ClinVar Miner

List of variants in gene P3H1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 410
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1570-203T>C rs146000205 0.01325
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.941-93G>C rs116535864 0.01061
NM_022356.4(P3H1):c.1080+42C>T rs12127559 0.00995
NM_022356.4(P3H1):c.1838+197C>T rs45549742 0.00988
NM_022356.4(P3H1):c.1171-154G>A rs144904688 0.00979
NM_022356.4(P3H1):c.618+165G>A rs114059365 0.00869
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_022356.4(P3H1):c.1721-101G>A rs115436009 0.00795
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.619-47G>T rs72956934 0.00648
NM_022356.4(P3H1):c.2055+193G>A rs116577636 0.00625
NM_022356.4(P3H1):c.1080+115A>G rs7521929 0.00613
NM_022356.4(P3H1):c.466-60G>C rs151287070 0.00449
NM_022356.4(P3H1):c.1839-67G>A rs146671123 0.00426
NM_022356.4(P3H1):c.1720+284G>A rs138377612 0.00403
NM_022356.4(P3H1):c.1839-177del rs143712697 0.00390
NM_022356.4(P3H1):c.1345+225G>A rs75941006 0.00378
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1720+241G>A rs534899129 0.00339
NM_022356.4(P3H1):c.1081-254G>T rs149024016 0.00337
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.1915-23C>G rs74588317 0.00116
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.6G>A (p.Ala2=) rs899406860 0.00073
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.194G>A (p.Arg65Gln) rs372710498 0.00065
NM_022356.4(P3H1):c.1795G>A (p.Val599Met) rs140254470 0.00050
NM_022356.4(P3H1):c.2055+112G>A rs146002380 0.00042
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1838+9G>A rs374946028 0.00036
NM_022356.4(P3H1):c.918T>C (p.Tyr306=) rs147898950 0.00036
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022356.4(P3H1):c.2198A>G (p.Lys733Arg) rs769986758 0.00023
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1740G>A (p.Lys580=) rs201381243 0.00021
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.435C>G (p.Pro145=) rs759352609 0.00014
NM_022356.4(P3H1):c.1068C>T (p.Ile356=) rs373669933 0.00011
NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg) rs3738501 0.00010
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.783C>T (p.Asn261=) rs751705501 0.00008
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_022356.4(P3H1):c.1131C>T (p.Phe377=) rs750668333 0.00006
NM_022356.4(P3H1):c.1838+8C>T rs549922561 0.00006
NM_022356.4(P3H1):c.1908C>T (p.Thr636=) rs368979453 0.00006
