NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_017739.4(POMGNT1):c.*221G>A
|
rs181362801
|
0.00374
|
NM_017739.4(POMGNT1):c.*451C>T
|
rs148903585
|
0.00364
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)
|
rs544816408
|
0.00015
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile)
|
rs377760450
|
0.00011
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00011
|
NM_017739.4(POMGNT1):c.752-15G>A
|
rs368317059
|
0.00011
|
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)
|
rs148498470
|
0.00010
|
NM_017739.4(POMGNT1):c.1285-6C>T
|
rs377292905
|
0.00009
|
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp)
|
rs145736350
|
0.00009
|
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys)
|
rs373777515
|
0.00009
|
NM_017739.4(POMGNT1):c.1539C>T (p.His513=)
|
rs569297597
|
0.00006
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe)
|
rs772102300
|
0.00006
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
NM_017739.4(POMGNT1):c.1540-6C>T
|
rs770449394
|
0.00005
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=)
|
rs775495503
|
0.00004
|
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr)
|
rs1276215978
|
0.00004
|
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser)
|
rs372610527
|
0.00004
|
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met)
|
rs769180238
|
0.00004
|
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)
|
rs374401585
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=)
|
rs562534688
|
0.00004
|
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn)
|
rs143736961
|
0.00004
|
NM_017739.4(POMGNT1):c.*531C>T
|
rs769094628
|
0.00003
|
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser)
|
rs755454684
|
0.00003
|
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met)
|
rs756026992
|
0.00003
|
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)
|
rs765906814
|
0.00003
|
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)
|
rs386834018
|
0.00003
|
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu)
|
rs797045896
|
0.00003
|
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln)
|
rs778115320
|
0.00003
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser)
|
rs949714416
|
0.00003
|
NM_017739.4(POMGNT1):c.652+8C>T
|
rs778376741
|
0.00003
|
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)
|
rs569061665
|
0.00003
|
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His)
|
rs146078296
|
0.00003
|
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu)
|
rs369970994
|
0.00003
|
NM_017739.4(POMGNT1):c.*500G>A
|
rs764840485
|
0.00002
|
NM_017739.4(POMGNT1):c.1027-5C>G
|
rs779435288
|
0.00002
|
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser)
|
rs140846775
|
0.00002
|
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)
|
rs753030030
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.1649+1G>A
|
rs752700398
|
0.00002
|
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met)
|
rs755885722
|
0.00002
|
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn)
|
rs917194053
|
0.00002
|
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp)
|
rs1188660252
|
0.00002
|
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln)
|
rs770634205
|
0.00002
|
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)
|
rs751316371
|
0.00002
|
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His)
|
rs756234628
|
0.00002
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
NM_017739.4(POMGNT1):c.879+3G>A
|
rs1411537744
|
0.00002
|
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)
|
rs776248221
|
0.00002
|
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met)
|
rs765980130
|
0.00002
|
NM_017739.4(POMGNT1):c.*30_*33del
|
rs1553162554
|
0.00001
|
NM_017739.4(POMGNT1):c.*404_*405dup
|
rs940315351
|
0.00001
|
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala)
|
rs1267806554
|
0.00001
|
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)
|
rs138745073
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met)
|
rs1332597566
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+9T>C
|
rs1553163359
|
0.00001
|
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)
|
rs375845761
|
0.00001
|
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=)
|
rs760312462
|
0.00001
|
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val)
|
rs778179887
|
0.00001
|
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val)
|
rs1460430901
|
0.00001
|
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu)
|
rs749863346
|
0.00001
|
NM_017739.4(POMGNT1):c.1284+5G>T
|
rs1257224073
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly)
|
rs781221088
|
0.00001
|
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp)
|
rs1011150724
|
0.00001
|
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln)
|
rs779428703
|
0.00001
|
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)
|
rs769213562
|
0.00001
|
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)
|
rs573518562
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu)
|
rs764394085
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp)
|
rs149482430
|
0.00001
|
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn)
|
rs761426941
|
0.00001
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser)
|
rs749960797
|
0.00001
|
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln)
|
rs775534917
|
0.00001
|
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)
|
rs377170894
|
0.00001
|
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu)
|
rs200143169
|
0.00001
|
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser)
|
rs771922809
|
0.00001
|
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu)
|
rs1467007123
|
0.00001
|
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)
|
rs747815387
|
0.00001
|
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter)
|
rs766290773
|
0.00001
|
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val)
|
rs373016708
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala)
|
rs886042796
|
0.00001
|
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys)
|
rs780641373
|
0.00001
|
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu)
|
rs770366321
|
0.00001
|
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met)
|
rs886044363
|
0.00001
|
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val)
|
rs1355389149
|
0.00001
|
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val)
|
rs200643988
|
0.00001
|
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val)
|
rs757919524
|
0.00001
|
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala)
|
rs868433749
|
0.00001
|
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met)
|
rs1239939744
|
0.00001
|
NM_017739.4(POMGNT1):c.652+5C>T
|
rs771669680
|
0.00001
|
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe)
|
rs147938876
|
0.00001
|
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val)
|
rs771429702
|
0.00001
|
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu)
|
rs755032396
|
0.00001
|
NM_017739.4(POMGNT1):c.751+4G>C
|
rs768307488
|
0.00001
|
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val)
|
rs886043972
|
