ClinVar Miner

List of variants in gene PARN studied for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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Gene type:
ClinVar version:
Total variants: 777
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HGVS dbSNP gnomAD frequency
NM_002582.4(PARN):c.918+14T>C rs75783314 0.04521
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504 0.00623
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_002582.4(PARN):c.840+6T>C rs59687658 0.00230
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00209
NM_002582.4(PARN):c.1761C>T (p.Ser587=) rs148052946 0.00110
NM_002582.4(PARN):c.1782C>T (p.Thr594=) rs187555579 0.00107
NM_002582.4(PARN):c.1263-8T>G rs182460499 0.00097
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285 0.00070
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302 0.00050
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu) rs201963032 0.00048
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886 0.00046
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) rs368440052 0.00041
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366 0.00038
NM_002582.4(PARN):c.1405+11A>C rs185306324 0.00030
NM_002582.4(PARN):c.1006-5T>C rs377692519 0.00026
NM_002582.4(PARN):c.1434C>T (p.Asp478=) rs368012289 0.00023
NM_002582.4(PARN):c.1413T>C (p.Ile471=) rs371869778 0.00021
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459 0.00021
NM_002582.4(PARN):c.1635C>G (p.Pro545=) rs372937126 0.00021
NM_002582.4(PARN):c.1733T>G (p.Leu578Arg) rs748575531 0.00021
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) rs200434143 0.00020
NM_002582.4(PARN):c.389-8G>A rs200322751 0.00020
NM_002582.4(PARN):c.1406-9C>T rs530099133 0.00019
NM_002582.4(PARN):c.943A>G (p.Thr315Ala) rs371788207 0.00019
NM_002582.4(PARN):c.1192+4C>T rs185546844 0.00018
NM_002582.4(PARN):c.978A>G (p.Lys326=) rs200678657 0.00017
NM_002582.4(PARN):c.1193-8T>G rs372257813 0.00013
NM_002582.4(PARN):c.1151A>G (p.Tyr384Cys) rs199551987 0.00011
NM_002582.4(PARN):c.1875G>A (p.Ser625=) rs370090572 0.00011
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln) rs201053607 0.00010
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588 0.00010
NM_002582.4(PARN):c.1405+7C>T rs529494184 0.00010
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086 0.00010
NM_002582.4(PARN):c.1476G>A (p.Lys492=) rs1401747770 0.00009
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_002582.4(PARN):c.702+5C>T rs368739970 0.00009
NM_002582.4(PARN):c.703-6T>C rs370304152 0.00009
NM_002582.4(PARN):c.1320G>A (p.Leu440=) rs376352894 0.00008
NM_002582.4(PARN):c.1405+3A>G rs368839652 0.00008
NM_002582.4(PARN):c.198A>C (p.Leu66=) rs562694645 0.00008
NM_002582.4(PARN):c.639T>C (p.Ile213=) rs377042458 0.00008
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_002582.4(PARN):c.1891A>G (p.Thr631Ala) rs200677089 0.00007
NM_002582.4(PARN):c.666G>A (p.Pro222=) rs186335640 0.00007
NM_002582.4(PARN):c.917C>T (p.Ala306Val) rs201362263 0.00007
NM_002582.4(PARN):c.1006-12C>T rs767292858 0.00006
NM_002582.4(PARN):c.1081+16C>T rs552550807 0.00006
NM_002582.4(PARN):c.1082-13T>A rs188469919 0.00006
NM_002582.4(PARN):c.1405+8G>A rs373527624 0.00006
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser) rs199651788 0.00006
NM_002582.4(PARN):c.15G>A (p.Arg5=) rs559617389 0.00006
NM_002582.4(PARN):c.1660C>T (p.Arg554Cys) rs754540436 0.00006
NM_002582.4(PARN):c.328-16G>A rs372305239 0.00006
NM_002582.4(PARN):c.745C>T (p.Arg249Cys) rs774170618 0.00006
NM_002582.4(PARN):c.1381C>G (p.Leu461Val) rs1225884986 0.00005
NM_002582.4(PARN):c.1654T>C (p.Tyr552His) rs965806129 0.00005
NM_002582.4(PARN):c.1655A>G (p.Tyr552Cys) rs375813873 0.00005
NM_002582.4(PARN):c.168G>C (p.Lys56Asn) rs375964590 0.00005
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00005
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200 0.00005
NM_002582.4(PARN):c.1101A>G (p.Pro367=) rs199737339 0.00004
NM_002582.4(PARN):c.1192+10A>G rs1431920646 0.00004
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_002582.4(PARN):c.19+4C>T rs748893191 0.00004
NM_002582.4(PARN):c.245+15C>T rs372872068 0.00004
NM_002582.4(PARN):c.327+7A>C rs1376159353 0.00004
NM_002582.4(PARN):c.383G>A (p.Arg128Gln) rs778795386 0.00004
NM_002582.4(PARN):c.482A>G (p.Tyr161Cys) rs201990148 0.00004
NM_002582.4(PARN):c.530A>G (p.Gln177Arg) rs772994032 0.00004
NM_002582.4(PARN):c.554+16A>G rs757429918 0.00004
NM_002582.4(PARN):c.619G>A (p.Gly207Arg) rs373203553 0.00004
NM_002582.4(PARN):c.659+19T>C rs989916354 0.00004
NM_002582.4(PARN):c.877G>A (p.Val293Ile) rs758441481 0.00004
NM_002582.4(PARN):c.1081+17G>A rs772169396 0.00003
NM_002582.4(PARN):c.1082-9T>C rs750247475 0.00003
NM_002582.4(PARN):c.1193-4T>C rs913658784 0.00003
NM_002582.4(PARN):c.1213A>G (p.Lys405Glu) rs548716060 0.00003
NM_002582.4(PARN):c.1347T>C (p.His449=) rs772723061 0.00003
NM_002582.4(PARN):c.1544G>T (p.Arg515Ile) rs762840315 0.00003
NM_002582.4(PARN):c.1637A>G (p.Tyr546Cys) rs752082579 0.00003
