ClinVar Miner

List of variants in gene PROC studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 356
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.535+44A>G rs1878844 0.99385
NM_000312.4(PROC):c.423G>T (p.Ser141=) rs5936 0.69846
NC_000002.12:g.127418299G>A rs1799809 0.51466
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NC_000002.12:g.127418286C>T rs1799808 0.32970
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_000312.4(PROC):c.400+13G>A rs116738363 0.01228
NM_000312.4(PROC):c.630G>A (p.Pro210=) rs2069927 0.01043
NM_000312.4(PROC):c.-33C>T rs116169054 0.00873
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00427
NM_000312.4(PROC):c.924C>T (p.Pro308=) rs13388546 0.00422
NM_000312.4(PROC):c.536-6C>T rs148108718 0.00357
NM_000312.4(PROC):c.-21-5C>T rs41269833 0.00172
NM_000312.4(PROC):c.*146T>C rs140461934 0.00158
NM_000312.4(PROC):c.891C>T (p.Asp297=) rs5935 0.00115
NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) rs145800354 0.00095
NM_000312.4(PROC):c.66T>C (p.Pro22=) rs144300387 0.00092
NM_000312.4(PROC):c.462G>A (p.Glu154=) rs201952795 0.00076
NM_000312.4(PROC):c.30C>T (p.Phe10=) rs148490199 0.00059
NM_000312.4(PROC):c.71-17C>T rs138057813 0.00046
NM_000312.4(PROC):c.1299C>T (p.Gly433=) rs151319700 0.00032
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000312.4(PROC):c.1161T>C (p.Cys387=) rs148855579 0.00024
NM_000312.4(PROC):c.263-4G>A rs373494631 0.00024
NM_000312.4(PROC):c.-54G>A rs2069936 0.00020
NM_000312.4(PROC):c.1212G>A (p.Gly404=) rs370637632 0.00016
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) rs139741458 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_000312.4(PROC):c.*170G>T rs563767423 0.00009
NM_000312.4(PROC):c.714C>T (p.Cys238=) rs141249033 0.00009
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000312.4(PROC):c.678+10G>A rs776905824 0.00008
NM_000312.4(PROC):c.322C>A (p.His108Asn) rs200234655 0.00007
NM_000312.4(PROC):c.*152T>C rs1054891637 0.00006
NM_000312.4(PROC):c.52G>A (p.Gly18Ser) rs146793243 0.00006
NM_000312.4(PROC):c.400+6G>T rs527647588 0.00005
NM_000312.4(PROC):c.489G>A (p.Ala163=) rs764364831 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000312.4(PROC):c.1065C>T (p.Asn355=) rs548020208 0.00004
NM_000312.4(PROC):c.112C>T (p.Arg38Trp) rs769900251 0.00004
NM_000312.4(PROC):c.1272G>A (p.Glu424=) rs770534863 0.00004
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) rs767626189 0.00004
NM_000312.4(PROC):c.39C>T (p.Thr13=) rs748548752 0.00004
NM_000312.4(PROC):c.534A>G (p.Ala178=) rs368367611 0.00004
NM_000312.4(PROC):c.571G>C (p.Glu191Gln) rs777364878 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_000312.4(PROC):c.730C>T (p.His244Tyr) rs759557871 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.900C>T (p.Ile300=) rs112356403 0.00004
NM_000312.4(PROC):c.970G>A (p.Gly324Ser) rs571278160 0.00004
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) rs886054848 0.00003
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 0.00003
NM_000312.4(PROC):c.752C>T (p.Ala251Val) rs568121876 0.00003
NM_000312.4(PROC):c.876C>G (p.Ser292Arg) rs1688669245 0.00003
NM_000312.4(PROC):c.*72C>A rs546314105 0.00002
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000312.4(PROC):c.1066C>T (p.Arg356Cys) rs776173921 0.00002
NM_000312.4(PROC):c.1077C>G (p.Val359=) rs766061833 0.00002
NM_000312.4(PROC):c.1233C>T (p.His411=) rs777430545 0.00002
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) rs376049280 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.566G>A (p.Arg189Gln) rs1270397879 0.00002
NM_000312.4(PROC):c.596G>A (p.Arg199Gln) rs773327173 0.00002
NM_000312.4(PROC):c.60A>G (p.Pro20=) rs1282935697 0.00002
NM_000312.4(PROC):c.638T>C (p.Ile213Thr) rs753097748 0.00002
NM_000312.4(PROC):c.810G>C (p.Leu270=) rs371007615 0.00002
NM_000312.4(PROC):c.91G>A (p.Glu31Lys) rs779710709 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000312.4(PROC):c.969C>T (p.Ser323=) rs568793026 0.00002
NM_000312.4(PROC):c.-55C>T rs886054845 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1043G>A (p.Arg348Gln) rs201827066 0.00001
NM_000312.4(PROC):c.1099G>A (p.Val367Met) rs140582220 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.1110C>A (p.His370Gln) rs778063605 0.00001
NM_000312.4(PROC):c.1120A>G (p.Ser374Gly) rs757880924 0.00001
NM_000312.4(PROC):c.1122C>T (p.Ser374=) rs187228759 0.00001
NM_000312.4(PROC):c.118C>T (p.Arg40Cys) rs199514227 0.00001
NM_000312.4(PROC):c.1195G>A (p.Glu399Lys) rs764239787 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 0.00001
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) rs572021052 0.00001
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) rs768759265 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000312.4(PROC):c.125G>A (p.Arg42His) rs369504169 0.00001
NM_000312.4(PROC):c.1296C>T (p.Tyr432=) rs765303744 0.00001
NM_000312.4(PROC):c.1326C>T (p.Leu442=) rs748650244 0.00001
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) rs200012319 0.00001
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) rs121918157 0.00001
NM_000312.4(PROC):c.1338T>C (p.His446=) rs1381198827 0.00001
NM_000312.4(PROC):c.286C>T (p.Pro96Ser) rs774908523 0.00001
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) rs374476971 0.00001
NM_000312.4(PROC):c.372C>G (p.Ser124Arg) rs939496684 0.00001
NM_000312.4(PROC):c.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.433G>A (p.Gly145Ser) rs370813536 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 0.00001
NM_000312.4(PROC):c.446A>C (p.His149Pro) rs121918159 0.00001
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) rs1450037999 0.00001
NM_000312.4(PROC):c.51C>T (p.Ser17=) rs770171684 0.00001
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) rs199469474 0.00001
NM_000312.4(PROC):c.528C>T (p.His176=) rs1483588887 0.00001
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) rs1456533664 0.00001
NM_000312.4(PROC):c.602C>T (p.Thr201Ile) rs886054847 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.660G>A (p.Arg220=) rs1688487502 0.00001
NM_000312.4(PROC):c.70+13C>G rs200660332 0.00001
NM_000312.4(PROC):c.702G>A (p.Lys234=) rs1382362525 0.00001
NM_000312.4(PROC):c.715G>A (p.Gly239Arg) rs777486993 0.00001
NM_000312.4(PROC):c.735C>G (p.Pro245=) rs775976369 0.00001
NM_000312.4(PROC):c.759C>A (p.His253Gln) rs1458669732 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.837C>T (p.Asp279=) rs778740796 0.00001
NM_000312.4(PROC):c.852G>A (p.Glu284=) rs780286813 0.00001
NM_000312.4(PROC):c.881G>A (p.Ser294Asn) rs200721675 0.00001
NM_000312.4(PROC):c.888C>T (p.Thr296=) rs759229398 0.00001
NM_000312.4(PROC):c.935C>T (p.Ser312Leu) rs121918160 0.00001
NM_000312.4(PROC):c.936G>A (p.Ser312=) rs199679356 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NC_000002.11:g.(?_128175983)_(128184818_?)del
