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.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 | |
| 12 | g.55957297T>C | CA385217629 | PMEL | c.1006A>G (p.Thr336Ala) c.859A>G (p.Thr287Ala) c.844A>G (p.Thr282Ala) c.559A>G (p.Thr187Ala) c.668A>G n.46A>G c.358+1176A>G (n.358+1176A>G) c.748A>G (p.Thr250Ala) n.742A>G | |
| 12 | g.55957297T>G | CA385217631 | PMEL | c.1006A>C (p.Thr336Pro) c.859A>C (p.Thr287Pro) c.844A>C (p.Thr282Pro) c.559A>C (p.Thr187Pro) c.668A>C n.46A>C c.358+1176A>C (n.358+1176A>C) c.748A>C (p.Thr250Pro) n.742A>C | |
| 12 | g.55957298A>C | CA480364918 | PMEL | c.1005T>G (p.Thr335=) c.858T>G (p.Thr286=) c.843T>G (p.Thr281=) c.558T>G (p.Thr186=) c.667T>G n.45T>G c.358+1175T>G (n.358+1175T>G) c.747T>G (p.Thr249=) n.741T>G | |
| 12 | g.55957298A>G | CA480364919 | PMEL | c.1005T>C (p.Thr335=) c.858T>C (p.Thr286=) c.843T>C (p.Thr281=) c.558T>C (p.Thr186=) c.667T>C n.45T>C c.358+1175T>C (n.358+1175T>C) c.747T>C (p.Thr249=) n.741T>C | |
| 12 | g.55957298A>T | CA480364920 | PMEL | c.1005T>A (p.Thr335=) c.858T>A (p.Thr286=) c.843T>A (p.Thr281=) c.558T>A (p.Thr186=) c.667T>A n.45T>A c.358+1175T>A (n.358+1175T>A) c.747T>A (p.Thr249=) n.741T>A | |
| 12 | g.55957299G>A | CA385217632 | PMEL | c.1004C>T (p.Thr335Ile) c.857C>T (p.Thr286Ile) c.842C>T (p.Thr281Ile) c.557C>T (p.Thr186Ile) c.666C>T n.44C>T c.358+1174C>T (n.358+1174C>T) c.746C>T (p.Thr249Ile) n.740C>T | |
| 12 | g.55957299G>C | CA385217634 | PMEL | c.1004C>G (p.Thr335Ser) c.857C>G (p.Thr286Ser) c.842C>G (p.Thr281Ser) c.557C>G (p.Thr186Ser) c.666C>G n.44C>G c.358+1174C>G (n.358+1174C>G) c.746C>G (p.Thr249Ser) n.740C>G | |
| 12 | g.55957299G>T | CA385217636 | PMEL | c.1004C>A (p.Thr335Asn) c.857C>A (p.Thr286Asn) c.842C>A (p.Thr281Asn) c.557C>A (p.Thr186Asn) c.666C>A n.44C>A c.358+1174C>A (n.358+1174C>A) c.746C>A (p.Thr249Asn) n.740C>A | gnomAD v4 |
| 12 | g.55957300T>A | CA385217639 | PMEL | c.1003A>T (p.Thr335Ser) c.856A>T (p.Thr286Ser) c.841A>T (p.Thr281Ser) c.556A>T (p.Thr186Ser) c.665A>T n.43A>T c.358+1173A>T (n.358+1173A>T) c.745A>T (p.Thr249Ser) n.739A>T | |
| 12 | g.55957300T>C | CA6620089 | PMEL | c.1003A>G (p.Thr335Ala) c.856A>G (p.Thr286Ala) c.841A>G (p.Thr281Ala) c.556A>G (p.Thr186Ala) c.665A>G n.43A>G c.358+1173A>G (n.358+1173A>G) c.745A>G (p.Thr249Ala) n.739A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957300T>G | CA385217638 | PMEL | c.1003A>C (p.Thr335Pro) c.856A>C (p.Thr286Pro) c.841A>C (p.Thr281Pro) c.556A>C (p.Thr186Pro) c.665A>C n.43A>C c.358+1173A>C (n.358+1173A>C) c.745A>C (p.Thr249Pro) n.739A>C | |
| 12 | g.55957300T= | CA2038181482 | PMEL | c.1003A= (p.Thr335=) c.856A= (p.Thr286=) c.841A= (p.Thr281=) c.556A= (p.Thr186=) c.665A= n.43A= c.358+1173A= (n.358+1173A=) c.745A= (p.Thr249=) n.739A= | |
| 12 | g.55957301A>C | CA480364922 | PMEL | c.1002T>G (p.Gly334=) c.855T>G (p.Gly285=) c.840T>G (p.Gly280=) c.555T>G (p.Gly185=) c.664T>G n.42T>G c.358+1172T>G (n.358+1172T>G) c.744T>G (p.Gly248=) n.738T>G | |
| 12 | g.55957301A>G | CA480364923 | PMEL | c.1002T>C (p.Gly334=) c.855T>C (p.Gly285=) c.840T>C (p.Gly280=) c.555T>C (p.Gly185=) c.664T>C n.42T>C c.358+1172T>C (n.358+1172T>C) c.744T>C (p.Gly248=) n.738T>C | |
| 12 | g.55957301A>T | CA480364924 | PMEL | c.1002T>A (p.Gly334=) c.855T>A (p.Gly285=) c.840T>A (p.Gly280=) c.555T>A (p.Gly185=) c.664T>A n.42T>A c.358+1172T>A (n.358+1172T>A) c.744T>A (p.Gly248=) n.738T>A | |
| 12 | g.55957302C>A | CA385217642 | PMEL | c.1001G>T (p.Gly334Val) c.854G>T (p.Gly285Val) c.839G>T (p.Gly280Val) c.554G>T (p.Gly185Val) c.663G>T n.41G>T c.358+1171G>T (n.358+1171G>T) c.743G>T (p.Gly248Val) n.737G>T | |
| 12 | g.55957302C>G | CA385217643 | PMEL | c.1001G>C (p.Gly334Ala) c.854G>C (p.Gly285Ala) c.839G>C (p.Gly280Ala) c.554G>C (p.Gly185Ala) c.663G>C n.41G>C c.358+1171G>C (n.358+1171G>C) c.743G>C (p.Gly248Ala) n.737G>C | |
| 12 | g.55957302C>T | CA385217644 | PMEL | c.1001G>A (p.Gly334Asp) c.854G>A (p.Gly285Asp) c.839G>A (p.Gly280Asp) c.554G>A (p.Gly185Asp) c.663G>A n.41G>A c.358+1171G>A (n.358+1171G>A) c.743G>A (p.Gly248Asp) n.737G>A | |
| 12 | g.55957304del | CA2575274099 | PMEL | c.1001del (p.Gly334ValfsTer26) c.854del (p.Gly285ValfsTer?) c.839del (p.Gly280ValfsTer26) c.554del (p.Gly185ValfsTer26) c.663del n.41del c.358+1171del (n.358+1171del) c.743del (p.Gly248ValfsTer26) n.737del | |
| 12 | g.55957303C>A | CA385217646 | PMEL | c.1000G>T (p.Gly334Cys) c.853G>T (p.Gly285Cys) c.838G>T (p.Gly280Cys) c.553G>T (p.Gly185Cys) c.662G>T n.40G>T c.358+1170G>T (n.358+1170G>T) c.742G>T (p.Gly248Cys) n.736G>T | |
| 12 | g.55957303C= | CA2038181487 | PMEL | c.1000G= (p.Gly334=) c.853G= (p.Gly285=) c.838G= (p.Gly280=) c.553G= (p.Gly185=) c.662G= n.40G= c.358+1170G= (n.358+1170G=) c.742G= (p.Gly248=) n.736G= | |
| 12 | g.55957303C>G | CA6620090 | PMEL | c.1000G>C (p.Gly334Arg) c.853G>C (p.Gly285Arg) c.838G>C (p.Gly280Arg) c.553G>C (p.Gly185Arg) c.662G>C n.40G>C c.358+1170G>C (n.358+1170G>C) c.742G>C (p.Gly248Arg) n.736G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957303C>T | CA385217647 | PMEL | c.1000G>A (p.Gly334Ser) c.853G>A (p.Gly285Ser) c.838G>A (p.Gly280Ser) c.553G>A (p.Gly185Ser) c.662G>A n.40G>A c.358+1170G>A (n.358+1170G>A) c.742G>A (p.Gly248Ser) n.736G>A | gnomAD v4 |
| 12 | g.55957304C>A | CA480364931 | PMEL | c.999G>T (p.Val333=) c.852G>T (p.Val284=) c.837G>T (p.Val279=) c.552G>T (p.Val184=) c.661G>T n.39G>T c.358+1169G>T (n.358+1169G>T) c.741G>T (p.Val247=) n.735G>T | |
| 12 | g.55957304C>G | CA480364932 | PMEL | c.999G>C (p.Val333=) c.852G>C (p.Val284=) c.837G>C (p.Val279=) c.552G>C (p.Val184=) c.661G>C n.39G>C c.358+1169G>C (n.358+1169G>C) c.741G>C (p.Val247=) n.735G>C | |
| 12 | g.55957304C>T | CA480364933 | PMEL | c.999G>A (p.Val333=) c.852G>A (p.Val284=) c.837G>A (p.Val279=) c.552G>A (p.Val184=) c.661G>A n.39G>A c.358+1169G>A (n.358+1169G>A) c.741G>A (p.Val247=) n.735G>A | |
| 12 | g.55957305A>C | CA385217648 | PMEL | c.998T>G (p.Val333Gly) c.851T>G (p.Val284Gly) c.836T>G (p.Val279Gly) c.551T>G (p.Val184Gly) c.660T>G n.38T>G c.358+1168T>G (n.358+1168T>G) c.740T>G (p.Val247Gly) n.734T>G | |
| 12 | g.55957305A>G | CA385217650 | PMEL | c.998T>C (p.Val333Ala) c.851T>C (p.Val284Ala) c.836T>C (p.Val279Ala) c.551T>C (p.Val184Ala) c.660T>C n.38T>C c.358+1168T>C (n.358+1168T>C) c.740T>C (p.Val247Ala) n.734T>C | gnomAD v4 |
| 12 | g.55957305A>T | CA385217652 | PMEL | c.998T>A (p.Val333Glu) c.851T>A (p.Val284Glu) c.836T>A (p.Val279Glu) c.551T>A (p.Val184Glu) c.660T>A n.38T>A c.358+1168T>A (n.358+1168T>A) c.740T>A (p.Val247Glu) n.734T>A | |
| 12 | g.55957306C>A | CA385217653 | PMEL | c.997G>T (p.Val333Leu) c.850G>T (p.Val284Leu) c.835G>T (p.Val279Leu) c.550G>T (p.Val184Leu) c.659G>T n.37G>T c.358+1167G>T (n.358+1167G>T) c.739G>T (p.Val247Leu) n.733G>T | gnomAD v4 |
| 12 | g.55957306C= | CA2038181489 | PMEL | c.997G= (p.Val333=) c.850G= (p.Val284=) c.835G= (p.Val279=) c.550G= (p.Val184=) c.659G= n.37G= c.358+1167G= (n.358+1167G=) c.739G= (p.Val247=) n.733G= | |
| 12 | g.55957306C>G | CA385217654 | PMEL | c.997G>C (p.Val333Leu) c.850G>C (p.Val284Leu) c.835G>C (p.Val279Leu) c.550G>C (p.Val184Leu) c.659G>C n.37G>C c.358+1167G>C (n.358+1167G>C) c.739G>C (p.Val247Leu) n.733G>C | |
| 12 | g.55957306C>T | CA385217656 | PMEL | c.997G>A (p.Val333Met) c.850G>A (p.Val284Met) c.835G>A (p.Val279Met) c.550G>A (p.Val184Met) c.659G>A n.37G>A c.358+1167G>A (n.358+1167G>A) c.739G>A (p.Val247Met) n.733G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957307A>C | CA480364938 | PMEL | c.996T>G (p.Val332=) c.849T>G (p.Val283=) c.834T>G (p.Val278=) c.549T>G (p.Val183=) c.658T>G n.36T>G c.358+1166T>G (n.358+1166T>G) c.738T>G (p.Val246=) n.732T>G | |
| 12 | g.55957307A>G | CA480364940 | PMEL | c.996T>C (p.Val332=) c.849T>C (p.Val283=) c.834T>C (p.Val278=) c.549T>C (p.Val183=) c.658T>C n.36T>C c.358+1166T>C (n.358+1166T>C) c.738T>C (p.Val246=) n.732T>C | dbSNP |
| 12 | g.55957307A>T | CA480364939 | PMEL | c.996T>A (p.Val332=) c.849T>A (p.Val283=) c.834T>A (p.Val278=) c.549T>A (p.Val183=) c.658T>A n.36T>A c.358+1166T>A (n.358+1166T>A) c.738T>A (p.Val246=) n.732T>A | |
| 12 | g.55957308A>C | CA385217661 | PMEL | c.995T>G (p.Val332Gly) c.848T>G (p.Val283Gly) c.833T>G (p.Val278Gly) c.548T>G (p.Val183Gly) c.657T>G n.35T>G c.358+1165T>G (n.358+1165T>G) c.737T>G (p.Val246Gly) n.731T>G | |
| 12 | g.55957308A>G | CA385217660 | PMEL | c.995T>C (p.Val332Ala) c.848T>C (p.Val283Ala) c.833T>C (p.Val278Ala) c.548T>C (p.Val183Ala) c.657T>C n.35T>C c.358+1165T>C (n.358+1165T>C) c.737T>C (p.Val246Ala) n.731T>C | gnomAD v4 |
