WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.32379444_32379510delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA | CA2082836144 | BRCA2 | c.8882_8948delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2961=) c.*249_*315delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.*249_*315delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.8513_8579delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2838=) c.*444_*510delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.*444_*510delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.1349_1415delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly450=) n.1009_1075delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA c.8890_8956delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.8890_8956delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.1760_1826delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA c.8786_8852delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2929=) c.8755-306_8755-240delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.8755-306_8755-240delinsGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) | |
| 13 | g.32379445_32379510delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA | CA2082836148 | BRCA2 | c.8883_8948delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2961=) c.*250_*315delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.*250_*315delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.8514_8579delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2838=) c.*445_*510delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.*445_*510delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.1350_1415delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly450=) n.1010_1075delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA c.8891_8956delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.8891_8956delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) c.1761_1826delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA c.8787_8852delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (p.Gly2929=) c.8755-305_8755-240delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA (n.8755-305_8755-240delinsTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA) | |
| 13 | g.32379447_32379512del | CA891843579 | BRCA2 | c.8885_8950del (p.Leu2962_Asp2983del) c.*252_*317del (n.*252_*317del) c.8516_8581del (p.Leu2839_Asp2860del) c.*447_*512del (n.*447_*512del) c.1352_1417del (p.Leu451_Asp472del) n.1012_1077del c.8893_8958del (n.8893_8958del) c.1763_1828del c.8789_8854del (p.Leu2930_Asp2951del) c.8755-303_8755-238del (n.8755-303_8755-238del) | ClinVar dbSNP |
