| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 12 | g.55957285C>A | CA385217590 | PMEL | c.1018G>T (p.Ala340Ser) c.871G>T (p.Ala291Ser) c.856G>T (p.Ala286Ser) c.571G>T (p.Ala191Ser) c.680G>T n.58G>T c.358+1188G>T (n.358+1188G>T) c.760G>T (p.Ala254Ser) n.754G>T | |
| 12 | g.55957285C>G | CA385217591 | PMEL | c.1018G>C (p.Ala340Pro) c.871G>C (p.Ala291Pro) c.856G>C (p.Ala286Pro) c.571G>C (p.Ala191Pro) c.680G>C n.58G>C c.358+1188G>C (n.358+1188G>C) c.760G>C (p.Ala254Pro) n.754G>C | |
| 12 | g.55957285C>T | CA385217592 | PMEL | c.1018G>A (p.Ala340Thr) c.871G>A (p.Ala291Thr) c.856G>A (p.Ala286Thr) c.571G>A (p.Ala191Thr) c.680G>A n.58G>A c.358+1188G>A (n.358+1188G>A) c.760G>A (p.Ala254Thr) n.754G>A | |
| 12 | g.55957286C>A | CA385217594 | PMEL | c.1017G>T (p.Gln339His) c.870G>T (p.Gln290His) c.855G>T (p.Gln285His) c.570G>T (p.Gln190His) c.679G>T n.57G>T c.358+1187G>T (n.358+1187G>T) c.759G>T (p.Gln253His) n.753G>T | |
| 12 | g.55957286C= | CA2038181452 | PMEL | c.1017G= (p.Gln339=) c.870G= (p.Gln290=) c.855G= (p.Gln285=) c.570G= (p.Gln190=) c.679G= n.57G= c.358+1187G= (n.358+1187G=) c.759G= (p.Gln253=) n.753G= | |
| 12 | g.55957286C>G | CA385217596 | PMEL | c.1017G>C (p.Gln339His) c.870G>C (p.Gln290His) c.855G>C (p.Gln285His) c.570G>C (p.Gln190His) c.679G>C n.57G>C c.358+1187G>C (n.358+1187G>C) c.759G>C (p.Gln253His) n.753G>C | |
| 12 | g.55957286C>T | CA480364896 | PMEL | c.1017G>A (p.Gln339=) c.870G>A (p.Gln290=) c.855G>A (p.Gln285=) c.570G>A (p.Gln190=) c.679G>A n.57G>A c.358+1187G>A (n.358+1187G>A) c.759G>A (p.Gln253=) n.753G>A | dbSNP |
| 12 | g.55957287T>A | CA385217597 | PMEL | c.1016A>T (p.Gln339Leu) c.869A>T (p.Gln290Leu) c.854A>T (p.Gln285Leu) c.569A>T (p.Gln190Leu) c.678A>T n.56A>T c.358+1186A>T (n.358+1186A>T) c.758A>T (p.Gln253Leu) n.752A>T | |
| 12 | g.55957287T>C | CA385217599 | PMEL | c.1016A>G (p.Gln339Arg) c.869A>G (p.Gln290Arg) c.854A>G (p.Gln285Arg) c.569A>G (p.Gln190Arg) c.678A>G n.56A>G c.358+1186A>G (n.358+1186A>G) c.758A>G (p.Gln253Arg) n.752A>G | |
| 12 | g.55957287T>G | CA385217600 | PMEL | c.1016A>C (p.Gln339Pro) c.869A>C (p.Gln290Pro) c.854A>C (p.Gln285Pro) c.569A>C (p.Gln190Pro) c.678A>C n.56A>C c.358+1186A>C (n.358+1186A>C) c.758A>C (p.Gln253Pro) n.752A>C | |
| 12 | g.55957288G>A | CA237591020 | PMEL | c.1015C>T (p.Gln339Ter) c.868C>T (p.Gln290Ter) c.853C>T (p.Gln285Ter) c.568C>T (p.Gln190Ter) c.677C>T n.55C>T c.358+1185C>T (n.358+1185C>T) c.757C>T (p.Gln253Ter) n.751C>T | dbSNP gnomAD v4 |
| 12 | g.55957288G>C | CA385217603 | PMEL | c.1015C>G (p.Gln339Glu) c.868C>G (p.Gln290Glu) c.853C>G (p.Gln285Glu) c.568C>G (p.Gln190Glu) c.677C>G n.55C>G c.358+1185C>G (n.358+1185C>G) c.757C>G (p.Gln253Glu) n.751C>G | |
