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 |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
| 13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
| 13 | g.32379740_32380024delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA | CA2082837297 | BRCA2 | c.8954-10_9135delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.*321-10_*502delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8585-10_8766delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.*516-10_*697delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8954-61_9084delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.1421-61_1551delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA n.1081-10_1262delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8962-10_9143delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.1832-10_2013delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8858-10_9039delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA | |
| 13 | g.32379742_32380025del | CA645369604 | BRCA2 | c.8954-8_9136del c.*321-8_*503del c.8585-8_8767del c.*516-8_*698del c.8954-59_9085del c.1421-59_1552del n.1081-8_1263del c.8962-8_9144del c.1832-8_2014del c.8858-8_9040del | ClinVar dbSNP |
| 13 | g.32380016G>A | CA387757781 | BRCA2 | c.9127G>A (p.Glu3043Lys) c.*494G>A (n.*494G>A) c.8758G>A (p.Glu2920Lys) c.*689G>A (n.*689G>A) c.9076G>A (p.Glu3026Lys) c.1543G>A (p.Glu515Lys) n.1254G>A c.9135G>A (n.9135G>A) c.2005G>A c.10G>A (p.Glu4Lys) c.84G>A c.9031G>A (p.Glu3011Lys) | ClinVar dbSNP |
| 13 | g.32380016G>C | CA387757783 | BRCA2 | c.9127G>C (p.Glu3043Gln) c.*494G>C (n.*494G>C) c.8758G>C (p.Glu2920Gln) c.*689G>C (n.*689G>C) c.9076G>C (p.Glu3026Gln) c.1543G>C (p.Glu515Gln) n.1254G>C c.9135G>C (n.9135G>C) c.2005G>C c.10G>C (p.Glu4Gln) c.84G>C c.9031G>C (p.Glu3011Gln) | dbSNP |
| 13 | g.32380016G= | CA2082839972 | BRCA2 | c.9127G= (p.Glu3043=) c.*494G= (n.*494G=) c.8758G= (p.Glu2920=) c.*689G= (n.*689G=) c.9076G= (p.Glu3026=) c.1543G= (p.Glu515=) n.1254G= c.9135G= (n.9135G=) c.2005G= c.10G= (p.Glu4=) c.84G= c.9031G= (p.Glu3011=) | |
| 13 | g.32380016G>T | CA026001 | BRCA2 | c.9127G>T (p.Glu3043Ter) c.*494G>T (n.*494G>T) c.8758G>T (p.Glu2920Ter) c.*689G>T (n.*689G>T) c.9076G>T (p.Glu3026Ter) c.1543G>T (p.Glu515Ter) n.1254G>T c.9135G>T (n.9135G>T) c.2005G>T c.10G>T (p.Glu4Ter) c.84G>T c.9031G>T (p.Glu3011Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32380017A>C | CA387757785 | BRCA2 | c.9128A>C (p.Glu3043Ala) c.*495A>C (n.*495A>C) c.8759A>C (p.Glu2920Ala) c.*690A>C (n.*690A>C) c.9077A>C (p.Glu3026Ala) c.1544A>C (p.Glu515Ala) n.1255A>C c.9136A>C (n.9136A>C) c.2006A>C c.11A>C (p.Glu4Ala) c.85A>C c.9032A>C (p.Glu3011Ala) | |
