NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)
|
rs74315503
|
0.00044
|
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr)
|
rs145446060
|
0.00040
|
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys)
|
rs199669486
|
0.00019
|
NM_000268.4(NF2):c.363+19C>A
|
rs202225081
|
0.00016
|
NM_000268.4(NF2):c.1505G>A (p.Gly502Asp)
|
rs552115565
|
0.00012
|
NM_000268.4(NF2):c.1000-16T>C
|
rs201183251
|
0.00011
|
NM_000268.4(NF2):c.771G>A (p.Pro257=)
|
rs759032771
|
0.00010
|
NM_000268.4(NF2):c.1206C>T (p.Ala402=)
|
rs137953976
|
0.00009
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00009
|
NM_000268.4(NF2):c.48G>A (p.Arg16=)
|
rs774973059
|
0.00008
|
NM_000268.4(NF2):c.1392G>A (p.Ala464=)
|
rs375819833
|
0.00006
|
NM_000268.4(NF2):c.1455C>T (p.Asn485=)
|
rs368966931
|
0.00006
|
NM_000268.4(NF2):c.354C>T (p.Phe118=)
|
rs756564761
|
0.00006
|
NM_000268.4(NF2):c.1698C>T (p.Ser566=)
|
rs751987156
|
0.00005
|
NM_000268.4(NF2):c.599+17G>A
|
rs759475738
|
0.00005
|
NM_000268.4(NF2):c.1000-7C>G
|
rs776237839
|
0.00004
|
NM_000268.4(NF2):c.1248G>A (p.Ala416=)
|
rs759993776
|
0.00004
|
NM_000268.4(NF2):c.1446+10G>C
|
rs563968726
|
0.00004
|
NM_000268.4(NF2):c.1575-5G>A
|
rs199622889
|
0.00004
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00004
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
NM_000268.4(NF2):c.364-9T>C
|
rs767658752
|
0.00004
|
NM_000268.4(NF2):c.459C>T (p.Tyr153=)
|
rs142972020
|
0.00004
|
NM_000268.4(NF2):c.576C>T (p.Tyr192=)
|
rs149803133
|
0.00004
|
NM_000268.4(NF2):c.1123-18G>C
|
rs1439195208
|
0.00003
|
NM_000268.4(NF2):c.1257G>A (p.Thr419=)
|
rs375969005
|
0.00003
|
NM_000268.4(NF2):c.676-20T>C
|
rs187831823
|
0.00003
|
NM_000268.4(NF2):c.705A>C (p.Gly235=)
|
rs749331641
|
0.00003
|
NM_000268.4(NF2):c.783C>T (p.Ile261=)
|
rs765223726
|
0.00003
|
NM_000268.4(NF2):c.810+8_810+9del
|
rs760095910
|
0.00003
|
NM_000268.4(NF2):c.912T>C (p.His304=)
|
rs200272173
|
0.00003
|
NM_000268.4(NF2):c.939C>T (p.Ala313=)
|
rs747526252
|
0.00003
|
NM_000268.4(NF2):c.1000-5C>T
|
rs763266359
|
0.00002
|
NM_000268.4(NF2):c.1053C>T (p.Arg351=)
|
rs1179494821
|
0.00002
|
NM_000268.4(NF2):c.1077G>A (p.Arg359=)
|
rs878853923
|
0.00002
|
NM_000268.4(NF2):c.1212G>A (p.Glu404=)
|
rs748403377
|
0.00002
|
NM_000268.4(NF2):c.1299C>T (p.Ala433=)
|
rs749028891
|
0.00002
|
NM_000268.4(NF2):c.1340+14G>A
|
rs776008972
|
0.00002
|
NM_000268.4(NF2):c.1488A>C (p.Pro496=)
|
rs1310563343
|
0.00002
|
NM_000268.4(NF2):c.1500C>T (p.Leu500=)
|
rs758182356
|
0.00002
|
NM_000268.4(NF2):c.1575-6C>T
|
rs1350177470
|
0.00002
|
NM_000268.4(NF2):c.1737+12C>T
|
rs1556003806
|
0.00002
|
NM_000268.4(NF2):c.1738-19C>A
|
rs958907803
|
0.00002
|
NM_000268.4(NF2):c.599+3G>A
|
rs768301915
|
0.00002
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
NM_000268.4(NF2):c.651C>T (p.Tyr217=)
|
rs367802186
|
0.00002
|
NM_000268.4(NF2):c.676-12T>C
|
rs1273140767
|
0.00002
|
NM_000268.4(NF2):c.676-9G>T
|
rs372014704
|
0.00002
|
NM_000268.4(NF2):c.699G>T (p.Leu233=)
|
rs780003734
|
0.00002
|
NM_000268.4(NF2):c.795G>A (p.Ser265=)
|
rs376609988
|
0.00002
|
NM_000268.4(NF2):c.861C>T (p.Ser287=)
|
rs143160499
|
0.00002
|
NM_000268.4(NF2):c.1000-4G>A
|
rs200113152
|
0.00001
|
NM_000268.4(NF2):c.1017C>T (p.Leu339=)
|
rs756568857
|
0.00001
|
NM_000268.4(NF2):c.1032G>A (p.Gln344=)
|
rs1431506727
|
0.00001
|
NM_000268.4(NF2):c.1056G>A (p.Thr352=)
|
rs145427713