| 13 | g.32379448_32379512del | CA658656406 | BRCA2 | c.8886_8950del (p.Leu2962PhefsTer?) c.*253_*317del (n.*253_*317del) c.8517_8581del (p.Leu2839PhefsTer?) c.*448_*512del (n.*448_*512del) c.8886_8950del (p.Leu2962PhefsTer17) c.1353_1417del (p.Leu451PhefsTer17) n.1013_1077del c.8894_8958del (n.8894_8958del) c.1764_1828del c.8790_8854del (p.Leu2930PhefsTer?) c.8755-302_8755-238del (n.8755-302_8755-238del) | ClinVar dbSNP |
| 13 | g.32379485_32379512del | CA2580087469 | BRCA2 | c.8923_8950del (p.Val2975GlnfsTer4) c.*290_*317del (n.*290_*317del) c.8554_8581del (p.Val2852GlnfsTer4) c.*485_*512del (n.*485_*512del) c.8923_8950del (p.Val2975GlnfsTer27) c.1390_1417del (p.Val464GlnfsTer27) n.1050_1077del c.8931_8958del (n.8931_8958del) c.1801_1828del c.8827_8854del (p.Val2943GlnfsTer4) c.8755-265_8755-238del (n.8755-265_8755-238del) | ClinVar |
| 13 | g.32379489_32379495del | CA2622601798 | BRCA2 | c.8927_8933del (p.Ser2976LysfsTer10) c.*294_*300del (n.*294_*300del) c.8558_8564del (p.Ser2853LysfsTer10) c.*489_*495del (n.*489_*495del) c.8927_8933del (p.Ser2976LysfsTer?) c.1394_1400del (p.Ser465LysfsTer?) n.1054_1060del c.8935_8941del (n.8935_8941del) c.1805_1811del c.489_495del (n.489_495del) c.8831_8837del (p.Ser2944LysfsTer10) c.8755-261_8755-255del (n.8755-261_8755-255del) | gnomAD v4 |
| 13 | g.32379495C>A | CA025877 | BRCA2 | c.8933C>A (p.Ser2978Ter) c.*300C>A (n.*300C>A) c.8564C>A (p.Ser2855Ter) c.*495C>A (n.*495C>A) c.1400C>A (p.Ser467Ter) n.1060C>A c.8941C>A (n.8941C>A) c.1811C>A c.495C>A (n.495C>A) c.8837C>A (p.Ser2946Ter) c.8755-255C>A (n.8755-255C>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32379495C= | CA2082836615 | BRCA2 | c.8933C= (p.Ser2978=) c.*300C= (n.*300C=) c.8564C= (p.Ser2855=) c.*495C= (n.*495C=) c.1400C= (p.Ser467=) n.1060C= c.8941C= (n.8941C=) c.1811C= c.495C= (n.495C=) c.8837C= (p.Ser2946=) c.8755-255C= (n.8755-255C=) | |
| 13 | g.32379495C>G | CA025878 | BRCA2 | c.8933C>G (p.Ser2978Ter) c.*300C>G (n.*300C>G) c.8564C>G (p.Ser2855Ter) c.*495C>G (n.*495C>G) c.1400C>G (p.Ser467Ter) n.1060C>G c.8941C>G (n.8941C>G) c.1811C>G c.495C>G (n.495C>G) c.8837C>G (p.Ser2946Ter) c.8755-255C>G (n.8755-255C>G) | ClinVar dbSNP |
| 13 | g.32379495C>T | CA387757306 | BRCA2 | c.8933C>T (p.Ser2978Leu) c.*300C>T (n.*300C>T) c.8564C>T (p.Ser2855Leu) c.*495C>T (n.*495C>T) c.1400C>T (p.Ser467Leu) n.1060C>T c.8941C>T (n.8941C>T) c.1811C>T c.495C>T (n.495C>T) c.8837C>T (p.Ser2946Leu) c.8755-255C>T (n.8755-255C>T) | |
| 13 | g.32379495_32379496delinsCA | CA2082836610 | BRCA2 | c.8933_8934delinsCA (p.Ser2978=) c.*300_*301delinsCA (n.*300_*301delinsCA) c.8564_8565delinsCA (p.Ser2855=) c.*495_*496delinsCA (n.*495_*496delinsCA) c.1400_1401delinsCA (p.Ser467=) n.1060_1061delinsCA c.8941_8942delinsCA (n.8941_8942delinsCA) c.1811_1812delinsCA c.8837_8838delinsCA (p.Ser2946=) c.8755-255_8755-254delinsCA (n.8755-255_8755-254delinsCA) | |
