|
NM_018418.5(SPATA7):c.913-23T>G
|
rs386579
|
0.99950
|
|
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
|
rs3179969
|
0.39047
|
|
NM_018418.5(SPATA7):c.20-19T>G
|
rs75595762
|
0.06915
|
|
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)
|
rs10139784
|
0.04245
|
|
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)
|
rs17124677
|
0.03851
|
|
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)
|
rs61747004
|
0.03845
|
|
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)
|
rs35137272
|
0.03845
|
|
NM_018418.5(SPATA7):c.94+20C>T
|
rs17124616
|
0.03841
|
|
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)
|
rs17124662
|
0.03831
|
|
NM_018418.5(SPATA7):c.546T>C (p.Ser182=)
|
rs17124665
|
0.03818
|
|
NM_018418.5(SPATA7):c.191-14C>A
|
rs60770744
|
0.03598
|
|
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)
|
rs112976233
|
0.01543
|
|
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe)
|
rs150093878
|
0.00223
|
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
|
NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)
|
rs138190453
|
0.00201
|
|
NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)
|
rs149478294
|
0.00196
|
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
|
NM_018418.5(SPATA7):c.190+16T>C
|
rs201762735
|
0.00135
|
|
NM_018418.5(SPATA7):c.653C>T (p.Ser218Leu)
|
rs74072095
|
0.00087
|
|
NM_018418.5(SPATA7):c.381C>T (p.Gly127=)
|
rs371280215
|
0.00058
|
|
NM_018418.5(SPATA7):c.1083-17T>C
|
rs377494268
|
0.00047
|
|
NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg)
|
rs142122029
|
0.00041
|
|
NM_018418.5(SPATA7):c.757C>T (p.Leu253=)
|
rs138993523
|
0.00036
|
|
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.345C>T (p.Ser115=)
|
rs754923626
|
0.00019
|
|
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.1020C>T (p.Ser340=)
|
rs554535580
|
0.00014
|
|
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.1290A>G (p.Gln430=)
|
rs1018954437
|
0.00013
|
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
|
NM_018418.5(SPATA7):c.834G>A (p.Gln278=)
|
rs149878757
|
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.1161-9C>T
|
rs370330394
|
0.00006
|
|
NM_018418.5(SPATA7):c.1216-19C>T
|
rs368168750
|
0.00006
|
|
NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg)
|
rs146142429
|
0.00006
|
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
|
NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys)
|
rs868032740
|
0.00005
|
|
NM_018418.5(SPATA7):c.1179C>T (p.Phe393=)
|
rs747253370
|
0.00005
|
|
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)
|
rs766017194
|
0.00005
|
|
NM_018418.5(SPATA7):c.1465A>G (p.Thr489Ala)
|
rs372752890
|
0.00005
|
|
NM_018418.5(SPATA7):c.1722C>T (p.Gly574=)
|
rs763938332
|
0.00005
|
|
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)
|
rs140287375
|
0.00005
|
|
NM_018418.5(SPATA7):c.814C>T (p.Arg272Trp)
|
rs139404133
|
0.00005
|
|
NM_018418.5(SPATA7):c.846-6T>C
|
rs185259226
|
0.00005
|
|
NM_018418.5(SPATA7):c.1028+5A>G
|
rs368848333
|
0.00004
|
|
NM_018418.5(SPATA7):c.1216-20T>G
|
rs758562273
|
0.00004
|
|
NM_018418.5(SPATA7):c.1269G>A (p.Ser423=)
|
rs149387181
|
0.00004
|
|
NM_018418.5(SPATA7):c.1314A>G (p.Val438=)
|
rs751808667
|
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.1215+14T>C
|
rs761025747
|
0.00003
|
|
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.20-12T>C
|
rs747232274
|
0.00003
|
|
NM_018418.5(SPATA7):c.20-18_20-17insC
|
rs760038568
|
0.00003
|
|
