| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18538188C>T | CA5430006 | CACNB2,NSUN6 | c.1167C>T (p.Phe389=) c.1032C>T (p.Phe344=) c.1155C>T (p.Phe385=) c.1227C>T (p.Phe409=) c.1311C>T (p.Phe437=) c.1149C>T (p.Phe383=) c.936C>T (p.Phe312=) c.1113C>T (p.Phe371=) c.*452C>T (n.*452C>T) c.1053C>T (p.Phe351=) c.*585C>T (n.*585C>T) c.868C>T (n.868C>T) c.*550C>T (n.*550C>T) c.1131C>T (p.Phe377=) c.*411C>T (n.*411C>T) c.1239C>T (p.Phe413=) c.561C>T (p.Phe187=) c.1146C>T (p.Phe382=) c.1015C>T (n.1015C>T) c.35-1076C>T (n.35-1076C>T) c.396C>T (p.Phe132=) c.1074C>T (p.Phe358=) c.1197C>T (p.Phe399=) c.471C>T (p.Phe157=) c.1077C>T (p.Phe359=) n.72+1006G>A n.2423+3881G>A n.1436C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18538188C>G | CA376070006 | CACNB2,NSUN6 | c.1167C>G (p.Phe389Leu) c.1032C>G (p.Phe344Leu) c.1155C>G (p.Phe385Leu) c.1227C>G (p.Phe409Leu) c.1311C>G (p.Phe437Leu) c.1149C>G (p.Phe383Leu) c.936C>G (p.Phe312Leu) c.1113C>G (p.Phe371Leu) c.*452C>G (n.*452C>G) c.1053C>G (p.Phe351Leu) c.*585C>G (n.*585C>G) c.868C>G (n.868C>G) c.*550C>G (n.*550C>G) c.1131C>G (p.Phe377Leu) c.*411C>G (n.*411C>G) c.1239C>G (p.Phe413Leu) c.561C>G (p.Phe187Leu) c.1146C>G (p.Phe382Leu) c.1015C>G (n.1015C>G) c.35-1076C>G (n.35-1076C>G) c.396C>G (p.Phe132Leu) c.1074C>G (p.Phe358Leu) c.1197C>G (p.Phe399Leu) c.471C>G (p.Phe157Leu) c.1077C>G (p.Phe359Leu) n.72+1006G>C n.2423+3881G>C n.1436C>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.18538188C>A | CA301842 | CACNB2,NSUN6 | c.1167C>A (p.Phe389Leu) c.1032C>A (p.Phe344Leu) c.1155C>A (p.Phe385Leu) c.1227C>A (p.Phe409Leu) c.1311C>A (p.Phe437Leu) c.1149C>A (p.Phe383Leu) c.936C>A (p.Phe312Leu) c.1113C>A (p.Phe371Leu) c.*452C>A (n.*452C>A) c.1053C>A (p.Phe351Leu) c.*585C>A (n.*585C>A) c.868C>A (n.868C>A) c.*550C>A (n.*550C>A) c.1131C>A (p.Phe377Leu) c.*411C>A (n.*411C>A) c.1239C>A (p.Phe413Leu) c.561C>A (p.Phe187Leu) c.1146C>A (p.Phe382Leu) c.1015C>A (n.1015C>A) c.35-1076C>A (n.35-1076C>A) c.396C>A (p.Phe132Leu) c.1074C>A (p.Phe358Leu) c.1197C>A (p.Phe399Leu) c.471C>A (p.Phe157Leu) c.1077C>A (p.Phe359Leu) n.72+1006G>T n.2423+3881G>T n.1436C>A | ClinVar dbSNP |