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.32379315_32379819del | CA2499222346 | BRCA2 | c.8755-2_9023del c.*122-2_*390del c.8386-2_8654del c.*317-2_*585del c.8755-2_8972del c.1222-2_1439del n.882-2_1150del c.8763-2_9031del c.1633-2_1901del c.8659-2_8927del c.8755-435_*61del | ClinVar dbSNP |
| 13 | g.32379406_32379410delinsTAGGA | CA2082835913 | BRCA2 | c.8844_8848delinsTAGGA (p.Ile2948=) c.*211_*215delinsTAGGA (n.*211_*215delinsTAGGA) c.8475_8479delinsTAGGA (p.Ile2825=) c.*406_*410delinsTAGGA (n.*406_*410delinsTAGGA) c.1311_1315delinsTAGGA (p.Ile437=) n.971_975delinsTAGGA c.8852_8856delinsTAGGA (n.8852_8856delinsTAGGA) c.1722_1726delinsTAGGA c.406_410delinsTAGGA (n.406_410delinsTAGGA) c.8748_8752delinsTAGGA (p.Ile2916=) c.8755-344_8755-340delinsTAGGA (n.8755-344_8755-340delinsTAGGA) | |
| 13 | g.32379410_32379413del | CA025848 | BRCA2 | c.8848_8851del (p.Lys2950ProfsTer25) c.*215_*218del (n.*215_*218del) c.8479_8482del (p.Lys2827ProfsTer25) c.*410_*413del (n.*410_*413del) c.1315_1318del (p.Lys439ProfsTer25) n.975_978del c.8856_8859del (n.8856_8859del) c.1726_1729del c.410_413del (n.410_413del) c.8752_8755del (p.Lys2918ProfsTer25) c.8755-340_8755-337del (n.8755-340_8755-337del) | ClinVar dbSNP |
| 13 | g.32379412_32379421del | CA2695217948 | BRCA2 | c.8850_8859del (p.Lys2950AsnfsTer23) c.*217_*226del (n.*217_*226del) c.8481_8490del (p.Lys2827AsnfsTer23) c.*412_*421del (n.*412_*421del) c.1317_1326del (p.Lys439AsnfsTer23) n.977_986del c.8858_8867del (n.8858_8867del) c.1728_1737del c.412_421del (n.412_421del) c.8754_8763del (p.Lys2918AsnfsTer23) c.8755-338_8755-329del (n.8755-338_8755-329del) | |
| 13 | g.32379409_32379410delinsGA | CA2082835916 | BRCA2 | c.8847_8848delinsGA (p.Arg2949=) c.*214_*215delinsGA (n.*214_*215delinsGA) c.8478_8479delinsGA (p.Arg2826=) c.*409_*410delinsGA (n.*409_*410delinsGA) c.1314_1315delinsGA (p.Arg438=) n.974_975delinsGA c.8855_8856delinsGA (n.8855_8856delinsGA) c.1725_1726delinsGA c.409_410delinsGA (n.409_410delinsGA) c.8751_8752delinsGA (p.Arg2917=) c.8755-341_8755-340delinsGA (n.8755-341_8755-340delinsGA) | |
| 13 | g.32379410A>C | CA387756267 | BRCA2 | c.8848A>C (p.Lys2950Gln) c.*215A>C (n.*215A>C) c.8479A>C (p.Lys2827Gln) c.*410A>C (n.*410A>C) c.1315A>C (p.Lys439Gln) n.975A>C c.8856A>C (n.8856A>C) c.1726A>C c.410A>C (n.410A>C) c.8752A>C (p.Lys2918Gln) c.8755-340A>C (n.8755-340A>C) | |
