Table - Details of the variations observed in DYSF gene (NM_001130987.2) in our sample set.

Patien t Variant (Protein change) Variant Position on the Know n

ID type protein
Genomic coordinates Location Zygosity

c.206T>G 1st C2 domain

P1 chr2:71709067T>G (p.Val69Gly) E-3 Hom MS No

c.268C>T 1st C2 domain Yes

P2, P3 chr2:71730372C>T (p.Arg90Ter) E-4 Hom NS

P4 chr2:71730450delG c.345+1delG (5’ Splice I-4 Het SS - No

site)
chr2:71762443dupT c.1493+2dupT (5’ Splice I-16 Het SS 3rd C2 domain Yes
site)
P5 chr2:71738968C>T c.377C>T E-5 Het MS - No
(p.Pro126Leu)
chr2:71909807delG c.6321delG E-55 Het FS Ferlin C No
(p.Asn2108ThrfsTer5) domain
P6, P7 chr2:71739052G>A c.460+1G>A I-5 Hom SS - Yes
(5' splice site)
P8 chr2:71739052G>T c.460+1G>T I-5 Hom SS - No
(5' splice site)
chr2:71740391_71740 c.482_483delAG
P9 392delAG (p.Glu161AspfsTer7) E-6 Hom FS - No

c.759G>C 2nd C2 domain

P10 chr2:71741051G>C (p.Gln253His) E-7 Hom MS Yes

c.888G>T 2nd C2 domain

P11 chr2:71742881G>T (p.Glu296Asp) E-8 Hom MS No

c.888+1G>A 2nd C2 domain

chr2:71742882G>A (5' spice site) I-8 Hom SS Yes
P12
chr2:71781055C>G c.2103C>G E-21 Hom MS - Yes
(p.Asp701Glu)

chr2:71743313_71743 c.892_893delCT 2nd C2 domain

P13 314delCT (p.Leu298PhefsTer6) E-9 Hom FS Yes

c.991G>T 2nd C2 domain

chr2:71744158G>T (p.Gly331Trp) E-10 Het MS Yes

P14
c.2217-1G>T FerA domain
chr2:71788881G>T (3’ Splice site) I-22 Het SS Yes

P15- c.1033+2T>C 2nd C2 domain

P17 chr2:71747340T>C (5’ splice site) I-11 Hom SS Yes

1033+1G>A
chr2:71747339G>A (5’ splice site) I-11 Het SS - Yes
P18
c.5209C>T
chr2:71892326C>T (p.Pro1737Ser) E-47 Het MS - No

P19- chr2:71748001C>A c.1116C>A E-12 Hom MS FerI domain Yes

P20 (p.Ser372Arg)

P21*- c.1116C>A FerI domain

P22* chr2:71748001C>A (p.Ser372Arg) E-12 Hom MS Yes

chr2:71753368delT c.1168delT E-13 Het FS FerI domain No

(p.Ser390LeufsTer17)
P23 c.1577-1692G>A.£ 3nd C2 domain Yes
chr2:71776479G>A (3' splice site) I-16 Het SS
 chr2:71753409delC c.1209delC E-13 Het FS FerI domain No
(p.Thr404GlnfsTer3)
P24 c.3191G>A
chr2:71797834G>A (p.Arg1064His) E-29 Het MS - Yes

c.1258delG
P25- 28 chr2:71753456delG E-13 Hom FS 3nd C2 domain Yes
(p.Ala420ProfsTer11)

chr2:71755426A>T c.1277-2A>T I-13 Het SS 3nd C2 domain No

(3’ Splice site)
P29 chr2:71906217_71906 c.5920_5928delCCAGC CAAG 7th C2 domain
225delCCAAGCCAG (p.Pro1974_Lys1976del) E-53 Het IF No

P30 chr2:71762443T>G c.1493+2T>G I-16 Het SS 3nd C2 domain No

(5’ Splice site)
chr2:71795338delT c.2734delT E-26 Het FS - No
(p.Trp912GlyfsTer54)
P31- chr2:71766292G>A c.1499G>A E-17 Hom MS 3nd C2 domain No
P33 (p.Arg500His)
c.5194C>T
chr2:71892311C>T (p.Arg1732Trp) E-47 Hom MS - Yes

P34- c.1692+1G>A
P39 chr2:71778287G>A (5’ Splice site) I-18 Hom SS - No
P38
c.1696dupG
P40 chr2:71778740dupG (p.Glu566GlyfsTer22) E-19 Hom FS - Yes

P41- c.1717C>T
P45 chr2:71778761C>T (p.Arg573Trp) E-19 Hom MS - Yes

P46 chr2:71780936G>A c.1985-1G>A I-20 Hom SS - No

(3’ Splice site)

