NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
|
rs140926412
|
0.00188
|
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)
|
rs118203962
|
0.00041
|
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)
|
rs387906794
|
0.00005
|
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)
|
rs118203960
|
0.00004
|
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
|
rs387906946
|
0.00003
|
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys)
|
rs118203959
|
0.00002
|
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)
|
rs387906911
|
0.00001
|
NM_022369.4(STRA6):c.1521-1G>A
|
rs397518484
|
0.00001
|
NM_022369.4(STRA6):c.1964G>A (p.Arg655His)
|
rs397514639
|
0.00001
|
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter)
|
rs267607096
|
0.00001
|
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu)
|
rs118203958
|
0.00001
|
NM_182894.3(VSX2):c.371-1G>A
|
rs1395124261
|
0.00001
|
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)
|
rs780129844
|
|
NM_000965.5(RARB):c.1159C>A (p.Arg387Ser)
|
rs397518483
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs)
|
rs397518482
|
|
NM_000965.5(RARB):c.355C>T (p.Arg119Ter)
|
rs397518481
|
|
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs)
|
rs587776950
|
|
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)
|
rs387906910
|
|
NM_006744.4(RBP4):c.217G>A (p.Ala73Thr)
|
rs794726862
|
|
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr)
|
rs794726861
|
|
NM_022369.4(STRA6):c.113+3_113+4del
|
rs1555457882
|
|
NM_022369.4(STRA6):c.147del (p.Gly50fs)
|
rs606231125
|
|
NM_022369.4(STRA6):c.1678G>C (p.Asp560His)
|
rs397514638
|
|
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu)
|
rs118203961
|
|
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs)
|
rs1555457919
|
|
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs)
|
rs606231126
|
|
NM_022369.4(STRA6):c.527dup (p.Ser177fs)
|
rs606231127
|
|
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)
|
rs151341424
|
|