NM_002582.4(PARN):c.1691T>C (p.Val564Ala) rs200433771 0.00003
NM_002582.4(PARN):c.1773T>G (p.Leu591=) rs528847015 0.00003
NM_002582.4(PARN):c.178-9C>A rs779459015 0.00003
NM_002582.4(PARN):c.1791T>C (p.Cys597=) rs751632900 0.00003
NM_002582.4(PARN):c.1800C>G (p.Pro600=) rs766731547 0.00003
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00003
NM_002582.4(PARN):c.245+19C>T rs762440317 0.00003
NM_002582.4(PARN):c.27G>A (p.Lys9=) rs746897251 0.00003
NM_002582.4(PARN):c.328-8dup rs778705967 0.00003
NM_002582.4(PARN):c.411A>G (p.Glu137=) rs368804005 0.00003
NM_002582.4(PARN):c.448C>T (p.Arg150Cys) rs777558836 0.00003
NM_002582.4(PARN):c.459G>A (p.Ala153=) rs960463679 0.00003
NM_002582.4(PARN):c.540T>C (p.Phe180=) rs375818973 0.00003
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00003
NM_002582.4(PARN):c.723C>T (p.Ile241=) rs759287643 0.00003
NM_002582.4(PARN):c.840G>A (p.Ser280=) rs200026431 0.00003
NM_002582.4(PARN):c.918+18C>T rs751944132 0.00003
NM_002582.4(PARN):c.991A>G (p.Thr331Ala) rs772057743 0.00003
NM_002582.4(PARN):c.1031C>T (p.Ala344Val) rs374213957 0.00002
NM_002582.4(PARN):c.1048T>G (p.Leu350Val) rs528529286 0.00002
NM_002582.4(PARN):c.1192+7A>G rs766337795 0.00002
NM_002582.4(PARN):c.1250C>G (p.Pro417Arg) rs1451726091 0.00002
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927 0.00002
NM_002582.4(PARN):c.1406-8G>A rs529177861 0.00002
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg) rs375177493 0.00002
NM_002582.4(PARN):c.1513C>T (p.Arg505Trp) rs375185166 0.00002
NM_002582.4(PARN):c.161A>T (p.Tyr54Phe) rs1972795595 0.00002
NM_002582.4(PARN):c.1762G>A (p.Asp588Asn) rs750247455 0.00002
NM_002582.4(PARN):c.1768G>C (p.Glu590Gln) rs975097908 0.00002
NM_002582.4(PARN):c.1787C>T (p.Ser596Phe) rs1051834133 0.00002
NM_002582.4(PARN):c.1842G>A (p.Met614Ile) rs913617123 0.00002
NM_002582.4(PARN):c.1887T>C (p.Pro629=) rs755932317 0.00002
NM_002582.4(PARN):c.327+15T>C rs780508767 0.00002
NM_002582.4(PARN):c.345T>C (p.Phe115=) rs201678082 0.00002
NM_002582.4(PARN):c.34C>T (p.Leu12Phe) rs777848795 0.00002
NM_002582.4(PARN):c.453A>T (p.Ser151=) rs911902351 0.00002
NM_002582.4(PARN):c.458C>T (p.Ala153Val) rs371072064 0.00002
NM_002582.4(PARN):c.512T>C (p.Val171Ala) rs759305419 0.00002
NM_002582.4(PARN):c.515C>T (p.Thr172Met) rs201180499 0.00002
NM_002582.4(PARN):c.55A>G (p.Ile19Val) rs367979521 0.00002
NM_002582.4(PARN):c.665C>T (p.Pro222Leu) rs770353163 0.00002
NM_002582.4(PARN):c.697G>A (p.Glu233Lys) rs1312257752 0.00002
NM_002582.4(PARN):c.703-15C>T rs1026718450 0.00002
NM_002582.4(PARN):c.710G>A (p.Arg237Gln) rs376992177 0.00002
NM_002582.4(PARN):c.783+9G>T rs2508224219 0.00002
NM_002582.4(PARN):c.840+16T>C rs754710092 0.00002
NM_002582.4(PARN):c.876C>T (p.Asp292=) rs759199788 0.00002
NM_002582.4(PARN):c.902A>G (p.Tyr301Cys) rs942688617 0.00002
NM_002582.4(PARN):c.1005+10A>G rs1007818879 0.00001
NM_002582.4(PARN):c.1005+11T>C rs1043027700 0.00001
NM_002582.4(PARN):c.1005+12T>C rs370455325 0.00001
NM_002582.4(PARN):c.1005+17A>G rs953216938 0.00001
NM_002582.4(PARN):c.1019A>G (p.Asn340Ser) rs768793595 0.00001
NM_002582.4(PARN):c.1044G>A (p.Lys348=) rs550419061 0.00001
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658 0.00001
NM_002582.4(PARN):c.104G>C (p.Ser35Thr) rs1972801342 0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser) rs757655633 0.00001
NM_002582.4(PARN):c.1075A>G (p.Lys359Glu) rs192893173 0.00001
NM_002582.4(PARN):c.1081+14A>G rs754175748 0.00001
NM_002582.4(PARN):c.1086T>C (p.Ser362=) rs373433515 0.00001
NM_002582.4(PARN):c.1089C>G (p.Ala363=) rs776536066 0.00001
NM_002582.4(PARN):c.1090G>A (p.Glu364Lys) rs772109946 0.00001
NM_002582.4(PARN):c.1109A>G (p.Asp370Gly) rs1264454543 0.00001
NM_002582.4(PARN):c.1132G>A (p.Glu378Lys) rs761566642 0.00001
NM_002582.4(PARN):c.1148C>G (p.Ala383Gly) rs786200999 0.00001
NM_002582.4(PARN):c.1152C>T (p.Tyr384=) rs781722636 0.00001
NM_002582.4(PARN):c.1161G>A (p.Gly387=) rs1481131348 0.00001
NM_002582.4(PARN):c.1182C>G (p.Ala394=) rs753507535 0.00001
NM_002582.4(PARN):c.1192+14G>A rs748531016 0.00001
NM_002582.4(PARN):c.1192+9T>C rs763317302 0.00001
NM_002582.4(PARN):c.119T>C (p.Val40Ala) rs993681231 0.00001
NM_002582.4(PARN):c.1242C>T (p.Leu414=) rs773361276 0.00001
NM_002582.4(PARN):c.1244T>C (p.Ile415Thr) rs1969492179 0.00001
NM_002582.4(PARN):c.1262+4A>G rs760564467 0.00001
NM_002582.4(PARN):c.1262+6T>C rs1382552508 0.00001
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) rs777090017 0.00001
NM_002582.4(PARN):c.1263-9T>G rs1967642171 0.00001
NM_002582.4(PARN):c.1277G>A (p.Arg426Lys) rs1267290979 0.00001
NM_002582.4(PARN):c.1318+10T>A rs775772184 0.00001
NM_002582.4(PARN):c.1331G>A (p.Arg444His) rs1171017864 0.00001
NM_002582.4(PARN):c.135T>C (p.Asn45=) rs181642805 0.00001
NM_002582.4(PARN):c.1360A>G (p.Lys454Glu) rs1275831280 0.00001
NM_002582.4(PARN):c.136G>A (p.Gly46Ser) rs755459951 0.00001
NM_002582.4(PARN):c.1392T>C (p.Leu464=) rs550989940 0.00001
NM_002582.4(PARN):c.139T>A (p.Phe47Ile) rs1486635297 0.00001
