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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340254_32340258delinsAAGTC | CA2082828733 | BRCA2 | c.5899_5903delinsAAGTC (p.Lys1967=) c.5530_5534delinsAAGTC (p.Lys1844=) n.5899_5903delinsAAGTC | |
13 | g.32340259_32340262del | CA023357 | BRCA2 | c.5904_5907del (p.Val1969HisfsTer?) c.5535_5538del (p.Val1846HisfsTer?) n.5904_5907del | ClinVar dbSNP |
13 | g.32340258C>A | CA387787500 | BRCA2 | c.5903C>A (p.Ser1968Ter) c.5534C>A (p.Ser1845Ter) n.5903C>A | dbSNP gnomAD v4 |
13 | g.32340258C= | CA2082828778 | BRCA2 | c.5903C= (p.Ser1968=) c.5534C= (p.Ser1845=) n.5903C= | |
13 | g.32340258C>G | CA387787501 | BRCA2 | c.5903C>G (p.Ser1968Ter) c.5534C>G (p.Ser1845Ter) n.5903C>G | dbSNP |
13 | g.32340258C>T | CA023356 | BRCA2 | c.5903C>T (p.Ser1968Leu) c.5534C>T (p.Ser1845Leu) n.5903C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340259A>C | CA483439063 | BRCA2 | c.5904A>C (p.Ser1968=) c.5535A>C (p.Ser1845=) n.5904A>C | |
13 | g.32340259A>G | CA483439062 | BRCA2 | c.5904A>G (p.Ser1968=) c.5535A>G (p.Ser1845=) n.5904A>G | |
13 | g.32340259A>T | CA483439061 | BRCA2 | c.5904A>T (p.Ser1968=) c.5535A>T (p.Ser1845=) n.5904A>T | |
13 | g.32340259dup | CA10589335 | BRCA2 | c.5904dup (p.Val1969SerfsTer11) c.5535dup (p.Val1846SerfsTer11) n.5904dup | ClinVar dbSNP |
13 | g.32340260G>A | CA387787504 | BRCA2 | c.5905G>A (p.Val1969Ile) c.5536G>A (p.Val1846Ile) n.5905G>A | ClinVar dbSNP |
13 | g.32340260G>C | CA387787502 | BRCA2 | c.5905G>C (p.Val1969Leu) c.5536G>C (p.Val1846Leu) n.5905G>C | ClinVar dbSNP |
13 | g.32340260G= | CA2082828790 | BRCA2 | c.5905G= (p.Val1969=) c.5536G= (p.Val1846=) n.5905G= | |
13 | g.32340260G>T | CA387787503 | BRCA2 | c.5905G>T (p.Val1969Phe) c.5536G>T (p.Val1846Phe) n.5905G>T | |
13 | g.32340261_32340269del | CA2517023400 | BRCA2 | c.5906_5914del (p.Val1969_Ser1971del) c.5537_5545del (p.Val1846_Ser1848del) n.5906_5914del | |
13 | g.32340261T>A | CA387787505 | BRCA2 | c.5906T>A (p.Val1969Asp) c.5537T>A (p.Val1846Asp) n.5906T>A | |
13 | g.32340261T>C | CA387787506 | BRCA2 | c.5906T>C (p.Val1969Ala) c.5537T>C (p.Val1846Ala) n.5906T>C | |
13 | g.32340261T>G | CA387787507 | BRCA2 | c.5906T>G (p.Val1969Gly) c.5537T>G (p.Val1846Gly) n.5906T>G | |
13 | g.32340263_32340264del | CA2580614697 | BRCA2 | c.5908_5909del (p.Ser1970IlefsTer9) c.5539_5540del (p.Ser1847IlefsTer9) n.5908_5909del | ClinVar |
13 | g.32340262C>A | CA16606793 | BRCA2 | c.5907C>A (p.Val1969=) c.5538C>A (p.Val1846=) n.5907C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340262C= | CA2082828816 | BRCA2 | c.5907C= (p.Val1969=) c.5538C= (p.Val1846=) n.5907C= | |
13 | g.32340262C>G | CA023360 | BRCA2 | c.5907C>G (p.Val1969=) c.5538C>G (p.Val1846=) n.5907C>G | ClinVar dbSNP |
13 | g.32340262C>T | CA483439065 | BRCA2 | c.5907C>T (p.Val1969=) c.5538C>T (p.Val1846=) n.5907C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340263T>A | CA387787508 | BRCA2 | c.5908T>A (p.Ser1970Thr) c.5539T>A (p.Ser1847Thr) n.5908T>A | dbSNP |
13 | g.32340263T>C | CA387787509 | BRCA2 | c.5908T>C (p.Ser1970Pro) c.5539T>C (p.Ser1847Pro) n.5908T>C | dbSNP |
13 | g.32340263T>G | CA387787510 | BRCA2 | c.5908T>G (p.Ser1970Ala) c.5539T>G (p.Ser1847Ala) n.5908T>G | |
13 | g.32340264C>A | CA023362 | BRCA2 | c.5909C>A (p.Ser1970Ter) c.5540C>A (p.Ser1847Ter) n.5909C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340264C= | CA2082828825 | BRCA2 | c.5909C= (p.Ser1970=) c.5540C= (p.Ser1847=) n.5909C= | |
13 | g.32340264C>G | CA387787511 | BRCA2 | c.5909C>G (p.Ser1970Ter) c.5540C>G (p.Ser1847Ter) n.5909C>G | ClinVar dbSNP |
13 | g.32340264C>T | CA023364 | BRCA2 | c.5909C>T (p.Ser1970Leu) c.5540C>T (p.Ser1847Leu) n.5909C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340265A= | CA2082828841 | BRCA2 | c.5910A= (p.Ser1970=) c.5541A= (p.Ser1847=) n.5910A= | |
13 | g.32340265A>C | CA483439066 | BRCA2 | c.5910A>C (p.Ser1970=) c.5541A>C (p.Ser1847=) n.5910A>C | ClinVar dbSNP |
13 | g.32340265A>G | CA10579671 | BRCA2 | c.5910A>G (p.Ser1970=) c.5541A>G (p.Ser1847=) n.5910A>G | ClinVar dbSNP |
13 | g.32340265A>T | CA483439067 | BRCA2 | c.5910A>T (p.Ser1970=) c.5541A>T (p.Ser1847=) n.5910A>T | dbSNP |
13 | g.32340265dup | CA1139770797 | BRCA2 | c.5910dup (p.Ser1971IlefsTer9) c.5541dup (p.Ser1848IlefsTer9) n.5910dup | |
13 | g.32340265_32340266delinsAT | CA2082828859 | BRCA2 | c.5910_5911delinsAT (p.Ser1970=) c.5541_5542delinsAT (p.Ser1847=) n.5910_5911delinsAT | |
13 | g.32340266del | CA658653656 | BRCA2 | c.5911del (p.Ser1971LeufsTer?) c.5542del (p.Ser1848LeufsTer?) n.5911del | ClinVar dbSNP |
13 | g.32340266T>A | CA387787514 | BRCA2 | c.5911T>A (p.Ser1971Thr) c.5542T>A (p.Ser1848Thr) n.5911T>A | dbSNP |
13 | g.32340266T>C | CA387787513 | BRCA2 | c.5911T>C (p.Ser1971Pro) c.5542T>C (p.Ser1848Pro) n.5911T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340266T>G | CA387787512 | BRCA2 | c.5911T>G (p.Ser1971Ala) c.5542T>G (p.Ser1848Ala) n.5911T>G | |
13 | g.32340266T= | CA2082828868 | BRCA2 | c.5911T= (p.Ser1971=) c.5542T= (p.Ser1848=) n.5911T= | |
13 | g.32340266_32340267delinsTC | CA2082828870 | BRCA2 | c.5911_5912delinsTC (p.Ser1971=) c.5542_5543delinsTC (p.Ser1848=) n.5911_5912delinsTC | |
13 | g.32340267del | CA658653657 | BRCA2 | c.5912del (p.Ser1971LeufsTer?) c.5543del (p.Ser1848LeufsTer?) n.5912del | ClinVar dbSNP gnomAD v4 |
13 | g.32340267C>A | CA387787515 | BRCA2 | c.5912C>A (p.Ser1971Tyr) c.5543C>A (p.Ser1848Tyr) n.5912C>A | dbSNP |
13 | g.32340267C= | CA2082828886 | BRCA2 | c.5912C= (p.Ser1971=) c.5543C= (p.Ser1848=) n.5912C= | |
13 | g.32340267C>G | CA387787517 | BRCA2 | c.5912C>G (p.Ser1971Cys) c.5543C>G (p.Ser1848Cys) n.5912C>G | ClinVar dbSNP |
13 | g.32340267C>T | CA387787516 | BRCA2 | c.5912C>T (p.Ser1971Phe) c.5543C>T (p.Ser1848Phe) n.5912C>T | ClinVar dbSNP |
13 | g.32340267_32340268delinsCT | CA2082828881 | BRCA2 | c.5912_5913delinsCT (p.Ser1971=) c.5543_5544delinsCT (p.Ser1848=) n.5912_5913delinsCT | |
13 | g.32340268del | CA919242595 | BRCA2 | c.5913del (p.Ala1972GlnfsTer?) c.5544del (p.Ala1849GlnfsTer?) n.5913del | dbSNP |
13 | g.32340268T>A | CA483439072 | BRCA2 | c.5913T>A (p.Ser1971=) c.5544T>A (p.Ser1848=) n.5913T>A | dbSNP |
13 | g.32340268T>C | CA6940911 | BRCA2 | c.5913T>C (p.Ser1971=) c.5544T>C (p.Ser1848=) n.5913T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340268T>G | CA483439073 | BRCA2 | c.5913T>G (p.Ser1971=) c.5544T>G (p.Ser1848=) n.5913T>G | dbSNP |
13 | g.32340268T= | CA2082828901 | BRCA2 | c.5913T= (p.Ser1971=) c.5544T= (p.Ser1848=) n.5913T= | |
13 | g.32340269G>A | CA387787518 | BRCA2 | c.5914G>A (p.Ala1972Thr) c.5545G>A (p.Ala1849Thr) n.5914G>A | dbSNP |
13 | g.32340269G>C | CA16619733 | BRCA2 | c.5914G>C (p.Ala1972Pro) c.5545G>C (p.Ala1849Pro) n.5914G>C | ClinVar dbSNP |
13 | g.32340269G= | CA2082828914 | BRCA2 | c.5914G= (p.Ala1972=) c.5545G= (p.Ala1849=) n.5914G= | |
13 | g.32340269G>T | CA387787519 | BRCA2 | c.5914G>T (p.Ala1972Ser) c.5545G>T (p.Ala1849Ser) n.5914G>T | dbSNP |
13 | g.32340270C>A | CA387787520 | BRCA2 | c.5915C>A (p.Ala1972Glu) c.5546C>A (p.Ala1849Glu) n.5915C>A | dbSNP |
