NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu)
|
rs147493705
|
0.00132
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)
|
rs201861334
|
0.00030
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000083.3(CLCN1):c.2403+4A>C
|
rs372826693
|
0.00009
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)
|
rs1441046956
|
0.00003
|
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
|
rs146469288
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)
|
rs200371691
|
0.00002
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
0.00001
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
0.00001
|
NM_000083.3(CLCN1):c.2365-3T>C
|
rs770158484
|
0.00001
|
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln)
|
rs771890096
|
0.00001
|
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His)
|
rs147068247
|
0.00001
|
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)
|
rs1554434814
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)
|
rs759703560
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu)
|
rs1554436573
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1167-3C>T
|
rs1308054644
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg)
|
rs759207718
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met)
|
rs1554438433
|
|
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu)
|
rs1554439830
|
|
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis)
|
rs2116396889
|
|
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His)
|
rs143146088
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=)
|
rs1803411706
|
|
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys)
|
rs1803416147
|
|
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)
|
rs1586483178
|
|
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.586A>T (p.Thr196Ser)
|
rs1802442547
|
|
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)
|
rs1802446540
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala)
|
rs1586489367
|
|
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
|
|
|
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
|
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
|
rs140664749
|
|