| 12 | g.55957308A>T | CA385217658 | PMEL | c.995T>A (p.Val332Asp) c.848T>A (p.Val283Asp) c.833T>A (p.Val278Asp) c.548T>A (p.Val183Asp) c.657T>A n.35T>A c.358+1165T>A (n.358+1165T>A) c.737T>A (p.Val246Asp) n.731T>A | |
| 12 | g.55957309C>A | CA385217666 | PMEL | c.994G>T (p.Val332Phe) c.847G>T (p.Val283Phe) c.832G>T (p.Val278Phe) c.547G>T (p.Val183Phe) c.656G>T n.34G>T c.358+1164G>T (n.358+1164G>T) c.736G>T (p.Val246Phe) n.730G>T | |
| 12 | g.55957309C= | CA2038181492 | PMEL | c.994G= (p.Val332=) c.847G= (p.Val283=) c.832G= (p.Val278=) c.547G= (p.Val183=) c.656G= n.34G= c.358+1164G= (n.358+1164G=) c.736G= (p.Val246=) n.730G= | |
| 12 | g.55957309C>G | CA385217663 | PMEL | c.994G>C (p.Val332Leu) c.847G>C (p.Val283Leu) c.832G>C (p.Val278Leu) c.547G>C (p.Val183Leu) c.656G>C n.34G>C c.358+1164G>C (n.358+1164G>C) c.736G>C (p.Val246Leu) n.730G>C | |
| 12 | g.55957309C>T | CA6620091 | PMEL | c.994G>A (p.Val332Ile) c.847G>A (p.Val283Ile) c.832G>A (p.Val278Ile) c.547G>A (p.Val183Ile) c.656G>A n.34G>A c.358+1164G>A (n.358+1164G>A) c.736G>A (p.Val246Ile) n.730G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957310T>A | CA385217667 | PMEL | c.993A>T (p.Glu331Asp) c.846A>T (p.Glu282Asp) c.831A>T (p.Glu277Asp) c.546A>T (p.Glu182Asp) c.655A>T n.33A>T c.358+1163A>T (n.358+1163A>T) c.735A>T (p.Glu245Asp) n.729A>T | |
| 12 | g.55957310T>C | CA480364945 | PMEL | c.993A>G (p.Glu331=) c.846A>G (p.Glu282=) c.831A>G (p.Glu277=) c.546A>G (p.Glu182=) c.655A>G n.33A>G c.358+1163A>G (n.358+1163A>G) c.735A>G (p.Glu245=) n.729A>G | |
| 12 | g.55957310T>G | CA385217668 | PMEL | c.993A>C (p.Glu331Asp) c.846A>C (p.Glu282Asp) c.831A>C (p.Glu277Asp) c.546A>C (p.Glu182Asp) c.655A>C n.33A>C c.358+1163A>C (n.358+1163A>C) c.735A>C (p.Glu245Asp) n.729A>C | |
| 12 | g.55957311T>A | CA385217671 | PMEL | c.992A>T (p.Glu331Val) c.845A>T (p.Glu282Val) c.830A>T (p.Glu277Val) c.545A>T (p.Glu182Val) c.654A>T n.32A>T c.358+1162A>T (n.358+1162A>T) c.734A>T (p.Glu245Val) n.728A>T | |
| 12 | g.55957311T>C | CA385217672 | PMEL | c.992A>G (p.Glu331Gly) c.845A>G (p.Glu282Gly) c.830A>G (p.Glu277Gly) c.545A>G (p.Glu182Gly) c.654A>G n.32A>G c.358+1162A>G (n.358+1162A>G) c.734A>G (p.Glu245Gly) n.728A>G | |
| 12 | g.55957311T>G | CA385217674 | PMEL | c.992A>C (p.Glu331Ala) c.845A>C (p.Glu282Ala) c.830A>C (p.Glu277Ala) c.545A>C (p.Glu182Ala) c.654A>C n.32A>C c.358+1162A>C (n.358+1162A>C) c.734A>C (p.Glu245Ala) n.728A>C | |
| 12 | g.55957312C>A | CA385217675 | PMEL | c.991G>T (p.Glu331Ter) c.844G>T (p.Glu282Ter) c.829G>T (p.Glu277Ter) c.544G>T (p.Glu182Ter) c.653G>T n.31G>T c.358+1161G>T (n.358+1161G>T) c.733G>T (p.Glu245Ter) n.727G>T | |
| 12 | g.55957312C>G | CA385217678 | PMEL | c.991G>C (p.Glu331Gln) c.844G>C (p.Glu282Gln) c.829G>C (p.Glu277Gln) c.544G>C (p.Glu182Gln) c.653G>C n.31G>C c.358+1161G>C (n.358+1161G>C) c.733G>C (p.Glu245Gln) n.727G>C | |
| 12 | g.55957312C>T | CA385217677 | PMEL | c.991G>A (p.Glu331Lys) c.844G>A (p.Glu282Lys) c.829G>A (p.Glu277Lys) c.544G>A (p.Glu182Lys) c.653G>A n.31G>A c.358+1161G>A (n.358+1161G>A) c.733G>A (p.Glu245Lys) n.727G>A | |
| 12 | g.55957313T>A | CA480364950 | PMEL | c.990A>T (p.Thr330=) c.843A>T (p.Thr281=) c.828A>T (p.Thr276=) c.543A>T (p.Thr181=) c.652A>T n.30A>T c.358+1160A>T (n.358+1160A>T) c.732A>T (p.Thr244=) n.726A>T | |
| 12 | g.55957313T>C | CA6620092 | PMEL | c.990A>G (p.Thr330=) c.843A>G (p.Thr281=) c.828A>G (p.Thr276=) c.543A>G (p.Thr181=) c.652A>G n.30A>G c.358+1160A>G (n.358+1160A>G) c.732A>G (p.Thr244=) n.726A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957313T>G | CA480364951 | PMEL | c.990A>C (p.Thr330=) c.843A>C (p.Thr281=) c.828A>C (p.Thr276=) c.543A>C (p.Thr181=) c.652A>C n.30A>C c.358+1160A>C (n.358+1160A>C) c.732A>C (p.Thr244=) n.726A>C | |
| 12 | g.55957313T= | CA2038181497 | PMEL | c.990A= (p.Thr330=) c.843A= (p.Thr281=) c.828A= (p.Thr276=) c.543A= (p.Thr181=) c.652A= n.30A= c.358+1160A= (n.358+1160A=) c.732A= (p.Thr244=) n.726A= | |
| 12 | g.55957314G>A | CA237591030 | PMEL | c.989C>T (p.Thr330Ile) c.842C>T (p.Thr281Ile) c.827C>T (p.Thr276Ile) c.542C>T (p.Thr181Ile) c.651C>T n.29C>T c.358+1159C>T (n.358+1159C>T) c.731C>T (p.Thr244Ile) n.725C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957314G>C | CA385217681 | PMEL | c.989C>G (p.Thr330Arg) c.842C>G (p.Thr281Arg) c.827C>G (p.Thr276Arg) c.542C>G (p.Thr181Arg) c.651C>G n.29C>G c.358+1159C>G (n.358+1159C>G) c.731C>G (p.Thr244Arg) n.725C>G | |
| 12 | g.55957314G= | CA2038181501 | PMEL | c.989C= (p.Thr330=) c.842C= (p.Thr281=) c.827C= (p.Thr276=) c.542C= (p.Thr181=) c.651C= n.29C= c.358+1159C= (n.358+1159C=) c.731C= (p.Thr244=) n.725C= | |
| 12 | g.55957314G>T | CA385217683 | PMEL | c.989C>A (p.Thr330Lys) c.842C>A (p.Thr281Lys) c.827C>A (p.Thr276Lys) c.542C>A (p.Thr181Lys) c.651C>A n.29C>A c.358+1159C>A (n.358+1159C>A) c.731C>A (p.Thr244Lys) n.725C>A | |
| 12 | g.55957315T>A | CA385217685 | PMEL | c.988A>T (p.Thr330Ser) c.841A>T (p.Thr281Ser) c.826A>T (p.Thr276Ser) c.541A>T (p.Thr181Ser) c.650A>T n.28A>T c.358+1158A>T (n.358+1158A>T) c.730A>T (p.Thr244Ser) n.724A>T | |
| 12 | g.55957315T>C | CA385217687 | PMEL | c.988A>G (p.Thr330Ala) c.841A>G (p.Thr281Ala) c.826A>G (p.Thr276Ala) c.541A>G (p.Thr181Ala) c.650A>G n.28A>G c.358+1158A>G (n.358+1158A>G) c.730A>G (p.Thr244Ala) n.724A>G | gnomAD v4 |
| 12 | g.55957315T>G | CA385217686 | PMEL | c.988A>C (p.Thr330Pro) c.841A>C (p.Thr281Pro) c.826A>C (p.Thr276Pro) c.541A>C (p.Thr181Pro) c.650A>C n.28A>C c.358+1158A>C (n.358+1158A>C) c.730A>C (p.Thr244Pro) n.724A>C | |
| 12 | g.55957316A= | CA2038181502 | PMEL | c.987T= (p.Thr329=) c.840T= (p.Thr280=) c.825T= (p.Thr275=) c.540T= (p.Thr180=) c.649T= n.27T= c.358+1157T= (n.358+1157T=) c.729T= (p.Thr243=) n.723T= | |
| 12 | g.55957316A>C | CA480364953 | PMEL | c.987T>G (p.Thr329=) c.840T>G (p.Thr280=) c.825T>G (p.Thr275=) c.540T>G (p.Thr180=) c.649T>G n.27T>G c.358+1157T>G (n.358+1157T>G) c.729T>G (p.Thr243=) n.723T>G | gnomAD v4 |
| 12 | g.55957316A>G | CA480364954 | PMEL | c.987T>C (p.Thr329=) c.840T>C (p.Thr280=) c.825T>C (p.Thr275=) c.540T>C (p.Thr180=) c.649T>C n.27T>C c.358+1157T>C (n.358+1157T>C) c.729T>C (p.Thr243=) n.723T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957316A>T | CA480364956 | PMEL | c.987T>A (p.Thr329=) c.840T>A (p.Thr280=) c.825T>A (p.Thr275=) c.540T>A (p.Thr180=) c.649T>A n.27T>A c.358+1157T>A (n.358+1157T>A) c.729T>A (p.Thr243=) n.723T>A | |
| 12 | g.55957317G>A | CA385217689 | PMEL | c.986C>T (p.Thr329Ile) c.839C>T (p.Thr280Ile) c.824C>T (p.Thr275Ile) c.539C>T (p.Thr180Ile) c.648C>T n.26C>T c.358+1156C>T (n.358+1156C>T) c.728C>T (p.Thr243Ile) n.722C>T | |
| 12 | g.55957317G>C | CA385217690 | PMEL | c.986C>G (p.Thr329Ser) c.839C>G (p.Thr280Ser) c.824C>G (p.Thr275Ser) c.539C>G (p.Thr180Ser) c.648C>G n.26C>G c.358+1156C>G (n.358+1156C>G) c.728C>G (p.Thr243Ser) n.722C>G | |
| 12 | g.55957317G>T | CA385217692 | PMEL | c.986C>A (p.Thr329Asn) c.839C>A (p.Thr280Asn) c.824C>A (p.Thr275Asn) c.539C>A (p.Thr180Asn) c.648C>A n.26C>A c.358+1156C>A (n.358+1156C>A) c.728C>A (p.Thr243Asn) n.722C>A | |
| 12 | g.55957318T>A | CA385217693 | PMEL | c.985A>T (p.Thr329Ser) c.838A>T (p.Thr280Ser) c.823A>T (p.Thr275Ser) c.538A>T (p.Thr180Ser) c.647A>T n.25A>T c.358+1155A>T (n.358+1155A>T) c.727A>T (p.Thr243Ser) n.721A>T | |
| 12 | g.55957318T>C | CA385217694 | PMEL | c.985A>G (p.Thr329Ala) c.838A>G (p.Thr280Ala) c.823A>G (p.Thr275Ala) c.538A>G (p.Thr180Ala) c.647A>G n.25A>G c.358+1155A>G (n.358+1155A>G) c.727A>G (p.Thr243Ala) n.721A>G | |
| 12 | g.55957318T>G | CA385217695 | PMEL | c.985A>C (p.Thr329Pro) c.838A>C (p.Thr280Pro) c.823A>C (p.Thr275Pro) c.538A>C (p.Thr180Pro) c.647A>C n.25A>C c.358+1155A>C (n.358+1155A>C) c.727A>C (p.Thr243Pro) n.721A>C | |
| 12 | g.55957319A>C | CA480364957 | PMEL | c.984T>G (p.Pro328=) c.837T>G (p.Pro279=) c.822T>G (p.Pro274=) c.537T>G (p.Pro179=) c.646T>G n.24T>G c.358+1154T>G (n.358+1154T>G) c.726T>G (p.Pro242=) n.720T>G | |
| 12 | g.55957319A>G | CA480364958 | PMEL | c.984T>C (p.Pro328=) c.837T>C (p.Pro279=) c.822T>C (p.Pro274=) c.537T>C (p.Pro179=) c.646T>C n.24T>C c.358+1154T>C (n.358+1154T>C) c.726T>C (p.Pro242=) n.720T>C | |
| 12 | g.55957319A>T | CA480364959 | PMEL | c.984T>A (p.Pro328=) c.837T>A (p.Pro279=) c.822T>A (p.Pro274=) c.537T>A (p.Pro179=) c.646T>A n.24T>A c.358+1154T>A (n.358+1154T>A) c.726T>A (p.Pro242=) n.720T>A | |
| 12 | g.55957320G>A | CA385217697 | PMEL | c.983C>T (p.Pro328Leu) c.836C>T (p.Pro279Leu) c.821C>T (p.Pro274Leu) c.536C>T (p.Pro179Leu) c.645C>T n.23C>T c.358+1153C>T (n.358+1153C>T) c.725C>T (p.Pro242Leu) n.719C>T | |
| 12 | g.55957320G>C | CA385217698 | PMEL | c.983C>G (p.Pro328Arg) c.836C>G (p.Pro279Arg) c.821C>G (p.Pro274Arg) c.536C>G (p.Pro179Arg) c.645C>G n.23C>G c.358+1153C>G (n.358+1153C>G) c.725C>G (p.Pro242Arg) n.719C>G | |
| 12 | g.55957320G>T | CA385217700 | PMEL | c.983C>A (p.Pro328His) c.836C>A (p.Pro279His) c.821C>A (p.Pro274His) c.536C>A (p.Pro179His) c.645C>A n.23C>A c.358+1153C>A (n.358+1153C>A) c.725C>A (p.Pro242His) n.719C>A | |
| 12 | g.55957321G>A | CA385217701 | PMEL | c.982C>T (p.Pro328Ser) c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) c.535C>T (p.Pro179Ser) c.644C>T n.22C>T c.358+1152C>T (n.358+1152C>T) c.724C>T (p.Pro242Ser) n.718C>T | |
| 12 | g.55957321G>C | CA385217704 | PMEL | c.982C>G (p.Pro328Ala) c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) c.535C>G (p.Pro179Ala) c.644C>G n.22C>G c.358+1152C>G (n.358+1152C>G) c.724C>G (p.Pro242Ala) n.718C>G | |
| 12 | g.55957321G>T | CA385217707 | PMEL | c.982C>A (p.Pro328Thr) c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) c.535C>A (p.Pro179Thr) c.644C>A n.22C>A c.358+1152C>A (n.358+1152C>A) c.724C>A (p.Pro242Thr) n.718C>A | gnomAD v4 |
| 12 | g.55957322C>A | CA480364965 | PMEL | c.981G>T (p.Val327=) c.834G>T (p.Val278=) c.819G>T (p.Val273=) c.534G>T (p.Val178=) c.643G>T n.21G>T c.358+1151G>T (n.358+1151G>T) c.723G>T (p.Val241=) n.717G>T | |
| 12 | g.55957322C>G | CA480364961 | PMEL | c.981G>C (p.Val327=) c.834G>C (p.Val278=) c.819G>C (p.Val273=) c.534G>C (p.Val178=) c.643G>C n.21G>C c.358+1151G>C (n.358+1151G>C) c.723G>C (p.Val241=) n.717G>C | |
| 12 | g.55957322C>T | CA480364963 | PMEL | c.981G>A (p.Val327=) c.834G>A (p.Val278=) c.819G>A (p.Val273=) c.534G>A (p.Val178=) c.643G>A n.21G>A c.358+1151G>A (n.358+1151G>A) c.723G>A (p.Val241=) n.717G>A | gnomAD v4 |
| 12 | g.55957323A>C | CA385217710 | PMEL | c.980T>G (p.Val327Gly) c.833T>G (p.Val278Gly) c.818T>G (p.Val273Gly) c.533T>G (p.Val178Gly) c.642T>G n.20T>G c.358+1150T>G (n.358+1150T>G) c.722T>G (p.Val241Gly) n.716T>G | |
| 12 | g.55957323A>G | CA385217712 | PMEL | c.980T>C (p.Val327Ala) c.833T>C (p.Val278Ala) c.818T>C (p.Val273Ala) c.533T>C (p.Val178Ala) c.642T>C n.20T>C c.358+1150T>C (n.358+1150T>C) c.722T>C (p.Val241Ala) n.716T>C | |
| 12 | g.55957323A>T | CA385217708 | PMEL | c.980T>A (p.Val327Glu) c.833T>A (p.Val278Glu) c.818T>A (p.Val273Glu) c.533T>A (p.Val178Glu) c.642T>A n.20T>A c.358+1150T>A (n.358+1150T>A) c.722T>A (p.Val241Glu) n.716T>A | |
| 12 | g.55957324C>A | CA385217713 | PMEL | c.979G>T (p.Val327Leu) c.832G>T (p.Val278Leu) c.817G>T (p.Val273Leu) c.532G>T (p.Val178Leu) c.641G>T n.19G>T c.358+1149G>T (n.358+1149G>T) c.721G>T (p.Val241Leu) n.715G>T | |
| 12 | g.55957324C= | CA2038181503 | PMEL | c.979G= (p.Val327=) c.832G= (p.Val278=) c.817G= (p.Val273=) c.532G= (p.Val178=) c.641G= n.19G= c.358+1149G= (n.358+1149G=) c.721G= (p.Val241=) n.715G= | |
| 12 | g.55957324C>G | CA385217716 | PMEL | c.979G>C (p.Val327Leu) c.832G>C (p.Val278Leu) c.817G>C (p.Val273Leu) c.532G>C (p.Val178Leu) c.641G>C n.19G>C c.358+1149G>C (n.358+1149G>C) c.721G>C (p.Val241Leu) n.715G>C | dbSNP |
| 12 | g.55957324C>T | CA385217715 | PMEL | c.979G>A (p.Val327Met) c.832G>A (p.Val278Met) c.817G>A (p.Val273Met) c.532G>A (p.Val178Met) c.641G>A n.19G>A c.358+1149G>A (n.358+1149G>A) c.721G>A (p.Val241Met) n.715G>A | |
| 12 | g.55957325T>A | CA385217717 | PMEL | c.978A>T (p.Gln326His) c.831A>T (p.Gln277His) c.816A>T (p.Gln272His) c.531A>T (p.Gln177His) c.640A>T n.18A>T c.358+1148A>T (n.358+1148A>T) c.720A>T (p.Gln240His) n.714A>T | |
| 12 | g.55957325T>C | CA480364968 | PMEL | c.978A>G (p.Gln326=) c.831A>G (p.Gln277=) c.816A>G (p.Gln272=) c.531A>G (p.Gln177=) c.640A>G n.18A>G c.358+1148A>G (n.358+1148A>G) c.720A>G (p.Gln240=) n.714A>G | |
| 12 | g.55957325T>G | CA385217718 | PMEL | c.978A>C (p.Gln326His) c.831A>C (p.Gln277His) c.816A>C (p.Gln272His) c.531A>C (p.Gln177His) c.640A>C n.18A>C c.358+1148A>C (n.358+1148A>C) c.720A>C (p.Gln240His) n.714A>C | |
| 12 | g.55957326T>A | CA385217720 | PMEL | c.977A>T (p.Gln326Leu) c.830A>T (p.Gln277Leu) c.815A>T (p.Gln272Leu) c.530A>T (p.Gln177Leu) c.639A>T n.17A>T c.358+1147A>T (n.358+1147A>T) c.719A>T (p.Gln240Leu) n.713A>T | |
| 12 | g.55957326T>C | CA237591035 | PMEL | c.977A>G (p.Gln326Arg) c.830A>G (p.Gln277Arg) c.815A>G (p.Gln272Arg) c.530A>G (p.Gln177Arg) c.639A>G n.17A>G c.358+1147A>G (n.358+1147A>G) c.719A>G (p.Gln240Arg) n.713A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957326T>G | CA385217722 | PMEL | c.977A>C (p.Gln326Pro) c.830A>C (p.Gln277Pro) c.815A>C (p.Gln272Pro) c.530A>C (p.Gln177Pro) c.639A>C n.17A>C c.358+1147A>C (n.358+1147A>C) c.719A>C (p.Gln240Pro) n.713A>C | |
| 12 | g.55957326T= | CA2038181506 | PMEL | c.977A= (p.Gln326=) c.830A= (p.Gln277=) c.815A= (p.Gln272=) c.530A= (p.Gln177=) c.639A= n.17A= c.358+1147A= (n.358+1147A=) c.719A= (p.Gln240=) n.713A= | |
| 12 | g.55957327G>A | CA385217724 | PMEL | c.976C>T (p.Gln326Ter) c.829C>T (p.Gln277Ter) c.814C>T (p.Gln272Ter) c.529C>T (p.Gln177Ter) c.638C>T n.16C>T c.358+1146C>T (n.358+1146C>T) c.718C>T (p.Gln240Ter) n.712C>T | |
| 12 | g.55957327G>C | CA385217726 | PMEL | c.976C>G (p.Gln326Glu) c.829C>G (p.Gln277Glu) c.814C>G (p.Gln272Glu) c.529C>G (p.Gln177Glu) c.638C>G n.16C>G c.358+1146C>G (n.358+1146C>G) c.718C>G (p.Gln240Glu) n.712C>G | |
| 12 | g.55957327G>T | CA385217727 | PMEL | c.976C>A (p.Gln326Lys) c.829C>A (p.Gln277Lys) c.814C>A (p.Gln272Lys) c.529C>A (p.Gln177Lys) c.638C>A n.16C>A c.358+1146C>A (n.358+1146C>A) c.718C>A (p.Gln240Lys) n.712C>A | |
| 12 | g.55957328G>A | CA480364972 | PMEL | c.975C>T (p.Gly325=) c.828C>T (p.Gly276=) c.813C>T (p.Gly271=) c.528C>T (p.Gly176=) c.637C>T n.15C>T c.358+1145C>T (n.358+1145C>T) c.717C>T (p.Gly239=) n.711C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957328G>C | CA480364973 | PMEL | c.975C>G (p.Gly325=) c.828C>G (p.Gly276=) c.813C>G (p.Gly271=) c.528C>G (p.Gly176=) c.637C>G n.15C>G c.358+1145C>G (n.358+1145C>G) c.717C>G (p.Gly239=) n.711C>G | dbSNP |
| 12 | g.55957328G= | CA2038181508 | PMEL | c.975C= (p.Gly325=) c.828C= (p.Gly276=) c.813C= (p.Gly271=) c.528C= (p.Gly176=) c.637C= n.15C= c.358+1145C= (n.358+1145C=) c.717C= (p.Gly239=) n.711C= | |
| 12 | g.55957328G>T | CA480364976 | PMEL | c.975C>A (p.Gly325=) c.828C>A (p.Gly276=) c.813C>A (p.Gly271=) c.528C>A (p.Gly176=) c.637C>A n.15C>A c.358+1145C>A (n.358+1145C>A) c.717C>A (p.Gly239=) n.711C>A | |
| 12 | g.55957329C>A | CA6620093 | PMEL | c.974G>T (p.Gly325Val) c.827G>T (p.Gly276Val) c.812G>T (p.Gly271Val) c.527G>T (p.Gly176Val) c.636G>T n.14G>T c.358+1144G>T (n.358+1144G>T) c.716G>T (p.Gly239Val) n.710G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957329C= | CA2038181512 | PMEL | c.974G= (p.Gly325=) c.827G= (p.Gly276=) c.812G= (p.Gly271=) c.527G= (p.Gly176=) c.636G= n.14G= c.358+1144G= (n.358+1144G=) c.716G= (p.Gly239=) n.710G= | |
| 12 | g.55957329C>G | CA385217729 | PMEL | c.974G>C (p.Gly325Ala) c.827G>C (p.Gly276Ala) c.812G>C (p.Gly271Ala) c.527G>C (p.Gly176Ala) c.636G>C n.14G>C c.358+1144G>C (n.358+1144G>C) c.716G>C (p.Gly239Ala) n.710G>C | |
| 12 | g.55957329C>T | CA385217730 | PMEL | c.974G>A (p.Gly325Asp) c.827G>A (p.Gly276Asp) c.812G>A (p.Gly271Asp) c.527G>A (p.Gly176Asp) c.636G>A n.14G>A c.358+1144G>A (n.358+1144G>A) c.716G>A (p.Gly239Asp) n.710G>A | |
| 12 | g.55957330C>A | CA385217736 | PMEL | c.973G>T (p.Gly325Cys) c.826G>T (p.Gly276Cys) c.811G>T (p.Gly271Cys) c.526G>T (p.Gly176Cys) c.635G>T n.13G>T c.358+1143G>T (n.358+1143G>T) c.715G>T (p.Gly239Cys) n.709G>T | |
| 12 | g.55957330C= | CA2038181516 | PMEL | c.973G= (p.Gly325=) c.826G= (p.Gly276=) c.811G= (p.Gly271=) c.526G= (p.Gly176=) c.635G= n.13G= c.358+1143G= (n.358+1143G=) c.715G= (p.Gly239=) n.709G= | |
| 12 | g.55957330C>G | CA385217734 | PMEL | c.973G>C (p.Gly325Arg) c.826G>C (p.Gly276Arg) c.811G>C (p.Gly271Arg) c.526G>C (p.Gly176Arg) c.635G>C n.13G>C c.358+1143G>C (n.358+1143G>C) c.715G>C (p.Gly239Arg) n.709G>C | |
| 12 | g.55957330C>T | CA385217732 | PMEL | c.973G>A (p.Gly325Ser) c.826G>A (p.Gly276Ser) c.811G>A (p.Gly271Ser) c.526G>A (p.Gly176Ser) c.635G>A n.13G>A c.358+1143G>A (n.358+1143G>A) c.715G>A (p.Gly239Ser) n.709G>A | dbSNP gnomAD v4 |
| 12 | g.55957331A= | CA2038181520 | PMEL | c.972T= (p.Ala324=) c.825T= (p.Ala275=) c.810T= (p.Ala270=) c.525T= (p.Ala175=) c.634T= n.12T= c.358+1142T= (n.358+1142T=) c.714T= (p.Ala238=) n.708T= | |
