ClinVar Miner

List of variants in gene PIGV studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_017837.4(PIGV):c.1201-190G>A rs74827250 0.05818
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_017837.3(PIGV):c.-370G>A rs71636780 0.05676
NM_017837.4(PIGV):c.1200+205G>A rs146091102 0.02218
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_017837.4(PIGV):c.-58+430G>A rs113210202 0.00790
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) rs146969255 0.00109
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser) rs147396061 0.00051
NM_017837.4(PIGV):c.390T>C (p.Ala130=) rs139724134 0.00037
NM_017837.4(PIGV):c.879G>A (p.Pro293=) rs147229452 0.00031
NM_017837.4(PIGV):c.94A>G (p.Ile32Val) rs147565152 0.00026
NM_017837.4(PIGV):c.1200+13C>T rs574830374 0.00024
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_017837.4(PIGV):c.134G>A (p.Arg45His) rs148135928 0.00011
NM_017837.4(PIGV):c.786A>T (p.Gln262His) rs769687257 0.00011
NM_017837.4(PIGV):c.428A>G (p.His143Arg) rs371892825 0.00010
NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu) rs146467198 0.00009
NM_017837.4(PIGV):c.1084A>C (p.Lys362Gln) rs376257064 0.00007
NM_017837.4(PIGV):c.1453C>T (p.Leu485=) rs751093917 0.00007
NM_017837.4(PIGV):c.133C>T (p.Arg45Cys) rs752514953 0.00006
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr) rs387907023 0.00006
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) rs374158705 0.00006
NM_017837.4(PIGV):c.980A>G (p.Asn327Ser) rs142884955 0.00006
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) rs369275802 0.00005
NM_017837.4(PIGV):c.1293A>G (p.Leu431=) rs143218027 0.00005
NM_017837.4(PIGV):c.482A>G (p.Asn161Ser) rs767117669 0.00005
NM_017837.4(PIGV):c.783C>T (p.Thr261=) rs141862926 0.00005
NM_017837.4(PIGV):c.804A>G (p.Ser268=) rs745595984 0.00005
NM_017837.4(PIGV):c.809G>A (p.Arg270His) rs149379900 0.00005
NM_017837.4(PIGV):c.1089C>A (p.Asn363Lys) rs904668661 0.00004
NM_017837.4(PIGV):c.1189A>G (p.Met397Val) rs778672695 0.00004
NM_017837.4(PIGV):c.1324G>T (p.Asp442Tyr) rs201804133 0.00004
NM_017837.4(PIGV):c.316C>T (p.Arg106Trp) rs372631555 0.00004
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) rs766452597 0.00004
NM_017837.4(PIGV):c.1006A>G (p.Ile336Val) rs758278375 0.00003
NM_017837.4(PIGV):c.1067T>G (p.Leu356Arg) rs988022455 0.00003
NM_017837.4(PIGV):c.1110C>T (p.Pro370=) rs760863759 0.00003
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) rs145160045 0.00003
NM_017837.4(PIGV):c.1481G>C (p.Ter494Ser) rs748710132 0.00003
