ClinVar Miner

List of variants in gene PACS1 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 583
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HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_018026.4(PACS1):c.1199+16T>C rs61890329 0.01236
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00414
NM_018026.4(PACS1):c.534+13T>C rs138009664 0.00375
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_018026.4(PACS1):c.2581C>T (p.Leu861=) rs201326960 0.00083
NM_018026.4(PACS1):c.1731+18G>A rs560600114 0.00066
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_018026.4(PACS1):c.631T>C (p.Leu211=) rs151082834 0.00035
NM_018026.4(PACS1):c.1838+9T>C rs145783184 0.00034
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_018026.4(PACS1):c.1881T>C (p.Ala627=) rs550567165 0.00027
NM_018026.4(PACS1):c.1839-19C>T rs201219981 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076 0.00024
NM_018026.4(PACS1):c.2593G>C (p.Gly865Arg) rs202231158 0.00018
NM_018026.4(PACS1):c.2358G>A (p.Ser786=) rs200716334 0.00017
NM_018026.4(PACS1):c.2178C>T (p.Ala726=) rs138700761 0.00016
NM_018026.4(PACS1):c.573G>A (p.Gln191=) rs142927052 0.00016
NM_018026.4(PACS1):c.399A>G (p.Glu133=) rs924931141 0.00015
NM_018026.4(PACS1):c.909C>T (p.Tyr303=) rs141541494 0.00015
NM_018026.4(PACS1):c.1732-14C>A rs772623452 0.00014
NM_018026.4(PACS1):c.535-5C>T rs144180500 0.00014
NM_018026.4(PACS1):c.661-18A>G rs373179128 0.00014
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00012
NM_018026.4(PACS1):c.698G>A (p.Gly233Asp) rs201067492 0.00012
NM_018026.4(PACS1):c.1412C>T (p.Thr471Met) rs148237222 0.00011
NM_018026.4(PACS1):c.2207+10A>T rs147328788 0.00011
NM_018026.4(PACS1):c.1413G>A (p.Thr471=) rs764849679 0.00010
NM_018026.4(PACS1):c.2656+19G>A rs547725816 0.00010
NM_018026.4(PACS1):c.1623G>A (p.Thr541=) rs200688409 0.00009
NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr) rs184092629 0.00009
NM_018026.4(PACS1):c.1293+14C>T rs200751352 0.00008
NM_018026.4(PACS1):c.1375-7A>G rs375226032 0.00008
NM_018026.4(PACS1):c.2309C>T (p.Ser770Phe) rs141739303 0.00008
NM_018026.4(PACS1):c.2412C>T (p.Ser804=) rs199759003 0.00008
NM_018026.4(PACS1):c.1993+18C>T rs543655686 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_018026.4(PACS1):c.1079G>A (p.Arg360Gln) rs756287691 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018026.4(PACS1):c.1506G>A (p.Val502=) rs759261910 0.00006
NM_018026.4(PACS1):c.1953C>T (p.Ser651=) rs115328615 0.00006
NM_018026.4(PACS1):c.2115C>T (p.Asp705=) rs372958348 0.00006
NM_018026.4(PACS1):c.2296G>A (p.Asp766Asn) rs375682747 0.00006
NM_018026.4(PACS1):c.2514C>T (p.Gly838=) rs199684328 0.00006
NM_018026.4(PACS1):c.385G>A (p.Val129Ile) rs115491121 0.00006
NM_018026.4(PACS1):c.1626+20A>G rs200284391 0.00005
NM_018026.4(PACS1):c.2250+12C>T rs760895616 0.00005
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) rs200950761 0.00005
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_018026.4(PACS1):c.1098G>C (p.Leu366Phe) rs778653156 0.00004
NM_018026.4(PACS1):c.1294-12T>C rs369296719 0.00004
NM_018026.4(PACS1):c.1353C>T (p.Ser451=) rs144058964 0.00004
NM_018026.4(PACS1):c.1732-4C>T rs776956067 0.00004
NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln) rs201700614 0.00004
NM_018026.4(PACS1):c.2104+12G>A rs770094931 0.00004
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00004
NM_018026.4(PACS1):c.2404A>G (p.Met802Val) rs754776375 0.00004
NM_018026.4(PACS1):c.979-15G>A rs375191312 0.00004
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.1442C>T (p.Thr481Ile) rs781666830 0.00003
NM_018026.4(PACS1):c.1788C>T (p.Thr596=) rs757234054 0.00003
NM_018026.4(PACS1):c.2087C>T (p.Ser696Leu) rs764689853 0.00003
NM_018026.4(PACS1):c.2198G>A (p.Arg733Gln) rs116546787 0.00003
NM_018026.4(PACS1):c.2291C>G (p.Ala764Gly) rs774147667 0.00003
NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser) rs140167187 0.00003
NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg) rs772469681 0.00003
NM_018026.4(PACS1):c.384C>T (p.Leu128=) rs376034298 0.00003
NM_018026.4(PACS1):c.711C>T (p.Asn237=) rs372723893 0.00003
NM_018026.4(PACS1):c.1182G>A (p.Thr394=) rs765439755 0.00002
NM_018026.4(PACS1):c.1239G>A (p.Thr413=) rs149576765 0.00002
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn) rs770126115 0.00002
NM_018026.4(PACS1):c.1516C>T (p.Arg506Trp) rs373127343 0.00002
NM_018026.4(PACS1):c.1587C>T (p.Ser529=) rs370986656 0.00002
NM_018026.4(PACS1):c.1737G>A (p.Val579=) rs773764695 0.00002
NM_018026.4(PACS1):c.1838+3A>G rs775980710 0.00002
NM_018026.4(PACS1):c.2207+5G>C rs1285923468 0.00002
NM_018026.4(PACS1):c.2251-19G>A rs758510036 0.00002
NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr) rs369846760 0.00002
NM_018026.4(PACS1):c.636C>T (p.Ala212=) rs1487851344 0.00002
NM_018026.4(PACS1):c.684C>T (p.Gly228=) rs548594376 0.00002
NM_018026.4(PACS1):c.739G>A (p.Glu247Lys) rs779508796 0.00002
NM_018026.4(PACS1):c.1066C>T (p.Arg356Cys) rs751741898 0.00001
NM_018026.4(PACS1):c.1162A>G (p.Thr388Ala) rs1036338542 0.00001
NM_018026.4(PACS1):c.1200-18C>T rs1395040114 0.00001
NM_018026.4(PACS1):c.1349A>G (p.Asp450Gly) rs1239297294 0.00001
NM_018026.4(PACS1):c.1428G>A (p.Pro476=) rs531107781 0.00001
NM_018026.4(PACS1):c.1464G>A (p.Thr488=) rs1372395894 0.00001
NM_018026.4(PACS1):c.1491-4G>C rs1000498364 0.00001
NM_018026.4(PACS1):c.1588G>A (p.Asp530Asn) rs780310274 0.00001
NM_018026.4(PACS1):c.1732-9C>G rs376602153 0.00001
NM_018026.4(PACS1):c.1803C>T (p.Ala601=) rs371400214 0.00001
NM_018026.4(PACS1):c.1821C>T (p.Leu607=) rs909223203 0.00001
NM_018026.4(PACS1):c.1992C>T (p.Leu664=) rs780838334 0.00001
NM_018026.4(PACS1):c.2313T>C (p.Pro771=) rs201812420 0.00001
NM_018026.4(PACS1):c.2370A>T (p.Arg790=) rs199806038 0.00001
NM_018026.4(PACS1):c.2378C>T (p.Thr793Met) rs763210681 0.00001
NM_018026.4(PACS1):c.2508G>A (p.Arg836=) rs780652481 0.00001
NM_018026.4(PACS1):c.2616C>T (p.Thr872=) rs756883026 0.00001
NM_018026.4(PACS1):c.2715G>A (p.Gln905=) rs1344596009 0.00001
NM_018026.4(PACS1):c.2776+5G>A rs371976817 0.00001
NM_018026.4(PACS1):c.2793C>T (p.Val931=) rs1433329718 0.00001
NM_018026.4(PACS1):c.401T>C (p.Met134Thr) rs765325642 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu) rs1857288713 0.00001
NM_018026.4(PACS1):c.691G>C (p.Val231Leu) rs754155683 0.00001
NM_018026.4(PACS1):c.712G>A (p.Val238Met) rs377164490 0.00001
