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 |
|---|---|---|---|---|---|
| 2 | g.127428367C>A | CA348404253 | PROC | c.807C>A (p.Asp269Glu) c.131C>A c.909C>A (p.Asp303Glu) c.990C>A (p.Asp330Glu) c.972C>A (p.Asp324Glu) c.870C>A (p.Asp290Glu) n.1332-103G>T c.1050C>A (p.Asp350Glu) c.1152C>A (p.Asp384Glu) c.1092C>A (p.Asp364Glu) n.3607-103G>T n.4043-103G>T c.975C>A (p.Asp325Glu) c.993C>A (p.Asp331Glu) c.750C>A (p.Asp250Glu) c.783C>A (p.Asp261Glu) c.801C>A (p.Asp267Glu) | gnomAD v4 |
| 2 | g.127428367C= | CA1286884431 | PROC | c.807C= (p.Asp269=) c.131C= c.909C= (p.Asp303=) c.990C= (p.Asp330=) c.972C= (p.Asp324=) c.870C= (p.Asp290=) n.1332-103G= c.1050C= (p.Asp350=) c.1152C= (p.Asp384=) c.1092C= (p.Asp364=) n.3607-103G= n.4043-103G= c.975C= (p.Asp325=) c.993C= (p.Asp331=) c.750C= (p.Asp250=) c.783C= (p.Asp261=) c.801C= (p.Asp267=) | |
| 2 | g.127428367C>G | CA348404254 | PROC | c.807C>G (p.Asp269Glu) c.131C>G c.909C>G (p.Asp303Glu) c.990C>G (p.Asp330Glu) c.972C>G (p.Asp324Glu) c.870C>G (p.Asp290Glu) n.1332-103G>C c.1050C>G (p.Asp350Glu) c.1152C>G (p.Asp384Glu) c.1092C>G (p.Asp364Glu) n.3607-103G>C n.4043-103G>C c.975C>G (p.Asp325Glu) c.993C>G (p.Asp331Glu) c.750C>G (p.Asp250Glu) c.783C>G (p.Asp261Glu) c.801C>G (p.Asp267Glu) | |
| 2 | g.127428367C>T | CA1859461 | PROC | c.807C>T (p.Asp269=) c.131C>T c.909C>T (p.Asp303=) c.990C>T (p.Asp330=) c.972C>T (p.Asp324=) c.870C>T (p.Asp290=) n.1332-103G>A c.1050C>T (p.Asp350=) c.1152C>T (p.Asp384=) c.1092C>T (p.Asp364=) n.3607-103G>A n.4043-103G>A c.975C>T (p.Asp325=) c.993C>T (p.Asp331=) c.750C>T (p.Asp250=) c.783C>T (p.Asp261=) c.801C>T (p.Asp267=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428368C>A | CA348404255 | PROC | c.808C>A (p.Leu270Met) c.132C>A c.910C>A (p.Leu304Met) c.991C>A (p.Leu331Met) c.973C>A (p.Leu325Met) c.871C>A (p.Leu291Met) n.1332-104G>T c.1051C>A (p.Leu351Met) c.1153C>A (p.Leu385Met) c.1093C>A (p.Leu365Met) n.3607-104G>T n.4043-104G>T c.976C>A (p.Leu326Met) c.994C>A (p.Leu332Met) c.751C>A (p.Leu251Met) c.784C>A (p.Leu262Met) c.802C>A (p.Leu268Met) | |
| 2 | g.127428368C= | CA1286884432 | PROC | c.808C= (p.Leu270=) c.132C= c.910C= (p.Leu304=) c.991C= (p.Leu331=) c.973C= (p.Leu325=) c.871C= (p.Leu291=) n.1332-104G= c.1051C= (p.Leu351=) c.1153C= (p.Leu385=) c.1093C= (p.Leu365=) n.3607-104G= n.4043-104G= c.976C= (p.Leu326=) c.994C= (p.Leu332=) c.751C= (p.Leu251=) c.784C= (p.Leu262=) c.802C= (p.Leu268=) | |
