| Transcript | cDNA | Protein | domain | Variant type | Classification | References |
---|---|---|---|---|---|---|---|
M1 | NM_024022.4 | c.46C>T | p.(Arg16*) | * | Truncating | Pathogenic | [37] |
M2 | NM_024022.4 | c.208del | p.(his70fs) | * | Truncating | Pathogenic | [38] |
M3 | NM_024022.4 | c.280G>T | p.(Gly94*) | LDLRA | Truncating | pathogenic | [39] |
M4 | NM_024022.4 | c. 316C>T | p.(Arg106Cys) | Serine protease | Missense | (Likely) pathogenic | [39] |
M5 | NM_024022.4 | c.323-6G>A | p.(Val108fs) | LDLRA | Truncating | (Likely) pathogenic | [4] |
M6 | NM_024022.4 | c.325C>T | p.(Arg109Trp) | LDLRA | Missense | Pathogenic | [40] |
M7 | NM_024022.4 | c.413C>A | p.(Ala138Glu) | SRCR | Missense | (Likely) pathogenic | [41] |
M8 | NM_024022.4 | c.595G>A | p.(Val199Met) | SRCR | Missense | (Likely) pathogenic | [9] |
M9 | NM_024022.4 | c.916G>A | p.(Ala306Thr) | Serine protease | Missense | (Likely) pathogenic | [42] |
M10 | NM_024022.4 | c.936del | p.(Pro313fs) | Serine protease | Truncating | Likely pathogenic | ** |
M11 | NM_024022.4 | c.1276G>A | p.(Ala426Thr) | Serine protease | Missense | (Likely) pathogenic | [43] |