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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

        Â