Gene | cDNA | Protein | Mutation type | Genomic region | Protein region | Phenotype | References |
---|---|---|---|---|---|---|---|
SCN5A | NM_000335 | NP_000326 | |||||
DK | c.611+ 1G > A | Intronic splice | Splice-site | IVS5 | D1-S3 | RWS | This study |
DK | c.955C > A | p.G319S | Missense | Exon_08 | D1-S5-S6 | RWS | [7] |
c.1018C > T | p.R340W | Missense | Exon_09 | D1-S5-S6 | RWS | [4] | |
DK | c.1141-3C > A | Intronic splice | Splice-site | IVS9 | D1-S6 | RWS | This study |
c.1231G > A | p.V411M | Missense | Exon_10 | D1-S6 | RWS | ||
c.4783T > A | p.F1595I | Missense | Exon_27 | DIV-S3 | RWS | [4] | |
DK | c.4786G > A | p.V1596M | Missense | Exon_27 | DIV-S3 | RWS | This study |
DK | c.5354T > A* | p.L1785Q | Missense | Exon_28 | C-term | RWS | This study |
c.6013C > G* | p.P2005A | Missense | Exon_28 | C-term | RWS | [53] | |
KCNE1 | NM_000219 | NP_000210 | |||||
DK | c.179G > A | p.G60D | Missense | Exon_03 | TM | RWS | This study |
c.226G > A* | p.D76N | Missense | Exon_03 | Cyto | RWS | ||
DK | c.277G > A | p.A93T | Missense | Exon_03 | Cyto | RWS | This study |
KCNE2 | NM_172201 | NP_751951 | |||||
c.170T > C* | p.I57T | Missense | Exon_02 | TM | RWS | ||
c.193G > A* | p.V65M | Missense | Exon_02 | TM | RWS | [59] |