ClinVar Miner

List of variants in gene TELO2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_016111.4(TELO2):c.20A>G (p.Glu7Gly) rs2667661 0.24369
NM_016111.4(TELO2):c.19G>C (p.Glu7Gln) rs2667660 0.24325
NM_016111.4(TELO2):c.798T>C (p.Ala266=) rs2745108 0.23630
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_016111.4(TELO2):c.1003-20G>A rs113870882 0.04844
NM_016111.4(TELO2):c.1532C>T (p.Ala511Val) rs58099766 0.02228
NM_016111.4(TELO2):c.1769C>T (p.Pro590Leu) rs74466211 0.02047
NM_016111.4(TELO2):c.75C>T (p.Gly25=) rs9934280 0.01935
NM_016111.4(TELO2):c.1770+10C>T rs142803978 0.01856
NM_016111.4(TELO2):c.613+18G>C rs117268078 0.01716
NM_016111.4(TELO2):c.1064C>T (p.Pro355Leu) rs147777945 0.01143
NM_016111.4(TELO2):c.2023C>T (p.Arg675Trp) rs74002291 0.01124
NM_016111.4(TELO2):c.2142C>T (p.Phe714=) rs61744765 0.01018
NM_016111.4(TELO2):c.1145-15G>A rs75303234 0.00955
NM_016111.4(TELO2):c.682+20C>T rs146950517 0.00770
NM_016111.4(TELO2):c.1543G>T (p.Val515Phe) rs116528933 0.00723
NM_016111.4(TELO2):c.1303C>T (p.Leu435Phe) rs61739594 0.00720
NM_016111.4(TELO2):c.950G>A (p.Ser317Asn) rs118041797 0.00707
NM_016111.4(TELO2):c.578T>C (p.Val193Ala) rs141647559 0.00292
NM_016111.4(TELO2):c.2292-6C>T rs151180002 0.00279
NM_016111.4(TELO2):c.2287G>A (p.Asp763Asn) rs116500468 0.00237
NM_016111.4(TELO2):c.2408-9G>T rs192700790 0.00210
NM_016111.4(TELO2):c.1974G>A (p.Ala658=) rs141113733 0.00200
NM_016111.4(TELO2):c.832C>G (p.Pro278Ala) rs148740663 0.00182
NM_016111.4(TELO2):c.1959T>A (p.Pro653=) rs61739367 0.00169
NM_016111.4(TELO2):c.910C>T (p.Leu304=) rs142640113 0.00121
NM_016111.4(TELO2):c.74G>A (p.Gly25Asp) rs139642236 0.00108
NM_016111.4(TELO2):c.336-6C>G rs149959107 0.00103
NM_016111.4(TELO2):c.1819C>T (p.Arg607Trp) rs146401595 0.00098
NM_016111.4(TELO2):c.1617G>A (p.Glu539=) rs375073875 0.00093
NM_016111.4(TELO2):c.31G>A (p.Ala11Thr) rs140903666 0.00092
NM_016111.4(TELO2):c.32C>A (p.Ala11Asp) rs144863771 0.00092
NM_016111.4(TELO2):c.1281+6C>T rs200073796 0.00091
NM_016111.4(TELO2):c.1863G>A (p.Gln621=) rs150639823 0.00090
NM_016111.4(TELO2):c.2295C>T (p.Tyr765=) rs201365298 0.00080
NM_016111.4(TELO2):c.2292-5G>A rs375484274 0.00056
NM_016111.4(TELO2):c.686A>G (p.Glu229Gly) rs563480879 0.00056
NM_016111.4(TELO2):c.1701C>A (p.Thr567=) rs149485351 0.00054
NM_016111.4(TELO2):c.1554C>T (p.Cys518=) rs146952791 0.00037