| 12 | g.55957331A>C | CA480364977 | PMEL | c.972T>G (p.Ala324=) c.825T>G (p.Ala275=) c.810T>G (p.Ala270=) c.525T>G (p.Ala175=) c.634T>G n.12T>G c.358+1142T>G (n.358+1142T>G) c.714T>G (p.Ala238=) n.708T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957331A>G | CA480364978 | PMEL | c.972T>C (p.Ala324=) c.825T>C (p.Ala275=) c.810T>C (p.Ala270=) c.525T>C (p.Ala175=) c.634T>C n.12T>C c.358+1142T>C (n.358+1142T>C) c.714T>C (p.Ala238=) n.708T>C | gnomAD v4 |
| 12 | g.55957331A>T | CA480364979 | PMEL | c.972T>A (p.Ala324=) c.825T>A (p.Ala275=) c.810T>A (p.Ala270=) c.525T>A (p.Ala175=) c.634T>A n.12T>A c.358+1142T>A (n.358+1142T>A) c.714T>A (p.Ala238=) n.708T>A | |
| 12 | g.55957332G>A | CA385217737 | PMEL | c.971C>T (p.Ala324Val) c.824C>T (p.Ala275Val) c.809C>T (p.Ala270Val) c.524C>T (p.Ala175Val) c.633C>T n.11C>T c.358+1141C>T (n.358+1141C>T) c.713C>T (p.Ala238Val) n.707C>T | |
| 12 | g.55957332G>C | CA385217738 | PMEL | c.971C>G (p.Ala324Gly) c.824C>G (p.Ala275Gly) c.809C>G (p.Ala270Gly) c.524C>G (p.Ala175Gly) c.633C>G n.11C>G c.358+1141C>G (n.358+1141C>G) c.713C>G (p.Ala238Gly) n.707C>G | |
| 12 | g.55957332G>T | CA385217740 | PMEL | c.971C>A (p.Ala324Asp) c.824C>A (p.Ala275Asp) c.809C>A (p.Ala270Asp) c.524C>A (p.Ala175Asp) c.633C>A n.11C>A c.358+1141C>A (n.358+1141C>A) c.713C>A (p.Ala238Asp) n.707C>A | gnomAD v4 |
| 12 | g.55957333C>A | CA385217742 | PMEL | c.970G>T (p.Ala324Ser) c.823G>T (p.Ala275Ser) c.808G>T (p.Ala270Ser) c.523G>T (p.Ala175Ser) c.632G>T n.10G>T c.358+1140G>T (n.358+1140G>T) c.712G>T (p.Ala238Ser) n.706G>T | |
| 12 | g.55957333C>G | CA385217744 | PMEL | c.970G>C (p.Ala324Pro) c.823G>C (p.Ala275Pro) c.808G>C (p.Ala270Pro) c.523G>C (p.Ala175Pro) c.632G>C n.10G>C c.358+1140G>C (n.358+1140G>C) c.712G>C (p.Ala238Pro) n.706G>C | |
| 12 | g.55957333C>T | CA385217745 | PMEL | c.970G>A (p.Ala324Thr) c.823G>A (p.Ala275Thr) c.808G>A (p.Ala270Thr) c.523G>A (p.Ala175Thr) c.632G>A n.10G>A c.358+1140G>A (n.358+1140G>A) c.712G>A (p.Ala238Thr) n.706G>A | |
| 12 | g.55957334T>A | CA480364981 | PMEL | c.969A>T (p.Thr323=) c.822A>T (p.Thr274=) c.807A>T (p.Thr269=) c.522A>T (p.Thr174=) c.631A>T n.9A>T c.358+1139A>T (n.358+1139A>T) c.711A>T (p.Thr237=) n.705A>T | |
| 12 | g.55957334T>C | CA480364982 | PMEL | c.969A>G (p.Thr323=) c.822A>G (p.Thr274=) c.807A>G (p.Thr269=) c.522A>G (p.Thr174=) c.631A>G n.9A>G c.358+1139A>G (n.358+1139A>G) c.711A>G (p.Thr237=) n.705A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957334T>G | CA480364984 | PMEL | c.969A>C (p.Thr323=) c.822A>C (p.Thr274=) c.807A>C (p.Thr269=) c.522A>C (p.Thr174=) c.631A>C n.9A>C c.358+1139A>C (n.358+1139A>C) c.711A>C (p.Thr237=) n.705A>C | |
| 12 | g.55957334T= | CA2038181523 | PMEL | c.969A= (p.Thr323=) c.822A= (p.Thr274=) c.807A= (p.Thr269=) c.522A= (p.Thr174=) c.631A= n.9A= c.358+1139A= (n.358+1139A=) c.711A= (p.Thr237=) n.705A= | |
| 12 | g.55957335G>A | CA6620094 | PMEL | c.968C>T (p.Thr323Ile) c.821C>T (p.Thr274Ile) c.806C>T (p.Thr269Ile) c.521C>T (p.Thr174Ile) c.630C>T n.8C>T c.358+1138C>T (n.358+1138C>T) c.710C>T (p.Thr237Ile) n.704C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957335G>C | CA385217748 | PMEL | c.968C>G (p.Thr323Arg) c.821C>G (p.Thr274Arg) c.806C>G (p.Thr269Arg) c.521C>G (p.Thr174Arg) c.630C>G n.8C>G c.358+1138C>G (n.358+1138C>G) c.710C>G (p.Thr237Arg) n.704C>G | |
| 12 | g.55957335G= | CA2038181526 | PMEL | c.968C= (p.Thr323=) c.821C= (p.Thr274=) c.806C= (p.Thr269=) c.521C= (p.Thr174=) c.630C= n.8C= c.358+1138C= (n.358+1138C=) c.710C= (p.Thr237=) n.704C= | |
| 12 | g.55957335G>T | CA385217750 | PMEL | c.968C>A (p.Thr323Lys) c.821C>A (p.Thr274Lys) c.806C>A (p.Thr269Lys) c.521C>A (p.Thr174Lys) c.630C>A n.8C>A c.358+1138C>A (n.358+1138C>A) c.710C>A (p.Thr237Lys) n.704C>A | |
| 12 | g.55957336T>A | CA385217752 | PMEL | c.967A>T (p.Thr323Ser) c.820A>T (p.Thr274Ser) c.805A>T (p.Thr269Ser) c.520A>T (p.Thr174Ser) c.629A>T n.7A>T c.358+1137A>T (n.358+1137A>T) c.709A>T (p.Thr237Ser) n.703A>T | |
| 12 | g.55957336T>C | CA385217754 | PMEL | c.967A>G (p.Thr323Ala) c.820A>G (p.Thr274Ala) c.805A>G (p.Thr269Ala) c.520A>G (p.Thr174Ala) c.629A>G n.7A>G c.358+1137A>G (n.358+1137A>G) c.709A>G (p.Thr237Ala) n.703A>G | |
| 12 | g.55957336T>G | CA385217755 | PMEL | c.967A>C (p.Thr323Pro) c.820A>C (p.Thr274Pro) c.805A>C (p.Thr269Pro) c.520A>C (p.Thr174Pro) c.629A>C n.7A>C c.358+1137A>C (n.358+1137A>C) c.709A>C (p.Thr237Pro) n.703A>C | |
| 12 | g.55957337G>A | CA6620095 | PMEL | c.966C>T (p.Thr322=) c.819C>T (p.Thr273=) c.804C>T (p.Thr268=) c.519C>T (p.Thr173=) c.628C>T n.6C>T c.358+1136C>T (n.358+1136C>T) c.708C>T (p.Thr236=) n.702C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957337G>C | CA480364987 | PMEL | c.966C>G (p.Thr322=) c.819C>G (p.Thr273=) c.804C>G (p.Thr268=) c.519C>G (p.Thr173=) c.628C>G n.6C>G c.358+1136C>G (n.358+1136C>G) c.708C>G (p.Thr236=) n.702C>G | |
| 12 | g.55957337G= | CA2038181527 | PMEL | c.966C= (p.Thr322=) c.819C= (p.Thr273=) c.804C= (p.Thr268=) c.519C= (p.Thr173=) c.628C= n.6C= c.358+1136C= (n.358+1136C=) c.708C= (p.Thr236=) n.702C= | |
| 12 | g.55957337G>T | CA480364988 | PMEL | c.966C>A (p.Thr322=) c.819C>A (p.Thr273=) c.804C>A (p.Thr268=) c.519C>A (p.Thr173=) c.628C>A n.6C>A c.358+1136C>A (n.358+1136C>A) c.708C>A (p.Thr236=) n.702C>A | |
| 12 | g.55957338G>A | CA385217761 | PMEL | c.965C>T (p.Thr322Ile) c.818C>T (p.Thr273Ile) c.803C>T (p.Thr268Ile) c.518C>T (p.Thr173Ile) c.627C>T n.5C>T c.358+1135C>T (n.358+1135C>T) c.707C>T (p.Thr236Ile) n.701C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957338G>C | CA385217757 | PMEL | c.965C>G (p.Thr322Ser) c.818C>G (p.Thr273Ser) c.803C>G (p.Thr268Ser) c.518C>G (p.Thr173Ser) c.627C>G n.5C>G c.358+1135C>G (n.358+1135C>G) c.707C>G (p.Thr236Ser) n.701C>G | |
| 12 | g.55957338G= | CA2038181530 | PMEL | c.965C= (p.Thr322=) c.818C= (p.Thr273=) c.803C= (p.Thr268=) c.518C= (p.Thr173=) c.627C= n.5C= c.358+1135C= (n.358+1135C=) c.707C= (p.Thr236=) n.701C= | |
| 12 | g.55957338G>T | CA385217759 | PMEL | c.965C>A (p.Thr322Asn) c.818C>A (p.Thr273Asn) c.803C>A (p.Thr268Asn) c.518C>A (p.Thr173Asn) c.627C>A n.5C>A c.358+1135C>A (n.358+1135C>A) c.707C>A (p.Thr236Asn) n.701C>A | |
| 12 | g.55957339T>A | CA385217762 | PMEL | c.964A>T (p.Thr322Ser) c.817A>T (p.Thr273Ser) c.802A>T (p.Thr268Ser) c.517A>T (p.Thr173Ser) c.626A>T n.4A>T c.358+1134A>T (n.358+1134A>T) c.706A>T (p.Thr236Ser) n.700A>T | |
| 12 | g.55957339T>C | CA385217764 | PMEL | c.964A>G (p.Thr322Ala) c.817A>G (p.Thr273Ala) c.802A>G (p.Thr268Ala) c.517A>G (p.Thr173Ala) c.626A>G n.4A>G c.358+1134A>G (n.358+1134A>G) c.706A>G (p.Thr236Ala) n.700A>G | |
| 12 | g.55957339T>G | CA385217765 | PMEL | c.964A>C (p.Thr322Pro) c.817A>C (p.Thr273Pro) c.802A>C (p.Thr268Pro) c.517A>C (p.Thr173Pro) c.626A>C n.4A>C c.358+1134A>C (n.358+1134A>C) c.706A>C (p.Thr236Pro) n.700A>C | |
| 12 | g.55957340G>A | CA480364991 | PMEL | c.963C>T (p.Asn321=) c.816C>T (p.Asn272=) c.801C>T (p.Asn267=) c.516C>T (p.Asn172=) c.625C>T n.3C>T c.358+1133C>T (n.358+1133C>T) c.705C>T (p.Asn235=) n.699C>T | gnomAD v4 |
| 12 | g.55957340G>C | CA385217767 | PMEL | c.963C>G (p.Asn321Lys) c.816C>G (p.Asn272Lys) c.801C>G (p.Asn267Lys) c.516C>G (p.Asn172Lys) c.625C>G n.3C>G c.358+1133C>G (n.358+1133C>G) c.705C>G (p.Asn235Lys) n.699C>G | |
| 12 | g.55957340G>T | CA385217769 | PMEL | c.963C>A (p.Asn321Lys) c.816C>A (p.Asn272Lys) c.801C>A (p.Asn267Lys) c.516C>A (p.Asn172Lys) c.625C>A n.3C>A c.358+1133C>A (n.358+1133C>A) c.705C>A (p.Asn235Lys) n.699C>A | |
| 12 | g.55957341T>A | CA385217770 | PMEL | c.962A>T (p.Asn321Ile) c.815A>T (p.Asn272Ile) c.800A>T (p.Asn267Ile) c.515A>T (p.Asn172Ile) c.624A>T n.2A>T c.358+1132A>T (n.358+1132A>T) c.704A>T (p.Asn235Ile) n.698A>T | |
| 12 | g.55957341T>C | CA385217772 | PMEL | c.962A>G (p.Asn321Ser) c.815A>G (p.Asn272Ser) c.800A>G (p.Asn267Ser) c.515A>G (p.Asn172Ser) c.624A>G n.2A>G c.358+1132A>G (n.358+1132A>G) c.704A>G (p.Asn235Ser) n.698A>G | |
| 12 | g.55957341T>G | CA385217773 | PMEL | c.962A>C (p.Asn321Thr) c.815A>C (p.Asn272Thr) c.800A>C (p.Asn267Thr) c.515A>C (p.Asn172Thr) c.624A>C n.2A>C c.358+1132A>C (n.358+1132A>C) c.704A>C (p.Asn235Thr) n.698A>C | |
| 12 | g.55957342T>A | CA385217776 | PMEL | c.961A>T (p.Asn321Tyr) c.814A>T (p.Asn272Tyr) c.799A>T (p.Asn267Tyr) c.514A>T (p.Asn172Tyr) c.623A>T n.1A>T c.358+1131A>T (n.358+1131A>T) c.703A>T (p.Asn235Tyr) n.697A>T | |
| 12 | g.55957342T>C | CA6620096 | PMEL | c.961A>G (p.Asn321Asp) c.814A>G (p.Asn272Asp) c.799A>G (p.Asn267Asp) c.514A>G (p.Asn172Asp) c.623A>G n.1A>G c.358+1131A>G (n.358+1131A>G) c.703A>G (p.Asn235Asp) n.697A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.55957342T>G | CA385217778 | PMEL | c.961A>C (p.Asn321His) c.814A>C (p.Asn272His) c.799A>C (p.Asn267His) c.514A>C (p.Asn172His) c.623A>C n.1A>C c.358+1131A>C (n.358+1131A>C) c.703A>C (p.Asn235His) n.697A>C | |
