ClinVar Miner

List of variants reported as pathogenic for disorder of GPI anchor biosynthesis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_176787.5(PIGN):c.2284-1G>C rs760977825 0.00006
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_001127178.3(PIGG):c.1994del (p.Cys665fs) rs755634856 0.00002
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_015937.6(PIGT):c.835C>T (p.Arg279Ter) rs199968454 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.439A>T (p.Lys147Ter) rs370389707 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter) rs547951371 0.00001
NM_001127178.3(PIGG):c.1803del (p.Asp601fs) rs1377893089 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980 0.00001
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter) rs782124562 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127178.3(PIGG):c.624G>A (p.Trp208Ter) rs1553880152 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) rs869320772 0.00001
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) rs778265926 0.00001
NM_003896.4(ST3GAL5):c.333T>G (p.Tyr111Ter) rs368298013 0.00001
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955 0.00001
NM_015937.6(PIGT):c.796C>T (p.Arg266Ter) rs754517456 0.00001
NM_032634.4(PIGO):c.1087C>T (p.Gln363Ter) rs1829507609 0.00001
NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter) rs750636989 0.00001
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) rs1247927038 0.00001
NM_032634.4(PIGO):c.773del (p.Val258fs) rs765723177 0.00001
NM_176787.5(PIGN):c.1189A>T (p.Lys397Ter) rs1050258088 0.00001
NM_176787.5(PIGN):c.1252-2A>G rs1360977917 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.1485del (p.Ala496fs) rs1568185349 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.505C>T (p.Gln169Ter) rs369966550 0.00001
NM_176787.5(PIGN):c.661C>T (p.Arg221Ter) rs1382897257 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NC_000002.11:g.(?_86073480)_(86075347_?)del
NC_000002.11:g.(?_86088284)_(86090628_?)del
NC_000004.11:g.(?_493125)_(501402_?)del
NC_000004.11:g.(?_493125)_(663896_?)del
NC_000004.11:g.(?_493125)_(998181_?)del
NC_000004.11:g.(?_494165)_(494410_?)del
NC_000004.11:g.(?_501174)_(533158_?)del
NC_000004.11:g.(?_502598)_(509994_?)del
NC_000004.11:g.(?_509742)_(533158_?)del
NC_000004.11:g.(?_520808)_(1020391_?)del
NC_000004.11:g.(?_524205)_(527790_?)del
NC_000009.11:g.(?_34458984)_(35809462_?)del
NC_000009.11:g.(?_34459004)_(36276941_?)del
NC_000018.10:g.(?_62045836)_(62464074_?)del
NC_000018.10:g.(?_62088736)_(62143366_?)del
NC_000018.10:g.(?_62154545)_(62157808_?)del
NC_000018.10:g.62085265del
NC_000018.9:g.(?_59713069)_(59828606_?)del
NC_000018.9:g.(?_59713089)_(59752517_?)del
NC_000018.9:g.(?_59713089)_(59828586_?)del
NC_000018.9:g.(?_59713089)_(61654512_?)del
NC_000018.9:g.(?_59739886)_(59749999_?)del
NC_000018.9:g.(?_59739886)_(59828586_?)del
NC_000018.9:g.(?_59755969)_(59781892_?)del
NC_000018.9:g.(?_59763071)_(59763193_?)del
NC_000018.9:g.(?_59768298)_(59770145_?)del
NC_000018.9:g.(?_59805456)_(59806328_?)del
NC_000018.9:g.(?_59805456)_(59828586_?)del
NC_000018.9:g.(?_59805466)_(59806318_?)del
NC_000018.9:g.(?_59819871)_(59824934_?)del
NC_000018.9:g.(?_59828346)_(59828586_?)del
NC_000023.10:g.(?_14861689)_(15870650_?)del
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer) rs1560313832
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127178.3(PIGG):c.1173_1174del (p.Tyr392fs) rs2108940028
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter) rs780498908
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)
NM_001127178.3(PIGG):c.1489dup (p.Ser497fs) rs1577094794
NM_001127178.3(PIGG):c.1544_1545del (p.Ala515fs) rs2108949204
NM_001127178.3(PIGG):c.1562_1563del (p.Val521fs)
NM_001127178.3(PIGG):c.1603dup (p.Thr535fs)
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs) rs2108966214
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs) rs2108968160
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs)
NM_001127178.3(PIGG):c.2209del (p.Ala737fs) rs2108995799
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.2261+1G>C rs869320773
NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs) rs1728769445
NM_001127178.3(PIGG):c.2294_2295del (p.Phe765fs)
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)
