Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378456_94378504delCA2695219652SERPINA1c.1208_1256del (p.Thr403AsnfsTer?)
c.1208_1256del (p.Thr403=)
c.*507_*555del (n.*507_*555del)
14g.94378504delCA616114972SERPINA1c.1205del (p.Asn402IlefsTer12)
c.*504del (n.*504del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378502T>ACA390847449SERPINA1c.1204A>T (p.Asn402Tyr)
c.*503A>T (n.*503A>T)
14g.94378502T>CCA390847452SERPINA1c.1204A>G (p.Asn402Asp)
c.*503A>G (n.*503A>G)
14g.94378502T>GCA390847454SERPINA1c.1204A>C (p.Asn402His)
c.*503A>C (n.*503A>C)
14g.94378503T>ACA390847457SERPINA1c.1203A>T (p.Gln401His)
c.*502A>T (n.*502A>T)
14g.94378503T>CCA487621110SERPINA1c.1203A>G (p.Gln401=)
c.*502A>G (n.*502A>G)
14g.94378503T>GCA390847459SERPINA1c.1203A>C (p.Gln401His)
c.*502A>C (n.*502A>C)
14g.94378504T>ACA390847462SERPINA1c.1202A>T (p.Gln401Leu)
c.*501A>T (n.*501A>T)
14g.94378504T>CCA390847464SERPINA1c.1202A>G (p.Gln401Arg)
c.*501A>G (n.*501A>G)
 gnomAD v4
14g.94378504T>GCA390847466SERPINA1c.1202A>C (p.Gln401Pro)
c.*501A>C (n.*501A>C)
 dbSNP
14g.94378504T=CA2155953389SERPINA1c.1202A= (p.Gln401=)
c.*501A= (n.*501A=)
14g.94378504_94378505delinsTGCA2155953388SERPINA1c.1201_1202delinsCA (p.Gln401=)
c.*500_*501delinsCA (n.*500_*501delinsCA)
14g.94378505delCA265860605SERPINA1c.1201del (p.Gln401LysfsTer13)
c.*500del (n.*500del)
 dbSNP
14g.94378505G>ACA390847470SERPINA1c.1201C>T (p.Gln401Ter)
c.*500C>T (n.*500C>T)
14g.94378505G>CCA390847473SERPINA1c.1201C>G (p.Gln401Glu)
c.*500C>G (n.*500C>G)
14g.94378505G=CA2155953390SERPINA1c.1201C= (p.Gln401=)
c.*500C= (n.*500C=)
14g.94378505G>TCA265860607SERPINA1c.1201C>A (p.Gln401Lys)
c.*500C>A (n.*500C>A)
 dbSNP
14g.94378505_94378506delinsGTCA2155953391SERPINA1c.1200_1201delinsAC (p.Glu400=)
c.*499_*500delinsAC (n.*499_*500delinsAC)
14g.94378506T>ACA390847475SERPINA1c.1200A>T (p.Glu400Asp)
c.*499A>T (n.*499A>T)
14g.94378506T>CCA487621111SERPINA1c.1200A>G (p.Glu400=)
c.*499A>G (n.*499A>G)
 dbSNP
14g.94378506T>GCA127624SERPINA1c.1200A>C (p.Glu400Asp)
c.*499A>C (n.*499A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378506T=CA2155953392SERPINA1c.1200A= (p.Glu400=)
c.*499A= (n.*499A=)
14g.94378507delCA265860608SERPINA1c.1200del (p.Glu400AspfsTer14)
c.*499del (n.*499del)
 dbSNP
14g.94378506_94378507insGCA616114973SERPINA1c.1199_1200insC (p.Glu400AspfsTer?)
c.*498_*499insC (n.*498_*499insC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378507T>ACA390847479SERPINA1c.1199A>T (p.Glu400Val)
c.*498A>T (n.*498A>T)
14g.94378507T>CCA390847482SERPINA1c.1199A>G (p.Glu400Gly)
c.*498A>G (n.*498A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378507T>GCA390847484SERPINA1c.1199A>C (p.Glu400Ala)
c.*498A>C (n.*498A>C)
 gnomAD v4
14g.94378507T=CA2155953393SERPINA1c.1199A= (p.Glu400=)
c.*498A= (n.*498A=)
14g.94378508C>ACA390847487SERPINA1c.1198G>T (p.Glu400Ter)
c.*497G>T (n.*497G>T)
14g.94378508C>GCA390847489SERPINA1c.1198G>C (p.Glu400Gln)
c.*497G>C (n.*497G>C)
14g.94378508C>TCA390847491SERPINA1c.1198G>A (p.Glu400Lys)
c.*497G>A (n.*497G>A)
 gnomAD v4
14g.94378509A>CCA390847492SERPINA1c.1197T>G (p.Ile399Met)
c.*496T>G (n.*496T>G)
14g.94378509A>GCA487621112SERPINA1c.1197T>C (p.Ile399=)
c.*496T>C (n.*496T>C)
 gnomAD v4
14g.94378509A>TCA487621113SERPINA1c.1197T>A (p.Ile399=)
c.*496T>A (n.*496T>A)
14g.94378510A=CA2155953394SERPINA1c.1196T= (p.Ile399=)
c.*495T= (n.*495T=)
14g.94378510A>CCA390847494SERPINA1c.1196T>G (p.Ile399Ser)
c.*495T>G (n.*495T>G)
14g.94378510A>GCA7327253SERPINA1c.1196T>C (p.Ile399Thr)
c.*495T>C (n.*495T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378510A>TCA390847497SERPINA1c.1196T>A (p.Ile399Asn)
c.*495T>A (n.*495T>A)
14g.94378511T>ACA390847504SERPINA1c.1195A>T (p.Ile399Phe)
c.*494A>T (n.*494A>T)
14g.94378511T>CCA265860611SERPINA1c.1195A>G (p.Ile399Val)
c.*494A>G (n.*494A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378511T>GCA390847502SERPINA1c.1195A>C (p.Ile399Leu)
c.*494A>C (n.*494A>C)
14g.94378511T=CA2155953395SERPINA1c.1195A= (p.Ile399=)
c.*494A= (n.*494A=)
14g.94378512_94378515delCA2695219653SERPINA1c.1192_1195del (p.Met398LeufsTer15)
c.*491_*494del (n.*491_*494del)
14g.94378512C>ACA390847507SERPINA1c.1194G>T (p.Met398Ile)
c.*493G>T (n.*493G>T)
14g.94378512C=CA2155953396SERPINA1c.1194G= (p.Met398=)
c.*493G= (n.*493G=)
14g.94378512C>GCA390847509SERPINA1c.1194G>C (p.Met398Ile)
c.*493G>C (n.*493G>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94378512C>TCA390847511SERPINA1c.1194G>A (p.Met398Ile)
c.*493G>A (n.*493G>A)
 gnomAD v4 COSMIC
14g.94378513A>CCA390847514SERPINA1c.1193T>G (p.Met398Arg)
c.*492T>G (n.*492T>G)