| 13 | g.32379496A>C | CA483439691 | BRCA2 | c.8934A>C (p.Ser2978=) c.*301A>C (n.*301A>C) c.8565A>C (p.Ser2855=) c.*496A>C (n.*496A>C) c.1401A>C (p.Ser467=) n.1061A>C c.8942A>C (n.8942A>C) c.1812A>C c.8838A>C (p.Ser2946=) c.8755-254A>C (n.8755-254A>C) | dbSNP |
| 13 | g.32379496A>G | CA483439692 | BRCA2 | c.8934A>G (p.Ser2978=) c.*301A>G (n.*301A>G) c.8565A>G (p.Ser2855=) c.*496A>G (n.*496A>G) c.1401A>G (p.Ser467=) n.1061A>G c.8942A>G (n.8942A>G) c.1812A>G c.8838A>G (p.Ser2946=) c.8755-254A>G (n.8755-254A>G) | COSMIC COSMIC |
| 13 | g.32379496A>T | CA483439693 | BRCA2 | c.8934A>T (p.Ser2978=) c.*301A>T (n.*301A>T) c.8565A>T (p.Ser2855=) c.*496A>T (n.*496A>T) c.1401A>T (p.Ser467=) n.1061A>T c.8942A>T (n.8942A>T) c.1812A>T c.8838A>T (p.Ser2946=) c.8755-254A>T (n.8755-254A>T) | dbSNP |
| 13 | g.32379496_32379497delinsC | CA2739277525 | BRCA2 | c.8934_8935delinsC (p.Glu2981LysfsTer7) c.*301_*302delinsC (n.*301_*302delinsC) c.8565_8566delinsC (p.Glu2858LysfsTer7) c.*496_*497delinsC (n.*496_*497delinsC) c.8934_8935delinsC (p.Glu2981LysfsTer?) c.1401_1402delinsC (p.Glu470LysfsTer?) n.1061_1062delinsC c.8942_8943delinsC (n.8942_8943delinsC) c.1812_1813delinsC c.8838_8839delinsC (p.Glu2949LysfsTer7) c.8755-254_8755-253delinsC (n.8755-254_8755-253delinsC) | ClinVar |
| 13 | g.32379502dup | CA025879 | BRCA2 | c.8940dup (p.Glu2981ArgfsTer?) c.*307dup (n.*307dup) c.8571dup (p.Glu2858ArgfsTer?) c.*502dup (n.*502dup) c.8940dup (p.Glu2981ArgfsTer20) c.1407dup (p.Glu470ArgfsTer20) n.1067dup c.8948dup (n.8948dup) c.1818dup c.8844dup (p.Glu2949ArgfsTer?) c.8755-248dup (n.8755-248dup) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32379502del | CA16619785 | BRCA2 | c.8940del (p.Glu2981LysfsTer7) c.*307del (n.*307del) c.8571del (p.Glu2858LysfsTer7) c.*502del (n.*502del) c.8940del (p.Glu2981LysfsTer?) c.1407del (p.Glu470LysfsTer?) n.1067del c.8948del (n.8948del) c.1818del c.8844del (p.Glu2949LysfsTer7) c.8755-248del (n.8755-248del) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 13 | g.32379497A= | CA2082836630 | BRCA2 | c.8935A= (p.Lys2979=) c.*302A= (n.*302A=) c.8566A= (p.Lys2856=) c.*497A= (n.*497A=) c.1402A= (p.Lys468=) n.1062A= c.8943A= (n.8943A=) c.1813A= c.8839A= (p.Lys2947=) c.8755-253A= (n.8755-253A=) | |
| 13 | g.32379497A>C | CA387757308 | BRCA2 | c.8935A>C (p.Lys2979Gln) c.*302A>C (n.*302A>C) c.8566A>C (p.Lys2856Gln) c.*497A>C (n.*497A>C) c.1402A>C (p.Lys468Gln) n.1062A>C c.8943A>C (n.8943A>C) c.1813A>C c.8839A>C (p.Lys2947Gln) c.8755-253A>C (n.8755-253A>C) | ClinVar |
| 13 | g.32379497A>G | CA387757309 | BRCA2 | c.8935A>G (p.Lys2979Glu) c.*302A>G (n.*302A>G) c.8566A>G (p.Lys2856Glu) c.*497A>G (n.*497A>G) c.1402A>G (p.Lys468Glu) n.1062A>G c.8943A>G (n.8943A>G) c.1813A>G c.8839A>G (p.Lys2947Glu) c.8755-253A>G (n.8755-253A>G) | |
