| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23380731C>T | CA279491638 | SCNN1B | c.1853C>T (p.Pro618Leu) c.1988C>T (p.Pro663Leu) c.*858C>T (n.*858C>T) c.1745C>T (p.Pro582Leu) c.1772C>T (p.Pro591Leu) c.1886C>T (p.Pro629Leu) c.1871C>T (p.Pro624Leu) c.1910C>T (p.Pro637Leu) c.1802C>T (p.Pro601Leu) | dbSNP gnomAD v4 |
| 16 | g.23380731C>G | CA279491640 | SCNN1B | c.1853C>G (p.Pro618Arg) c.1988C>G (p.Pro663Arg) c.*858C>G (n.*858C>G) c.1745C>G (p.Pro582Arg) c.1772C>G (p.Pro591Arg) c.1886C>G (p.Pro629Arg) c.1871C>G (p.Pro624Arg) c.1910C>G (p.Pro637Arg) c.1802C>G (p.Pro601Arg) | dbSNP |
| 16 | g.23380731C= | CA2213314932 | SCNN1B | c.1853C= (p.Pro618=) c.1988C= (p.Pro663=) c.*858C= (n.*858C=) c.1745C= (p.Pro582=) c.1772C= (p.Pro591=) c.1886C= (p.Pro629=) c.1871C= (p.Pro624=) c.1910C= (p.Pro637=) c.1802C= (p.Pro601=) | dbSNP |