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.2100A>G (p.Pro700=) rs372711844 0.00005
NM_022356.4(P3H1):c.1081-9T>C rs778680764 0.00004
NM_022356.4(P3H1):c.1224-14G>A rs368063653 0.00004
NM_022356.4(P3H1):c.1785C>T (p.Ala595=) rs369763531 0.00004
NM_022356.4(P3H1):c.1830C>T (p.Arg610=) rs780329868 0.00004
NM_022356.4(P3H1):c.2055+12T>C rs372785606 0.00004
NM_022356.4(P3H1):c.2190G>A (p.Ser730=) rs537555305 0.00004
NM_022356.4(P3H1):c.809-5T>C rs781474350 0.00004
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_022356.4(P3H1):c.1326G>A (p.Val442=) rs150032924 0.00003
NM_022356.4(P3H1):c.1683T>C (p.Phe561=) rs769277923 0.00003
NM_022356.4(P3H1):c.1686C>T (p.Ser562=) rs747701845 0.00003
NM_022356.4(P3H1):c.2055+48G>A rs773921230 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.1081-5C>T rs1652365990 0.00002
NM_022356.4(P3H1):c.1134C>T (p.Phe378=) rs765160832 0.00002
NM_022356.4(P3H1):c.1223+19C>T rs374036781 0.00002
NM_022356.4(P3H1):c.1482A>G (p.Ala494=) rs749992555 0.00002
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_022356.4(P3H1):c.1915-18C>T rs757432937 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022356.4(P3H1):c.2154C>T (p.Pro718=) rs775626323 0.00002
NM_022356.4(P3H1):c.852G>A (p.Thr284=) rs765846480 0.00002
NM_022356.4(P3H1):c.951T>C (p.Tyr317=) rs758079491 0.00002
NM_022356.4(P3H1):c.102G>T (p.Thr34=) rs1361387169 0.00001
NM_022356.4(P3H1):c.1081-14T>C rs1343062442 0.00001
NM_022356.4(P3H1):c.1081-7C>A rs201868125 0.00001
NM_022356.4(P3H1):c.1086C>T (p.Ala362=) rs777090883 0.00001
NM_022356.4(P3H1):c.1176A>G (p.Ser392=) rs748354511 0.00001
NM_022356.4(P3H1):c.1242C>T (p.Ala414=) rs780173522 0.00001
NM_022356.4(P3H1):c.1290C>G (p.Thr430=) rs771496600 0.00001
NM_022356.4(P3H1):c.1346-20G>C rs1462110728 0.00001
NM_022356.4(P3H1):c.1359G>T (p.Leu453=) rs529980414 0.00001
NM_022356.4(P3H1):c.1474-16G>A rs756502315 0.00001
NM_022356.4(P3H1):c.1527C>T (p.Pro509=) rs1349076527 0.00001
NM_022356.4(P3H1):c.1794C>T (p.Leu598=) rs1343750686 0.00001
NM_022356.4(P3H1):c.1881T>C (p.Phe627=) rs142868351 0.00001
NM_022356.4(P3H1):c.1992C>T (p.Val664=) rs1022372763 0.00001
NM_022356.4(P3H1):c.2145G>A (p.Gln715=) rs1306746191 0.00001
NM_022356.4(P3H1):c.357C>T (p.Cys119=) rs1351741844 0.00001
NM_022356.4(P3H1):c.372C>T (p.Leu124=) rs759316608 0.00001
NM_022356.4(P3H1):c.396C>G (p.Leu132=) rs748627996 0.00001
