NM_003052.5(SLC34A1):c.389-5C>T
|
rs189794265
|
0.01364
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)
|
rs201223057
|
0.00210
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00182
|
NM_003052.5(SLC34A1):c.260-4C>A
|
rs200580283
|
0.00109
|
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met)
|
rs143201338
|
0.00066
|
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His)
|
rs144306414
|
0.00066
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala)
|
rs201109695
|
0.00051
|
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)
|
rs137909349
|
0.00050
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
NM_003052.5(SLC34A1):c.1416+5G>A
|
rs202081023
|
0.00036
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
NM_003052.5(SLC34A1):c.1700G>A (p.Gly567Glu)
|
rs139804628
|
0.00025
|
NM_001482.3(GATM):c.701A>G (p.Asp234Gly)
|
rs146057680
|
0.00022
|
NM_003052.5(SLC34A1):c.1826C>T (p.Pro609Leu)
|
rs147711480
|
0.00022
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)
|
rs376131751
|
0.00018
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp)
|
rs148669433
|
0.00016
|
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro)
|
rs201728701
|
0.00013
|
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)
|
rs374121143
|
0.00013
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=)
|
rs561557630
|
0.00012
|
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)
|
rs148575220
|
0.00012
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_001482.3(GATM):c.-1G>A
|
rs778453861
|
0.00010
|
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)
|
rs768939354
|
0.00010
|
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)
|
rs552176812
|
0.00009
|
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val)
|
rs141770901
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp)
|
rs146096892
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)
|
rs200188041
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_001482.3(GATM):c.61G>A (p.Gly21Arg)
|
rs903485357
|
0.00005
|
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)
|
rs137867155
|
0.00005
|
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter)
|
rs377186926
|
0.00005
|
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr)
|
rs199847351
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_001482.3(GATM):c.1030A>G (p.Ile344Val)
|
rs747608698
|
0.00004
|
NM_001482.3(GATM):c.1106G>A (p.Arg369His)
|
rs747557239
|
0.00004
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
NM_001482.3(GATM):c.338A>G (p.His113Arg)
|
rs910754475
|
0.00004
|
NM_001482.3(GATM):c.979-19G>T
|
rs575171738
|
0.00004
|
NM_001482.3(GATM):c.990C>G (p.Phe330Leu)
|
rs770808654
|
0.00004
|
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer)
|
rs771955031
|
0.00004
|
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)
|
rs377213972
|
0.00004
|
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)
|
rs387907503
|
0.00004
|
NM_003052.5(SLC34A1):c.644+1G>A
|
rs201304511
|
0.00004
|
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)
|
rs146812061
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_001482.3(GATM):c.279C>G (p.Ile93Met)
|
rs192378417
|
0.00003
|
NM_003052.5(SLC34A1):c.1523C>T (p.Thr508Met)
|
rs148272921
|
0.00003
|
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)
|
rs201331677
|
0.00003
|
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)
|
rs767269039
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.657C>T (p.Asp219=)
|
rs376586083
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
NM_001482.3(GATM):c.813+6C>T
|
rs771050735
|
0.00002
|
NM_001482.3(GATM):c.845G>A (p.Arg282His)
|
rs371447931
|
0.00002
|
NM_001482.3(GATM):c.859C>T (p.Pro287Ser)
|
rs773358289
|
0.00002
|
NM_003052.5(SLC34A1):c.1352C>T (p.Thr451Ile)
|
rs369749329
|
0.00002
|
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu)
|
rs548844573
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly)
|
rs201777208
|
0.00002
|
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)
|
rs1331986925
|
0.00001
|
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser)
|
rs1183535332
|
0.00001
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)
|
rs397514708
|
0.00001
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)
|
rs377578020
|
0.00001
|
NM_001482.3(GATM):c.603A>C (p.Lys201Asn)
|
rs748600834
|
0.00001
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)
|
rs1393968087
|
0.00001
|
NM_001482.3(GATM):c.710A>G (p.Lys237Arg)
|
rs764877849
|
0.00001
|
NM_001482.3(GATM):c.76C>G (p.Arg26Gly)
|
rs1032267288
|
0.00001
|
NM_001482.3(GATM):c.875A>G (p.His292Arg)
|
rs747005297
|
0.00001
|
NM_001482.3(GATM):c.88G>A (p.Gly30Arg)
|
rs1245821498
|
0.00001
|
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)
|
rs1334969328
|
0.00001
|
NM_001482.3(GATM):c.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His)
|
rs750711955
|
0.00001
|
NM_003052.5(SLC34A1):c.1361C>T (p.Thr454Met)
|
rs1489305215
|
0.00001
|
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)
|
rs184668287
|
0.00001
|
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys)
|
rs756685605
|
0.00001
|
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile)
|
rs758639329
|
0.00001
|
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)
|
rs142772770
|
0.00001
|
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=)
|
rs753903046
|
0.00001
|
NM_003052.5(SLC34A1):c.652G>A (p.Ala218Thr)
|
rs569024586
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met)
|
rs778803636
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)
|
rs376906221
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)
|
rs1413742263
