Patient samples

Locus

Ref

Genes

dbSNP

Strand

1

2

3

4

Amino acid change

Coding

Exon

chr1:200968575

T

KIF21B

rs753390486

T/G

p. Glu596Ala

c.1787A > C

13

chr2:111598958

C

ACOXL

rs1554005

+

C/T

p. Thr255Met

c.764C > T

10

chr2:111850515

C

ACOXL

rs17041850

+

C/T

p. Pro505Leu

c.1514C > T

17

chr2:133489376

C

NCKAP5

rs776162189

C/G

p. Asp1793His

c.5377G > C

17

chr2:133541107

T

NCKAP5

rs16841277

A/A

A/A

T/A

p. Asn1093Tyr

c.3277A > T

14

chr2:133542105

C

NCKAP5

rs142329411

C/G

14

chr2:206480353

C

PARD3B

rs80119103

+

C/A

p. Pro1083His

c.3248C > A

22

chr5:7520881

G

ADCY2

rs13166360

+

G/T

p. Val147Leu

c.439G > T

3

chr5:52243247

G

ITGA1

Novel

+

G/T

p.Ala1151Ser

c.3451G > T

28

chr5:132561468

C

FSTL4

rs61741674

C/A

p. Glu353Asp

c.1059G > T

2

chr6:12120588

C

HIVEP1

rs2228209

+

C/T

C/T

C/T

p. Thr187Met

c.560C > T

9

chr6:152665271

G

SYNE1

rs150179494

A/A

p. Pro4057Leu

c.12170C > T

4

chr7:1484457

G

MICALL2

rs61736381

G/A

146

chr8:2909992

G

CSMD1

rs6558702

G/A

G/A

p. Thr2551Met

c.7652C > T

74

chr8:72977703

C

TRPA1

rs920829

C/T

C/T

p. Glu179Lys

c.535G > A

6

chr11:63974966

G

FERMT3

rs149000560

+

G/A

G/A

p. Gly44Arg

c.130G > A

50

chr12:89745477

C

DUSP6

rs2279574

C/A

C/A

p. Val114Leu

c.340G > T

4

chr12:89916811

C

GALNT4, POC1B,

rs2230283

C/T

C/T

C/T

p. ? p. Val506Ile, p. Val334Ile

c.100 + 2086G > A, c.1516G > A, c.1000G > A

4

chr12:100042040

C

FAM71C, ANKS1B

rs11109968

−, +

G/G

G/G

p.? p. Arg30Gly

c.1272+6805G > C, c.88C > G

4

chr12:106460938

G

NUAK1

rs3741883

G/C

G/C

G/C

p. Pro543Arg

c.1628C > G

2

chr13:24798055

G

SPATA13

Novel

+

G/A

p. Ala330Thr

c.988G > A

1

chr13:24823699

G

SPATA13

rs41287016

+

G/A

p. Gly580Ser

c.1738G > A

3

chr13:29898768

A

MTUS2

rs928661

+

C/C

C/C

A/C

C/C

p. Gln952Pro

c.2855A > C

1

chr15:68628163

C

ITGA11

rs2306022

C/T

p. Val433Met

c.1297G > A

7

chr16:23634293

C

PALB2

rs45551636

C/T

p. Gly998Glu

c.2993G > A

2

chr16:81211496

C

PKD1L2

rs9935113

C/A

C/A

p. Gly785Cys

c.2353G > T

2

chr16:81232336

T

PKD1L2

rs34276551

T/C

p. Thr492Ala

c.1474A > G

3

chr16:81241100

G

PKD1L2

rs11150370, rs386792899

G/C

G/C

G/C

G/C

p. Pro301Ala

c.901C > G

3

chr16:81249927

C

PKD1L2

rs7185774

T/T

5