NM_018418.5(SPATA7):c.373-12G>A
|
rs367578557
|
0.00003
|
|
NM_018418.5(SPATA7):c.373-15A>G
|
rs781587897
|
0.00003
|
|
NM_018418.5(SPATA7):c.534C>G (p.Ser178=)
|
rs755523674
|
0.00003
|
|
NM_018418.5(SPATA7):c.540G>A (p.Pro180=)
|
rs140956264
|
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.1100A>G (p.Tyr367Cys)
|
rs768788013
|
0.00002
|
|
NM_018418.5(SPATA7):c.1228C>G (p.His410Asp)
|
rs987375960
|
0.00002
|
|
NM_018418.5(SPATA7):c.1373del (p.Val458fs)
|
rs753697847
|
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.288T>A (p.Cys96Ter)
|
rs767745816
|
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.762A>G (p.Ser254=)
|
rs372013193
|
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.94+8A>G
|
rs758877108
|
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.1161-1G>C
|
rs779101498
|
0.00001
|
|
NM_018418.5(SPATA7):c.1180G>A (p.Glu394Lys)
|
rs199649645
|
0.00001
|
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
|
NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln)
|
rs202077954
|
0.00001
|
|
NM_018418.5(SPATA7):c.1266A>G (p.Thr422=)
|
rs370543925
|
0.00001
|
|
NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu)
|
rs143653250
|
0.00001
|
|
NM_018418.5(SPATA7):c.1281G>A (p.Ser427=)
|
rs867885753
|
0.00001
|
|
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)
|
rs2077134911
|
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.1467T>C (p.Thr489=)
|
rs374743640
|
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.1788T>G (p.Pro596=)
|
rs1325875445
|
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.20-1G>A
|
rs554224437
|
0.00001
|
|
NM_018418.5(SPATA7):c.20-9T>C
|
rs2075740665
|
0.00001
|
|
NM_018418.5(SPATA7):c.212C>T (p.Pro71Leu)
|
rs373094088
|
0.00001
|
|
NM_018418.5(SPATA7):c.243A>G (p.Ala81=)
|
rs767275913
|
0.00001
|
|
NM_018418.5(SPATA7):c.252A>G (p.Gln84=)
|
rs910123180
|
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.372+7T>G
|
rs746642029
|
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.447A>T (p.Ser149=)
|
rs200315779
|
0.00001
|
|
NM_018418.5(SPATA7):c.472C>A (p.His158Asn)
|
rs1296975092
|
0.00001
|
|
NM_018418.5(SPATA7):c.618A>G (p.Thr206=)
|
rs576385745
|
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.723T>C (p.Thr241=)
|
rs538508060
|
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.912+10A>G
|
rs1336505648
|
0.00001
|
|
NM_018418.5(SPATA7):c.912+8G>A
|
rs766569562
|
0.00001
|
|
NM_018418.5(SPATA7):c.913-15T>G
|
rs760745265
|
0.00001
|
|
NM_018418.5(SPATA7):c.913G>A (p.Ala305Thr)
|
rs1281376963
|
0.00001
|
|
NM_018418.5(SPATA7):c.930A>G (p.Thr310=)
|
rs757065019
|
0.00001
|
|
NM_018418.5(SPATA7):c.999G>C (p.Lys333Asn)
|
rs771016799
|
0.00001
|
|
NC_000014.8:g.(?_88852143)_(88904786_?)del
|
|
|
|
NC_000014.8:g.(?_88852163)_(88862567_?)del
|
|
|
|
NC_000014.8:g.(?_88852163)_(88904766_?)del
|
|
|
|
NC_000014.8:g.(?_88852163)_(88904766_?)dup
|
|
|
|
NC_000014.8:g.(?_88883035)_(88904766_?)dup
|
|
|
|
NC_000014.8:g.(?_88903867)_(88904766_?)dup
|
|
|
|
NC_000014.9:g.(?_88415231)_(88455149_?)dup
|
|
|
|
NM_018418.4:c.(?_-175)_(238+1_239-1)del
|
|
|
|
NM_018418.5(SPATA7):c.1006G>T (p.Ala336Ser)
|
rs765393196
|
|
|
NM_018418.5(SPATA7):c.102C>T (p.Cys34=)
|
|
|
|
NM_018418.5(SPATA7):c.1032A>G (p.Ala344=)
|
|
|
|
NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)
|
|
|
|
NM_018418.5(SPATA7):c.1057C>T (p.Pro353Ser)
|
|
|
|
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)
|
rs878853385
|
|
|
