| Genename | Variants |
|---|---|
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101980992T>C,c.475A>G,p.I159V |
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101980367A>G,c.1100T>C,p.V367A |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5134774T>A,c.1287T>A,p.D429E |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5128817G>A,c.800G>A,p.S267N |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5127465C>T,c.559C>T,p.R187C |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5123244A>G,c.377A>G,p.Y126C |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5123002G>C,c.259G>C,p.G87R |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5122964A>T,c.221A>T,p.H74L |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5122955C>T,c.212C>T,p.S71F |
| ALG1(NM_019109,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase,464aa) | g.16:5122041C>A,c.191C>A,p.T64N |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125653291A>G,c.26T>C,p.L9P |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125652537G>A,c.41C>T,p.S14L |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125652523C>T,c.55G>A,p.A19T |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125652499T>A,c.79A>T,p.M27L |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125652459C>T,c.119G>A,p.R40H |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125651495G>A,c.218C>T,p.T73I |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125650494C>T,c.322G>A,p.V108M |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125648356T>C,c.463A>G,p.N155D |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125648343G>A,c.476C>T,p.S159L |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125648283A>G,c.536T>C,p.I179T |
| ALG1L(NM_001195223,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like,207aa) | g.3:125648209C>T,c.610G>A,p.G204S |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129816049C>T,c.571C>T,p.R191C |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129816022C>T,c.544C>T,p.H182Y |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129816016A>T,c.540-2A>T,p.180Acceptor |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129814985C>T,c.518C>T,p.A173V |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129814935del,c.468del,p.156fs |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129814907A>G,c.440A>G,p.D147G |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129811029C>T,c.217C>T,p.R73W |