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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.32339882G>A | CA337669 | BRCA2 | c.5527G>A (p.Ala1843Thr) c.5158G>A (p.Ala1720Thr) n.5527G>A | ClinVar dbSNP |
| 13 | g.32339882G>C | CA387785901 | BRCA2 | c.5527G>C (p.Ala1843Pro) c.5158G>C (p.Ala1720Pro) n.5527G>C | ClinVar dbSNP |
| 13 | g.32339882G= | CA2082824217 | BRCA2 | c.5527G= (p.Ala1843=) c.5158G= (p.Ala1720=) n.5527G= | |
| 13 | g.32339882G>T | CA387785902 | BRCA2 | c.5527G>T (p.Ala1843Ser) c.5158G>T (p.Ala1720Ser) n.5527G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339883C>A | CA387785905 | BRCA2 | c.5528C>A (p.Ala1843Glu) c.5159C>A (p.Ala1720Glu) n.5528C>A | |
| 13 | g.32339883C>G | CA387785906 | BRCA2 | c.5528C>G (p.Ala1843Gly) c.5159C>G (p.Ala1720Gly) n.5528C>G | dbSNP |
| 13 | g.32339883C>T | CA387785908 | BRCA2 | c.5528C>T (p.Ala1843Val) c.5159C>T (p.Ala1720Val) n.5528C>T | dbSNP |
| 13 | g.32339884A= | CA2082824230 | BRCA2 | c.5529A= (p.Ala1843=) c.5160A= (p.Ala1720=) n.5529A= | |
| 13 | g.32339884A>C | CA6940882 | BRCA2 | c.5529A>C (p.Ala1843=) c.5160A>C (p.Ala1720=) n.5529A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339884A>G | CA483438528 | BRCA2 | c.5529A>G (p.Ala1843=) c.5160A>G (p.Ala1720=) n.5529A>G | ClinVar |
| 13 | g.32339884A>T | CA6940883 | BRCA2 | c.5529A>T (p.Ala1843=) c.5160A>T (p.Ala1720=) n.5529A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339885T>A | CA387785912 | BRCA2 | c.5530T>A (p.Phe1844Ile) c.5161T>A (p.Phe1721Ile) n.5530T>A | ClinVar dbSNP |
| 13 | g.32339885T>C | CA387785913 | BRCA2 | c.5530T>C (p.Phe1844Leu) c.5161T>C (p.Phe1721Leu) n.5530T>C | ClinVar dbSNP |
| 13 | g.32339885T>G | CA387785915 | BRCA2 | c.5530T>G (p.Phe1844Val) c.5161T>G (p.Phe1721Val) n.5530T>G | ClinVar |
| 13 | g.32339885T= | CA2082824245 | BRCA2 | c.5530T= (p.Phe1844=) c.5161T= (p.Phe1721=) n.5530T= | |
| 13 | g.32339887del | CA2580087603 | BRCA2 | c.5532del (p.Phe1844LeufsTer3) c.5163del (p.Phe1721LeufsTer3) n.5532del | ClinVar |
| 13 | g.32339886_32339887del | CA2499222199 | BRCA2 | c.5531_5532del (p.Phe1844Ter) c.5162_5163del (p.Phe1721Ter) n.5531_5532del | |
| 13 | g.32339886T>A | CA387785918 | BRCA2 | c.5531T>A (p.Phe1844Tyr) c.5162T>A (p.Phe1721Tyr) n.5531T>A | ClinVar dbSNP |
| 13 | g.32339886T>C | CA387785917 | BRCA2 | c.5531T>C (p.Phe1844Ser) c.5162T>C (p.Phe1721Ser) n.5531T>C | |
| 13 | g.32339886T>G | CA387785916 | BRCA2 | c.5531T>G (p.Phe1844Cys) c.5162T>G (p.Phe1721Cys) n.5531T>G | |
| 13 | g.32339887T>A | CA387785919 | BRCA2 | c.5532T>A (p.Phe1844Leu) c.5163T>A (p.Phe1721Leu) n.5532T>A | dbSNP |
| 13 | g.32339887T>C | CA483438529 | BRCA2 | c.5532T>C (p.Phe1844=) c.5163T>C (p.Phe1721=) n.5532T>C | |
| 13 | g.32339887T>G | CA387785920 | BRCA2 | c.5532T>G (p.Phe1844Leu) c.5163T>G (p.Phe1721Leu) n.5532T>G | |
| 13 | g.32339888A= | CA2082824253 | BRCA2 | c.5533A= (p.Arg1845=) c.5164A= (p.Arg1722=) n.5533A= | |
| 13 | g.32339888A>C | CA483438530 | BRCA2 | c.5533A>C (p.Arg1845=) c.5164A>C (p.Arg1722=) n.5533A>C | ClinVar |
| 13 | g.32339888A>G | CA387785921 | BRCA2 | c.5533A>G (p.Arg1845Gly) c.5164A>G (p.Arg1722Gly) n.5533A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339888A>T | CA387785922 | BRCA2 | c.5533A>T (p.Arg1845Trp) c.5164A>T (p.Arg1722Trp) n.5533A>T | dbSNP |
| 13 | g.32339889G>A | CA387785923 | BRCA2 | c.5534G>A (p.Arg1845Lys) c.5165G>A (p.Arg1722Lys) n.5534G>A | ClinVar dbSNP |
| 13 | g.32339889G>C | CA387785924 | BRCA2 | c.5534G>C (p.Arg1845Thr) c.5165G>C (p.Arg1722Thr) n.5534G>C | dbSNP |
| 13 | g.32339889G= | CA2082824259 | BRCA2 | c.5534G= (p.Arg1845=) c.5165G= (p.Arg1722=) n.5534G= | |
| 13 | g.32339889G>T | CA387785925 | BRCA2 | c.5534G>T (p.Arg1845Met) c.5165G>T (p.Arg1722Met) n.5534G>T | dbSNP |
| 13 | g.32339890G>A | CA483438531 | BRCA2 | c.5535G>A (p.Arg1845=) c.5166G>A (p.Arg1722=) n.5535G>A | dbSNP |
| 13 | g.32339890G>C | CA022501 | BRCA2 | c.5535G>C (p.Arg1845Ser) c.5166G>C (p.Arg1722Ser) n.5535G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339890G= | CA2082824269 | BRCA2 | c.5535G= (p.Arg1845=) c.5166G= (p.Arg1722=) n.5535G= | |
| 13 | g.32339890G>T | CA387785926 | BRCA2 | c.5535G>T (p.Arg1845Ser) c.5166G>T (p.Arg1722Ser) n.5535G>T | dbSNP |
| 13 | g.32339891A= | CA2082824280 | BRCA2 | c.5536A= (p.Ile1846=) c.5167A= (p.Ile1723=) n.5536A= | |
| 13 | g.32339891A>C | CA387785927 | BRCA2 | c.5536A>C (p.Ile1846Leu) c.5167A>C (p.Ile1723Leu) n.5536A>C | dbSNP |
| 13 | g.32339891A>G | CA022506 | BRCA2 | c.5536A>G (p.Ile1846Val) c.5167A>G (p.Ile1723Val) n.5536A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339891A>T | CA387785928 | BRCA2 | c.5536A>T (p.Ile1846Leu) c.5167A>T (p.Ile1723Leu) n.5536A>T | dbSNP |
| 13 | g.32339892T>A | CA387785929 | BRCA2 | c.5537T>A (p.Ile1846Lys) c.5168T>A (p.Ile1723Lys) n.5537T>A | ClinVar dbSNP |
| 13 | g.32339892T>C | CA022511 | BRCA2 | c.5537T>C (p.Ile1846Thr) c.5168T>C (p.Ile1723Thr) n.5537T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339892T>G | CA387785930 | BRCA2 | c.5537T>G (p.Ile1846Arg) c.5168T>G (p.Ile1723Arg) n.5537T>G | ClinVar dbSNP |
| 13 | g.32339892T= | CA2082824349 | BRCA2 | c.5537T= (p.Ile1846=) c.5168T= (p.Ile1723=) n.5537T= | |
| 13 | g.32339893A= | CA2082824354 | BRCA2 | c.5538A= (p.Ile1846=) c.5169A= (p.Ile1723=) n.5538A= | |
| 13 | g.32339893A>C | CA483438532 | BRCA2 | c.5538A>C (p.Ile1846=) c.5169A>C (p.Ile1723=) n.5538A>C | |
| 13 | g.32339893A>G | CA10583115 | BRCA2 | c.5538A>G (p.Ile1846Met) c.5169A>G (p.Ile1723Met) n.5538A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339893A>T | CA483438534 | BRCA2 | c.5538A>T (p.Ile1846=) c.5169A>T (p.Ile1723=) n.5538A>T | dbSNP |
| 13 | g.32339894G>A | CA022516 | BRCA2 | c.5539G>A (p.Ala1847Thr) c.5170G>A (p.Ala1724Thr) n.5539G>A | ClinVar dbSNP |
| 13 | g.32339894G>C | CA387785931 | BRCA2 | c.5539G>C (p.Ala1847Pro) c.5170G>C (p.Ala1724Pro) n.5539G>C | |
| 13 | g.32339894G= | CA2082824363 | BRCA2 | c.5539G= (p.Ala1847=) c.5170G= (p.Ala1724=) n.5539G= | |
| 13 | g.32339894G>T | CA387785932 | BRCA2 | c.5539G>T (p.Ala1847Ser) c.5170G>T (p.Ala1724Ser) n.5539G>T | |
| 13 | g.32339895C>A | CA387785933 | BRCA2 | c.5540C>A (p.Ala1847Asp) c.5171C>A (p.Ala1724Asp) n.5540C>A | ClinVar dbSNP |
| 13 | g.32339895C= | CA2082824371 | BRCA2 | c.5540C= (p.Ala1847=) c.5171C= (p.Ala1724=) n.5540C= | |