P47 chr2:71783146G>T c.2161G>T E-22 Hom NS FerA domain No

(p.Glu721Ter)

P48 - c.2266C>T FerA domain

P50 chr2:71788931C>T (p.Gln756Ter) E-23 Hom NS No

chr2:71791220_71791 c.2442_2448del GATGCTG FerB domain

226delGATGCTG (p.Trp814CysfsTer39)
P51 E-24 Hom FS No

c.2548C>T FerB domain

P52 chr2:71791326C>T (p.Gln850Ter) E-24 Hom NS Yes

P53 c.2697+1G>A
chr2:71795213G>A (5’ splice site) Intron 25 Hom SS - Yes

P54 c.2697+5G>A
chr2:71795217G>A (5’ splice site) Intron 25 Hom SS - No

P55 chr2:71795418dupC c.2814dupC E-26 Hom FS - No

(p.Ser939LeufsTer21)

P56 chr2:71797019_71797 c.2934_2935ins CCCGGAGG E-27 Hom FS - No

020insCCCGGAGG (p.Gln982ProfsTer8)
P57- chr2:71797738A>G c.3095A>G E-29 Hom MS - Yes
P61 (p.Tyr1032Cys)

P62, c.3166C>T
P63 chr2:71797809C>T (p.Arg1056Ter) E-29 Hom NS - Yes

chr2:71797810G>A c.3167G>A E-29 Het NS - Yes

(p.Arg1056Glu)
c.5830C>T 7th C2 domain
P64 (p.Arg1944Ter)
chr2:71901372C>T E-52 Het NS Yes

P65 chr2:71797810G>A c.3167G>A E-29 Hom NS - Yes

(p.Arg1056Glu)
c.3169C>T
chr2:71797812C>T (p.Arg1057Trp) E-29 Het MS - Yes
P66
c.3191G>A
chr2:71797834G>A (p.Arg1064His) E-29 Het MS - Yes

P67- chr2:71797834G>A c.3191G>A E-29 Hom MS - Yes

P79 (p.Arg1064His)

P80 chr2:71825791C>G c.3672C>G E-33 Hom NS 4th C2 domain Yes

(p.Tyr1224Ter)
P81, chr2:71827934_71827 c.3859insG E-34 Hom FS - Yes
P82 935insG (p.Glu1287GlyfsTer7)
chr2:71838408dupC c.3991dupC E-37 Het FS - No
(p.Gln1331ProfsTer69)
P83
chr2:71883304C>T c.4639C>T E-43 Het NS - No
(p.Gln1547Ter)
P84 chr2:71838645_71838 c.4110_4112delCTC E-38 Hom IF 5th C2 domain Yes
647delCTC (p.Ser1372del)
chr2:71871123A>C c.4556A>C E-42 Hom MS - Yes
(p.Lys1519Thr)
chr2:71838649_71838 c.4114_4116delTCC E-38 Hom IF 5th C2 domain Yes
651delTCC (p.Ser1372del)
c.4556A>C
(p.Lys1519Thr)
P85
chr2:71871123A>C E-42 Hom MS - Yes

P86 chr2:71839797_71839 c.4248delC E-39 Hom FS 5th C2 domain No

797delC (p.Ile1419SerfsTer47)
P87 chr2:71839803dupC c.4254dupC E-39 Hom FS 5th C2 domain Yes
(p.Ile1419HisfsTer8)
P88 chr2:71839938T>A c.4387+2T>A I-39 Hom SS - Yes
(5' splice site)
chr2:71840541G>T c.4464+1G>T I-40 Het SS - No
(5' splice site)
P89 c.5505dupG
chr2:71895931dupG (p.Pro1836AlafsTer31) E-49 Het FS - No

P90 chr2:71871117G>A c.4550G>A E-42 Hom NS - Yes

(p.Trp1517Ter)
chr2:71871143G>T c.4576G>T E-42 Het NS - Yes
(p.Glu1526Ter)
P91
P91 c.5830C>T 7th C2 domain
chr2:71901372C>T (p.Arg1944Ter) E-52 Het NS Yes

P92 chr2:71871143G>T c.4576G>T E-42 Hom NS -- Yes

(p.Glu1526Ter)
P93 chr2:71886125C>T c.4873C>T E-44 Hom NS 6th C2 domain Yes
(p.Arg1625Ter)
P94 chr2:71887688A>G c.4912-2A>G I-44 Hom SS 6th C2 domain No
(3’ Splice site)
P95 chr2:71891546G>A c.5152G>A E-46 Hom MS - No
(p.Gly1718Arg)
P96 chr2:71891573G>A c.5174+5G>A I-46 Hom SS - Yes
(5' splice site)
P97, chr2:71892310G>A c.5193G>A E-47 Hom NS - No
P98 (p.Trp1731Ter)
P99- c.5194C>T
P102 chr2:71892311C>T (p.Arg1732Trp) E-47 Hom MS - Yes