NM_016111.4(TELO2):c.1204G>A (p.Val402Met) rs146959869 0.00034
NM_016111.4(TELO2):c.586C>T (p.Leu196=) rs138771587 0.00034
NM_016111.4(TELO2):c.1489C>T (p.Pro497Ser) rs140861723 0.00030
NM_016111.4(TELO2):c.1973C>T (p.Ala658Val) rs147858841 0.00023
NM_016111.4(TELO2):c.345C>T (p.Phe115=) rs564928862 0.00021
NM_016111.4(TELO2):c.60G>A (p.Ser20=) rs140140646 0.00021
NM_016111.4(TELO2):c.2328C>T (p.Ser776=) rs201907553 0.00017
NM_016111.4(TELO2):c.2376C>T (p.Asp792=) rs200969710 0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016111.4(TELO2):c.382C>T (p.Leu128=) rs748398761 0.00016
NM_016111.4(TELO2):c.1887C>T (p.Leu629=) rs200400876 0.00015
NM_016111.4(TELO2):c.238C>A (p.His80Asn) rs199863486 0.00014
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_016111.4(TELO2):c.336C>A (p.Gly112=) rs766255081 0.00011
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_016111.4(TELO2):c.933+10C>A rs1417720616 0.00006
NM_016111.4(TELO2):c.1361+7G>A rs769277009 0.00004
NM_016111.4(TELO2):c.1425C>T (p.Gly475=) rs372121074 0.00004
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile) rs775272837 0.00004
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00004
NM_016111.4(TELO2):c.194G>C (p.Cys65Ser) rs141008024 0.00004
NM_016111.4(TELO2):c.933+8C>T rs776371581 0.00004
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_016111.4(TELO2):c.2505G>A (p.Ala835=) rs546196109 0.00003
NM_016111.4(TELO2):c.1919C>T (p.Pro640Leu) rs750629442 0.00002
NM_016111.4(TELO2):c.2026C>T (p.Leu676Phe) rs760719554 0.00002
NM_016111.4(TELO2):c.2275C>T (p.Arg759Cys) rs148721289 0.00002
NM_016111.4(TELO2):c.390G>C (p.Glu130Asp) rs760420846 0.00002
NM_016111.4(TELO2):c.593C>T (p.Ala198Val) rs768321499 0.00002
NM_016111.4(TELO2):c.1502C>T (p.Ser501Leu) rs377430333 0.00001
NM_016111.4(TELO2):c.1561+8C>T rs767516647 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.1842+5G>A rs758551997 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_016111.4(TELO2):c.430C>G (p.Gln144Glu) rs568782545 0.00001
NM_016111.4(TELO2):c.441C>T (p.Pro147=) rs769240165 0.00001
NM_016111.4(TELO2):c.697G>A (p.Val233Met) rs915419523 0.00001
NM_016111.4(TELO2):c.706C>G (p.Pro236Ala) rs1446819953 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
NM_016111.4(TELO2):c.801G>T (p.Val267=) rs773741940 0.00001
NM_016111.4(TELO2):c.864G>C (p.Leu288=) rs767967393 0.00001
NC_000016.9:g.(?_1544283)_(1547529_?)dup
