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.32339776_32340004delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | CA2082823130 | BRCA2 | c.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1807=) c.5052_5280delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1684=) n.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | |
13 | g.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
13 | g.32339906del | CA658653678 | BRCA2 | c.5551del (p.Ile1851SerfsTer12) c.5182del (p.Ile1728SerfsTer12) n.5551del | ClinVar dbSNP |
13 | g.32339905_32339906del | CA10589316 | BRCA2 | c.5550_5551del (p.Lys1850AsnfsTer7) c.5181_5182del (p.Lys1727AsnfsTer7) n.5550_5551del | ClinVar dbSNP |
13 | g.32339904_32339921delinsAAATCGTTTGTGTTTCAC | CA2082824453 | BRCA2 | c.5549_5566delinsAAATCGTTTGTGTTTCAC (p.Lys1850=) c.5180_5197delinsAAATCGTTTGTGTTTCAC (p.Lys1727=) n.5549_5566delinsAAATCGTTTGTGTTTCAC | |
13 | g.32339905A>C | CA387785955 | BRCA2 | c.5550A>C (p.Lys1850Asn) c.5181A>C (p.Lys1727Asn) n.5550A>C | |
13 | g.32339905A>G | CA483438547 | BRCA2 | c.5550A>G (p.Lys1850=) c.5181A>G (p.Lys1727=) n.5550A>G | |
13 | g.32339905A>T | CA387785956 | BRCA2 | c.5550A>T (p.Lys1850Asn) c.5181A>T (p.Lys1727Asn) n.5550A>T | dbSNP |
13 | g.32339905_32339921delinsTTGGCT | CA10589317 | BRCA2 | c.5550_5566delinsTTGGCT (p.Lys1850AsnfsTer4) c.5181_5197delinsTTGGCT (p.Lys1727AsnfsTer4) n.5550_5566delinsTTGGCT | ClinVar dbSNP |
13 | g.32339906A= | CA2082824464 | BRCA2 | c.5551A= (p.Ile1851=) c.5182A= (p.Ile1728=) n.5551A= | |
13 | g.32339906A>C | CA387785959 | BRCA2 | c.5551A>C (p.Ile1851Leu) c.5182A>C (p.Ile1728Leu) n.5551A>C | dbSNP |
13 | g.32339906A>G | CA387785958 | BRCA2 | c.5551A>G (p.Ile1851Val) c.5182A>G (p.Ile1728Val) n.5551A>G | dbSNP gnomAD v4 |
13 | g.32339906A>T | CA387785957 | BRCA2 | c.5551A>T (p.Ile1851Phe) c.5182A>T (p.Ile1728Phe) n.5551A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339907T>A | CA387785961 | BRCA2 | c.5552T>A (p.Ile1851Asn) c.5183T>A (p.Ile1728Asn) n.5552T>A | dbSNP |
13 | g.32339907T>C | CA387785960 | BRCA2 | c.5552T>C (p.Ile1851Thr) c.5183T>C (p.Ile1728Thr) n.5552T>C | |
13 | g.32339907T>G | CA022535 | BRCA2 | c.5552T>G (p.Ile1851Ser) c.5183T>G (p.Ile1728Ser) n.5552T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339907T= | CA2082824574 | BRCA2 | c.5552T= (p.Ile1851=) c.5183T= (p.Ile1728=) n.5552T= | |
13 | g.32339908C>A | CA483438641 | BRCA2 | c.5553C>A (p.Ile1851=) c.5184C>A (p.Ile1728=) n.5553C>A | ClinVar dbSNP |
13 | g.32339908C= | CA2082824600 | BRCA2 | c.5553C= (p.Ile1851=) c.5184C= (p.Ile1728=) n.5553C= | |
13 | g.32339908C>G | CA6940885 | BRCA2 | c.5553C>G (p.Ile1851Met) c.5184C>G (p.Ile1728Met) n.5553C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339908C>T | CA022542 | BRCA2 | c.5553C>T (p.Ile1851=) c.5184C>T (p.Ile1728=) n.5553C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32339908_32339915delinsCGTTTGTG | CA2082824599 | BRCA2 | c.5553_5560delinsCGTTTGTG (p.Ile1851=) c.5184_5191delinsCGTTTGTG (p.Ile1728=) n.5553_5560delinsCGTTTGTG | |
13 | g.32339909G>A | CA022546 | BRCA2 | c.5554G>A (p.Val1852Ile) c.5185G>A (p.Val1729Ile) n.5554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339909G>C | CA387785962 | BRCA2 | c.5554G>C (p.Val1852Leu) c.5185G>C (p.Val1729Leu) n.5554G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339909G= | CA2082824610 | BRCA2 | c.5554G= (p.Val1852=) c.5185G= (p.Val1729=) n.5554G= | |
13 | g.32339909G>T | CA022551 | BRCA2 | c.5554G>T (p.Val1852Phe) c.5185G>T (p.Val1729Phe) n.5554G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339909_32339910delinsGT | CA2082824616 | BRCA2 | c.5554_5555delinsGT (p.Val1852=) c.5185_5186delinsGT (p.Val1729=) n.5554_5555delinsGT | |
13 | g.32339909_32339915del | CA10589318 | BRCA2 | c.5554_5560del (p.Val1852PhefsTer9) c.5185_5191del (p.Val1729PhefsTer9) n.5554_5560del | ClinVar dbSNP |
13 | g.32339910T>A | CA022558 | BRCA2 | c.5555T>A (p.Val1852Asp) c.5186T>A (p.Val1729Asp) n.5555T>A | ClinVar dbSNP |
13 | g.32339910T>C | CA387785963 | BRCA2 | c.5555T>C (p.Val1852Ala) c.5186T>C (p.Val1729Ala) n.5555T>C | dbSNP |
13 | g.32339910T>G | CA387785964 | BRCA2 | c.5555T>G (p.Val1852Gly) c.5186T>G (p.Val1729Gly) n.5555T>G | |
13 | g.32339910T= | CA2082824634 | BRCA2 | c.5555T= (p.Val1852=) c.5186T= (p.Val1729=) n.5555T= | |
13 | g.32339912dup | CA10603292 | BRCA2 | c.5557dup (p.Cys1853LeufsTer5) c.5188dup (p.Cys1730LeufsTer5) n.5557dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339912del | CA022568 | BRCA2 | c.5557del (p.Cys1853ValfsTer10) c.5188del (p.Cys1730ValfsTer10) n.5557del | ClinVar dbSNP COSMIC |
13 | g.32339911T>A | CA483438646 | BRCA2 | c.5556T>A (p.Val1852=) c.5187T>A (p.Val1729=) n.5556T>A | dbSNP |
13 | g.32339911T>C | CA483438647 | BRCA2 | c.5556T>C (p.Val1852=) c.5187T>C (p.Val1729=) n.5556T>C | dbSNP |
13 | g.32339911T>G | CA483438648 | BRCA2 | c.5556T>G (p.Val1852=) c.5187T>G (p.Val1729=) n.5556T>G | dbSNP |
13 | g.32339911_32339913delinsTTG | CA2082824645 | BRCA2 | c.5556_5558delinsTTG (p.Val1852=) c.5187_5189delinsTTG (p.Val1729=) n.5556_5558delinsTTG | |
13 | g.32339911_32339912insC | CA2580087611 | BRCA2 | c.5556_5557insC (p.Cys1853LeufsTer5) c.5187_5188insC (p.Cys1730LeufsTer5) n.5556_5557insC | ClinVar |
13 | g.32339912T>A | CA387785967 | BRCA2 | c.5557T>A (p.Cys1853Ser) c.5188T>A (p.Cys1730Ser) n.5557T>A | |
13 | g.32339912T>C | CA387785966 | BRCA2 | c.5557T>C (p.Cys1853Arg) c.5188T>C (p.Cys1730Arg) n.5557T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339912T>G | CA387785965 | BRCA2 | c.5557T>G (p.Cys1853Gly) c.5188T>G (p.Cys1730Gly) n.5557T>G | |
13 | g.32339912T= | CA2082824657 | BRCA2 | c.5557T= (p.Cys1853=) c.5188T= (p.Cys1730=) n.5557T= | |
13 | g.32339912_32339913delinsCT | CA022563 | BRCA2 | c.5557_5558delinsCT (p.Cys1853Leu) c.5188_5189delinsCT (p.Cys1730Leu) n.5557_5558delinsCT | ClinVar dbSNP |
13 | g.32339912_32339913delinsTG | CA2082824653 | BRCA2 | c.5557_5558delinsTG (p.Cys1853=) c.5188_5189delinsTG (p.Cys1730=) n.5557_5558delinsTG | |
13 | g.32339915_32339916del | CA022572 | BRCA2 | c.5560_5561del (p.Val1854PhefsTer3) c.5191_5192del (p.Val1731PhefsTer3) n.5560_5561del | ClinVar dbSNP |
13 | g.32339913del | CA2697551801 | BRCA2 | c.5558del (p.Cys1853LeufsTer10) c.5189del (p.Cys1730LeufsTer10) n.5558del | ClinVar |
13 | g.32339913G>A | CA387785968 | BRCA2 | c.5558G>A (p.Cys1853Tyr) c.5189G>A (p.Cys1730Tyr) n.5558G>A | ClinVar dbSNP |
13 | g.32339913G>C | CA387785969 | BRCA2 | c.5558G>C (p.Cys1853Ser) c.5189G>C (p.Cys1730Ser) n.5558G>C | ClinVar dbSNP |