NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NC_000017.10:g.(?_78086381)_(78091497_?)del
|
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|