13 | g.32340270C>G | CA387787522 | BRCA2 | c.5915C>G (p.Ala1972Gly) c.5546C>G (p.Ala1849Gly) n.5915C>G | |
13 | g.32340270C>T | CA387787521 | BRCA2 | c.5915C>T (p.Ala1972Val) c.5546C>T (p.Ala1849Val) n.5915C>T | ClinVar dbSNP |
13 | g.32340270_32340271delinsCA | CA2082828919 | BRCA2 | c.5915_5916delinsCA (p.Ala1972=) c.5546_5547delinsCA (p.Ala1849=) n.5915_5916delinsCA | |
13 | g.32340271A= | CA2082828926 | BRCA2 | c.5916A= (p.Ala1972=) c.5547A= (p.Ala1849=) n.5916A= | |
13 | g.32340271A>C | CA483439075 | BRCA2 | c.5916A>C (p.Ala1972=) c.5547A>C (p.Ala1849=) n.5916A>C | ClinVar dbSNP |
13 | g.32340271A>G | CA483439076 | BRCA2 | c.5916A>G (p.Ala1972=) c.5547A>G (p.Ala1849=) n.5916A>G | dbSNP |
13 | g.32340271A>T | CA483439077 | BRCA2 | c.5916A>T (p.Ala1972=) c.5547A>T (p.Ala1849=) n.5916A>T | dbSNP |
13 | g.32340273del | CA10589336 | BRCA2 | c.5918del (p.Asn1973IlefsTer?) c.5549del (p.Asn1850IlefsTer?) n.5918del | ClinVar dbSNP |
13 | g.32340272A= | CA2082828968 | BRCA2 | c.5917A= (p.Asn1973=) c.5548A= (p.Asn1850=) n.5917A= | |
13 | g.32340272A>C | CA387787523 | BRCA2 | c.5917A>C (p.Asn1973His) c.5548A>C (p.Asn1850His) n.5917A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340272A>G | CA387787524 | BRCA2 | c.5917A>G (p.Asn1973Asp) c.5548A>G (p.Asn1850Asp) n.5917A>G | ClinVar dbSNP |
13 | g.32340272A>T | CA387787525 | BRCA2 | c.5917A>T (p.Asn1973Tyr) c.5548A>T (p.Asn1850Tyr) n.5917A>T | ClinVar dbSNP |
13 | g.32340273A>C | CA387787526 | BRCA2 | c.5918A>C (p.Asn1973Thr) c.5549A>C (p.Asn1850Thr) n.5918A>C | |
13 | g.32340273A>G | CA387787527 | BRCA2 | c.5918A>G (p.Asn1973Ser) c.5549A>G (p.Asn1850Ser) n.5918A>G | |
13 | g.32340273A>T | CA387787528 | BRCA2 | c.5918A>T (p.Asn1973Ile) c.5549A>T (p.Asn1850Ile) n.5918A>T | ClinVar dbSNP |
13 | g.32340273_32340274delinsAT | CA2082828975 | BRCA2 | c.5918_5919delinsAT (p.Asn1973=) c.5549_5550delinsAT (p.Asn1850=) n.5918_5919delinsAT | |
13 | g.32340274del | CA10589337 | BRCA2 | c.5919del (p.Asn1973LysfsTer?) c.5550del (p.Asn1850LysfsTer?) n.5919del | ClinVar dbSNP |
13 | g.32340274T>A | CA387787529 | BRCA2 | c.5919T>A (p.Asn1973Lys) c.5550T>A (p.Asn1850Lys) n.5919T>A | dbSNP |
13 | g.32340274T>C | CA023366 | BRCA2 | c.5919T>C (p.Asn1973=) c.5550T>C (p.Asn1850=) n.5919T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340274T>G | CA387787530 | BRCA2 | c.5919T>G (p.Asn1973Lys) c.5550T>G (p.Asn1850Lys) n.5919T>G | dbSNP |
13 | g.32340274T= | CA2082828980 | BRCA2 | c.5919T= (p.Asn1973=) c.5550T= (p.Asn1850=) n.5919T= | |
13 | g.32340275A>C | CA387787533 | BRCA2 | c.5920A>C (p.Thr1974Pro) c.5551A>C (p.Thr1851Pro) n.5920A>C | dbSNP |
13 | g.32340275A>G | CA387787531 | BRCA2 | c.5920A>G (p.Thr1974Ala) c.5551A>G (p.Thr1851Ala) n.5920A>G | dbSNP |
13 | g.32340275A>T | CA387787532 | BRCA2 | c.5920A>T (p.Thr1974Ser) c.5551A>T (p.Thr1851Ser) n.5920A>T | ClinVar dbSNP |
13 | g.32340276C>A | CA387787534 | BRCA2 | c.5921C>A (p.Thr1974Asn) c.5552C>A (p.Thr1851Asn) n.5921C>A | dbSNP |
13 | g.32340276C= | CA2082828984 | BRCA2 | c.5921C= (p.Thr1974=) c.5552C= (p.Thr1851=) n.5921C= | |
13 | g.32340276C>G | CA387787535 | BRCA2 | c.5921C>G (p.Thr1974Ser) c.5552C>G (p.Thr1851Ser) n.5921C>G | ClinVar dbSNP |
13 | g.32340276C>T | CA023368 | BRCA2 | c.5921C>T (p.Thr1974Ile) c.5552C>T (p.Thr1851Ile) n.5921C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340276dup | CA913188520 | BRCA2 | c.5921dup (p.Cys1975LeufsTer5) c.5552dup (p.Cys1852LeufsTer5) n.5921dup | ClinVar |
13 | g.32340277T>A | CA483439080 | BRCA2 | c.5922T>A (p.Thr1974=) c.5553T>A (p.Thr1851=) n.5922T>A | dbSNP |
13 | g.32340277T>C | CA023370 | BRCA2 | c.5922T>C (p.Thr1974=) c.5553T>C (p.Thr1851=) n.5922T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340277T>G | CA483439081 | BRCA2 | c.5922T>G (p.Thr1974=) c.5553T>G (p.Thr1851=) n.5922T>G | |
13 | g.32340277T= | CA2082828991 | BRCA2 | c.5922T= (p.Thr1974=) c.5553T= (p.Thr1851=) n.5922T= | |
13 | g.32340278T>A | CA387787536 | BRCA2 | c.5923T>A (p.Cys1975Ser) c.5554T>A (p.Cys1852Ser) n.5923T>A | dbSNP |
13 | g.32340278T>C | CA387787537 | BRCA2 | c.5923T>C (p.Cys1975Arg) c.5554T>C (p.Cys1852Arg) n.5923T>C | ClinVar dbSNP |
13 | g.32340278T>G | CA387787538 | BRCA2 | c.5923T>G (p.Cys1975Gly) c.5554T>G (p.Cys1852Gly) n.5923T>G | dbSNP |
13 | g.32340278T= | CA2082828994 | BRCA2 | c.5923T= (p.Cys1975=) c.5554T= (p.Cys1852=) n.5923T= | |
13 | g.32340279G>A | CA387787539 | BRCA2 | c.5924G>A (p.Cys1975Tyr) c.5555G>A (p.Cys1852Tyr) n.5924G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340279G>C | CA6940912 | BRCA2 | c.5924G>C (p.Cys1975Ser) c.5555G>C (p.Cys1852Ser) n.5924G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340279G= | CA2082829006 | BRCA2 | c.5924G= (p.Cys1975=) c.5555G= (p.Cys1852=) n.5924G= | |
13 | g.32340279G>T | CA387787540 | BRCA2 | c.5924G>T (p.Cys1975Phe) c.5555G>T (p.Cys1852Phe) n.5924G>T | dbSNP |
13 | g.32340279dup | CA919242598 | BRCA2 | c.5924dup (p.Cys1975TrpfsTer5) c.5555dup (p.Cys1852TrpfsTer5) n.5924dup | dbSNP |
13 | g.32340279_32340280delinsGT | CA2082829017 | BRCA2 | c.5924_5925delinsGT (p.Cys1975=) c.5555_5556delinsGT (p.Cys1852=) n.5924_5925delinsGT | |
13 | g.32340280del | CA658683862 | BRCA2 | c.5925del (p.Cys1975TrpfsTer29) c.5556del (p.Cys1852TrpfsTer29) n.5925del | ClinVar dbSNP |
13 | g.32340280T>A | CA023372 | BRCA2 | c.5925T>A (p.Cys1975Ter) c.5556T>A (p.Cys1852Ter) n.5925T>A | ClinVar dbSNP |
13 | g.32340280T>C | CA6940913 | BRCA2 | c.5925T>C (p.Cys1975=) c.5556T>C (p.Cys1852=) n.5925T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340280T>G | CA023374 | BRCA2 | c.5925T>G (p.Cys1975Trp) c.5556T>G (p.Cys1852Trp) n.5925T>G | ClinVar dbSNP |
13 | g.32340280T= | CA2082829039 | BRCA2 | c.5925T= (p.Cys1975=) c.5556T= (p.Cys1852=) n.5925T= | |
13 | g.32340280_32340281delinsTG | CA2082829028 | BRCA2 | c.5925_5926delinsTG (p.Cys1975=) c.5556_5557delinsTG (p.Cys1852=) n.5925_5926delinsTG | |
13 | g.32340281G>A | CA023376 | BRCA2 | c.5926G>A (p.Gly1976Arg) c.5557G>A (p.Gly1853Arg) n.5926G>A | ClinVar dbSNP |
13 | g.32340281G>C | CA387787541 | BRCA2 | c.5926G>C (p.Gly1976Arg) c.5557G>C (p.Gly1853Arg) n.5926G>C | dbSNP |
13 | g.32340281G= | CA2082829054 | BRCA2 | c.5926G= (p.Gly1976=) c.5557G= (p.Gly1853=) n.5926G= | |
13 | g.32340281G>T | CA387787542 | BRCA2 | c.5926G>T (p.Gly1976Trp) c.5557G>T (p.Gly1853Trp) n.5926G>T | dbSNP |
13 | g.32340283del | CA915948500 | BRCA2 | c.5928del (p.Ile1977PhefsTer27) c.5559del (p.Ile1854PhefsTer27) n.5928del | ClinVar dbSNP |
13 | g.32340282G>A | CA6940914 | BRCA2 | c.5927G>A (p.Gly1976Glu) c.5558G>A (p.Gly1853Glu) n.5927G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340282G>C | CA387787543 | BRCA2 | c.5927G>C (p.Gly1976Ala) c.5558G>C (p.Gly1853Ala) n.5927G>C | dbSNP |
13 | g.32340282G= | CA2082829060 | BRCA2 | c.5927G= (p.Gly1976=) c.5558G= (p.Gly1853=) n.5927G= | |
13 | g.32340282G>T | CA023378 | BRCA2 | c.5927G>T (p.Gly1976Val) c.5558G>T (p.Gly1853Val) n.5927G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340283G>A | CA483439086 | BRCA2 | c.5928G>A (p.Gly1976=) c.5559G>A (p.Gly1853=) n.5928G>A | dbSNP |
