Table 1.
List of pathogenic variants
Sample ID | Sex | Clinical diagnosis | Inheritance | Histopathologic features | Variant(s) | |||||
---|---|---|---|---|---|---|---|---|---|---|
Single1 | M | CM | Sp | c.n. | DNM2 | chr19:10934538* | c.1856 C>G | p.S619W | het | c.n.sr1 |
Single3 | M | LGMD | Sp | m.f. | CAPN3 | chr15:42695076* | c.1621 C>T | p.R541W | het | LGMDsr2 |
CAPN3 | chr15:42682142* | c.802-9G>A | spl. | het | LGMDsr3 | |||||
Single6 | M | LGMD | Rec | m.f. | FKRP | chr19:47259458 | c.751G>T | p.A251S | het | |
FKRP | chr19:47259758 | c.G1051C | p.A351P | het | ||||||
Single8 | M | LGMD | Sp | n.a. | DYSF | chr2:71838708 | c.4119 C>A | p.N1373K | het | |
DYSF | chr2:71762413 | c.1369G>A | p.E457K | het | ||||||
Single15 | F | LGMD/CM | Sp | d.f. | SYNE2 | chr14:64688329 | c.663G>A | p.W221X | het | |
Single16 | M | LGMD/DCM | Sp | d.f. | SGCG | chr13:23869573* | c.525 delT | p.F175L fsX20 | hom | LGMDsr4 |
LDB3 | chr10:88446830* | c.349G>A | p.D117N | het | DCMsr5 | |||||
Single19 | M | LGMD | Sp | m.f. | RYR1 | chr19:39062797* | c.13885G>A | p.V4629M | het | CMsr6 |
Single20 | M | LGMD/DCM | Rec | c.n. | RYR1 | chr19:39009932* | c.10097G>A | p.R3366H | het | Multiminicoresr7 |
RYR1 | chr19:38973933* | c.4711 A>G | p.I1571V | het | MHsr8 | |||||
RYR1 | chr19:39034191* | c.11798A>G | p.Y3933C | het | MHsr9 | |||||
RYR1 | chr19:38942453 | c.G1172C | p.R391P | het | ||||||
DES | chr2:220284876* | c.638 C>T | p.A213V | het | DCM10 | |||||
1/17s | F | CM | Sp | c.n. | TTN | chr2:179452695* | c.63439G>A | p.A21157T | het | ARVDsr11 |
TTN | chr2:179496025 | c.G43750T | p.G14584X | het | ||||||
TTN | chr2:179392277* | c.107576T>C | p.M35859T | het | ARVDsr11 | |||||
1/21s | M | LGMD | n.a. | n.a. | SGCA | chr17:48246607* | c.739G>A | p.247V>M | het | LGMDsr12 |
SGCA | chr17:48245758* | c.409G>A | p.E137K | het | LGMDsr13 | |||||
2/17s | F | CM | Sp | cftdm | MYH7 | chr14:23886406 | c.T4475C | p.L1492P | het | |
2/20s | M | LGMD | n.a. | n.a. | POMT2 | chr14:77745129* | c.1975 C>T | p.659 R>W | het | CMDsr14 |
POMT2 | chr14:77769283* | c.551 C>T | p.T184M | het | LGMDsr15 | |||||
3/20s | F | LGMD | Sp | cftdm | TPM2 | chr9:35689792* | c.20_22delAGA | p.7Kdel | het | CMsr16 |
4/17s | M | LGMD | Rec | c.n. | ANO5 | chr11:22242646* | ANO5:c.191dupA | p.64N>Kfs*15 | hom | LGMDsr17 |
4/18s | M | LGMD | Sp | vacuoles | DNAJB6 | chr7:157175006 | c.413G>A | p.G138E | het | |
5/17s | M | LGMD/DCM | Sp | m.f. | MYOT | chr5:137213267 | c.591delTG | p.199F>S fsX3 | het | |
5/21s | M | LGMD | Sp | c.n. | CAV3 | chr3:8787288* | c.191C>G | p.T64S | het | HCMsr18 |
6/20s | M | LGMD | Sp | d.f. | ACADVL | chr17:7127330* | c.G1376A | p.R459Q | het | VLCADsr19 |
ACADVL | chr17:7128130 | c.C754T | p.A585V | het | ||||||
7/17s | M | LGMD | Sp | m.f. | CAPN3 | chr15:42702843* | c.2242 C>T | p.R748X | het | LGMDsr20 |
CAPN3 | chr15:42693952* | c.1468 C>T | p.R490W | het | LGMDsr21 | |||||
7/20s | F | LGMD | Sp | d.f. | LMNA | chr1:156100408* | c.357 C>T | p.R119R (spl.) | het | EDMDsr22 |
8/19s | M | LGMD | n.a. | d.f. | DNAJB6 | chr7:157155959 | c.C170T | p.S57L | het | |
10/17s | F | CM | Sp | m.f. | MYH7 | chr14:23886518 | c.G4363T | p.E1455X | het | |
10/21s | M | LGMD/FSHD | Dom | d.f. | SMCHD1 | chr18:2700849* | c.C1580T | p.T527M | het | FSHDsr23 |
11/18s | M | CM | Sp | nemaline | NEB | chr2:152447860 | c.6915+2T>C | spl. | het | |