NC_000016.9:g.(?_1550077)_(1553023_?)del
NC_000016.9:g.(?_1555391)_(1555622_?)del
NM_016111.4(TELO2):c.1002+10T>G
NM_016111.4(TELO2):c.1002+15G>T
NM_016111.4(TELO2):c.1002+4C>T
NM_016111.4(TELO2):c.1002+9_1002+29dup
NM_016111.4(TELO2):c.1003-13A>G
NM_016111.4(TELO2):c.1003-17G>A
NM_016111.4(TELO2):c.1003-19T>C
NM_016111.4(TELO2):c.1003-4G>T
NM_016111.4(TELO2):c.1008G>A (p.Leu336=)
NM_016111.4(TELO2):c.1023G>A (p.Glu341=)
NM_016111.4(TELO2):c.1026G>A (p.Thr342=) rs144483656
NM_016111.4(TELO2):c.1035C>T (p.Ser345=)
NM_016111.4(TELO2):c.1040G>A (p.Ser347Asn)
NM_016111.4(TELO2):c.1049G>A (p.Arg350His)
NM_016111.4(TELO2):c.1065G>A (p.Pro355=) rs759343790
NM_016111.4(TELO2):c.106A>G (p.Lys36Glu)
NM_016111.4(TELO2):c.1077C>T (p.His359=)
NM_016111.4(TELO2):c.1098C>T (p.Ile366=)
NM_016111.4(TELO2):c.109C>T (p.Arg37Trp)
NM_016111.4(TELO2):c.1110A>G (p.Gln370=)
NM_016111.4(TELO2):c.1110del (p.Gln370fs) rs2141037423
NM_016111.4(TELO2):c.1113C>T (p.Leu371=)
NM_016111.4(TELO2):c.1114G>A (p.Gly372Arg)
NM_016111.4(TELO2):c.1122G>C (p.Pro374=)
NM_016111.4(TELO2):c.1131G>A (p.Arg377=)
NM_016111.4(TELO2):c.1140G>A (p.Arg380=)
NM_016111.4(TELO2):c.1144+11G>A
NM_016111.4(TELO2):c.1144+12G>A
NM_016111.4(TELO2):c.1144+17G>A
NM_016111.4(TELO2):c.1144+6C>T
NM_016111.4(TELO2):c.1145-17C>T
NM_016111.4(TELO2):c.1170C>T (p.Gly390=)
NM_016111.4(TELO2):c.1179C>T (p.Cys393=)
NM_016111.4(TELO2):c.117C>G (p.Leu39=)
NM_016111.4(TELO2):c.1181G>A (p.Arg394His)
NM_016111.4(TELO2):c.1203C>T (p.Pro401=)
NM_016111.4(TELO2):c.1207C>T (p.Arg403Ter)
NM_016111.4(TELO2):c.1211G>T (p.Arg404Leu)
NM_016111.4(TELO2):c.1224C>T (p.Ile408=)
NM_016111.4(TELO2):c.1225G>A (p.Val409Met)
NM_016111.4(TELO2):c.1233G>A (p.Glu411=)
NM_016111.4(TELO2):c.1236C>T (p.Val412=)
NM_016111.4(TELO2):c.1246C>T (p.Arg416Trp)
NM_016111.4(TELO2):c.1257C>T (p.Pro419=)
NM_016111.4(TELO2):c.1258G>A (p.Glu420Lys)
NM_016111.4(TELO2):c.1268C>G (p.Pro423Arg)
NM_016111.4(TELO2):c.1268C>T (p.Pro423Leu)
NM_016111.4(TELO2):c.1281+11C>T
NM_016111.4(TELO2):c.1281+12G>A
NM_016111.4(TELO2):c.1281+18T>G
NM_016111.4(TELO2):c.1281+19C>T
NM_016111.4(TELO2):c.1281+20C>A
NM_016111.4(TELO2):c.1281+20C>T
NM_016111.4(TELO2):c.1281+7G>A
NM_016111.4(TELO2):c.1282-16T>C
NM_016111.4(TELO2):c.1282-9C>T
NM_016111.4(TELO2):c.1284C>T (p.Tyr428=)
NM_016111.4(TELO2):c.1285G>A (p.Glu429Lys)
NM_016111.4(TELO2):c.1287A>T (p.Glu429Asp)
