ClinVar Miner

List of variants in gene SHOC2 studied for RASopathy

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Gene type:
ClinVar version:
Total variants: 349
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_007373.4(SHOC2):c.1162-16T>G rs376859485 0.00052
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr) rs201289608 0.00021
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_007373.4(SHOC2):c.1580A>G (p.Asn527Ser) rs143242369 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala) rs768411950 0.00005
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile) rs759910472 0.00004
NM_007373.4(SHOC2):c.1423-15T>C rs775689426 0.00004
NM_007373.4(SHOC2):c.1541-10T>G rs202207809 0.00004
NM_007373.4(SHOC2):c.1545A>G (p.Thr515=) rs376161380 0.00004
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=) rs370929606 0.00004
NM_007373.4(SHOC2):c.972+11G>T rs201644470 0.00004
NM_007373.4(SHOC2):c.972+8G>C rs748386843 0.00004
NM_007373.4(SHOC2):c.-1C>T rs398124252 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_007373.4(SHOC2):c.849G>A (p.Leu283=) rs200544176 0.00003
NM_007373.4(SHOC2):c.886C>T (p.Leu296=) rs199723694 0.00003
NM_007373.4(SHOC2):c.1164C>T (p.Asp388=) rs544426978 0.00002
NM_007373.4(SHOC2):c.1337A>G (p.Asn446Ser) rs730881017 0.00002
NM_007373.4(SHOC2):c.1452C>G (p.Thr484=) rs774870302 0.00002
NM_007373.4(SHOC2):c.1633A>G (p.Ile545Val) rs778280516 0.00002
NM_007373.4(SHOC2):c.1738G>A (p.Ala580Thr) rs1234368339 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu) rs750480407 0.00002
NM_007373.4(SHOC2):c.618T>G (p.Thr206=) rs772520981 0.00002
NM_007373.4(SHOC2):c.894A>C (p.Ala298=) rs767912952 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_007373.4(SHOC2):c.1033T>C (p.Leu345=) rs1220830387 0.00001
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=) rs199869304 0.00001
NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys) rs779128466 0.00001
NM_007373.4(SHOC2):c.1101C>T (p.Ile367=) rs777877344 0.00001
NM_007373.4(SHOC2):c.1161+5G>T rs375479660 0.00001
NM_007373.4(SHOC2):c.1161+7A>G rs368326616 0.00001
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.1272C>T (p.Leu424=) rs144379168 0.00001
NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile) rs772835258 0.00001
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe) rs730881022 0.00001
NM_007373.4(SHOC2):c.1344G>A (p.Arg448=) rs1309539987 0.00001
NM_007373.4(SHOC2):c.1404A>G (p.Ala468=) rs764705344 0.00001
NM_007373.4(SHOC2):c.1417T>A (p.Leu473Ile) rs767686810 0.00001
NM_007373.4(SHOC2):c.1422+8T>G rs1267333219 0.00001
NM_007373.4(SHOC2):c.1425A>G (p.Lys475=) rs1483409374 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=) rs539117121 0.00001
NM_007373.4(SHOC2):c.1521T>C (p.Thr507=) rs780849465 0.00001
NM_007373.4(SHOC2):c.1540+12G>A rs369850100 0.00001
NM_007373.4(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940 0.00001
NM_007373.4(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.1665C>T (p.His555=) rs1060504382 0.00001
NM_007373.4(SHOC2):c.1682T>C (p.Val561Ala) rs776628753 0.00001
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro) rs754709778 0.00001
NM_007373.4(SHOC2):c.1704C>A (p.Ile568=) rs1219650171 0.00001
NM_007373.4(SHOC2):c.171C>T (p.Ser57=) rs1554857645 0.00001
NM_007373.4(SHOC2):c.1736G>A (p.Arg579His) rs1185910534 0.00001
NM_007373.4(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203 0.00001
NM_007373.4(SHOC2):c.183A>G (p.Gln61=) rs371640183 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_007373.4(SHOC2):c.319T>C (p.Leu107=) rs1847639079 0.00001
NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe) rs149084468 0.00001
NM_007373.4(SHOC2):c.333T>C (p.Ser111=) rs758161464 0.00001
NM_007373.4(SHOC2):c.354A>G (p.Ser118=) rs1302774310 0.00001
NM_007373.4(SHOC2):c.390A>G (p.Leu130=) rs143895483 0.00001
NM_007373.4(SHOC2):c.445A>G (p.Met149Val) rs766550166 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.52G>A (p.Val18Ile) rs1226932309 0.00001
NM_007373.4(SHOC2):c.574G>T (p.Asp192Tyr) rs769457449 0.00001
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala) rs370388274 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_007373.4(SHOC2):c.704-10C>T rs748271956 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe) rs1196924389 0.00001
NM_007373.4(SHOC2):c.769A>G (p.Ile257Val) rs1476197124 0.00001
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr) rs1300537933 0.00001
NM_007373.4(SHOC2):c.841+16G>T rs1228162304 0.00001
NM_007373.4(SHOC2):c.842-3C>T rs1485718634 0.00001
NM_007373.4(SHOC2):c.879T>C (p.Tyr293=) rs773817796 0.00001
NM_007373.4(SHOC2):c.920G>C (p.Ser307Thr) rs1848351785 0.00001
NM_007373.4(SHOC2):c.981A>G (p.Leu327=) rs1440014484 0.00001
NC_000010.10:g.(?_112768986)_(112771576_?)del
NM_007373.4(SHOC2):c.1004G>A (p.Ser335Asn) rs1590835179
NM_007373.4(SHOC2):c.1023T>C (p.Asn341=)
NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)
NM_007373.4(SHOC2):c.1032G>A (p.Gln344=)
NM_007373.4(SHOC2):c.1035G>T (p.Leu345Phe)
NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)
NM_007373.4(SHOC2):c.103G>T (p.Gly35Trp) rs751634012
NM_007373.4(SHOC2):c.1044G>T (p.Val348=)
NM_007373.4(SHOC2):c.1046G>A (p.Gly349Asp) rs1848437298
NM_007373.4(SHOC2):c.1049G>A (p.Gly350Asp)
NM_007373.4(SHOC2):c.1053A>G (p.Pro351=)
NM_007373.4(SHOC2):c.1055C>T (p.Ser352Phe) rs1848437546
NM_007373.4(SHOC2):c.1072T>C (p.Tyr358His)
NM_007373.4(SHOC2):c.107A>G (p.Lys36Arg)
NM_007373.4(SHOC2):c.1092C>T (p.His364=) rs748214044
NM_007373.4(SHOC2):c.1095T>C (p.Asn365=)
NM_007373.4(SHOC2):c.1097G>A (p.Arg366Gln) rs1219277268
NM_007373.4(SHOC2):c.1097G>T (p.Arg366Leu)
NM_007373.4(SHOC2):c.1098A>C (p.Arg366=)
NM_007373.4(SHOC2):c.1103A>G (p.Asn368Ser)
NM_007373.4(SHOC2):c.110A>G (p.Glu37Gly)
NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)
NM_007373.4(SHOC2):c.113G>A (p.Ser38Asn)
NM_007373.4(SHOC2):c.1152G>A (p.Leu384=)
NM_007373.4(SHOC2):c.1161+15G>C
NM_007373.4(SHOC2):c.1161+4A>G
NM_007373.4(SHOC2):c.1161+6C>T
NM_007373.4(SHOC2):c.1161+9A>C rs201795589
NM_007373.4(SHOC2):c.1162-13T>C
NM_007373.4(SHOC2):c.1162-15T>C
NM_007373.4(SHOC2):c.1162-18T>G
NM_007373.4(SHOC2):c.1162-19T>G
NM_007373.4(SHOC2):c.1162-4C>T
NM_007373.4(SHOC2):c.1162-5G>T
NM_007373.4(SHOC2):c.1164C>A (p.Asp388Glu)
NM_007373.4(SHOC2):c.1166A>G (p.Asn389Ser) rs2134177725
NM_007373.4(SHOC2):c.1176A>G (p.Thr392=)
NM_007373.4(SHOC2):c.1179A>G (p.Ser393=)
NM_007373.4(SHOC2):c.1185C>T (p.Pro395=) rs369036204
NM_007373.4(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.4(SHOC2):c.1208G>C (p.Ser403Thr) rs1487427017
NM_007373.4(SHOC2):c.1213G>C (p.Val405Leu)
NM_007373.4(SHOC2):c.1219T>C (p.Leu407=)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.1254T>C (p.Pro418=)
NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp)
NM_007373.4(SHOC2):c.1272C>A (p.Leu424=) rs144379168
NM_007373.4(SHOC2):c.1281T>C (p.Leu427=)
NM_007373.4(SHOC2):c.1284+12T>C rs147007474
NM_007373.4(SHOC2):c.1284+17A>T
NM_007373.4(SHOC2):c.1285-18T>C
NM_007373.4(SHOC2):c.1285-20_1285-18del rs781425507
NM_007373.4(SHOC2):c.1285-5A>C
NM_007373.4(SHOC2):c.1290T>C (p.Leu430=)
NM_007373.4(SHOC2):c.1292T>C (p.Ile431Thr)
NM_007373.4(SHOC2):c.1297T>C (p.Ser433Pro)
NM_007373.4(SHOC2):c.129T>C (p.Pro43=)
NM_007373.4(SHOC2):c.1300A>G (p.Asn434Asp)
NM_007373.4(SHOC2):c.130A>G (p.Lys44Glu)
NM_007373.4(SHOC2):c.1324C>G (p.His442Asp)
NM_007373.4(SHOC2):c.1325A>T (p.His442Leu)
NM_007373.4(SHOC2):c.1334G>A (p.Gly445Glu)
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
NM_007373.4(SHOC2):c.1347G>A (p.Lys449=)
NM_007373.4(SHOC2):c.134C>G (p.Thr45Ser)
NM_007373.4(SHOC2):c.1356G>C (p.Glu452Asp) rs1047190791
NM_007373.4(SHOC2):c.1407T>C (p.Tyr469=)
NM_007373.4(SHOC2):c.1422+11T>G
NM_007373.4(SHOC2):c.1422+15G>T
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.1423-18A>G rs1228751828
NM_007373.4(SHOC2):c.1434G>C (p.Leu478Phe)
NM_007373.4(SHOC2):c.1435A>T (p.Thr479Ser)
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)
NM_007373.4(SHOC2):c.1461C>A (p.Pro487=) rs2134180702
NM_007373.4(SHOC2):c.1468A>G (p.Ile490Val)
NM_007373.4(SHOC2):c.1474C>A (p.His492Asn)
NM_007373.4(SHOC2):c.1480A>G (p.Thr494Ala) rs1188545694
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn) rs758241851
NM_007373.4(SHOC2):c.1482dup (p.Asn495Ter)
NM_007373.4(SHOC2):c.1485T>C (p.Asn495=)
NM_007373.4(SHOC2):c.1490C>G (p.Thr497Arg)
NM_007373.4(SHOC2):c.1503T>C (p.Leu501=)
NM_007373.4(SHOC2):c.1515A>G (p.Leu505=)
NM_007373.4(SHOC2):c.1518T>G (p.Leu506=)
NM_007373.4(SHOC2):c.1520C>T (p.Thr507Ile) rs2134180790
NM_007373.4(SHOC2):c.1539T>C (p.Ile513=)
NM_007373.4(SHOC2):c.1540+18G>A
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.1540+9C>T
NM_007373.4(SHOC2):c.1541-18G>C
NM_007373.4(SHOC2):c.1541-19T>G
NM_007373.4(SHOC2):c.1541-20T>A
NM_007373.4(SHOC2):c.1541-6A>C
NM_007373.4(SHOC2):c.1541-6A>G
NM_007373.4(SHOC2):c.1541-7T>A rs1564732053
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_007373.4(SHOC2):c.154G>T (p.Asp52Tyr)
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val) rs2134182984
NM_007373.4(SHOC2):c.1557A>G (p.Leu519=)
NM_007373.4(SHOC2):c.1566G>C (p.Leu522=)
NM_007373.4(SHOC2):c.1580A>T (p.Asn527Ile)
NM_007373.4(SHOC2):c.1582C>G (p.Pro528Ala) rs869025524
NM_007373.4(SHOC2):c.1582C>T (p.Pro528Ser) rs869025524
NM_007373.4(SHOC2):c.1592A>G (p.His531Arg) rs1848567648
NM_007373.4(SHOC2):c.1602C>G (p.Pro534=)
NM_007373.4(SHOC2):c.1608G>A (p.Glu536=) rs2134183063
NM_007373.4(SHOC2):c.1614A>G (p.Ala538=)
