| Genename | Variants |
|---|---|
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211476856C>T,c.2407C>T,p.R803C |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211456646G>T,c.1039G>T,p.A347S |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211456637A>G,c.1030A>G,p.T344A |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211455606C>T,c.923C>T,p.T308I |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211455539C>T,c.856C>T,p.R286C |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211444453G>A,c.487G>A,p.G163R |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211442212G>A,c.449G>A,p.G150E |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211441135T>C,c.302T>C,p.I101T |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:98155335T>C,c.1343T>C,p.M448T |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:98041637G>A,c.968G>A,p.R323H |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97978245G>A,c.932G>A,p.W311X |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97978172G>A,c.859G>A,p.V287I |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97892231C>G,c.847C>G,p.Q283E |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97892119G>A,c.735G>A,p.M245I |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97847377A>G,c.610A>G,p.I204V |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97847356_97847357insT,c.589_590insT,p.197fs |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97847326C>T,c.559C>T,p.R187X |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97847299A>G,c.532A>G,p.I178V |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97847203A>G,c.436A>G,p.I146V |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97797273A>G,c.148A>G,p.I50V |
| CPQ(NM_016134,carboxypeptidase Q,472aa) | g.8:97797144G>T,c.19G>T,p.A7S |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12897578G>T,c.56C>A,p.A19D |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12875153C>T,c.178G>A,p.E60K |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12875134C>T,c.197G>A,p.R66H |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12798902C>A,c.294G>T,p.K98N |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12798894C>T,c.302G>A,p.R101Q |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12798882G>A,c.314C>T,p.T105M |
| CPPED1(NM_018340,calcineurin-like phosphoesterase domain containing 1,314aa) | g.16:12798867C>T,c.329G>A,p.R110Q |