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. 2019 Nov;35(6):571–584. doi: 10.6515/ACS.201911_35(6).20190402A

Supplementary Table 2. List of TTN missense variants identified in the study group.

Patient ID Mutation type AA change (Q8WZ42-1) Exon Domain Nucleotide change (NM_001256850) dbSNP ClinVar AMA and ACMG recommended guidelines SIFT Polyphen2 Mutation taster 1000 Genomes ASN ExAC ASN Normal control (allele fre, %) Non-TTN gene mutation
I-band                              
 NGS072 Missense p.A9522V 103 Unique sequence c.C28565T rs578069922   Uncertain significance D D D 0.001 0 0  
 NGS009 Missense p.V11879I 169 PEVK 27 c.G35635A rs587780488 Likely benign Uncertain significance D D D 0 0 0  
 NGS059 Missense p.R12167H 176 I81 Ig c.G36500A -   Uncertain significance D D D 0 0.0002 0  
 NGS064 Missense p.P13572S 197 I92 Ig c.C40714T rs867112278   Uncertain significance D P D 0 0 0  
A-band (D-zone)                              
 NGS066 Missense p.R15445H 221 A12 FN3 c.G46334A rs72632860 - Uncertain significance D D D 0 0.0002 0  
 NGS014 Missense p.V17255M 241 A25 FN3 c.G51763A rs370629962 Likely benign; Uncertain significance Uncertain significance D P D 0 0.0012 0  
 NGS041 Missense p.I17637V 245 A27 FN3 c.A52909G rs56025724 - Uncertain significance D D D 0 0 0  
A-band (C-zone)                              
 NGS031 Missense p.F21385S 274 A113 Ig c.T64154C rs375365023 - Uncertain significance D P D 0 0 0  
 NGS017 Missense p.P22706L 276 A65 FN3 c.C68117T rs762412998 - Uncertain significance D D D 0 0 0  
 NGS011 Missense p.N23202D 276 A68 FN3 c.A69604G rs373527654 Uncertain significance Uncertain significance D D D 0 0.0005 0  
 NGS013 Missense p.Y24227H 276 A121 Ig c.T72679C rs755691336 - Uncertain significance D D D 0 0.0007 0  
 NGS018 Missense p.G24255V 276 A76 FN3 c.G72764T rs766283033 - Uncertain significance D D D 0 0.0006 0 MYBPC3: p.P186L; p.Q508X
 NGS059 Missense p.L24309F 276 A76 FN3 c.C72925T rs376814602 Uncertain significance Uncertain significance D D D 0.003 0.0022 0  
 NGS039 Missense p.C25096S 276 A82 FN3 c.T75286A rs566764105 Uncertain significance Uncertain significance D P D 0.001 0.0001 0  
 NGS066 Missense p.R25922C 276 A88 FN3 c.C77764T rs72648214 Uncertain significance Uncertain significance D P D 0 0.0001 0  
 NGS027 Missense p.P26910T 276 Unique sequence c.C80728A rs142478636 Likely benign Uncertain significance D P D 0 0.0001 0  
 NGS038 Missense p.R27734C 280 A102 FN3 c.C83200T rs368439674 Uncertain significance Uncertain significance D P D 0 0.0006 0  
 NGS064 Missense p.S28585P 285 A108 FN3 c.T85753C rs1334122653 - Uncertain significance D D D 0 0 0  
 NGS069 Missense p.H29228Y 289 A113 FN3 c.C87682T - - Uncertain significance D P D 0 0 0  
 NGS022 Missense p.P29444L 289 A114 FN3 c.C88331T rs549841864 Likely benign; Uncertain significance Uncertain significance D P D 0.001 0.0015 0  
 NGS075 Missense p.P29444L 289 A114 FN3 c.C88331T rs549841864 Likely benign; Uncertain significance Uncertain significance D P D 0.001 0.0015 0  
 NGS020 Missense p.T30729N 298 A138 Ig c.C92186A rs146098114 - Uncertain significance D D D 0 0.0007 0  
 NGS018 Missense p.E31056D 301 A125 FN3 c.A93168C rs748057839 - Uncertain significance D D D 0 0.0005 0 MYBPC3: p.P186L; p.Q508X
M-band                              
 NGS011 Missense p.K31616T 305 Unique sequence c.A94847C rs766867347 - Uncertain significance D P D 0 0.0008 0  

D, Deleterious/Disease causing; P, probably damaging.