| 13 | g.32339895C>G | CA387785935 | BRCA2 | c.5540C>G (p.Ala1847Gly) c.5171C>G (p.Ala1724Gly) n.5540C>G | ClinVar dbSNP |
| 13 | g.32339895C>T | CA387785934 | BRCA2 | c.5540C>T (p.Ala1847Val) c.5171C>T (p.Ala1724Val) n.5540C>T | dbSNP |
| 13 | g.32339896C>A | CA483438537 | BRCA2 | c.5541C>A (p.Ala1847=) c.5172C>A (p.Ala1724=) n.5541C>A | dbSNP |
| 13 | g.32339896C= | CA2082824387 | BRCA2 | c.5541C= (p.Ala1847=) c.5172C= (p.Ala1724=) n.5541C= | |
| 13 | g.32339896C>G | CA483438538 | BRCA2 | c.5541C>G (p.Ala1847=) c.5172C>G (p.Ala1724=) n.5541C>G | ClinVar dbSNP |
| 13 | g.32339896C>T | CA483438539 | BRCA2 | c.5541C>T (p.Ala1847=) c.5172C>T (p.Ala1724=) n.5541C>T | dbSNP |
| 13 | g.32339896_32339897delinsCA | CA2082824385 | BRCA2 | c.5541_5542delinsCA (p.Ala1847=) c.5172_5173delinsCA (p.Ala1724=) n.5541_5542delinsCA | |
| 13 | g.32339897del | CA022522 | BRCA2 | c.5542del (p.Ser1848ValfsTer15) c.5173del (p.Ser1725ValfsTer15) n.5542del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339897A>C | CA387785936 | BRCA2 | c.5542A>C (p.Ser1848Arg) c.5173A>C (p.Ser1725Arg) n.5542A>C | |
| 13 | g.32339897A>G | CA387785937 | BRCA2 | c.5542A>G (p.Ser1848Gly) c.5173A>G (p.Ser1725Gly) n.5542A>G | |
| 13 | g.32339897A>T | CA387785938 | BRCA2 | c.5542A>T (p.Ser1848Cys) c.5173A>T (p.Ser1725Cys) n.5542A>T | dbSNP |
| 13 | g.32339898_32339904del | CA2697551800 | BRCA2 | c.5543_5549del (p.Ser1848LysfsTer13) c.5174_5180del (p.Ser1725LysfsTer13) n.5543_5549del | ClinVar |
| 13 | g.32339898G>A | CA387785939 | BRCA2 | c.5543G>A (p.Ser1848Asn) c.5174G>A (p.Ser1725Asn) n.5543G>A | dbSNP |
| 13 | g.32339898G>C | CA387785940 | BRCA2 | c.5543G>C (p.Ser1848Thr) c.5174G>C (p.Ser1725Thr) n.5543G>C | ClinVar dbSNP |
| 13 | g.32339898G>T | CA387785941 | BRCA2 | c.5543G>T (p.Ser1848Ile) c.5174G>T (p.Ser1725Ile) n.5543G>T | |
| 13 | g.32339899T>A | CA387785942 | BRCA2 | c.5544T>A (p.Ser1848Arg) c.5175T>A (p.Ser1725Arg) n.5544T>A | gnomAD v4 |
| 13 | g.32339899T>C | CA483438543 | BRCA2 | c.5544T>C (p.Ser1848=) c.5175T>C (p.Ser1725=) n.5544T>C | ClinVar dbSNP |
| 13 | g.32339899T>G | CA387785943 | BRCA2 | c.5544T>G (p.Ser1848Arg) c.5175T>G (p.Ser1725Arg) n.5544T>G | |
| 13 | g.32339899T= | CA2082824395 | BRCA2 | c.5544T= (p.Ser1848=) c.5175T= (p.Ser1725=) n.5544T= | |
| 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 |
| 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 | ClinVar 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 |
| 13 | g.32339913G= | CA2082824674 | BRCA2 | c.5558G= (p.Cys1853=) c.5189G= (p.Cys1730=) n.5558G= | |
| 13 | g.32339913G>T | CA387785970 | BRCA2 | c.5558G>T (p.Cys1853Phe) c.5189G>T (p.Cys1730Phe) n.5558G>T | ClinVar dbSNP |
| 13 | g.32339914T>A | CA387785971 | BRCA2 | c.5559T>A (p.Cys1853Ter) c.5190T>A (p.Cys1730Ter) n.5559T>A | dbSNP |
| 13 | g.32339914T>C | CA483438660 | BRCA2 | c.5559T>C (p.Cys1853=) c.5190T>C (p.Cys1730=) n.5559T>C | ClinVar dbSNP |
| 13 | g.32339914T>G | CA387785972 | BRCA2 | c.5559T>G (p.Cys1853Trp) c.5190T>G (p.Cys1730Trp) n.5559T>G | dbSNP |
| 13 | g.32339914T= | CA2082824685 | BRCA2 | c.5559T= (p.Cys1853=) c.5190T= (p.Cys1730=) n.5559T= | |
| 13 | g.32339915G>A | CA387785973 | BRCA2 | c.5560G>A (p.Val1854Ile) c.5191G>A (p.Val1731Ile) n.5560G>A | dbSNP |
| 13 | g.32339915G>C | CA387785974 | BRCA2 | c.5560G>C (p.Val1854Leu) c.5191G>C (p.Val1731Leu) n.5560G>C | dbSNP |
| 13 | g.32339915G= | CA2082824693 | BRCA2 | c.5560G= (p.Val1854=) c.5191G= (p.Val1731=) n.5560G= | |
| 13 | g.32339915G>T | CA387785975 | BRCA2 | c.5560G>T (p.Val1854Phe) c.5191G>T (p.Val1731Phe) n.5560G>T | |
| 13 | g.32339916T>A | CA387785976 | BRCA2 | c.5561T>A (p.Val1854Asp) c.5192T>A (p.Val1731Asp) n.5561T>A | dbSNP |
| 13 | g.32339916T>C | CA387785977 | BRCA2 | c.5561T>C (p.Val1854Ala) c.5192T>C (p.Val1731Ala) n.5561T>C | ClinVar dbSNP |
| 13 | g.32339916T>G | CA387785978 | BRCA2 | c.5561T>G (p.Val1854Gly) c.5192T>G (p.Val1731Gly) n.5561T>G | |
| 13 | g.32339916T= | CA2082824740 | BRCA2 | c.5561T= (p.Val1854=) c.5192T= (p.Val1731=) n.5561T= | |
| 13 | g.32339918dup | CA2580087615 | BRCA2 | c.5563dup (p.Ser1855PhefsTer3) c.5194dup (p.Ser1732PhefsTer3) n.5563dup | ClinVar |
| 13 | g.32339917T>A | CA483438667 | BRCA2 | c.5562T>A (p.Val1854=) c.5193T>A (p.Val1731=) n.5562T>A | dbSNP |
| 13 | g.32339917T>C | CA483438670 | BRCA2 | c.5562T>C (p.Val1854=) c.5193T>C (p.Val1731=) n.5562T>C | dbSNP |
| 13 | g.32339917T>G | CA483438671 | BRCA2 | c.5562T>G (p.Val1854=) c.5193T>G (p.Val1731=) n.5562T>G | |
| 13 | g.32339918T>A | CA387785980 | BRCA2 | c.5563T>A (p.Ser1855Thr) c.5194T>A (p.Ser1732Thr) n.5563T>A | dbSNP |
| 13 | g.32339918T>C | CA387785981 | BRCA2 | c.5563T>C (p.Ser1855Pro) c.5194T>C (p.Ser1732Pro) n.5563T>C | |
| 13 | g.32339918T>G | CA387785979 | BRCA2 | c.5563T>G (p.Ser1855Ala) c.5194T>G (p.Ser1732Ala) n.5563T>G | ClinVar |
| 13 | g.32339919C>A | CA10586542 | BRCA2 | c.5564C>A (p.Ser1855Ter) c.5195C>A (p.Ser1732Ter) n.5564C>A | ClinVar dbSNP |
| 13 | g.32339919C= | CA2082824750 | BRCA2 | c.5564C= (p.Ser1855=) c.5195C= (p.Ser1732=) n.5564C= | |
| 13 | g.32339919C>G | CA387785983 | BRCA2 | c.5564C>G (p.Ser1855Ter) c.5195C>G (p.Ser1732Ter) n.5564C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339919C>T | CA387785982 | BRCA2 | c.5564C>T (p.Ser1855Leu) c.5195C>T (p.Ser1732Leu) n.5564C>T | |
| 13 | g.32339920A>C | CA483438673 | BRCA2 | c.5565A>C (p.Ser1855=) c.5196A>C (p.Ser1732=) n.5565A>C | |
| 13 | g.32339920A>G | CA483438674 | BRCA2 | c.5565A>G (p.Ser1855=) c.5196A>G (p.Ser1732=) n.5565A>G | dbSNP |
| 13 | g.32339920A>T | CA483438678 | BRCA2 | c.5565A>T (p.Ser1855=) c.5196A>T (p.Ser1732=) n.5565A>T | dbSNP |
| 13 | g.32339921C>A | CA387785984 | BRCA2 | c.5566C>A (p.His1856Asn) c.5197C>A (p.His1733Asn) n.5566C>A | |
| 13 | g.32339921C= | CA2082824759 | BRCA2 | c.5566C= (p.His1856=) c.5197C= (p.His1733=) n.5566C= | |
| 13 | g.32339921C>G | CA387785985 | BRCA2 | c.5566C>G (p.His1856Asp) c.5197C>G (p.His1733Asp) n.5566C>G | |
| 13 | g.32339921C>T | CA6940886 | BRCA2 | c.5566C>T (p.His1856Tyr) c.5197C>T (p.His1733Tyr) n.5566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339921_32339922delinsTG | CA2499222200 | BRCA2 | c.5566_5567delinsTG (p.His1856Cys) c.5197_5198delinsTG (p.His1733Cys) n.5566_5567delinsTG | ClinVar |
| 13 | g.32339921_32339939del | CA2695217895 | BRCA2 | c.5566_5584del (p.His1856Ter) c.5197_5215del (p.His1733Ter) n.5566_5584del | |
