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Table 3 Specific variants found to be associated with nonsyndromic orofacial cleft

From: Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population

Gene

Coding

Amino acid change

PolyPhen

SIFT

Mutation Taster

Phenotype

Number of cases

MTHFR

c.1816C > T

p.R606C

Possibly damaging

Damaging

Disease causing

BL CLP

1/103

MTHFR

c.62G > A

p.S21N

Benign

Damaging

Disease causing

BL CP

1/103

MYH9

c.5722G > A

p.D1908N

Possibly damaging

Damaging

Disease causing

L CLP

1/103

MYH9

c.3676C > T

p.R1226W

Benign

Damaging

Disease causing

L CLP

1/103

MYH9

c.3320G > A

p.R1107Q

Possibly damaging

Damaging

Disease causing

BL CP

1/103

MYH9

c.3262G > A

p.A1088T

Possibly damaging

Damaging

Disease causing

R CL

1/103

MYH9

c.2606C > T

p.T869M

Benign

Damaging

Polymorphism

BL CP

1/103

MYH9

c.452A > G

p.Y151C

Possibly damaging

Damaging

Disease causing

L CLP

1/103

CRISPLD2

c.119_121del

p.40_41del

Polymorphism

L CLP

1/103

CRISPLD2

c.1337C > G

p.A446G

Possibly damaging

Damaging

Disease causing

L CLP

1/103

ABCA4

c.6498C > G

p.I2166M

Possibly damaging

Tolerated

Disease causing

R CLP

1/103

ABCA4

c.4610C > T

p.T1537M

Possibly damaging

Damaging

Disease causing

L CL; unknown CP

2/103

ABCA4

c.4297G > A

p.V1433I

Possibly damaging

Tolerated

Polymorphism

BL CLP

1/103

ABCA4

c.763C > T

p.R255C

Possibly damaging

Tolerated

Disease causing

L CL

1/103

FOXE1

c.1090G > A

p.G364S

Possibly damaging

Tolerated

Disease causing

BL CLP

2/103

FGF8

c.251C > T

p.P84L

Possibly damaging

Damaging

Disease causing

L CL

1/103

FGF8

c.250C > T

p.P84S

Possibly damaging

Damaging

Disease causing

L CL

1/103

VAX1

c.363dupT

p.C122fs

Disease causing

R CLP

1/103

PVRL1

c.334 T > A

p.S112T

Benign

Disease causing

Unknown CLP

1/103

PVRL1

c.52C > T

p.L18F

Benign

Polymorphism

R CLP; L CLP

2/103

FGFR2

c.293C > T

p.T98M

Possibly damaging

Damaging

Disease causing

L CL

1/103

IRF6

c.421_423del

p.141_141del

Disease causing

R CLP

1/103

  1. BL bilateral, CL cleft lip, CLP cleft lip with palate, CP cleft palate, L left, R right