NM_017837.4(PIGV):c.534C>T (p.Phe178=) rs1392626425 0.00003
NM_017837.4(PIGV):c.638T>C (p.Leu213Pro) rs146852030 0.00003
NM_017837.4(PIGV):c.856C>T (p.Arg286Trp) rs539783121 0.00003
NM_017837.4(PIGV):c.986T>A (p.Leu329Gln) rs997028891 0.00003
NM_017837.4(PIGV):c.1035C>T (p.Tyr345=) rs781067583 0.00002
NM_017837.4(PIGV):c.1147G>A (p.Val383Met) rs765449173 0.00002
NM_017837.4(PIGV):c.1278G>A (p.Pro426=) rs575831229 0.00002
NM_017837.4(PIGV):c.1281G>C (p.Leu427=) rs1194091686 0.00002
NM_017837.4(PIGV):c.1372T>C (p.Leu458=) rs779812378 0.00002
NM_017837.4(PIGV):c.1414C>G (p.Leu472Val) rs771177205 0.00002
NM_017837.4(PIGV):c.184G>A (p.Gly62Ser) rs777251503 0.00002
NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) rs760514806 0.00002
NM_017837.4(PIGV):c.335G>A (p.Arg112His) rs757137280 0.00002
NM_017837.4(PIGV):c.346C>T (p.Leu116=) rs149582139 0.00002
NM_017837.4(PIGV):c.450T>C (p.Tyr150=) rs765065261 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_017837.4(PIGV):c.5G>C (p.Trp2Ser) rs768302053 0.00002
NM_017837.4(PIGV):c.651A>G (p.Gln217=) rs769635231 0.00002
NM_017837.4(PIGV):c.680T>G (p.Met227Arg) rs781524183 0.00002
NM_017837.4(PIGV):c.731C>T (p.Ser244Leu) rs148083457 0.00002
NM_017837.4(PIGV):c.732G>A (p.Ser244=) rs763773056 0.00002
NM_017837.4(PIGV):c.78+18T>C rs765535086 0.00002
NM_017837.4(PIGV):c.874G>A (p.Glu292Lys) rs1310524839 0.00002
NM_017837.4(PIGV):c.876A>G (p.Glu292=) rs756422269 0.00002
NM_017837.4(PIGV):c.997C>T (p.Pro333Ser) rs1359389792 0.00002
NM_017837.4(PIGV):c.999A>C (p.Pro333=) rs764422244 0.00002
NM_017837.4(PIGV):c.-62C>T rs1229317654 0.00001
NM_017837.4(PIGV):c.1185G>T (p.Leu395=) rs770515611 0.00001
NM_017837.4(PIGV):c.1220G>C (p.Gly407Ala) rs1330977790 0.00001
NM_017837.4(PIGV):c.1227C>T (p.Ser409=) rs756021930 0.00001
NM_017837.4(PIGV):c.1313C>T (p.Pro438Leu) rs766533625 0.00001
NM_017837.4(PIGV):c.1317T>C (p.Leu439=) rs959088580 0.00001
NM_017837.4(PIGV):c.1364T>C (p.Met455Thr) rs749892627 0.00001
NM_017837.4(PIGV):c.1403C>G (p.Thr468Arg) rs1463066620 0.00001
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro) rs774605091 0.00001
NM_017837.4(PIGV):c.1444G>A (p.Gly482Arg) rs761689645 0.00001
NM_017837.4(PIGV):c.1448T>G (p.Leu483Arg) rs149327962 0.00001
NM_017837.4(PIGV):c.1455A>G (p.Leu485=) rs755373441 0.00001
NM_017837.4(PIGV):c.183C>T (p.Gly61=) rs769117896 0.00001
NM_017837.4(PIGV):c.199G>A (p.Asp67Asn) rs773179141 0.00001
NM_017837.4(PIGV):c.22C>T (p.Arg8Trp) rs769363441 0.00001
NM_017837.4(PIGV):c.287T>C (p.Leu96Pro) rs1056953594 0.00001
