Table 2 Overview of genotypes of CHRNE-patients included in the study. hm = homozyhous; cht = compound heterozyhous
Patient | Family | Genetic variant (inheritance) | HGVS nomenclature | Classifiaction in ClinVar / other information |
|---|---|---|---|---|
1 | 1 | c.452_454del (p.Glu151del) (hm) | NM_000080.4(CHRNE): c.452_454del (p.Glu151del) | conflicting: VUS, likely path, path |
2 | 1 | c.452_454del (p.Glu151del) (hm) | NM_000080.4(CHRNE): c.452_454del (p.Glu151del) | conflicting: VUS, likely path, path |
3 | 1 | c.452_454del (p.Glu151del) (hm) | NM_000080.4(CHRNE): c.452_454del (p.Glu151del) | conflicting: VUS, likely path, path |
4 | 2 | c.1032 + 2_1032 + 3delinsGT (hm) | NM_000080.4(CHRNE): c.1032 + 2_1032 + 3delinsGT, r.spl?, p.(Val345ArgfsTer52) | SpliceAI: donor loss and donor gain 1 nucleotide upstream, out-of-frame effect |
5 | 2 | c.1032 + 2_1032 + 3delinsGT (hm) | NM_000080.4(CHRNE): c.1032 + 2_1032 + 3delinsGT, r.spl?, p.(Val345ArgfsTer52) | SpliceAI: donor loss and donor gain 1 nucleotide upstream, out-of-frame effect |
6 | 2 | c.1032 + 2_1032 + 3delinsGT (hm) | NM_000080.4(CHRNE): c.1032 + 2_1032 + 3delinsGT, r.spl?, p.(Val345ArgfsTer52) | SpliceAI: donor loss and donor gain 1 nucleotide upstream, out-of-frame effect |
7 | 3 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
8 | 3 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
9 | 4 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
10 | 5 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
11 | 6 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
12 | 7 | c.1291G > C p.Ala421Pro (cht) | NM_000080.4(CHRNE): c.1291G > C (p.Ala431Pro) | pathogenic |
c.1441 C > T, p.Arg481Ter (cht) | NM_000080.4(CHRNE): c.1441 C > T (p.Arg481Ter) | pathogenic | ||
13 | 8 | c.1373_1375del (p.Cys458del) (hm) | NM_000080.3(CHRNE): c.1373_1375del (p.Cys458del) | pathogenic |
14 | 9 | c.1353dup (p.Asn452fs) (hm) | NM_000080.4(CHRNE): c.1353dup (p.Asn452fs) | pathogenic |
15 | 10 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
16 | 10 | c.1327del (p.Glu443LysfsTer64) (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |
17 | 11 | NM_000080.4(CHRNE): c.130dup (p.Glu44fs) (cht) | NM_000080.4(CHRNE): c.130dup (p.Glu44fs) | pathogenic |
c.1353dup (p.Asn452GlufsTer4) (cht) | NM_000080.4(CHRNE): c.1353dup (p.Asn452GlufsTer4) | pathogenic | ||
18 | 12 | c.127_128insG; p.Glu44fs (hm) | NM_000080.4(CHRNE): c.130dup (p.Glu44GlyfsTer3) | pathogenic |
19 | 13 | c.1327del; p.Glu443Lysfs*64 (hm) | NM_000080.4(CHRNE): c.1327del (p.Glu443LysfsTer64) | pathogenic |