NM_002582.4(PARN):c.1405+17G>C rs751856385 0.00001
NM_002582.4(PARN):c.1416G>C (p.Gln472His) rs766730789 0.00001
NM_002582.4(PARN):c.1427T>C (p.Ile476Thr) rs1221390573 0.00001
NM_002582.4(PARN):c.1430A>G (p.Asp477Gly) rs750925651 0.00001
NM_002582.4(PARN):c.1433A>G (p.Asp478Gly) rs1286216193 0.00001
NM_002582.4(PARN):c.1481-6T>G rs746767566 0.00001
NM_002582.4(PARN):c.1481-8C>T rs1365036366 0.00001
NM_002582.4(PARN):c.1497A>C (p.Lys499Asn) rs1185388930 0.00001
NM_002582.4(PARN):c.1500T>C (p.Tyr500=) rs1596486011 0.00001
NM_002582.4(PARN):c.1514G>A (p.Arg505Gln) rs760452316 0.00001
NM_002582.4(PARN):c.1527T>C (p.Tyr509=) rs752381488 0.00001
NM_002582.4(PARN):c.1530T>G (p.Ala510=) rs767283396 0.00001
NM_002582.4(PARN):c.1531G>A (p.Glu511Lys) rs759381342 0.00001
NM_002582.4(PARN):c.1537A>G (p.Met513Val) rs1963452428 0.00001
NM_002582.4(PARN):c.156G>C (p.Glu52Asp) rs1485405965 0.00001
NM_002582.4(PARN):c.1612C>T (p.Arg538Trp) rs183781022 0.00001
NM_002582.4(PARN):c.1620C>T (p.Asn540=) rs550755432 0.00001
NM_002582.4(PARN):c.1667A>G (p.Asn556Ser) rs762930640 0.00001
NM_002582.4(PARN):c.1671-18C>T rs1053197115 0.00001
NM_002582.4(PARN):c.1671-1G>T rs1271398801 0.00001
NM_002582.4(PARN):c.1684A>G (p.Ser562Gly) rs767471431 0.00001
NM_002582.4(PARN):c.1700G>A (p.Arg567Lys) rs1466683681 0.00001
NM_002582.4(PARN):c.1740C>T (p.Asp580=) rs754436480 0.00001
NM_002582.4(PARN):c.1750G>A (p.Gly584Arg) rs779691333 0.00001
NM_002582.4(PARN):c.177+16A>G rs756765052 0.00001
NM_002582.4(PARN):c.177+20A>G rs1477667575 0.00001
NM_002582.4(PARN):c.177+9A>G rs1644295998 0.00001
NM_002582.4(PARN):c.178-10C>T rs1328915368 0.00001
NM_002582.4(PARN):c.178-3C>T rs1394966197 0.00001
NM_002582.4(PARN):c.1783G>T (p.Asp595Tyr) rs767702074 0.00001
NM_002582.4(PARN):c.1824C>A (p.Ala608=) rs372735495 0.00001
NM_002582.4(PARN):c.1835A>G (p.Lys612Arg) rs1361443338 0.00001
NM_002582.4(PARN):c.1838G>A (p.Arg613Lys) rs1961224378 0.00001
NM_002582.4(PARN):c.184A>G (p.Met62Val) rs756788280 0.00001
NM_002582.4(PARN):c.1864+19C>T rs771533054 0.00001
NM_002582.4(PARN):c.1864+20G>A rs745406192 0.00001
NM_002582.4(PARN):c.1865-16T>C rs777247651 0.00001
NM_002582.4(PARN):c.1865-9T>C rs768874362 0.00001
NM_002582.4(PARN):c.1870A>G (p.Ile624Val) rs535627250 0.00001
NM_002582.4(PARN):c.1895T>G (p.Leu632Arg) rs1960718749 0.00001
NM_002582.4(PARN):c.189C>G (p.Asp63Glu) rs1379319792 0.00001
NM_002582.4(PARN):c.19+17C>T rs943003147 0.00001
NM_002582.4(PARN):c.1900G>A (p.Glu634Lys) rs750721134 0.00001
NM_002582.4(PARN):c.1914A>G (p.Thr638=) rs765213830 0.00001
NM_002582.4(PARN):c.20-16T>G rs1333926333 0.00001
NM_002582.4(PARN):c.20-19C>T rs1214041682 0.00001
NM_002582.4(PARN):c.20-5C>T rs768591192 0.00001
NM_002582.4(PARN):c.20-8C>A rs747888634 0.00001
NM_002582.4(PARN):c.244_245+6dup rs1481415822 0.00001
NM_002582.4(PARN):c.245+3A>G rs1223817351 0.00001
NM_002582.4(PARN):c.250A>G (p.Ile84Val) rs1430004851 0.00001
NM_002582.4(PARN):c.255G>A (p.Thr85=) rs1349142176 0.00001
NM_002582.4(PARN):c.259T>G (p.Ser87Ala) rs754319643 0.00001
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn) rs764315291 0.00001
NM_002582.4(PARN):c.281C>T (p.Pro94Leu) rs1972723198 0.00001
NM_002582.4(PARN):c.282G>A (p.Pro94=) rs1379435273 0.00001
NM_002582.4(PARN):c.296G>C (p.Arg99Thr) rs1212341179 0.00001
NM_002582.4(PARN):c.306A>G (p.Pro102=) rs774805226 0.00001
NM_002582.4(PARN):c.327+10A>G rs773687682 0.00001
NM_002582.4(PARN):c.328-7G>C rs1972011983 0.00001
NM_002582.4(PARN):c.32A>G (p.Asn11Ser) rs754141670 0.00001
NM_002582.4(PARN):c.338T>C (p.Ile113Thr) rs376765477 0.00001
NM_002582.4(PARN):c.350C>G (p.Ala117Gly) rs1972010104 0.00001
NM_002582.4(PARN):c.364G>A (p.Asp122Asn) rs779555557 0.00001
NM_002582.4(PARN):c.382C>T (p.Arg128Ter) rs1318821563 0.00001
NM_002582.4(PARN):c.388+20A>G rs751866970 0.00001
NM_002582.4(PARN):c.388+8T>A rs1442127379 0.00001
NM_002582.4(PARN):c.405T>C (p.Asn135=) rs1396472633 0.00001
NM_002582.4(PARN):c.444A>G (p.Glu148=) rs770605231 0.00001
NM_002582.4(PARN):c.449G>A (p.Arg150His) rs755153974 0.00001
NM_002582.4(PARN):c.468A>G (p.Ala156=) rs758648769 0.00001
NM_002582.4(PARN):c.494A>G (p.Asn165Ser) rs775164255 0.00001
NM_002582.4(PARN):c.496A>G (p.Thr166Ala) rs370388189 0.00001
NM_002582.4(PARN):c.540_554+8dup rs755696071 0.00001
NM_002582.4(PARN):c.555-17C>G rs1971367421 0.00001
NM_002582.4(PARN):c.566A>G (p.Glu189Gly) rs772909619 0.00001
NM_002582.4(PARN):c.573A>T (p.Leu191Phe) rs765326441 0.00001
NM_002582.4(PARN):c.616A>G (p.Thr206Ala) rs548673359 0.00001
NM_002582.4(PARN):c.618C>T (p.Thr206=) rs776536192 0.00001
NM_002582.4(PARN):c.621-20C>G rs1265999446 0.00001
NM_002582.4(PARN):c.621-9T>C rs1487676322 0.00001
NM_002582.4(PARN):c.621G>T (p.Gly207=) rs964560089 0.00001
NM_002582.4(PARN):c.625C>G (p.Gln209Glu) rs190870967 0.00001
NM_002582.4(PARN):c.628A>G (p.Arg210Gly) rs1971317575 0.00001
NM_002582.4(PARN):c.655T>G (p.Trp219Gly) rs1971316192 0.00001
NM_002582.4(PARN):c.662A>G (p.Tyr221Cys) rs778046671 0.00001
