Deletion | NC_000004.12:g.(?_185684754)_(186709827_?)del | F11 | Pathogenic | 4 | 186605908 | 187630981 | na | na | criteria provided, single submitter | - |
Duplication | NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) | F11 | Pathogenic | 4 | 187205384 | 187205385 | G | GGATATTA | criteria provided, multiple submitters, no conflicts | - |
Deletion | Single allele | F11 | Likely pathogenic | 4 | 187186066 | 187210839 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1120T>C (p.Cys374Arg) | F11 | Likely pathogenic | 4 | 187201719 | 187201719 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1118T>C (p.Leu373Ser) | F11 | Likely pathogenic | 4 | 187201717 | 187201717 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.802C>T (p.Arg268Cys) | F11 | Pathogenic | 4 | 187201212 | 187201212 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.728C>T (p.Ser243Phe) | F11 | Likely pathogenic | 4 | 187197517 | 187197517 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.359T>C (p.Met120Thr) | F11 | Likely pathogenic | 4 | 187195303 | 187195303 | T | C | criteria provided, single submitter | - |
Deletion | NM_000128.4(F11):c.343del (p.Tyr115fs) | F11 | Likely pathogenic | 4 | 187195285 | 187195285 | AT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.1480+2T>C | F11 | Likely pathogenic | 4 | 187206969 | 187206969 | T | C | criteria provided, single submitter | - |