pt # | ethnic origin | exon | mutation | mutation effect c | |||
---|---|---|---|---|---|---|---|
Kuokkanen 2006 [4] | 1–27 | Finland | homozygous | ex09 | c.4170T > A | p.Y1390* | nonsense (truncating) |
28–29 | Finland | compound heterozygous a | ex14 | c.4998_5001delTGAG | p.S1666Kfs*58 | fs (truncating) | |
30 | Finland | compound heterozygous a | ex02 | c.653_654delCT | p.S218Cfs*6 | fs (truncating) | |
31 | Finland | compound heterozygous a | ex03 | c.804G > C | p.Q268H | missense | |
32 | Finland | compound heterozygous a | ex09 | c.4087G > A | p.G1363S | missense | |
Torniainen 2009 [6] | 33 | Italian | compound heterozygous | ex07 | c.2062T > C | p.S688P | missense |
compound heterozygous | ex12 | c.4834G > T | p.E1612* | nonsense (truncating) | |||
34 | Finland | compound heterozygous a | ex06 | c.1692_1696delAGTGG | p.V565Lfs*3 | fs (truncating) | |
35 | Finland | compound heterozygous a | ex12 | c.4760G > A | p.R1587H | missense | |
36 | Turkish b | homozygous | ex09 | c.4087G > A | p.G1363S | missense | |
Uchida 2012 [7] | 37 | Japanese | compound heterozygous | ex10 | c.4419C > G | p.Y1473* | nonsense (truncating) |
compound heterozygous | ex16 | c.5387delA | p.D1796Afs*18 | fs (truncating) | |||
This study 2015 | 38 | Turkish | homozygous | ex08 | c.3448delT | p.S1150Pfs*19 | fs (truncating) |