NM_000080.4(CHRNE):c.*144T>C
|
rs12936083
|
0.46557
|
NM_000080.4(CHRNE):c.*437G>C
|
rs3514
|
0.19221
|
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)
|
rs33978919
|
0.18524
|
NM_000080.4(CHRNE):c.*61C>T
|
rs12940036
|
0.17963
|
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)
|
rs55681486
|
0.07419
|
NM_000080.4(CHRNE):c.*65C>T
|
rs56067981
|
0.07414
|
NM_000080.4(CHRNE):c.*37G>A
|
rs2229199
|
0.03523
|
NM_000080.4(CHRNE):c.*43T>C
|
rs2229200
|
0.03101
|
NM_000080.4(CHRNE):c.*610C>T
|
rs144554248
|
0.01282
|
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)
|
rs114454383
|
0.00816
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_000080.4(CHRNE):c.1220-5G>A
|
rs188564977
|
0.00287
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_000080.4(CHRNE):c.*267C>T
|
rs551251860
|
0.00185
|
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)
|
rs145456588
|
0.00133
|
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=)
|
rs202051373
|
0.00043
|
NM_000080.4(CHRNE):c.*125C>T
|
rs538687901
|
0.00036
|
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser)
|
rs375221757
|
0.00030
|
NM_000080.4(CHRNE):c.*315T>G
|
rs779969688
|
0.00029
|
NM_000080.4(CHRNE):c.*572C>G
|
rs564549054
|
0.00029
|
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=)
|
rs768977197
|
0.00017
|
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=)
|
rs372862723
|
0.00016
|
NM_000080.4(CHRNE):c.1327-3C>T
|
rs749489742
|
0.00014
|
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=)
|
rs372792059
|
0.00009
|
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr)
|
rs780592951
|
0.00009
|
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=)
|
rs751593666
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_000080.4(CHRNE):c.*206G>A
|
rs548395785
|
0.00006
|
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val)
|
rs912512352
|
0.00006
|
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His)
|
rs144952259
|
0.00006
|
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys)
|
rs149083639
|
0.00006
|
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=)
|
rs750097789
|
0.00006
|
NM_000080.4(CHRNE):c.1032+17C>T
|
rs372131102
|
0.00004
|
NM_000080.4(CHRNE):c.1220-6C>T
|
rs56251503
|
0.00004
|
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser)
|
rs372515997
|
0.00004
|
NM_000080.4(CHRNE):c.1332G>C (p.Val444=)
|
rs376975376
|
0.00004
|
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=)
|
rs753202734
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)
|
rs771016534
|
0.00004
|
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)
|
rs377178938
|
0.00004
|
NM_000080.4(CHRNE):c.*597G>A
|
rs886053118
|
0.00003
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)
|
rs200343520
|
0.00003
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg)
|
rs747017964
|
0.00003
|
NM_000080.4(CHRNE):c.991C>A (p.Arg331=)
|
rs121909515
|
0.00003
|
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=)
|
rs1172630871
|
0.00002
|
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met)
|
rs1049573372
|
0.00002
|
NM_000080.4(CHRNE):c.1327-10C>T
|
rs779066933
|
0.00002
|
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter)
|
rs763943642
|
0.00002
|
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=)
|
rs369916656
|
0.00002
|
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)
|
rs575920043
|
0.00002
|
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=)
|
rs950225592
|
0.00002
|
NM_000080.4(CHRNE):c.*366G>A
|
rs551684568
|
0.00001
|
NM_000080.4(CHRNE):c.*38G>A
|
rs755764652
|
0.00001
|
NM_000080.4(CHRNE):c.*556C>T
|
rs886053120
|
0.00001
|
NM_000080.4(CHRNE):c.*5C>T
|
rs747566295
|
0.00001
|
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=)
|
rs747880376
|
0.00001
|
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala)
|
rs1216965153
|
0.00001
|
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=)
|
rs1247241612
|
0.00001
|
NM_000080.4(CHRNE):c.1008C>T (p.His336=)
|
rs768479748
|
0.00001
|
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=)
|
rs778130828
|
0.00001
|
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys)
|
rs1422523453
|
0.00001
|
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp)
|
rs886053125
|
0.00001
|
NM_000080.4(CHRNE):c.1032+8C>T
|
rs755463469
|
0.00001
|
NM_000080.4(CHRNE):c.1032+9G>A
|
rs752020505
|
0.00001
|
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=)
|
rs1047142793
|
0.00001
|
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=)
|
rs1449525013
