Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.30897427A>C | CA3704779 | DDR1 | c.2046A>C (p.Pro682=) c.1935A>C (p.Pro645=) c.1242A>C (p.Pro414=) c.1608A>C (p.Pro536=) c.*1103A>C (n.*1103A>C) c.116A>C c.1989A>C (p.Pro663=) c.2064A>C (p.Pro688=) c.*163A>C (n.*163A>C) c.2100A>C (p.Pro700=) c.2118A>C (p.Pro706=) c.2007A>C (p.Pro669=) c.1953A>C (p.Pro651=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30897427A= | CA1618917808 | DDR1 | c.2046A= (p.Pro682=) c.1935A= (p.Pro645=) c.1242A= (p.Pro414=) c.1608A= (p.Pro536=) c.*1103A= (n.*1103A=) c.116A= c.1989A= (p.Pro663=) c.2064A= (p.Pro688=) c.*163A= (n.*163A=) c.2100A= (p.Pro700=) c.2118A= (p.Pro706=) c.2007A= (p.Pro669=) c.1953A= (p.Pro651=) | dbSNP |