| 13 | g.32339922A= | CA2082824769 | BRCA2 | c.5567A= (p.His1856=) c.5198A= (p.His1733=) n.5567A= | |
| 13 | g.32339922A>C | CA387785986 | BRCA2 | c.5567A>C (p.His1856Pro) c.5198A>C (p.His1733Pro) n.5567A>C | ClinVar |
| 13 | g.32339922A>G | CA387785987 | BRCA2 | c.5567A>G (p.His1856Arg) c.5198A>G (p.His1733Arg) n.5567A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339922A>T | CA387785988 | BRCA2 | c.5567A>T (p.His1856Leu) c.5198A>T (p.His1733Leu) n.5567A>T | dbSNP |
| 13 | g.32339923T>A | CA387785989 | BRCA2 | c.5568T>A (p.His1856Gln) c.5199T>A (p.His1733Gln) n.5568T>A | dbSNP |
| 13 | g.32339923T>C | CA483438682 | BRCA2 | c.5568T>C (p.His1856=) c.5199T>C (p.His1733=) n.5568T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339923T>G | CA387785990 | BRCA2 | c.5568T>G (p.His1856Gln) c.5199T>G (p.His1733Gln) n.5568T>G | |
| 13 | g.32339923T= | CA2082824776 | BRCA2 | c.5568T= (p.His1856=) c.5199T= (p.His1733=) n.5568T= | |
| 13 | g.32339923_32339928delinsTGAAAC | CA2082824775 | BRCA2 | c.5568_5573delinsTGAAAC (p.His1856=) c.5199_5204delinsTGAAAC (p.His1733=) n.5568_5573delinsTGAAAC | |
| 13 | g.32339924del | CA2499222201 | BRCA2 | c.5569del (p.Glu1857LysfsTer6) c.5200del (p.Glu1734LysfsTer6) n.5569del | ClinVar gnomAD v4 |
| 13 | g.32339924G>A | CA387785991 | BRCA2 | c.5569G>A (p.Glu1857Lys) c.5200G>A (p.Glu1734Lys) n.5569G>A | |
| 13 | g.32339924G>C | CA387785992 | BRCA2 | c.5569G>C (p.Glu1857Gln) c.5200G>C (p.Glu1734Gln) n.5569G>C | |
| 13 | g.32339924G= | CA2082824789 | BRCA2 | c.5569G= (p.Glu1857=) c.5200G= (p.Glu1734=) n.5569G= | |
| 13 | g.32339924G>T | CA022581 | BRCA2 | c.5569G>T (p.Glu1857Ter) c.5200G>T (p.Glu1734Ter) n.5569G>T | ClinVar dbSNP |
| 13 | g.32339924_32339928del | CA022576 | BRCA2 | c.5569_5573del (p.Glu1857AsnfsTer2) c.5200_5204del (p.Glu1734AsnfsTer2) n.5569_5573del | ClinVar dbSNP ExAC |
| 13 | g.32339925A>C | CA387785993 | BRCA2 | c.5570A>C (p.Glu1857Ala) c.5201A>C (p.Glu1734Ala) n.5570A>C | |
| 13 | g.32339925A>G | CA387785995 | BRCA2 | c.5570A>G (p.Glu1857Gly) c.5201A>G (p.Glu1734Gly) n.5570A>G | ClinVar dbSNP |
| 13 | g.32339925A>T | CA387785994 | BRCA2 | c.5570A>T (p.Glu1857Val) c.5201A>T (p.Glu1734Val) n.5570A>T | dbSNP |
| 13 | g.32339926A>C | CA387785996 | BRCA2 | c.5571A>C (p.Glu1857Asp) c.5202A>C (p.Glu1734Asp) n.5571A>C | dbSNP |
| 13 | g.32339926A>G | CA483438686 | BRCA2 | c.5571A>G (p.Glu1857=) c.5202A>G (p.Glu1734=) n.5571A>G | dbSNP |
| 13 | g.32339926A>T | CA387785997 | BRCA2 | c.5571A>T (p.Glu1857Asp) c.5202A>T (p.Glu1734Asp) n.5571A>T | dbSNP |
| 13 | g.32339927A= | CA2082824831 | BRCA2 | c.5572A= (p.Thr1858=) c.5203A= (p.Thr1735=) n.5572A= | |
| 13 | g.32339927A>C | CA387785998 | BRCA2 | c.5572A>C (p.Thr1858Pro) c.5203A>C (p.Thr1735Pro) n.5572A>C | dbSNP |
| 13 | g.32339927A>G | CA6940887 | BRCA2 | c.5572A>G (p.Thr1858Ala) c.5203A>G (p.Thr1735Ala) n.5572A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339927A>T | CA387785999 | BRCA2 | c.5572A>T (p.Thr1858Ser) c.5203A>T (p.Thr1735Ser) n.5572A>T | dbSNP |
| 13 | g.32339928_32339929del | CA2695217896 | BRCA2 | c.5573_5574del (p.Thr1858AsnfsTer2) c.5204_5205del (p.Thr1735AsnfsTer2) n.5573_5574del | |
| 13 | g.32339928C>A | CA387786000 | BRCA2 | c.5573C>A (p.Thr1858Lys) c.5204C>A (p.Thr1735Lys) n.5573C>A | ClinVar dbSNP |
| 13 | g.32339928C= | CA2082824836 | BRCA2 | c.5573C= (p.Thr1858=) c.5204C= (p.Thr1735=) n.5573C= | |
| 13 | g.32339928C>G | CA387786001 | BRCA2 | c.5573C>G (p.Thr1858Arg) c.5204C>G (p.Thr1735Arg) n.5573C>G | dbSNP |
| 13 | g.32339928C>T | CA387786002 | BRCA2 | c.5573C>T (p.Thr1858Ile) c.5204C>T (p.Thr1735Ile) n.5573C>T | dbSNP |
| 13 | g.32339928_32339931del | CA2499222202 | BRCA2 | c.5573_5576del (p.Thr1858IlefsTer4) c.5204_5207del (p.Thr1735IlefsTer4) n.5573_5576del | |
| 13 | g.32339928_32339932delinsCAATT | CA2082824835 | BRCA2 | c.5573_5577delinsCAATT (p.Thr1858=) c.5204_5208delinsCAATT (p.Thr1735=) n.5573_5577delinsCAATT | |
| 13 | g.32339928_32339933delinsCAATTA | CA2082824841 | BRCA2 | c.5573_5578delinsCAATTA (p.Thr1858=) c.5204_5209delinsCAATTA (p.Thr1735=) n.5573_5578delinsCAATTA | |
| 13 | g.32339929A= | CA2082824853 | BRCA2 | c.5574A= (p.Thr1858=) c.5205A= (p.Thr1735=) n.5574A= | |
| 13 | g.32339929A>C | CA483438696 | BRCA2 | c.5574A>C (p.Thr1858=) c.5205A>C (p.Thr1735=) n.5574A>C | |
| 13 | g.32339929A>G | CA483438694 | BRCA2 | c.5574A>G (p.Thr1858=) c.5205A>G (p.Thr1735=) n.5574A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339929A>T | CA483438693 | BRCA2 | c.5574A>T (p.Thr1858=) c.5205A>T (p.Thr1735=) n.5574A>T | dbSNP |
| 13 | g.32339931_32339934del | CA022586 | BRCA2 | c.5576_5579del (p.Ile1859LysfsTer3) c.5207_5210del (p.Ile1736LysfsTer3) n.5576_5579del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339931_32339935del | CA919242537 | BRCA2 | c.5576_5580del (p.Ile1859LysfsTer12) c.5207_5211del (p.Ile1736LysfsTer12) n.5576_5580del | dbSNP |
| 13 | g.32339930A= | CA2082824858 | BRCA2 | c.5575A= (p.Ile1859=) c.5206A= (p.Ile1736=) n.5575A= | |
| 13 | g.32339930A>C | CA387786004 | BRCA2 | c.5575A>C (p.Ile1859Leu) c.5206A>C (p.Ile1736Leu) n.5575A>C | |
| 13 | g.32339930A>G | CA022595 | BRCA2 | c.5575A>G (p.Ile1859Val) c.5206A>G (p.Ile1736Val) n.5575A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339930A>T | CA387786003 | BRCA2 | c.5575A>T (p.Ile1859Phe) c.5206A>T (p.Ile1736Phe) n.5575A>T | |
| 13 | g.32339930_32339931delinsAT | CA2082824867 | BRCA2 | c.5575_5576delinsAT (p.Ile1859=) c.5206_5207delinsAT (p.Ile1736=) n.5575_5576delinsAT | |
| 13 | g.32339931T>A | CA387786005 | BRCA2 | c.5576T>A (p.Ile1859Asn) c.5207T>A (p.Ile1736Asn) n.5576T>A | |
| 13 | g.32339931T>C | CA387786006 | BRCA2 | c.5576T>C (p.Ile1859Thr) c.5207T>C (p.Ile1736Thr) n.5576T>C | dbSNP |
| 13 | g.32339931T>G | CA387786007 | BRCA2 | c.5576T>G (p.Ile1859Ser) c.5207T>G (p.Ile1736Ser) n.5576T>G | |
| 13 | g.32339932del | CA022612 | BRCA2 | c.5577del (p.Val1862Ter) c.5208del (p.Val1739Ter) n.5577del | ClinVar dbSNP |
| 13 | g.32339931_32339935delinsTTAAA | CA2082824888 | BRCA2 | c.5576_5580delinsTTAAA (p.Ile1859=) c.5207_5211delinsTTAAA (p.Ile1736=) n.5576_5580delinsTTAAA | |
| 13 | g.32339932T>A | CA483438702 | BRCA2 | c.5577T>A (p.Ile1859=) c.5208T>A (p.Ile1736=) n.5577T>A | |
| 13 | g.32339932T>C | CA483438704 | BRCA2 | c.5577T>C (p.Ile1859=) c.5208T>C (p.Ile1736=) n.5577T>C | |
