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Table 1 Mutations identified in the same gene in two or more cases

From: Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

Sample ID FAT4 FKTN FRAS1 GLI3 KMT2D LMBRD1 PLEC POMT1 POMT2 TP63 USH2A
1454      p.P3109H p.R479W p.A1758V     
1467        p.G3855S     p.N336S
1549       p.G5A    p.I572V   
1575            p.N1797D
1605      p.P2193L       
1608 p.M1328 L           
1611 p.A1124V   p.Q919P       p.P730S   
1742            p.P3708L
1783           p.N568S  
XH1531      p.L3920insQQQL       
XH1535         p.L476F    
XH1546         p.L476F    p.T2807I
XH1559      p.V1561G       
XH1563     p.A1036V        
XH1566   p.I62F          p.Q3624R
XH1572           p.A502V  
XH1579    p.C3971R         p.I4386T, p.N3653S, p.V369 M
XH1582        p.S39G p.W597X    
XH1587       p.C513R      
XH1594     p.A286V        p.R4115H
XH1745   p.H186Y          
XH1784   p.Q428X