| 12 | g.55957288G= | CA2038181455 | PMEL | c.1015C= (p.Gln339=) c.868C= (p.Gln290=) c.853C= (p.Gln285=) c.568C= (p.Gln190=) c.677C= n.55C= c.358+1185C= (n.358+1185C=) c.757C= (p.Gln253=) n.751C= | |
| 12 | g.55957288G>T | CA385217604 | PMEL | c.1015C>A (p.Gln339Lys) c.868C>A (p.Gln290Lys) c.853C>A (p.Gln285Lys) c.568C>A (p.Gln190Lys) c.677C>A n.55C>A c.358+1185C>A (n.358+1185C>A) c.757C>A (p.Gln253Lys) n.751C>A | gnomAD v4 |
| 12 | g.55957289A= | CA2038181459 | PMEL | c.1014T= (p.Gly338=) c.867T= (p.Gly289=) c.852T= (p.Gly284=) c.567T= (p.Gly189=) c.676T= n.54T= c.358+1184T= (n.358+1184T=) c.756T= (p.Gly252=) n.750T= | |
| 12 | g.55957289A>C | CA480364900 | PMEL | c.1014T>G (p.Gly338=) c.867T>G (p.Gly289=) c.852T>G (p.Gly284=) c.567T>G (p.Gly189=) c.676T>G n.54T>G c.358+1184T>G (n.358+1184T>G) c.756T>G (p.Gly252=) n.750T>G | |
| 12 | g.55957289A>G | CA237591024 | PMEL | c.1014T>C (p.Gly338=) c.867T>C (p.Gly289=) c.852T>C (p.Gly284=) c.567T>C (p.Gly189=) c.676T>C n.54T>C c.358+1184T>C (n.358+1184T>C) c.756T>C (p.Gly252=) n.750T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957289A>T | CA480364902 | PMEL | c.1014T>A (p.Gly338=) c.867T>A (p.Gly289=) c.852T>A (p.Gly284=) c.567T>A (p.Gly189=) c.676T>A n.54T>A c.358+1184T>A (n.358+1184T>A) c.756T>A (p.Gly252=) n.750T>A | |
| 12 | g.55957290C>A | CA385217606 | PMEL | c.1013G>T (p.Gly338Val) c.866G>T (p.Gly289Val) c.851G>T (p.Gly284Val) c.566G>T (p.Gly189Val) c.675G>T n.53G>T c.358+1183G>T (n.358+1183G>T) c.755G>T (p.Gly252Val) n.749G>T | |
| 12 | g.55957290C= | CA2038181466 | PMEL | c.1013G= (p.Gly338=) c.866G= (p.Gly289=) c.851G= (p.Gly284=) c.566G= (p.Gly189=) c.675G= n.53G= c.358+1183G= (n.358+1183G=) c.755G= (p.Gly252=) n.749G= | |
| 12 | g.55957290C>G | CA385217608 | PMEL | c.1013G>C (p.Gly338Ala) c.866G>C (p.Gly289Ala) c.851G>C (p.Gly284Ala) c.566G>C (p.Gly189Ala) c.675G>C n.53G>C c.358+1183G>C (n.358+1183G>C) c.755G>C (p.Gly252Ala) n.749G>C | |
| 12 | g.55957290C>T | CA237591025 | PMEL | c.1013G>A (p.Gly338Asp) c.866G>A (p.Gly289Asp) c.851G>A (p.Gly284Asp) c.566G>A (p.Gly189Asp) c.675G>A n.53G>A c.358+1183G>A (n.358+1183G>A) c.755G>A (p.Gly252Asp) n.749G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957291C>A | CA385217611 | PMEL | c.1012G>T (p.Gly338Cys) c.865G>T (p.Gly289Cys) c.850G>T (p.Gly284Cys) c.565G>T (p.Gly189Cys) c.674G>T n.52G>T c.358+1182G>T (n.358+1182G>T) c.754G>T (p.Gly252Cys) n.748G>T | |
