NM_002601.4(PDE6D):c.371+8A>C
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rs75242814
|
0.00367
|
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)
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rs146510084
|
0.00224
|
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn)
|
rs142298615
|
0.00181
|
NM_002601.4(PDE6D):c.140-3C>T
|
rs368073853
|
0.00079
|
NM_002601.4(PDE6D):c.258C>T (p.Cys86=)
|
rs151191604
|
0.00034
|
NM_002601.4(PDE6D):c.201G>A (p.Ser67=)
|
rs764377846
|
0.00006
|
NM_002601.4(PDE6D):c.408C>T (p.Asp136=)
|
rs547505745
|
0.00006
|
NM_002601.4(PDE6D):c.174A>G (p.Ala58=)
|
rs139835658
|
0.00005
|
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
NM_002601.4(PDE6D):c.50+16C>A
|
rs993589615
|
0.00004
|
NM_002601.4(PDE6D):c.363C>T (p.Ser121=)
|
rs1206823310
|
0.00002
|
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala)
|
rs1448692172
|
0.00001
|
NM_002601.4(PDE6D):c.114del (p.Ser39fs)
|
rs772392692
|
0.00001
|
NM_002601.4(PDE6D):c.140-19T>C
|
rs766425103
|
0.00001
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
NM_002601.4(PDE6D):c.405C>T (p.Asp135=)
|
rs373459369
|
0.00001
|
NM_002601.4(PDE6D):c.50+11G>C
|
rs758184957
|
0.00001
|
NM_002601.4(PDE6D):c.50+18G>A
|
rs747869732
|
0.00001
|
NC_000002.11:g.(?_232597662)_(232597763_?)del
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232603918_?)dup
|
|
|
NC_000002.11:g.(?_232645755)_(232645824_?)del
|
|
|
NM_002601.4(PDE6D):c.117T>A (p.Ser39=)
|
rs2106261946
|
|
NM_002601.4(PDE6D):c.126T>G (p.Gly42=)
|
rs2106261935
|
|
NM_002601.4(PDE6D):c.139+14C>G
|
|
|
NM_002601.4(PDE6D):c.139+19T>C
|
|
|
NM_002601.4(PDE6D):c.139+20C>G
|
|
|
NM_002601.4(PDE6D):c.140-1G>A
|
rs587777156
|
|
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
|
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
|
|
NM_002601.4(PDE6D):c.183A>G (p.Arg61=)
|
rs2106261155
|
|
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
|
|
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
|
rs2048708941
|
|
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)
|
rs1023549002
|
|
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
|
|
|
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
|
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_002601.4(PDE6D):c.372-7C>A
|
rs2048664865
|
|
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)
|
rs2106256926
|
|
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
|
|
|
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)
|
rs1366113264
|
|
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
|
|
|
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)
|
rs2106294164
|
|
NM_002601.4(PDE6D):c.50+7G>T
|
rs2106294152
|
|
NM_002601.4(PDE6D):c.51-12A>G
|
|
|
NM_002601.4(PDE6D):c.51-19del
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
NM_002601.4(PDE6D):c.66del (p.Arg23fs)
|
rs2106261987
|
|
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
|
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
|
|