ClinVar Miner

List of variants in gene POMGNT1, TSPAN1 studied for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 927
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.1867= (p.Met623=) rs6659553 0.05119
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
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.1298C>T (p.Thr433Met) rs146097254 0.00280
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.453G>A (p.Thr151=) rs146121135 0.00061
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.534+15C>T rs141676863 0.00038
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.549C>T (p.Phe183=) rs140724142 0.00033
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_017739.4(POMGNT1):c.1649+19G>A rs200158493 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu) rs374871234 0.00021
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp) rs200363064 0.00015
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=) rs367596859 0.00012
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.421-13_421-10dup rs772136218 0.00011
NM_017739.4(POMGNT1):c.426C>T (p.His142=) rs374384310 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.1895+1G>T rs386834024 0.00009
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=) rs774008151 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) rs187954010 0.00007
NM_017739.4(POMGNT1):c.1605-8C>T rs535331969 0.00007
NM_017739.4(POMGNT1):c.1111-6T>C rs751751349 0.00006
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
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.1896-20T>A rs200416465 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.1758C>T (p.Asp586=) rs376138855 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_017739.4(POMGNT1):c.752-7C>T rs767387934 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.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 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.1604+14G>A rs746108694 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.751+10G>A rs200759272 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017739.4(POMGNT1):c.951-12T>C rs753164362 0.00004
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.1284+8G>A rs761259999 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017739.4(POMGNT1):c.1467G>A (p.Glu489=) rs760759400 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.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017739.4(POMGNT1):c.1786-5A>T rs757014219 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.421-9C>T rs748122023 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.444G>A (p.Val148=) rs142016718 0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=) rs576860809 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.653-4C>T rs771765778 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.1011T>C (p.Ile337=) rs777911698 0.00002
NM_017739.4(POMGNT1):c.1014C>T (p.Asp338=) rs780555791 0.00002
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=) rs886042244 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946 0.00002
NM_017739.4(POMGNT1):c.1414-11A>C rs772014671 0.00002
NM_017739.4(POMGNT1):c.1422T>C (p.Asp474=) rs770989782 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.1530C>T (p.Gly510=) rs1465862661 0.00002
NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=) rs1434020595 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00002
NM_017739.4(POMGNT1):c.421-5G>A rs749131264 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.535-5C>T rs975706637 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.636C>T (p.Phe212=) rs190057175 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.879+7G>A rs768184440 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.900C>T (p.Leu300=) rs778664130 0.00002
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) rs765980130 0.00002
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala) rs1267806554 0.00001
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=) rs749046557 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1027-7C>T rs1230573613 0.00001