|
0.00001
|
NM_000268.4(NF2):c.1116A>G (p.Glu372=)
|
rs2066806303
|
0.00001
|
NM_000268.4(NF2):c.1123-17A>G
|
rs1201867877
|
0.00001
|
NM_000268.4(NF2):c.1128G>C (p.Arg376=)
|
rs757322524
|
0.00001
|
NM_000268.4(NF2):c.114+15G>T
|
rs1204686249
|
0.00001
|
NM_000268.4(NF2):c.114+17C>T
|
rs758340243
|
0.00001
|
NM_000268.4(NF2):c.114+18C>G
|
rs2064719831
|
0.00001
|
NM_000268.4(NF2):c.114+19C>G
|
rs551869962
|
0.00001
|
NM_000268.4(NF2):c.115-15G>T
|
rs748169607
|
0.00001
|
NM_000268.4(NF2):c.115-4G>A
|
rs2065657756
|
0.00001
|
NM_000268.4(NF2):c.1173C>T (p.Thr391=)
|
rs769454739
|
0.00001
|
NM_000268.4(NF2):c.1209A>C (p.Ala403=)
|
rs1026655770
|
0.00001
|
NM_000268.4(NF2):c.1215T>G (p.Ala405=)
|
rs772219612
|
0.00001
|
NM_000268.4(NF2):c.1273C>T (p.Leu425=)
|
rs142446775
|
0.00001
|
NM_000268.4(NF2):c.1290G>A (p.Val430=)
|
rs756041768
|
0.00001
|
NM_000268.4(NF2):c.1311A>G (p.Ala437=)
|
rs144628209
|
0.00001
|
NM_000268.4(NF2):c.1350G>A (p.Glu450=)
|
rs1231236846
|
0.00001
|
NM_000268.4(NF2):c.135C>T (p.Asp45=)
|
rs752664255
|
0.00001
|
NM_000268.4(NF2):c.1413G>A (p.Lys471=)
|
rs1323009570
|
0.00001
|
NM_000268.4(NF2):c.1425T>A (p.Ile475=)
|
rs774818801
|
0.00001
|
NM_000268.4(NF2):c.1440G>A (p.Thr480=)
|
rs774373946
|
0.00001
|
NM_000268.4(NF2):c.1443C>T (p.Tyr481=)
|
rs760224815
|
0.00001
|
NM_000268.4(NF2):c.1446+5G>A
|
rs367829184
|
0.00001
|
NM_000268.4(NF2):c.1446+9G>A
|
rs778709917
|
0.00001
|
NM_000268.4(NF2):c.1447-18G>A
|
rs774871889
|
0.00001
|
NM_000268.4(NF2):c.1447-19C>T
|
rs769222192
|
0.00001
|
NM_000268.4(NF2):c.1470G>T (p.Pro490=)
|
rs373442542
|
0.00001
|
NM_000268.4(NF2):c.1509C>T (p.Asp503=)
|
rs2067025973
|
0.00001
|
NM_000268.4(NF2):c.1518T>A (p.Ser506=)
|
rs780287551
|
0.00001
|
NM_000268.4(NF2):c.1548G>T (p.Arg516=)
|
rs534398531
|
0.00001
|
NM_000268.4(NF2):c.1569A>G (p.Lys523=)
|
rs1194010738
|
0.00001
|
NM_000268.4(NF2):c.1574+10C>T
|
rs1469555294
|
0.00001
|
NM_000268.4(NF2):c.1574+11C>A
|
rs772457573
|
0.00001
|
NM_000268.4(NF2):c.1574+11C>T
|
rs772457573
|
0.00001
|
NM_000268.4(NF2):c.1575-13C>T
|
rs758788881
|
0.00001
|
NM_000268.4(NF2):c.1575-16A>G
|
rs753266591
|
0.00001
|
NM_000268.4(NF2):c.162G>A (p.Leu54=)
|
rs1369726524
|
0.00001
|
NM_000268.4(NF2):c.1638C>T (p.Ile546=)
|
rs774264046
|
0.00001
|
NM_000268.4(NF2):c.1671T>C (p.Ala557=)
|
rs759780271
|
0.00001
|
NM_000268.4(NF2):c.240+16G>A
|
rs776888731
|
0.00001
|
NM_000268.4(NF2):c.240+18T>A
|
rs759889778
|
0.00001
|
NM_000268.4(NF2):c.241-11C>T
|
rs1440173583
|
0.00001
|
NM_000268.4(NF2):c.241-14C>G
|
rs775172700
|
0.00001
|
NM_000268.4(NF2):c.241-5T>C
|
rs1378725834
|
0.00001
|
NM_000268.4(NF2):c.279C>T (p.Thr93=)
|
rs758722464
|
0.00001
|
NM_000268.4(NF2):c.318A>G (p.Glu106=)
|
rs535626069
|
0.00001
|
NM_000268.4(NF2):c.363+11C>G
|
rs780429668
|
0.00001
|
NM_000268.4(NF2):c.364-12T>C
|
rs200429883
|
0.00001
|
NM_000268.4(NF2):c.364-15_364-14insC
|
rs780097279
|
0.00001
|
NM_000268.4(NF2):c.364-5T>C
|
rs1330676517
|
0.00001
|
NM_000268.4(NF2):c.432C>T (p.Tyr144=)
|
rs1060503667
|
0.00001
|
NM_000268.4(NF2):c.435C>T (p.Ala145=)
|
rs955424447
|
0.00001
|
NM_000268.4(NF2):c.448-16C>A
|
rs947197160
|
0.00001
|
NM_000268.4(NF2):c.531T>C (p.Tyr177=)
|
rs780880330
|
0.00001
|
NM_000268.4(NF2):c.543G>A (p.Pro181=)
|
rs139838280
|
0.00001
|
NM_000268.4(NF2):c.57C>G (p.Pro19=)
|
rs541641232
|
0.00001
|
NM_000268.4(NF2):c.599+14A>G
|
rs776695678
|