NM_002582.4(PARN):c.702+18C>G rs1413060694 0.00001
NM_002582.4(PARN):c.703-13T>C rs537606213 0.00001
NM_002582.4(PARN):c.714T>C (p.Tyr238=) rs1281930960 0.00001
NM_002582.4(PARN):c.726C>T (p.Ser242=) rs548666743 0.00001
NM_002582.4(PARN):c.72C>T (p.Phe24=) rs761469781 0.00001
NM_002582.4(PARN):c.733G>A (p.Asp245Asn) rs1375796074 0.00001
NM_002582.4(PARN):c.746G>A (p.Arg249His) rs775658912 0.00001
NM_002582.4(PARN):c.75C>T (p.Phe25=) rs776309304 0.00001
NM_002582.4(PARN):c.76G>A (p.Ala26Thr) rs768398246 0.00001
NM_002582.4(PARN):c.784-14del rs780187561 0.00001
NM_002582.4(PARN):c.784-15T>C rs1466685577 0.00001
NM_002582.4(PARN):c.784-19T>C rs867919377 0.00001
NM_002582.4(PARN):c.790C>G (p.Leu264Val) rs767707550 0.00001
NM_002582.4(PARN):c.840+13G>T rs747718824 0.00001
NM_002582.4(PARN):c.840+4A>G rs777207121 0.00001
NM_002582.4(PARN):c.853A>G (p.Ile285Val) rs376031010 0.00001
NM_002582.4(PARN):c.865A>G (p.Met289Val) rs780700912 0.00001
NM_002582.4(PARN):c.918+20G>A rs540580233 0.00001
NM_002582.4(PARN):c.918+9C>T rs1970307305 0.00001
NM_002582.4(PARN):c.919-20G>A rs1481971946 0.00001
NM_002582.4(PARN):c.948_949del (p.Val318fs) rs1461036243 0.00001
NM_002582.4(PARN):c.988A>G (p.Ser330Gly) rs775266698 0.00001
NC_000016.10:g.(?_14436697)_(14609143_?)dup
NC_000016.9:g.(?_14530574)_(14530649_?)dup
NC_000016.9:g.(?_14530574)_(14540958_?)dup
NC_000016.9:g.(?_14530574)_(14576704_?)dup
NC_000016.9:g.(?_14530574)_(14724045_?)del
NC_000016.9:g.(?_14530574)_(14724045_?)dup
NC_000016.9:g.(?_14540725)_(14576704_?)dup
NC_000016.9:g.(?_14645858)_(14649586_?)dup
NC_000016.9:g.(?_14645858)_(14711527_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)dup
NC_000016.9:g.(?_14645868)_(14711517_?)dup
NC_000016.9:g.(?_14674711)_(14724002_?)dup
NC_000016.9:g.(?_14693741)_(14700403_?)del
NC_000016.9:g.(?_14693741)_(14704686_?)dup
NC_000016.9:g.(?_14693751)_(14724045_?)dup
NC_000016.9:g.(?_14704491)_(14704676_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)dup
NC_000016.9:g.(?_14711427)_(14724045_?)del
NC_000016.9:g.(?_14711427)_(14724045_?)dup
NC_000016.9:g.(?_14720953)_(14721203_?)del
NC_000016.9:g.(?_14723944)_(14724045_?)dup
NM_002582.4(PARN):c.1005+2T>A rs2507867198
NM_002582.4(PARN):c.1005+7T>A rs745655525
NM_002582.4(PARN):c.1005+7T>C rs745655525
NM_002582.4(PARN):c.1006-15C>A rs775075978
NM_002582.4(PARN):c.1006-8G>A
NM_002582.4(PARN):c.1016ACA[1] (p.Asn340del) rs2151754075
NM_002582.4(PARN):c.1020C>T (p.Asn340=) rs1476494198
NM_002582.4(PARN):c.1026C>T (p.Ser342=) rs1187288468
NM_002582.4(PARN):c.1036T>C (p.Leu346=) rs779193378
NM_002582.4(PARN):c.1046G>T (p.Arg349Leu) rs201053607
NM_002582.4(PARN):c.1052A>C (p.Lys351Thr) rs2507860281
NM_002582.4(PARN):c.1055A>G (p.Glu352Gly) rs2507860242
NM_002582.4(PARN):c.1064del (p.Phe355fs)
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr) rs767096267
NM_002582.4(PARN):c.1075A>C (p.Lys359Gln) rs192893173
NM_002582.4(PARN):c.1078G>T (p.Val360Phe) rs1969710831
NM_002582.4(PARN):c.1079T>C (p.Val360Ala) rs2507859752
NM_002582.4(PARN):c.1081+13A>C rs2507859504
NM_002582.4(PARN):c.1081+18G>A rs2507859369
NM_002582.4(PARN):c.1081+19A>C rs2151753956
NM_002582.4(PARN):c.1081+3A>G rs2507859687
NM_002582.4(PARN):c.1082-20T>G rs1328215893
NM_002582.4(PARN):c.1082-6T>C
NM_002582.4(PARN):c.1082-6dup rs763461320
NM_002582.4(PARN):c.1089C>T (p.Ala363=) rs776536066
NM_002582.4(PARN):c.1094G>T (p.Gly365Val) rs1452851028
NM_002582.4(PARN):c.1110C>T (p.Asp370=) rs2507837319
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter) rs1380270401
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) rs1969578006
NM_002582.4(PARN):c.112C>T (p.Pro38Ser) rs1972800939
NM_002582.4(PARN):c.113C>T (p.Pro38Leu) rs1972800795
NM_002582.4(PARN):c.1142A>G (p.Tyr381Cys) rs2507836777
NM_002582.4(PARN):c.1149C>G (p.Ala383=) rs770262812
NM_002582.4(PARN):c.1159G>A (p.Gly387Arg)
NM_002582.4(PARN):c.1168T>G (p.Phe390Val) rs2507835947
NM_002582.4(PARN):c.1169T>G (p.Phe390Cys) rs2507835909
NM_002582.4(PARN):c.116C>T (p.Ser39Leu) rs1398756916
NM_002582.4(PARN):c.1171A>G (p.Ile391Val) rs765070513
NM_002582.4(PARN):c.1172T>C (p.Ile391Thr)
NM_002582.4(PARN):c.1177A>C (p.Met393Leu) rs1216169026
NM_002582.4(PARN):c.1178T>C (p.Met393Thr) rs2507835595
NM_002582.4(PARN):c.1189C>T (p.Leu397=) rs1031462589
NM_002582.4(PARN):c.1192+12A>G
NM_002582.4(PARN):c.1192+19T>C rs1174995830
NM_002582.4(PARN):c.1192+5G>A rs144238272
NM_002582.4(PARN):c.1192+5G>C rs144238272
NM_002582.4(PARN):c.1193-10del rs1969497124
NM_002582.4(PARN):c.1193-12T>G rs1969497293
NM_002582.4(PARN):c.1193-14C>A rs2507818858
NM_002582.4(PARN):c.1193-14_1193-12del
NM_002582.4(PARN):c.1193-15T>G rs1969497448
NM_002582.4(PARN):c.1193-16T>C rs1969497587
NM_002582.4(PARN):c.1193-5A>G
NM_002582.4(PARN):c.1193G>T (p.Gly398Val) rs1447922914
NM_002582.4(PARN):c.1200T>A (p.Phe400Leu) rs1181755378
NM_002582.4(PARN):c.1203C>T (p.Leu401=) rs2151749171
NM_002582.4(PARN):c.1206C>T (p.Ser402=) rs2507818306
NM_002582.4(PARN):c.1216A>C (p.Ile406Leu) rs1205344643
