ClinVar Miner

List of variants reported as likely benign for Carnitine palmitoyltransferase II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 409
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.2(CPT2):c.-477C>T rs7545725 0.00978
NM_017887.3(CZIB):c.*457C>A rs14829 0.00852
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) rs142790440 0.00143
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) rs147276580 0.00085
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000098.3(CPT2):c.218A>G (p.Asn73Ser) rs146159244 0.00016
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000098.3(CPT2):c.1428G>A (p.Leu476=) rs149557870 0.00011
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.1251C>T (p.Phe417=) rs576822710 0.00010
NM_000098.3(CPT2):c.1738G>A (p.Gly580Arg) rs569609298 0.00009
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000098.3(CPT2):c.1497T>C (p.Thr499=) rs766629203 0.00006
NM_000098.3(CPT2):c.1674T>G (p.Ala558=) rs141814677 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.201A>C (p.Ala67=) rs747516495 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.1839G>T (p.Gly613=) rs755060321 0.00005
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000098.3(CPT2):c.387G>C (p.Leu129=) rs777514571 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000098.3(CPT2):c.72C>T (p.Pro24=) rs926538202 0.00004
NM_000098.3(CPT2):c.801G>A (p.Ser267=) rs762195160 0.00004
NM_000098.3(CPT2):c.1032T>C (p.His344=) rs747352901 0.00003
NM_000098.3(CPT2):c.103C>T (p.Leu35=) rs2929073 0.00003
NM_000098.3(CPT2):c.333C>T (p.Tyr111=) rs372313619 0.00003
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000098.3(CPT2):c.870C>T (p.Tyr290=) rs202145705 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000098.3(CPT2):c.1047C>T (p.Asn349=) rs148512862 0.00002
NM_000098.3(CPT2):c.1263T>C (p.Asp421=) rs749714778 0.00002
NM_000098.3(CPT2):c.1392C>T (p.Asp464=) rs201681645 0.00002
NM_000098.3(CPT2):c.1878T>C (p.Ser626=) rs761631943 0.00002
NM_000098.3(CPT2):c.340+10C>G rs781682674 0.00002
NM_000098.3(CPT2):c.627G>A (p.Ala209=) rs774374525 0.00002
NM_000098.3(CPT2):c.873G>A (p.Leu291=) rs1459404490 0.00002
NM_000098.3(CPT2):c.960G>A (p.Ser320=) rs569273347 0.00002
NM_000098.3(CPT2):c.975C>G (p.Leu325=) rs757247552 0.00002
NM_000098.3(CPT2):c.1005T>C (p.Leu335=) rs554776730 0.00001
NM_000098.3(CPT2):c.108G>A (p.Gln36=) rs773734918 0.00001
NM_000098.3(CPT2):c.1116C>T (p.His372=) rs761347926 0.00001
NM_000098.3(CPT2):c.1143C>G (p.Leu381=) rs369847007 0.00001
NM_000098.3(CPT2):c.1188C>T (p.Ala396=) rs767826599 0.00001
