NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)
|
rs144901347
|
0.00327
|
NM_001127898.4(CLCN5):c.2361-18A>G
|
rs372830719
|
0.00057
|
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met)
|
rs140514551
|
0.00020
|
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)
|
rs199594074
|
0.00015
|
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)
|
rs147798092
|
0.00015
|
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)
|
rs781790886
|
0.00013
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
NM_001127898.4(CLCN5):c.315+12G>A
|
rs781796383
|
0.00009
|
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)
|
rs201962580
|
0.00007
|
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)
|
rs781924436
|
0.00005
|
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)
|
rs147378499
|
0.00004
|
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn)
|
rs782412118
|
0.00004
|
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val)
|
rs1210108844
|
0.00002
|
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)
|
rs782088515
|
0.00002
|
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)
|
rs946613180
|
0.00002
|
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val)
|
rs200953235
|
0.00001
|
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)
|
rs1933979876
|
|
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)
|
rs1557194353
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)
|
rs1049618423
|
|
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)
|
rs1933713383
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|