Table 1. Rare variants in AF.
Gene | n | Locus of mutation | NCBI Reference Sequence |
---|---|---|---|
SCN5A |
1 1 1 |
SCN5A/Exon2/c.73G>A/p.E25K SCN5A/Exon9/c.1036G>A/p.E346K SCN5A/Exon17/c.3190G>A/p. E1064K |
NM_000335.4 |
SCN1B |
3 2 |
SCN1B/Exon3_ext/c.448+193G>A/p.R214Q | NM_199037.3 |
SCN1B/Exon3_ext/c.448+321G>A/p.G257R | |||
SCN4B | 1 | SCN4B/Exon6/c.632C>G/p.T211R | NM_174934.3 |
GPD1L |
4 1 1 |
GPD1L/Exon4/c.370A>G/p.I124V GPD1L/Exon3/c.267C>A/p.D89E GPD1L/Exon4/c.391C>A/p.L131M |
NM_015141.3 |
MOG1 | 3 | MOG1, Exon 1_2/c.181G>T/p.E61X | NM_016492.4 |
SNTA1 |
1 2 |
SNTA1/Exon4/c.787G>T/p.A263S SNTA1/Exon3/c.556C>T/p.S189L |
NM_003098.2 |
CAV3 | 1 | CAV3/Exon2/c.433G>A/p.V145M | NM_033337.2 |