| 13 | g.32379410A>G | CA387756262 | BRCA2 | c.8848A>G (p.Lys2950Glu) c.*215A>G (n.*215A>G) c.8479A>G (p.Lys2827Glu) c.*410A>G (n.*410A>G) c.1315A>G (p.Lys439Glu) n.975A>G c.8856A>G (n.8856A>G) c.1726A>G c.410A>G (n.410A>G) c.8752A>G (p.Lys2918Glu) c.8755-340A>G (n.8755-340A>G) | ClinVar |
| 13 | g.32379410A>T | CA387756264 | BRCA2 | c.8848A>T (p.Lys2950Ter) c.*215A>T (n.*215A>T) c.8479A>T (p.Lys2827Ter) c.*410A>T (n.*410A>T) c.1315A>T (p.Lys439Ter) n.975A>T c.8856A>T (n.8856A>T) c.1726A>T c.410A>T (n.410A>T) c.8752A>T (p.Lys2918Ter) c.8755-340A>T (n.8755-340A>T) | dbSNP |
| 13 | g.32379410delinsCT | CA269340 | BRCA2 | c.8848delinsCT (p.Lys2950LeufsTer7) c.*215delinsCT (n.*215delinsCT) c.8479delinsCT (p.Lys2827LeufsTer7) c.*410delinsCT (n.*410delinsCT) c.1315delinsCT (p.Lys439LeufsTer7) n.975delinsCT c.8856delinsCT (n.8856delinsCT) c.1726delinsCT c.410delinsCT (n.410delinsCT) c.8752delinsCT (p.Lys2918LeufsTer7) c.8755-340delinsCT (n.8755-340delinsCT) | ClinVar dbSNP |
| 13 | g.32379411A= | CA2082835923 | BRCA2 | c.8849A= (p.Lys2950=) c.*216A= (n.*216A=) c.8480A= (p.Lys2827=) c.*411A= (n.*411A=) c.1316A= (p.Lys439=) n.976A= c.8857A= (n.8857A=) c.1727A= c.411A= (n.411A=) c.8753A= (p.Lys2918=) c.8755-339A= (n.8755-339A=) | |
| 13 | g.32379411A>C | CA387756268 | BRCA2 | c.8849A>C (p.Lys2950Thr) c.*216A>C (n.*216A>C) c.8480A>C (p.Lys2827Thr) c.*411A>C (n.*411A>C) c.1316A>C (p.Lys439Thr) n.976A>C c.8857A>C (n.8857A>C) c.1727A>C c.411A>C (n.411A>C) c.8753A>C (p.Lys2918Thr) c.8755-339A>C (n.8755-339A>C) | ClinVar dbSNP |
| 13 | g.32379411A>G | CA10579799 | BRCA2 | c.8849A>G (p.Lys2950Arg) c.*216A>G (n.*216A>G) c.8480A>G (p.Lys2827Arg) c.*411A>G (n.*411A>G) c.1316A>G (p.Lys439Arg) n.976A>G c.8857A>G (n.8857A>G) c.1727A>G c.411A>G (n.411A>G) c.8753A>G (p.Lys2918Arg) c.8755-339A>G (n.8755-339A>G) | ClinVar dbSNP |
| 13 | g.32379411A>T | CA387756272 | BRCA2 | c.8849A>T (p.Lys2950Met) c.*216A>T (n.*216A>T) c.8480A>T (p.Lys2827Met) c.*411A>T (n.*411A>T) c.1316A>T (p.Lys439Met) n.976A>T c.8857A>T (n.8857A>T) c.1727A>T c.411A>T (n.411A>T) c.8753A>T (p.Lys2918Met) c.8755-339A>T (n.8755-339A>T) | dbSNP |
| 13 | g.32379412G>A | CA025849 | BRCA2 | c.8850G>A (p.Lys2950=) c.*217G>A (n.*217G>A) c.8481G>A (p.Lys2827=) c.*412G>A (n.*412G>A) c.1317G>A (p.Lys439=) n.977G>A c.8858G>A (n.8858G>A) c.1728G>A c.412G>A (n.412G>A) c.8754G>A (p.Lys2918=) c.8755-338G>A (n.8755-338G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32379412G>C | CA387756275 | BRCA2 | c.8850G>C (p.Lys2950Asn) c.*217G>C (n.*217G>C) c.8481G>C (p.Lys2827Asn) c.*412G>C (n.*412G>C) c.1317G>C (p.Lys439Asn) n.977G>C c.8858G>C (n.8858G>C) c.1728G>C c.412G>C (n.412G>C) c.8754G>C (p.Lys2918Asn) c.8755-338G>C (n.8755-338G>C) | ClinVar dbSNP |
