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. Author manuscript; available in PMC: 2021 Apr 25.
Published in final edited form as: Circ Genom Precis Med. 2020 Mar 11;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480

Table 3.

Variant Details for Likely Pathogenic and Pathogenic Variants, by Ethnicity and Ancestry

Adjudication Ethnicity, Ancestry Gene HGVSc HGVSp Impacts
Pathogenic Non-Hispanic, White LMNA NM_170707.3:c.673C>T NP_733821.1:p.Arg225Ter Stop Gained
TNNT2 NM_000364.3:c.650_652delAGA
NM_001001430.2:c.629_631delAGA
NP_000355.2:p.Lys217del
NP_001001430.1:p.Lys210del
Inframe Deletion
TTN NM_001267550.1:c.61876C>T
NM_133378.4:c.54172C>T
NP_001254479.1:p.Arg20626Ter
NP_596869.4:p.Arg18058Ter
Stop Gained
Likely Pathogenic Non-Hispanic, White BAG3 NM_004281.3:c.1417C>T NP_004272.2:p.Arg473Ter Stop Gained
FLNC NM_001458.4:c.4926_4927insACGTCACA NP_001449.3:p.Val1643ThrfsTer26 Frameshift Variant
FLNC NM_001458.4:c.1948C>T NP_001449.3:p.Arg650Ter Stop Gained
LMNA NM_170707.3:c.949G>A NP_733821.1:p.Glu317Lys Missense Variant
RBM20 NM_001134363.1:c.1906C>T NP_001127835.1:p.Arg636Cys Missense Variant
TTN NM_001267550.1:c.90844delA
NM_133378.4:c.83140delA
NP_001254479.1:p.Thr30282ArgfsTer8
NP_596869.4:p.Thr27714ArgfsTer8
Frameshift Variant
TTN NM_001267550.1:c.88703_88704delAC
NM_133378.4:c.80999_81000delAC
NP_001254479.1:p.His29568LeufsTer7
NP_596869.4:p.His27000LeufsTer7
Frameshift Variant
TTN NM_001267550.1:c.66804_66807delGAAG
NM_133378.4:c.59100_59103delGAAG
NP_001254479.1:p.Lys22269HisfsTer10
NP_596869.4:p.Lys19701HisfsTer10
Frameshift Variant
TTN NM_001267550.1:c.64915C>T
NM_133378.4:c.57211C>T
NP_001254479.1:p.Arg21639Ter
NP_596869.4:p.Arg19071Ter
Stop Gained
TTN NM_001267550.1:c.71307_71310dupTGAC
NM_133378.4:c.63603_63606dupTGAC
NP_001254479.1:p.Ser23771Ter
NP_596869.4:p.Ser21203Ter
Frameshift Variant
Non-Hispanic, African Ancestry TTN NM_001267550.1:c.83515C>T
NM_133378.4:c.75811C>T
NP_001254479.1:p.Arg27839Ter
NP_596869.4:p.Arg25271Ter
Stop Gained
TTN NM_001267550.1:c.66931_66932delAA
NM_133378.4:c.59227_59228delAA
NP_001254479.1:p.Lys22311ValfsTer3
NP_596869.4:p.Lys19743ValfsTer3
Frameshift Variant