NM_000044.6(AR):c.1616+21621G>A
|
rs1204038
|
0.36101
|
NM_000044.6(AR):c.639G>A (p.Glu213=)
|
rs6152
|
0.28599
|
NM_000044.6(AR):c.2450-44G>A
|
rs5031002
|
0.01476
|
NM_000044.6(AR):c.1029T>C (p.Ser343=)
|
rs113983339
|
0.00467
|
NM_000044.6(AR):c.324G>C (p.Leu108=)
|
rs147677446
|
0.00445
|
NM_000044.6(AR):c.1788C>T (p.Cys596=)
|
rs150303722
|
0.00334
|
NM_000044.6(AR):c.1743G>A (p.Lys581=)
|
rs6154
|
0.00327
|
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)
|
rs200510049
|
0.00194
|
NM_000044.6(AR):c.636G>A (p.Arg212=)
|
rs150226204
|
0.00171
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)
|
rs137852593
|
0.00141
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
|
rs1800053
|
0.00123
|
NM_000044.6(AR):c.1960G>A (p.Glu654Lys)
|
rs200737258
|
0.00116
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000044.6(AR):c.1383C>T (p.Gly461=)
|
rs768280979
|
0.00109
|
NM_000044.6(AR):c.1371C>T (p.Gly457=)
|
rs747409696
|
0.00104
|
NM_000044.6(AR):c.1536G>A (p.Val512=)
|
rs150545747
|
0.00059
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
NM_000044.6(AR):c.1616+12C>T
|
rs375988329
|
0.00032
|
NM_000044.6(AR):c.134C>G (p.Ala45Gly)
|
rs139767835
|
0.00025
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
NM_000044.6(AR):c.2388A>G (p.Gly796=)
|
rs756432037
|
0.00021
|
NM_000044.6(AR):c.1746C>T (p.Val582=)
|
rs145171897
|
0.00019
|
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)
|
rs139524801
|
0.00018
|
NM_000044.6(AR):c.1368T>C (p.Gly456=)
|
rs866187574
|
0.00015
|
NM_000044.6(AR):c.475G>A (p.Ala159Thr)
|
rs370215797
|
0.00014
|
NM_000044.6(AR):c.814C>T (p.Leu272Phe)
|
rs148972137
|
0.00013
|
NM_000044.6(AR):c.2607+20T>C
|
rs561297300
|
0.00012
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
NM_000044.6(AR):c.2517C>T (p.Leu839=)
|
rs6153
|
0.00009
|
NM_000044.6(AR):c.188A>T (p.Gln63Leu)
|
rs62636527
|
0.00006
|
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)
|
rs367604031
|
0.00004
|
NM_000044.6(AR):c.1885+4A>T
|
rs372585782
|
0.00004
|
NM_000044.6(AR):c.1723C>G (p.Leu575Val)
|
rs376443652
|
0.00003
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
NM_000044.6(AR):c.1651G>C (p.Asp551His)
|
rs777461721
|
0.00002
|
NM_000044.6(AR):c.7G>A (p.Val3Met)
|
rs778912582
|
0.00002
|
NM_000044.6(AR):c.1125G>C (p.Pro375=)
|
rs745883223
|
0.00001
|
NM_000044.6(AR):c.1380C>T (p.Gly460=)
|
rs1264262764
|
0.00001
|
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)
|
rs137852569
|
0.00001
|
NM_000044.6(AR):c.1847G>A (p.Arg616His)
|
rs754201976
|
0.00001
|
NM_000044.6(AR):c.1889G>A (p.Arg630Gln)
|
rs868669253
|
0.00001
|
NM_000044.6(AR):c.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
NM_000044.6(AR):c.2668G>A (p.Val890Met)
|
rs886041133
|
0.00001
|
NC_000023.10:g.(?_66788225)_(67021550_?)del
|
|
|
NC_000023.10:g.(?_66863078)_(66905988_?)dup
|
|
|
NC_000023.10:g.(?_66863078)_(66943703_?)del
|
|
|
NC_000023.10:g.(?_66905832)_(66905988_?)del
|
|
|
NC_000023.10:g.(?_66931224)_(66931551_?)del
|
|
|
NC_000023.10:g.(?_66941655)_(66943683_?)del
|
|
|
NC_000023.11:g.(?_67686010)_(67686126_?)del
|
|
|
NM_000044.6(AR):c.1014A>C (p.Thr338=)
|
|
|
NM_000044.6(AR):c.1017T>C (p.Leu339=)
|
|
|
NM_000044.6(AR):c.1021C>T (p.Leu341=)
|
|
|
NM_000044.6(AR):c.1032C>T (p.Thr344=)
|
|
|
NM_000044.6(AR):c.1036T>C (p.Ser346Pro)
|
|
|
NM_000044.6(AR):c.1040T>G (p.Leu347Arg)
|
|
|
NM_000044.6(AR):c.1041C>G (p.Leu347=)
|
|
|
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
|
|
|
NM_000044.6(AR):c.1063G>T (p.Glu355Ter)
|
rs367604031
|
|
NM_000044.6(AR):c.1068A>T (p.Ala356=)
|
|
|
NM_000044.6(AR):c.1074G>C (p.Ala358=)
|
|
|
NM_000044.6(AR):c.1104A>G (p.Pro368=)
|
|
|
NM_000044.6(AR):c.1106T>C (p.Leu369Pro)
|
|
|
NM_000044.6(AR):c.1110T>C (p.Ala370=)
|
|
|
NM_000044.6(AR):c.1111C>T (p.Leu371=)
|
|
|
NM_000044.6(AR):c.1113G>A (p.Leu371=)
|
|
|
NM_000044.6(AR):c.1123C>T (p.Pro375Ser)
|
|
|
NM_000044.6(AR):c.1137G>A (p.Pro379=)
|
|
|
NM_000044.6(AR):c.1146T>C (p.His382=)
|
|
|
NM_000044.6(AR):c.1149C>G (p.Pro383=)
|
|
|
NM_000044.6(AR):c.1149C>T (p.Pro383=)
|
|
|
NM_000044.6(AR):c.1150dup (p.His384fs)
|
|
|
NM_000044.6(AR):c.1157G>A (p.Arg386His)
|
|
|
NM_000044.6(AR):c.1179G>A (p.Leu393=)
|
|
|
NM_000044.6(AR):c.1185C>T (p.Tyr395=)
|
|
|
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
|
|
|
NM_000044.6(AR):c.1191C>T (p.Ser397=)
|
|
|
NM_000044.6(AR):c.1194C>T (p.Ala398=)
|
|
|
NM_000044.6(AR):c.119G>A (p.Arg40Lys)
|
|
|
NM_000044.6(AR):c.1206G>T (p.Ala402=)
|
|
|
NM_000044.6(AR):c.1212G>A (p.Ala404=)
|
|
|
NM_000044.6(AR):c.1212G>C (p.Ala404=)
|
|
|
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)
|
|
|
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
|
|
|
NM_000044.6(AR):c.1239C>T (p.Ser413=)
|
|
|
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
|
|
|
NM_000044.6(AR):c.1248C>A (p.Gly416=)
|
|
|
NM_000044.6(AR):c.1266C>T (p.Pro422=)
|
|
|
NM_000044.6(AR):c.1275G>C (p.Gly425=)
|
|
|
NM_000044.6(AR):c.1281C>T (p.Pro427=)
|
|
|
NM_000044.6(AR):c.1290C>T (p.Ala430=)
|
|
|
NM_000044.6(AR):c.1296C>G (p.Ser432=)
|
|
|
NM_000044.6(AR):c.1314_1315del (p.Phe439fs)
|
rs1602144930
|
|
NM_000044.6(AR):c.1323C>G (p.Ala441=)
|
|
|
NM_000044.6(AR):c.1325A>T (p.Glu442Val)
|
|
|
NM_000044.6(AR):c.1335del (p.Gln445fs)
|
rs1929749440
|
|
NM_000044.6(AR):c.1338G>A (p.Leu446=)
|
|
|
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
|
|
|
NM_000044.6(AR):c.1347G>C (p.Pro449=)
|
|
|
NM_000044.6(AR):c.1353T>C (p.Gly451=)
|
|
|
NM_000044.6(AR):c.1356T>C (p.Gly452=)
|
|
|
NM_000044.6(AR):c.1359T>C (p.Gly453=)
|
|
|
NM_000044.6(AR):c.1359T>G (p.Gly453=)
|
|
|
NM_000044.6(AR):c.1362G>C (p.Gly454=)
|
|
|
NM_000044.6(AR):c.1362G>T (p.Gly454=)
|
|
|
NM_000044.6(AR):c.1365T>C (p.Gly455=)
|
|
|
NM_000044.6(AR):c.1365T>G (p.Gly455=)
|
|
|
NM_000044.6(AR):c.1365TGG[1] (p.Gly473del)
|
|
|
NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly)
|
|
|
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[16] (p.Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly)
|
|
|
NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup)
|
rs760580125
|
|
NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup)
|
rs760580125
|
|
NM_000044.6(AR):c.1371C>A (p.Gly457=)
|
|
|
NM_000044.6(AR):c.1374C>T (p.Gly458=)
|
|
|
NM_000044.6(AR):c.1377C>T (p.Gly459=)
|
|
|
NM_000044.6(AR):c.1386C>T (p.Gly462=)
|
|
|
NM_000044.6(AR):c.1389C>T (p.Gly463=)
|
|
|
NM_000044.6(AR):c.1392C>T (p.Gly464=)
|
|
|
NM_000044.6(AR):c.1395C>T (p.Gly465=)
|
|
|
NM_000044.6(AR):c.1398C>T (p.Gly466=)
|
|
|
NM_000044.6(AR):c.1401C>T (p.Gly467=)
|
|
|
NM_000044.6(AR):c.1407C>A (p.Gly469=)
|
|
|
NM_000044.6(AR):c.1407C>G (p.Gly469=)
|
|
|
NM_000044.6(AR):c.1413C>T (p.Gly471=)
|
|
|
NM_000044.6(AR):c.1416C>A (p.Gly472=)
|
|
|
NM_000044.6(AR):c.1416C>T (p.Gly472=)
|
|
|
NM_000044.6(AR):c.1419C>G (p.Gly473=)
|
|
|
NM_000044.6(AR):c.1419_1421del (p.Glu474del)
|
rs1929768492
|
|
NM_000044.6(AR):c.1422G>A (p.Glu474=)
|
|
|
NM_000044.6(AR):c.1440dup (p.Tyr481fs)
|
rs1555970004
|
|
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys)
|
rs1555970006
|
|
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter)
|
rs766161615
|
|
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)
|
rs766161615
|
|
NM_000044.6(AR):c.1443C>T (p.Tyr481=)
|
|
|
NM_000044.6(AR):c.1451_1454del (p.Thr484fs)
|
rs1569265331
|
|
NM_000044.6(AR):c.1460del (p.Pro487fs)
|
rs1929773822
|
|
NM_000044.6(AR):c.1467G>A (p.Gly489=)
|
|
|
NM_000044.6(AR):c.1467G>T (p.Gly489=)
|
|
|
NM_000044.6(AR):c.1477C>T (p.Gln493Ter)
|
rs2147322621
|
|
NM_000044.6(AR):c.1479G>A (p.Gln493=)
|
|
|
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
|
|
|
NM_000044.6(AR):c.1503T>C (p.Asp501=)
|
|
|
NM_000044.6(AR):c.150C>T (p.Pro50=)
|
|
|
NM_000044.6(AR):c.1515T>C (p.Pro505=)
|
|
|
NM_000044.6(AR):c.1518C>G (p.Gly506=)
|
|
|
NM_000044.6(AR):c.1533A>G (p.Arg511=)
|
|
|
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
|
|
|
NM_000044.6(AR):c.1566C>T (p.Ser522=)
|
|
|
NM_000044.6(AR):c.1587T>C (p.Asp529=)
|
|
|
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)
|
|
|
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
|
|
|
NM_000044.6(AR):c.1614dup (p.Arg539fs)
|
rs1569265470
|
|
NM_000044.6(AR):c.1617-13dup
|
|
|
NM_000044.6(AR):c.1617-19G>T
|
|
|
NM_000044.6(AR):c.1617-5T>C
|
|
|
NM_000044.6(AR):c.1617-8C>T
|
|
|
NM_000044.6(AR):c.161TGC[3] (p.Leu57del)
|
rs752055010
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
NM_000044.6(AR):c.1635C>T (p.Asp545=)
|
|
|
NM_000044.6(AR):c.1642T>C (p.Leu548=)
|
|
|
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
|
|
|
NM_000044.6(AR):c.1674G>A (p.Lys558=)
|
|
|
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
|
|
|
NM_000044.6(AR):c.1686C>T (p.Ile562=)
|
|
|
NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
|
|
|
NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp)
|
rs1925886368
|
|
NM_000044.6(AR):c.1705G>T (p.Gly569Trp)
|
rs1555982864
|
|
NM_000044.6(AR):c.1707G>A (p.Gly569=)
|
|
|
NM_000044.6(AR):c.1707del (p.Cys570fs)
|
rs2147436378
|
|
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln)
|
rs755686403
|
|
NM_000044.6(AR):c.1714T>G (p.Tyr572Asp)
|
|
|
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)
|
rs1925886715
|
|
NM_000044.6(AR):c.1715A>T (p.Tyr572Phe)
|
rs1925886715
|
|
NM_000044.6(AR):c.1719A>G (p.Gly573=)
|
|
|
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.1722T>C (p.Ala574=)
|
|
|
NM_000044.6(AR):c.1724_1725del (p.Leu575fs)
|
rs1602220874
|
|
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln)
|
rs1206863775
|
|
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
|
|
|
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln)
|
rs1206863775
|
|
NM_000044.6(AR):c.1731T>C (p.Cys577=)
|
|
|
NM_000044.6(AR):c.1736G>C (p.Ser579Thr)
|
rs1555982879
|
|
NM_000044.6(AR):c.1737C>T (p.Ser579=)
|
|
|
NM_000044.6(AR):c.1737del (p.Cys580fs)
|
rs2147436590
|
|
NM_000044.6(AR):c.1738T>A (p.Cys580Ser)
|
rs2147436595
|
|
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
|
|
|
NM_000044.6(AR):c.1745T>A (p.Val582Asp)
|
|
|
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
|
rs1602143232
|
|
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
|
|
|
NM_000044.6(AR):c.1761C>T (p.Ala587=)
|
|
|
NM_000044.6(AR):c.1768+14C>T
|
|
|
NM_000044.6(AR):c.1768+15A>C
|
|
|
NM_000044.6(AR):c.1768+15A>G
|
|
|
NM_000044.6(AR):c.1768+16C>T
|
|
|
NM_000044.6(AR):c.1768+17A>G
|
|
|
NM_000044.6(AR):c.1768+3A>G
|
rs2147436767
|
|
NM_000044.6(AR):c.1768+7G>A
|
|
|
NM_000044.6(AR):c.1769-13T>G
|
|
|
NM_000044.6(AR):c.1769-15T>C
|
|
|
NM_000044.6(AR):c.1793G>C (p.Ser598Thr)
|
rs2075964628
|
|
NM_000044.6(AR):c.1795A>C (p.Arg599=)
|
|
|
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr)
|
rs1555990470
|
|
NM_000044.6(AR):c.1812T>C (p.Ile604=)
|
|
|
NM_000044.6(AR):c.1814A>G (p.Asp605Gly)
|
rs1555990478
|
|
NM_000044.6(AR):c.1815T>C (p.Asp605=)
|
|
|
NM_000044.6(AR):c.1822C>T (p.Arg608Ter)
|
rs886041128
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
NM_000044.6(AR):c.1824A>C (p.Arg608=)
|
|
|
