NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg)
|
rs142122029
|
0.00041
|
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)
|
rs150364664
|
0.00022
|
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile)
|
rs202230167
|
0.00021
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu)
|
rs148392950
|
0.00017
|
NM_018418.5(SPATA7):c.1483A>G (p.Ile495Val)
|
rs1284148609
|
0.00016
|
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly)
|
rs376502749
|
0.00014
|
NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys)
|
rs140107720
|
0.00014
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)
|
rs375371982
|
0.00010
|
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala)
|
rs200231959
|
0.00010
|
NM_018418.5(SPATA7):c.1067G>A (p.Arg356His)
|
rs151154007
|
0.00009
|
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe)
|
rs181052380
|
0.00009
|
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr)
|
rs139510848
|
0.00009
|
NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr)
|
rs373779457
|
0.00008
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)
|
rs143812944
|
0.00007
|
NM_018418.5(SPATA7):c.1156A>G (p.Asn386Asp)
|
rs138211483
|
0.00006
|
NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg)
|
rs146142429
|
0.00006
|
NM_018418.5(SPATA7):c.1465A>G (p.Thr489Ala)
|
rs372752890
|
0.00005
|
NM_018418.5(SPATA7):c.814C>T (p.Arg272Trp)
|
rs139404133
|
0.00005
|
NM_018418.5(SPATA7):c.1028+5A>G
|
rs368848333
|
0.00004
|
NM_018418.5(SPATA7):c.1571A>G (p.His524Arg)
|
rs1180389700
|
0.00004
|
NM_018418.5(SPATA7):c.1711A>G (p.Ser571Gly)
|
rs369285856
|
0.00004
|
NM_018418.5(SPATA7):c.206C>T (p.Ser69Leu)
|
rs1416355447
|
0.00004
|
NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu)
|
rs374126653
|
0.00004
|
NM_018418.5(SPATA7):c.539C>T (p.Pro180Leu)
|
rs777633193
|
0.00004
|
NM_018418.5(SPATA7):c.571C>T (p.Arg191Trp)
|
rs768436771
|
0.00004
|
NM_018418.5(SPATA7):c.728G>A (p.Arg243His)
|
rs765697401
|
0.00004
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
NM_018418.5(SPATA7):c.995T>C (p.Ile332Thr)
|
rs534658921
|
0.00004
|
NM_018418.5(SPATA7):c.1225C>T (p.Arg409Cys)
|
rs376584178
|
0.00003
|
NM_018418.5(SPATA7):c.190+3A>G
|
rs756285093
|
0.00003
|
NM_018418.5(SPATA7):c.373-15A>G
|
rs781587897
|
0.00003
|
NM_018418.5(SPATA7):c.553T>C (p.Tyr185His)
|
rs777789357
|
0.00003
|
NM_018418.5(SPATA7):c.646G>A (p.Val216Ile)
|
rs747210887
|
0.00003
|
NM_018418.5(SPATA7):c.878A>C (p.Lys293Thr)
|
rs1013670094
|
0.00003
|
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile)
|
rs767454994
|
0.00003
|
NM_018418.5(SPATA7):c.940A>C (p.Lys314Gln)
|
rs751570128
|
0.00003
|
NM_018418.5(SPATA7):c.1228C>G (p.His410Asp)
|
rs987375960
|
0.00002
|
NM_018418.5(SPATA7):c.1391G>A (p.Arg464His)
|
rs748143898
|
0.00002
|
NM_018418.5(SPATA7):c.1408G>C (p.Ala470Pro)
|
rs375711118
|
0.00002
|
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)
|
rs750676893
|
0.00002
|
NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln)
|
rs199825301
|
0.00002
|
NM_018418.5(SPATA7):c.319A>G (p.Met107Val)
|
rs763053429
|
0.00002
|
NM_018418.5(SPATA7):c.323G>A (p.Arg108Gln)
|
rs370110205
|
0.00002
|
NM_018418.5(SPATA7):c.572G>A (p.Arg191Gln)
|
rs774360285
|
0.00002
|
NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys)
|
rs779315409
|
0.00002
|
NM_018418.5(SPATA7):c.94+5G>A
|
rs371618316
|
0.00002
|
NM_018418.5(SPATA7):c.1003G>A (p.Asp335Asn)
|
rs1383336971
|
0.00001
|
NM_018418.5(SPATA7):c.1035G>A (p.Met345Ile)
|
rs764902056
|
0.00001
|
NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala)
|
rs368604833
|
0.00001
|
NM_018418.5(SPATA7):c.1049T>C (p.Leu350Pro)
|
rs758022550
|
0.00001
|
NM_018418.5(SPATA7):c.1087G>A (p.Glu363Lys)
|
rs1375333872
|
0.00001
|
NM_018418.5(SPATA7):c.1141C>T (p.Leu381Phe)
|
rs770831381
|
0.00001
|
NM_018418.5(SPATA7):c.1180G>A (p.Glu394Lys)
|
rs199649645
|
0.00001
|
NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln)
|
rs202077954
|
0.00001
|
NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu)
|
rs143653250
|
0.00001
|
NM_018418.5(SPATA7):c.1427C>T (p.Ser476Leu)
|
rs545998461
|
0.00001
|
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=)
|
rs140192398
|
0.00001
|
NM_018418.5(SPATA7):c.1447G>A (p.Glu483Lys)
|
rs1322871614
|
0.00001
|
NM_018418.5(SPATA7):c.1477A>T (p.Met493Leu)
|
rs1229447697
|
0.00001
|
NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val)
|
rs745567483
|
0.00001
|
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr)
|
rs886050874
|
0.00001
|
NM_018418.5(SPATA7):c.1687C>T (p.Pro563Ser)
|
rs748651087
|
0.00001
|
NM_018418.5(SPATA7):c.1691C>G (p.Ser564Cys)
|
rs1379615692
|
0.00001
|
NM_018418.5(SPATA7):c.1693C>A (p.Gln565Lys)
|
rs149705437
|
0.00001
|
NM_018418.5(SPATA7):c.1733A>G (p.His578Arg)
|
rs1487429161
|
0.00001
|
NM_018418.5(SPATA7):c.194C>T (p.Ala65Val)
|
rs774821432
|
0.00001
|
NM_018418.5(SPATA7):c.196G>A (p.Val66Ile)
|
rs958554500
|
0.00001
|
NM_018418.5(SPATA7):c.212C>T (p.Pro71Leu)
|
rs373094088
|
0.00001
|
NM_018418.5(SPATA7):c.316G>A (p.Ala106Thr)
|
rs775594191
|
0.00001
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
NM_018418.5(SPATA7):c.382G>A (p.Glu128Lys)
|
rs768713530
|
0.00001
|
NM_018418.5(SPATA7):c.411A>C (p.Lys137Asn)
|
rs772148541
|
0.00001
|
NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu)
|
rs1469531734
|
0.00001
|
NM_018418.5(SPATA7):c.472C>A (p.His158Asn)
|
rs1296975092
|
0.00001
|
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr)
|
rs1177680731
|
0.00001
|
NM_018418.5(SPATA7):c.634C>T (p.Arg212Trp)
|
rs753250204
|
0.00001
|
NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu)
|
rs760214171
|
0.00001
|
NM_018418.5(SPATA7):c.781C>T (p.Pro261Ser)
|
rs771350966
|
0.00001
|
NM_018418.5(SPATA7):c.793A>G (p.Lys265Glu)
|
rs553234090
|
0.00001
|
NM_018418.5(SPATA7):c.845G>A (p.Ser282Asn)
|
rs752125073
|
0.00001
|
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val)
|
rs769211713
|
0.00001
|
NM_018418.5(SPATA7):c.913G>A (p.Ala305Thr)
|
rs1281376963
|
0.00001
|
NM_018418.5(SPATA7):c.999G>C (p.Lys333Asn)
|
rs771016799
|
0.00001
|
NC_000014.8:g.(?_88883035)_(88904766_?)dup
|
|
|
NC_000014.8:g.(?_88903867)_(88904766_?)dup
|
|
|
NC_000014.9:g.(?_88415231)_(88455149_?)dup
|
|
|
NM_018418.5(SPATA7):c.1006G>T (p.Ala336Ser)
|
rs765393196
|
|
NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)
|
|
|
NM_018418.5(SPATA7):c.1057C>T (p.Pro353Ser)
|
|
|
NM_018418.5(SPATA7):c.1069A>G (p.Lys357Glu)
|
rs1468094515
|
|
NM_018418.5(SPATA7):c.1076A>T (p.Tyr359Phe)
|
rs2076931978
|
|
NM_018418.5(SPATA7):c.1078T>A (p.Ser360Thr)
|
rs2140009451
|
|
NM_018418.5(SPATA7):c.1082+3A>G
|
rs2140009484
|
|
NM_018418.5(SPATA7):c.1082+6A>C
|
|
|
NM_018418.5(SPATA7):c.1127A>G (p.Asp376Gly)
|
rs2076985537
|
|
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys)
|
rs776604824
|
|
NM_018418.5(SPATA7):c.1160+5G>T
|
|
|
NM_018418.5(SPATA7):c.1175T>C (p.Leu392Pro)
|
rs2077122465
|
|
NM_018418.5(SPATA7):c.1197A>C (p.Gln399His)
|
|
|
NM_018418.5(SPATA7):c.1204C>T (p.His402Tyr)
|
rs2077124089
|
|
NM_018418.5(SPATA7):c.1215+3T>A
|
|
|
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile)
|
rs886050873
|
|
NM_018418.5(SPATA7):c.1226G>A (p.Arg409His)
|
|
|
NM_018418.5(SPATA7):c.1236G>A (p.Leu412=)
|
rs2077132550
|
|
NM_018418.5(SPATA7):c.123A>T (p.Arg41Ser)
|
|
|
NM_018418.5(SPATA7):c.1252G>A (p.Asp418Asn)
|
|
|
NM_018418.5(SPATA7):c.1252G>C (p.Asp418His)
|
rs776178227
|
|
NM_018418.5(SPATA7):c.1259G>A (p.Gly420Asp)
|
rs1351069069
|
|
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly)
|
rs1203146338
|
|
NM_018418.5(SPATA7):c.1327A>G (p.Lys443Glu)
|
|
|
NM_018418.5(SPATA7):c.1330G>A (p.Ala444Thr)
|
|
|
NM_018418.5(SPATA7):c.1360A>G (p.Asn454Asp)
|
|
|
NM_018418.5(SPATA7):c.1453T>C (p.Phe485Leu)
|
rs1566790849
|
|
NM_018418.5(SPATA7):c.1468G>A (p.Glu490Lys)
|
|
|
NM_018418.5(SPATA7):c.146A>G (p.Lys49Arg)
|
|
|
NM_018418.5(SPATA7):c.1477A>G (p.Met493Val)
|
rs1229447697
|
|
NM_018418.5(SPATA7):c.1485T>G (p.Ile495Met)
|
|
|
NM_018418.5(SPATA7):c.1555A>G (p.Thr519Ala)
|
|
|
NM_018418.5(SPATA7):c.1562A>G (p.Asp521Gly)
|
rs773460135
|
|
NM_018418.5(SPATA7):c.157G>A (p.Ala53Thr)
|
rs2139872972
|
|
NM_018418.5(SPATA7):c.1598A>G (p.Asp533Gly)
|
rs2140031261
|
|
NM_018418.5(SPATA7):c.1611T>C (p.Ser537=)
|
rs1399885444
|
|
NM_018418.5(SPATA7):c.1621A>G (p.Ile541Val)
|
|
|
NM_018418.5(SPATA7):c.1622T>A (p.Ile541Asn)
|
|
|
NM_018418.5(SPATA7):c.1627G>A (p.Gly543Ser)
|
|
|
NM_018418.5(SPATA7):c.1630G>C (p.Asp544His)
|
rs779875860
|
|
NM_018418.5(SPATA7):c.163C>T (p.His55Tyr)
|
rs764520590
|
|
NM_018418.5(SPATA7):c.1648del (p.Val550fs)
|
|
|
NM_018418.5(SPATA7):c.1666T>G (p.Leu556Val)
|
|
|
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=)
|
rs886050875
|
|
NM_018418.5(SPATA7):c.1689del (p.Ser564fs)
|
rs2077149352
|
|
NM_018418.5(SPATA7):c.1715T>A (p.Val572Asp)
|
|
|
NM_018418.5(SPATA7):c.1719A>T (p.Lys573Asn)
|
|
|
NM_018418.5(SPATA7):c.1723G>T (p.Asp575Tyr)
|
rs551066420
|
|
NM_018418.5(SPATA7):c.1730A>G (p.Asn577Ser)
|
|
|
NM_018418.5(SPATA7):c.1750A>G (p.Thr584Ala)
|
rs752698812
|
|
NM_018418.5(SPATA7):c.1775T>C (p.Ile592Thr)
|
rs2140031893
|
|
NM_018418.5(SPATA7):c.227C>G (p.Thr76Ser)
|
|
|
NM_018418.5(SPATA7):c.238+2dup
|
rs2075874938
|
|
NM_018418.5(SPATA7):c.253C>G (p.Arg85Gly)
|
rs140287375
|
|
NM_018418.5(SPATA7):c.256A>G (p.Arg86Gly)
|
rs2139961527
|
|
NM_018418.5(SPATA7):c.265C>T (p.Leu89Phe)
|
|
|
NM_018418.5(SPATA7):c.296A>T (p.Glu99Val)
|
rs2076489402
|
|
NM_018418.5(SPATA7):c.310A>G (p.Lys104Glu)
|
rs200034171
|
|
NM_018418.5(SPATA7):c.311A>G (p.Lys104Arg)
|
rs2076490012
|
|
NM_018418.5(SPATA7):c.314C>A (p.Thr105Asn)
|
rs769850431
|
|
NM_018418.5(SPATA7):c.325G>A (p.Ala109Thr)
|
rs766157792
|
|
NM_018418.5(SPATA7):c.34G>A (p.Val12Ile)
|
rs2139866031
|
|
NM_018418.5(SPATA7):c.361A>G (p.Thr121Ala)
|
|
|
NM_018418.5(SPATA7):c.371A>G (p.Lys124Arg)
|
|
|
NM_018418.5(SPATA7):c.400G>A (p.Asp134Asn)
|
|
|
NM_018418.5(SPATA7):c.401A>G (p.Asp134Gly)
|
rs2139995438
|
|
NM_018418.5(SPATA7):c.409A>G (p.Lys137Glu)
|
|
|
NM_018418.5(SPATA7):c.41C>G (p.Pro14Arg)
|
|
|
NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr)
|
rs2076790068
|
|
NM_018418.5(SPATA7):c.449T>C (p.Leu150Pro)
|
rs2076790271
|
|
NM_018418.5(SPATA7):c.451G>A (p.Val151Ile)
|
|
|
NM_018418.5(SPATA7):c.470T>C (p.Leu157Pro)
|
rs1053255812
|
|
NM_018418.5(SPATA7):c.47A>G (p.Tyr16Cys)
|
|
|
NM_018418.5(SPATA7):c.556G>A (p.Ala186Thr)
|
