NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_005670.4(EPM2A):c.681C>T (p.Ala227=)
|
rs61758156
|
0.00057
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_005670.4(EPM2A):c.718+19C>G
|
rs370750611
|
0.00040
|
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)
|
rs142027344
|
0.00029
|
NM_005670.4(EPM2A):c.876G>A (p.Val292=)
|
rs774234576
|
0.00025
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)
|
rs200641543
|
0.00014
|
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)
|
rs61757376
|
0.00012
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)
|
rs141975071
|
0.00010
|
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)
|
rs753867771
|
0.00006
|
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His)
|
rs1393744393
|
0.00006
|
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
|
rs781291421
|
0.00006
|
NM_005670.4(EPM2A):c.984G>T (p.Val328=)
|
rs200996083
|
0.00006
|
NM_005670.4(EPM2A):c.348C>T (p.Asn116=)
|
rs760860945
|
0.00004
|
NM_005670.4(EPM2A):c.476+7A>G
|
rs756197281
|
0.00004
|
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
|
rs148475381
|
0.00004
|
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)
|
rs763098296
|
0.00004
|
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)
|
rs755742563
|
0.00004
|
NM_005670.4(EPM2A):c.918C>T (p.Asp306=)
|
rs375436219
|
0.00004
|
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
|
rs780826386
|
0.00004
|
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
|
rs376750373
|
0.00003
|
NM_005670.4(EPM2A):c.441T>C (p.Phe147=)
|
rs965931486
|
0.00003
|
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)
|
rs796052423
|
0.00003
|
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
|
rs748048885
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)
|
rs138798058
|
0.00003
|
NM_005670.4(EPM2A):c.762G>A (p.Ala254=)
|
rs199586710
|
0.00003
|
NM_005670.4(EPM2A):c.801C>T (p.Asn267=)
|
rs181746165
|
0.00003
|
NM_005670.4(EPM2A):c.807G>A (p.Gly269=)
|
rs755516128
|
0.00003
|
NM_005670.4(EPM2A):c.815G>A (p.Arg272His)
|
rs958366800
|
0.00003
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00003
|
NM_005670.4(EPM2A):c.936G>A (p.Arg312=)
|
rs773315475
|
0.00003
|
NM_005670.4(EPM2A):c.302-12T>C
|
rs771456156
|
0.00002
|
NM_005670.4(EPM2A):c.345C>T (p.Asn115=)
|
rs764231649
|
0.00002
|
NM_005670.4(EPM2A):c.352G>A (p.Val118Met)
|
rs903313803
|
0.00002
|
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)
|
rs796052430
|
0.00002
|
NM_005670.4(EPM2A):c.477-13A>G
|
rs778452911
|
0.00002
|
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)
|
rs777767978
|
0.00002
|
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)
|
rs367827948
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys)
|
rs373652439
|
0.00002
|
NM_005670.4(EPM2A):c.768G>A (p.Leu256=)
|
rs753561820
|
0.00002
|
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)
|
rs748514820
|
0.00002
|
NM_005670.4(EPM2A):c.825G>A (p.Ala275=)
|
rs762115387
|
0.00002
|
NM_005670.4(EPM2A):c.924G>A (p.Glu308=)
|
rs1439211009
|
0.00002
|
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)
|
rs766334722
|
0.00002
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser)
|
rs1448945231
|
0.00001
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
NM_005670.4(EPM2A):c.323G>A (p.Arg108His)
|
rs202234583
|
0.00001
|
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser)
|
rs1480939817
|
0.00001
|
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys)
|
rs757199020
|
0.00001
|
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)
|
rs773728573
|
0.00001
|
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
|
rs144204777
|
0.00001
|
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe)
|
rs1780893400
|
0.00001
|
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val)
|
rs753781421
|
0.00001
|
NM_005670.4(EPM2A):c.477-14T>C
|
rs914299630
|
0.00001
|
NM_005670.4(EPM2A):c.477-15A>G
|
rs542654431
|
0.00001
|
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val)
|
rs147645370
|
0.00001
|
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys)
|
rs371974399
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys)
|
rs191406622
|
0.00001
|
NM_005670.4(EPM2A):c.600G>T (p.Gln200His)
|
rs142658692
|
0.00001
|
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys)
|
rs186710183
|
0.00001
|
NM_005670.4(EPM2A):c.666G>A (p.Arg222=)
|
rs762189100
|
0.00001
|
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)
|
rs754313309
|
0.00001
|
NM_005670.4(EPM2A):c.714C>T (p.Thr238=)
|
rs762653955
|
0.00001
|
NM_005670.4(EPM2A):c.719-2A>T
|
rs772082648
|
0.00001
|
NM_005670.4(EPM2A):c.719-5C>T
|
rs768538455
|
0.00001
|
NM_005670.4(EPM2A):c.726A>G (p.Val242=)
|
rs1485448690
|
0.00001
|
NM_005670.4(EPM2A):c.744G>A (p.Ala248=)
|
rs538717552
|
0.00001
|
NM_005670.4(EPM2A):c.774G>A (p.Lys258=)
|
rs1014840416
|
0.00001
|
NM_005670.4(EPM2A):c.813C>T (p.Gly271=)
|
rs1162902926
|
0.00001
|
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)
|
rs765820100
|
0.00001
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)
|
rs1027738243
|
0.00001
|
NM_005670.4(EPM2A):c.834C>T (p.Cys278=)
|
rs759427349
|
0.00001
|
NM_005670.4(EPM2A):c.927C>G (p.Ala309=)
|
rs1181128980
|
0.00001
|
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln)
|
rs762852066
|
0.00001
|
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)
|
rs189479757
|
0.00001
|
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)
|
rs941854726
|
0.00001
|
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)
|
rs746413047
|
0.00001
|
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)
|
rs777308612
|
0.00001
|
NC_000006.11:g.(?_145948552)_(145956642_?)del
|
|
|
NC_000006.11:g.(?_146056334)_(146056634_?)del
|
|
|
NC_000006.12:g.(?_145625675)_(145635506_?)del
|
|
|
NC_000006.12:g.(?_145686102)_(145686316_?)del
|
|
|
NM_005670.4(EPM2A):c.302-17A>G
|
rs1286332017
|
|
NM_005670.4(EPM2A):c.302-20A>T
|
rs779211684
|
|
NM_005670.4(EPM2A):c.302-2A>G
|
rs780648601
|
|
NM_005670.4(EPM2A):c.302-4C>T
|
rs1780908908
|
|
NM_005670.4(EPM2A):c.302-7G>A
|
rs1780909090
|
|
NM_005670.4(EPM2A):c.314A>G (p.His105Arg)
|
rs1554263366
|
|
NM_005670.4(EPM2A):c.322del (p.Arg108fs)
|
rs2128614455
|
|
NM_005670.4(EPM2A):c.333T>C (p.Thr111=)
|
rs1780905564
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
|
|
|
NM_005670.4(EPM2A):c.360T>C (p.Gly120=)
|
rs2128614372
|
|
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
|
rs1780901751
|
|
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser)
|
rs1054138980
|
|
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala)
|
rs746523076
|
|
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
|
|
|
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
|
|
|
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met)
|
rs2128614175
|
|
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp)
|
rs1173939028
|
|
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr)
|
rs1199898061
|
|
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)
|
rs1554263320
|
|
NM_005670.4(EPM2A):c.476+19T>G
|
|
|
NM_005670.4(EPM2A):c.476+5A>G
|
rs1780888090
|
|
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
|
|
|
NM_005670.4(EPM2A):c.477-19C>T
|
|
|
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)
|
rs781291421
|
|
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)
|
rs1776588836
|
|
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
|
|
|
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg)
|
rs1776588357
|
|
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
|
|
|
NM_005670.4(EPM2A):c.525T>C (p.His175=)
|
rs2128562729
|
|
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro)
|
rs1490039469
|
|
NM_005670.4(EPM2A):c.546T>C (p.His182=)
|
rs1776583674
|
|
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
|
|
|
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.564T>G (p.Ala188=)
|
rs1342189516
|
|
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
|
|
|
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser)
|
rs2128562619
|
|
NM_005670.4(EPM2A):c.603T>C (p.Asn201=)
|
rs748995485
|
|
NM_005670.4(EPM2A):c.634A>G (p.Met212Val)
|
rs1562424241
|
|
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile)
|
rs1776570738
|
|
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
|
|
|
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr)
|
rs1554256996
|
|
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala)
|
rs1278542056
|
|
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile)
|
rs2128562483
|
|
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
|
|
|
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln)
|
rs1554256976
|
|
NM_005670.4(EPM2A):c.706A>G (p.Met236Val)
|
rs906096146
|
|
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr)
|
rs1776560298
|
|
NM_005670.4(EPM2A):c.714C>G (p.Thr238=)
|
rs762653955
|
|
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
|
|
|
NM_005670.4(EPM2A):c.719-15C>T
|
|
|
NM_005670.4(EPM2A):c.719-8del
|
|
|
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly)
|
rs104893950
|
|
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
|
rs749563452
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.758A>G (p.His253Arg)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.759T>C (p.His253=)
|
rs1775923559
|
|
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)
|
rs1775923311
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)
|
rs2128556216
|
|
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)
|
rs1351520468
|
|
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
|
|
|
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
|
|
|
NM_005670.4(EPM2A):c.784G>A (p.Val262Met)
|
rs1582913143
|
|
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
|
|
|
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
|
|
|
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
|
|
|
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
|
|
|
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)
|
rs201053542
|
|
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)
|
rs778069029
|
|
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)
|
rs1220880720
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)
|
rs367551823
|
|
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)
|
rs897601301
|
|
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
|
|
|
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
|
|
|
NM_005670.4(EPM2A):c.876G>T (p.Val292=)
|
rs774234576
|
|
NM_005670.4(EPM2A):c.894C>T (p.Ala298=)
|
rs1775904922
|
|
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr)
|
rs1050606699
|
|
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)
|
rs796052428
|
|
NM_005670.4(EPM2A):c.903G>A (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.903G>C (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
|
|
|
NM_005670.4(EPM2A):c.934dup (p.Arg312fs)
|
rs2128555980
|
|
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
|
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
|
|
|
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)
|
rs772620616
|
|
NM_005670.4(EPM2A):c.975T>C (p.Arg325=)
|
rs370469632
|
|
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)
|
rs1404589826
|
|
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)
|
rs768781694
|
|
NM_005670.4(EPM2A):c.981T>G (p.Ser327=)
|
rs2128555915
|
|
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
|
|
|