NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_000506.5(F2):c.494C>T (p.Thr165Met)
|
rs5896
|
0.13207
|
NM_000506.5(F2):c.1233G>A (p.Pro411=)
|
rs5898
|
0.06671
|
NM_000506.5(F2):c.480C>T (p.Pro160=)
|
rs3136452
|
0.04324
|
NM_000506.5(F2):c.79+7G>A
|
rs3136431
|
0.02419
|
NM_000506.5(F2):c.1602G>A (p.Pro534=)
|
rs5900
|
0.01567
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_000506.5(F2):c.813C>T (p.Gly271=)
|
rs5899
|
0.00654
|
NM_000506.5(F2):c.1824C>T (p.Arg608=)
|
rs3136532
|
0.00472
|
NM_000506.5(F2):c.1857G>A (p.Gln619=)
|
rs113406770
|
0.00300
|
NM_000506.5(F2):c.1298+11G>C
|
rs144587241
|
0.00191
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
NM_000506.5(F2):c.1628G>T (p.Arg543Leu)
|
rs143064939
|
0.00121
|
NM_000506.5(F2):c.843C>T (p.Gly281=)
|
rs147699032
|
0.00076
|
NM_000506.5(F2):c.1541A>G (p.Asn514Ser)
|
rs144011338
|
0.00056
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
NM_000506.5(F2):c.191C>T (p.Thr64Met)
|
rs142001812
|
0.00051
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00031
|
NM_000506.5(F2):c.371G>A (p.Arg124Gln)
|
rs139148365
|
0.00022
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
NM_000506.5(F2):c.798C>T (p.Asp266=)
|
rs138260543
|
0.00019
|
NM_000506.5(F2):c.1212C>T (p.Ala404=)
|
rs148544390
|
0.00014
|
NM_000506.5(F2):c.559+5G>A
|
rs376151472
|
0.00014
|
NM_000506.5(F2):c.*9T>G
|
rs201577861
|
0.00011
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
NM_000506.5(F2):c.1299-10G>A
|
rs370136934
|
0.00004
|
NM_000506.5(F2):c.180C>T (p.Cys60=)
|
rs374353447
|
0.00004
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
NM_000506.5(F2):c.342G>A (p.Thr114=)
|
rs764153743
|
0.00004
|
NM_000506.5(F2):c.814G>A (p.Val272Met)
|
rs199558597
|
0.00004
|
NM_000506.5(F2):c.992C>T (p.Ser331Leu)
|
rs200812621
|
0.00004
|
NM_000506.5(F2):c.*44G>T
|
rs759287343
|
0.00003
|
NM_000506.5(F2):c.1298+19G>A
|
rs753976233
|
0.00003
|
NM_000506.5(F2):c.874+13G>A
|
rs764029414
|
0.00003
|
NM_000506.5(F2):c.261C>T (p.Tyr87=)
|
rs201347110
|
0.00002
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
NM_000506.3(F2):c.1054G>A (p.Glu352Lys)
|
rs121918484
|
0.00001
|
NM_000506.3(F2):c.1381C>T (p.Arg461Trp)
|
rs121918478
|
0.00001
|
NM_000506.5(F2):c.1037C>T (p.Ser346Leu)
|
rs552341778
|
0.00001
|
NM_000506.5(F2):c.201C>T (p.Tyr67=)
|
rs776998025
|
0.00001
|
NM_000506.5(F2):c.260A>G (p.Tyr87Cys)
|
rs1227147475
|
0.00001
|
NM_000506.5(F2):c.730G>T (p.Ala244Ser)
|
rs886048334
|
0.00001
|
NM_000506.5(F2):c.915G>A (p.Glu305=)
|
rs886048335
|
0.00001
|
NM_000506.3(F2):c.1027G>A (p.Glu343Lys)
|
rs121918483
|
|
NM_000506.3(F2):c.1139T>C (p.Met380Thr)
|
rs121918481
|
|
NM_000506.3(F2):c.1273C>T (p.Arg425Cys)
|
rs121918479
|
|
NM_000506.3(F2):c.1785C>G (p.Asp595Glu)
|
rs121918486
|
|
NM_000506.3(F2):c.1802G>T (p.Gly601Val)
|
rs121918480
|
|
NM_000506.3(F2):c.940C>T (p.Arg314Cys)
|
rs121918477
|
|
NM_000506.4(F2):c.*100C>A
|
rs112016113
|
|
NM_000506.5(F2):c.1003+15A>G
|
|
|
