From: De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
Gene | Position (hg19) | Ref | Alt | MAF | Variants | dbSNP id | Freq | Pathogenicity | |
---|---|---|---|---|---|---|---|---|---|
GERP | POLYPHEN2 prediction | ||||||||
HRASLS5 | chr11:63,230,659 | G | C | 0.040 | Intron_variant | rs2282479 | 0.017 | 1.14 | Unknown |
HRASLS5 | chr11:63,233,710 | A | G | 0.189 | Leu207Leu | rs2275999 | 0.100 | 4.16 | Unknown |
HRASLS5 | chr11:63,256,441 | C | G | 0.207 | Ala93Pro | rs940611 | 0.033 | −1.03 | Benign (0.000) |
HRASLS5 | chr11:63,258,424 | C | T | unknown | Arg28Gln | unknown | 0.017 | −5.14 | Poss-dam (0.897) |
LGALS12 | chr11:63,276,480 | G | A | 0.023 | Intron_variant | rs200256001 | 0.033 | −2.69 | Unknown |
LGALS12 | chr11:63,277,334 | A | G | 0.009 | Ile176Val | rs117587231 | 0.017 | 4.42 | Benign (0.005) |
LGALS12 | chr11:63,278,621 | C | G | 0.333 | Intron_variant | rs2239679 | 0.200 | −0.07 | Unknown |
PLA2G16 | chr11:63,381,458 | C | T | 0.072 | Intron_variant | rs61929725 | 0.150 | −5.26 | Unknown |