ClinVar Miner

List of variants reported as likely benign for adrenogenital syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_001395413.1(POR):c.308A>G (p.His103Arg) rs200622912 0.00093
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_001395413.1(POR):c.1521G>A (p.Ala507=) rs368697465 0.00046
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser) rs567904247 0.00029
NM_001395413.1(POR):c.456C>T (p.Phe152=) rs372672054 0.00026
NM_001395413.1(POR):c.508-20C>T rs200924788 0.00026
NM_001395413.1(POR):c.522G>T (p.Gly174=) rs72557913 0.00026
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_001395413.1(POR):c.1661-16G>A rs377723544 0.00016
NM_001395413.1(POR):c.1776C>T (p.Asn592=) rs782559723 0.00015
NM_001395413.1(POR):c.822-18T>G rs377191310 0.00015
NM_001395413.1(POR):c.335C>T (p.Ala112Val) rs199634961 0.00013
NM_001395413.1(POR):c.1671G>C (p.Val557=) rs782786537 0.00011
NM_001395413.1(POR):c.1755C>T (p.Asp585=) rs72557949 0.00011
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001395413.1(POR):c.468G>A (p.Leu156=) rs782013669 0.00009
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_001395413.1(POR):c.1974G>A (p.Ala658=) rs367807239 0.00008
NM_001395413.1(POR):c.1305G>A (p.Pro435=) rs199937789 0.00006
NM_001395413.1(POR):c.1389+9C>T rs781864218 0.00006
NM_001395413.1(POR):c.1950C>T (p.Leu650=) rs41301442 0.00006
NM_001395413.1(POR):c.229-5C>T rs782035827 0.00006
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
NM_001395413.1(POR):c.45G>A (p.Ala15=) rs782378313 0.00006
NM_001395413.1(POR):c.504C>T (p.Phe168=) rs372715546 0.00006
NM_001395413.1(POR):c.888C>T (p.Thr296=) rs180683888 0.00005
NM_001395413.1(POR):c.990C>T (p.Leu330=) rs376830846 0.00005
NM_001395413.1(POR):c.1020C>T (p.Ala340=) rs72557942 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 0.00004
NM_001395413.1(POR):c.588C>T (p.Gly196=) rs1489904713 0.00004
NM_001395413.1(POR):c.633-8C>T rs782533498 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_001395413.1(POR):c.1057+20C>T rs782720450 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1390-14G>A rs782583370 0.00003
NM_001395413.1(POR):c.1662C>T (p.Gly554=) rs541657992 0.00003
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp) rs72557950 0.00003
NM_001395413.1(POR):c.229-10C>A rs542774696 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001395413.1(POR):c.723-13C>T rs372119575 0.00003
NM_001395413.1(POR):c.1143G>A (p.Pro381=) rs375444057 0.00002
NM_001395413.1(POR):c.1389+10G>A rs782345141 0.00002
NM_001395413.1(POR):c.1661-12C>T rs369107420 0.00002
NM_001395413.1(POR):c.1661-20C>A rs1335012473 0.00002
NM_001395413.1(POR):c.1881C>T (p.Tyr627=) rs113741710 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.711C>T (p.Gly237=) rs374115833 0.00002
NM_001395413.1(POR):c.1029C>T (p.Asp343=) rs201568454 0.00001
NM_001395413.1(POR):c.1057+11C>T rs782029570 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1240-16C>T rs1266871005 0.00001
