| Genename | Variants |
|---|---|
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73682307A>G,c.7556A>G,p.N2519S |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73680922A>G,c.7265A>G,p.N2422S |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73680847C>A,c.7190C>A,p.T2397N |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73680508G>C,c.6851G>C,p.R2284P |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73680481G>A,c.6824G>A,p.R2275Q |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73680118A>G,c.6461A>G,p.D2154G |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679990T>A,c.6333T>A,p.S2111R |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679956C>T,c.6299C>T,p.S2100L |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679866T>C,c.6209T>C,p.I2070T |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679661A>G,c.6004A>G,p.I2002V |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679482G>A,c.5825G>A,p.R1942H |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679440G>A,c.5783G>A,p.R1928Q |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679280A>G,c.5623A>G,p.I1875V |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73679013A>G,c.5356A>G,p.N1786D |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73678843A>G,c.5186A>G,p.E1729G |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73678630C>A,c.4973C>A,p.P1658Q |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73678616G>T,c.4959G>T,p.K1653N |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73678539C>T,c.4882C>T,p.R1628W |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677983G>T,c.4326G>T,p.L1442F |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677903C>T,c.4246C>T,p.R1416W |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677898G>C,c.4241G>C,p.G1414A |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677882G>C,c.4225G>C,p.A1409P |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677808C>G,c.4151C>G,p.T1384R |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677466C>A,c.3809C>A,p.P1270Q |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73677381G>C,c.3724G>C,p.E1242Q |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676965G>A,c.3308G>A,p.G1103D |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676909G>T,c.3252G>T,p.Q1084H |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676847T>C,c.3190T>C,p.S1064P |