NM_002582.4(PARN):c.1219C>G (p.His407Asp) rs1596738260
NM_002582.4(PARN):c.1222G>C (p.Val408Leu) rs2507817782
NM_002582.4(PARN):c.122C>G (p.Ser41Cys)
NM_002582.4(PARN):c.122C>T (p.Ser41Phe) rs1433689115
NM_002582.4(PARN):c.122_123del (p.Ser41fs) rs2508640323
NM_002582.4(PARN):c.1230C>G (p.Ala410=) rs1248602970
NM_002582.4(PARN):c.1239A>G (p.Lys413=)
NM_002582.4(PARN):c.1249C>A (p.Pro417Thr) rs765573306
NM_002582.4(PARN):c.1257T>C (p.Phe419=) rs2507817022
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.125C>T (p.Ala42Val) rs1972799374
NM_002582.4(PARN):c.1262+19C>G rs527316482
NM_002582.4(PARN):c.1262+19C>T
NM_002582.4(PARN):c.1262+2T>C rs2507816770
NM_002582.4(PARN):c.1262+3A>G rs1352347424
NM_002582.4(PARN):c.1262+8A>G rs1969490477
NM_002582.4(PARN):c.1262+9T>G rs1969490324
NM_002582.4(PARN):c.1263-11_1269del rs2151711045
NM_002582.4(PARN):c.1263-19T>C rs2507558953
NM_002582.4(PARN):c.1263-1G>A
NM_002582.4(PARN):c.1263-4G>A
NM_002582.4(PARN):c.1263-7C>T rs2151711061
NM_002582.4(PARN):c.1278G>T (p.Arg426Ser)
NM_002582.4(PARN):c.1279G>A (p.Val427Ile) rs762139840
NM_002582.4(PARN):c.1282A>G (p.Met428Val) rs1967640251
NM_002582.4(PARN):c.1297C>A (p.Leu433Ile) rs201782700
NM_002582.4(PARN):c.1297C>G (p.Leu433Val) rs201782700
NM_002582.4(PARN):c.1299A>C (p.Leu433=) rs2507557682
NM_002582.4(PARN):c.1317C>G (p.Asp439Glu) rs2151710973
NM_002582.4(PARN):c.1318+2T>C rs2507557254
NM_002582.4(PARN):c.1318T>C (p.Leu440=)
NM_002582.4(PARN):c.1319-12T>C
NM_002582.4(PARN):c.1319-15A>G
NM_002582.4(PARN):c.1319-17A>G rs892579157
NM_002582.4(PARN):c.1319-2_1319del
NM_002582.4(PARN):c.1319-4G>T rs760900593
NM_002582.4(PARN):c.1319T>C (p.Leu440Ser) rs1967506241
NM_002582.4(PARN):c.1323G>A (p.Gln441=)
NM_002582.4(PARN):c.1335T>C (p.Asp445=) rs1463679404
NM_002582.4(PARN):c.1337A>G (p.His446Arg)
NM_002582.4(PARN):c.1338T>C (p.His446=) rs2151708615
NM_002582.4(PARN):c.1339G>A (p.Val447Ile)
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala) rs984383174
NM_002582.4(PARN):c.1354T>G (p.Phe452Val)
NM_002582.4(PARN):c.1358C>A (p.Pro453His) rs1967502478
NM_002582.4(PARN):c.1363G>T (p.Glu455Ter)
NM_002582.4(PARN):c.1365A>G (p.Glu455=) rs1052939058
NM_002582.4(PARN):c.1374C>G (p.Thr458=) rs747799643
NM_002582.4(PARN):c.1374C>T (p.Thr458=)
NM_002582.4(PARN):c.1378G>A (p.Asp460Asn) rs747006604
NM_002582.4(PARN):c.1385A>G (p.Tyr462Cys) rs1967500569
NM_002582.4(PARN):c.1396A>T (p.Ser466Cys) rs1292994814
NM_002582.4(PARN):c.1405+10A>C
NM_002582.4(PARN):c.1405+13T>G rs755334130
NM_002582.4(PARN):c.1405+1G>T rs1288345334
NM_002582.4(PARN):c.1405+8G>C rs373527624
NM_002582.4(PARN):c.1405+9C>T rs2507540695
NM_002582.4(PARN):c.1406-11T>G rs1967342646
NM_002582.4(PARN):c.1406-18T>G
NM_002582.4(PARN):c.1410C>T (p.Asn470=) rs2507523998
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter) rs751946182
NM_002582.4(PARN):c.1417A>T (p.Ile473Leu)
NM_002582.4(PARN):c.1421C>T (p.Ser474Phe) rs1967339819
NM_002582.4(PARN):c.1440A>G (p.Ser480=)
NM_002582.4(PARN):c.1456A>G (p.Ser486Gly) rs753338523
NM_002582.4(PARN):c.145A>G (p.Thr49Ala) rs1972796818
NM_002582.4(PARN):c.1462C>T (p.Pro488Ser)
NM_002582.4(PARN):c.1469A>G (p.Gln490Arg) rs2151705664
NM_002582.4(PARN):c.146C>T (p.Thr49Ile) rs2508639741
NM_002582.4(PARN):c.1473A>C (p.Val491=)
NM_002582.4(PARN):c.1473A>G (p.Val491=) rs1967336524
NM_002582.4(PARN):c.1474A>C (p.Lys492Gln) rs759449443
NM_002582.4(PARN):c.1480+13G>A rs2151705615
NM_002582.4(PARN):c.1481-14del rs748039977
NM_002582.4(PARN):c.1481-14dup rs748039977
NM_002582.4(PARN):c.1481-19T>G
NM_002582.4(PARN):c.1481-1G>A rs1412358291
NM_002582.4(PARN):c.1481-2A>G
NM_002582.4(PARN):c.1481-7C>T rs1319209697
NM_002582.4(PARN):c.1483G>A (p.Val495Ile) rs2506917635
NM_002582.4(PARN):c.1490C>A (p.Thr497Asn)
NM_002582.4(PARN):c.1490C>T (p.Thr497Ile) rs1963456314
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
NM_002582.4(PARN):c.1502C>T (p.Ala501Val)
NM_002582.4(PARN):c.1511A>G (p.Tyr504Cys) rs1181154287
NM_002582.4(PARN):c.152A>G (p.Glu51Gly) rs2508639624
NM_002582.4(PARN):c.1536del (p.Glu511_Tyr512insTer)
NM_002582.4(PARN):c.1539G>A (p.Met513Ile) rs1301681511
NM_002582.4(PARN):c.1544_1545delinsTT (p.Arg515Ile) rs2151597307
NM_002582.4(PARN):c.1545A>G (p.Arg515=) rs2151597304
NM_002582.4(PARN):c.154G>C (p.Glu52Gln) rs2151824669
NM_002582.4(PARN):c.1559A>G (p.Lys520Arg)
NM_002582.4(PARN):c.1577G>A (p.Trp526Ter)
NM_002582.4(PARN):c.1581T>G (p.Thr527=) rs2151597266
NM_002582.4(PARN):c.1584A>C (p.Glu528Asp)
NM_002582.4(PARN):c.15_17del (p.Arg5del) rs2508672236
NM_002582.4(PARN):c.1600G>A (p.Ala534Thr) rs2506915281
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter) rs745696590
NM_002582.4(PARN):c.1625A>G (p.Gln542Arg)
NM_002582.4(PARN):c.1627T>C (p.Cys543Arg) rs2151597189
NM_002582.4(PARN):c.1630A>C (p.Ile544Leu) rs779379622
NM_002582.4(PARN):c.1635_1643del (p.Tyr546_Leu548del) rs2151597160
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter) rs2506913635
