Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32339741_32339748del | CA2580087363 | BRCA2 | c.5386_5393del (p.Asp1796CysfsTer8) c.5017_5024del (p.Asp1673CysfsTer8) n.5386_5393del | ClinVar |
13 | g.32339739_32339741delinsAAG | CA2082822714 | BRCA2 | c.5384_5386delinsAAG (p.Lys1795=) c.5015_5017delinsAAG (p.Lys1672=) n.5384_5386delinsAAG | |
13 | g.32339740_32339741delinsAG | CA2082822741 | BRCA2 | c.5385_5386delinsAG (p.Lys1795=) c.5016_5017delinsAG (p.Lys1672=) n.5385_5386delinsAG | |
13 | g.32339741_32339742del | CA022186 | BRCA2 | c.5386_5387del (p.Asp1796CysfsTer10) c.5017_5018del (p.Asp1673CysfsTer10) n.5386_5387del | ClinVar dbSNP |
13 | g.32339741del | CA022191 | BRCA2 | c.5386del (p.Asp1796MetfsTer9) c.5017del (p.Asp1673MetfsTer9) n.5386del | ClinVar dbSNP |
13 | g.32339741G>A | CA387785235 | BRCA2 | c.5386G>A (p.Asp1796Asn) c.5017G>A (p.Asp1673Asn) n.5386G>A | ClinVar dbSNP |
13 | g.32339741G>C | CA387785238 | BRCA2 | c.5386G>C (p.Asp1796His) c.5017G>C (p.Asp1673His) n.5386G>C | dbSNP |
13 | g.32339741G= | CA2082822752 | BRCA2 | c.5386G= (p.Asp1796=) c.5017G= (p.Asp1673=) n.5386G= | |
13 | g.32339741G>T | CA16619723 | BRCA2 | c.5386G>T (p.Asp1796Tyr) c.5017G>T (p.Asp1673Tyr) n.5386G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339742A= | CA2082822767 | BRCA2 | c.5387A= (p.Asp1796=) c.5018A= (p.Asp1673=) n.5387A= | |
13 | g.32339742A>C | CA387785249 | BRCA2 | c.5387A>C (p.Asp1796Ala) c.5018A>C (p.Asp1673Ala) n.5387A>C | |
13 | g.32339742A>G | CA387785244 | BRCA2 | c.5387A>G (p.Asp1796Gly) c.5018A>G (p.Asp1673Gly) n.5387A>G | |
13 | g.32339742A>T | CA387785246 | BRCA2 | c.5387A>T (p.Asp1796Val) c.5018A>T (p.Asp1673Val) n.5387A>T | dbSNP |
13 | g.32339743del | CA2499222195 | BRCA2 | c.5388del (p.Asp1796GlufsTer9) c.5019del (p.Asp1673GlufsTer9) n.5388del | |
13 | g.32339743T>A | CA387785251 | BRCA2 | c.5388T>A (p.Asp1796Glu) c.5019T>A (p.Asp1673Glu) n.5388T>A | dbSNP |
13 | g.32339743T>C | CA483438684 | BRCA2 | c.5388T>C (p.Asp1796=) c.5019T>C (p.Asp1673=) n.5388T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339743T>G | CA387785253 | BRCA2 | c.5388T>G (p.Asp1796Glu) c.5019T>G (p.Asp1673Glu) n.5388T>G | dbSNP |
13 | g.32339743T= | CA2082822778 | BRCA2 | c.5388T= (p.Asp1796=) c.5019T= (p.Asp1673=) n.5388T= | |
13 | g.32339743dup | CA891844235 | BRCA2 | c.5388dup (p.Ala1797CysfsTer10) c.5019dup (p.Ala1674CysfsTer10) n.5388dup | ClinVar dbSNP |
13 | g.32339743_32339745delinsTGC | CA2082822775 | BRCA2 | c.5388_5390delinsTGC (p.Asp1796=) c.5019_5021delinsTGC (p.Asp1673=) n.5388_5390delinsTGC | |
13 | g.32339744G>A | CA387785257 | BRCA2 | c.5389G>A (p.Ala1797Thr) c.5020G>A (p.Ala1674Thr) n.5389G>A | dbSNP |
13 | g.32339744G>C | CA387785260 | BRCA2 | c.5389G>C (p.Ala1797Pro) c.5020G>C (p.Ala1674Pro) n.5389G>C | dbSNP |
13 | g.32339744G>T | CA387785262 | BRCA2 | c.5389G>T (p.Ala1797Ser) c.5020G>T (p.Ala1674Ser) n.5389G>T | |
13 | g.32339744_32339745del | CA022198 | BRCA2 | c.5389_5390del (p.Ala1797LysfsTer9) c.5020_5021del (p.Ala1674LysfsTer9) n.5389_5390del | ClinVar dbSNP |