NM_000098.3(CPT2):c.1215C>T (p.Thr405=) rs1208165579 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1236G>A (p.Val412=) rs544400632 0.00001
NM_000098.3(CPT2):c.1255C>T (p.Leu419=) rs767852112 0.00001
NM_000098.3(CPT2):c.1284A>T (p.Thr428=) rs187044944 0.00001
NM_000098.3(CPT2):c.1290T>C (p.Ala430=) rs776488578 0.00001
NM_000098.3(CPT2):c.1329T>C (p.Ile443=) rs767699548 0.00001
NM_000098.3(CPT2):c.135C>T (p.Tyr45=) rs1645327989 0.00001
NM_000098.3(CPT2):c.1389T>C (p.Pro463=) rs1160807210 0.00001
NM_000098.3(CPT2):c.1458C>T (p.Tyr486=) rs201241649 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.1488C>T (p.His496=) rs139321501 0.00001
NM_000098.3(CPT2):c.152+7C>T rs1442160283 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.1557G>A (p.Glu519=) rs1293579592 0.00001
NM_000098.3(CPT2):c.159T>C (p.Pro53=) rs1319637411 0.00001
NM_000098.3(CPT2):c.1646-13T>C rs547147723 0.00001
NM_000098.3(CPT2):c.1723C>T (p.Leu575=) rs1475193715 0.00001
NM_000098.3(CPT2):c.1740G>A (p.Gly580=) rs371443614 0.00001
NM_000098.3(CPT2):c.1751A>G (p.His584Arg) rs750604350 0.00001
NM_000098.3(CPT2):c.1755T>C (p.Asn585=) rs1645442430 0.00001
NM_000098.3(CPT2):c.1779C>T (p.Ser593=) rs748484701 0.00001
NM_000098.3(CPT2):c.1815G>A (p.Val605=) rs761604642 0.00001
NM_000098.3(CPT2):c.1836T>C (p.Val612=) rs1248709957 0.00001
NM_000098.3(CPT2):c.1857C>T (p.Asn619=) rs769535056 0.00001
NM_000098.3(CPT2):c.222T>C (p.Asp74=) rs1360477206 0.00001
NM_000098.3(CPT2):c.234-7G>A rs1260976720 0.00001
NM_000098.3(CPT2):c.249T>C (p.Phe83=) rs767339394 0.00001
NM_000098.3(CPT2):c.267T>C (p.Asn89=) rs768408574 0.00001
NM_000098.3(CPT2):c.270G>A (p.Gly90=) rs1436061126 0.00001
NM_000098.3(CPT2):c.324T>C (p.His108=) rs764943289 0.00001
NM_000098.3(CPT2):c.33C>T (p.Pro11=) rs1173716908 0.00001
NM_000098.3(CPT2):c.340+7A>G rs757312595 0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=) rs1350688021 0.00001
NM_000098.3(CPT2):c.372A>G (p.Arg124=) rs200301403 0.00001
NM_000098.3(CPT2):c.378C>T (p.Ser126=) rs780743357 0.00001
NM_000098.3(CPT2):c.393T>C (p.Phe131=) rs569391696 0.00001
NM_000098.3(CPT2):c.39C>A (p.Gly13=) rs1279681106 0.00001
NM_000098.3(CPT2):c.42C>T (p.Pro14=) rs570576290 0.00001
NM_000098.3(CPT2):c.468T>C (p.Thr156=) rs138938770 0.00001
NM_000098.3(CPT2):c.504T>C (p.Ala168=) rs1178731855 0.00001
NM_000098.3(CPT2):c.561C>T (p.Thr187=) rs767592132 0.00001
NM_000098.3(CPT2):c.634C>T (p.Leu212=) rs747845465 0.00001
NM_000098.3(CPT2):c.636G>T (p.Leu212=) rs973697337 0.00001
NM_000098.3(CPT2):c.69G>T (p.Arg23=) rs1353591461 0.00001
NM_000098.3(CPT2):c.759C>T (p.Ile253=) rs746853000 0.00001