| 2 | g.127428368C>G | CA348404256 | PROC | c.808C>G (p.Leu270Val) c.132C>G c.910C>G (p.Leu304Val) c.991C>G (p.Leu331Val) c.973C>G (p.Leu325Val) c.871C>G (p.Leu291Val) n.1332-104G>C c.1051C>G (p.Leu351Val) c.1153C>G (p.Leu385Val) c.1093C>G (p.Leu365Val) n.3607-104G>C n.4043-104G>C c.976C>G (p.Leu326Val) c.994C>G (p.Leu332Val) c.751C>G (p.Leu251Val) c.784C>G (p.Leu262Val) c.802C>G (p.Leu268Val) | |
| 2 | g.127428368C>T | CA428618851 | PROC | c.808C>T (p.Leu270=) c.132C>T c.910C>T (p.Leu304=) c.991C>T (p.Leu331=) c.973C>T (p.Leu325=) c.871C>T (p.Leu291=) n.1332-104G>A c.1051C>T (p.Leu351=) c.1153C>T (p.Leu385=) c.1093C>T (p.Leu365=) n.3607-104G>A n.4043-104G>A c.976C>T (p.Leu326=) c.994C>T (p.Leu332=) c.751C>T (p.Leu251=) c.784C>T (p.Leu262=) c.802C>T (p.Leu268=) | dbSNP |
| 2 | g.127428369_127428374del | CA2577090324 | PROC | c.809_814del (p.Leu270_Arg271del) c.133_138del c.911_916del (p.Leu304_Arg305del) c.992_997del (p.Leu331_Arg332del) c.974_979del (p.Leu325_Arg326del) c.872_877del (p.Leu291_Arg292del) n.1332-109_1332-104del c.1052_1057del (p.Leu351_Arg352del) c.1154_1159del (p.Leu385_Arg386del) c.1094_1099del (p.Leu365_Arg366del) n.3607-109_3607-104del n.4043-109_4043-104del c.977_982del (p.Leu326_Arg327del) c.995_1000del (p.Leu332_Arg333del) c.752_757del (p.Leu251_Arg252del) c.785_790del (p.Leu262_Arg263del) c.803_808del (p.Leu268_Arg269del) | |
| 2 | g.127428369T>A | CA348404258 | PROC | c.809T>A (p.Leu270Gln) c.133T>A c.911T>A (p.Leu304Gln) c.992T>A (p.Leu331Gln) c.974T>A (p.Leu325Gln) c.872T>A (p.Leu291Gln) n.1332-105A>T c.1052T>A (p.Leu351Gln) c.1154T>A (p.Leu385Gln) c.1094T>A (p.Leu365Gln) n.3607-105A>T n.4043-105A>T c.977T>A (p.Leu326Gln) c.995T>A (p.Leu332Gln) c.752T>A (p.Leu251Gln) c.785T>A (p.Leu262Gln) c.803T>A (p.Leu268Gln) | |
| 2 | g.127428369T>C | CA348404260 | PROC | c.809T>C (p.Leu270Pro) c.133T>C c.911T>C (p.Leu304Pro) c.992T>C (p.Leu331Pro) c.974T>C (p.Leu325Pro) c.872T>C (p.Leu291Pro) n.1332-105A>G c.1052T>C (p.Leu351Pro) c.1154T>C (p.Leu385Pro) c.1094T>C (p.Leu365Pro) n.3607-105A>G n.4043-105A>G c.977T>C (p.Leu326Pro) c.995T>C (p.Leu332Pro) c.752T>C (p.Leu251Pro) c.785T>C (p.Leu262Pro) c.803T>C (p.Leu268Pro) | |
| 2 | g.127428369T>G | CA348404262 | PROC | c.809T>G (p.Leu270Arg) c.133T>G c.911T>G (p.Leu304Arg) c.992T>G (p.Leu331Arg) c.974T>G (p.Leu325Arg) c.872T>G (p.Leu291Arg) n.1332-105A>C c.1052T>G (p.Leu351Arg) c.1154T>G (p.Leu385Arg) c.1094T>G (p.Leu365Arg) n.3607-105A>C n.4043-105A>C c.977T>G (p.Leu326Arg) c.995T>G (p.Leu332Arg) c.752T>G (p.Leu251Arg) c.785T>G (p.Leu262Arg) c.803T>G (p.Leu268Arg) | |
