Table 2. List of TTN truncating 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 guidelines | SIFT | Polyphen2 | Mutation taster | 1000 Genomes ASN | ExAC ASN | Normal control (allele fre, %) | Other mutation |
| Z-disk | |||||||||||||||
| NGS008 | Nonsense | p.Q10X | 2 | I1 Ig | c.C28T | rs1309114959 | Pathogenic | D | - | A | 0 | 0 | 0 | - | |
| NGS036 | Frameshift | p.A475fs | 9 | Z-repeat 2 | c.1425delT | - | Pathogenic | - | - | D | 0 | 0 | 0 | - | |
| NGS067 | Frameshift | p.A475fs | 9 | Z-repeat 2 | c.1425delT | - | Pathogenic | - | D | 0 | 0 | 0 | - | ||
| A-Band | |||||||||||||||
| NGS047 | Frameshift | p.P12945fs | 187 | I86 Ig | c.38834delC | - | Pathogenic | - | - | D | 0 | 0 | 0 | - | |
| NGS009 | Nonsense | p.R14191X | 203 | A2 FN3 | c.C42571T | rs751746401 | Likely pathogenic | Pathogenic | D | - | A | 0 | 0 | 0 | TN: p.V11879I |
| NGS013 | Nonsense | p.R14191X | 203 | A2 FN3 | c.C42571T | rs751746401 | Likely pathogenic | Pathogenic | D | - | A | 0 | 0 | 0 | TTN: p.Y24227H |
| NGS032 | Splice site | - | 204 | Unique sequence | c.42650-2A>G | - | Pathogenic | - | - | D | 0 | 0 | 0 | - | |
| NGS033 | Nonsense | p.R16810X | 236 | I101 Ig | c.C50428T | rs1440093502 | Pathogenic | D | - | A | 0 | 0 | 0 | - | |
| NGS005 | Frameshift | p.P18143fs | 251 | I105 Ig | c.54428_54429del | rs886039027 | Likely pathogenic | Pathogenic | - | - | D | 0 | 0 | 0 | - |
| NGS066 | Nonsense | p.S20300X | 263 | I111 Ig | c.C60899A | - | Pathogenic | D | - | A | 0 | 0 | 0 | TTN: p.R15445H; p.R25922C | |
| NGS069 | Nonsense | p.G23394X | 276 | A70 FN3 | c.G70180T | - | Pathogenic | D | - | A | 0 | 0 | 0 | TTN: p.H29228Y | |
| NGS068 | Nonsense | p.Q23503X | 276 | I119 Ig | c.C70507T | - | Pathogenic | D | - | A | 0 | 0 | 0 | - |
A, Disease_causing_automatic; D,Deleterious/Disease_causing; FN3, fibronectin type III; Ig, immunoglobulin.