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Table 1 The 80 mosaic variants detected in the probands

From: A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

 

Patient

Gene

Refseq ID

Mosaic variants

Category

AAF

AD

1F

ARID1A

NM_006015

c.2914delG (p.D972fs)

Path

17.5%

2M

ARID2

NM_152641

c.4741C>T (p.P1581S)

VOUS

20.0%

3M

ASXL1

NM_015338

c.2083_2084delCA (p.Q695fs)

Path

28.7%

4M

COL12A1

NM_004370

c.533G>T (p.R178I)

VOUS

16.5%

5F

CREBBP

NM_004380

c.5991delC (p.V1998fs)

Path

25.0%

6M

CREBBP

NM_004380

c.1447C>T (p.R483*)

Path

23.3%

7M

DNM1

NM_004408

c.415G>C (p.G139R)

LP

24.7%

8M

DNMT3A

NM_175629

c.2260C>T(p.L754F)

LP

18.0%

9M

DYNC1H1

NM_001376

c.5497G>A (p.A1833T)

VOUS

24.2%

10M

EEF1A2

NM_001958

c.796C>T(p.R266W)

Path

32.0%

11F

ELN

NM_001081755

c.1711G>A (p.A571T)

VOUS

22.8%

12U

ENG

NM_000118

c.67+2T>G

LP

11.8%

13F

EP300

NM_001429

c.2660C>T(p.T887I)

LP

12.0%

14F

GABRB2

NM_000813

c.664G>T (p.V222F)

LP

20.8%

15F

GJA1

NM_000165

c.433G>A(p.V145M)

VOUS

16.0%

16F

HNRNPK

NM_002140

c.1003G>A (p.G335S)

VOUS

17.8%

17M

IDH2

NM_002168

c.419G>A (p.R140Q)

Path

19.6%

18M

KANSL1

NM_001193466

c.868C>T (p.R290*)

VOUS

11.6%

19M

KCNT1

NM_020822

c.1421G>A (p.R474H)

Path

29.0%

20F

KIF1B

NM_015074

c.2710G>A (p.E904K)

VOUS

17.3%

21F

KMT2A

NM_001197104

c.3581G>A (p.C1194Y)

LP

36.0%

22M

KMT2D

NM_003482

c.10938_10939delinsT (p.P3647fs)

Path

27.8%

23M

KMT2D

NM_003482

c.8506C>T (p.R2836C)

VOUS

10.4%

24F

NALCN

NM_052867

c.1783G>T (p.V595F)

LP

25.8%

25M

NF1

NM_001042492

c.5907_5908delAA (p.R1970fs)

Path

10.4%

26F

NF2

NM_000268

c.810+1G>T(N/A)

Path

15.0%

27F

NLRC4

NM_021209

c.512C>T (p.S171F)

LP

25.3%

28M

NOTCH2

NM_024408

c.118A>G (p.M40V)

VOUS

29.0%

29F

PIK3CA

NM_006218

c.1359_1361delAGA(p.E453del)

Path

15.0%

30M

POLG

NM_002693

c.2557C>T (p.R853W)

VOUS

10.4%

31F

PTPN11

NM_002834

c.1403C>T(p.T468M)

LP

17.0%

32M

SNTG1

NM_018967

c.814A>T (p.K272*)

VOUS

12.8%

33F

SYNGAP1

NM_006772

c.1630C>T(p.R544*)

Path

11.0%

34M

TRAF7

NM_032271

c.1111C>G (p.R371G)

VOUS

13.3%

35M

TWIST2

NM_057179

c.223G>C(p.E75Q)

Path

24.0%

36F

ROBO1

NM_002941

c.3055T>G(p.Y1019D)

LP

20.0%

AD/AR

37F

ACTA1

NM_001100

c.1003C>T (p.P335S)

VOUS

14.4%

38F

COL6A3

NM_004369

c.3932A>T(p.N1311I)

VOUS

25.0%

39F

SLC25A4

NM_001151

c.706C>T (p.R236C)

VOUS

15.2%

AD/somatic

40U

BRAF

NM_004333

c.1786G>C (p.G596R)