NM_000098.3(CPT2):c.813A>G (p.Ala271=) rs561154406 0.00001
NM_000098.3(CPT2):c.843C>T (p.Ser281=) rs190459228 0.00001
NM_000098.3(CPT2):c.849C>T (p.Ala283=) rs1361146199 0.00001
NM_000098.3(CPT2):c.876C>T (p.Thr292=) rs1179793805 0.00001
NM_000098.3(CPT2):c.936G>A (p.Glu312=) rs750820184 0.00001
NM_000098.3(CPT2):c.93C>T (p.Pro31=) rs1056264696 0.00001
NM_000098.3(CPT2):c.957C>T (p.Asp319=) rs1645417627 0.00001
NM_000098.3(CPT2):c.963A>C (p.Ala321=) rs1438452698 0.00001
NM_000098.2(CPT2):c.-242G>A rs548768045
NM_000098.3(CPT2):c.1008C>T (p.Val336=)
NM_000098.3(CPT2):c.1011C>T (p.His337=) rs1024639640
NM_000098.3(CPT2):c.1014G>A (p.Leu338=) rs2100273298
NM_000098.3(CPT2):c.1020C>T (p.His340=) rs866307911
NM_000098.3(CPT2):c.1029G>A (p.Leu343=)
NM_000098.3(CPT2):c.102C>T (p.Tyr34=) rs1317793581
NM_000098.3(CPT2):c.1035G>A (p.Gly345=)
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.1059T>C (p.Asp353=)
NM_000098.3(CPT2):c.1071C>T (p.Asn357=)
NM_000098.3(CPT2):c.1074C>T (p.Leu358=)
NM_000098.3(CPT2):c.1077T>C (p.Ile359=) rs2100273464
NM_000098.3(CPT2):c.1080C>T (p.Ile360=) rs749833236
NM_000098.3(CPT2):c.1089T>C (p.Asp363=)
NM_000098.3(CPT2):c.1092C>T (p.Gly364=)
NM_000098.3(CPT2):c.1101C>T (p.Ala367=)
NM_000098.3(CPT2):c.1104C>G (p.Val368=)
NM_000098.3(CPT2):c.1119T>C (p.Ser373=)
NM_000098.3(CPT2):c.111C>G (p.Arg37=) rs1557712092
NM_000098.3(CPT2):c.1128T>C (p.Asp376=)
NM_000098.3(CPT2):c.1134G>T (p.Val378=)
NM_000098.3(CPT2):c.1137A>G (p.Ala379=) rs760514258
NM_000098.3(CPT2):c.1170C>T (p.Asp390=) rs2100273724
NM_000098.3(CPT2):c.1188C>G (p.Ala396=)
NM_000098.3(CPT2):c.1191C>T (p.Val397=) rs1321099565
NM_000098.3(CPT2):c.1200G>A (p.Gln400=) rs2100273793
NM_000098.3(CPT2):c.1203C>T (p.Ser401=) rs1179659900
NM_000098.3(CPT2):c.1206G>A (p.Gln402=) rs2100273808
NM_000098.3(CPT2):c.1212T>A (p.Ala404=)
NM_000098.3(CPT2):c.1227T>C (p.Thr409=) rs1279325407
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu) rs575447822
NM_000098.3(CPT2):c.123C>A (p.Pro41=) rs898278662
NM_000098.3(CPT2):c.1242A>G (p.Lys414=) rs763073192
NM_000098.3(CPT2):c.1245C>G (p.Leu415=)
NM_000098.3(CPT2):c.1248C>T (p.Asn416=)
NM_000098.3(CPT2):c.1257G>A (p.Leu419=) rs2100273948
NM_000098.3(CPT2):c.1269A>G (p.Leu423=)
NM_000098.3(CPT2):c.126C>T (p.Thr42=)
NM_000098.3(CPT2):c.1272G>A (p.Lys424=)
NM_000098.3(CPT2):c.1278C>G (p.Gly426=)
NM_000098.3(CPT2):c.1278C>T (p.Gly426=)
NM_000098.3(CPT2):c.1284A>G (p.Thr428=)
NM_000098.3(CPT2):c.1299G>A (p.Lys433=)
NM_000098.3(CPT2):c.1323C>T (p.Leu441=)
NM_000098.3(CPT2):c.1326T>A (p.Thr442=)
NM_000098.3(CPT2):c.1326T>C (p.Thr442=) rs1572385629