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys) rs1368350204
NM_002582.4(PARN):c.1652A>C (p.His551Pro) rs2151597154
NM_002582.4(PARN):c.1659C>T (p.Tyr553=)
NM_002582.4(PARN):c.1661G>A (p.Arg554His) rs372489171
NM_002582.4(PARN):c.1661G>T (p.Arg554Leu) rs372489171
NM_002582.4(PARN):c.1668T>C (p.Asn556=) rs2506912723
NM_002582.4(PARN):c.1670+12C>T rs2506912322
NM_002582.4(PARN):c.1670+13A>G rs2151597090
NM_002582.4(PARN):c.1670+17G>A rs116427010
NM_002582.4(PARN):c.1670+17G>T rs116427010
NM_002582.4(PARN):c.1670+1G>T rs1963445391
NM_002582.4(PARN):c.1670+20A>G rs2506912163
NM_002582.4(PARN):c.1670+5G>C rs2506912533
NM_002582.4(PARN):c.1671-17C>T rs750157587
NM_002582.4(PARN):c.1673T>G (p.Phe558Cys) rs2506562387
NM_002582.4(PARN):c.1674T>C (p.Phe558=) rs2151557113
NM_002582.4(PARN):c.1678G>A (p.Ala560Thr) rs2506562274
NM_002582.4(PARN):c.1692A>G (p.Val564=) rs1596433626
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.169C>T (p.Leu57Phe)
NM_002582.4(PARN):c.1702A>G (p.Asn568Asp) rs2506561614
NM_002582.4(PARN):c.1707G>T (p.Leu569Phe) rs2506561504
NM_002582.4(PARN):c.170T>C (p.Leu57Pro) rs2151824639
NM_002582.4(PARN):c.1715G>A (p.Ser572Asn) rs1024969576
NM_002582.4(PARN):c.1719A>G (p.Gln573=) rs2506561301
NM_002582.4(PARN):c.1727C>G (p.Ala576Gly)
NM_002582.4(PARN):c.1751G>A (p.Gly584Glu) rs1961230542
NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr) rs750247455
NM_002582.4(PARN):c.1764C>T (p.Asp588=) rs2506560255
NM_002582.4(PARN):c.177+11G>A rs2508639013
NM_002582.4(PARN):c.177+15T>C rs2508638940
NM_002582.4(PARN):c.177+1G>A
NM_002582.4(PARN):c.177+1del rs2508639104
NM_002582.4(PARN):c.1773T>C (p.Leu591=) rs528847015
NM_002582.4(PARN):c.1779G>T (p.Gln593His) rs1384912048
NM_002582.4(PARN):c.178-17T>A
NM_002582.4(PARN):c.178-5T>G rs1972739623
NM_002582.4(PARN):c.1781C>A (p.Thr594Asn) rs2506559956
NM_002582.4(PARN):c.1782C>G (p.Thr594=) rs187555579
NM_002582.4(PARN):c.1783G>A (p.Asp595Asn) rs767702074
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg) rs1596433239
NM_002582.4(PARN):c.1796A>G (p.Glu599Gly) rs2151556910
NM_002582.4(PARN):c.1806A>T (p.Ser602=) rs2151556891
NM_002582.4(PARN):c.1817A>G (p.Lys606Arg) rs2506559197
NM_002582.4(PARN):c.1818A>G (p.Lys606=) rs1331268805
NM_002582.4(PARN):c.1840A>G (p.Met614Val) rs2506558657
NM_002582.4(PARN):c.1841T>C (p.Met614Thr) rs1961224273
NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup) rs1961223739
NM_002582.4(PARN):c.1850A>T (p.Glu617Val) rs1340012887
NM_002582.4(PARN):c.1851G>A (p.Glu617=) rs1961223168
NM_002582.4(PARN):c.1858C>T (p.Pro620Ser) rs1035446181
NM_002582.4(PARN):c.1864+11G>C
NM_002582.4(PARN):c.1864+12A>T
NM_002582.4(PARN):c.1864+14C>T rs2506557735
NM_002582.4(PARN):c.1864+19C>G rs771533054
NM_002582.4(PARN):c.1864+20G>C rs745406192
NM_002582.4(PARN):c.1864+5G>T rs1371440341
NM_002582.4(PARN):c.1864+9T>C rs2151556782
NM_002582.4(PARN):c.1865-6C>G rs2506454454
NM_002582.4(PARN):c.1865-9del rs2506454602
NM_002582.4(PARN):c.1865G>A (p.Gly622Glu) rs1567278518
NM_002582.4(PARN):c.1875G>C (p.Ser625=) rs370090572
NM_002582.4(PARN):c.1878G>T (p.Lys626Asn)
NM_002582.4(PARN):c.1881C>A (p.Asn627Lys) rs777806186
NM_002582.4(PARN):c.1881C>G (p.Asn627Lys) rs777806186
NM_002582.4(PARN):c.1892C>G (p.Thr631Arg) rs369208675
NM_002582.4(PARN):c.18C>G (p.Ser6Arg)
NM_002582.4(PARN):c.19+11G>A rs1171431217
NM_002582.4(PARN):c.19+14_19+28del rs2151827636
NM_002582.4(PARN):c.19+20C>G rs2508671674
NM_002582.4(PARN):c.19+3G>A rs2508672127
NM_002582.4(PARN):c.1911C>A (p.Asp637Glu) rs1187086940
NM_002582.4(PARN):c.1915T>C (p.Trp639Arg) rs1171761147
NM_002582.4(PARN):c.1916G>A (p.Trp639Ter) rs1960716266
NM_002582.4(PARN):c.192T>G (p.Phe64Leu) rs1403598118
NM_002582.4(PARN):c.193T>A (p.Leu65Met) rs2508628676
NM_002582.4(PARN):c.198A>G (p.Leu66=) rs562694645
NM_002582.4(PARN):c.20-10T>A rs1972909220
NM_002582.4(PARN):c.20-14C>T rs996455976
NM_002582.4(PARN):c.20-20T>A rs2151826943
NM_002582.4(PARN):c.20-20T>C rs2151826943
NM_002582.4(PARN):c.20-8C>T rs747888634
NM_002582.4(PARN):c.201T>G (p.Phe67Leu) rs2508628442
NM_002582.4(PARN):c.204G>A (p.Gln68=)
NM_002582.4(PARN):c.20A>C (p.Asn7Thr) rs2508661176
NM_002582.4(PARN):c.210C>A (p.Gly70=) rs748166497
NM_002582.4(PARN):c.218C>T (p.Thr73Ile) rs2151823476
NM_002582.4(PARN):c.227A>G (p.Tyr76Cys) rs752306700
NM_002582.4(PARN):c.233A>G (p.Tyr78Cys)
NM_002582.4(PARN):c.242C>T (p.Ser81Leu) rs1972734077
NM_002582.4(PARN):c.243A>G (p.Ser81=)
NM_002582.4(PARN):c.245+10_245+34del rs2508626765
NM_002582.4(PARN):c.245+15C>G rs372872068
NM_002582.4(PARN):c.245+20G>A rs377105548
NM_002582.4(PARN):c.245+20G>T rs377105548
NM_002582.4(PARN):c.245+8G>T rs373621294
NM_002582.4(PARN):c.246-4C>A rs1217221773
NM_002582.4(PARN):c.246-4C>G rs1217221773
NM_002582.4(PARN):c.246-5C>T rs1972726752
NM_002582.4(PARN):c.246-6T>C rs2508625774
NM_002582.4(PARN):c.246-8T>C rs1302260953
NM_002582.4(PARN):c.249T>C (p.Tyr83=) rs2508625464
NM_002582.4(PARN):c.24dup (p.Lys9Ter)
NM_002582.4(PARN):c.254C>G (p.Thr85Arg) rs139959455
NM_002582.4(PARN):c.254C>T (p.Thr85Met) rs139959455
NM_002582.4(PARN):c.270C>T (p.Phe90=) rs1972724336
NM_002582.4(PARN):c.272A>T (p.Tyr91Phe) rs201765587
NM_002582.4(PARN):c.278T>C (p.Phe93Ser) rs2508624866
NM_002582.4(PARN):c.288C>T (p.Pro96=) rs2151823197
NM_002582.4(PARN):c.293A>G (p.Asn98Ser)
NM_002582.4(PARN):c.294T>C (p.Asn98=)
NM_002582.4(PARN):c.298T>A (p.Ser100Thr) rs2508624340
NM_002582.4(PARN):c.299C>A (p.Ser100Tyr) rs759622779
NM_002582.4(PARN):c.305dup (p.Asp103fs)
NM_002582.4(PARN):c.308A>T (p.Asp103Val) rs1225169468
NM_002582.4(PARN):c.314A>G (p.Lys105Arg) rs1213898858
NM_002582.4(PARN):c.319G>A (p.Val107Ile) rs1338274189
NM_002582.4(PARN):c.323G>T (p.Cys108Phe)
NM_002582.4(PARN):c.327+3A>C
NM_002582.4(PARN):c.328-10T>C rs2151808861
NM_002582.4(PARN):c.328-17T>G rs2508495631
NM_002582.4(PARN):c.328-2A>G rs2508495416
NM_002582.4(PARN):c.336C>A (p.Ser112Arg) rs2508495101
NM_002582.4(PARN):c.338T>A (p.Ile113Asn) rs376765477
NM_002582.4(PARN):c.351A>C (p.Ala117=)
NM_002582.4(PARN):c.351_352dup (p.Ser118fs)
NM_002582.4(PARN):c.358G>A (p.Gly120Arg) rs1596886075
NM_002582.4(PARN):c.35T>A (p.Leu12His)
NM_002582.4(PARN):c.364G>C (p.Asp122His) rs779555557
NM_002582.4(PARN):c.37C>T (p.His13Tyr) rs756570032
NM_002582.4(PARN):c.388+11G>A rs2508493834
NM_002582.4(PARN):c.388+13G>A rs781377090
NM_002582.4(PARN):c.388+6A>T rs2508493942
NM_002582.4(PARN):c.388G>A (p.Gly130Arg) rs753682634
NM_002582.4(PARN):c.389-13A>C rs2508395790
NM_002582.4(PARN):c.389-15T>A rs1297092988
NM_002582.4(PARN):c.389-19T>C rs768266740
NM_002582.4(PARN):c.389-9C>T rs1467886184
NM_002582.4(PARN):c.391A>G (p.Ile131Val) rs2508395522
NM_002582.4(PARN):c.394C>G (p.Pro132Ala) rs2508395454
NM_002582.4(PARN):c.396A>G (p.Pro132=) rs1971479823
NM_002582.4(PARN):c.403A>G (p.Asn135Asp) rs1971479669
NM_002582.4(PARN):c.417_420del (p.Glu139fs) rs2151797695
NM_002582.4(PARN):c.418A>G (p.Arg140Gly) rs778885248
NM_002582.4(PARN):c.434A>C (p.Gln145Pro) rs1195236338
NM_002582.4(PARN):c.459G>C (p.Ala153=) rs960463679
NM_002582.4(PARN):c.465T>C (p.Gly155=) rs1555508032
NM_002582.4(PARN):c.466G>A (p.Ala156Thr) rs200103366
NM_002582.4(PARN):c.467C>T (p.Ala156Val) rs1341620972
NM_002582.4(PARN):c.470G>A (p.Gly157Glu) rs750612864
NM_002582.4(PARN):c.471A>C (p.Gly157=) rs2508392800
NM_002582.4(PARN):c.473C>G (p.Ala158Gly) rs2508392677
NM_002582.4(PARN):c.47A>G (p.Tyr16Cys) rs975983337
NM_002582.4(PARN):c.480C>T (p.Ser160=) rs2151797611
NM_002582.4(PARN):c.495C>T (p.Asn165=) rs2508391574
NM_002582.4(PARN):c.504A>G (p.Lys168=) rs1259011890
NM_002582.4(PARN):c.514A>C (p.Thr172Pro)
NM_002582.4(PARN):c.51G>C (p.Gln17His) rs2508659844
NM_002582.4(PARN):c.520C>A (p.Pro174Thr) rs2508390647
NM_002582.4(PARN):c.523G>A (p.Glu175Lys)
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.543T>G (p.Ile181Met) rs2508389732
NM_002582.4(PARN):c.546C>T (p.Asp182=)
NM_002582.4(PARN):c.54C>T (p.Ala18=) rs2151826842
NM_002582.4(PARN):c.550G>A (p.Val184Met) rs1971469690
NM_002582.4(PARN):c.551T>G (p.Val184Gly) rs2508389452
NM_002582.4(PARN):c.554+19A>G rs1971468748
NM_002582.4(PARN):c.554+20C>T rs2508388908
NM_002582.4(PARN):c.554T>C (p.Val185Ala)
NM_002582.4(PARN):c.555-14T>C rs2151795461
NM_002582.4(PARN):c.555-16T>A rs2508357980
NM_002582.4(PARN):c.555-2A>G rs2151795442
NM_002582.4(PARN):c.555-3C>T rs1280911538
NM_002582.4(PARN):c.555-6C>T rs2508357797
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.569A>G (p.Asp190Gly) rs769599205
NM_002582.4(PARN):c.57A>G (p.Ile19Met) rs1972904968
NM_002582.4(PARN):c.581G>A (p.Ser194Asn) rs374622245
NM_002582.4(PARN):c.587A>C (p.Glu196Ala) rs1971364381
NM_002582.4(PARN):c.591C>T (p.Asn197=) rs1404784477
NM_002582.4(PARN):c.59A>G (p.Glu20Gly) rs2151826832
NM_002582.4(PARN):c.600G>C (p.Leu200Phe) rs2508356217
NM_002582.4(PARN):c.606A>G (p.Leu202=) rs2508356106
NM_002582.4(PARN):c.612A>G (p.Pro204=)
NM_002582.4(PARN):c.620+15A>G rs745949104
NM_002582.4(PARN):c.620+16C>T
NM_002582.4(PARN):c.620+3_620+4delinsAG rs1971361914
NM_002582.4(PARN):c.620+5G>A rs1971361795
NM_002582.4(PARN):c.620+9T>C rs1971361518
NM_002582.4(PARN):c.621-11T>C rs762551577
NM_002582.4(PARN):c.621-22_621-18del rs2151794051
NM_002582.4(PARN):c.621-4A>G rs2151794031
NM_002582.4(PARN):c.635T>C (p.Leu212Pro)
NM_002582.4(PARN):c.643C>T (p.Gln215Ter)
NM_002582.4(PARN):c.644A>G (p.Gln215Arg)
NM_002582.4(PARN):c.657G>A (p.Trp219Ter) rs1363931577
NM_002582.4(PARN):c.659+12T>C rs2151793951
NM_002582.4(PARN):c.659+18A>T rs2508333515
NM_002582.4(PARN):c.659+2dup rs2508334491
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.660-10T>C
NM_002582.4(PARN):c.660-11C>G rs2508285501
NM_002582.4(PARN):c.660-3dup rs1479090396
NM_002582.4(PARN):c.660-9T>G rs2508285406
NM_002582.4(PARN):c.664C>G (p.Pro222Ala) rs1971195178
NM_002582.4(PARN):c.665C>G (p.Pro222Arg) rs770353163
NM_002582.4(PARN):c.666G>C (p.Pro222=) rs186335640
NM_002582.4(PARN):c.666G>T (p.Pro222=) rs186335640
NM_002582.4(PARN):c.669A>G (p.Lys223=) rs1179771709
NM_002582.4(PARN):c.671G>A (p.Gly224Asp) rs2508283975