NM_000506.5(F2):c.1003+18C>T
|
|
|
NM_000506.5(F2):c.1003+19G>A
|
|
|
NM_000506.5(F2):c.1003+19G>C
|
|
|
NM_000506.5(F2):c.1003+19G>T
|
|
|
NM_000506.5(F2):c.1004-12C>T
|
|
|
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
|
|
|
NM_000506.5(F2):c.1026C>T (p.Phe342=)
|
|
|
NM_000506.5(F2):c.1029G>A (p.Glu343=)
|
|
|
NM_000506.5(F2):c.1038G>A (p.Ser346=)
|
|
|
NM_000506.5(F2):c.1038G>T (p.Ser346=)
|
|
|
NM_000506.5(F2):c.105G>A (p.Arg35=)
|
|
|
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)
|
rs2134533215
|
|
NM_000506.5(F2):c.1080C>T (p.Ile360=)
|
|
|
NM_000506.5(F2):c.1088G>A (p.Arg363His)
|
|
|
NM_000506.5(F2):c.108G>A (p.Ser36=)
|
|
|
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
|
|
|
NM_000506.5(F2):c.1094T>A (p.Val365Glu)
|
rs747234596
|
|
NM_000506.5(F2):c.1116C>T (p.Ile372=)
|
|
|
NM_000506.5(F2):c.1130+11G>A
|
|
|
NM_000506.5(F2):c.1130+19C>A
|
|
|
NM_000506.5(F2):c.1130+19C>T
|
|
|
NM_000506.5(F2):c.1130+20G>A
|
|
|
NM_000506.5(F2):c.1130+8C>T
|
|
|
NM_000506.5(F2):c.1130+9T>C
|
|
|
NM_000506.5(F2):c.1131-16C>T
|
|
|
NM_000506.5(F2):c.1131-18_1131-15del
|
|
|
NM_000506.5(F2):c.1131-5C>T
|
rs1255363601
|
|
NM_000506.5(F2):c.1131-9C>T
|
|
|
NM_000506.5(F2):c.1158C>G (p.Pro386=)
|
|
|
NM_000506.5(F2):c.1159C>T (p.Gln387Ter)
|
rs2064886777
|
|
NM_000506.5(F2):c.1164G>A (p.Glu388=)
|
|
|
NM_000506.5(F2):c.1167G>T (p.Leu389=)
|
|
|
NM_000506.5(F2):c.1203C>A (p.Val401=)
|
|
|
NM_000506.5(F2):c.1209C>T (p.Thr403=)
|
|
|
NM_000506.5(F2):c.1224C>T (p.Leu408=)
|
|
|
NM_000506.5(F2):c.1225C>T (p.Leu409=)
|
|
|
NM_000506.5(F2):c.1227G>T (p.Leu409=)
|
|
|
NM_000506.5(F2):c.124C>T (p.Arg42Trp)
|
|
|
NM_000506.5(F2):c.1251C>T (p.Phe417=)
|
|
|
NM_000506.5(F2):c.1254C>T (p.Thr418=)
|
|
|
NM_000506.5(F2):c.1270G>A (p.Val424Met)
|
rs1310397756
|
|
NM_000506.5(F2):c.1274G>A (p.Arg425His)
|
rs121918485
|
|
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
|
|
|
NM_000506.5(F2):c.1287C>T (p.His429=)
|
|
|
NM_000506.5(F2):c.1298+14G>A
|
|
|
NM_000506.5(F2):c.1299-15T>C
|
|
|
NM_000506.5(F2):c.1299-17T>C
|
|
|
NM_000506.5(F2):c.1299-17T>G
|
|
|
NM_000506.5(F2):c.1299-17_1299-14del
|
|
|
NM_000506.5(F2):c.1299-6C>T
|
|
|
NM_000506.5(F2):c.1302C>T (p.Tyr434=)
|
|
|
NM_000506.5(F2):c.1347C>A (p.Ile449=)
|
|
|
NM_000506.5(F2):c.1351C>A (p.Pro451Thr)
|
|
|
NM_000506.5(F2):c.135C>T (p.Asn45=)
|
|
|
NM_000506.5(F2):c.1362C>T (p.Asn454=)
|
|
|
NM_000506.5(F2):c.1389T>C (p.Ile463=)
|
|
|
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
|
|
|
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
|
|
|
NM_000506.5(F2):c.1413T>C (p.Pro471=)
|
|
|
NM_000506.5(F2):c.1434T>C (p.Ile478=)
|
|
|
NM_000506.5(F2):c.1437C>T (p.His479=)
|
|
|
NM_000506.5(F2):c.1449G>A (p.Leu483=)
|
|
|
NM_000506.5(F2):c.1455C>T (p.Asp485=)
|
|
|
NM_000506.5(F2):c.1472+18T>C
|
|
|
NM_000506.5(F2):c.1472+9C>T
|
rs886048336
|
|
NM_000506.5(F2):c.1473-20C>T
|
|
|
NM_000506.5(F2):c.1473-8C>T
|
|
|
NM_000506.5(F2):c.1476G>A (p.Leu492=)
|
|
|