13 | g.32340283G>C | CA483439087 | BRCA2 | c.5928G>C (p.Gly1976=) c.5559G>C (p.Gly1853=) n.5928G>C | dbSNP |
13 | g.32340283G= | CA2082829071 | BRCA2 | c.5928G= (p.Gly1976=) c.5559G= (p.Gly1853=) n.5928G= | |
13 | g.32340283G>T | CA023380 | BRCA2 | c.5928G>T (p.Gly1976=) c.5559G>T (p.Gly1853=) n.5928G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340284A= | CA2082829090 | BRCA2 | c.5929A= (p.Ile1977=) c.5560A= (p.Ile1854=) n.5929A= | |
13 | g.32340284A>C | CA387787544 | BRCA2 | c.5929A>C (p.Ile1977Leu) c.5560A>C (p.Ile1854Leu) n.5929A>C | |
13 | g.32340284A>G | CA387787545 | BRCA2 | c.5929A>G (p.Ile1977Val) c.5560A>G (p.Ile1854Val) n.5929A>G | ClinVar dbSNP |
13 | g.32340284A>T | CA387787546 | BRCA2 | c.5929A>T (p.Ile1977Phe) c.5560A>T (p.Ile1854Phe) n.5929A>T | gnomAD v4 |
13 | g.32340284_32340285delinsAT | CA2082829089 | BRCA2 | c.5929_5930delinsAT (p.Ile1977=) c.5560_5561delinsAT (p.Ile1854=) n.5929_5930delinsAT | |
13 | g.32340285T>A | CA387787547 | BRCA2 | c.5930T>A (p.Ile1977Asn) c.5561T>A (p.Ile1854Asn) n.5930T>A | ClinVar dbSNP |
13 | g.32340285T>C | CA387787548 | BRCA2 | c.5930T>C (p.Ile1977Thr) c.5561T>C (p.Ile1854Thr) n.5930T>C | |
13 | g.32340285T>G | CA387787549 | BRCA2 | c.5930T>G (p.Ile1977Ser) c.5561T>G (p.Ile1854Ser) n.5930T>G | dbSNP |
13 | g.32340285T= | CA2082829110 | BRCA2 | c.5930T= (p.Ile1977=) c.5561T= (p.Ile1854=) n.5930T= | |
13 | g.32340289dup | CA023382 | BRCA2 | c.5934dup (p.Ser1979Ter) c.5565dup (p.Ser1856Ter) n.5934dup | ClinVar dbSNP gnomAD v4 |
13 | g.32340289del | CA2082829107 | BRCA2 | c.5934del (p.Phe1978LeufsTer26) c.5565del (p.Phe1855LeufsTer26) n.5934del | ClinVar dbSNP |
13 | g.32340286T>A | CA483439089 | BRCA2 | c.5931T>A (p.Ile1977=) c.5562T>A (p.Ile1854=) n.5931T>A | dbSNP |
13 | g.32340286T>C | CA483439090 | BRCA2 | c.5931T>C (p.Ile1977=) c.5562T>C (p.Ile1854=) n.5931T>C | |
13 | g.32340286T>G | CA387787550 | BRCA2 | c.5931T>G (p.Ile1977Met) c.5562T>G (p.Ile1854Met) n.5931T>G | |
13 | g.32340287T>A | CA387787551 | BRCA2 | c.5932T>A (p.Phe1978Ile) c.5563T>A (p.Phe1855Ile) n.5932T>A | |
13 | g.32340287T>C | CA387787552 | BRCA2 | c.5932T>C (p.Phe1978Leu) c.5563T>C (p.Phe1855Leu) n.5932T>C | |
13 | g.32340287T>G | CA348922 | BRCA2 | c.5932T>G (p.Phe1978Val) c.5563T>G (p.Phe1855Val) n.5932T>G | ClinVar dbSNP |
13 | g.32340287T= | CA2082829121 | BRCA2 | c.5932T= (p.Phe1978=) c.5563T= (p.Phe1855=) n.5932T= | |
13 | g.32340288T>A | CA387787553 | BRCA2 | c.5933T>A (p.Phe1978Tyr) c.5564T>A (p.Phe1855Tyr) n.5933T>A | dbSNP |
13 | g.32340288T>C | CA387787554 | BRCA2 | c.5933T>C (p.Phe1978Ser) c.5564T>C (p.Phe1855Ser) n.5933T>C | ClinVar |
13 | g.32340288T>G | CA387787555 | BRCA2 | c.5933T>G (p.Phe1978Cys) c.5564T>G (p.Phe1855Cys) n.5933T>G | |
13 | g.32340289T>A | CA387787556 | BRCA2 | c.5934T>A (p.Phe1978Leu) c.5565T>A (p.Phe1855Leu) n.5934T>A | dbSNP |
13 | g.32340289T>C | CA023384 | BRCA2 | c.5934T>C (p.Phe1978=) c.5565T>C (p.Phe1855=) n.5934T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340289T>G | CA387787557 | BRCA2 | c.5934T>G (p.Phe1978Leu) c.5565T>G (p.Phe1855Leu) n.5934T>G | |
13 | g.32340289T= | CA2082829132 | BRCA2 | c.5934T= (p.Phe1978=) c.5565T= (p.Phe1855=) n.5934T= | |
13 | g.32340290A= | CA2082829138 | BRCA2 | c.5935A= (p.Ser1979=) c.5566A= (p.Ser1856=) n.5935A= | |
13 | g.32340290A>C | CA387787558 | BRCA2 | c.5935A>C (p.Ser1979Arg) c.5566A>C (p.Ser1856Arg) n.5935A>C | |
13 | g.32340290A>G | CA387787559 | BRCA2 | c.5935A>G (p.Ser1979Gly) c.5566A>G (p.Ser1856Gly) n.5935A>G | ClinVar dbSNP |
13 | g.32340290A>T | CA387787560 | BRCA2 | c.5935A>T (p.Ser1979Cys) c.5566A>T (p.Ser1856Cys) n.5935A>T | dbSNP |
13 | g.32340290dup | CA2499222217 | BRCA2 | c.5935dup (p.Ser1979LysfsTer24) c.5566dup (p.Ser1856LysfsTer24) n.5935dup | |
13 | g.32340294_32340298del | CA1139768341 | BRCA2 | c.5939_5943del (p.Thr1980LysfsTer21) c.5570_5574del (p.Thr1857LysfsTer21) n.5939_5943del | |
13 | g.32340290_32340291insT | CA10586545 | BRCA2 | c.5935_5936insT (p.Ser1979MetfsTer24) c.5566_5567insT (p.Ser1856MetfsTer24) n.5935_5936insT | ClinVar dbSNP |
13 | g.32340291G>A | CA501053 | BRCA2 | c.5936G>A (p.Ser1979Asn) c.5567G>A (p.Ser1856Asn) n.5936G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340291G>C | CA387787562 | BRCA2 | c.5936G>C (p.Ser1979Thr) c.5567G>C (p.Ser1856Thr) n.5936G>C | dbSNP |
13 | g.32340291G= | CA2082829150 | BRCA2 | c.5936G= (p.Ser1979=) c.5567G= (p.Ser1856=) n.5936G= | |
13 | g.32340291G>T | CA387787561 | BRCA2 | c.5936G>T (p.Ser1979Ile) c.5567G>T (p.Ser1856Ile) n.5936G>T | dbSNP |
13 | g.32340292C>A | CA387787563 | BRCA2 | c.5937C>A (p.Ser1979Arg) c.5568C>A (p.Ser1856Arg) n.5937C>A | dbSNP |
13 | g.32340292C= | CA2082829160 | BRCA2 | c.5937C= (p.Ser1979=) c.5568C= (p.Ser1856=) n.5937C= | |
13 | g.32340292C>G | CA023388 | BRCA2 | c.5937C>G (p.Ser1979Arg) c.5568C>G (p.Ser1856Arg) n.5937C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340292C>T | CA483438914 | BRCA2 | c.5937C>T (p.Ser1979=) c.5568C>T (p.Ser1856=) n.5937C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340292_32340293delinsCA | CA2082829162 | BRCA2 | c.5937_5938delinsCA (p.Ser1979=) c.5568_5569delinsCA (p.Ser1856=) n.5937_5938delinsCA | |
13 | g.32340293del | CA919242601 | BRCA2 | c.5938del (p.Thr1980GlnfsTer24) c.5569del (p.Thr1857GlnfsTer24) n.5938del | dbSNP |
13 | g.32340293A= | CA2082829174 | BRCA2 | c.5938A= (p.Thr1980=) c.5569A= (p.Thr1857=) n.5938A= | |
13 | g.32340293A>C | CA6940915 | BRCA2 | c.5938A>C (p.Thr1980Pro) c.5569A>C (p.Thr1857Pro) n.5938A>C | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32340293A>G | CA387787564 | BRCA2 | c.5938A>G (p.Thr1980Ala) c.5569A>G (p.Thr1857Ala) n.5938A>G | dbSNP |
13 | g.32340293A>T | CA387787565 | BRCA2 | c.5938A>T (p.Thr1980Ser) c.5569A>T (p.Thr1857Ser) n.5938A>T | dbSNP |
13 | g.32340294C>A | CA387787566 | BRCA2 | c.5939C>A (p.Thr1980Lys) c.5570C>A (p.Thr1857Lys) n.5939C>A | dbSNP |
13 | g.32340294C= | CA2082829183 | BRCA2 | c.5939C= (p.Thr1980=) c.5570C= (p.Thr1857=) n.5939C= | |
13 | g.32340294C>G | CA387787567 | BRCA2 | c.5939C>G (p.Thr1980Arg) c.5570C>G (p.Thr1857Arg) n.5939C>G | dbSNP |
13 | g.32340294C>T | CA023390 | BRCA2 | c.5939C>T (p.Thr1980Ile) c.5570C>T (p.Thr1857Ile) n.5939C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340295A>C | CA483438916 | BRCA2 | c.5940A>C (p.Thr1980=) c.5571A>C (p.Thr1857=) n.5940A>C | |
13 | g.32340295A>G | CA483438917 | BRCA2 | c.5940A>G (p.Thr1980=) c.5571A>G (p.Thr1857=) n.5940A>G | dbSNP |
13 | g.32340295A>T | CA483438918 | BRCA2 | c.5940A>T (p.Thr1980=) c.5571A>T (p.Thr1857=) n.5940A>T | |
13 | g.32340296G>A | CA387787568 | BRCA2 | c.5941G>A (p.Ala1981Thr) c.5572G>A (p.Ala1858Thr) n.5941G>A | ClinVar dbSNP |
13 | g.32340296G>C | CA387787569 | BRCA2 | c.5941G>C (p.Ala1981Pro) c.5572G>C (p.Ala1858Pro) n.5941G>C | ClinVar dbSNP |
13 | g.32340296G>T | CA387787570 | BRCA2 | c.5941G>T (p.Ala1981Ser) c.5572G>T (p.Ala1858Ser) n.5941G>T | dbSNP COSMIC COSMIC |
13 | g.32340297C>A | CA387787571 | BRCA2 | c.5942C>A (p.Ala1981Glu) c.5573C>A (p.Ala1858Glu) n.5942C>A | dbSNP gnomAD v4 |
13 | g.32340297C= | CA2082829188 | BRCA2 | c.5942C= (p.Ala1981=) c.5573C= (p.Ala1858=) n.5942C= | |
