NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
NM_000083.3(CLCN1):c.264G>A (p.Val88=)
|
rs759188441
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)
|
rs746125212
|
0.00003
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys)
|
rs889073641
|
0.00001
|
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser)
|
rs375292685
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)
|
rs754350357
|
0.00001
|
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp)
|
rs753308829
|
0.00001
|
NM_000083.3(CLCN1):c.2403+5G>A
|
rs1474520642
|
0.00001
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)
|
rs1475869303
|
0.00001
|
NM_000083.3(CLCN1):c.1252-1G>T
|
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser)
|
rs1486868849
|
|
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
|
|
|
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
|
|
|
NM_000083.3(CLCN1):c.1471+2del
|
rs2116864878
|
|
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
|
|
|
NM_000083.3(CLCN1):c.1582+1G>A
|
|
|
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
|
|
|
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
|
|
|
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)
|
rs762754992
|
|
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
|
|
|
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser)
|
rs1586510615
|
|
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
|
|
|
NM_000083.3(CLCN1):c.1796+1G>A
|
|
|
NM_000083.3(CLCN1):c.181-2A>G
|
rs1802376231
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
NM_000083.3(CLCN1):c.1931-1G>C
|
rs2116383424
|
|
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp)
|
rs1563087092
|
|
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala)
|
rs1803225186
|
|
NM_000083.3(CLCN1):c.2284+1G>A
|
|
|
NM_000083.3(CLCN1):c.2365-1G>A
|
|
|
NM_000083.3(CLCN1):c.2403+1G>A
|
|
|
NM_000083.3(CLCN1):c.2508+1G>A
|
|
|
NM_000083.3(CLCN1):c.2509-2A>C
|
|
|
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)
|
rs1563090141
|
|
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
|
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.433+1G>A
|
|
|
NM_000083.3(CLCN1):c.434-1G>A
|
|
|
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)
|
rs771532474
|
|
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
|
|
|
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val)
|
rs746401512
|
|
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe)
|
rs2116838394
|
|
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
|
|
|
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)
|
rs2116838620
|
|
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
|
|
|
NM_000083.3(CLCN1):c.697-1G>C
|
rs773025750
|
|
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
|
|
|
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
|
rs776173406
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
|
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly)
|
rs757109632
|
|
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe)
|
rs80356688
|
|
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
|
|
|
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
|
|
|
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
|
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg)
|
rs1802702027
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro)
|
rs80356702
|
|
NM_000083.3(CLCN1):c.980-2A>G
|
|
|
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
|
|
|
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
|
|
|