Table III.
Non-synonymous variants identified in NLRP7 in cases of primary infertility or RPL—SNP not found in the study group.
| Exon | Nucleotide change | Protein change | dbSNP |
MAF Score (Minor Allele) |
||
|---|---|---|---|---|---|---|
| ID | MAF (Minor Allele) | Unexplained infertility | RPL | |||
| 2 | c.66A>G | p.L22L | rs149175257 | Unavailable | 0.005(G) | — |
| 4 | c.390G>A | p. Q130Q | rs775883 | 0.373(A) | 0.297(A) | 0.33(A) |
| 4 | c.1137G>C/T | p.K379K | rs10418277 | 0.191(T) | 0.196(C) | 0.187(C) |
| 4 | c.1725G>T | p.L575L | rs73055288 | 0.019(A) | 0.047(A) | — |
| 4 | c.467G>A | p.R156Q | rs61746625 | 0.001(A) | 0.010(A) | — |
| 4 | c.1279A>T | p.M427L | Novel | Unavailable | 0.005(T) | — |
| 4 | c.1288T>C | p.F430L | rs1654634 | Unavailable | 0.005(C) | — |
| 4 | c.1290C>T | p.F430F | rs61745087 | Unavailable | 0.005(T) | — |
| 4 | c.1302C>T | p.D434D | rs104895545 | Unavailable | 0.005(T) | — |
| 4 | c.1441G>A | p.A481T | rs61747414 | 0.101(A) | 0.090(A) | 0.1041(A) |
| 4 | c.1104T>C | p.I368I | rs1654636 | 0.027(C) | 0.005(C) | — |
| 4 | c.574A>C | p.M192L | rs104895529 | 0.000(C) | 0.005(C) | — |
| 4 | c.929A>G | p.Q310R | rs77812009 | 0.009(G) | — | 0.0208(G) |
| 4 | c.931C>A | p.L311I | rs79513034 | 0.009(A) | 0.015(A) | 0.0208(A) |
| 4 | c.955G>A | p.V319I | rs775882 | 0.278(A) | 0.19(A) | 0.2083(A) |
| 4 | c.1104T>C | p.I368I | rs1654636 | 0.028(C) | — | 0.0208(C) |
| 4 | c.1460G>A | p.G487E | rs775881 | 0.115(A) | 0.02(A) | 0.0416(A) |
| 4 | c.1491C>T | p.I497I | rs775880 | 0.083(T) | 0.026(T) | 0.0416(T) |
| 4 | c.1532A>G | p.K511R | rs61743949 | 0.025(G) | 0.005(G) | 0.0208(G) |
| 4 | c.1725G>T | p.L575L | rs73055288 | 0.025(T) | 0.04(T) | 0.0208(T) |
| 6 | c.2156C>T | p. A719V | rs104895526 | <0.001(T) | 0.005(T) | 0.0208(T) |
| 7 | c.2444G>A | p.R815H | rs150034626 | 0.001(A) | 0.005(A) | — |
| 9 | c.2682T>C | p. Y894Y | rs269951 | 0.425(T) | 0.468(T) | 0.4583(T) |
| 9 | c.2775A>G | p.A925A | rs269950 | 0.425(A) | 0.468(G) | 0.4583(G) |