NM_000044.6(AR):c.1836T>C (p.Cys612=)
|
|
|
NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter)
|
rs1929660142
|
|
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
|
rs1602255415
|
|
NM_000044.6(AR):c.1844del (p.Cys615fs)
|
|
|
NM_000044.6(AR):c.1850T>C (p.Leu617Pro)
|
rs1555990488
|
|
NM_000044.6(AR):c.1854G>A (p.Arg618=)
|
|
|
NM_000044.6(AR):c.1859G>A (p.Cys620Tyr)
|
rs1312745277
|
|
NM_000044.6(AR):c.187C>T (p.Gln63Ter)
|
|
|
NM_000044.6(AR):c.1885+13T>A
|
|
|
NM_000044.6(AR):c.1885+13T>C
|
|
|
NM_000044.6(AR):c.1885+13T>G
|
|
|
NM_000044.6(AR):c.1885+14C>A
|
|
|
NM_000044.6(AR):c.1885+14C>G
|
|
|
NM_000044.6(AR):c.1885+18_1885+21del
|
|
|
NM_000044.6(AR):c.1885+20C>T
|
|
|
NM_000044.6(AR):c.1885+2T>G
|
rs2147497993
|
|
NM_000044.6(AR):c.1885+8A>G
|
|
|
NM_000044.6(AR):c.1886-10T>C
|
|
|
NM_000044.6(AR):c.1886-11C>A
|
|
|
NM_000044.6(AR):c.1886-12C>A
|
|
|
NM_000044.6(AR):c.1886-4A>G
|
|
|
NM_000044.6(AR):c.1890G>A (p.Arg630=)
|
|
|
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
|
rs1602272308
|
|
NM_000044.6(AR):c.190C>T (p.Gln64Ter)
|
|
|
NM_000044.6(AR):c.1920A>G (p.Leu640=)
|
|
|
NM_000044.6(AR):c.1926G>A (p.Glu642=)
|
|
|
NM_000044.6(AR):c.1947C>T (p.Thr649=)
|
|
|
NM_000044.6(AR):c.1959T>G (p.Thr653=)
|
|
|
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer)
|
rs1569263557
|
|
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
|
|
|
NM_000044.6(AR):c.1977G>A (p.Lys659=)
|
|
|
NM_000044.6(AR):c.1980G>A (p.Leu660=)
|
|
|
NM_000044.6(AR):c.1986G>A (p.Val662=)
|
|
|
NM_000044.6(AR):c.1994T>C (p.Ile665Thr)
|
rs9332968
|
|
NM_000044.6(AR):c.1A>T (p.Met1Leu)
|
rs2147313671
|
|
NM_000044.6(AR):c.2016C>A (p.Pro672=)
|
|
|
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
|
|
|
NM_000044.6(AR):c.201G>A (p.Gln67=)
|
|
|
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
|
rs1602272541
|
|
NM_000044.6(AR):c.2031C>T (p.Val677=)
|
|
|
NM_000044.6(AR):c.2037A>C (p.Glu679Asp)
|
rs2076093959
|
|
NM_000044.6(AR):c.2039C>G (p.Ala680Gly)
|
|
|
NM_000044.6(AR):c.2042T>C (p.Ile681Thr)
|
|
|
NM_000044.6(AR):c.2047C>T (p.Pro683Ser)
|
rs2076094025
|
|
NM_000044.6(AR):c.2052T>C (p.Gly684=)
|
|
|
NM_000044.6(AR):c.2053G>A (p.Val685Ile)
|
rs1555995822
|
|
NM_000044.6(AR):c.2061T>C (p.Cys687=)
|
|
|
NM_000044.6(AR):c.2068C>A (p.His690Asn)
|
rs1602272594
|
|
NM_000044.6(AR):c.2070C>G (p.His690Gln)
|
rs754583155
|
|
NM_000044.6(AR):c.2070C>T (p.His690=)
|
|
|
NM_000044.6(AR):c.2073C>T (p.Asp691=)
|
|
|
NM_000044.6(AR):c.2082G>A (p.Gln694=)
|
|
|
NM_000044.6(AR):c.2085C>T (p.Pro695=)
|
|
|
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)
|
rs1555995840
|
|
NM_000044.6(AR):c.2087A>T (p.Asp696Val)
|
|
|
NM_000044.6(AR):c.2097A>G (p.Ala699=)
|
|
|
NM_000044.6(AR):c.2103G>T (p.Leu701Phe)
|
rs1555995848
|
|
NM_000044.6(AR):c.2106C>G (p.Leu702=)
|
|
|
NM_000044.6(AR):c.2106C>T (p.Leu702=)
|
|
|
NM_000044.6(AR):c.2115C>T (p.Leu705=)
|
|
|
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)
|
rs925822435
|
|
NM_000044.6(AR):c.2121A>C (p.Glu707Asp)
|
rs1555995856
|
|
NM_000044.6(AR):c.2125G>A (p.Gly709Arg)
|
rs2076094418
|
|
NM_000044.6(AR):c.2126G>T (p.Gly709Val)
|
rs2147525149
|
|
NM_000044.6(AR):c.2128G>A (p.Glu710Lys)
|
rs2076094436
|
|
NM_000044.6(AR):c.2142A>G (p.Val714=)
|
|
|
NM_000044.6(AR):c.2145C>T (p.His715=)
|
|
|
NM_000044.6(AR):c.2148G>A (p.Val716=)
|
|
|
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
|
|
|
NM_000044.6(AR):c.2159C>T (p.Ala720Val)
|
rs2076094679
|
|
NM_000044.6(AR):c.2162dup (p.Ala722fs)
|
|
|
NM_000044.6(AR):c.2164G>A (p.Ala722Thr)
|
rs137852583
|
|
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
|
|
|
NM_000044.6(AR):c.2173+12G>T
|
|
|
NM_000044.6(AR):c.2174-12C>G
|
|
|
NM_000044.6(AR):c.2174-13T>A
|
|
|
NM_000044.6(AR):c.2174-13TCT[2]
|
|
|
NM_000044.6(AR):c.2174-18C>A
|
|
|
NM_000044.6(AR):c.2174-2A>G
|
|
|
NM_000044.6(AR):c.2176T>C (p.Phe726Leu)
|
rs1555996810
|
|
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
|
|
|
NM_000044.6(AR):c.2180G>A (p.Arg727His)
|
|
|
NM_000044.6(AR):c.2186T>C (p.Leu729Ser)
|
|
|
NM_000044.6(AR):c.2190C>T (p.His730=)
|
|
|
NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)
|
|
|
NM_000044.6(AR):c.2196C>T (p.Asp732=)
|
|
|
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)
|
rs2147530668
|
|
NM_000044.6(AR):c.2211C>T (p.Val737=)
|
|
|
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)
|
|
|
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)
|
|
|
NM_000044.6(AR):c.2225G>T (p.Trp742Leu)
|
rs2076118553
|
|
NM_000044.6(AR):c.222G>A (p.Gln74=)
|
|
|
NM_000044.6(AR):c.2231G>T (p.Gly744Val)
|
rs137852600
|
|
NM_000044.6(AR):c.2232G>T (p.Gly744=)
|
|
|
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
|
|
|
NM_000044.6(AR):c.2236A>T (p.Met746Leu)
|
rs2076118643
|
|
NM_000044.6(AR):c.2237T>C (p.Met746Thr)
|
rs2147530857
|
|
NM_000044.6(AR):c.2239G>A (p.Val747Met)
|
rs1602276233
|
|
NM_000044.6(AR):c.2248A>G (p.Met750Val)
|
rs1085307685
|
|
NM_000044.6(AR):c.2253C>T (p.Gly751=)
|
|
|
NM_000044.6(AR):c.2255G>A (p.Trp752Ter)
|
rs2147530924
|
|
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)
|
|
|
NM_000044.6(AR):c.2257C>T (p.Arg753Ter)
|
rs886039558
|
|
NM_000044.6(AR):c.2268del (p.Asn757fs)
|
|
|
NM_000044.6(AR):c.2274C>T (p.Val758=)
|
|
|
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr)
|
rs2147531034
|
|
NM_000044.6(AR):c.2283G>T (p.Arg761Ser)
|
rs2076118894
|
|
NM_000044.6(AR):c.2289C>G (p.Leu763=)
|
|
|
NM_000044.6(AR):c.2289C>T (p.Leu763=)
|
|
|
NM_000044.6(AR):c.2295C>T (p.Phe765=)
|
|
|
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)
|
rs1555996863
|
|
NM_000044.6(AR):c.2310T>C (p.Val770=)
|
|
|
NM_000044.6(AR):c.2318+16G>A
|
|
|
NM_000044.6(AR):c.2318+18C>T
|
|
|
NM_000044.6(AR):c.2318+1G>C
|
rs1569314508
|
|
NM_000044.6(AR):c.2318+7G>T
|
|
|
NM_000044.6(AR):c.2318+8C>T
|
|
|
NM_000044.6(AR):c.2318A>G (p.Glu773Gly)
|
rs2076119092
|
|
NM_000044.6(AR):c.2318A>T (p.Glu773Val)
|
rs2076119092
|
|
NM_000044.6(AR):c.2319-10T>C
|
|
|
NM_000044.6(AR):c.2319-11C>G
|
|
|
NM_000044.6(AR):c.2319-13A>G
|
|
|
NM_000044.6(AR):c.2319-13_2319-11dup
|
|
|
NM_000044.6(AR):c.2319-15G>T
|
|
|
NM_000044.6(AR):c.2319-17G>A
|
|
|
NM_000044.6(AR):c.2319-18T>C
|
|
|
NM_000044.6(AR):c.2319-1G>C
|
|
|
NM_000044.6(AR):c.2319-8C>T
|
|
|
NM_000044.6(AR):c.2319-9C>T
|
|
|
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter)
|
rs2147535489
|
|
NM_000044.6(AR):c.2322C>T (p.Tyr774=)
|
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2324G>A (p.Arg775His)
|
rs137852572
|
|
NM_000044.6(AR):c.2327T>C (p.Met776Thr)
|
|
|
NM_000044.6(AR):c.2334G>T (p.Lys778Asn)
|
rs2076137260
|
|
NM_000044.6(AR):c.2337C>G (p.Ser779=)
|
|
|
NM_000044.6(AR):c.2338C>T (p.Arg780Trp)
|
rs2076137289
|
|
NM_000044.6(AR):c.2340G>T (p.Arg780=)
|
|
|
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
|
|
|
NM_000044.6(AR):c.234G>A (p.Gln78=)
|
|
|
NM_000044.6(AR):c.2359C>T (p.Arg787Ter)
|
rs1555997580
|
|
NM_000044.6(AR):c.2360G>C (p.Arg787Pro)
|
rs764684648
|
|
NM_000044.6(AR):c.2363T>G (p.Met788Arg)
|
|
|
NM_000044.6(AR):c.2383T>G (p.Phe795Val)
|
rs1162418613
|
|
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)
|
rs137852565
|
|
NM_000044.6(AR):c.2392C>A (p.Leu798Ile)
|
|
|
NM_000044.6(AR):c.2394C>A (p.Leu798=)
|
|
|
NM_000044.6(AR):c.2394C>T (p.Leu798=)
|
|
|
NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs)
|
rs1569263642
|
|
NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)
|
|
|
NM_000044.6(AR):c.2403C>G (p.Thr801=)
|
|
|
NM_000044.6(AR):c.2403C>T (p.Thr801=)
|
|
|
NM_000044.6(AR):c.2406C>A (p.Pro802=)
|
|
|
NM_000044.6(AR):c.2407del (p.Gln803fs)
|
|
|
NM_000044.6(AR):c.240A>G (p.Gln80=)
|
|
|
NM_000044.6(AR):c.2415C>T (p.Phe805=)
|
|
|
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr)
|
rs1064793480
|
|
NM_000044.6(AR):c.2421C>T (p.Cys807=)
|
|
|
NM_000044.6(AR):c.2436A>G (p.Leu812=)
|
|
|
NM_000044.6(AR):c.2437C>T (p.Leu813Phe)
|
rs1555997625
|
|
NM_000044.6(AR):c.2439C>G (p.Leu813=)
|
|
|
NM_000044.6(AR):c.2439C>T (p.Leu813=)
|
|
|
NM_000044.6(AR):c.2449+10T>G
|
|
|
NM_000044.6(AR):c.2449+17G>A
|
|
|
NM_000044.6(AR):c.2449+20G>T
|
|
|
NM_000044.6(AR):c.2449+3A>G
|
|
|
NM_000044.6(AR):c.2449+5G>A
|
|
|
NM_000044.6(AR):c.2449+8C>T
|
|
|
NM_000044.6(AR):c.2450-11T>A
|
|
|
NM_000044.6(AR):c.2450-19T>C
|
|
|
NM_000044.6(AR):c.2450-6C>G
|
rs754515125
|
|
NM_000044.6(AR):c.2450-8C>T
|
|
|
NM_000044.6(AR):c.2460T>C (p.Asp820=)
|
|
|
NM_000044.6(AR):c.2464C>G (p.Leu822Val)
|
|
|
NM_000044.6(AR):c.2464C>T (p.Leu822=)
|
|
|
NM_000044.6(AR):c.2465T>A (p.Leu822Gln)
|
|
|
NM_000044.6(AR):c.246T>C (p.Thr82=)
|
|
|
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
|
|
|
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
|
|
|
NM_000044.6(AR):c.2481C>G (p.Phe827Leu)
|
|
|
NM_000044.6(AR):c.2490A>G (p.Glu830=)
|
|
|
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
|
|
|
NM_000044.6(AR):c.2493T>C (p.Leu831=)
|
|
|
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)
|
rs1386577803
|
|
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
|
|
|
NM_000044.6(AR):c.2507T>G (p.Ile836Ser)
|
rs2076141961
|
|
NM_000044.6(AR):c.2511G>A (p.Lys837=)
|
|
|
NM_000044.6(AR):c.2512G>T (p.Glu838Ter)
|
rs1555997775
|
|
NM_000044.6(AR):c.2515C>A (p.Leu839Ile)
|
rs2147537918
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000044.6(AR):c.2526C>T (p.Ile842=)
|
|
|
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
|
rs9332970
|
|
NM_000044.6(AR):c.2546dup (p.Asn849fs)
|
rs1602279488
|
|
NM_000044.6(AR):c.2566C>A (p.Arg856Ser)
|
rs886041132
|
|
NM_000044.6(AR):c.2566C>T (p.Arg856Cys)
|
rs886041132
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.256CAG[7] (p.Gln91dup)
|
rs753526329
|
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NM_000044.6(AR):c.2571C>T (p.Phe857=)
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NM_000044.6(AR):c.2580C>A (p.Leu860=)
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NM_000044.6(AR):c.2591T>C (p.Leu864Pro)
|
rs2076142560
|
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NM_000044.6(AR):c.2592G>T (p.Leu864=)
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|
|
NM_000044.6(AR):c.2598C>A (p.Ser866=)
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|
NM_000044.6(AR):c.2598C>T (p.Ser866=)
|
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2607+10C>T
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|
NM_000044.6(AR):c.2607+11G>A
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NM_000044.6(AR):c.2607+12A>G
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NM_000044.6(AR):c.2607+17G>C
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|
NM_000044.6(AR):c.2607+17G>T
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NM_000044.6(AR):c.2607+18G>A
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NM_000044.6(AR):c.2607+19G>A
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NM_000044.6(AR):c.2608-11G>T
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NM_000044.6(AR):c.2608-14A>T
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NM_000044.6(AR):c.2608-17C>T