NM_016111.4(TELO2):c.129G>A (p.Glu43=)
NM_016111.4(TELO2):c.1305C>T (p.Leu435=)
NM_016111.4(TELO2):c.1317C>T (p.Ala439=)
NM_016111.4(TELO2):c.1325C>G (p.Ser442Cys) rs144270498
NM_016111.4(TELO2):c.1329C>G (p.Pro443=)
NM_016111.4(TELO2):c.132T>G (p.Pro44=)
NM_016111.4(TELO2):c.1330C>G (p.Gln444Glu)
NM_016111.4(TELO2):c.1337C>T (p.Ala446Val)
NM_016111.4(TELO2):c.1341T>A (p.Gly447=) rs1596260184
NM_016111.4(TELO2):c.1344C>T (p.Asp448=)
NM_016111.4(TELO2):c.1347C>T (p.Gly449=)
NM_016111.4(TELO2):c.1353G>A (p.Ser451=)
NM_016111.4(TELO2):c.1355A>C (p.Glu452Ala)
NM_016111.4(TELO2):c.1358C>T (p.Ala453Val)
NM_016111.4(TELO2):c.1361+16C>T
NM_016111.4(TELO2):c.1361+19C>T
NM_016111.4(TELO2):c.1361+5G>A
NM_016111.4(TELO2):c.1363A>G (p.Thr455Ala)
NM_016111.4(TELO2):c.1364C>T (p.Thr455Met)
NM_016111.4(TELO2):c.1365G>A (p.Thr455=)
NM_016111.4(TELO2):c.137C>T (p.Ala46Val)
NM_016111.4(TELO2):c.1382C>A (p.Thr461Lys)
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1383G>A (p.Thr461=)
NM_016111.4(TELO2):c.1405C>T (p.Pro469Ser)
NM_016111.4(TELO2):c.1407C>T (p.Pro469=)
NM_016111.4(TELO2):c.1416C>T (p.Ile472=)
NM_016111.4(TELO2):c.1427G>T (p.Gly476Val)
NM_016111.4(TELO2):c.1428C>T (p.Gly476=)
NM_016111.4(TELO2):c.1429G>A (p.Val477Ile)
NM_016111.4(TELO2):c.1448C>T (p.Ala483Val)
NM_016111.4(TELO2):c.1449G>A (p.Ala483=)
NM_016111.4(TELO2):c.1461G>A (p.Ser487=)
NM_016111.4(TELO2):c.1465C>G (p.Leu489Val)
NM_016111.4(TELO2):c.1473-15T>A
NM_016111.4(TELO2):c.1490C>A (p.Pro497His)
NM_016111.4(TELO2):c.1494C>T (p.Tyr498=)
NM_016111.4(TELO2):c.1503G>A (p.Ser501=)
NM_016111.4(TELO2):c.1506G>A (p.Gly502=)
NM_016111.4(TELO2):c.1519A>G (p.Lys507Glu)
NM_016111.4(TELO2):c.1531G>T (p.Ala511Ser)
NM_016111.4(TELO2):c.1561+11G>T
NM_016111.4(TELO2):c.1561+13C>T
NM_016111.4(TELO2):c.1561+20G>C
NM_016111.4(TELO2):c.1561+9G>A
NM_016111.4(TELO2):c.1562-11G>A
NM_016111.4(TELO2):c.1589G>A (p.Arg530His)
NM_016111.4(TELO2):c.1589G>T (p.Arg530Leu)
NM_016111.4(TELO2):c.1602C>T (p.Ala534=)
NM_016111.4(TELO2):c.1606C>T (p.Arg536Trp)
NM_016111.4(TELO2):c.1608G>A (p.Arg536=)
NM_016111.4(TELO2):c.1609G>T (p.Ala537Ser)
NM_016111.4(TELO2):c.1613T>C (p.Leu538Pro)
NM_016111.4(TELO2):c.1614T>C (p.Leu538=)
NM_016111.4(TELO2):c.1630A>T (p.Arg544Trp)
NM_016111.4(TELO2):c.1648C>T (p.Arg550Trp)
NM_016111.4(TELO2):c.1652del (p.Glu551fs)
NM_016111.4(TELO2):c.1653+12G>A
NM_016111.4(TELO2):c.1653+12dup
NM_016111.4(TELO2):c.1653+18G>C
NM_016111.4(TELO2):c.1653+6T>C
NM_016111.4(TELO2):c.1653+7G>T
NM_016111.4(TELO2):c.1653+8G>C
NM_016111.4(TELO2):c.1654-11C>G
NM_016111.4(TELO2):c.1654-11C>T
NM_016111.4(TELO2):c.1654-19C>T
NM_016111.4(TELO2):c.1654-7C>T
NM_016111.4(TELO2):c.1663G>A (p.Glu555Lys)
NM_016111.4(TELO2):c.1666C>T (p.Leu556=)
NM_016111.4(TELO2):c.1672A>G (p.Lys558Glu)
NM_016111.4(TELO2):c.168G>A (p.Ser56=)
NM_016111.4(TELO2):c.1722G>C (p.Gly574=) rs1246466212
NM_016111.4(TELO2):c.1726C>T (p.Arg576Cys)
NM_016111.4(TELO2):c.1727G>A (p.Arg576His)
NM_016111.4(TELO2):c.1751C>T (p.Thr584Met)
NM_016111.4(TELO2):c.1752G>A (p.Thr584=)
NM_016111.4(TELO2):c.1753G>A (p.Val585Ile)
NM_016111.4(TELO2):c.1764G>A (p.Pro588=)
NM_016111.4(TELO2):c.1770+11G>A rs113189356
NM_016111.4(TELO2):c.1770+12C>T
NM_016111.4(TELO2):c.1770+17G>A
NM_016111.4(TELO2):c.1770+20G>A
NM_016111.4(TELO2):c.1770+3G>T rs1555471460
NM_016111.4(TELO2):c.1776C>T (p.Ala592=)
NM_016111.4(TELO2):c.1777G>A (p.Asp593Asn)
NM_016111.4(TELO2):c.1782T>C (p.Tyr594=)
NM_016111.4(TELO2):c.1792C>G (p.Gln598Glu)
NM_016111.4(TELO2):c.1794G>C (p.Gln598His)
NM_016111.4(TELO2):c.1799A>G (p.Tyr600Cys)
NM_016111.4(TELO2):c.1803C>T (p.Ala601=)
NM_016111.4(TELO2):c.182C>A (p.Pro61His)
NM_016111.4(TELO2):c.1835T>A (p.Ile612Asn)
NM_016111.4(TELO2):c.1842+17C>T
NM_016111.4(TELO2):c.1842+9C>T
NM_016111.4(TELO2):c.1843-12G>A
NM_016111.4(TELO2):c.1860C>T (p.Ala620=)
NM_016111.4(TELO2):c.1879G>T (p.Gly627Trp)
NM_016111.4(TELO2):c.1881G>A (p.Gly627=)
NM_016111.4(TELO2):c.1888G>A (p.Gly630Arg)
NM_016111.4(TELO2):c.189C>T (p.Leu63=)
NM_016111.4(TELO2):c.1922dup (p.Asn641fs)
NM_016111.4(TELO2):c.1929G>A (p.Pro643=)
NM_016111.4(TELO2):c.1929G>C (p.Pro643=)
NM_016111.4(TELO2):c.1938A>G (p.Pro646=)
NM_016111.4(TELO2):c.1947C>T (p.Ala649=)
NM_016111.4(TELO2):c.1962C>T (p.Gly654=)
NM_016111.4(TELO2):c.1968C>T (p.Ala656=)
NM_016111.4(TELO2):c.1969G>A (p.Val657Met)
NM_016111.4(TELO2):c.1980C>T (p.Asp660=)
NM_016111.4(TELO2):c.19_20delinsAG (p.Glu7Arg)
NM_016111.4(TELO2):c.19_20delinsCG (p.Glu7Arg) rs35400877
NM_016111.4(TELO2):c.1A>T (p.Met1Leu)
NM_016111.4(TELO2):c.2000A>G (p.Glu667Gly)
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
NM_016111.4(TELO2):c.200C>A (p.Ala67Asp)
NM_016111.4(TELO2):c.2034+10G>A
NM_016111.4(TELO2):c.2034+9C>T
NM_016111.4(TELO2):c.2035-18T>A
NM_016111.4(TELO2):c.2035-20G>A
