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Table 1 The mutations list after data filtering and co-segregation analysis

From: Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

CHR POS RB AB Gene Mutation SIFT PolyPhen-2 MutationTaster PANTHER OMIM clinical phenotype ToppGene function ACMG classification
1 45,481,060 C T UROD NM_000374: c.994C > T, p.R332C 0,D 0.94,D 0.99,D AD or AR: Porphyria cutanea tarda heme biosynthetic process BP5
2 149,216,410 G A MBD5 NM_018328: c.83G > A, p.R28H 0,D 0.99,D 0.99,D P AD: Mental retardation response to growth hormone BP5
2 189,953,479 G T COL5A2 NM_000393: c.587G > T, p.A196D 0.29,T 0.98,D 0.99,D AD: Ehlers-Danlos syndrome regulation of endodermal cell differentiation BP4, BP5
3 38,674,642 G A SCN5A NM_198056: 157G > A, p.R53W 0,D 0.36,B 0.95,D P AD: Atrial fibrillation voltage-gated sodium channel activity BP4, BP5
3 184,953,112 G A EHHADH NM_001966: c.317G > A, p.A106V 0,D 0.99,D 0.99,D P AD: Fanconi renotubular syndrome peroxisomal transport BP5
17 48,701,856 G A CACNA1G NM_018896: c.6365G > A, p.R2122H 0.04,D 0.01,B 0.8,D P AD: Spinocerebellar ataxia voltage-gated calcium channel BP4, BP5
17 54,672,274 C G NOG NM_005450: c.690C > G, p.C230W 0,D 0.99,D 0.99,D D AD: Symphalangism proximal fibroblast growth factor receptor signaling pathway PM1, PM2
  1. CHR Chromosome, POS position, RB reference sequence base, AB alternative base identified, D damaging, P probably damaging, B Benign, T Tolerated, AR autosomal recessive, AD autosomal dominant, BP Benign Supporting, PM Pathogenicity Moderate