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. 2020 Sep 24;8(11):e1504. doi: 10.1002/mgg3.1504

TABLE 2.

Pathogenic/likely pathogenic variants found in Mexican DCM patients

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