Table 2 Genetic variants
Genetic mutation | Variant | Associated phenotype | n (%) |
|---|---|---|---|
p.Ala143Thr (c.427G>A) | Missense | VUS | 2 (2.1) |
p.Asp313Gly (c.938A>G) | Missense | Classic | 4 (4.1) |
p.Asp313Tyr/p.Gly411Asp (c.937G>T; 1232G>A) | Missense | Classic | 1 (1.0) |
p.Gly147Glu (c.440G>A) | Missense | Classic | 1 (1.0) |
p.Gly373Asp (c.1118G>A) | Missense | Classic | 1 (1.0) |
p.Gly411Asp (c.1232G>A) | Missense | Classic | 1 (1.0) |
p.Ile270Thr (c.809T>C) | Missense | Classic | 1 (1.0) |
p.Lys185* (c.553A>T) | Nonsense | Classica | 1 (1.0) |
p.Met187Arg (c.560T>G) | Missense | Classic | 9 (9.3) |
p.Met187Thr (c.560T>C) | Missense | Classic | 1 (1.0) |
p.Met290Ile (c.870G>A o c.870G>C o c.870G>T) | Missense | Non-classica | 3 (3.1) |
p.Met290Thr (c.869T>C) | Missense | Classica | 2 (2.1) |
Other: c.9_19del | Frameshift | Classica | 3 (3.1) |
Other: p.Gly163* (c.487 G>T) | Nonsense | Non-classica | 2 (2.1) |
p.Gln119* (c.355C>T) | Nonsense | Classic | 1 (1.0) |
p.Gln250Pro (c.749A>C) | Missense | Classic | 5 (5.2) |
p.Arg118Cys (c.352C>T) | Missense | VUS | 3 (3.1) |
p.Arg227* (c.679C>T) | Nonsense | Classic | 1 (1.0) |
p.Arg301Gln (c.902G>A) | Missense | Non-classic | 10 (10.3) |
p.Arg363His (c.1088G>A) | Missense | Non-classic | 1 (1.0) |
p.Ser126Gly (c.376A>G) | Missense | VUS | 1 (1.0) |
p.Ser238Asn (c.713G>A) | Missense | Non-classic | 36 (37.1) |
p.Trp162Gly (c.484T>G) | Missense | Classic | 1 (1.0) |
p.Trp262* (c.785G>A o c.786G>A) | Nonsense | Classic | 1 (1.0) |
p.Trp81Ser (c.242G>C) | Missense | Classic | 1 (1.0) |
p.Trp95* (c.284G>A o c.285G>A) | Nonsense | Classic | 1 (1.0) |
p.358delGlu (c.1072_1074del) | Deletion | Classic | 1 (1.0) |
p.Ala368delinsFYfs*23 (c.1102delGinsTTATAC) | Frameshift | Classica | 1 (1.0) |
p.Lys426Argfs*23 (c.1277_1278del) | Frameshift | Classic | 1 (1.0) |