Genename |
Variants |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176857291T>A,c.2990A>T,p.D997V |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176857232_176857233insG,c.3048_3049insC,p.1016fs |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176853612G>A,c.3089C>T,p.T1030M |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176853522C>T,c.3179G>A,p.R1060H |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176852074T>G,c.3283A>C,p.M1095L |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176845768G>A,c.3368C>T,p.T1123M |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176845738C>T,c.3398G>A,p.R1133H |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176833497G>C,c.3808C>G,p.R1270G |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176833486C>G,c.3819G>C,p.R1273S |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176833481G>A,c.3824C>T,p.T1275M |
ASTN1(NM_004319,astrotactin 1,1294aa) |
g.1:176833427T>C,c.3878A>G,p.E1293G |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96801094C>T,c.239G>A,p.R80Q |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96799215A>G,c.404T>C,p.F135S |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96798440C>T,c.476G>A,p.R159H |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96798306G>A,c.610C>T,p.R204C |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96798305C>T,c.611G>A,p.R204H |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96795857T>C,c.665A>G,p.Q222R |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96795608T>G,c.829A>C,p.K277Q |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96789932G>A,c.953C>T,p.A318V |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96789746C>T,c.1139G>A,p.G380D |
ASTL(NM_001002036,astacin-like metallo-endopeptidase (M12 family),431aa) |
g.2:96789650C>T,c.1235G>A,p.S412N |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130744008C>T,c.143G>A,p.R48Q |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130743895C>T,c.256G>A,p.D86N |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130743495G>A,c.656C>T,p.A219V |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130743327T>C,c.824A>G,p.N275S |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130743303del,c.848del,p.283fs |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130733200A>T,c.1741T>A,p.C581S |
ASTE1(NM_014065,asteroid homolog 1 (Drosophila),679aa) |
g.3:130733085A>G,c.1856T>C,p.I619T |