NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)
|
rs1488095558
|
0.00013
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)
|
rs368970223
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)
|
rs137854527
|
0.00003
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs)
|
rs1308707703
|
0.00002
|
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)
|
rs749645231
|
0.00002
|
NM_213599.3(ANO5):c.1119+1G>T
|
rs762946781
|
0.00001
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)
|
rs1168346560
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)
|
rs912174567
|
0.00001
|
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)
|
rs764261431
|
0.00001
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)
|
rs762874007
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NC_000011.10:g.(?_22193483)_(22226062_?)del
|
|
|
NC_000011.9:g.(?_22215039)_(22225416_?)del
|
|
|
NC_000011.9:g.(?_22215039)_(22247618_?)del
|
|
|
NC_000011.9:g.(?_22225330)_(22225416_?)del
|
|
|
NC_000011.9:g.(?_22242623)_(22277088_?)del
|
|
|
NC_000011.9:g.(?_22242623)_(22301311_?)del
|
|
|
NC_000011.9:g.(?_22242633)_(22242766_?)del
|
|
|
NC_000011.9:g.(?_22261095)_(22261250_?)del
|
|
|
NC_000011.9:g.(?_22261105)_(22301321_?)del
|
|
|
NC_000011.9:g.(?_22276907)_(22301321_?)del
|
|
|
NC_000011.9:g.(?_22281045)_(22281307_?)del
|
|
|
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)
|
rs2133704072
|
|
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)
|
rs1554929301
|
|
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)
|
rs886044020
|
|
NM_213599.3(ANO5):c.1158del (p.Phe386fs)
|
rs1564936489
|
|
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
|
|
|
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)
|
rs1554930267
|
|
NM_213599.3(ANO5):c.1222del (p.Leu408fs)
|
rs1853968715
|
|
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)
|
rs754889480
|
|
NM_213599.3(ANO5):c.1409T>G (p.Met470Arg)
|
rs1403946332
|
|
NM_213599.3(ANO5):c.1516del (p.Ser506fs)
|
rs1302414683
|
|
NM_213599.3(ANO5):c.1520del (p.Phe507fs)
|
rs794727158
|
|
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)
|
rs1486335553
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)
|
rs1854126127
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)
|
rs747719953
|
|
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)
|
rs2133747497
|
|
NM_213599.3(ANO5):c.1680del (p.Met560fs)
|
|
|
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)
|
rs2133747657
|
|
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)
|
rs368389717
|
|
NM_213599.3(ANO5):c.1737dup (p.Gly580fs)
|
rs759064817
|
|
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter)
|
rs1364860348
|
|
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
|
|
|
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
|
|
|
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)
|
rs146341538
|
|
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)
|
rs563666662
|
|
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
|
|
|
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
|
|
|
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)
|
rs760137559
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer)
|
rs794727231
|
|
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs)
|
rs746738154
|
|
NM_213599.3(ANO5):c.2236-2_2238dup
|
|
|
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
|
|
|
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)
|
rs1191668273
|
|
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|
NM_213599.3(ANO5):c.246del (p.Phe82fs)
|
|
|
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)
|
rs747146523
|
|
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
|
|
|
NM_213599.3(ANO5):c.294+5G>A
|
rs2133589044
|
|
NM_213599.3(ANO5):c.299del (p.Arg100fs)
|
rs1064793358
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.340del (p.Glu114fs)
|
|
|
NM_213599.3(ANO5):c.352del (p.Glu118fs)
|
rs878854367
|
|
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
|
|
|
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)
|
rs1554924356
|
|
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
|
|
|
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)
|
rs570341380
|
|
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)
|
rs794727981
|
|
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter)
|
rs2133663216
|
|
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
|
|
|
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)
|
rs1590266227
|
|
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter)
|
rs1380525804
|
|
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)
|
rs766994696
|
|
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)
|
rs1564930625
|
|
NM_213599.3(ANO5):c.873_876del (p.Ile292fs)
|
rs1458677325
|
|
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
|
rs1383346134
|
|
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)
|
rs373814281
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|