NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
|
rs748798324
|
0.00001
|
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)
|
rs61750161
|
0.00001
|
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)
|
rs281865409
|
0.00001
|
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)
|
rs1403798841
|
0.00001
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1378+1G>A
|
rs1975751307
|
|
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)
|
rs1975768901
|
|
NM_000180.4(GUCY2D):c.1566+2T>C
|
rs61749683
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)
|
rs1975665345
|
|
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)
|
rs63749078
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.1957-1G>T
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)
|
rs1975890613
|
|
NM_000180.4(GUCY2D):c.2263+2T>C
|
rs1975893449
|
|
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)
|
rs281865410
|
|
NM_000180.4(GUCY2D):c.2413-1G>C
|
rs1975923246
|
|
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)
|
rs1341592819
|
|
NM_000180.4(GUCY2D):c.2577-2A>C
|
rs1975931968
|
|
NM_000180.4(GUCY2D):c.2770-1G>C
|
rs1975943461
|
|
NM_000180.4(GUCY2D):c.2770-2A>G
|
rs1975943416
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)
|
rs1975957618
|
|
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)
|
rs281865408
|
|
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)
|
rs281865411
|
|
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)
|
rs1374426388
|
|
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)
|
rs281865409
|
|
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)
|
rs1975675766
|
|
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)
|
rs1975678842
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)
|
rs61749663
|
|
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)
|
rs755999834
|
|