NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
0.00024
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_153717.3(EVC):c.299A>G (p.Asp100Gly)
|
rs1282571678
|
0.00011
|
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)
|
rs145645536
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp)
|
rs748220728
|
0.00004
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys)
|
rs771560788
|
0.00003
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
NM_153717.3(EVC):c.461A>G (p.Glu154Gly)
|
rs1386247667
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys)
|
rs756430334
|
0.00002
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
NM_153717.3(EVC):c.187C>G (p.Gln63Glu)
|
rs371329240
|
0.00002
|
NM_153717.3(EVC):c.188A>G (p.Gln63Arg)
|
rs772017175
|
0.00002
|
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys)
|
rs745451709
|
0.00002
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.626T>C (p.Val209Ala)
|
rs1230866971
|
0.00002
|
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
NM_153717.3(EVC):c.1283C>T (p.Ala428Val)
|
rs1409088904
|
0.00001
|
NM_153717.3(EVC):c.1316-10T>A
|
rs1730755993
|
0.00001
|
NM_153717.3(EVC):c.136C>T (p.Leu46Phe)
|
rs1246844384
|
0.00001
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.1638G>T (p.Met546Ile)
|
rs1225766769
|
0.00001
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
0.00001
|
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
|
rs1373148885
|
0.00001
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)
|
rs367968708
|
0.00001
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)
|
rs1395596111
|
0.00001
|
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
|
rs930402783
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
|
rs771505230
|
0.00001
|
NM_153717.3(EVC):c.340G>A (p.Ala114Thr)
|
rs756208272
|
0.00001
|
NM_153717.3(EVC):c.49G>A (p.Gly17Arg)
|
rs1722991667
|
0.00001
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
NM_153717.3(EVC):c.853A>G (p.Met285Val)
|
rs1464387798
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NC_000004.11:g.(?_5720955)_(5721120_?)del
|
|
|
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
|
|
|
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
|
rs1560259105
|
|
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
|
rs1729670311
|
|
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
|
|
|
NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
|
rs1397539769
|
|
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
|
|
|
NM_153717.3(EVC):c.1141G>A (p.Val381Met)
|
rs2152076238
|
|
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1])
|
rs1164121689
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
|
|
|
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
|
|
|
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
|
|
|
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
|
|
|
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
|
|
|
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
|
rs1577440027
|
|
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
|
|
|
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
|
|
|
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
|
|
|
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
|
rs1309149029
|
|
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
|
|
|
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
|
|
|
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
|
|
|
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
|
|
|
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
|
|
|
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
|
|
|
NM_153717.3(EVC):c.1528G>C (p.Val510Leu)
|
rs143971158
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
|
|
|
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
|
|
|
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
|
|
|
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
|
|
|
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
|
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
|
|
|
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
|
|
|
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
|
|
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
|
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
|
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
|
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
|
|
|
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
|
rs1713205522
|
|
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
|
|
|
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
|
|
|
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
|
|
|
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
|
|
|
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
|
|
|
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)
|
rs535632933
|
|
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
|
|
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
|
|
|
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
|
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
|
|
|
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
|
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
|
|
|
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
|
|
|
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
|
|
|
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
|
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
|
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
|
|
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
|
|
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
|
|
|
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
|
|
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
|
|
|
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
|
|
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
|
|
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
|
|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
|
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
|
|
|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
|
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
|
|
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
|
|
|
NM_153717.3(EVC):c.2449+5G>A
|
|
|
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
|
|
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
|
|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
|
|
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)
|
rs1446692986
|
|
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
|
|
|
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
|
|
|
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
|
|
|
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
|
|
|
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
|
|
|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
|
|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
|
|
NM_153717.3(EVC):c.2689-8C>G
|
|
|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
|
|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2783-3C>A
|
|
|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
|
|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
|
|
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
|
|
|
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)
|
rs2152394584
|
|
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala)
|
rs2152394644
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
|
|
|
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
|
|
|
NM_153717.3(EVC):c.2894+4T>A
|
rs746636411
|
|
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
|
|
|
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
|
|
|
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)
|
rs1716842535
|
|
NM_153717.3(EVC):c.300+3A>G
|
|
|
NM_153717.3(EVC):c.34G>C (p.Ala12Pro)
|
rs1369066723
|
|
NM_153717.3(EVC):c.385-3C>T
|
rs2151934859
|
|
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
|
|
|
NM_153717.3(EVC):c.437C>G (p.Ala146Gly)
|
rs2151935147
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
|
|
|
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
|
|
|
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
|
|
|
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
|
|
|
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
|
|
|
NM_153717.3(EVC):c.581G>C (p.Arg194Pro)
|
rs777256784
|
|
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
|
|
|
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
|
|
|
NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
|
rs1359522467
|
|
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
|
|
|
NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
|
rs2151767266
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
NM_153717.3(EVC):c.698A>C (p.His233Pro)
|
|
|
NM_153717.3(EVC):c.698A>G (p.His233Arg)
|
rs769431829
|
|
NM_153717.3(EVC):c.700A>G (p.Met234Val)
|
|
|
NM_153717.3(EVC):c.719T>G (p.Phe240Cys)
|
rs2152000493
|
|
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
|
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.734T>A (p.Leu245His)
|
|
|
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
|
|
|
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
|
|
|
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
|
rs1428021249
|
|
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
|
|
|
NM_153717.3(EVC):c.857C>G (p.Ser286Trp)
|
rs139263450
|
|
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
|
|
|
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
|
|
|
NM_153717.3(EVC):c.939T>A (p.Asn313Lys)
|
rs764394644
|
|
NM_153717.3(EVC):c.940A>G (p.Met314Val)
|
rs557010916
|
|