PMID: 26415676

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

BMC medical genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
2015-09-28

90 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21228827-C-T APOB c.10913G>A p.Arg3638Gln Missense 26/29 -
19-11200282-G-A LDLR c.58G>A p.Gly20Arg Missense 1/18 -
1-25883613-G-C LDLRAP1 c.345-31G>C - IntronicSNV - 3/8
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
2-21247978-T-A APOB c.2263A>T p.Met755Leu Missense 16/29 -
2-21247978-T-G APOB c.2263A>C p.Met755Leu Missense 16/29 -
2-21252772-G-A APOB c.1468C>T p.Arg490Trp Missense 11/29 -
2-21232455-A-T APOB c.7285T>A p.Ser2429Thr Missense 26/29 -
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
19-11227525-G-A LDLR c.1706-10G>A - IntronicSNV - 11/17
1-25895277-G-C LDLRAP1 c.*1794G>C - 3-UTRSNV 9/9 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
19-11233841-T-G LDLR c.2141-9T>G - IntronicSNV - 14/17
2-21234674-C-T APOB c.5066G>A p.Arg1689His Missense 26/29 -
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-25889672-G-A LDLRAP1 c.616+28G>A - IntronicSNV - 6/8
1-55529332-C-T PCSK9 c.*75C>T - 3-UTRSNV 12/12 -
19-11242273-G-A LDLR c.*281G>A - 3-UTRSNV 18/18 -
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
19-11238808-G-A LDLR c.2389+47G>A - IntronicSNV - 16/17
1-25895277-G-A LDLRAP1 c.*1794G>A - 3-UTRSNV 9/9 -
19-11224157-C-T LDLR c.1358+32C>T - IntronicSNV - 9/17
1-55529285-G-A PCSK9 c.*28G>A - 3-UTRSNV 12/12 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
2-21249716-C-T APOB c.2188G>A p.Val730Ile Missense 15/29 -
1-25890247-C-T LDLRAP1 c.712C>T p.Arg238Trp Missense 7/9 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
2-21238413-C-G APOB c.3337G>C p.Asp1113His Missense 22/29 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
19-11211165-G-A LDLR c.190+144G>A - IntronicSNV - 2/17
2-21233456-A-T APOB c.6284T>A p.Val2095Glu Missense 26/29 -
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
19-11244008-G-A LDLR c.*2016G>A - 3-UTRSNV 18/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
2-21256405-G-C APOB c.905-15C>G - IntronicSNV - 8/28
1-55518093-G-A PCSK9 c.657+9G>A - IntronicSNV - 4/11
19-11242765-A-G LDLR c.*773A>G - 3-UTRSNV 18/18 -
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
2-21224853-C-T APOB c.13441G>A p.Ala4481Thr Missense 29/29 -
1-55529671-C-T PCSK9 c.*414C>T - 3-UTRSNV 12/12 -
2-21227936-G-A APOB c.11788+16C>T - IntronicSNV - 26/28
1-55505447-C-T PCSK9 c.1-64C>T - 5-UTRSNV 1/12 -
19-11242044-G-A LDLR c.*52G>A - 3-UTRSNV 18/18 -
19-11217407-C-T LDLR c.817+44C>T - IntronicSNV - 5/17
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
1-55529671-C-G PCSK9 c.*414C>G - 3-UTRSNV 12/12 -
1-55529491-C-T PCSK9 c.*234C>T - 3-UTRSNV 12/12 -
19-11242496-G-A LDLR c.*504G>A - 3-UTRSNV 18/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
1-25889632-T-C LDLRAP1 c.604T>C p.Ser202Pro Missense 6/9 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
1-55517940-G-A PCSK9 c.524-11G>A - IntronicSNV - 3/11
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
2-21232044-C-T APOB c.7696G>A p.Glu2566Lys Missense 26/29 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
2-21224423-G-A APOB c.*179C>T - 3-UTRSNV 29/29 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
1-25883842-G-A LDLRAP1 c.459+84G>A - IntronicSNV - 4/8
2-21227996-G-C APOB c.11744C>G p.Ser3915Cys Missense 26/29 -
2-21260024-C-T APOB c.641G>A p.Arg214His Missense 6/29 -
1-25883780-G-T LDLRAP1 c.459+22G>T - IntronicSNV - 4/8
19-11242133-G-A LDLR c.*141G>A - 3-UTRSNV 18/18 -
1-55505224-G-A PCSK9 c.1-287G>A - 5-UTRSNV 1/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
19-11238807-C-T LDLR c.2389+46C>T - IntronicSNV - 16/17
1-55529602-C-T PCSK9 c.*345C>T - 3-UTRSNV 12/12 -
2-21260024-C-A APOB c.641G>T p.Arg214Leu Missense 6/29 -
19-11244008-G-C LDLR c.*2016G>C - 3-UTRSNV 18/18 -
19-11222182-T-C LDLR c.1061-8T>C - IntronicSNV - 7/17
2-21258600-C-T APOB c.694-20G>A - IntronicSNV - 6/28
1-55529871-C-G PCSK9 c.*614C>G - 3-UTRSNV 12/12 -
2-21252820-T-C APOB c.1420A>G p.Ile474Val Missense 11/29 -
1-55529871-C-T PCSK9 c.*614C>T - 3-UTRSNV 12/12 -
1-25895238-C-A LDLRAP1 c.*1755C>A - 3-UTRSNV 9/9 -
2-21225354-T-C APOB c.12940A>G p.Ile4314Val Missense 29/29 -
19-11242330-G-A LDLR c.*338G>A - 3-UTRSNV 18/18 -
2-21227383-C-G APOB c.11903+50G>C - IntronicSNV - 27/28
1-25895238-C-T LDLRAP1 c.*1755C>T - 3-UTRSNV 9/9 -
2-21260937-A-G APOB c.430T>C p.Tyr144His Missense 5/29 -
19-11238802-C-A LDLR c.2389+41C>A - IntronicSNV - 16/17
2-21226252-A-G APOB c.12088-46T>C - IntronicSNV - 28/28
19-11238784-G-A LDLR c.2389+23G>A - IntronicSNV - 16/17
19-11211077-G-A LDLR c.190+56G>A - IntronicSNV - 2/17
2-21225500-A-G APOB c.12794T>C p.Val4265Ala Missense 29/29 -