292=) c.859C= (p.Pro287=) c.574C= (p.Pro192=) c.683C= n.61C= c.358+1191C= (n.358+1191C=) c.763C= (p.Pro255=) | |
12 | g.55957282G>T | CA385217585 | PMEL | c.1021C>A (p.Pro341Thr) c.874C>A (p.Pro292Thr) c.859C>A (p.Pro287Thr) c.574C>A (p.Pro192Thr) c.683C>A n.61C>A c.358+1191C>A (n.358+1191C>A) c.763C>A (p.Pro255Thr) | gnomAD v4 |
12 | g.55957283C>A | CA480364889 | PMEL | c.1020G>T (p.Ala340=) c.873G>T (p.Ala291=) c.858G>T (p.Ala286=) c.573G>T (p.Ala191=) c.682G>T n.60G>T c.358+1190G>T (n.358+1190G>T) c.762G>T (p.Ala254=) | |
12 | g.55957283C= | CA2038181440 | PMEL | c.1020G= (p.Ala340=) c.873G= (p.Ala291=) c.858G= (p.Ala286=) c.573G= (p.Ala191=) c.682G= n.60G= c.358+1190G= (n.358+1190G=) c.762G= (p.Ala254=) | |
12 | g.55957283C>G | CA480364891 | PMEL | c.1020G>C (p.Ala340=) c.873G>C (p.Ala291=) c.858G>C (p.Ala286=) c.573G>C (p.Ala191=) c.682G>C n.60G>C c.358+1190G>C (n.358+1190G>C) c.762G>C (p.Ala254=) | |
12 | g.55957283C>T | CA6620085 | PMEL | c.1020G>A (p.Ala340=) c.873G>A (p.Ala291=) c.858G>A (p.Ala286=) c.573G>A (p.Ala191=) c.682G>A n.60G>A c.358+1190G>A (n.358+1190G>A) c.762G>A (p.Ala254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55957284G>A | CA6620086 | PMEL | c.1019C>T (p.Ala340Val) c.872C>T (p.Ala291Val) c.857C>T (p.Ala286Val) c.572C>T (p.Ala191Val) c.681C>T n.59C>T c.358+1189C>T (n.358+1189C>T) c.761C>T (p.Ala254Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.55957284G>C | CA385217587 | PMEL | c.1019C>G (p.Ala340Gly) c.872C>G (p.Ala291Gly) c.857C>G (p.Ala286Gly) c.572C>G (p.Ala191Gly) c.681C>G n.59C>G c.358+1189C>G (n.358+1189C>G) c.761C>G (p.Ala254Gly) | |
12 | g.55957284G= | CA2038181444 | PMEL | c.1019C= (p.Ala340=) c.872C= (p.Ala291=) c.857C= (p.Ala286=) c.572C= (p.Ala191=) c.681C= n.59C= c.358+1189C= (n.358+1189C=) c.761C= (p.Ala254=) | |
12 | g.55957284G>T | CA6620087 | PMEL | c.1019C>A (p.Ala340Glu) c.872C>A (p.Ala291Glu) c.857C>A (p.Ala286Glu) c.572C>A (p.Ala191Glu) c.681C>A n.59C>A c.358+1189C>A (n.358+1189C>A) c.761C>A (p.Ala254Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |