S.No GENE Nucleotide change Amino acid change Exon dbSNP ID Hom/Het (n=64 probands) Allele frequency (n=128 alleles) Stuttering studies Allele frequency in South Asian ExAC Allele frequency in total ExAC
Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants Missense variants
1
GNPTAB
c.3598G>A
Glu1200Lys
Exon 19
rs137853825
- /1
0.008
(8/1013cases) = 0.00789
0.02181
0.003552
2 GNPTG c.802A>C Ile268Leu Exon 10 rs759796840 - /1 0.008 0.00006064 0.00000825
3
NAGPA
c.131G>C
Arg44pro
Exon 2
rs374266430
- /1
0.008
(1/1013) = 0.000099
0.000
0.00003589
4 NAGPA c.139C>T Leu47Phe Exon 2 rs371054576 - /1 0.008 0.000 0.00002625
5 NAGPA c.1394 C>T Thr465Ile Exon 10 rs7188856 - /22 0.172 0.1731 0.301
Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants Synonymous variants
6 GNPTAB c.1932A>G Thr644Thr Exon13 rs10778148 42/12 0.75 120/1708 alleles 0.6234 0.5885
7 GNPTG c.702T>C Pro234Pro Exon 9 rs532275192 - /1 0.008 0.003333 0.0004621
8 GNPTG c.813G>A Thr271Thr Exon 10 rs377647926 - /18 0.14 0.00004515 0.00002481
9 NAGPA c.333 A>G Gly111Gly Exon 2 rs2972272 41/19 0.789 229/1708 0.8266 0.7102
10 NAGPA c. 1485C>T Asn495Asn Exon 10 rs887854 42/22 0.828 0.8218 0.7017
Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants Non coding variants
11 GNPTG -4 C>T - 5’UTR rs554707396 - /1 0.008 0.001656 0.00142
12
NAGPA
c.1174+53C>A
-
intron 7
rs2937112
22/26
0.547
-
0.4295 (1000 Genomes)