| Genename | Variants |
|---|---|
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51348345G>T,c.486+1G>T,p.162Donor |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51347190G>A,c.356G>A,p.R119Q |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51344693T>C,c.128T>C,p.M43T |
| ABHD11(NM_148912,abhydrolase domain containing 11,315aa) | g.7:73153025G>A,c.103C>T,p.P35S |
| ABHD11(NM_148912,abhydrolase domain containing 11,315aa) | g.7:73151600C>T,c.584G>A,p.R195H |
| ABHD11(NM_148912,abhydrolase domain containing 11,315aa) | g.7:73151589G>A,c.595C>T,p.R199X |
| ABHD11(NM_148912,abhydrolase domain containing 11,315aa) | g.7:73151392C>T,c.682G>A,p.G228R |
| ABHD11(NM_148912,abhydrolase domain containing 11,315aa) | g.7:73150995C>T,c.842G>A,p.R281Q |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111709599G>A,c.*10+1G>A,p.3'UTRDonor |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111705142G>A,c.358G>A,p.G120S |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111700790A>G,c.302A>G,p.K101R |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111700766C>T,c.278C>T,p.A93V |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111697987C>T,c.79C>T,p.P27S |
| ABHD10(NM_001272069,abhydrolase domain containing 10,205aa) | g.3:111697931C>A,c.23C>A,p.A8D |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44104954G>A,c.1924G>A,p.A642T |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44104925T>C,c.1895T>C,p.V632A |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44104706C>A,c.1763C>A,p.A588E |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44102516G>A,c.1720G>A,p.G574R |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44102444G>A,c.1648G>A,p.A550T |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44102441G>A,c.1645G>A,p.A549T |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44102291G>A,c.1495G>A,p.G499R |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44100999A>G,c.1285A>G,p.M429V |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44100948C>T,c.1234C>T,p.R412X |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44100927C>T,c.1213C>T,p.R405C |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44099435A>T,c.1201A>T,p.T401S |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44099433C>A,c.1199C>A,p.T400K |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44099394C>T,c.1160C>T,p.P387L |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44099127G>A,c.977G>A,p.S326N |