0.00001
|
NM_000268.4(NF2):c.600-14C>T
|
rs376980938
|
0.00001
|
NM_000268.4(NF2):c.600-6C>T
|
rs749155274
|
0.00001
|
NM_000268.4(NF2):c.600-8C>T
|
rs1052474320
|
0.00001
|
NM_000268.4(NF2):c.675+16T>C
|
rs899882527
|
0.00001
|
NM_000268.4(NF2):c.687C>A (p.Gly229=)
|
rs1339795250
|
0.00001
|
NM_000268.4(NF2):c.720G>T (p.Gly240=)
|
rs769348972
|
0.00001
|
NM_000268.4(NF2):c.726C>T (p.His242=)
|
rs1480040681
|
0.00001
|
NM_000268.4(NF2):c.72G>A (p.Val24=)
|
rs761062232
|
0.00001
|
NM_000268.4(NF2):c.72G>C (p.Val24=)
|
rs761062232
|
0.00001
|
NM_000268.4(NF2):c.738T>C (p.Pro246=)
|
rs147665163
|
0.00001
|
NM_000268.4(NF2):c.762C>A (p.Ile254=)
|
rs765985886
|
0.00001
|
NM_000268.4(NF2):c.798C>T (p.Tyr266=)
|
rs917257652
|
0.00001
|
NM_000268.4(NF2):c.810+8A>G
|
rs1433160885
|
0.00001
|
NM_000268.4(NF2):c.826C>T (p.Leu276=)
|
rs764702893
|
0.00001
|
NM_000268.4(NF2):c.852G>A (p.Lys284=)
|
rs1184031479
|
0.00001
|
NM_000268.4(NF2):c.882G>A (p.Lys294=)
|
rs146166875
|
0.00001
|
NM_000268.4(NF2):c.886-19T>G
|
rs374589041
|
0.00001
|
NM_000268.4(NF2):c.886-20G>A
|
rs767370654
|
0.00001
|
NM_000268.4(NF2):c.886-5C>T
|
rs1157713907
|
0.00001
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
NM_000268.4(NF2):c.930A>G (p.Arg310=)
|
rs1408103989
|
0.00001
|
NM_000268.4(NF2):c.946T>C (p.Leu316=)
|
rs1326342694
|
0.00001
|
NM_000268.4(NF2):c.1000-10C>T
|
|
|
NM_000268.4(NF2):c.1000-11A>G
|
rs2147070569
|
|
NM_000268.4(NF2):c.1000-16T>A
|
rs201183251
|
|
NM_000268.4(NF2):c.1000-17T>C
|
|
|
NM_000268.4(NF2):c.1000-7C>A
|
rs776237839
|
|
NM_000268.4(NF2):c.1000-7C>T
|
rs776237839
|
|
NM_000268.4(NF2):c.1000-9C>T
|
rs770827220
|
|
NM_000268.4(NF2):c.1005G>A (p.Glu335=)
|
rs2147070975
|
|
NM_000268.4(NF2):c.1008G>A (p.Arg336=)
|
rs2147071211
|
|
NM_000268.4(NF2):c.1011G>A (p.Gln337=)
|
rs2147071333
|
|
NM_000268.4(NF2):c.1017C>A (p.Leu339=)
|
|
|
NM_000268.4(NF2):c.1020T>C (p.Ala340=)
|
rs1556000130
|
|
NM_000268.4(NF2):c.1029G>A (p.Lys343=)
|
|
|
NM_000268.4(NF2):c.102G>A (p.Glu34=)
|
rs2146661007
|
|
NM_000268.4(NF2):c.1038G>A (p.Arg346=)
|
|
|
NM_000268.4(NF2):c.1050A>G (p.Glu350=)
|
rs2147072412
|
|
NM_000268.4(NF2):c.1059G>A (p.Arg353=)
|
rs1379674036
|
|
NM_000268.4(NF2):c.105C>T (p.Phe35=)
|
rs976153071
|
|
NM_000268.4(NF2):c.1068G>A (p.Leu356=)
|
|
|
NM_000268.4(NF2):c.1074G>A (p.Arg358=)
|
|
|
NM_000268.4(NF2):c.1078C>T (p.Leu360=)
|
rs2066804153
|
|
NM_000268.4(NF2):c.1080G>C (p.Leu360=)
|
rs2066804400
|
|
NM_000268.4(NF2):c.1080_1081delinsTT (p.Leu360_Leu361=)
|
|
|
NM_000268.4(NF2):c.1081C>T (p.Leu361=)
|
rs1299012538
|
|
NM_000268.4(NF2):c.1092A>G (p.Lys364=)
|
rs1601644296
|
|
NM_000268.4(NF2):c.1104A>G (p.Thr368=)
|
rs1601644321
|
|
NM_000268.4(NF2):c.1122+10G>A
|
rs2147074501
|
|
NM_000268.4(NF2):c.1122+15G>A
|
|
|
NM_000268.4(NF2):c.1122+15G>C
|
|
|
NM_000268.4(NF2):c.1122+16del
|
rs2147074604
|
|
NM_000268.4(NF2):c.1122+17T>G
|
|
|
NM_000268.4(NF2):c.1123-11G>A
|
|
|
NM_000268.4(NF2):c.1123-13C>T
|
|
|
NM_000268.4(NF2):c.1123-7C>T
|
|
|
NM_000268.4(NF2):c.1123-9G>A
|
|
|
NM_000268.4(NF2):c.1131T>A (p.Ser377=)
|
|
|
NM_000268.4(NF2):c.1131T>C (p.Ser377=)
|
|
|
NM_000268.4(NF2):c.1134G>A (p.Glu378=)
|
|
|
NM_000268.4(NF2):c.114+10C>G
|
rs1569259897
|
|
NM_000268.4(NF2):c.114+10C>T
|
rs1569259897
|
|
NM_000268.4(NF2):c.114+11G>A
|
|
|
NM_000268.4(NF2):c.114+19C>T
|
|
|
NM_000268.4(NF2):c.114+20G>A
|
rs746868503
|
|