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)
|
rs2134537035
|
|
NM_000506.5(F2):c.1499G>A (p.Arg500Gln)
|
rs202003146
|
|
NM_000506.5(F2):c.1530G>A (p.Thr510=)
|
|
|
NM_000506.5(F2):c.153G>A (p.Val51=)
|
|
|
NM_000506.5(F2):c.1542C>A (p.Asn514Lys)
|
|
|
NM_000506.5(F2):c.1567C>T (p.Leu523=)
|
rs886048337
|
|
NM_000506.5(F2):c.1581C>T (p.Asn527=)
|
|
|
NM_000506.5(F2):c.1597C>A (p.Arg533=)
|
|
|
NM_000506.5(F2):c.1598G>A (p.Arg533Gln)
|
rs1361766713
|
|
NM_000506.5(F2):c.1621C>A (p.Arg541=)
|
rs886048338
|
|
NM_000506.5(F2):c.1635T>G (p.Thr545=)
|
|
|
NM_000506.5(F2):c.1654+17C>G
|
|
|
NM_000506.5(F2):c.1654+17C>T
|
|
|
NM_000506.5(F2):c.1654+18G>A
|
|
|
NM_000506.5(F2):c.1655-13G>A
|
|
|
NM_000506.5(F2):c.1655-17G>A
|
|
|
NM_000506.5(F2):c.1655-18C>T
|
|
|
NM_000506.5(F2):c.1662G>A (p.Lys554=)
|
|
|
NM_000506.5(F2):c.1668T>C (p.Asp556=)
|
|
|
NM_000506.5(F2):c.1678C>A (p.Arg560=)
|
|
|
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
|
|
|
NM_000506.5(F2):c.1704T>C (p.Ser568=)
|
|
|
NM_000506.5(F2):c.1707G>A (p.Gly569=)
|
|
|
NM_000506.5(F2):c.1716T>C (p.Phe572=)
|
|
|
NM_000506.5(F2):c.1725+17C>T
|
|
|
NM_000506.5(F2):c.1725+18C>T
|
|
|
NM_000506.5(F2):c.1725+19C>T
|
|
|
NM_000506.5(F2):c.1725+9C>T
|
|
|
NM_000506.5(F2):c.1726-11TTC[2]
|
|
|
NM_000506.5(F2):c.1726-20A>C
|
|
|
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
|
|
|
NM_000506.5(F2):c.174A>G (p.Arg58=)
|
|
|
NM_000506.5(F2):c.1761C>T (p.Ile587=)
|
|
|
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
|
|
|
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)
|
rs387907201
|
|
NM_000506.5(F2):c.1791T>C (p.Asp597=)
|
rs1592422668
|
|
NM_000506.5(F2):c.1806C>T (p.Phe602=)
|
|
|
NM_000506.5(F2):c.192G>A (p.Thr64=)
|
|
|
NM_000506.5(F2):c.192G>C (p.Thr64=)
|
|
|
NM_000506.5(F2):c.19T>C (p.Leu7=)
|
|
|
NM_000506.5(F2):c.207G>A (p.Glu69=)
|
|
|
NM_000506.5(F2):c.210C>T (p.Ala70=)
|
|
|
NM_000506.5(F2):c.213C>T (p.Phe71=)
|
|
|
NM_000506.5(F2):c.216G>A (p.Glu72=)
|
|
|
NM_000506.5(F2):c.228C>G (p.Ser76=)
|
|
|
NM_000506.5(F2):c.240+17C>T
|
|
|
NM_000506.5(F2):c.240+18G>A
|
|
|
NM_000506.5(F2):c.240+18G>C
|
|
|
NM_000506.5(F2):c.240+7C>T
|
|
|
NM_000506.5(F2):c.241-17C>T
|
|
|
NM_000506.5(F2):c.241-18C>T
|
|
|
NM_000506.5(F2):c.265+10G>A
|
|
|
NM_000506.5(F2):c.265+6dup
|
|
|
NM_000506.5(F2):c.265+8C>T
|
|
|
NM_000506.5(F2):c.265+9C>T
|
|
|
NM_000506.5(F2):c.279G>A (p.Ala93=)
|
|
|
NM_000506.5(F2):c.316+15C>T
|
|
|
NM_000506.5(F2):c.316+16G>A
|
|
|
NM_000506.5(F2):c.316+18G>A
|
|
|
NM_000506.5(F2):c.316+8A>C
|
|
|
NM_000506.5(F2):c.317-12G>C
|
|
|
NM_000506.5(F2):c.317-14T>C
|
|
|
NM_000506.5(F2):c.317-15G>A
|
|
|
NM_000506.5(F2):c.317-18G>A
|
|
|
NM_000506.5(F2):c.317-19C>T
|
|
|
NM_000506.5(F2):c.317-5C>T
|
|
|
NM_000506.5(F2):c.321C>T (p.Asn107=)
|
|
|
NM_000506.5(F2):c.327T>C (p.Ala109=)
|
|
|
NM_000506.5(F2):c.348C>T (p.Tyr116=)
|
|
|
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
|
|
|
NM_000506.5(F2):c.369C>T (p.Thr123=)
|
|
|
NM_000506.5(F2):c.392dup (p.Trp132fs)