14g.94378513A>GCA390847517SERPINA1c.1193T>C (p.Met398Thr)
c.*492T>C (n.*492T>C)
14g.94378513A>TCA390847519SERPINA1c.1193T>A (p.Met398Lys)
c.*492T>A (n.*492T>A)
14g.94378514T>ACA390847522SERPINA1c.1192A>T (p.Met398Leu)
c.*491A>T (n.*491A>T)
14g.94378514T>CCA390847524SERPINA1c.1192A>G (p.Met398Val)
c.*491A>G (n.*491A>G)
14g.94378514T>GCA390847526SERPINA1c.1192A>C (p.Met398Leu)
c.*491A>C (n.*491A>C)
14g.94378515T>ACA390847529SERPINA1c.1191A>T (p.Leu397Phe)
c.*490A>T (n.*490A>T)
14g.94378515T>CCA487621114SERPINA1c.1191A>G (p.Leu397=)
c.*490A>G (n.*490A>G)
 dbSNP gnomAD v2
14g.94378515T>GCA390847531SERPINA1c.1191A>C (p.Leu397Phe)
c.*490A>C (n.*490A>C)
14g.94378515T=CA2155953397SERPINA1c.1191A= (p.Leu397=)
c.*490A= (n.*490A=)
14g.94378516A=CA2155953398SERPINA1c.1190T= (p.Leu397=)
c.*489T= (n.*489T=)
14g.94378516A>CCA390847535SERPINA1c.1190T>G (p.Leu397Ter)
c.*489T>G (n.*489T>G)
14g.94378516A>GCA390847538SERPINA1c.1190T>C (p.Leu397Ser)
c.*489T>C (n.*489T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94378516A>TCA390847533SERPINA1c.1190T>A (p.Leu397Ter)
c.*489T>A (n.*489T>A)
14g.94378520_94378522delCA645582230SERPINA1c.1188_1190del (p.Phe396del)
c.*487_*489del (n.*487_*489del)
 COSMIC
14g.94378517A>CCA390847542SERPINA1c.1189T>G (p.Leu397Val)
c.*488T>G (n.*488T>G)
14g.94378517A>GCA487621116SERPINA1c.1189T>C (p.Leu397=)
c.*488T>C (n.*488T>C)
 gnomAD v4
14g.94378517A>TCA390847540SERPINA1c.1189T>A (p.Leu397Ile)
c.*488T>A (n.*488T>A)
14g.94378518G>ACA265860613SERPINA1c.1188C>T (p.Phe396=)
c.*487C>T (n.*487C>T)
 dbSNP
14g.94378518G>CCA390847545SERPINA1c.1188C>G (p.Phe396Leu)
c.*487C>G (n.*487C>G)
14g.94378518G=CA2155953399SERPINA1c.1188C= (p.Phe396=)
c.*487C= (n.*487C=)
14g.94378518G>TCA390847546SERPINA1c.1188C>A (p.Phe396Leu)
c.*487C>A (n.*487C>A)
14g.94378519A>CCA390847547SERPINA1c.1187T>G (p.Phe396Cys)
c.*486T>G (n.*486T>G)
14g.94378519A>GCA390847548SERPINA1c.1187T>C (p.Phe396Ser)
c.*486T>C (n.*486T>C)
14g.94378519A>TCA390847549SERPINA1c.1187T>A (p.Phe396Tyr)
c.*486T>A (n.*486T>A)
14g.94378520A>CCA390847550SERPINA1c.1186T>G (p.Phe396Val)
c.*485T>G (n.*485T>G)
14g.94378520A>GCA390847551SERPINA1c.1186T>C (p.Phe396Leu)
c.*485T>C (n.*485T>C)
 gnomAD v4
14g.94378520A>TCA390847552SERPINA1c.1186T>A (p.Phe396Ile)
c.*485T>A (n.*485T>A)
14g.94378521G>ACA487621117SERPINA1c.1185C>T (p.Val395=)
c.*484C>T (n.*484C>T)
14g.94378521G>CCA487621118SERPINA1c.1185C>G (p.Val395=)
c.*484C>G (n.*484C>G)
14g.94378521G=CA2155953400SERPINA1c.1185C= (p.Val395=)
c.*484C= (n.*484C=)
14g.94378521G>TCA487621119SERPINA1c.1185C>A (p.Val395=)
c.*484C>A (n.*484C>A)
 dbSNP
14g.94378522A>CCA390847553SERPINA1c.1184T>G (p.Val395Gly)
c.*483T>G (n.*483T>G)
14g.94378522A>GCA390847554SERPINA1c.1184T>C (p.Val395Ala)
c.*483T>C (n.*483T>C)
14g.94378522A>TCA390847555SERPINA1c.1184T>A (p.Val395Asp)
c.*483T>A (n.*483T>A)
14g.94378523C>ACA390847558SERPINA1c.1183G>T (p.Val395Phe)
c.*482G>T (n.*482G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94378523C=CA2155953401SERPINA1c.1183G= (p.Val395=)
c.*482G= (n.*482G=)
14g.94378523C>GCA390847556SERPINA1c.1183G>C (p.Val395Leu)
c.*482G>C (n.*482G>C)
14g.94378523C>TCA390847557SERPINA1c.1183G>A (p.Val395Ile)
c.*482G>A (n.*482G>A)
14g.94378524A>CCA390847559SERPINA1c.1182T>G (p.Phe394Leu)
c.*481T>G (n.*481T>G)
14g.94378524A>GCA487621120SERPINA1c.1182T>C (p.Phe394=)
c.*481T>C (n.*481T>C)
14g.94378524A>TCA390847560SERPINA1c.1182T>A (p.Phe394Leu)
c.*481T>A (n.*481T>A)
 COSMIC
14g.94378526delCA2626279489SERPINA1c.1182del (p.Phe394LeufsTer4)
c.*481del (n.*481del)
 gnomAD v4
14g.94378525A>CCA390847561SERPINA1c.1181T>G (p.Phe394Cys)
c.*480T>G (n.*480T>G)
14g.94378525A>GCA390847562SERPINA1c.1181T>C (p.Phe394Ser)
c.*480T>C (n.*480T>C)
14g.94378525A>TCA390847563SERPINA1c.1181T>A (p.Phe394Tyr)
c.*480T>A (n.*480T>A)
14g.94378526A>CCA390847564SERPINA1c.1180T>G (p.Phe394Val)
c.*479T>G (n.*479T>G)
14g.94378526A>GCA390847565SERPINA1c.1180T>C (p.Phe394Leu)
c.*479T>C (n.*479T>C)
14g.94378526A>TCA390847566SERPINA1c.1180T>A (p.Phe394Ile)
c.*479T>A (n.*479T>A)
14g.94378527G>ACA7327254SERPINA1c.1179C>T (p.Pro393=)
c.*478C>T (n.*478C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378527G>CCA487621125SERPINA1c.1179C>G (p.Pro393=)
c.*478C>G (n.*478C>G)
 gnomAD v4
14g.94378527G=CA2155953402SERPINA1c.1179C= (p.Pro393=)
c.*478C= (n.*478C=)
14g.94378527G>TCA487621123SERPINA1c.1179C>A (p.Pro393=)
c.*478C>A (n.*478C>A)
14g.94378527_94378528delinsAACA645582231SERPINA1c.1178_1179delinsTT (p.Pro393Leu)
c.*477_*478delinsTT (n.*477_*478delinsTT)
 COSMIC
14g.94378529delCA2695199864SERPINA1c.1179del (p.Phe394LeufsTer4)
