Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339402_32339418delinsCAGACTTCATTACTTGA | CA2082818393 | BRCA2 | c.5047_5063delinsCAGACTTCATTACTTGA (p.Gln1683=) c.4678_4694delinsCAGACTTCATTACTTGA (p.Gln1560=) n.5047_5063delinsCAGACTTCATTACTTGA | |
13 | g.32339405_32339420del | CA10589284 | BRCA2 | c.5050_5065del (p.Thr1684GlnfsTer17) c.4681_4696del (p.Thr1561GlnfsTer17) n.5050_5065del | ClinVar dbSNP gnomAD v4 |
13 | g.32339416_32339417insCATTACTTCATTACTT | CA2695199700 | BRCA2 | c.5061_5062insCATTACTTCATTACTT (p.Glu1688HisfsTer6) c.4692_4693insCATTACTTCATTACTT (p.Glu1565HisfsTer6) n.5061_5062insCATTACTTCATTACTT | ClinVar |
13 | g.32339412del | CA2622599906 | BRCA2 | c.5057del (p.Leu1686TyrfsTer20) c.4688del (p.Leu1563TyrfsTer20) n.5057del | gnomAD v4 |
13 | g.32339411_32339417del | CA2622599907 | BRCA2 | c.5056_5062del (p.Leu1686LysfsTer18) c.4687_4693del (p.Leu1563LysfsTer18) n.5056_5062del | gnomAD v4 |
13 | g.32339412T>A | CA10586533 | BRCA2 | c.5057T>A (p.Leu1686Ter) c.4688T>A (p.Leu1563Ter) n.5057T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339412T>C | CA387784032 | BRCA2 | c.5057T>C (p.Leu1686Ser) c.4688T>C (p.Leu1563Ser) n.5057T>C | gnomAD v4 |
13 | g.32339412T>G | CA387784031 | BRCA2 | c.5057T>G (p.Leu1686Ter) c.4688T>G (p.Leu1563Ter) n.5057T>G | |
13 | g.32339412T= | CA2082818467 | BRCA2 | c.5057T= (p.Leu1686=) c.4688T= (p.Leu1563=) n.5057T= | |
13 | g.32339413A>C | CA387784033 | BRCA2 | c.5058A>C (p.Leu1686Phe) c.4689A>C (p.Leu1563Phe) n.5058A>C | dbSNP |
13 | g.32339413A>G | CA483438554 | BRCA2 | c.5058A>G (p.Leu1686=) c.4689A>G (p.Leu1563=) n.5058A>G | dbSNP |
13 | g.32339413A>T | CA387784034 | BRCA2 | c.5058A>T (p.Leu1686Phe) c.4689A>T (p.Leu1563Phe) n.5058A>T | dbSNP |
13 | g.32339413_32339417delinsACTTG | CA2082818473 | BRCA2 | c.5058_5062delinsACTTG (p.Leu1686=) c.4689_4693delinsACTTG (p.Leu1563=) n.5058_5062delinsACTTG | |
13 | g.32339414C>A | CA387784035 | BRCA2 | c.5059C>A (p.Leu1687Ile) c.4690C>A (p.Leu1564Ile) n.5059C>A | dbSNP |
13 | g.32339414C= | CA2082818483 | BRCA2 | c.5059C= (p.Leu1687=) c.4690C= (p.Leu1564=) n.5059C= | |
13 | g.32339414C>G | CA387784036 | BRCA2 | c.5059C>G (p.Leu1687Val) c.4690C>G (p.Leu1564Val) n.5059C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339414C>T | CA387784037 | BRCA2 | c.5059C>T (p.Leu1687Phe) c.4690C>T (p.Leu1564Phe) n.5059C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339414_32339417del | CA609453780 | BRCA2 | c.5059_5062del (p.Leu1687LysfsTer18) c.4690_4693del (p.Leu1564LysfsTer18) n.5059_5062del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339415T>A | CA387784038 | BRCA2 | c.5060T>A (p.Leu1687His) c.4691T>A (p.Leu1564His) n.5060T>A | ClinVar dbSNP |
13 | g.32339415T>C | CA387784039 | BRCA2 | c.5060T>C (p.Leu1687Pro) c.4691T>C (p.Leu1564Pro) n.5060T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339415T>G | CA387784040 | BRCA2 | c.5060T>G (p.Leu1687Arg) c.4691T>G (p.Leu1564Arg) n.5060T>G | ClinVar dbSNP |
13 | g.32339415T= | CA2082818493 | BRCA2 | c.5060T= (p.Leu1687=) c.4691T= (p.Leu1564=) n.5060T= | |
13 | g.32339416del | CA2499222186 | BRCA2 | c.5061del (p.Glu1688LysfsTer18) c.4692del (p.Glu1565LysfsTer18) n.5061del | ClinVar dbSNP |
13 | g.32339416T>A | CA483438555 | BRCA2 | c.5061T>A (p.Leu1687=) c.4692T>A (p.Leu1564=) n.5061T>A | dbSNP gnomAD v4 |