13 | g.32340297C>G | CA387787572 | BRCA2 | c.5942C>G (p.Ala1981Gly) c.5573C>G (p.Ala1858Gly) n.5942C>G | ClinVar dbSNP |
13 | g.32340297C>T | CA387787573 | BRCA2 | c.5942C>T (p.Ala1981Val) c.5573C>T (p.Ala1858Val) n.5942C>T | dbSNP |
13 | g.32340297dup | CA2622599266 | BRCA2 | c.5942dup (p.Ser1982LysfsTer21) c.5573dup (p.Ser1859LysfsTer21) n.5942dup | gnomAD v4 |
13 | g.32340297_32340298delinsCA | CA2082829190 | BRCA2 | c.5942_5943delinsCA (p.Ala1981=) c.5573_5574delinsCA (p.Ala1858=) n.5942_5943delinsCA | |
13 | g.32340298A>C | CA483438922 | BRCA2 | c.5943A>C (p.Ala1981=) c.5574A>C (p.Ala1858=) n.5943A>C | ClinVar dbSNP |
13 | g.32340298A>G | CA483438923 | BRCA2 | c.5943A>G (p.Ala1981=) c.5574A>G (p.Ala1858=) n.5943A>G | |
13 | g.32340298A>T | CA483438924 | BRCA2 | c.5943A>T (p.Ala1981=) c.5574A>T (p.Ala1858=) n.5943A>T | dbSNP |
13 | g.32340299dup | CA915948501 | BRCA2 | c.5944dup (p.Ser1982LysfsTer21) c.5575dup (p.Ser1859LysfsTer21) n.5944dup | ClinVar dbSNP |
13 | g.32340299del | CA023392 | BRCA2 | c.5944del (p.Ser1982ValfsTer22) c.5575del (p.Ser1859ValfsTer22) n.5944del | ClinVar dbSNP |
13 | g.32340299A= | CA2082829205 | BRCA2 | c.5944A= (p.Ser1982=) c.5575A= (p.Ser1859=) n.5944A= | |
13 | g.32340299A>C | CA387787574 | BRCA2 | c.5944A>C (p.Ser1982Arg) c.5575A>C (p.Ser1859Arg) n.5944A>C | |
13 | g.32340299A>G | CA387787576 | BRCA2 | c.5944A>G (p.Ser1982Gly) c.5575A>G (p.Ser1859Gly) n.5944A>G | ClinVar dbSNP |
13 | g.32340299A>T | CA387787575 | BRCA2 | c.5944A>T (p.Ser1982Cys) c.5575A>T (p.Ser1859Cys) n.5944A>T | dbSNP |
13 | g.32340391_32340392insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | CA2580087783 | BRCA2 | c.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys2013Ter) c.5667_5668insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys1890Ter) n.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | ClinVar |
13 | g.32340300G>A | CA6940916 | BRCA2 | c.5945G>A (p.Ser1982Asn) c.5576G>A (p.Ser1859Asn) n.5945G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340300G>C | CA023396 | BRCA2 | c.5945G>C (p.Ser1982Thr) c.5576G>C (p.Ser1859Thr) n.5945G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340300G= | CA2082829211 | BRCA2 | c.5945G= (p.Ser1982=) c.5576G= (p.Ser1859=) n.5945G= | |
13 | g.32340300G>T | CA387787577 | BRCA2 | c.5945G>T (p.Ser1982Ile) c.5576G>T (p.Ser1859Ile) n.5945G>T | |
13 | g.32340300dup | CA023394 | BRCA2 | c.5945dup (p.Ser1982ArgfsTer21) c.5576dup (p.Ser1859ArgfsTer21) n.5945dup | ClinVar dbSNP |
13 | g.32340300_32340301delinsGT | CA2082829220 | BRCA2 | c.5945_5946delinsGT (p.Ser1982=) c.5576_5577delinsGT (p.Ser1859=) n.5945_5946delinsGT | |
13 | g.32340300_32340304delinsGTGGA | CA2082829217 | BRCA2 | c.5945_5949delinsGTGGA (p.Ser1982=) c.5576_5580delinsGTGGA (p.Ser1859=) n.5945_5949delinsGTGGA | |
13 | g.32340300_32340305delinsGTGGAA | CA2082829232 | BRCA2 | c.5945_5950delinsGTGGAA (p.Ser1982=) c.5576_5581delinsGTGGAA (p.Ser1859=) n.5945_5950delinsGTGGAA | |
13 | g.32340301del | CA023403 | BRCA2 | c.5946del (p.Ser1982ArgfsTer22) c.5577del (p.Ser1859ArgfsTer22) n.5946del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340301T>A | CA387787578 | BRCA2 | c.5946T>A (p.Ser1982Arg) c.5577T>A (p.Ser1859Arg) n.5946T>A | |
13 | g.32340301T>C | CA483438926 | BRCA2 | c.5946T>C (p.Ser1982=) c.5577T>C (p.Ser1859=) n.5946T>C | ClinVar dbSNP |
13 | g.32340301T>G | CA387787579 | BRCA2 | c.5946T>G (p.Ser1982Arg) c.5577T>G (p.Ser1859Arg) n.5946T>G | dbSNP |
13 | g.32340301T= | CA2581132429 | BRCA2 | c.5946T= (p.Ser1982=) c.5577T= (p.Ser1859=) n.5946T= | |
13 | g.32340301_32340302delinsTG | CA2082829252 | BRCA2 | c.5946_5947delinsTG (p.Ser1982=) c.5577_5578delinsTG (p.Ser1859=) n.5946_5947delinsTG | |
13 | g.32340301_32340304del | CA023398 | BRCA2 | c.5946_5949del (p.Ser1982ArgfsTer21) c.5577_5580del (p.Ser1859ArgfsTer21) n.5946_5949del | ClinVar dbSNP |
13 | g.32340301_32340305del | CA023400 | BRCA2 | c.5946_5950del (p.Ser1982ArgfsTer19) c.5577_5581del (p.Ser1859ArgfsTer19) n.5946_5950del | ClinVar dbSNP |
13 | g.32340302G>A | CA387787581 | BRCA2 | c.5947G>A (p.Gly1983Arg) c.5578G>A (p.Gly1860Arg) n.5947G>A | ClinVar dbSNP |
13 | g.32340302G>C | CA387787582 | BRCA2 | c.5947G>C (p.Gly1983Arg) c.5578G>C (p.Gly1860Arg) n.5947G>C | |
13 | g.32340302G= | CA2082829267 | BRCA2 | c.5947G= (p.Gly1983=) c.5578G= (p.Gly1860=) n.5947G= | |
13 | g.32340302G>T | CA387787580 | BRCA2 | c.5947G>T (p.Gly1983Ter) c.5578G>T (p.Gly1860Ter) n.5947G>T | ClinVar dbSNP |
13 | g.32340303del | CA10589338 | BRCA2 | c.5948del (p.Gly1983GlufsTer21) c.5579del (p.Gly1860GlufsTer21) n.5948del | ClinVar dbSNP |
13 | g.32340304_32340317del | CA2838032185 | BRCA2 | c.5949_5962del (p.Lys1984IlefsTer14) c.5580_5593del (p.Lys1861IlefsTer14) n.5949_5962del | |
13 | g.32340303G>A | CA387787583 | BRCA2 | c.5948G>A (p.Gly1983Glu) c.5579G>A (p.Gly1860Glu) n.5948G>A | dbSNP |
13 | g.32340303G>C | CA387787584 | BRCA2 | c.5948G>C (p.Gly1983Ala) c.5579G>C (p.Gly1860Ala) n.5948G>C | dbSNP |
13 | g.32340303G>T | CA387787585 | BRCA2 | c.5948G>T (p.Gly1983Val) c.5579G>T (p.Gly1860Val) n.5948G>T | dbSNP |
13 | g.32340303_32340305delinsGAA | CA2082829279 | BRCA2 | c.5948_5950delinsGAA (p.Gly1983=) c.5579_5581delinsGAA (p.Gly1860=) n.5948_5950delinsGAA | |
13 | g.32340304A= | CA2082829290 | BRCA2 | c.5949A= (p.Gly1983=) c.5580A= (p.Gly1860=) n.5949A= | |
13 | g.32340304A>C | CA483438929 | BRCA2 | c.5949A>C (p.Gly1983=) c.5580A>C (p.Gly1860=) n.5949A>C | |
13 | g.32340304A>G | CA483438930 | BRCA2 | c.5949A>G (p.Gly1983=) c.5580A>G (p.Gly1860=) n.5949A>G | ClinVar dbSNP |
13 | g.32340304A>T | CA483438931 | BRCA2 | c.5949A>T (p.Gly1983=) c.5580A>T (p.Gly1860=) n.5949A>T | dbSNP |
13 | g.32340307dup | CA023405 | BRCA2 | c.5952dup (p.Ser1985IlefsTer18) c.5583dup (p.Ser1862IlefsTer18) n.5952dup | ClinVar dbSNP |
13 | g.32340307del | CA2739291768 | BRCA2 | c.5952del (p.Lys1984AsnfsTer20) c.5583del (p.Lys1861AsnfsTer20) n.5952del | |
13 | g.32340306_32340307del | CA919242604 | BRCA2 | c.5951_5952del (p.Lys1984IlefsTer18) c.5582_5583del (p.Lys1861IlefsTer18) n.5951_5952del | dbSNP |
13 | g.32340305A>C | CA387787586 | BRCA2 | c.5950A>C (p.Lys1984Gln) c.5581A>C (p.Lys1861Gln) n.5950A>C | |
13 | g.32340305A>G | CA387787587 | BRCA2 | c.5950A>G (p.Lys1984Glu) c.5581A>G (p.Lys1861Glu) n.5950A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340305A>T | CA387787588 | BRCA2 | c.5950A>T (p.Lys1984Ter) c.5581A>T (p.Lys1861Ter) n.5950A>T | dbSNP |
13 | g.32340306A= | CA2082808495 | BRCA2 | c.5951A= (p.Lys1984=) c.5582A= (p.Lys1861=) n.5951A= | |
13 | g.32340306A>C | CA387787589 | BRCA2 | c.5951A>C (p.Lys1984Thr) c.5582A>C (p.Lys1861Thr) n.5951A>C | |
13 | g.32340306A>G | CA6940917 | BRCA2 | c.5951A>G (p.Lys1984Arg) c.5582A>G (p.Lys1861Arg) n.5951A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340306A>T | CA387787590 | BRCA2 | c.5951A>T (p.Lys1984Ile) c.5582A>T (p.Lys1861Ile) n.5951A>T | dbSNP |
13 | g.32340307A= | CA2082808510 | BRCA2 | c.5952A= (p.Lys1984=) c.5583A= (p.Lys1861=) n.5952A= | |
