| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550355G>C | CA019601 | SCN5A | c.6014C>G (p.Pro2005Arg) c.6017C>G (p.Pro2006Arg) c.5963C>G (p.Pro1988Arg) c.5855C>G (p.Pro1952Arg) c.5918C>G (p.Pro1973Arg) c.5888C>G (p.Pro1963Arg) c.5960C>G (p.Pro1987Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550355G>A | CA019607 | SCN5A | c.6014C>T (p.Pro2005Leu) c.6017C>T (p.Pro2006Leu) c.5963C>T (p.Pro1988Leu) c.5855C>T (p.Pro1952Leu) c.5918C>T (p.Pro1973Leu) c.5888C>T (p.Pro1963Leu) c.5960C>T (p.Pro1987Leu) | ClinVar dbSNP |
| 3 | g.38550355G= | CA1358561716 | SCN5A | c.6014C= (p.Pro2005=) c.6017C= (p.Pro2006=) c.5963C= (p.Pro1988=) c.5855C= (p.Pro1952=) c.5918C= (p.Pro1973=) c.5888C= (p.Pro1963=) c.5960C= (p.Pro1987=) | dbSNP |