c.*478del (n.*478del)
 ClinVar
14g.94378528G>ACA127662SERPINA1c.1178C>T (p.Pro393Leu)
c.*477C>T (n.*477C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378528G>CCA265860619SERPINA1c.1178C>G (p.Pro393Arg)
c.*477C>G (n.*477C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94378528G=CA2155953403SERPINA1c.1178C= (p.Pro393=)
c.*477C= (n.*477C=)
14g.94378528G>TCA7327255SERPINA1c.1178C>A (p.Pro393His)
c.*477C>A (n.*477C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378529G>ACA7327256SERPINA1c.1177C>T (p.Pro393Ser)
c.*476C>T (n.*476C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378529G>CCA390847567SERPINA1c.1177C>G (p.Pro393Ala)
c.*476C>G (n.*476C>G)
 gnomAD v4
14g.94378529G=CA2155953404SERPINA1c.1177C= (p.Pro393=)
c.*476C= (n.*476C=)
14g.94378529G>TCA350451SERPINA1c.1177C>A (p.Pro393Thr)
c.*476C>A (n.*476C>A)
 ClinVar dbSNP gnomAD v4
14g.94378530T>ACA390847568SERPINA1c.1176A>T (p.Lys392Asn)
c.*475A>T (n.*475A>T)
14g.94378530T>CCA487621126SERPINA1c.1176A>G (p.Lys392=)
c.*475A>G (n.*475A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94378530T>GCA390847569SERPINA1c.1176A>C (p.Lys392Asn)
c.*475A>C (n.*475A>C)
 COSMIC
14g.94378530T=CA2155953405SERPINA1c.1176A= (p.Lys392=)
c.*475A= (n.*475A=)
14g.94378531T>ACA390847570SERPINA1c.1175A>T (p.Lys392Ile)
c.*474A>T (n.*474A>T)
14g.94378531T>CCA390847571SERPINA1c.1175A>G (p.Lys392Arg)
c.*474A>G (n.*474A>G)
 gnomAD v2
14g.94378531T>GCA390847572SERPINA1c.1175A>C (p.Lys392Thr)
c.*474A>C (n.*474A>C)
14g.94378532T>ACA390847573SERPINA1c.1174A>T (p.Lys392Ter)
c.*473A>T (n.*473A>T)
14g.94378532T>CCA390847574SERPINA1c.1174A>G (p.Lys392Glu)
c.*473A>G (n.*473A>G)
14g.94378532T>GCA390847575SERPINA1c.1174A>C (p.Lys392Gln)
c.*473A>C (n.*473A>C)
 gnomAD v2 gnomAD v4
14g.94378533G>ACA265860623SERPINA1c.1173C>T (p.Asn391=)
c.*472C>T (n.*472C>T)
 dbSNP gnomAD v4
14g.94378533G>CCA390847576SERPINA1c.1173C>G (p.Asn391Lys)
c.*472C>G (n.*472C>G)
14g.94378533G=CA2155953406SERPINA1c.1173C= (p.Asn391=)
c.*472C= (n.*472C=)
14g.94378533G>TCA390847577SERPINA1c.1173C>A (p.Asn391Lys)
c.*472C>A (n.*472C>A)
14g.94378534T>ACA390847578SERPINA1c.1172A>T (p.Asn391Ile)
c.*471A>T (n.*471A>T)
14g.94378534T>CCA390847579SERPINA1c.1172A>G (p.Asn391Ser)
c.*471A>G (n.*471A>G)
14g.94378534T>GCA390847580SERPINA1c.1172A>C (p.Asn391Thr)
c.*471A>C (n.*471A>C)
14g.94378535T>ACA390847583SERPINA1c.1171A>T (p.Asn391Tyr)
c.*470A>T (n.*470A>T)
14g.94378535T>CCA390847581SERPINA1c.1171A>G (p.Asn391Asp)
c.*470A>G (n.*470A>G)
14g.94378535T>GCA390847582SERPINA1c.1171A>C (p.Asn391His)
c.*470A>C (n.*470A>C)
14g.94378536G>ACA487621127SERPINA1c.1170C>T (p.Phe390=)
c.*469C>T (n.*469C>T)
14g.94378536G>CCA390847584SERPINA1c.1170C>G (p.Phe390Leu)
c.*469C>G (n.*469C>G)
14g.94378536G>TCA390847585SERPINA1c.1170C>A (p.Phe390Leu)
c.*469C>A (n.*469C>A)
14g.94378537A>CCA390847586SERPINA1c.1169T>G (p.Phe390Cys)
c.*468T>G (n.*468T>G)
14g.94378537A>GCA390847587SERPINA1c.1169T>C (p.Phe390Ser)
c.*468T>C (n.*468T>C)
14g.94378537A>TCA390847588SERPINA1c.1169T>A (p.Phe390Tyr)
c.*468T>A (n.*468T>A)
14g.94378538A>CCA390847589SERPINA1c.1168T>G (p.Phe390Val)
c.*467T>G (n.*467T>G)
14g.94378538A>GCA390847590SERPINA1c.1168T>C (p.Phe390Leu)
c.*467T>C (n.*467T>C)
14g.94378538A>TCA390847591SERPINA1c.1168T>A (p.Phe390Ile)
c.*467T>A (n.*467T>A)
14g.94378539C>ACA390847592SERPINA1c.1167G>T (p.Lys389Asn)
c.*466G>T (n.*466G>T)
14g.94378539C>GCA390847593SERPINA1c.1167G>C (p.Lys389Asn)
c.*466G>C (n.*466G>C)
14g.94378539C>TCA487621128SERPINA1c.1167G>A (p.Lys389=)
c.*466G>A (n.*466G>A)
 gnomAD v4
14g.94378540T>ACA390847594SERPINA1c.1166A>T (p.Lys389Met)
c.*465A>T (n.*465A>T)
14g.94378540T>CCA390847595SERPINA1c.1166A>G (p.Lys389Arg)
c.*465A>G (n.*465A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378540T>GCA390847596SERPINA1c.1166A>C (p.Lys389Thr)
c.*465A>C (n.*465A>C)
14g.94378540T=CA2155953407SERPINA1c.1166A= (p.Lys389=)
c.*465A= (n.*465A=)
14g.94378541T>ACA390847598SERPINA1c.1165A>T (p.Lys389Ter)
c.*464A>T (n.*464A>T)
14g.94378541T>CCA390847599SERPINA1c.1165A>G (p.Lys389Glu)
c.*464A>G (n.*464A>G)
14g.94378541T>GCA390847597SERPINA1c.1165A>C (p.Lys389Gln)
c.*464A>C (n.*464A>C)
14g.94378542G>ACA487621129SERPINA1c.1164C>T (p.Val388=)
c.*463C>T (n.*463C>T)
14g.94378542G>CCA487621130SERPINA1c.1164C>G (p.Val388=)
c.*463C>G (n.*463C>G)
14g.94378542G>TCA487621131SERPINA1c.1164C>A (p.Val388=)
c.*463C>A (n.*463C>A)
14g.94378543A>CCA390847601SERPINA1c.1163T>G (p.Val388Gly)
c.*462T>G (n.*462T>G)
14g.94378543A>GCA390847600SERPINA1c.1163T>C (p.Val388Ala)
c.*462T>C (n.*462T>C)
14g.94378543A>TCA390847602SERPINA1c.1163T>A (p.Val388Asp)