| 13 | g.32380017A>G | CA387757786 | BRCA2 | c.9128A>G (p.Glu3043Gly) c.*495A>G (n.*495A>G) c.8759A>G (p.Glu2920Gly) c.*690A>G (n.*690A>G) c.9077A>G (p.Glu3026Gly) c.1544A>G (p.Glu515Gly) n.1255A>G c.9136A>G (n.9136A>G) c.2006A>G c.11A>G (p.Glu4Gly) c.85A>G c.9032A>G (p.Glu3011Gly) | dbSNP |
| 13 | g.32380017A>T | CA387757788 | BRCA2 | c.9128A>T (p.Glu3043Val) c.*495A>T (n.*495A>T) c.8759A>T (p.Glu2920Val) c.*690A>T (n.*690A>T) c.9077A>T (p.Glu3026Val) c.1544A>T (p.Glu515Val) n.1255A>T c.9136A>T (n.9136A>T) c.2006A>T c.11A>T (p.Glu4Val) c.85A>T c.9032A>T (p.Glu3011Val) | dbSNP |
| 13 | g.32380018A= | CA2082839980 | BRCA2 | c.9129A= (p.Glu3043=) c.*496A= (n.*496A=) c.8760A= (p.Glu2920=) c.*691A= (n.*691A=) c.9078A= (p.Glu3026=) c.1545A= (p.Glu515=) n.1256A= c.9137A= (n.9137A=) c.2007A= c.12A= (p.Glu4=) c.86A= c.9033A= (p.Glu3011=) | |
| 13 | g.32380018A>C | CA387757792 | BRCA2 | c.9129A>C (p.Glu3043Asp) c.*496A>C (n.*496A>C) c.8760A>C (p.Glu2920Asp) c.*691A>C (n.*691A>C) c.9078A>C (p.Glu3026Asp) c.1545A>C (p.Glu515Asp) n.1256A>C c.9137A>C (n.9137A>C) c.2007A>C c.12A>C (p.Glu4Asp) c.86A>C c.9033A>C (p.Glu3011Asp) | dbSNP |
| 13 | g.32380018A>G | CA16606832 | BRCA2 | c.9129A>G (p.Glu3043=) c.*496A>G (n.*496A>G) c.8760A>G (p.Glu2920=) c.*691A>G (n.*691A>G) c.9078A>G (p.Glu3026=) c.1545A>G (p.Glu515=) n.1256A>G c.9137A>G (n.9137A>G) c.2007A>G c.12A>G (p.Glu4=) c.86A>G c.9033A>G (p.Glu3011=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380018A>T | CA387757790 | BRCA2 | c.9129A>T (p.Glu3043Asp) c.*496A>T (n.*496A>T) c.8760A>T (p.Glu2920Asp) c.*691A>T (n.*691A>T) c.9078A>T (p.Glu3026Asp) c.1545A>T (p.Glu515Asp) n.1256A>T c.9137A>T (n.9137A>T) c.2007A>T c.12A>T (p.Glu4Asp) c.86A>T c.9033A>T (p.Glu3011Asp) | ClinVar dbSNP |
| 13 | g.32380019A= | CA2082839995 | BRCA2 | c.9130A= (p.Ile3044=) c.*497A= (n.*497A=) c.8761A= (p.Ile2921=) c.*692A= (n.*692A=) c.9079A= (p.Ile3027=) c.1546A= (p.Ile516=) n.1257A= c.9138A= (n.9138A=) c.2008A= c.13A= (p.Ile5=) c.87A= c.9034A= (p.Ile3012=) | |
