NM_000044.6(AR):c.639G>A (p.Glu213=)
|
rs6152
|
0.28599
|
NM_000044.6(AR):c.1886-60G>A
|
rs146283342
|
0.01144
|
NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)
|
rs148062883
|
0.00202
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
NM_000044.6(AR):c.1153G>T (p.Ala385Ser)
|
rs200067740
|
0.00018
|
NM_000044.6(AR):c.475G>A (p.Ala159Thr)
|
rs370215797
|
0.00014
|
NM_000044.6(AR):c.1513C>A (p.Pro505Thr)
|
rs764238988
|
0.00002
|
NM_000044.6(AR):c.2157G>A (p.Trp719Ter)
|
rs137852563
|
0.00001
|
NM_000044.6(AR):c.2343G>A (p.Met781Ile)
|
rs137852589
|
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
|
AR, PARTIAL DEL
|
|
|
NC_000023.10:g.(66766605_66863097)_(66863250_66905851)del
|
|
|
NG_009014.2:g.(7732_?)del
|
|
|
NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
|
|
|
NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
|
|
|
NM_000044.6(AR):c.1063G>T (p.Glu355Ter)
|
rs367604031
|
|
NM_000044.6(AR):c.1181_1200dup (p.Ala401fs)
|
|
|
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter)
|
rs1555969807
|
|
NM_000044.6(AR):c.1341T>A (p.Tyr447Ter)
|
|
|
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1396_1397insAG (p.Gly466fs)
|
|
|
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)
|
rs766161615
|
|
NM_000044.6(AR):c.1531A>T (p.Arg511Ter)
|
|
|
NM_000044.6(AR):c.1567G>T (p.Glu523Ter)
|
rs2147323184
|
|
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
|
|
|
NM_000044.6(AR):c.1616+1_1616+3delinsT
|
|
|
NM_000044.6(AR):c.1685T>C (p.Ile562Thr)
|
rs886041050
|
|
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr)
|
rs1555982860
|
|
NM_000044.6(AR):c.1693G>C (p.Asp565His)
|
|
|
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)
|
rs1925886715
|
|
NM_000044.6(AR):c.1732G>A (p.Gly578Arg)
|
rs137852596
|
|
NM_000044.6(AR):c.1737C>A (p.Ser579Arg)
|
|
|
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr)
|
rs137852586
|
|
NM_000044.6(AR):c.1739G>T (p.Cys580Phe)
|
rs137852586
|
|
NM_000044.6(AR):c.1742A>C (p.Lys581Thr)
|
rs2147436623
|
|
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr)
|
rs137852587
|
|
NM_000044.6(AR):c.1749C>G (p.Phe583Leu)
|
|
|
NM_000044.6(AR):c.175C>T (p.Gln59Ter)
|
rs1929657778
|
|
NM_000044.6(AR):c.1762G>C (p.Ala588Pro)
|
rs1034866440
|
|
NM_000044.6(AR):c.1768+1G>A
|
rs2147436755
|
|
NM_000044.6(AR):c.1768+2T>C
|
rs1555982894
|
|
NM_000044.6(AR):c.1771A>T (p.Lys591Ter)
|
rs137852566
|
|
NM_000044.6(AR):c.178C>T (p.Gln60Ter)
|
rs137852575
|
|
NM_000044.6(AR):c.1793G>T (p.Ser598Ile)
|
|
|
NM_000044.6(AR):c.179dup (p.Gln61fs)
|
rs759327087
|
|
NM_000044.6(AR):c.180_181del (p.Gln61fs)
|
rs869320731
|
|
NM_000044.6(AR):c.1814A>G (p.Asp605Gly)
|
rs1555990478
|
|
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
|
rs1555990485
|
|
NM_000044.6(AR):c.1873A>G (p.Met625Val)
|
|
|
NM_000044.6(AR):c.1888del (p.Arg630fs)
|
rs1555995750
|
|
NM_000044.6(AR):c.1933G>T (p.Glu645Ter)
|
|
|
NM_000044.6(AR):c.2033T>C (p.Leu678Pro)
|
rs137852579
|
|
NM_000044.6(AR):c.2044G>A (p.Glu682Lys)
|
rs1555995816
|
|
NM_000044.6(AR):c.2069A>C (p.His690Pro)
|
rs137852599
|
|
NM_000044.6(AR):c.2072A>G (p.Asp691Gly)
|
|
|
NM_000044.6(AR):c.2076C>A (p.Asn692Lys)
|
rs2147524930
|
|
NM_000044.6(AR):c.2079C>G (p.Asn693Lys)
|
|
|
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)
|
rs1555995840
|
|
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr)
|
rs1555995842
|
|
NM_000044.6(AR):c.2104C>T (p.Leu702Phe)
|
rs1555995851
|
|
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)
|
rs925822435
|
|
NM_000044.6(AR):c.2123T>G (p.Leu708Arg)
|
rs137852585
|
|
NM_000044.6(AR):c.2126G>A (p.Gly709Glu)
|
rs2147525149
|
|
NM_000044.6(AR):c.2137C>T (p.Leu713Phe)
|
rs137852595
|
|
NM_000044.6(AR):c.214C>T (p.Gln72Ter)
|
rs1555969512
|
|
NM_000044.6(AR):c.2155T>C (p.Trp719Arg)
|
rs1555995865
|
|
NM_000044.6(AR):c.2159C>T (p.Ala720Val)
|
rs2076094679
|
|
NM_000044.6(AR):c.2160del (p.Lys721fs)
|
rs1602272697
|
|
NM_000044.6(AR):c.2170C>T (p.Pro724Ser)
|
rs2147525357
|
|
NM_000044.6(AR):c.2171C>T (p.Pro724Leu)
|
rs1555995877
|
|
NM_000044.6(AR):c.217C>T (p.Gln73Ter)
|
rs1199988820
|
|
NM_000044.6(AR):c.220C>T (p.Gln74Ter)
|
rs886041129
|
|
NM_000044.6(AR):c.2221T>C (p.Ser741Pro)
|
|
|
NM_000044.6(AR):c.2226G>A (p.Trp742Ter)
|
rs2147530793
|
|
NM_000044.6(AR):c.2227A>G (p.Met743Val)
|
rs2147530802
|
|
NM_000044.6(AR):c.2231G>A (p.Gly744Glu)
|
rs137852600
|
|
NM_000044.6(AR):c.2231G>T (p.Gly744Val)
|
rs137852600
|
|
NM_000044.6(AR):c.2237T>C (p.Met746Thr)
|
rs2147530857
|
|
NM_000044.6(AR):c.2255G>A (p.Trp752Ter)
|
rs2147530924
|
|
NM_000044.6(AR):c.2255G>C (p.Trp752Ser)
|
rs2147530924
|
|
NM_000044.6(AR):c.2257C>T (p.Arg753Ter)
|
rs886039558
|
|
NM_000044.6(AR):c.2258G>A (p.Arg753Gln)
|
rs1057523747
|
|
NM_000044.6(AR):c.2266del (p.Thr756fs)
|
rs1555996855
|
|
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs)
|
rs869320732
|
|
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)
|
rs1555996863
|
|
NM_000044.6(AR):c.2299C>G (p.Pro767Ala)
|
rs1555996867
|
|
NM_000044.6(AR):c.2301del (p.Asp768fs)
|
rs886041131
|
|
NM_000044.6(AR):c.2309T>G (p.Val770Gly)
|
rs1555996870
|
|
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.2338C>T (p.Arg780Trp)
