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. 2017 Aug 24;12(8):e0183690. doi: 10.1371/journal.pone.0183690

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