NC_000002.11:g.(?_128176278)_(128177573_?)del
NC_000002.12:g.127418412T>C
NC_000002.12:g.127418425T>C rs2104934553
NM_000312.4(PROC):c.*176T>C rs150393087
NM_000312.4(PROC):c.*220G>C rs886054849
NM_000312.4(PROC):c.*81T>C rs1688720421
NM_000312.4(PROC):c.1000G>T (p.Gly334Cys) rs121918150
NM_000312.4(PROC):c.1005G>A (p.Gln335=)
NM_000312.4(PROC):c.1005G>C (p.Gln335His)
NM_000312.4(PROC):c.1010C>T (p.Thr337Ile) rs369881972
NM_000312.4(PROC):c.1014C>T (p.Leu338=)
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) rs766261022
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) rs121918147
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000312.4(PROC):c.1048A>G (p.Lys350Glu)
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) rs769300513
NM_000312.4(PROC):c.1074C>T (p.Phe358=)
NM_000312.4(PROC):c.1080C>G (p.Leu360=) rs2104983090
NM_000312.4(PROC):c.1084T>A (p.Phe362Ile) rs2104983099
NM_000312.4(PROC):c.1098C>T (p.Pro366=)
NM_000312.4(PROC):c.1117T>A (p.Cys373Ser)
NM_000312.4(PROC):c.1142T>C (p.Val381Ala)
NM_000312.4(PROC):c.1154T>C (p.Met385Thr) rs1688692269
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.1163C>G (p.Ala388Gly)
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1164G>A (p.Ala388=) rs373028935
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.4(PROC):c.1173C>T (p.Leu391=)
NM_000312.4(PROC):c.1177G>A (p.Asp393Asn)
NM_000312.4(PROC):c.1179C>T (p.Asp393=)
NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)
NM_000312.4(PROC):c.1181G>A (p.Arg394Gln)
NM_000312.4(PROC):c.1196A>C (p.Glu399Ala)
NM_000312.4(PROC):c.1200C>T (p.Gly400=)
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.1217T>A (p.Met406Lys)
NM_000312.4(PROC):c.1221C>T (p.Val407=)
NM_000312.4(PROC):c.1222G>A (p.Ala408Thr)
NM_000312.4(PROC):c.1230C>T (p.Phe410=) rs1688703290
NM_000312.4(PROC):c.1236C>T (p.Gly412=)
NM_000312.4(PROC):c.1240T>C (p.Trp414Arg)
NM_000312.4(PROC):c.1242G>A (p.Trp414Ter) rs1558718572
NM_000312.4(PROC):c.1248G>T (p.Leu416=) rs1688705028
NM_000312.4(PROC):c.1249G>A (p.Val417Met)
NM_000312.4(PROC):c.1249G>C (p.Val417Leu)
NM_000312.4(PROC):c.1260G>A (p.Val420=)
NM_000312.4(PROC):c.1265G>A (p.Trp422Ter)
NM_000312.4(PROC):c.1266G>A (p.Trp422Ter) rs2104984463
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser) rs1688706297
NM_000312.4(PROC):c.1268del (p.Gly423fs)
NM_000312.4(PROC):c.1278T>C (p.Cys426=)
NM_000312.4(PROC):c.1281G>T (p.Gly427=)
NM_000312.4(PROC):c.1287T>C (p.Leu429=)
NM_000312.4(PROC):c.1297G>A (p.Gly433Ser) rs1266965698
NM_000312.4(PROC):c.1305del (p.Val434_Tyr435insTer) rs2104984686
NM_000312.4(PROC):c.1307C>T (p.Thr436Ile)
NM_000312.4(PROC):c.1313T>C (p.Val438Ala) rs1573461697
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
NM_000312.4(PROC):c.1329C>T (p.Asp443=)
NM_000312.4(PROC):c.132C>T (p.Asn44=) rs775598456
NM_000312.4(PROC):c.1331G>A (p.Trp444Ter) rs1573461792
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) rs121918142
NM_000312.4(PROC):c.1335C>T (p.Ile445=)
NM_000312.4(PROC):c.1368del (p.Lys457fs) rs1573461951
NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs) rs1573462001
NM_000312.4(PROC):c.138C>G (p.Phe46Leu)
NM_000312.4(PROC):c.139C>T (p.Leu47=) rs2104944542
NM_000312.4(PROC):c.144G>A (p.Glu48=)
NM_000312.4(PROC):c.156C>G (p.His52Gln) rs1558712064
NM_000312.4(PROC):c.164T>C (p.Leu55Pro)
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.186G>A (p.Glu62=)
NM_000312.4(PROC):c.198C>T (p.Phe66=)