NM_018026.4(PACS1):c.806-7G>A rs1236442770 0.00001
NM_018026.4(PACS1):c.978+8T>A rs139704583 0.00001
NC_000011.9:g.(?_65983570)_(66010751_?)del
NC_000011.9:g.(?_65983971)_(65984266_?)del
NC_000011.9:g.(?_66006255)_(66010751_?)del
NM_018026.4(PACS1):c.1002T>G (p.Phe334Leu)
NM_018026.4(PACS1):c.1027G>A (p.Val343Ile)
NM_018026.4(PACS1):c.1038+10C>G
NM_018026.4(PACS1):c.1038+13dup
NM_018026.4(PACS1):c.1038+15T>A
NM_018026.4(PACS1):c.1038+16C>G
NM_018026.4(PACS1):c.1039-7C>A
NM_018026.4(PACS1):c.1039-8C>T
NM_018026.4(PACS1):c.1041G>A (p.Val347=) rs1288618173
NM_018026.4(PACS1):c.1044C>G (p.Gly348=)
NM_018026.4(PACS1):c.104AGC[3] (p.Gln38_Gln40del)
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup) rs749515977
NM_018026.4(PACS1):c.1050G>A (p.Gly350=)
NM_018026.4(PACS1):c.1059T>C (p.His353=)
NM_018026.4(PACS1):c.1067G>A (p.Arg356His)
NM_018026.4(PACS1):c.1068C>G (p.Arg356=)
NM_018026.4(PACS1):c.1068C>T (p.Arg356=)
NM_018026.4(PACS1):c.1069G>C (p.Glu357Gln)
NM_018026.4(PACS1):c.1086G>A (p.Val362=)
NM_018026.4(PACS1):c.1095C>T (p.Asp365=)
NM_018026.4(PACS1):c.1105T>C (p.Leu369=)
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.1126T>G (p.Tyr376Asp)
NM_018026.4(PACS1):c.1129A>C (p.Asn377His)
NM_018026.4(PACS1):c.1137C>T (p.Ser379=)
NM_018026.4(PACS1):c.1197C>G (p.Leu399=)
NM_018026.4(PACS1):c.1199+10C>A rs199906288
NM_018026.4(PACS1):c.1199+10C>G rs199906288
NM_018026.4(PACS1):c.1199+10C>T
NM_018026.4(PACS1):c.1199+10_1199+11delinsAG rs2134718187
NM_018026.4(PACS1):c.1199+11dup
NM_018026.4(PACS1):c.1199+3G>A
NM_018026.4(PACS1):c.1199+5G>A
NM_018026.4(PACS1):c.1199+6C>T
NM_018026.4(PACS1):c.1199+8C>T
NM_018026.4(PACS1):c.1200G>A (p.Lys400=)
NM_018026.4(PACS1):c.1203T>C (p.Pro401=)
NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)
NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)
NM_018026.4(PACS1):c.1220C>T (p.Ser407Leu)
NM_018026.4(PACS1):c.1221G>A (p.Ser407=) rs745557583
NM_018026.4(PACS1):c.1224G>C (p.Gln408His)
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)
NM_018026.4(PACS1):c.1270C>T (p.Leu424Phe)
NM_018026.4(PACS1):c.1272C>T (p.Leu424=)
NM_018026.4(PACS1):c.1284C>A (p.Thr428=)
NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn) rs760985201
NM_018026.4(PACS1):c.1291_1293+6dup
NM_018026.4(PACS1):c.1293+12C>A
NM_018026.4(PACS1):c.1293+12C>T
NM_018026.4(PACS1):c.1293+13G>A
NM_018026.4(PACS1):c.1293+15G>A
NM_018026.4(PACS1):c.1293+20C>T
NM_018026.4(PACS1):c.1293+7G>A
NM_018026.4(PACS1):c.1294-13A>G
NM_018026.4(PACS1):c.1294-16C>G
NM_018026.4(PACS1):c.1294-7T>C
NM_018026.4(PACS1):c.1295T>C (p.Met432Thr)
NM_018026.4(PACS1):c.1299A>T (p.Glu433Asp)
NM_018026.4(PACS1):c.1305T>A (p.Ala435=)
NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)
NM_018026.4(PACS1):c.1328C>T (p.Thr443Ile)
NM_018026.4(PACS1):c.1346A>G (p.Asp449Gly)
NM_018026.4(PACS1):c.1347T>A (p.Asp449Glu)
NM_018026.4(PACS1):c.1355T>G (p.Leu452Trp)
NM_018026.4(PACS1):c.1370C>T (p.Thr457Ile)
NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)
NM_018026.4(PACS1):c.1374+11del
NM_018026.4(PACS1):c.1374+15G>A
NM_018026.4(PACS1):c.1374+5G>A
NM_018026.4(PACS1):c.1375-17C>T
NM_018026.4(PACS1):c.1375-9C>G