0.00001
|
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys)
|
rs369306680
|
0.00001
|
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His)
|
rs748559972
|
0.00001
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn)
|
rs757156888
|
0.00001
|
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys)
|
rs200789546
|
0.00001
|
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)
|
rs1476814352
|
0.00001
|
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp)
|
rs752393375
|
0.00001
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)
|
rs753453050
|
0.00001
|
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met)
|
rs71653997
|
0.00001
|
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu)
|
rs752124301
|
0.00001
|
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His)
|
rs368653589
|
0.00001
|
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu)
|
rs368653589
|
0.00001
|
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg)
|
rs1306444778
|
0.00001
|
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser)
|
rs748027760
|
0.00001
|
NC_000001.10:g.(?_46654371)_(46663513_?)dup
|
|
|
NM_017739.4(POMGNT1):c.*207G>A
|
rs1657534329
|
|
NM_017739.4(POMGNT1):c.*2A>T
|
rs1188540095
|
|
NM_017739.4(POMGNT1):c.*335_*361del
|
rs754791169
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
NM_017739.4(POMGNT1):c.*499G>A
|
rs866924336
|
|
NM_017739.4(POMGNT1):c.*513del
|
rs1553162438
|
|
NM_017739.4(POMGNT1):c.*5TCC[1]
|
rs780919404
|
|
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile)
|
rs1027415099
|
|
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)
|
rs886046385
|
|
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
|
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)
|
rs2148194204
|
|
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_017739.4(POMGNT1):c.1026+3G>A
|
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
|
|
|
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His)
|
rs754255569
|
|
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met)
|
rs2148192741
|
|
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp)
|
rs1195736220
|
|
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp)
|
rs2148192555
|
|
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr)
|
rs1553163380
|
|
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
|
|
|
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg)
|
rs1557673272
|
|
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
|
|
|
NM_017739.4(POMGNT1):c.1110+3A>G
|
|
|
NM_017739.4(POMGNT1):c.1110+5T>A
|
|
|
NM_017739.4(POMGNT1):c.1111-10C>A
|
rs1277266739
|
|
NM_017739.4(POMGNT1):c.1111-7C>T
|
rs1414733588
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
|
|
|
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
|
|
|
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr)
|
rs140846775
|
|
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu)
|
rs2148191200
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1152+3G>A
|
rs1657923881
|
|
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln)
|
rs2148189653
|
|
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val)
|
rs1657900516
|
|
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg)
|
rs1351958771
|
|
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser)
|
rs374639571
|
|
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met)
|
rs779045970
|
|
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn)
|
rs1657895778
|
|
NM_017739.4(POMGNT1):c.1211+6G>A
|
|
|
NM_017739.4(POMGNT1):c.1212-3C>G
|
|
|
NM_017739.4(POMGNT1):c.1212-3_1212-2del
|
rs1064797111
|
|
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr)
|
rs1259024068
|
|
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu)
|
rs1553163234
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1284+3A>C
|
|
|
NM_017739.4(POMGNT1):c.1284+4G>A
|
rs2148187138
|
|
NM_017739.4(POMGNT1):c.1284+6C>T
|
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
|
|
|
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
|
|
|
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr)
|
rs2148186054
|
|
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp)
|
rs2148185834
|
|
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile)
|
rs1571655190
|
|
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)
|
rs183932527
|
|
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
|
|
|
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
|
|
|
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
|
|
|
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
|
|
|
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn)
|
rs1657843296
|
|
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
|
|
|
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile)
|
rs2148185390
|
|
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu)
|
rs769879467
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1413+6T>G
|
rs1160554172
|
|
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)
|
rs1253221637
|
|
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
|
|
|
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
|
|
|
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)
|
rs534543454
|
|
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
|
|
|
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu)
|
rs753030030
|
|
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
|
|
|
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
|
|
|
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu)
|
rs753120009
|
|
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe)
|
rs17102066
|
|
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys)
|
rs767617711
|
|
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr)
|
rs1571653937
|
|
NM_017739.4(POMGNT1):c.1539+16G>T
|
rs2148183113
|
|
NM_017739.4(POMGNT1):c.1540-16C>G
|
|
|
NM_017739.4(POMGNT1):c.1540-3C>T
|
|
|
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
|
|
|
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg)
|
rs769180238
|
|
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
|
|
|
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu)
|
rs1657700266
|
|
NM_017739.4(POMGNT1):c.1605-15C>T
|
|
|
NM_017739.4(POMGNT1):c.1605-3C>T
|
rs1457187510
|
|
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys)
|
rs1657679725
|
|
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala)
|
rs1657678070
|
|
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr)
|
rs970460430
|
|
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly)
|
rs2148172085
|
|
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
|
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr)
|
rs753688195
|
|
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro)
|
rs753688195
|
|
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)
|
rs1657621738
|
|
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
|
|
|
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
|
|
|
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly)
|
rs1204034604
|
|
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
|
|
|
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr)
|
rs1343659692
|
|
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
|
|
|
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
|
|
|
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del)
|
rs777715386
|
|
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
|
|
|
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
|
|
|
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
|
|
|
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys)
|
rs1657578489
|
|
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=)
|
rs1657576580
|
|
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del)
|
rs1553162667
|
|
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys)
|
rs2148163569
|
|
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly)
|
rs763071717
|
|
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp)
|
rs763071717
|
|
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del)
|
rs1435566919
|
|
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)
|
rs6659553
|
|
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile)
|
rs199723646
|
|
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)
|
rs1657570765
|
|
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
|
|
|
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
|
rs747723242
|
|
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)
|
rs200471699
|
|
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met)
|
rs1657559085
|
|
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu)
|
rs1285505849
|
|
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu)
|
rs2148162135
|
|
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile)
|
rs748799436
|
|
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)
|
rs757749808
|
|
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)
|
rs757749808
|
|
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser)
|
rs1442072528
|
|
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala)
|
rs2148161781
|
|
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
|
|
|
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln)
|
rs752942416
|
|
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)
|
rs144068158
|
|
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp)
|
rs2148161681
|
|
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)
|
rs1553162587
|
|
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
|
|
|
NM_017739.4(POMGNT1):c.355-3T>G
|
rs1553163972
|
|
NM_017739.4(POMGNT1):c.355-8C>G
|
rs2148213723
|
|
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
|
|
|
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
|
|
|
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
|
|
|
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp)
|
rs1197810838
|
|
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val)
|
rs771101711
|
|
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro)
|
rs764809782
|
|
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met)
|
rs766157232
|
|
NM_017739.4(POMGNT1):c.420+3G>C
|
|
|
NM_017739.4(POMGNT1):c.420+4A>G
|
|
|
NM_017739.4(POMGNT1):c.421-10C>A
|
rs2148212526
|
|
NM_017739.4(POMGNT1):c.421-3C>T
|
rs1658202678
|
|
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp)
|
rs2148212411
|
|
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val)
|
rs2148212293
|
|
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
|
|
|
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys)
|
rs886044363
|
|
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)
|
rs886043030
|
|
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp)
|
rs2148211902
|
|
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val)
|
rs2148211802
|
|
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
|
|
|
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu)
|
rs1271259700
|
|
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser)
|
rs1164265990
|
|
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)
|
rs1046275062
|
|
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)
|
rs1553163909
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser)
|
rs2148205851
|
|
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro)
|
rs2148205834
|
|
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg)
|
rs2148205697
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro)
|
rs949714416
|
|
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
|
|
|
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val)
|
rs1658103117
|
|
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr)
|
rs982953590
|
|
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
|
|
|
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile)
|
rs1571664089
|
|
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg)
|
rs1658098171
|
|
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr)
|
rs1201476826
|
|
NM_017739.4(POMGNT1):c.652+3G>A
|
|
|
NM_017739.4(POMGNT1):c.653-2del
|
|
|
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu)
|
rs1244157163
|
|
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile)
|
rs1349291334
|
|
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
|
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp)
|
rs1658072717
|
|
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
|
|
|
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
|
|
|
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly)
|
rs921366442
|
|
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)
|
rs1658069732
|
|
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
|
|
|
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His)
|
rs201525710
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
|
|
|
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
|
|
|
NM_017739.4(POMGNT1):c.751+3G>A
|
|
|
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys)
|
rs2148201993
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val)
|
rs2148200734
|
|
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
|
|
|
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
|
|
|
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
|
|
|
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)
|
rs386834010
|
|
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly)
|
rs1216011919
|
|
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp)
|
rs1557674820
|
|
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe)
|
rs1658035130
|
|
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
|
|
|
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
|
|
|
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His)
|
rs930277247
|
|
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
|
|
|
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val)
|
rs2148196499
|
|
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=)
|
rs71653997
|
|
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=)
|
rs1375679237
|
|
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
|
|
|
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
|
|
|
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys)
|
rs1657992159
|
|
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)
|
|
|