Description of all likely pathogenic novel mutations identified in this study
| Family number | cDNA change | Amino acid change | E/I | Conclusion | Evidence |
| 7 | c.282_322del41 | p.Ala96fs | E 1 | Likely pathogenic | Frameshift |
| 9 | c.474delA | p.Gly159Glufs*2 | E 2 | Likely pathogenic | Frameshift |
| 97 | c.463_465del | p.155_155del | E2 | Likely pathogenic | Frameshift |
| 3 | c.696insC | p.Arg235Lysfs*9 | E 5 | Likely pathogenic | Frameshift |
| 12 | c.831_835del5 | p.Val278Thrfs*11 | E 5 | Likely pathogenic | Frameshift |
| 15 | c.871-2A>G | p.? | I 5 | Likely pathogenic | Affects essential splice site. In silico splicing tools predict an effect on splicing. |
| 16 | c.983T>A | p.IIe328Lys | E 6 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. SIFT and PolyPhen predict to be pathogenic. |
| 24 | c.1102T>G | p.Phe368Val | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. SIFT and PolyPhen predict to be pathogenic. |
| 25 | c.1104C>A | p.Phe368Leu | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. Different substitution at same amino acid previously reported (HGMD CM114203). |
| 26 | c.1156A>T | p.Asn386Tyr | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. |
| 28 | c.1115G>C | Arg372Thr | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. Different substitution at same amino acid previously reported (HGMD CD021854, HGMD CI090392). |
| 29 | c.1130G>C | p.Gly377Glu | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. Different substitution at same amino acid previously reported (HGMD CM114634). |
| 32 | c.1169T>C | p.Met390Thr | E 8 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. |
| 33 | c.1174–1G>A | p.? | I 8 | Likely pathogenic | Affects essential splice site. In silico splicing tools predict an effect on splicing. |
| 44 | c.1253A>C | p.Glu418Ala | E 10 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. |
| 55 | c.1406delT | p.Phe469Leufs*14 | E 11 | Likely pathogenic | Frameshift |
| 56 | c.1408G>T | p.Asp470Tyr | E 11 | Pathogenic | Novel missense mutation at highly conserved amino acid. SIFT and PolyPhen predict to be pathogenic. Segregated in other family members. |
| 57 | c.1442_1443insA | p.Val482Cysfs*6 | E 12 | Likely pathogenic | Frameshift |
| 58 | c.1453G>A | p.Ala485Thr | E 12 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. |
| 59 | c.1493+2_1493+5delTAGG | p.? | I 12 | Likely pathogenic | In silico splicing tools predict donor splice site abolished. |
| 61 | c.1493G>T | p.Arg498Met | E 12 | Likely pathogenic | Novel missense mutation at highly conserved amino acid. Different substitution at same amino acid previously reported (HGMD CM063165). |
| 63 | c.1535_1536+1delAGG | p.Glu512Aspfs*7 | E 13 | Likely pathogenic | Frameshift |
| 66 | c.1635_1636insAA | p.Gly546Lysfs*5 | E 15 | Likely pathogenic | Frameshift |
| 68 | c.1636G>T | p.Gly546X | E 15 | Likely pathogenic | Frameshift |
| 70 | c.1664delA | p.Asp555Valfs*10 | E 15 | Likely pathogenic | Frameshift |
| 84 | c.1729–20T>G | p.? | I 16 | Likely pathogenic | In silico splicing tools predict cryptic splice site activated. |
| 88 | Duplication of exon 1 | p.? | E 1 | Pathogenic | Disruption leading to severe protein alteration. |
| 96 | Deletion of exons 2–9 | p.? | – | Pathogenic | Disruption leading to severe protein alteration. |
| 92 | Deletion of exons 1–16 | p.? | – | Pathogenic | Disruption leading to severe protein alteration. |
↵cDNA, complementary DNA; E, exon; I, intron.