NC_000016.10:g.23217001C>T
|
rs72647553
|
0.02633
|
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)
|
rs5739
|
0.01794
|
NM_001039.4(SCNN1G):c.1569+140G>A
|
rs67914754
|
0.01279
|
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)
|
rs5736
|
0.01206
|
NM_001039.4(SCNN1G):c.-44-233_-44-231del
|
rs1395489330
|
0.01159
|
NM_001039.4(SCNN1G):c.-44-244_-44-236del
|
rs201153561
|
0.01159
|
NM_001039.4(SCNN1G):c.*1261G>A
|
rs8043698
|
0.00958
|
NM_001039.4(SCNN1G):c.619-78G>T
|
rs72646498
|
0.00944
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00695
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)
|
rs146420892
|
0.00043
|
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)
|
rs72647543
|
0.00030
|
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)
|
rs145602271
|
0.00015
|
NM_001039.4(SCNN1G):c.1119G>A (p.Thr373=)
|
rs779952443
|
0.00013
|
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)
|
rs774767092
|
0.00005
|
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=)
|
rs752432261
|
0.00001
|
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)
|
rs1270059843
|
0.00001
|
NM_001039.4(SCNN1G):c.318-17C>T
|
rs769743156
|
0.00001
|
NM_001039.4(SCNN1G):c.420G>A (p.Ala140=)
|
rs762223423
|
0.00001
|
NM_001039.4(SCNN1G):c.1077+7G>T
|
|
|
NM_001039.4(SCNN1G):c.1078-17TGC[3]
|
|
|
NM_001039.4(SCNN1G):c.1122G>A (p.Glu374=)
|
|
|
NM_001039.4(SCNN1G):c.1176+18G>A
|
|
|
NM_001039.4(SCNN1G):c.1239C>T (p.Ser413=)
|
|
|
NM_001039.4(SCNN1G):c.1294+100G>A
|
rs72647522
|
|
NM_001039.4(SCNN1G):c.1373+16G>A
|
|
|
NM_001039.4(SCNN1G):c.1431+14C>T
|
|
|
NM_001039.4(SCNN1G):c.1493+110dup
|
rs376259589
|
|
NM_001039.4(SCNN1G):c.1493+12C>G
|
|
|
NM_001039.4(SCNN1G):c.1493+15C>T
|
|
|
NM_001039.4(SCNN1G):c.1494-15G>T
|
|
|
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)
|
rs144653364
|
|
NM_001039.4(SCNN1G):c.1570-17C>A
|
|
|
NM_001039.4(SCNN1G):c.1570-6T>C
|
|
|
NM_001039.4(SCNN1G):c.159C>T (p.Arg53=)
|
rs536006286
|
|
NM_001039.4(SCNN1G):c.1635C>T (p.Cys545=)
|
|
|
NM_001039.4(SCNN1G):c.1860C>T (p.Pro620=)
|
|
|
NM_001039.4(SCNN1G):c.1869G>A (p.Pro623=)
|
|
|
NM_001039.4(SCNN1G):c.1923A>G (p.Thr641=)
|
|
|
NM_001039.4(SCNN1G):c.297C>T (p.Ile99=)
|
|
|
NM_001039.4(SCNN1G):c.317+18G>C
|
|
|
NM_001039.4(SCNN1G):c.318-18T>C
|
|
|
NM_001039.4(SCNN1G):c.318-4G>C
|
|
|
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)
|
|
|
NM_001039.4(SCNN1G):c.45G>T (p.Leu15=)
|
|
|
NM_001039.4(SCNN1G):c.546C>T (p.Val182=)
|
|
|
NM_001039.4(SCNN1G):c.594C>T (p.Ser198=)
|
|
|
NM_001039.4(SCNN1G):c.603G>T (p.Val201=)
|
|
|
NM_001039.4(SCNN1G):c.619-20G>A
|
|
|
NM_001039.4(SCNN1G):c.684G>A (p.Glu228=)
|
|
|
NM_001039.4(SCNN1G):c.819G>A (p.Thr273=)
|
|
|
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)
|
rs201341816
|
|
NM_001039.4(SCNN1G):c.843G>C (p.Gly281=)
|
|
|
NM_001039.4(SCNN1G):c.914-18G>A
|
|
|