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.32339755C>A | CA387785315 | BRCA2 | c.5400C>A (p.Tyr1800Ter) c.5031C>A (p.Tyr1677Ter) n.5400C>A | ClinVar dbSNP |
13 | g.32339755C= | CA2082822873 | BRCA2 | c.5400C= (p.Tyr1800=) c.5031C= (p.Tyr1677=) n.5400C= | |
13 | g.32339755C>G | CA16619724 | BRCA2 | c.5400C>G (p.Tyr1800Ter) c.5031C>G (p.Tyr1677Ter) n.5400C>G | ClinVar dbSNP |
13 | g.32339755C>T | CA6940868 | BRCA2 | c.5400C>T (p.Tyr1800=) c.5031C>T (p.Tyr1677=) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339757dup | CA2573051260 | BRCA2 | c.5402dup (p.Gln1802ThrfsTer5) c.5033dup (p.Gln1679ThrfsTer5) n.5402dup | ClinVar dbSNP |
13 | g.32339756C>A | CA387785319 | BRCA2 | c.5401C>A (p.Pro1801Thr) c.5032C>A (p.Pro1678Thr) n.5401C>A | |
13 | g.32339756C= | CA2082822877 | BRCA2 | c.5401C= (p.Pro1801=) c.5032C= (p.Pro1678=) n.5401C= | |
13 | g.32339756C>G | CA387785322 | BRCA2 | c.5401C>G (p.Pro1801Ala) c.5032C>G (p.Pro1678Ala) n.5401C>G | dbSNP |
13 | g.32339756C>T | CA387785325 | BRCA2 | c.5401C>T (p.Pro1801Ser) c.5032C>T (p.Pro1678Ser) n.5401C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339756_32339758delinsCCA | CA2082822881 | BRCA2 | c.5401_5403delinsCCA (p.Pro1801=) c.5032_5034delinsCCA (p.Pro1678=) n.5401_5403delinsCCA | |
13 | g.32339757C>A | CA387785328 | BRCA2 | c.5402C>A (p.Pro1801Gln) c.5033C>A (p.Pro1678Gln) n.5402C>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339757C= | CA2082822894 | BRCA2 | c.5402C= (p.Pro1801=) c.5033C= (p.Pro1678=) n.5402C= | |
13 | g.32339757C>G | CA387785329 | BRCA2 | c.5402C>G (p.Pro1801Arg) c.5033C>G (p.Pro1678Arg) n.5402C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339757C>T | CA16613981 | BRCA2 | c.5402C>T (p.Pro1801Leu) c.5033C>T (p.Pro1678Leu) n.5402C>T | ClinVar dbSNP |
13 | g.32339759_32339760del | CA915948492 | BRCA2 | c.5404_5405del (p.Gln1802AsnfsTer4) c.5035_5036del (p.Gln1679AsnfsTer4) n.5404_5405del | ClinVar dbSNP |
13 | g.32339758A= | CA2082822902 | BRCA2 | c.5403A= (p.Pro1801=) c.5034A= (p.Pro1678=) n.5403A= | |
13 | g.32339758A>C | CA483438705 | BRCA2 | c.5403A>C (p.Pro1801=) c.5034A>C (p.Pro1678=) n.5403A>C | |
13 | g.32339758A>G | CA16614173 | BRCA2 | c.5403A>G (p.Pro1801=) c.5034A>G (p.Pro1678=) n.5403A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339758A>T | CA483438706 | BRCA2 | c.5403A>T (p.Pro1801=) c.5034A>T (p.Pro1678=) n.5403A>T | dbSNP |
13 | g.32339759C>A | CA387785336 | BRCA2 | c.5404C>A (p.Gln1802Lys) c.5035C>A (p.Gln1679Lys) n.5404C>A | |
13 | g.32339759C= | CA2082822912 | BRCA2 | c.5404C= (p.Gln1802=) c.5035C= (p.Gln1679=) n.5404C= | |
13 | g.32339759C>G | CA387785333 | BRCA2 | c.5404C>G (p.Gln1802Glu) c.5035C>G (p.Gln1679Glu) n.5404C>G | |
13 | g.32339759C>T | CA022246 | BRCA2 | c.5404C>T (p.Gln1802Ter) c.5035C>T (p.Gln1679Ter) n.5404C>T | ClinVar dbSNP |
13 | g.32339760A= | CA2082822934 | BRCA2 | c.5405A= (p.Gln1802=) c.5036A= (p.Gln1679=) n.5405A= | |
13 | g.32339760A>C | CA387785338 | BRCA2 | c.5405A>C (p.Gln1802Pro) c.5036A>C (p.Gln1679Pro) n.5405A>C | |