NM_000268.4(NF2):c.114+6dup
|
|
|
NM_000268.4(NF2):c.114+7G>A
|
rs2146661325
|
|
NM_000268.4(NF2):c.114+7G>T
|
|
|
NM_000268.4(NF2):c.1140A>G (p.Thr380=)
|
|
|
NM_000268.4(NF2):c.1149G>A (p.Leu383=)
|
rs2147082336
|
|
NM_000268.4(NF2):c.115-10G>A
|
rs2065657426
|
|
NM_000268.4(NF2):c.115-16T>C
|
|
|
NM_000268.4(NF2):c.115-17T>C
|
|
|
NM_000268.4(NF2):c.115-18A>G
|
|
|
NM_000268.4(NF2):c.115-6T>C
|
rs2146851312
|
|
NM_000268.4(NF2):c.115-7A>T
|
|
|
NM_000268.4(NF2):c.1155T>C (p.Ala385=)
|
rs745717285
|
|
NM_000268.4(NF2):c.1170C>T (p.Ile390=)
|
rs2147082537
|
|
NM_000268.4(NF2):c.1173C>G (p.Thr391=)
|
rs769454739
|
|
NM_000268.4(NF2):c.1179G>A (p.Glu393=)
|
rs1601648277
|
|
NM_000268.4(NF2):c.1191T>G (p.Leu397=)
|
|
|
NM_000268.4(NF2):c.1197C>T (p.Ala399=)
|
rs952523049
|
|
NM_000268.4(NF2):c.1206C>G (p.Ala402=)
|
rs137953976
|
|
NM_000268.4(NF2):c.1209A>G (p.Ala403=)
|
rs1026655770
|
|
NM_000268.4(NF2):c.1218G>A (p.Glu406=)
|
rs2147082887
|
|
NM_000268.4(NF2):c.1236C>T (p.Ile412=)
|
rs2147083077
|
|
NM_000268.4(NF2):c.1242C>T (p.Ala414=)
|
rs1569306011
|
|
NM_000268.4(NF2):c.1245A>G (p.Thr415=)
|
rs2147083167
|
|
NM_000268.4(NF2):c.1248G>T (p.Ala416=)
|
|
|
NM_000268.4(NF2):c.1257G>C (p.Thr419=)
|
rs375969005
|
|
NM_000268.4(NF2):c.1263G>A (p.Glu421=)
|
|
|
NM_000268.4(NF2):c.126A>G (p.Lys42=)
|
rs1601578848
|
|
NM_000268.4(NF2):c.1272C>A (p.Arg424=)
|
rs781241303
|
|
NM_000268.4(NF2):c.1275G>C (p.Leu425=)
|
rs1413652327
|
|
NM_000268.4(NF2):c.1291C>T (p.Leu431=)
|
rs1297186898
|
|
NM_000268.4(NF2):c.1293G>A (p.Leu431=)
|
rs1340711783
|
|
NM_000268.4(NF2):c.129G>A (p.Gly43=)
|
rs2146851832
|
|
NM_000268.4(NF2):c.129G>C (p.Gly43=)
|
|
|
NM_000268.4(NF2):c.1308G>A (p.Leu436=)
|
rs2147083837
|
|
NM_000268.4(NF2):c.1312C>T (p.Leu438=)
|
|
|
NM_000268.4(NF2):c.1317G>A (p.Lys439=)
|
rs1556000937
|
|
NM_000268.4(NF2):c.1323T>A (p.Ala441=)
|
rs1556000942
|
|
NM_000268.4(NF2):c.132G>A (p.Lys44=)
|
rs1224221346
|
|
NM_000268.4(NF2):c.1332A>G (p.Ser444=)
|
rs2147084157
|
|
NM_000268.4(NF2):c.1338G>A (p.Arg446=)
|
|
|
NM_000268.4(NF2):c.1340+13C>T
|
|
|
NM_000268.4(NF2):c.1340+16G>A
|
rs2147084463
|
|
NM_000268.4(NF2):c.1340+19C>T
|
rs2147084493
|
|
NM_000268.4(NF2):c.1340+19_1340+20insTGGCGAG
|
|
|
NM_000268.4(NF2):c.1340+20C>G
|
|
|
NM_000268.4(NF2):c.1340+7_1340+32del
|
|
|
NM_000268.4(NF2):c.1341-10T>G
|
|
|
NM_000268.4(NF2):c.1341-13C>T
|
|
|
NM_000268.4(NF2):c.1341-15A>G
|
|
|
NM_000268.4(NF2):c.1341-15A>T
|
|
|
NM_000268.4(NF2):c.1341-16C>T
|
|
|
NM_000268.4(NF2):c.1341-20A>G
|
|
|
NM_000268.4(NF2):c.1341-5del
|
rs2147091806
|
|
NM_000268.4(NF2):c.1341-8C>T
|
|
|
NM_000268.4(NF2):c.1341G>A (p.Arg447=)
|
rs2066911364
|
|
NM_000268.4(NF2):c.1353A>G (p.Ala451=)
|
rs2147092112
|
|
NM_000268.4(NF2):c.1368G>A (p.Gln456=)
|
|
|
NM_000268.4(NF2):c.1371C>T (p.Asp457=)
|
|
|
NM_000268.4(NF2):c.1383A>C (p.Ala461=)
|
rs2147092772
|
|
NM_000268.4(NF2):c.1383A>G (p.Ala461=)
|
rs2147092772
|
|
NM_000268.4(NF2):c.1389G>A (p.Glu463=)
|
|
|
NM_000268.4(NF2):c.1395G>A (p.Glu465=)
|
rs1556001388
|
|
NM_000268.4(NF2):c.1416C>A (p.Leu472=)
|
|
|
NM_000268.4(NF2):c.1419G>A (p.Leu473=)
|
rs2147093470
|
|
NM_000268.4(NF2):c.1428C>T (p.Ala476=)
|
rs1017011958
|
|
NM_000268.4(NF2):c.1431C>A (p.Thr477=)
|
rs2147093689
|
|
NM_000268.4(NF2):c.1437C>T (p.Pro479=)
|
rs2147093816
|
|
NM_000268.4(NF2):c.1446+1308C>T
|
|
|
NM_000268.4(NF2):c.1446+13G>A
|
|
|
NM_000268.4(NF2):c.1446+16A>G
