Study | Patient # | Allelic mutations | Effects of mutation | Variant severity |
---|---|---|---|---|
VITAL | ||||
1 | ND | NA | NA | |
2 | c.46A > C HOM C c.676-42G > A HET c.966 + 46C > T HET c.894G > A HET c.455 T > C HET | p.Thr16Pro rs1051338 Intronic rs1556478 Intronic rs3802656 p.Gln298Gln rs116928232 p.Leul52Pro | Common variant Common variant Common variant Documented pathogenic VUS | |
3 | c.884A > G HET | p.His295Arg | VUS | |
4 | c.539-5C > T HET c.482delA HET c.538G > A HET | Intronic rs2297472 p.Asn161Ilefs*19 p.Gly180Ser | Common variant Documented pathogenic VUS | |
5 | c.539-5C > T HET c.676-42G > A HOM c.966 + 46C > T HOM c.193C > T HET c.894G > A HET c.419G > C HOM | Intronic rs2297472 Intronic rs1556478 Intronic rs3802656 p.Arg65Stop p.Gln298Gln rs116928232 p.Trp140Ser | Common variant Common variant Common variant Documented pathogenic Documented pathogenic VUS | |
6 | c.676-2A > G HOM | Intronic | Documented pathogenic | |
7 | c.350_351insCC HET c.797G > T HET | p.Met117IlefsStop45 p.Gly266Val | Expected Pathogenic VUS | |
8 | ND | NA | NA | |
9 | c.67G > A HOM c.539-5C > T HET c.260G > T HOM | p.Gly23Arg rs1051339 Intronic rs2297472 p.Gly87Val | Common variant Common variant Documented pathogenic | |
CL08 | ||||
1 | c.594dupT HOM | p.Ala199Cysfs*13 | Documented pathogenic | |
2a,b | c.67G > A HOM c.539-5C > T HOM | p.Gly23Arg Intronic | Common variant Common variant | |
3 | ND | NA | NA | |
4 | ND | NA | NA | |
5a | ND | NA | NA | |
6a | ND | NA | NA | |
7 | c.229G > T HOM | Intronic | Documented pathogenic | |
8 | ND | NA | NA | |
9 | c.46A > C HOM c.658C > T HOM c.539-5C > T HOM c.894 + 1G > A HOM | p.Thr16Pro p.Pro220Ser Intronic Splicing | Common variant VUSc Common variant Documented pathogenic | |
10 | c.892C > Td | p.Gln298* | Documented pathogenic |