PMID: 29399563

Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam medical journal
HN Kim, SS Kweon, MH Shin
2018-01

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11233909-ACA-TTT LDLR c.2200_2202delACAinsTTT p.Thr734Phe Missense 15/18 -
19-11227576-C-T LDLR c.1747C>T p.His583Tyr Missense 12/18 -
19-11231096-C-G LDLR c.2038C>G p.Leu680Val Missense 14/18 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
19-11215926-G-A LDLR c.344G>A p.Arg115His Missense 4/18 -
1-55509561-G-A PCSK9 c.253G>A p.Glu85Lys Missense 2/12 -
19-11221442-G-T LDLR c.1055G>T p.Cys352Phe Missense 7/18 -
19-11210970-G-A LDLR c.139G>A p.Asp47Asn Missense 2/18 -
1-55524312-C-T PCSK9 c.1495C>T p.Arg499Cys Missense 9/12 -
19-11227594-G-T LDLR c.1765G>T p.Asp589Tyr Missense 12/18 -
19-11226820-G-A LDLR c.1637G>A p.Gly546Asp Missense 11/18 -
19-11224398-G-A LDLR c.1546G>A p.Gly516Ser Missense 10/18 -
19-11215977-G-A LDLR c.395G>A p.Arg132Gln Missense 4/18 -
19-11216243-G-A LDLR c.661G>A p.Asp221Asn Missense 4/18 -
19-11227594-G-A LDLR c.1765G>A p.Asp589Asn Missense 12/18 -
19-11216010-G-A LDLR c.428G>A p.Cys143Tyr Missense 4/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11217315-C-T LDLR c.769C>T p.Arg257Trp Missense 5/18 -