|
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NM_000044.6(AR):c.2608-17_2608-16del
|
rs749355366
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NM_000044.6(AR):c.2608-19C>A
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NM_000044.6(AR):c.2608-6C>T
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NM_000044.6(AR):c.2608-7C>G
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NM_000044.6(AR):c.2613G>A (p.Ala871=)
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|
NM_000044.6(AR):c.2619G>A (p.Glu873=)
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NM_000044.6(AR):c.261G>A (p.Gln87=)
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NM_000044.6(AR):c.2620C>T (p.Leu874=)
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NM_000044.6(AR):c.2629T>C (p.Phe877Leu)
|
rs1057519864
|
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NM_000044.6(AR):c.2641C>G (p.Leu881Val)
|
rs755974042
|
|
NM_000044.6(AR):c.2641C>T (p.Leu881=)
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|
NM_000044.6(AR):c.2653T>C (p.Ser885Pro)
|
rs2147540359
|
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NM_000044.6(AR):c.2656C>T (p.His886Tyr)
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NM_000044.6(AR):c.2666G>T (p.Ser889Ile)
|
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NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
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NM_000044.6(AR):c.2677C>T (p.Pro893Ser)
|
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NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
|
rs1602280356
|
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NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
|
rs1602280356
|
|
NM_000044.6(AR):c.2679G>A (p.Pro893=)
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|
NM_000044.6(AR):c.268C>T (p.Gln90Ter)
|
rs1555969545
|
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NM_000044.6(AR):c.2696T>C (p.Ile899Thr)
|
rs1555998105
|
|
NM_000044.6(AR):c.2698A>T (p.Ile900Phe)
|
rs1555998108
|
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NM_000044.6(AR):c.2702C>T (p.Ser901Phe)
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NM_000044.6(AR):c.2703T>C (p.Ser901=)
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|
NM_000044.6(AR):c.2706G>A (p.Val902=)
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|
NM_000044.6(AR):c.270G>T (p.Gln90His)
|
|
|
NM_000044.6(AR):c.2710G>A (p.Val904Met)
|
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|
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
|
rs112374098
|
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NM_000044.6(AR):c.2721C>A (p.Ile907=)
|
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NM_000044.6(AR):c.2736C>G (p.Val912=)
|
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NM_000044.6(AR):c.273G>A (p.Gln91=)
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|
NM_000044.6(AR):c.2741C>A (p.Pro914His)
|
rs2147540801
|
|
NM_000044.6(AR):c.2741C>G (p.Pro914Arg)
|
|
|
NM_000044.6(AR):c.2744T>A (p.Ile915Asn)
|
rs2147540812
|
|
NM_000044.6(AR):c.2745C>T (p.Ile915=)
|
|
|
NM_000044.6(AR):c.2750del (p.Phe917fs)
|
rs2147540838
|
|
NM_000044.6(AR):c.2751C>T (p.Phe917=)
|
|
|
NM_000044.6(AR):c.2752del (p.His918fs)
|
rs1602280414
|
|
NM_000044.6(AR):c.2760G>A (p.Gln920=)
|
|
|
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)
|
|
|
NM_000044.6(AR):c.2762G>A (p.Ter921=)
|
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|
NM_000044.6(AR):c.291C>T (p.Pro97=)
|
|
|
NM_000044.6(AR):c.292C>T (p.Gln98Ter)
|
rs1555969553
|
|
NM_000044.6(AR):c.300T>C (p.His100=)
|
|
|
