Table 2 H Syndrome SLC29A3 reported mutations

c.1088G > A

Exon 6

p.Arg363Gln

Tunisia

Melki et al.

Tunisia

Jaouadi et al.

Spanish/Morocco

Molho et al.

c.1087C > T

Exon 6

p.Arg363Trp

Mexico

Bloom et al.

ND

Molho et al.

c.401G > A

Exon 4

p.Arg134His

Egypt

Al-Haggar et al.

c.610 + 1G > A

Intron 4

p ^NA

ND

Bloom et al.

c.307-308delTT

Exon 3

p.Phe103fs

Iran

Noavar et al.

c.625G > A

Exon 5

p.Gly208Arg

Japan

Fujita et al.

c.1309G > A

Exon 6

p.Gly437Arg

Israel

Molho et al.

India

Priya et al.

ND

Ramot et al.

Israel

Spiegel et al.

Egypt

El-Bassyouni

c.552C > G

Exon 4

p.Ser184Arg

Japan

Ramot et al.

IVS1 + 2T > G

Intron 1

p ^NA

Syria

Farooq et al.

c.971C > T

Exon6

p.Pro324Leu

Tunisia

Jaouadi et al.

Morocco

Molho et al.

c.42delC

Exon2

p.S15Pfs*86

Tunisia

Jaouadi et al.

c.243delA/c.300 + 1G > C

Exon 2

p.K81Nfs/p.N101LfsX34

Morocco

Bakhchane et al.

c.1279G > A

Exon 6

p.Gly427Ser

Bulgaria

Molho et al.

Egypt

Al-Haggar et al.

Israel

Spiegel et al.

c.400C > T

Exon 4

p.Arg134Cys

India

Mruthyunjaya et al.

c.1045delC

Exon 6

p.Leu349Serfs

ND

Molho et al.

c.933T > A

Exon 6

p.C310*

Turkey

Mutlu et al.

c.347T > G/c.610 + 1G > C

Exon3/Intron 4

p.Met116Arg/p ^NA

ND

Bloom et al.

c.1269_1270delinsA

Exon 6

p.Leu424Serfs*29

China

Liu et al.

c.1339G > A

Exon 6

p.Glu447Lys

Turkey

Vural et al.

c.300 + 2T > G

Intron 2

p ^NA

Syria

Farooq et al.

c.300 + 1G > A

Intron 2

p ^NA

ND

Morgan et al.

c.155G > A/c.1309G > A

Exon3/Exon6

p ^NA/p.Gly437Arg

Iran

Darvish et al.