| 13 | g.32379412G= | CA2082835933 | BRCA2 | c.8850G= (p.Lys2950=) c.*217G= (n.*217G=) c.8481G= (p.Lys2827=) c.*412G= (n.*412G=) c.1317G= (p.Lys439=) n.977G= c.8858G= (n.8858G=) c.1728G= c.412G= (n.412G=) c.8754G= (p.Lys2918=) c.8755-338G= (n.8755-338G=) | |
| 13 | g.32379412G>T | CA025850 | BRCA2 | c.8850G>T (p.Lys2950Asn) c.*217G>T (n.*217G>T) c.8481G>T (p.Lys2827Asn) c.*412G>T (n.*412G>T) c.1317G>T (p.Lys439Asn) n.977G>T c.8858G>T (n.8858G>T) c.1728G>T c.412G>T (n.412G>T) c.8754G>T (p.Lys2918Asn) c.8755-338G>T (n.8755-338G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32379412_32379413dup | CA10589520 | BRCA2 | c.8850_8851dup (p.Ala2951GlyfsTer26) c.*217_*218dup (n.*217_*218dup) c.8481_8482dup (p.Ala2828GlyfsTer26) c.*412_*413dup (n.*412_*413dup) c.1317_1318dup (p.Ala440GlyfsTer26) n.977_978dup c.8858_8859dup (n.8858_8859dup) c.1728_1729dup c.412_413dup (n.412_413dup) c.8754_8755dup (p.Ala2919GlyfsTer26) c.8755-338_8755-337dup (n.8755-338_8755-337dup) | ClinVar dbSNP |
| 13 | g.32379413G>A | CA025851 | BRCA2 | c.8851G>A (p.Ala2951Thr) c.*218G>A (n.*218G>A) c.8482G>A (p.Ala2828Thr) c.*413G>A (n.*413G>A) c.1318G>A (p.Ala440Thr) n.978G>A c.8859G>A (n.8859G>A) c.1729G>A c.413G>A (n.413G>A) c.8755G>A (p.Ala2919Thr) c.8755-337G>A (n.8755-337G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32379413G>C | CA387756282 | BRCA2 | c.8851G>C (p.Ala2951Pro) c.*218G>C (n.*218G>C) c.8482G>C (p.Ala2828Pro) c.*413G>C (n.*413G>C) c.1318G>C (p.Ala440Pro) n.978G>C c.8859G>C (n.8859G>C) c.1729G>C c.413G>C (n.413G>C) c.8755G>C (p.Ala2919Pro) c.8755-337G>C (n.8755-337G>C) | ClinVar dbSNP |
| 13 | g.32379413G= | CA2082835960 | BRCA2 | c.8851G= (p.Ala2951=) c.*218G= (n.*218G=) c.8482G= (p.Ala2828=) c.*413G= (n.*413G=) c.1318G= (p.Ala440=) n.978G= c.8859G= (n.8859G=) c.1729G= c.413G= (n.413G=) c.8755G= (p.Ala2919=) c.8755-337G= (n.8755-337G=) | |
| 13 | g.32379413G>T | CA387756284 | BRCA2 | c.8851G>T (p.Ala2951Ser) c.*218G>T (n.*218G>T) c.8482G>T (p.Ala2828Ser) c.*413G>T (n.*413G>T) c.1318G>T (p.Ala440Ser) n.978G>T c.8859G>T (n.8859G>T) c.1729G>T c.413G>T (n.413G>T) c.8755G>T (p.Ala2919Ser) c.8755-337G>T (n.8755-337G>T) | ClinVar dbSNP |