| 13 | g.32380019A>C | CA387757794 | BRCA2 | c.9130A>C (p.Ile3044Leu) c.*497A>C (n.*497A>C) c.8761A>C (p.Ile2921Leu) c.*692A>C (n.*692A>C) c.9079A>C (p.Ile3027Leu) c.1546A>C (p.Ile516Leu) n.1257A>C c.9138A>C (n.9138A>C) c.2008A>C c.13A>C (p.Ile5Leu) c.87A>C c.9034A>C (p.Ile3012Leu) | |
| 13 | g.32380019A>G | CA16606834 | BRCA2 | c.9130A>G (p.Ile3044Val) c.*497A>G (n.*497A>G) c.8761A>G (p.Ile2921Val) c.*692A>G (n.*692A>G) c.9079A>G (p.Ile3027Val) c.1546A>G (p.Ile516Val) n.1257A>G c.9138A>G (n.9138A>G) c.2008A>G c.13A>G (p.Ile5Val) c.87A>G c.9034A>G (p.Ile3012Val) | ClinVar dbSNP |
| 13 | g.32380019A>T | CA387757805 | BRCA2 | c.9130A>T (p.Ile3044Phe) c.*497A>T (n.*497A>T) c.8761A>T (p.Ile2921Phe) c.*692A>T (n.*692A>T) c.9079A>T (p.Ile3027Phe) c.1546A>T (p.Ile516Phe) n.1257A>T c.9138A>T (n.9138A>T) c.2008A>T c.13A>T (p.Ile5Phe) c.87A>T c.9034A>T (p.Ile3012Phe) | |
| 13 | g.32380019_32380020delinsAT | CA2082839991 | BRCA2 | c.9130_9131delinsAT (p.Ile3044=) c.*497_*498delinsAT (n.*497_*498delinsAT) c.8761_8762delinsAT (p.Ile2921=) c.*692_*693delinsAT (n.*692_*693delinsAT) c.9079_9080delinsAT (p.Ile3027=) c.1546_1547delinsAT (p.Ile516=) n.1257_1258delinsAT c.9138_9139delinsAT (n.9138_9139delinsAT) c.2008_2009delinsAT c.13_14delinsAT (p.Ile5=) c.87_88delinsAT c.9034_9035delinsAT (p.Ile3012=) | |
| 13 | g.32380020T>A | CA387757811 | BRCA2 | c.9131T>A (p.Ile3044Asn) c.*498T>A (n.*498T>A) c.8762T>A (p.Ile2921Asn) c.*693T>A (n.*693T>A) c.9080T>A (p.Ile3027Asn) c.1547T>A (p.Ile516Asn) n.1258T>A c.9139T>A (n.9139T>A) c.2009T>A c.14T>A (p.Ile5Asn) c.88T>A c.9035T>A (p.Ile3012Asn) | dbSNP |
| 13 | g.32380020T>C | CA387757813 | BRCA2 | c.9131T>C (p.Ile3044Thr) c.*498T>C (n.*498T>C) c.8762T>C (p.Ile2921Thr) c.*693T>C (n.*693T>C) c.9080T>C (p.Ile3027Thr) c.1547T>C (p.Ile516Thr) n.1258T>C c.9139T>C (n.9139T>C) c.2009T>C c.14T>C (p.Ile5Thr) c.88T>C c.9035T>C (p.Ile3012Thr) | dbSNP |
| 13 | g.32380020T>G | CA387757817 | BRCA2 | c.9131T>G (p.Ile3044Ser) c.*498T>G (n.*498T>G) c.8762T>G (p.Ile2921Ser) c.*693T>G (n.*693T>G) c.9080T>G (p.Ile3027Ser) c.1547T>G (p.Ile516Ser) n.1258T>G c.9139T>G (n.9139T>G) c.2009T>G c.14T>G (p.Ile5Ser) c.88T>G c.9035T>G (p.Ile3012Ser) | |
| 13 | g.32380023del | CA10589549 | BRCA2 | c.9134del (p.Leu3045TyrfsTer17) c.*501del (n.*501del) c.8765del (p.Leu2922TyrfsTer17) c.*696del (n.*696del) c.9083del (p.Leu3028TyrfsTer17) c.1550del (p.Leu517TyrfsTer17) n.1261del c.9142del (n.9142del) c.2012del c.17del (p.Leu6TyrfsTer17) c.91del c.9038del (p.Leu3013TyrfsTer17) | ClinVar dbSNP |
