| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101095633G>A | CA7035465 | NALCN | c.3210C>T (p.Asn1070=) c.2931C>T (p.Asn977=) c.3297C>T (p.Asn1099=) c.3123C>T (p.Asn1041=) c.3267C>T (p.Asn1089=) c.3180C>T (p.Asn1060=) c.2988C>T (p.Asn996=) c.2763C>T (p.Asn921=) c.2445C>T (p.Asn815=) c.3354C>T (p.Asn1118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101095633G= | CA2114394819 | NALCN | c.3210C= (p.Asn1070=) c.2931C= (p.Asn977=) c.3297C= (p.Asn1099=) c.3123C= (p.Asn1041=) c.3267C= (p.Asn1089=) c.3180C= (p.Asn1060=) c.2988C= (p.Asn996=) c.2763C= (p.Asn921=) c.2445C= (p.Asn815=) c.3354C= (p.Asn1118=) | dbSNP |