Table 4 Confirmation of genotypes from 26 ambiguous variations calls

2

227829345

G

ASP,TYR

COL4A3

K

G

G

G

G

G

G

G

K

G:T

G:T

6

71029714

T

GLU,GLY

COL9A1

Y

T

T

T

T

T

T

T

Y

T:T

T:T

T:T

14

70059717

T

TYR,CYS

ADAM20

Y

T

T

T

T

T

T

T

Y

T:T

T:T

T:T

16

28511156

T

ASN,THR

SULT1A2

K

T

T

T

T

T

T

T

K

T:G

T:G

T:G

9

100837151

C

PRO,LEU

COL15A1

C

Y

C

C

C

C

C

C

Y

C:C

14

69994396

T

TYR,HIS

ADAM21

T

Y

T

T

T

T

T

T

Y

T:T

T:T

T:T

16

28514697

G

PRO,LEU

SULT1A2

G

R

G

G

G

G

G

G

R

G:A

G:A

2

227632472

G

PRO,LEU

COL4A4

G

G

R

G

G

G

G

G

R

G:A

2

237945216

G

ARG,TRP

COL6A3

G

G

R

G

G

G

G

G

R

G:A

6

32286548

C

GLY,ARG

NOTCH4

C

C

Y

C

C

C

C

C

Y

C:T

10

123233227

C

ARG,GLN

FGFR2

C

C

Y

C

C

C

C

C

Y

C:C

C:C

C:C

15

72802259

A

ILE,THR

CYP1A1

A

A

R

A

A

A

A

A

R

A:G

15

82491107

T

MET,THR

ADAMTSL3

T

T

Y

T

T

T

T

T

Y

T:C

19

46210061

T

ILE,THR

CYP2B6

T

T

Y

T

T

T

T

T

Y

T:T

T:T

T:T

4

73407648

C

GLY,ARG

ADAMTS3

C

C

C

Y

C

C

C

C

Y

C:T

6

46728211

C

ARG,PRO

CYP39A1

C

C

C

S

C

C

C

C

S

C:G

C:G

7

99283117

G

ARG,GLN

CYP3A43

G

G

G

R

G

G

G

G

R

G:A

10

96474119

G

VAL,LEU

CYP2C18

G

G

G

K

G

G

G

G

K

G:T

10

96698964

A

HIS,ARG

CYP2C9

A

A

A

R

A

A

A

A

R

A:G

15

76845583

G

PRO,LEU

ADAMTS7

G

G

G

R

G

G

G

G

R

G:A

1

120269806

C

GLY,ARG

NOTCH2

C

C

C

C

C

Y

C

C

Y

C:C

C:C

C:C

8

24420887

C

PRO,LEU

ADAM7

C

C

C

C

C

Y

C

C

Y

C:C

C:C

C:C

17

38961570

G

PRO,LEU

ETV4

G

G

G

G

G

G

R

G

R

G:A

21

46365928

C

PRO,THR

COL6A2

C

C

C

C

C

C

M

C

M

C:A

2

189622367

G

PRO,LEU

COL5A2

G

G

G

G

G

G

G

R

R

G:A

5

129100767

C

THR,ILE

ADAMTS19

C

C

C

C

C

C

C

T

T

C:T