NM_000044.6(AR):c.475G>A (p.Ala159Thr)
|
rs370215797
|
0.00014
|
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.1185C>A (p.Tyr395Ter)
|
rs1555969807
|
|
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.1688G>A (p.Cys563Tyr)
|
rs1555982860
|
|
NM_000044.6(AR):c.1732G>A (p.Gly578Arg)
|
rs137852596
|
|
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.1748T>A (p.Phe583Tyr)
|
rs137852587
|
|
NM_000044.6(AR):c.175C>T (p.Gln59Ter)
|
rs1929657778
|
|
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.179dup (p.Gln61fs)
|
rs759327087
|
|
NM_000044.6(AR):c.180_181del (p.Gln61fs)
|
rs869320731
|
|
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
|
rs1555990485
|
|
NM_000044.6(AR):c.1888del (p.Arg630fs)
|
rs1555995750
|
|
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.2086G>A (p.Asp696Asn)
|
rs1555995840
|
|
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.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.2226G>A (p.Trp742Ter)
|
rs2147530793
|
|
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.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.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.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.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.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.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.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.329_333del (p.Leu110fs)
|
|
|
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.865G>T (p.Glu289Ter)
|
rs750324117
|
|