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Table 2 The 40 mosaic variants detected in the parental or grandparental samples

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

 

Patient ID

Gene

Refseq ID

Mosaic variants

Category

AAF

Detected in the mother

 AD

81 M-PGM

DYRK1A

NM_001396

c.41C>T (p.S14F)

VOUS

.

82M-Mo

ATP1A3

NM_152296

c.410C>A (p.S137Y)

Path

14.9%

83M-Mo

CACNA1A

NM_001127221

c.400-3C>T(N/A)

LP

27.7%

84U-Mo

COL4A1

NM_001845

c.2879G>T (p.G960V)

LP

17.6%

85F-Mo

EPHA7

NM_004440

c.595A>T (p.K199*)

VOUS

8.7%

86F-Mo

FGFR2

NM_000141

c.289G>A (p.A97T)

VOUS

18.3%

87F-Mo

GARS

NM_002047

c.815T>G (p.L272R)

VOUS

21.1%

88M-Mo

GH1

NM_000515

c.291+2T>G

Path

11.8%

89F-Mo

GNAO1

NM_020988

c.736G>C(p.E246Q)

LP

9.7%

90F-Mo

MPZ

NM_000530

c.392A>C (p.N131T)

LP

13.2%

91U-Mo*

MYH3

NM_002470

c.2015G>A (p.R672H)

Path

7.4%

92M-Mo

SCN1B

NM_199037

c.794G>C (p.R265P)

VOUS

33.2%

93M-Mo*

TUBB

NM_178014

c.860C>T (p.P287L)

LP

3.1%

 AD/AR

94M-Mo

TUBB3

NM_006086

c.862G>C (p.E288Q)

LP

17.3%

95M-Mo

MAT1A

NM_000429

c.896G>A (p.R299H)

VOUS

14.3%

 AD/somatic

96M-Mo

ZNF423

NM_015069

c.2531G>A (p.G844E)

LP

25.3%

 AR

97M-Mo

FGFR1

NM_023110

c.1982G>A (p.R661Q)

VOUS

20.4%

 XL

98F-Mo

FAT4

NM_024582

c.8805C>A (p.Y2935*)

Path

9.1%

99M-Mo

ARX

NM_139058

c.1003T>C (p.F335L)

VOUS

7.8%

100M-Mo

ATP7A

NM_000052

c.3445C>T (p.Q1149*)

Path

6.5%

101F-Mo

ATRX

NM_000489

c.477delA (p.K159fs)

Path

10.1%

102M-Mo

AVPR2

NM_000054

c.335G>T (p.C112F)

LP

11.4%

103M-Mo

CUL4B

NM_003588

c.2722C>T (p.Q908*)

VOUS

3.1%

104M-Mo*

SLC16A2

NM_006517

c.590G>A (p.R197H)

Path

6.0%

105M-Mo

SLC6A8

NM_005629

c.1697T>C (p.L566P)

VOUS

15.5%

Detected in the father

 AD

107F-Fa

ADCY5

NM_183357

c.3574C>T (p.R1192*)

VOUS

17.1%

108M-Fa

ARID1B

NM_020732

c.6322C>T (p.Q2108*)

Path

6.8%

109M-Fa

CACNA1A

NM_001127221

c.3533C>T (p.P1178L)

VOUS

29.5%

110M-Fa

CACNA1A

NM_001127221

c.653C>T (p.S218L)

Path

15.7%

111M-Fa*

COL1A1

NM_000088

c.3709_3716del (p.S1237fs)

Path

6.4%

112F-Fa

CREBBP

NM_004380

c.5238_5239delinsT (p.L1747fs)

Path

33.2%

113F-Fa

DNM1

NM_004408

c.709C>T (p.R237W)

Path

8.1%

114M-Fa

DYRK1A

NM_001396

c.1162dupG (p.A388fs)

Path

17.6%

115F-Fa*

SATB2

NM_015265

c.1174G>C (p.G392R)

LP

15.2%

116F-Fa*

SCN2A

NM_021007

c.2562+1G>T

Path

24.6%

117F-Fa

SPTLC1

NM_006415

c.1072G>C (p.E358Q)

LP

6.5%

118F-Fa

STXBP1

NM_003165

c.704G>C (p.R235P)

LP

10.8%

 AR

119F-Fa

TRIO

NM_007118

c.4505G>A (p.R1502Q)

LP

23.1%

 XL

120F-Fa

COL4A5

NM_000495

c.2365A>C (p.T789P)

VOUS

67.8%

  1. F female, M male, PGM paternal grandmother, Mo Mother, Fa Father, Path pathogenic, LP likely pathogenic, AAF alternate allele fraction
  2. Bolded genes showed up more than one time. *AAF of this case were estimated by exome sequencing, the rest cases without * were performed with PCR-based amplicon-NGS
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Genome Medicine

ISSN: 1756-994X

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