NM_001127178.3(PIGG):c.2332del (p.Lys779fs)
NM_001127178.3(PIGG):c.2334del (p.Lys779fs)
NM_001127178.3(PIGG):c.2444del (p.Pro815fs)
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.2760del (p.Phe921fs)
NM_001127178.3(PIGG):c.309_310del (p.His103fs) rs1553875180
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.366_381del (p.Leu122fs) rs1719440437
NM_001127178.3(PIGG):c.570+1G>A rs1719513784
NM_001127178.3(PIGG):c.571del rs1553880098
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter) rs1720118439
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs)
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.801del (p.Asp268fs)
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) rs1921817809
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp) rs1057524256
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1008+1G>A
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003896.4(ST3GAL5):c.154C>T (p.Arg52Ter)
NM_003896.4(ST3GAL5):c.271G>T (p.Glu91Ter)
NM_003896.4(ST3GAL5):c.289del (p.Met97fs)
NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945
NM_003896.4(ST3GAL5):c.318+1del rs1684687070
NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs) rs2104282063
NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter) rs1683047204
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)
NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)
NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)
NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)
NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)
NM_003896.4(ST3GAL5):c.538G>T (p.Glu180Ter)
NM_003896.4(ST3GAL5):c.567del (p.Lys190fs) rs2103959087
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)
NM_003896.4(ST3GAL5):c.694G>T (p.Glu232Ter)
NM_003896.4(ST3GAL5):c.794del (p.Leu265fs) rs1444819796
NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter) rs1688068423
NM_003896.4(ST3GAL5):c.839dup (p.Glu281fs)
NM_003896.4(ST3GAL5):c.874del (p.Trp292fs)
NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)
NM_015937.6(PIGT):c.1043del (p.Pro348fs)
NM_015937.6(PIGT):c.1043dup (p.Val349fs) rs749895437
NM_015937.6(PIGT):c.271C>T (p.Gln91Ter) rs1334035467
NM_015937.6(PIGT):c.564del (p.Trp189fs)
NM_015937.6(PIGT):c.57del (p.Trp20fs) rs763009552
NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)
NM_032634.4(PIGO):c.1126C>T (p.Arg376Ter)
NM_032634.4(PIGO):c.1184del (p.Gln395fs)
NM_032634.4(PIGO):c.1187del (p.Leu396fs) rs1657564568
NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs) rs1563998317
NM_032634.4(PIGO):c.1329G>A (p.Trp443Ter) rs2131077198
NM_032634.4(PIGO):c.1348del (p.Arg450fs)
NM_032634.4(PIGO):c.135dup (p.Gly46fs) rs1287376106
NM_032634.4(PIGO):c.1361del (p.Gly454fs)
NM_032634.4(PIGO):c.1361dup (p.Thr455fs)
NM_032634.4(PIGO):c.1445_1449del (p.Leu482fs) rs1209271799
NM_032634.4(PIGO):c.1549del (p.Ala517fs) rs1587166550
NM_032634.4(PIGO):c.178del (p.Ala60fs) rs1378962389
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.1841dup (p.Arg615fs)
NM_032634.4(PIGO):c.1923C>A (p.Cys641Ter)
NM_032634.4(PIGO):c.1942del (p.Cys648fs) rs2131075608
NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) rs1391418639
NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) rs763992668
NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) rs1563996824
NM_032634.4(PIGO):c.204dup (p.Arg69fs) rs751086453
NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)
NM_032634.4(PIGO):c.2191del (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2217del (p.Ser740fs)
NM_032634.4(PIGO):c.2257del (p.Ser753fs) rs2131074579
NM_032634.4(PIGO):c.2279G>A (p.Trp760Ter)
NM_032634.4(PIGO):c.2360_2363del (p.Pro787fs) rs2131074060
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) rs1199247059
NM_032634.4(PIGO):c.2413C>T (p.Gln805Ter)
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)
NM_032634.4(PIGO):c.2602_2605del (p.Leu868fs) rs2131073372
NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter) rs1829372756
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.28del (p.Leu10fs)
NM_032634.4(PIGO):c.2921del (p.Gln974fs) rs1829352034
NM_032634.4(PIGO):c.2953A>T (p.Arg985Ter)
NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)
NM_032634.4(PIGO):c.309del (p.Lys103fs)
NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)
NM_032634.4(PIGO):c.327_336del (p.Ile110fs)
NM_032634.4(PIGO):c.36G>A (p.Trp12Ter)
NM_032634.4(PIGO):c.438del (p.Phe146fs) rs1587176440
NM_032634.4(PIGO):c.445dup (p.Ala149fs)
NM_032634.4(PIGO):c.505dup (p.Ser169fs)
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.894_895del (p.Phe299fs)
NM_032634.4(PIGO):c.91dup (p.Thr31fs) rs1587178357
NM_032634.4(PIGO):c.985del (p.Leu329fs)
NM_176787.5(PIGN):c.1066A>T (p.Lys356Ter)
NM_176787.5(PIGN):c.1132A>T (p.Lys378Ter)
NM_176787.5(PIGN):c.1151dup (p.Phe385fs)
NM_176787.5(PIGN):c.1172+1G>A
NM_176787.5(PIGN):c.11del (p.Phe4fs)
NM_176787.5(PIGN):c.1246del (p.Glu416fs)
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.1362G>A (p.Trp454Ter)
NM_176787.5(PIGN):c.1494dup (p.Leu499fs) rs750418747
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter) rs2146506059
NM_176787.5(PIGN):c.1518G>A (p.Trp506Ter)
NM_176787.5(PIGN):c.1533T>A (p.Tyr511Ter)
NM_176787.5(PIGN):c.1556G>A (p.Trp519Ter)
NM_176787.5(PIGN):c.1600del (p.Val534fs)
NM_176787.5(PIGN):c.1614del (p.Tyr539fs)
NM_176787.5(PIGN):c.1617T>A (p.Tyr539Ter)
NM_176787.5(PIGN):c.1646_1647insTTCTGTT (p.Leu549fs)
NM_176787.5(PIGN):c.1665_1668dup (p.Val557Ter) rs2146439342
NM_176787.5(PIGN):c.1688dup (p.Tyr564fs) rs768557691
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1732del (p.Trp578fs)
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.1767+1del
NM_176787.5(PIGN):c.1790del (p.Phe597fs) rs1599531710
NM_176787.5(PIGN):c.179dup (p.Tyr60Ter)
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter) rs200199765
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1921A>T (p.Arg641Ter)
NM_176787.5(PIGN):c.1924_1928del (p.Arg641_Lys642insTer)
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
NM_176787.5(PIGN):c.195del (p.Asn65fs)
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.2004T>G (p.Tyr668Ter)
NM_176787.5(PIGN):c.2004_2005del (p.Tyr668_Ser669delinsTer)
NM_176787.5(PIGN):c.2020del (p.Leu674fs)
NM_176787.5(PIGN):c.2026_2027del (p.Arg676fs) rs2034420069
NM_176787.5(PIGN):c.2102dup (p.Ser702fs)
NM_176787.5(PIGN):c.2125C>T (p.Arg709Ter)
NM_176787.5(PIGN):c.2129del (p.Leu710fs)
NM_176787.5(PIGN):c.2147C>A (p.Ser716Ter)
NM_176787.5(PIGN):c.2147C>G (p.Ser716Ter) rs1173098029
NM_176787.5(PIGN):c.2180+1G>A
NM_176787.5(PIGN):c.2193_2194del (p.Phe732fs) rs2033909461
NM_176787.5(PIGN):c.221+1dup rs2147616335
NM_176787.5(PIGN):c.2237_2238del (p.Ile746fs)
NM_176787.5(PIGN):c.2251_2252del (p.Leu751fs) rs1341720994
NM_176787.5(PIGN):c.2329C>T (p.Arg777Ter)
NM_176787.5(PIGN):c.2397dup (p.Gly800fs) rs867437443
NM_176787.5(PIGN):c.2399G>A (p.Gly800Glu)
NM_176787.5(PIGN):c.2423dup (p.Asn808fs) rs2145961535
NM_176787.5(PIGN):c.2441_2442del (p.Ser814fs) rs2033603128
NM_176787.5(PIGN):c.2443_2450del (p.Val815fs) rs2033602281
NM_176787.5(PIGN):c.2463_2464del (p.Phe822fs)
NM_176787.5(PIGN):c.2482G>T (p.Gly828Ter)
NM_176787.5(PIGN):c.2498G>A (p.Trp833Ter)
NM_176787.5(PIGN):c.24del (p.Leu9fs)
NM_176787.5(PIGN):c.2575del (p.Ser859fs)
NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)
NM_176787.5(PIGN):c.2655del (p.Trp885fs)
NM_176787.5(PIGN):c.2672+1G>T rs1287655964
NM_176787.5(PIGN):c.329_549+1907del
NM_176787.5(PIGN):c.347G>A (p.Trp116Ter) rs2147517821
NM_176787.5(PIGN):c.408G>A (p.Trp136Ter)
NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)
NM_176787.5(PIGN):c.491_492del (p.Glu164fs) rs748817187
NM_176787.5(PIGN):c.530G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.531G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.601G>T (p.Glu201Ter)
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)
NM_176787.5(PIGN):c.604_608del (p.Glu202fs)
NM_176787.5(PIGN):c.620del (p.Phe207fs) rs1237915292
NM_176787.5(PIGN):c.629T>G (p.Leu210Ter)
NM_176787.5(PIGN):c.637del (p.Gly212_Ile213insTer)
NM_176787.5(PIGN):c.718G>T (p.Glu240Ter)
NM_176787.5(PIGN):c.804G>T (p.Trp268Cys) rs1057520345
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186
NM_176787.5(PIGN):c.817dup (p.Ala273fs)
NM_176787.5(PIGN):c.858G>A (p.Trp286Ter)
NM_176787.5(PIGN):c.895C>T (p.Gln299Ter)
NM_176787.5(PIGN):c.917dup (p.Leu306fs)
NM_176787.5(PIGN):c.941G>A (p.Trp314Ter)

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