NM_006494.4(ERF):c.1230T>C (p.Ala410=)
|
rs35493131
|
0.08759
|
NM_006494.4(ERF):c.981C>T (p.Ser327=)
|
rs61735151
|
0.05337
|
NM_006494.4(ERF):c.1104T>C (p.Ser368=)
|
rs76105803
|
0.03247
|
NM_006494.4(ERF):c.1244C>T (p.Ala415Val)
|
rs139842507
|
0.01177
|
NM_006494.4(ERF):c.24G>A (p.Gly8=)
|
rs200969503
|
0.00135
|
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser)
|
rs111793182
|
0.00133
|
NM_006494.4(ERF):c.1057A>G (p.Met353Val)
|
rs149405304
|
0.00085
|
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu)
|
rs144812092
|
0.00058
|
NM_006494.4(ERF):c.840G>A (p.Ser280=)
|
rs145699948
|
0.00053
|
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu)
|
rs533363033
|
0.00043
|
NM_006494.4(ERF):c.659C>A (p.Pro220His)
|
rs200767779
|
0.00043
|
NM_006494.4(ERF):c.405G>A (p.Val135=)
|
rs144678577
|
0.00041
|
NM_006494.4(ERF):c.257+8C>T
|
rs137956794
|
0.00033
|
NM_006494.4(ERF):c.1614G>A (p.Thr538=)
|
rs183334082
|
0.00030
|
NM_006494.4(ERF):c.673C>T (p.Leu225=)
|
rs35578793
|
0.00029
|
NM_006494.4(ERF):c.264C>T (p.Tyr88=)
|
rs140522983
|
0.00022
|
NM_006494.4(ERF):c.1263G>C (p.Pro421=)
|
rs750423382
|
0.00009
|
NM_006494.4(ERF):c.1152C>T (p.Leu384=)
|
rs772786203
|
0.00005
|
NM_006494.4(ERF):c.36G>A (p.Pro12=)
|
rs371076249
|
0.00005
|
NM_006494.4(ERF):c.885C>T (p.Ser295=)
|
rs758048419
|
0.00005
|
NM_006494.4(ERF):c.132C>T (p.Gly44=)
|
rs192294053
|
0.00004
|
NM_006494.4(ERF):c.1461C>T (p.Arg487=)
|
rs371796869
|
0.00004
|
NM_006494.4(ERF):c.450C>T (p.Ser150=)
|
rs747218945
|
0.00004
|
NM_006494.4(ERF):c.514C>T (p.Leu172Phe)
|
rs763588724
|
0.00004
|
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg)
|
rs764764288
|
0.00003
|
NM_006494.4(ERF):c.1478G>A (p.Arg493His)
|
rs762382429
|
0.00003
|
NM_006494.4(ERF):c.819C>T (p.Thr273=)
|
rs200872722
|
0.00003
|
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu)
|
rs376130330
|
0.00002
|
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu)
|
rs753010203
|
0.00002
|
NM_006494.4(ERF):c.208C>T (p.Arg70Cys)
|
rs756869919
|
0.00002
|
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys)
|
rs753014847
|
0.00002
|
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)
|
rs749808726
|
0.00001
|
NM_006494.4(ERF):c.247C>A (p.Arg83=)
|
rs766762597
|
0.00001
|
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)
|
rs766762597
|
0.00001
|
NM_006494.4(ERF):c.373+8C>T
|
rs368794183
|
0.00001
|
NM_006494.4(ERF):c.652C>T (p.Arg218Ter)
|
rs1425504754
|
0.00001
|
NM_006494.4(ERF):c.824T>C (p.Leu275Pro)
|
rs756557668
|
0.00001
|
NC_000019.9:g.(?_42759120)_42759196del
|
|
|
NM_006494.4(ERF):c.-44_22+11del
|
rs1568475667
|
|
NM_006494.4(ERF):c.1021del (p.Gln341fs)
|
|
|
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly)
|
rs1395870549
|
|
NM_006494.4(ERF):c.1049del (p.Leu350fs)
|
rs2036390617
|
|
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)
|
rs1064796715
|
|
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del)
|
rs199960550
|
|
NM_006494.4(ERF):c.110T>C (p.Leu37Pro)
|
rs2036426238
|
|
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
|
|
|
