Mutation type | cDNA | Protein (predicted) | No. of case | Reference |
---|---|---|---|---|
Frame-shift deletion (20 cases) | c.268del | p.Ser90Valfs*59 | 1 | [1] |
c.1881_1882dela | p.Val629Alafs*56 | 1 | [1] | |
c.2365del | p.Ser789Alafs*8 | 1 | [1] | |
c.3597_3598del | p.Pro1200Argfs*17 | 1 | [1] | |
c.3852_3856del | p.Met1284Ilefs*2 | 2 | ||
c.4055del | p.Pro1352Glnfs*14 | 1 | [1] | |
c.4358_4359del | p.Thr1453Serfs*11 | 1 | [1] | |
c.4640del | p.His1547Leufs*76 | 1 | [1] | |
c.4678del | p.Glu1560Lysfs*63 | 1 | [1] | |
c.5549_5550del | p.Arg1850Ilefs*3 | 1 | [1] | |
c.5753_5756dela | p.Val1918Glufs*87 | 7 | ||
c.6087del | p.Ser2029Argfs*22 | 1 | [1] | |
c.6233del | p.Pro2078Hisfs*4 | 1 | [4] | |
Frame-shift insertion (2 cases) | c.[4999_5013del; 5031_5032insAA]b | p.[Asp1667_Asn1671del; Asp1678Lysfs*9] | 1 | [1] |
c.6002_6003insCC | p.Arg2002Glnfs*5 | 1 | [1] | |
Frame-shift duplication (2 cases) | c.3073dup | p.Met1025Asnfs*6 | 1 | [4] |
c.4549dup | p.Glu1517Glyfs*6 | 1 | [1] | |
Nonsense substitution (4 cases) | c.286C > T | p.Gln96* | 1 | [4] |
c.394C > T | p.Gln132* | 1 | [5] | |
c.3334C > T | p.Arg1112* | 2 | ||
In-frame deletion | c.4151_4174del24 | p.Leu1384_Val1391del | 1 | [1] |
Missense substitution | c.[4909A > T; 5528C > A]c | p.[Thr1637Ser; Ser1848Thr] | 1 | [4] |
Whole gene deletion | – | – | 1 | [1] |