| 12 | g.55957342T= | CA2038181531 | PMEL | c.961A= (p.Asn321=) c.814A= (p.Asn272=) c.799A= (p.Asn267=) c.514A= (p.Asn172=) c.623A= n.1A= c.358+1131A= (n.358+1131A=) c.703A= (p.Asn235=) n.697A= | |
| 12 | g.55957343A>C | CA480364996 | PMEL | c.960T>G (p.Pro320=) c.813T>G (p.Pro271=) c.798T>G (p.Pro266=) c.513T>G (p.Pro171=) c.622T>G c.358+1130T>G (n.358+1130T>G) c.702T>G (p.Pro234=) n.696T>G | |
| 12 | g.55957343A>G | CA480364994 | PMEL | c.960T>C (p.Pro320=) c.813T>C (p.Pro271=) c.798T>C (p.Pro266=) c.513T>C (p.Pro171=) c.622T>C c.358+1130T>C (n.358+1130T>C) c.702T>C (p.Pro234=) n.696T>C | gnomAD v4 |
| 12 | g.55957343A>T | CA480364995 | PMEL | c.960T>A (p.Pro320=) c.813T>A (p.Pro271=) c.798T>A (p.Pro266=) c.513T>A (p.Pro171=) c.622T>A c.358+1130T>A (n.358+1130T>A) c.702T>A (p.Pro234=) n.696T>A | |
| 12 | g.55957344G>A | CA385217781 | PMEL | c.959C>T (p.Pro320Leu) c.812C>T (p.Pro271Leu) c.797C>T (p.Pro266Leu) c.512C>T (p.Pro171Leu) c.621C>T c.358+1129C>T (n.358+1129C>T) c.701C>T (p.Pro234Leu) n.695C>T | |
| 12 | g.55957344G>C | CA385217779 | PMEL | c.959C>G (p.Pro320Arg) c.812C>G (p.Pro271Arg) c.797C>G (p.Pro266Arg) c.512C>G (p.Pro171Arg) c.621C>G c.358+1129C>G (n.358+1129C>G) c.701C>G (p.Pro234Arg) n.695C>G | |
| 12 | g.55957344G= | CA2038181534 | PMEL | c.959C= (p.Pro320=) c.812C= (p.Pro271=) c.797C= (p.Pro266=) c.512C= (p.Pro171=) c.621C= c.358+1129C= (n.358+1129C=) c.701C= (p.Pro234=) n.695C= | |
| 12 | g.55957344G>T | CA6620097 | PMEL | c.959C>A (p.Pro320His) c.812C>A (p.Pro271His) c.797C>A (p.Pro266His) c.512C>A (p.Pro171His) c.621C>A c.358+1129C>A (n.358+1129C>A) c.701C>A (p.Pro234His) n.695C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957347del | CA2726241340 | PMEL | c.959del (p.Pro320LeufsTer?) c.812del (p.Pro271LeufsTer?) c.797del (p.Pro266LeufsTer?) c.512del (p.Pro171LeufsTer?) c.621del c.358+1129del (n.358+1129del) c.701del (p.Pro234LeufsTer?) n.695del | dbSNP |
| 12 | g.55957345G>A | CA385217783 | PMEL | c.958C>T (p.Pro320Ser) c.811C>T (p.Pro271Ser) c.796C>T (p.Pro266Ser) c.511C>T (p.Pro171Ser) c.620C>T c.358+1128C>T (n.358+1128C>T) c.700C>T (p.Pro234Ser) n.694C>T | |
| 12 | g.55957345G>C | CA385217784 | PMEL | c.958C>G (p.Pro320Ala) c.811C>G (p.Pro271Ala) c.796C>G (p.Pro266Ala) c.511C>G (p.Pro171Ala) c.620C>G c.358+1128C>G (n.358+1128C>G) c.700C>G (p.Pro234Ala) n.694C>G | |
| 12 | g.55957345G>T | CA385217785 | PMEL | c.958C>A (p.Pro320Thr) c.811C>A (p.Pro271Thr) c.796C>A (p.Pro266Thr) c.511C>A (p.Pro171Thr) c.620C>A c.358+1128C>A (n.358+1128C>A) c.700C>A (p.Pro234Thr) n.694C>A | gnomAD v4 |
| 12 | g.55957346G>A | CA480364998 | PMEL | c.957C>T (p.Ala319=) c.810C>T (p.Ala270=) c.795C>T (p.Ala265=) c.510C>T (p.Ala170=) c.619C>T c.358+1127C>T (n.358+1127C>T) c.699C>T (p.Ala233=) n.693C>T | |
| 12 | g.55957346G>C | CA480365000 | PMEL | c.957C>G (p.Ala319=) c.810C>G (p.Ala270=) c.795C>G (p.Ala265=) c.510C>G (p.Ala170=) c.619C>G c.358+1127C>G (n.358+1127C>G) c.699C>G (p.Ala233=) n.693C>G | |
| 12 | g.55957346G>T | CA480365002 | PMEL | c.957C>A (p.Ala319=) c.810C>A (p.Ala270=) c.795C>A (p.Ala265=) c.510C>A (p.Ala170=) c.619C>A c.358+1127C>A (n.358+1127C>A) c.699C>A (p.Ala233=) n.693C>A | |
| 12 | g.55957347G>A | CA385217786 | PMEL | c.956C>T (p.Ala319Val) c.809C>T (p.Ala270Val) c.794C>T (p.Ala265Val) c.509C>T (p.Ala170Val) c.618C>T c.358+1126C>T (n.358+1126C>T) c.698C>T (p.Ala233Val) n.692C>T | |
| 12 | g.55957347G>C | CA385217787 | PMEL | c.956C>G (p.Ala319Gly) c.809C>G (p.Ala270Gly) c.794C>G (p.Ala265Gly) c.509C>G (p.Ala170Gly) c.618C>G c.358+1126C>G (n.358+1126C>G) c.698C>G (p.Ala233Gly) n.692C>G | dbSNP |
| 12 | g.55957347G= | CA2038181539 | PMEL | c.956C= (p.Ala319=) c.809C= (p.Ala270=) c.794C= (p.Ala265=) c.509C= (p.Ala170=) c.618C= c.358+1126C= (n.358+1126C=) c.698C= (p.Ala233=) n.692C= | |
| 12 | g.55957347G>T | CA385217788 | PMEL | c.956C>A (p.Ala319Asp) c.809C>A (p.Ala270Asp) c.794C>A (p.Ala265Asp) c.509C>A (p.Ala170Asp) c.618C>A c.358+1126C>A (n.358+1126C>A) c.698C>A (p.Ala233Asp) n.692C>A | |
| 12 | g.55957348C>A | CA385217790 | PMEL | c.955G>T (p.Ala319Ser) c.808G>T (p.Ala270Ser) c.793G>T (p.Ala265Ser) c.508G>T (p.Ala170Ser) c.617G>T c.358+1125G>T (n.358+1125G>T) c.697G>T (p.Ala233Ser) n.691G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957348C= | CA2038181545 | PMEL | c.955G= (p.Ala319=) c.808G= (p.Ala270=) c.793G= (p.Ala265=) c.508G= (p.Ala170=) c.617G= c.358+1125G= (n.358+1125G=) c.697G= (p.Ala233=) n.691G= | |
| 12 | g.55957348C>G | CA385217792 | PMEL | c.955G>C (p.Ala319Pro) c.808G>C (p.Ala270Pro) c.793G>C (p.Ala265Pro) c.508G>C (p.Ala170Pro) c.617G>C c.358+1125G>C (n.358+1125G>C) c.697G>C (p.Ala233Pro) n.691G>C | |
| 12 | g.55957348C>T | CA385217793 | PMEL | c.955G>A (p.Ala319Thr) c.808G>A (p.Ala270Thr) c.793G>A (p.Ala265Thr) c.508G>A (p.Ala170Thr) c.617G>A c.358+1125G>A (n.358+1125G>A) c.697G>A (p.Ala233Thr) n.691G>A | |
| 12 | g.55957349C>A | CA385217794 | PMEL | c.954G>T (p.Glu318Asp) c.807G>T (p.Glu269Asp) c.792G>T (p.Glu264Asp) c.507G>T (p.Glu169Asp) c.616G>T c.358+1124G>T (n.358+1124G>T) c.696G>T (p.Glu232Asp) n.690G>T | |
| 12 | g.55957349C= | CA2038181564 | PMEL | c.954G= (p.Glu318=) c.807G= (p.Glu269=) c.792G= (p.Glu264=) c.507G= (p.Glu169=) c.616G= c.358+1124G= (n.358+1124G=) c.696G= (p.Glu232=) n.690G= | |
| 12 | g.55957349C>G | CA385217796 | PMEL | c.954G>C (p.Glu318Asp) c.807G>C (p.Glu269Asp) c.792G>C (p.Glu264Asp) c.507G>C (p.Glu169Asp) c.616G>C c.358+1124G>C (n.358+1124G>C) c.696G>C (p.Glu232Asp) n.690G>C | |
| 12 | g.55957349C>T | CA480365009 | PMEL | c.954G>A (p.Glu318=) c.807G>A (p.Glu269=) c.792G>A (p.Glu264=) c.507G>A (p.Glu169=) c.616G>A c.358+1124G>A (n.358+1124G>A) c.696G>A (p.Glu232=) n.690G>A | dbSNP |
| 12 | g.55957350T>A | CA385217801 | PMEL | c.953A>T (p.Glu318Val) c.806A>T (p.Glu269Val) c.791A>T (p.Glu264Val) c.506A>T (p.Glu169Val) c.615A>T c.358+1123A>T (n.358+1123A>T) c.695A>T (p.Glu232Val) n.689A>T | |
| 12 | g.55957350T>C | CA385217800 | PMEL | c.953A>G (p.Glu318Gly) c.806A>G (p.Glu269Gly) c.791A>G (p.Glu264Gly) c.506A>G (p.Glu169Gly) c.615A>G c.358+1123A>G (n.358+1123A>G) c.695A>G (p.Glu232Gly) n.689A>G | |
| 12 | g.55957350T>G | CA385217798 | PMEL | c.953A>C (p.Glu318Ala) c.806A>C (p.Glu269Ala) c.791A>C (p.Glu264Ala) c.506A>C (p.Glu169Ala) c.615A>C c.358+1123A>C (n.358+1123A>C) c.695A>C (p.Glu232Ala) n.689A>C | |
| 12 | g.55957351C>A | CA385217802 | PMEL | c.952G>T (p.Glu318Ter) c.805G>T (p.Glu269Ter) c.790G>T (p.Glu264Ter) c.505G>T (p.Glu169Ter) c.614G>T c.358+1122G>T (n.358+1122G>T) c.694G>T (p.Glu232Ter) n.688G>T | |
| 12 | g.55957351C>G | CA385217804 | PMEL | c.952G>C (p.Glu318Gln) c.805G>C (p.Glu269Gln) c.790G>C (p.Glu264Gln) c.505G>C (p.Glu169Gln) c.614G>C c.358+1122G>C (n.358+1122G>C) c.694G>C (p.Glu232Gln) n.688G>C | |
| 12 | g.55957351C>T | CA385217803 | PMEL | c.952G>A (p.Glu318Lys) c.805G>A (p.Glu269Lys) c.790G>A (p.Glu264Lys) c.505G>A (p.Glu169Lys) c.614G>A c.358+1122G>A (n.358+1122G>A) c.694G>A (p.Glu232Lys) n.688G>A | gnomAD v4 |
| 12 | g.55957352T>A | CA480365015 | PMEL | c.951A>T (p.Ala317=) c.804A>T (p.Ala268=) c.789A>T (p.Ala263=) c.504A>T (p.Ala168=) c.613A>T c.358+1121A>T (n.358+1121A>T) c.693A>T (p.Ala231=) n.687A>T | |
| 12 | g.55957352T>C | CA480365016 | PMEL | c.951A>G (p.Ala317=) c.804A>G (p.Ala268=) c.789A>G (p.Ala263=) c.504A>G (p.Ala168=) c.613A>G c.358+1121A>G (n.358+1121A>G) c.693A>G (p.Ala231=) n.687A>G | |
| 12 | g.55957352T>G | CA480365017 | PMEL | c.951A>C (p.Ala317=) c.804A>C (p.Ala268=) c.789A>C (p.Ala263=) c.504A>C (p.Ala168=) c.613A>C c.358+1121A>C (n.358+1121A>C) c.693A>C (p.Ala231=) n.687A>C | |
| 12 | g.55957353G>A | CA385217805 | PMEL | c.950C>T (p.Ala317Val) c.803C>T (p.Ala268Val) c.788C>T (p.Ala263Val) c.503C>T (p.Ala168Val) c.612C>T c.358+1120C>T (n.358+1120C>T) c.692C>T (p.Ala231Val) n.686C>T | |
| 12 | g.55957353G>C | CA385217808 | PMEL | c.950C>G (p.Ala317Gly) c.803C>G (p.Ala268Gly) c.788C>G (p.Ala263Gly) c.503C>G (p.Ala168Gly) c.612C>G c.358+1120C>G (n.358+1120C>G) c.692C>G (p.Ala231Gly) n.686C>G | gnomAD v4 |
| 12 | g.55957353G>T | CA385217807 | PMEL | c.950C>A (p.Ala317Glu) c.803C>A (p.Ala268Glu) c.788C>A (p.Ala263Glu) c.503C>A (p.Ala168Glu) c.612C>A c.358+1120C>A (n.358+1120C>A) c.692C>A (p.Ala231Glu) n.686C>A | gnomAD v4 |