13 | g.32340307A>C | CA387787591 | BRCA2 | c.5952A>C (p.Lys1984Asn) c.5583A>C (p.Lys1861Asn) n.5952A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340307A>G | CA023407 | BRCA2 | c.5952A>G (p.Lys1984=) c.5583A>G (p.Lys1861=) n.5952A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340307A>T | CA387787592 | BRCA2 | c.5952A>T (p.Lys1984Asn) c.5583A>T (p.Lys1861Asn) n.5952A>T | dbSNP |
13 | g.32340307_32340309delinsATC | CA2082808505 | BRCA2 | c.5952_5954delinsATC (p.Lys1984=) c.5583_5585delinsATC (p.Lys1861=) n.5952_5954delinsATC | |
13 | g.32340308T>A | CA387787595 | BRCA2 | c.5953T>A (p.Ser1985Thr) c.5584T>A (p.Ser1862Thr) n.5953T>A | dbSNP |
13 | g.32340308T>C | CA387787593 | BRCA2 | c.5953T>C (p.Ser1985Pro) c.5584T>C (p.Ser1862Pro) n.5953T>C | |
13 | g.32340308T>G | CA387787594 | BRCA2 | c.5953T>G (p.Ser1985Ala) c.5584T>G (p.Ser1862Ala) n.5953T>G | dbSNP |
13 | g.32340309_32340310del | CA023409 | BRCA2 | c.5954_5955del (p.Ser1985CysfsTer17) c.5585_5586del (p.Ser1862CysfsTer17) n.5954_5955del | ClinVar dbSNP |
13 | g.32340309C>A | CA387787596 | BRCA2 | c.5954C>A (p.Ser1985Tyr) c.5585C>A (p.Ser1862Tyr) n.5954C>A | ClinVar dbSNP |
13 | g.32340309C= | CA2082808534 | BRCA2 | c.5954C= (p.Ser1985=) c.5585C= (p.Ser1862=) n.5954C= | |
13 | g.32340309C>G | CA387787597 | BRCA2 | c.5954C>G (p.Ser1985Cys) c.5585C>G (p.Ser1862Cys) n.5954C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340309C>T | CA387787598 | BRCA2 | c.5954C>T (p.Ser1985Phe) c.5585C>T (p.Ser1862Phe) n.5954C>T | dbSNP |
13 | g.32340310_32340314del | CA2825002109 | BRCA2 | c.5955_5959del (p.Val1986GlyfsTer15) c.5586_5590del (p.Val1863GlyfsTer15) n.5955_5959del | ClinVar |
13 | g.32340310T>A | CA483438935 | BRCA2 | c.5955T>A (p.Ser1985=) c.5586T>A (p.Ser1862=) n.5955T>A | dbSNP |
13 | g.32340310T>C | CA483438933 | BRCA2 | c.5955T>C (p.Ser1985=) c.5586T>C (p.Ser1862=) n.5955T>C | ClinVar dbSNP |
13 | g.32340310T>G | CA483438934 | BRCA2 | c.5955T>G (p.Ser1985=) c.5586T>G (p.Ser1862=) n.5955T>G | |
13 | g.32340311G>A | CA387787599 | BRCA2 | c.5956G>A (p.Val1986Ile) c.5587G>A (p.Val1863Ile) n.5956G>A | ClinVar dbSNP |
13 | g.32340311G>C | CA387787600 | BRCA2 | c.5956G>C (p.Val1986Leu) c.5587G>C (p.Val1863Leu) n.5956G>C | dbSNP |
13 | g.32340311G>T | CA387787601 | BRCA2 | c.5956G>T (p.Val1986Phe) c.5587G>T (p.Val1863Phe) n.5956G>T | |
13 | g.32340312T>A | CA387787602 | BRCA2 | c.5957T>A (p.Val1986Asp) c.5588T>A (p.Val1863Asp) n.5957T>A | |
13 | g.32340312T>C | CA387787603 | BRCA2 | c.5957T>C (p.Val1986Ala) c.5588T>C (p.Val1863Ala) n.5957T>C | |
13 | g.32340312T>G | CA387787604 | BRCA2 | c.5957T>G (p.Val1986Gly) c.5588T>G (p.Val1863Gly) n.5957T>G | |
13 | g.32340313C>A | CA483438936 | BRCA2 | c.5958C>A (p.Val1986=) c.5589C>A (p.Val1863=) n.5958C>A | dbSNP |
13 | g.32340313C= | CA2082808550 | BRCA2 | c.5958C= (p.Val1986=) c.5589C= (p.Val1863=) n.5958C= | |
13 | g.32340313C>G | CA483438937 | BRCA2 | c.5958C>G (p.Val1986=) c.5589C>G (p.Val1863=) n.5958C>G | ClinVar dbSNP |
13 | g.32340313C>T | CA6940918 | BRCA2 | c.5958C>T (p.Val1986=) c.5589C>T (p.Val1863=) n.5958C>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32340314C>A | CA387787605 | BRCA2 | c.5959C>A (p.Gln1987Lys) c.5590C>A (p.Gln1864Lys) n.5959C>A | dbSNP |
13 | g.32340314C= | CA2082808561 | BRCA2 | c.5959C= (p.Gln1987=) c.5590C= (p.Gln1864=) n.5959C= | |
13 | g.32340314C>G | CA387787606 | BRCA2 | c.5959C>G (p.Gln1987Glu) c.5590C>G (p.Gln1864Glu) n.5959C>G | dbSNP COSMIC COSMIC |
13 | g.32340314C>T | CA023417 | BRCA2 | c.5959C>T (p.Gln1987Ter) c.5590C>T (p.Gln1864Ter) n.5959C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340315del | CA2695217905 | BRCA2 | c.5960del (p.Gln1987ArgfsTer17) c.5591del (p.Gln1864ArgfsTer17) n.5960del | ClinVar |
13 | g.32340315A= | CA2082808576 | BRCA2 | c.5960A= (p.Gln1987=) c.5591A= (p.Gln1864=) n.5960A= | |
13 | g.32340315A>C | CA387787608 | BRCA2 | c.5960A>C (p.Gln1987Pro) c.5591A>C (p.Gln1864Pro) n.5960A>C | ClinVar |
13 | g.32340315A>G | CA387787607 | BRCA2 | c.5960A>G (p.Gln1987Arg) c.5591A>G (p.Gln1864Arg) n.5960A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340315A>T | CA387787609 | BRCA2 | c.5960A>T (p.Gln1987Leu) c.5591A>T (p.Gln1864Leu) n.5960A>T | dbSNP |
13 | g.32340315_32340316delinsAG | CA2082808574 | BRCA2 | c.5960_5961delinsAG (p.Gln1987=) c.5591_5592delinsAG (p.Gln1864=) n.5960_5961delinsAG | |
13 | g.32340316G>A | CA483438938 | BRCA2 | c.5961G>A (p.Gln1987=) c.5592G>A (p.Gln1864=) n.5961G>A | ClinVar dbSNP |
13 | g.32340316G>C | CA387787610 | BRCA2 | c.5961G>C (p.Gln1987His) c.5592G>C (p.Gln1864His) n.5961G>C | ClinVar dbSNP |
13 | g.32340316G= | CA2082808610 | BRCA2 | c.5961G= (p.Gln1987=) c.5592G= (p.Gln1864=) n.5961G= | |
13 | g.32340316G>T | CA023423 | BRCA2 | c.5961G>T (p.Gln1987His) c.5592G>T (p.Gln1864His) n.5961G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340317dup | CA658683863 | BRCA2 | c.5962dup (p.Val1988GlyfsTer15) c.5593dup (p.Val1865GlyfsTer15) n.5962dup | ClinVar dbSNP |
13 | g.32340317del | CA10577479 | BRCA2 | c.5962del (p.Val1988TyrfsTer16) c.5593del (p.Val1865TyrfsTer16) n.5962del | ClinVar dbSNP |
13 | g.32340317G>A | CA023425 | BRCA2 | c.5962G>A (p.Val1988Ile) c.5593G>A (p.Val1865Ile) n.5962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.32340317G>C | CA387787611 | BRCA2 | c.5962G>C (p.Val1988Leu) c.5593G>C (p.Val1865Leu) n.5962G>C | dbSNP |
13 | g.32340317G= | CA2082808617 | BRCA2 | c.5962G= (p.Val1988=) c.5593G= (p.Val1865=) n.5962G= | |
13 | g.32340317G>T | CA387787612 | BRCA2 | c.5962G>T (p.Val1988Leu) c.5593G>T (p.Val1865Leu) n.5962G>T | ClinVar dbSNP |
13 | g.32340317_32340319delinsGTA | CA2082808616 | BRCA2 | c.5962_5964delinsGTA (p.Val1988=) c.5593_5595delinsGTA (p.Val1865=) n.5962_5964delinsGTA | |
13 | g.32340318T>A | CA387787613 | BRCA2 | c.5963T>A (p.Val1988Glu) c.5594T>A (p.Val1865Glu) n.5963T>A | dbSNP |
13 | g.32340318T>C | CA387787614 | BRCA2 | c.5963T>C (p.Val1988Ala) c.5594T>C (p.Val1865Ala) n.5963T>C | dbSNP gnomAD v4 |
13 | g.32340318T>G | CA387787615 | BRCA2 | c.5963T>G (p.Val1988Gly) c.5594T>G (p.Val1865Gly) n.5963T>G | dbSNP |
13 | g.32340318dup | CA1139663229 | BRCA2 | c.5963dup (p.Ser1989IlefsTer14) c.5594dup (p.Ser1866IlefsTer14) n.5963dup | ClinVar dbSNP |
13 | g.32340319_32340320del | CA023427 | BRCA2 | c.5964_5965del (p.Ser1989ArgfsTer13) c.5595_5596del (p.Ser1866ArgfsTer13) n.5964_5965del | ClinVar dbSNP |
13 | g.32340319del | CA1139770766 | BRCA2 | c.5964del (p.Ser1989GlnfsTer15) c.5595del (p.Ser1866GlnfsTer15) n.5964del | |
13 | g.32340319A>C | CA483438940 | BRCA2 | c.5964A>C (p.Val1988=) c.5595A>C (p.Val1865=) n.5964A>C | |
13 | g.32340319A>G | CA483438939 | BRCA2 | c.5964A>G (p.Val1988=) c.5595A>G (p.Val1865=) n.5964A>G | ClinVar dbSNP |
13 | g.32340319A>T | CA483438941 | BRCA2 | c.5964A>T (p.Val1988=) c.5595A>T (p.Val1865=) n.5964A>T | dbSNP |
13 | g.32340320T>A | CA387787616 | BRCA2 | c.5965T>A (p.Ser1989Thr) c.5596T>A (p.Ser1866Thr) n.5965T>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340320T>C | CA387787617 | BRCA2 | c.5965T>C (p.Ser1989Pro) c.5596T>C (p.Ser1866Pro) n.5965T>C | |
13 | g.32340320T>G | CA387787618 | BRCA2 | c.5965T>G (p.Ser1989Ala) c.5596T>G (p.Ser1866Ala) n.5965T>G | dbSNP |
