NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)
|
rs561470261
|
0.00002
|
NM_000083.3(CLCN1):c.774+1G>A
|
rs776073429
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)
|
rs757109632
|
0.00002
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)
|
rs201894078
|
0.00001
|
NM_000083.3(CLCN1):c.2172+1G>T
|
rs1273524525
|
0.00001
|
NM_000083.3(CLCN1):c.2364+2T>A
|
rs886041384
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)
|
rs752041565
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
|
rs1269268607
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
|
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)
|
rs1554436419
|
|