c.*462T>A (n.*462T>A)
14g.94378544C>ACA390847603SERPINA1c.1162G>T (p.Val388Phe)
c.*461G>T (n.*461G>T)
 gnomAD v4
14g.94378544C=CA2155953408SERPINA1c.1162G= (p.Val388=)
c.*461G= (n.*461G=)
14g.94378544C>GCA390847605SERPINA1c.1162G>C (p.Val388Leu)
c.*461G>C (n.*461G>C)
 dbSNP gnomAD v2
14g.94378544C>TCA390847604SERPINA1c.1162G>A (p.Val388Ile)
c.*461G>A (n.*461G>A)
14g.94378544_94378545insTGTCA616114974SERPINA1c.1161_1162insACA (p.Glu387_Val388insThr)
c.*460_*461insACA (n.*460_*461insACA)
 dbSNP gnomAD v2
14g.94378545C>ACA390847606SERPINA1c.1161G>T (p.Glu387Asp)
c.*460G>T (n.*460G>T)
14g.94378545C=CA2155953409SERPINA1c.1161G= (p.Glu387=)
c.*460G= (n.*460G=)
14g.94378545C>GCA390847607SERPINA1c.1161G>C (p.Glu387Asp)
c.*460G>C (n.*460G>C)
14g.94378545C>TCA487621132SERPINA1c.1161G>A (p.Glu387=)
c.*460G>A (n.*460G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94378546T>ACA390847608SERPINA1c.1160A>T (p.Glu387Val)
c.*459A>T (n.*459A>T)
14g.94378546T>CCA390847610SERPINA1c.1160A>G (p.Glu387Gly)
c.*459A>G (n.*459A>G)
 gnomAD v4
14g.94378546T>GCA390847609SERPINA1c.1160A>C (p.Glu387Ala)
c.*459A>C (n.*459A>C)
14g.94378546_94378553delinsTCGGGGGGCA2155953410SERPINA1c.1153_1160delinsCCCCCCGA (p.Pro385=)
c.*452_*459delinsCCCCCCGA (n.*452_*459delinsCCCCCCGA)
14g.94378546_94378547insGCA645582232SERPINA1c.1159_1160insC (p.Glu387AlafsTer14)
c.*458_*459insC (n.*458_*459insC)
 COSMIC
14g.94378547C>ACA390847611SERPINA1c.1159G>T (p.Glu387Ter)
c.*458G>T (n.*458G>T)
 dbSNP
14g.94378547C=CA2155953411SERPINA1c.1159G= (p.Glu387=)
c.*458G= (n.*458G=)
14g.94378547C>GCA390847612SERPINA1c.1159G>C (p.Glu387Gln)
c.*458G>C (n.*458G>C)
 gnomAD v4
14g.94378547C>TCA127650SERPINA1c.1159G>A (p.Glu387Lys)
c.*458G>A (n.*458G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94378547_94378548delinsCGCA2155953412SERPINA1c.1158_1159delinsCG (p.Pro386=)
c.*457_*458delinsCG (n.*457_*458delinsCG)
14g.94378547_94378553delCA616114975SERPINA1c.1153_1159del (p.Pro385ArgfsTer11)
c.*452_*458del (n.*452_*458del)
 dbSNP gnomAD v2
14g.94378548G>ACA7327258SERPINA1c.1158C>T (p.Pro386=)
c.*457C>T (n.*457C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378548G>CCA487621134SERPINA1c.1158C>G (p.Pro386=)
c.*457C>G (n.*457C>G)
 gnomAD v4
14g.94378548G=CA2155953413SERPINA1c.1158C= (p.Pro386=)
c.*457C= (n.*457C=)
14g.94378548G>TCA487621133SERPINA1c.1158C>A (p.Pro386=)
c.*457C>A (n.*457C>A)
14g.94378554dupCA274031SERPINA1c.1158dup (p.Glu387ArgfsTer14)
c.*457dup (n.*457dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.[94378554dup;94380925T>A]CA913203353SERPINA1c.[863A>T;1158dup] (p.[Glu288Val;Glu387ArgfsTer14])
c.[863A>T;*457dup] ([p.Glu288Val;n.*457dup])
 ClinVar
14g.94378554delCA7327257SERPINA1c.1158del (p.Glu387ArgfsTer11)
c.*457del (n.*457del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94378549G>ACA265860630SERPINA1c.1157C>T (p.Pro386Leu)
c.*456C>T (n.*456C>T)
 dbSNP
14g.94378549G>CCA390847616SERPINA1c.1157C>G (p.Pro386Arg)
c.*456C>G (n.*456C>G)
14g.94378549G=CA2155953414SERPINA1c.1157C= (p.Pro386=)
c.*456C= (n.*456C=)
14g.94378549G>TCA265860632SERPINA1c.1157C>A (p.Pro386His)
c.*456C>A (n.*456C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94378550G>ACA7327261SERPINA1c.1156C>T (p.Pro386Ser)
c.*455C>T (n.*455C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378550G>CCA7327259SERPINA1c.1156C>G (p.Pro386Ala)
c.*455C>G (n.*455C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378550G=CA2155953415SERPINA1c.1156C= (p.Pro386=)
c.*455C= (n.*455C=)
14g.94378550G>TCA7327260SERPINA1c.1156C>A (p.Pro386Thr)
c.*455C>A (n.*455C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378550_94378551delinsCACA2697554189SERPINA1c.1155_1156delinsTG (p.Pro386Ala)
c.*454_*455delinsTG (n.*454_*455delinsTG)
 ClinVar
14g.94378551G>ACA7327262SERPINA1c.1155C>T (p.Pro385=)
c.*454C>T (n.*454C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378551G>CCA487621135SERPINA1c.1155C>G (p.Pro385=)
c.*454C>G (n.*454C>G)
14g.94378551G=CA2155953416SERPINA1c.1155C= (p.Pro385=)
c.*454C= (n.*454C=)
14g.94378551G>TCA487621136SERPINA1c.1155C>A (p.Pro385=)
c.*454C>A (n.*454C>A)
14g.94378552G>ACA390847626SERPINA1c.1154C>T (p.Pro385Leu)
c.*453C>T (n.*453C>T)
 gnomAD v4
14g.94378552G>CCA390847628SERPINA1c.1154C>G (p.Pro385Arg)
c.*453C>G (n.*453C>G)
 gnomAD v4
14g.94378552G>TCA390847631SERPINA1c.1154C>A (p.Pro385His)
c.*453C>A (n.*453C>A)
14g.94378553G>ACA265860638SERPINA1c.1153C>T (p.Pro385Ser)
c.*452C>T (n.*452C>T)
 dbSNP gnomAD v4
14g.94378553G>CCA390847635SERPINA1c.1153C>G (p.Pro385Ala)
c.*452C>G (n.*452C>G)
 dbSNP gnomAD v4