NM_007373.4(SHOC2):c.1625A>G (p.Lys542Arg)
NM_007373.4(SHOC2):c.1627C>T (p.Leu543Phe) rs1446237590
NM_007373.4(SHOC2):c.1637T>G (p.Met546Arg) rs2134183100
NM_007373.4(SHOC2):c.1656A>C (p.Pro552=) rs2134183125
NM_007373.4(SHOC2):c.1669C>T (p.Pro557Ser) rs761448239
NM_007373.4(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.4(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.4(SHOC2):c.1692G>A (p.Gly564=) rs2134183184
NM_007373.4(SHOC2):c.1692dup (p.Pro565fs)
NM_007373.4(SHOC2):c.1693C>A (p.Pro565Thr)
NM_007373.4(SHOC2):c.1695T>A (p.Pro565=)
NM_007373.4(SHOC2):c.16G>C (p.Gly6Arg)
NM_007373.4(SHOC2):c.1703T>C (p.Ile568Thr)
NM_007373.4(SHOC2):c.1726G>A (p.Gly576Ser) rs1848570319
NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.1743G>A (p.Met581Ile)
NM_007373.4(SHOC2):c.1749A>C (p.Ter583Cys)
NM_007373.4(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.4(SHOC2):c.183A>T (p.Gln61His)
NM_007373.4(SHOC2):c.186A>C (p.Pro62=)
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.192G>A (p.Val64=) rs1185076769
NM_007373.4(SHOC2):c.210T>C (p.Asn70=)
NM_007373.4(SHOC2):c.212C>T (p.Thr71Met)
NM_007373.4(SHOC2):c.213G>A (p.Thr71=)
NM_007373.4(SHOC2):c.22G>C (p.Glu8Gln)
NM_007373.4(SHOC2):c.236C>G (p.Pro79Arg)
NM_007373.4(SHOC2):c.238G>A (p.Gly80Arg) rs1847637531
NM_007373.4(SHOC2):c.240G>T (p.Gly80=) rs2134121303
NM_007373.4(SHOC2):c.242C>T (p.Thr81Ile) rs1359743107
NM_007373.4(SHOC2):c.254C>T (p.Ser85Phe) rs1847637817
NM_007373.4(SHOC2):c.258C>A (p.Ser86Arg)
NM_007373.4(SHOC2):c.261T>C (p.Asn87=)
NM_007373.4(SHOC2):c.263C>G (p.Ala88Gly)
NM_007373.4(SHOC2):c.270G>A (p.Val90=)
NM_007373.4(SHOC2):c.27A>G (p.Lys9=)
NM_007373.4(SHOC2):c.28G>T (p.Asp10Tyr)
NM_007373.4(SHOC2):c.31T>C (p.Ser11Pro)
NM_007373.4(SHOC2):c.321A>C (p.Leu107Phe)
NM_007373.4(SHOC2):c.326A>G (p.Lys109Arg) rs2134121410
NM_007373.4(SHOC2):c.332C>G (p.Ser111Cys) rs149084468
NM_007373.4(SHOC2):c.334A>G (p.Ile112Val) rs1418386730
NM_007373.4(SHOC2):c.338A>G (p.His113Arg)
NM_007373.4(SHOC2):c.342A>G (p.Ile114Met) rs2134121467
NM_007373.4(SHOC2):c.348A>G (p.Pro116=)
NM_007373.4(SHOC2):c.351A>C (p.Ser117=) rs1847640105
NM_007373.4(SHOC2):c.364T>C (p.Leu122=)
NM_007373.4(SHOC2):c.408G>A (p.Gln136=)
NM_007373.4(SHOC2):c.423G>A (p.Glu141=) rs1847641416
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly) rs768053004
NM_007373.4(SHOC2):c.441T>C (p.Asn147=) rs2134121592
NM_007373.4(SHOC2):c.450A>G (p.Thr150=)
NM_007373.4(SHOC2):c.451C>T (p.Leu151=)
NM_007373.4(SHOC2):c.459A>G (p.Leu153=)
NM_007373.4(SHOC2):c.468T>C (p.Asn156=)
NM_007373.4(SHOC2):c.471A>G (p.Ser157=)
NM_007373.4(SHOC2):c.476C>A (p.Thr159Asn) rs758157906
NM_007373.4(SHOC2):c.47C>G (p.Pro16Arg)
NM_007373.4(SHOC2):c.489C>T (p.Asp163=)
NM_007373.4(SHOC2):c.506A>G (p.Lys169Arg) rs2134121699
NM_007373.4(SHOC2):c.511C>A (p.Leu171Met) rs1847643199
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_007373.4(SHOC2):c.515G>A (p.Arg172Gln)
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.519G>C (p.Met173Ile)
NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)
NM_007373.4(SHOC2):c.527T>C (p.Leu176Ser) rs2134121776
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.562G>A (p.Val188Met)
NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe) rs1847644218
NM_007373.4(SHOC2):c.568A>G (p.Arg190Gly)
NM_007373.4(SHOC2):c.569G>A (p.Arg190Lys)
NM_007373.4(SHOC2):c.580C>T (p.Leu194Phe)
NM_007373.4(SHOC2):c.584C>T (p.Thr195Ile)
NM_007373.4(SHOC2):c.591T>C (p.Leu197=)
NM_007373.4(SHOC2):c.600C>G (p.Arg200=) rs1188255409
NM_007373.4(SHOC2):c.612A>G (p.Ile204Met)
NM_007373.4(SHOC2):c.633C>G (p.Ile211Met)
NM_007373.4(SHOC2):c.636A>G (p.Lys212=)
NM_007373.4(SHOC2):c.644C>G (p.Ser215Ter)
NM_007373.4(SHOC2):c.645A>G (p.Ser215=) rs2134121976
NM_007373.4(SHOC2):c.647A>T (p.Lys216Ile)
NM_007373.4(SHOC2):c.660T>C (p.Leu220=) rs1342653646
NM_007373.4(SHOC2):c.663C>T (p.Ser221=)
NM_007373.4(SHOC2):c.685C>A (p.Gln229Lys)
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.703+15ATT[5]
NM_007373.4(SHOC2):c.703+17T>G
NM_007373.4(SHOC2):c.703+8G>A
NM_007373.4(SHOC2):c.711A>G (p.Leu237=)
NM_007373.4(SHOC2):c.713G>A (p.Cys238Tyr)
NM_007373.4(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.4(SHOC2):c.720C>A (p.Leu240=) rs759714493
NM_007373.4(SHOC2):c.721A>G (p.Ile241Val)
NM_007373.4(SHOC2):c.726G>A (p.Thr242=)
NM_007373.4(SHOC2):c.726G>T (p.Thr242=)
NM_007373.4(SHOC2):c.741C>T (p.His247=) rs1264093977
NM_007373.4(SHOC2):c.769A>T (p.Ile257Phe)
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)
NM_007373.4(SHOC2):c.786G>A (p.Gln262=)
NM_007373.4(SHOC2):c.794A>C (p.Asn265Thr)
NM_007373.4(SHOC2):c.794A>G (p.Asn265Ser)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_007373.4(SHOC2):c.801C>T (p.Asp267=)
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_007373.4(SHOC2):c.815A>T (p.Glu272Val) rs2134149258
NM_007373.4(SHOC2):c.825C>T (p.Asp275=)
NM_007373.4(SHOC2):c.826C>T (p.Leu276Phe)
NM_007373.4(SHOC2):c.841+13A>G rs1848065425
NM_007373.4(SHOC2):c.841+20A>G
NM_007373.4(SHOC2):c.841+7G>A rs2134149305
NM_007373.4(SHOC2):c.842-16T>G
NM_007373.4(SHOC2):c.842-16_842-15insG
NM_007373.4(SHOC2):c.842-20T>G rs2134168524
NM_007373.4(SHOC2):c.843A>T (p.Gly281=)
NM_007373.4(SHOC2):c.84A>C (p.Ala28=) rs753165612
NM_007373.4(SHOC2):c.862C>T (p.Arg288Cys)
NM_007373.4(SHOC2):c.873G>A (p.Leu291=)
NM_007373.4(SHOC2):c.888G>C (p.Leu296=) rs2134168611
NM_007373.4(SHOC2):c.88G>A (p.Ala30Thr)
NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)
NM_007373.4(SHOC2):c.90C>T (p.Ala30=)
NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)
NM_007373.4(SHOC2):c.912A>G (p.Ala304=) rs2134168641
NM_007373.4(SHOC2):c.919A>G (p.Ser307Gly)
NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
NM_007373.4(SHOC2):c.927T>C (p.Leu309=)
NM_007373.4(SHOC2):c.937A>C (p.Asn313His)
NM_007373.4(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_007373.4(SHOC2):c.951T>C (p.Asn317=)
NM_007373.4(SHOC2):c.972+11del
NM_007373.4(SHOC2):c.972+12A>G rs913524232
NM_007373.4(SHOC2):c.972+16G>A
NM_007373.4(SHOC2):c.972+19A>G
NM_007373.4(SHOC2):c.973-3_973-2del
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_007373.4(SHOC2):c.973-5dup rs730881016
NM_007373.4(SHOC2):c.974G>A (p.Ser325Asn)
NM_007373.4(SHOC2):c.979T>C (p.Leu327=) rs1239801718

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