NM_000312.4(PROC):c.199G>A (p.Glu67Lys) rs1448630830
NM_000312.4(PROC):c.205G>A (p.Ala69Thr) rs2104944789
NM_000312.4(PROC):c.206C>T (p.Ala69Val) rs984698204
NM_000312.4(PROC):c.208A>G (p.Lys70Glu)
NM_000312.4(PROC):c.20T>C (p.Leu7Pro)
NM_000312.4(PROC):c.236C>G (p.Thr79Arg)
NM_000312.4(PROC):c.237+15G>A
NM_000312.4(PROC):c.237+18C>A
NM_000312.4(PROC):c.238-12CT[2]
NM_000312.4(PROC):c.238-1G>A rs1553423955
NM_000312.4(PROC):c.250T>C (p.Ser84Pro)
NM_000312.4(PROC):c.262+14A>G
NM_000312.4(PROC):c.262+18C>T
NM_000312.4(PROC):c.262+6T>G
NM_000312.4(PROC):c.263-14G>T
NM_000312.4(PROC):c.263-19A>T
NM_000312.4(PROC):c.263-28T>G rs2104952137
NM_000312.4(PROC):c.26T>C (p.Leu9Pro)
NM_000312.4(PROC):c.282C>T (p.Val94=) rs1688213562
NM_000312.4(PROC):c.299C>G (p.Pro100Arg) rs945459808
NM_000312.4(PROC):c.300G>A (p.Pro100=) rs776372871
NM_000312.4(PROC):c.300G>C (p.Pro100=)
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.319G>A (p.Gly107Arg)
NM_000312.4(PROC):c.325G>T (p.Gly109Cys) rs1156578125
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) rs1688218776
NM_000312.4(PROC):c.338_346del (p.Asp113_Ile115del)
NM_000312.4(PROC):c.339C>T (p.Asp113=)
NM_000312.4(PROC):c.340G>T (p.Gly114Cys) rs374476971
NM_000312.4(PROC):c.346G>C (p.Gly116Arg)
NM_000312.4(PROC):c.352T>C (p.Phe118Leu) rs1553424043
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000312.4(PROC):c.360C>A (p.Cys120Ter)
NM_000312.4(PROC):c.364T>G (p.Cys122Gly)
NM_000312.4(PROC):c.382G>C (p.Gly128Arg)
NM_000312.4(PROC):c.388T>C (p.Phe130Leu) rs1558713430
NM_000312.4(PROC):c.400+19T>G
NM_000312.4(PROC):c.400+1G>A rs1189377845
NM_000312.4(PROC):c.400+2T>A
NM_000312.4(PROC):c.400+2T>C rs2104953327
NM_000312.4(PROC):c.400+5G>A
NM_000312.4(PROC):c.400+5G>T
NM_000312.4(PROC):c.400+9G>A
NM_000312.4(PROC):c.400+9del
NM_000312.4(PROC):c.400+9dup rs746387774
NM_000312.4(PROC):c.401-20G>C
NM_000312.4(PROC):c.419G>C (p.Cys140Ser) rs747735192
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
NM_000312.4(PROC):c.421T>C (p.Ser141Pro) rs1573444020
NM_000312.4(PROC):c.432C>T (p.Asn144=)
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491
NM_000312.4(PROC):c.441C>T (p.Cys147=)
NM_000312.4(PROC):c.446A>G (p.His149Arg)
NM_000312.4(PROC):c.452G>T (p.Cys151Phe)
NM_000312.4(PROC):c.468C>G (p.Gly156=)
NM_000312.4(PROC):c.468C>T (p.Gly156=) rs201105510
NM_000312.4(PROC):c.472C>T (p.Arg158Trp) rs2104954798
NM_000312.4(PROC):c.483C>T (p.Ser161=)
NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)
NM_000312.4(PROC):c.505G>C (p.Gly169Arg)
NM_000312.4(PROC):c.505G>T (p.Gly169Trp) rs989908811
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) rs2104954946
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000312.4(PROC):c.532G>C (p.Ala178Pro) rs1254257945
NM_000312.4(PROC):c.535+10C>A
NM_000312.4(PROC):c.535+10C>T
NM_000312.4(PROC):c.535+13dup rs1688257183
NM_000312.4(PROC):c.535+15A>G
NM_000312.4(PROC):c.535+9C>T rs1178807938
NM_000312.4(PROC):c.536-19C>T
NM_000312.4(PROC):c.547T>C (p.Cys183Arg) rs748920874
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) rs1284942525
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) rs1558715857
NM_000312.4(PROC):c.560G>A (p.Trp187Ter)
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) rs1558715877
NM_000312.4(PROC):c.567G>A (p.Arg189=)
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.618C>T (p.Asp206=)
NM_000312.4(PROC):c.628C>T (p.Pro210Ser)