NM_001395413.1(POR):c.1374C>T (p.Ile458=) rs1003383217 0.00001
NM_001395413.1(POR):c.1575C>T (p.Thr525=) rs933264724 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001395413.1(POR):c.438C>T (p.Thr146=) rs782302163 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.825C>T (p.Pro275=) rs782052242 0.00001
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
NM_001395413.1(POR):c.1023C>T (p.Asp341=)
NM_001395413.1(POR):c.102C>T (p.Ile34=) rs371758475
NM_001395413.1(POR):c.1032C>T (p.Val344=)
NM_001395413.1(POR):c.1051C>T (p.Leu351=)
NM_001395413.1(POR):c.1053G>A (p.Leu351=)
NM_001395413.1(POR):c.1057+11C>G
NM_001395413.1(POR):c.1057+11_1057+12del
NM_001395413.1(POR):c.1057+12A>C
NM_001395413.1(POR):c.1057+17G>A
NM_001395413.1(POR):c.1057+18G>A
NM_001395413.1(POR):c.1058-4G>A
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
NM_001395413.1(POR):c.111C>T (p.Leu37=)
NM_001395413.1(POR):c.1125G>A (p.Leu375=) rs112719660
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
NM_001395413.1(POR):c.1239+11_1239+19del rs782775039
NM_001395413.1(POR):c.1239+14_1239+22del
NM_001395413.1(POR):c.1239+15C>T
NM_001395413.1(POR):c.1239+16C>T
NM_001395413.1(POR):c.1239+17C>T
NM_001395413.1(POR):c.1239+18C>T
NM_001395413.1(POR):c.1239+19C>T
NM_001395413.1(POR):c.1240-11G>A
NM_001395413.1(POR):c.1240-11G>C
NM_001395413.1(POR):c.1240-12C>T rs1208139617
NM_001395413.1(POR):c.1240-14C>A
NM_001395413.1(POR):c.1240-15C>T
NM_001395413.1(POR):c.1240-5C>T rs2116624933
NM_001395413.1(POR):c.1240-7C>T
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
NM_001395413.1(POR):c.1254C>T (p.Ser418=) rs1392235928
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
NM_001395413.1(POR):c.1389+12C>T
NM_001395413.1(POR):c.1389+18C>G
NM_001395413.1(POR):c.1389+19C>T
NM_001395413.1(POR):c.1390-12C>G
NM_001395413.1(POR):c.1390-15C>T
NM_001395413.1(POR):c.1390-4A>C
NM_001395413.1(POR):c.1390-5C>A
NM_001395413.1(POR):c.1392C>A (p.Val464=)
NM_001395413.1(POR):c.1395C>T (p.His465=)
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1410C>T (p.His470=)
NM_001395413.1(POR):c.1422G>C (p.Val474=)
NM_001395413.1(POR):c.1428G>A (p.Val476=)
NM_001395413.1(POR):c.1428G>C (p.Val476=)
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del) rs72553987
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
NM_001395413.1(POR):c.1482G>A (p.Leu494=) rs370326231
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
NM_001395413.1(POR):c.153C>T (p.Val51=)
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
NM_001395413.1(POR):c.156C>T (p.Pro52=) rs782368623
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
NM_001395413.1(POR):c.1593G>T (p.Val531=)
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
NM_001395413.1(POR):c.15C>T (p.His5=)
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
NM_001395413.1(POR):c.1660+10G>T
NM_001395413.1(POR):c.1660+12C>A