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp)
|
rs768263630
|
0.00001
|
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
|
|
|
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg)
|
rs749007953
|
|
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)
|
rs1889422994
|
|
NM_001482.3(GATM):c.1009A>G (p.Ile337Val)
|
rs558560751
|
|
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
|
rs1889422661
|
|
NM_001482.3(GATM):c.1042+4T>C
|
rs1191624574
|
|
NM_001482.3(GATM):c.1099G>A (p.Glu367Lys)
|
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
NM_001482.3(GATM):c.1208G>A (p.Gly403Glu)
|
|
|
NM_001482.3(GATM):c.1220G>A (p.Cys407Tyr)
|
|
|
NM_001482.3(GATM):c.145T>C (p.Ser49Pro)
|
rs796052537
|
|
NM_001482.3(GATM):c.161A>G (p.Asp54Gly)
|
|
|
NM_001482.3(GATM):c.166G>A (p.Ala56Thr)
|
|
|
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
|
|
|
NM_001482.3(GATM):c.172G>C (p.Glu58Gln)
|
|
|
NM_001482.3(GATM):c.217_250dup (p.Glu84fs)
|
|
|
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
|
|
|
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
|
|
|
NM_001482.3(GATM):c.289-13C>T
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
NM_001482.3(GATM):c.361A>C (p.Lys121Gln)
|
|
|
NM_001482.3(GATM):c.371T>C (p.Val124Ala)
|
rs1889503302
|
|
NM_001482.3(GATM):c.378A>T (p.Glu126Asp)
|
rs1889503051
|
|
NM_001482.3(GATM):c.437C>G (p.Pro146Arg)
|
|
|
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
|
|
|
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
|
|
|
NM_001482.3(GATM):c.484+1G>T
|
rs80338738
|
|
NM_001482.3(GATM):c.493A>G (p.Ser165Gly)
|
|
|
NM_001482.3(GATM):c.519A>G (p.Ile173Met)
|
rs796052534
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
NM_001482.3(GATM):c.660T>G (p.Asp220Glu)
|
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
NM_001482.3(GATM):c.692C>A (p.Ser231Tyr)
|
|
|
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
|
|
|
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)
|
rs1424827158
|
|
NM_001482.3(GATM):c.754T>C (p.Cys252Arg)
|
|
|
NM_001482.3(GATM):c.782C>G (p.Ala261Gly)
|
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
NM_001482.3(GATM):c.862G>T (p.Asp288Tyr)
|
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
NM_001482.3(GATM):c.932T>C (p.Ile311Thr)
|
rs1460902723
|
|
NM_001482.3(GATM):c.964C>A (p.Arg322=)
|
|
|
NM_001482.3(GATM):c.965G>A (p.Arg322Gln)
|
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
NM_001966.4(EHHADH):c.1015A>T (p.Met339Leu)
|
|
|
NM_003052.5(SLC34A1):c.1006+2dup
|
|
|
NM_003052.5(SLC34A1):c.1007-7C>G
|
|
|
NM_003052.5(SLC34A1):c.1008C>A (p.Cys336Ter)
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NM_003052.5(SLC34A1):c.1022T>C (p.Val341Ala)
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NM_003052.5(SLC34A1):c.1028C>T (p.Thr343Ile)
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NM_003052.5(SLC34A1):c.1037C>T (p.Pro346Leu)
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NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)
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rs73336286
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NM_003052.5(SLC34A1):c.1079T>G (p.Val360Gly)
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NM_003052.5(SLC34A1):c.1116G>T (p.Met372Ile)
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NM_003052.5(SLC34A1):c.1150G>T (p.Val384Phe)
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NM_003052.5(SLC34A1):c.115C>T (p.His39Tyr)
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NM_003052.5(SLC34A1):c.117C>G (p.His39Gln)
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NM_003052.5(SLC34A1):c.118A>T (p.Arg40Trp)
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NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)
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rs1581648732
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NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)
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rs145542852
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NM_003052.5(SLC34A1):c.1227C>T (p.Gly409=)
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rs145542852
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NM_003052.5(SLC34A1):c.1228G>A (p.Ala410Thr)
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NM_003052.5(SLC34A1):c.1238C>A (p.Thr413Asn)
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NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
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NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met)
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rs765774780
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NM_003052.5(SLC34A1):c.1243G>T (p.Val415Leu)
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NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)
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NM_003052.5(SLC34A1):c.1290C>T (p.Ile430=)
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NM_003052.5(SLC34A1):c.1310T>C (p.Ile437Thr)
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NM_003052.5(SLC34A1):c.1316G>A (p.Arg439Lys)
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NM_003052.5(SLC34A1):c.131C>A (p.Thr44Asn)
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NM_003052.5(SLC34A1):c.1325C>T (p.Pro442Leu)
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NM_003052.5(SLC34A1):c.1337G>A (p.Gly446Asp)
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NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)
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NM_003052.5(SLC34A1):c.1495C>T (p.Arg499Cys)