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.1079_1080del (p.Tyr359_Ser360insTer)
|
|
|
|
NM_018418.5(SPATA7):c.1082+2del
|
|
|
|
NM_018418.5(SPATA7):c.1082+3A>G
|
rs2140009484
|
|
|
NM_018418.5(SPATA7):c.1082+6A>C
|
|
|
|
NM_018418.5(SPATA7):c.1083-10_1083-7del
|
rs768837602
|
|
|
NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)
|
|
|
|
NM_018418.5(SPATA7):c.1093C>T (p.Leu365=)
|
|
|
|
NM_018418.5(SPATA7):c.109T>G (p.Ser37Ala)
|
|
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
|
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer)
|
rs1227147156
|
|
|
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.1155A>C (p.Ser385=)
|
rs1290349206
|
|
|
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs)
|
rs1555370458
|
|
|
NM_018418.5(SPATA7):c.1160+18T>C
|
|
|
|
NM_018418.5(SPATA7):c.1160+5G>T
|
|
|
|
NM_018418.5(SPATA7):c.1161-16T>C
|
|
|
|
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)
|
rs374268850
|
|
|
NM_018418.5(SPATA7):c.1175T>C (p.Leu392Pro)
|
rs2077122465
|
|
|
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter)
|
rs2077123571
|
|
|
NM_018418.5(SPATA7):c.1197A>C (p.Gln399His)
|
|
|
|
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)
|
rs1436269510
|
|
|
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs)
|
rs2077123914
|
|
|
NM_018418.5(SPATA7):c.1204C>T (p.His402Tyr)
|
rs2077124089
|
|
|
NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter)
|
rs749304751
|
|
|
NM_018418.5(SPATA7):c.1212G>A (p.Glu404=)
|
|
|
|
NM_018418.5(SPATA7):c.1215+12C>T
|
|
|
|
NM_018418.5(SPATA7):c.1215+3T>A
|
|
|
|
NM_018418.5(SPATA7):c.1215+7C>A
|
rs201943545
|
|
|
NM_018418.5(SPATA7):c.1215+7C>T
|
|
|
|
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)
|
rs768028061
|
|
|
NM_018418.5(SPATA7):c.1216-4del
|
|
|
|
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile)
|
rs886050873
|
|
|
NM_018418.5(SPATA7):c.1222del (p.Met408fs)
|
|
|
|
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.1241_1252del (p.Val414_Val417del)
|
rs878853386
|
|
|
NM_018418.5(SPATA7):c.1245G>C (p.Leu415=)
|
|
|
|
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.1266A>C (p.Thr422=)
|
rs370543925
|
|
|
NM_018418.5(SPATA7):c.1266A>T (p.Thr422=)
|
rs370543925
|
|
|
NM_018418.5(SPATA7):c.1269G>T (p.Ser423=)
|
rs149387181
|
|
|
NM_018418.5(SPATA7):c.1275A>G (p.Glu425=)
|
|
|
|
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly)
|
rs1203146338
|
|
|
NM_018418.5(SPATA7):c.1284A>G (p.Val428=)
|
|
|
|
NM_018418.5(SPATA7):c.1308G>A (p.Leu436=)
|
|
|
|
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.1361dup (p.Asn454fs)
|
rs2077137130
|
|
|
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
|
|
|
|
NM_018418.5(SPATA7):c.1395del (p.Gln465fs)
|
rs386834243
|
|
|
NM_018418.5(SPATA7):c.1418del (p.Met473fs)
|
|
|
|
NM_018418.5(SPATA7):c.1425G>A (p.Leu475=)
|
|
|
|
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.1545T>G (p.Leu515=)
|
|
|
|
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.1605A>G (p.Glu535=)
|
rs2140031318
|
|
|
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.1632T>C (p.Asp544=)
|
|
|
|
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.1710C>T (p.Ser570=)
|
|
|
|
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.1737C>T (p.Asp579=)
|
|
|
|
NM_018418.5(SPATA7):c.1750A>G (p.Thr584Ala)
|
rs752698812
|
|
|
NM_018418.5(SPATA7):c.1774A>G (p.Ile592Val)
|
|
|
|
NM_018418.5(SPATA7):c.1775T>C (p.Ile592Thr)
|
rs2140031893
|
|
|
NM_018418.5(SPATA7):c.177C>T (p.Ile59=)
