ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 874
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.656+16C>G rs200230662 0.00041
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_013382.7(POMT2):c.1195C>T (p.Pro399Ser) rs200821647 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1333-13G>C rs755487607 0.00011
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_013382.7(POMT2):c.1089C>T (p.Pro363=) rs540688610 0.00009
NM_013382.7(POMT2):c.1786-12A>G rs537415359 0.00009
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.2033-16C>T rs1004073852 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_013382.7(POMT2):c.1887T>G (p.Val629=) rs145942005 0.00007
NM_013382.7(POMT2):c.2032+7G>C rs371121278 0.00007
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.237G>A (p.Pro79=) rs201322445 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.657-18C>T rs759654244 0.00006
NM_013382.7(POMT2):c.936C>T (p.Asp312=) rs186690580 0.00006
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.2148-15G>C rs777010788 0.00005
NM_013382.7(POMT2):c.339G>A (p.Leu113=) rs907279495 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.2058G>T (p.Arg686=) rs751651828 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.817-19C>T rs202191456 0.00004
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 0.00004
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1320C>T (p.Thr440=) rs143342682 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.2040G>A (p.Leu680=) rs951171938 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.248+9T>C rs754261430 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1029C>T (p.Ile343=) rs758645178 0.00002
NM_013382.7(POMT2):c.1032T>C (p.Thr344=) rs748370238 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1786-5C>G rs369026034 0.00002
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.2148-6T>A rs1242617887 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.548-17G>A rs775177109 0.00002
NM_013382.7(POMT2):c.548-18C>T rs762471841 0.00002
NM_013382.7(POMT2):c.672C>T (p.Pro224=) rs147619625 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.816+8C>T rs187166139 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_013382.7(POMT2):c.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1184-14T>C rs199871120 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1410G>A (p.Leu470=) rs1890394018 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1484+14G>A rs1263576526 0.00001
NM_013382.7(POMT2):c.1484+9C>G rs760349322 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) rs775728269 0.00001
NM_013382.7(POMT2):c.1518A>G (p.Pro506=) rs1380319239 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00001
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) rs534663839 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.177C>T (p.Ala59=) rs761956817 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.181C>T (p.Leu61=) rs774150334 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1873C>T (p.Leu625=) rs1393855564 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1959G>A (p.Pro653=) rs775222771 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.196C>T (p.Leu66=) rs528060377 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2032+19G>A rs1300533131 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.2046C>T (p.Asp682=) rs746369367 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2100C>A (p.Gly700=) rs905496812 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2147+7A>C rs1472805344 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.216C>T (p.Arg72=) rs1891833559 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.2250T>C (p.Phe750=) rs1890006083 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.240G>A (p.Pro80=) rs1346021636 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00001
NM_013382.7(POMT2):c.258G>A (p.Glu86=) rs956763108 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.439-9C>T rs777960032 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.480C>T (p.Tyr160=) rs1202494830 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.486T>C (p.Thr162=) rs766222032 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.547+17A>G rs1485846490 0.00001
NM_013382.7(POMT2):c.548-12C>T rs773717014 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.636G>A (p.Lys212=) rs368906346 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.660C>T (p.Pro220=) rs1377744438 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.699C>T (p.Gly233=) rs375257656 0.00001
