Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43082434G>TCA500148359BRCA1c.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
17g.43082434G>ACA002769BRCA1c.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
17g.43082434G>CCA002768BRCA1c.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

Number of alleles fetched