|
rs767674908
|
|
|
NM_018418.5(SPATA7):c.190+11G>A
|
|
|
|
NM_018418.5(SPATA7):c.190+12C>A
|
|
|
|
NM_018418.5(SPATA7):c.190+14A>G
|
|
|
|
NM_018418.5(SPATA7):c.191-14C>T
|
|
|
|
NM_018418.5(SPATA7):c.20-12del
|
|
|
|
NM_018418.5(SPATA7):c.20-8G>T
|
rs1226872703
|
|
|
NM_018418.5(SPATA7):c.20_23delTCAG
|
rs527236050
|
|
|
NM_018418.5(SPATA7):c.219C>T (p.Ser73=)
|
|
|
|
NM_018418.5(SPATA7):c.227C>G (p.Thr76Ser)
|
|
|
|
NM_018418.5(SPATA7):c.238+2dup
|
rs2075874938
|
|
|
NM_018418.5(SPATA7):c.238+7A>G
|
rs2139883698
|
|
|
NM_018418.5(SPATA7):c.239-10dup
|
|
|
|
NM_018418.5(SPATA7):c.239-14G>T
|
rs759599766
|
|
|
NM_018418.5(SPATA7):c.239-19G>T
|
|
|
|
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.264A>G (p.Lys88=)
|
|
|
|
NM_018418.5(SPATA7):c.265C>T (p.Leu89Phe)
|
|
|
|
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)
|
rs777346333
|
|
|
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
|
|
|
|
NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg)
|
rs2076488953
|
|
|
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
|
|
|
|
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.322C>A (p.Arg108=)
|
|
|
|
NM_018418.5(SPATA7):c.325G>A (p.Ala109Thr)
|
rs766157792
|
|
|
NM_018418.5(SPATA7):c.345C>G (p.Ser115=)
|
rs754923626
|
|
|
NM_018418.5(SPATA7):c.34G>A (p.Val12Ile)
|
rs2139866031
|
|
|
NM_018418.5(SPATA7):c.361A>G (p.Thr121Ala)
|
|
|
|
NM_018418.5(SPATA7):c.36C>G (p.Val12=)
|
rs770383492
|
|
|
NM_018418.5(SPATA7):c.371A>G (p.Lys124Arg)
|
|
|
|
NM_018418.5(SPATA7):c.372+1G>A
|
|
|
|
NM_018418.5(SPATA7):c.373-6T>G
|
|
|
|
NM_018418.5(SPATA7):c.390A>G (p.Gln130=)
|
rs2076788755
|
|
|
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.418dup (p.Met140fs)
|
rs2139995462
|
|
|
NM_018418.5(SPATA7):c.41C>G (p.Pro14Arg)
|
|
|
|
NM_018418.5(SPATA7):c.441A>G (p.Ala147=)
|
|
|
|
NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr)
|
rs2076790068
|
|
|
NM_018418.5(SPATA7):c.448C>T (p.Leu150=)
|
|
|
|
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.471A>G (p.Leu157=)
|
rs2139995675
|
|
|
NM_018418.5(SPATA7):c.477_478del (p.Leu161fs)
|
|
|
|
NM_018418.5(SPATA7):c.47A>G (p.Tyr16Cys)
|
|
|
|
NM_018418.5(SPATA7):c.507A>G (p.Thr169=)
|
|
|
|
NM_018418.5(SPATA7):c.510T>C (p.Asn170=)
|
|
|
|
NM_018418.5(SPATA7):c.516T>C (p.Pro172=)
|
|
|
|
NM_018418.5(SPATA7):c.516T>G (p.Pro172=)
|
rs143546398
|
|
|
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.564C>T (p.Ser188=)
|
|
|
|
NM_018418.5(SPATA7):c.565G>C (p.Gly189Arg)
|
rs905542502
|
|
|
NM_018418.5(SPATA7):c.567G>A (p.Gly189=)
|
|
|
|
NM_018418.5(SPATA7):c.568C>T (p.Pro190Ser)
|
|
|
|
NM_018418.5(SPATA7):c.570C>G (p.Pro190=)
|
rs762950683
|
|
|
NM_018418.5(SPATA7):c.578_581dup (p.Ser195fs)
|
|
|
|
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.597T>C (p.Tyr199=)
|
|
|
|
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys)
|
rs2076795225
|
|
|
NM_018418.5(SPATA7):c.610A>G (p.Arg204Gly)
|
|
|
|
NM_018418.5(SPATA7):c.61C>T (p.Leu21=)
|
rs760263752
|
|
|
NM_018418.5(SPATA7):c.630C>T (p.Ser210=)
|
rs1227165374
|
|
|
NM_018418.5(SPATA7):c.635G>A (p.Arg212Gln)
|
rs772488728
|
|
|
NM_018418.5(SPATA7):c.654G>A (p.Ser218=)
|
|
|
|
NM_018418.5(SPATA7):c.654G>T (p.Ser218=)
|
rs1566779741
|
|
|
NM_018418.5(SPATA7):c.660A>G (p.Ala220=)
|
|
|
|
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.699_700del (p.Phe233_Ser234insTer)
|
rs567890014
|
|
|
NM_018418.5(SPATA7):c.700dup (p.Ser234fs)
|
rs567890014
|
|
|