NM_017837.4(PIGV):c.360A>G (p.Ala120=) rs754600059 0.00001
NM_017837.4(PIGV):c.455C>A (p.Ala152Asp) rs773349099 0.00001
NM_017837.4(PIGV):c.563G>A (p.Arg188Gln) rs368069947 0.00001
NM_017837.4(PIGV):c.56G>A (p.Arg19His) rs767977785 0.00001
NM_017837.4(PIGV):c.580C>T (p.Leu194Phe) rs979756603 0.00001
NM_017837.4(PIGV):c.600T>C (p.Thr200=) rs946539785 0.00001
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) rs149690056 0.00001
NM_017837.4(PIGV):c.626G>C (p.Ser209Thr) rs1434086651 0.00001
NM_017837.4(PIGV):c.677C>T (p.Thr226Met) rs942066811 0.00001
NM_017837.4(PIGV):c.735G>A (p.Val245=) rs762221948 0.00001
NM_017837.4(PIGV):c.769T>C (p.Tyr257His) rs1228126006 0.00001
NM_017837.4(PIGV):c.792T>C (p.Cys264=) rs1479536801 0.00001
NM_017837.4(PIGV):c.844_846del (p.Asp282del) rs2081360507 0.00001
NM_017837.4(PIGV):c.861T>C (p.Ile287=) rs1306086594 0.00001
NM_017837.4(PIGV):c.959A>G (p.Tyr320Cys) rs148610857 0.00001
NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) rs774991514 0.00001
GRCh37/hg19 1p36.11(chr1:27124054-27124335)x1
NC_000001.10:g.(?_27120584)_(27124335_?)del
NC_000001.10:g.(?_27124034)_(27124335_?)del
NM_017837.4(PIGV):c.-333C>T rs118069986
NM_017837.4(PIGV):c.-57-7G>A
NM_017837.4(PIGV):c.-8G>T rs757511396
NM_017837.4(PIGV):c.1004_1007dup (p.Leu337fs) rs2124197173
NM_017837.4(PIGV):c.1044T>A (p.Thr348=)
NM_017837.4(PIGV):c.1048C>T (p.Pro350Ser) rs2124197374
NM_017837.4(PIGV):c.1050T>G (p.Pro350=)
NM_017837.4(PIGV):c.1060C>G (p.Leu354Val) rs1421801921
NM_017837.4(PIGV):c.1071G>A (p.Gly357=) rs2124197474
NM_017837.4(PIGV):c.1074G>A (p.Leu358=)
NM_017837.4(PIGV):c.1074G>T (p.Leu358=)
NM_017837.4(PIGV):c.1080G>A (p.Arg360=)
NM_017837.4(PIGV):c.1085A>G (p.Lys362Arg)
NM_017837.4(PIGV):c.1091A>G (p.Asn364Ser)
NM_017837.4(PIGV):c.109C>G (p.His37Asp) rs2124193075
NM_017837.4(PIGV):c.1107G>T (p.Lys369Asn) rs2124197664
NM_017837.4(PIGV):c.1109C>T (p.Pro370Leu)
NM_017837.4(PIGV):c.1111G>A (p.Asp371Asn) rs764074675
NM_017837.4(PIGV):c.111T>C (p.His37=) rs1057523852
NM_017837.4(PIGV):c.111T>G (p.His37Gln)
NM_017837.4(PIGV):c.1122C>T (p.Phe374=)
NM_017837.4(PIGV):c.1134G>A (p.Gln378=)
NM_017837.4(PIGV):c.1146C>T (p.Tyr382=)
NM_017837.4(PIGV):c.1155C>A (p.His385Gln) rs200817594
NM_017837.4(PIGV):c.1155C>T (p.His385=) rs200817594
NM_017837.4(PIGV):c.1156G>A (p.Ala386Thr) rs1430247948
NM_017837.4(PIGV):c.1158T>C (p.Ala386=)
NM_017837.4(PIGV):c.1168C>T (p.Leu390=)
NM_017837.4(PIGV):c.1200+18C>A
NM_017837.4(PIGV):c.1200+196C>A rs115960004
NM_017837.4(PIGV):c.1200+1G>T
NM_017837.4(PIGV):c.1201-17C>A