NEB | chr2:152553662 | c.C1470T | p.D490D (spl.?) | het | ||||||
12/18s | F | CM | Sp | cftdm | MYH7 | chr14:23882063 | c.G5808C | p.X1936Y | het | |
12/21s | F | LGMD | Sp | d.f. | PYGM | chr11:64519958 | c.A1537G | p.I513V | het | |
PYGM | chr11:64514809* | c.C2199G | p.Y733X | het | McArdlesr24 | |||||
13/20s | M | LGMD | Rec | n.a. | LAMA2 | chr6:129722399* | c.C5476T | p.R1826X | het | LGMDsr25 |
LAMA2 | chr6:129571264 | c.1791_1793del AGT | p.598 del V | het | ||||||
13/21s | M | LGMD | Sp | d.f. | SGCG | chr13:23898652* | c.848G>A | p.C283Y | hom | LGMDsr26 |
14/20s | F | LGMD | n.a. | n.a. | CAPN3 | chr15:42686485* | c.1061T>G | p.V354G | het | LGMDsr21 |
CAPN3 | chr15:42689077 | c.1193+2T>C | spl. | het | ||||||
14/18s | M | LGMD | n.a. | d.f. | DMD | chrX:32360366* | c.G5773T | p.E1925X | hem | Duchennesr27 |
15/19s | M | CM | Sp | multiminicores | MYH7 | chr14:23885313* | c.4850_4852del | p.1617 del K | het | Distalsr28 |
16/18s | M | LGMD | Sp | no alterations | CAPN3 | chr15:42691746* | c.1250 C>T | p.T417M | hom | LGMDsr29 |
16/20s | M | CM | Sp | cftdm | TTN | chr2:179431175 | c.C79684T | p.R26562X | het | |
TTN | chr2:179526510 | c.A39019T | p.K13007X | het | ||||||
16/21s | F | CM | Dom | n.a. | TPM2 | chr9:35685541* | c.A382G | p.K128E | het | CFTDsr30 |
23/38s | M | CM | Sp | cftdm | RYR1 | chr19:38959672 | c.3449delG | p.C1150fs | het | |
RYR1 | chr19:38985186 | c.6469G>A | p.E2157K | het | ||||||
RYR1 | chr19:39003108* | c.9457G>A | p.G3153R | het | MHsr31 | |||||
23/41s | M | CM | Sp | m.f. | RYR1 | chr19:38990637* | c.G7304T | p.R2435L | hom | CCDsr32 |
24/42s | F | CM | n.a. | n.a. | ACTA1 | chr1:229567867* | c.G682C | p.E228Q | het | Nemalinesr33 |
25/38s | M | CM | Sp | cftdm | CRYAB | chr11:111779520 | c.A496T | p.K166X | het | |
25/39s | F | CM | Dom | c.n. | RYR1 | chr19:39075614* | c.14678G>A | p.R4893Q | het | CCDsr34 |
25/41s | F | CM | n.a. | n.a. | MYH7 | chr14:23886750 | c.G4315C | p.A1439P | het | |
28/39s | F | CM | Dom | minicore | MYH7 | chr14:23885313* | c.4850_4852del | p.1617del K | het | Distalsr28 |
28/41s | M | CM | Sp | c.n. | MTM1 | chrX:149831996* | c.C1558T | p.R520X | hem | Myotubularsr35 |
29/41s | F | CM | Rec | n.a. | NEB | chr2:152387617 | c.21628-2A>T | spl. | het | |
NEB | chr2:152541300 | c.C2827T | p.Q943X | het | ||||||
30/42s | F | CM | Rec | cftdm | RYR1 | chr19:38948185* | c.C1840T | p.R614C | het | MHsr36 |
RYR1 | chr19:38959747 | c.G3523A | p.E1175K | het | ||||||
31/42s | F | CM | Rec | nemaline | NEB | chr2:152471093 | c.11298_11300delTAC | p.Y3766del | hom | |
32/41s | M | CM | Dom | c.n. | MTM1 | chrX:149826390 | c.1150 C>T | p.Q384X | het | |
32/42s | F | CM | Dom | minicore | DNM2 | chr19:10939917 | c.C2252A | p.T751N | het | |
33/41s | M | CM | Rec | nemaline | NEB | chr2:152370944 | c.23122-2A>G | spl. | het | |
NEB | chr2:152544037 | c.A2533G | p.K845E | het | ||||||
36/42s | M | CM | Dom | n.a. | RYR1 | chr19:39075629* | c.T14693C | p.I4898T | het | CCDsr37 |
37/39s | M | LGMD | Sp | d.f. | DMD | chrX:32841417* | c.T328C | p.W110R | hem | Beckersr38 |
37/40s | F | LGMD | Sp | n.a. | SYNE2 | chr14:64676751* | c.C18632T | p.T6211M | het | EDMDsr39 |
37/41s | F | CM | Dom | m.f. | MTM1 | chrX:149826390 | c.1150 C>T | p.Q384X | het |
*Already reported. For references, see Additional file 10.