P103 chr2:71892339T>C c.5222T>C E-47 Hom MS - Yes

(p.Leu1741Pro)
P104 chr2:71894592G>A c.5404G>A E-48 Hom MS - Yes
(p.Glu1802Lys)

P105 chr2:71895883G>A c.5458-1G>A I-48 Hom SS - Yes

(3' splice site)
c.5458-2A>C
P106 chr2:71895882A>C (3' splice site) I-48 Hom SS - Yes

P107 chr2:71895884_71896 c.5458_5784+1del (Exonic E-49-51 Hom Del - No

877del deletion)
P108 chr2:71895970_71895 c.5544_5546delAAG E-49 Hom IF - No
972delAAG (p.Arg1849del)
P109, chr2:71900503C>T c.5785-824C>T I-51 Hom FS 7th C2 domain Yes
P110 p.Asp1890GlyfsTer47
P111, c.5785-7G>A 7th C2 domain
P112 chr2:71901320G>A (3'splice site) I-51 Hom SS Yes

P113 chr2:71901327_71908 c.5785_6064-1del (Exonic E-52-53 Hom Del - No

130del deletion)

P114, chr2:71901372C>T c.5830C>T E-52 Hom NS 7th C2 domain Yes

P115 (p.Arg1944Ter)

P116 chr2:71906279G>T c.5977G>T E-53 Hom NS - No

(p.Glu1993Ter)
P117- chr2:71908130G>C c.6064-1G>C I-53 Hom SS Ferlin C Yes
P121 (3' splice site) domain
P122, chr2:71908198G>T c.6131G>T E-54 Hom MS Ferlin C No
P123 (p.Gly2044Val) domain

chr2:71908234_71908 c.6167delA Ferlin C

P124 234delA (p.Asp2056AlafsTer19) E-54 Hom FS domain No
 Pathogenicity
Clinvar (ACMG)
HGMD ID
Interpr- Variation ID Phenotype
etation

NR NR NR NR Likely pathogenic

RCV001040341/ DYSFY/ LGMD2B

Pathogenic RCV000178195 CM034954 Pathogenic

NR NR NR NR Pathogenic

VUS RCV000656701 LGMD2B NR VUS

NR NR NR NR Likely pathogenic

NR NR NR NR Pathogenic

Likely RCV000694014/ DYSFY/ LGMD2B CI090613 Pathogenic

pathogenic RCV000665139
NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

Likely
pathogenic RCV000812750 DYSFY NR Pathogenic

NR NR NR NR Pathogenic

Likely RCV000597496/ LGMD2B/ NP

pathogenic RCV000726446 NR Pathogenic

VUS RCV000356788 NP NR VUS

LGMD2B
Pathogenic RCV000670937 CD080821 Pathogenic

RCV000007069/ MMD1/ NP
Pathogenic RCV000594920 CM081230 Likely pathogenic

RCV001172377/ LGMD2B/ NP
Pathogenic RCV000382100 CS105933 Pathogenic

Pathogenic RCV000264216 NP NR Pathogenic

RCV000801493/R DYSFY/ LGMD2B

Pathogenic CV000173782 NR Pathogenic

NR NR NR NR Likely pathogenic

Pathogenic/ RCV001058931/ DYSFY/ LGMD2B NR Likely pathogenic

Likely RCV000667055
pathogenic

Pathogenic/ RCV001058931 DYSFY/ LGMD2B

Likely RCV000667055 NR Likely pathogenic
pathogenic
NR NR NR NR Pathogenic

RCV000175175/ LGMD2B/ NP
Pathogenic RCV000711548 NR Pathogenic
 NR NR NR NR Pathogenic

Pathogenic/ RCV001229764/ DYSFY/ LGMD2B

Likely RCV000763088 CM994326 Pathogenic
pathogenic

Likely
RCV000671395 LGMD2B NR Likely pathogenic
pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Likely pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Likely pathogenic

Pathogenic/ RCV000553055/ DYSFY/ LGMD2B

Likely RCV000201092 CM053839 Likely pathogenic
pathogenic

NR NR NR NR Pathogenic

Pathogenic RCV000593431 NP CD105951 Pathogenic

Pathogenic/ RCV000391157/ DYSFY/ LGMD2B

Likely RCV000984167 CM053205 Likely pathogenic
pathogenic
NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

