Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43082434G>T | CA500148359 | BRCA1 | c.4327C>A (p.Arg1443=) c.4201C>A (p.Arg1401=) c.4321C>A (p.Arg1441=) c.4249C>A (p.Arg1417=) c.1015C>A (p.Arg339=) c.877C>A (p.Arg293=) c.3439C>A (p.Arg1147=) c.4204C>A (p.Arg1402=) c.4186C>A (p.Arg1396=) c.892C>A (p.Arg298=) c.937C>A (p.Arg313=) c.648C>A c.901C>A (p.Arg301=) c.*4110C>A (n.*4110C>A) c.621C>A c.1018C>A (p.Arg340=) c.640C>A (p.Arg214=) c.643C>A (p.Arg215=) c.5-18483C>A (n.5-18483C>A) c.-43-7913C>A (n.-43-7913C>A) c.-98-32244C>A (n.-98-32244C>A) n.221C>A n.4463C>A n.4504C>A | dbSNP |
17 | g.43082434G>A | CA002769 | BRCA1 | c.4327C>T (p.Arg1443Ter) c.4201C>T (p.Arg1401Ter) c.4321C>T (p.Arg1441Ter) c.4249C>T (p.Arg1417Ter) c.1015C>T (p.Arg339Ter) c.877C>T (p.Arg293Ter) c.3439C>T (p.Arg1147Ter) c.4204C>T (p.Arg1402Ter) c.4186C>T (p.Arg1396Ter) c.892C>T (p.Arg298Ter) c.937C>T (p.Arg313Ter) c.648C>T c.901C>T (p.Arg301Ter) c.*4110C>T (n.*4110C>T) c.621C>T c.1018C>T (p.Arg340Ter) c.640C>T (p.Arg214Ter) c.643C>T (p.Arg215Ter) c.5-18483C>T (n.5-18483C>T) c.-43-7913C>T (n.-43-7913C>T) c.-98-32244C>T (n.-98-32244C>T) n.221C>T n.4463C>T n.4504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.43082434G>C | CA002768 | BRCA1 | c.4327C>G (p.Arg1443Gly) c.4201C>G (p.Arg1401Gly) c.4321C>G (p.Arg1441Gly) c.4249C>G (p.Arg1417Gly) c.1015C>G (p.Arg339Gly) c.877C>G (p.Arg293Gly) c.3439C>G (p.Arg1147Gly) c.4204C>G (p.Arg1402Gly) c.4186C>G (p.Arg1396Gly) c.892C>G (p.Arg298Gly) c.937C>G (p.Arg313Gly) c.648C>G c.901C>G (p.Arg301Gly) c.*4110C>G (n.*4110C>G) c.621C>G c.1018C>G (p.Arg340Gly) c.640C>G (p.Arg214Gly) c.643C>G (p.Arg215Gly) c.5-18483C>G (n.5-18483C>G) c.-43-7913C>G (n.-43-7913C>G) c.-98-32244C>G (n.-98-32244C>G) n.221C>G n.4463C>G n.4504C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |