Table 1 ARMC5 SNVs in myelomeningocele patients
Subject code | Gender | Pre-FA fortification | Mutation ID | Protein mutation | rs ID (dbSNP151) | Adjusted AC (EUR) | Adjusted AN (EUR) | AF (EUR) | Control AC (NFE) | Control AN (NFE) | Control AF (NFE) | OR | p-value | CADD phred |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B39-407 | M | 1998 | 16:31,469,751:A:G | p.Thr12Ala | rs979451735 | 1 | 510 | 0.20% | 0 | 18,978 | 0.00% | ¥ | 0.026 | 13.12 |
C42-1019 | F | 1960 | 16:31,470,942:C:T | p.Pro128Ser | rs200309618 | 1 | 450 | 0.22% | 32 | 41,112 | 0.08% | 2.86 | 0.302 | 19.13 |
B34-267 | M | 1993 | 16:31,473,868:C:T | p.Arg429Cys | rs539440145 | 1 | 494 | 0.20% | 0 | 42,506 | 0.00% | ¥ | 0.011 | 24.1 |
E75-466 | F | 1985 | 16:31,477,780:G:A | p.Arg888Gln | rs199498431 | 1 | 470 | 0.21% | 19 | 42,368 | 0.04% | 4.75 | 0.198 | 22.8 |
Subject code | Gender | Pre-FA fortification | Mutation ID | Protein mutation | rs_dbSNP151 | Adjusted AC (MEX) | Adjusted AN (MEX) | AF (MEX) | Control AC (AMR) | Control AN (AMR) | Control AF (AMR) | OR | p-value | CADD phred |
A23-456 | F | 1991 | 16:31,470,793:G:A | p.Arg78His | rs920446902 | 1 | 500 | 0.20% | 2 | 13,094 | 0.02% | 13.12 | 0.106 | 27.5 |
D68-941 | M | 2004 | 16:31,470,811:C:T | p.Ala84Val | rs202112554 | 1 | 500 | 0.20% | 13 | 14,204 | 0.09% | 2.19 | 0.384 | 13.5 |
D46-697 | M | 1989 | 16:31,474,085:G:A | p.Arg501Gln | rs749775865 | 1 | 500 | 0.20% | 3 | 17,048 | 0.02% | 11.39 | 0.109 | 21.2 |
C84-353 | F | 1998 | 16:31,474,132:G:A | p.Gly517Ser | rs372472557 | 1 | 498 | 0.20% | 2 | 17,048 | 0.01% | 17.15 | 0.083 | 23 |
F78-368 | M | 1986 | 16:31,476,020:C:T | p.Pro654Leu | rs200115942 | 1 | 488 | 0.20% | 7 | 16,780 | 0.04% | 4.92 | 0.205 | 20.6 |