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_022356.4(P3H1):c.585C>T (p.Ala195=) rs1306407571 0.00001
NM_022356.4(P3H1):c.618+10A>G rs575664473 0.00001
NM_022356.4(P3H1):c.618+4A>G rs191121940 0.00001
NM_022356.4(P3H1):c.645C>T (p.Leu215=) rs778978851 0.00001
NM_022356.4(P3H1):c.714C>T (p.Ala238=) rs1652573953 0.00001
NM_022356.4(P3H1):c.885C>T (p.Pro295=) rs776525279 0.00001
NM_022356.4(P3H1):c.906G>A (p.Ser302=) rs772183831 0.00001
NM_022356.4(P3H1):c.993C>T (p.Phe331=) rs1250792335 0.00001
NM_022356.4(P3H1):c.*4_*10del rs767524042
NM_022356.4(P3H1):c.1002C>T (p.Asp334=)
NM_022356.4(P3H1):c.1005G>A (p.Glu335=)
NM_022356.4(P3H1):c.1014C>T (p.Asn338=) rs1652489003
NM_022356.4(P3H1):c.1021T>C (p.Leu341=)
NM_022356.4(P3H1):c.1035A>T (p.Ala345=)
NM_022356.4(P3H1):c.1056C>T (p.His352=)
NM_022356.4(P3H1):c.1074C>A (p.Pro358=)
NM_022356.4(P3H1):c.1080+12C>G
NM_022356.4(P3H1):c.1080+14_1080+17del
NM_022356.4(P3H1):c.1080+17T>C
NM_022356.4(P3H1):c.1081-10T>A
NM_022356.4(P3H1):c.1081-13T>G
NM_022356.4(P3H1):c.1081-20_1081-18del
NM_022356.4(P3H1):c.1081-4T>C rs2124125449
NM_022356.4(P3H1):c.1092G>A (p.Glu364=)
NM_022356.4(P3H1):c.1098A>G (p.Arg366=)
NM_022356.4(P3H1):c.1140T>C (p.Tyr380=)
NM_022356.4(P3H1):c.1170+13A>G
NM_022356.4(P3H1):c.1170+17G>A
NM_022356.4(P3H1):c.1170+19G>A
NM_022356.4(P3H1):c.1170+8dup
NM_022356.4(P3H1):c.1171-14C>T
NM_022356.4(P3H1):c.1171-4T>C
NM_022356.4(P3H1):c.1182T>G (p.Thr394=)
NM_022356.4(P3H1):c.1188A>G (p.Glu396=)
NM_022356.4(P3H1):c.1197T>A (p.Ile399=)
NM_022356.4(P3H1):c.120C>G (p.Ala40=) rs2124176366
NM_022356.4(P3H1):c.1212A>G (p.Gln404=)
NM_022356.4(P3H1):c.1218A>G (p.Lys406=)
NM_022356.4(P3H1):c.1223+10T>C
NM_022356.4(P3H1):c.1223+11T>C
NM_022356.4(P3H1):c.1223+11_1223+13dup
NM_022356.4(P3H1):c.1223+12G>A
NM_022356.4(P3H1):c.1223+14A>G
NM_022356.4(P3H1):c.1223+8C>T rs2124122287
NM_022356.4(P3H1):c.1224-10G>A
NM_022356.4(P3H1):c.1224-12C>A
NM_022356.4(P3H1):c.1224-13G>A
NM_022356.4(P3H1):c.1224-15C>T
NM_022356.4(P3H1):c.1224-20C>G rs1458163337
NM_022356.4(P3H1):c.1224-20C>T
NM_022356.4(P3H1):c.1224-4A>G rs1652311986
NM_022356.4(P3H1):c.1224-8G>A
NM_022356.4(P3H1):c.1224-8G>C rs749297067
NM_022356.4(P3H1):c.1260G>A (p.Glu420=)
NM_022356.4(P3H1):c.1269C>T (p.Asn423=) rs1553142371
NM_022356.4(P3H1):c.129C>T (p.Thr43=)
NM_022356.4(P3H1):c.1305G>A (p.Lys435=)
NM_022356.4(P3H1):c.1308C>G (p.Thr436=) rs111588746
NM_022356.4(P3H1):c.1308C>T (p.Thr436=) rs111588746