| 12 | g.55957291C>G | CA385217612 | PMEL | c.1012G>C (p.Gly338Arg) c.865G>C (p.Gly289Arg) c.850G>C (p.Gly284Arg) c.565G>C (p.Gly189Arg) c.674G>C n.52G>C c.358+1182G>C (n.358+1182G>C) c.754G>C (p.Gly252Arg) n.748G>C | |
| 12 | g.55957291C>T | CA385217610 | PMEL | c.1012G>A (p.Gly338Ser) c.865G>A (p.Gly289Ser) c.850G>A (p.Gly284Ser) c.565G>A (p.Gly189Ser) c.674G>A n.52G>A c.358+1182G>A (n.358+1182G>A) c.754G>A (p.Gly252Ser) n.748G>A | COSMIC |
| 12 | g.55957292A>C | CA480364906 | PMEL | c.1011T>G (p.Pro337=) c.864T>G (p.Pro288=) c.849T>G (p.Pro283=) c.564T>G (p.Pro188=) c.673T>G n.51T>G c.358+1181T>G (n.358+1181T>G) c.753T>G (p.Pro251=) n.747T>G | |
| 12 | g.55957292A>G | CA480364907 | PMEL | c.1011T>C (p.Pro337=) c.864T>C (p.Pro288=) c.849T>C (p.Pro283=) c.564T>C (p.Pro188=) c.673T>C n.51T>C c.358+1181T>C (n.358+1181T>C) c.753T>C (p.Pro251=) n.747T>C | |
| 12 | g.55957292A>T | CA480364908 | PMEL | c.1011T>A (p.Pro337=) c.864T>A (p.Pro288=) c.849T>A (p.Pro283=) c.564T>A (p.Pro188=) c.673T>A n.51T>A c.358+1181T>A (n.358+1181T>A) c.753T>A (p.Pro251=) n.747T>A | |
| 12 | g.55957293G>A | CA385217615 | PMEL | c.1010C>T (p.Pro337Leu) c.863C>T (p.Pro288Leu) c.848C>T (p.Pro283Leu) c.563C>T (p.Pro188Leu) c.672C>T n.50C>T c.358+1180C>T (n.358+1180C>T) c.752C>T (p.Pro251Leu) n.746C>T | |
| 12 | g.55957293G>C | CA385217613 | PMEL | c.1010C>G (p.Pro337Arg) c.863C>G (p.Pro288Arg) c.848C>G (p.Pro283Arg) c.563C>G (p.Pro188Arg) c.672C>G n.50C>G c.358+1180C>G (n.358+1180C>G) c.752C>G (p.Pro251Arg) n.746C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957293G= | CA2038181472 | PMEL | c.1010C= (p.Pro337=) c.863C= (p.Pro288=) c.848C= (p.Pro283=) c.563C= (p.Pro188=) c.672C= n.50C= c.358+1180C= (n.358+1180C=) c.752C= (p.Pro251=) n.746C= | |
| 12 | g.55957293G>T | CA385217617 | PMEL | c.1010C>A (p.Pro337His) c.863C>A (p.Pro288His) c.848C>A (p.Pro283His) c.563C>A (p.Pro188His) c.672C>A n.50C>A c.358+1180C>A (n.358+1180C>A) c.752C>A (p.Pro251His) n.746C>A | |
| 12 | g.55957294G>A | CA385217619 | PMEL | c.1009C>T (p.Pro337Ser) c.862C>T (p.Pro288Ser) c.847C>T (p.Pro283Ser) c.562C>T (p.Pro188Ser) c.671C>T n.49C>T c.358+1179C>T (n.358+1179C>T) c.751C>T (p.Pro251Ser) n.745C>T | |
| 12 | g.55957294G>C | CA6620088 | PMEL | c.1009C>G (p.Pro337Ala) c.862C>G (p.Pro288Ala) c.847C>G (p.Pro283Ala) c.562C>G (p.Pro188Ala) c.671C>G n.49C>G c.358+1179C>G (n.358+1179C>G) c.751C>G (p.Pro251Ala) n.745C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957294G= | CA2038181475 | PMEL | c.1009C= (p.Pro337=) c.862C= (p.Pro288=) c.847C= (p.Pro283=) c.562C= (p.Pro188=) c.671C= n.49C= c.358+1179C= (n.358+1179C=) c.751C= (p.Pro251=) n.745C= | |