| 2 | g.127428370G>A | CA1859463 | PROC | c.810G>A (p.Leu270=) c.134G>A c.912G>A (p.Leu304=) c.993G>A (p.Leu331=) c.975G>A (p.Leu325=) c.873G>A (p.Leu291=) n.1332-106C>T c.1053G>A (p.Leu351=) c.1155G>A (p.Leu385=) c.1095G>A (p.Leu365=) n.3607-106C>T n.4043-106C>T c.978G>A (p.Leu326=) c.996G>A (p.Leu332=) c.753G>A (p.Leu251=) c.786G>A (p.Leu262=) c.804G>A (p.Leu268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428370G>C | CA1859462 | PROC | c.810G>C (p.Leu270=) c.134G>C c.912G>C (p.Leu304=) c.993G>C (p.Leu331=) c.975G>C (p.Leu325=) c.873G>C (p.Leu291=) n.1332-106C>G c.1053G>C (p.Leu351=) c.1155G>C (p.Leu385=) c.1095G>C (p.Leu365=) n.3607-106C>G n.4043-106C>G c.978G>C (p.Leu326=) c.996G>C (p.Leu332=) c.753G>C (p.Leu251=) c.786G>C (p.Leu262=) c.804G>C (p.Leu268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428370G= | CA1286884433 | PROC | c.810G= (p.Leu270=) c.134G= c.912G= (p.Leu304=) c.993G= (p.Leu331=) c.975G= (p.Leu325=) c.873G= (p.Leu291=) n.1332-106C= c.1053G= (p.Leu351=) c.1155G= (p.Leu385=) c.1095G= (p.Leu365=) n.3607-106C= n.4043-106C= c.978G= (p.Leu326=) c.996G= (p.Leu332=) c.753G= (p.Leu251=) c.786G= (p.Leu262=) c.804G= (p.Leu268=) | |
| 2 | g.127428370G>T | CA428618854 | PROC | c.810G>T (p.Leu270=) c.134G>T c.912G>T (p.Leu304=) c.993G>T (p.Leu331=) c.975G>T (p.Leu325=) c.873G>T (p.Leu291=) n.1332-106C>A c.1053G>T (p.Leu351=) c.1155G>T (p.Leu385=) c.1095G>T (p.Leu365=) n.3607-106C>A n.4043-106C>A c.978G>T (p.Leu326=) c.996G>T (p.Leu332=) c.753G>T (p.Leu251=) c.786G>T (p.Leu262=) c.804G>T (p.Leu268=) | |
| 2 | g.127428371C>A | CA428618855 | PROC | c.811C>A (p.Arg271=) c.135C>A c.913C>A (p.Arg305=) c.994C>A (p.Arg332=) c.976C>A (p.Arg326=) c.874C>A (p.Arg292=) n.1332-107G>T c.1054C>A (p.Arg352=) c.1156C>A (p.Arg386=) c.1096C>A (p.Arg366=) n.3607-107G>T n.4043-107G>T c.979C>A (p.Arg327=) c.997C>A (p.Arg333=) c.754C>A (p.Arg252=) c.787C>A (p.Arg263=) c.805C>A (p.Arg269=) | dbSNP gnomAD v4 |
| 2 | g.127428371C= | CA1286884434 | PROC | c.811C= (p.Arg271=) c.135C= c.913C= (p.Arg305=) c.994C= (p.Arg332=) c.976C= (p.Arg326=) c.874C= (p.Arg292=) n.1332-107G= c.1054C= (p.Arg352=) c.1156C= (p.Arg386=) c.1096C= (p.Arg366=) n.3607-107G= n.4043-107G= c.979C= (p.Arg327=) c.997C= (p.Arg333=) c.754C= (p.Arg252=) c.787C= (p.Arg263=) c.805C= (p.Arg269=) | |
| 2 | g.127428371C>G | CA348404266 | PROC | c.811C>G (p.Arg271Gly) c.135C>G c.913C>G (p.Arg305Gly) c.994C>G (p.Arg332Gly) c.976C>G (p.Arg326Gly) c.874C>G (p.Arg292Gly) n.1332-107G>C c.1054C>G (p.Arg352Gly) c.1156C>G (p.Arg386Gly) c.1096C>G (p.Arg366Gly) n.3607-107G>C n.4043-107G>C c.979C>G (p.Arg327Gly) c.997C>G (p.Arg333Gly) c.754C>G (p.Arg252Gly) c.787C>G (p.Arg263Gly) c.805C>G (p.Arg269Gly) | |