NM_022356.4(P3H1):c.1318C>T (p.Leu440=)
NM_022356.4(P3H1):c.1345+13A>G
NM_022356.4(P3H1):c.1345+15A>C
NM_022356.4(P3H1):c.1345+17A>G
NM_022356.4(P3H1):c.1345+7G>A
NM_022356.4(P3H1):c.1346-12A>G
NM_022356.4(P3H1):c.1346-15G>T
NM_022356.4(P3H1):c.1346-7T>C
NM_022356.4(P3H1):c.1350C>T (p.Gly450=)
NM_022356.4(P3H1):c.1354C>T (p.Leu452=) rs1157398498
NM_022356.4(P3H1):c.1395C>G (p.Leu465=)
NM_022356.4(P3H1):c.1411C>A (p.Arg471=)
NM_022356.4(P3H1):c.1434C>A (p.Ile478=) rs144981408
NM_022356.4(P3H1):c.1443C>T (p.His481=)
NM_022356.4(P3H1):c.1446G>A (p.Glu482=) rs1211741602
NM_022356.4(P3H1):c.1455G>A (p.Glu485=)
NM_022356.4(P3H1):c.1456C>T (p.Leu486=) rs1652169932
NM_022356.4(P3H1):c.1458G>A (p.Leu486=) rs202023497
NM_022356.4(P3H1):c.1461G>A (p.Gln487=) rs1553141914
NM_022356.4(P3H1):c.1473+11C>T
NM_022356.4(P3H1):c.1473+12C>T
NM_022356.4(P3H1):c.1473+16T>C
NM_022356.4(P3H1):c.1474-19T>C
NM_022356.4(P3H1):c.1474-4G>A
NM_022356.4(P3H1):c.1474-5T>C
NM_022356.4(P3H1):c.1474-9G>A rs2124109165
NM_022356.4(P3H1):c.1476G>T (p.Val492=)
NM_022356.4(P3H1):c.147G>A (p.Gly49=)
NM_022356.4(P3H1):c.1497C>G (p.Gly499=)
NM_022356.4(P3H1):c.1500C>T (p.Tyr500=)
NM_022356.4(P3H1):c.1512C>G (p.Thr504=)
NM_022356.4(P3H1):c.1524T>G (p.Thr508=)
NM_022356.4(P3H1):c.1533A>G (p.Glu511=)
NM_022356.4(P3H1):c.1551T>C (p.Thr517=)
NM_022356.4(P3H1):c.1566C>G (p.Leu522=) rs2124108331
NM_022356.4(P3H1):c.1569+13C>G
NM_022356.4(P3H1):c.1569+15G>C
NM_022356.4(P3H1):c.1569+17G>A
NM_022356.4(P3H1):c.156C>T (p.Pro52=)
NM_022356.4(P3H1):c.1570-17A>G
NM_022356.4(P3H1):c.1570-294T>C rs1451483017
NM_022356.4(P3H1):c.1570-314_1570-313insCC rs1170151221
NM_022356.4(P3H1):c.1570-318_1570-317insCA rs1198827630
NM_022356.4(P3H1):c.1570-324_1570-323insCCC rs1232774164
NM_022356.4(P3H1):c.1570-327G>A rs1432381757
NM_022356.4(P3H1):c.1578A>G (p.Gln526=)
NM_022356.4(P3H1):c.15G>A (p.Ala5=)
NM_022356.4(P3H1):c.1608C>T (p.His536=)
NM_022356.4(P3H1):c.1609C>T (p.Leu537=)
NM_022356.4(P3H1):c.1611G>A (p.Leu537=)
NM_022356.4(P3H1):c.1632G>A (p.Lys544=) rs2124093858
NM_022356.4(P3H1):c.166C>T (p.Leu56=) rs746752523
NM_022356.4(P3H1):c.1671G>A (p.Thr557=)
NM_022356.4(P3H1):c.1674C>G (p.Pro558=)
NM_022356.4(P3H1):c.1674C>T (p.Pro558=)
NM_022356.4(P3H1):c.1689C>T (p.Tyr563=) rs2124093257
NM_022356.4(P3H1):c.168G>C (p.Leu56=) rs2124175891
NM_022356.4(P3H1):c.16T>C (p.Leu6=)
NM_022356.4(P3H1):c.1701G>A (p.Val567=)
NM_022356.4(P3H1):c.1716C>A (p.Ile572=)