NM_017739.4(POMGNT1):c.1074T>C (p.His358=) rs1274829970 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+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1110+20G>C rs370151630 0.00001
NM_017739.4(POMGNT1):c.1110+7C>T rs769481215 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1111-12C>A rs369760788 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.1167T>C (p.Ala389=) rs183698543 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.1211+8G>C rs766253288 0.00001
NM_017739.4(POMGNT1):c.1212-4T>G rs778941358 0.00001
NM_017739.4(POMGNT1):c.1218G>A (p.Leu406=) rs1211823122 0.00001
NM_017739.4(POMGNT1):c.1236A>G (p.Leu412=) rs780965440 0.00001
NM_017739.4(POMGNT1):c.1248T>C (p.Asp416=) rs756939646 0.00001
NM_017739.4(POMGNT1):c.1269T>G (p.Ser423=) rs763604454 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1377G>A (p.Lys459=) rs768983994 0.00001
NM_017739.4(POMGNT1):c.1380G>A (p.Glu460=) rs1167749728 0.00001
NM_017739.4(POMGNT1):c.1407G>A (p.Pro469=) rs375039269 0.00001
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly) rs781221088 0.00001
NM_017739.4(POMGNT1):c.1413+12G>T rs1339833158 0.00001
NM_017739.4(POMGNT1):c.1413+7G>A rs372521038 0.00001
NM_017739.4(POMGNT1):c.1414-16G>T rs773143031 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.1458G>A (p.Arg486=) rs765493853 0.00001
NM_017739.4(POMGNT1):c.1470C>T (p.Cys490=) rs772100590 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 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.1521C>T (p.Asn507=) rs767617711 0.00001
NM_017739.4(POMGNT1):c.1539+9G>A rs775040861 0.00001
NM_017739.4(POMGNT1):c.1560C>T (p.His520=) rs1057521878 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.1572G>A (p.Thr524=) rs201897676 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1605-12C>A rs1255591571 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1605-9C>T rs368345562 0.00001
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp) rs149482430 0.00001
NM_017739.4(POMGNT1):c.1647C>T (p.Leu549=) rs777907605 0.00001
NM_017739.4(POMGNT1):c.1650-10T>C rs753698616 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1707C>T (p.Asp569=) rs1206240703 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.1725C>T (p.Tyr575=) rs1657618143 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.1773C>T (p.Thr591=) rs755936993 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.1786-17C>T rs1209878503 0.00001
NM_017739.4(POMGNT1):c.1786-9C>T rs961913683 0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567 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.1923A>C (p.Pro641=) rs886043958 0.00001
NM_017739.4(POMGNT1):c.1953G>A (p.Glu651=) rs1210887374 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.355-6G>C rs754657039 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.399C>T (p.Val133=) rs776851436 0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=) rs777809507 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.420+11A>C rs564933024 0.00001
NM_017739.4(POMGNT1):c.420+12G>C rs907290682 0.00001
NM_017739.4(POMGNT1):c.421-20A>G rs1010666552 0.00001
NM_017739.4(POMGNT1):c.421-8C>T rs778935754 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.458C>G (p.Ser153Ter) rs1048865247 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.504G>A (p.Ala168=) rs761978964 0.00001
NM_017739.4(POMGNT1):c.534+13G>C rs373313076 0.00001
NM_017739.4(POMGNT1):c.534+16C>T rs780919869 0.00001
NM_017739.4(POMGNT1):c.535-14C>G rs778926136 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.579G>A (p.Leu193=) rs747612249 0.00001
NM_017739.4(POMGNT1):c.588G>A (p.Leu196=) rs750844260 0.00001
NM_017739.4(POMGNT1):c.633C>T (p.Ala211=) rs765314886 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.653-10C>T rs1658075924 0.00001
NM_017739.4(POMGNT1):c.653-12G>C rs1258635883 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.735A>G (p.Pro245=) rs139266745 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.752-10C>T rs1470088795 0.00001
NM_017739.4(POMGNT1):c.752-16C>T rs376149012 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.807C>T (p.Cys269=) rs1285062976 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.825T>C (p.Tyr275=) rs1398706831 0.00001