NM_016111.4(TELO2):c.2035-20G>T
NM_016111.4(TELO2):c.2042C>T (p.Pro681Leu)
NM_016111.4(TELO2):c.2043G>A (p.Pro681=)
NM_016111.4(TELO2):c.2054C>T (p.Pro685Leu)
NM_016111.4(TELO2):c.2055G>A (p.Pro685=)
NM_016111.4(TELO2):c.207G>A (p.Arg69=)
NM_016111.4(TELO2):c.2082C>A (p.Ser694=)
NM_016111.4(TELO2):c.2082C>T (p.Ser694=) rs141481758
NM_016111.4(TELO2):c.2088C>T (p.Ala696=)
NM_016111.4(TELO2):c.2089G>A (p.Gly697Ser)
NM_016111.4(TELO2):c.2095TTC[2] (p.Phe701del) rs773432577
NM_016111.4(TELO2):c.2097C>T (p.Phe699=)
NM_016111.4(TELO2):c.2106C>T (p.Pro702=)
NM_016111.4(TELO2):c.2116C>T (p.Arg706Cys)
NM_016111.4(TELO2):c.2121dup (p.Asp708Ter)
NM_016111.4(TELO2):c.2126+15C>T
NM_016111.4(TELO2):c.2126+16G>T
NM_016111.4(TELO2):c.2145C>T (p.Asp715=)
NM_016111.4(TELO2):c.2164C>T (p.Leu722=)
NM_016111.4(TELO2):c.216A>G (p.Pro72=)
NM_016111.4(TELO2):c.2173G>A (p.Gly725Arg)
NM_016111.4(TELO2):c.2184G>A (p.Ala728=)
NM_016111.4(TELO2):c.2199C>A (p.Ala733=)
NM_016111.4(TELO2):c.2209C>T (p.Leu737=)
NM_016111.4(TELO2):c.2211G>A (p.Leu737=)
NM_016111.4(TELO2):c.2214T>A (p.Ala738=)
NM_016111.4(TELO2):c.2226+18G>A
NM_016111.4(TELO2):c.2226+20C>G
NM_016111.4(TELO2):c.2226+20C>T
NM_016111.4(TELO2):c.2226+7C>T
NM_016111.4(TELO2):c.2226+8G>A
NM_016111.4(TELO2):c.2227-16C>G
NM_016111.4(TELO2):c.2227-1G>A
NM_016111.4(TELO2):c.2227-6G>A
NM_016111.4(TELO2):c.2256G>A (p.Leu752=)
NM_016111.4(TELO2):c.2262C>T (p.Phe754=)
NM_016111.4(TELO2):c.2271C>T (p.Ala757=)
NM_016111.4(TELO2):c.2277C>T (p.Arg759=)
NM_016111.4(TELO2):c.2291+16G>C
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016111.4(TELO2):c.2291+1G>C
NM_016111.4(TELO2):c.2291+20G>A
NM_016111.4(TELO2):c.2291+5G>A
NM_016111.4(TELO2):c.2291+7G>A
NM_016111.4(TELO2):c.2291+9C>T
NM_016111.4(TELO2):c.2292-16G>A
NM_016111.4(TELO2):c.2292-17C>T
NM_016111.4(TELO2):c.2299C>T (p.Arg767Cys)
NM_016111.4(TELO2):c.2300G>A (p.Arg767His) rs772152176
NM_016111.4(TELO2):c.2307G>T (p.Gly769=)
NM_016111.4(TELO2):c.2316G>A (p.Ser772=)
NM_016111.4(TELO2):c.232C>T (p.Leu78=)
NM_016111.4(TELO2):c.2331C>G (p.Val777=)
NM_016111.4(TELO2):c.2334G>C (p.Leu778=)
NM_016111.4(TELO2):c.2352G>A (p.Ala784=)
NM_016111.4(TELO2):c.2353C>T (p.Arg785Cys)
NM_016111.4(TELO2):c.2367C>G (p.Asp789Glu)
NM_016111.4(TELO2):c.2377G>A (p.Glu793Lys)
NM_016111.4(TELO2):c.2382G>T (p.Leu794=)
NM_016111.4(TELO2):c.2396C>A (p.Ser799Tyr) rs755695672
NM_016111.4(TELO2):c.2407+16C>T
