Table 1 Putative causative mutations and genes with potentially phenotype-influencing variants identified by WES in 73 LGMD patients

20

ANO5

p.D81G/p.R758C

NEB, DES, TTN

10

ANO5

p.D81G/p.W401X*

BAG3, FLNC, CHRNE, CACNA1S, TTN x2

173a

CAPN3

c.1193+1G>A (splice site)/c.598-612delGTTCTGGAGTGCTCT

NEB x2, DNM2, TTN x2, CACNA1S

424

CAPN3

c.598-612delGTTCTGGAGTGCTCT/p.G221S*

COL12A1, PLEC, DNM2TTN

186a

CAPN3

c.550delA/p.A609E

LDB3/ZASP x2, COL6A2, COL6A3, SGCD, POMT1, DYSF, SYNE2, MYH6, B3GALNT2

175d

CAPN3

c.550delA/c.598-612delGTTCTGGAGTGCTCT

MYOT, SGCB, RYR1, NEB, SYNE2, TTN

12

CAPN3

c.550delA/c.550delA

COL6A3, FLNC, NEB,TTN x2

144

CAPN3

c.550delA/c.550delA

DNM2, TMEM5, TTN x2

212

CAPN3

c.550delA/c.550delA

DYSF, TTN x6

127

CAPN3

c.550delA/c.550delA

RYR1, FLNC, SYNE2, TTN x4

184a

CAPN3

c.550delA/c.550delA

HSPG2, TTN

6

CAPN3

c.550delA/c.550delA

TRAPPC11, RYR1, LAMA2, FLNC, NEB, PPARGC, TTN, MYF6

764

CAPN3

c.550delA/c.1722delC

LDB3/ZASP x2, POMT1, TMEM43

18

CAPN3

MYH7

c.550delA/p.E566K

p.R204H

LDB3/ZASP x2, GBE1, TTN x4,

TO

CAPN3

c.550delA/p.G221S*

TRAPPC11, LIPE, GBE1, HSPG2, TTN x3

8

CAPN3

c.550delA/p.P82L

NEB x2, COL6A3, SYNE1 x2, TTN x5, LDB3/ZASP, HSPG2

13

CAPN3

c.550delA/p.R147X

COL12A1, NEB

4

CAPN3

c.550delA/p.R355W

FLNC, SYNE1, DCTN1, TTN x3

433

CAPN3

c.550delA/p.R448C

COL6A3, TARDBP, TTN x2

668

CAPN3

c.550delA/p.T560A

PLEC x 3, SYNE1 x2, CCDC78, COL9A3, HSPG2

193a

CAPN3

c.550delA/p.W130R*

COL6A3, NEB, HSPG2, TTN x2, GNE

113

CAPN3

p.R748X/c.1722delC

COL6A3, RYR1, HSPG2, SYNE1 x2, DCTN1, TTN x2

144a

CAPN3

p.R748X/c.598-612delGTTCTGGAGTGCTCT

COL6A1, COL6A3, HNRNPDL, RYR1 x2, SYNE1, MYH7, TTN x5

225

CAPN3

p.P102L/p.S606L

MYH3, SYNE1, SYNE2, TTN

196

COL6A2

p.G277E*

CAV3, LAMA2, ANO5 – ITGA7, RYR1, SYNE2, TTN x3

901

COL6A3

CACNA1S

p.E1386K/p.R2420W

p.T349I*

NEB, TTN

7

COL6A3

p.R2142X*/p.K2483E

FLNC

275

COL6A3

p.T1368M/p.V2398I

DAG1, NEB, SYNE1, TTN

135

DMD

c.678-681delCTT*

RYR1, ITGA7, DYSF, CCDC78, COL9A3

275B

DNAJB6

p.G77E

COL6A2, DAG1, DYSF, ISPD, NEB, RYR1, SYNE1, CHRNE, TTN x3

192

DYSF

c.4821delG*/c.5058-1G>T* (splice site)

