| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228684C>A | CA408086461 | SLC4A11 | c.2216G>T (p.Arg739Leu) c.2147G>T (p.Arg716Leu) c.2087G>T (p.Arg696Leu) c.2102G>T (p.Arg701Leu) c.2264G>T (p.Arg755Leu) c.2345G>T (p.Arg782Leu) c.*364G>T (n.*364G>T) c.2585G>T (p.Arg862Leu) c.2159G>T (p.Arg720Leu) c.2183G>T (p.Arg728Leu) n.2314G>T c.2579G>T (p.Arg860Leu) n.2759G>T n.2739G>T c.2231G>T (p.Arg744Leu) n.2724G>T | ClinVar dbSNP |
| 20 | g.3228684C>T | CA250433 | SLC4A11 | c.2216G>A (p.Arg739Gln) c.2147G>A (p.Arg716Gln) c.2087G>A (p.Arg696Gln) c.2102G>A (p.Arg701Gln) c.2264G>A (p.Arg755Gln) c.2345G>A (p.Arg782Gln) c.*364G>A (n.*364G>A) c.2585G>A (p.Arg862Gln) c.2159G>A (p.Arg720Gln) c.2183G>A (p.Arg728Gln) n.2314G>A c.2579G>A (p.Arg860Gln) n.2759G>A n.2739G>A c.2231G>A (p.Arg744Gln) n.2724G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3228684C= | CA2346475115 | SLC4A11 | c.2216G= (p.Arg739=) c.2147G= (p.Arg716=) c.2087G= (p.Arg696=) c.2102G= (p.Arg701=) c.2264G= (p.Arg755=) c.2345G= (p.Arg782=) c.*364G= (n.*364G=) c.2585G= (p.Arg862=) c.2159G= (p.Arg720=) c.2183G= (p.Arg728=) n.2314G= c.2579G= (p.Arg860=) n.2759G= n.2739G= c.2231G= (p.Arg744=) n.2724G= | dbSNP |