Patient No | Nucleotide changes | Amino acid changes | Variant types | ACMG evidences | ACMG classification | Allele Frequency | In silico verdict | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
1000 Genomes | gnomAD | Mutation Taster | PolyPhen-2 | PROVEAN | HSF | NNsplice | ||||||
1 | c.2782A > G | p.Arg928Gly | Missense | PM2 + PM3 + PP1-4 | Likely pathogenic | NI | NI | D | ProbD | D | – | – |
1 | c.136-2A > G | – | Splicing | PVS1 + PM2 + PP1 + PP3 + PP4 | Pathogenic | NI | NI | – | – | – | S | S |
2/3 | c.1645C > T | p.Arg549Cys | Missense | PM2 + PM3 + PP1-4 | Likely pathogenic | NI | NI | D | ProbD | D | – | – |
4 | c.1801G > A | p.Ala601Thr | Missense | PM2 + PP1-4 | Likely pathogenic | NI | 0.007962‰ | D | PossD | D | – | – |
4 | c.1406G > A | p.Arg469Lys | Missense | PM2 + PP1-4 | Likely pathogenic | NI | NI | D | ProbD | D | – | – |
7 | c.3100_3101insA | p.Ile1034Asnfs*4 | Frameshift | PVS1 + PM2 + PP1 + PP4 | Pathogenic | NI | NI | – | – | – | – |  |
7 | c.80 + 1G > C | – | Splicing | PVS1 + PM2 + PP1 + PP3 + PP4 | Pathogenic | NI | NI | – | – | – | S | S |
8 | c.716C > T | p.Ser239Leu | Missense | PM2 + PM3 + PP1-4 | Likely pathogenic | NI | NI | D | ProbD | D | – | – |
9 | c.3230C > T | p.Thr1077Met | Missense | PM2 + PM3 + PP1-4 | Likely pathogenic | NI | 0.1991‰ | D | ProbD | D | – | – |
10 | c.2914G > A | p.Asp972Asn | Missense | PM2 + PP1-4 | Likely pathogenic | NI | NI | D | B | N | – | – |
10 | c.965 T > C | p.Leu322Pro | Missense | PM2 + PP1-4 | Likely pathogenic | NI | NI | D | ProbD | D | – | – |
12 | c.2123G > A | p.Trp708* | Nonsense | PVS1 + PM2 + PP1 + PP4 | Pathogenic | NI | NI | – | – | – | – | – |
12 | c.3789delA | p.Gly1264Alafs*38 | Frameshift | PVS1 + PM2 + PP1 + PP4 | Pathogenic | NI | NI | D | – | – | – | – |
13 | c.879dupA | p.Ala294Serfs*62 | Frameshift | PVS1 + PM2 + PP1 + PP4 | Pathogenic | NI | NI | – | – | – | – | – |