ADGRG2(GPR64)
Xp22.13
|
rs879255540 |
->T |
Glu [E]>* |
516 |
Congenital
bilateral absence of the vas deferens |
27476656 |
|
|
G>A |
Cys [C]>Tyr [Y] |
570 |
Congenital bilateral absence of the vas deferens |
28805948 |
|
rs879255539 |
CTGTG>AGA |
Leu [L]>Arg
[R] |
668 |
Congenital bilateral absence of the vas deferens |
27476656 |
|
|
C>T |
p.Arg [R]>* |
814 |
Obstructive azoospermia |
30389958 |
|
|
A>T |
p.Lys [K]>* |
818 |
Congenital absence of vas deferens |
30811104 |
|
rs879255538 |
T>- |
Cys [C]>Ala [A] |
949 |
Congenital bilateral absence of the vas deferens |
27476656 |
|
|
A>G |
p.Lys [K]>Glu [E] |
990 |
Congenital bilateral absence of the vas deferens |
28805948 |
|
|
G>A |
p.Arg [R]>Gln [Q] |
1008 |
Congenital absence of vas deferens |
30811104 |
AGTR2
Xq23
|
rs121917810 |
G>T |
Gly [G]>Val [V] |
21 |
X-Linked
Mental Retardation |
14598163
12746399
12089445
|
|
|
T>- |
Phe [F]>Leu [L] |
134 |
not
specified |
23871722 |
|
rs5191 |
G>A |
Arg [R] >Lys [K] |
248 |
not specified |
23757202
16642433
|
LGR4(GPR48)
11p14.1
|
rs587777005 |
C>T |
Arg [R]>* |
126 |
Low bone mineral
density |
23644456 |