| 13 | g.32379414C>A | CA387756286 | BRCA2 | c.8852C>A (p.Ala2951Asp) c.*219C>A (n.*219C>A) c.8483C>A (p.Ala2828Asp) c.*414C>A (n.*414C>A) c.1319C>A (p.Ala440Asp) n.979C>A c.8860C>A (n.8860C>A) c.1730C>A c.414C>A (n.414C>A) c.8756C>A (p.Ala2919Asp) c.8755-336C>A (n.8755-336C>A) | dbSNP |
| 13 | g.32379414C>G | CA387756288 | BRCA2 | c.8852C>G (p.Ala2951Gly) c.*219C>G (n.*219C>G) c.8483C>G (p.Ala2828Gly) c.*414C>G (n.*414C>G) c.1319C>G (p.Ala440Gly) n.979C>G c.8860C>G (n.8860C>G) c.1730C>G c.414C>G (n.414C>G) c.8756C>G (p.Ala2919Gly) c.8755-336C>G (n.8755-336C>G) | ClinVar |
| 13 | g.32379414C>T | CA387756292 | BRCA2 | c.8852C>T (p.Ala2951Val) c.*219C>T (n.*219C>T) c.8483C>T (p.Ala2828Val) c.*414C>T (n.*414C>T) c.1319C>T (p.Ala440Val) n.979C>T c.8860C>T (n.8860C>T) c.1730C>T c.414C>T (n.414C>T) c.8756C>T (p.Ala2919Val) c.8755-336C>T (n.8755-336C>T) | dbSNP COSMIC COSMIC |
| 13 | g.32379415del | CA2695217949 | BRCA2 | c.8853del (p.Met2952TrpfsTer24) c.*220del (n.*220del) c.8484del (p.Met2829TrpfsTer24) c.*415del (n.*415del) c.1320del (p.Met441TrpfsTer24) n.980del c.8861del (n.8861del) c.1731del c.415del (n.415del) c.8757del (p.Met2920TrpfsTer24) c.8755-335del (n.8755-335del) | |
| 13 | g.32379415C>A | CA025852 | BRCA2 | c.8853C>A (p.Ala2951=) c.*220C>A (n.*220C>A) c.8484C>A (p.Ala2828=) c.*415C>A (n.*415C>A) c.1320C>A (p.Ala440=) n.980C>A c.8861C>A (n.8861C>A) c.1731C>A c.415C>A (n.415C>A) c.8757C>A (p.Ala2919=) c.8755-335C>A (n.8755-335C>A) | ClinVar dbSNP |
| 13 | g.32379415C= | CA2082835967 | BRCA2 | c.8853C= (p.Ala2951=) c.*220C= (n.*220C=) c.8484C= (p.Ala2828=) c.*415C= (n.*415C=) c.1320C= (p.Ala440=) n.980C= c.8861C= (n.8861C=) c.1731C= c.415C= (n.415C=) c.8757C= (p.Ala2919=) c.8755-335C= (n.8755-335C=) | |
| 13 | g.32379415C>G | CA483261963 | BRCA2 | c.8853C>G (p.Ala2951=) c.*220C>G (n.*220C>G) c.8484C>G (p.Ala2828=) c.*415C>G (n.*415C>G) c.1320C>G (p.Ala440=) n.980C>G c.8861C>G (n.8861C>G) c.1731C>G c.415C>G (n.415C>G) c.8757C>G (p.Ala2919=) c.8755-335C>G (n.8755-335C>G) | dbSNP |
| 13 | g.32379415C>T | CA483261962 | BRCA2 | c.8853C>T (p.Ala2951=) c.*220C>T (n.*220C>T) c.8484C>T (p.Ala2828=) c.*415C>T (n.*415C>T) c.1320C>T (p.Ala440=) n.980C>T c.8861C>T (n.8861C>T) c.1731C>T c.415C>T (n.415C>T) c.8757C>T (p.Ala2919=) c.8755-335C>T (n.8755-335C>T) | ClinVar dbSNP |
| 13 | g.32379416A= | CA2082835971 | BRCA2 | c.8854A= (p.Met2952=) c.*221A= (n.*221A=) c.8485A= (p.Met2829=) c.*416A= (n.*416A=) c.1321A= (p.Met441=) n.981A= c.8862A= (n.8862A=) c.1732A= c.416A= (n.416A=) c.8758A= (p.Met2920=) c.8755-334A= (n.8755-334A=) | |