|
rs2147094287
|
|
NM_000268.4(NF2):c.1446+17C>T
|
|
|
NM_000268.4(NF2):c.1446+18C>T
|
|
|
NM_000268.4(NF2):c.1446+20G>C
|
|
|
NM_000268.4(NF2):c.1446+6C>A
|
rs878853924
|
|
NM_000268.4(NF2):c.1446+7C>A
|
|
|
NM_000268.4(NF2):c.1446+7C>T
|
rs2147094154
|
|
NM_000268.4(NF2):c.1447-11C>G
|
|
|
NM_000268.4(NF2):c.1447-15A>T
|
rs2067021692
|
|
NM_000268.4(NF2):c.1447-20C>A
|
|
|
NM_000268.4(NF2):c.1447-20C>G
|
|
|
NM_000268.4(NF2):c.1447-20C>T
|
rs565129019
|
|
NM_000268.4(NF2):c.1447-7T>C
|
rs1182185192
|
|
NM_000268.4(NF2):c.1447-9C>T
|
|
|
NM_000268.4(NF2):c.145T>C (p.Leu49=)
|
|
|
NM_000268.4(NF2):c.1470G>A (p.Pro490=)
|
rs373442542
|
|
NM_000268.4(NF2):c.1471T>C (p.Leu491=)
|
|
|
NM_000268.4(NF2):c.1482C>T (p.Asp494=)
|
|
|
NM_000268.4(NF2):c.1491C>T (p.Ser497=)
|
rs1556002514
|
|
NM_000268.4(NF2):c.1494C>T (p.Phe498=)
|
rs1060504990
|
|
NM_000268.4(NF2):c.1506T>A (p.Gly502=)
|
|
|
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
|
rs994823423
|
|
NM_000268.4(NF2):c.1524C>T (p.Asp508=)
|
rs2147108553
|
|
NM_000268.4(NF2):c.1527C>T (p.Phe509=)
|
rs2067026804
|
|
NM_000268.4(NF2):c.1533T>C (p.Asp511=)
|
rs1601659271
|
|
NM_000268.4(NF2):c.1546C>A (p.Arg516=)
|
|
|
NM_000268.4(NF2):c.1551T>G (p.Leu517=)
|
rs2147108821
|
|
NM_000268.4(NF2):c.1560G>A (p.Glu520=)
|
rs2147108895
|
|
NM_000268.4(NF2):c.1566G>A (p.Glu522=)
|
rs1178488286
|
|
NM_000268.4(NF2):c.1574+14del
|
|
|
NM_000268.4(NF2):c.1574+16T>A
|
|
|
NM_000268.4(NF2):c.1574+7A>G
|
rs1601659412
|
|
NM_000268.4(NF2):c.1574+8G>A
|
|
|
NM_000268.4(NF2):c.1574+9C>A
|
rs748497894
|
|
NM_000268.4(NF2):c.1575-10T>C
|
|
|
NM_000268.4(NF2):c.1575-15C>A
|
|
|
NM_000268.4(NF2):c.1575-15C>T
|
rs1199533707
|
|
NM_000268.4(NF2):c.1575-17T>A
|
rs2067130584
|
|
NM_000268.4(NF2):c.1575-17T>C
|
|
|
NM_000268.4(NF2):c.1575-19G>T
|
rs2067130502
|
|
NM_000268.4(NF2):c.1575-20T>C
|
|
|
NM_000268.4(NF2):c.1575-5G>T
|
|
|
NM_000268.4(NF2):c.1575-6C>G
|
rs1350177470
|
|
NM_000268.4(NF2):c.1575-7C>T
|
rs2147122210
|
|
NM_000268.4(NF2):c.1599G>A (p.Lys533=)
|
rs2147122478
|
|
NM_000268.4(NF2):c.159T>C (p.Thr53=)
|
|
|
NM_000268.4(NF2):c.1605G>T (p.Leu535=)
|
|
|
NM_000268.4(NF2):c.1617C>T (p.Leu539=)
|
rs1556003665
|
|
NM_000268.4(NF2):c.1632A>G (p.Thr544=)
|
|
|
NM_000268.4(NF2):c.1644C>T (p.Ala548=)
|
rs2147122941
|
|
NM_000268.4(NF2):c.1653G>A (p.Leu551=)
|
rs1601666174
|
|
NM_000268.4(NF2):c.165G>A (p.Gly55=)
|
rs2146852827
|
|
NM_000268.4(NF2):c.1660A>C (p.Arg554=)
|
|
|
NM_000268.4(NF2):c.1665G>A (p.Glu555=)
|
|
|
NM_000268.4(NF2):c.1683G>A (p.Leu561=)
|
rs758955756
|
|
NM_000268.4(NF2):c.1689T>C (p.Asn563=)
|
|
|
NM_000268.4(NF2):c.1707T>C (p.Gly569=)
|
|
|
NM_000268.4(NF2):c.1713C>T (p.Ser571=)
|
|
|
NM_000268.4(NF2):c.1722C>T (p.His574=)
|
rs1041539951
|
|
NM_000268.4(NF2):c.1737+10G>A
|
rs2147123830
|
|
NM_000268.4(NF2):c.1737+10G>T
|
|
|
NM_000268.4(NF2):c.1737+11T>C
|
|
|
NM_000268.4(NF2):c.1737+13del
|
|
|
NM_000268.4(NF2):c.1737+14C>T
|
|
|
NM_000268.4(NF2):c.1737+17_1737+20del
|
|
|
NM_000268.4(NF2):c.1737+8G>A
|
|
|
NM_000268.4(NF2):c.1737+9G>A
|
rs1601666607
|
|
NM_000268.4(NF2):c.1738-10T>C
|
rs2147171593
|
|
NM_000268.4(NF2):c.1738-10T>G
|
rs2147171593
|
|
NM_000268.4(NF2):c.1738-13T>C
|
|
|
NM_000268.4(NF2):c.1738-14C>T
|
|
|
NM_000268.4(NF2):c.1738-16C>A
|
|
|
NM_000268.4(NF2):c.1738-16_1738-14del
|
rs2147171545
|
|
NM_000268.4(NF2):c.1738-17_1738-15del
|
rs770417034