|
|
|
NM_000506.5(F2):c.393A>G (p.Leu131=)
|
|
|
NM_000506.5(F2):c.422+14C>T
|
|
|
NM_000506.5(F2):c.422+1G>A
|
|
|
NM_000506.5(F2):c.423-11T>G
|
|
|
NM_000506.5(F2):c.423-13T>A
|
|
|
NM_000506.5(F2):c.423-19G>T
|
|
|
NM_000506.5(F2):c.423-4C>G
|
|
|
NM_000506.5(F2):c.423-7G>C
|
rs2070852
|
|
NM_000506.5(F2):c.450C>T (p.Ala150=)
|
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
NM_000506.5(F2):c.462_463insT (p.Asn155Ter)
|
rs387906522
|
|
NM_000506.5(F2):c.501C>T (p.Pro167=)
|
|
|
NM_000506.5(F2):c.516A>C (p.Thr172=)
|
|
|
NM_000506.5(F2):c.517G>C (p.Asp173His)
|
|
|
NM_000506.5(F2):c.522C>T (p.Pro174=)
|
|
|
NM_000506.5(F2):c.525C>T (p.Thr175=)
|
|
|
NM_000506.5(F2):c.533G>T (p.Arg178Met)
|
rs2134528259
|
|
NM_000506.5(F2):c.534G>A (p.Arg178=)
|
|
|
NM_000506.5(F2):c.549C>A (p.Ile183=)
|
|
|
NM_000506.5(F2):c.558T>C (p.Cys186=)
|
|
|
NM_000506.5(F2):c.559+12G>T
|
|
|
NM_000506.5(F2):c.559+19G>A
|
|
|
NM_000506.5(F2):c.559+20G>T
|
|
|
NM_000506.5(F2):c.560-15C>T
|
|
|
NM_000506.5(F2):c.560-19C>G
|
|
|
NM_000506.5(F2):c.560-6C>T
|
|
|
NM_000506.5(F2):c.560-7C>T
|
|
|
NM_000506.5(F2):c.582G>A (p.Ala194=)
|
|
|
NM_000506.5(F2):c.594C>T (p.Arg198=)
|
|
|
NM_000506.5(F2):c.597C>T (p.Ser199=)
|
|
|
NM_000506.5(F2):c.607A>G (p.Ser203Gly)
|
rs2064868698
|
|
NM_000506.5(F2):c.627A>G (p.Pro209=)
|
|
|
NM_000506.5(F2):c.648T>C (p.Asp216=)
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NM_000506.5(F2):c.648T>G (p.Asp216Glu)
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NM_000506.5(F2):c.650G>A (p.Arg217Gln)
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NM_000506.5(F2):c.669G>A (p.Gly223=)
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NM_000506.5(F2):c.678G>A (p.Ala226=)
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NM_000506.5(F2):c.696C>T (p.Leu232=)
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NM_000506.5(F2):c.69C>T (p.His23=)
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NM_000506.5(F2):c.6G>A (p.Ala2=)
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NM_000506.5(F2):c.708C>T (p.Ala236=)
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NM_000506.5(F2):c.717C>T (p.Ser239=)
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NM_000506.5(F2):c.762T>C (p.Ala254=)
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NM_000506.5(F2):c.789C>T (p.Arg263=)
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NM_000506.5(F2):c.79+10T>C
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NM_000506.5(F2):c.79+15G>A
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NM_000506.5(F2):c.79+15G>T
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NM_000506.5(F2):c.79+17A>G
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NM_000506.5(F2):c.792C>T (p.Asn264=)
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NM_000506.5(F2):c.80-10C>T
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NM_000506.5(F2):c.80-12A>C
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NM_000506.5(F2):c.80-12A>G