NM_000098.3(CPT2):c.1341G>A (p.Gln447=) rs767030994
NM_000098.3(CPT2):c.1350A>G (p.Arg450=)
NM_000098.3(CPT2):c.1353A>C (p.Gly451=)
NM_000098.3(CPT2):c.1362A>G (p.Glu454=)
NM_000098.3(CPT2):c.1368G>A (p.Leu456=)
NM_000098.3(CPT2):c.1368G>T (p.Leu456=) rs746683786
NM_000098.3(CPT2):c.1380G>A (p.Lys460=)
NM_000098.3(CPT2):c.1381C>T (p.Leu461=)
NM_000098.3(CPT2):c.1383G>A (p.Leu461=) rs779999942
NM_000098.3(CPT2):c.1383G>T (p.Leu461=)
NM_000098.3(CPT2):c.1386C>T (p.Ser462=)
NM_000098.3(CPT2):c.1401C>G (p.Ala467=) rs1645423595
NM_000098.3(CPT2):c.1401C>T (p.Ala467=)
NM_000098.3(CPT2):c.1416G>A (p.Gln472=)
NM_000098.3(CPT2):c.1434G>A (p.Gln478=)
NM_000098.3(CPT2):c.1437C>T (p.Tyr479=) rs370157946
NM_000098.3(CPT2):c.144C>T (p.Ser48=)
NM_000098.3(CPT2):c.1464C>A (p.Ser488=)
NM_000098.3(CPT2):c.1470C>T (p.Ser490=) rs2100274512
NM_000098.3(CPT2):c.147G>A (p.Leu49=) rs1645328186
NM_000098.3(CPT2):c.1485G>A (p.Lys495=)
NM_000098.3(CPT2):c.1491C>T (p.Gly497=)
NM_000098.3(CPT2):c.1497T>G (p.Thr499=) rs766629203
NM_000098.3(CPT2):c.1503C>G (p.Thr501=) rs2100274612
NM_000098.3(CPT2):c.1506C>T (p.Ile502=) rs1264962948
NM_000098.3(CPT2):c.1509C>T (p.Arg503=) rs1572385867
NM_000098.3(CPT2):c.1512G>A (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1515C>T (p.Ala505=) rs2100274663
NM_000098.3(CPT2):c.152+12C>T
NM_000098.3(CPT2):c.152+13T>C rs2100255165
NM_000098.3(CPT2):c.152+15C>T
NM_000098.3(CPT2):c.1521C>A (p.Val507=)
NM_000098.3(CPT2):c.1524T>C (p.Tyr508=)
NM_000098.3(CPT2):c.1527A>G (p.Thr509=)
NM_000098.3(CPT2):c.153-11T>C
NM_000098.3(CPT2):c.153-4C>G rs2100259763
NM_000098.3(CPT2):c.153-5C>T
NM_000098.3(CPT2):c.1531A>C (p.Arg511=) rs1388956797
NM_000098.3(CPT2):c.1548T>C (p.Phe516=) rs2100274748
NM_000098.3(CPT2):c.1566G>A (p.Arg522=)
NM_000098.3(CPT2):c.1581G>A (p.Glu527=) rs2100274829
NM_000098.3(CPT2):c.1590G>A (p.Gln530=)
NM_000098.3(CPT2):c.15G>A (p.Leu5=)
NM_000098.3(CPT2):c.15G>C (p.Leu5=) rs1443908294
NM_000098.3(CPT2):c.1611G>A (p.Lys537=)
NM_000098.3(CPT2):c.1614C>T (p.Tyr538=)
NM_000098.3(CPT2):c.1624C>T (p.Leu542=)
NM_000098.3(CPT2):c.1641A>T (p.Ala547=) rs1572386023
NM_000098.3(CPT2):c.1645+10G>A rs2100274966
NM_000098.3(CPT2):c.1645+12G>T
NM_000098.3(CPT2):c.1645+14G>T rs2100274977
NM_000098.3(CPT2):c.1645+20C>T rs574640455
NM_000098.3(CPT2):c.1645+6dup
NM_000098.3(CPT2):c.1646-14T>C
NM_000098.3(CPT2):c.1646-4A>G
NM_000098.3(CPT2):c.1646-7C>A
NM_000098.3(CPT2):c.1646-9T>C
NM_000098.3(CPT2):c.1646-9T>G rs375793186
NM_000098.3(CPT2):c.1650G>A (p.Gln550=) rs2100278235
NM_000098.3(CPT2):c.165C>A (p.Pro55=)
NM_000098.3(CPT2):c.1662A>G (p.Arg554=)