|
rs2076137289
|
|
NM_000044.6(AR):c.2339G>C (p.Arg780Pro)
|
|
|
NM_000044.6(AR):c.2342T>A (p.Met781Lys)
|
rs2076137339
|
|
NM_000044.6(AR):c.2343G>T (p.Met781Ile)
|
rs137852589
|
|
NM_000044.6(AR):c.2362A>G (p.Met788Val)
|
rs137852570
|
|
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)
|
rs137852565
|
|
NM_000044.6(AR):c.2407dup (p.Gln803fs)
|
rs2147535891
|
|
NM_000044.6(AR):c.2437C>T (p.Leu813Phe)
|
rs1555997625
|
|
NM_000044.6(AR):c.2449+1G>A
|
|
|
NM_000044.6(AR):c.2449+1_2449+3dup
|
|
|
NM_000044.6(AR):c.2450-6C>G
|
rs754515125
|
|
NM_000044.6(AR):c.2484T>A (p.Phe828Leu)
|
|
|
NM_000044.6(AR):c.2494C>G (p.Arg832Gly)
|
rs2147537840
|
|
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)
|
rs1386577803
|
|
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter)
|
rs2147537887
|
|
NM_000044.6(AR):c.2507T>G (p.Ile836Ser)
|
rs2076141961
|
|
NM_000044.6(AR):c.2512G>A (p.Glu838Lys)
|
rs1555997775
|
|
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.2528T>C (p.Ile843Thr)
|
rs9332970
|
|
NM_000044.6(AR):c.2562_2563del (p.Arg855fs)
|
rs1555997799
|
|
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.2570_2572del (p.Phe857del)
|
rs2076142436
|
|
NM_000044.6(AR):c.2571C>G (p.Phe857Leu)
|
rs137852598
|
|
NM_000044.6(AR):c.2593G>A (p.Asp865Asn)
|
rs1555997810
|
|
NM_000044.6(AR):c.2596T>C (p.Ser866Pro)
|
rs137852597
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2607+2T>G
|
rs2147538369
|
|
NM_000044.6(AR):c.2613del (p.Arg872fs)
|
rs1555998085
|
|
NM_000044.6(AR):c.2633C>T (p.Thr878Ile)
|
rs137852580
|
|
NM_000044.6(AR):c.2636T>C (p.Phe879Ser)
|
|
|
NM_000044.6(AR):c.2650A>T (p.Lys884Ter)
|
rs137852568
|
|
NM_000044.6(AR):c.2657A>T (p.His886Leu)
|
rs2147540378
|
|
NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
|
NM_000044.6(AR):c.2683ATG[1] (p.Met896del)
|
rs1555998102
|
|
NM_000044.6(AR):c.2710G>T (p.Val904Leu)
|
rs2147540656
|
|
NM_000044.6(AR):c.2720_2721del (p.Ile907fs)
|
rs1555998114
|
|
NM_000044.6(AR):c.2726C>T (p.Ser909Phe)
|
rs2147540747
|
|
NM_000044.6(AR):c.2747A>C (p.Tyr916Ser)
|
rs2076147482
|
|
NM_000044.6(AR):c.329_333del (p.Leu110fs)
|
|
|
NM_000044.6(AR):c.35del (p.Pro12fs)
|
|
|
NM_000044.6(AR):c.646G>A (p.Gly216Arg)
|
rs199554641
|
|
NM_000044.6(AR):c.743G>T (p.Gly248Val)
|
rs1555969682
|
|
NM_000044.6(AR):c.754G>T (p.Glu252Ter)
|
|
|
NM_000044.6(AR):c.796dup (p.Asp266fs)
|
rs1555969694
|
|
NM_000044.6(AR):c.847C>T (p.Pro283Ser)
|
rs1929708922
|
|
NM_000044.6(AR):c.865G>T (p.Glu289Ter)
|
rs750324117
|
|
NM_000044.6(AR):c.882G>T (p.Leu294=)
|
|
|
NM_000044.6:c.1363GGT[2_4]GGC[12_29]
|
|
|