13 | g.32340320T= | CA2082808642 | BRCA2 | c.5965T= (p.Ser1989=) c.5596T= (p.Ser1866=) n.5965T= | |
13 | g.32340321C>A | CA10586546 | BRCA2 | c.5966C>A (p.Ser1989Ter) c.5597C>A (p.Ser1866Ter) n.5966C>A | ClinVar dbSNP |
13 | g.32340321C= | CA2082808662 | BRCA2 | c.5966C= (p.Ser1989=) c.5597C= (p.Ser1866=) n.5966C= | |
13 | g.32340321C>G | CA10589339 | BRCA2 | c.5966C>G (p.Ser1989Ter) c.5597C>G (p.Ser1866Ter) n.5966C>G | ClinVar dbSNP |
13 | g.32340321C>T | CA387787619 | BRCA2 | c.5966C>T (p.Ser1989Leu) c.5597C>T (p.Ser1866Leu) n.5966C>T | dbSNP |
13 | g.32340321dup | CA10589340 | BRCA2 | c.5966dup (p.Asp1990ArgfsTer13) c.5597dup (p.Asp1867ArgfsTer13) n.5966dup | ClinVar dbSNP |
13 | g.32340321_32340323delinsCAG | CA2082808663 | BRCA2 | c.5966_5968delinsCAG (p.Ser1989=) c.5597_5599delinsCAG (p.Ser1866=) n.5966_5968delinsCAG | |
13 | g.32340322A= | CA2082808670 | BRCA2 | c.5967A= (p.Ser1989=) c.5598A= (p.Ser1866=) n.5967A= | |
13 | g.32340322A>C | CA483438942 | BRCA2 | c.5967A>C (p.Ser1989=) c.5598A>C (p.Ser1866=) n.5967A>C | ClinVar dbSNP |
13 | g.32340322A>G | CA483438944 | BRCA2 | c.5967A>G (p.Ser1989=) c.5598A>G (p.Ser1866=) n.5967A>G | ClinVar dbSNP |
13 | g.32340322A>T | CA483438943 | BRCA2 | c.5967A>T (p.Ser1989=) c.5598A>T (p.Ser1866=) n.5967A>T | dbSNP |
13 | g.32340322dup | CA023429 | BRCA2 | c.5967dup (p.Asp1990ArgfsTer13) c.5598dup (p.Asp1867ArgfsTer13) n.5967dup | ClinVar dbSNP |
13 | g.32340323_32340324del | CA023431 | BRCA2 | c.5968_5969del (p.Asp1990CysfsTer12) c.5599_5600del (p.Asp1867CysfsTer12) n.5968_5969del | ClinVar dbSNP |
13 | g.32340323G>A | CA387787620 | BRCA2 | c.5968G>A (p.Asp1990Asn) c.5599G>A (p.Asp1867Asn) n.5968G>A | ClinVar dbSNP |
13 | g.32340323G>C | CA387787621 | BRCA2 | c.5968G>C (p.Asp1990His) c.5599G>C (p.Asp1867His) n.5968G>C | dbSNP |
13 | g.32340323G= | CA2082808675 | BRCA2 | c.5968G= (p.Asp1990=) c.5599G= (p.Asp1867=) n.5968G= | |
13 | g.32340323G>T | CA387787622 | BRCA2 | c.5968G>T (p.Asp1990Tyr) c.5599G>T (p.Asp1867Tyr) n.5968G>T | dbSNP |
13 | g.32340323_32340324delinsGA | CA2082808674 | BRCA2 | c.5968_5969delinsGA (p.Asp1990=) c.5599_5600delinsGA (p.Asp1867=) n.5968_5969delinsGA | |
13 | g.32340324del | CA10586547 | BRCA2 | c.5969del (p.Asp1990ValfsTer14) c.5600del (p.Asp1867ValfsTer14) n.5969del | ClinVar dbSNP |
13 | g.32340324A= | CA2082808686 | BRCA2 | c.5969A= (p.Asp1990=) c.5600A= (p.Asp1867=) n.5969A= | |
13 | g.32340324A>C | CA023434 | BRCA2 | c.5969A>C (p.Asp1990Ala) c.5600A>C (p.Asp1867Ala) n.5969A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340324A>G | CA023435 | BRCA2 | c.5969A>G (p.Asp1990Gly) c.5600A>G (p.Asp1867Gly) n.5969A>G | ClinVar dbSNP |
13 | g.32340324A>T | CA387787623 | BRCA2 | c.5969A>T (p.Asp1990Val) c.5600A>T (p.Asp1867Val) n.5969A>T | dbSNP |
13 | g.32340325T>A | CA387787624 | BRCA2 | c.5970T>A (p.Asp1990Glu) c.5601T>A (p.Asp1867Glu) n.5970T>A | dbSNP |
13 | g.32340325T>C | CA483438945 | BRCA2 | c.5970T>C (p.Asp1990=) c.5601T>C (p.Asp1867=) n.5970T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340325T>G | CA16619734 | BRCA2 | c.5970T>G (p.Asp1990Glu) c.5601T>G (p.Asp1867Glu) n.5970T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340325T= | CA2082808694 | BRCA2 | c.5970T= (p.Asp1990=) c.5601T= (p.Asp1867=) n.5970T= | |
13 | g.32340326G>A | CA387787627 | BRCA2 | c.5971G>A (p.Ala1991Thr) c.5602G>A (p.Ala1868Thr) n.5971G>A | ClinVar dbSNP |
13 | g.32340326G>C | CA387787626 | BRCA2 | c.5971G>C (p.Ala1991Pro) c.5602G>C (p.Ala1868Pro) n.5971G>C | ClinVar dbSNP |
13 | g.32340326G= | CA2082808703 | BRCA2 | c.5971G= (p.Ala1991=) c.5602G= (p.Ala1868=) n.5971G= | |
13 | g.32340326G>T | CA387787625 | BRCA2 | c.5971G>T (p.Ala1991Ser) c.5602G>T (p.Ala1868Ser) n.5971G>T | ClinVar dbSNP |
13 | g.32340327C>A | CA387787628 | BRCA2 | c.5972C>A (p.Ala1991Asp) c.5603C>A (p.Ala1868Asp) n.5972C>A | ClinVar dbSNP |
13 | g.32340327C= | CA2082808714 | BRCA2 | c.5972C= (p.Ala1991=) c.5603C= (p.Ala1868=) n.5972C= | |
13 | g.32340327C>G | CA387787629 | BRCA2 | c.5972C>G (p.Ala1991Gly) c.5603C>G (p.Ala1868Gly) n.5972C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340327C>T | CA023438 | BRCA2 | c.5972C>T (p.Ala1991Val) c.5603C>T (p.Ala1868Val) n.5972C>T | ClinVar dbSNP |
13 | g.32340327_32340336del | CA2499222218 | BRCA2 | c.5972_5981del (p.Ala1991GlufsTer10) c.5603_5612del (p.Ala1868GlufsTer10) n.5972_5981del | |
13 | g.32340328T>A | CA483438947 | BRCA2 | c.5973T>A (p.Ala1991=) c.5604T>A (p.Ala1868=) n.5973T>A | ClinVar dbSNP |
13 | g.32340328T>C | CA483438946 | BRCA2 | c.5973T>C (p.Ala1991=) c.5604T>C (p.Ala1868=) n.5973T>C | dbSNP |
13 | g.32340328T>G | CA10579672 | BRCA2 | c.5973T>G (p.Ala1991=) c.5604T>G (p.Ala1868=) n.5973T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340328T= | CA2082808736 | BRCA2 | c.5973T= (p.Ala1991=) c.5604T= (p.Ala1868=) n.5973T= | |
13 | g.32340329T>A | CA387787630 | BRCA2 | c.5974T>A (p.Ser1992Thr) c.5605T>A (p.Ser1869Thr) n.5974T>A | dbSNP |
13 | g.32340329T>C | CA387787631 | BRCA2 | c.5974T>C (p.Ser1992Pro) c.5605T>C (p.Ser1869Pro) n.5974T>C | dbSNP |
13 | g.32340329T>G | CA387787632 | BRCA2 | c.5974T>G (p.Ser1992Ala) c.5605T>G (p.Ser1869Ala) n.5974T>G | |
13 | g.32340329T= | CA2082808744 | BRCA2 | c.5974T= (p.Ser1992=) c.5605T= (p.Ser1869=) n.5974T= | |
13 | g.32340330C>A | CA387787633 | BRCA2 | c.5975C>A (p.Ser1992Ter) c.5606C>A (p.Ser1869Ter) n.5975C>A | dbSNP |
13 | g.32340330C= | CA2082808753 | BRCA2 | c.5975C= (p.Ser1992=) c.5606C= (p.Ser1869=) n.5975C= | |
13 | g.32340330C>G | CA10589341 | BRCA2 | c.5975C>G (p.Ser1992Ter) c.5606C>G (p.Ser1869Ter) n.5975C>G | ClinVar dbSNP |
13 | g.32340330C>T | CA023440 | BRCA2 | c.5975C>T (p.Ser1992Leu) c.5606C>T (p.Ser1869Leu) n.5975C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340330dup | CA919242612 | BRCA2 | c.5975dup (p.Leu1993IlefsTer10) c.5606dup (p.Leu1870IlefsTer10) n.5975dup | dbSNP |
13 | g.32340330_32340331dup | CA2622599267 | BRCA2 | c.5975_5976dup (p.Leu1993HisfsTer12) c.5606_5607dup (p.Leu1870HisfsTer12) n.5975_5976dup | gnomAD v4 |
13 | g.32340331A= | CA2082808768 | BRCA2 | c.5976A= (p.Ser1992=) c.5607A= (p.Ser1869=) n.5976A= | |
13 | g.32340331A>C | CA483438948 | BRCA2 | c.5976A>C (p.Ser1992=) c.5607A>C (p.Ser1869=) n.5976A>C | gnomAD v4 |
13 | g.32340331A>G | CA6940919 | BRCA2 | c.5976A>G (p.Ser1992=) c.5607A>G (p.Ser1869=) n.5976A>G | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32340331A>T | CA483438949 | BRCA2 | c.5976A>T (p.Ser1992=) c.5607A>T (p.Ser1869=) n.5976A>T | |
13 | g.32340332T>A | CA387787634 | BRCA2 | c.5977T>A (p.Leu1993Ile) c.5608T>A (p.Leu1870Ile) n.5977T>A | dbSNP |
13 | g.32340332T>C | CA483438950 | BRCA2 | c.5977T>C (p.Leu1993=) c.5608T>C (p.Leu1870=) n.5977T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340332T>G | CA387787635 | BRCA2 | c.5977T>G (p.Leu1993Val) c.5608T>G (p.Leu1870Val) n.5977T>G | |
13 | g.32340332T= | CA2082808776 | BRCA2 | c.5977T= (p.Leu1993=) c.5608T= (p.Leu1870=) n.5977T= | |
13 | g.32340333T>A | CA387787636 | BRCA2 | c.5978T>A (p.Leu1993Ter) c.5609T>A (p.Leu1870Ter) n.5978T>A | dbSNP |