| 13 | g.32339932T>G | CA387786008 | BRCA2 | c.5577T>G (p.Ile1859Met) c.5208T>G (p.Ile1736Met) n.5577T>G | ClinVar dbSNP |
| 13 | g.32339932T= | CA2082824900 | BRCA2 | c.5577T= (p.Ile1859=) c.5208T= (p.Ile1736=) n.5577T= | |
| 13 | g.32339932_32339935del | CA022608 | BRCA2 | c.5577_5580del (p.Lys1861Ter) c.5208_5211del (p.Lys1738Ter) n.5577_5580del | ClinVar dbSNP |
| 13 | g.32339932_32339936delinsTAAAA | CA2082824895 | BRCA2 | c.5577_5581delinsTAAAA (p.Ile1859=) c.5208_5212delinsTAAAA (p.Ile1736=) n.5577_5581delinsTAAAA | |
| 13 | g.32339933A= | CA2082824934 | BRCA2 | c.5578A= (p.Lys1860=) c.5209A= (p.Lys1737=) n.5578A= | |
| 13 | g.32339933A>C | CA387786010 | BRCA2 | c.5578A>C (p.Lys1860Gln) c.5209A>C (p.Lys1737Gln) n.5578A>C | ClinVar dbSNP |
| 13 | g.32339933A>G | CA387786009 | BRCA2 | c.5578A>G (p.Lys1860Glu) c.5209A>G (p.Lys1737Glu) n.5578A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339933A>T | CA022617 | BRCA2 | c.5578A>T (p.Lys1860Ter) c.5209A>T (p.Lys1737Ter) n.5578A>T | ClinVar dbSNP |
| 13 | g.32339938dup | CA022630 | BRCA2 | c.5583dup (p.Val1862SerfsTer11) c.5214dup (p.Val1739SerfsTer11) n.5583dup | ClinVar dbSNP |
| 13 | g.32339938del | CA022633 | BRCA2 | c.5583del (p.Val1862Ter) c.5214del (p.Val1739Ter) n.5583del | ClinVar dbSNP |
| 13 | g.32339937_32339938del | CA1139770809 | BRCA2 | c.5582_5583del (p.Lys1861SerfsTer11) c.5213_5214del (p.Lys1738SerfsTer11) n.5582_5583del | |
| 13 | g.32339936_32339938del | CA2082824927 | BRCA2 | c.5581_5583del (p.Lys1861del) c.5212_5214del (p.Lys1738del) n.5581_5583del | ClinVar dbSNP |
| 13 | g.32339935_32339938del | CA10589319 | BRCA2 | c.5580_5583del (p.Lys1861Ter) c.5211_5214del (p.Lys1738Ter) n.5580_5583del | ClinVar dbSNP |
| 13 | g.32339934A= | CA2082824949 | BRCA2 | c.5579A= (p.Lys1860=) c.5210A= (p.Lys1737=) n.5579A= | |
| 13 | g.32339934A>C | CA387786011 | BRCA2 | c.5579A>C (p.Lys1860Thr) c.5210A>C (p.Lys1737Thr) n.5579A>C | |
| 13 | g.32339934A>G | CA387786012 | BRCA2 | c.5579A>G (p.Lys1860Arg) c.5210A>G (p.Lys1737Arg) n.5579A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339934A>T | CA387786013 | BRCA2 | c.5579A>T (p.Lys1860Ile) c.5210A>T (p.Lys1737Ile) n.5579A>T | dbSNP |
| 13 | g.32339934_32339939delinsAAAAAG | CA2082824947 | BRCA2 | c.5579_5584delinsAAAAAG (p.Lys1860=) c.5210_5215delinsAAAAAG (p.Lys1737=) n.5579_5584delinsAAAAAG | |
| 13 | g.32339935A>C | CA387786015 | BRCA2 | c.5580A>C (p.Lys1860Asn) c.5211A>C (p.Lys1737Asn) n.5580A>C | |
| 13 | g.32339935A>G | CA483438715 | BRCA2 | c.5580A>G (p.Lys1860=) c.5211A>G (p.Lys1737=) n.5580A>G | |
| 13 | g.32339935A>T | CA387786014 | BRCA2 | c.5580A>T (p.Lys1860Asn) c.5211A>T (p.Lys1737Asn) n.5580A>T | dbSNP |
| 13 | g.32339935_32339939del | CA022622 | BRCA2 | c.5580_5584del (p.Lys1860AsnfsTer11) c.5211_5215del (p.Lys1737AsnfsTer11) n.5580_5584del | ClinVar dbSNP |
| 13 | g.32339936A= | CA2082824974 | BRCA2 | c.5581A= (p.Lys1861=) c.5212A= (p.Lys1738=) n.5581A= | |
| 13 | g.32339936A>C | CA387786016 | BRCA2 | c.5581A>C (p.Lys1861Gln) c.5212A>C (p.Lys1738Gln) n.5581A>C | |
| 13 | g.32339936A>G | CA387786017 | BRCA2 | c.5581A>G (p.Lys1861Glu) c.5212A>G (p.Lys1738Glu) n.5581A>G | ClinVar dbSNP |
| 13 | g.32339936A>T | CA387786018 | BRCA2 | c.5581A>T (p.Lys1861Ter) c.5212A>T (p.Lys1738Ter) n.5581A>T | dbSNP |
| 13 | g.32339937A>C | CA387786019 | BRCA2 | c.5582A>C (p.Lys1861Thr) c.5213A>C (p.Lys1738Thr) n.5582A>C | |
| 13 | g.32339937A>G | CA387786020 | BRCA2 | c.5582A>G (p.Lys1861Arg) c.5213A>G (p.Lys1738Arg) n.5582A>G | |
| 13 | g.32339937A>T | CA387786021 | BRCA2 | c.5582A>T (p.Lys1861Ile) c.5213A>T (p.Lys1738Ile) n.5582A>T | dbSNP |
| 13 | g.32339937_32339941delinsAAGTG | CA2082824985 | BRCA2 | c.5582_5586delinsAAGTG (p.Lys1861=) c.5213_5217delinsAAGTG (p.Lys1738=) n.5582_5586delinsAAGTG | |
| 13 | g.32339938A= | CA2082824994 | BRCA2 | c.5583A= (p.Lys1861=) c.5214A= (p.Lys1738=) n.5583A= | |
| 13 | g.32339938A>C | CA387786022 | BRCA2 | c.5583A>C (p.Lys1861Asn) c.5214A>C (p.Lys1738Asn) n.5583A>C | |
| 13 | g.32339938A>G | CA6940888 | BRCA2 | c.5583A>G (p.Lys1861=) c.5214A>G (p.Lys1738=) n.5583A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339938A>T | CA387786023 | BRCA2 | c.5583A>T (p.Lys1861Asn) c.5214A>T (p.Lys1738Asn) n.5583A>T | ClinVar |
| 13 | g.32339939_32339942del | CA022639 | BRCA2 | c.5584_5587del (p.Val1862LysfsTer11) c.5215_5218del (p.Val1739LysfsTer11) n.5584_5587del | ClinVar dbSNP |
| 13 | g.32339939G>A | CA387786025 | BRCA2 | c.5584G>A (p.Val1862Met) c.5215G>A (p.Val1739Met) n.5584G>A | ClinVar dbSNP |
| 13 | g.32339939G>C | CA387786026 | BRCA2 | c.5584G>C (p.Val1862Leu) c.5215G>C (p.Val1739Leu) n.5584G>C | dbSNP gnomAD v4 |
| 13 | g.32339939G>T | CA387786024 | BRCA2 | c.5584G>T (p.Val1862Leu) c.5215G>T (p.Val1739Leu) n.5584G>T | |
| 13 | g.32339939_32339943delinsGTGAA | CA2082825004 | BRCA2 | c.5584_5588delinsGTGAA (p.Val1862=) c.5215_5219delinsGTGAA (p.Val1739=) n.5584_5588delinsGTGAA | |
| 13 | g.32339939_32339940insA | CA2499222203 | BRCA2 | c.5584_5585insA (p.Val1862AspfsTer11) c.5215_5216insA (p.Val1739AspfsTer11) n.5584_5585insA | |
| 13 | g.32339940T>A | CA387786027 | BRCA2 | c.5585T>A (p.Val1862Glu) c.5216T>A (p.Val1739Glu) n.5585T>A | dbSNP |
| 13 | g.32339940T>C | CA387786028 | BRCA2 | c.5585T>C (p.Val1862Ala) c.5216T>C (p.Val1739Ala) n.5585T>C | ClinVar dbSNP |
| 13 | g.32339940T>G | CA387786029 | BRCA2 | c.5585T>G (p.Val1862Gly) c.5216T>G (p.Val1739Gly) n.5585T>G | ClinVar dbSNP |
| 13 | g.32339940T= | CA2082825019 | BRCA2 | c.5585T= (p.Val1862=) c.5216T= (p.Val1739=) n.5585T= | |
| 13 | g.32339940_32339943del | CA022642 | BRCA2 | c.5585_5588del (p.Val1862GlufsTer11) c.5216_5219del (p.Val1739GlufsTer11) n.5585_5588del | ClinVar dbSNP |
| 13 | g.32339941G>A | CA16606686 | BRCA2 | c.5586G>A (p.Val1862=) c.5217G>A (p.Val1739=) n.5586G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339941G>C | CA483438726 | BRCA2 | c.5586G>C (p.Val1862=) c.5217G>C (p.Val1739=) n.5586G>C | dbSNP gnomAD v2 |
| 13 | g.32339941G= | CA2082825032 | BRCA2 | c.5586G= (p.Val1862=) c.5217G= (p.Val1739=) n.5586G= | |
| 13 | g.32339941G>T | CA483438727 | BRCA2 | c.5586G>T (p.Val1862=) c.5217G>T (p.Val1739=) n.5586G>T | ClinVar dbSNP |
| 13 | g.32339941dup | CA2082825031 | BRCA2 | c.5586dup (p.Lys1863GlufsTer10) c.5217dup (p.Lys1740GlufsTer10) n.5586dup | dbSNP |
