| Genename | Variants |
|---|---|
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64746833C>T,c.256G>A,p.D86N |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64746823G>A,c.266C>T,p.P89L |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64712548_64712549insTGT,c.700_701insACA,p.234ins1aa |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64712546_64712547insGTT,c.702_703insAAC,p.234_235ins1aa |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64679759G>A,c.1195C>T,p.Q399X |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64664420G>T,c.1659C>A,p.C553X |
| C12orf56(NM_001170633,chromosome 12 open reading frame 56,622aa) | g.12:64664370C>T,c.1709G>A,p.R570Q |
| C12orf54(NM_152319,chromosome 12 open reading frame 54,127aa) | g.12:48888763A>G,c.*40+1A>G,p.3'UTRDonor |
| C12orf54(NM_152319,chromosome 12 open reading frame 54,127aa) | g.12:48888663C>A,c.325C>A,p.R109S |
| C12orf54(NM_152319,chromosome 12 open reading frame 54,127aa) | g.12:48888594C>T,c.256C>T,p.P86S |
| C12orf54(NM_152319,chromosome 12 open reading frame 54,127aa) | g.12:48884610C>T,c.184C>T,p.R62W |
| C12orf52(NM_032848,chromosome 12 open reading frame 52,269aa) | g.12:113629471C>A,c.659C>A,p.T220K |
| C12orf52(NM_032848,chromosome 12 open reading frame 52,269aa) | g.12:113629240C>G,c.428C>G,p.T143R |
| C12orf52(NM_032848,chromosome 12 open reading frame 52,269aa) | g.12:113624768G>C,c.217G>C,p.A73P |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88390262C>T,c.370G>A,p.E124K |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88390214T>C,c.418A>G,p.M140V |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88390189A>G,c.443T>C,p.L148S |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88390181G>C,c.451C>G,p.P151A |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88388444T>A,c.558A>T,p.K186N |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88383053A>G,c.688T>C,p.S230P |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88381636G>T,c.808C>A,p.P270T |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88380094T>C,c.917A>G,p.Q306R |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88379788C>T,c.965G>A,p.R322H |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88379773C>T,c.980G>A,p.R327Q |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88379752T>C,c.1001A>G,p.Y334C |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88376963G>A,c.1136C>T,p.T379M |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88376933C>T,c.1166G>A,p.R389Q |
| C12orf50(NM_152589,chromosome 12 open reading frame 50,414aa) | g.12:88376891T>G,c.1208A>C,p.K403T |