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Table 2 Mutations identified via next generation sequencing

From: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Family Chr Position Gene Exon/(Intron) Transcript c. DNA change Amino acid change Alleles in ExAC
3a,WES 3:42728042 KLHL40 1 NM_152393 c.932G>T p.Arg311Leu Not found
3:42730455 4 c.1516A>C p.Thr506Pro A:7/C:121308
4a,WES 3:42730521 KLHL40 4   c.1582G>A p.Glu528Lys G:8/A:120018
3:42730521 4 c.1582G>A p.Glu528Lys G:8/A:120018
16WES 3:42727156 KLHL40 1   c.46C>T p.Gln16* Not found
3:42727156 1 c.46C>T p.Gln16* Not found
20NSES 3:42728041 KLHL40 1   c.931C>A p.Arg311Ser C:6/A:121368
3:42728041 1 c.931C>A p.Arg311Ser C:6/A:121368
5a,WES 2:170382132_9 KLHL41 6 NM_006063 c.1748_1755del8 p.Lys583Thrfs *7 Not found
2:170382132_9 6 c.1748_1755del8 p.Lys583Thrfs *7 Not found
12a,WES 2:220331929_30 SPEG 12 NM_005876 c.2915_2916del2insA p.Ala972Aspfs *79 Not found
2:220331929_30 37 c.8270G>T p.Gly2757Val Not found
38a,WES, NSES 6:142729324 GPR126 16 NM_198569 c.2306T>A p.Val769Glu Not found
6:142729324 16 c.2306T>A p.Val769Glu Not found
14NSES 23:149809808 MTM1 8 NM_000252 c.595C>T p.Pro199Ser Not found
6WES 19:38951109 RYR1 20 NM_000540 c.2455C>T p.Arg819* C:1/T:121396
19:38980890 36 c.5989G>A p.Glu1997Lys Not found
8WES 19:38987106 RYR1 41   c.6721C>T p. Arg2241* C:20/T:120468
19:39071143 101 c.14645C>T p.Thr4882Met C:2/T:121280
13NSES 19:38946103 RYR1 15   c.1589G>A p.Arg530His G:8/A:121410
19:39071143 101 c.14645C>T p.Thr4882Met C:2/T:121280
9WES 2:152539199 NEB 29 NM_001164508 c.2920C>T p.Arg974* Not found
2:152539199 29 c.2920C>T p.Arg974* Not found
2a,WES 3:81698005 GBE1 (5) NM_000158 c.691+2T>C ? T:113/C:98680
3:81691968 7 c.956A>G p.His319Arg Not found
10WES 2:233394798 CHRND 7 NM_000751 c.769T>C p.Cys257Arg Not found
2:233398996 11 c.1315delG p.Val439Trpfs *11 Not found
15NSES 2:233406191_2 CHRNG 5 NM_005199 c.459dupA p.Val154Serfs *24 CA:32/C:121406
2:233406191_2 5 c.459dupA p.Val154Serfs *24 CA:32/C:121406
1WES 17:10544634 MYH3 18 NM_002470 c.2015G>A p.Arg672His Not found
11NSES 17:10549042 MYH3 12   c.1123G>A p.Glu375Lys Not found
7a,WES 2:233347865 ECEL1 9 NM_004826 c.1531G>A p.Gly511Ser Not found
2:233346560 (12) c.1797-1G>A ? Not found
  1. aDenotes families published previously. Type of next-generation sequencing performed for each family is also noted in this table