Genename |
Variants |
APLNR(NM_005161,apelin receptor,380aa) |
g.11:57004322C>T,c.157G>A,p.V53M |
APLNR(NM_005161,apelin receptor,380aa) |
g.11:57004316G>A,c.163C>T,p.R55W |
APLNR(NM_005161,apelin receptor,380aa) |
g.11:57003529C>T,c.950G>A,p.R317H |
APLNR(NM_005161,apelin receptor,380aa) |
g.11:57003481C>A,c.998G>T,p.G333V |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68805143del,c.1525del,p.509fs |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68805014G>A,c.1396G>A,p.D466N |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68794501A>T,c.1315A>T,p.R439X |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68794483C>A,c.1297C>A,p.Q433K |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68794471A>G,c.1287-2A>G,p.429Acceptor |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68772410C>T,c.1252C>T,p.R418W |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68765205C>T,c.1006C>T,p.L336F |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68765173C>G,c.974C>G,p.S325C |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68765135_68765137del,c.936_938del,p.312_313del |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68765093A>G,c.894A>G,p.I298M |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68753273C>T,c.703C>T,p.Q235X |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68753240T>A,c.670T>A,p.S224T |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68740695A>G,c.505A>G,p.N169D |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68729992A>G,c.298A>G,p.I100V |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68729990G>T,c.296G>T,p.R99L |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68729989C>T,c.295C>T,p.R99C |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68729939A>G,c.245A>G,p.Y82C |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68729906A>T,c.212A>T,p.Q71L |
APLF(NM_173545,aprataxin and PNKP like factor,511aa) |
g.2:68717350A>T,c.125A>T,p.H42L |
APIP(NM_015957,APAF1 interacting protein,242aa) |
g.11:34937813G>A,c.19C>T,p.R7W |
APIP(NM_015957,APAF1 interacting protein,242aa) |
g.11:34916657C>T,c.58G>A,p.D20N |
APIP(NM_015957,APAF1 interacting protein,242aa) |
g.11:34912059G>A,c.199C>T,p.R67X |
APIP(NM_015957,APAF1 interacting protein,242aa) |
g.11:34910397C>T,c.227G>A,p.C76Y |
APIP(NM_015957,APAF1 interacting protein,242aa) |
g.11:34910364G>A,c.260C>T,p.S87L |