NM_017739.4(POMGNT1):c.834A>G (p.Val278=) rs1299228802 0.00001
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=) rs764747122 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.879+18A>G rs1658029444 0.00001
NM_017739.4(POMGNT1):c.880-4A>C rs1553163534 0.00001
NM_017739.4(POMGNT1):c.880-5C>T rs746970517 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.924A>G (p.Ala308=) rs202058059 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017739.4(POMGNT1):c.951-9G>C rs765581970 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
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NC_000001.11:g.(?_46190463)_(46190794_?)del
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)
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+11C>T
NM_017739.4(POMGNT1):c.1026+12T>G
NM_017739.4(POMGNT1):c.1026+13_1026+14insC
NM_017739.4(POMGNT1):c.1026+14G>A
NM_017739.4(POMGNT1):c.1026+15G>A
NM_017739.4(POMGNT1):c.1026+16G>A
NM_017739.4(POMGNT1):c.1026+19del rs762531635
NM_017739.4(POMGNT1):c.1026+19dup
NM_017739.4(POMGNT1):c.1026+3G>A
NM_017739.4(POMGNT1):c.1026+9G>A rs2148194105
NM_017739.4(POMGNT1):c.1026+9G>C rs2148194105
NM_017739.4(POMGNT1):c.1027-11A>G rs1339767677
NM_017739.4(POMGNT1):c.1027-18A>C rs1255998791
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1027-4C>G rs1325977866
NM_017739.4(POMGNT1):c.1027-4C>T
NM_017739.4(POMGNT1):c.1027-6C>T
NM_017739.4(POMGNT1):c.1027-9dup
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His) rs754255569
NM_017739.4(POMGNT1):c.1041G>A (p.Val347=) rs1422051418
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met) rs2148192741
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs) rs2148192725
NM_017739.4(POMGNT1):c.1047A>G (p.Ala349=)
NM_017739.4(POMGNT1):c.1050G>A (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp) rs1195736220
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp) rs2148192555
NM_017739.4(POMGNT1):c.1065C>T (p.Gly355=)
NM_017739.4(POMGNT1):c.1080C>A (p.Pro360=)
NM_017739.4(POMGNT1):c.1080C>T (p.Pro360=)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
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.1095T>C (p.Asn365=)
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
NM_017739.4(POMGNT1):c.1110+1G>T
NM_017739.4(POMGNT1):c.1110+3A>G
NM_017739.4(POMGNT1):c.1110+5T>A
NM_017739.4(POMGNT1):c.1110+8A>G
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-11C>T
NM_017739.4(POMGNT1):c.1111-12C>T rs369760788
NM_017739.4(POMGNT1):c.1111-14C>T
NM_017739.4(POMGNT1):c.1111-16C>T
NM_017739.4(POMGNT1):c.1111-1G>A
NM_017739.4(POMGNT1):c.1111-4C>G rs1027899021
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.1111-8_1119del
NM_017739.4(POMGNT1):c.1111-9C>A rs757533535
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1119G>A (p.Lys373=) rs2148191353
NM_017739.4(POMGNT1):c.1122C>A (p.Ala374=)
NM_017739.4(POMGNT1):c.1128C>T (p.Leu376=) rs2148191342
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
NM_017739.4(POMGNT1):c.1137T>C (p.Thr379=) rs2148191281
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr) rs140846775
NM_017739.4(POMGNT1):c.1143C>T (p.Asn381=) rs1657925003
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu) rs2148191200
NM_017739.4(POMGNT1):c.1152+10A>T rs2148191095
NM_017739.4(POMGNT1):c.1152+12G>C
NM_017739.4(POMGNT1):c.1152+13G>T
NM_017739.4(POMGNT1):c.1152+14_1152+27del
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1152+3G>A rs1657923881
NM_017739.4(POMGNT1):c.1153-10C>T
NM_017739.4(POMGNT1):c.1153-13A>G
NM_017739.4(POMGNT1):c.1153-13_1153-8del rs2148189751
NM_017739.4(POMGNT1):c.1153-18G>A
NM_017739.4(POMGNT1):c.1153-19T>C
NM_017739.4(POMGNT1):c.1153-1G>C rs1657900739
NM_017739.4(POMGNT1):c.1153-20A>G
NM_017739.4(POMGNT1):c.1153-20A>T
NM_017739.4(POMGNT1):c.1153-4C>T
NM_017739.4(POMGNT1):c.1153-4_1153-1del
NM_017739.4(POMGNT1):c.1153-5T>G
NM_017739.4(POMGNT1):c.1153-7C>T rs2148189712
NM_017739.4(POMGNT1):c.1153-8C>G rs1557672738
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln) rs2148189653
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter) 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.1176G>A (p.Leu392=)