NM_022356.4(P3H1):c.171C>T (p.Ser57=)
NM_022356.4(P3H1):c.1720+10A>G
NM_022356.4(P3H1):c.1720+16C>T
NM_022356.4(P3H1):c.1720+17C>T
NM_022356.4(P3H1):c.1720+20C>A
NM_022356.4(P3H1):c.1720+261C>T rs113149930
NM_022356.4(P3H1):c.1721-16G>A
NM_022356.4(P3H1):c.1721-18G>A
NM_022356.4(P3H1):c.1721-19T>C
NM_022356.4(P3H1):c.1721-20A>G
NM_022356.4(P3H1):c.1721-20_1721-19del
NM_022356.4(P3H1):c.1721-5C>T
NM_022356.4(P3H1):c.1721-6C>T
NM_022356.4(P3H1):c.1721-9T>C
NM_022356.4(P3H1):c.1725C>A (p.Val575=)
NM_022356.4(P3H1):c.1728G>A (p.Gln576=)
NM_022356.4(P3H1):c.1770C>T (p.Asn590=)
NM_022356.4(P3H1):c.1779G>C (p.Leu593=)
NM_022356.4(P3H1):c.1803C>T (p.Val601=)
NM_022356.4(P3H1):c.1818C>G (p.Ala606=)
NM_022356.4(P3H1):c.1821C>T (p.Tyr607=)
NM_022356.4(P3H1):c.1827C>T (p.Phe609=)
NM_022356.4(P3H1):c.1836C>T (p.Tyr612=)
NM_022356.4(P3H1):c.1838+11G>A
NM_022356.4(P3H1):c.1838+16G>A
NM_022356.4(P3H1):c.1838+17T>C rs1651838250
NM_022356.4(P3H1):c.1838+17T>G
NM_022356.4(P3H1):c.1838+18G>A
NM_022356.4(P3H1):c.1838+19C>G
NM_022356.4(P3H1):c.1839-11G>T
NM_022356.4(P3H1):c.1839-18T>C
NM_022356.4(P3H1):c.1839-19A>C
NM_022356.4(P3H1):c.1839-5C>G
NM_022356.4(P3H1):c.1839-9C>T
NM_022356.4(P3H1):c.1842C>T (p.Ala614=)
NM_022356.4(P3H1):c.1866C>T (p.Phe622=)
NM_022356.4(P3H1):c.186G>A (p.Leu62=)
NM_022356.4(P3H1):c.1872C>T (p.Gly624=)
NM_022356.4(P3H1):c.1890T>C (p.Thr630=) rs1570454832
NM_022356.4(P3H1):c.1894C>T (p.Leu632=)
NM_022356.4(P3H1):c.189C>T (p.Arg63=)
NM_022356.4(P3H1):c.1911G>T (p.Val637=)
NM_022356.4(P3H1):c.1914+10C>T
NM_022356.4(P3H1):c.1914+13T>C
NM_022356.4(P3H1):c.1914+15G>A
NM_022356.4(P3H1):c.1914+9T>C
NM_022356.4(P3H1):c.1915-13C>T
NM_022356.4(P3H1):c.1915-17C>T
NM_022356.4(P3H1):c.1915-17_1915-16del
NM_022356.4(P3H1):c.1915-19C>T
NM_022356.4(P3H1):c.1915-9C>T rs1402209381
NM_022356.4(P3H1):c.1923G>C (p.Val641=)
NM_022356.4(P3H1):c.1956T>C (p.Ser652=)
NM_022356.4(P3H1):c.195G>A (p.Arg65=)
NM_022356.4(P3H1):c.1977T>C (p.His659=)
NM_022356.4(P3H1):c.1980A>G (p.Gly660=)
NM_022356.4(P3H1):c.1998G>A (p.Arg666=)
NM_022356.4(P3H1):c.2016C>T (p.Ile672=)
NM_022356.4(P3H1):c.2019C>A (p.Ala673=) rs1651779110
NM_022356.4(P3H1):c.2019C>T (p.Ala673=)
NM_022356.4(P3H1):c.2022G>A (p.Leu674=)
NM_022356.4(P3H1):c.2028C>T (p.Phe676=)
NM_022356.4(P3H1):c.2055+10G>C
NM_022356.4(P3H1):c.2055+11C>T
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2055+13C>T rs76628300
