NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
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rs36095561
|
0.00385
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
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NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
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NM_002547.3(OPHN1):c.702+11A>C
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rs375325266
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0.00125
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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.2168A>G (p.Asp723Gly)
|
rs374431961
|
0.00011
|
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)
|
rs773508976
|
0.00008
|
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)
|
rs141368794
|
0.00006
|
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)
|
rs192628082
|
0.00006
|
NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu)
|
rs1175919760
|
0.00002
|
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)
|
rs770608210
|
0.00001
|
NM_002547.3(OPHN1):c.1201+3A>G
|
rs1482683297
|
0.00001
|
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)
|
rs771624663
|
0.00001
|
NM_002547.3(OPHN1):c.148A>G (p.Met50Val)
|
rs367993068
|
0.00001
|
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)
|
rs763066236
|
0.00001
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
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NC_000023.11:g.68119248_68212212dup
|
|
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NG_008960.1:g.224486-?_245539+?del
|
|
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NG_008960.1:g.337629_355297del
|
|
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NM_002547.2(OPHN1):c.313_326del
|
|
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NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
|
|
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NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)
|
rs2078892867
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)
|
rs1064795031
|
|
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
|
|
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NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)
|
rs2077140176
|
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NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
|
rs1602169116
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
NM_002547.3(OPHN1):c.1526+1G>A
|
rs2147429591
|
|
NM_002547.3(OPHN1):c.155-2A>C
|
rs1064793755
|
|
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
|
|
|
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)
|
rs1569211016
|
|
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)
|
rs2147404496
|
|
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp)
|
rs2147627388
|
|
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
|
|
|
NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)
|
|
|
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
|
|
|
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)
|
rs137854493
|
|
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)
|
rs866834118
|
|
NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)
|
|
|
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)
|
rs2078108310
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val)
|
rs2076902830
|
|
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
|
|
|
NM_002547.3(OPHN1):c.2159-1G>C
|
rs2147349266
|
|
NM_002547.3(OPHN1):c.2159-4C>T
|
rs587784233
|
|
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
|
|
|
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
|
|
|
NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)
|
|
|
NM_002547.3(OPHN1):c.384+1G>A
|
rs2147594453
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
NM_002547.3(OPHN1):c.597+1del
|
|
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NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
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NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)
|
rs1569244467
|
|
NM_002547.3(OPHN1):c.702+4A>G
|
rs2147481894
|
|
NM_002547.3(OPHN1):c.702+4A>T
|
rs2147481894
|
|
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)
|
rs1569243931
|
|
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)
|
rs2077578419
|
|
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
|
|
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NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
|
|
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NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)
|
|
|
Single allele
|
|
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