NM_017739.4(POMGNT1):c.1186C>T (p.Leu396=)
NM_017739.4(POMGNT1):c.1188G>A (p.Leu396=) rs1657896660
NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)
NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=) rs1437757660
NM_017739.4(POMGNT1):c.1211+14C>T
NM_017739.4(POMGNT1):c.1211+17G>C
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-11G>C
NM_017739.4(POMGNT1):c.1212-14C>A
NM_017739.4(POMGNT1):c.1212-15C>T
NM_017739.4(POMGNT1):c.1212-16A>G
NM_017739.4(POMGNT1):c.1212-1G>A rs1553163254
NM_017739.4(POMGNT1):c.1212-3C>G
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1212-5C>T rs2148187757
NM_017739.4(POMGNT1):c.1212-8T>C
NM_017739.4(POMGNT1):c.1215C>T (p.Phe405=) rs1280101536
NM_017739.4(POMGNT1):c.1218G>C (p.Leu406=) rs1211823122
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr) rs1259024068
NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)
NM_017739.4(POMGNT1):c.1230C>T (p.Ile410=) rs756026992
NM_017739.4(POMGNT1):c.1233C>T (p.His411=)
NM_017739.4(POMGNT1):c.1236A>C (p.Leu412=) rs780965440
NM_017739.4(POMGNT1):c.1239G>T (p.Leu413=) rs2148187443
NM_017739.4(POMGNT1):c.1255C>T (p.Leu419=)
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.1269T>C (p.Ser423=) rs763604454
NM_017739.4(POMGNT1):c.1272C>T (p.Ala424=)
NM_017739.4(POMGNT1):c.1281C>T (p.Asp427=) rs2148187177
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) rs1657864516
NM_017739.4(POMGNT1):c.1284+11A>G
NM_017739.4(POMGNT1):c.1284+15C>T
NM_017739.4(POMGNT1):c.1284+18G>C
NM_017739.4(POMGNT1):c.1284+19G>C
NM_017739.4(POMGNT1):c.1284+20G>A
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
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.1285-10C>G rs2148186332
NM_017739.4(POMGNT1):c.1285-13_1285-12del
NM_017739.4(POMGNT1):c.1285-14C>G rs2148186436
NM_017739.4(POMGNT1):c.1285-17T>C rs1205438093
NM_017739.4(POMGNT1):c.1285-18A>G rs201073664
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1285-2A>T rs386834012
NM_017739.4(POMGNT1):c.1285-5C>T
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1287G>A (p.Gly429=) rs1263918453
NM_017739.4(POMGNT1):c.1290T>C (p.Tyr430=)
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
NM_017739.4(POMGNT1):c.1296C>T (p.His432=)
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr) rs2148186054
NM_017739.4(POMGNT1):c.1314A>G (p.Ala438=) rs2148185956
NM_017739.4(POMGNT1):c.1320G>A (p.Leu440=) rs1419629661
NM_017739.4(POMGNT1):c.1320G>C (p.Leu440=)
NM_017739.4(POMGNT1):c.1332G>A (p.Glu444=)
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp) rs2148185834
NM_017739.4(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_017739.4(POMGNT1):c.1341T>C (p.Pro447=) rs764844715
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
NM_017739.4(POMGNT1):c.1344G>A (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1345C>T (p.Leu449=)
NM_017739.4(POMGNT1):c.1347G>A (p.Leu449=)
NM_017739.4(POMGNT1):c.1350C>T (p.Gly450=)
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
NM_017739.4(POMGNT1):c.1363A>C (p.Arg455=)
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs) rs2148185606
NM_017739.4(POMGNT1):c.1371G>A (p.Leu457=)
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
NM_017739.4(POMGNT1):c.1374C>T (p.Tyr458=)
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.1404A>G (p.Thr468=) rs1469098458
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
NM_017739.4(POMGNT1):c.1413+14T>C
NM_017739.4(POMGNT1):c.1413+15A>C
NM_017739.4(POMGNT1):c.1413+17G>A
NM_017739.4(POMGNT1):c.1413+17G>T
NM_017739.4(POMGNT1):c.1413+18G>A
NM_017739.4(POMGNT1):c.1413+1G>T rs587777821
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1413+7G>C rs372521038
NM_017739.4(POMGNT1):c.1414-18G>A rs746924004
NM_017739.4(POMGNT1):c.1414-18G>T
NM_017739.4(POMGNT1):c.1414-19C>T rs978565899
NM_017739.4(POMGNT1):c.1414-4C>T rs1657831294
NM_017739.4(POMGNT1):c.1414-5G>C rs778744226
NM_017739.4(POMGNT1):c.1414-7C>T rs2148184559
NM_017739.4(POMGNT1):c.1414-9G>A
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1416C>T (p.Leu472=) rs2148184489
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
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.1461C>T (p.Gly487=) rs2148184086
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
NM_017739.4(POMGNT1):c.1489C>A (p.Arg497=)
NM_017739.4(POMGNT1):c.1494C>G (p.Ser498=) rs2148183687
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) rs753120009
NM_017739.4(POMGNT1):c.1503T>C (p.Phe501=) rs779251990
NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe) rs17102066
NM_017739.4(POMGNT1):c.1512C>T (p.Val504=)
NM_017739.4(POMGNT1):c.1515C>T (p.Gly505=)
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+11G>A
NM_017739.4(POMGNT1):c.1539+11G>T
NM_017739.4(POMGNT1):c.1539+12G>T
NM_017739.4(POMGNT1):c.1539+15G>A
NM_017739.4(POMGNT1):c.1539+16G>T rs2148183113
NM_017739.4(POMGNT1):c.1539+17del
NM_017739.4(POMGNT1):c.1539+18A>T
NM_017739.4(POMGNT1):c.1539+19G>A
NM_017739.4(POMGNT1):c.1539+19G>T
NM_017739.4(POMGNT1):c.1539+1G>T rs138642840
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1539+20C>G rs1298417014
NM_017739.4(POMGNT1):c.1539+20C>T
NM_017739.4(POMGNT1):c.1539+7G>A
NM_017739.4(POMGNT1):c.1540-12T>C
NM_017739.4(POMGNT1):c.1540-16C>G
NM_017739.4(POMGNT1):c.1540-19A>G
NM_017739.4(POMGNT1):c.1540-3C>T
NM_017739.4(POMGNT1):c.1540-4C>T rs2148175006
NM_017739.4(POMGNT1):c.1540-5T>C
NM_017739.4(POMGNT1):c.1540-8C>T rs2148175078
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
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.1599G>A (p.Val533=) rs2148174488
NM_017739.4(POMGNT1):c.1604+17G>T rs2148174265
NM_017739.4(POMGNT1):c.1604+18G>C rs2148174248
NM_017739.4(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.4(POMGNT1):c.1604+20C>A
NM_017739.4(POMGNT1):c.1604+8C>A rs2148174404
NM_017739.4(POMGNT1):c.1604+9T>G
NM_017739.4(POMGNT1):c.1605-11C>T
NM_017739.4(POMGNT1):c.1605-15C>T
NM_017739.4(POMGNT1):c.1605-19A>G
NM_017739.4(POMGNT1):c.1605-1G>T rs770219373
NM_017739.4(POMGNT1):c.1605-20C>T
NM_017739.4(POMGNT1):c.1605-2A>T rs2148172518
NM_017739.4(POMGNT1):c.1605-3C>T rs1457187510
NM_017739.4(POMGNT1):c.1605-6C>T rs2148172583
NM_017739.4(POMGNT1):c.1605-6_1605-5del
NM_017739.4(POMGNT1):c.1605-8_1605-6del rs2148172606
NM_017739.4(POMGNT1):c.1608G>C (p.Leu536=)
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) rs1657679725
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter) rs746196856
NM_017739.4(POMGNT1):c.1629G>A (p.Val543=) rs2148172303
NM_017739.4(POMGNT1):c.1632A>G (p.Glu544=)
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.1638C>T (p.His546=)
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_017739.4(POMGNT1):c.1649+10A>G
NM_017739.4(POMGNT1):c.1649+13A>G
NM_017739.4(POMGNT1):c.1649+16A>G rs1283340700
NM_017739.4(POMGNT1):c.1649+17T>C
NM_017739.4(POMGNT1):c.1649+18T>C
NM_017739.4(POMGNT1):c.1649+20G>A
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1650-13C>T rs1413241496
NM_017739.4(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.4(POMGNT1):c.1650-5_1650-3dup rs2148167846
NM_017739.4(POMGNT1):c.1650-7A>G
NM_017739.4(POMGNT1):c.1650-97_1728del rs2148166991
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
NM_017739.4(POMGNT1):c.1659G>A (p.Glu553=) rs750115605
NM_017739.4(POMGNT1):c.1662T>C (p.Val554=)
NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)
NM_017739.4(POMGNT1):c.1665G>A (p.Leu555=)
NM_017739.4(POMGNT1):c.1671C>T (p.His557=) rs2148167689
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
NM_017739.4(POMGNT1):c.1680C>T (p.Asn560=) rs1571647920
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
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.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1704A>G (p.Pro568=)
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.1716C>T (p.Gly572=) rs2148167217
NM_017739.4(POMGNT1):c.1719C>T (p.His573=) rs2148167171
NM_017739.4(POMGNT1):c.1722C>G (p.Thr574=)
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
NM_017739.4(POMGNT1):c.1728G>A (p.Val576=)
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr) rs1343659692
NM_017739.4(POMGNT1):c.1731C>G (p.Ala577=) rs2148166958
NM_017739.4(POMGNT1):c.1731C>T (p.Ala577=)
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.1746G>A (p.Glu582=) rs2148166820
NM_017739.4(POMGNT1):c.1749A>G (p.Lys583=)