NM_022356.4(P3H1):c.2055+13_2055+31del
NM_022356.4(P3H1):c.2055+14G>A
NM_022356.4(P3H1):c.2055+14G>C
NM_022356.4(P3H1):c.2055+15A>T
NM_022356.4(P3H1):c.2055+41G>A rs751605347
NM_022356.4(P3H1):c.2056-15G>A
NM_022356.4(P3H1):c.2056-173C>T
NM_022356.4(P3H1):c.2056-8C>T
NM_022356.4(P3H1):c.2061G>A (p.Arg687=)
NM_022356.4(P3H1):c.2091C>T (p.Leu697=) rs1360993770
NM_022356.4(P3H1):c.2130C>T (p.Pro710=)
NM_022356.4(P3H1):c.2131C>T (p.Leu711=)
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.2148C>T (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.2154C>G (p.Pro718=)
NM_022356.4(P3H1):c.2169G>A (p.Glu723=)
NM_022356.4(P3H1):c.2206C>T (p.Leu736=)
NM_022356.4(P3H1):c.2208A>C (p.Leu736=)
NM_022356.4(P3H1):c.2208A>G (p.Leu736=)
NM_022356.4(P3H1):c.24G>A (p.Leu8=)
NM_022356.4(P3H1):c.306C>G (p.Ala102=)
NM_022356.4(P3H1):c.309C>T (p.Ala103=)
NM_022356.4(P3H1):c.319C>T (p.Leu107=)
NM_022356.4(P3H1):c.336C>G (p.Gly112=)
NM_022356.4(P3H1):c.336C>T (p.Gly112=)
NM_022356.4(P3H1):c.342G>A (p.Leu114=)
NM_022356.4(P3H1):c.354C>G (p.Ala118=) rs1214218371
NM_022356.4(P3H1):c.360G>A (p.Leu120=) rs2124174573
NM_022356.4(P3H1):c.369C>T (p.Cys123=)
NM_022356.4(P3H1):c.378G>C (p.Pro126=)
NM_022356.4(P3H1):c.384C>T (p.Ala128=)
NM_022356.4(P3H1):c.393G>A (p.Ser131=) rs982525184
NM_022356.4(P3H1):c.399C>T (p.Ser133=)
NM_022356.4(P3H1):c.411G>A (p.Glu137=)
NM_022356.4(P3H1):c.45C>G (p.Val15=)
NM_022356.4(P3H1):c.465+10T>G
NM_022356.4(P3H1):c.465+17A>C
NM_022356.4(P3H1):c.465+20C>T
NM_022356.4(P3H1):c.465+8C>A
NM_022356.4(P3H1):c.465+9C>T
NM_022356.4(P3H1):c.466-15A>G
NM_022356.4(P3H1):c.474G>A (p.Lys158=)
NM_022356.4(P3H1):c.483A>G (p.Lys161=)
NM_022356.4(P3H1):c.495A>C (p.Ala165=)
NM_022356.4(P3H1):c.501C>T (p.His167=)
NM_022356.4(P3H1):c.504C>T (p.Thr168=)
NM_022356.4(P3H1):c.510C>T (p.Phe170=) rs1028946631
NM_022356.4(P3H1):c.516C>A (p.Gly172=)
NM_022356.4(P3H1):c.51C>T (p.Ala17=)
NM_022356.4(P3H1):c.555T>C (p.Tyr185=)
NM_022356.4(P3H1):c.558C>T (p.Tyr186=)
NM_022356.4(P3H1):c.561A>G (p.Gln187=)
NM_022356.4(P3H1):c.573A>C (p.Gly191=)
NM_022356.4(P3H1):c.57C>T (p.Ala19=)
NM_022356.4(P3H1):c.612C>T (p.Pro204=)
NM_022356.4(P3H1):c.618+10del rs760593141
NM_022356.4(P3H1):c.618+12T>C rs1570479338
NM_022356.4(P3H1):c.618+12T>G
NM_022356.4(P3H1):c.618+18C>T
NM_022356.4(P3H1):c.618+19C>T
NM_022356.4(P3H1):c.619-15C>T rs2124143402
NM_022356.4(P3H1):c.619-15_619-14del
NM_022356.4(P3H1):c.619-16T>A