| 13 | g.32380021T>A | CA483262032 | BRCA2 | c.9132T>A (p.Ile3044=) c.*499T>A (n.*499T>A) c.8763T>A (p.Ile2921=) c.*694T>A (n.*694T>A) c.9081T>A (p.Ile3027=) c.1548T>A (p.Ile516=) n.1259T>A c.9140T>A (n.9140T>A) c.2010T>A c.15T>A (p.Ile5=) c.89T>A c.9036T>A (p.Ile3012=) | |
| 13 | g.32380021T>C | CA483262033 | BRCA2 | c.9132T>C (p.Ile3044=) c.*499T>C (n.*499T>C) c.8763T>C (p.Ile2921=) c.*694T>C (n.*694T>C) c.9081T>C (p.Ile3027=) c.1548T>C (p.Ile516=) n.1259T>C c.9140T>C (n.9140T>C) c.2010T>C c.15T>C (p.Ile5=) c.89T>C c.9036T>C (p.Ile3012=) | dbSNP |
| 13 | g.32380021T>G | CA387757819 | BRCA2 | c.9132T>G (p.Ile3044Met) c.*499T>G (n.*499T>G) c.8763T>G (p.Ile2921Met) c.*694T>G (n.*694T>G) c.9081T>G (p.Ile3027Met) c.1548T>G (p.Ile516Met) n.1259T>G c.9140T>G (n.9140T>G) c.2010T>G c.15T>G (p.Ile5Met) c.89T>G c.9036T>G (p.Ile3012Met) | |
| 13 | g.32380022T>A | CA387757821 | BRCA2 | c.9133T>A (p.Leu3045Ile) c.*500T>A (n.*500T>A) c.8764T>A (p.Leu2922Ile) c.*695T>A (n.*695T>A) c.9082T>A (p.Leu3028Ile) c.1549T>A (p.Leu517Ile) n.1260T>A c.9141T>A (n.9141T>A) c.2011T>A c.16T>A (p.Leu6Ile) c.90T>A c.9037T>A (p.Leu3013Ile) | dbSNP |
| 13 | g.32380022T>C | CA483262034 | BRCA2 | c.9133T>C (p.Leu3045=) c.*500T>C (n.*500T>C) c.8764T>C (p.Leu2922=) c.*695T>C (n.*695T>C) c.9082T>C (p.Leu3028=) c.1549T>C (p.Leu517=) n.1260T>C c.9141T>C (n.9141T>C) c.2011T>C c.16T>C (p.Leu6=) c.90T>C c.9037T>C (p.Leu3013=) | |
| 13 | g.32380022T>G | CA387757824 | BRCA2 | c.9133T>G (p.Leu3045Val) c.*500T>G (n.*500T>G) c.8764T>G (p.Leu2922Val) c.*695T>G (n.*695T>G) c.9082T>G (p.Leu3028Val) c.1549T>G (p.Leu517Val) n.1260T>G c.9141T>G (n.9141T>G) c.2011T>G c.16T>G (p.Leu6Val) c.90T>G c.9037T>G (p.Leu3013Val) | |
| 13 | g.32380023T>A | CA387757827 | BRCA2 | c.9134T>A (p.Leu3045Ter) c.*501T>A (n.*501T>A) c.8765T>A (p.Leu2922Ter) c.*696T>A (n.*696T>A) c.9083T>A (p.Leu3028Ter) c.1550T>A (p.Leu517Ter) n.1261T>A c.9142T>A (n.9142T>A) c.2012T>A c.17T>A (p.Leu6Ter) c.91T>A c.9038T>A (p.Leu3013Ter) | dbSNP |
| 13 | g.32380023T>C | CA387757830 | BRCA2 | c.9134T>C (p.Leu3045Ser) c.*501T>C (n.*501T>C) c.8765T>C (p.Leu2922Ser) c.*696T>C (n.*696T>C) c.9083T>C (p.Leu3028Ser) c.1550T>C (p.Leu517Ser) n.1261T>C c.9142T>C (n.9142T>C) c.2012T>C c.17T>C (p.Leu6Ser) c.91T>C c.9038T>C (p.Leu3013Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32380023T>G | CA387757832 | BRCA2 | c.9134T>G (p.Leu3045Ter) c.*501T>G (n.*501T>G) c.8765T>G (p.Leu2922Ter) c.*696T>G (n.*696T>G) c.9083T>G (p.Leu3028Ter) c.1550T>G (p.Leu517Ter) n.1261T>G c.9142T>G (n.9142T>G) c.2012T>G c.17T>G (p.Leu6Ter) c.91T>G c.9038T>G (p.Leu3013Ter) | dbSNP |