VOUS

15.6%

41M

KRAS

NM_004985

c.355G>A (p.D119N)

VOUS

20.8%

42M

WT1

NM_024426

c.865_867delinsAA (p.Y289fs)

Path

34.6%

43F

HRAS

NM_005343

c.38G>A (p.G13D)

Path

19.0%

 

44M

MTOR

NM_004958

c.7255G>A (p.E2419K)

LP

22.3%

45M

MTOR

NM_004958

c.7247C>A (p.A2416D)

LP

16.0%

46M

MTOR

NM_004958

c.5930C>T (p.T1977I)

Path

21.5%

47M

PIK3CA

NM_006218

c.1030G>A (p.V344M)

LP

24.4%

48F

PIK3CA

NM_006218

c.1093G>A (p.E365K)

Path

12.7%

AR

49M

ADGRV1

NM_032119

c.16368G>T (p.K5456N)

VOUS

23.7%

50M

ALG6

NM_013339

c.52C>T (p.R18*)

Path

17.9%

51F

COX15

NM_004376

c.1129A>T (p.K377*)

Path

12.1%

52F

CWF19L1

NM_018294

c.70delA (p.R24fs)

Path

14.0%

53M

GNPTG

NM_032520

c.376G>A (p.G126S)

VOUS

18.7%

54F

ZMPSTE24

NM_005857

c.1077dupT (p.L362fs)

VOUS

79.7%

Somatic

55M

IDH1

NM_005896

c.395G>A (p.R132H)

LP

14.0%

56M

TET2

NM_001127208

c.3961A>T (p.K1321*)

VOUS

30.2%

XL

57F

ALG13

NM_001099922

c.320A>G (p.N107S)

Path

10.9%

58F

CDKL5

NM_003159

c.593G>A (p.G198D)

VOUS

11.6%

59F

DDX3X

NM_001193416

c.573_575del (p.I191del)

LP

21.1%

60F

DDX3X

NM_001193416

c.1805G>A (p.R602Q)

VOUS

13.9%

61F

HCFC1

NM_005334

c.1004A>G (p.Y335C)

LP

16.4%

62F

NAA10

NM_003491

c.247C>T (p.R83C)

Path

16.2%

63F

OPHN1

NM_002547

c.1817C>T (p.S606F)

VOUS

18.2%

64F

SNX14

NM_153816

c.1050T>A(p.F350L)

VOUS

18.0%

65F

ZC4H2

NM_018684

c.199C>T (p.R67*)

LP

24.2%

66M

NEXMIF

NM_001008537

c.862G>T(p.E288*)

Path

20.0%

67M

CASK

NM_003688

c.913_914dupAA (p.G306fs)

Path

47.2%

68M

CLIC2

NM_001289

c.255A>T(p.K85N)

VOUS

11.0%

69M

DMD

NM_004006

c.583C>T (p.R195*)

Path

14.3%

70M

GRIA3

NM_000828

c.1936T>C (p.S646P)

VOUS

61.9%

71M

GRIA3

NM_000828

c.1981A>G (p.M661V)

LP

37.9%

72M

HUWE1

NM_031407

c.8987G>A(p.R2996Q)

VOUS

13.0%

73M

KDM5C

NM_004187

c.469T>A (p.Y157N)

LP

44.6%

74M

KDM6A

NM_021140

c.2172_2173delAT(p.L725fs)

Path

11.0%

75M

L1CAM

NM_000425

c.2357T>A(p.I786N)

LP

85.0%

76M

OTC

NM_000531

c.1048C>T (p.Q350*)

Path

10.8%

77M

PCDH19

NM_001184880

c.919G>A (p.E307K)

VOUS

75.9%

78M

PDHA1

NM_000284

c.265G>A (p.G89S)

VOUS

17.1%

79M

TTN

NM_133378

c.87881T>C(p.V29294A)

VOUS

10.0%

80M

UBA1

NM_003334

c.1631G>A (p.R544Q)

VOUS

30.1%

  1. F female, M male, Path pathogenic, LP likely pathogenic, AAF alternate allele fraction
  2. Bold genes showed up more than one time