NM_018026.4(PACS1):c.1383T>C (p.Thr461=)
NM_018026.4(PACS1):c.1389G>A (p.Gln463=) rs778999471
NM_018026.4(PACS1):c.1401A>C (p.Gly467=)
NM_018026.4(PACS1):c.1408A>G (p.Ser470Gly)
NM_018026.4(PACS1):c.1414A>G (p.Ser472Gly)
NM_018026.4(PACS1):c.1417C>T (p.Leu473=)
NM_018026.4(PACS1):c.1427C>A (p.Pro476Gln)
NM_018026.4(PACS1):c.1427C>T (p.Pro476Leu)
NM_018026.4(PACS1):c.1431G>A (p.Glu477=)
NM_018026.4(PACS1):c.1439A>G (p.Lys480Arg)
NM_018026.4(PACS1):c.1447A>G (p.Met483Val)
NM_018026.4(PACS1):c.1448_1456del (p.Met483_Ser485del)
NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)
NM_018026.4(PACS1):c.1466A>T (p.Asp489Val)
NM_018026.4(PACS1):c.1473G>C (p.Gln491His)
NM_018026.4(PACS1):c.1491-15C>G
NM_018026.4(PACS1):c.1491-3C>T
NM_018026.4(PACS1):c.1491-7C>T
NM_018026.4(PACS1):c.1491-9C>T
NM_018026.4(PACS1):c.1495G>A (p.Val499Met) rs115813669
NM_018026.4(PACS1):c.1495G>T (p.Val499Leu) rs115813669
NM_018026.4(PACS1):c.1504G>A (p.Val502Met) rs1185372426
NM_018026.4(PACS1):c.1504G>T (p.Val502Leu)
NM_018026.4(PACS1):c.1517G>A (p.Arg506Gln)
NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)
NM_018026.4(PACS1):c.1532C>T (p.Thr511Met)
NM_018026.4(PACS1):c.1533G>A (p.Thr511=)
NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)
NM_018026.4(PACS1):c.1536C>T (p.Pro512=)
NM_018026.4(PACS1):c.1539G>C (p.Leu513=)
NM_018026.4(PACS1):c.1546C>T (p.Arg516Trp)
NM_018026.4(PACS1):c.1564C>G (p.Leu522Val) rs2134735798
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys) rs2134735819
NM_018026.4(PACS1):c.1577C>T (p.Thr526Ile)
NM_018026.4(PACS1):c.1595A>G (p.Glu532Gly)
NM_018026.4(PACS1):c.1603C>T (p.Pro535Ser)
NM_018026.4(PACS1):c.1606G>T (p.Asp536Tyr)
NM_018026.4(PACS1):c.1609C>T (p.Leu537=)
NM_018026.4(PACS1):c.1612G>A (p.Gly538Ser)
NM_018026.4(PACS1):c.1613G>C (p.Gly538Ala)
NM_018026.4(PACS1):c.1622C>T (p.Thr541Met)
NM_018026.4(PACS1):c.1626+4C>A
NM_018026.4(PACS1):c.1626+6T>C
NM_018026.4(PACS1):c.1627-16T>C
NM_018026.4(PACS1):c.1627-16dup
NM_018026.4(PACS1):c.1627-17T>G
NM_018026.4(PACS1):c.1627-19C>T
NM_018026.4(PACS1):c.1627-20A>C
NM_018026.4(PACS1):c.1627-4G>A
NM_018026.4(PACS1):c.1627-4G>T
NM_018026.4(PACS1):c.1643_1648del (p.Val548_Tyr549del)
NM_018026.4(PACS1):c.1644G>A (p.Val548=)
NM_018026.4(PACS1):c.1644_1648del (p.Tyr549fs)
NM_018026.4(PACS1):c.1651C>A (p.Gln551Lys)
NM_018026.4(PACS1):c.1658A>G (p.Asn553Ser)
NM_018026.4(PACS1):c.1661A>G (p.Gln554Arg)
NM_018026.4(PACS1):c.1671G>T (p.Val557=)
NM_018026.4(PACS1):c.1677T>G (p.Asp559Glu)
NM_018026.4(PACS1):c.1679C>T (p.Ala560Val)
NM_018026.4(PACS1):c.1707G>A (p.Val569=)
NM_018026.4(PACS1):c.1717G>A (p.Asp573Asn)
NM_018026.4(PACS1):c.1731+17C>T
NM_018026.4(PACS1):c.1732-13C>G
NM_018026.4(PACS1):c.1732-13C>T
NM_018026.4(PACS1):c.1732-5C>T rs1345197652
NM_018026.4(PACS1):c.1737G>T (p.Val579=)
NM_018026.4(PACS1):c.1744C>T (p.Leu582=)
NM_018026.4(PACS1):c.1753G>C (p.Asp585His)
NM_018026.4(PACS1):c.1755C>A (p.Asp585Glu)
NM_018026.4(PACS1):c.1759C>T (p.Arg587Trp)
NM_018026.4(PACS1):c.1771G>A (p.Val591Met)
NM_018026.4(PACS1):c.1771G>C (p.Val591Leu)
NM_018026.4(PACS1):c.1773G>A (p.Val591=)
NM_018026.4(PACS1):c.1773G>C (p.Val591=)
NM_018026.4(PACS1):c.1784C>T (p.Ser595Phe)
NM_018026.4(PACS1):c.1789G>A (p.Val597Met)
NM_018026.4(PACS1):c.1804G>A (p.Val602Met)
NM_018026.4(PACS1):c.1809G>A (p.Leu603=)
NM_018026.4(PACS1):c.1809G>C (p.Leu603=)
NM_018026.4(PACS1):c.1812C>T (p.Ser604=)
NM_018026.4(PACS1):c.1825C>T (p.Arg609Trp)
NM_018026.4(PACS1):c.1826G>A (p.Arg609Gln)
NM_018026.4(PACS1):c.1834C>T (p.Arg612Cys)
NM_018026.4(PACS1):c.1835G>A (p.Arg612His)
NM_018026.4(PACS1):c.1838+19C>T
NM_018026.4(PACS1):c.1839-13C>T
NM_018026.4(PACS1):c.1839-15_1839-14insAGGGGTG
NM_018026.4(PACS1):c.1839-17C>A
NM_018026.4(PACS1):c.1839-18G>A
NM_018026.4(PACS1):c.1839-18_1839-17insTGGGCAGTG
NM_018026.4(PACS1):c.1839-19C>A
NM_018026.4(PACS1):c.1839-4C>T
NM_018026.4(PACS1):c.1839-9C>T
NM_018026.4(PACS1):c.1845C>G (p.Asn615Lys)
NM_018026.4(PACS1):c.1862C>T (p.Pro621Leu) rs1554993480
NM_018026.4(PACS1):c.1863G>A (p.Pro621=)
NM_018026.4(PACS1):c.1866G>A (p.Arg622=) rs780711284
NM_018026.4(PACS1):c.1875G>A (p.Lys625=)
NM_018026.4(PACS1):c.1879G>C (p.Ala627Pro)
NM_018026.4(PACS1):c.1883C>T (p.Ala628Val)
NM_018026.4(PACS1):c.1885G>A (p.Val629Met)
NM_018026.4(PACS1):c.1887G>C (p.Val629=)
NM_018026.4(PACS1):c.1891G>C (p.Gly631Arg)
NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)
NM_018026.4(PACS1):c.1927G>A (p.Val643Ile)
NM_018026.4(PACS1):c.1939G>T (p.Ala647Ser)
NM_018026.4(PACS1):c.1950C>A (p.Thr650=)
NM_018026.4(PACS1):c.1950C>T (p.Thr650=)
NM_018026.4(PACS1):c.1956C>T (p.Asp652=) rs142518873
NM_018026.4(PACS1):c.1972C>T (p.Arg658Cys)
NM_018026.4(PACS1):c.1974C>T (p.Arg658=)
NM_018026.4(PACS1):c.1978C>T (p.Leu660Phe)
NM_018026.4(PACS1):c.1987C>T (p.Pro663Ser)
NM_018026.4(PACS1):c.1993+12A>G
NM_018026.4(PACS1):c.1993+5del rs755334128
NM_018026.4(PACS1):c.1993+9G>A
NM_018026.4(PACS1):c.1994-16G>A
NM_018026.4(PACS1):c.1994-17G>C
NM_018026.4(PACS1):c.1994-20T>G
NM_018026.4(PACS1):c.1994-7C>T
NM_018026.4(PACS1):c.1994-8T>C
NM_018026.4(PACS1):c.2001C>T (p.His667=)
NM_018026.4(PACS1):c.2021G>T (p.Gly674Val)
NM_018026.4(PACS1):c.2028C>T (p.Val676=)
NM_018026.4(PACS1):c.2029G>A (p.Asp677Asn)
NM_018026.4(PACS1):c.2040C>T (p.Tyr680=)
NM_018026.4(PACS1):c.2045G>T (p.Ser682Ile)
NM_018026.4(PACS1):c.2062G>A (p.Gly688Ser)
NM_018026.4(PACS1):c.2062G>T (p.Gly688Cys)
NM_018026.4(PACS1):c.2071G>T (p.Asp691Tyr)
NM_018026.4(PACS1):c.2079C>T (p.Phe693=)
NM_018026.4(PACS1):c.2082T>C (p.Ser694=)
NM_018026.4(PACS1):c.2082T>G (p.Ser694Arg)
NM_018026.4(PACS1):c.2083C>T (p.Arg695Cys)
NM_018026.4(PACS1):c.2084G>A (p.Arg695His)
NM_018026.4(PACS1):c.2088G>A (p.Ser696=)
NM_018026.4(PACS1):c.2089G>A (p.Glu697Lys)
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)
NM_018026.4(PACS1):c.2104+13T>C
NM_018026.4(PACS1):c.2104+14G>T
NM_018026.4(PACS1):c.2104+8C>A
NM_018026.4(PACS1):c.2105-13G>C
NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)
NM_018026.4(PACS1):c.2112G>A (p.Leu704=)
NM_018026.4(PACS1):c.2112G>T (p.Leu704=)
NM_018026.4(PACS1):c.2125C>T (p.Arg709Trp)
NM_018026.4(PACS1):c.2133G>A (p.Met711Ile)
NM_018026.4(PACS1):c.2140G>A (p.Val714Ile)
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
NM_018026.4(PACS1):c.2145C>G (p.Asn715Lys)
NM_018026.4(PACS1):c.2145C>T (p.Asn715=)
NM_018026.4(PACS1):c.2152G>T (p.Ala718Ser)
