Table 2 List of variants in SLC3A1.

1

Missense

c.283G > A*

p.(Ala95Thr)

Hetero

1

1

TM1

2

Missense

c.313A > G*

p.(Ile105Val)

Hetero

1

1

TM1

3

Missense

c.470 T > C*

p.(Ile157Thr)

Hetero

1

2

Extra

4

Missense

c.548 T > C*

p.(Val183Ala)

Hetero

3

2

Extra

5

Missense

c.659A > G*

p.(His220Arg)

Hetero

1

3

Extra

6

Missense

c.763 T > A *

p.(Trp255Arg)

Hetero

1

3

Extra

7

Missense

c.989A > C*

p.(Gln330Pro)

Hetero

1

5

Extra

8

Missense

c.1037 T > C

p.(Leu346Pro)

Hetero

1

6

Extra

9

Missense

c.1323C > G*

p.(Pro441Arg)

Hetero

1

7

Extra

10

Missense

c.1334 T > C

p.(Ile445Thr)

Hetero

1

8

Extra

11

Missense

c.1742 T > G*

p.(Val581Gly)

Hetero

1

10

Extra

12

Missense

c.1772G > A *

p.(Arg591Lys)

Hetero

1

10

Extra

13

Missense

c.2017 T > C

p.(Cys673Arg)

Hetero

1

10

Extra

14

Nonsense

c.1113C > A

p.(Tyr371X)

Hetero

1

6

Extra

15

Nonsense

c.1328G > A*

p.(Trp443X)

Homo

1

7

Extra

16

Frameshift

c.1323dupT*

p.(Asn442fs)

Hetero

2

7

Extra

17

Frameshift

c.1820delT

p.(Leu607fs)

Hetero

1

10

Extra

18

Frameshift

c.1820delT

p.(Leu607fs)

Homo

1

10

Extra

19

Frameshift

c.1898_1899insAT

p.(Asp634fs)

Homo

1

10

Extra

20

Splice site

c.1500 + 1G > A

Hetero

1

8 + 1 intro

Extra

21

Splice site

c.1617 + 1_1617 + 2dupGT*

Hetero

1

9 + 1 + 2 intron

Extra

22

Deletions

Ex10 deletion

Homo

2

10

Extra