NM_013382.7(POMT2):c.69C>T (p.Pro23=) rs527728447 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.762G>T (p.Gly254=) rs1457542706 0.00001
NM_013382.7(POMT2):c.774T>C (p.Ile258=) rs748022643 0.00001
NM_013382.7(POMT2):c.816+13G>A rs1283872799 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-5C>G rs570851802 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NC_000014.8:g.(?_77743719)_(77772804_?)del
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000014.8:g.(?_77757637)_(77757743_?)del
NC_000014.8:g.(?_77757660)_(77763722_?)del
NM_013382.5(POMT2):c.1170_1171del rs764210532
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+16C>G
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006+9C>T
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1007-11C>G
NM_013382.7(POMT2):c.1007-12C>T
NM_013382.7(POMT2):c.1007-13C>G
NM_013382.7(POMT2):c.1007-15C>T
NM_013382.7(POMT2):c.1007-17G>C
NM_013382.7(POMT2):c.1007-20G>A
NM_013382.7(POMT2):c.1007-20G>T
NM_013382.7(POMT2):c.1007-9T>G
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs) rs1890825132
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1044C>T (p.Leu348=) rs267604062
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1056C>T (p.Ile352=)
NM_013382.7(POMT2):c.1071C>G (p.Ser357=)
NM_013382.7(POMT2):c.1074C>T (p.His358=)
NM_013382.7(POMT2):c.1077G>A (p.Arg359=)
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1110G>A (p.Gln370=)
NM_013382.7(POMT2):c.1116+10C>T
NM_013382.7(POMT2):c.1116+17T>C
NM_013382.7(POMT2):c.1116+8A>C
NM_013382.7(POMT2):c.1117-11C>T
NM_013382.7(POMT2):c.1117-12C>A rs535647699
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117-12C>T
NM_013382.7(POMT2):c.1117-14C>A
NM_013382.7(POMT2):c.1117-16CCCACCC[3]
NM_013382.7(POMT2):c.1117-17C>G
NM_013382.7(POMT2):c.1117-19G>A
NM_013382.7(POMT2):c.1117-19G>T
NM_013382.7(POMT2):c.1117-7C>A
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1117-7C>T rs201921627
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1119C>T (p.Val373=)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
NM_013382.7(POMT2):c.1137G>A (p.Lys379=)
NM_013382.7(POMT2):c.1150C>T (p.Leu384=)
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1179C>T (p.Asn393=)
NM_013382.7(POMT2):c.1183+11C>T
NM_013382.7(POMT2):c.1183+13G>A rs2140203548
NM_013382.7(POMT2):c.1184-11C>G
NM_013382.7(POMT2):c.1184-12T>A
NM_013382.7(POMT2):c.1184-19G>C
NM_013382.7(POMT2):c.1184-5G>T
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
NM_013382.7(POMT2):c.1206A>G (p.Pro402=)
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1239A>C (p.Arg413=)
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
NM_013382.7(POMT2):c.1253+13G>T
NM_013382.7(POMT2):c.1253+16del
NM_013382.7(POMT2):c.1254-13_1254-12del rs2140188664
NM_013382.7(POMT2):c.1254-16C>G
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1254-6T>G
NM_013382.7(POMT2):c.1254-9A>G rs1594890973
NM_013382.7(POMT2):c.1261C>A (p.Arg421=)
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1272C>T (p.His424=) rs1328987547
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.1293C>T (p.Pro431=)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.12C>T (p.Ala4=)
NM_013382.7(POMT2):c.1300del (p.Arg434fs) rs2140188352
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.130C>A (p.Arg44=) rs2139551017
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
NM_013382.7(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1332+10C>A
NM_013382.7(POMT2):c.1332+10del
NM_013382.7(POMT2):c.1332+12A>G
NM_013382.7(POMT2):c.1332+17G>A
NM_013382.7(POMT2):c.1332+19T>C
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+20G>A
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.1333-16T>C
NM_013382.7(POMT2):c.1333-17C>A
NM_013382.7(POMT2):c.1333-6T>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1350A>T (p.Ser450=) rs750632019
NM_013382.7(POMT2):c.135T>A (p.Pro45=) rs1891844737
NM_013382.7(POMT2):c.1371G>A (p.Glu457=)
NM_013382.7(POMT2):c.1374C>T (p.Val458=)
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.138T>C (p.Ala46=)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1452C>T (p.Val484=)
NM_013382.7(POMT2):c.1453C>T (p.Leu485=)
NM_013382.7(POMT2):c.1461C>T (p.Ser487=)
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1464G>T (p.Ser488=)
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1479C>T (p.Pro493=) rs769462000
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1482G>A (p.Lys494=)
NM_013382.7(POMT2):c.1484+13G>A
NM_013382.7(POMT2):c.1484+19G>T
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.1484+7C>T
NM_013382.7(POMT2):c.1485-14T>C
NM_013382.7(POMT2):c.1485-20G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.1494G>A (p.Glu498=)
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1527A>G (p.Lys509=)
NM_013382.7(POMT2):c.1536C>T (p.Leu512=)
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1539C>T (p.Asn513=)
NM_013382.7(POMT2):c.153C>T (p.Arg51=)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter) rs1379963762
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+13A>G
NM_013382.7(POMT2):c.1576+14C>T
NM_013382.7(POMT2):c.1576+20G>A
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1577-19C>T
NM_013382.7(POMT2):c.1577-7C>T
NM_013382.7(POMT2):c.1577-8T>C
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
NM_013382.7(POMT2):c.1593G>C (p.Leu531=)
NM_013382.7(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.162G>C (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1635C>T (p.Ser545=)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1638C>T (p.His546=) rs2140179482
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1653+10C>T
NM_013382.7(POMT2):c.1653+11C>A
NM_013382.7(POMT2):c.1653+14T>C
NM_013382.7(POMT2):c.1653+17C>T rs1268392742
NM_013382.7(POMT2):c.1653+20T>G
NM_013382.7(POMT2):c.1654-11C>T
NM_013382.7(POMT2):c.1654-12A>G
NM_013382.7(POMT2):c.1654-15G>C
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1654-5T>C rs1594885955
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-6A>C
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1668C>G (p.Leu556=)
NM_013382.7(POMT2):c.1671A>G (p.Lys557=)
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.1674C>T (p.Pro558=)
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1713T>C (p.Pro571=)
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1725+11A>G
NM_013382.7(POMT2):c.1725+14C>G
NM_013382.7(POMT2):c.1725+15T>C
NM_013382.7(POMT2):c.1725+17G>A
NM_013382.7(POMT2):c.1725+18G>C
NM_013382.7(POMT2):c.1725+19G>A
NM_013382.7(POMT2):c.1725+8C>G
NM_013382.7(POMT2):c.1726-11C>G
NM_013382.7(POMT2):c.1726-11C>T
NM_013382.7(POMT2):c.1726-19G>T rs530158780
NM_013382.7(POMT2):c.1726-20G>A
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1740A>C (p.Ser580=)
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1746C>A (p.Val582=)
NM_013382.7(POMT2):c.1749T>C (p.Asn583=) rs1416940075
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) rs1555351894
NM_013382.7(POMT2):c.1767C>G (p.Val589=)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1776T>G (p.Leu592=)
NM_013382.7(POMT2):c.1782C>T (p.Asn594=)
NM_013382.7(POMT2):c.1785+15A>G
NM_013382.7(POMT2):c.1785+17T>G
NM_013382.7(POMT2):c.1785+6dup
NM_013382.7(POMT2):c.1785+7G>A
NM_013382.7(POMT2):c.1785+8C>T
NM_013382.7(POMT2):c.1786-15C>G
NM_013382.7(POMT2):c.1786-4A>G
NM_013382.7(POMT2):c.1786-7T>C
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1800G>C (p.Leu600=)
NM_013382.7(POMT2):c.1800G>T (p.Leu600=) rs757165656
NM_013382.7(POMT2):c.1803T>C (p.Asn601=)
NM_013382.7(POMT2):c.180G>C (p.Leu60=)
NM_013382.7(POMT2):c.1815C>T (p.Ile605=)
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1818C>T (p.Ala606=)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1839C>T (p.Ser613=) rs1400122508
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1854C>G (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1875G>C (p.Leu625=)
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.1891+12T>G
NM_013382.7(POMT2):c.1891+13G>A rs2140166262
NM_013382.7(POMT2):c.1891+14G>A
NM_013382.7(POMT2):c.1891+15G>T
NM_013382.7(POMT2):c.1891+16C>T
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-14C>G
NM_013382.7(POMT2):c.1892-15G>A
NM_013382.7(POMT2):c.1892-16T>C
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1892-5C>T
NM_013382.7(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.7(POMT2):c.1908G>A (p.Leu636=)
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe) rs2140162404
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1917A>G (p.Gly639=)
NM_013382.7(POMT2):c.1926G>A (p.Gln642=)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