NM_018026.4(PACS1):c.2156C>T (p.Thr719Met)
NM_018026.4(PACS1):c.2157G>A (p.Thr719=)
NM_018026.4(PACS1):c.2172C>T (p.Pro724=)
NM_018026.4(PACS1):c.2173G>A (p.Val725Met)
NM_018026.4(PACS1):c.2179G>A (p.Glu727Lys)
NM_018026.4(PACS1):c.2189T>G (p.Leu730Arg)
NM_018026.4(PACS1):c.2199G>A (p.Arg733=)
NM_018026.4(PACS1):c.2208-18T>C
NM_018026.4(PACS1):c.2208-7C>T
NM_018026.4(PACS1):c.2217A>G (p.Glu739=)
NM_018026.4(PACS1):c.2228A>C (p.Gln743Pro)
NM_018026.4(PACS1):c.2241C>T (p.Pro747=)
NM_018026.4(PACS1):c.2250+12del
NM_018026.4(PACS1):c.2250+14C>T
NM_018026.4(PACS1):c.2250+3G>A
NM_018026.4(PACS1):c.2250C>G (p.Gly750=)
NM_018026.4(PACS1):c.2251-14T>C
NM_018026.4(PACS1):c.2251-14T>G
NM_018026.4(PACS1):c.2251-17C>A
NM_018026.4(PACS1):c.2251-5T>C
NM_018026.4(PACS1):c.2251-6T>C
NM_018026.4(PACS1):c.2253G>A (p.Val751=)
NM_018026.4(PACS1):c.2259G>A (p.Lys753=)
NM_018026.4(PACS1):c.2283C>T (p.Pro761=)
NM_018026.4(PACS1):c.2293+12G>A
NM_018026.4(PACS1):c.2293+19T>A
NM_018026.4(PACS1):c.2293+20G>A
NM_018026.4(PACS1):c.2293+3G>A
NM_018026.4(PACS1):c.2294-16G>A
NM_018026.4(PACS1):c.2294-17C>T
NM_018026.4(PACS1):c.2294-8C>T
NM_018026.4(PACS1):c.2295C>T (p.Gly765=)
NM_018026.4(PACS1):c.2298T>C (p.Asp766=)
NM_018026.4(PACS1):c.2299G>A (p.Gly767Arg) rs2134748638
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)
NM_018026.4(PACS1):c.2311C>T (p.Pro771Ser)
NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)
NM_018026.4(PACS1):c.2345C>T (p.Pro782Leu)
NM_018026.4(PACS1):c.2349C>A (p.Pro783=)
NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)
NM_018026.4(PACS1):c.2353_2373del (p.Ser785_Asp791del)
NM_018026.4(PACS1):c.2357C>T (p.Ser786Leu)
NM_018026.4(PACS1):c.2363T>C (p.Leu788Pro)
NM_018026.4(PACS1):c.2364G>C (p.Leu788=)
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln) rs1855762487
NM_018026.4(PACS1):c.2373C>T (p.Asp791=)
NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)
NM_018026.4(PACS1):c.2377A>G (p.Thr793Ala)
NM_018026.4(PACS1):c.2379G>A (p.Thr793=)
NM_018026.4(PACS1):c.2391C>T (p.Pro797=)
NM_018026.4(PACS1):c.2400A>G (p.Pro800=)
NM_018026.4(PACS1):c.2401T>C (p.Ser801Pro)
NM_018026.4(PACS1):c.2402C>G (p.Ser801Cys)
NM_018026.4(PACS1):c.2405T>C (p.Met802Thr)
NM_018026.4(PACS1):c.2421C>T (p.Ala807=)
NM_018026.4(PACS1):c.2422A>G (p.Ile808Val)
NM_018026.4(PACS1):c.2424C>T (p.Ile808=)
NM_018026.4(PACS1):c.2425G>A (p.Val809Met)
NM_018026.4(PACS1):c.2429+15C>T
NM_018026.4(PACS1):c.2429+16G>A
NM_018026.4(PACS1):c.2429+16G>T
NM_018026.4(PACS1):c.2429+17T>C
NM_018026.4(PACS1):c.2430-10C>A
NM_018026.4(PACS1):c.2437A>C (p.Asn813His)
NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala) rs1855812873
NM_018026.4(PACS1):c.2455G>A (p.Val819Met)
NM_018026.4(PACS1):c.2484G>A (p.Leu828=)
NM_018026.4(PACS1):c.2493C>T (p.Pro831=)
NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)
NM_018026.4(PACS1):c.2502G>A (p.Arg834=)
NM_018026.4(PACS1):c.2502G>T (p.Arg834=)
NM_018026.4(PACS1):c.2515G>A (p.Asp839Asn)
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
NM_018026.4(PACS1):c.2534C>T (p.Ser845Leu)
NM_018026.4(PACS1):c.2535G>A (p.Ser845=)
NM_018026.4(PACS1):c.2580C>T (p.Arg860=)
NM_018026.4(PACS1):c.2591G>A (p.Ser864Asn)