| 13 | g.32379416A>C | CA387756296 | BRCA2 | c.8854A>C (p.Met2952Leu) c.*221A>C (n.*221A>C) c.8485A>C (p.Met2829Leu) c.*416A>C (n.*416A>C) c.1321A>C (p.Met441Leu) n.981A>C c.8862A>C (n.8862A>C) c.1732A>C c.416A>C (n.416A>C) c.8758A>C (p.Met2920Leu) c.8755-334A>C (n.8755-334A>C) | dbSNP |
| 13 | g.32379416A>G | CA025853 | BRCA2 | c.8854A>G (p.Met2952Val) c.*221A>G (n.*221A>G) c.8485A>G (p.Met2829Val) c.*416A>G (n.*416A>G) c.1321A>G (p.Met441Val) n.981A>G c.8862A>G (n.8862A>G) c.1732A>G c.416A>G (n.416A>G) c.8758A>G (p.Met2920Val) c.8755-334A>G (n.8755-334A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32379416A>T | CA387756299 | BRCA2 | c.8854A>T (p.Met2952Leu) c.*221A>T (n.*221A>T) c.8485A>T (p.Met2829Leu) c.*416A>T (n.*416A>T) c.1321A>T (p.Met441Leu) n.981A>T c.8862A>T (n.8862A>T) c.1732A>T c.416A>T (n.416A>T) c.8758A>T (p.Met2920Leu) c.8755-334A>T (n.8755-334A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32379417T>A | CA387756302 | BRCA2 | c.8855T>A (p.Met2952Lys) c.*222T>A (n.*222T>A) c.8486T>A (p.Met2829Lys) c.*417T>A (n.*417T>A) c.1322T>A (p.Met441Lys) n.982T>A c.8863T>A (n.8863T>A) c.1733T>A c.417T>A (n.417T>A) c.8759T>A (p.Met2920Lys) c.8755-333T>A (n.8755-333T>A) | |
| 13 | g.32379417T>C | CA387756304 | BRCA2 | c.8855T>C (p.Met2952Thr) c.*222T>C (n.*222T>C) c.8486T>C (p.Met2829Thr) c.*417T>C (n.*417T>C) c.1322T>C (p.Met441Thr) n.982T>C c.8863T>C (n.8863T>C) c.1733T>C c.417T>C (n.417T>C) c.8759T>C (p.Met2920Thr) c.8755-333T>C (n.8755-333T>C) | ClinVar |
| 13 | g.32379417T>G | CA387756306 | BRCA2 | c.8855T>G (p.Met2952Arg) c.*222T>G (n.*222T>G) c.8486T>G (p.Met2829Arg) c.*417T>G (n.*417T>G) c.1322T>G (p.Met441Arg) n.982T>G c.8863T>G (n.8863T>G) c.1733T>G c.417T>G (n.417T>G) c.8759T>G (p.Met2920Arg) c.8755-333T>G (n.8755-333T>G) | |
| 13 | g.32379419_32379425del | CA2580087464 | BRCA2 | c.8857_8863del (p.Glu2953LeufsTer21) c.*224_*230del (n.*224_*230del) c.8488_8494del (p.Glu2830LeufsTer21) c.*419_*425del (n.*419_*425del) c.1324_1330del (p.Glu442LeufsTer21) n.984_990del c.8865_8871del (n.8865_8871del) c.1735_1741del c.419_425del (n.419_425del) c.8761_8767del (p.Glu2921LeufsTer21) c.8755-331_8755-325del (n.8755-331_8755-325del) | ClinVar |
| 13 | g.32379418G>A | CA387756309 | BRCA2 | c.8856G>A (p.Met2952Ile) c.*223G>A (n.*223G>A) c.8487G>A (p.Met2829Ile) c.*418G>A (n.*418G>A) c.1323G>A (p.Met441Ile) n.983G>A c.8864G>A (n.8864G>A) c.1734G>A c.418G>A (n.418G>A) c.8760G>A (p.Met2920Ile) c.8755-332G>A (n.8755-332G>A) | ClinVar dbSNP |