| 2 | g.127428371C>T | CA1859464 | PROC | c.811C>T (p.Arg271Trp) c.135C>T c.913C>T (p.Arg305Trp) c.994C>T (p.Arg332Trp) c.976C>T (p.Arg326Trp) c.874C>T (p.Arg292Trp) n.1332-107G>A c.1054C>T (p.Arg352Trp) c.1156C>T (p.Arg386Trp) c.1096C>T (p.Arg366Trp) n.3607-107G>A n.4043-107G>A c.979C>T (p.Arg327Trp) c.997C>T (p.Arg333Trp) c.754C>T (p.Arg252Trp) c.787C>T (p.Arg263Trp) c.805C>T (p.Arg269Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.127428372G>A | CA348404273 | PROC | c.812G>A (p.Arg271Gln) c.136G>A c.914G>A (p.Arg305Gln) c.995G>A (p.Arg332Gln) c.977G>A (p.Arg326Gln) c.875G>A (p.Arg292Gln) n.1332-108C>T c.1055G>A (p.Arg352Gln) c.1157G>A (p.Arg386Gln) c.1097G>A (p.Arg366Gln) n.3607-108C>T n.4043-108C>T c.980G>A (p.Arg327Gln) c.998G>A (p.Arg333Gln) c.755G>A (p.Arg252Gln) c.788G>A (p.Arg263Gln) c.806G>A (p.Arg269Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428372G>C | CA348404271 | PROC | c.812G>C (p.Arg271Pro) c.136G>C c.914G>C (p.Arg305Pro) c.995G>C (p.Arg332Pro) c.977G>C (p.Arg326Pro) c.875G>C (p.Arg292Pro) n.1332-108C>G c.1055G>C (p.Arg352Pro) c.1157G>C (p.Arg386Pro) c.1097G>C (p.Arg366Pro) n.3607-108C>G n.4043-108C>G c.980G>C (p.Arg327Pro) c.998G>C (p.Arg333Pro) c.755G>C (p.Arg252Pro) c.788G>C (p.Arg263Pro) c.806G>C (p.Arg269Pro) | |
| 2 | g.127428372G= | CA1286884435 | PROC | c.812G= (p.Arg271=) c.136G= c.914G= (p.Arg305=) c.995G= (p.Arg332=) c.977G= (p.Arg326=) c.875G= (p.Arg292=) n.1332-108C= c.1055G= (p.Arg352=) c.1157G= (p.Arg386=) c.1097G= (p.Arg366=) n.3607-108C= n.4043-108C= c.980G= (p.Arg327=) c.998G= (p.Arg333=) c.755G= (p.Arg252=) c.788G= (p.Arg263=) c.806G= (p.Arg269=) | |
| 2 | g.127428372G>T | CA1859465 | PROC | c.812G>T (p.Arg271Leu) c.136G>T c.914G>T (p.Arg305Leu) c.995G>T (p.Arg332Leu) c.977G>T (p.Arg326Leu) c.875G>T (p.Arg292Leu) n.1332-108C>A c.1055G>T (p.Arg352Leu) c.1157G>T (p.Arg386Leu) c.1097G>T (p.Arg366Leu) n.3607-108C>A n.4043-108C>A c.980G>T (p.Arg327Leu) c.998G>T (p.Arg333Leu) c.755G>T (p.Arg252Leu) c.788G>T (p.Arg263Leu) c.806G>T (p.Arg269Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428373G>A | CA428618859 | PROC | c.813G>A (p.Arg271=) c.137G>A c.915G>A (p.Arg305=) c.996G>A (p.Arg332=) c.978G>A (p.Arg326=) c.876G>A (p.Arg292=) n.1332-109C>T c.1056G>A (p.Arg352=) c.1158G>A (p.Arg386=) c.1098G>A (p.Arg366=) n.3607-109C>T n.4043-109C>T c.981G>A (p.Arg327=) c.999G>A (p.Arg333=) c.756G>A (p.Arg252=) c.789G>A (p.Arg263=) c.807G>A (p.Arg269=) | |