NM_002582.4(PARN):c.684G>A (p.Glu228=) rs2508283215
NM_002582.4(PARN):c.689T>C (p.Leu230Ser) rs779477840
NM_002582.4(PARN):c.702+10A>G
NM_002582.4(PARN):c.702+13A>G rs1889562135
NM_002582.4(PARN):c.702+17T>C rs2508281484
NM_002582.4(PARN):c.702+20A>G rs2508281447
NM_002582.4(PARN):c.703-11_703-10del rs1185087862
NM_002582.4(PARN):c.703-18C>G rs758764619
NM_002582.4(PARN):c.703-3dup rs1216240306
NM_002582.4(PARN):c.703-7C>G rs1220303511
NM_002582.4(PARN):c.707A>G (p.Glu236Gly) rs1971049608
NM_002582.4(PARN):c.707A>T (p.Glu236Val) rs1971049608
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.70T>C (p.Phe24Leu) rs2508659334
NM_002582.4(PARN):c.712T>C (p.Tyr238His) rs1330990528
NM_002582.4(PARN):c.713dup (p.Tyr238Ter) rs1971048225
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer) rs2508228130
NM_002582.4(PARN):c.715A>G (p.Ile239Val)
NM_002582.4(PARN):c.718G>A (p.Val240Ile) rs2508227797
NM_002582.4(PARN):c.718G>C (p.Val240Leu)
NM_002582.4(PARN):c.724A>G (p.Ser242Gly) rs2151787480
NM_002582.4(PARN):c.729A>C (p.Lys243Asn) rs1172901128
NM_002582.4(PARN):c.734A>G (p.Asp245Gly) rs1195772798
NM_002582.4(PARN):c.736G>A (p.Glu246Lys)
NM_002582.4(PARN):c.736GAA[2] (p.Glu248del) rs1356133158
NM_002582.4(PARN):c.746G>C (p.Arg249Pro) rs775658912
NM_002582.4(PARN):c.748A>C (p.Lys250Gln) rs772655570
NM_002582.4(PARN):c.749A>G (p.Lys250Arg) rs1258568177
NM_002582.4(PARN):c.751A>G (p.Arg251Gly) rs2508226037
NM_002582.4(PARN):c.755G>A (p.Arg252Lys)
NM_002582.4(PARN):c.755G>C (p.Arg252Thr)
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_002582.4(PARN):c.761A>T (p.Gln254Leu) rs2508225439
NM_002582.4(PARN):c.762G>A (p.Gln254=)
NM_002582.4(PARN):c.782A>G (p.Gln261Arg)
NM_002582.4(PARN):c.783+11T>C rs2508224076
NM_002582.4(PARN):c.783+15T>C rs2151787317
NM_002582.4(PARN):c.783+4A>C rs1317955775
NM_002582.4(PARN):c.783+4A>T rs1317955775
NM_002582.4(PARN):c.783+5T>C rs2151787329
NM_002582.4(PARN):c.783G>A (p.Gln261=) rs1261797823
NM_002582.4(PARN):c.784-16A>T rs2508125463
NM_002582.4(PARN):c.784-1G>A rs1970777169
NM_002582.4(PARN):c.787G>C (p.Glu263Gln)
NM_002582.4(PARN):c.787_788delinsTT (p.Glu263Leu) rs2508124457
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.804G>C (p.Val268=) rs2151779883
NM_002582.4(PARN):c.823C>G (p.His275Asp) rs764385694
NM_002582.4(PARN):c.826G>A (p.Ala276Thr)
NM_002582.4(PARN):c.830T>G (p.Ile277Ser) rs2508122780
NM_002582.4(PARN):c.839C>T (p.Ser280Leu) rs774827522
NM_002582.4(PARN):c.840+8A>C rs2508122129
NM_002582.4(PARN):c.841-17A>C rs2507962221
NM_002582.4(PARN):c.841-2A>G rs2151767204
NM_002582.4(PARN):c.841-3T>A
NM_002582.4(PARN):c.841-7T>G rs772743842
NM_002582.4(PARN):c.841-8T>G
NM_002582.4(PARN):c.842G>A (p.Gly281Glu) rs1016593820
NM_002582.4(PARN):c.851T>G (p.Val284Gly) rs1970312523
NM_002582.4(PARN):c.854T>C (p.Ile285Thr) rs1970312112
NM_002582.4(PARN):c.866T>C (p.Met289Thr) rs369267769
NM_002582.4(PARN):c.867G>A (p.Met289Ile) rs1176408023
NM_002582.4(PARN):c.872T>G (p.Leu291Trp)
NM_002582.4(PARN):c.889G>A (p.Val297Ile)
NM_002582.4(PARN):c.904T>C (p.Cys302Arg) rs2507959725
NM_002582.4(PARN):c.908C>G (p.Pro303Arg) rs1211898404
NM_002582.4(PARN):c.909T>C (p.Pro303=) rs2507959621
NM_002582.4(PARN):c.910C>G (p.Leu304Val)
NM_002582.4(PARN):c.912G>A (p.Leu304=) rs1970307733
NM_002582.4(PARN):c.912G>C (p.Leu304=)
NM_002582.4(PARN):c.918+12G>T rs767639160
NM_002582.4(PARN):c.918+15G>A rs2507959065
NM_002582.4(PARN):c.918+4A>G rs2507959331
NM_002582.4(PARN):c.918G>A (p.Ala306=) rs2151767064
NM_002582.4(PARN):c.919-3T>C rs2151757180
NM_002582.4(PARN):c.919-5T>A rs1969855483
NM_002582.4(PARN):c.919-6C>G
NM_002582.4(PARN):c.919-9G>C rs535395736
NM_002582.4(PARN):c.919G>A (p.Asp307Asn) rs755489002
NM_002582.4(PARN):c.924A>C (p.Leu308Phe) rs1336426171
NM_002582.4(PARN):c.925del (p.Ser309fs)
NM_002582.4(PARN):c.927T>C (p.Ser309=) rs2151757158
NM_002582.4(PARN):c.930G>A (p.Glu310=) rs1596758654
NM_002582.4(PARN):c.937G>A (p.Glu313Lys) rs2151757148
NM_002582.4(PARN):c.952G>A (p.Val318Ile) rs2507885532
NM_002582.4(PARN):c.962+12T>A rs1166434181
NM_002582.4(PARN):c.962+16G>C rs1424080800
NM_002582.4(PARN):c.962+9T>C
NM_002582.4(PARN):c.963-11del rs756034248
NM_002582.4(PARN):c.963-18G>A rs1969746233
NM_002582.4(PARN):c.963-19_963-3del rs752630850
NM_002582.4(PARN):c.966C>T (p.Leu322=) rs763666862
NM_002582.4(PARN):c.97+16A>T
NM_002582.4(PARN):c.97+2T>C rs2508658475
NM_002582.4(PARN):c.97+7del rs2508658378
NM_002582.4(PARN):c.97+9C>G rs746984542
NM_002582.4(PARN):c.97+9C>T rs746984542
NM_002582.4(PARN):c.97+9_97+12del rs1277830010
NM_002582.4(PARN):c.973A>G (p.Thr325Ala)
NM_002582.4(PARN):c.98-12C>G rs2151824794
NM_002582.4(PARN):c.98-14T>C rs775477610
NM_002582.4(PARN):c.98-5T>A rs2508640836
NM_002582.4(PARN):c.980T>C (p.Leu327Ser)
NM_002582.4(PARN):c.993A>G (p.Thr331=) rs2151754690
NM_002582.4(PARN):c.994C>T (p.Gln332Ter) rs2507867448
NM_002582.4(PARN):c.997C>A (p.Pro333Thr)
NM_002582.4(PARN):c.9A>T (p.Ile3=) rs1359611593

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