NM_017837.4(PIGV):c.1201-3_1201-2dup
NM_017837.4(PIGV):c.1201-6T>C
NM_017837.4(PIGV):c.120C>T (p.Ala40=)
NM_017837.4(PIGV):c.1220G>A (p.Gly407Asp) rs1330977790
NM_017837.4(PIGV):c.1228A>T (p.Thr410Ser)
NM_017837.4(PIGV):c.1238T>C (p.Met413Thr) rs2081400850
NM_017837.4(PIGV):c.1242C>T (p.Tyr414=) rs1570649503
NM_017837.4(PIGV):c.1269T>C (p.Asp423=)
NM_017837.4(PIGV):c.126_127del (p.Pro43fs) rs2124193130
NM_017837.4(PIGV):c.1272A>G (p.Gln424=) rs1356659073
NM_017837.4(PIGV):c.1282T>C (p.Leu428=) rs2124207789
NM_017837.4(PIGV):c.1286G>C (p.Arg429Thr)
NM_017837.4(PIGV):c.129T>G (p.Pro43=)
NM_017837.4(PIGV):c.1306T>C (p.Trp436Arg)
NM_017837.4(PIGV):c.130C>G (p.Pro44Ala) rs2124193175
NM_017837.4(PIGV):c.130C>T (p.Pro44Ser) rs2124193175
NM_017837.4(PIGV):c.1318G>A (p.Ala440Thr)
NM_017837.4(PIGV):c.1332A>C (p.Pro444=)
NM_017837.4(PIGV):c.1339C>A (p.Gln447Lys)
NM_017837.4(PIGV):c.1339C>G (p.Gln447Glu)
NM_017837.4(PIGV):c.1341A>G (p.Gln447=)
NM_017837.4(PIGV):c.1344G>A (p.Lys448=)
NM_017837.4(PIGV):c.1353A>G (p.Arg451=)
NM_017837.4(PIGV):c.1363A>T (p.Met455Leu) rs2124208341
NM_017837.4(PIGV):c.1366G>A (p.Gly456Arg)
NM_017837.4(PIGV):c.1368A>T (p.Gly456=)
NM_017837.4(PIGV):c.1392T>C (p.Cys464=)
NM_017837.4(PIGV):c.1398A>G (p.Pro466=)
NM_017837.4(PIGV):c.1404A>G (p.Thr468=)
NM_017837.4(PIGV):c.1405C>G (p.Arg469Gly)
NM_017837.4(PIGV):c.1405C>T (p.Arg469Ter) rs770220740
NM_017837.4(PIGV):c.1425C>G (p.Phe475Leu)
NM_017837.4(PIGV):c.1430C>T (p.Thr477Ile)
NM_017837.4(PIGV):c.1431T>C (p.Thr477=)
NM_017837.4(PIGV):c.1436G>A (p.Trp479Ter) rs2124208803
NM_017837.4(PIGV):c.1439_1440insTACCATTGACCTGTGTGTAAATTTAAATGTCAATTTATTGAAGTGTAAATTTCATCAAAGGCATTAG (p.Leu480_Leu481insThrIleAspLeuCysValAsnLeuAsnValAsnLeuLeuLysCysLysPheHisGlnArgHisTer)
NM_017837.4(PIGV):c.1440_*301del (p.Leu481fs) rs2124208859
NM_017837.4(PIGV):c.1445G>C (p.Gly482Ala) rs1204745319
NM_017837.4(PIGV):c.1445_1448dup (p.Leu484fs)
NM_017837.4(PIGV):c.1452C>G (p.Leu484=) rs148409472
NM_017837.4(PIGV):c.1477A>G (p.Thr493Ala) rs1057515548
NM_017837.4(PIGV):c.1479A>G (p.Thr493=)
NM_017837.4(PIGV):c.148G>T (p.Gly50Cys)
NM_017837.4(PIGV):c.158A>G (p.Asp53Gly) rs771869741
NM_017837.4(PIGV):c.165C>T (p.Leu55=) rs2081348576
NM_017837.4(PIGV):c.180G>C (p.Leu60=)
NM_017837.4(PIGV):c.181G>A (p.Gly61Ser)
NM_017837.4(PIGV):c.186C>T (p.Gly62=)
NM_017837.4(PIGV):c.198G>A (p.Trp66Ter)
NM_017837.4(PIGV):c.214T>C (p.Leu72=)
NM_017837.4(PIGV):c.222T>C (p.Ile74=)
NM_017837.4(PIGV):c.23G>A (p.Arg8Gln) rs368673102
NM_017837.4(PIGV):c.23G>T (p.Arg8Leu) rs368673102