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NM_003052.5(SLC34A1):c.1499T>C (p.Met500Thr)
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NM_003052.5(SLC34A1):c.1520G>A (p.Arg507His)
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NM_003052.5(SLC34A1):c.1534C>T (p.Arg512Cys)
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NM_003052.5(SLC34A1):c.1576C>A (p.Leu526Met)
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NM_003052.5(SLC34A1):c.1614G>A (p.Trp538Ter)
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NM_003052.5(SLC34A1):c.1654C>A (p.Leu552Met)
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NM_003052.5(SLC34A1):c.175G>A (p.Glu59Lys)
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NM_003052.5(SLC34A1):c.1783C>T (p.Arg595Cys)
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NM_003052.5(SLC34A1):c.1784G>A (p.Arg595His)
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NM_003052.5(SLC34A1):c.1788_1797del (p.Thr597fs)
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NM_003052.5(SLC34A1):c.1831C>T (p.Pro611Ser)
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NM_003052.5(SLC34A1):c.1836del (p.Arg613fs)
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NM_003052.5(SLC34A1):c.1849G>A (p.Glu617Lys)
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NM_003052.5(SLC34A1):c.1885G>T (p.Ala629Ser)
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NM_003052.5(SLC34A1):c.189_190del (p.Cys64fs)
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NM_003052.5(SLC34A1):c.209G>A (p.Arg70His)
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NM_003052.5(SLC34A1):c.23T>G (p.Leu8Arg)
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NM_003052.5(SLC34A1):c.241G>C (p.Glu81Gln)
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NM_003052.5(SLC34A1):c.247G>T (p.Glu83Ter)
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NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)
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NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
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rs876661296
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NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)
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NM_003052.5(SLC34A1):c.280C>A (p.Leu94Met)
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NM_003052.5(SLC34A1):c.284G>T (p.Arg95Leu)
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NM_003052.5(SLC34A1):c.293G>A (p.Gly98Asp)
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NM_003052.5(SLC34A1):c.409_411del (p.Phe137del)
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rs758233945
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NM_003052.5(SLC34A1):c.40T>G (p.Ser14Ala)
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NM_003052.5(SLC34A1):c.415G>T (p.Asp139Tyr)
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NM_003052.5(SLC34A1):c.446G>A (p.Gly149Glu)
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NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
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rs769409705
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NM_003052.5(SLC34A1):c.472G>A (p.Val158Met)
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NM_003052.5(SLC34A1):c.511G>A (p.Val171Ile)
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NM_003052.5(SLC34A1):c.521T>G (p.Val174Gly)
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NM_003052.5(SLC34A1):c.533-11T>A
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NM_003052.5(SLC34A1):c.537G>A (p.Leu179=)
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NM_003052.5(SLC34A1):c.557_558del (p.Pro186fs)
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NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)
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rs370983881
|
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NM_003052.5(SLC34A1):c.583A>G (p.Thr195Ala)
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NM_003052.5(SLC34A1):c.58G>T (p.Gly20Trp)
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NM_003052.5(SLC34A1):c.592A>G (p.Thr198Ala)
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NM_003052.5(SLC34A1):c.601A>G (p.Ile201Val)
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NM_003052.5(SLC34A1):c.614T>C (p.Met205Thr)
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NM_003052.5(SLC34A1):c.640C>T (p.Arg214Trp)
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NM_003052.5(SLC34A1):c.644+14G>T
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NM_003052.5(SLC34A1):c.644+15G>A
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NM_003052.5(SLC34A1):c.706C>G (p.Pro236Ala)
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rs1356220927
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NM_003052.5(SLC34A1):c.714G>C (p.Glu238Asp)
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NM_003052.5(SLC34A1):c.761C>T (p.Ser254Phe)
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NM_003052.5(SLC34A1):c.775G>A (p.Gly259Ser)
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NM_003052.5(SLC34A1):c.778_809delinsAGC (p.Gly260fs)
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NM_003052.5(SLC34A1):c.795C>G (p.Asp265Glu)
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NM_003052.5(SLC34A1):c.796C>A (p.Leu266Met)
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NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)
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NM_003052.5(SLC34A1):c.876_877del (p.Gly292_Asp293insTer)