|
0.00001
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
NM_000080.4(CHRNE):c.1220-4C>T
|
rs201553105
|
0.00001
|
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg)
|
rs753739289
|
0.00001
|
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=)
|
rs1420851295
|
0.00001
|
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)
|
rs754975887
|
0.00001
|
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys)
|
rs369709668
|
0.00001
|
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met)
|
rs780122731
|
0.00001
|
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=)
|
rs750634265
|
0.00001
|
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=)
|
rs1349711476
|
0.00001
|
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met)
|
rs1348466102
|
0.00001
|
NM_000080.4(CHRNE):c.1290G>A (p.Val430=)
|
rs1416247967
|
0.00001
|
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=)
|
rs773970037
|
0.00001
|
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=)
|
rs1486674648
|
0.00001
|
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=)
|
rs1292101958
|
0.00001
|
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=)
|
rs758517310
|
0.00001
|
NM_000080.4(CHRNE):c.1326+9G>A
|
rs1171676082
|
0.00001
|
NM_000080.4(CHRNE):c.1327-20C>T
|
rs1312286883
|
0.00001
|
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=)
|
rs1412855797
|
0.00001
|
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=)
|
rs1374818797
|
0.00001
|
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr)
|
rs1361578187
|
0.00001
|
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=)
|
rs1486567580
|
0.00001
|
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=)
|
rs1207444316
|
0.00001
|
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)
|
rs764935677
|
0.00001
|
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)
|
rs545473686
|
0.00001
|
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)
|
rs1085307690
|
0.00001
|
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=)
|
rs373293781
|
0.00001
|
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val)
|
rs753512613
|
0.00001
|
NM_000080.4(CHRNE):c.972C>T (p.Ile324=)
|
rs1405865454
|
0.00001
|
NM_000080.4(CHRNE):c.981C>T (p.Asn327=)
|
rs958190024
|
0.00001
|
NC_000017.10:g.(?_4802021)_(4802196_?)del
|
|
|
NM_000080.4(CHRNE):c.*24C>T
|
rs371649855
|
|
NM_000080.4(CHRNE):c.*329T>A
|
rs1597611527
|
|
NM_000080.4(CHRNE):c.*383G>A
|
rs886053121
|
|
NM_000080.4(CHRNE):c.*388C>T
|
rs1337870258
|
|
NM_000080.4(CHRNE):c.*590C>T
|
rs886053119
|
|
NM_000080.4(CHRNE):c.*622C>T
|
rs886053117
|
|
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala)
|
|
|
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
|
|
|
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro)
|
|
|
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
|
|
|
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr)
|
|
|
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln)
|
rs768479748
|
|
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=)
|
rs1555546423
|
|
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val)
|
rs200035803
|
|
NM_000080.4(CHRNE):c.1012del (p.Met338fs)
|
rs2151095155
|
|
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000080.4(CHRNE):c.1016_1032+2dup
|
|
|
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=)
|
rs114454383
|
|
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)
|
rs1019584942
|
|
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
|
|
|
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp)
|
rs1597615227
|
|
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln)
|
|
|
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
|
|
|
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro)
|
rs1230039635
|
|
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=)
|
rs2151095114
|
|
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)
|
|
|
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)
|
|
|
NM_000080.4(CHRNE):c.1030del (p.His344fs)
|
rs879253723
|
|
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg)
|
|
|
NM_000080.4(CHRNE):c.1032+10G>A
|
rs2151095067
|
|
NM_000080.4(CHRNE):c.1032+10G>C
|
|
|
NM_000080.4(CHRNE):c.1032+11A>G
|
|
|
NM_000080.4(CHRNE):c.1032+12G>A
|
|
|
NM_000080.4(CHRNE):c.1032+12_1032+13insC
|
|
|
NM_000080.4(CHRNE):c.1032+13G>C
|
|
|
NM_000080.4(CHRNE):c.1032+14G>A
|
|
|
NM_000080.4(CHRNE):c.1032+14G>C
|
|
|
NM_000080.4(CHRNE):c.1032+18G>A
|
|
|
NM_000080.4(CHRNE):c.1032+1G>A
|
rs1458613529
|
|
NM_000080.4(CHRNE):c.1032+1G>C
|
|
|
NM_000080.4(CHRNE):c.1032+20T>G
|
|
|
NM_000080.4(CHRNE):c.1032+3A>C
|
|
|
NM_000080.4(CHRNE):c.1032+7G>A
|
|
|
NM_000080.4(CHRNE):c.1032+9G>C
|
|
|
NM_000080.4(CHRNE):c.1032+9G>T
|
rs752020505
|
|
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>T (p.His344=)
|
|
|
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=)
|
rs1226276974
|
|
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
|
|
|
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala)
|
rs1555546304
|
|
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter)
|
rs768869197
|
|
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
|
|
|
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
|
|
|
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
|
|
|
NM_000080.4(CHRNE):c.1220-10del
|
|
|
NM_000080.4(CHRNE):c.1220-14G>A
|
|
|
NM_000080.4(CHRNE):c.1220-14_1220-3dup
|
|
|
NM_000080.4(CHRNE):c.1220-15T>C
|
|
|
NM_000080.4(CHRNE):c.1220-16G>A
|
|
|
NM_000080.4(CHRNE):c.1220-18C>T
|
|
|
NM_000080.4(CHRNE):c.1220-19C>A
|
|
|
NM_000080.4(CHRNE):c.1220-1G>C
|
rs373710822
|
|
NM_000080.4(CHRNE):c.1220-20C>A
|
|
|
NM_000080.4(CHRNE):c.1220-2A>C
|
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1220-3C>T
|
|
|
NM_000080.4(CHRNE):c.1220-4C>A
|
|
|
NM_000080.4(CHRNE):c.1220-4C>G
|
rs201553105
|
|
NM_000080.4(CHRNE):c.1220-5G>T
|
|
|
NM_000080.4(CHRNE):c.1220-6C>G
|
|
|
NM_000080.4(CHRNE):c.1220-6_1227del
|
rs1567635954
|
|
NM_000080.4(CHRNE):c.1220-7C>G
|
|
|
NM_000080.4(CHRNE):c.1220-8_1227dup
|
rs2151094080
|
|
NM_000080.4(CHRNE):c.1220-9C>G
|
rs748607118
|
|
NM_000080.4(CHRNE):c.1222G>A (p.Ala408Thr)
|
rs1202290550
|
|
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly)
|
rs778624148
|
|
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter)
|
rs1969839736
|
|
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=)
|
rs2151094069
|
|
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
|
|
|
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
|
|
|
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=)
|
rs1969839608
|
|
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
|
|
|
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
|
|
|
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=)
|
rs966410323
|
|
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
|
|
|
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)
|
rs781774131
|
|
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
|
|
|
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=)
|
rs2151094028
|
|
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs)
|
rs748694848
|
|
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro)
|
|
|
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
|
rs1597613479
|
|
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
|
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter)
|
rs754975887
|
|
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
|
|
|
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
|
|
|
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly)
|
|
|
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=)
|
rs994146259
|
|
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs)
|
rs2151093952
|
|
NM_000080.4(CHRNE):c.1281G>A (p.Val427=)
|
rs2151093968
|
|
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr)
|
|
|
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
|
rs1969834618
|
|
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
|
|
|
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs)
|
rs1194524772
|
|
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
|
|
|
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
|
|
|
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu)
|
|
|
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
|
|
|
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp)
|
|
|
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
|
|
|
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala)
|
|
|
NM_000080.4(CHRNE):c.1319_1326+15del
|
rs1208462125
|
|
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=)
|
rs1292101958
|
|
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)
|
rs1597613302
|
|
NM_000080.4(CHRNE):c.1326+13_1326+32del
|
rs780277856
|
|
NM_000080.4(CHRNE):c.1326+14C>T
|
|
|
NM_000080.4(CHRNE):c.1326+18G>A
|
|
|
NM_000080.4(CHRNE):c.1326+1G>A
|
rs1430654625
|
|
NM_000080.4(CHRNE):c.1326+20C>A
|
|
|
NM_000080.4(CHRNE):c.1326+2T>C
|
rs1597613279
|
|
NM_000080.4(CHRNE):c.1326+6A>C
|
rs886053122
|
|
NM_000080.4(CHRNE):c.1326+7C>T
|
|
|
NM_000080.4(CHRNE):c.1327-14C>G
|
|
|
NM_000080.4(CHRNE):c.1327-14C>T
|
|
|
NM_000080.4(CHRNE):c.1327-17_1327-16del
|
rs774197166
|
|
NM_000080.4(CHRNE):c.1327-18G>C
|
|
|
NM_000080.4(CHRNE):c.1327-21_1327-18del
|
|
|
NM_000080.4(CHRNE):c.1327-4C>G
|
rs2151093603
|
|
NM_000080.4(CHRNE):c.1327-5C>A
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-5C>T
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-6C>T
|
|
|
NM_000080.4(CHRNE):c.1327-6dup
|
rs770570480
|
|
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
|
|
|
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
|
|
|
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu)
|
|
|
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
|
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala)
|
rs1969824493
|
|
NM_000080.4(CHRNE):c.1344G>A (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1344G>C (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser)
|
rs149083639
|
|
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile)
|
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val)
|
|
|
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
|
|
|
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn)
|
|
|
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)
|
rs748289906
|
|
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=)
|
rs1969823137
|
|
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)
|
rs1597612665
|
|
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys)
|
|
|
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)
|
|
|
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)
|
rs1555546096
|
|
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)
|
|
|
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val)
|
|
|
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
|
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
|
|
|
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
|
|
|
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
|
|
|
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
|
|
|
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1402G>T (p.Val468Leu)
|
|
|
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
|
|
|
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val)
|
rs1346830083
|
|
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=)
|
rs2151093451
|
|
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
|
|
|
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
|
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=)
|
rs763943642
|
|
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser)
|
rs760738362
|
|
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)
|
|
|
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter)
|
rs775550642
|
|
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)
|
rs2151093399
|
|
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)
|
|
|
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)
|
rs1969817843
|
|
NM_000080.4(CHRNE):c.1461C>A (p.Tyr487Ter)
|
|
|
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)
|
|
|
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=)
|
rs950225592
|
|
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
|
|
|
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
|
|
|
NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln)
|
rs972956416
|
|
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)
|
rs1555546038
|
|
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)
|
|
|
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.966C>T (p.Cys322=)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.969C>A (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.969C>T (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.975G>C (p.Val325=)
|
rs1969881791
|
|
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
|
|
|
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser)
|
|
|
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
|
|
|
NM_000080.4(CHRNE):c.984G>T (p.Val328=)
|
rs1969880796
|
|
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
|
|
|
NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro)
|
rs2151095207
|
|
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs)
|
rs1969880683
|
|
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
|
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
|
|
|
NM_000080.4(CHRNE):c.996G>A (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
|
|
|
NM_000080.4(CHRNE):c.996G>T (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)
|
|
|