13 | g.32340333T>C | CA387787637 | BRCA2 | c.5978T>C (p.Leu1993Ser) c.5609T>C (p.Leu1870Ser) n.5978T>C | dbSNP |
13 | g.32340333T>G | CA6940920 | BRCA2 | c.5978T>G (p.Leu1993Ter) c.5609T>G (p.Leu1870Ter) n.5978T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340333T= | CA2082808781 | BRCA2 | c.5978T= (p.Leu1993=) c.5609T= (p.Leu1870=) n.5978T= | |
13 | g.32340334A= | CA2082808792 | BRCA2 | c.5979A= (p.Leu1993=) c.5610A= (p.Leu1870=) n.5979A= | |
13 | g.32340334A>C | CA387787638 | BRCA2 | c.5979A>C (p.Leu1993Phe) c.5610A>C (p.Leu1870Phe) n.5979A>C | dbSNP |
13 | g.32340334A>G | CA6940921 | BRCA2 | c.5979A>G (p.Leu1993=) c.5610A>G (p.Leu1870=) n.5979A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340334A>T | CA387787639 | BRCA2 | c.5979A>T (p.Leu1993Phe) c.5610A>T (p.Leu1870Phe) n.5979A>T | dbSNP |
13 | g.32340334dup | CA2573149396 | BRCA2 | c.5979dup (p.Gln1994ThrfsTer9) c.5610dup (p.Gln1871ThrfsTer9) n.5979dup | ClinVar dbSNP |
13 | g.32340335C>A | CA387787640 | BRCA2 | c.5980C>A (p.Gln1994Lys) c.5611C>A (p.Gln1871Lys) n.5980C>A | COSMIC |
13 | g.32340335C= | CA2082808804 | BRCA2 | c.5980C= (p.Gln1994=) c.5611C= (p.Gln1871=) n.5980C= | |
13 | g.32340335C>G | CA387787641 | BRCA2 | c.5980C>G (p.Gln1994Glu) c.5611C>G (p.Gln1871Glu) n.5980C>G | |
13 | g.32340335C>T | CA023442 | BRCA2 | c.5980C>T (p.Gln1994Ter) c.5611C>T (p.Gln1871Ter) n.5980C>T | ClinVar dbSNP |
13 | g.32340335_32340336delinsCA | CA2082808808 | BRCA2 | c.5980_5981delinsCA (p.Gln1994=) c.5611_5612delinsCA (p.Gln1871=) n.5980_5981delinsCA | |
13 | g.32340336A= | CA2082808825 | BRCA2 | c.5981A= (p.Gln1994=) c.5612A= (p.Gln1871=) n.5981A= | |
13 | g.32340336A>C | CA387787642 | BRCA2 | c.5981A>C (p.Gln1994Pro) c.5612A>C (p.Gln1871Pro) n.5981A>C | |
13 | g.32340336A>G | CA023444 | BRCA2 | c.5981A>G (p.Gln1994Arg) c.5612A>G (p.Gln1871Arg) n.5981A>G | ClinVar dbSNP |
13 | g.32340336A>T | CA387787643 | BRCA2 | c.5981A>T (p.Gln1994Leu) c.5612A>T (p.Gln1871Leu) n.5981A>T | dbSNP |
13 | g.32340339dup | CA023449 | BRCA2 | c.5984dup (p.Asn1995LysfsTer8) c.5615dup (p.Asn1872LysfsTer8) n.5984dup | ClinVar dbSNP |
13 | g.32340339del | CA915948502 | BRCA2 | c.5984del (p.Asn1995ThrfsTer9) c.5615del (p.Asn1872ThrfsTer9) n.5984del | ClinVar dbSNP |
13 | g.32340337A= | CA2082808836 | BRCA2 | c.5982A= (p.Gln1994=) c.5613A= (p.Gln1871=) n.5982A= | |
13 | g.32340337A>C | CA387787644 | BRCA2 | c.5982A>C (p.Gln1994His) c.5613A>C (p.Gln1871His) n.5982A>C | |
13 | g.32340337A>G | CA483438951 | BRCA2 | c.5982A>G (p.Gln1994=) c.5613A>G (p.Gln1871=) n.5982A>G | |
13 | g.32340337A>T | CA023447 | BRCA2 | c.5982A>T (p.Gln1994His) c.5613A>T (p.Gln1871His) n.5982A>T | ClinVar dbSNP |
13 | g.32340338A>C | CA387787646 | BRCA2 | c.5983A>C (p.Asn1995His) c.5614A>C (p.Asn1872His) n.5983A>C | dbSNP |
13 | g.32340338A>G | CA387787647 | BRCA2 | c.5983A>G (p.Asn1995Asp) c.5614A>G (p.Asn1872Asp) n.5983A>G | |
13 | g.32340338A>T | CA387787645 | BRCA2 | c.5983A>T (p.Asn1995Tyr) c.5614A>T (p.Asn1872Tyr) n.5983A>T | dbSNP |
13 | g.32340339A= | CA2082808842 | BRCA2 | c.5984A= (p.Asn1995=) c.5615A= (p.Asn1872=) n.5984A= | |
13 | g.32340339A>C | CA387787649 | BRCA2 | c.5984A>C (p.Asn1995Thr) c.5615A>C (p.Asn1872Thr) n.5984A>C | |
13 | g.32340339A>G | CA023451 | BRCA2 | c.5984A>G (p.Asn1995Ser) c.5615A>G (p.Asn1872Ser) n.5984A>G | ClinVar dbSNP |
13 | g.32340339A>T | CA387787648 | BRCA2 | c.5984A>T (p.Asn1995Ile) c.5615A>T (p.Asn1872Ile) n.5984A>T | dbSNP |
13 | g.32340340del | CA2499222219 | BRCA2 | c.5985del (p.Asn1995LysfsTer9) c.5616del (p.Asn1872LysfsTer9) n.5985del | ClinVar dbSNP |
13 | g.32340340C>A | CA387787650 | BRCA2 | c.5985C>A (p.Asn1995Lys) c.5616C>A (p.Asn1872Lys) n.5985C>A | ClinVar dbSNP |
13 | g.32340340C= | CA2082808853 | BRCA2 | c.5985C= (p.Asn1995=) c.5616C= (p.Asn1872=) n.5985C= | |
13 | g.32340340C>G | CA387787651 | BRCA2 | c.5985C>G (p.Asn1995Lys) c.5616C>G (p.Asn1872Lys) n.5985C>G | dbSNP |
13 | g.32340340C>T | CA023453 | BRCA2 | c.5985C>T (p.Asn1995=) c.5616C>T (p.Asn1872=) n.5985C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340340_32340341insA | CA10589342 | BRCA2 | c.5985_5986insA (p.Ala1996SerfsTer7) c.5616_5617insA (p.Ala1873SerfsTer7) n.5985_5986insA | ClinVar dbSNP |
13 | g.32340341G>A | CA023455 | BRCA2 | c.5986G>A (p.Ala1996Thr) c.5617G>A (p.Ala1873Thr) n.5986G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340341G>C | CA387787652 | BRCA2 | c.5986G>C (p.Ala1996Pro) c.5617G>C (p.Ala1873Pro) n.5986G>C | dbSNP |
13 | g.32340341G= | CA2082808869 | BRCA2 | c.5986G= (p.Ala1996=) c.5617G= (p.Ala1873=) n.5986G= | |
13 | g.32340341G>T | CA023458 | BRCA2 | c.5986G>T (p.Ala1996Ser) c.5617G>T (p.Ala1873Ser) n.5986G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340341_32340342delinsAT | CA915948503 | BRCA2 | c.5986_5987delinsAT (p.Ala1996Ile) c.5617_5618delinsAT (p.Ala1873Ile) n.5986_5987delinsAT | ClinVar dbSNP |
13 | g.32340341_32340342delinsGC | CA2082808880 | BRCA2 | c.5986_5987delinsGC (p.Ala1996=) c.5617_5618delinsGC (p.Ala1873=) n.5986_5987delinsGC | |
13 | g.32340341_32340346delinsGCAAGA | CA2082808878 | BRCA2 | c.5986_5991delinsGCAAGA (p.Ala1996=) c.5617_5622delinsGCAAGA (p.Ala1873=) n.5986_5991delinsGCAAGA | |
13 | g.32340342C>A | CA387787653 | BRCA2 | c.5987C>A (p.Ala1996Glu) c.5618C>A (p.Ala1873Glu) n.5987C>A | ClinVar dbSNP |
13 | g.32340342C= | CA2082808897 | BRCA2 | c.5987C= (p.Ala1996=) c.5618C= (p.Ala1873=) n.5987C= | |
13 | g.32340342C>G | CA023462 | BRCA2 | c.5987C>G (p.Ala1996Gly) c.5618C>G (p.Ala1873Gly) n.5987C>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340342C>T | CA023465 | BRCA2 | c.5987C>T (p.Ala1996Val) c.5618C>T (p.Ala1873Val) n.5987C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340346_32340350del | CA658823675 | BRCA2 | c.5991_5995del (p.Arg1997SerfsTer4) c.5622_5626del (p.Arg1874SerfsTer4) n.5991_5995del | ClinVar dbSNP |
13 | g.32340343A= | CA2082808916 | BRCA2 | c.5988A= (p.Ala1996=) c.5619A= (p.Ala1873=) n.5988A= | |
13 | g.32340343A>C | CA483438952 | BRCA2 | c.5988A>C (p.Ala1996=) c.5619A>C (p.Ala1873=) n.5988A>C | |
13 | g.32340343A>G | CA6940922 | BRCA2 | c.5988A>G (p.Ala1996=) c.5619A>G (p.Ala1873=) n.5988A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340343A>T | CA483438953 | BRCA2 | c.5988A>T (p.Ala1996=) c.5619A>T (p.Ala1873=) n.5988A>T | dbSNP |
13 | g.32340344A= | CA2082808940 | BRCA2 | c.5989A= (p.Arg1997=) c.5620A= (p.Arg1874=) n.5989A= | |
13 | g.32340344A>C | CA483438954 | BRCA2 | c.5989A>C (p.Arg1997=) c.5620A>C (p.Arg1874=) n.5989A>C | ClinVar |
13 | g.32340344A>G | CA387787655 | BRCA2 | c.5989A>G (p.Arg1997Gly) c.5620A>G (p.Arg1874Gly) n.5989A>G | ClinVar dbSNP |
13 | g.32340344A>T | CA387787654 | BRCA2 | c.5989A>T (p.Arg1997Ter) c.5620A>T (p.Arg1874Ter) n.5989A>T | dbSNP |
13 | g.32340345G>A | CA16619735 | BRCA2 | c.5990G>A (p.Arg1997Lys) c.5621G>A (p.Arg1874Lys) n.5990G>A | ClinVar dbSNP |
13 | g.32340345G>C | CA387787656 | BRCA2 | c.5990G>C (p.Arg1997Thr) c.5621G>C (p.Arg1874Thr) n.5990G>C | dbSNP |
13 | g.32340345G= | CA2082808945 | BRCA2 | c.5990G= (p.Arg1997=) c.5621G= (p.Arg1874=) n.5990G= | |
13 | g.32340345G>T | CA387787657 | BRCA2 | c.5990G>T (p.Arg1997Ile) c.5621G>T (p.Arg1874Ile) n.5990G>T | |