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NM_000506.5(F2):c.80-12dup
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NM_000506.5(F2):c.80-13C>G
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NM_000506.5(F2):c.80-13C>T
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NM_000506.5(F2):c.80-13dup
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NM_000506.5(F2):c.80-14C>T
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NM_000506.5(F2):c.80-18C>A
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NM_000506.5(F2):c.80-18C>G
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NM_000506.5(F2):c.80-9G>A
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NM_000506.5(F2):c.801G>T (p.Gly267=)
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NM_000506.5(F2):c.813C>G (p.Gly271=)
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NM_000506.5(F2):c.831C>T (p.Ala277=)
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NM_000506.5(F2):c.843C>A (p.Gly281=)
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NM_000506.5(F2):c.870T>C (p.Tyr290=)
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NM_000506.5(F2):c.874+11dup
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NM_000506.5(F2):c.874+16A>G
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NM_000506.5(F2):c.874+20_874+35dup
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NM_000506.5(F2):c.875-19G>A
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NM_000506.5(F2):c.875-20C>T
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NM_000506.5(F2):c.875-7C>T
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NM_000506.5(F2):c.879G>A (p.Glu293=)
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NM_000506.5(F2):c.923_926del (p.Asp308fs)
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NM_000506.5(F2):c.933C>T (p.Ile311=)
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NM_000506.5(F2):c.934G>A (p.Glu312Lys)
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NM_000506.5(F2):c.936A>G (p.Glu312=)
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NM_000506.5(F2):c.948C>A (p.Ala316=)
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NM_000506.5(F2):c.948C>T (p.Ala316=)
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NM_000506.5(F2):c.954T>G (p.Ser318Arg)
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rs2134532792
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NM_000506.5(F2):c.954dup (p.Glu319Ter)
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NM_000506.5(F2):c.984C>T (p.Thr328=)
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NM_000506.5(F2):c.993G>A (p.Ser331=)
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NM_000506.5(F2):c.995G>C (p.Gly332Ala)
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rs2134532862
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NM_000506.5(F2):c.999G>A (p.Glu333=)
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