| 13 | g.32339942A>C | CA387786030 | BRCA2 | c.5587A>C (p.Lys1863Gln) c.5218A>C (p.Lys1740Gln) n.5587A>C | dbSNP |
| 13 | g.32339942A>G | CA387786031 | BRCA2 | c.5587A>G (p.Lys1863Glu) c.5218A>G (p.Lys1740Glu) n.5587A>G | dbSNP |
| 13 | g.32339942A>T | CA387786032 | BRCA2 | c.5587A>T (p.Lys1863Ter) c.5218A>T (p.Lys1740Ter) n.5587A>T | dbSNP |
| 13 | g.32339943A>C | CA387786033 | BRCA2 | c.5588A>C (p.Lys1863Thr) c.5219A>C (p.Lys1740Thr) n.5588A>C | dbSNP |
| 13 | g.32339943A>G | CA387786034 | BRCA2 | c.5588A>G (p.Lys1863Arg) c.5219A>G (p.Lys1740Arg) n.5588A>G | |
| 13 | g.32339943A>T | CA387786035 | BRCA2 | c.5588A>T (p.Lys1863Ile) c.5219A>T (p.Lys1740Ile) n.5588A>T | dbSNP |
| 13 | g.32339943_32339945delinsAAG | CA2082825041 | BRCA2 | c.5588_5590delinsAAG (p.Lys1863=) c.5219_5221delinsAAG (p.Lys1740=) n.5588_5590delinsAAG | |
| 13 | g.32339943_32339947delinsAAGAC | CA2082825040 | BRCA2 | c.5588_5592delinsAAGAC (p.Lys1863=) c.5219_5223delinsAAGAC (p.Lys1740=) n.5588_5592delinsAAGAC | |
| 13 | g.32339944A>C | CA387786036 | BRCA2 | c.5589A>C (p.Lys1863Asn) c.5220A>C (p.Lys1740Asn) n.5589A>C | dbSNP |
| 13 | g.32339944A>G | CA483438731 | BRCA2 | c.5589A>G (p.Lys1863=) c.5220A>G (p.Lys1740=) n.5589A>G | ClinVar dbSNP |
| 13 | g.32339944A>T | CA387786037 | BRCA2 | c.5589A>T (p.Lys1863Asn) c.5220A>T (p.Lys1740Asn) n.5589A>T | dbSNP |
| 13 | g.32339945_32339946del | CA10589320 | BRCA2 | c.5590_5591del (p.Asp1864HisfsTer8) c.5221_5222del (p.Asp1741HisfsTer8) n.5590_5591del | ClinVar dbSNP |
| 13 | g.32339945_32339948del | CA10586075 | BRCA2 | c.5590_5593del (p.Asp1864TyrfsTer9) c.5221_5224del (p.Asp1741TyrfsTer9) n.5590_5593del | ClinVar dbSNP |
| 13 | g.32339945G>A | CA022649 | BRCA2 | c.5590G>A (p.Asp1864Asn) c.5221G>A (p.Asp1741Asn) n.5590G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339945G>C | CA387786038 | BRCA2 | c.5590G>C (p.Asp1864His) c.5221G>C (p.Asp1741His) n.5590G>C | dbSNP |
| 13 | g.32339945G= | CA2082825060 | BRCA2 | c.5590G= (p.Asp1864=) c.5221G= (p.Asp1741=) n.5590G= | |
| 13 | g.32339945G>T | CA387786039 | BRCA2 | c.5590G>T (p.Asp1864Tyr) c.5221G>T (p.Asp1741Tyr) n.5590G>T | ClinVar |
| 13 | g.32339945_32339947delinsGAC | CA2082825063 | BRCA2 | c.5590_5592delinsGAC (p.Asp1864=) c.5221_5223delinsGAC (p.Asp1741=) n.5590_5592delinsGAC | |
| 13 | g.32339946A= | CA2082825077 | BRCA2 | c.5591A= (p.Asp1864=) c.5222A= (p.Asp1741=) n.5591A= | |
| 13 | g.32339946A>C | CA387786041 | BRCA2 | c.5591A>C (p.Asp1864Ala) c.5222A>C (p.Asp1741Ala) n.5591A>C | dbSNP |
| 13 | g.32339946A>G | CA022654 | BRCA2 | c.5591A>G (p.Asp1864Gly) c.5222A>G (p.Asp1741Gly) n.5591A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339946A>T | CA387786040 | BRCA2 | c.5591A>T (p.Asp1864Val) c.5222A>T (p.Asp1741Val) n.5591A>T | dbSNP |
| 13 | g.32339947_32339948del | CA022659 | BRCA2 | c.5592_5593del (p.Phe1866TyrfsTer6) c.5223_5224del (p.Phe1743TyrfsTer6) n.5592_5593del | ClinVar dbSNP |
| 13 | g.32339947C>A | CA387786042 | BRCA2 | c.5592C>A (p.Asp1864Glu) c.5223C>A (p.Asp1741Glu) n.5592C>A | ClinVar dbSNP |
| 13 | g.32339947C= | CA2082825097 | BRCA2 | c.5592C= (p.Asp1864=) c.5223C= (p.Asp1741=) n.5592C= | |
| 13 | g.32339947C>G | CA387786043 | BRCA2 | c.5592C>G (p.Asp1864Glu) c.5223C>G (p.Asp1741Glu) n.5592C>G | dbSNP |
| 13 | g.32339947C>T | CA483438735 | BRCA2 | c.5592C>T (p.Asp1864=) c.5223C>T (p.Asp1741=) n.5592C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339947_32339948delinsCA | CA2082825096 | BRCA2 | c.5592_5593delinsCA (p.Asp1864=) c.5223_5224delinsCA (p.Asp1741=) n.5592_5593delinsCA | |
| 13 | g.32339947_32339949delinsCAT | CA2082825093 | BRCA2 | c.5592_5594delinsCAT (p.Asp1864=) c.5223_5225delinsCAT (p.Asp1741=) n.5592_5594delinsCAT | |
| 13 | g.32339948del | CA16619727 | BRCA2 | c.5593del (p.Ile1865TyrfsTer9) c.5224del (p.Ile1742TyrfsTer9) n.5593del | ClinVar dbSNP |
| 13 | g.32339948A= | CA2082825112 | BRCA2 | c.5593A= (p.Ile1865=) c.5224A= (p.Ile1742=) n.5593A= | |
| 13 | g.32339948A>C | CA387786044 | BRCA2 | c.5593A>C (p.Ile1865Leu) c.5224A>C (p.Ile1742Leu) n.5593A>C | |
| 13 | g.32339948A>G | CA022664 | BRCA2 | c.5593A>G (p.Ile1865Val) c.5224A>G (p.Ile1742Val) n.5593A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339948A>T | CA387786045 | BRCA2 | c.5593A>T (p.Ile1865Leu) c.5224A>T (p.Ile1742Leu) n.5593A>T | dbSNP |
| 13 | g.32339948dup | CA2499222204 | BRCA2 | c.5593dup (p.Ile1865AsnfsTer8) c.5224dup (p.Ile1742AsnfsTer8) n.5593dup | ClinVar dbSNP |
| 13 | g.32339950_32339951del | CA022668 | BRCA2 | c.5595_5596del (p.Phe1866TyrfsTer6) c.5226_5227del (p.Phe1743TyrfsTer6) n.5595_5596del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339949T>A | CA387786046 | BRCA2 | c.5594T>A (p.Ile1865Lys) c.5225T>A (p.Ile1742Lys) n.5594T>A | dbSNP |
| 13 | g.32339949T>C | CA387786047 | BRCA2 | c.5594T>C (p.Ile1865Thr) c.5225T>C (p.Ile1742Thr) n.5594T>C | |
| 13 | g.32339949T>G | CA387786048 | BRCA2 | c.5594T>G (p.Ile1865Arg) c.5225T>G (p.Ile1742Arg) n.5594T>G | |
| 13 | g.32339949_32339951delinsTAT | CA2082825116 | BRCA2 | c.5594_5596delinsTAT (p.Ile1865=) c.5225_5227delinsTAT (p.Ile1742=) n.5594_5596delinsTAT | |
| 13 | g.32339950A= | CA2082825125 | BRCA2 | c.5595A= (p.Ile1865=) c.5226A= (p.Ile1742=) n.5595A= | |
| 13 | g.32339950A>C | CA483438739 | BRCA2 | c.5595A>C (p.Ile1865=) c.5226A>C (p.Ile1742=) n.5595A>C | |
| 13 | g.32339950A>G | CA387786049 | BRCA2 | c.5595A>G (p.Ile1865Met) c.5226A>G (p.Ile1742Met) n.5595A>G | ClinVar dbSNP |
| 13 | g.32339950A>T | CA483438740 | BRCA2 | c.5595A>T (p.Ile1865=) c.5226A>T (p.Ile1742=) n.5595A>T | |
| 13 | g.32339950_32339951delinsC | CA280073 | BRCA2 | c.5595_5596delinsC (p.Phe1866LeufsTer8) c.5226_5227delinsC (p.Phe1743LeufsTer8) n.5595_5596delinsC | ClinVar dbSNP |
| 13 | g.32339951T>A | CA387786050 | BRCA2 | c.5596T>A (p.Phe1866Ile) c.5227T>A (p.Phe1743Ile) n.5596T>A | dbSNP |
| 13 | g.32339951T>C | CA022674 | BRCA2 | c.5596T>C (p.Phe1866Leu) c.5227T>C (p.Phe1743Leu) n.5596T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339951T>G | CA387786051 | BRCA2 | c.5596T>G (p.Phe1866Val) c.5227T>G (p.Phe1743Val) n.5596T>G | |
| 13 | g.32339951T= | CA2082825147 | BRCA2 | c.5596T= (p.Phe1866=) c.5227T= (p.Phe1743=) n.5596T= | |
| 13 | g.32339953dup | CA2580087617 | BRCA2 | c.5598dup (p.Thr1867TyrfsTer6) c.5229dup (p.Thr1744TyrfsTer6) n.5598dup | ClinVar |
| 13 | g.32339952T>A | CA387786052 | BRCA2 | c.5597T>A (p.Phe1866Tyr) c.5228T>A (p.Phe1743Tyr) n.5597T>A | dbSNP |