NM_000044.6(AR):c.302G>A (p.Arg101His)
|
|
|
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
|
|
|
NM_000044.6(AR):c.312C>G (p.Pro104=)
|
|
|
NM_000044.6(AR):c.312C>T (p.Pro104=)
|
|
|
NM_000044.6(AR):c.321C>A (p.Tyr107Ter)
|
rs1481151440
|
|
NM_000044.6(AR):c.333T>C (p.Asp111=)
|
|
|
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
|
|
|
NM_000044.6(AR):c.357G>A (p.Pro119=)
|
|
|
NM_000044.6(AR):c.358C>T (p.Gln120Ter)
|
rs1929683441
|
|
NM_000044.6(AR):c.360G>A (p.Gln120=)
|
|
|
NM_000044.6(AR):c.363G>A (p.Ser121=)
|
|
|
NM_000044.6(AR):c.381C>G (p.Pro127=)
|
|
|
NM_000044.6(AR):c.384G>A (p.Glu128=)
|
|
|
NM_000044.6(AR):c.393C>T (p.Cys131=)
|
|
|
NM_000044.6(AR):c.396C>T (p.Val132=)
|
|
|
NM_000044.6(AR):c.39G>A (p.Arg13=)
|
|
|
NM_000044.6(AR):c.414C>G (p.Ala138=)
|
|
|
NM_000044.6(AR):c.414C>T (p.Ala138=)
|
|
|
NM_000044.6(AR):c.420C>G (p.Ala140=)
|
|
|
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
|
|
|
NM_000044.6(AR):c.459G>A (p.Pro153=)
|
|
|
NM_000044.6(AR):c.459G>C (p.Pro153=)
|
|
|
NM_000044.6(AR):c.45G>A (p.Pro15=)
|
|
|
NM_000044.6(AR):c.45G>T (p.Pro15=)
|
|
|
NM_000044.6(AR):c.462C>T (p.Asp154=)
|
|
|
NM_000044.6(AR):c.463G>T (p.Glu155Ter)
|
rs764126853
|
|
NM_000044.6(AR):c.496C>T (p.Leu166=)
|
|
|
NM_000044.6(AR):c.510T>C (p.Thr170=)
|
|
|
NM_000044.6(AR):c.519C>G (p.Gly173=)
|
|
|
NM_000044.6(AR):c.51G>T (p.Lys17Asn)
|
|
|
NM_000044.6(AR):c.534C>T (p.Ser178=)
|
|
|
NM_000044.6(AR):c.546dup (p.Asp183fs)
|
|
|
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
|
|
|
NM_000044.6(AR):c.593A>T (p.Gln198Leu)
|
|
|
NM_000044.6(AR):c.597G>A (p.Gln199=)
|
|
|
NM_000044.6(AR):c.5A>G (p.Glu2Gly)
|
rs1929637005
|
|
NM_000044.6(AR):c.606A>C (p.Val202=)
|
|
|
NM_000044.6(AR):c.609C>A (p.Ser203=)
|
|
|
NM_000044.6(AR):c.609C>G (p.Ser203=)
|
|
|
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
|
|
|
NM_000044.6(AR):c.627G>T (p.Gly209=)
|
|
|
NM_000044.6(AR):c.633G>C (p.Ala211=)
|
|
|
NM_000044.6(AR):c.646G>A (p.Gly216Arg)
|
rs199554641
|
|
NM_000044.6(AR):c.646G>C (p.Gly216Arg)
|
|
|
NM_000044.6(AR):c.654C>T (p.Pro218=)
|
rs751027309
|
|
NM_000044.6(AR):c.690G>C (p.Ser230=)
|
|
|
NM_000044.6(AR):c.725C>T (p.Ala242Val)
|
rs1929701757
|
|
NM_000044.6(AR):c.732G>A (p.Ser244=)
|
|
|
NM_000044.6(AR):c.732G>T (p.Ser244=)
|
|
|
NM_000044.6(AR):c.733del (p.Val245fs)
|
|
|
NM_000044.6(AR):c.747G>A (p.Leu249=)
|
|
|
NM_000044.6(AR):c.749dup (p.Val251fs)
|
rs1555969684
|
|
NM_000044.6(AR):c.756_765del (p.Glu252fs)
|
rs1602144034
|
|
NM_000044.6(AR):c.778G>A (p.Gly260Arg)
|
|
|
NM_000044.6(AR):c.795G>A (p.Gly265=)
|
|
|
NM_000044.6(AR):c.795G>T (p.Gly265=)
|
|
|
NM_000044.6(AR):c.807C>T (p.Tyr269=)
|
|
|
NM_000044.6(AR):c.809C>A (p.Ala270Asp)
|
|
|
NM_000044.6(AR):c.828A>T (p.Pro276=)
|
|
|
NM_000044.6(AR):c.829_833dup (p.Val279fs)
|
rs2147318663
|
|
NM_000044.6(AR):c.830_845dup (p.Pro283fs)
|
rs1569264288
|
|
NM_000044.6(AR):c.846T>G (p.Thr282=)
|
|
|
NM_000044.6(AR):c.855C>T (p.Ala285=)
|
|
|
NM_000044.6(AR):c.859T>C (p.Leu287=)
|
|
|
NM_000044.6(AR):c.864C>T (p.Ala288=)
|
|
|
NM_000044.6(AR):c.87C>T (p.Ser29=)
|
|
|
NM_000044.6(AR):c.882G>T (p.Leu294=)
|
|
|
NM_000044.6(AR):c.888C>T (p.Asp296=)
|
|
|
NM_000044.6(AR):c.894C>T (p.Ser298=)
|
|
|
NM_000044.6(AR):c.909T>C (p.Thr303=)
|
|
|
NM_000044.6(AR):c.914A>G (p.Asp305Gly)
|
|
|
NM_000044.6(AR):c.915T>C (p.Asp305=)
|
|
|
NM_000044.6(AR):c.921T>C (p.Ala307=)
|
|
|
NM_000044.6(AR):c.948C>T (p.Tyr316=)
|
|
|
NM_000044.6(AR):c.949A>G (p.Thr317Ala)
|
rs1555969722
|
|
NM_000044.6(AR):c.967G>T (p.Glu323Ter)
|
|
|
NM_000044.6(AR):c.980G>A (p.Cys327Tyr)
|
|
|
NM_000044.6(AR):c.983C>G (p.Ser328Cys)
|
rs1929717720
|
|
NM_000044.6(AR):c.986G>T (p.Gly329Val)
|
|
|