NM_000098.3(CPT2):c.1671T>C (p.Phe557=)
NM_000098.3(CPT2):c.1677G>A (p.Leu559=) rs2100278311
NM_000098.3(CPT2):c.1701G>A (p.Gly567=)
NM_000098.3(CPT2):c.1713T>C (p.Pro571=) rs1232941559
NM_000098.3(CPT2):c.1722C>T (p.Tyr574=)
NM_000098.3(CPT2):c.1749C>T (p.Asn583=)
NM_000098.3(CPT2):c.174A>G (p.Glu58=)
NM_000098.3(CPT2):c.1773A>T (p.Thr591=)
NM_000098.3(CPT2):c.177C>T (p.Asp59=) rs755209043
NM_000098.3(CPT2):c.1788A>C (p.Ala596=)
NM_000098.3(CPT2):c.1791G>A (p.Val597=) rs759101149
NM_000098.3(CPT2):c.1797T>C (p.Leu599=) rs1198321504
NM_000098.3(CPT2):c.1800G>A (p.Gly600=) rs762584123
NM_000098.3(CPT2):c.1800G>C (p.Gly600=)
NM_000098.3(CPT2):c.1800G>T (p.Gly600=)
NM_000098.3(CPT2):c.180C>T (p.Thr60=)
NM_000098.3(CPT2):c.1812T>C (p.Pro604=) rs1572387377
NM_000098.3(CPT2):c.1830T>C (p.Phe610=) rs2100278821
NM_000098.3(CPT2):c.1839G>C (p.Gly613=) rs755060321
NM_000098.3(CPT2):c.1842T>C (p.Tyr614=) rs748596204
NM_000098.3(CPT2):c.1854C>T (p.Asp618=) rs1572387455
NM_000098.3(CPT2):c.1869C>T (p.Cys623=)
NM_000098.3(CPT2):c.1872T>C (p.Asn624=) rs759970188
NM_000098.3(CPT2):c.1878T>A (p.Ser626=) rs761631943
NM_000098.3(CPT2):c.1878T>G (p.Ser626=)
NM_000098.3(CPT2):c.1884C>T (p.Tyr628=) rs901767832
NM_000098.3(CPT2):c.1896T>C (p.Asn632=) rs2100279059
NM_000098.3(CPT2):c.1902G>A (p.Arg634=)
NM_000098.3(CPT2):c.1902G>C (p.Arg634=)
NM_000098.3(CPT2):c.1905G>A (p.Glu635=)
NM_000098.3(CPT2):c.1938_1939inv (p.Met647Val)
NM_000098.3(CPT2):c.1944T>C (p.Phe648=)
NM_000098.3(CPT2):c.1953A>G (p.Leu651=) rs1645445614
NM_000098.3(CPT2):c.1965C>T (p.Ser655=) rs2100279335
NM_000098.3(CPT2):c.1977A>G (p.Ter659=) rs1203658716
NM_000098.3(CPT2):c.204G>A (p.Gln68=) rs777038982
NM_000098.3(CPT2):c.213C>G (p.Leu71=)
NM_000098.3(CPT2):c.21G>T (p.Leu7=)
NM_000098.3(CPT2):c.233+13A>G
NM_000098.3(CPT2):c.233+15C>A
NM_000098.3(CPT2):c.233+17T>C
NM_000098.3(CPT2):c.233+18T>G
NM_000098.3(CPT2):c.233+20G>A
NM_000098.3(CPT2):c.233+7A>G
NM_000098.3(CPT2):c.233+9T>C
NM_000098.3(CPT2):c.234-13T>A
NM_000098.3(CPT2):c.234-16T>G
NM_000098.3(CPT2):c.234-21_234-17del
NM_000098.3(CPT2):c.234-6T>C
NM_000098.3(CPT2):c.234-7G>C rs1260976720
NM_000098.3(CPT2):c.240A>T (p.Thr80=)
NM_000098.3(CPT2):c.246A>G (p.Gln82=) rs761554630
NM_000098.3(CPT2):c.283C>T (p.Leu95=) rs2100261844
NM_000098.3(CPT2):c.285G>T (p.Leu95=)
NM_000098.3(CPT2):c.297G>C (p.Leu99=)
NM_000098.3(CPT2):c.33C>G (p.Pro11=) rs1173716908
NM_000098.3(CPT2):c.340+16dup
NM_000098.3(CPT2):c.340+17G>A
NM_000098.3(CPT2):c.340+18T>A rs1553169114
NM_000098.3(CPT2):c.340+18T>C rs1553169114
NM_000098.3(CPT2):c.340+20G>A rs369737473