| 13 | g.32339952T>C | CA387786053 | BRCA2 | c.5597T>C (p.Phe1866Ser) c.5228T>C (p.Phe1743Ser) n.5597T>C | |
| 13 | g.32339952T>G | CA387786054 | BRCA2 | c.5597T>G (p.Phe1866Cys) c.5228T>G (p.Phe1743Cys) n.5597T>G | |
| 13 | g.32339953T>A | CA387786056 | BRCA2 | c.5598T>A (p.Phe1866Leu) c.5229T>A (p.Phe1743Leu) n.5598T>A | |
| 13 | g.32339953T>C | CA483438742 | BRCA2 | c.5598T>C (p.Phe1866=) c.5229T>C (p.Phe1743=) n.5598T>C | |
| 13 | g.32339953T>G | CA387786055 | BRCA2 | c.5598T>G (p.Phe1866Leu) c.5229T>G (p.Phe1743Leu) n.5598T>G | |
| 13 | g.32339953_32339957delinsTACAG | CA2082825155 | BRCA2 | c.5598_5602delinsTACAG (p.Phe1866=) c.5229_5233delinsTACAG (p.Phe1743=) n.5598_5602delinsTACAG | |
| 13 | g.32339954A= | CA2082825169 | BRCA2 | c.5599A= (p.Thr1867=) c.5230A= (p.Thr1744=) n.5599A= | |
| 13 | g.32339954A>C | CA387786057 | BRCA2 | c.5599A>C (p.Thr1867Pro) c.5230A>C (p.Thr1744Pro) n.5599A>C | ClinVar dbSNP |
| 13 | g.32339954A>G | CA387786058 | BRCA2 | c.5599A>G (p.Thr1867Ala) c.5230A>G (p.Thr1744Ala) n.5599A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339954A>T | CA387786059 | BRCA2 | c.5599A>T (p.Thr1867Ser) c.5230A>T (p.Thr1744Ser) n.5599A>T | dbSNP |
| 13 | g.32339955_32339956del | CA2831039703 | BRCA2 | c.5600_5601del (p.Thr1867ArgfsTer5) c.5231_5232del (p.Thr1744ArgfsTer5) n.5600_5601del | |
| 13 | g.32339958_32339961del | CA022689 | BRCA2 | c.5603_5606del (p.Asp1868ValfsTer5) c.5234_5237del (p.Asp1745ValfsTer5) n.5603_5606del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339955C>A | CA387786060 | BRCA2 | c.5600C>A (p.Thr1867Lys) c.5231C>A (p.Thr1744Lys) n.5600C>A | ClinVar dbSNP |
| 13 | g.32339955C= | CA2082825176 | BRCA2 | c.5600C= (p.Thr1867=) c.5231C= (p.Thr1744=) n.5600C= | |
| 13 | g.32339955C>G | CA387786061 | BRCA2 | c.5600C>G (p.Thr1867Arg) c.5231C>G (p.Thr1744Arg) n.5600C>G | dbSNP |
| 13 | g.32339955C>T | CA387786062 | BRCA2 | c.5600C>T (p.Thr1867Ile) c.5231C>T (p.Thr1744Ile) n.5600C>T | dbSNP |
| 13 | g.32339956A>C | CA483438744 | BRCA2 | c.5601A>C (p.Thr1867=) c.5232A>C (p.Thr1744=) n.5601A>C | |
| 13 | g.32339956A>G | CA483438745 | BRCA2 | c.5601A>G (p.Thr1867=) c.5232A>G (p.Thr1744=) n.5601A>G | dbSNP |
| 13 | g.32339956A>T | CA483438746 | BRCA2 | c.5601A>T (p.Thr1867=) c.5232A>T (p.Thr1744=) n.5601A>T | dbSNP |
| 13 | g.32339957G>A | CA387786063 | BRCA2 | c.5602G>A (p.Asp1868Asn) c.5233G>A (p.Asp1745Asn) n.5602G>A | ClinVar dbSNP |
| 13 | g.32339957G>C | CA387786064 | BRCA2 | c.5602G>C (p.Asp1868His) c.5233G>C (p.Asp1745His) n.5602G>C | dbSNP |
| 13 | g.32339957G= | CA2082825182 | BRCA2 | c.5602G= (p.Asp1868=) c.5233G= (p.Asp1745=) n.5602G= | |
| 13 | g.32339957G>T | CA022683 | BRCA2 | c.5602G>T (p.Asp1868Tyr) c.5233G>T (p.Asp1745Tyr) n.5602G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339957_32339959delinsGAC | CA2082825187 | BRCA2 | c.5602_5604delinsGAC (p.Asp1868=) c.5233_5235delinsGAC (p.Asp1745=) n.5602_5604delinsGAC | |
| 13 | g.32339957_32339958insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT | CA2547523395 | BRCA2 | c.5602_5603insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT (p.Asp1868ValfsTer19) c.5233_5234insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT (p.Asp1745ValfsTer19) n.5602_5603insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT | |
| 13 | g.32339958A= | CA2082825194 | BRCA2 | c.5603A= (p.Asp1868=) c.5234A= (p.Asp1745=) n.5603A= | |
| 13 | g.32339958A>C | CA387786065 | BRCA2 | c.5603A>C (p.Asp1868Ala) c.5234A>C (p.Asp1745Ala) n.5603A>C | dbSNP |
| 13 | g.32339958A>G | CA387786066 | BRCA2 | c.5603A>G (p.Asp1868Gly) c.5234A>G (p.Asp1745Gly) n.5603A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339958A>T | CA387786067 | BRCA2 | c.5603A>T (p.Asp1868Val) c.5234A>T (p.Asp1745Val) n.5603A>T | dbSNP |
| 13 | g.32339959_32339960del | CA6940889 | BRCA2 | c.5604_5605del (p.Asp1868GlufsTer4) c.5235_5236del (p.Asp1745GlufsTer4) n.5604_5605del | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.32339958_32339964delinsACAGTTT | CA2082825195 | BRCA2 | c.5603_5609delinsACAGTTT (p.Asp1868=) c.5234_5240delinsACAGTTT (p.Asp1745=) n.5603_5609delinsACAGTTT | |
| 13 | g.32339959C>A | CA387786068 | BRCA2 | c.5604C>A (p.Asp1868Glu) c.5235C>A (p.Asp1745Glu) n.5604C>A | dbSNP |
| 13 | g.32339959C= | CA2082825206 | BRCA2 | c.5604C= (p.Asp1868=) c.5235C= (p.Asp1745=) n.5604C= | |
| 13 | g.32339959C>G | CA387786069 | BRCA2 | c.5604C>G (p.Asp1868Glu) c.5235C>G (p.Asp1745Glu) n.5604C>G | dbSNP |
| 13 | g.32339959C>T | CA483438751 | BRCA2 | c.5604C>T (p.Asp1868=) c.5235C>T (p.Asp1745=) n.5604C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339963_32339968del | CA16619728 | BRCA2 | c.5608_5613del (p.Phe1870_Ser1871del) c.5239_5244del (p.Phe1747_Ser1748del) n.5608_5613del | ClinVar dbSNP |
| 13 | g.32339960A= | CA2082825226 | BRCA2 | c.5605A= (p.Ser1869=) c.5236A= (p.Ser1746=) n.5605A= | |
| 13 | g.32339960A>C | CA387786070 | BRCA2 | c.5605A>C (p.Ser1869Arg) c.5236A>C (p.Ser1746Arg) n.5605A>C | ClinVar dbSNP |
| 13 | g.32339960A>G | CA10579657 | BRCA2 | c.5605A>G (p.Ser1869Gly) c.5236A>G (p.Ser1746Gly) n.5605A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339960A>T | CA387786071 | BRCA2 | c.5605A>T (p.Ser1869Cys) c.5236A>T (p.Ser1746Cys) n.5605A>T | dbSNP |
| 13 | g.32339961G>A | CA387786072 | BRCA2 | c.5606G>A (p.Ser1869Asn) c.5237G>A (p.Ser1746Asn) n.5606G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339961G>C | CA387786074 | BRCA2 | c.5606G>C (p.Ser1869Thr) c.5237G>C (p.Ser1746Thr) n.5606G>C | dbSNP |
| 13 | g.32339961G= | CA2082825240 | BRCA2 | c.5606G= (p.Ser1869=) c.5237G= (p.Ser1746=) n.5606G= | |
| 13 | g.32339961G>T | CA387786073 | BRCA2 | c.5606G>T (p.Ser1869Ile) c.5237G>T (p.Ser1746Ile) n.5606G>T | |
| 13 | g.32339961_32339962insC | CA658823657 | BRCA2 | c.5606_5607insC (p.Ser1871GlnfsTer2) c.5237_5238insC (p.Ser1748GlnfsTer2) n.5606_5607insC | ClinVar dbSNP |
| 13 | g.32339962T>A | CA387786075 | BRCA2 | c.5607T>A (p.Ser1869Arg) c.5238T>A (p.Ser1746Arg) n.5607T>A | ClinVar dbSNP |
| 13 | g.32339962T>C | CA483438756 | BRCA2 | c.5607T>C (p.Ser1869=) c.5238T>C (p.Ser1746=) n.5607T>C | dbSNP |
| 13 | g.32339962T>G | CA387786076 | BRCA2 | c.5607T>G (p.Ser1869Arg) c.5238T>G (p.Ser1746Arg) n.5607T>G | dbSNP |
| 13 | g.32339962T= | CA2082825254 | BRCA2 | c.5607T= (p.Ser1869=) c.5238T= (p.Ser1746=) n.5607T= | |