NM_018418.5(SPATA7):c.730A>G (p.Thr244Ala)
|
|
|
|
NM_018418.5(SPATA7):c.745G>A (p.Ala249Thr)
|
rs946409225
|
|
|
NM_018418.5(SPATA7):c.751T>G (p.Ser251Ala)
|
|
|
|
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.763C>T (p.Gln255Ter)
|
rs1387058171
|
|
|
NM_018418.5(SPATA7):c.770G>A (p.Arg257His)
|
rs533185075
|
|
|
NM_018418.5(SPATA7):c.770G>C (p.Arg257Pro)
|
rs533185075
|
|
|
NM_018418.5(SPATA7):c.773A>G (p.Tyr258Cys)
|
rs546453565
|
|
|
NM_018418.5(SPATA7):c.777T>C (p.Tyr259=)
|
|
|
|
NM_018418.5(SPATA7):c.788A>G (p.Lys263Arg)
|
|
|
|
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.831C>A (p.Thr277=)
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rs1309684881
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NM_018418.5(SPATA7):c.836C>T (p.Thr279Ile)
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NM_018418.5(SPATA7):c.837T>G (p.Thr279=)
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NM_018418.5(SPATA7):c.845+1G>A
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rs761981554
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NM_018418.5(SPATA7):c.845+9C>T
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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.864del (p.Thr289fs)
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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.901_912+1del
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NM_018418.5(SPATA7):c.903_904del (p.Ile302fs)
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rs1240995964
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NM_018418.5(SPATA7):c.904A>G (p.Ile302Val)
|
rs774986202
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NM_018418.5(SPATA7):c.908A>C (p.Lys303Thr)
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NM_018418.5(SPATA7):c.915A>G (p.Ala305=)
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NM_018418.5(SPATA7):c.915A>T (p.Ala305=)
|
rs2140003993
|
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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+19A>G
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NM_018418.5(SPATA7):c.94+1G>C
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NM_018418.5(SPATA7):c.94+2T>C
|
rs786204787
|
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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.94+6dup
|
rs2139866339
|
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NM_018418.5(SPATA7):c.940A>G (p.Lys314Glu)
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NM_018418.5(SPATA7):c.949dup (p.Ile317fs)
|
rs2140004149
|
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NM_018418.5(SPATA7):c.95-19A>G
|
rs2139872562
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NM_018418.5(SPATA7):c.954T>C (p.Ala318=)
|
rs2140004195
|
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NM_018418.5(SPATA7):c.960dup (p.Pro321fs)
|
rs386834241
|
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NM_018418.5(SPATA7):c.969_975del (p.Gly324fs)
|
rs2140004287
|
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NM_018418.5(SPATA7):c.978_980del (p.Asp326_Ser327delinsGlu)
|
rs2140004363
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NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
|
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NM_018418.5(SPATA7):c.[388C>T];[657del]
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SPATA7, 3-BP DEL, 1227CAC
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