NM_019892.6(INPP5E):c.-239C>G
|
rs562519905
|
0.00588
|
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
NM_019892.6(INPP5E):c.*630G>A
|
rs539039743
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_019892.6(INPP5E):c.*747T>C
|
rs191248562
|
0.00054
|
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)
|
rs138150684
|
0.00033
|
NM_019892.6(INPP5E):c.*811G>A
|
rs778109117
|
0.00031
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_019892.6(INPP5E):c.*235A>G
|
rs376604726
|
0.00020
|
NM_019892.6(INPP5E):c.-347G>A
|
rs886063716
|
0.00016
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_019892.6(INPP5E):c.-271C>T
|
rs886063714
|
0.00011
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)
|
rs200837258
|
0.00007
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)
|
rs201043370
|
0.00006
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
|
rs200223403
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_019892.6(INPP5E):c.*13G>A
|
rs199734968
|
0.00004
|
NM_019892.6(INPP5E):c.*763G>C
|
rs564573606
|
0.00004
|
NM_019892.6(INPP5E):c.-175C>T
|
rs868202242
|
0.00004
|
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
|
rs200033750
|
0.00004
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)
|
rs778210239
|
0.00004
|
NM_019892.6(INPP5E):c.*913T>C
|
rs886063708
|
0.00003
|
NM_019892.6(INPP5E):c.*213C>T
|
rs544203657
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_019892.6(INPP5E):c.1666-12A>G
|
rs372545147
|
0.00002
|
NM_019892.6(INPP5E):c.*721C>T
|
rs886063710
|
0.00001
|
NM_019892.6(INPP5E):c.-41C>T
|
rs1170873095
|
0.00001
|
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)
|
rs780882740
|
0.00001
|
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
|
rs768384414
|
0.00001
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)
|
rs754964359
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_019892.6(INPP5E):c.*484C>G
|
rs1358870988
|
|
NM_019892.6(INPP5E):c.*559C>T
|
rs1835639348
|
|
NM_019892.6(INPP5E):c.*582C>T
|
rs931605716
|
|
NM_019892.6(INPP5E):c.*727C>T
|
rs886063709
|
|
NM_019892.6(INPP5E):c.-149C>T
|
rs1386453934
|
|
NM_019892.6(INPP5E):c.-343T>C
|
rs886063715
|
|
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)
|
rs368235861
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1159+16_1159+33del
|
rs1239490197
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)
|
rs1835733198
|
|
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)
|
rs886063713
|
|
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)
|
|
|
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)
|
rs754015058
|
|
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
|
rs13294000
|
|
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)
|
rs778019120
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)
|
rs1564431175
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)
|
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)
|
rs1586090222
|
|