13 | g.32340346A>C | CA387787658 | BRCA2 | c.5991A>C (p.Arg1997Ser) c.5622A>C (p.Arg1874Ser) n.5991A>C | |
13 | g.32340346A>G | CA483438955 | BRCA2 | c.5991A>G (p.Arg1997=) c.5622A>G (p.Arg1874=) n.5991A>G | ClinVar |
13 | g.32340346A>T | CA387787659 | BRCA2 | c.5991A>T (p.Arg1997Ser) c.5622A>T (p.Arg1874Ser) n.5991A>T | dbSNP |
13 | g.32340347_32340349del | CA2727919859 | BRCA2 | c.5992_5994del (p.Gln1998del) c.5623_5625del (p.Gln1875del) n.5992_5994del | dbSNP |
13 | g.32340347C>A | CA387787660 | BRCA2 | c.5992C>A (p.Gln1998Lys) c.5623C>A (p.Gln1875Lys) n.5992C>A | dbSNP |
13 | g.32340347C= | CA2082808961 | BRCA2 | c.5992C= (p.Gln1998=) c.5623C= (p.Gln1875=) n.5992C= | |
13 | g.32340347C>G | CA10579673 | BRCA2 | c.5992C>G (p.Gln1998Glu) c.5623C>G (p.Gln1875Glu) n.5992C>G | ClinVar dbSNP |
13 | g.32340347C>T | CA023471 | BRCA2 | c.5992C>T (p.Gln1998Ter) c.5623C>T (p.Gln1875Ter) n.5992C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340347_32340348delinsCA | CA2082808956 | BRCA2 | c.5992_5993delinsCA (p.Gln1998=) c.5623_5624delinsCA (p.Gln1875=) n.5992_5993delinsCA | |
13 | g.32340347_32340349delinsCAA | CA2082808957 | BRCA2 | c.5992_5994delinsCAA (p.Gln1998=) c.5623_5625delinsCAA (p.Gln1875=) n.5992_5994delinsCAA | |
13 | g.32340348A= | CA2082808985 | BRCA2 | c.5993A= (p.Gln1998=) c.5624A= (p.Gln1875=) n.5993A= | |
13 | g.32340348A>C | CA023474 | BRCA2 | c.5993A>C (p.Gln1998Pro) c.5624A>C (p.Gln1875Pro) n.5993A>C | ClinVar dbSNP |
13 | g.32340348A>G | CA023479 | BRCA2 | c.5993A>G (p.Gln1998Arg) c.5624A>G (p.Gln1875Arg) n.5993A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340348A>T | CA387787661 | BRCA2 | c.5993A>T (p.Gln1998Leu) c.5624A>T (p.Gln1875Leu) n.5993A>T | dbSNP |
13 | g.32340348_32340349del | CA10586548 | BRCA2 | c.5993_5994del (p.Gln1998ArgfsTer4) c.5624_5625del (p.Gln1875ArgfsTer4) n.5993_5994del | ClinVar dbSNP |
13 | g.32340349del | CA10589343 | BRCA2 | c.5994del (p.Val1999CysfsTer5) c.5625del (p.Val1876CysfsTer5) n.5994del | ClinVar dbSNP |
13 | g.32340349A= | CA2082809002 | BRCA2 | c.5994A= (p.Gln1998=) c.5625A= (p.Gln1875=) n.5994A= | |
13 | g.32340349A>C | CA387787663 | BRCA2 | c.5994A>C (p.Gln1998His) c.5625A>C (p.Gln1875His) n.5994A>C | ClinVar dbSNP |
13 | g.32340349A>G | CA6940923 | BRCA2 | c.5994A>G (p.Gln1998=) c.5625A>G (p.Gln1875=) n.5994A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340349A>T | CA387787662 | BRCA2 | c.5994A>T (p.Gln1998His) c.5625A>T (p.Gln1875His) n.5994A>T | dbSNP |
13 | g.32340350del | CA2697551803 | BRCA2 | c.5995del (p.Val1999CysfsTer5) c.5626del (p.Val1876CysfsTer5) n.5995del | ClinVar |
13 | g.32340350G>A | CA387787664 | BRCA2 | c.5995G>A (p.Val1999Met) c.5626G>A (p.Val1876Met) n.5995G>A | dbSNP gnomAD v4 |
13 | g.32340350G>C | CA387787665 | BRCA2 | c.5995G>C (p.Val1999Leu) c.5626G>C (p.Val1876Leu) n.5995G>C | dbSNP |
13 | g.32340350G= | CA2082809012 | BRCA2 | c.5995G= (p.Val1999=) c.5626G= (p.Val1876=) n.5995G= | |
13 | g.32340350G>T | CA387787666 | BRCA2 | c.5995G>T (p.Val1999Leu) c.5626G>T (p.Val1876Leu) n.5995G>T | dbSNP |
13 | g.32340351T>A | CA387787667 | BRCA2 | c.5996T>A (p.Val1999Glu) c.5627T>A (p.Val1876Glu) n.5996T>A | ClinVar dbSNP |
13 | g.32340351T>C | CA387787668 | BRCA2 | c.5996T>C (p.Val1999Ala) c.5627T>C (p.Val1876Ala) n.5996T>C | gnomAD v4 |
13 | g.32340351T>G | CA387787669 | BRCA2 | c.5996T>G (p.Val1999Gly) c.5627T>G (p.Val1876Gly) n.5996T>G | dbSNP |
13 | g.32340351T= | CA2082809018 | BRCA2 | c.5996T= (p.Val1999=) c.5627T= (p.Val1876=) n.5996T= | |
13 | g.32340351dup | CA645372974 | BRCA2 | c.5996dup (p.Phe2000ValfsTer3) c.5627dup (p.Phe1877ValfsTer3) n.5996dup | ClinVar dbSNP |
13 | g.32340352G>A | CA483438956 | BRCA2 | c.5997G>A (p.Val1999=) c.5628G>A (p.Val1876=) n.5997G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340352G>C | CA483438957 | BRCA2 | c.5997G>C (p.Val1999=) c.5628G>C (p.Val1876=) n.5997G>C | |
13 | g.32340352G= | CA2082809030 | BRCA2 | c.5997G= (p.Val1999=) c.5628G= (p.Val1876=) n.5997G= | |
13 | g.32340352G>T | CA483438958 | BRCA2 | c.5997G>T (p.Val1999=) c.5628G>T (p.Val1876=) n.5997G>T | |
13 | g.32340352_32340353delinsGT | CA2082809028 | BRCA2 | c.5997_5998delinsGT (p.Val1999=) c.5628_5629delinsGT (p.Val1876=) n.5997_5998delinsGT | |
13 | g.32340353T>A | CA387787671 | BRCA2 | c.5998T>A (p.Phe2000Ile) c.5629T>A (p.Phe1877Ile) n.5998T>A | dbSNP |
13 | g.32340353T>C | CA387787670 | BRCA2 | c.5998T>C (p.Phe2000Leu) c.5629T>C (p.Phe1877Leu) n.5998T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340353T>G | CA023484 | BRCA2 | c.5998T>G (p.Phe2000Val) c.5629T>G (p.Phe1877Val) n.5998T>G | ClinVar dbSNP |
13 | g.32340353T= | CA2082809051 | BRCA2 | c.5998T= (p.Phe2000=) c.5629T= (p.Phe1877=) n.5998T= | |
13 | g.32340353delinsCG | CA891844240 | BRCA2 | c.5998delinsCG (p.Phe2000ArgfsTer3) c.5629delinsCG (p.Phe1877ArgfsTer3) n.5998delinsCG | ClinVar dbSNP |
13 | g.32340356del | CA023500 | BRCA2 | c.6001del (p.Ser2001LeufsTer3) c.5632del (p.Ser1878LeufsTer3) n.6001del | ClinVar dbSNP |
13 | g.32340355_32340356del | CA1139771862 | BRCA2 | c.6000_6001del (p.Ser2001Ter) c.5631_5632del (p.Ser1878Ter) n.6000_6001del | |
13 | g.32340354T>A | CA387787672 | BRCA2 | c.5999T>A (p.Phe2000Tyr) c.5630T>A (p.Phe1877Tyr) n.5999T>A | dbSNP |
13 | g.32340354T>C | CA387787673 | BRCA2 | c.5999T>C (p.Phe2000Ser) c.5630T>C (p.Phe1877Ser) n.5999T>C | |
13 | g.32340354T>G | CA387787674 | BRCA2 | c.5999T>G (p.Phe2000Cys) c.5630T>G (p.Phe1877Cys) n.5999T>G | dbSNP |
13 | g.32340355T>A | CA387787675 | BRCA2 | c.6000T>A (p.Phe2000Leu) c.5631T>A (p.Phe1877Leu) n.6000T>A | dbSNP |
13 | g.32340355T>C | CA483438959 | BRCA2 | c.6000T>C (p.Phe2000=) c.5631T>C (p.Phe1877=) n.6000T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340355T>G | CA387787676 | BRCA2 | c.6000T>G (p.Phe2000Leu) c.5631T>G (p.Phe1877Leu) n.6000T>G | |
13 | g.32340355T= | CA2082809063 | BRCA2 | c.6000T= (p.Phe2000=) c.5631T= (p.Phe1877=) n.6000T= | |
13 | g.32340356T>A | CA387787677 | BRCA2 | c.6001T>A (p.Ser2001Thr) c.5632T>A (p.Ser1878Thr) n.6001T>A | |
13 | g.32340356T>C | CA387787678 | BRCA2 | c.6001T>C (p.Ser2001Pro) c.5632T>C (p.Ser1878Pro) n.6001T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340356T>G | CA247512238 | BRCA2 | c.6001T>G (p.Ser2001Ala) c.5632T>G (p.Ser1878Ala) n.6001T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340356T= | CA2082809070 | BRCA2 | c.6001T= (p.Ser2001=) c.5632T= (p.Ser1878=) n.6001T= | |
13 | g.32340357C>A | CA387787679 | BRCA2 | c.6002C>A (p.Ser2001Tyr) c.5633C>A (p.Ser1878Tyr) n.6002C>A | |
13 | g.32340357C>G | CA387787680 | BRCA2 | c.6002C>G (p.Ser2001Cys) c.5633C>G (p.Ser1878Cys) n.6002C>G | dbSNP |
13 | g.32340357C>T | CA387787681 | BRCA2 | c.6002C>T (p.Ser2001Phe) c.5633C>T (p.Ser1878Phe) n.6002C>T | dbSNP |
13 | g.32340358T>A | CA483438962 | BRCA2 | c.6003T>A (p.Ser2001=) c.5634T>A (p.Ser1878=) n.6003T>A | dbSNP |
13 | g.32340358T>C | CA483438961 | BRCA2 | c.6003T>C (p.Ser2001=) c.5634T>C (p.Ser1878=) n.6003T>C | |
13 | g.32340358T>G | CA483438960 | BRCA2 | c.6003T>G (p.Ser2001=) c.5634T>G (p.Ser1878=) n.6003T>G |