NM_018026.4(PACS1):c.2605C>A (p.Leu869Ile)
NM_018026.4(PACS1):c.2609C>T (p.Ser870Phe)
NM_018026.4(PACS1):c.2628T>C (p.Thr876=)
NM_018026.4(PACS1):c.2631G>C (p.Val877=)
NM_018026.4(PACS1):c.2649C>A (p.Asn883Lys)
NM_018026.4(PACS1):c.2656+10C>T
NM_018026.4(PACS1):c.2656+11C>G
NM_018026.4(PACS1):c.2656+11C>T
NM_018026.4(PACS1):c.2656+15G>A
NM_018026.4(PACS1):c.2656+16G>A
NM_018026.4(PACS1):c.2656+18C>T
NM_018026.4(PACS1):c.2656+9C>A
NM_018026.4(PACS1):c.2657-13G>A
NM_018026.4(PACS1):c.2657-16C>G
NM_018026.4(PACS1):c.2657-17C>T
NM_018026.4(PACS1):c.2657-9_2657-6del
NM_018026.4(PACS1):c.2667C>T (p.Ile889=)
NM_018026.4(PACS1):c.2674A>T (p.Ser892Cys)
NM_018026.4(PACS1):c.2698G>A (p.Val900Met)
NM_018026.4(PACS1):c.2751C>A (p.Ala917=)
NM_018026.4(PACS1):c.2766T>G (p.Thr922=)
NM_018026.4(PACS1):c.2767A>G (p.Met923Val)
NM_018026.4(PACS1):c.2776+15A>G rs1229706533
NM_018026.4(PACS1):c.2776+16G>C
NM_018026.4(PACS1):c.2776+20C>T
NM_018026.4(PACS1):c.2776+4C>T
NM_018026.4(PACS1):c.2776+5G>C rs371976817
NM_018026.4(PACS1):c.2776+7G>C
NM_018026.4(PACS1):c.2776+9G>A
NM_018026.4(PACS1):c.2777-19C>G rs1184475050
NM_018026.4(PACS1):c.2777-6C>T
NM_018026.4(PACS1):c.2777-8A>T
NM_018026.4(PACS1):c.2829C>T (p.Ala943=)
NM_018026.4(PACS1):c.2841C>A (p.Thr947=)
NM_018026.4(PACS1):c.2859A>G (p.Pro953=) rs2134756045
NM_018026.4(PACS1):c.2871C>T (p.Phe957=)
NM_018026.4(PACS1):c.2885C>G (p.Ala962Gly)
NM_018026.4(PACS1):c.2888_2889insTGTCTC (p.Thr963_Ter964insValSer)
NM_018026.4(PACS1):c.2892A>C (p.Ter964Cys)
NM_018026.4(PACS1):c.357-12_357-11del rs1215818898
NM_018026.4(PACS1):c.357-4C>T
NM_018026.4(PACS1):c.368T>C (p.Leu123Ser)
NM_018026.4(PACS1):c.372C>T (p.Thr124=)
NM_018026.4(PACS1):c.400A>G (p.Met134Val)
NM_018026.4(PACS1):c.403G>T (p.Asp135Tyr)
NM_018026.4(PACS1):c.424G>A (p.Val142Ile) rs2134674046
NM_018026.4(PACS1):c.429C>A (p.Ile143=)
NM_018026.4(PACS1):c.429C>T (p.Ile143=)
NM_018026.4(PACS1):c.444+10G>C
NM_018026.4(PACS1):c.444+14G>A
NM_018026.4(PACS1):c.444+19T>C
NM_018026.4(PACS1):c.444+6T>A
NM_018026.4(PACS1):c.444+9G>A
NM_018026.4(PACS1):c.445-15T>A
NM_018026.4(PACS1):c.445-15T>C rs182977545
NM_018026.4(PACS1):c.445-15T>G
NM_018026.4(PACS1):c.445-16_445-15del
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) rs2134698831
NM_018026.4(PACS1):c.461T>G (p.Leu154Arg)
NM_018026.4(PACS1):c.463C>T (p.Arg155Cys)
NM_018026.4(PACS1):c.471C>T (p.Asn157=)
NM_018026.4(PACS1):c.472G>A (p.Glu158Lys) rs745939017
NM_018026.4(PACS1):c.477C>T (p.Ile159=)
NM_018026.4(PACS1):c.478G>A (p.Val160Ile)
NM_018026.4(PACS1):c.483T>C (p.Leu161=)
NM_018026.4(PACS1):c.491G>T (p.Ser164Ile)
NM_018026.4(PACS1):c.510G>A (p.Glu170=)
NM_018026.4(PACS1):c.511C>T (p.Leu171Phe)
NM_018026.4(PACS1):c.517T>C (p.Leu173=)
NM_018026.4(PACS1):c.524_526del (p.Phe175del)
NM_018026.4(PACS1):c.534+10T>C
NM_018026.4(PACS1):c.534+3G>A rs2134698969
NM_018026.4(PACS1):c.534+7C>T
NM_018026.4(PACS1):c.534G>C (p.Gln178His)
NM_018026.4(PACS1):c.535-16_535-15del
NM_018026.4(PACS1):c.546C>A (p.Phe182Leu)
NM_018026.4(PACS1):c.549T>C (p.Leu183=)
NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)
NM_018026.4(PACS1):c.585A>G (p.Gln195=)
NM_018026.4(PACS1):c.588G>A (p.Arg196=)
NM_018026.4(PACS1):c.600C>T (p.Tyr200=)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018026.4(PACS1):c.618G>A (p.Leu206=)
NM_018026.4(PACS1):c.630C>T (p.Thr210=)
NM_018026.4(PACS1):c.642A>T (p.Gly214=)
NM_018026.4(PACS1):c.651C>T (p.Asn217=)
NM_018026.4(PACS1):c.660+11C>T
NM_018026.4(PACS1):c.660+13_660+14del
NM_018026.4(PACS1):c.660+19_660+20insA
NM_018026.4(PACS1):c.661-15T>A rs1565150720
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.661-5C>T
NM_018026.4(PACS1):c.661-6T>G
NM_018026.4(PACS1):c.661-6del
NM_018026.4(PACS1):c.670C>T (p.His224Tyr)
NM_018026.4(PACS1):c.676A>C (p.Asn226His) rs1175983246
NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)
NM_018026.4(PACS1):c.687A>G (p.Ala229=)
NM_018026.4(PACS1):c.710A>G (p.Asn237Ser)
NM_018026.4(PACS1):c.725C>G (p.Ser242Cys)
NM_018026.4(PACS1):c.729G>T (p.Val243=)
NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)
NM_018026.4(PACS1):c.733G>A (p.Val245Met)
NM_018026.4(PACS1):c.733G>T (p.Val245Leu)
NM_018026.4(PACS1):c.748A>G (p.Ile250Val)
NM_018026.4(PACS1):c.752A>C (p.Tyr251Ser)
NM_018026.4(PACS1):c.752A>G (p.Tyr251Cys)
NM_018026.4(PACS1):c.753C>T (p.Tyr251=)
NM_018026.4(PACS1):c.777C>T (p.Asp259=)
NM_018026.4(PACS1):c.778C>A (p.His260Asn)
NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)
NM_018026.4(PACS1):c.798G>A (p.Lys266=)
NM_018026.4(PACS1):c.801T>C (p.Leu267=)
NM_018026.4(PACS1):c.805+10A>G
NM_018026.4(PACS1):c.805+12G>A
NM_018026.4(PACS1):c.805+9C>G
NM_018026.4(PACS1):c.806-11G>A
NM_018026.4(PACS1):c.806-13G>A
NM_018026.4(PACS1):c.806-3C>T
NM_018026.4(PACS1):c.808C>T (p.Arg270Cys)
NM_018026.4(PACS1):c.809G>A (p.Arg270His)
NM_018026.4(PACS1):c.812C>T (p.Ser271Phe)
NM_018026.4(PACS1):c.814C>G (p.Pro272Ala)
NM_018026.4(PACS1):c.838GAAGAG[3] (p.Glu283_Ser284insGluGlu)
NM_018026.4(PACS1):c.897+16C>T
NM_018026.4(PACS1):c.897+18C>T
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018026.4(PACS1):c.898-12G>T
NM_018026.4(PACS1):c.898-18G>C
NM_018026.4(PACS1):c.898-6A>G
NM_018026.4(PACS1):c.898-7C>A
NM_018026.4(PACS1):c.910G>A (p.Glu304Lys)
NM_018026.4(PACS1):c.911A>T (p.Glu304Val)
NM_018026.4(PACS1):c.915C>A (p.Asp305Glu)
NM_018026.4(PACS1):c.915C>T (p.Asp305=)
NM_018026.4(PACS1):c.919G>A (p.Asp307Asn)
NM_018026.4(PACS1):c.926G>A (p.Arg309Gln)
NM_018026.4(PACS1):c.927G>A (p.Arg309=)
NM_018026.4(PACS1):c.943C>G (p.Arg315Gly)
NM_018026.4(PACS1):c.943C>T (p.Arg315Trp)
NM_018026.4(PACS1):c.944G>A (p.Arg315Gln)
NM_018026.4(PACS1):c.945G>A (p.Arg315=)
NM_018026.4(PACS1):c.951A>G (p.Lys317=)
NM_018026.4(PACS1):c.956C>T (p.Thr319Ile)
NM_018026.4(PACS1):c.957_959dup (p.Ser320_Thr321insSer)
NM_018026.4(PACS1):c.969C>T (p.Ala323=)
NM_018026.4(PACS1):c.970A>G (p.Ile324Val)
NM_018026.4(PACS1):c.976A>C (p.Arg326=)
NM_018026.4(PACS1):c.978+13G>A
NM_018026.4(PACS1):c.978+18G>A
NM_018026.4(PACS1):c.978+1G>A
NM_018026.4(PACS1):c.978+21_978+26del
NM_018026.4(PACS1):c.978+6C>T
NM_018026.4(PACS1):c.978G>A (p.Arg326=)
NM_018026.4(PACS1):c.979-10G>T
NM_018026.4(PACS1):c.979-15G>T
NM_018026.4(PACS1):c.979-16C>T
NM_018026.4(PACS1):c.979-18T>C
NM_018026.4(PACS1):c.979-20C>T
NM_018026.4(PACS1):c.979-4A>G
NM_018026.4(PACS1):c.979-8C>G

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