NM_013382.7(POMT2):c.1935C>A (p.Leu645=) rs141193672
NM_013382.7(POMT2):c.1944A>C (p.Thr648=)
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.1959G>T (p.Pro653=)
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)
NM_013382.7(POMT2):c.198G>C (p.Leu66=)
NM_013382.7(POMT2):c.1992C>T (p.His664=) rs143329994
NM_013382.7(POMT2):c.1995C>T (p.His665=)
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2004A>C (p.Pro668=) rs750930174
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2032+14A>C
NM_013382.7(POMT2):c.2032+15C>T rs1380951819
NM_013382.7(POMT2):c.2032+19G>T rs1300533131
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2032+20_2032+25del
NM_013382.7(POMT2):c.2032+8C>T
NM_013382.7(POMT2):c.2033-11C>T
NM_013382.7(POMT2):c.2033-14C>G
NM_013382.7(POMT2):c.2033-14C>T
NM_013382.7(POMT2):c.2033-15T>C
NM_013382.7(POMT2):c.2033-18T>C
NM_013382.7(POMT2):c.2033-7C>A
NM_013382.7(POMT2):c.2034C>T (p.Gly678=)
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2049C>T (p.Thr683=)
NM_013382.7(POMT2):c.2055G>A (p.Leu685=)
NM_013382.7(POMT2):c.2061C>T (p.Leu687=)
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
NM_013382.7(POMT2):c.2074T>C (p.Leu692=)
NM_013382.7(POMT2):c.2079C>T (p.Ala693=)
NM_013382.7(POMT2):c.2082A>C (p.Ser694=)
NM_013382.7(POMT2):c.2082A>G (p.Ser694=)
NM_013382.7(POMT2):c.2082A>T (p.Ser694=)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2088C>T (p.Pro696=)
NM_013382.7(POMT2):c.2094G>A (p.Ala698=)
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2121G>A (p.Leu707=)
NM_013382.7(POMT2):c.2121G>C (p.Leu707=)
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2130C>T (p.Leu710=)
NM_013382.7(POMT2):c.213C>T (p.Thr71=)
NM_013382.7(POMT2):c.2142C>A (p.Ala714=)
NM_013382.7(POMT2):c.2142C>T (p.Ala714=)
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2147+10T>G
NM_013382.7(POMT2):c.2147+13G>A
NM_013382.7(POMT2):c.2147+14C>T
NM_013382.7(POMT2):c.2147+15A>G
NM_013382.7(POMT2):c.2147+1G>A
NM_013382.7(POMT2):c.2148-14G>A
NM_013382.7(POMT2):c.2148-20C>T
NM_013382.7(POMT2):c.2151C>T (p.Phe717=)
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2163C>T (p.His721=)
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2166T>C (p.Pro722=)
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.2190C>T (p.Pro730=)
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.219C>T (p.Phe73=)
NM_013382.7(POMT2):c.2205C>A (p.Pro735=)
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.2241A>G (p.Ser747=)
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
NM_013382.7(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.234G>A (p.Glu78=)
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.248+13A>C
NM_013382.7(POMT2):c.248+15G>T
NM_013382.7(POMT2):c.248+16G>T rs1891826465
NM_013382.7(POMT2):c.248+18C>A
NM_013382.7(POMT2):c.248+19T>A
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.249-11G>A
NM_013382.7(POMT2):c.249-15C>T
NM_013382.7(POMT2):c.249-16T>C
NM_013382.7(POMT2):c.249-18T>C
NM_013382.7(POMT2):c.249-19C>G
NM_013382.7(POMT2):c.249-19C>T
NM_013382.7(POMT2):c.249-8dup rs1891454173
NM_013382.7(POMT2):c.25C>T (p.Leu9=) rs1280735533
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.261T>C (p.Thr87=)
NM_013382.7(POMT2):c.270A>C (p.Gly90=)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.288T>C (p.Tyr96=) rs2139518411
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.297T>C (p.Arg99=)
NM_013382.7(POMT2):c.30A>G (p.Ala10=) rs2139552052
NM_013382.7(POMT2):c.318C>T (p.His106=) rs2139518201
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.324C>T (p.Pro108=)
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.333+10G>A
NM_013382.7(POMT2):c.333+18T>A
NM_013382.7(POMT2):c.334-13C>A
NM_013382.7(POMT2):c.334-16G>A
NM_013382.7(POMT2):c.334-8C>G
NM_013382.7(POMT2):c.33G>A (p.Glu11=) rs776638993
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.369T>C (p.Tyr123=)
NM_013382.7(POMT2):c.36C>T (p.Ser12=) rs771074829
NM_013382.7(POMT2):c.382T>C (p.Leu128=)
NM_013382.7(POMT2):c.383del (p.Leu128fs)
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.393G>A (p.Lys131=)
NM_013382.7(POMT2):c.399G>A (p.Gly133=)
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.411G>A (p.Glu137=)
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
NM_013382.7(POMT2):c.438+12T>A rs2139500656
NM_013382.7(POMT2):c.438+16T>C
NM_013382.7(POMT2):c.438+16T>G
NM_013382.7(POMT2):c.439-18del
NM_013382.7(POMT2):c.439-6C>T
NM_013382.7(POMT2):c.447A>G (p.Ala149=)
NM_013382.7(POMT2):c.450C>T (p.Phe150=)
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.471C>T (p.Pro157=)
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.477C>G (p.Ala159=)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.513G>A (p.Ser171=)
NM_013382.7(POMT2):c.51G>A (p.Arg17=) rs1891853487
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.543C>T (p.Thr181=) rs2139493837
NM_013382.7(POMT2):c.547+10C>T
NM_013382.7(POMT2):c.547+12T>C
NM_013382.7(POMT2):c.547+16del
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548-11A>G
NM_013382.7(POMT2):c.548-14C>T
NM_013382.7(POMT2):c.548-16A>G
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.548-9G>A rs1891100155
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.54G>A (p.Arg18=)
NM_013382.7(POMT2):c.552G>A (p.Thr184=)
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.564T>C (p.Thr188=)
NM_013382.7(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.591C>T (p.Pro197=)
NM_013382.7(POMT2):c.594C>T (p.Ile198=)
NM_013382.7(POMT2):c.595C>T (p.Leu199=)
NM_013382.7(POMT2):c.60C>A (p.Arg20=)
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.624G>A (p.Leu208=)
NM_013382.7(POMT2):c.627C>T (p.Ser209=)
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.639C>T (p.Tyr213=)
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.645T>C (p.Ser215=)
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.656+10T>A
NM_013382.7(POMT2):c.656+17C>T
NM_013382.7(POMT2):c.656+18C>T
NM_013382.7(POMT2):c.656+19G>A
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.656+20G>T
NM_013382.7(POMT2):c.656+9C>G
NM_013382.7(POMT2):c.657-14T>A
NM_013382.7(POMT2):c.657-15C>T
NM_013382.7(POMT2):c.657-17G>A
NM_013382.7(POMT2):c.657-18C>A
NM_013382.7(POMT2):c.657-18_657-15del
NM_013382.7(POMT2):c.657-20T>G rs1032925016
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.657-4T>G
NM_013382.7(POMT2):c.657-4del rs777481709
NM_013382.7(POMT2):c.657-7dup rs777481709
NM_013382.7(POMT2):c.657-9G>C rs1359971151
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.690C>T (p.Ser230=) rs895876912
NM_013382.7(POMT2):c.6G>C (p.Pro2=)
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
NM_013382.7(POMT2):c.717T>G (p.Ala239=)
NM_013382.7(POMT2):c.741C>G (p.Leu247=)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.768C>T (p.Asn256=)
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.780C>T (p.Asp260=) rs2139480330
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.790C>T (p.Leu264=)
NM_013382.7(POMT2):c.791del (p.Leu264fs) rs1891020302
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.814T>C (p.Leu272=)
NM_013382.7(POMT2):c.816+14G>C
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.817-10C>G rs942797478
NM_013382.7(POMT2):c.817-14G>C
NM_013382.7(POMT2):c.817-20A>G rs1566655273
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.843T>G (p.Ala281=)
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.849C>T (p.Val283=)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.855C>T (p.Cys285=)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.870C>T (p.Pro290=)
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.879C>G (p.Leu293=) rs2139473776
NM_013382.7(POMT2):c.879_880del (p.Thr295fs) rs752440109
NM_013382.7(POMT2):c.87A>G (p.Ala29=)
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.894T>C (p.Phe298=)
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.903C>T (p.His301=)
NM_013382.7(POMT2):c.90C>G (p.Gly30=)
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+12G>A
NM_013382.7(POMT2):c.923+12G>T
NM_013382.7(POMT2):c.923+19C>A
NM_013382.7(POMT2):c.923+20A>G
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.923+7A>G rs2139473467
NM_013382.7(POMT2):c.923+8C>T
NM_013382.7(POMT2):c.923+8_923+11del rs1272206712
NM_013382.7(POMT2):c.924-12C>G
NM_013382.7(POMT2):c.924-12C>T
NM_013382.7(POMT2):c.924-16C>T
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_013382.7(POMT2):c.924-4A>G
NM_013382.7(POMT2):c.924-5C>A
NM_013382.7(POMT2):c.924-7C>T
NM_013382.7(POMT2):c.927C>T (p.Gly309=)
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.981C>T (p.Asn327=) rs747147327
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.990T>C (p.Asn330=)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117
NM_013382.7(POMT2):c.9G>A (p.Pro3=) rs1594813347

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