| 13 | g.32339964dup | CA10589321 | BRCA2 | c.5609dup (p.Ser1871GlnfsTer2) c.5240dup (p.Ser1748GlnfsTer2) n.5609dup | ClinVar dbSNP |
| 13 | g.32339962_32339963insC | CA645372972 | BRCA2 | c.5607_5608insC (p.Phe1870LeufsTer3) c.5238_5239insC (p.Phe1747LeufsTer3) n.5607_5608insC | ClinVar dbSNP |
| 13 | g.32339963T>A | CA387786077 | BRCA2 | c.5608T>A (p.Phe1870Ile) c.5239T>A (p.Phe1747Ile) n.5608T>A | dbSNP |
| 13 | g.32339963T>C | CA387786078 | BRCA2 | c.5608T>C (p.Phe1870Leu) c.5239T>C (p.Phe1747Leu) n.5608T>C | |
| 13 | g.32339963T>G | CA387786079 | BRCA2 | c.5608T>G (p.Phe1870Val) c.5239T>G (p.Phe1747Val) n.5608T>G | |
| 13 | g.32339964T>A | CA387786082 | BRCA2 | c.5609T>A (p.Phe1870Tyr) c.5240T>A (p.Phe1747Tyr) n.5609T>A | ClinVar dbSNP |
| 13 | g.32339964T>C | CA387786081 | BRCA2 | c.5609T>C (p.Phe1870Ser) c.5240T>C (p.Phe1747Ser) n.5609T>C | |
| 13 | g.32339964T>G | CA387786080 | BRCA2 | c.5609T>G (p.Phe1870Cys) c.5240T>G (p.Phe1747Cys) n.5609T>G | ClinVar dbSNP |
| 13 | g.32339964T= | CA2082825285 | BRCA2 | c.5609T= (p.Phe1870=) c.5240T= (p.Phe1747=) n.5609T= | |
| 13 | g.32339964_32339965delinsAG | CA022697 | BRCA2 | c.5609_5610delinsAG (p.Phe1870Ter) c.5240_5241delinsAG (p.Phe1747Ter) n.5609_5610delinsAG | ClinVar dbSNP |
| 13 | g.32339964_32339965delinsTC | CA2082825269 | BRCA2 | c.5609_5610delinsTC (p.Phe1870=) c.5240_5241delinsTC (p.Phe1747=) n.5609_5610delinsTC | |
| 13 | g.32339965C>A | CA387786083 | BRCA2 | c.5610C>A (p.Phe1870Leu) c.5241C>A (p.Phe1747Leu) n.5610C>A | dbSNP |
| 13 | g.32339965C= | CA2082825306 | BRCA2 | c.5610C= (p.Phe1870=) c.5241C= (p.Phe1747=) n.5610C= | |
| 13 | g.32339965C>G | CA387786084 | BRCA2 | c.5610C>G (p.Phe1870Leu) c.5241C>G (p.Phe1747Leu) n.5610C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339965C>T | CA16614318 | BRCA2 | c.5610C>T (p.Phe1870=) c.5241C>T (p.Phe1747=) n.5610C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339965_32339970delinsCAGTAA | CA2082825296 | BRCA2 | c.5610_5615delinsCAGTAA (p.Phe1870=) c.5241_5246delinsCAGTAA (p.Phe1747=) n.5610_5615delinsCAGTAA | |
| 13 | g.32339966A>C | CA387786085 | BRCA2 | c.5611A>C (p.Ser1871Arg) c.5242A>C (p.Ser1748Arg) n.5611A>C | |
| 13 | g.32339966A>G | CA387786086 | BRCA2 | c.5611A>G (p.Ser1871Gly) c.5242A>G (p.Ser1748Gly) n.5611A>G | dbSNP |
| 13 | g.32339966A>T | CA387786087 | BRCA2 | c.5611A>T (p.Ser1871Cys) c.5242A>T (p.Ser1748Cys) n.5611A>T | |
| 13 | g.32339971_32339975del | CA022713 | BRCA2 | c.5616_5620del (p.Lys1872AsnfsTer2) c.5247_5251del (p.Lys1749AsnfsTer2) n.5616_5620del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339967G>A | CA022703 | BRCA2 | c.5612G>A (p.Ser1871Asn) c.5243G>A (p.Ser1748Asn) n.5612G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339967G>C | CA387786089 | BRCA2 | c.5612G>C (p.Ser1871Thr) c.5243G>C (p.Ser1748Thr) n.5612G>C | |
| 13 | g.32339967G= | CA2082825323 | BRCA2 | c.5612G= (p.Ser1871=) c.5243G= (p.Ser1748=) n.5612G= | |
| 13 | g.32339967G>T | CA387786088 | BRCA2 | c.5612G>T (p.Ser1871Ile) c.5243G>T (p.Ser1748Ile) n.5612G>T | |
| 13 | g.32339967_32339968delinsGT | CA2082825319 | BRCA2 | c.5612_5613delinsGT (p.Ser1871=) c.5243_5244delinsGT (p.Ser1748=) n.5612_5613delinsGT | |
| 13 | g.32339968del | CA1139663222 | BRCA2 | c.5613del (p.Ser1871ArgfsTer3) c.5244del (p.Ser1748ArgfsTer3) n.5613del | ClinVar dbSNP |
| 13 | g.32339968T>A | CA387786090 | BRCA2 | c.5613T>A (p.Ser1871Arg) c.5244T>A (p.Ser1748Arg) n.5613T>A | |
| 13 | g.32339968T>C | CA483438765 | BRCA2 | c.5613T>C (p.Ser1871=) c.5244T>C (p.Ser1748=) n.5613T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339968T>G | CA387786091 | BRCA2 | c.5613T>G (p.Ser1871Arg) c.5244T>G (p.Ser1748Arg) n.5613T>G | |
| 13 | g.32339968T= | CA2082825335 | BRCA2 | c.5613T= (p.Ser1871=) c.5244T= (p.Ser1748=) n.5613T= | |
| 13 | g.32339968_32339969delinsTA | CA2082825331 | BRCA2 | c.5613_5614delinsTA (p.Ser1871=) c.5244_5245delinsTA (p.Ser1748=) n.5613_5614delinsTA | |
| 13 | g.32339969A= | CA2082825351 | BRCA2 | c.5614A= (p.Lys1872=) c.5245A= (p.Lys1749=) n.5614A= | |
| 13 | g.32339969A>C | CA387786092 | BRCA2 | c.5614A>C (p.Lys1872Gln) c.5245A>C (p.Lys1749Gln) n.5614A>C | |
| 13 | g.32339969A>G | CA387786093 | BRCA2 | c.5614A>G (p.Lys1872Glu) c.5245A>G (p.Lys1749Glu) n.5614A>G | ClinVar |
| 13 | g.32339969A>T | CA022708 | BRCA2 | c.5614A>T (p.Lys1872Ter) c.5245A>T (p.Lys1749Ter) n.5614A>T | ClinVar dbSNP |
| 13 | g.32339971del | CA10602529 | BRCA2 | c.5616del (p.Val1873Ter) c.5247del (p.Val1750Ter) n.5616del | ClinVar dbSNP |
| 13 | g.32339970A>C | CA387786094 | BRCA2 | c.5615A>C (p.Lys1872Thr) c.5246A>C (p.Lys1749Thr) n.5615A>C | gnomAD v4 |
| 13 | g.32339970A>G | CA387786095 | BRCA2 | c.5615A>G (p.Lys1872Arg) c.5246A>G (p.Lys1749Arg) n.5615A>G | ClinVar dbSNP |
| 13 | g.32339970A>T | CA387786096 | BRCA2 | c.5615A>T (p.Lys1872Ile) c.5246A>T (p.Lys1749Ile) n.5615A>T | dbSNP |
| 13 | g.32339971A= | CA2082825363 | BRCA2 | c.5616A= (p.Lys1872=) c.5247A= (p.Lys1749=) n.5616A= | |
| 13 | g.32339971A>C | CA387786097 | BRCA2 | c.5616A>C (p.Lys1872Asn) c.5247A>C (p.Lys1749Asn) n.5616A>C | |
| 13 | g.32339971A>G | CA483438768 | BRCA2 | c.5616A>G (p.Lys1872=) c.5247A>G (p.Lys1749=) n.5616A>G | ClinVar dbSNP |
| 13 | g.32339971A>T | CA387786098 | BRCA2 | c.5616A>T (p.Lys1872Asn) c.5247A>T (p.Lys1749Asn) n.5616A>T | |
| 13 | g.32339971_32339976delinsAGTAAT | CA2082825361 | BRCA2 | c.5616_5621delinsAGTAAT (p.Lys1872=) c.5247_5252delinsAGTAAT (p.Lys1749=) n.5616_5621delinsAGTAAT | |
| 13 | g.32339972del | CA2739277508 | BRCA2 | c.5617del (p.Val1873Ter) c.5248del (p.Val1750Ter) n.5617del | ClinVar |
| 13 | g.32339972G>A | CA387786099 | BRCA2 | c.5617G>A (p.Val1873Ile) c.5248G>A (p.Val1750Ile) n.5617G>A | ClinVar dbSNP |
| 13 | g.32339972G>C | CA387786101 | BRCA2 | c.5617G>C (p.Val1873Leu) c.5248G>C (p.Val1750Leu) n.5617G>C | dbSNP |
| 13 | g.32339972G= | CA2082825373 | BRCA2 | c.5617G= (p.Val1873=) c.5248G= (p.Val1750=) n.5617G= | |
| 13 | g.32339972G>T | CA387786100 | BRCA2 | c.5617G>T (p.Val1873Leu) c.5248G>T (p.Val1750Leu) n.5617G>T | ClinVar dbSNP |
| 13 | g.32339972_32339976del | CA915948495 | BRCA2 | c.5617_5621del (p.Val1873Ter) c.5248_5252del (p.Val1750Ter) n.5617_5621del | ClinVar dbSNP |
| 13 | g.32339972_32339976delinsGTAAT | CA2082825376 | BRCA2 | c.5617_5621delinsGTAAT (p.Val1873=) c.5248_5252delinsGTAAT (p.Val1750=) n.5617_5621delinsGTAAT | |