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
|
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006494.4(ERF):c.1243_1245del (p.Ala415del)
|
rs759202471
|
|
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter)
|
rs587777010
|
|
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)
|
rs2146948133
|
|
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly)
|
rs766642440
|
|
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
|
|
|
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
|
|
|
NM_006494.4(ERF):c.144G>A (p.Trp48Ter)
|
rs2036425705
|
|
NM_006494.4(ERF):c.1500del (p.Ala501fs)
|
|
|
NM_006494.4(ERF):c.1602C>T (p.Leu534=)
|
rs2146947253
|
|
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
|
rs587777009
|
|
NM_006494.4(ERF):c.199T>G (p.Trp67Gly)
|
rs141468833
|
|
NM_006494.4(ERF):c.1A>G (p.Met1Val)
|
rs864321681
|
|
NM_006494.4(ERF):c.22+2T>G
|
rs2146960176
|
|
NM_006494.4(ERF):c.223C>T (p.Gln75Ter)
|
rs1568472771
|
|
NM_006494.4(ERF):c.226A>G (p.Met76Val)
|
|
|
NM_006494.4(ERF):c.23-2A>G
|
rs864321680
|
|
NM_006494.4(ERF):c.23-9C>T
|
|
|
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
|
|
|
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)
|
rs587777008
|
|
NM_006494.4(ERF):c.257G>A (p.Arg86His)
|
rs765295141
|
|
NM_006494.4(ERF):c.272dup (p.Arg92fs)
|
|
|
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
|
|
|
NM_006494.4(ERF):c.286A>T (p.Lys96Ter)
|
rs1599823350
|
|
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
|
|
|
NM_006494.4(ERF):c.374-16G>A
|
|
|
NM_006494.4(ERF):c.383T>G (p.Val128Gly)
|
rs781452659
|
|
NM_006494.4(ERF):c.398C>T (p.Pro133Leu)
|
rs2036411561
|
|
NM_006494.4(ERF):c.408G>A (p.Pro136=)
|
|
|
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
|
|
|
NM_006494.4(ERF):c.41G>A (p.Trp14Ter)
|
rs2036427390
|
|
NM_006494.4(ERF):c.427del (p.Arg143fs)
|
rs2036410199
|
|
NM_006494.4(ERF):c.477C>A (p.Pro159=)
|
|
|
NM_006494.4(ERF):c.517_521dup (p.Ala175fs)
|
rs2146950390
|
|
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)
|
rs767011693
|
|
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)
|
rs587777006
|
|
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
|
|
|
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)
|
rs1555750816
|
|
NM_006494.4(ERF):c.597G>A (p.Pro199=)
|
rs778540681
|
|
NM_006494.4(ERF):c.615C>G (p.Arg205=)
|
rs11557114
|
|
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)
|
rs1555750795
|
|
NM_006494.4(ERF):c.71C>G (p.Ser24Ter)
|
rs2146952114
|
|
NM_006494.4(ERF):c.733del (p.Leu245fs)
|
rs1555750741
|
|
NM_006494.4(ERF):c.748G>C (p.Val250Leu)
|
rs2036399893
|
|
NM_006494.4(ERF):c.762C>T (p.Ala254=)
|
|
|
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
|
|
|
NM_006494.4(ERF):c.813G>A (p.Thr271=)
|
rs367694248
|
|
NM_006494.4(ERF):c.823C>T (p.Leu275=)
|
|
|
NM_006494.4(ERF):c.891_892del (p.Gly299fs)
|
rs587777007
|
|
NM_006494.4(ERF):c.911_913del (p.Ser304del)
|
rs2146949300
|
|
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)
|
rs1216061173
|
|
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)
|
|
|