Table 2 Missense variants corresponding to the pore region of KCNQ4 from the genome Aggregation Database
hg19 | cDNA position | Amino acid substitution | Conservation | dbSNP150 | gnomAD MAF | gnomAD POPMAX | Mutation Taster | PP2 Humvar | SIFT | Con-del | CADD | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mm | Gg | Xt | Dr | |||||||||||
chr1:41285101 G > A | c.791A>G | p.N264S | N | N | N | N | rs745846744 G = 0.00002/2 (ExAC) | 0.0000121831 (no hom) | SAS (0.000097) | DC (1) | Dam (0.996) | Del (0.02) | Del (0.845) | 24.2 |
chr1:41285116C>T | c.806C>T | p.S269F | S | T | T | T | rs771549225 T = 0.000008/1 (ExAC) | 0.00000406098 (no hom) | AMR (0.000030) | DC (0.999) | Dam (0.876) | Del (0) | Del (0.786) | 32 |
chr1:41285127T>G | c.817T>G | p.S273A | S | S | S | A | rs763733527 G = 0.00005/6 (ExAC) | 0.0000284273 (no hom) | SAS (0.000227) | DC (0.999) | Dam (0.992) | Tol (1) | Neu (0.448) | 12.32 |
chr1:41285142A>G | c.832A>G | p.T278A | T | T | T | T | rs763326539 G = 0.000008/1 (ExAC) G = 0.00003/1 (TOPMED) | 0.00000406157 (no hom) | AMR (0.00003) | DC (1) | Dam (0.996) | Tol (0.33) | Del (0.486) | 24.2 |
chr1:41285553T>A | c.841T>A | p.L281M | L | L | L | L | No | 0.00000406055 (no hom) | NFE (0.000009) | DC (1) | Dam (0.999) | Del (0) | Del (0.935) | 24.6 |
chr1:41285596T>C | c.884T>C | p.L295P | L | L | L | T | No | 0.00000406296 (no hom) | AFR (0.000065) | DC (1) | Dam (0.94) | Tol (0.3) | Neu (0.414) | 24.6 |