| 12 | g.55957354_55957377del | CA2619241135 | PMEL | c.927_950del (p.Thr310_Ala317del) c.780_803del (p.Thr261_Ala268del) c.765_788del (p.Thr256_Ala263del) c.480_503del (p.Thr161_Ala168del) c.589_612del c.358+1097_358+1120del (n.358+1097_358+1120del) c.669_692del (p.Thr224_Ala231del) n.663_686del | gnomAD v4 |
| 12 | g.55957354C>A | CA385217809 | PMEL | c.949G>T (p.Ala317Ser) c.802G>T (p.Ala268Ser) c.787G>T (p.Ala263Ser) c.502G>T (p.Ala168Ser) c.611G>T c.358+1119G>T (n.358+1119G>T) c.691G>T (p.Ala231Ser) n.685G>T | |
| 12 | g.55957354C>G | CA385217810 | PMEL | c.949G>C (p.Ala317Pro) c.802G>C (p.Ala268Pro) c.787G>C (p.Ala263Pro) c.502G>C (p.Ala168Pro) c.611G>C c.358+1119G>C (n.358+1119G>C) c.691G>C (p.Ala231Pro) n.685G>C | |
| 12 | g.55957354C>T | CA385217811 | PMEL | c.949G>A (p.Ala317Thr) c.802G>A (p.Ala268Thr) c.787G>A (p.Ala263Thr) c.502G>A (p.Ala168Thr) c.611G>A c.358+1119G>A (n.358+1119G>A) c.691G>A (p.Ala231Thr) n.685G>A | gnomAD v4 |
| 12 | g.55957355A>C | CA480365018 | PMEL | c.948T>G (p.Thr316=) c.801T>G (p.Thr267=) c.786T>G (p.Thr262=) c.501T>G (p.Thr167=) c.610T>G c.358+1118T>G (n.358+1118T>G) c.690T>G (p.Thr230=) n.684T>G | |
| 12 | g.55957355A>G | CA480365019 | PMEL | c.948T>C (p.Thr316=) c.801T>C (p.Thr267=) c.786T>C (p.Thr262=) c.501T>C (p.Thr167=) c.610T>C c.358+1118T>C (n.358+1118T>C) c.690T>C (p.Thr230=) n.684T>C | |
| 12 | g.55957355A>T | CA480365020 | PMEL | c.948T>A (p.Thr316=) c.801T>A (p.Thr267=) c.786T>A (p.Thr262=) c.501T>A (p.Thr167=) c.610T>A c.358+1118T>A (n.358+1118T>A) c.690T>A (p.Thr230=) n.684T>A | |
| 12 | g.55957356G>A | CA385217812 | PMEL | c.947C>T (p.Thr316Ile) c.800C>T (p.Thr267Ile) c.785C>T (p.Thr262Ile) c.500C>T (p.Thr167Ile) c.609C>T c.358+1117C>T (n.358+1117C>T) c.689C>T (p.Thr230Ile) n.683C>T | |
| 12 | g.55957356G>C | CA385217814 | PMEL | c.947C>G (p.Thr316Ser) c.800C>G (p.Thr267Ser) c.785C>G (p.Thr262Ser) c.500C>G (p.Thr167Ser) c.609C>G c.358+1117C>G (n.358+1117C>G) c.689C>G (p.Thr230Ser) n.683C>G | |
| 12 | g.55957356G>T | CA385217816 | PMEL | c.947C>A (p.Thr316Asn) c.800C>A (p.Thr267Asn) c.785C>A (p.Thr262Asn) c.500C>A (p.Thr167Asn) c.609C>A c.358+1117C>A (n.358+1117C>A) c.689C>A (p.Thr230Asn) n.683C>A | |
| 12 | g.55957357T>A | CA385217817 | PMEL | c.946A>T (p.Thr316Ser) c.799A>T (p.Thr267Ser) c.784A>T (p.Thr262Ser) c.499A>T (p.Thr167Ser) c.608A>T c.358+1116A>T (n.358+1116A>T) c.688A>T (p.Thr230Ser) n.682A>T | |
| 12 | g.55957357T>C | CA385217818 | PMEL | c.946A>G (p.Thr316Ala) c.799A>G (p.Thr267Ala) c.784A>G (p.Thr262Ala) c.499A>G (p.Thr167Ala) c.608A>G c.358+1116A>G (n.358+1116A>G) c.688A>G (p.Thr230Ala) n.682A>G | |
| 12 | g.55957357T>G | CA385217820 | PMEL | c.946A>C (p.Thr316Pro) c.799A>C (p.Thr267Pro) c.784A>C (p.Thr262Pro) c.499A>C (p.Thr167Pro) c.608A>C c.358+1116A>C (n.358+1116A>C) c.688A>C (p.Thr230Pro) n.682A>C | |
| 12 | g.55957358T>A | CA480365023 | PMEL | c.945A>T (p.Pro315=) c.798A>T (p.Pro266=) c.783A>T (p.Pro261=) c.498A>T (p.Pro166=) c.607A>T c.358+1115A>T (n.358+1115A>T) c.687A>T (p.Pro229=) n.681A>T | |
| 12 | g.55957358T>C | CA480365025 | PMEL | c.945A>G (p.Pro315=) c.798A>G (p.Pro266=) c.783A>G (p.Pro261=) c.498A>G (p.Pro166=) c.607A>G c.358+1115A>G (n.358+1115A>G) c.687A>G (p.Pro229=) n.681A>G | |
| 12 | g.55957358T>G | CA480365026 | PMEL | c.945A>C (p.Pro315=) c.798A>C (p.Pro266=) c.783A>C (p.Pro261=) c.498A>C (p.Pro166=) c.607A>C c.358+1115A>C (n.358+1115A>C) c.687A>C (p.Pro229=) n.681A>C | |
| 12 | g.55957359G>A | CA385217822 | PMEL | c.944C>T (p.Pro315Leu) c.797C>T (p.Pro266Leu) c.782C>T (p.Pro261Leu) c.497C>T (p.Pro166Leu) c.606C>T c.358+1114C>T (n.358+1114C>T) c.686C>T (p.Pro229Leu) n.680C>T | |
| 12 | g.55957359G>C | CA385217824 | PMEL | c.944C>G (p.Pro315Arg) c.797C>G (p.Pro266Arg) c.782C>G (p.Pro261Arg) c.497C>G (p.Pro166Arg) c.606C>G c.358+1114C>G (n.358+1114C>G) c.686C>G (p.Pro229Arg) n.680C>G | |
| 12 | g.55957359G>T | CA385217825 | PMEL | c.944C>A (p.Pro315Gln) c.797C>A (p.Pro266Gln) c.782C>A (p.Pro261Gln) c.497C>A (p.Pro166Gln) c.606C>A c.358+1114C>A (n.358+1114C>A) c.686C>A (p.Pro229Gln) n.680C>A | |
| 12 | g.55957360G>A | CA385217830 | PMEL | c.943C>T (p.Pro315Ser) c.796C>T (p.Pro266Ser) c.781C>T (p.Pro261Ser) c.496C>T (p.Pro166Ser) c.605C>T c.358+1113C>T (n.358+1113C>T) c.685C>T (p.Pro229Ser) n.679C>T | gnomAD v4 |
| 12 | g.55957360G>C | CA385217827 | PMEL | c.943C>G (p.Pro315Ala) c.796C>G (p.Pro266Ala) c.781C>G (p.Pro261Ala) c.496C>G (p.Pro166Ala) c.605C>G c.358+1113C>G (n.358+1113C>G) c.685C>G (p.Pro229Ala) n.679C>G | gnomAD v4 |
| 12 | g.55957360G= | CA2038181567 | PMEL | c.943C= (p.Pro315=) c.796C= (p.Pro266=) c.781C= (p.Pro261=) c.496C= (p.Pro166=) c.605C= c.358+1113C= (n.358+1113C=) c.685C= (p.Pro229=) n.679C= | |
| 12 | g.55957360G>T | CA385217828 | PMEL | c.943C>A (p.Pro315Thr) c.796C>A (p.Pro266Thr) c.781C>A (p.Pro261Thr) c.496C>A (p.Pro166Thr) c.605C>A c.358+1113C>A (n.358+1113C>A) c.685C>A (p.Pro229Thr) n.679C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957361C>A | CA385217831 | PMEL | c.942G>T (p.Arg314Ser) c.795G>T (p.Arg265Ser) c.780G>T (p.Arg260Ser) c.495G>T (p.Arg165Ser) c.604G>T c.358+1112G>T (n.358+1112G>T) c.684G>T (p.Arg228Ser) n.678G>T | gnomAD v4 |
| 12 | g.55957361C>G | CA385217832 | PMEL | c.942G>C (p.Arg314Ser) c.795G>C (p.Arg265Ser) c.780G>C (p.Arg260Ser) c.495G>C (p.Arg165Ser) c.604G>C c.358+1112G>C (n.358+1112G>C) c.684G>C (p.Arg228Ser) n.678G>C | |
| 12 | g.55957361C>T | CA480365033 | PMEL | c.942G>A (p.Arg314=) c.795G>A (p.Arg265=) c.780G>A (p.Arg260=) c.495G>A (p.Arg165=) c.604G>A c.358+1112G>A (n.358+1112G>A) c.684G>A (p.Arg228=) n.678G>A | gnomAD v4 |
| 12 | g.55957362C>A | CA385217834 | PMEL | c.941G>T (p.Arg314Met) c.794G>T (p.Arg265Met) c.779G>T (p.Arg260Met) c.494G>T (p.Arg165Met) c.603G>T c.358+1111G>T (n.358+1111G>T) c.683G>T (p.Arg228Met) n.677G>T | |
| 12 | g.55957362C>G | CA385217835 | PMEL | c.941G>C (p.Arg314Thr) c.794G>C (p.Arg265Thr) c.779G>C (p.Arg260Thr) c.494G>C (p.Arg165Thr) c.603G>C c.358+1111G>C (n.358+1111G>C) c.683G>C (p.Arg228Thr) n.677G>C | |
| 12 | g.55957362C>T | CA385217837 | PMEL | c.941G>A (p.Arg314Lys) c.794G>A (p.Arg265Lys) c.779G>A (p.Arg260Lys) c.494G>A (p.Arg165Lys) c.603G>A c.358+1111G>A (n.358+1111G>A) c.683G>A (p.Arg228Lys) n.677G>A | |
| 12 | g.55957363T>A | CA385217839 | PMEL | c.940A>T (p.Arg314Trp) c.793A>T (p.Arg265Trp) c.778A>T (p.Arg260Trp) c.493A>T (p.Arg165Trp) c.602A>T c.358+1110A>T (n.358+1110A>T) c.682A>T (p.Arg228Trp) n.676A>T | |
| 12 | g.55957363T>C | CA385217840 | PMEL | c.940A>G (p.Arg314Gly) c.793A>G (p.Arg265Gly) c.778A>G (p.Arg260Gly) c.493A>G (p.Arg165Gly) c.602A>G c.358+1110A>G (n.358+1110A>G) c.682A>G (p.Arg228Gly) n.676A>G | |
| 12 | g.55957363T>G | CA480365035 | PMEL | c.940A>C (p.Arg314=) c.793A>C (p.Arg265=) c.778A>C (p.Arg260=) c.493A>C (p.Arg165=) c.602A>C c.358+1110A>C (n.358+1110A>C) c.682A>C (p.Arg228=) n.676A>C | |
| 12 | g.55957364G>A | CA6620098 | PMEL | c.939C>T (p.His313=) c.792C>T (p.His264=) c.777C>T (p.His259=) c.492C>T (p.His164=) c.601C>T c.358+1109C>T (n.358+1109C>T) c.681C>T (p.His227=) n.675C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957364G>C | CA385217843 | PMEL | c.939C>G (p.His313Gln) c.792C>G (p.His264Gln) c.777C>G (p.His259Gln) c.492C>G (p.His164Gln) c.601C>G c.358+1109C>G (n.358+1109C>G) c.681C>G (p.His227Gln) n.675C>G | gnomAD v4 |
| 12 | g.55957364G= | CA2038181568 | PMEL | c.939C= (p.His313=) c.792C= (p.His264=) c.777C= (p.His259=) c.492C= (p.His164=) c.601C= c.358+1109C= (n.358+1109C=) c.681C= (p.His227=) n.675C= | |
| 12 | g.55957364G>T | CA237591039 | PMEL | c.939C>A (p.His313Gln) c.792C>A (p.His264Gln) c.777C>A (p.His259Gln) c.492C>A (p.His164Gln) c.601C>A c.358+1109C>A (n.358+1109C>A) c.681C>A (p.His227Gln) n.675C>A | dbSNP gnomAD v4 |
| 12 | g.55957365T>A | CA385217849 | PMEL | c.938A>T (p.His313Leu) c.791A>T (p.His264Leu) c.776A>T (p.His259Leu) c.491A>T (p.His164Leu) c.600A>T c.358+1108A>T (n.358+1108A>T) c.680A>T (p.His227Leu) n.674A>T | |
| 12 | g.55957365T>C | CA385217847 | PMEL | c.938A>G (p.His313Arg) c.791A>G (p.His264Arg) c.776A>G (p.His259Arg) c.491A>G (p.His164Arg) c.600A>G c.358+1108A>G (n.358+1108A>G) c.680A>G (p.His227Arg) n.674A>G | |
| 12 | g.55957365T>G | CA385217846 | PMEL | c.938A>C (p.His313Pro) c.791A>C (p.His264Pro) c.776A>C (p.His259Pro) c.491A>C (p.His164Pro) c.600A>C c.358+1108A>C (n.358+1108A>C) c.680A>C (p.His227Pro) n.674A>C | |
| 12 | g.55957366G>A | CA385217850 | PMEL | c.937C>T (p.His313Tyr) c.790C>T (p.His264Tyr) c.775C>T (p.His259Tyr) c.490C>T (p.His164Tyr) c.599C>T c.358+1107C>T (n.358+1107C>T) c.679C>T (p.His227Tyr) n.673C>T | |