| 2 | g.127428373G>C | CA428618857 | PROC | c.813G>C (p.Arg271=) c.137G>C c.915G>C (p.Arg305=) c.996G>C (p.Arg332=) c.978G>C (p.Arg326=) c.876G>C (p.Arg292=) n.1332-109C>G c.1056G>C (p.Arg352=) c.1158G>C (p.Arg386=) c.1098G>C (p.Arg366=) n.3607-109C>G n.4043-109C>G c.981G>C (p.Arg327=) c.999G>C (p.Arg333=) c.756G>C (p.Arg252=) c.789G>C (p.Arg263=) c.807G>C (p.Arg269=) | |
| 2 | g.127428373G>T | CA428618858 | PROC | c.813G>T (p.Arg271=) c.137G>T c.915G>T (p.Arg305=) c.996G>T (p.Arg332=) c.978G>T (p.Arg326=) c.876G>T (p.Arg292=) n.1332-109C>A c.1056G>T (p.Arg352=) c.1158G>T (p.Arg386=) c.1098G>T (p.Arg366=) n.3607-109C>A n.4043-109C>A c.981G>T (p.Arg327=) c.999G>T (p.Arg333=) c.756G>T (p.Arg252=) c.789G>T (p.Arg263=) c.807G>T (p.Arg269=) | |
| 2 | g.127428374C>A | CA348404275 | PROC | c.814C>A (p.Arg272Ser) c.138C>A c.916C>A (p.Arg306Ser) c.997C>A (p.Arg333Ser) c.979C>A (p.Arg327Ser) c.877C>A (p.Arg293Ser) n.1332-110G>T c.1057C>A (p.Arg353Ser) c.1159C>A (p.Arg387Ser) c.1099C>A (p.Arg367Ser) n.3607-110G>T n.4043-110G>T c.982C>A (p.Arg328Ser) c.1000C>A (p.Arg334Ser) c.757C>A (p.Arg253Ser) c.790C>A (p.Arg264Ser) c.808C>A (p.Arg270Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428374C= | CA1286884436 | PROC | c.814C= (p.Arg272=) c.138C= c.916C= (p.Arg306=) c.997C= (p.Arg333=) c.979C= (p.Arg327=) c.877C= (p.Arg293=) n.1332-110G= c.1057C= (p.Arg353=) c.1159C= (p.Arg387=) c.1099C= (p.Arg367=) n.3607-110G= n.4043-110G= c.982C= (p.Arg328=) c.1000C= (p.Arg334=) c.757C= (p.Arg253=) c.790C= (p.Arg264=) c.808C= (p.Arg270=) | |
| 2 | g.127428374C>G | CA348404277 | PROC | c.814C>G (p.Arg272Gly) c.138C>G c.916C>G (p.Arg306Gly) c.997C>G (p.Arg333Gly) c.979C>G (p.Arg327Gly) c.877C>G (p.Arg293Gly) n.1332-110G>C c.1057C>G (p.Arg353Gly) c.1159C>G (p.Arg387Gly) c.1099C>G (p.Arg367Gly) n.3607-110G>C n.4043-110G>C c.982C>G (p.Arg328Gly) c.1000C>G (p.Arg334Gly) c.757C>G (p.Arg253Gly) c.790C>G (p.Arg264Gly) c.808C>G (p.Arg270Gly) | |
| 2 | g.127428374C>T | CA114414 | PROC | c.814C>T (p.Arg272Cys) c.138C>T c.916C>T (p.Arg306Cys) c.997C>T (p.Arg333Cys) c.979C>T (p.Arg327Cys) c.877C>T (p.Arg293Cys) n.1332-110G>A c.1057C>T (p.Arg353Cys) c.1159C>T (p.Arg387Cys) c.1099C>T (p.Arg367Cys) n.3607-110G>A n.4043-110G>A c.982C>T (p.Arg328Cys) c.1000C>T (p.Arg334Cys) c.757C>T (p.Arg253Cys) c.790C>T (p.Arg264Cys) c.808C>T (p.Arg270Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.127428375G>A | CA348404281 | PROC | c.815G>A (p.Arg272His) c.139G>A c.917G>A (p.Arg306His) c.998G>A (p.Arg333His) c.980G>A (p.Arg327His) c.878G>A (p.Arg293His) n.1332-111C>T c.1058G>A (p.Arg353His) c.1160G>A (p.Arg387His) c.1100G>A (p.Arg367His) n.3607-111C>T n.4043-111C>T c.983G>A (p.Arg328His) c.1001G>A (p.Arg334His) c.758G>A (p.Arg253His) c.791G>A (p.Arg264His) c.809G>A (p.Arg270His) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428375G>C | CA348404282 | PROC | c.815G>C (p.Arg272Pro) c.139G>C c.917G>C (p.Arg306Pro) c.998G>C (p.Arg333Pro) c.980G>C (p.Arg327Pro) c.878G>C (p.Arg293Pro) n.1332-111C>G c.1058G>C (p.Arg353Pro) c.1160G>C (p.Arg387Pro) c.1100G>C (p.Arg367Pro) n.3607-111C>G n.4043-111C>G c.983G>C (p.Arg328Pro) c.1001G>C (p.Arg334Pro) c.758G>C (p.Arg253Pro) c.791G>C (p.Arg264Pro) c.809G>C (p.Arg270Pro) | |
| 2 | g.127428375G= | CA1286884437 | PROC | c.815G= (p.Arg272=) c.139G= c.917G= (p.Arg306=) c.998G= (p.Arg333=) c.980G= (p.Arg327=) c.878G= (p.Arg293=) n.1332-111C= c.1058G= (p.Arg353=) c.1160G= (p.Arg387=) c.1100G= (p.Arg367=) n.3607-111C= n.4043-111C= c.983G= (p.Arg328=) c.1001G= (p.Arg334=) c.758G= (p.Arg253=) c.791G= (p.Arg264=) c.809G= (p.Arg270=) | |
| 2 | g.127428375G>T | CA348404284 | PROC | c.815G>T (p.Arg272Leu) c.139G>T c.917G>T (p.Arg306Leu) c.998G>T (p.Arg333Leu) c.980G>T (p.Arg327Leu) c.878G>T (p.Arg293Leu) n.1332-111C>A c.1058G>T (p.Arg353Leu) c.1160G>T (p.Arg387Leu) c.1100G>T (p.Arg367Leu) n.3607-111C>A n.4043-111C>A c.983G>T (p.Arg328Leu) c.1001G>T (p.Arg334Leu) c.758G>T (p.Arg253Leu) c.791G>T (p.Arg264Leu) c.809G>T (p.Arg270Leu) | gnomAD v4 |
| 2 | g.127428376C>A | CA428618862 | PROC | c.816C>A (p.Arg272=) c.140C>A c.918C>A (p.Arg306=) c.999C>A (p.Arg333=) c.981C>A (p.Arg327=) c.879C>A (p.Arg293=) n.1332-112G>T c.1059C>A (p.Arg353=) c.1161C>A (p.Arg387=) c.1101C>A (p.Arg367=) n.3607-112G>T n.4043-112G>T c.984C>A (p.Arg328=) c.1002C>A (p.Arg334=) c.759C>A (p.Arg253=) c.792C>A (p.Arg264=) c.810C>A (p.Arg270=) | |
| 2 | g.127428376C= | CA1286884438 | PROC | c.816C= (p.Arg272=) c.140C= c.918C= (p.Arg306=) c.999C= (p.Arg333=) c.981C= (p.Arg327=) c.879C= (p.Arg293=) n.1332-112G= c.1059C= (p.Arg353=) c.1161C= (p.Arg387=) c.1101C= (p.Arg367=) n.3607-112G= n.4043-112G= c.984C= (p.Arg328=) c.1002C= (p.Arg334=) c.759C= (p.Arg253=) c.792C= (p.Arg264=) c.810C= (p.Arg270=) | |
