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.1886-60G>A
|
rs146283342
|
0.01144
|
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.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.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.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.1063G>C (p.Glu355Gln)
|
rs367604031
|
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.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
NM_000044.6(AR):c.1014A>C (p.Thr338=)
|
|
|
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
|
|
|
NM_000044.6(AR):c.1149C>T (p.Pro383=)
|
|
|
NM_000044.6(AR):c.1157G>A (p.Arg386His)
|
|
|
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
|
|
|
NM_000044.6(AR):c.1194C>T (p.Ala398=)
|
|
|
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
|
|
|
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
|
|
|
NM_000044.6(AR):c.1323C>G (p.Ala441=)
|
|
|
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[13] (p.Gly470_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup)
|
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.1443C>T (p.Tyr481=)
|
|
|
NM_000044.6(AR):c.1479G>A (p.Gln493=)
|
|
|
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
|
|
|
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
|
|
|
NM_000044.6(AR):c.1617-13dup
|
|
|
NM_000044.6(AR):c.1617-19G>T
|
|
|
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
|
|
|
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
|
|
|
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_000044.6(AR):c.1719A>G (p.Gly573=)
|
|
|
NM_000044.6(AR):c.1737C>T (p.Ser579=)
|
|
|
NM_000044.6(AR):c.1761C>T (p.Ala587=)
|
|
|
NM_000044.6(AR):c.1815T>C (p.Asp605=)
|
|
|
NM_000044.6(AR):c.1854G>A (p.Arg618=)
|
|
|
NM_000044.6(AR):c.1885+13T>C
|
|
|
NM_000044.6(AR):c.1886-10T>C
|
|
|
NM_000044.6(AR):c.1926G>A (p.Glu642=)
|
|
|
NM_000044.6(AR):c.2016C>A (p.Pro672=)
|
|
|
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
|
|
|
NM_000044.6(AR):c.2052T>C (p.Gly684=)
|
|
|
NM_000044.6(AR):c.2070C>T (p.His690=)
|
|
|
NM_000044.6(AR):c.2073C>T (p.Asp691=)
|
|
|
NM_000044.6(AR):c.2085C>T (p.Pro695=)
|
|
|
NM_000044.6(AR):c.2106C>T (p.Leu702=)
|
|
|
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
|
|
|
NM_000044.6(AR):c.2190C>T (p.His730=)
|
|
|
NM_000044.6(AR):c.2196C>T (p.Asp732=)
|
|
|
NM_000044.6(AR):c.2295C>T (p.Phe765=)
|
|
|
NM_000044.6(AR):c.2318+7G>T
|
|
|
NM_000044.6(AR):c.2319-10T>C
|
|
|
NM_000044.6(AR):c.2319-17G>A
|
|
|
NM_000044.6(AR):c.2319-9C>T
|
|
|
NM_000044.6(AR):c.2403C>T (p.Thr801=)
|
|
|
NM_000044.6(AR):c.2406C>A (p.Pro802=)
|
|
|
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
|
|
|
NM_000044.6(AR):c.2526C>T (p.Ile842=)
|
|
|
NM_000044.6(AR):c.2580C>A (p.Leu860=)
|
|
|
NM_000044.6(AR):c.2607+10C>T
|
|
|
NM_000044.6(AR):c.2607+12A>G
|
|
|
NM_000044.6(AR):c.2608-17C>T
|
|
|
NM_000044.6(AR):c.2608-17_2608-16del
|
rs749355366
|
|
NM_000044.6(AR):c.2608-6C>T
|
|
|
NM_000044.6(AR):c.2613G>A (p.Ala871=)
|
|
|
NM_000044.6(AR):c.2679G>A (p.Pro893=)
|
|
|
NM_000044.6(AR):c.302G>A (p.Arg101His)
|
|
|
NM_000044.6(AR):c.39G>A (p.Arg13=)
|
|
|
NM_000044.6(AR):c.414C>G (p.Ala138=)
|
|
|
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
|
|
|
NM_000044.6(AR):c.45G>A (p.Pro15=)
|
|
|
NM_000044.6(AR):c.462C>T (p.Asp154=)
|
|
|
NM_000044.6(AR):c.519C>G (p.Gly173=)
|
|
|
NM_000044.6(AR):c.609C>A (p.Ser203=)
|
|
|
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
|
|
|
NM_000044.6(AR):c.646G>A (p.Gly216Arg)
|
rs199554641
|
|
NM_000044.6(AR):c.654C>T (p.Pro218=)
|
rs751027309
|
|
NM_000044.6(AR):c.747G>A (p.Leu249=)
|
|
|
NM_000044.6(AR):c.807C>T (p.Tyr269=)
|
|
|
NM_000044.6(AR):c.986G>T (p.Gly329Val)
|
|
|
NM_000044.6:c.1363GGT[2_4]GGC[12_29]
|
|
|