NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)
|
rs386833748
|
0.00001
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)
|
rs386833746
|
|
NM_001378615.1(CC2D2A):c.2339-2A>C
|
rs1719092280
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs)
|
rs386833754
|
|
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs)
|
rs386833756
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp)
|
rs386833758
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
|
rs1720848250
|
|
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)
|
rs762683334
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
NM_001378615.1(CC2D2A):c.4496+2T>A
|
rs386833762
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)
|
rs1577406415
|
|
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)
|
rs1577406415
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs)
|
rs1555293215
|
|
NM_024809.5(TCTN2):c.862_863del (p.Val288fs)
|
rs1955997540
|
|