13 | g.32339416T>C | CA483438556 | BRCA2 | c.5061T>C (p.Leu1687=) c.4692T>C (p.Leu1564=) n.5061T>C | ClinVar |
13 | g.32339416T>G | CA483438557 | BRCA2 | c.5061T>G (p.Leu1687=) c.4692T>G (p.Leu1564=) n.5061T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339416T= | CA2082818501 | BRCA2 | c.5061T= (p.Leu1687=) c.4692T= (p.Leu1564=) n.5061T= | |
13 | g.32339417G>A | CA387784041 | BRCA2 | c.5062G>A (p.Glu1688Lys) c.4693G>A (p.Glu1565Lys) n.5062G>A | ClinVar dbSNP |
13 | g.32339417G>C | CA387784042 | BRCA2 | c.5062G>C (p.Glu1688Gln) c.4693G>C (p.Glu1565Gln) n.5062G>C | dbSNP |
13 | g.32339417G= | CA2082818506 | BRCA2 | c.5062G= (p.Glu1688=) c.4693G= (p.Glu1565=) n.5062G= | |
13 | g.32339417G>T | CA387784043 | BRCA2 | c.5062G>T (p.Glu1688Ter) c.4693G>T (p.Glu1565Ter) n.5062G>T | dbSNP |
13 | g.32339418A>C | CA387784044 | BRCA2 | c.5063A>C (p.Glu1688Ala) c.4694A>C (p.Glu1565Ala) n.5063A>C | |
13 | g.32339418A>G | CA387784045 | BRCA2 | c.5063A>G (p.Glu1688Gly) c.4694A>G (p.Glu1565Gly) n.5063A>G | ClinVar dbSNP |
13 | g.32339418A>T | CA387784046 | BRCA2 | c.5063A>T (p.Glu1688Val) c.4694A>T (p.Glu1565Val) n.5063A>T | dbSNP |
13 | g.32339419dup | CA2573149321 | BRCA2 | c.5064dup (p.Ala1689SerfsTer6) c.4695dup (p.Ala1566SerfsTer6) n.5064dup | ClinVar dbSNP |
13 | g.32339419A>C | CA387784048 | BRCA2 | c.5064A>C (p.Glu1688Asp) c.4695A>C (p.Glu1565Asp) n.5064A>C | |
13 | g.32339419A>G | CA483438558 | BRCA2 | c.5064A>G (p.Glu1688=) c.4695A>G (p.Glu1565=) n.5064A>G | ClinVar dbSNP |
13 | g.32339419A>T | CA387784047 | BRCA2 | c.5064A>T (p.Glu1688Asp) c.4695A>T (p.Glu1565Asp) n.5064A>T | dbSNP |
13 | g.32339419_32339421delinsAGC | CA2082818511 | BRCA2 | c.5064_5066delinsAGC (p.Glu1688=) c.4695_4697delinsAGC (p.Glu1565=) n.5064_5066delinsAGC | |
13 | g.32339420G>A | CA6940844 | BRCA2 | c.5065G>A (p.Ala1689Thr) c.4696G>A (p.Ala1566Thr) n.5065G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339420G>C | CA387784049 | BRCA2 | c.5065G>C (p.Ala1689Pro) c.4696G>C (p.Ala1566Pro) n.5065G>C | dbSNP |
13 | g.32339420G= | CA2082818529 | BRCA2 | c.5065G= (p.Ala1689=) c.4696G= (p.Ala1566=) n.5065G= | |
13 | g.32339420G>T | CA387784050 | BRCA2 | c.5065G>T (p.Ala1689Ser) c.4696G>T (p.Ala1566Ser) n.5065G>T | dbSNP |
13 | g.32339420_32339421del | CA609453781 | BRCA2 | c.5065_5066del (p.Ala1689LysfsTer5) c.4696_4697del (p.Ala1566LysfsTer5) n.5065_5066del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339420_32339421delinsAAA | CA021195 | BRCA2 | c.5065_5066delinsAAA (p.Ala1689LysfsTer6) c.4696_4697delinsAAA (p.Ala1566LysfsTer6) n.5065_5066delinsAAA | ClinVar dbSNP |
13 | g.32339421del | CA2573149322 | BRCA2 | c.5066del (p.Ala1689GlufsTer17) c.4697del (p.Ala1566GlufsTer17) n.5066del | ClinVar dbSNP |
13 | g.32339421C>A | CA387784051 | BRCA2 | c.5066C>A (p.Ala1689Glu) c.4697C>A (p.Ala1566Glu) n.5066C>A | gnomAD v4 |
13 | g.32339421C>G | CA387784052 | BRCA2 | c.5066C>G (p.Ala1689Gly) c.4697C>G (p.Ala1566Gly) n.5066C>G | |
13 | g.32339421C>T | CA387784053 | BRCA2 | c.5066C>T (p.Ala1689Val) c.4697C>T (p.Ala1566Val) n.5066C>T | ClinVar gnomAD v4 |
13 | g.32339421_32339425delinsCAAAA | CA2082818537 | BRCA2 | c.5066_5070delinsCAAAA (p.Ala1689=) c.4697_4701delinsCAAAA (p.Ala1566=) n.5066_5070delinsCAAAA |