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.32339898_32339904del | CA2697551800 | BRCA2 | c.5543_5549del (p.Ser1848LysfsTer13) c.5174_5180del (p.Ser1725LysfsTer13) n.5543_5549del | ClinVar |
13 | g.32339900G>A | CA387785944 | BRCA2 | c.5545G>A (p.Gly1849Ser) c.5176G>A (p.Gly1726Ser) n.5545G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339900G>C | CA387785945 | BRCA2 | c.5545G>C (p.Gly1849Arg) c.5176G>C (p.Gly1726Arg) n.5545G>C | dbSNP |
13 | g.32339900G= | CA2082824406 | BRCA2 | c.5545G= (p.Gly1849=) c.5176G= (p.Gly1726=) n.5545G= | |
13 | g.32339900G>T | CA387785946 | BRCA2 | c.5545G>T (p.Gly1849Cys) c.5176G>T (p.Gly1726Cys) n.5545G>T | dbSNP |
13 | g.32339900_32339901delinsAA | CA915948493 | BRCA2 | c.5545_5546delinsAA (p.Gly1849Asn) c.5176_5177delinsAA (p.Gly1726Asn) n.5545_5546delinsAA | ClinVar dbSNP |
13 | g.32339900_32339901delinsGG | CA2082824402 | BRCA2 | c.5545_5546delinsGG (p.Gly1849=) c.5176_5177delinsGG (p.Gly1726=) n.5545_5546delinsGG | |
13 | g.32339901del | CA2727914850 | BRCA2 | c.5546del (p.Gly1849ValfsTer14) c.5177del (p.Gly1726ValfsTer14) n.5546del | dbSNP |
13 | g.32339901G>A | CA6940884 | BRCA2 | c.5546G>A (p.Gly1849Asp) c.5177G>A (p.Gly1726Asp) n.5546G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339901G>C | CA387785947 | BRCA2 | c.5546G>C (p.Gly1849Ala) c.5177G>C (p.Gly1726Ala) n.5546G>C | ClinVar dbSNP |
13 | g.32339901G= | CA2082824415 | BRCA2 | c.5546G= (p.Gly1849=) c.5177G= (p.Gly1726=) n.5546G= | |
13 | g.32339901G>T | CA387785948 | BRCA2 | c.5546G>T (p.Gly1849Val) c.5177G>T (p.Gly1726Val) n.5546G>T | dbSNP |
13 | g.32339901_32339903delinsGTA | CA2082824423 | BRCA2 | c.5546_5548delinsGTA (p.Gly1849=) c.5177_5179delinsGTA (p.Gly1726=) n.5546_5548delinsGTA | |
13 | g.32339902T>A | CA483438546 | BRCA2 | c.5547T>A (p.Gly1849=) c.5178T>A (p.Gly1726=) n.5547T>A | |
13 | g.32339902T>C | CA483438545 | BRCA2 | c.5547T>C (p.Gly1849=) c.5178T>C (p.Gly1726=) n.5547T>C | |
13 | g.32339902T>G | CA022527 | BRCA2 | c.5547T>G (p.Gly1849=) c.5178T>G (p.Gly1726=) n.5547T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339902T= | CA2082824440 | BRCA2 | c.5547T= (p.Gly1849=) c.5178T= (p.Gly1726=) n.5547T= | |
13 | g.32339902_32339903del | CA915948494 | BRCA2 | c.5547_5548del (p.Lys1850AsnfsTer7) c.5178_5179del (p.Lys1727AsnfsTer7) n.5547_5548del | ClinVar dbSNP |
13 | g.32339902_32339904delinsTAA | CA2082824437 | BRCA2 | c.5547_5549delinsTAA (p.Gly1849=) c.5178_5180delinsTAA (p.Gly1726=) n.5547_5549delinsTAA | |
13 | g.32339903A>C | CA387785949 | BRCA2 | c.5548A>C (p.Lys1850Gln) c.5179A>C (p.Lys1727Gln) n.5548A>C | |
13 | g.32339903A>G | CA387785950 | BRCA2 | c.5548A>G (p.Lys1850Glu) c.5179A>G (p.Lys1727Glu) n.5548A>G | |
13 | g.32339903A>T | CA387785951 | BRCA2 | c.5548A>T (p.Lys1850Ter) c.5179A>T (p.Lys1727Ter) n.5548A>T | 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.32339904A>C | CA387785952 | BRCA2 | c.5549A>C (p.Lys1850Thr) c.5180A>C (p.Lys1727Thr) n.5549A>C | |
13 | g.32339904A>G | CA387785953 | BRCA2 | c.5549A>G (p.Lys1850Arg) c.5180A>G (p.Lys1727Arg) n.5549A>G | |
13 | g.32339904A>T | CA387785954 | BRCA2 | c.5549A>T (p.Lys1850Ile) c.5180A>T (p.Lys1727Ile) n.5549A>T | 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 |