| 13 | g.32380023T= | CA2082840011 | BRCA2 | c.9134T= (p.Leu3045=) c.*501T= (n.*501T=) c.8765T= (p.Leu2922=) c.*696T= (n.*696T=) c.9083T= (p.Leu3028=) c.1550T= (p.Leu517=) n.1261T= c.9142T= (n.9142T=) c.2012T= c.17T= (p.Leu6=) c.91T= c.9038T= (p.Leu3013=) | |
| 13 | g.32380024A= | CA2082840024 | BRCA2 | c.9135A= (p.Leu3045=) c.*502A= (n.*502A=) c.8766A= (p.Leu2922=) c.*697A= (n.*697A=) c.9084A= (p.Leu3028=) c.1551A= (p.Leu517=) n.1262A= c.9143A= (n.9143A=) c.2013A= c.18A= (p.Leu6=) c.92A= c.9039A= (p.Leu3013=) | |
| 13 | g.32380024A>C | CA387757835 | BRCA2 | c.9135A>C (p.Leu3045Phe) c.*502A>C (n.*502A>C) c.8766A>C (p.Leu2922Phe) c.*697A>C (n.*697A>C) c.9084A>C (p.Leu3028Phe) c.1551A>C (p.Leu517Phe) n.1262A>C c.9143A>C (n.9143A>C) c.2013A>C c.18A>C (p.Leu6Phe) c.92A>C c.9039A>C (p.Leu3013Phe) | |
| 13 | g.32380024A>G | CA10579812 | BRCA2 | c.9135A>G (p.Leu3045=) c.*502A>G (n.*502A>G) c.8766A>G (p.Leu2922=) c.*697A>G (n.*697A>G) c.9084A>G (p.Leu3028=) c.1551A>G (p.Leu517=) n.1262A>G c.9143A>G (n.9143A>G) c.2013A>G c.18A>G (p.Leu6=) c.92A>G c.9039A>G (p.Leu3013=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380024A>T | CA387757834 | BRCA2 | c.9135A>T (p.Leu3045Phe) c.*502A>T (n.*502A>T) c.8766A>T (p.Leu2922Phe) c.*697A>T (n.*697A>T) c.9084A>T (p.Leu3028Phe) c.1551A>T (p.Leu517Phe) n.1262A>T c.9143A>T (n.9143A>T) c.2013A>T c.18A>T (p.Leu6Phe) c.92A>T c.9039A>T (p.Leu3013Phe) | ClinVar |
| 13 | g.32380025T>A | CA387757836 | BRCA2 | c.9136T>A (p.Phe3046Ile) c.*503T>A (n.*503T>A) c.8767T>A (p.Phe2923Ile) c.*698T>A (n.*698T>A) c.9085T>A (p.Phe3029Ile) c.1552T>A (p.Phe518Ile) n.1263T>A c.9144T>A (n.9144T>A) c.2014T>A c.19T>A (p.Phe7Ile) c.93T>A c.9040T>A (p.Phe3014Ile) | dbSNP |
| 13 | g.32380025T>C | CA387757838 | BRCA2 | c.9136T>C (p.Phe3046Leu) c.*503T>C (n.*503T>C) c.8767T>C (p.Phe2923Leu) c.*698T>C (n.*698T>C) c.9085T>C (p.Phe3029Leu) c.1552T>C (p.Phe518Leu) n.1263T>C c.9144T>C (n.9144T>C) c.2014T>C c.19T>C (p.Phe7Leu) c.93T>C c.9040T>C (p.Phe3014Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380025T>G | CA387757841 | BRCA2 | c.9136T>G (p.Phe3046Val) c.*503T>G (n.*503T>G) c.8767T>G (p.Phe2923Val) c.*698T>G (n.*698T>G) c.9085T>G (p.Phe3029Val) c.1552T>G (p.Phe518Val) n.1263T>G c.9144T>G (n.9144T>G) c.2014T>G c.19T>G (p.Phe7Val) c.93T>G c.9040T>G (p.Phe3014Val) | |