NM_001395413.1(POR):c.1660+16T>C
NM_001395413.1(POR):c.1660+16T>G
NM_001395413.1(POR):c.1660+17G>A
NM_001395413.1(POR):c.1660+17G>C
NM_001395413.1(POR):c.1660+8G>C
NM_001395413.1(POR):c.1660+9G>A rs1554559215
NM_001395413.1(POR):c.1661-10T>G
NM_001395413.1(POR):c.1661-13C>T
NM_001395413.1(POR):c.1661-19C>T
NM_001395413.1(POR):c.1661-5C>T
NM_001395413.1(POR):c.1661-7C>A
NM_001395413.1(POR):c.1661-7C>G
NM_001395413.1(POR):c.1671G>T (p.Val557=)
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
NM_001395413.1(POR):c.1722G>A (p.Leu574=) rs1554559285
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
NM_001395413.1(POR):c.179+10G>A
NM_001395413.1(POR):c.179+14C>G
NM_001395413.1(POR):c.179+14C>T
NM_001395413.1(POR):c.179+15_179+16del
NM_001395413.1(POR):c.179+16C>G
NM_001395413.1(POR):c.179+9C>T
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
NM_001395413.1(POR):c.180-15_180-14del
NM_001395413.1(POR):c.180-18C>T
NM_001395413.1(POR):c.180-5T>C
NM_001395413.1(POR):c.180-8T>C
NM_001395413.1(POR):c.1806+10G>T
NM_001395413.1(POR):c.1806+11C>T
NM_001395413.1(POR):c.1806+15C>A
NM_001395413.1(POR):c.1806+15C>G
NM_001395413.1(POR):c.1806+9G>C
NM_001395413.1(POR):c.1807-15C>T
NM_001395413.1(POR):c.1807-4C>T
NM_001395413.1(POR):c.1807-8G>C
NM_001395413.1(POR):c.1809C>G (p.Val603=)
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
NM_001395413.1(POR):c.1815C>G (p.Val605=)
NM_001395413.1(POR):c.1815C>T (p.Val605=)
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
NM_001395413.1(POR):c.1860C>A (p.Ile620=) rs553145252
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
NM_001395413.1(POR):c.186C>G (p.Ser62=)
NM_001395413.1(POR):c.1889+7G>A
NM_001395413.1(POR):c.1889+8A>C
NM_001395413.1(POR):c.1889+8_1889+11del rs782708898
NM_001395413.1(POR):c.1889+9G>T rs782024811
NM_001395413.1(POR):c.1890-11T>A
NM_001395413.1(POR):c.1890-12_1890-11del
NM_001395413.1(POR):c.1890-12dup
NM_001395413.1(POR):c.1890-13T>C
NM_001395413.1(POR):c.1890-14C>G
NM_001395413.1(POR):c.1890-17C>A
NM_001395413.1(POR):c.1890-19A>C
NM_001395413.1(POR):c.1890-20C>T
NM_001395413.1(POR):c.1890-6G>A
NM_001395413.1(POR):c.1890-8C>T
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
NM_001395413.1(POR):c.1965C>T (p.His655=)
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
NM_001395413.1(POR):c.1977G>A (p.Val659=)
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
NM_001395413.1(POR):c.2025G>A (p.Val675=)
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
NM_001395413.1(POR):c.228+14A>G
NM_001395413.1(POR):c.228+20T>C
NM_001395413.1(POR):c.228+20T>G
NM_001395413.1(POR):c.229-10C>T
NM_001395413.1(POR):c.229-11G>A
NM_001395413.1(POR):c.229-13C>T
NM_001395413.1(POR):c.229-15G>A
NM_001395413.1(POR):c.229-15_229-14del
NM_001395413.1(POR):c.229-16T>G
NM_001395413.1(POR):c.229-17G>A
NM_001395413.1(POR):c.229-19C>G
NM_001395413.1(POR):c.229-19C>T
NM_001395413.1(POR):c.229-19_229-18del
