NM_019098.4(CNGB3):c.*1881T>C
|
rs990193
|
0.91428
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_019098.5(CNGB3):c.643+135A>T
|
rs7815125
|
0.87560
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_019098.4(CNGB3):c.*1639C>A
|
rs990192
|
0.58635
|
NM_019098.5(CNGB3):c.852+55C>T
|
rs3735967
|
0.39180
|
NM_019098.5(CNGB3):c.1481-145A>C
|
rs13258590
|
0.33289
|
NM_019098.4(CNGB3):c.*1638G>A
|
rs28471019
|
0.09998
|
NM_019098.5(CNGB3):c.1320+56G>A
|
rs67463707
|
0.08394
|
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
|
rs3735972
|
0.08214
|
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)
|
rs3735970
|
0.08211
|
NM_019098.5(CNGB3):c.1179-78A>T
|
rs34307542
|
0.07993
|
NM_019098.5(CNGB3):c.493+96C>T
|
rs7823947
|
0.07728
|
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)
|
rs13265557
|
0.05793
|
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)
|
rs34839859
|
0.05572
|
NM_019098.5(CNGB3):c.1179-38T>C
|
rs3735969
|
0.05147
|
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)
|
rs16916632
|
0.05057
|
NM_019098.5(CNGB3):c.1781+10A>T
|
rs7000747
|
0.05032
|
NM_019098.5(CNGB3):c.211+13T>G
|
rs66881636
|
0.04794
|
NC_000008.11:g.86743727A>T
|
rs62622781
|
0.03136
|
NM_019098.5(CNGB3):c.1662+67A>G
|
rs28517318
|
0.02319
|
NM_019098.5(CNGB3):c.*778T>C
|
rs16915859
|
0.01933
|
NM_019098.5(CNGB3):c.*389A>C
|
rs16915861
|
0.01929
|
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)
|
rs114305748
|
0.01886
|
NM_019098.5(CNGB3):c.130-72G>T
|
rs77644889
|
0.01776
|
NM_019098.5(CNGB3):c.211+100T>G
|
rs111555715
|
0.01768
|
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
|
rs35807406
|
0.01728
|
NM_019098.5(CNGB3):c.2103+67C>T
|
rs78742257
|
0.01509
|
NM_019098.5(CNGB3):c.354G>T (p.Pro118=)
|
rs75858066
|
0.01037
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)
|
rs35903042
|
0.00786
|
NM_019098.5(CNGB3):c.212-3T>C
|
rs79126074
|
0.00635
|
NM_019098.5(CNGB3):c.1179-6T>C
|
rs114127590
|
0.00352
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_019098.5(CNGB3):c.1928+18C>T
|
rs190053195
|
0.00200
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=)
|
rs147991883
|
0.00089
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_019098.5(CNGB3):c.494-11T>C
|
rs543970676
|
0.00062
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=)
|
rs112847374
|
0.00039
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_019098.5(CNGB3):c.*997A>G
|
rs141428300
|
0.00014
|
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys)
|
rs200019416
|
0.00013
|
NM_019098.5(CNGB3):c.1480+20G>A
|
rs117375929
|
0.00003
|
GRCh37/hg19 8q21.3(chr8:87664244-87672457)x1
|
|
|
GRCh37/hg19 8q21.3(chr8:87671396-87672457)x1
|
|
|
GRCh37/hg19 8q21.3(chr8:87671396-87673633)x1
|
|
|
NM_019098.4(CNGB3):c.-36T>G
|
rs7812496
|
|
NM_019098.5(CNGB3):c.*1303G>A
|
rs17683284
|
|
NM_019098.5(CNGB3):c.*735A>G
|
rs73269601
|
|
NM_019098.5(CNGB3):c.*915G>C
|
rs189446254
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.130-8dup
|
rs752460731
|
|
NM_019098.5(CNGB3):c.1321-97C>A
|
rs1866907
|
|
NM_019098.5(CNGB3):c.2103+23C>G
|
rs41466745
|
|
NM_019098.5(CNGB3):c.211+17dup
|
rs78198409
|
|
NM_019098.5(CNGB3):c.211+32_211+34del
|
rs78198409
|
|
NM_019098.5(CNGB3):c.211+33_211+34del
|
rs78198409
|
|
NM_019098.5(CNGB3):c.211+34del
|
rs78198409
|
|
NM_019098.5(CNGB3):c.212-6del
|
rs745969238
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.339-10del
|
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019098.5(CNGB3):c.354G>A (p.Pro118=)
|
rs75858066
|
|
NM_019098.5(CNGB3):c.494-11del
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-11dup
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-12_494-11dup
|
rs36008065
|
|