NM_018297.4(NGLY1):c.492+167G>A
|
rs2101477
|
0.99924
|
NM_018297.4(NGLY1):c.1260+7T>G
|
rs6550987
|
0.81668
|
NM_018297.4(NGLY1):c.1260+110A>G
|
rs1488992
|
0.72185
|
NM_018297.4(NGLY1):c.1425+213A>C
|
rs10780014
|
0.70830
|
NM_018297.4(NGLY1):c.247-77A>G
|
rs11129208
|
0.70695
|
NM_018297.4(NGLY1):c.492+257A>G
|
rs2886127
|
0.64374
|
NM_018297.4(NGLY1):c.1612-277A>T
|
rs2932016
|
0.63898
|
NM_018297.4(NGLY1):c.132-224A>C
|
rs4681074
|
0.63215
|
NM_001145294.2(NGLY1):c.6-5124A>C
|
rs75640939
|
0.12035
|
NM_018297.4(NGLY1):c.246+193A>G
|
rs13073647
|
0.09826
|
NM_018297.4(NGLY1):c.882-96A>G
|
rs34017791
|
0.04787
|
NM_018297.4(NGLY1):c.132-14T>C
|
rs77109827
|
0.04444
|
NM_018297.4(NGLY1):c.659-102A>T
|
rs79623349
|
0.04091
|
NM_018297.4(NGLY1):c.132-274C>A
|
rs181352262
|
0.01640
|
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=)
|
rs73155397
|
0.00539
|
NM_018297.4(NGLY1):c.1261-11A>G
|
rs192062614
|
0.00177
|
NM_018297.4(NGLY1):c.1003+15A>C
|
rs145665993
|
0.00152
|
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe)
|
rs139636452
|
0.00150
|
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=)
|
rs74650888
|
0.00138
|
NM_018297.4(NGLY1):c.246+8T>A
|
rs373747843
|
0.00116
|
NM_018297.4(NGLY1):c.881+8C>T
|
rs143998271
|
0.00072
|
NM_018297.4(NGLY1):c.123C>T (p.Asn41=)
|
rs142425326
|
0.00035
|
NM_018297.4(NGLY1):c.1612-15C>A
|
rs371364572
|
0.00022
|
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile)
|
rs564037973
|
0.00001
|
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser)
|
rs544148699
|
0.00001
|
NM_018297.4(NGLY1):c.1260+240T>A
|
rs1488991
|
|
NM_018297.4(NGLY1):c.1261-13dup
|
|
|
NM_018297.4(NGLY1):c.1261-19del
|
|
|
NM_018297.4(NGLY1):c.1261-19dup
|
|
|
NM_018297.4(NGLY1):c.132-188del
|
rs34966577
|
|
NM_018297.4(NGLY1):c.132-205del
|
rs55749138
|
|
NM_018297.4(NGLY1):c.132-239_132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-252_132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-6dup
|
|
|
NM_018297.4(NGLY1):c.1789+119dup
|
rs5847370
|
|
NM_018297.4(NGLY1):c.1790-12del
|
rs531889481
|
|
NM_018297.4(NGLY1):c.1790-12dup
|
rs531889481
|
|
NM_018297.4(NGLY1):c.1790-13_1790-12dup
|
|
|
NM_018297.4(NGLY1):c.247-18dup
|
rs762803518
|
|
NM_018297.4(NGLY1):c.493-10_493-9dup
|
|
|
NM_018297.4(NGLY1):c.493-19dup
|
rs746574174
|
|
NM_018297.4(NGLY1):c.493-9del
|
rs746574174
|
|
NM_018297.4(NGLY1):c.658+281T>C
|
rs4681032
|
|
NM_018297.4(NGLY1):c.882-14del
|
rs762807225
|
|
NM_018297.4(NGLY1):c.882-14dup
|
rs762807225
|
|