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.632G>T (p.Arg211Leu) rs199469476
NM_000312.4(PROC):c.635T>C (p.Leu212Pro)
NM_000312.4(PROC):c.658C>A (p.Arg220=)
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) rs121918152
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) rs121918153
NM_000312.4(PROC):c.666C>G (p.Asp222Glu) rs771116175
NM_000312.4(PROC):c.666C>T (p.Asp222=)
NM_000312.4(PROC):c.673T>C (p.Trp225Arg) rs1277271891
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) rs757925208
NM_000312.4(PROC):c.677A>G (p.Gln226Arg) rs2104970575
NM_000312.4(PROC):c.678+20C>T
NM_000312.4(PROC):c.678+9C>T rs1053253907
NM_000312.4(PROC):c.678G>A (p.Gln226=) rs121918155
NM_000312.4(PROC):c.678G>C (p.Gln226His) rs121918155
NM_000312.4(PROC):c.679-13C>A
NM_000312.4(PROC):c.679-19T>C
NM_000312.4(PROC):c.679-7A>C
NM_000312.4(PROC):c.697AAG[2] (p.Lys235del) rs1688554587
NM_000312.4(PROC):c.698dup (p.Lys234fs)
NM_000312.4(PROC):c.699G>T (p.Lys233Asn)
NM_000312.4(PROC):c.69T>C (p.Leu23=)
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
NM_000312.4(PROC):c.70+10C>T
NM_000312.4(PROC):c.70+12C>T
NM_000312.4(PROC):c.70+15C>A
NM_000312.4(PROC):c.71-16C>A
NM_000312.4(PROC):c.71-16C>G
NM_000312.4(PROC):c.718G>A (p.Ala240Thr) rs2104974763
NM_000312.4(PROC):c.723G>T (p.Val241=) rs771095734
NM_000312.4(PROC):c.728T>C (p.Ile243Thr)
NM_000312.4(PROC):c.746T>C (p.Leu249Pro)
NM_000312.4(PROC):c.752C>A (p.Ala251Glu) rs568121876
NM_000312.4(PROC):c.753G>A (p.Ala251=)
NM_000312.4(PROC):c.76G>A (p.Val26Met) rs754243426
NM_000312.4(PROC):c.780G>A (p.Lys260=) rs1321852028
NM_000312.4(PROC):c.785T>C (p.Leu262Pro) rs1688564230
NM_000312.4(PROC):c.790A>G (p.Arg264Gly)
NM_000312.4(PROC):c.791G>A (p.Arg264Lys)
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.796+10G>A
NM_000312.4(PROC):c.797-20C>T
NM_000312.4(PROC):c.797-2A>T rs1186036467
NM_000312.4(PROC):c.797-4G>A rs112862143
NM_000312.4(PROC):c.797G>A (p.Gly266Glu)
NM_000312.4(PROC):c.799G>A (p.Glu267Lys) rs1553425185
NM_000312.4(PROC):c.815G>A (p.Arg272His)
NM_000312.4(PROC):c.819G>T (p.Trp273Cys) rs1573459299
NM_000312.4(PROC):c.825G>C (p.Lys275Asn)
NM_000312.4(PROC):c.834G>A (p.Leu278=)
NM_000312.4(PROC):c.837C>A (p.Asp279Glu)
NM_000312.4(PROC):c.848AGG[1] (p.Glu284del) rs752654447
NM_000312.4(PROC):c.859G>A (p.Val287Ile)
NM_000312.4(PROC):c.862C>T (p.His288Tyr) rs1688667609
NM_000312.4(PROC):c.866C>T (p.Pro289Leu) rs121918151
NM_000312.4(PROC):c.874A>G (p.Ser292Gly)
NM_000312.4(PROC):c.901G>A (p.Ala301Thr)
NM_000312.4(PROC):c.902C>T (p.Ala301Val) rs121918144
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000312.4(PROC):c.908T>G (p.Leu303Arg) rs1573459781
NM_000312.4(PROC):c.90C>T (p.Ser30=)
NM_000312.4(PROC):c.916G>T (p.Ala306Ser) rs1688673188
NM_000312.4(PROC):c.917C>T (p.Ala306Val)
NM_000312.4(PROC):c.92A>T (p.Glu31Val)
NM_000312.4(PROC):c.945A>G (p.Ile315Met) rs1688675049
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
NM_000312.4(PROC):c.965A>G (p.Asp322Gly)
NM_000312.4(PROC):c.96T>C (p.Arg32=)
NM_000312.4(PROC):c.973C>A (p.Leu325Ile)
NM_000312.4(PROC):c.980A>T (p.Glu327Val)
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000312.4(PROC):c.983G>A (p.Arg328His) rs1688677671
NM_000312.4(PROC):c.989T>C (p.Leu330Pro)
NM_000312.4(PROC):c.997G>A (p.Ala333Thr)
NM_000312.4(PROC):c.999C>T (p.Ala333=)
PROC, ARG12TRP

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