rs2139996019
|
|
NM_018418.5(SPATA7):c.559G>C (p.Ala187Pro)
|
rs143636395
|
|
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala)
|
rs2075741859
|
|
NM_018418.5(SPATA7):c.565G>C (p.Gly189Arg)
|
rs905542502
|
|
NM_018418.5(SPATA7):c.568C>T (p.Pro190Ser)
|
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys)
|
rs2076795225
|
|
NM_018418.5(SPATA7):c.635G>A (p.Arg212Gln)
|
rs772488728
|
|
NM_018418.5(SPATA7):c.654G>T (p.Ser218=)
|
rs1566779741
|
|
NM_018418.5(SPATA7):c.661C>T (p.Pro221Ser)
|
|
|
NM_018418.5(SPATA7):c.665G>C (p.Ser222Thr)
|
rs781595295
|
|
NM_018418.5(SPATA7):c.670G>T (p.Asp224Tyr)
|
|
|
NM_018418.5(SPATA7):c.745G>A (p.Ala249Thr)
|
rs946409225
|
|
NM_018418.5(SPATA7):c.754T>C (p.Phe252Leu)
|
rs2076800643
|
|
NM_018418.5(SPATA7):c.756C>G (p.Phe252Leu)
|
|
|
NM_018418.5(SPATA7):c.75C>G (p.His25Gln)
|
rs765968462
|
|
NM_018418.5(SPATA7):c.770G>A (p.Arg257His)
|
rs533185075
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NM_018418.5(SPATA7):c.770G>C (p.Arg257Pro)
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rs533185075
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NM_018418.5(SPATA7):c.773A>G (p.Tyr258Cys)
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rs546453565
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NM_018418.5(SPATA7):c.788A>G (p.Lys263Arg)
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NM_018418.5(SPATA7):c.789A>C (p.Lys263Asn)
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rs2139996952
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NM_018418.5(SPATA7):c.794A>G (p.Lys265Arg)
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NM_018418.5(SPATA7):c.808G>T (p.Asp270Tyr)
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rs923955933
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NM_018418.5(SPATA7):c.82A>G (p.Thr28Ala)
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NM_018418.5(SPATA7):c.836C>T (p.Thr279Ile)
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NM_018418.5(SPATA7):c.854C>A (p.Ser285Tyr)
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rs2076832785
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NM_018418.5(SPATA7):c.891_896del (p.Asp297_Ser298del)
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rs2076833726
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NM_018418.5(SPATA7):c.899T>A (p.Met300Lys)
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rs1181075236
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NM_018418.5(SPATA7):c.89G>A (p.Ser30Asn)
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NM_018418.5(SPATA7):c.904A>G (p.Ile302Val)
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rs774986202
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NM_018418.5(SPATA7):c.908A>C (p.Lys303Thr)
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NM_018418.5(SPATA7):c.91A>G (p.Asn31Asp)
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NM_018418.5(SPATA7):c.935A>G (p.Asp312Gly)
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NM_018418.5(SPATA7):c.94+5G>T
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NM_018418.5(SPATA7):c.94+6T>G
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NM_018418.5(SPATA7):c.940A>G (p.Lys314Glu)
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NM_018418.5(SPATA7):c.978_980del (p.Asp326_Ser327delinsGlu)
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rs2140004363
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