| 13 | g.32379418G>C | CA387756312 | BRCA2 | c.8856G>C (p.Met2952Ile) c.*223G>C (n.*223G>C) c.8487G>C (p.Met2829Ile) c.*418G>C (n.*418G>C) c.1323G>C (p.Met441Ile) n.983G>C c.8864G>C (n.8864G>C) c.1734G>C c.418G>C (n.418G>C) c.8760G>C (p.Met2920Ile) c.8755-332G>C (n.8755-332G>C) | |
| 13 | g.32379418G>T | CA387756314 | BRCA2 | c.8856G>T (p.Met2952Ile) c.*223G>T (n.*223G>T) c.8487G>T (p.Met2829Ile) c.*418G>T (n.*418G>T) c.1323G>T (p.Met441Ile) n.983G>T c.8864G>T (n.8864G>T) c.1734G>T c.418G>T (n.418G>T) c.8760G>T (p.Met2920Ile) c.8755-332G>T (n.8755-332G>T) | |
| 13 | g.32379419G>A | CA6941305 | BRCA2 | c.8857G>A (p.Glu2953Lys) c.*224G>A (n.*224G>A) c.8488G>A (p.Glu2830Lys) c.*419G>A (n.*419G>A) c.1324G>A (p.Glu442Lys) n.984G>A c.8865G>A (n.8865G>A) c.1735G>A c.419G>A (n.419G>A) c.8761G>A (p.Glu2921Lys) c.8755-331G>A (n.8755-331G>A) | dbSNP ExAC gnomAD v2 |
| 13 | g.32379419G>C | CA387756317 | BRCA2 | c.8857G>C (p.Glu2953Gln) c.*224G>C (n.*224G>C) c.8488G>C (p.Glu2830Gln) c.*419G>C (n.*419G>C) c.1324G>C (p.Glu442Gln) n.984G>C c.8865G>C (n.8865G>C) c.1735G>C c.419G>C (n.419G>C) c.8761G>C (p.Glu2921Gln) c.8755-331G>C (n.8755-331G>C) | dbSNP |
| 13 | g.32379419G= | CA2082835980 | BRCA2 | c.8857G= (p.Glu2953=) c.*224G= (n.*224G=) c.8488G= (p.Glu2830=) c.*419G= (n.*419G=) c.1324G= (p.Glu442=) n.984G= c.8865G= (n.8865G=) c.1735G= c.419G= (n.419G=) c.8761G= (p.Glu2921=) c.8755-331G= (n.8755-331G=) | |
| 13 | g.32379419G>T | CA387756319 | BRCA2 | c.8857G>T (p.Glu2953Ter) c.*224G>T (n.*224G>T) c.8488G>T (p.Glu2830Ter) c.*419G>T (n.*419G>T) c.1324G>T (p.Glu442Ter) n.984G>T c.8865G>T (n.8865G>T) c.1735G>T c.419G>T (n.419G>T) c.8761G>T (p.Glu2921Ter) c.8755-331G>T (n.8755-331G>T) | ClinVar dbSNP |
| 13 | g.32379419_32379420insTA | CA2499222353 | BRCA2 | c.8857_8858insTA (p.Glu2953ValfsTer24) c.*224_*225insTA (n.*224_*225insTA) c.8488_8489insTA (p.Glu2830ValfsTer24) c.*419_*420insTA (n.*419_*420insTA) c.1324_1325insTA (p.Glu442ValfsTer24) n.984_985insTA c.8865_8866insTA (n.8865_8866insTA) c.1735_1736insTA c.419_420insTA (n.419_420insTA) c.8761_8762insTA (p.Glu2921ValfsTer24) c.8755-331_8755-330insTA (n.8755-331_8755-330insTA) | |
| 13 | g.32379420A>C | CA387756321 | BRCA2 | c.8858A>C (p.Glu2953Ala) c.*225A>C (n.*225A>C) c.8489A>C (p.Glu2830Ala) c.*420A>C (n.*420A>C) c.1325A>C (p.Glu442Ala) n.985A>C c.8866A>C (n.8866A>C) c.1736A>C c.420A>C (n.420A>C) c.8762A>C (p.Glu2921Ala) c.8755-330A>C (n.8755-330A>C) | COSMIC COSMIC |