| 13 | g.32379497A>T | CA387757307 | BRCA2 | c.8935A>T (p.Lys2979Ter) c.*302A>T (n.*302A>T) c.8566A>T (p.Lys2856Ter) c.*497A>T (n.*497A>T) c.1402A>T (p.Lys468Ter) n.1062A>T c.8943A>T (n.8943A>T) c.1813A>T c.8839A>T (p.Lys2947Ter) c.8755-253A>T (n.8755-253A>T) | ClinVar dbSNP |
| 13 | g.32379498A>C | CA387757310 | BRCA2 | c.8936A>C (p.Lys2979Thr) c.*303A>C (n.*303A>C) c.8567A>C (p.Lys2856Thr) c.*498A>C (n.*498A>C) c.1403A>C (p.Lys468Thr) n.1063A>C c.8944A>C (n.8944A>C) c.1814A>C c.8840A>C (p.Lys2947Thr) c.8755-252A>C (n.8755-252A>C) | |
| 13 | g.32379498A>G | CA387757312 | BRCA2 | c.8936A>G (p.Lys2979Arg) c.*303A>G (n.*303A>G) c.8567A>G (p.Lys2856Arg) c.*498A>G (n.*498A>G) c.1403A>G (p.Lys468Arg) n.1063A>G c.8944A>G (n.8944A>G) c.1814A>G c.8840A>G (p.Lys2947Arg) c.8755-252A>G (n.8755-252A>G) | dbSNP |
| 13 | g.32379498A>T | CA387757311 | BRCA2 | c.8936A>T (p.Lys2979Ile) c.*303A>T (n.*303A>T) c.8567A>T (p.Lys2856Ile) c.*498A>T (n.*498A>T) c.1403A>T (p.Lys468Ile) n.1063A>T c.8944A>T (n.8944A>T) c.1814A>T c.8840A>T (p.Lys2947Ile) c.8755-252A>T (n.8755-252A>T) | |
| 13 | g.32379505_32379510del | CA2580614702 | BRCA2 | c.8943_8948del (p.Glu2981_Lys2982del) c.*310_*315del (n.*310_*315del) c.8574_8579del (p.Glu2858_Lys2859del) c.*505_*510del (n.*505_*510del) c.1410_1415del (p.Glu470_Lys471del) n.1070_1075del c.8951_8956del (n.8951_8956del) c.1821_1826del c.8847_8852del (p.Glu2949_Lys2950del) c.8755-245_8755-240del (n.8755-245_8755-240del) | ClinVar |
| 13 | g.32379499A>C | CA387757313 | BRCA2 | c.8937A>C (p.Lys2979Asn) c.*304A>C (n.*304A>C) c.8568A>C (p.Lys2856Asn) c.*499A>C (n.*499A>C) c.1404A>C (p.Lys468Asn) n.1064A>C c.8945A>C (n.8945A>C) c.1815A>C c.8841A>C (p.Lys2947Asn) c.8755-251A>C (n.8755-251A>C) | |
| 13 | g.32379499A>G | CA483439694 | BRCA2 | c.8937A>G (p.Lys2979=) c.*304A>G (n.*304A>G) c.8568A>G (p.Lys2856=) c.*499A>G (n.*499A>G) c.1404A>G (p.Lys468=) n.1064A>G c.8945A>G (n.8945A>G) c.1815A>G c.8841A>G (p.Lys2947=) c.8755-251A>G (n.8755-251A>G) | |
| 13 | g.32379499A>T | CA387757314 | BRCA2 | c.8937A>T (p.Lys2979Asn) c.*304A>T (n.*304A>T) c.8568A>T (p.Lys2856Asn) c.*499A>T (n.*499A>T) c.1404A>T (p.Lys468Asn) n.1064A>T c.8945A>T (n.8945A>T) c.1815A>T c.8841A>T (p.Lys2947Asn) c.8755-251A>T (n.8755-251A>T) | |
| 13 | g.32379499_32379503delinsAAAAG | CA2082836639 | BRCA2 | c.8937_8941delinsAAAAG (p.Lys2979=) c.*304_*308delinsAAAAG (n.*304_*308delinsAAAAG) c.8568_8572delinsAAAAG (p.Lys2856=) c.*499_*503delinsAAAAG (n.*499_*503delinsAAAAG) c.1404_1408delinsAAAAG (p.Lys468=) n.1064_1068delinsAAAAG c.8945_8949delinsAAAAG (n.8945_8949delinsAAAAG) c.1815_1819delinsAAAAG c.8841_8845delinsAAAAG (p.Lys2947=) c.8755-251_8755-247delinsAAAAG (n.8755-251_8755-247delinsAAAAG) | |