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1755T>C (p.Asp585=)
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
NM_017739.4(POMGNT1):c.1767C>T (p.Thr589=)
NM_017739.4(POMGNT1):c.1773C>G (p.Thr591=) rs755936993
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
NM_017739.4(POMGNT1):c.1785+10T>C rs2148166357
NM_017739.4(POMGNT1):c.1785+19C>A
NM_017739.4(POMGNT1):c.1785+19C>T
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1785+20A>G
NM_017739.4(POMGNT1):c.1786-10C>T
NM_017739.4(POMGNT1):c.1786-11A>G
NM_017739.4(POMGNT1):c.1786-12C>A
NM_017739.4(POMGNT1):c.1786-14C>G
NM_017739.4(POMGNT1):c.1786-16A>G
NM_017739.4(POMGNT1):c.1786-18C>G
NM_017739.4(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.4(POMGNT1):c.1786-4C>T
NM_017739.4(POMGNT1):c.1786-8C>G
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter) rs376973640
NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=) rs376973640
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)
NM_017739.4(POMGNT1):c.1806G>A (p.Leu602=)
NM_017739.4(POMGNT1):c.1809T>C (p.Asp603=) rs372423310
NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu) rs267606962
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) rs1657578489
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter) rs1364587778
NM_017739.4(POMGNT1):c.1842G>A (p.Leu614=) rs1298358291
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.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.4(POMGNT1):c.1863C>T (p.Phe621=) rs2148163363
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1872G>C (p.Val624=) rs1168602477
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1887C>G (p.Ser629=)
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.1890C>T (p.Pro630=)
NM_017739.4(POMGNT1):c.1895+11C>T
NM_017739.4(POMGNT1):c.1895+19C>T
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1895+1G>C rs386834024
NM_017739.4(POMGNT1):c.1895+9C>G rs754452122
NM_017739.4(POMGNT1):c.1895+9C>T
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.4(POMGNT1):c.1896-10A>C rs773132049
NM_017739.4(POMGNT1):c.1896-10A>G rs773132049
NM_017739.4(POMGNT1):c.1896-11T>A
NM_017739.4(POMGNT1):c.1896-13A>C
NM_017739.4(POMGNT1):c.1896-18C>G rs1571645725
NM_017739.4(POMGNT1):c.1896-18C>T
NM_017739.4(POMGNT1):c.1896-4C>T rs2148162311
NM_017739.4(POMGNT1):c.1896-5C>T
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.1914A>C (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1914A>T (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1917C>T (p.Val639=)
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile) rs748799436
NM_017739.4(POMGNT1):c.1923A>G (p.Pro641=) rs886043958
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.1926T>A (p.Ile642=)
NM_017739.4(POMGNT1):c.1929C>T (p.Phe643=) rs2148161920
NM_017739.4(POMGNT1):c.1930C>T (p.Leu644=) rs2148161905
NM_017739.4(POMGNT1):c.1932G>A (p.Leu644=)
NM_017739.4(POMGNT1):c.1935G>A (p.Glu645=) rs2148161838
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.1950G>A (p.Glu650=) rs2148161681
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.1956A>G (p.Gly652=) rs2148161602
NM_017739.4(POMGNT1):c.1959C>T (p.Ala653=) rs2148161592
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)
NM_017739.4(POMGNT1):c.1980A>C (p.Thr660=) rs1457135444
NM_017739.4(POMGNT1):c.355-15T>C
NM_017739.4(POMGNT1):c.355-16C>G rs1571667841
NM_017739.4(POMGNT1):c.355-17T>C
NM_017739.4(POMGNT1):c.355-18G>C rs752485539
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.355-4_355-3del rs2148213665
NM_017739.4(POMGNT1):c.355-5T>C
NM_017739.4(POMGNT1):c.355-6G>A
NM_017739.4(POMGNT1):c.355-6G>T
NM_017739.4(POMGNT1):c.355-8C>G rs2148213723
NM_017739.4(POMGNT1):c.355-9A>C rs886042396
NM_017739.4(POMGNT1):c.355-9A>G rs886042396
NM_017739.4(POMGNT1):c.355-9A>T rs886042396
NM_017739.4(POMGNT1):c.357G>A (p.Val119=)
NM_017739.4(POMGNT1):c.360G>A (p.Leu120=) rs2148213580
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.378G>A (p.Glu126=)
NM_017739.4(POMGNT1):c.387G>A (p.Arg129=)
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp) rs1197810838
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.4(POMGNT1):c.399C>G (p.Val133=) rs776851436
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
NM_017739.4(POMGNT1):c.402T>A (p.Ile134=)
NM_017739.4(POMGNT1):c.408C>T (p.Leu136=)
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.420+15G>C
NM_017739.4(POMGNT1):c.420+16T>C
NM_017739.4(POMGNT1):c.420+17G>A
NM_017739.4(POMGNT1):c.420+17G>T
NM_017739.4(POMGNT1):c.420+18G>T
NM_017739.4(POMGNT1):c.420+19G>A
NM_017739.4(POMGNT1):c.420+19G>T
NM_017739.4(POMGNT1):c.420+3G>C
NM_017739.4(POMGNT1):c.420+4A>G
NM_017739.4(POMGNT1):c.420+8T>G
NM_017739.4(POMGNT1):c.421-10C>A rs2148212526
NM_017739.4(POMGNT1):c.421-12A>G
NM_017739.4(POMGNT1):c.421-14A>G
NM_017739.4(POMGNT1):c.421-20A>C
NM_017739.4(POMGNT1):c.421-29_452del rs2148212111
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.421-4C>T rs2148212442
NM_017739.4(POMGNT1):c.421-7C>G
NM_017739.4(POMGNT1):c.421-8_421-7del
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp) rs2148212411
NM_017739.4(POMGNT1):c.426del (p.His142fs)
NM_017739.4(POMGNT1):c.429G>A (p.Val143=)
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val) rs2148212293
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
NM_017739.4(POMGNT1):c.438A>G (p.Lys146=) rs1360246041
NM_017739.4(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017739.4(POMGNT1):c.453G>T (p.Thr151=)
NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)
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.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.489C>T (p.Phe163=) rs1379184772
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val) rs2148211802
NM_017739.4(POMGNT1):c.492C>G (p.Leu164=) rs562534688
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
NM_017739.4(POMGNT1):c.495C>T (p.Asn165=) rs2148211758
NM_017739.4(POMGNT1):c.504G>T (p.Ala168=) rs761978964
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) rs1271259700
NM_017739.4(POMGNT1):c.507C>G (p.Pro169=)
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser) rs1164265990
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.519C>T (p.Leu173=) rs749222507
NM_017739.4(POMGNT1):c.522C>A (p.Ile174=)
NM_017739.4(POMGNT1):c.522C>T (p.Ile174=) rs949200631
NM_017739.4(POMGNT1):c.525C>T (p.Cys175=)
NM_017739.4(POMGNT1):c.528T>C (p.Thr176=) rs1217058255
NM_017739.4(POMGNT1):c.534+17T>C
NM_017739.4(POMGNT1):c.535-10G>T rs775581321
NM_017739.4(POMGNT1):c.535-17C>T
NM_017739.4(POMGNT1):c.535-20T>A
NM_017739.4(POMGNT1):c.535-3del
NM_017739.4(POMGNT1):c.535-4C>G rs1433628796
NM_017739.4(POMGNT1):c.535-4C>T
NM_017739.4(POMGNT1):c.535-7C>G rs375913574
NM_017739.4(POMGNT1):c.535-7C>T rs375913574
NM_017739.4(POMGNT1):c.535-9G>A
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
NM_017739.4(POMGNT1):c.540G>A (p.Glu180=) rs1571664531
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.546C>T (p.Ser182=)
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.564_576del (p.Thr188_Ala189insTer) rs2148205473
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
NM_017739.4(POMGNT1):c.570G>A (p.Lys190=)
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.4(POMGNT1):c.585C>T (p.Ser195=) rs756578769
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
NM_017739.4(POMGNT1):c.588G>C (p.Leu196=)
NM_017739.4(POMGNT1):c.588G>T (p.Leu196=)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter) rs908815575
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) rs1658103117
NM_017739.4(POMGNT1):c.600T>A (p.Ala200=) rs2148205182
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr) rs982953590
NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.621G>A (p.Arg207=)
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
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.643C>A (p.Arg215=)
NM_017739.4(POMGNT1):c.652+11C>T
NM_017739.4(POMGNT1):c.652+12A>G rs1658093902
NM_017739.4(POMGNT1):c.652+18C>T
NM_017739.4(POMGNT1):c.652+18dup
NM_017739.4(POMGNT1):c.652+3G>A
NM_017739.4(POMGNT1):c.652+7G>T rs2148204470
NM_017739.4(POMGNT1):c.652+8C>A
NM_017739.4(POMGNT1):c.652+9A>T
NM_017739.4(POMGNT1):c.653-15C>T rs2148203041
NM_017739.4(POMGNT1):c.653-20T>A
NM_017739.4(POMGNT1):c.653-2A>C rs1553163721
NM_017739.4(POMGNT1):c.653-5G>A
NM_017739.4(POMGNT1):c.653-7C>T
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.4(POMGNT1):c.657T>C (p.Pro219=)
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) rs1349291334
NM_017739.4(POMGNT1):c.660C>T (p.Val220=) rs2148202862
NM_017739.4(POMGNT1):c.663C>T (p.Phe221=) rs773920830
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.672A>G (p.Lys224=) rs2148202699
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.693C>A (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.693C>T (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.711A>T (p.Pro237=)
NM_017739.4(POMGNT1):c.714C>A (p.Val238=) rs753911656
NM_017739.4(POMGNT1):c.714C>T (p.Val238=)
NM_017739.4(POMGNT1):c.717G>A (p.Leu239=)
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.747A>C (p.Ala249=) rs774008151
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.751+11_751+13dup
NM_017739.4(POMGNT1):c.751+17A>T
NM_017739.4(POMGNT1):c.751+18T>C
NM_017739.4(POMGNT1):c.751+2T>G
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751+8T>C rs1553163692
NM_017739.4(POMGNT1):c.751+9A>G rs1658063475
NM_017739.4(POMGNT1):c.751+9A>T
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
NM_017739.4(POMGNT1):c.752-11C>A rs2148200827
NM_017739.4(POMGNT1):c.752-17C>T
NM_017739.4(POMGNT1):c.752-18A>C
NM_017739.4(POMGNT1):c.752-18A>G
NM_017739.4(POMGNT1):c.752-19_752-18del rs2148200928
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val) rs2148200734
NM_017739.4(POMGNT1):c.756A>G (p.Ala252=) rs1658047083
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
NM_017739.4(POMGNT1):c.771A>G (p.Ala257=)
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
NM_017739.4(POMGNT1):c.781C>T (p.Leu261=) rs2148200441
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
NM_017739.4(POMGNT1):c.796C>A (p.Arg266=)
NM_017739.4(POMGNT1):c.804C>T (p.Phe268=) rs745902096
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.831T>C (p.Ser277=) rs2148199823
NM_017739.4(POMGNT1):c.834A>T (p.Val278=) rs1299228802
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) rs1658035130
NM_017739.4(POMGNT1):c.855A>G (p.Thr285=) rs2148199636
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
NM_017739.4(POMGNT1):c.873T>C (p.Pro291=)
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His) rs930277247
NM_017739.4(POMGNT1):c.876C>T (p.Asp292=) rs1658032176
NM_017739.4(POMGNT1):c.879+19C>T
NM_017739.4(POMGNT1):c.879+9G>T rs1413491009
NM_017739.4(POMGNT1):c.880-13A>C
NM_017739.4(POMGNT1):c.880-13A>G
NM_017739.4(POMGNT1):c.880-16G>A rs1658001956
NM_017739.4(POMGNT1):c.880-17C>T
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.880-6C>T rs1557674387
NM_017739.4(POMGNT1):c.880-7C>T
NM_017739.4(POMGNT1):c.880-9C>T rs994516915
NM_017739.4(POMGNT1):c.882C>G (p.Leu294=) rs374590423
NM_017739.4(POMGNT1):c.882C>T (p.Leu294=)
NM_017739.4(POMGNT1):c.888C>T (p.Asp296=) rs369970994
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val) rs2148196499
NM_017739.4(POMGNT1):c.915T>C (p.Ala305=)
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.931C>G (p.Arg311Gly)
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
NM_017739.4(POMGNT1):c.936C>T (p.Pro312=)
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
NM_017739.4(POMGNT1):c.948C>T (p.Tyr316=)
NM_017739.4(POMGNT1):c.950+15G>A
NM_017739.4(POMGNT1):c.950+17G>A
NM_017739.4(POMGNT1):c.950+17G>C
NM_017739.4(POMGNT1):c.950+17G>T
NM_017739.4(POMGNT1):c.950+19T>C
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys) rs1657992159
NM_017739.4(POMGNT1):c.951-15C>T
NM_017739.4(POMGNT1):c.951-16T>C
NM_017739.4(POMGNT1):c.951-19C>G
NM_017739.4(POMGNT1):c.951-20C>T
NM_017739.4(POMGNT1):c.951-4C>T rs2148194982
NM_017739.4(POMGNT1):c.951-5C>T
NM_017739.4(POMGNT1):c.951-6C>T
NM_017739.4(POMGNT1):c.951-8C>G
NM_017739.4(POMGNT1):c.951-9G>T
NM_017739.4(POMGNT1):c.960C>T (p.Arg320=) rs146933218
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
NM_017739.4(POMGNT1):c.981G>A (p.Gly327=)
NM_017739.4(POMGNT1):c.981G>C (p.Gly327=) rs1281332311
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)

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