Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43071080G>A | CA003041 | BRCA1 | c.4831C>T (p.Gln1611Ter) c.4834C>T (p.Gln1612Ter) c.4708C>T (p.Gln1570Ter) c.4828C>T (p.Gln1610Ter) c.4756C>T (p.Gln1586Ter) c.1522C>T (p.Gln508Ter) c.1384C>T (p.Gln462Ter) c.3946C>T (p.Gln1316Ter) c.4711C>T (p.Gln1571Ter) c.4900C>T (p.Gln1634Ter) c.4693C>T (p.Gln1565Ter) c.1396C>T (p.Gln466Ter) c.1441C>T (p.Gln481Ter) c.4897C>T (p.Gln1633Ter) c.1221C>T c.1408C>T (p.Gln470Ter) c.*4617C>T (n.*4617C>T) c.1147C>T (p.Gln383Ter) c.5-7129C>T (n.5-7129C>T) c.307C>T (p.Gln103Ter) c.-98-20890C>T (n.-98-20890C>T) n.4970C>T n.5011C>T | ClinVar dbSNP |
17 | g.43071080G>C | CA10591853 | BRCA1 | c.4831C>G (p.Gln1611Glu) c.4834C>G (p.Gln1612Glu) c.4708C>G (p.Gln1570Glu) c.4828C>G (p.Gln1610Glu) c.4756C>G (p.Gln1586Glu) c.1522C>G (p.Gln508Glu) c.1384C>G (p.Gln462Glu) c.3946C>G (p.Gln1316Glu) c.4711C>G (p.Gln1571Glu) c.4900C>G (p.Gln1634Glu) c.4693C>G (p.Gln1565Glu) c.1396C>G (p.Gln466Glu) c.1441C>G (p.Gln481Glu) c.4897C>G (p.Gln1633Glu) c.1221C>G c.1408C>G (p.Gln470Glu) c.*4617C>G (n.*4617C>G) c.1147C>G (p.Gln383Glu) c.5-7129C>G (n.5-7129C>G) c.307C>G (p.Gln103Glu) c.-98-20890C>G (n.-98-20890C>G) n.4970C>G n.5011C>G | dbSNP |
17 | g.43071080G>T | CA10591854 | BRCA1 | c.4831C>A (p.Gln1611Lys) c.4834C>A (p.Gln1612Lys) c.4708C>A (p.Gln1570Lys) c.4828C>A (p.Gln1610Lys) c.4756C>A (p.Gln1586Lys) c.1522C>A (p.Gln508Lys) c.1384C>A (p.Gln462Lys) c.3946C>A (p.Gln1316Lys) c.4711C>A (p.Gln1571Lys) c.4900C>A (p.Gln1634Lys) c.4693C>A (p.Gln1565Lys) c.1396C>A (p.Gln466Lys) c.1441C>A (p.Gln481Lys) c.4897C>A (p.Gln1633Lys) c.1221C>A c.1408C>A (p.Gln470Lys) c.*4617C>A (n.*4617C>A) c.1147C>A (p.Gln383Lys) c.5-7129C>A (n.5-7129C>A) c.307C>A (p.Gln103Lys) c.-98-20890C>A (n.-98-20890C>A) n.4970C>A n.5011C>A | dbSNP |