Location | Coding (c.) DNA Sequencea (amino acid change) | SNP ID | Effect | Prevalence, n (%) | Minor allele frequency (%) | Novel or previously reported | ||
---|---|---|---|---|---|---|---|---|
Cases n = 150 | Controls n = 200 | Cases | gnomAD, SAS | |||||
Pathogenic variant | Â | Â | Â | Â | Â | Â | Â | |
Exon 11 | c.2835delA (p.Asp946Ilefs*14) | rs80359356 | Frameshift | 1 (0.67) | 0 | 0.333 | – | ClinVar, LOVD |
Variants of uncertain significance | Â | Â | Â | Â | Â | Â | Â | |
Exon 12 | c.6886A > C (p.Ile2296Leu) | rs576279166 | Missense | 1 (0.67) | 0 | 0.333 | 0.144 | ClinVar, LOVD |
Exon 17 | c.7948G > C (p.Glu2650Gln) | – | Missense | 1 (0.67) | 0 | 0.333 | – | Novel |
Exon 27 | c.9976A > T (p.Lys3326Ter) | rs11571833 | Nonsense | 2 (1.33) | 0 | 0.667 | 0.693 | ClinVar, LOVD |
Benign/likely benign variants - coding | Â | Â | Â | Â | Â | Â | Â | |
Exon 3 | c.198A > G (p.Gln66Gln) | rs28897700 | Silent | 1 (0.67) | – | 0.333 | 0.777 | ClinVar, LOVD |
Exon 10 | c.865A > C (p.Asn289His) | rs766173 | Missense | 1 (0.67) | – | 0.333 | 11.56 | ClinVar, LOVD |
Exon 10 | c.1166C > A (p.Pro389Gln) | rs397507263 | Missense | 1 (0.67) | – | 0.333 | 0.317 | ClinVar, LOVD |
Exon 10 | c.1365A > G (p.Ser455Ser) | rs1801439 | Silent | 1 (0.67) | – | 0.333 | 11.37 | ClinVar, LOVD |
Exon 11 | c.2229 T > C (p.His743His) | rs1801499 | Silent | 1 (0.67) | – | 0.333 | 11.42 | ClinVar, LOVD |
Exon 11 | c.2783 T > A (p.Val928Asp) | – | Missense | 1 (0.67) | – | 0.333 | – | Novel |
Exon 11 | c.2919G > A (p.Ser973Ser) | rs45525041 | Silent | 1 (0.67) | – | 0.333 | 0.159 | ClinVar, LOVD |
Exon 11 | c.2971A > G (p.Asn991Asp) | rs1799944 | Missense | 2 (1.33) | – | 0.667 | 11.41 | ClinVar, LOVD |
Exon 11 | c.3396A > G (p.Lys1132Lys) | rs1801406 | Silent | 2 (1.33) | – | 0.667 | 29.89 | ClinVar, LOVD |
Exon 11 | c.3807 T > C (p.Val1269Val) | rs543304 | Silent | 1 (0.67) | – | 0.333 | 10.12 | ClinVar, LOVD |
Exon 11 | c.4271C > T (p.Ser1424Phe) | – | Missense | 7 (4.67) | – | 2.333 | – | Novel |
Exon 11 | c.4258G > T (p.Asp1420Tyr) | rs28897727 | Missense | 3 (2.0) | – | 1.0 | 0.846 | ClinVar, LOVD |
Exon 11 | c.4928 T > C (p.Val1643Ala) | rs28897731 | Missense | 2 (1.33) | – | 0.667 | 0.010 | ClinVar, LOVD |
Exon 11 | c.5312G > A (p.Gly1771Asp) | rs80358755 | Missense | 1 (0.67) | – | 0.333 | 0.016 | ClinVar, LOVD |
Exon 11 | c.5744C > T (p.Thr1915Met) | rs4987117 | Missense | 4 (2.67) | – | 1.333 | – | ClinVar, LOVD |
Exon 11 | c.5986G > A (p.Ala1996Thr) | rs80358833 | Missense | 1 (0.67) | – | 0.333 | 0.372 | ClinVar, LOVD |
Exon 12 | c.6935A > T (p.Asp2312Val) | rs80358916 | Missense | 1 (0.67) | – | 0.333 | 0.189 | ClinVar, LOVD |
Exon 14 | c.7242A > G (p.Ser2414Ser) | rs1799955 | Silent | 50 (33.3) | – | 16.66 | 21.99 | ClinVar, LOVD |
Exon 14 | c.7312G > T (p.Asp2438Tyr) | – | Missense | 1 (0.67) | – | 0.333 | – | Novel |
Exon 15 | c.7469 T > C (p.Ile2490Thr) | rs11571707 | Missense | 1 (0.67) | – | 0.333 | 0.1699 | ClinVar, LOVD |
Exon 17 | c.7906 T > C (p.Cys2636Arg) | – | Missense | 1 (0.67) | – | 0.333 | – | Novel |
Exon 17 | c.7971A > G (p.Lys2657Lys) | – | Silent | 1 (0.67) | – | 0.333 | – | Novel |
Exon 19 | c.8421G > A (p.Ser2807Ser) | rs371278843 | Silent | 1 (0.67) | – | 0.333 | 0.2711 | ClinVar, LOVD |
Exon 22 | c.8851G > A (p.Ala2951Thr) | rs11571769 | Missense | 3 (2.0) | – | 1.0 | 1.417 | ClinVar, LOVD |
Exon 27 | c.10234A > G (p.Ile3412Val) | rs1801426 | Missense | 2 (1.33) | – | 0.667 | 0.219 | ClinVar, LOVD |
Benign/likely benign variants - non-coding | Â | Â | Â | Â | Â | Â | ||
3′ UTR | c.1–26G > A | rs1799943 | 5′ UTR | 1 (0.67) | – | 0.333 | 28.47 | ClinVar, LOVD |
Intron 4 | c.653 + 67A > C | rs11571610 | Intronic | 1 (0.67) | – | 0.333 | 0 | ClinVar |
Intron 10 | c.1910-21A > T | – | Intronic | 1 (0.67) | – | 0.333 | – | Novel |
Intron 10 | c.1910-74 T > C | rs2320236 | Intronic | 7 (4.67) | – | 2.333 | 0 | ClinVar |
Intron 10 | c.1910-51G > T | rs11571651 | Intronic | 29 (19.3) | – | 9.667 | 11.28 | ClinVar, LOVD |
Intron 14 | c.7435 + 53C > T | rs11147489 | Intronic | 8 (5.33) | – | 2.667 | 0 | ClinVar |
Intron 21 | c.8755-66 T > C | rs4942486 | Intronic | 2 (1.33) | – | 0.667 | 0 | ClinVar |