14g.94378553G=CA2155953417SERPINA1c.1153C= (p.Pro385=)
c.*452C= (n.*452C=)
14g.94378553G>TCA390847637SERPINA1c.1153C>A (p.Pro385Thr)
c.*452C>A (n.*452C>A)
 dbSNP
14g.94378554G>ACA265860640SERPINA1c.1152C>T (p.Ile384=)
c.*451C>T (n.*451C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94378554G>CCA390847640SERPINA1c.1152C>G (p.Ile384Met)
c.*451C>G (n.*451C>G)
 dbSNP gnomAD v4
14g.94378554G=CA2155953418SERPINA1c.1152C= (p.Ile384=)
c.*451C= (n.*451C=)
14g.94378554G>TCA487621137SERPINA1c.1152C>A (p.Ile384=)
c.*451C>A (n.*451C>A)
 dbSNP
14g.94378555A=CA2155953419SERPINA1c.1151T= (p.Ile384=)
c.*450T= (n.*450T=)
14g.94378555A>CCA390847645SERPINA1c.1151T>G (p.Ile384Ser)
c.*450T>G (n.*450T>G)
14g.94378555A>GCA390847647SERPINA1c.1151T>C (p.Ile384Thr)
c.*450T>C (n.*450T>C)
14g.94378555A>TCA390847649SERPINA1c.1151T>A (p.Ile384Asn)
c.*450T>A (n.*450T>A)
14g.94378556T>ACA390847652SERPINA1c.1150A>T (p.Ile384Phe)
c.*449A>T (n.*449A>T)
14g.94378556T>CCA390847654SERPINA1c.1150A>G (p.Ile384Val)
c.*449A>G (n.*449A>G)
14g.94378556T>GCA390847656SERPINA1c.1150A>C (p.Ile384Leu)
c.*449A>C (n.*449A>C)
14g.94378557_94378558insCTTACA616114979SERPINA1c.1150_1151insAGTA (p.Ile384LysfsTer18)
c.*449_*450insAGTA (n.*449_*450insAGTA)
 dbSNP gnomAD v2
14g.94378557A>CCA487621138SERPINA1c.1149T>G (p.Ser383=)
c.*448T>G (n.*448T>G)
14g.94378557A>GCA487621139SERPINA1c.1149T>C (p.Ser383=)
c.*448T>C (n.*448T>C)
14g.94378557A>TCA487621140SERPINA1c.1149T>A (p.Ser383=)
c.*448T>A (n.*448T>A)
14g.94378558G>ACA390847660SERPINA1c.1148C>T (p.Ser383Phe)
c.*447C>T (n.*447C>T)
14g.94378558G>CCA390847661SERPINA1c.1148C>G (p.Ser383Cys)
c.*447C>G (n.*447C>G)
14g.94378558G>TCA390847664SERPINA1c.1148C>A (p.Ser383Tyr)
c.*447C>A (n.*447C>A)
 COSMIC
14g.94378559A=CA2155953420SERPINA1c.1147T= (p.Ser383=)
c.*446T= (n.*446T=)
14g.94378559A>CCA7327263SERPINA1c.1147T>G (p.Ser383Ala)
c.*446T>G (n.*446T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378559A>GCA390847668SERPINA1c.1147T>C (p.Ser383Pro)
c.*446T>C (n.*446T>C)
14g.94378559A>TCA390847670SERPINA1c.1147T>A (p.Ser383Thr)
c.*446T>A (n.*446T>A)
14g.94378560C>ACA390847673SERPINA1c.1146G>T (p.Met382Ile)
c.*445G>T (n.*445G>T)
14g.94378560C=CA2155953421SERPINA1c.1146G= (p.Met382=)
c.*445G= (n.*445G=)
14g.94378560C>GCA390847676SERPINA1c.1146G>C (p.Met382Ile)
c.*445G>C (n.*445G>C)
14g.94378560C>TCA7327264SERPINA1c.1146G>A (p.Met382Ile)
c.*445G>A (n.*445G>A)
 dbSNP ExAC gnomAD v2
14g.94378560dupCA616114980SERPINA1c.1146dup (p.Ser383ValfsTer18)
c.*445dup (n.*445dup)
 dbSNP gnomAD v2
14g.94378561A=CA2155953422SERPINA1c.1145T= (p.Met382=)
c.*444T= (n.*444T=)
14g.94378561A>CCA127707SERPINA1c.1145T>G (p.Met382Arg)
c.*444T>G (n.*444T>G)
 ClinVar dbSNP
14g.94378561A>GCA390847680SERPINA1c.1145T>C (p.Met382Thr)
c.*444T>C (n.*444T>C)
 dbSNP
14g.94378561A>TCA390847681SERPINA1c.1145T>A (p.Met382Lys)
c.*444T>A (n.*444T>A)
14g.94378561_94378568delinsATGGGTATCA2155953423SERPINA1c.1138_1145delinsATACCCAT (p.Ile380=)
c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT)
14g.94378562T>ACA265860645SERPINA1c.1144A>T (p.Met382Leu)
c.*443A>T (n.*443A>T)
 dbSNP gnomAD v3 gnomAD v4
14g.94378562T>CCA390847684SERPINA1c.1144A>G (p.Met382Val)
c.*443A>G (n.*443A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378562T>GCA390847687SERPINA1c.1144A>C (p.Met382Leu)
c.*443A>C (n.*443A>C)
 gnomAD v4
14g.94378562T=CA2155953424SERPINA1c.1144A= (p.Met382=)
c.*443A= (n.*443A=)
14g.94378562_94378568delCA616114981SERPINA1c.1138_1144del (p.Ile380CysfsTer16)
c.*437_*443del (n.*437_*443del)
 dbSNP gnomAD v2
14g.94378563G>ACA487621141SERPINA1c.1143C>T (p.Pro381=)
c.*442C>T (n.*442C>T)
 gnomAD v4
14g.94378563G>CCA487621142SERPINA1c.1143C>G (p.Pro381=)
c.*442C>G (n.*442C>G)
14g.94378563G>TCA487621143SERPINA1c.1143C>A (p.Pro381=)
c.*442C>A (n.*442C>A)
14g.94378564G>ACA390847690SERPINA1c.1142C>T (p.Pro381Leu)
c.*441C>T (n.*441C>T)
14g.94378564G>CCA390847692SERPINA1c.1142C>G (p.Pro381Arg)
c.*441C>G (n.*441C>G)
14g.94378564G>TCA390847694SERPINA1c.1142C>A (p.Pro381His)
c.*441C>A (n.*441C>A)
 gnomAD v4
14g.94378565G>ACA390847697SERPINA1c.1141C>T (p.Pro381Ser)
c.*440C>T (n.*440C>T)
14g.94378565G>CCA390847699SERPINA1c.1141C>G (p.Pro381Ala)
c.*440C>G (n.*440C>G)
14g.94378565G>TCA390847701SERPINA1c.1141C>A (p.Pro381Thr)
c.*440C>A (n.*440C>A)
14g.94378566T>ACA487621144SERPINA1c.1140A>T (p.Ile380=)
c.*439A>T (n.*439A>T)
14g.94378566T>CCA390847704SERPINA1c.1140A>G (p.Ile380Met)
c.*439A>G (n.*439A>G)
14g.94378566T>GCA487621145SERPINA1c.1140A>C (p.Ile380=)
c.*439A>C (n.*439A>C)
14g.94378567A>CCA390847707SERPINA1c.1139T>G (p.Ile380Arg)
