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.32339693_32339699del | CA2727931026 | BRCA2 | c.5338_5344del (p.Glu1780LysfsTer9) c.4969_4975del (p.Glu1657LysfsTer9) n.5338_5344del | dbSNP |
13 | g.32339698_32339699delinsTC | CA2082822127 | BRCA2 | c.5343_5344delinsTC (p.Asp1781=) c.4974_4975delinsTC (p.Asp1658=) n.5343_5344delinsTC | |
13 | g.32339698_32339700delinsTCA | CA2082822119 | BRCA2 | c.5343_5345delinsTCA (p.Asp1781=) c.4974_4976delinsTCA (p.Asp1658=) n.5343_5345delinsTCA | |
13 | g.32339699del | CA658823649 | BRCA2 | c.5344del (p.Gln1782LysfsTer9) c.4975del (p.Gln1659LysfsTer9) n.5344del | ClinVar dbSNP |
13 | g.32339699C>A | CA022062 | BRCA2 | c.5344C>A (p.Gln1782Lys) c.4975C>A (p.Gln1659Lys) n.5344C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339699C= | CA2082822149 | BRCA2 | c.5344C= (p.Gln1782=) c.4975C= (p.Gln1659=) n.5344C= | |
13 | g.32339699C>G | CA022069 | BRCA2 | c.5344C>G (p.Gln1782Glu) c.4975C>G (p.Gln1659Glu) n.5344C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339699C>T | CA022075 | BRCA2 | c.5344C>T (p.Gln1782Ter) c.4975C>T (p.Gln1659Ter) n.5344C>T | ClinVar dbSNP |
13 | g.32339699_32339700del | CA022055 | BRCA2 | c.5344_5345del (p.Gln1782LysfsTer4) c.4975_4976del (p.Gln1659LysfsTer4) n.5344_5345del | ClinVar dbSNP |
13 | g.32339699_32339702delinsCAAA | CA2082822146 | BRCA2 | c.5344_5347delinsCAAA (p.Gln1782=) c.4975_4978delinsCAAA (p.Gln1659=) n.5344_5347delinsCAAA | |
13 | g.32339700A= | CA2082822198 | BRCA2 | c.5345A= (p.Gln1782=) c.4976A= (p.Gln1659=) n.5345A= | |
13 | g.32339700A>C | CA022082 | BRCA2 | c.5345A>C (p.Gln1782Pro) c.4976A>C (p.Gln1659Pro) n.5345A>C | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32339700A>G | CA10575922 | BRCA2 | c.5345A>G (p.Gln1782Arg) c.4976A>G (p.Gln1659Arg) n.5345A>G | ClinVar dbSNP |
13 | g.32339700A>T | CA387785006 | BRCA2 | c.5345A>T (p.Gln1782Leu) c.4976A>T (p.Gln1659Leu) n.5345A>T | |
13 | g.32339706dup | CA022104 | BRCA2 | c.5351dup (p.Asn1784LysfsTer3) c.4982dup (p.Asn1661LysfsTer3) n.5351dup | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
13 | g.32339705_32339706dup | CA10589310 | BRCA2 | c.5350_5351dup (p.Asn1784LysfsTer8) c.4981_4982dup (p.Asn1661LysfsTer8) n.5350_5351dup | ClinVar dbSNP |
13 | g.32339706del | CA022110 | BRCA2 | c.5351del (p.Asn1784ThrfsTer7) c.4982del (p.Asn1661ThrfsTer7) n.5351del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339705_32339706del | CA022093 | BRCA2 | c.5350_5351del (p.Asn1784HisfsTer2) c.4981_4982del (p.Asn1661HisfsTer2) n.5350_5351del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339704_32339706del | CA658653676 | BRCA2 | c.5349_5351del (p.Lys1783del) c.4980_4982del (p.Lys1660del) n.5349_5351del | ClinVar dbSNP |
13 | g.32339701A>C | CA387785009 | BRCA2 | c.5346A>C (p.Gln1782His) c.4977A>C (p.Gln1659His) n.5346A>C | |
13 | g.32339701A>G | CA483438629 | BRCA2 | c.5346A>G (p.Gln1782=) c.4977A>G (p.Gln1659=) n.5346A>G | ClinVar dbSNP |
13 | g.32339701A>T | CA387785012 | BRCA2 | c.5346A>T (p.Gln1782His) c.4977A>T (p.Gln1659His) n.5346A>T | dbSNP |
13 | g.32339702A= | CA2082822261 | BRCA2 | c.5347A= (p.Lys1783=) c.4978A= (p.Lys1660=) n.5347A= | |
13 | g.32339702A>C | CA387785016 | BRCA2 | c.5347A>C (p.Lys1783Gln) c.4978A>C (p.Lys1660Gln) n.5347A>C | |