LDB3/ZASP, ANO5, PLEC, SYNE1, TTN

16

DYSF

p.D1876N/p.D1876N / c.5179delA*/c.5179delA*

FLNC, DMD, MYH6, COL9A3, NIPA1, HSPG2, TTN x2

219

DYSF

p.D1876N/p.E1763D/c.5179del*A

PLEC x2, LDB3/ZASP x2, COL6A2, FKRP, COL12A1, TTN x3

24 (family A)

DYSF

p.Q1323E/c.5237delG*

COL6A3, MYH3, LDB3/ZASP

3 (family A)

DYSF

p.Q1323E/c.5237delG*

PLEC, COL6A3

407

DYSF

MYH7

p.V374L/c.5946G>A (splice site)

p.A1487T

ANO5, NEB

15

FKRP

p.L276I/c.253+2T>C (splice site)

PLEC x2, LARGE, KBTBD13, DCTN1, MYPN, TTN x2

198

FKRP

p.L276I/c.650-667del CGCCCGCTATGTGGTGGG*

COL6A3, COL4A1, NEB x2, TTN

KW

FKRP

p.L276I/p.L276I

ISPD, DYSF, ITGA7, SYNE1, TTN x2

5

FKRP

p.L276I/p.L276I

PLEC x2, COL6A3 x2, DYSF, POMGNT2, FLNC, TTN x3

102

FKRP

p.L276I/p.L276I

COL12A1, MYH2, SYNE2, TTN

84e

FKRP

p.L276I/p.P217Q*

TCAP, COL6A2, TTN x2

CM

FKRP

p.L93P/p.R270C

CAPN3, DMD, NEB, SYNE1 x2, CCDC78, TTN x4

19

LMNA

p.G523R

CAPN3, COL6A3, PLEC x3, RYR1, HSPG2, SYNE1, MYH3, LMOD3, RBM20, TNNI3K

21

SGCA

p.V247M/p.V250L* (splice site)

COL6A1, COL6A2, MYH2, LDB3/ZASP, POMT1

84a

SGCA

p.V250L* (splice site) / p.R284C

LDB3/ZASP x2, RYR1, COL6A2, COL6A3, SYNE1

157

SGCB

p.S114F/p.I119N*

PLEC x2, TRAPPC11, HSPG2 x2, TTN

201

SGCB

p.S114F/p.S114F

PLEC x2, TRAPPC11, B3GALNT2, HSPG2, SYNE1

270a

TCAP

c.358-359delGA*/c.358-359delGA*

NEB X3, SYNE1, BVES, TTN x2

229a

TRAPPC11

p.D26G*/p.D26G*

NEB, ITGA7, POMGNT1

448a

CAPN3, TTN (likely pathogenic fs),

179

CAPN3, COL6A2, DNM2, -BVES, TTN x4

214

CAPN3, COL6A3, POMT2, COL12A1, TTN x2

191

CAPN3, FKRP, TTN x3

658

CAPN3,, MYPN, TARDBP, TTN x2

752

CAPN3, POMT2, FLNC x5, NEB, HSPG2, SYNE2, TTN

170

CAPN3, SGCA, RYR1, CACNA1S, LDB3/ZASP,

250a

CAPN3, SGCD, HSPG2, TTN

130a

CAPN3, PLEC x2, SYNE1 x2, SYNE2, CACNA1S, TTN

160a

CAPN3, BAG3, DES, NEB x2, TTN x2, CACNA1S

128a

RYR1 x2, COL6A3

243

BVES x2, SYNE1, TTN, HSPG2, HACD1

592

BAG3, TMEM43, TTN x3, HSPG2

197

COL6A3, ANO5, NEB, COL12A1, MYH3, SYNE1, TTN x2, SCN4A, LMNB2

17

DMD, PLEC x2, LAMA2, ITGA7, MYH6, SYNE2, CACNA1S, NEB

195

DNM2, TRIM32, POMGNT1, FLNC, NEB,

14

FLNC x2, TTN x2

1038

DYSF, PLEC, SYNE1, SYNE2, TTN x2

9

RYR1 x2, NEB, MYH7, FLNC, TTNx2

155

RYR1, ISPD, POMGNT2, COL6A2 DYSF, NEB, MYH3, TTN x3

11

TRAPPC11, NEB, HSPG2

194

HSPG2, TTN

859

CACNA1S