Proband | Genomic Position: Change (GRCh37/hg19) | HGVS | Location (Exon/Domain) | Zygosity /Inheritance | In silico Predictions | Alternative Allele Frequency | ACMG/AMP 2018 Guideline | Clinvar | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Nucleotide change | Amino Acid change | CADD Phred | REVEL | KRGDB (1722 individuals) | GMAF (gnomAD) | Criteria | Classification | Classification | ||||
SH 386–847 | Chr9:75406833T-C | c.1256T > C | p.Phe419Ser | Exon 16/TM4 | Het/AD | 25.8 | 0.832 | Absent | Exome (0.00001194) Genome (Absent) | PM2, PP3 | VUS | ND |
SH 676–1332 | Chr9:75407146T-C | c.1444T > C | p.Trp482Arg | Exon 17/Linker between TM5/6 | Het/AD | 28 | 0.701 | 0.000293945 | Exome (0.000003977) Genome (Absent) | PM2, PP1, PP3 | VUS | ND |