| 2 | g.127428376C>G | CA428618863 | PROC | c.816C>G (p.Arg272=) c.140C>G c.918C>G (p.Arg306=) c.999C>G (p.Arg333=) c.981C>G (p.Arg327=) c.879C>G (p.Arg293=) n.1332-112G>C c.1059C>G (p.Arg353=) c.1161C>G (p.Arg387=) c.1101C>G (p.Arg367=) n.3607-112G>C n.4043-112G>C c.984C>G (p.Arg328=) c.1002C>G (p.Arg334=) c.759C>G (p.Arg253=) c.792C>G (p.Arg264=) c.810C>G (p.Arg270=) | dbSNP gnomAD v4 |
| 2 | g.127428376C>T | CA428618865 | PROC | c.816C>T (p.Arg272=) c.140C>T c.918C>T (p.Arg306=) c.999C>T (p.Arg333=) c.981C>T (p.Arg327=) c.879C>T (p.Arg293=) n.1332-112G>A c.1059C>T (p.Arg353=) c.1161C>T (p.Arg387=) c.1101C>T (p.Arg367=) n.3607-112G>A n.4043-112G>A c.984C>T (p.Arg328=) c.1002C>T (p.Arg334=) c.759C>T (p.Arg253=) c.792C>T (p.Arg264=) c.810C>T (p.Arg270=) | |
| 2 | g.127428377T>A | CA348404286 | PROC | c.817T>A (p.Trp273Arg) c.141T>A c.919T>A (p.Trp307Arg) c.1000T>A (p.Trp334Arg) c.982T>A (p.Trp328Arg) c.880T>A (p.Trp294Arg) n.1332-113A>T c.1060T>A (p.Trp354Arg) c.1162T>A (p.Trp388Arg) c.1102T>A (p.Trp368Arg) n.3607-113A>T n.4043-113A>T c.985T>A (p.Trp329Arg) c.1003T>A (p.Trp335Arg) c.760T>A (p.Trp254Arg) c.793T>A (p.Trp265Arg) c.811T>A (p.Trp271Arg) | |
| 2 | g.127428377T>C | CA348404288 | PROC | c.817T>C (p.Trp273Arg) c.141T>C c.919T>C (p.Trp307Arg) c.1000T>C (p.Trp334Arg) c.982T>C (p.Trp328Arg) c.880T>C (p.Trp294Arg) n.1332-113A>G c.1060T>C (p.Trp354Arg) c.1162T>C (p.Trp388Arg) c.1102T>C (p.Trp368Arg) n.3607-113A>G n.4043-113A>G c.985T>C (p.Trp329Arg) c.1003T>C (p.Trp335Arg) c.760T>C (p.Trp254Arg) c.793T>C (p.Trp265Arg) c.811T>C (p.Trp271Arg) | |
| 2 | g.127428377T>G | CA348404290 | PROC | c.817T>G (p.Trp273Gly) c.141T>G c.919T>G (p.Trp307Gly) c.1000T>G (p.Trp334Gly) c.982T>G (p.Trp328Gly) c.880T>G (p.Trp294Gly) n.1332-113A>C c.1060T>G (p.Trp354Gly) c.1162T>G (p.Trp388Gly) c.1102T>G (p.Trp368Gly) n.3607-113A>C n.4043-113A>C c.985T>G (p.Trp329Gly) c.1003T>G (p.Trp335Gly) c.760T>G (p.Trp254Gly) c.793T>G (p.Trp265Gly) c.811T>G (p.Trp271Gly) | |
| 2 | g.127428378G>A | CA348404292 | PROC | c.818G>A (p.Trp273Ter) c.142G>A c.920G>A (p.Trp307Ter) c.1001G>A (p.Trp334Ter) c.983G>A (p.Trp328Ter) c.881G>A (p.Trp294Ter) n.1332-114C>T c.1061G>A (p.Trp354Ter) c.1163G>A (p.Trp388Ter) c.1103G>A (p.Trp368Ter) n.3607-114C>T n.4043-114C>T c.986G>A (p.Trp329Ter) c.1004G>A (p.Trp335Ter) c.761G>A (p.Trp254Ter) c.794G>A (p.Trp265Ter) c.812G>A (p.Trp271Ter) | |
| 2 | g.127428378G>C | CA348404293 | PROC | c.818G>C (p.Trp273Ser) c.142G>C c.920G>C (p.Trp307Ser) c.1001G>C (p.Trp334Ser) c.983G>C (p.Trp328Ser) c.881G>C (p.Trp294Ser) n.1332-114C>G c.1061G>C (p.Trp354Ser) c.1163G>C (p.Trp388Ser) c.1103G>C (p.Trp368Ser) n.3607-114C>G n.4043-114C>G c.986G>C (p.Trp329Ser) c.1004G>C (p.Trp335Ser) c.761G>C (p.Trp254Ser) c.794G>C (p.Trp265Ser) c.812G>C (p.Trp271Ser) | |
