Table 5.
The variant distribution in the familial members
| Gene | Amino acid Change | I:2 | II:3 | II:4 | II:5 | III:1 | III:2 | III:3 | III:4 | III:5 | III:6 | III:7 | III:8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LMNA | NM_001282626:exon4:c.C725T:p.A242V | −/− | −/− | −/− | −/+ | −/+ | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| ACTA1 | NM_001100:exon3:c.G447T:p.R149S | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| RYR2 | NM_001035:exon22:c.C2573T:p.T858M | −/+ | −/− | −/+ | −/+ | −/− | −/− | −/− | −/− | −/− | −/+ | −/+ | −/− |
| MYL2 | NM_000432:exon2:c.G32A:p.G11E | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| MYH7 | NM_000257:exon3:c.T193C:p.Y65H | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TPM1 | NM_000366:exon2:c.G155C:p.G52A | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon165:c.T64379C:p.I21460T | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.T56866A:p.S18956T | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.A48472G:p.T16158A | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.G48439A:p.V16147I | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.G48383A:p.R16128K | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.C48028A:p.H16010N | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.T48000G:p.H16000Q | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.A47986G:p.I15996V | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.G47660A:p.S15887N | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.G47621A:p.R15874K | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.A47602G:p.I15868V | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.C43856A:p.T14619N | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon154:c.A42949G:p.N14317D | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon150:c.C41143A:p.L13715I | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon132:c.A34883C:p.D11628A | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon132:c.G34882A:p.D11628N | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon108:c.G26714C:p.S8905T | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon108:c.A26713G:p.S8905G | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_133378:exon59:c.A14417G:p.K4806R | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_133378:exon55:c.T13338G:p.H4446Q | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_133378:exon51:c.A12193T:p.I4065L | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon46:c.C13036G:p.L4346V | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon46:c.A13025G:p.K4342R | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon43:c.C10100T:p.T3367I | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| TTN | NM_003319:exon23:c.G4024A:p.G1342R | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| MYOZ2 | NM_016599:exon3:c.C226G:p.Q76E | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| MYOZ2 | NM_016599:exon3:c.G233A:p.R78K | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| PDLIM3 | NM_014476:exon5:c.G466C:p.V156L | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| PDLIM3 | NM_014476:exon5:c.T427G:p.C143G | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
| LAMA4 | NM_001105206:exon6:c.G673C:p.A225P | −/+ | −/+ | −/+ | −/+ | −/− | −/− | −/− | −/− | −/+ | −/+ | −/− | −/+ |
| KIAA0196 | NM_014846:exon21:c.A2555G:p.H852R | −/− | −/+ | −/− | −/+ | −/− | −/− | −/+ | −/+ | −/− | −/− | −/− | −/+ |
Bold indicates the variants positively carried by the family members, varified by the Sanger sequencing
−/−, not carried. −/+, heterozygously carried