Supplementary 1 (Continued)
| c.998 T>C |
p.Leu333Pro (p.L333P) |
NA |
NA |
NA |
(Alibakhshi et al., 2021) |
| c.(1-1393_1–405)_(352 +33_370)del |
p. Ex1_3del |
| c.165 T>G |
p.Phe55Leu (p.F55L) |
| c.329C>T |
p.Ser110Leu (p.S110L) |
| c.452A>G |
p.Asp151Gly (p.D151G) |
| c.506delG |
p.Arg169ProfsTer26 (p.R169Pfs*26) |
| c.592 T>G |
p.Tyr198Asp (p.Y198D) |
| c.602A>G |
p.His201Arg (p.H201R) |
| c.631C>A |
p.Pro211Thr (p.P211T) |
| c.692C>T |
p.Ser231Phe (p.S231F) |
| c.707-1G>C |
p.IVS6-1G>C |
| c.773 T>G |
p.Leu258Arg (p.L258R) |
| c.801G>T |
p.Gln267His (p.Q267H) |
| c.1066-3C>T |
p.IVS10-3C>T |
| c.1157A>G |
p.Tyr386Cys (p.Y386C) |
| c.1177_1178InsT |
p.Asn393IlefsTer2 (p.N393Ifs*2) |
| c.1218A>G |
p.Ile406Met (p.I406M) |
| c.1243G>A |
p.Asp415Asn (p.D415N) |
| c.1253C>A |
p.Thr418Asn (p.T418N) |
| c.208 T>C |
p.Ser70Pro (p.S70P) |
| c.1124A>G |
p.Gln375Arg (p.Q375R) |
| c.355C>T |
p.Pro119Ser (p.P119S) |
| c.441+4A>G |
p.IVS4+4A>G |
| c.163_165delTTT |
p.Phe55del (p.F55del) |
| c.995G>A |
p.Gly332Glu (p.G332E) |
| c.1223G>T |
p.Arg408Leu (p.R408L) |
| c.969+1G>A |
p. IVS9+1G>A |
| c.809G>A |
p.Arg270Lys (p.R270K) |
| c.479A>C |
p.Gln160Pro (p.Q160P) |
| c.1313A>T |
p.Asp438Ile (p.D438I) |
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