c.*438T>G (n.*438T>G)
14g.94378567A>GCA390847709SERPINA1c.1139T>C (p.Ile380Thr)
c.*438T>C (n.*438T>C)
 ClinVar
14g.94378567A>TCA390847711SERPINA1c.1139T>A (p.Ile380Lys)
c.*438T>A (n.*438T>A)
14g.94378568T>ACA390847713SERPINA1c.1138A>T (p.Ile380Leu)
c.*437A>T (n.*437A>T)
14g.94378568T>CCA390847716SERPINA1c.1138A>G (p.Ile380Val)
c.*437A>G (n.*437A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378568T>GCA390847718SERPINA1c.1138A>C (p.Ile380Leu)
c.*437A>C (n.*437A>C)
14g.94378568T=CA2155953425SERPINA1c.1138A= (p.Ile380=)
c.*437A= (n.*437A=)
14g.94378569G>ACA487621148SERPINA1c.1137C>T (p.Ala379=)
c.*436C>T (n.*436C>T)
14g.94378569G>CCA487621147SERPINA1c.1137C>G (p.Ala379=)
c.*436C>G (n.*436C>G)
14g.94378569G>TCA487621146SERPINA1c.1137C>A (p.Ala379=)
c.*436C>A (n.*436C>A)
14g.94378570G>ACA390847719SERPINA1c.1136C>T (p.Ala379Val)
c.*435C>T (n.*435C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378570G>CCA390847720SERPINA1c.1136C>G (p.Ala379Gly)
c.*435C>G (n.*435C>G)
14g.94378570G=CA2155953427SERPINA1c.1136C= (p.Ala379=)
c.*435C= (n.*435C=)
14g.94378570G>TCA390847721SERPINA1c.1136C>A (p.Ala379Asp)
c.*435C>A (n.*435C>A)
 ClinVar dbSNP gnomAD v4
14g.94378570_94378571delinsGCCA2155953426SERPINA1c.1135_1136delinsGC (p.Ala379=)
c.*434_*435delinsGC (n.*434_*435delinsGC)
14g.94378571C>ACA390847722SERPINA1c.1135G>T (p.Ala379Ser)
c.*434G>T (n.*434G>T)
 gnomAD v4
14g.94378571C=CA2155953428SERPINA1c.1135G= (p.Ala379=)
c.*434G= (n.*434G=)
14g.94378571C>GCA390847723SERPINA1c.1135G>C (p.Ala379Pro)
c.*434G>C (n.*434G>C)
14g.94378571C>TCA7327265SERPINA1c.1135G>A (p.Ala379Thr)
c.*434G>A (n.*434G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378572delCA710093451SERPINA1c.1135del (p.Ala379ProfsTer19)
c.*434del (n.*434del)
 dbSNP gnomAD v3 gnomAD v4
14g.94378572C>ACA390847724SERPINA1c.1134G>T (p.Glu378Asp)
c.*433G>T (n.*433G>T)
14g.94378572C=CA2155953429SERPINA1c.1134G= (p.Glu378=)
c.*433G= (n.*433G=)
14g.94378572C>GCA390847725SERPINA1c.1134G>C (p.Glu378Asp)
c.*433G>C (n.*433G>C)
14g.94378572C>TCA7327266SERPINA1c.1134G>A (p.Glu378=)
c.*433G>A (n.*433G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378573T>ACA390847726SERPINA1c.1133A>T (p.Glu378Val)
c.*432A>T (n.*432A>T)
14g.94378573T>CCA390847727SERPINA1c.1133A>G (p.Glu378Gly)
c.*432A>G (n.*432A>G)
14g.94378573T>GCA390847728SERPINA1c.1133A>C (p.Glu378Ala)
c.*432A>C (n.*432A>C)
14g.94378573dupCA616114986SERPINA1c.1133dup (p.Ala379GlyfsTer22)
c.*432dup (n.*432dup)
 dbSNP gnomAD v2
14g.94378574C>ACA390847729SERPINA1c.1132G>T (p.Glu378Ter)
c.*431G>T (n.*431G>T)
14g.94378574C=CA2155953430SERPINA1c.1132G= (p.Glu378=)
c.*431G= (n.*431G=)
14g.94378574C>GCA390847730SERPINA1c.1132G>C (p.Glu378Gln)
c.*431G>C (n.*431G>C)
14g.94378574C>TCA390847731SERPINA1c.1132G>A (p.Glu378Lys)
c.*431G>A (n.*431G>A)
 ClinVar dbSNP
14g.94378575T>ACA127705SERPINA1c.1131A>T (p.Leu377Phe)
c.*430A>T (n.*430A>T)
 ClinVar dbSNP
14g.94378575T>CCA487621150SERPINA1c.1131A>G (p.Leu377=)
c.*430A>G (n.*430A>G)
14g.94378575T>GCA390847732SERPINA1c.1131A>C (p.Leu377Phe)
c.*430A>C (n.*430A>C)
 gnomAD v4
14g.94378575T=CA2155953433SERPINA1c.1131A= (p.Leu377=)
c.*430A= (n.*430A=)
14g.94378575dupCA912980010SERPINA1c.1131dup (p.Glu378ArgfsTer23)
c.*430dup (n.*430dup)
14g.94378575_94378576delinsTACA2155953431SERPINA1c.1130_1131delinsTA (p.Leu377=)
c.*429_*430delinsTA (n.*429_*430delinsTA)
14g.94378575_94378580delinsTAAAAACA2155953432SERPINA1c.1126_1131delinsTTTTTA (p.Phe376=)
c.*425_*430delinsTTTTTA (n.*425_*430delinsTTTTTA)
14g.94378576A>CCA390847733SERPINA1c.1130T>G (p.Leu377Ter)
c.*429T>G (n.*429T>G)
14g.94378576A>GCA390847734SERPINA1c.1130T>C (p.Leu377Ser)
c.*429T>C (n.*429T>C)
14g.94378576A>TCA390847735SERPINA1c.1130T>A (p.Leu377Ter)
c.*429T>A (n.*429T>A)
14g.94378576_94378580delCA616114987SERPINA1c.1126_1130del (p.Phe376ArgfsTer23)
c.*425_*429del (n.*425_*429del)
 dbSNP gnomAD v2
14g.94378580dupCA7327268SERPINA1c.1130dup (p.Leu377PhefsTer24)
c.*429dup (n.*429dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378580delCA7327267SERPINA1c.1130del (p.Leu377Ter)
c.*429del (n.*429del)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.94378577A>CCA390847737SERPINA1c.1129T>G (p.Leu377Val)
c.*428T>G (n.*428T>G)
14g.94378577A>GCA487621151SERPINA1c.1129T>C (p.Leu377=)
c.*428T>C (n.*428T>C)
14g.94378577A>TCA390847736SERPINA1c.1129T>A (p.Leu377Ile)
c.*428T>A (n.*428T>A)
14g.94378578A>CCA390847738SERPINA1c.1128T>G (p.Phe376Leu)
c.*427T>G (n.*427T>G)
14g.94378578A>GCA487621152SERPINA1c.1128T>C (p.Phe376=)
c.*427T>C (n.*427T>C)
14g.94378578A>TCA390847739SERPINA1c.1128T>A (p.Phe376Leu)
