TABLE 2.
DCM Type | Gene | Transcript | cDNA | Protein | Cygosity |
ID dbSNP |
ACMG Class |
---|---|---|---|---|---|---|---|
I | TTN | NM_001267550.2 | c.51285_51286insTA | p.P17096Yfs*13 | Ht | P | |
F | TTN | NM_001267550.2 | c.C52903T | p.R17635X | Ht | P | |
F | TTN | NM_001267550.2 | c.53391delA | p.G17798Afs*17 | Ht | P | |
I | TTN | NM_001267550.2 | c.58571_58574del | p.K19524Tfs*5 | Ht | P | |
F | TTN | NM_001267550.2 | c.C60733T | p.R20245X | Ht | P | |
I | TTN | NM_001267550.2 | c.62312_62316del | p.L20771Pfs*15 | Ht | P | |
I | TTN | NM_001267550.2 | c.66524dupT | p.S22176Ifs*7 | Ht | P | |
I | TTN | NM_001267550.2 | c.T71421A | p.Y23807X | Ht | P | |
F | TTN | NM_001267550.2 | c.80691dupA | p.G26822Rfs*2 | Ht | P | |
I | TTN | NM_001267550.2 | c.C100825T | p.R33609X | Ht | rs1057518195 | P |
I | DSP | NM_004415.4 | c.A1333T | p.I445F | Ht | rs934142779 | LP |
F | DSP | NM_004415.4 | c.2179dupA | p.D728Rfs*9 | Comp Ht | P | |
DSP | NM_004415.4 | c.T6902C | p.I2301T | Comp Ht | rs772381363 | LP | |
F | DSP | NM_004415.4 | c.C6496T | p.R2166X | Ht | rs141026028 | P |
I | DSP | NM_004415.4 | c.8495_8496insATCTC | p.R2834Hfs*50 | Homo | LP | |
I | MYH7 | NM_000257.4 | c.T1174A | p.S392T | Ht | rs1555338377 | LP |
F | MYH7 | NM_000257.4 | c.C2058A | p.N686K | Ht | LP | |
F | MHY7 | NM_000257.4 | c.2896_2898del | p.K966del | Ht | LP | |
F | MYH7 | NM_000257.4 | c.C2710T | p.R904C | Ht | rs727503253 | LP |
F | MYH7 | NM_000257.4 | c.G3149A | p.R1050Q | Ht | LP | |
F | LMNA | NM_001282625.2 | c.C391T | p.Q131X | Ht | P | |
F | LMNA | NM_001282625.2 | c.C1292A | p.S431X | Ht | P | |
I | RBM20 | NM_001134363.3 | c.C1913T | p.P638L | Ht | rs267607003 | P |
I | ABCC9 | NM_005691.3 | c.4517_4527del | p.R1506fs | Ht | rs1272651352 | P |
I | FKTN | NM_001198963 | c.G1270A | p.G424S | Homo | rs752358445 | P |
F | ACTA1 | NM_001100.4 | c.G472A | p.G158S | Ht | LP | |
F | TNNT2 | NM_001276345.2 | c.C451T | p.R151W | Ht | rs74315379 | P |