Table 2 Pathogenic/likely pathogenic variants identified in this study.

From: Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

No

Gene

RSID

Genome changes

Amino acid change

Types of changes

Pathogenicity

1

RIPK1

rs116040763

NC_000006.12:g.3113257C>T

NP_001341859.1:p.Thr645Met

Missense variant

Pathogenic

2

SLCO1B1

rs200994482

NC_000012.12:g.21224840G>A

NA

Splice donor variant

Pathogenic

3

ACADSB

rs779015128

NC_000010.11:g.123043110delC

NP_001317103.1:p.Pro147fs

Frame shift

Pathogenic

4

TCF4

rs587784464

NC_000018.10:g.55350904G>A

NP_001356514.1:p.Arg132Ter

Stop gained

Pathogenic

5

HCP5

rs2395029

NC_000006.12:g.31464003 T>G

NR_040662.1

Non coding transcript variant

Pathogenic; risk factor

6

KAT6A

rs139494583

NC_000008.10:g.41792077C > T

NP_006757.2:p.Glu1221Lys

Missense variant

Pathogenic

7

MOCOS

rs750896617

NC_000018.10:g.36260092C > T

NP_060417.4:p.Arg776Cys

Missense Variant

Pathogenic

8

SRD5A2

rs9332964

NC_000002.12:g.31529325C>T

NP_000339.2:p.Arg227Gln

Missense variant

Pathogenic/likely pathogenic

9

CUBN

rs143944436

NC_000010.11:g.16940152G>A

NP_011518011.1:p.Arg1810Ter

Stop gained

Pathogenic/likely pathogenic

10

MCCC2

rs119103221

NC_000005.10:g.71635176C>G

NP_001350076.1:p.Pro272Arg

Missense variant

Pathogenic

11

GJB2

rs80338943

NC_000013.11:g.20189349del

NP_003995.2:p.Leu79fs

Frame shift

Pathogenic

12

TACR3

rs764659822

NC_000004.12:g.103658260G>A

NP_001050.1:p.Thr231Ile

Missense Variant

Likely pathogenic

13

PRNP

rs1799990

NC_000020.11:g.4699605A > G

NP_001073590.1:p.Met129Val

Missense variant

Pathogenic/risk factor/likely benign

14

DCC

rs775565634

NC_000018.10:g.53339808G>A

NP_005206.2:p.Val754Met

Missense variant

Pathogenic

15

GJB2

rs111033204

NC_000013.11:g.20189282_20189283del

NP_003995.2:p.His100fs

Frame shift

Pathogenic

16

LOC107987057

rs2814707

NC_000009.12:g.27536399C>T

 

Non coding transcript variant intron variant

Uncertain significance

17

ZGRF1

rs61745597

NC_000004.12:g.112623837G > T

NP_060862.3:p.Leu48Met

Missense variant

Benign

18

FAM98C

rs201037487

NC_000019.10:g.38407003C>T

NP_777565.3:p.Arg282Ter

Stop gained

Likely pathogenic

19

ZGRF1

rs76187047

NC_000004.11:g.113506711C>T

NP_060862.3:p.Glu1363Lys

Missense variant

Benign

20

SCN9A

rs12478318

NC_000002.12:g.166277030 T>G

NP_002968.1:p.Met932Leu

Missense Variant

Uncertain significance

21

PRKN

rs751037529

NC_000006.12:g.161785793C>G

NP_004553.2:p.Gly284Arg

Missense variant

Pathogenic

22

SLC3A1

rs200483989

NC_000002.12:g.44286074C>T

NP_000332.2:p.Arg270Ter

Stop gained

Pathogenic

23

PYGM

rs114073621

NC_000011.10:g.64751346G>A

NP_005600.1:p.Arg650Ter

Stop gained

Pathogenic

  1. NC, NP, NR is the reference sequence based on a Chromosome, Protein (amino acid) sequence, Non-protein-coding RNA, respectively; g is genomic reference sequence; c is coding DNA reference sequence; For example: g.161785793C > G indicates substitution of the C nucleotide at genomic position g.161785793 with a G.
  2. NA not available.