| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23907863A>T | CA341811 | LAMA3 | c.2116A>T (p.Arg706Ter) c.6943A>T (p.Arg2315Ter) c.3611-1290A>T (n.3611-1290A>T) c.6775A>T (p.Arg2259Ter) c.1721A>T c.1948A>T (p.Arg650Ter) n.1521A>T c.6970A>T (p.Arg2324Ter) c.6961A>T (p.Arg2321Ter) c.6952A>T (p.Arg2318Ter) c.6838A>T (p.Arg2280Ter) c.6746-1290A>T (n.6746-1290A>T) c.4822A>T (p.Arg1608Ter) c.2512A>T (p.Arg838Ter) n.7211A>T | ClinVar dbSNP |
| 18 | g.23907863A= | CA2290326009 | LAMA3 | c.2116A= (p.Arg706=) c.6943A= (p.Arg2315=) c.3611-1290A= (n.3611-1290A=) c.6775A= (p.Arg2259=) c.1721A= c.1948A= (p.Arg650=) n.1521A= c.6970A= (p.Arg2324=) c.6961A= (p.Arg2321=) c.6952A= (p.Arg2318=) c.6838A= (p.Arg2280=) c.6746-1290A= (n.6746-1290A=) c.4822A= (p.Arg1608=) c.2512A= (p.Arg838=) n.7211A= | dbSNP |
| 18 | g.23907863A>G | CA402053439 | LAMA3 | c.2116A>G (p.Arg706Gly) c.6943A>G (p.Arg2315Gly) c.3611-1290A>G (n.3611-1290A>G) c.6775A>G (p.Arg2259Gly) c.1721A>G c.1948A>G (p.Arg650Gly) n.1521A>G c.6970A>G (p.Arg2324Gly) c.6961A>G (p.Arg2321Gly) c.6952A>G (p.Arg2318Gly) c.6838A>G (p.Arg2280Gly) c.6746-1290A>G (n.6746-1290A>G) c.4822A>G (p.Arg1608Gly) c.2512A>G (p.Arg838Gly) n.7211A>G | dbSNP |