NM_001395413.1(POR):c.229-8T>C
NM_001395413.1(POR):c.229-9C>G
NM_001395413.1(POR):c.237C>T (p.Asn79=) rs1585126959
NM_001395413.1(POR):c.240C>A (p.Ile80=)
NM_001395413.1(POR):c.243C>T (p.Ile81=)
NM_001395413.1(POR):c.246G>T (p.Val82=)
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
NM_001395413.1(POR):c.264G>A (p.Thr88=)
NM_001395413.1(POR):c.270T>C (p.Thr90=)
NM_001395413.1(POR):c.285C>T (p.Ala95=) rs1554557307
NM_001395413.1(POR):c.291C>A (p.Arg97=)
NM_001395413.1(POR):c.300G>A (p.Lys100=)
NM_001395413.1(POR):c.303C>T (p.Asp101=)
NM_001395413.1(POR):c.336G>A (p.Ala112=)
NM_001395413.1(POR):c.33C>T (p.Thr11=)
NM_001395413.1(POR):c.345G>A (p.Glu115=)
NM_001395413.1(POR):c.348G>A (p.Glu116=)
NM_001395413.1(POR):c.357+13C>T
NM_001395413.1(POR):c.357+15C>T
NM_001395413.1(POR):c.357+16G>A
NM_001395413.1(POR):c.357+16G>T rs782083860
NM_001395413.1(POR):c.357+18G>A
NM_001395413.1(POR):c.357+18G>C
NM_001395413.1(POR):c.357+8G>A
NM_001395413.1(POR):c.358-12_358-11del
NM_001395413.1(POR):c.358-14C>G
NM_001395413.1(POR):c.358-18C>G
NM_001395413.1(POR):c.358-5T>C
NM_001395413.1(POR):c.358-9_358-4del
NM_001395413.1(POR):c.364C>T (p.Leu122=)
NM_001395413.1(POR):c.366G>A (p.Leu122=)
NM_001395413.1(POR):c.36G>A (p.Val12=) rs781862803
NM_001395413.1(POR):c.384C>T (p.Ile128=) rs782166276
NM_001395413.1(POR):c.39C>T (p.Ser13=)
NM_001395413.1(POR):c.408C>T (p.Cys136=)
NM_001395413.1(POR):c.423T>C (p.Gly141=)
NM_001395413.1(POR):c.447C>T (p.Ala149=)
NM_001395413.1(POR):c.450G>A (p.Gln150=)
NM_001395413.1(POR):c.453C>T (p.Asp151=)
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
NM_001395413.1(POR):c.477A>G (p.Thr159=)
NM_001395413.1(POR):c.480C>T (p.Asp160=)
NM_001395413.1(POR):c.483G>A (p.Val161=)
NM_001395413.1(POR):c.498C>T (p.Val166=)
NM_001395413.1(POR):c.507+18T>G
NM_001395413.1(POR):c.508-13T>C
NM_001395413.1(POR):c.508-19G>A
NM_001395413.1(POR):c.508-19G>T
NM_001395413.1(POR):c.508-5C>T
NM_001395413.1(POR):c.508-7C>T
NM_001395413.1(POR):c.516T>C (p.Gly172=)
NM_001395413.1(POR):c.519T>C (p.Leu173=)
NM_001395413.1(POR):c.51C>G (p.Ala17=)
NM_001395413.1(POR):c.51C>T (p.Ala17=)
NM_001395413.1(POR):c.522G>C (p.Gly174=)
NM_001395413.1(POR):c.531C>T (p.Thr177=) rs782409308
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
NM_001395413.1(POR):c.540C>T (p.His180=)
NM_001395413.1(POR):c.546T>C (p.Asn182=)
NM_001395413.1(POR):c.549C>T (p.Ala183=)
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.585C>T (p.Leu195=)
NM_001395413.1(POR):c.588C>A (p.Gly196=)
NM_001395413.1(POR):c.600C>T (p.Ile200=)
NM_001395413.1(POR):c.60A>G (p.Val20=)
NM_001395413.1(POR):c.612G>A (p.Gly204=)
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001395413.1(POR):c.618C>T (p.Gly206=)
NM_001395413.1(POR):c.621C>T (p.Asp207=)
NM_001395413.1(POR):c.624C>T (p.Asp208=)
NM_001395413.1(POR):c.632+11A>G
NM_001395413.1(POR):c.632+14C>A
NM_001395413.1(POR):c.632+15T>C rs2116595459
NM_001395413.1(POR):c.632+18C>T