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NM_003052.5(SLC34A1):c.897_898del (p.His299fs)
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NM_003052.5(SLC34A1):c.898A>G (p.Ser300Gly)
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NM_003052.5(SLC34A1):c.902T>C (p.Leu301Pro)
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NM_003052.5(SLC34A1):c.913T>C (p.Trp305Arg)
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NM_003052.5(SLC34A1):c.943A>G (p.Thr315Ala)
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NM_003052.5(SLC34A1):c.94G>C (p.Val32Leu)
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NM_003052.5(SLC34A1):c.963G>C (p.Glu321Asp)
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NM_003052.5(SLC34A1):c.982C>G (p.Leu328Val)
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NM_003052.5(SLC34A1):c.998T>C (p.Met333Thr)
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NM_152416.4(NDUFAF6):c.420+15dup
|
rs34960210
|
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NM_152416.4(NDUFAF6):c.485del (p.Asn162fs)
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rs762093523
|
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NM_175914.5(HNF4A):c.*145T>A
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rs200905283
|
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NM_175914.5(HNF4A):c.1063+120G>A
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NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
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NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile)
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NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
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rs193922470
|
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NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
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NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
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NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
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NM_175914.5(HNF4A):c.1217-1G>A
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NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)
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NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
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NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
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NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
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NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
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NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
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rs587777732
|
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NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
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NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
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NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
|
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NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
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NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
|
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NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
|
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NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
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rs1085307913
|
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NM_175914.5(HNF4A):c.427-1G>A
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rs1568731279
|
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NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
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NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
|
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NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
|
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NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
|
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NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
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NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
|
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NM_175914.5(HNF4A):c.583-19T>A
|
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NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
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NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
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NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
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NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
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NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
|
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NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
|
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NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
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NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
|
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NM_175914.5(HNF4A):c.911G>A (p.Arg304His)
|
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)
|
|
|
NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)
|
|
|