|
|
NM_000268.4(NF2):c.1738-20T>G
|
|
|
NM_000268.4(NF2):c.1743C>T (p.Thr581=)
|
rs768807694
|
|
NM_000268.4(NF2):c.1746G>A (p.Leu582=)
|
|
|
NM_000268.4(NF2):c.1762C>A (p.Arg588=)
|
rs1341371726
|
|
NM_000268.4(NF2):c.1764A>C (p.Arg588=)
|
rs1601688952
|
|
NM_000268.4(NF2):c.1776T>C (p.Phe592=)
|
rs1290530587
|
|
NM_000268.4(NF2):c.1779A>G (p.Glu593=)
|
rs2147171983
|
|
NM_000268.4(NF2):c.177C>G (p.Thr59=)
|
rs757125309
|
|
NM_000268.4(NF2):c.1785C>G (p.Leu595=)
|
rs2147172029
|
|
NM_000268.4(NF2):c.183C>T (p.Phe61=)
|
rs2146853392
|
|
NM_000268.4(NF2):c.186T>C (p.Phe62=)
|
rs373178836
|
|
NM_000268.4(NF2):c.190C>T (p.Leu64=)
|
rs779218238
|
|
NM_000268.4(NF2):c.192G>A (p.Leu64=)
|
|
|
NM_000268.4(NF2):c.201A>G (p.Thr67=)
|
|
|
NM_000268.4(NF2):c.213A>G (p.Thr71=)
|
rs2065662742
|
|
NM_000268.4(NF2):c.216G>C (p.Val72=)
|
rs1601579272
|
|
NM_000268.4(NF2):c.219C>T (p.Ala73=)
|
rs2146854444
|
|
NM_000268.4(NF2):c.240+13C>T
|
|
|
NM_000268.4(NF2):c.240+16G>C
|
|
|
NM_000268.4(NF2):c.240+17A>G
|
rs2146855326
|
|
NM_000268.4(NF2):c.240+18T>C
|
|
|
NM_000268.4(NF2):c.240+18_240+20del
|
|
|
NM_000268.4(NF2):c.240+19G>T
|
rs2146855386
|
|
NM_000268.4(NF2):c.240+7C>G
|
rs763999804
|
|
NM_000268.4(NF2):c.240+7C>T
|
|
|
NM_000268.4(NF2):c.240+8T>C
|
rs2146855110
|
|
NM_000268.4(NF2):c.241-10A>G
|
rs2146869287
|
|
NM_000268.4(NF2):c.241-11C>A
|
|
|
NM_000268.4(NF2):c.241-14C>T
|
|
|
NM_000268.4(NF2):c.241-16C>T
|
|
|
NM_000268.4(NF2):c.241-17G>A
|
|
|
NM_000268.4(NF2):c.241-20T>A
|
rs1373485603
|
|
NM_000268.4(NF2):c.241-4G>C
|
rs2146869357
|
|
NM_000268.4(NF2):c.241-4G>T
|
rs2146869357
|
|
NM_000268.4(NF2):c.243A>C (p.Val81=)
|
rs2146869518
|
|
NM_000268.4(NF2):c.244C>T (p.Leu82=)
|
|
|
NM_000268.4(NF2):c.252T>C (p.His84=)
|
rs374512699
|
|
NM_000268.4(NF2):c.264G>A (p.Lys88=)
|
rs2146870206
|
|
NM_000268.4(NF2):c.276C>A (p.Val92=)
|
rs2065729344
|
|
NM_000268.4(NF2):c.276C>T (p.Val92=)
|
rs2065729344
|
|
NM_000268.4(NF2):c.285C>T (p.His95=)
|
|
|
NM_000268.4(NF2):c.288C>T (p.Phe96=)
|
rs1003303140
|
|
NM_000268.4(NF2):c.289T>C (p.Leu97=)
|
rs2146871004
|
|
NM_000268.4(NF2):c.291G>A (p.Leu97=)
|
|
|
NM_000268.4(NF2):c.294C>G (p.Ala98=)
|
rs1555987671
|
|
NM_000268.4(NF2):c.294C>T (p.Ala98=)
|
rs1555987671
|
|
NM_000268.4(NF2):c.315T>G (p.Ala105=)
|
rs751650863
|
|
NM_000268.4(NF2):c.324G>A (p.Glu108=)
|
|
|
NM_000268.4(NF2):c.336G>A (p.Glu112=)
|
rs2146872481
|
|
NM_000268.4(NF2):c.339C>T (p.Ile113=)
|
rs2065732712
|
|
NM_000268.4(NF2):c.342A>G (p.Thr114=)
|
rs2146872655
|
|
NM_000268.4(NF2):c.351A>G (p.Leu117=)
|
|
|
NM_000268.4(NF2):c.357C>T (p.Phe119=)
|
rs1370689871
|
|
NM_000268.4(NF2):c.363+11C>A
|
rs780429668
|
|
NM_000268.4(NF2):c.363+11C>T
|
|
|
NM_000268.4(NF2):c.363+14G>A
|
|
|
NM_000268.4(NF2):c.363+15G>T
|
rs2146873498
|
|
NM_000268.4(NF2):c.363+16C>T
|
|
|
NM_000268.4(NF2):c.363+19C>T
|
rs202225081
|
|
NM_000268.4(NF2):c.363+7C>T
|
rs2146873349
|
|
NM_000268.4(NF2):c.363+9G>A
|
rs1601583861
|
|
NM_000268.4(NF2):c.364-10C>A
|
rs2065829328
|
|
NM_000268.4(NF2):c.364-10C>G
|
rs2065829328
|
|
NM_000268.4(NF2):c.364-3C>T
|
rs2065829595
|
|
NM_000268.4(NF2):c.364-8C>T
|
rs1601589373
|
|
NM_000268.4(NF2):c.364-8_364-6del
|
rs2146892550
|
|
NM_000268.4(NF2):c.366A>G (p.Val122=)
|
rs750431087
|
|
NM_000268.4(NF2):c.366A>T (p.Val122=)
|
rs750431087
|
|
NM_000268.4(NF2):c.36C>T (p.Ser12=)
|
rs371800843
|
|
NM_000268.4(NF2):c.396C>T (p.Tyr132=)