13 | g.32339760A>G | CA022254 | BRCA2 | c.5405A>G (p.Gln1802Arg) c.5036A>G (p.Gln1679Arg) n.5405A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339760A>T | CA387785342 | BRCA2 | c.5405A>T (p.Gln1802Leu) c.5036A>T (p.Gln1679Leu) n.5405A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339761A= | CA2082822957 | BRCA2 | c.5406A= (p.Gln1802=) c.5037A= (p.Gln1679=) n.5406A= | |
13 | g.32339761A>C | CA022262 | BRCA2 | c.5406A>C (p.Gln1802His) c.5037A>C (p.Gln1679His) n.5406A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339761A>G | CA483438708 | BRCA2 | c.5406A>G (p.Gln1802=) c.5037A>G (p.Gln1679=) n.5406A>G | dbSNP |
13 | g.32339761A>T | CA387785346 | BRCA2 | c.5406A>T (p.Gln1802His) c.5037A>T (p.Gln1679His) n.5406A>T | ClinVar dbSNP |
13 | g.32339762A= | CA2082822970 | BRCA2 | c.5407A= (p.Thr1803=) c.5038A= (p.Thr1680=) n.5407A= | |
13 | g.32339762A>C | CA387785349 | BRCA2 | c.5407A>C (p.Thr1803Pro) c.5038A>C (p.Thr1680Pro) n.5407A>C | |
13 | g.32339762A>G | CA6940869 | BRCA2 | c.5407A>G (p.Thr1803Ala) c.5038A>G (p.Thr1680Ala) n.5407A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339762A>T | CA387785352 | BRCA2 | c.5407A>T (p.Thr1803Ser) c.5038A>T (p.Thr1680Ser) n.5407A>T | dbSNP |
13 | g.32339763C>A | CA387785356 | BRCA2 | c.5408C>A (p.Thr1803Asn) c.5039C>A (p.Thr1680Asn) n.5408C>A | dbSNP gnomAD v4 |
13 | g.32339763C>G | CA387785357 | BRCA2 | c.5408C>G (p.Thr1803Ser) c.5039C>G (p.Thr1680Ser) n.5408C>G | |
13 | g.32339763C>T | CA387785360 | BRCA2 | c.5408C>T (p.Thr1803Ile) c.5039C>T (p.Thr1680Ile) n.5408C>T | dbSNP |
13 | g.32339763_32339765delinsCTG | CA2082822980 | BRCA2 | c.5408_5410delinsCTG (p.Thr1803=) c.5039_5041delinsCTG (p.Thr1680=) n.5408_5410delinsCTG | |
13 | g.32339764T>A | CA483438712 | BRCA2 | c.5409T>A (p.Thr1803=) c.5040T>A (p.Thr1680=) n.5409T>A | dbSNP |
13 | g.32339764T>C | CA483438713 | BRCA2 | c.5409T>C (p.Thr1803=) c.5040T>C (p.Thr1680=) n.5409T>C | dbSNP |
13 | g.32339764T>G | CA483438714 | BRCA2 | c.5409T>G (p.Thr1803=) c.5040T>G (p.Thr1680=) n.5409T>G | |
13 | g.32339765_32339766del | CA022266 | BRCA2 | c.5410_5411del (p.Val1804LysfsTer2) c.5041_5042del (p.Val1681LysfsTer2) n.5410_5411del | ClinVar dbSNP gnomAD v4 |
13 | g.32339764_32339767del | CA2499222196 | BRCA2 | c.5409_5412del (p.Val1804MetfsTer10) c.5040_5043del (p.Val1681MetfsTer10) n.5409_5412del | ClinVar dbSNP |
13 | g.32339765G>A | CA387785364 | BRCA2 | c.5410G>A (p.Val1804Ile) c.5041G>A (p.Val1681Ile) n.5410G>A | dbSNP gnomAD v4 |
13 | g.32339765G>C | CA387785366 | BRCA2 | c.5410G>C (p.Val1804Leu) c.5041G>C (p.Val1681Leu) n.5410G>C | dbSNP |
13 | g.32339765G>T | CA387785368 | BRCA2 | c.5410G>T (p.Val1804Leu) c.5041G>T (p.Val1681Leu) n.5410G>T | |
13 | g.32339766T>A | CA387785369 | BRCA2 | c.5411T>A (p.Val1804Glu) c.5042T>A (p.Val1681Glu) n.5411T>A | |
13 | g.32339766T>C | CA022272 | BRCA2 | c.5411T>C (p.Val1804Ala) c.5042T>C (p.Val1681Ala) n.5411T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |