NM_001039.4(SCNN1G):c.1176+14A>G
|
rs5740
|
0.75623
|
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)
|
rs2228576
|
0.75229
|
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)
|
rs238547
|
0.66128
|
NM_001038.6(SCNN1A):c.-93A>G
|
rs10849447
|
0.66126
|
NM_001038.6(SCNN1A):c.1553+32G>A
|
rs3764875
|
0.62475
|
NM_001039.4(SCNN1G):c.*572A>G
|
rs5728
|
0.41693
|
NM_001039.4(SCNN1G):c.*659T>C
|
rs9922851
|
0.41685
|
NM_001039.4(SCNN1G):c.*789T>C
|
rs9923016
|
0.41470
|
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=)
|
rs5735
|
0.27157
|
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)
|
rs5734
|
0.27146
|
NM_000336.3(SCNN1B):c.1152+43G>A
|
rs2303157
|
0.23323
|
NM_001039.4(SCNN1G):c.*675A>G
|
rs5730
|
0.22311
|
NM_001039.4(SCNN1G):c.1493+33T>G
|
rs13306654
|
0.21983
|
NM_001039.4(SCNN1G):c.*606T>A
|
rs5729
|
0.21907
|
NM_001039.4(SCNN1G):c.*236C>T
|
rs5726
|
0.21904
|
NM_001039.4(SCNN1G):c.*268G>A
|
rs5727
|
0.21902
|
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)
|
rs5723
|
0.21902
|
NM_001039.4(SCNN1G):c.1494-49A>G
|
rs11643517
|
0.21899
|
NM_001039.4(SCNN1G):c.1432-7G>A
|
rs13306653
|
0.21894
|
NM_001039.4(SCNN1G):c.*159T>G
|
rs3026
|
0.21892
|
NM_001039.4(SCNN1G):c.*790C>T
|
rs9932505
|
0.21456
|
NM_001039.4(SCNN1G):c.-31A>G
|
rs5732
|
0.20459
|
NM_001039.4(SCNN1G):c.-44-4C>G
|
rs5731
|
0.20385
|
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr)
|
rs11542844
|
0.17402
|
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=)
|
rs250563
|
0.10382
|
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)
|
rs5737
|
0.06659
|
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)
|
rs1799980
|
0.03941
|
NM_001039.4(SCNN1G):c.*1369C>T
|
rs72647549
|
0.03455
|
NM_001038.6(SCNN1A):c.-55+5G>C
|
rs13306617
|
0.03104
|
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)
|
rs3741913
|
0.02955
|
NM_000336.3(SCNN1B):c.1467-14G>A
|
rs34618783
|
0.02274
|
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)
|
rs55859427
|
0.01886
|
NM_001038.6(SCNN1A):c.*633G>T
|
rs62618735
|
0.01803
|
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)
|
rs5739
|
0.01794
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=)
|
rs61731141
|
0.01509
|
NM_001038.5(SCNN1A):c.-155G>A
|
rs72645137
|
0.01427
|
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)
|
rs5736
|
0.01206
|
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=)
|
rs13306619
|
0.00986
|
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)
|
rs61729788
|
0.00962
|
NM_001039.4(SCNN1G):c.*1261G>A
|
rs8043698
|
0.00958
|
NM_001038.6(SCNN1A):c.*296C>T
|
rs55981728
|
0.00844
|
NM_001038.6(SCNN1A):c.*914A>G
|
rs62619209
|
0.00770
|
NM_001038.6(SCNN1A):c.*70T>C
|
rs72657538
|
0.00731
|
NM_001038.6(SCNN1A):c.-48A>G
|
rs150809388
|
0.00712
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00695
|
NM_001038.6(SCNN1A):c.-28T>C
|
rs61759919
|
0.00673
|
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)
|
rs139950628
|
0.00551
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_001038.6(SCNN1A):c.684+9C>T
|
rs111317117
|
0.00378
|
NM_001039.4(SCNN1G):c.*1198A>T
|
rs72647547
|
0.00364
|
NM_001038.6(SCNN1A):c.*920C>T
|
rs72657532
|
0.00349
|
NM_001039.4(SCNN1G):c.1569+10G>A
|
rs13306659
|
0.00344
|
NM_001065.4(TNFRSF1A):c.-96C>T
|
rs115164694
|
0.00312
|
NM_000336.3(SCNN1B):c.777-5T>C
|
rs61759915
|
0.00311
|
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)
|
rs74012901
|
0.00290
|
NM_001038.5(SCNN1A):c.-186C>T
|
rs72645139
|
0.00258
|
NM_001039.4(SCNN1G):c.*328G>A
|
rs56153525
|
0.00197
|
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln)
|
rs72654356
|
0.00186
|
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)
|
rs61759926
|
0.00180
|
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)
|
rs61759916
|
0.00155
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
0.00132
|
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)
|
rs61759917
|
0.00123
|
NM_001038.6(SCNN1A):c.-55+2T>C
|
rs772498945
|
0.00122
|
NM_001038.6(SCNN1A):c.*113C>T
|
rs62620999
|
0.00121
|
NM_001038.6(SCNN1A):c.-54-14C>T
|
rs61758858
|
0.00091
|
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)
|
rs370406973
|
0.00083
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001038.6(SCNN1A):c.*467C>A
|
rs140681881
|
0.00081
|
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=)
|
rs72647527
|
0.00080
|
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)
|
rs148749888
|
0.00078
|
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)
|
rs148985177
|
0.00069
|
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=)
|
rs13306628
|
0.00063
|
NM_000336.3(SCNN1B):c.1270+14C>T
|
rs141909058
|
0.00051
|
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)
|
rs140927806
|
0.00051
|
NM_001038.6(SCNN1A):c.*850C>T
|
rs62627411
|
0.00051
|
NM_001039.4(SCNN1G):c.*1370G>A
|
rs72647550
|
0.00048
|
NM_000336.3(SCNN1B):c.1346+8C>T
|
rs200714599
|
0.00046
|
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)
|
rs72646501
|
0.00044
|
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)
|
rs146420892
|
0.00043
|
NM_000336.3(SCNN1B):c.*241G>A
|
rs529644900
|
0.00040
|
NM_000336.3(SCNN1B):c.*278C>T
|
rs549628659
|
0.00038
|
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=)
|
rs138995556
|
0.00036
|
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=)
|
rs139335335
|
0.00036
|
NM_001039.4(SCNN1G):c.*230C>T
|
rs72647546
|
0.00036
|
NM_001039.4(SCNN1G):c.*979T>C
|
rs540231207
|
0.00036
|
NM_001038.6(SCNN1A):c.876-13C>T
|
rs201235216
|
0.00033
|
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)
|
rs149484264
|
0.00029
|
NM_001038.6(SCNN1A):c.1554-6C>T
|
rs376456435
|
0.00029
|
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)
|
rs762486495
|
0.00024
|
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)
|
rs541449814
|
0.00023
|
NM_000336.2(SCNN1B):c.-150C>G
|
rs530631658
|
0.00022
|
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)
|
rs3764873
|
0.00022
|
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)
|
rs72657550
|
0.00022
|
NM_001065.4(TNFRSF1A):c.-233C>T
|
rs45537340
|
0.00022
|
NM_001038.6(SCNN1A):c.*352A>G
|
rs72657536
|
0.00021
|
NM_001038.6(SCNN1A):c.*727A>G
|
rs549856051
|
0.00020
|
NM_001039.4(SCNN1G):c.*491G>A
|
rs146413363
|
0.00020
|
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)
|
rs2303156
|
0.00019
|
NM_001038.5(SCNN1A):c.-156C>T
|
rs72645138
|
0.00019
|
NM_001038.6(SCNN1A):c.*509T>G
|
rs150966071
|
0.00019
|
NM_001038.6(SCNN1A):c.-59G>C
|
rs72645135
|
0.00019
|
NM_001038.6(SCNN1A):c.1497+6G>C
|
rs144275086
|
0.00019
|
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)
|
rs148959452
|
0.00019
|
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)
|
rs13306627
|
0.00018
|
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)
|
rs2303155
|
0.00016
|
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)
|
rs140945152
|
0.00016
|
NM_001039.4(SCNN1G):c.*106G>A
|
rs550094178
|
0.00016
|
NM_001039.4(SCNN1G):c.*154G>T
|
rs571729989
|
0.00016
|
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)
|
rs145602271
|
0.00015
|
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)
|
rs147926991
|
0.00014
|
NM_001038.6(SCNN1A):c.*4G>A
|
rs557017986
|
0.00014
|
NM_000336.3(SCNN1B):c.*94G>A
|
rs72654359
|
0.00013
|
NM_001038.6(SCNN1A):c.*542G>A
|
rs920293100
|
0.00012
|
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)
|
rs201369319
|
0.00011
|
NM_000336.3(SCNN1B):c.*20G>A
|
rs755277136
|
0.00010
|
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)
|
rs199526819
|
0.00010
|
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)
|
rs373718332
|
0.00009
|
NM_001039.4(SCNN1G):c.*1147A>G
|
rs80081880
|
0.00009
|
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)
|
rs765336896
|
0.00008
|
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)
|
rs745715995
|
0.00008
|
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)
|
rs200966246
|
0.00007
|
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His)
|
rs138784278
|
0.00007
|
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe)
|
rs369382063
|
0.00007
|
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)
|
rs13306633
|
0.00006
|
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)
|
rs199810483
|
0.00006
|
NM_000336.3(SCNN1B):c.586-15T>C
|
rs371098444
|
0.00006
|
NM_000336.3(SCNN1B):c.6C>T (p.His2=)
|
rs564570566
|
0.00006
|
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)
|
rs374264520
|
0.00006
|
NM_001038.6(SCNN1A):c.*114G>A
|
rs886049756
|
0.00006
|
NM_001038.6(SCNN1A):c.*468C>T
|
rs1336335704
|
0.00006
|
NM_001038.6(SCNN1A):c.-69C>T
|
rs545108113
|
0.00006
|
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)
|
rs141756749
|
0.00006
|
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys)
|
rs142409152
|
0.00006
|
NM_001039.4(SCNN1G):c.*591G>T
|
rs538477185
|
0.00006
|
NM_001039.4(SCNN1G):c.*909C>T
|
rs1003477910
|
0.00006
|
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser)
|
rs139012605
|
0.00006
|
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)
|
rs546893551
|
0.00006
|
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=)
|
rs375712066
|
0.00005
|
NM_001039.4(SCNN1G):c.*99C>T
|
rs1418745552
|
0.00005
|
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)
|
rs774767092
|
0.00005
|
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)
|
rs758251652
|
0.00004
|
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)
|
rs776613953
|
0.00004
|
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)
|
rs757137077
|
0.00004
|
NM_001038.6(SCNN1A):c.*69A>G
|
rs1230500939
|
0.00004
|
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)
|
rs775290860
|
0.00004
|
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)
|
rs751903373
|
0.00004
|
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=)
|
rs200985912
|
0.00004
|
NM_000336.3(SCNN1B):c.1404+7C>T
|
rs1485041245
|
0.00003
|
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)
|
rs201279350
|
0.00003
|
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly)
|
rs181065138
|
0.00003
|
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)
|
rs886049758
|
0.00003
|
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)
|
rs771949339
|
0.00003
|
NM_001065.4(TNFRSF1A):c.-74G>A
|
rs200084924
|
0.00003
|
NM_000336.3(SCNN1B):c.*187G>A
|
rs886051816
|
0.00002
|
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg)
|
rs886049757
|
0.00002
|
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)
|
rs755287192
|
0.00002
|
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg)
|
rs144763378
|
0.00002
|
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val)
|
rs1474666302
|
0.00002
|
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)
|
rs137852706
|
0.00001
|
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)
|
rs768729700
|
0.00001
|
NM_000336.3(SCNN1B):c.1419C>T (p.His473=)
|
rs193211556
|
0.00001
|
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=)
|
rs749106839
|
0.00001
|
NM_000336.3(SCNN1B):c.561C>T (p.His187=)
|
rs773448523
|
0.00001
|
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=)
|
rs748167291
|
0.00001
|
NM_001038.6(SCNN1A):c.*180T>C
|
rs1045767188
|
0.00001
|
NM_001038.6(SCNN1A):c.*590C>G
|
rs886049753
|
0.00001
|
NM_001038.6(SCNN1A):c.*666T>C
|
rs891843136
|
0.00001
|
NM_001038.6(SCNN1A):c.*736T>G
|
rs886049752
|
0.00001
|
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)
|
rs756434927
|
0.00001
|
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys)
|
rs1565475355
|
0.00001
|
NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu)
|
rs137852635
|
0.00001
|
NM_001038.6(SCNN1A):c.417-15C>T
|
rs1366336758
|
0.00001
|
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=)
|
rs780536807
|
0.00001
|
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met)
|
rs866913999
|
0.00001
|
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys)
|
rs759933475
|
0.00001
|
NM_001038.6(SCNN1A):c.875+1G>A
|
rs142439390
|
0.00001
|
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser)
|
rs886049759
|
0.00001
|
NM_001039.4(SCNN1G):c.*393T>C
|
rs943847843
|
0.00001
|
NM_001039.4(SCNN1G):c.-23G>A
|
rs762522517
|
0.00001
|
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=)
|
rs752432261
|
0.00001
|
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)
|
rs202142122
|
0.00001
|
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=)
|
rs767735046
|
0.00001
|
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala)
|
rs754747376
|
0.00001
|
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=)
|
rs1203780950
|
0.00001
|
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)
|
rs763601481
|
0.00001
|
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys)
|
rs1001641230
|
0.00001
|
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys)
|
rs147199706
|
0.00001
|
NM_000336.2:c.-7632_-9+6393del
|
|
|
NM_000336.3(SCNN1B):c.*446C>A
|
rs1452320359
|
|
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)
|
rs932297365
|
|
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter)
|
rs1182475940
|
|
NM_000336.3(SCNN1B):c.1270+11G>T
|
rs369905217
|
|
NM_000336.3(SCNN1B):c.1271-10T>C
|
rs886051814
|
|
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys)
|
rs1962919047
|
|
NM_000336.3(SCNN1B):c.1404+15G>A
|
rs886051815
|
|
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)
|
rs146440372
|
|
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)
|
rs146440372
|
|
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)
|
rs1963026711
|
|
NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter)
|
rs2142020387
|
|
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)
|
rs1962399992
|
|
NM_000336.3(SCNN1B):c.776+9C>A
|
rs1962401157
|
|
NM_001038.6(SCNN1A):c.*1012TGTT[1]
|
rs796798913
|
|
NM_001038.6(SCNN1A):c.*1020G>T
|
rs1565473402
|
|
NM_001038.6(SCNN1A):c.*386G>A
|
rs1948277951
|
|
NM_001038.6(SCNN1A):c.*415C>T
|
rs886049755
|
|
NM_001038.6(SCNN1A):c.*580A>C
|
rs886049754
|
|
NM_001038.6(SCNN1A):c.-54-13G>A
|
rs573341191
|
|
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly)
|
rs569195112
|
|
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs)
|
rs1565478701
|
|
NM_001038.6(SCNN1A):c.1360+2T>G
|
rs2136865918
|
|
NM_001038.6(SCNN1A):c.1361-2A>G
|
rs1948331954
|
|
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu)
|
rs72657557
|
|
NM_001038.6(SCNN1A):c.1439+1G>A
|
rs1369791519
|
|
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=)
|
rs200770604
|
|
NM_001038.6(SCNN1A):c.1481C>T (p.Pro494Leu)
|
|
|
NM_001038.6(SCNN1A):c.148del (p.Glu50fs)
|
|
|
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=)
|
rs1948324086
|
|
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)
|
rs137852634
|
|
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile)
|
rs59142484
|
|
NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)
|
|
|
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)
|
rs539360032
|
|
NM_001038.6(SCNN1A):c.203_204del (p.Ile68fs)
|
rs765835593
|
|
NM_001038.6(SCNN1A):c.398G>A (p.Cys133Tyr)
|
|
|
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)
|
rs876657425
|
|
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)
|
rs55797039
|
|
NM_001038.6(SCNN1A):c.652GACTGGAAG[3] (p.Lys223_Ile224insAspTrpLys)
|
|
|
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)
|
|
|
NM_001038.6(SCNN1A):c.729del (p.Val245fs)
|
rs1592074026
|
|
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg)
|
rs768767909
|
|
NM_001039.4(SCNN1G):c.*1243C>T
|
rs527408442
|
|
NM_001039.4(SCNN1G):c.*1273C>T
|
rs1960163702
|
|
NM_001039.4(SCNN1G):c.*1287C>T
|
rs927733196
|
|
NM_001039.4(SCNN1G):c.*584G>A
|
rs886051802
|
|
NM_001039.4(SCNN1G):c.*597dup
|
rs566227302
|
|
NM_001039.4(SCNN1G):c.*789T>G
|
rs9923016
|
|
NM_001039.4(SCNN1G):c.*789_*790delinsCT
|
rs386789797
|
|
NM_001039.4(SCNN1G):c.1177-7C>T
|
rs1488754125
|
|
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter)
|
rs764425655
|
|
NM_001039.4(SCNN1G):c.1373+29T>C
|
rs12708649
|
|
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu)
|
rs886051801
|
|
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser)
|
rs1960141342
|
|
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln)
|
rs5738
|
|
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=)
|
rs886051800
|
|