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.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.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000275.3(OCA2):c.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
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.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_000015.9: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.646+1823_807+678delinsAAA
|
rs1555375711
|
|
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.171del (p.Gln58fs)
|
rs1555391997
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1951+1215G>T
|
|
|
NM_000275.3(OCA2):c.1951+1G>C
|
rs752727398
|
|
NM_000275.3(OCA2):c.1960del (p.Ala654fs)
|
rs387906241
|
|
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.2244+1G>A
|
rs868098120
|
|
NM_000275.3(OCA2):c.646+1G>T
|
rs1046172334
|
|
NM_000275.3(OCA2):c.759del (p.Glu253fs)
|
|
|
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
|
|
|