Gene | dbSNP ID | Chromosomal location | Exon (intron) | DNA Sequence | Variant name |
---|---|---|---|---|---|
LDLR | rs121908026 | Chr19:11216112 | Exon 4 | Reference: AGATGGCTCGGATGAGT Variant: AGATGGCTTGGATGAGT | Missense variant NM_000527.4:c.530C > T p.Ser177Leu |
LDLR | rs2738442 | Chr 19:11221454 | Intron 7 | Reference: GTGATTTCCGGGTGGGAC Variant: GTGATTCCCGGGTGGGAC | Intronic variant NM_000527.4: c.1060 + 7 T > C |
ABCG8 | rs11887534 | Chr 2:44066247 | Exon 1 | Reference: CTCCCCAGCATACCTCG Variant: CTCCCCAGGATACCTCG | missense variant NM_022437.2:c.55G > C p.Asp19His |