Genename |
Variants |
ALOX12B(NM_001139,arachidonate 12-lipoxygenase, 12R type,701aa) |
g.17:7980007C>T,c.1330G>A,p.V444I |
ALOX12B(NM_001139,arachidonate 12-lipoxygenase, 12R type,701aa) |
g.17:7979647C>T,c.1378G>A,p.V460M |
ALOX12B(NM_001139,arachidonate 12-lipoxygenase, 12R type,701aa) |
g.17:7979631C>A,c.1394G>T,p.G465V |
ALOX12B(NM_001139,arachidonate 12-lipoxygenase, 12R type,701aa) |
g.17:7979514G>A,c.1511C>T,p.A504V |
ALOX12B(NM_001139,arachidonate 12-lipoxygenase, 12R type,701aa) |
g.17:7979002G>A,c.1565C>T,p.P522L |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73829370G>A,c.12170G>A,p.R4057H |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73828538G>A,c.12086G>A,p.R4029K |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73828453C>T,c.12001C>T,p.R4001W |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73828346A>T,c.11894A>T,p.E3965V |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73827900A>G,c.11761A>G,p.N3921D |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73826621C>T,c.11638C>T,p.H3880Y |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73800472G>A,c.11465G>A,p.R3822Q |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73800270G>A,c.11263G>A,p.G3755S |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73800058G>A,c.11051G>A,p.S3684N |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73799821G>A,c.10814G>A,p.R3605Q |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73799632C>G,c.10625C>G,p.T3542S |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73786157G>C,c.10269G>C,p.K3423N |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73786123A>G,c.10235A>G,p.E3412G |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73777400A>G,c.9911A>G,p.N3304S |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73762035C>T,c.9863C>T,p.P3288L |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73747095G>A,c.9730G>A,p.A3244T |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73718349A>G,c.9260A>G,p.H3087R |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73718004C>T,c.8915C>T,p.A2972V |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73717921C>G,c.8832C>G,p.N2944K |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73717656A>G,c.8567A>G,p.N2856S |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73717567G>T,c.8478G>T,p.R2826S |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73717103G>C,c.8014G>C,p.D2672H |
ALMS1(NM_015120,Alstrom syndrome 1,4167aa) |
g.2:73716810G>A,c.7721G>A,p.S2574N |