| 12 | g.55957366G>C | CA385217851 | PMEL | c.937C>G (p.His313Asp) c.790C>G (p.His264Asp) c.775C>G (p.His259Asp) c.490C>G (p.His164Asp) c.599C>G c.358+1107C>G (n.358+1107C>G) c.679C>G (p.His227Asp) n.673C>G | |
| 12 | g.55957366G>T | CA385217853 | PMEL | c.937C>A (p.His313Asn) c.790C>A (p.His264Asn) c.775C>A (p.His259Asn) c.490C>A (p.His164Asn) c.599C>A c.358+1107C>A (n.358+1107C>A) c.679C>A (p.His227Asn) n.673C>A | |
| 12 | g.55957367C>A | CA480365040 | PMEL | c.936G>T (p.Gly312=) c.789G>T (p.Gly263=) c.774G>T (p.Gly258=) c.489G>T (p.Gly163=) c.598G>T c.358+1106G>T (n.358+1106G>T) c.678G>T (p.Gly226=) n.672G>T | |
| 12 | g.55957367C>G | CA480365042 | PMEL | c.936G>C (p.Gly312=) c.789G>C (p.Gly263=) c.774G>C (p.Gly258=) c.489G>C (p.Gly163=) c.598G>C c.358+1106G>C (n.358+1106G>C) c.678G>C (p.Gly226=) n.672G>C | |
| 12 | g.55957367C>T | CA480365044 | PMEL | c.936G>A (p.Gly312=) c.789G>A (p.Gly263=) c.774G>A (p.Gly258=) c.489G>A (p.Gly163=) c.598G>A c.358+1106G>A (n.358+1106G>A) c.678G>A (p.Gly226=) n.672G>A | |
| 12 | g.55957368C>A | CA385217855 | PMEL | c.935G>T (p.Gly312Val) c.788G>T (p.Gly263Val) c.773G>T (p.Gly258Val) c.488G>T (p.Gly163Val) c.597G>T c.358+1105G>T (n.358+1105G>T) c.677G>T (p.Gly226Val) n.671G>T | |
| 12 | g.55957368C>G | CA385217856 | PMEL | c.935G>C (p.Gly312Ala) c.788G>C (p.Gly263Ala) c.773G>C (p.Gly258Ala) c.488G>C (p.Gly163Ala) c.597G>C c.358+1105G>C (n.358+1105G>C) c.677G>C (p.Gly226Ala) n.671G>C | |
| 12 | g.55957368C>T | CA385217857 | PMEL | c.935G>A (p.Gly312Glu) c.788G>A (p.Gly263Glu) c.773G>A (p.Gly258Glu) c.488G>A (p.Gly163Glu) c.597G>A c.358+1105G>A (n.358+1105G>A) c.677G>A (p.Gly226Glu) n.671G>A | |
| 12 | g.55957369C>A | CA385217862 | PMEL | c.934G>T (p.Gly312Trp) c.787G>T (p.Gly263Trp) c.772G>T (p.Gly258Trp) c.487G>T (p.Gly163Trp) c.596G>T c.358+1104G>T (n.358+1104G>T) c.676G>T (p.Gly226Trp) n.670G>T | |
| 12 | g.55957369C>G | CA385217859 | PMEL | c.934G>C (p.Gly312Arg) c.787G>C (p.Gly263Arg) c.772G>C (p.Gly258Arg) c.487G>C (p.Gly163Arg) c.596G>C c.358+1104G>C (n.358+1104G>C) c.676G>C (p.Gly226Arg) n.670G>C | |
| 12 | g.55957369C>T | CA385217861 | PMEL | c.934G>A (p.Gly312Arg) c.787G>A (p.Gly263Arg) c.772G>A (p.Gly258Arg) c.487G>A (p.Gly163Arg) c.596G>A c.358+1104G>A (n.358+1104G>A) c.676G>A (p.Gly226Arg) n.670G>A | |
| 12 | g.55957370A>C | CA385217864 | PMEL | c.933T>G (p.Asp311Glu) c.786T>G (p.Asp262Glu) c.771T>G (p.Asp257Glu) c.486T>G (p.Asp162Glu) c.595T>G c.358+1103T>G (n.358+1103T>G) c.675T>G (p.Asp225Glu) n.669T>G | |
| 12 | g.55957370A>G | CA480365047 | PMEL | c.933T>C (p.Asp311=) c.786T>C (p.Asp262=) c.771T>C (p.Asp257=) c.486T>C (p.Asp162=) c.595T>C c.358+1103T>C (n.358+1103T>C) c.675T>C (p.Asp225=) n.669T>C | |
| 12 | g.55957370A>T | CA385217865 | PMEL | c.933T>A (p.Asp311Glu) c.786T>A (p.Asp262Glu) c.771T>A (p.Asp257Glu) c.486T>A (p.Asp162Glu) c.595T>A c.358+1103T>A (n.358+1103T>A) c.675T>A (p.Asp225Glu) n.669T>A | |
| 12 | g.55957371T>A | CA385217867 | PMEL | c.932A>T (p.Asp311Val) c.785A>T (p.Asp262Val) c.770A>T (p.Asp257Val) c.485A>T (p.Asp162Val) c.594A>T c.358+1102A>T (n.358+1102A>T) c.674A>T (p.Asp225Val) n.668A>T | |
| 12 | g.55957371T>C | CA385217869 | PMEL | c.932A>G (p.Asp311Gly) c.785A>G (p.Asp262Gly) c.770A>G (p.Asp257Gly) c.485A>G (p.Asp162Gly) c.594A>G c.358+1102A>G (n.358+1102A>G) c.674A>G (p.Asp225Gly) n.668A>G | |
| 12 | g.55957371T>G | CA385217870 | PMEL | c.932A>C (p.Asp311Ala) c.785A>C (p.Asp262Ala) c.770A>C (p.Asp257Ala) c.485A>C (p.Asp162Ala) c.594A>C c.358+1102A>C (n.358+1102A>C) c.674A>C (p.Asp225Ala) n.668A>C | |
| 12 | g.55957372C>A | CA385217871 | PMEL | c.931G>T (p.Asp311Tyr) c.784G>T (p.Asp262Tyr) c.769G>T (p.Asp257Tyr) c.484G>T (p.Asp162Tyr) c.593G>T c.358+1101G>T (n.358+1101G>T) c.673G>T (p.Asp225Tyr) n.667G>T | gnomAD v4 |
| 12 | g.55957372C>G | CA385217873 | PMEL | c.931G>C (p.Asp311His) c.784G>C (p.Asp262His) c.769G>C (p.Asp257His) c.484G>C (p.Asp162His) c.593G>C c.358+1101G>C (n.358+1101G>C) c.673G>C (p.Asp225His) n.667G>C | |
| 12 | g.55957372C>T | CA385217872 | PMEL | c.931G>A (p.Asp311Asn) c.784G>A (p.Asp262Asn) c.769G>A (p.Asp257Asn) c.484G>A (p.Asp162Asn) c.593G>A c.358+1101G>A (n.358+1101G>A) c.673G>A (p.Asp225Asn) n.667G>A | |
| 12 | g.55957373T>A | CA480365055 | PMEL | c.930A>T (p.Thr310=) c.783A>T (p.Thr261=) c.768A>T (p.Thr256=) c.483A>T (p.Thr161=) c.592A>T c.358+1100A>T (n.358+1100A>T) c.672A>T (p.Thr224=) n.666A>T | |
| 12 | g.55957373T>C | CA480365052 | PMEL | c.930A>G (p.Thr310=) c.783A>G (p.Thr261=) c.768A>G (p.Thr256=) c.483A>G (p.Thr161=) c.592A>G c.358+1100A>G (n.358+1100A>G) c.672A>G (p.Thr224=) n.666A>G | |
| 12 | g.55957373T>G | CA237591040 | PMEL | c.930A>C (p.Thr310=) c.783A>C (p.Thr261=) c.768A>C (p.Thr256=) c.483A>C (p.Thr161=) c.592A>C c.358+1100A>C (n.358+1100A>C) c.672A>C (p.Thr224=) n.666A>C | dbSNP |
| 12 | g.55957373T= | CA2038181571 | PMEL | c.930A= (p.Thr310=) c.783A= (p.Thr261=) c.768A= (p.Thr256=) c.483A= (p.Thr161=) c.592A= c.358+1100A= (n.358+1100A=) c.672A= (p.Thr224=) n.666A= | |
| 12 | g.55957374G>A | CA385217874 | PMEL | c.929C>T (p.Thr310Ile) c.782C>T (p.Thr261Ile) c.767C>T (p.Thr256Ile) c.482C>T (p.Thr161Ile) c.591C>T c.358+1099C>T (n.358+1099C>T) c.671C>T (p.Thr224Ile) n.665C>T | dbSNP |
| 12 | g.55957374G>C | CA385217875 | PMEL | c.929C>G (p.Thr310Arg) c.782C>G (p.Thr261Arg) c.767C>G (p.Thr256Arg) c.482C>G (p.Thr161Arg) c.591C>G c.358+1099C>G (n.358+1099C>G) c.671C>G (p.Thr224Arg) n.665C>G | |
| 12 | g.55957374G= | CA2038181576 | PMEL | c.929C= (p.Thr310=) c.782C= (p.Thr261=) c.767C= (p.Thr256=) c.482C= (p.Thr161=) c.591C= c.358+1099C= (n.358+1099C=) c.671C= (p.Thr224=) n.665C= | |
| 12 | g.55957374G>T | CA385217877 | PMEL | c.929C>A (p.Thr310Lys) c.782C>A (p.Thr261Lys) c.767C>A (p.Thr256Lys) c.482C>A (p.Thr161Lys) c.591C>A c.358+1099C>A (n.358+1099C>A) c.671C>A (p.Thr224Lys) n.665C>A | |
| 12 | g.55957375T>A | CA385217879 | PMEL | c.928A>T (p.Thr310Ser) c.781A>T (p.Thr261Ser) c.766A>T (p.Thr256Ser) c.481A>T (p.Thr161Ser) c.590A>T c.358+1098A>T (n.358+1098A>T) c.670A>T (p.Thr224Ser) n.664A>T | |
| 12 | g.55957375T>C | CA385217880 | PMEL | c.928A>G (p.Thr310Ala) c.781A>G (p.Thr261Ala) c.766A>G (p.Thr256Ala) c.481A>G (p.Thr161Ala) c.590A>G c.358+1098A>G (n.358+1098A>G) c.670A>G (p.Thr224Ala) n.664A>G | |
| 12 | g.55957375T>G | CA385217882 | PMEL | c.928A>C (p.Thr310Pro) c.781A>C (p.Thr261Pro) c.766A>C (p.Thr256Pro) c.481A>C (p.Thr161Pro) c.590A>C c.358+1098A>C (n.358+1098A>C) c.670A>C (p.Thr224Pro) n.664A>C | |
| 12 | g.55957376G>A | CA480365059 | PMEL | c.927C>T (p.Thr309=) c.780C>T (p.Thr260=) c.765C>T (p.Thr255=) c.480C>T (p.Thr160=) c.589C>T c.358+1097C>T (n.358+1097C>T) c.669C>T (p.Thr223=) n.663C>T | |
| 12 | g.55957376G>C | CA480365061 | PMEL | c.927C>G (p.Thr309=) c.780C>G (p.Thr260=) c.765C>G (p.Thr255=) c.480C>G (p.Thr160=) c.589C>G c.358+1097C>G (n.358+1097C>G) c.669C>G (p.Thr223=) n.663C>G | |
| 12 | g.55957376G>T | CA480365060 | PMEL | c.927C>A (p.Thr309=) c.780C>A (p.Thr260=) c.765C>A (p.Thr255=) c.480C>A (p.Thr160=) c.589C>A c.358+1097C>A (n.358+1097C>A) c.669C>A (p.Thr223=) n.663C>A | |
| 12 | g.55957377G>A | CA385217884 | PMEL | c.926C>T (p.Thr309Ile) c.779C>T (p.Thr260Ile) c.764C>T (p.Thr255Ile) c.479C>T (p.Thr160Ile) c.588C>T c.358+1096C>T (n.358+1096C>T) c.668C>T (p.Thr223Ile) n.662C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957377G>C | CA385217886 | PMEL | c.926C>G (p.Thr309Ser) c.779C>G (p.Thr260Ser) c.764C>G (p.Thr255Ser) c.479C>G (p.Thr160Ser) c.588C>G c.358+1096C>G (n.358+1096C>G) c.668C>G (p.Thr223Ser) n.662C>G | |
| 12 | g.55957377G= | CA2038181582 | PMEL | c.926C= (p.Thr309=) c.779C= (p.Thr260=) c.764C= (p.Thr255=) c.479C= (p.Thr160=) c.588C= c.358+1096C= (n.358+1096C=) c.668C= (p.Thr223=) n.662C= | |
| 12 | g.55957377G>T | CA385217887 | PMEL | c.926C>A (p.Thr309Asn) c.779C>A (p.Thr260Asn) c.764C>A (p.Thr255Asn) c.479C>A (p.Thr160Asn) c.588C>A c.358+1096C>A (n.358+1096C>A) c.668C>A (p.Thr223Asn) n.662C>A | dbSNP |
| 12 | g.55957378T>A | CA385217892 | PMEL | c.925A>T (p.Thr309Ser) c.778A>T (p.Thr260Ser) c.763A>T (p.Thr255Ser) c.478A>T (p.Thr160Ser) c.587A>T c.358+1095A>T (n.358+1095A>T) c.667A>T (p.Thr223Ser) n.661A>T | |
| 12 | g.55957378T>C | CA385217890 | PMEL | c.925A>G (p.Thr309Ala) c.778A>G (p.Thr260Ala) c.763A>G (p.Thr255Ala) c.478A>G (p.Thr160Ala) c.587A>G c.358+1095A>G (n.358+1095A>G) c.667A>G (p.Thr223Ala) n.661A>G | |
