NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)
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rs41303733
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0.05862
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NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
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rs138108344
|
0.00403
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NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
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rs36095561
|
0.00385
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NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
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rs139691746
|
0.00214
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NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
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rs148262378
|
0.00135
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NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)
|
rs146588152
|
0.00129
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NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
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rs143713841
|
0.00118
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NM_002547.3(OPHN1):c.1506T>A (p.Leu502=)
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rs142413712
|
0.00044
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NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
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rs148208753
|
0.00017
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NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser)
|
rs199985543
|
0.00013
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NM_002547.3(OPHN1):c.12C>G (p.Pro4=)
|
rs139546241
|
0.00012
|
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)
|
rs374431961
|
0.00011
|
NM_002547.3(OPHN1):c.2135G>A (p.Arg712Gln)
|
rs200508660
|
0.00010
|
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)
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rs141368794
|
0.00006
|
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)
|
rs192628082
|
0.00006
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NM_002547.3(OPHN1):c.1800G>T (p.Thr600=)
|
rs372951407
|
0.00005
|
NM_002547.3(OPHN1):c.1512A>C (p.Ile504=)
|
rs745685598
|
0.00004
|
NM_002547.3(OPHN1):c.1669A>G (p.Ile557Val)
|
rs764608956
|
0.00003
|
NM_002547.3(OPHN1):c.1443C>A (p.Arg481=)
|
rs376845562
|
0.00001
|
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly)
|
rs760163301
|
0.00001
|
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter)
|
rs2077499942
|
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NM_002547.3(OPHN1):c.1171A>T (p.Arg391Trp)
|
|
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NM_002547.3(OPHN1):c.1312A>G (p.Ser438Gly)
|
|
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NM_002547.3(OPHN1):c.1362-2A>G
|
rs1569215808
|
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NM_002547.3(OPHN1):c.1479A>G (p.Pro493=)
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|
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NM_002547.3(OPHN1):c.1490G>A (p.Arg497Gln)
|
|
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NM_002547.3(OPHN1):c.1570A>G (p.Met524Val)
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|
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NM_002547.3(OPHN1):c.1788G>T (p.Leu596=)
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|
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NM_002547.3(OPHN1):c.1831G>A (p.Glu611Lys)
|
|
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NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)
|
|
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NM_002547.3(OPHN1):c.2019G>C (p.Leu673Phe)
|
|
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NM_002547.3(OPHN1):c.2024C>T (p.Ser675Phe)
|
|
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NM_002547.3(OPHN1):c.2049G>C (p.Lys683Asn)
|
rs1555930474
|
|
NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)
|
|
|
NM_002547.3(OPHN1):c.2134C>T (p.Arg712Trp)
|
|
|
NM_002547.3(OPHN1):c.2144C>T (p.Ala715Val)
|
|
|
NM_002547.3(OPHN1):c.2185C>T (p.Arg729Trp)
|
|
|
NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)
|
|
|
NM_002547.3(OPHN1):c.234T>C (p.Asp78=)
|
|
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NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)
|
|
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NM_002547.3(OPHN1):c.448C>A (p.His150Asn)
|
|
|
NM_002547.3(OPHN1):c.529T>A (p.Ser177Thr)
|
|
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NM_002547.3(OPHN1):c.56G>A (p.Arg19His)
|
rs1555988278
|
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NM_002547.3(OPHN1):c.705A>C (p.Thr235=)
|
|
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NM_002547.3(OPHN1):c.934-5A>G
|
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