| 13 | g.32380025T= | CA2082840037 | BRCA2 | c.9136T= (p.Phe3046=) c.*503T= (n.*503T=) c.8767T= (p.Phe2923=) c.*698T= (n.*698T=) c.9085T= (p.Phe3029=) c.1552T= (p.Phe518=) n.1263T= c.9144T= (n.9144T=) c.2014T= c.19T= (p.Phe7=) c.93T= c.9040T= (p.Phe3014=) | |
| 13 | g.32380027del | CA2573149242 | BRCA2 | c.9138del (p.Gln3047ArgfsTer15) c.*505del (n.*505del) c.8769del (p.Gln2924ArgfsTer15) c.*700del (n.*700del) c.9087del (p.Gln3030ArgfsTer15) c.1554del (p.Gln519ArgfsTer15) n.1265del c.9146del (n.9146del) c.2016del c.21del (p.Gln8ArgfsTer15) c.95del c.9042del (p.Gln3015ArgfsTer15) | ClinVar dbSNP |
| 13 | g.32380026T>A | CA387757846 | BRCA2 | c.9137T>A (p.Phe3046Tyr) c.*504T>A (n.*504T>A) c.8768T>A (p.Phe2923Tyr) c.*699T>A (n.*699T>A) c.9086T>A (p.Phe3029Tyr) c.1553T>A (p.Phe518Tyr) n.1264T>A c.9145T>A (n.9145T>A) c.2015T>A c.20T>A (p.Phe7Tyr) c.94T>A c.9041T>A (p.Phe3014Tyr) | dbSNP |
| 13 | g.32380026T>C | CA387757847 | BRCA2 | c.9137T>C (p.Phe3046Ser) c.*504T>C (n.*504T>C) c.8768T>C (p.Phe2923Ser) c.*699T>C (n.*699T>C) c.9086T>C (p.Phe3029Ser) c.1553T>C (p.Phe518Ser) n.1264T>C c.9145T>C (n.9145T>C) c.2015T>C c.20T>C (p.Phe7Ser) c.94T>C c.9041T>C (p.Phe3014Ser) | |
| 13 | g.32380026T>G | CA387757848 | BRCA2 | c.9137T>G (p.Phe3046Cys) c.*504T>G (n.*504T>G) c.8768T>G (p.Phe2923Cys) c.*699T>G (n.*699T>G) c.9086T>G (p.Phe3029Cys) c.1553T>G (p.Phe518Cys) n.1264T>G c.9145T>G (n.9145T>G) c.2015T>G c.20T>G (p.Phe7Cys) c.94T>G c.9041T>G (p.Phe3014Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32380026T= | CA2082840052 | BRCA2 | c.9137T= (p.Phe3046=) c.*504T= (n.*504T=) c.8768T= (p.Phe2923=) c.*699T= (n.*699T=) c.9086T= (p.Phe3029=) c.1553T= (p.Phe518=) n.1264T= c.9145T= (n.9145T=) c.2015T= c.20T= (p.Phe7=) c.94T= c.9041T= (p.Phe3014=) | |
| 13 | g.32380027T>A | CA387757849 | BRCA2 | c.9138T>A (p.Phe3046Leu) c.*505T>A (n.*505T>A) c.8769T>A (p.Phe2923Leu) c.*700T>A (n.*700T>A) c.9087T>A (p.Phe3029Leu) c.1554T>A (p.Phe518Leu) n.1265T>A c.9146T>A (n.9146T>A) c.2016T>A c.21T>A (p.Phe7Leu) c.95T>A c.9042T>A (p.Phe3014Leu) | dbSNP |
| 13 | g.32380027T>C | CA483262037 | BRCA2 | c.9138T>C (p.Phe3046=) c.*505T>C (n.*505T>C) c.8769T>C (p.Phe2923=) c.*700T>C (n.*700T>C) c.9087T>C (p.Phe3029=) c.1554T>C (p.Phe518=) n.1265T>C c.9146T>C (n.9146T>C) c.2016T>C c.21T>C (p.Phe7=) c.95T>C c.9042T>C (p.Phe3014=) |