| 13 | g.32379503_32379507del | CA2580087472 | BRCA2 | c.8941_8945del (p.Glu2981ArgfsTer?) c.*308_*312del (n.*308_*312del) c.8572_8576del (p.Glu2858ArgfsTer?) c.*503_*507del (n.*503_*507del) c.8941_8945del (p.Glu2981ArgfsTer18) c.1408_1412del (p.Glu470ArgfsTer18) n.1068_1072del c.8949_8953del (n.8949_8953del) c.1819_1823del c.8845_8849del (p.Glu2949ArgfsTer?) c.8755-247_8755-243del (n.8755-247_8755-243del) | ClinVar |
| 13 | g.32379500A= | CA2082836651 | BRCA2 | c.8938A= (p.Lys2980=) c.*305A= (n.*305A=) c.8569A= (p.Lys2857=) c.*500A= (n.*500A=) c.1405A= (p.Lys469=) n.1065A= c.8946A= (n.8946A=) c.1816A= c.8842A= (p.Lys2948=) c.8755-250A= (n.8755-250A=) | |
| 13 | g.32379500A>C | CA387757315 | BRCA2 | c.8938A>C (p.Lys2980Gln) c.*305A>C (n.*305A>C) c.8569A>C (p.Lys2857Gln) c.*500A>C (n.*500A>C) c.1405A>C (p.Lys469Gln) n.1065A>C c.8946A>C (n.8946A>C) c.1816A>C c.8842A>C (p.Lys2948Gln) c.8755-250A>C (n.8755-250A>C) | |
| 13 | g.32379500A>G | CA387757316 | BRCA2 | c.8938A>G (p.Lys2980Glu) c.*305A>G (n.*305A>G) c.8569A>G (p.Lys2857Glu) c.*500A>G (n.*500A>G) c.1405A>G (p.Lys469Glu) n.1065A>G c.8946A>G (n.8946A>G) c.1816A>G c.8842A>G (p.Lys2948Glu) c.8755-250A>G (n.8755-250A>G) | |
| 13 | g.32379500A>T | CA10589527 | BRCA2 | c.8938A>T (p.Lys2980Ter) c.*305A>T (n.*305A>T) c.8569A>T (p.Lys2857Ter) c.*500A>T (n.*500A>T) c.1405A>T (p.Lys469Ter) n.1065A>T c.8946A>T (n.8946A>T) c.1816A>T c.8842A>T (p.Lys2948Ter) c.8755-250A>T (n.8755-250A>T) | ClinVar dbSNP |
| 13 | g.32379503_32379506del | CA915948614 | BRCA2 | c.8941_8944del (p.Glu2981LysfsTer6) c.*308_*311del (n.*308_*311del) c.8572_8575del (p.Glu2858LysfsTer6) c.*503_*506del (n.*503_*506del) c.8941_8944del (p.Glu2981LysfsTer29) c.1408_1411del (p.Glu470LysfsTer29) n.1068_1071del c.8949_8952del (n.8949_8952del) c.1819_1822del c.8845_8848del (p.Glu2949LysfsTer6) c.8755-247_8755-244del (n.8755-247_8755-244del) | ClinVar dbSNP |
| 13 | g.32379501A>C | CA387757317 | BRCA2 | c.8939A>C (p.Lys2980Thr) c.*306A>C (n.*306A>C) c.8570A>C (p.Lys2857Thr) c.*501A>C (n.*501A>C) c.1406A>C (p.Lys469Thr) n.1066A>C c.8947A>C (n.8947A>C) c.1817A>C c.8843A>C (p.Lys2948Thr) c.8755-249A>C (n.8755-249A>C) | |
| 13 | g.32379501A>G | CA387757318 | BRCA2 | c.8939A>G (p.Lys2980Arg) c.*306A>G (n.*306A>G) c.8570A>G (p.Lys2857Arg) c.*501A>G (n.*501A>G) c.1406A>G (p.Lys469Arg) n.1066A>G c.8947A>G (n.8947A>G) c.1817A>G c.8843A>G (p.Lys2948Arg) c.8755-249A>G (n.8755-249A>G) | |
| 13 | g.32379501A>T | CA387757319 | BRCA2 | c.8939A>T (p.Lys2980Ile) c.*306A>T (n.*306A>T) c.8570A>T (p.Lys2857Ile) c.*501A>T (n.*501A>T) c.1406A>T (p.Lys469Ile) n.1066A>T c.8947A>T (n.8947A>T) c.1817A>T c.8843A>T (p.Lys2948Ile) c.8755-249A>T (n.8755-249A>T) | |
