Skip to main content

Table 3 Variants coordinates

From: Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Location

Gene

RefSeq Match

cDNA_

position

CDS_

position

Protein_

position

Amino_

acids

Codons

Read depth

Exon

Variant type

gnomAD_

Allele Freq

Rs_number

3:78717171-78717171

ROBO1

NM_002941

1942

1828

610

V/I

Gta/Ata

84

14

Missense

0.0005077

rs141178745

3:77530342-77530342

ROBO2

NM_002942

695

639

213

D/E

gaC/gaG

101

4

Missense

0.0003215

rs184080216

3:77629200-77629200

ROBO2

NM_002942

3331

2431

811

R/W

Cgg/Tgg

200

16

Missense

0.008396

rs188582283

11:124,740,559–124,740,559

ROBO3

NM_022370

1160

968

323

T/M

aCg/aTg

55

6

Missense

0.002300

rs151168595

11:124743284-124743284

ROBO3

NM_022370

1807

1615

539

R/W

Cgg/Tgg

171

10

Missense

0.003234

rs139930558

11:124746004-124746004

ROBO3

NM_022370

2768

2576

859

P/Q

cCa/cAa

55

16

Missense

11:124747839-124747839

ROBO3

NM_022370

3185

2993

998

G/V

gGa/gTa

40

21

Missense

0.001755

rs75098003

11:124748637-124748637

ROBO3

NM_022370

3670

3478

1160

P/S

Cct/Tct

259

23

Missense

11:124765481-124765481

ROBO4

NM_019055

1394

908

303

A/D

cGg/cTg

71

6

Missense

11:124763923-124763923

ROBO4

NM_019055

1823

1337

446

A/D

cGg/cTg

43

9

Missense

0.000

rs1287612263

11:124756982-124756982

ROBO4

NM_019055

2812

2326

776

R/C

Gcg/Acg

96

15

Missense

0.004699

rs138481093

11:124756431-124756431

ROBO4

NM_019055

3209

2723

908

R/Q

gCc/gTc

77

16

Missense

3.891e-05

rs747627515

11:124754934-124754934

ROBO4

NM_019055

-

-

-

-

-

270

-

Splice_donor_region

0.009486

rs145918924

10:98825811-98825811

SLIT1

NM_003061

692

446

149

P/L

gGg/gAg

257

5

Missense

0.000

rs1459814303

10:98823216-98823216

SLIT1

NM_003061

1035

789

263

C/*

acG/acT

67

8

Stop_gained

10:98808814-98808814

SLIT1

NM_003061

1609

1363

455

R/S

Gcg/Tcg

72

14

Missense

10:98763933-98763933

SLIT1

NM_003061

4003

3757

1253

A/T

Cgg/Tgg

49

34

Missense

8.131e-05

rs751020526

10:98762595-98762595

SLIT1

NM_003061

4266

4020

1340

E/D

ctT/ctG

70

35

Missense

0.002267

rs747965419

10:98762470-98762470

SLIT1

NM_003061

4391

4145

1382

H/R

cAt/cGt

539

35

Missense

1.773e-05

rs768287574

10:98762079-98762079

SLIT1

NM_003061

4448

4202

1401

C/F

aCg/aAg

52

36

Missense

4:20618562-20618562

SLIT2

NM_004787

4129

3877

1293

L/M

Ctg/Atg

67

35

Missense

5:168189673-168189673

SLIT3

NM_003062

1901

1481

494

R/T

tCc/tGc

85

15

Missense

0.0009129

rs147560182

5:168180047-168180047

SLIT3

NM_003062

2306

1886

629

S/N

tCa/tTa

144

18

Missense

0.007048

rs34260167

5:168098265-168098265

SLIT3

NM_003062

4485

4065

1355

C/*

acG/acT

88

34

Stop_gained

  1. Last check of allele frequencies was performed using gnomAD browser on 24 November 2022