| 2 | g.127428378G>T | CA348404295 | PROC | c.818G>T (p.Trp273Leu) c.142G>T c.920G>T (p.Trp307Leu) c.1001G>T (p.Trp334Leu) c.983G>T (p.Trp328Leu) c.881G>T (p.Trp294Leu) n.1332-114C>A c.1061G>T (p.Trp354Leu) c.1163G>T (p.Trp388Leu) c.1103G>T (p.Trp368Leu) n.3607-114C>A n.4043-114C>A c.986G>T (p.Trp329Leu) c.1004G>T (p.Trp335Leu) c.761G>T (p.Trp254Leu) c.794G>T (p.Trp265Leu) c.812G>T (p.Trp271Leu) | |
| 2 | g.127428379G>A | CA348404301 | PROC | c.819G>A (p.Trp273Ter) c.143G>A c.921G>A (p.Trp307Ter) c.1002G>A (p.Trp334Ter) c.984G>A (p.Trp328Ter) c.882G>A (p.Trp294Ter) n.1332-115C>T c.1062G>A (p.Trp354Ter) c.1164G>A (p.Trp388Ter) c.1104G>A (p.Trp368Ter) n.3607-115C>T n.4043-115C>T c.987G>A (p.Trp329Ter) c.1005G>A (p.Trp335Ter) c.762G>A (p.Trp254Ter) c.795G>A (p.Trp265Ter) c.813G>A (p.Trp271Ter) | |
| 2 | g.127428379G>C | CA348404300 | PROC | c.819G>C (p.Trp273Cys) c.143G>C c.921G>C (p.Trp307Cys) c.1002G>C (p.Trp334Cys) c.984G>C (p.Trp328Cys) c.882G>C (p.Trp294Cys) n.1332-115C>G c.1062G>C (p.Trp354Cys) c.1164G>C (p.Trp388Cys) c.1104G>C (p.Trp368Cys) n.3607-115C>G n.4043-115C>G c.987G>C (p.Trp329Cys) c.1005G>C (p.Trp335Cys) c.762G>C (p.Trp254Cys) c.795G>C (p.Trp265Cys) c.813G>C (p.Trp271Cys) | |
| 2 | g.127428379G= | CA1286884439 | PROC | c.819G= (p.Trp273=) c.143G= c.921G= (p.Trp307=) c.1002G= (p.Trp334=) c.984G= (p.Trp328=) c.882G= (p.Trp294=) n.1332-115C= c.1062G= (p.Trp354=) c.1164G= (p.Trp388=) c.1104G= (p.Trp368=) n.3607-115C= n.4043-115C= c.987G= (p.Trp329=) c.1005G= (p.Trp335=) c.762G= (p.Trp254=) c.795G= (p.Trp265=) c.813G= (p.Trp271=) | |
| 2 | g.127428379G>T | CA348404298 | PROC | c.819G>T (p.Trp273Cys) c.143G>T c.921G>T (p.Trp307Cys) c.1002G>T (p.Trp334Cys) c.984G>T (p.Trp328Cys) c.882G>T (p.Trp294Cys) n.1332-115C>A c.1062G>T (p.Trp354Cys) c.1164G>T (p.Trp388Cys) c.1104G>T (p.Trp368Cys) n.3607-115C>A n.4043-115C>A c.987G>T (p.Trp329Cys) c.1005G>T (p.Trp335Cys) c.762G>T (p.Trp254Cys) c.795G>T (p.Trp265Cys) c.813G>T (p.Trp271Cys) | ClinVar dbSNP |
| 2 | g.127428380G>A | CA348404303 | PROC | c.820G>A (p.Glu274Lys) c.144G>A c.922G>A (p.Glu308Lys) c.1003G>A (p.Glu335Lys) c.985G>A (p.Glu329Lys) c.883G>A (p.Glu295Lys) n.1332-116C>T c.1063G>A (p.Glu355Lys) c.1165G>A (p.Glu389Lys) c.1105G>A (p.Glu369Lys) n.3607-116C>T n.4043-116C>T c.988G>A (p.Glu330Lys) c.1006G>A (p.Glu336Lys) c.763G>A (p.Glu255Lys) c.796G>A (p.Glu266Lys) c.814G>A (p.Glu272Lys) | dbSNP COSMIC COSMIC |