| 13 | g.32379501_32379503delinsAAG | CA2082836660 | BRCA2 | c.8939_8941delinsAAG (p.Lys2980=) c.*306_*308delinsAAG (n.*306_*308delinsAAG) c.8570_8572delinsAAG (p.Lys2857=) c.*501_*503delinsAAG (n.*501_*503delinsAAG) c.1406_1408delinsAAG (p.Lys469=) n.1066_1068delinsAAG c.8947_8949delinsAAG (n.8947_8949delinsAAG) c.1817_1819delinsAAG c.8843_8845delinsAAG (p.Lys2948=) c.8755-249_8755-247delinsAAG (n.8755-249_8755-247delinsAAG) | |
| 13 | g.32379502A>C | CA387757320 | BRCA2 | c.8940A>C (p.Lys2980Asn) c.*307A>C (n.*307A>C) c.8571A>C (p.Lys2857Asn) c.*502A>C (n.*502A>C) c.1407A>C (p.Lys469Asn) n.1067A>C c.8948A>C (n.8948A>C) c.1818A>C c.8844A>C (p.Lys2948Asn) c.8755-248A>C (n.8755-248A>C) | |
| 13 | g.32379502A>G | CA483439696 | BRCA2 | c.8940A>G (p.Lys2980=) c.*307A>G (n.*307A>G) c.8571A>G (p.Lys2857=) c.*502A>G (n.*502A>G) c.1407A>G (p.Lys469=) n.1067A>G c.8948A>G (n.8948A>G) c.1818A>G c.8844A>G (p.Lys2948=) c.8755-248A>G (n.8755-248A>G) | ClinVar dbSNP |
| 13 | g.32379502A>T | CA387757321 | BRCA2 | c.8940A>T (p.Lys2980Asn) c.*307A>T (n.*307A>T) c.8571A>T (p.Lys2857Asn) c.*502A>T (n.*502A>T) c.1407A>T (p.Lys469Asn) n.1067A>T c.8948A>T (n.8948A>T) c.1818A>T c.8844A>T (p.Lys2948Asn) c.8755-248A>T (n.8755-248A>T) | |
| 13 | g.32379502_32379503delinsAG | CA2082836667 | BRCA2 | c.8940_8941delinsAG (p.Lys2980=) c.*307_*308delinsAG (n.*307_*308delinsAG) c.8571_8572delinsAG (p.Lys2857=) c.*502_*503delinsAG (n.*502_*503delinsAG) c.1407_1408delinsAG (p.Lys469=) n.1067_1068delinsAG c.8948_8949delinsAG (n.8948_8949delinsAG) c.1818_1819delinsAG c.8844_8845delinsAG (p.Lys2948=) c.8755-248_8755-247delinsAG (n.8755-248_8755-247delinsAG) | |
| 13 | g.32379503_32379504del | CA10589529 | BRCA2 | c.8941_8942del (p.Glu2981LysfsTer?) c.*308_*309del (n.*308_*309del) c.8572_8573del (p.Glu2858LysfsTer?) c.*503_*504del (n.*503_*504del) c.8941_8942del (p.Glu2981LysfsTer19) c.1408_1409del (p.Glu470LysfsTer19) n.1068_1069del c.8949_8950del (n.8949_8950del) c.1819_1820del c.8845_8846del (p.Glu2949LysfsTer?) c.8755-247_8755-246del (n.8755-247_8755-246del) | ClinVar dbSNP |
| 13 | g.32379503del | CA10589530 | BRCA2 | c.8941del (p.Glu2981LysfsTer7) c.*308del (n.*308del) c.8572del (p.Glu2858LysfsTer7) c.*503del (n.*503del) c.8941del (p.Glu2981LysfsTer30) c.1408del (p.Glu470LysfsTer30) n.1068del c.8949del (n.8949del) c.1819del c.8845del (p.Glu2949LysfsTer7) c.8755-247del (n.8755-247del) | ClinVar dbSNP |
| 13 | g.32379503G>A | CA025880 | BRCA2 | c.8941G>A (p.Glu2981Lys) c.*308G>A (n.*308G>A) c.8572G>A (p.Glu2858Lys) c.*503G>A (n.*503G>A) c.1408G>A (p.Glu470Lys) n.1068G>A c.8949G>A (n.8949G>A) c.1819G>A c.8845G>A (p.Glu2949Lys) c.8755-247G>A (n.8755-247G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |