Table 5 The details of SNV/InDel information

Information

Position

X:20,074,820

1:53,556,483

1:209,933,593

12:70,956,666

1:46,546,408

1:231,906,773

exon

4

8

3

14

2

6

SNP ID

rs750367268

–

rs555004337

rs186466118

rs115181807

rs56229136

Ref allele

G

G

A

T

G

G

Alt allele

A

A

T

C

A

C

Function

missense

missense

missense

missense

missense

missense

PolyPhen-2 score

0.139(benign)

–

0.729(possibly damaging)

0.521(possibly damaging)

1(probably damaging)

0.059(benign)

Freq_Alt (1000)

–

0.000199

0.001797

0.004193

–

0.000599

Kaviar_

20,150,923

0.0000194

0.0000388

0.0006015

0.0015006

–

0.0003428

ESP6500

–

–

–

–

–

0.000077

gnomAD

0.000011

0.000028

0.0006

0.0019

0.000022

0.0004

CMDB

–

–

–

0.0038

0.0051

–

Genotype

Case 1

G/A

G/A

A/T

T/C

G/A

G/C

Case 2

G/A

G/A

A/T

T/C

G/A

G/C

Case 3

G/A

G/A

A/T

T/C

G/A

G/C

Case 4

G/A

G/A

A/T

T/C

G/A

G/C

Case 5

A/A

G/A

A/T

T/C

G/A

G/C

Con 1

G/G

G/G

A/A

T/T

G/G

G/G

Con 2

G/G

G/G

A/A

T/T

G/G

G/G