NM_022356.4(P3H1):c.619-16T>C
NM_022356.4(P3H1):c.619-17C>A
NM_022356.4(P3H1):c.619-19T>C
NM_022356.4(P3H1):c.619-5A>C rs1057523341
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)
NM_022356.4(P3H1):c.630A>G (p.Arg210=) rs1570474459
NM_022356.4(P3H1):c.639G>A (p.Val213=)
NM_022356.4(P3H1):c.66C>T (p.Ala22=)
NM_022356.4(P3H1):c.678C>G (p.Pro226=)
NM_022356.4(P3H1):c.678C>T (p.Pro226=)
NM_022356.4(P3H1):c.682C>T (p.Leu228=)
NM_022356.4(P3H1):c.684A>G (p.Leu228=)
NM_022356.4(P3H1):c.684A>T (p.Leu228=)
NM_022356.4(P3H1):c.690G>A (p.Ala230=)
NM_022356.4(P3H1):c.690G>C (p.Ala230=) rs376714509
NM_022356.4(P3H1):c.693G>T (p.Ala231=)
NM_022356.4(P3H1):c.694C>T (p.Leu232=)
NM_022356.4(P3H1):c.696G>A (p.Leu232=)
NM_022356.4(P3H1):c.696G>T (p.Leu232=)
NM_022356.4(P3H1):c.699A>G (p.Gln233=)
NM_022356.4(P3H1):c.69G>A (p.Glu23=) rs1237398609
NM_022356.4(P3H1):c.708T>C (p.Phe236=)
NM_022356.4(P3H1):c.711G>T (p.Val237=)
NM_022356.4(P3H1):c.72C>T (p.Val24=) rs2124176716
NM_022356.4(P3H1):c.738C>T (p.Cys246=)
NM_022356.4(P3H1):c.753C>T (p.Asp251=)
NM_022356.4(P3H1):c.765C>T (p.Tyr255=)
NM_022356.4(P3H1):c.780C>T (p.Tyr260=)
NM_022356.4(P3H1):c.786T>C (p.Ala262=)
NM_022356.4(P3H1):c.792C>G (p.Leu264=)
NM_022356.4(P3H1):c.792C>T (p.Leu264=)
NM_022356.4(P3H1):c.808+10G>A
NM_022356.4(P3H1):c.808+10G>T
NM_022356.4(P3H1):c.808+11T>C
NM_022356.4(P3H1):c.808+14A>G
NM_022356.4(P3H1):c.808+4C>T
NM_022356.4(P3H1):c.808+7_808+8delinsAT rs2124141850
NM_022356.4(P3H1):c.808+9A>T rs1553143084
NM_022356.4(P3H1):c.809-10T>C
NM_022356.4(P3H1):c.809-11A>G
NM_022356.4(P3H1):c.809-12G>A rs1652554096
NM_022356.4(P3H1):c.809-18C>T
NM_022356.4(P3H1):c.809-8C>T
NM_022356.4(P3H1):c.825C>G (p.Val275=)
NM_022356.4(P3H1):c.825C>T (p.Val275=)
NM_022356.4(P3H1):c.831C>T (p.Asn277=)
NM_022356.4(P3H1):c.837G>A (p.Lys279=)
NM_022356.4(P3H1):c.849C>T (p.Val283=)
NM_022356.4(P3H1):c.882G>A (p.Lys294=) rs1570473600
NM_022356.4(P3H1):c.900C>G (p.Leu300=) rs780210200
NM_022356.4(P3H1):c.900C>T (p.Leu300=)
NM_022356.4(P3H1):c.921G>A (p.Leu307=)
NM_022356.4(P3H1):c.930C>T (p.Ala310=)
NM_022356.4(P3H1):c.936T>C (p.Tyr312=)
NM_022356.4(P3H1):c.940+10A>G
NM_022356.4(P3H1):c.940+15C>G
NM_022356.4(P3H1):c.940+19C>G
NM_022356.4(P3H1):c.940+20C>G
NM_022356.4(P3H1):c.940+8C>T
NM_022356.4(P3H1):c.941-10C>T
NM_022356.4(P3H1):c.963T>C (p.Val321=)
NM_022356.4(P3H1):c.987C>T (p.Leu329=)

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