| 12 | g.55957294G>T | CA385217620 | PMEL | c.1009C>A (p.Pro337Thr) c.862C>A (p.Pro288Thr) c.847C>A (p.Pro283Thr) c.562C>A (p.Pro188Thr) c.671C>A n.49C>A c.358+1179C>A (n.358+1179C>A) c.751C>A (p.Pro251Thr) n.745C>A | |
| 12 | g.55957296_55957297del | CA2619241067 | PMEL | c.1008_1009del (p.Pro337TrpfsTer20) c.861_862del (p.Pro288TrpfsTer?) c.846_847del (p.Pro283TrpfsTer20) c.561_562del (p.Pro188TrpfsTer20) c.670_671del n.48_49del c.358+1178_358+1179del (n.358+1178_358+1179del) c.750_751del (p.Pro251TrpfsTer20) n.744_745del | gnomAD v4 |
| 12 | g.55957295T>A | CA480364910 | PMEL | c.1008A>T (p.Thr336=) c.861A>T (p.Thr287=) c.846A>T (p.Thr282=) c.561A>T (p.Thr187=) c.670A>T n.48A>T c.358+1178A>T (n.358+1178A>T) c.750A>T (p.Thr250=) n.744A>T | |
| 12 | g.55957295T>C | CA480364912 | PMEL | c.1008A>G (p.Thr336=) c.861A>G (p.Thr287=) c.846A>G (p.Thr282=) c.561A>G (p.Thr187=) c.670A>G n.48A>G c.358+1178A>G (n.358+1178A>G) c.750A>G (p.Thr250=) n.744A>G | |
| 12 | g.55957295T>G | CA480364911 | PMEL | c.1008A>C (p.Thr336=) c.861A>C (p.Thr287=) c.846A>C (p.Thr282=) c.561A>C (p.Thr187=) c.670A>C n.48A>C c.358+1178A>C (n.358+1178A>C) c.750A>C (p.Thr250=) n.744A>C | |
| 12 | g.55957296G>A | CA385217622 | PMEL | c.1007C>T (p.Thr336Ile) c.860C>T (p.Thr287Ile) c.845C>T (p.Thr282Ile) c.560C>T (p.Thr187Ile) c.669C>T n.47C>T c.358+1177C>T (n.358+1177C>T) c.749C>T (p.Thr250Ile) n.743C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957296G>C | CA385217624 | PMEL | c.1007C>G (p.Thr336Arg) c.860C>G (p.Thr287Arg) c.845C>G (p.Thr282Arg) c.560C>G (p.Thr187Arg) c.669C>G n.47C>G c.358+1177C>G (n.358+1177C>G) c.749C>G (p.Thr250Arg) n.743C>G | |
| 12 | g.55957296G= | CA2038181477 | PMEL | c.1007C= (p.Thr336=) c.860C= (p.Thr287=) c.845C= (p.Thr282=) c.560C= (p.Thr187=) c.669C= n.47C= c.358+1177C= (n.358+1177C=) c.749C= (p.Thr250=) n.743C= | |
| 12 | g.55957296G>T | CA385217626 | PMEL | c.1007C>A (p.Thr336Lys) c.860C>A (p.Thr287Lys) c.845C>A (p.Thr282Lys) c.560C>A (p.Thr187Lys) c.669C>A n.47C>A c.358+1177C>A (n.358+1177C>A) c.749C>A (p.Thr250Lys) n.743C>A | |
| 12 | g.55957299_55957301del | CA2619241070 | PMEL | c.1005_1007del (p.Thr336del) c.858_860del (p.Thr287del) c.843_845del (p.Thr282del) c.558_560del (p.Thr187del) c.667_669del n.45_47del c.358+1175_358+1177del (n.358+1175_358+1177del) c.747_749del (p.Thr250del) n.741_743del | gnomAD v4 |
| 12 | g.55957297T>A | CA385217627 | PMEL | c.1006A>T (p.Thr336Ser) c.859A>T (p.Thr287Ser) c.844A>T (p.Thr282Ser) c.559A>T (p.Thr187Ser) c.668A>T n.46A>T c.358+1176A>T (n.358+1176A>T) c.748A>T (p.Thr250Ser) n.742A>T |