Pathogenic RCV000667000 LGMD2B CM066052 Pathogenic

RCV000697172/R DYSFY/ LGMD2B

Pathogenic/ CV000176550 CS031443 Pathogenic

Pathogenic
NR NR NR NR

NR NR NR NR Pathogenic

NR NR NR NR Pathogenic
Pathogenic/ RCV001050002/ DYSFY/ LGMD2B CM103813 Likely pathogenic
Likely RCV000176934
pathogenic

RCV000526163/ DYSFY/ LGMD2B

Pathogenic RCV000201098 CM053204 Pathogenic

Pathogenic RCV000555598/ DYSFY/ LGMD2B CM033374 Pathogenic

RCV000596380
RCV000808564/ DYSFY/ LGMD2B/
RCV000007063/ MMD1
Pathogenic RCV000007061 CM052851 Pathogenic

Pathogenic RCV000555598/ DYSFY/ LGMD2B CM033374 Pathogenic

RCV000596380

VUS RCV000665378 LGMD2B NR Likely Pathogenic

Pathogenic/ RCV001229764/ DYSFY/ LGMD2B

Likely RCV000763088 CM994326 Pathogenic
pathogenic
Pathogenic/ RCV001229764/ DYSFY/ LGMD2B CM994326 Pathogenic
Likely RCV000763088
pathogenic

NR NR NR NR Pathogenic

Pathogenic RCV000800396 DYSFY CM070076 Pathogenic

NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

VUS RCV000080283 NP NR Likely pathogenic

VUS RCV000080290 NP NR Likely pathogenic

VUS RCV000080283 NP NR Likely pathogenic

VUS RCV000080290 NP NR Likely pathogenic

NR NR NR NR Pathogenic

Pathogenic RCV000537543/ DYSFY/ LGMD2B CD075370 Pathogenic

RCV000984262
Likely RCV000595186 NP NR Pathogenic
pathogenic
NR NR NR NR Pathogenic

NR NR NR NR Pathogenic

NR NR NR CM074152 Pathogenic

Pathogenic RCV000299421 NP NR Pathogenic

 RCV000808564/ DYSFY/ LGMD2B/
Pathogenic RCV000007063/ MMD1 CM052851 Pathogenic
RCV000007061
Pathogenic RCV000299421 NP NR Pathogenic

Pathogenic RCV000794872/ DYSFY/ LGMD2B CM013384 Pathogenic

RCV000178524
NR NR NR NR Pathogenic

NR NR NR NR Likely pathogenic

Pathogenic RCV000007057 LGMD2B CS005353 Likely pathogenic

NR NR NR NR Pathogenic

Pathogenic/ RCV000553055/ DYSFY/ LGMD2B

Likely RCV000201092.7 CM053839 Likely pathogenic
pathogenic
VUS RCV000591077 NP NR Likely pathogenic

NR NR NR CM164196 Likely pathogenic

Pathogenic RCV000591549 NP CS105932 Pathogenic

Pathogenic/ RCV000395191/ NP/ DYSFY

Likely RCV001201873 NR Pathogenic
pathogenic
NR NR NR NR Likely pathogenic

NR NR NR NR Likely pathogenic

Pathogenic RCV000594297 NR NR Likely pathogenic

Pathogenic/ RCV001058932/ DYSFY/ LGMD2B

Likely RCV000331428 CS054185 Likely pathogenic
pathogenic
NR NR NR NR Likely pathogenic

Pathogenic RCV000808564/ DYSFY/ LGMD2B/ CM052851 Pathogenic

RCV000007063/ MMD1
RCV000007061

NR NR NR NR Pathogenic

Pathogenic RCV000307535 NP NR Pathogenic

NR NR NR NR Likely pathogenic

NR NR NR NR Pathogenic
NR-Not reported; NP- Not provided VUS- Variant of uncertain significance; Hom- Homozygous; Het- Heterozygous, ACMG-
Missense; NS- Nonsense; IF- In frame; FS- Frameshift; Del-Deletion; SS-Splice site; DYSFY- Dysferlinopathy; LGMD
recessive 2 ; MMD1- Miyoshimusculardystrophy1;
P21*- Has a heterozygous variation in CAPN3 c.2193C>G (p.Phe731Leu) in exon 21 which is a VUS
P22*- has a homozygous single base pair deletion in exon 12 of the CHRNE gene c.1327delG; p.Glu443LysfsTer64.
- Heterozygous, ACMG- American College of Medical Genetics; MS-
Dysferlinopathy; LGMD2B- Muscular dystrophy, limb-girdle, autosomal