13 | g.32339744_32339745delinsGC | CA2082822802 | BRCA2 | c.5389_5390delinsGC (p.Ala1797=) c.5020_5021delinsGC (p.Ala1674=) n.5389_5390delinsGC | |
13 | g.32339745del | CA022210 | BRCA2 | c.5390del (p.Ala1797GlufsTer8) c.5021del (p.Ala1674GlufsTer8) n.5390del | ClinVar dbSNP |
13 | g.32339745C>A | CA387785268 | BRCA2 | c.5390C>A (p.Ala1797Glu) c.5021C>A (p.Ala1674Glu) n.5390C>A | dbSNP |
13 | g.32339745C= | CA2082822814 | BRCA2 | c.5390C= (p.Ala1797=) c.5021C= (p.Ala1674=) n.5390C= | |
13 | g.32339745C>G | CA022204 | BRCA2 | c.5390C>G (p.Ala1797Gly) c.5021C>G (p.Ala1674Gly) n.5390C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339745C>T | CA387785264 | BRCA2 | c.5390C>T (p.Ala1797Val) c.5021C>T (p.Ala1674Val) n.5390C>T | dbSNP |
13 | g.32339746A>C | CA483438688 | BRCA2 | c.5391A>C (p.Ala1797=) c.5022A>C (p.Ala1674=) n.5391A>C | |
13 | g.32339746A>G | CA483438689 | BRCA2 | c.5391A>G (p.Ala1797=) c.5022A>G (p.Ala1674=) n.5391A>G | ClinVar dbSNP |
13 | g.32339746A>T | CA483438690 | BRCA2 | c.5391A>T (p.Ala1797=) c.5022A>T (p.Ala1674=) n.5391A>T | dbSNP |
13 | g.32339747A= | CA2082822819 | BRCA2 | c.5392A= (p.Asn1798=) c.5023A= (p.Asn1675=) n.5392A= | |
13 | g.32339747A>C | CA387785270 | BRCA2 | c.5392A>C (p.Asn1798His) c.5023A>C (p.Asn1675His) n.5392A>C | |
13 | g.32339747A>G | CA387785272 | BRCA2 | c.5392A>G (p.Asn1798Asp) c.5023A>G (p.Asn1675Asp) n.5392A>G | ClinVar dbSNP |
13 | g.32339747A>T | CA387785274 | BRCA2 | c.5392A>T (p.Asn1798Tyr) c.5023A>T (p.Asn1675Tyr) n.5392A>T | dbSNP |
13 | g.32339748A= | CA2082822824 | BRCA2 | c.5393A= (p.Asn1798=) c.5024A= (p.Asn1675=) n.5393A= | |
13 | g.32339748A>C | CA387785277 | BRCA2 | c.5393A>C (p.Asn1798Thr) c.5024A>C (p.Asn1675Thr) n.5393A>C | |
13 | g.32339748A>G | CA387785280 | BRCA2 | c.5393A>G (p.Asn1798Ser) c.5024A>G (p.Asn1675Ser) n.5393A>G | ClinVar dbSNP |
13 | g.32339748A>T | CA387785282 | BRCA2 | c.5393A>T (p.Asn1798Ile) c.5024A>T (p.Asn1675Ile) n.5393A>T | |
13 | g.32339749T>A | CA387785284 | BRCA2 | c.5394T>A (p.Asn1798Lys) c.5025T>A (p.Asn1675Lys) n.5394T>A | dbSNP |
13 | g.32339749T>C | CA022216 | BRCA2 | c.5394T>C (p.Asn1798=) c.5025T>C (p.Asn1675=) n.5394T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339749T>G | CA387785286 | BRCA2 | c.5394T>G (p.Asn1798Lys) c.5025T>G (p.Asn1675Lys) n.5394T>G | dbSNP |
13 | g.32339749T= | CA2082822836 | BRCA2 | c.5394T= (p.Asn1798=) c.5025T= (p.Asn1675=) n.5394T= | |
13 | g.32339750G>A | CA387785289 | BRCA2 | c.5395G>A (p.Ala1799Thr) c.5026G>A (p.Ala1676Thr) n.5395G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339750G>C | CA387785292 | BRCA2 | c.5395G>C (p.Ala1799Pro) c.5026G>C (p.Ala1676Pro) n.5395G>C | dbSNP |
13 | g.32339750G>T | CA387785295 | BRCA2 | c.5395G>T (p.Ala1799Ser) c.5026G>T (p.Ala1676Ser) n.5395G>T | ClinVar dbSNP |
13 | g.32339751C>A | CA387785298 | BRCA2 | c.5396C>A (p.Ala1799Glu) c.5027C>A (p.Ala1676Glu) n.5396C>A | dbSNP |