From: Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
SADS Case ID | Variant | HGMD ID | dbSNP ID | Transcript change | Amino Acid change | ACMG Classification |
---|---|---|---|---|---|---|
KCNE1 (NM_000219.5/NP_000210.2) | ||||||
314 | A | rs75610894 | c.142C > T | p.L48F | VUS | |
KCNE2 (NM_172201.1/NP_751951.1) | ||||||
756 | B | CM003449 | rs2234916 | c.22A > G | p.T8A | VUS |
KCNH2 (NM_000238.3/NP_000229.1) | ||||||
998 | C | CM057124 | rs199473420 | c.211G > C | p.G71R | Likely Pathogenic |
217 | D | CM002298 | rs138776684 | c.1039C > T | p.P347S | VUS |
411 | E | c.2564G > A | p.S855 N | VUS | ||
714 | F | CM057119 | rs199473017 | c.2903C > T | p.P968L | VUS |
KCNQ1 (NM_000218.2/NP_000209.2) | ||||||
907 | G | CM139859 | rs794728567 | c.969G > A | p.W323* | Likely Pathogenic |
1006 | H | CM078293 | rs12720457 | c.1179G > C | p.K393 N | VUS |
910 | I | rs199472783 | c.1379G > A | p.G460D | VUS | |
1012 | J | rs794728542 | c.1829C > A | p.T610 N | VUS | |
RYR2 (NM_001035.2 /NP_001026.2) | ||||||
725 | K | rs766802574 | c.458C > T | p.T153I | Likely Pathogenic | |
9 | L | CM097927 | rs794728721 | c.1259G > A | p.R420Q | Pathogenic |
36 | M | c.5248G > A | p.G1750R | Likely Pathogenic | ||
916 | N | rs397516546 | c.5825 T > G | p.F1942C | VUS | |
306 | O | CM056049 | rs794728756 | c.7202G > A | p.R2401H | Likely Pathogenic |
914 | P | rs377763795 | c.7458 T > G | p.H2486Q | VUS | |
708# | Q | CM1515197 | rs201500134 | c.8162 T > C | p.I2721T | VUS |
$ & | R | rs117180147 | c.10231-4 T > C | VUS | ||
403 | S | c.10681C > G | p.L3561 V | Likely Pathogenic | ||
759 | T | CM024349 | rs794728777 | c.11836G > A | p.G3946S | Pathogenic |
38 | U | CM148846 | c.13823G > A | p.R4608Q | Pathogenic | |
SCN5A (NM_198056.2/NP_932173.1) | ||||||
1034 | V | CM033019 | rs45620037 | c.659C > T | p.T220I | Likely Pathogenic |
746& | W | CM034060 | rs36210423 | c.1715C > A | p.A572D | Likely Benign |
727 | X | rs72549411 | c.2437-5C > A | VUS | ||
738 | Y | CM086913 | rs41311117 | c.6010 T > C | p.F2004 L | VUS |
708# | Z | CM004144 | rs45489199 | c.6016C > G | p.P2006A | VUS |