NM_017837.4(PIGV):c.262T>C (p.Phe88Leu) rs2081350104
NM_017837.4(PIGV):c.266C>T (p.Pro89Leu) rs2124193748
NM_017837.4(PIGV):c.268G>A (p.Gly90Ser) rs201121029
NM_017837.4(PIGV):c.27G>A (p.Lys9=)
NM_017837.4(PIGV):c.285G>C (p.Leu95=)
NM_017837.4(PIGV):c.288G>T (p.Leu96=)
NM_017837.4(PIGV):c.304T>C (p.Leu102=) rs2124193880
NM_017837.4(PIGV):c.317G>A (p.Arg106Gln)
NM_017837.4(PIGV):c.321G>A (p.Gly107=)
NM_017837.4(PIGV):c.324A>G (p.Leu108=)
NM_017837.4(PIGV):c.325C>T (p.Leu109=) rs2124194011
NM_017837.4(PIGV):c.327G>A (p.Leu109=)
NM_017837.4(PIGV):c.331C>T (p.Leu111=)
NM_017837.4(PIGV):c.333A>G (p.Leu111=) rs1186562909
NM_017837.4(PIGV):c.333A>T (p.Leu111=) rs1186562909
NM_017837.4(PIGV):c.334C>A (p.Arg112Ser)
NM_017837.4(PIGV):c.334C>T (p.Arg112Cys)
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_017837.4(PIGV):c.354G>A (p.Ser118=) rs765982367
NM_017837.4(PIGV):c.354G>C (p.Ser118=) rs765982367
NM_017837.4(PIGV):c.368A>G (p.Asn123Ser) rs1267164610
NM_017837.4(PIGV):c.37A>G (p.Arg13Gly)
NM_017837.4(PIGV):c.39G>A (p.Arg13=) rs770642893
NM_017837.4(PIGV):c.409C>G (p.Leu137Val)
NM_017837.4(PIGV):c.418C>T (p.Leu140=)
NM_017837.4(PIGV):c.420G>A (p.Leu140=)
NM_017837.4(PIGV):c.420G>T (p.Leu140=)
NM_017837.4(PIGV):c.423T>G (p.Val141=)
NM_017837.4(PIGV):c.434C>T (p.Pro145Leu)
NM_017837.4(PIGV):c.439C>G (p.Gln147Glu) rs185641230
NM_017837.4(PIGV):c.446T>G (p.Phe149Cys)
NM_017837.4(PIGV):c.452C>G (p.Ala151Gly) rs1057524351
NM_017837.4(PIGV):c.45A>G (p.Ala15=)
NM_017837.4(PIGV):c.467G>C (p.Cys156Ser)
NM_017837.4(PIGV):c.474C>T (p.Ser158=)
NM_017837.4(PIGV):c.479C>T (p.Ala160Val) rs2124194794
NM_017837.4(PIGV):c.481A>C (p.Asn161His)
NM_017837.4(PIGV):c.498T>C (p.Ala166=)
NM_017837.4(PIGV):c.499G>A (p.Gly167Ser)
NM_017837.4(PIGV):c.499G>T (p.Gly167Cys) rs756498571
NM_017837.4(PIGV):c.504C>T (p.Tyr168=)
NM_017837.4(PIGV):c.50G>C (p.Ser17Thr) rs773837990
NM_017837.4(PIGV):c.524T>C (p.Leu175Pro)
NM_017837.4(PIGV):c.525C>T (p.Leu175=) rs2081354671
NM_017837.4(PIGV):c.526C>G (p.Leu176Val) rs2124194977
NM_017837.4(PIGV):c.531A>G (p.Thr177=)
NM_017837.4(PIGV):c.549G>A (p.Gln183=) rs1570643643
NM_017837.4(PIGV):c.565G>T (p.Val189Phe)
NM_017837.4(PIGV):c.576T>C (p.Ser192=)
NM_017837.4(PIGV):c.577G>A (p.Val193Ile)
NM_017837.4(PIGV):c.606A>G (p.Val202=) rs2124195367
NM_017837.4(PIGV):c.608G>A (p.Arg203His)
NM_017837.4(PIGV):c.615C>G (p.Asn205Lys) rs34512715
NM_017837.4(PIGV):c.621G>A (p.Leu207=)
NM_017837.4(PIGV):c.628G>A (p.Val210Ile)
NM_017837.4(PIGV):c.639C>T (p.Leu213=)
NM_017837.4(PIGV):c.644A>G (p.His215Arg) rs2081357058
NM_017837.4(PIGV):c.650A>C (p.Gln217Pro) rs2081357206
NM_017837.4(PIGV):c.659G>T (p.Gly220Val)
NM_017837.4(PIGV):c.660C>G (p.Gly220=) rs1186239174
NM_017837.4(PIGV):c.660C>T (p.Gly220=)
NM_017837.4(PIGV):c.663T>C (p.Phe221=)
NM_017837.4(PIGV):c.671_673del (p.Ser224del) rs2124195736
NM_017837.4(PIGV):c.678G>A (p.Thr226=) rs769023704
NM_017837.4(PIGV):c.684G>A (p.Leu228=) rs551364712
NM_017837.4(PIGV):c.691C>T (p.Leu231=)
NM_017837.4(PIGV):c.695G>A (p.Arg232Lys)
NM_017837.4(PIGV):c.700C>G (p.Leu234Val)
NM_017837.4(PIGV):c.702C>A (p.Leu234=) rs2124195872
NM_017837.4(PIGV):c.705T>C (p.Phe235=)
NM_017837.4(PIGV):c.732G>C (p.Ser244=)
NM_017837.4(PIGV):c.736T>C (p.Phe246Leu) rs2124196074
NM_017837.4(PIGV):c.737del (p.Phe246fs) rs2124196083
NM_017837.4(PIGV):c.738C>T (p.Phe246=)
NM_017837.4(PIGV):c.742C>T (p.Leu248Phe)
NM_017837.4(PIGV):c.753C>T (p.Pro251=) rs751691440
NM_017837.4(PIGV):c.759C>T (p.Ala253=)
NM_017837.4(PIGV):c.765T>C (p.Phe255=)
NM_017837.4(PIGV):c.771T>C (p.Tyr257=)
NM_017837.4(PIGV):c.78+11_78+12insGGGA rs2124181401
NM_017837.4(PIGV):c.78+12A>T
NM_017837.4(PIGV):c.78+15C>T
NM_017837.4(PIGV):c.78+20T>G
NM_017837.4(PIGV):c.781dup (p.Thr261fs) rs1418108487
NM_017837.4(PIGV):c.785A>G (p.Gln262Arg)
NM_017837.4(PIGV):c.79-19G>A
NM_017837.4(PIGV):c.79-3C>T
NM_017837.4(PIGV):c.792_795delinsGTGGGGACAGTGCAAAACCAGACAACCCAGGTCATGAAGTGCAACTGCAGCCAACATGAAGAACAAGAAATTGAGTGATGCTACCGAAATCA (p.Cys264_Leu265delinsTrpTrpGlyGlnCysLysThrArgGlnProArgSerTer)
NM_017837.4(PIGV):c.809G>C (p.Arg270Pro) rs149379900
NM_017837.4(PIGV):c.819T>G (p.Pro273=)
NM_017837.4(PIGV):c.823C>A (p.Pro275Thr)
NM_017837.4(PIGV):c.828G>A (p.Leu276=)
NM_017837.4(PIGV):c.838G>T (p.Ala280Ser)
NM_017837.4(PIGV):c.847A>G (p.Lys283Glu) rs2124196479
NM_017837.4(PIGV):c.851G>A (p.Gly284Asp) rs557206710
NM_017837.4(PIGV):c.854A>G (p.Tyr285Cys) rs755167830
NM_017837.4(PIGV):c.857G>A (p.Arg286Gln)
NM_017837.4(PIGV):c.865G>A (p.Glu289Lys)
NM_017837.4(PIGV):c.867G>A (p.Glu289=) rs2124196645
NM_017837.4(PIGV):c.87C>G (p.Phe29Leu)
NM_017837.4(PIGV):c.881del (p.Pro294fs) rs1297288333
NM_017837.4(PIGV):c.88A>G (p.Asn30Asp) rs2081347319
NM_017837.4(PIGV):c.920T>C (p.Ile307Thr) rs370558069
NM_017837.4(PIGV):c.923A>G (p.Gln308Arg) rs1234266577
NM_017837.4(PIGV):c.936G>T (p.Trp312Cys) rs1162224599
NM_017837.4(PIGV):c.960T>C (p.Tyr320=)
NM_017837.4(PIGV):c.96C>T (p.Ile32=)
NM_017837.4(PIGV):c.972G>A (p.Gln324=)
NM_017837.4(PIGV):c.978C>T (p.Pro326=)
NM_017837.4(PIGV):c.996A>T (p.Ala332=)

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