| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19971950C>T | CA10104919 | ARVCF | c.2717G>A (p.Arg906Gln) c.2528G>A (p.Arg843Gln) c.2699G>A (p.Arg900Gln) c.2510G>A (p.Arg837Gln) n.1639G>A c.2471G>A (p.Arg824Gln) c.2684G>A (p.Arg895Gln) c.1283G>A (p.Arg428Gln) c.1265G>A (p.Arg422Gln) n.2804G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19971950C>A | CA410693281 | ARVCF | c.2717G>T (p.Arg906Leu) c.2528G>T (p.Arg843Leu) c.2699G>T (p.Arg900Leu) c.2510G>T (p.Arg837Leu) n.1639G>T c.2471G>T (p.Arg824Leu) c.2684G>T (p.Arg895Leu) c.1283G>T (p.Arg428Leu) c.1265G>T (p.Arg422Leu) n.2804G>T | dbSNP |
| 22 | g.19971950C>G | CA410693282 | ARVCF | c.2717G>C (p.Arg906Pro) c.2528G>C (p.Arg843Pro) c.2699G>C (p.Arg900Pro) c.2510G>C (p.Arg837Pro) n.1639G>C c.2471G>C (p.Arg824Pro) c.2684G>C (p.Arg895Pro) c.1283G>C (p.Arg428Pro) c.1265G>C (p.Arg422Pro) n.2804G>C | dbSNP |