NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
|
rs142988897
|
0.00006
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000275.3(OCA2):c.2338+1G>T
|
rs770635415
|
0.00004
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
|
rs147736385
|
0.00004
|
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)
|
rs772019064
|
0.00003
|
NM_000275.3(OCA2):c.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
NM_000275.3(OCA2):c.440dup (p.Ser148fs)
|
rs1057518192
|
0.00002
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
0.00002
|
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)
|
rs121918168
|
0.00001
|
NM_000275.3(OCA2):c.1044+1G>T
|
rs185504549
|
0.00001
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)
|
rs121918171
|
0.00001
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000275.3(OCA2):c.2225dup (p.Phe744fs)
|
rs2036555943
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NC_000015.10:g.28018399_28018559del
|
rs1555375711
|
|
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
|
|
|
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
|
|
|
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
|
|
|
NM_000275.2(OCA2):c.647-?_807+?del
|
|
|
NM_000275.2(OCA2):c.647-?_890+?del
|
|
|
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)
|
rs1595774445
|
|
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)
|
rs1555392037
|
|
NM_000275.3(OCA2):c.1240-1G>T
|
|
|
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
|
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.1365-1G>A
|
rs2140965742
|
|
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
|
|
|
NM_000275.3(OCA2):c.1450_1451insCTGCCCTGACA (p.Ile484fs)
|
|
|
NM_000275.3(OCA2):c.1637-2A>G
|
rs1595717218
|
|
NM_000275.3(OCA2):c.171del (p.Gln58fs)
|
rs1555391997
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
|
|
|
NM_000275.3(OCA2):c.1841dup (p.His615fs)
|
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1951+1215G>T
|
|
|
NM_000275.3(OCA2):c.1951+1G>A
|
|
|
NM_000275.3(OCA2):c.1951+1G>C
|
rs752727398
|
|
NM_000275.3(OCA2):c.1960del (p.Ala654fs)
|
rs387906241
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
|
|
|
NM_000275.3(OCA2):c.2080-1G>A
|
rs1555422232
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
|
|
|
NM_000275.3(OCA2):c.2244+1G>A
|
rs868098120
|
|
NM_000275.3(OCA2):c.2244+2T>G
|
|
|
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
|
rs987780496
|
|
NM_000275.3(OCA2):c.2433-22889T>A
|
|
|
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.646+1G>T
|
rs1046172334
|
|
NM_000275.3(OCA2):c.759del (p.Glu253fs)
|
|
|
NM_000275.3(OCA2):c.808-3C>G
|
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
|
|
|
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)
|
rs747395624
|
|
Single allele
|
|
|