c.*427T>A (n.*427T>A)
14g.94378579A>CCA390847740SERPINA1c.1127T>G (p.Phe376Cys)
c.*426T>G (n.*426T>G)
14g.94378579A>GCA390847741SERPINA1c.1127T>C (p.Phe376Ser)
c.*426T>C (n.*426T>C)
14g.94378579A>TCA390847742SERPINA1c.1127T>A (p.Phe376Tyr)
c.*426T>A (n.*426T>A)
14g.94378580A=CA2155953434SERPINA1c.1126T= (p.Phe376=)
c.*425T= (n.*425T=)
14g.94378580A>CCA390847744SERPINA1c.1126T>G (p.Phe376Val)
c.*425T>G (n.*425T>G)
14g.94378580A>GCA390847743SERPINA1c.1126T>C (p.Phe376Leu)
c.*425T>C (n.*425T>C)
 gnomAD v4
14g.94378580A>TCA265860653SERPINA1c.1126T>A (p.Phe376Ile)
c.*425T>A (n.*425T>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94378581C>ACA390847745SERPINA1c.1125G>T (p.Met375Ile)
c.*424G>T (n.*424G>T)
14g.94378581C=CA2155953435SERPINA1c.1125G= (p.Met375=)
c.*424G= (n.*424G=)
14g.94378581C>GCA390847746SERPINA1c.1125G>C (p.Met375Ile)
c.*424G>C (n.*424G>C)
14g.94378581C>TCA390847747SERPINA1c.1125G>A (p.Met375Ile)
c.*424G>A (n.*424G>A)
 gnomAD v4
14g.94378581_94378582insCTCCAGCA616114988SERPINA1c.1124_1125insCTGGAG (p.Met375delinsIleTrpArg)
c.*423_*424insCTGGAG (n.*423_*424insCTGGAG)
 dbSNP gnomAD v2
14g.94378582A=CA2155953436SERPINA1c.1124T= (p.Met375=)
c.*423T= (n.*423T=)
14g.94378582A>CCA390847748SERPINA1c.1124T>G (p.Met375Arg)
c.*423T>G (n.*423T>G)
14g.94378582A>GCA390847749SERPINA1c.1124T>C (p.Met375Thr)
c.*423T>C (n.*423T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378582A>TCA390847750SERPINA1c.1124T>A (p.Met375Lys)
c.*423T>A (n.*423T>A)
14g.94378583T>ACA390847751SERPINA1c.1123A>T (p.Met375Leu)
c.*422A>T (n.*422A>T)
14g.94378583T>CCA390847752SERPINA1c.1123A>G (p.Met375Val)
c.*422A>G (n.*422A>G)
 gnomAD v4
14g.94378583T>GCA7327269SERPINA1c.1123A>C (p.Met375Leu)
c.*422A>C (n.*422A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378583T=CA2155953437SERPINA1c.1123A= (p.Met375=)
c.*422A= (n.*422A=)
14g.94378584G>ACA487621156SERPINA1c.1122C>T (p.Ala374=)
c.*421C>T (n.*421C>T)
 ClinVar dbSNP
14g.94378584G>CCA487621160SERPINA1c.1122C>G (p.Ala374=)
c.*421C>G (n.*421C>G)
14g.94378584G>TCA487621158SERPINA1c.1122C>A (p.Ala374=)
c.*421C>A (n.*421C>A)
14g.94378585_94378586insGGGGCA616114991SERPINA1c.1122_1123insCCCC (p.Met375ProfsTer27)
c.*421_*422insCCCC (n.*421_*422insCCCC)
 dbSNP gnomAD v2
14g.94378585G>ACA390847753SERPINA1c.1121C>T (p.Ala374Val)
c.*420C>T (n.*420C>T)
14g.94378585G>CCA390847754SERPINA1c.1121C>G (p.Ala374Gly)
c.*420C>G (n.*420C>G)
14g.94378585G=CA2155953438SERPINA1c.1121C= (p.Ala374=)
c.*420C= (n.*420C=)
14g.94378585G>TCA390847755SERPINA1c.1121C>A (p.Ala374Asp)
c.*420C>A (n.*420C>A)
 ClinVar dbSNP
14g.94378586C>ACA390847756SERPINA1c.1120G>T (p.Ala374Ser)
c.*419G>T (n.*419G>T)
14g.94378586C=CA2155953439SERPINA1c.1120G= (p.Ala374=)
c.*419G= (n.*419G=)
14g.94378586C>GCA390847757SERPINA1c.1120G>C (p.Ala374Pro)
c.*419G>C (n.*419G>C)
14g.94378586C>TCA7327270SERPINA1c.1120G>A (p.Ala374Thr)
c.*419G>A (n.*419G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378587C>ACA487621162SERPINA1c.1119G>T (p.Gly373=)
c.*418G>T (n.*418G>T)
14g.94378587C=CA2155953440SERPINA1c.1119G= (p.Gly373=)
c.*418G= (n.*418G=)
14g.94378587C>GCA487621164SERPINA1c.1119G>C (p.Gly373=)
c.*418G>C (n.*418G>C)
 gnomAD v4
14g.94378587C>TCA7327271SERPINA1c.1119G>A (p.Gly373=)
c.*418G>A (n.*418G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378588C>ACA390847760SERPINA1c.1118G>T (p.Gly373Val)
c.*417G>T (n.*417G>T)
 gnomAD v4
14g.94378588C>GCA390847758SERPINA1c.1118G>C (p.Gly373Ala)
c.*417G>C (n.*417G>C)
14g.94378588C>TCA390847759SERPINA1c.1118G>A (p.Gly373Glu)
c.*417G>A (n.*417G>A)
 gnomAD v4
14g.94378589C>ACA265860659SERPINA1c.1117G>T (p.Gly373Trp)
c.*416G>T (n.*416G>T)
 dbSNP
14g.94378589C=CA2155953441SERPINA1c.1117G= (p.Gly373=)
c.*416G= (n.*416G=)
14g.94378589C>GCA390847761SERPINA1c.1117G>C (p.Gly373Arg)
c.*416G>C (n.*416G>C)
14g.94378589C>TCA7327272SERPINA1c.1117G>A (p.Gly373Arg)
c.*416G>A (n.*416G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378590A=CA2155953443SERPINA1c.1116T= (p.Ala372=)
c.*415T= (n.*415T=)
14g.94378590A>CCA487621168SERPINA1c.1116T>G (p.Ala372=)
c.*415T>G (n.*415T>G)
14g.94378590A>GCA487621170SERPINA1c.1116T>C (p.Ala372=)
c.*415T>C (n.*415T>C)
 ClinVar dbSNP gnomAD v2
14g.94378590A>TCA7327274SERPINA1c.1116T>A (p.Ala372=)
c.*415T>A (n.*415T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378590_94378595delinsAGCAGCCA2155953442SERPINA1c.1111_1116delinsGCTGCT (p.Ala371=)
c.*410_*415delinsGCTGCT (n.*410_*415delinsGCTGCT)
14g.94378590_94378598delinsAGCAGCTTCCA2155953444SERPINA1c.1108_1116delinsGAAGCTGCT (p.Glu370=)
c.*407_*415delinsGAAGCTGCT (n.*407_*415delinsGAAGCTGCT)