13 | g.32339702A>G | CA387785018 | BRCA2 | c.5347A>G (p.Lys1783Glu) c.4978A>G (p.Lys1660Glu) n.5347A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339702A>T | CA387785020 | BRCA2 | c.5347A>T (p.Lys1783Ter) c.4978A>T (p.Lys1660Ter) n.5347A>T | dbSNP |
13 | g.32339703A>C | CA387785022 | BRCA2 | c.5348A>C (p.Lys1783Thr) c.4979A>C (p.Lys1660Thr) n.5348A>C | |
13 | g.32339703A>G | CA387785024 | BRCA2 | c.5348A>G (p.Lys1783Arg) c.4979A>G (p.Lys1660Arg) n.5348A>G | dbSNP |
13 | g.32339703A>T | CA387785026 | BRCA2 | c.5348A>T (p.Lys1783Ile) c.4979A>T (p.Lys1660Ile) n.5348A>T | ClinVar dbSNP |
13 | g.32339703_32339707delinsAAAAC | CA2082822263 | BRCA2 | c.5348_5352delinsAAAAC (p.Lys1783=) c.4979_4983delinsAAAAC (p.Lys1660=) n.5348_5352delinsAAAAC | |
13 | g.32339704A>C | CA387785030 | BRCA2 | c.5349A>C (p.Lys1783Asn) c.4980A>C (p.Lys1660Asn) n.5349A>C | |
13 | g.32339704A>G | CA483438631 | BRCA2 | c.5349A>G (p.Lys1783=) c.4980A>G (p.Lys1660=) n.5349A>G | ClinVar dbSNP |
13 | g.32339704A>T | CA387785028 | BRCA2 | c.5349A>T (p.Lys1783Asn) c.4980A>T (p.Lys1660Asn) n.5349A>T | dbSNP |
13 | g.32339704_32339706delinsAAA | CA2082822270 | BRCA2 | c.5349_5351delinsAAA (p.Lys1783=) c.4980_4982delinsAAA (p.Lys1660=) n.5349_5351delinsAAA | |
13 | g.32339705_32339708del | CA916079956 | BRCA2 | c.5350_5353del (p.Asn1784LeufsTer6) c.4981_4984del (p.Asn1661LeufsTer6) n.5350_5353del | ClinVar dbSNP |
13 | g.32339705A= | CA2082822277 | BRCA2 | c.5350A= (p.Asn1784=) c.4981A= (p.Asn1661=) n.5350A= | |
13 | g.32339705A>C | CA387785038 | BRCA2 | c.5350A>C (p.Asn1784His) c.4981A>C (p.Asn1661His) n.5350A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339705A>G | CA387785035 | BRCA2 | c.5350A>G (p.Asn1784Asp) c.4981A>G (p.Asn1661Asp) n.5350A>G | gnomAD v4 |
13 | g.32339705A>T | CA387785033 | BRCA2 | c.5350A>T (p.Asn1784Tyr) c.4981A>T (p.Asn1661Tyr) n.5350A>T | |
13 | g.32339705_32339706delinsT | CA022100 | BRCA2 | c.5350_5351delinsT (p.Asn1784SerfsTer7) c.4981_4982delinsT (p.Asn1661SerfsTer7) n.5350_5351delinsT | ClinVar dbSNP |
13 | g.32339705_32339707delinsAAC | CA2082822275 | BRCA2 | c.5350_5352delinsAAC (p.Asn1784=) c.4981_4983delinsAAC (p.Asn1661=) n.5350_5352delinsAAC | |
13 | g.32339706A= | CA2082822296 | BRCA2 | c.5351A= (p.Asn1784=) c.4982A= (p.Asn1661=) n.5351A= | |
13 | g.32339706A>C | CA387785045 | BRCA2 | c.5351A>C (p.Asn1784Thr) c.4982A>C (p.Asn1661Thr) n.5351A>C | ClinVar dbSNP |
13 | g.32339706A>G | CA387785042 | BRCA2 | c.5351A>G (p.Asn1784Ser) c.4982A>G (p.Asn1661Ser) n.5351A>G | ClinVar dbSNP |
13 | g.32339706A>T | CA387785044 | BRCA2 | c.5351A>T (p.Asn1784Ile) c.4982A>T (p.Asn1661Ile) n.5351A>T | ClinVar dbSNP |
13 | g.32339706_32339707delinsAC | CA2082822291 | BRCA2 | c.5351_5352delinsAC (p.Asn1784=) c.4982_4983delinsAC (p.Asn1661=) n.5351_5352delinsAC | |
13 | g.32339708_32339709del | CA022123 | BRCA2 | c.5353_5354del (p.Thr1785Ter) c.4984_4985del (p.Thr1662Ter) n.5353_5354del | ClinVar dbSNP |
13 | g.32339707del | CA022119 | BRCA2 | c.5352del (p.Asn1784LysfsTer7) c.4983del (p.Asn1661LysfsTer7) n.5352del | ClinVar dbSNP |
13 | g.32339707C>A | CA387785047 | BRCA2 | c.5352C>A (p.Asn1784Lys) c.4983C>A (p.Asn1661Lys) n.5352C>A | ClinVar dbSNP gnomAD v4 |