|
rs749708226
|
|
NM_000268.4(NF2):c.402T>C (p.Pro134=)
|
rs2065830830
|
|
NM_000268.4(NF2):c.402T>G (p.Pro134=)
|
rs2065830830
|
|
NM_000268.4(NF2):c.414T>C (p.Ser138=)
|
rs1601589507
|
|
NM_000268.4(NF2):c.417G>A (p.Val139=)
|
rs2146894145
|
|
NM_000268.4(NF2):c.420C>A (p.Leu140=)
|
rs2146894238
|
|
NM_000268.4(NF2):c.421C>T (p.Leu141=)
|
rs2146894283
|
|
NM_000268.4(NF2):c.42C>G (p.Leu14=)
|
|
|
NM_000268.4(NF2):c.438C>G (p.Val146=)
|
rs2146894870
|
|
NM_000268.4(NF2):c.447+10A>G
|
rs1400540192
|
|
NM_000268.4(NF2):c.447+15_447+17del
|
rs1555988797
|
|
NM_000268.4(NF2):c.447+20A>G
|
|
|
NM_000268.4(NF2):c.447+20A>T
|
|
|
NM_000268.4(NF2):c.447+9A>G
|
|
|
NM_000268.4(NF2):c.448-18_448-17del
|
rs2146966012
|
|
NM_000268.4(NF2):c.448-19C>T
|
rs1236199823
|
|
NM_000268.4(NF2):c.448-20T>C
|
|
|
NM_000268.4(NF2):c.448-3del
|
|
|
NM_000268.4(NF2):c.448-4C>G
|
rs760733256
|
|
NM_000268.4(NF2):c.448-5T>C
|
rs878853928
|
|
NM_000268.4(NF2):c.448-8C>T
|
rs1252727024
|
|
NM_000268.4(NF2):c.453T>G (p.Gly151=)
|
rs2146966325
|
|
NM_000268.4(NF2):c.462C>T (p.Asp154=)
|
|
|
NM_000268.4(NF2):c.468T>C (p.Ser156=)
|
|
|
NM_000268.4(NF2):c.492C>T (p.Ala164=)
|
rs1307586355
|
|
NM_000268.4(NF2):c.495A>G (p.Gln165=)
|
rs1601611991
|
|
NM_000268.4(NF2):c.498G>A (p.Glu166=)
|
|
|
NM_000268.4(NF2):c.501A>G (p.Glu167=)
|
rs1480981635
|
|
NM_000268.4(NF2):c.504G>A (p.Leu168=)
|
rs182990439
|
|
NM_000268.4(NF2):c.516+10T>A
|
|
|
NM_000268.4(NF2):c.516+10T>G
|
rs758073951
|
|
NM_000268.4(NF2):c.516+12A>T
|
|
|
NM_000268.4(NF2):c.516+14T>C
|
|
|
NM_000268.4(NF2):c.516+20T>C
|
|
|
NM_000268.4(NF2):c.516+7G>T
|
rs1670257214
|
|
NM_000268.4(NF2):c.516+9T>C
|
rs2146967586
|
|
NM_000268.4(NF2):c.517-10T>C
|
rs2066277799
|
|
NM_000268.4(NF2):c.517-11T>C
|
|
|
NM_000268.4(NF2):c.517-12A>G
|
|
|
NM_000268.4(NF2):c.517-15T>A
|
|
|
NM_000268.4(NF2):c.517-16C>T
|
|
|
NM_000268.4(NF2):c.517-4G>A
|
rs1165155285
|
|
NM_000268.4(NF2):c.526C>T (p.Leu176=)
|
|
|
NM_000268.4(NF2):c.534G>A (p.Gln178=)
|
|
|
NM_000268.4(NF2):c.540T>C (p.Thr180=)
|
|
|
NM_000268.4(NF2):c.546A>G (p.Glu182=)
|
rs1202105168
|
|
NM_000268.4(NF2):c.555G>A (p.Glu185=)
|
rs1293410909
|
|
NM_000268.4(NF2):c.579A>G (p.Ala193=)
|
rs1332985565
|
|
NM_000268.4(NF2):c.585C>T (p.His195=)
|
rs2146973623
|
|
NM_000268.4(NF2):c.588A>C (p.Arg196=)
|
|
|
NM_000268.4(NF2):c.591C>A (p.Gly197=)
|
|
|
NM_000268.4(NF2):c.594A>T (p.Arg198=)
|
|
|
NM_000268.4(NF2):c.597C>T (p.Ala199=)
|
|
|
NM_000268.4(NF2):c.599+10A>G
|
|
|
NM_000268.4(NF2):c.599+17G>T
|
|
|
NM_000268.4(NF2):c.599+20_599+27dup
|
|
|
NM_000268.4(NF2):c.599+20_599+33dup
|
rs2146974389
|
|
NM_000268.4(NF2):c.599+7C>A
|
rs376965055
|
|
NM_000268.4(NF2):c.599+9del
|
rs2146974204
|
|
NM_000268.4(NF2):c.600-20G>A
|
rs2146988845
|
|
NM_000268.4(NF2):c.609T>C (p.Ala203=)
|
rs2146989324
|
|
NM_000268.4(NF2):c.609T>G (p.Ala203=)
|
|
|
NM_000268.4(NF2):c.624G>A (p.Leu208=)
|
|
|
NM_000268.4(NF2):c.63G>A (p.Thr21=)
|
|
|
NM_000268.4(NF2):c.672C>T (p.Ile224=)
|
rs1298953582
|
|
NM_000268.4(NF2):c.675+11A>G
|
|
|
NM_000268.4(NF2):c.675+12C>T
|
|
|
NM_000268.4(NF2):c.675+17C>G
|
|
|
NM_000268.4(NF2):c.675+18T>A
|
|
|
NM_000268.4(NF2):c.675+18T>C
|
rs2066374470
|
|
NM_000268.4(NF2):c.675+19G>C
|
rs2146991285
|
|
NM_000268.4(NF2):c.676-11del
|
|
|
NM_000268.4(NF2):c.676-18T>C
|
|
|
NM_000268.4(NF2):c.676-19G>A
|
|
|
NM_000268.4(NF2):c.676-4A>G
|
