NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_213599.3(ANO5):c.2273G>A (p.Arg758His)
|
rs369058382
|
0.00012
|
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)
|
rs760792371
|
0.00004
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)
|
rs777607869
|
0.00002
|
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)
|
rs763783201
|
0.00002
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
NM_213599.3(ANO5):c.139-1del
|
rs868484837
|
0.00001
|
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)
|
rs529961953
|
0.00001
|
NM_213599.3(ANO5):c.2030-2A>T
|
rs1187569251
|
0.00001
|
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)
|
rs926233739
|
0.00001
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
NC_000011.10:g.(?_22218246)_(22221210_?)del
|
|
|
NC_000011.10:g.(?_22272764)_(22276219_?)del
|
|
|
NC_000011.9:g.(?_22257699)_(22261240_?)dup
|
|
|
NC_000011.9:g.(?_22297630)_(22301321_?)del
|
|
|
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_213599.3(ANO5):c.1180+1G>C
|
|
|
NM_213599.3(ANO5):c.1181-1G>A
|
|
|
NM_213599.3(ANO5):c.1333-2A>G
|
rs2133730668
|
|
NM_213599.3(ANO5):c.1333-2A>T
|
rs2133730668
|
|
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)
|
|
|
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)
|
|
|
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)
|
|
|
NM_213599.3(ANO5):c.1630+2T>G
|
rs1590300702
|
|
NM_213599.3(ANO5):c.1631-12_1631-2del
|
rs886043327
|
|
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly)
|
rs747719953
|
|
NM_213599.3(ANO5):c.180+2T>C
|
rs1564918396
|
|
NM_213599.3(ANO5):c.1801-1G>C
|
rs2133750487
|
|
NM_213599.3(ANO5):c.1898+1del
|
|
|
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
|
|
|
NM_213599.3(ANO5):c.2414+1G>C
|
rs2133795361
|
|
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)
|
rs794727350
|
|
NM_213599.3(ANO5):c.295-1G>A
|
rs780109230
|
|
NM_213599.3(ANO5):c.295-2A>G
|
|
|
NM_213599.3(ANO5):c.364-1G>A
|
rs1852871649
|
|
NM_213599.3(ANO5):c.395A>T (p.Lys132Met)
|
rs1852872996
|
|
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn)
|
rs375867377
|
|
NM_213599.3(ANO5):c.40+2T>C
|
|
|
NM_213599.3(ANO5):c.649-2A>G
|
rs773736505
|
|
NM_213599.3(ANO5):c.878+1G>A
|
|
|
NM_213599.3(ANO5):c.88-1G>A
|
|
|