NM_001395413.1(POR):c.632+7G>A
NM_001395413.1(POR):c.633-12T>C
NM_001395413.1(POR):c.633-14T>G
NM_001395413.1(POR):c.633-16C>G
NM_001395413.1(POR):c.633-20C>A
NM_001395413.1(POR):c.633-20C>G rs368640263
NM_001395413.1(POR):c.633-20C>T
NM_001395413.1(POR):c.633-7G>C
NM_001395413.1(POR):c.651C>T (p.Ile217=)
NM_001395413.1(POR):c.658C>A (p.Arg220=)
NM_001395413.1(POR):c.681G>T (p.Val227=)
NM_001395413.1(POR):c.711C>G (p.Gly237=)
NM_001395413.1(POR):c.722+10T>C
NM_001395413.1(POR):c.722+14C>T
NM_001395413.1(POR):c.722+15G>A
NM_001395413.1(POR):c.722+15G>T
NM_001395413.1(POR):c.722+17A>G
NM_001395413.1(POR):c.722+18G>A
NM_001395413.1(POR):c.722+8A>C
NM_001395413.1(POR):c.723-11C>G
NM_001395413.1(POR):c.723-11C>T
NM_001395413.1(POR):c.723-15dup
NM_001395413.1(POR):c.723-16G>C
NM_001395413.1(POR):c.723-7T>G
NM_001395413.1(POR):c.723-9C>T
NM_001395413.1(POR):c.738G>A (p.Glu246=)
NM_001395413.1(POR):c.753C>G (p.Thr251=)
NM_001395413.1(POR):c.753C>T (p.Thr251=)
NM_001395413.1(POR):c.765G>A (p.Ala255=)
NM_001395413.1(POR):c.765G>C (p.Ala255=)
NM_001395413.1(POR):c.768C>T (p.Ala256=)
NM_001395413.1(POR):c.771G>A (p.Lys257=)
NM_001395413.1(POR):c.774G>T (p.Val258=)
NM_001395413.1(POR):c.793C>A (p.Arg265=)
NM_001395413.1(POR):c.798G>T (p.Leu266=)
NM_001395413.1(POR):c.804C>T (p.Ser268=) rs201598971
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
NM_001395413.1(POR):c.810G>A (p.Glu270=)
NM_001395413.1(POR):c.813C>T (p.Asn271=)
NM_001395413.1(POR):c.821+10G>C
NM_001395413.1(POR):c.821+13del
NM_001395413.1(POR):c.821+16G>A
NM_001395413.1(POR):c.821+17T>C
NM_001395413.1(POR):c.821+18G>T
NM_001395413.1(POR):c.821+20C>T
NM_001395413.1(POR):c.821+9A>G
NM_001395413.1(POR):c.821+9_821+24del
NM_001395413.1(POR):c.822-11T>C
NM_001395413.1(POR):c.822-11_822-9del rs782696938
NM_001395413.1(POR):c.822-4C>G
NM_001395413.1(POR):c.822-5C>T
NM_001395413.1(POR):c.834C>T (p.Ala278=)
NM_001395413.1(POR):c.837G>A (p.Lys279=)
NM_001395413.1(POR):c.843G>A (p.Pro281=)
NM_001395413.1(POR):c.855A>G (p.Ala285=)
NM_001395413.1(POR):c.858C>A (p.Val286=)
NM_001395413.1(POR):c.874C>T (p.Leu292=)
NM_001395413.1(POR):c.87T>C (p.Ile29=)
NM_001395413.1(POR):c.913T>C (p.Leu305=)
NM_001395413.1(POR):c.924G>A (p.Ser308=)
NM_001395413.1(POR):c.924G>C (p.Ser308=) rs782746771
NM_001395413.1(POR):c.930C>T (p.Ser310=)
NM_001395413.1(POR):c.936C>T (p.Ile312=)
NM_001395413.1(POR):c.938+13A>G
NM_001395413.1(POR):c.938+16G>A
NM_001395413.1(POR):c.938+18C>T
NM_001395413.1(POR):c.938+22_938+24dup
NM_001395413.1(POR):c.938+23_938+24del
NM_001395413.1(POR):c.938+7G>A
NM_001395413.1(POR):c.939-20A>G
NM_001395413.1(POR):c.939-21_939-17del
NM_001395413.1(POR):c.939-6C>A
NM_001395413.1(POR):c.939-6C>T
NM_001395413.1(POR):c.957C>T (p.His319=)
NM_001395413.1(POR):c.96G>A (p.Ser32=)
NM_001395413.1(POR):c.984T>C (p.Ser328=)
NM_001395413.1(POR):c.993C>G (p.Val331=)

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