rs2147007478
|
|
NM_000268.4(NF2):c.676-7T>C
|
|
|
NM_000268.4(NF2):c.678T>C (p.Asn226=)
|
|
|
NM_000268.4(NF2):c.693G>A (p.Glu231=)
|
rs1250996695
|
|
NM_000268.4(NF2):c.696G>A (p.Leu232=)
|
rs1477658956
|
|
NM_000268.4(NF2):c.696G>T (p.Leu232=)
|
|
|
NM_000268.4(NF2):c.699G>C (p.Leu233=)
|
rs780003734
|
|
NM_000268.4(NF2):c.69C>A (p.Thr23=)
|
rs2064716137
|
|
NM_000268.4(NF2):c.69C>T (p.Thr23=)
|
rs2064716137
|
|
NM_000268.4(NF2):c.6C>T (p.Ala2=)
|
rs2064712585
|
|
NM_000268.4(NF2):c.702T>C (p.Leu234=)
|
|
|
NM_000268.4(NF2):c.735C>T (p.Asp245=)
|
|
|
NM_000268.4(NF2):c.745A>C (p.Arg249=)
|
rs2147009482
|
|
NM_000268.4(NF2):c.753C>T (p.Thr251=)
|
rs2147009720
|
|
NM_000268.4(NF2):c.759G>A (p.Lys253=)
|
rs760272926
|
|
NM_000268.4(NF2):c.762C>T (p.Ile254=)
|
|
|
NM_000268.4(NF2):c.768C>T (p.Phe256=)
|
rs2147010231
|
|
NM_000268.4(NF2):c.780A>G (p.Glu260=)
|
rs2147010579
|
|
NM_000268.4(NF2):c.789C>T (p.Asn263=)
|
rs1555996218
|
|
NM_000268.4(NF2):c.78C>T (p.Ile26=)
|
rs2064716954
|
|
NM_000268.4(NF2):c.795G>T (p.Ser265=)
|
rs376609988
|
|
NM_000268.4(NF2):c.804C>T (p.Asp268=)
|
|
|
NM_000268.4(NF2):c.807G>A (p.Lys269=)
|
rs2147011393
|
|
NM_000268.4(NF2):c.810+11T>C
|
|
|
NM_000268.4(NF2):c.810+14G>A
|
|
|
NM_000268.4(NF2):c.810+17C>T
|
|
|
NM_000268.4(NF2):c.810+23_810+25del
|
rs765519341
|
|
NM_000268.4(NF2):c.810+7C>T
|
rs2147011639
|
|
NM_000268.4(NF2):c.810+9T>A
|
|
|
NM_000268.4(NF2):c.810+9T>C
|
rs143794864
|
|
NM_000268.4(NF2):c.811-10A>G
|
rs527719826
|
|
NM_000268.4(NF2):c.811-11C>A
|
rs2147033198
|
|
NM_000268.4(NF2):c.811-12T>A
|
rs776342775
|
|
NM_000268.4(NF2):c.811-13T>G
|
|
|
NM_000268.4(NF2):c.811-14C>T
|
|
|
NM_000268.4(NF2):c.813T>C (p.Phe271=)
|
|
|
NM_000268.4(NF2):c.81C>T (p.Val27=)
|
|
|
NM_000268.4(NF2):c.840T>C (p.Ile280=)
|
rs1233245274
|
|
NM_000268.4(NF2):c.849C>T (p.Phe283=)
|
rs1555997567
|
|
NM_000268.4(NF2):c.84C>T (p.Thr28=)
|
rs1410448416
|
|
NM_000268.4(NF2):c.867G>A (p.Lys289=)
|
|
|
NM_000268.4(NF2):c.873T>C (p.Arg291=)
|
rs2147033727
|
|
NM_000268.4(NF2):c.885+10G>C
|
rs369317112
|
|
NM_000268.4(NF2):c.885+9A>C
|
|
|
NM_000268.4(NF2):c.886-18C>T
|
|
|
NM_000268.4(NF2):c.886-20_886-19del
|
rs764324357
|
|
NM_000268.4(NF2):c.886-6C>T
|
|
|
NM_000268.4(NF2):c.886-9del
|
rs2147051508
|
|
NM_000268.4(NF2):c.891C>T (p.Leu297=)
|
rs755253391
|
|
NM_000268.4(NF2):c.897A>G (p.Leu299=)
|
|
|
NM_000268.4(NF2):c.903C>A (p.Ile301=)
|
|
|
NM_000268.4(NF2):c.906G>C (p.Gly302=)
|
|
|
NM_000268.4(NF2):c.909C>T (p.Asn303=)
|
|
|
NM_000268.4(NF2):c.915T>C (p.Asp305=)
|
rs1601636823
|
|
NM_000268.4(NF2):c.916C>T (p.Leu306=)
|
|
|
NM_000268.4(NF2):c.927G>A (p.Arg309=)
|
rs2147052151
|
|
NM_000268.4(NF2):c.939C>A (p.Ala313=)
|
rs747526252
|
|
NM_000268.4(NF2):c.93C>A (p.Ala31=)
|
rs1601516078
|
|
NM_000268.4(NF2):c.942T>C (p.Asp314=)
|
|
|
NM_000268.4(NF2):c.951A>G (p.Glu317=)
|
rs1601636972
|
|
NM_000268.4(NF2):c.966A>G (p.Lys322=)
|
rs746175548
|
|
NM_000268.4(NF2):c.96G>A (p.Glu32=)
|
rs2146660926
|
|
NM_000268.4(NF2):c.978G>A (p.Arg326=)
|
rs1601637089
|
|
NM_000268.4(NF2):c.993A>G (p.Arg331=)
|
rs1601637132
|
|
NM_000268.4(NF2):c.999+12C>G
|
rs1420943143
|
|
NM_000268.4(NF2):c.999+12C>T
|
|
|
NM_000268.4(NF2):c.999+15G>C
|
|
|
NM_000268.4(NF2):c.999+17T>A
|
|
|
NM_000268.4(NF2):c.999+7A>C
|
rs2147053369
|
|
NM_000268.4(NF2):c.9G>A (p.Gly3=)
|
rs1280487219
|
|
NM_000268.4(NF2):c.9G>C (p.Gly3=)
|
rs1280487219
|
|