| Genename | Variants |
|---|---|
| SIDT1(NM_017699,SID1 transmembrane family, member 1,827aa) | g.3:113251962C>A,c.94C>A,p.P32T |
| SIDT1(NM_017699,SID1 transmembrane family, member 1,827aa) | g.3:113251935G>A,c.67G>A,p.G23R |
| SIDT1(NM_017699,SID1 transmembrane family, member 1,827aa) | g.3:113251875G>A,c.7G>A,p.G3S |
| SIAH3(NM_198849,siah E3 ubiquitin protein ligase family member 3,269aa) | g.13:46357853T>C,c.475A>G,p.M159V |
| SIAH2(NM_005067,siah E3 ubiquitin protein ligase 2,324aa) | g.3:150480489C>T,c.148G>A,p.A50T |
| SIAH2(NM_005067,siah E3 ubiquitin protein ligase 2,324aa) | g.3:150460091C>T,c.812G>A,p.R271Q |
| SIAH1(NM_001006610,siah E3 ubiquitin protein ligase 1,313aa) | g.16:48395539del,c.894del,p.298fs |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124539300C>T,c.80G>A,p.R27H |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124539295C>T,c.85G>A,p.G29S |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124539273T>C,c.107A>G,p.K36R |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124530664T>C,c.160A>G,p.M54V |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124519549G>A,c.583C>T,p.R195W |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124518058C>T,c.631G>A,p.D211N |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124517370G>A,c.752C>T,p.T251M |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124517341G>A,c.781C>T,p.L261F |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124517310C>T,c.812G>A,p.R271H |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124517292G>A,c.830C>T,p.T277M |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124509622C>G,c.1003G>C,p.D335H |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124508623G>C,c.1030C>G,p.R344G |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124508502C>T,c.1151G>A,p.G384E |
| SIAE(NM_001199922,sialic acid acetylesterase,488aa) | g.11:124507019G>A,c.1295C>T,p.A432V |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50438789C>T,c.266G>A,p.R89K |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50378637G>A,c.436C>T,p.R146W |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50378634G>A,c.439C>T,p.H147Y |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50378384C>T,c.689G>A,p.R230Q |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50378020G>T,c.1053C>A,p.S351R |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50377785C>A,c.1288G>T,p.G430C |
| SHROOM4(NM_020717,shroom family member 4,1493aa) | g.X:50377532C>A,c.1541G>T,p.R514I |