| 12 | g.55957378T>G | CA385217889 | PMEL | c.925A>C (p.Thr309Pro) c.778A>C (p.Thr260Pro) c.763A>C (p.Thr255Pro) c.478A>C (p.Thr160Pro) c.587A>C c.358+1095A>C (n.358+1095A>C) c.667A>C (p.Thr223Pro) n.661A>C | |
| 12 | g.55957379G>A | CA480365064 | PMEL | c.924C>T (p.Gly308=) c.777C>T (p.Gly259=) c.762C>T (p.Gly254=) c.477C>T (p.Gly159=) c.586C>T c.358+1094C>T (n.358+1094C>T) c.666C>T (p.Gly222=) n.660C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957379G>C | CA480365065 | PMEL | c.924C>G (p.Gly308=) c.777C>G (p.Gly259=) c.762C>G (p.Gly254=) c.477C>G (p.Gly159=) c.586C>G c.358+1094C>G (n.358+1094C>G) c.666C>G (p.Gly222=) n.660C>G | |
| 12 | g.55957379G= | CA2038181586 | PMEL | c.924C= (p.Gly308=) c.777C= (p.Gly259=) c.762C= (p.Gly254=) c.477C= (p.Gly159=) c.586C= c.358+1094C= (n.358+1094C=) c.666C= (p.Gly222=) n.660C= | |
| 12 | g.55957379G>T | CA480365066 | PMEL | c.924C>A (p.Gly308=) c.777C>A (p.Gly259=) c.762C>A (p.Gly254=) c.477C>A (p.Gly159=) c.586C>A c.358+1094C>A (n.358+1094C>A) c.666C>A (p.Gly222=) n.660C>A | dbSNP |
| 12 | g.55957380C>A | CA385217894 | PMEL | c.923G>T (p.Gly308Val) c.776G>T (p.Gly259Val) c.761G>T (p.Gly254Val) c.476G>T (p.Gly159Val) c.585G>T c.358+1093G>T (n.358+1093G>T) c.665G>T (p.Gly222Val) n.659G>T | |
| 12 | g.55957380C>G | CA385217895 | PMEL | c.923G>C (p.Gly308Ala) c.776G>C (p.Gly259Ala) c.761G>C (p.Gly254Ala) c.476G>C (p.Gly159Ala) c.585G>C c.358+1093G>C (n.358+1093G>C) c.665G>C (p.Gly222Ala) n.659G>C | |
| 12 | g.55957380C>T | CA385217896 | PMEL | c.923G>A (p.Gly308Asp) c.776G>A (p.Gly259Asp) c.761G>A (p.Gly254Asp) c.476G>A (p.Gly159Asp) c.585G>A c.358+1093G>A (n.358+1093G>A) c.665G>A (p.Gly222Asp) n.659G>A | gnomAD v4 |
| 12 | g.55957381C>A | CA385217899 | PMEL | c.922G>T (p.Gly308Cys) c.775G>T (p.Gly259Cys) c.760G>T (p.Gly254Cys) c.475G>T (p.Gly159Cys) c.584G>T c.358+1092G>T (n.358+1092G>T) c.664G>T (p.Gly222Cys) n.658G>T | |
| 12 | g.55957381C= | CA2038181596 | PMEL | c.922G= (p.Gly308=) c.775G= (p.Gly259=) c.760G= (p.Gly254=) c.475G= (p.Gly159=) c.584G= c.358+1092G= (n.358+1092G=) c.664G= (p.Gly222=) n.658G= | |
| 12 | g.55957381C>G | CA385217901 | PMEL | c.922G>C (p.Gly308Arg) c.775G>C (p.Gly259Arg) c.760G>C (p.Gly254Arg) c.475G>C (p.Gly159Arg) c.584G>C c.358+1092G>C (n.358+1092G>C) c.664G>C (p.Gly222Arg) n.658G>C | |
| 12 | g.55957381C>T | CA385217902 | PMEL | c.922G>A (p.Gly308Ser) c.775G>A (p.Gly259Ser) c.760G>A (p.Gly254Ser) c.475G>A (p.Gly159Ser) c.584G>A c.358+1092G>A (n.358+1092G>A) c.664G>A (p.Gly222Ser) n.658G>A | dbSNP gnomAD v4 |
| 12 | g.55957382T>A | CA480365069 | PMEL | c.921A>T (p.Pro307=) c.774A>T (p.Pro258=) c.759A>T (p.Pro253=) c.474A>T (p.Pro158=) c.583A>T c.358+1091A>T (n.358+1091A>T) c.663A>T (p.Pro221=) n.657A>T | |
| 12 | g.55957382T>C | CA480365070 | PMEL | c.921A>G (p.Pro307=) c.774A>G (p.Pro258=) c.759A>G (p.Pro253=) c.474A>G (p.Pro158=) c.583A>G c.358+1091A>G (n.358+1091A>G) c.663A>G (p.Pro221=) n.657A>G | gnomAD v4 |
| 12 | g.55957382T>G | CA480365071 | PMEL | c.921A>C (p.Pro307=) c.774A>C (p.Pro258=) c.759A>C (p.Pro253=) c.474A>C (p.Pro158=) c.583A>C c.358+1091A>C (n.358+1091A>C) c.663A>C (p.Pro221=) n.657A>C | |
| 12 | g.55957383G>A | CA6620099 | PMEL | c.920C>T (p.Pro307Leu) c.773C>T (p.Pro258Leu) c.758C>T (p.Pro253Leu) c.473C>T (p.Pro158Leu) c.582C>T c.358+1090C>T (n.358+1090C>T) c.662C>T (p.Pro221Leu) n.656C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.55957383G>C | CA385217906 | PMEL | c.920C>G (p.Pro307Arg) c.773C>G (p.Pro258Arg) c.758C>G (p.Pro253Arg) c.473C>G (p.Pro158Arg) c.582C>G c.358+1090C>G (n.358+1090C>G) c.662C>G (p.Pro221Arg) n.656C>G | |
| 12 | g.55957383G= | CA2038181599 | PMEL | c.920C= (p.Pro307=) c.773C= (p.Pro258=) c.758C= (p.Pro253=) c.473C= (p.Pro158=) c.582C= c.358+1090C= (n.358+1090C=) c.662C= (p.Pro221=) n.656C= | |
| 12 | g.55957383G>T | CA385217904 | PMEL | c.920C>A (p.Pro307Gln) c.773C>A (p.Pro258Gln) c.758C>A (p.Pro253Gln) c.473C>A (p.Pro158Gln) c.582C>A c.358+1090C>A (n.358+1090C>A) c.662C>A (p.Pro221Gln) n.656C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957384G>A | CA385217908 | PMEL | c.919C>T (p.Pro307Ser) c.772C>T (p.Pro258Ser) c.757C>T (p.Pro253Ser) c.472C>T (p.Pro158Ser) c.581C>T c.358+1089C>T (n.358+1089C>T) c.661C>T (p.Pro221Ser) n.655C>T | |
| 12 | g.55957384G>C | CA385217910 | PMEL | c.919C>G (p.Pro307Ala) c.772C>G (p.Pro258Ala) c.757C>G (p.Pro253Ala) c.472C>G (p.Pro158Ala) c.581C>G c.358+1089C>G (n.358+1089C>G) c.661C>G (p.Pro221Ala) n.655C>G | gnomAD v4 |
| 12 | g.55957384G= | CA2038181603 | PMEL | c.919C= (p.Pro307=) c.772C= (p.Pro258=) c.757C= (p.Pro253=) c.472C= (p.Pro158=) c.581C= c.358+1089C= (n.358+1089C=) c.661C= (p.Pro221=) n.655C= | |
| 12 | g.55957384G>T | CA385217912 | PMEL | c.919C>A (p.Pro307Thr) c.772C>A (p.Pro258Thr) c.757C>A (p.Pro253Thr) c.472C>A (p.Pro158Thr) c.581C>A c.358+1089C>A (n.358+1089C>A) c.661C>A (p.Pro221Thr) n.655C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957385A>C | CA480365077 | PMEL | c.918T>G (p.Val306=) c.771T>G (p.Val257=) c.756T>G (p.Val252=) c.471T>G (p.Val157=) c.580T>G c.358+1088T>G (n.358+1088T>G) c.660T>G (p.Val220=) n.654T>G | |
| 12 | g.55957385A>G | CA480365078 | PMEL | c.918T>C (p.Val306=) c.771T>C (p.Val257=) c.756T>C (p.Val252=) c.471T>C (p.Val157=) c.580T>C c.358+1088T>C (n.358+1088T>C) c.660T>C (p.Val220=) n.654T>C | |
| 12 | g.55957385A>T | CA480365079 | PMEL | c.918T>A (p.Val306=) c.771T>A (p.Val257=) c.756T>A (p.Val252=) c.471T>A (p.Val157=) c.580T>A c.358+1088T>A (n.358+1088T>A) c.660T>A (p.Val220=) n.654T>A | |
| 12 | g.55957386A>C | CA385217914 | PMEL | c.917T>G (p.Val306Gly) c.770T>G (p.Val257Gly) c.755T>G (p.Val252Gly) c.470T>G (p.Val157Gly) c.579T>G c.358+1087T>G (n.358+1087T>G) c.659T>G (p.Val220Gly) n.653T>G | |
| 12 | g.55957386A>G | CA385217915 | PMEL | c.917T>C (p.Val306Ala) c.770T>C (p.Val257Ala) c.755T>C (p.Val252Ala) c.470T>C (p.Val157Ala) c.579T>C c.358+1087T>C (n.358+1087T>C) c.659T>C (p.Val220Ala) n.653T>C | gnomAD v4 |
| 12 | g.55957386A>T | CA385217916 | PMEL | c.917T>A (p.Val306Asp) c.770T>A (p.Val257Asp) c.755T>A (p.Val252Asp) c.470T>A (p.Val157Asp) c.579T>A c.358+1087T>A (n.358+1087T>A) c.659T>A (p.Val220Asp) n.653T>A | |
| 12 | g.55957387C>A | CA385217917 | PMEL | c.916G>T (p.Val306Phe) c.769G>T (p.Val257Phe) c.754G>T (p.Val252Phe) c.470-1G>T (n.470-1G>T) c.578G>T c.358+1086G>T (n.358+1086G>T) c.658G>T (p.Val220Phe) n.652G>T | gnomAD v4 |
| 12 | g.55957387C= | CA2038181607 | PMEL | c.916G= (p.Val306=) c.769G= (p.Val257=) c.754G= (p.Val252=) c.470-1G= (n.470-1G=) c.578G= c.358+1086G= (n.358+1086G=) c.658G= (p.Val220=) n.652G= | |
| 12 | g.55957387C>G | CA6620100 | PMEL | c.916G>C (p.Val306Leu) c.769G>C (p.Val257Leu) c.754G>C (p.Val252Leu) c.470-1G>C (n.470-1G>C) c.578G>C c.358+1086G>C (n.358+1086G>C) c.658G>C (p.Val220Leu) n.652G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957387C>T | CA385217918 | PMEL | c.916G>A (p.Val306Ile) c.769G>A (p.Val257Ile) c.754G>A (p.Val252Ile) c.470-1G>A (n.470-1G>A) c.578G>A c.358+1086G>A (n.358+1086G>A) c.658G>A (p.Val220Ile) n.652G>A | dbSNP |
| 12 | g.55957388T>A | CA385217919 | PMEL | c.915A>T (p.Pro305=) c.768A>T (p.Pro256=) c.753A>T (p.Pro251=) c.470-2A>T (n.470-2A>T) c.577A>T c.358+1085A>T (n.358+1085A>T) c.657A>T (p.Pro219=) n.651A>T | |
| 12 | g.55957388T>C | CA385217920 | PMEL | c.915A>G (p.Pro305=) c.768A>G (p.Pro256=) c.753A>G (p.Pro251=) c.470-2A>G (n.470-2A>G) c.577A>G c.358+1085A>G (n.358+1085A>G) c.657A>G (p.Pro219=) n.651A>G | |
| 12 | g.55957388T>G | CA385217921 | PMEL | c.915A>C (p.Pro305=) c.768A>C (p.Pro256=) c.753A>C (p.Pro251=) c.470-2A>C (n.470-2A>C) c.577A>C c.358+1085A>C (n.358+1085A>C) c.657A>C (p.Pro219=) n.651A>C | |
| 12 | g.55957389G>A | CA6620101 | PMEL | c.914C>T (p.Pro305Leu) c.767C>T (p.Pro256Leu) c.752C>T (p.Pro251Leu) c.470-3C>T (n.470-3C>T) c.576C>T c.358+1084C>T (n.358+1084C>T) c.656C>T (p.Pro219Leu) n.650C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957389G>C | CA385217922 | PMEL | c.914C>G (p.Pro305Arg) c.767C>G (p.Pro256Arg) c.752C>G (p.Pro251Arg) c.470-3C>G (n.470-3C>G) c.576C>G c.358+1084C>G (n.358+1084C>G) c.656C>G (p.Pro219Arg) n.650C>G | |
| 12 | g.55957389G= | CA2038181611 | PMEL | c.914C= (p.Pro305=) c.767C= (p.Pro256=) c.752C= (p.Pro251=) c.470-3C= (n.470-3C=) c.576C= c.358+1084C= (n.358+1084C=) c.656C= (p.Pro219=) n.650C= | |
| 12 | g.55957389G>T | CA385217923 | PMEL | c.914C>A (p.Pro305Gln) c.767C>A (p.Pro256Gln) c.752C>A (p.Pro251Gln) c.470-3C>A (n.470-3C>A) c.576C>A c.358+1084C>A (n.358+1084C>A) c.656C>A (p.Pro219Gln) n.650C>A |