NM_000098.3(CPT2):c.340+20G>T rs369737473
NM_000098.3(CPT2):c.340+8G>A rs2100261977
NM_000098.3(CPT2):c.340+9G>C rs1397812019
NM_000098.3(CPT2):c.340+9G>T
NM_000098.3(CPT2):c.341-17T>C
NM_000098.3(CPT2):c.341-4T>G rs2100271534
NM_000098.3(CPT2):c.341-8T>A rs2100271523
NM_000098.3(CPT2):c.341-8T>C
NM_000098.3(CPT2):c.341-9A>C rs759390063
NM_000098.3(CPT2):c.341-9del rs2100271518
NM_000098.3(CPT2):c.345C>A (p.Pro115=)
NM_000098.3(CPT2):c.345C>G (p.Pro115=)
NM_000098.3(CPT2):c.354T>C (p.Asp118=) rs2100271574
NM_000098.3(CPT2):c.363A>G (p.Leu121=)
NM_000098.3(CPT2):c.366T>C (p.Ser122=)
NM_000098.3(CPT2):c.372A>C (p.Arg124=) rs200301403
NM_000098.3(CPT2):c.378C>A (p.Ser126=) rs780743357
NM_000098.3(CPT2):c.399A>T (p.Pro133=) rs375573986
NM_000098.3(CPT2):c.42C>G (p.Pro14=) rs570576290
NM_000098.3(CPT2):c.432G>A (p.Glu144=)
NM_000098.3(CPT2):c.441C>T (p.Asp147=) rs2100271790
NM_000098.3(CPT2):c.444G>A (p.Gln148=)
NM_000098.3(CPT2):c.447C>T (p.Leu149=)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.451C>A (p.Arg151=) rs200080591
NM_000098.3(CPT2):c.453G>A (p.Arg151=) rs2100271828
NM_000098.3(CPT2):c.45G>C (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.468T>G (p.Thr156=)
NM_000098.3(CPT2):c.474T>C (p.Ser158=)
NM_000098.3(CPT2):c.486T>C (p.Phe162=)
NM_000098.3(CPT2):c.487C>T (p.Leu163=)
NM_000098.3(CPT2):c.495A>G (p.Thr165=)
NM_000098.3(CPT2):c.495A>T (p.Thr165=) rs1057523519
NM_000098.3(CPT2):c.507C>G (p.Gly169=) rs769316736
NM_000098.3(CPT2):c.519A>G (p.Pro173=)
NM_000098.3(CPT2):c.525G>A (p.Val175=)
NM_000098.3(CPT2):c.531C>T (p.His177=) rs1446192074
NM_000098.3(CPT2):c.532T>C (p.Leu178=)
NM_000098.3(CPT2):c.537C>T (p.Asn179=) rs1378193193
NM_000098.3(CPT2):c.54G>A (p.Pro18=)
NM_000098.3(CPT2):c.54G>C (p.Pro18=)
NM_000098.3(CPT2):c.555T>C (p.Thr185=) rs2100272046
NM_000098.3(CPT2):c.558C>T (p.Ile186=) rs1044393692
NM_000098.3(CPT2):c.564C>T (p.Phe188=)
NM_000098.3(CPT2):c.573C>T (p.Leu191=) rs2100272098
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.57A>G (p.Gly19=)
NM_000098.3(CPT2):c.588T>G (p.Pro196=) rs140853350
NM_000098.3(CPT2):c.594T>C (p.Ser198=)
NM_000098.3(CPT2):c.597G>A (p.Leu199=) rs2100272173
NM_000098.3(CPT2):c.600C>T (p.Ser200=)
NM_000098.3(CPT2):c.606T>C (p.Tyr202=) rs755830520
NM_000098.3(CPT2):c.60C>T (p.Ala20=) rs2100254803
NM_000098.3(CPT2):c.612C>T (p.Ala204=) rs1572384875
NM_000098.3(CPT2):c.624T>C (p.Asn208=) rs748844820
NM_000098.3(CPT2):c.633C>A (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.633C>T (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.657G>T (p.Arg219=) rs773236568
NM_000098.3(CPT2):c.66T>C (p.Ser22=) rs2100254831
NM_000098.3(CPT2):c.672T>C (p.Thr224=)
NM_000098.3(CPT2):c.676T>C (p.Leu226=)
NM_000098.3(CPT2):c.681C>T (p.Pro227=)
NM_000098.3(CPT2):c.690T>C (p.Ser230=) rs2100272461
NM_000098.3(CPT2):c.693G>A (p.Arg231=)
NM_000098.3(CPT2):c.69G>A (p.Arg23=)
NM_000098.3(CPT2):c.6G>T (p.Val2=)
NM_000098.3(CPT2):c.705C>T (p.Phe235=) rs1156707548
NM_000098.3(CPT2):c.711T>C (p.Asp237=)
NM_000098.3(CPT2):c.714C>T (p.Asp238=)
NM_000098.3(CPT2):c.723A>G (p.Arg241=)
NM_000098.3(CPT2):c.726C>T (p.His242=) rs1389247990
NM_000098.3(CPT2):c.736C>T (p.Leu246=) rs2100272590
NM_000098.3(CPT2):c.75C>G (p.Leu25=)
NM_000098.3(CPT2):c.768C>T (p.Val256=)
NM_000098.3(CPT2):c.769C>T (p.Leu257=)
NM_000098.3(CPT2):c.771G>T (p.Leu257=)
NM_000098.3(CPT2):c.777A>G (p.Gln259=)
NM_000098.3(CPT2):c.783G>A (p.Gly261=)
NM_000098.3(CPT2):c.786C>T (p.Asn262=) rs2100272707
NM_000098.3(CPT2):c.792G>A (p.Val264=)
NM_000098.3(CPT2):c.792G>T (p.Val264=) rs2100272728
NM_000098.3(CPT2):c.795C>T (p.Ser265=)
NM_000098.3(CPT2):c.801G>T (p.Ser267=) rs762195160
NM_000098.3(CPT2):c.810G>A (p.Gln270=)
NM_000098.3(CPT2):c.816T>C (p.His272=) rs2100272780
NM_000098.3(CPT2):c.819G>A (p.Leu273=)
NM_000098.3(CPT2):c.819G>T (p.Leu273=)
NM_000098.3(CPT2):c.822G>A (p.Lys274=)
NM_000098.3(CPT2):c.831C>T (p.Leu277=)
NM_000098.3(CPT2):c.837C>T (p.Asp279=) rs2100272829
NM_000098.3(CPT2):c.84C>A (p.Gly28=) rs772541454
NM_000098.3(CPT2):c.861C>T (p.Pro287=) rs1438692877
NM_000098.3(CPT2):c.876C>G (p.Thr292=) rs1179793805
NM_000098.3(CPT2):c.879T>C (p.Ser293=)
NM_000098.3(CPT2):c.87C>T (p.Ser29=)
NM_000098.3(CPT2):c.888A>G (p.Arg296=) rs2100272986
NM_000098.3(CPT2):c.891C>T (p.Asp297=)
NM_000098.3(CPT2):c.906C>T (p.Leu302=)
NM_000098.3(CPT2):c.907A>C (p.Arg303=)
NM_000098.3(CPT2):c.90G>C (p.Gly30=) rs2100254924
NM_000098.3(CPT2):c.90G>T (p.Gly30=)
NM_000098.3(CPT2):c.924T>C (p.Ser308=) rs756328565
NM_000098.3(CPT2):c.930C>A (p.Gly310=) rs371971257
NM_000098.3(CPT2):c.933T>C (p.Asn311=)
NM_000098.3(CPT2):c.939G>A (p.Glu313=)
NM_000098.3(CPT2):c.93C>G (p.Pro31=)
NM_000098.3(CPT2):c.943C>T (p.Leu315=) rs772621468
NM_000098.3(CPT2):c.954G>A (p.Val318=) rs2100273164
NM_000098.3(CPT2):c.960G>C (p.Ser320=)
NM_000098.3(CPT2):c.963A>G (p.Ala321=) rs1438452698
NM_000098.3(CPT2):c.966G>A (p.Val322=) rs986941002
NM_000098.3(CPT2):c.975C>A (p.Leu325=)
NM_000098.3(CPT2):c.978C>T (p.Cys326=) rs1488175615
NM_000098.3(CPT2):c.993C>A (p.Pro331=) rs2100273254
NM_000098.3(CPT2):c.996T>C (p.Ile332=) rs1645418009
NM_000098.3(CPT2):c.9C>T (p.Pro3=)

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