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.2407+9C>T
NM_016111.4(TELO2):c.2408-10C>T
NM_016111.4(TELO2):c.2408-12C>T
NM_016111.4(TELO2):c.2409C>T (p.Asp803=)
NM_016111.4(TELO2):c.2421A>G (p.Lys807=)
NM_016111.4(TELO2):c.2424C>T (p.Asp808=)
NM_016111.4(TELO2):c.2427G>A (p.Pro809=)
NM_016111.4(TELO2):c.2439C>T (p.Cys813=)
NM_016111.4(TELO2):c.2445G>A (p.Thr815=)
NM_016111.4(TELO2):c.244C>T (p.Arg82Cys)
NM_016111.4(TELO2):c.2487C>T (p.Asn829=)
NM_016111.4(TELO2):c.2493C>T (p.Leu831=)
NM_016111.4(TELO2):c.2501C>T (p.Pro834Leu)
NM_016111.4(TELO2):c.2504C>A (p.Ala835Glu)
NM_016111.4(TELO2):c.2511C>G (p.Pro837=)
NM_016111.4(TELO2):c.274C>T (p.Leu92=)
NM_016111.4(TELO2):c.284C>T (p.Pro95Leu) rs771370067
NM_016111.4(TELO2):c.285G>T (p.Pro95=)
NM_016111.4(TELO2):c.304G>A (p.Val102Met)
NM_016111.4(TELO2):c.31_32delinsAA (p.Ala11Asn) rs2142446269
NM_016111.4(TELO2):c.321C>T (p.Ile107=)
NM_016111.4(TELO2):c.324G>T (p.Glu108Asp)
NM_016111.4(TELO2):c.332C>T (p.Ala111Val)
NM_016111.4(TELO2):c.333G>A (p.Ala111=)
NM_016111.4(TELO2):c.335+15C>T
NM_016111.4(TELO2):c.336-11C>G
NM_016111.4(TELO2):c.336-17C>T
NM_016111.4(TELO2):c.336-18A>T
NM_016111.4(TELO2):c.364C>A (p.Arg122=)
NM_016111.4(TELO2):c.364C>T (p.Arg122Trp)
NM_016111.4(TELO2):c.385C>T (p.Arg129Cys)
NM_016111.4(TELO2):c.387C>G (p.Arg129=)
NM_016111.4(TELO2):c.387C>T (p.Arg129=)
NM_016111.4(TELO2):c.400G>T (p.Ala134Ser)
NM_016111.4(TELO2):c.403G>C (p.Val135Leu)
NM_016111.4(TELO2):c.404T>C (p.Val135Ala)
NM_016111.4(TELO2):c.406C>T (p.Leu136=)
NM_016111.4(TELO2):c.418C>T (p.Gln140Ter)
NM_016111.4(TELO2):c.424C>T (p.Arg142Trp)
NM_016111.4(TELO2):c.431A>G (p.Gln144Arg)
NM_016111.4(TELO2):c.432G>T (p.Gln144His)
NM_016111.4(TELO2):c.436_437inv (p.Gln146Trp)
NM_016111.4(TELO2):c.437_438delinsGC (p.Gln146Arg)
NM_016111.4(TELO2):c.439C>T (p.Pro147Ser)
NM_016111.4(TELO2):c.443_444delinsTT (p.Gly148Val)
NM_016111.4(TELO2):c.456C>T (p.Leu152=)
NM_016111.4(TELO2):c.45C>T (p.Ala15=)
NM_016111.4(TELO2):c.460dup (p.Glu154fs)
NM_016111.4(TELO2):c.465G>A (p.Thr155=)
NM_016111.4(TELO2):c.465G>T (p.Thr155=)
NM_016111.4(TELO2):c.486C>A (p.Ala162=)
NM_016111.4(TELO2):c.497A>G (p.His166Arg)
NM_016111.4(TELO2):c.508C>T (p.Arg170Cys)
NM_016111.4(TELO2):c.510C>T (p.Arg170=)
NM_016111.4(TELO2):c.515A>T (p.Gln172Leu)
NM_016111.4(TELO2):c.531C>T (p.Ala177=)
NM_016111.4(TELO2):c.561del (p.Leu188fs) rs1555469732
NM_016111.4(TELO2):c.567C>G (p.Gly189=)
NM_016111.4(TELO2):c.569_570del (p.Glu190fs)
NM_016111.4(TELO2):c.570G>A (p.Glu190=)
NM_016111.4(TELO2):c.580C>T (p.Arg194Trp)
NM_016111.4(TELO2):c.583G>A (p.Val195Met)
NM_016111.4(TELO2):c.594G>C (p.Ala198=)
NM_016111.4(TELO2):c.595G>T (p.Val199Phe)
NM_016111.4(TELO2):c.598G>T (p.Val200Leu)
NM_016111.4(TELO2):c.607C>T (p.Leu203Phe)
NM_016111.4(TELO2):c.613+16G>A
NM_016111.4(TELO2):c.613+6G>A
NM_016111.4(TELO2):c.613+7C>T
NM_016111.4(TELO2):c.613+9dup
NM_016111.4(TELO2):c.614-15C>G
NM_016111.4(TELO2):c.622G>T (p.Asp208Tyr)
NM_016111.4(TELO2):c.626C>T (p.Ser209Phe)
NM_016111.4(TELO2):c.662C>A (p.Ala221Asp) rs2141023618
NM_016111.4(TELO2):c.681G>C (p.Gln227His)
NM_016111.4(TELO2):c.682+17C>T
NM_016111.4(TELO2):c.683-14G>A
NM_016111.4(TELO2):c.696C>T (p.Gly232=)
NM_016111.4(TELO2):c.698T>A (p.Val233Glu)
NM_016111.4(TELO2):c.720G>A (p.Ala240=)
NM_016111.4(TELO2):c.742_830+600del
NM_016111.4(TELO2):c.768G>A (p.Val256=)
NM_016111.4(TELO2):c.77G>T (p.Gly26Val)
NM_016111.4(TELO2):c.780G>A (p.Pro260=)
NM_016111.4(TELO2):c.785G>A (p.Arg262Gln)
NM_016111.4(TELO2):c.798T>A (p.Ala266=)
NM_016111.4(TELO2):c.807C>T (p.Thr269=)
NM_016111.4(TELO2):c.808G>A (p.Gly270Arg)
NM_016111.4(TELO2):c.810G>C (p.Gly270=)
NM_016111.4(TELO2):c.815T>C (p.Val272Ala)
NM_016111.4(TELO2):c.819G>A (p.Glu273=)
NM_016111.4(TELO2):c.822C>T (p.Ala274=)
NM_016111.4(TELO2):c.827T>C (p.Leu276Pro)
NM_016111.4(TELO2):c.830+18C>T
NM_016111.4(TELO2):c.830+5G>T
NM_016111.4(TELO2):c.831-20C>T
NM_016111.4(TELO2):c.840C>G (p.Val280=)
NM_016111.4(TELO2):c.843T>A (p.Leu281=)
NM_016111.4(TELO2):c.846G>A (p.Ser282=)
NM_016111.4(TELO2):c.857G>T (p.Gly286Val)
NM_016111.4(TELO2):c.860A>G (p.Asn287Ser)
NM_016111.4(TELO2):c.913T>C (p.Phe305Leu)
NM_016111.4(TELO2):c.918A>G (p.Leu306=)
NM_016111.4(TELO2):c.926G>A (p.Arg309Gln)
NM_016111.4(TELO2):c.933+11del rs11344586
NM_016111.4(TELO2):c.933+17G>C
NM_016111.4(TELO2):c.933+9G>A
NM_016111.4(TELO2):c.934-3C>T
NM_016111.4(TELO2):c.934A>G (p.Thr312Ala)
NM_016111.4(TELO2):c.936G>A (p.Thr312=)
NM_016111.4(TELO2):c.958G>A (p.Gly320Ser)
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro) rs750187494
NM_016111.4(TELO2):c.96G>A (p.Leu32=)
NM_016111.4(TELO2):c.986G>A (p.Arg329His)
NM_016111.4(TELO2):c.990G>A (p.Pro330=)
NM_016111.4(TELO2):c.990G>C (p.Pro330=)

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