| 13 | g.32339972_32339977delinsGTAATT | CA2082825379 | BRCA2 | c.5617_5622delinsGTAATT (p.Val1873=) c.5248_5253delinsGTAATT (p.Val1750=) n.5617_5622delinsGTAATT | |
| 13 | g.32339973T>A | CA387786102 | BRCA2 | c.5618T>A (p.Val1873Glu) c.5249T>A (p.Val1750Glu) n.5618T>A | |
| 13 | g.32339973T>C | CA387786103 | BRCA2 | c.5618T>C (p.Val1873Ala) c.5249T>C (p.Val1750Ala) n.5618T>C | ClinVar dbSNP |
| 13 | g.32339973T>G | CA387786104 | BRCA2 | c.5618T>G (p.Val1873Gly) c.5249T>G (p.Val1750Gly) n.5618T>G | |
| 13 | g.32339973_32339977del | CA913190953 | BRCA2 | c.5618_5622del (p.Val1873GlufsTer7) c.5249_5253del (p.Val1750GlufsTer7) n.5618_5622del | ClinVar dbSNP |
| 13 | g.32339976_32339979del | CA022719 | BRCA2 | c.5621_5624del (p.Ile1874ArgfsTer?) c.5252_5255del (p.Ile1751ArgfsTer?) n.5621_5624del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339974A>C | CA483438772 | BRCA2 | c.5619A>C (p.Val1873=) c.5250A>C (p.Val1750=) n.5619A>C | dbSNP |
| 13 | g.32339974A>G | CA483438773 | BRCA2 | c.5619A>G (p.Val1873=) c.5250A>G (p.Val1750=) n.5619A>G | dbSNP |
| 13 | g.32339974A>T | CA483438775 | BRCA2 | c.5619A>T (p.Val1873=) c.5250A>T (p.Val1750=) n.5619A>T | dbSNP |
| 13 | g.32339976_32339983del | CA2573053814 | BRCA2 | c.5621_5628del (p.Ile1874LysfsTer5) c.5252_5259del (p.Ile1751LysfsTer5) n.5621_5628del | ClinVar dbSNP |
| 13 | g.32339975A= | CA2082825393 | BRCA2 | c.5620A= (p.Ile1874=) c.5251A= (p.Ile1751=) n.5620A= | |
| 13 | g.32339975A>C | CA387786105 | BRCA2 | c.5620A>C (p.Ile1874Leu) c.5251A>C (p.Ile1751Leu) n.5620A>C | |
| 13 | g.32339975A>G | CA247510697 | BRCA2 | c.5620A>G (p.Ile1874Val) c.5251A>G (p.Ile1751Val) n.5620A>G | ClinVar dbSNP |
| 13 | g.32339975A>T | CA387786106 | BRCA2 | c.5620A>T (p.Ile1874Phe) c.5251A>T (p.Ile1751Phe) n.5620A>T | |
| 13 | g.32339976T>A | CA387786107 | BRCA2 | c.5621T>A (p.Ile1874Asn) c.5252T>A (p.Ile1751Asn) n.5621T>A | dbSNP |
| 13 | g.32339976T>C | CA387786108 | BRCA2 | c.5621T>C (p.Ile1874Thr) c.5252T>C (p.Ile1751Thr) n.5621T>C | ClinVar |
| 13 | g.32339976T>G | CA387786109 | BRCA2 | c.5621T>G (p.Ile1874Ser) c.5252T>G (p.Ile1751Ser) n.5621T>G | dbSNP gnomAD v4 |
| 13 | g.32339977dup | CA2499222206 | BRCA2 | c.5622dup (p.Lys1875Ter) c.5253dup (p.Lys1752Ter) n.5622dup | ClinVar dbSNP |
| 13 | g.32339976_32339980del | CA2499222205 | BRCA2 | c.5621_5625del (p.Ile1874ArgfsTer6) c.5252_5256del (p.Ile1751ArgfsTer6) n.5621_5625del | |
| 13 | g.32339976_32339983delinsTTAAGGAA | CA2082825402 | BRCA2 | c.5621_5628delinsTTAAGGAA (p.Ile1874=) c.5252_5259delinsTTAAGGAA (p.Ile1751=) n.5621_5628delinsTTAAGGAA | |
| 13 | g.32339976_32339977insA | CA2837995350 | BRCA2 | c.5621_5622insA (p.Lys1875Ter) c.5252_5253insA (p.Lys1752Ter) n.5621_5622insA | |
| 13 | g.32339977T>A | CA483438780 | BRCA2 | c.5622T>A (p.Ile1874=) c.5253T>A (p.Ile1751=) n.5622T>A | |
| 13 | g.32339977T>C | CA483438779 | BRCA2 | c.5622T>C (p.Ile1874=) c.5253T>C (p.Ile1751=) n.5622T>C | |
| 13 | g.32339977T>G | CA247510698 | BRCA2 | c.5622T>G (p.Ile1874Met) c.5253T>G (p.Ile1751Met) n.5622T>G | dbSNP gnomAD v4 |
| 13 | g.32339977T= | CA2082825412 | BRCA2 | c.5622T= (p.Ile1874=) c.5253T= (p.Ile1751=) n.5622T= | |
| 13 | g.32339977_32339978delinsTA | CA2082825409 | BRCA2 | c.5622_5623delinsTA (p.Ile1874=) c.5253_5254delinsTA (p.Ile1751=) n.5622_5623delinsTA | |
| 13 | g.32339977_32339980del | CA2499222207 | BRCA2 | c.5622_5625del (p.Ile1874MetfsTer?) c.5253_5256del (p.Ile1751MetfsTer?) n.5622_5625del | ClinVar dbSNP |
| 13 | g.32339977_32339983del | CA915948496 | BRCA2 | c.5622_5628del (p.Lys1875ThrfsTer?) c.5253_5259del (p.Lys1752ThrfsTer?) n.5622_5628del | ClinVar dbSNP |
| 13 | g.32339978A= | CA2082825418 | BRCA2 | c.5623A= (p.Lys1875=) c.5254A= (p.Lys1752=) n.5623A= | |
| 13 | g.32339978A>C | CA387786111 | BRCA2 | c.5623A>C (p.Lys1875Gln) c.5254A>C (p.Lys1752Gln) n.5623A>C | ClinVar dbSNP |
| 13 | g.32339978A>G | CA387786110 | BRCA2 | c.5623A>G (p.Lys1875Glu) c.5254A>G (p.Lys1752Glu) n.5623A>G | |
| 13 | g.32339978A>T | CA10589322 | BRCA2 | c.5623A>T (p.Lys1875Ter) c.5254A>T (p.Lys1752Ter) n.5623A>T | ClinVar dbSNP |
| 13 | g.32339979del | CA022733 | BRCA2 | c.5624del (p.Lys1875ArgfsTer?) c.5255del (p.Lys1752ArgfsTer?) n.5624del | ClinVar dbSNP |
| 13 | g.32339979A= | CA2082825428 | BRCA2 | c.5624A= (p.Lys1875=) c.5255A= (p.Lys1752=) n.5624A= | |
| 13 | g.32339979A>C | CA6940890 | BRCA2 | c.5624A>C (p.Lys1875Thr) c.5255A>C (p.Lys1752Thr) n.5624A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339979A>G | CA022730 | BRCA2 | c.5624A>G (p.Lys1875Arg) c.5255A>G (p.Lys1752Arg) n.5624A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339979A>T | CA387786112 | BRCA2 | c.5624A>T (p.Lys1875Met) c.5255A>T (p.Lys1752Met) n.5624A>T | |
| 13 | g.32339980G>A | CA483438784 | BRCA2 | c.5625G>A (p.Lys1875=) c.5256G>A (p.Lys1752=) n.5625G>A | dbSNP |
| 13 | g.32339980G>C | CA387786113 | BRCA2 | c.5625G>C (p.Lys1875Asn) c.5256G>C (p.Lys1752Asn) n.5625G>C | ClinVar dbSNP |
| 13 | g.32339980G= | CA2082825448 | BRCA2 | c.5625G= (p.Lys1875=) c.5256G= (p.Lys1752=) n.5625G= | |
| 13 | g.32339980G>T | CA387786114 | BRCA2 | c.5625G>T (p.Lys1875Asn) c.5256G>T (p.Lys1752Asn) n.5625G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339981G>A | CA022738 | BRCA2 | c.5626G>A (p.Glu1876Lys) c.5257G>A (p.Glu1753Lys) n.5626G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339981G>C | CA387786115 | BRCA2 | c.5626G>C (p.Glu1876Gln) c.5257G>C (p.Glu1753Gln) n.5626G>C | |
| 13 | g.32339981G= | CA2082825473 | BRCA2 | c.5626G= (p.Glu1876=) c.5257G= (p.Glu1753=) n.5626G= | |
| 13 | g.32339981G>T | CA022743 | BRCA2 | c.5626G>T (p.Glu1876Ter) c.5257G>T (p.Glu1753Ter) n.5626G>T | ClinVar dbSNP |
| 13 | g.32339981_32339982delinsGA | CA2082825485 | BRCA2 | c.5626_5627delinsGA (p.Glu1876=) c.5257_5258delinsGA (p.Glu1753=) n.5626_5627delinsGA | |
| 13 | g.32339982A>C | CA387786116 | BRCA2 | c.5627A>C (p.Glu1876Ala) c.5258A>C (p.Glu1753Ala) n.5627A>C | |
| 13 | g.32339982A>G | CA387786117 | BRCA2 | c.5627A>G (p.Glu1876Gly) c.5258A>G (p.Glu1753Gly) n.5627A>G | ClinVar dbSNP |
| 13 | g.32339982A>T | CA387786118 | BRCA2 | c.5627A>T (p.Glu1876Val) c.5258A>T (p.Glu1753Val) n.5627A>T | ClinVar dbSNP |
| 13 | g.32339985del | CA10579658 | BRCA2 | c.5630del (p.Asn1877ThrfsTer?) c.5261del (p.Asn1754ThrfsTer?) n.5630del | ClinVar dbSNP |