14g.94378591delCA2575614226SERPINA1c.1115del (p.Ala372ValfsTer6)
c.*414del (n.*414del)
14g.94378591G>ACA390847762SERPINA1c.1115C>T (p.Ala372Val)
c.*414C>T (n.*414C>T)
 gnomAD v4
14g.94378591G>CCA390847764SERPINA1c.1115C>G (p.Ala372Gly)
c.*414C>G (n.*414C>G)
14g.94378591G>TCA390847763SERPINA1c.1115C>A (p.Ala372Asp)
c.*414C>A (n.*414C>A)
 dbSNP
14g.94378591_94378595delCA7327273SERPINA1c.1111_1115del (p.Ala371TrpfsTer28)
c.*410_*414del (n.*410_*414del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378591_94378598delinsTGTTTTTCA348973SERPINA1c.1108_1115delinsAAAAACA (p.Glu370LysfsTer8)
c.*407_*414delinsAAAAACA (n.*407_*414delinsAAAAACA)
 ClinVar dbSNP
14g.94378592C>ACA390847765SERPINA1c.1114G>T (p.Ala372Ser)
c.*413G>T (n.*413G>T)
14g.94378592C=CA2155953445SERPINA1c.1114G= (p.Ala372=)
c.*413G= (n.*413G=)
14g.94378592C>GCA390847766SERPINA1c.1114G>C (p.Ala372Pro)
c.*413G>C (n.*413G>C)
14g.94378592C>TCA390847767SERPINA1c.1114G>A (p.Ala372Thr)
c.*413G>A (n.*413G>A)
 dbSNP gnomAD v2
14g.94378592_94378593delCA2499222787SERPINA1c.1113_1114del (p.Ala372TrpfsTer28)
c.*412_*413del (n.*412_*413del)
 ClinVar dbSNP
14g.94378593A=CA2155953446SERPINA1c.1113T= (p.Ala371=)
c.*412T= (n.*412T=)
14g.94378593A>CCA487621176SERPINA1c.1113T>G (p.Ala371=)
c.*412T>G (n.*412T>G)
14g.94378593A>GCA487621175SERPINA1c.1113T>C (p.Ala371=)
c.*412T>C (n.*412T>C)
 dbSNP gnomAD v2
14g.94378593A>TCA487621174SERPINA1c.1113T>A (p.Ala371=)
c.*412T>A (n.*412T>A)
14g.94378594delCA2695219654SERPINA1c.1112del (p.Ala371ValfsTer7)
c.*411del (n.*411del)
14g.94378594G>ACA390847768SERPINA1c.1112C>T (p.Ala371Val)
c.*411C>T (n.*411C>T)
14g.94378594G>CCA390847769SERPINA1c.1112C>G (p.Ala371Gly)
c.*411C>G (n.*411C>G)
14g.94378594G=CA2155953447SERPINA1c.1112C= (p.Ala371=)
c.*411C= (n.*411C=)
14g.94378594G>TCA390847770SERPINA1c.1112C>A (p.Ala371Asp)
c.*411C>A (n.*411C>A)
 dbSNP gnomAD v4
14g.94378595C>ACA390847771SERPINA1c.1111G>T (p.Ala371Ser)
c.*410G>T (n.*410G>T)
14g.94378595C=CA2155953448SERPINA1c.1111G= (p.Ala371=)
c.*410G= (n.*410G=)
14g.94378595C>GCA390847772SERPINA1c.1111G>C (p.Ala371Pro)
c.*410G>C (n.*410G>C)
14g.94378595C>TCA390847773SERPINA1c.1111G>A (p.Ala371Thr)
c.*410G>A (n.*410G>A)
 dbSNP
14g.94378596T>ACA390847775SERPINA1c.1110A>T (p.Glu370Asp)
c.*409A>T (n.*409A>T)
14g.94378596T>CCA487621178SERPINA1c.1110A>G (p.Glu370=)
c.*409A>G (n.*409A>G)
14g.94378596T>GCA390847774SERPINA1c.1110A>C (p.Glu370Asp)
c.*409A>C (n.*409A>C)
14g.94378596_94378597insGTTTCA7327275SERPINA1c.1110_1111insAACA (p.Ala371AsnfsTer31)
c.*409_*410insAACA (n.*409_*410insAACA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378597T>ACA390847777SERPINA1c.1109A>T (p.Glu370Val)
c.*408A>T (n.*408A>T)
14g.94378597T>CCA390847776SERPINA1c.1109A>G (p.Glu370Gly)
c.*408A>G (n.*408A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378597T>GCA390847778SERPINA1c.1109A>C (p.Glu370Ala)
c.*408A>C (n.*408A>C)
 gnomAD v4
14g.94378597T=CA2155953449SERPINA1c.1109A= (p.Glu370=)
c.*408A= (n.*408A=)
14g.94378598C>ACA390847779SERPINA1c.1108G>T (p.Glu370Ter)
c.*407G>T (n.*407G>T)
14g.94378598C=CA2155953450SERPINA1c.1108G= (p.Glu370=)
c.*407G= (n.*407G=)
14g.94378598C>GCA390847780SERPINA1c.1108G>C (p.Glu370Gln)
c.*407G>C (n.*407G>C)
14g.94378598C>TCA7327276SERPINA1c.1108G>A (p.Glu370Lys)
c.*407G>A (n.*407G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378599A=CA2155953451SERPINA1c.1107T= (p.Thr369=)
c.*406T= (n.*406T=)
14g.94378599A>CCA487621182SERPINA1c.1107T>G (p.Thr369=)
c.*406T>G (n.*406T>G)
 gnomAD v4
14g.94378599A>GCA7327277SERPINA1c.1107T>C (p.Thr369=)
c.*406T>C (n.*406T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378599A>TCA487621183SERPINA1c.1107T>A (p.Thr369=)
c.*406T>A (n.*406T>A)
14g.94378600G>ACA390847781SERPINA1c.1106C>T (p.Thr369Ile)
c.*405C>T (n.*405C>T)
 COSMIC
14g.94378600G>CCA390847782SERPINA1c.1106C>G (p.Thr369Ser)
c.*405C>G (n.*405C>G)
14g.94378600G>TCA390847783SERPINA1c.1106C>A (p.Thr369Asn)
c.*405C>A (n.*405C>A)
14g.94378601T>ACA390847784SERPINA1c.1105A>T (p.Thr369Ser)
c.*404A>T (n.*404A>T)
14g.94378601T>CCA390847785SERPINA1c.1105A>G (p.Thr369Ala)
c.*404A>G (n.*404A>G)
14g.94378601T>GCA390847786SERPINA1c.1105A>C (p.Thr369Pro)
c.*404A>C (n.*404A>C)
14g.94378602C>ACA487621187SERPINA1c.1104G>T (p.Gly368=)
c.*403G>T (n.*403G>T)
 gnomAD v4
14g.94378602C=CA2155953452SERPINA1c.1104G= (p.Gly368=)
c.*403G= (n.*403G=)
14g.94378602C>GCA487621189SERPINA1c.1104G>C (p.Gly368=)
c.*403G>C (n.*403G>C)
14g.94378602C>TCA487621188SERPINA1c.1104G>A (p.Gly368=)
c.*403G>A (n.*403G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched