Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.106033504G>ACA10481623SERPINA7c.1244C>T (p.Ala415Val)
c.1274C>T (p.Ala425Val)
c.*189C>T (n.*189C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033504G>CCA413873805SERPINA7c.1244C>G (p.Ala415Gly)
c.1274C>G (p.Ala425Gly)
c.*189C>G (n.*189C>G)
 gnomAD v4
Xg.106033504G=CA2449828460SERPINA7c.1244C= (p.Ala415=)
c.1274C= (p.Ala425=)
c.*189C= (n.*189C=)
Xg.106033504G>TCA413873807SERPINA7c.1244C>A (p.Ala415Glu)
c.1274C>A (p.Ala425Glu)
c.*189C>A (n.*189C>A)
 gnomAD v4
Xg.106033505C>ACA413873814SERPINA7c.1243G>T (p.Ala415Ser)
c.1273G>T (p.Ala425Ser)
c.*188G>T (n.*188G>T)
Xg.106033505C>GCA413873816SERPINA7c.1243G>C (p.Ala415Pro)
c.1273G>C (p.Ala425Pro)
c.*188G>C (n.*188G>C)
 gnomAD v4
Xg.106033505C>TCA413873811SERPINA7c.1243G>A (p.Ala415Thr)
c.1273G>A (p.Ala425Thr)
c.*188G>A (n.*188G>A)
Xg.106033506T>ACA413873819SERPINA7c.1242A>T (p.Glu414Asp)
c.1272A>T (p.Glu424Asp)
c.*187A>T (n.*187A>T)
Xg.106033506T>CCA517953198SERPINA7c.1242A>G (p.Glu414=)
c.1272A>G (p.Glu424=)
c.*187A>G (n.*187A>G)
Xg.106033506T>GCA10481624SERPINA7c.1242A>C (p.Glu414Asp)
c.1272A>C (p.Glu424Asp)
c.*187A>C (n.*187A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033506T=CA2449828461SERPINA7c.1242A= (p.Glu414=)
c.1272A= (p.Glu424=)
c.*187A= (n.*187A=)
Xg.106033507T>ACA413873824SERPINA7c.1241A>T (p.Glu414Val)
c.1271A>T (p.Glu424Val)
c.*186A>T (n.*186A>T)
Xg.106033507T>CCA413873826SERPINA7c.1241A>G (p.Glu414Gly)
c.1271A>G (p.Glu424Gly)
c.*186A>G (n.*186A>G)
Xg.106033507T>GCA413873828SERPINA7c.1241A>C (p.Glu414Ala)
c.1271A>C (p.Glu424Ala)
c.*186A>C (n.*186A>C)
Xg.106033508C>ACA413873835SERPINA7c.1240G>T (p.Glu414Ter)
c.1270G>T (p.Glu424Ter)
c.*185G>T (n.*185G>T)
Xg.106033508C>GCA413873830SERPINA7c.1240G>C (p.Glu414Gln)
c.1270G>C (p.Glu424Gln)
c.*185G>C (n.*185G>C)
Xg.106033508C>TCA413873832SERPINA7c.1240G>A (p.Glu414Lys)
c.1270G>A (p.Glu424Lys)
c.*185G>A (n.*185G>A)
Xg.106033509C>ACA10481625SERPINA7c.1239G>T (p.Thr413=)
c.1269G>T (p.Thr423=)
c.*184G>T (n.*184G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033509C=CA2449828462SERPINA7c.1239G= (p.Thr413=)
c.1269G= (p.Thr423=)
c.*184G= (n.*184G=)
Xg.106033509C>GCA517953199SERPINA7c.1239G>C (p.Thr413=)
c.1269G>C (p.Thr423=)
c.*184G>C (n.*184G>C)
Xg.106033509C>TCA10481626SERPINA7c.1239G>A (p.Thr413=)
c.1269G>A (p.Thr423=)
c.*184G>A (n.*184G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.106033510G>ACA10481627SERPINA7c.1238C>T (p.Thr413Met)
c.1268C>T (p.Thr423Met)
c.*183C>T (n.*183C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033510G>CCA413873842SERPINA7c.1238C>G (p.Thr413Arg)
c.1268C>G (p.Thr423Arg)
c.*183C>G (n.*183C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033510G=CA2449828463SERPINA7c.1238C= (p.Thr413=)
c.1268C= (p.Thr423=)
c.*183C= (n.*183C=)
Xg.106033510G>TCA413873845SERPINA7c.1238C>A (p.Thr413Lys)
c.1268C>A (p.Thr423Lys)
c.*183C>A (n.*183C>A)
Xg.106033511T>ACA413873852SERPINA7c.1237A>T (p.Thr413Ser)
c.1267A>T (p.Thr423Ser)
c.*182A>T (n.*182A>T)
Xg.106033511T>CCA413873848SERPINA7c.1237A>G (p.Thr413Ala)
c.1267A>G (p.Thr423Ala)
c.*182A>G (n.*182A>G)
 dbSNP gnomAD v4
Xg.106033511T>GCA413873850SERPINA7c.1237A>C (p.Thr413Pro)
c.1267A>C (p.Thr423Pro)
c.*182A>C (n.*182A>C)
Xg.106033511T=CA2449828464SERPINA7c.1237A= (p.Thr413=)
c.1267A= (p.Thr423=)
c.*182A= (n.*182A=)
Xg.106033512T>ACA517953200SERPINA7c.1236A>T (p.Pro412=)
c.1266A>T (p.Pro422=)
c.*181A>T (n.*181A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033512T>CCA517953201SERPINA7c.1236A>G (p.Pro412=)
c.1266A>G (p.Pro422=)
c.*181A>G (n.*181A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033512T>GCA517953202SERPINA7c.1236A>C (p.Pro412=)
c.1266A>C (p.Pro422=)
c.*181A>C (n.*181A>C)
Xg.106033512T=CA2449828465SERPINA7c.1236A= (p.Pro412=)
c.1266A= (p.Pro422=)
c.*181A= (n.*181A=)
Xg.106033513G>ACA413873856SERPINA7c.1235C>T (p.Pro412Leu)
c.1265C>T (p.Pro422Leu)
c.*180C>T (n.*180C>T)
Xg.106033513G>CCA413873863SERPINA7c.1235C>G (p.Pro412Arg)
c.1265C>G (p.Pro422Arg)
c.*180C>G (n.*180C>G)
Xg.106033513G>TCA413873859SERPINA7c.1235C>A (p.Pro412Gln)
c.1265C>A (p.Pro422Gln)
c.*180C>A (n.*180C>A)
Xg.106033514G>ACA413873866SERPINA7c.1234C>T (p.Pro412Ser)
c.1264C>T (p.Pro422Ser)
c.*179C>T (n.*179C>T)
Xg.106033514G>CCA413873870SERPINA7c.1234C>G (p.Pro412Ala)
c.1264C>G (p.Pro422Ala)
c.*179C>G (n.*179C>G)
Xg.106033514G>TCA413873868SERPINA7c.1234C>A (p.Pro412Thr)
c.1264C>A (p.Pro422Thr)
c.*179C>A (n.*179C>A)
 gnomAD v4
Xg.106033515G>ACA517953203SERPINA7c.1233C>T (p.Asn411=)
c.1263C>T (p.Asn421=)
c.*178C>T (n.*178C>T)
 COSMIC
Xg.106033515G>CCA413873873SERPINA7c.1233C>G (p.Asn411Lys)
c.1263C>G (p.Asn421Lys)
c.*178C>G (n.*178C>G)
Xg.106033515G>TCA413873874SERPINA7c.1233C>A (p.Asn411Lys)
c.1263C>A (p.Asn421Lys)
c.*178C>A (n.*178C>A)
 gnomAD v4
Xg.106033516T>ACA413873877SERPINA7c.1232A>T (p.Asn411Ile)
c.1262A>T (p.Asn421Ile)
c.*177A>T (n.*177A>T)
Xg.106033516T>CCA333351186SERPINA7c.1232A>G (p.Asn411Ser)
c.1262A>G (p.Asn421Ser)
c.*177A>G (n.*177A>G)
 dbSNP gnomAD v4
Xg.106033516T>GCA413873879SERPINA7c.1232A>C (p.Asn411Thr)
c.1262A>C (p.Asn421Thr)
c.*177A>C (n.*177A>C)
Xg.106033516T=CA2449828466SERPINA7c.1232A= (p.Asn411=)
c.1262A= (p.Asn421=)
c.*177A= (n.*177A=)
Xg.106033517T>ACA413873882SERPINA7c.1231A>T (p.Asn411Tyr)
c.1261A>T (p.Asn421Tyr)
c.*176A>T (n.*176A>T)
Xg.106033517T>CCA413873885SERPINA7c.1231A>G (p.Asn411Asp)
c.1261A>G (p.Asn421Asp)
c.*176A>G (n.*176A>G)
 gnomAD v4
Xg.106033517T>GCA413873888SERPINA7c.1231A>C (p.Asn411His)
c.1261A>C (p.Asn421His)
c.*176A>C (n.*176A>C)
Xg.106033518C>ACA517953204SERPINA7c.1230G>T (p.Val410=)
c.1260G>T (p.Val420=)
c.*175G>T (n.*175G>T)
Xg.106033518C=CA2449828467SERPINA7c.1230G= (p.Val410=)
c.1260G= (p.Val420=)
c.*175G= (n.*175G=)
Xg.106033518C>GCA517953205SERPINA7c.1230G>C (p.Val410=)
c.1260G>C (p.Val420=)
c.*175G>C (n.*175G>C)
Xg.106033518C>TCA333351187SERPINA7c.1230G>A (p.Val410=)
c.1260G>A (p.Val420=)
c.*175G>A (n.*175G>A)
 dbSNP
Xg.106033519A>CCA413873893SERPINA7c.1229T>G (p.Val410Gly)
c.1259T>G (p.Val420Gly)
c.*174T>G (n.*174T>G)
Xg.106033519A>GCA413873895SERPINA7c.1229T>C (p.Val410Ala)
c.1259T>C (p.Val420Ala)
c.*174T>C (n.*174T>C)
Xg.106033519A>TCA413873898SERPINA7c.1229T>A (p.Val410Glu)
c.1259T>A (p.Val420Glu)
c.*174T>A (n.*174T>A)
Xg.106033520C>ACA413873901SERPINA7c.1228G>T (p.Val410Leu)
c.1258G>T (p.Val420Leu)
c.*173G>T (n.*173G>T)
Xg.106033520C=CA2449828468SERPINA7c.1228G= (p.Val410=)
c.1258G= (p.Val420=)
c.*173G= (n.*173G=)
Xg.106033520C>GCA413873903SERPINA7c.1228G>C (p.Val410Leu)
c.1258G>C (p.Val420Leu)
c.*173G>C (n.*173G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033520C>TCA413873905SERPINA7c.1228G>A (p.Val410Met)
c.1258G>A (p.Val420Met)
c.*173G>A (n.*173G>A)
Xg.106033521A>CCA517953206SERPINA7c.1227T>G (p.Val409=)
c.1257T>G (p.Val419=)
c.*172T>G (n.*172T>G)
Xg.106033521A>GCA517953207SERPINA7c.1227T>C (p.Val409=)
c.1257T>C (p.Val419=)
c.*172T>C (n.*172T>C)
Xg.106033521A>TCA517953208SERPINA7c.1227T>A (p.Val409=)
c.1257T>A (p.Val419=)
c.*172T>A (n.*172T>A)
Xg.106033522A=CA2449828469SERPINA7c.1226T= (p.Val409=)
c.1256T= (p.Val419=)
c.*171T= (n.*171T=)
Xg.106033522A>CCA413873908SERPINA7c.1226T>G (p.Val409Gly)
c.1256T>G (p.Val419Gly)
c.*171T>G (n.*171T>G)
Xg.106033522A>GCA413873909SERPINA7c.1226T>C (p.Val409Ala)
c.1256T>C (p.Val419Ala)
c.*171T>C (n.*171T>C)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.106033522A>TCA413873911SERPINA7c.1226T>A (p.Val409Asp)
c.1256T>A (p.Val419Asp)
c.*171T>A (n.*171T>A)
Xg.106033523C>ACA413873912SERPINA7c.1225G>T (p.Val409Phe)
c.1255G>T (p.Val419Phe)
c.*170G>T (n.*170G>T)
Xg.106033523C=CA2449828470SERPINA7c.1225G= (p.Val409=)
c.1255G= (p.Val419=)
c.*170G= (n.*170G=)
Xg.106033523C>GCA413873915SERPINA7c.1225G>C (p.Val409Leu)
c.1255G>C (p.Val419Leu)
c.*170G>C (n.*170G>C)
Xg.106033523C>TCA10481628SERPINA7c.1225G>A (p.Val409Ile)
c.1255G>A (p.Val419Ile)
c.*170G>A (n.*170G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033524T>ACA413873917SERPINA7c.1224A>T (p.Lys408Asn)
c.1254A>T (p.Lys418Asn)
c.*169A>T (n.*169A>T)
 gnomAD v4
Xg.106033524T>CCA517953209SERPINA7c.1224A>G (p.Lys408=)
c.1254A>G (p.Lys418=)
c.*169A>G (n.*169A>G)
Xg.106033524T>GCA413873920SERPINA7c.1224A>C (p.Lys408Asn)
c.1254A>C (p.Lys418Asn)
c.*169A>C (n.*169A>C)
Xg.106033525T>ACA413873922SERPINA7c.1223A>T (p.Lys408Ile)
c.1253A>T (p.Lys418Ile)
c.*168A>T (n.*168A>T)
Xg.106033525T>CCA413873923SERPINA7c.1223A>G (p.Lys408Arg)
c.1253A>G (p.Lys418Arg)
c.*168A>G (n.*168A>G)
Xg.106033525T>GCA413873925SERPINA7c.1223A>C (p.Lys408Thr)
c.1253A>C (p.Lys418Thr)
c.*168A>C (n.*168A>C)
Xg.106033526T>ACA413873928SERPINA7c.1222A>T (p.Lys408Ter)
c.1252A>T (p.Lys418Ter)
c.*167A>T (n.*167A>T)
Xg.106033526T>CCA413873929SERPINA7c.1222A>G (p.Lys408Glu)
c.1252A>G (p.Lys418Glu)
c.*167A>G (n.*167A>G)
Xg.106033526T>GCA413873932SERPINA7c.1222A>C (p.Lys408Gln)
c.1252A>C (p.Lys418Gln)
c.*167A>C (n.*167A>C)
Xg.106033526_106033545delinsTCCCTAGAAAGAGAATACTCCA2449828471SERPINA7c.1203_1222delinsGAGTATTCTCTTTCTAGGGA (p.Arg401=)
c.1233_1252delinsGAGTATTCTCTTTCTAGGGA (p.Arg411=)
c.*148_*167delinsGAGTATTCTCTTTCTAGGGA (n.*148_*167delinsGAGTATTCTCTTTCTAGGGA)
Xg.106033527C>ACA517953210SERPINA7c.1221G>T (p.Gly407=)
c.1251G>T (p.Gly417=)
c.*166G>T (n.*166G>T)
Xg.106033527C=CA2449828472SERPINA7c.1221G= (p.Gly407=)
c.1251G= (p.Gly417=)
c.*166G= (n.*166G=)
Xg.106033527C>GCA517953211SERPINA7c.1221G>C (p.Gly407=)
c.1251G>C (p.Gly417=)
c.*166G>C (n.*166G>C)
Xg.106033527C>TCA517953212SERPINA7c.1221G>A (p.Gly407=)
c.1251G>A (p.Gly417=)
c.*166G>A (n.*166G>A)
 dbSNP gnomAD v4 COSMIC
Xg.106033528_106033546delCA333351188SERPINA7c.1203_1221del (p.Ser402LysfsTer3)
c.1233_1251del (p.Ser412LysfsTer3)
c.*148_*166del (n.*148_*166del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033528C>ACA413873940SERPINA7c.1220G>T (p.Gly407Val)
c.1250G>T (p.Gly417Val)
c.*165G>T (n.*165G>T)
Xg.106033528C=CA2449828473SERPINA7c.1220G= (p.Gly407=)
c.1250G= (p.Gly417=)
c.*165G= (n.*165G=)
Xg.106033528C>GCA413873938SERPINA7c.1220G>C (p.Gly407Ala)
c.1250G>C (p.Gly417Ala)
c.*165G>C (n.*165G>C)
Xg.106033528C>TCA10481629SERPINA7c.1220G>A (p.Gly407Glu)
c.1250G>A (p.Gly417Glu)
c.*165G>A (n.*165G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033529C>ACA413873944SERPINA7c.1219G>T (p.Gly407Trp)
c.1249G>T (p.Gly417Trp)
c.*164G>T (n.*164G>T)
 COSMIC
Xg.106033529C>GCA413873945SERPINA7c.1219G>C (p.Gly407Arg)
c.1249G>C (p.Gly417Arg)
c.*164G>C (n.*164G>C)
Xg.106033529C>TCA413873947SERPINA7c.1219G>A (p.Gly407Arg)
c.1249G>A (p.Gly417Arg)
c.*164G>A (n.*164G>A)
Xg.106033530T>ACA517953213SERPINA7c.1218A>T (p.Leu406=)
c.1248A>T (p.Leu416=)
c.*163A>T (n.*163A>T)
Xg.106033530T>CCA10481630SERPINA7c.1218A>G (p.Leu406=)
c.1248A>G (p.Leu416=)
c.*163A>G (n.*163A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033530T>GCA517953214SERPINA7c.1218A>C (p.Leu406=)
c.1248A>C (p.Leu416=)
c.*163A>C (n.*163A>C)
 gnomAD v4
Xg.106033530T=CA2449828474SERPINA7c.1218A= (p.Leu406=)
c.1248A= (p.Leu416=)
c.*163A= (n.*163A=)
Xg.106033531A>CCA413873951SERPINA7c.1217T>G (p.Leu406Arg)
c.1247T>G (p.Leu416Arg)
c.*162T>G (n.*162T>G)
Xg.106033531A>GCA413873954SERPINA7c.1217T>C (p.Leu406Pro)
c.1247T>C (p.Leu416Pro)
c.*162T>C (n.*162T>C)
Xg.106033531A>TCA413873957SERPINA7c.1217T>A (p.Leu406Gln)
c.1247T>A (p.Leu416Gln)
c.*162T>A (n.*162T>A)
Xg.106033532G>ACA517953215SERPINA7c.1216C>T (p.Leu406=)
c.1246C>T (p.Leu416=)
c.*161C>T (n.*161C>T)
 gnomAD v4 COSMIC
Xg.106033532G>CCA413873959SERPINA7c.1216C>G (p.Leu406Val)
c.1246C>G (p.Leu416Val)
c.*161C>G (n.*161C>G)
Xg.106033532G>TCA413873961SERPINA7c.1216C>A (p.Leu406Ile)
c.1246C>A (p.Leu416Ile)
c.*161C>A (n.*161C>A)
Xg.106033533A>CCA413873963SERPINA7c.1215T>G (p.Phe405Leu)
c.1245T>G (p.Phe415Leu)
c.*160T>G (n.*160T>G)
Xg.106033533A>GCA517953216SERPINA7c.1215T>C (p.Phe405=)
c.1245T>C (p.Phe415=)
c.*160T>C (n.*160T>C)
 gnomAD v4
Xg.106033533A>TCA413873965SERPINA7c.1215T>A (p.Phe405Leu)
c.1245T>A (p.Phe415Leu)
c.*160T>A (n.*160T>A)
Xg.106033534A>CCA413873968SERPINA7c.1214T>G (p.Phe405Cys)
c.1244T>G (p.Phe415Cys)
c.*159T>G (n.*159T>G)
Xg.106033534A>GCA413873970SERPINA7c.1214T>C (p.Phe405Ser)
c.1244T>C (p.Phe415Ser)
c.*159T>C (n.*159T>C)
Xg.106033534A>TCA413873972SERPINA7c.1214T>A (p.Phe405Tyr)
c.1244T>A (p.Phe415Tyr)
c.*159T>A (n.*159T>A)
Xg.106033535A>CCA413873975SERPINA7c.1213T>G (p.Phe405Val)
c.1243T>G (p.Phe415Val)
c.*158T>G (n.*158T>G)
Xg.106033535A>GCA413873980SERPINA7c.1213T>C (p.Phe405Leu)
c.1243T>C (p.Phe415Leu)
c.*158T>C (n.*158T>C)
Xg.106033535A>TCA413873977SERPINA7c.1213T>A (p.Phe405Ile)
c.1243T>A (p.Phe415Ile)
c.*158T>A (n.*158T>A)
Xg.106033538_106033539delCA2695235160SERPINA7c.1212_1213del (p.Phe405SerfsTer19)
c.1242_1243del (p.Phe415SerfsTer19)
c.*157_*158del (n.*157_*158del)
Xg.106033536G>ACA517953219SERPINA7c.1212C>T (p.Leu404=)
c.1242C>T (p.Leu414=)
c.*157C>T (n.*157C>T)
 gnomAD v4
Xg.106033536G>CCA517953218SERPINA7c.1212C>G (p.Leu404=)
c.1242C>G (p.Leu414=)
c.*157C>G (n.*157C>G)
 gnomAD v4
Xg.106033536G>TCA517953217SERPINA7c.1212C>A (p.Leu404=)
c.1242C>A (p.Leu414=)
c.*157C>A (n.*157C>A)
Xg.106033537A=CA2449828475SERPINA7c.1211T= (p.Leu404=)
c.1241T= (p.Leu414=)
c.*156T= (n.*156T=)
Xg.106033537A>CCA413873983SERPINA7c.1211T>G (p.Leu404Arg)
c.1241T>G (p.Leu414Arg)
c.*156T>G (n.*156T>G)
Xg.106033537A>GCA413873985SERPINA7c.1211T>C (p.Leu404Pro)
c.1241T>C (p.Leu414Pro)
c.*156T>C (n.*156T>C)
Xg.106033537A>TCA413873987SERPINA7c.1211T>A (p.Leu404His)
c.1241T>A (p.Leu414His)
c.*156T>A (n.*156T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033538G>ACA413873990SERPINA7c.1210C>T (p.Leu404Phe)
c.1240C>T (p.Leu414Phe)
c.*155C>T (n.*155C>T)
Xg.106033538G>CCA413873991SERPINA7c.1210C>G (p.Leu404Val)
c.1240C>G (p.Leu414Val)
c.*155C>G (n.*155C>G)
Xg.106033538G>TCA413873993SERPINA7c.1210C>A (p.Leu404Ile)
c.1240C>A (p.Leu414Ile)
c.*155C>A (n.*155C>A)
Xg.106033539A>CCA413873996SERPINA7c.1209T>G (p.Ile403Met)
c.1239T>G (p.Ile413Met)
c.*154T>G (n.*154T>G)
Xg.106033539A>GCA517953220SERPINA7c.1209T>C (p.Ile403=)
c.1239T>C (p.Ile413=)
c.*154T>C (n.*154T>C)
Xg.106033539A>TCA517953221SERPINA7c.1209T>A (p.Ile403=)
c.1239T>A (p.Ile413=)
c.*154T>A (n.*154T>A)
Xg.106033540A>CCA413873999SERPINA7c.1208T>G (p.Ile403Ser)
c.1238T>G (p.Ile413Ser)
c.*153T>G (n.*153T>G)
Xg.106033540A>GCA413874002SERPINA7c.1208T>C (p.Ile403Thr)
c.1238T>C (p.Ile413Thr)
c.*153T>C (n.*153T>C)
 gnomAD v4
Xg.106033540A>TCA413874004SERPINA7c.1208T>A (p.Ile403Asn)
c.1238T>A (p.Ile413Asn)
c.*153T>A (n.*153T>A)
Xg.106033541T>ACA413874010SERPINA7c.1207A>T (p.Ile403Phe)
c.1237A>T (p.Ile413Phe)
c.*152A>T (n.*152A>T)
Xg.106033541T>CCA10481631SERPINA7c.1207A>G (p.Ile403Val)
c.1237A>G (p.Ile413Val)
c.*152A>G (n.*152A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033541T>GCA413874007SERPINA7c.1207A>C (p.Ile403Leu)
c.1237A>C (p.Ile413Leu)
c.*152A>C (n.*152A>C)
Xg.106033541T=CA2449828476SERPINA7c.1207A= (p.Ile403=)
c.1237A= (p.Ile413=)
c.*152A= (n.*152A=)
Xg.106033542A>CCA413874013SERPINA7c.1206T>G (p.Ser402Arg)
c.1236T>G (p.Ser412Arg)
c.*151T>G (n.*151T>G)
Xg.106033542A>GCA517953222SERPINA7c.1206T>C (p.Ser402=)
c.1236T>C (p.Ser412=)
c.*151T>C (n.*151T>C)
Xg.106033542A>TCA413874014SERPINA7c.1206T>A (p.Ser402Arg)
c.1236T>A (p.Ser412Arg)
c.*151T>A (n.*151T>A)
Xg.106033543C>ACA413874018SERPINA7c.1205G>T (p.Ser402Ile)
c.1235G>T (p.Ser412Ile)
c.*150G>T (n.*150G>T)
Xg.106033543C>GCA413874020SERPINA7c.1205G>C (p.Ser402Thr)
c.1235G>C (p.Ser412Thr)
c.*150G>C (n.*150G>C)
Xg.106033543C>TCA413874022SERPINA7c.1205G>A (p.Ser402Asn)
c.1235G>A (p.Ser412Asn)
c.*150G>A (n.*150G>A)
 gnomAD v4
Xg.106033544T>ACA413874025SERPINA7c.1204A>T (p.Ser402Cys)
c.1234A>T (p.Ser412Cys)
c.*149A>T (n.*149A>T)
Xg.106033544T>CCA413874026SERPINA7c.1204A>G (p.Ser402Gly)
c.1234A>G (p.Ser412Gly)
c.*149A>G (n.*149A>G)
Xg.106033544T>GCA413874028SERPINA7c.1204A>C (p.Ser402Arg)
c.1234A>C (p.Ser412Arg)
c.*149A>C (n.*149A>C)
 gnomAD v4
Xg.106033545C>ACA413874031SERPINA7c.1203G>T (p.Arg401Ser)
c.1233G>T (p.Arg411Ser)
c.*148G>T (n.*148G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.106033545C=CA2449828477SERPINA7c.1203G= (p.Arg401=)
c.1233G= (p.Arg411=)
c.*148G= (n.*148G=)
Xg.106033545C>GCA413874033SERPINA7c.1203G>C (p.Arg401Ser)
c.1233G>C (p.Arg411Ser)
c.*148G>C (n.*148G>C)
Xg.106033545C>TCA517953223SERPINA7c.1203G>A (p.Arg401=)
c.1233G>A (p.Arg411=)
c.*148G>A (n.*148G>A)
 dbSNP
Xg.106033546C>ACA413874036SERPINA7c.1202G>T (p.Arg401Met)
c.1232G>T (p.Arg411Met)
c.*147G>T (n.*147G>T)
Xg.106033546C>GCA413874037SERPINA7c.1202G>C (p.Arg401Thr)
c.1232G>C (p.Arg411Thr)
c.*147G>C (n.*147G>C)
Xg.106033546C>TCA413874039SERPINA7c.1202G>A (p.Arg401Lys)
c.1232G>A (p.Arg411Lys)
c.*147G>A (n.*147G>A)
 gnomAD v4
Xg.106033547T>ACA413874041SERPINA7c.1201A>T (p.Arg401Trp)
c.1231A>T (p.Arg411Trp)
c.*146A>T (n.*146A>T)
Xg.106033547T>CCA413874044SERPINA7c.1201A>G (p.Arg401Gly)
c.1231A>G (p.Arg411Gly)
c.*146A>G (n.*146A>G)
 gnomAD v4
Xg.106033547T>GCA517953224SERPINA7c.1201A>C (p.Arg401=)
c.1231A>C (p.Arg411=)
c.*146A>C (n.*146A>C)
Xg.106033548T>ACA517953225SERPINA7c.1200A>T (p.Thr400=)
c.1230A>T (p.Thr410=)
c.*145A>T (n.*145A>T)
Xg.106033548T>CCA517953226SERPINA7c.1200A>G (p.Thr400=)
c.1230A>G (p.Thr410=)
c.*145A>G (n.*145A>G)
Xg.106033548T>GCA517953227SERPINA7c.1200A>C (p.Thr400=)
c.1230A>C (p.Thr410=)
c.*145A>C (n.*145A>C)
Xg.106033549G>ACA413874047SERPINA7c.1199C>T (p.Thr400Ile)
c.1229C>T (p.Thr410Ile)
c.*144C>T (n.*144C>T)
Xg.106033549G>CCA413874051SERPINA7c.1199C>G (p.Thr400Arg)
c.1229C>G (p.Thr410Arg)
c.*144C>G (n.*144C>G)
 COSMIC
Xg.106033549G>TCA413874049SERPINA7c.1199C>A (p.Thr400Lys)
c.1229C>A (p.Thr410Lys)
c.*144C>A (n.*144C>A)
Xg.106033550T>ACA413874054SERPINA7c.1198A>T (p.Thr400Ser)
c.1228A>T (p.Thr410Ser)
c.*143A>T (n.*143A>T)
Xg.106033550T>CCA413874056SERPINA7c.1198A>G (p.Thr400Ala)
c.1228A>G (p.Thr410Ala)
c.*143A>G (n.*143A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033550T>GCA413874058SERPINA7c.1198A>C (p.Thr400Pro)
c.1228A>C (p.Thr410Pro)
c.*143A>C (n.*143A>C)
Xg.106033550T=CA2449828478SERPINA7c.1198A= (p.Thr400=)
c.1228A= (p.Thr410=)
c.*143A= (n.*143A=)
Xg.106033551G>ACA517953228SERPINA7c.1197C>T (p.Ser399=)
c.1227C>T (p.Ser409=)
c.*142C>T (n.*142C>T)
Xg.106033551G>CCA413874062SERPINA7c.1197C>G (p.Ser399Arg)
c.1227C>G (p.Ser409Arg)
c.*142C>G (n.*142C>G)
Xg.106033551G>TCA413874063SERPINA7c.1197C>A (p.Ser399Arg)
c.1227C>A (p.Ser409Arg)
c.*142C>A (n.*142C>A)
Xg.106033552C>ACA413874066SERPINA7c.1196G>T (p.Ser399Ile)
c.1226G>T (p.Ser409Ile)
c.*141G>T (n.*141G>T)
Xg.106033552C>GCA413874068SERPINA7c.1196G>C (p.Ser399Thr)
c.1226G>C (p.Ser409Thr)
c.*141G>C (n.*141G>C)
Xg.106033552C>TCA413874071SERPINA7c.1196G>A (p.Ser399Asn)
c.1226G>A (p.Ser409Asn)
c.*141G>A (n.*141G>A)
Xg.106033553T>ACA413874074SERPINA7c.1195A>T (p.Ser399Cys)
c.1225A>T (p.Ser409Cys)
c.*140A>T (n.*140A>T)
Xg.106033553T>CCA413874075SERPINA7c.1195A>G (p.Ser399Gly)
c.1225A>G (p.Ser409Gly)
c.*140A>G (n.*140A>G)
Xg.106033553T>GCA413874076SERPINA7c.1195A>C (p.Ser399Arg)
c.1225A>C (p.Ser409Arg)
c.*140A>C (n.*140A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033553T=CA2449828479SERPINA7c.1195A= (p.Ser399=)
c.1225A= (p.Ser409=)
c.*140A= (n.*140A=)
Xg.106033554T>ACA413874079SERPINA7c.1194A>T (p.Arg398Ser)
c.1224A>T (p.Arg408Ser)
c.*139A>T (n.*139A>T)
Xg.106033554T>CCA517953229SERPINA7c.1194A>G (p.Arg398=)
c.1224A>G (p.Arg408=)
c.*139A>G (n.*139A>G)
Xg.106033554T>GCA413874081SERPINA7c.1194A>C (p.Arg398Ser)
c.1224A>C (p.Arg408Ser)
c.*139A>C (n.*139A>C)
 gnomAD v4
Xg.106033555C>ACA413874084SERPINA7c.1193G>T (p.Arg398Ile)
c.1223G>T (p.Arg408Ile)
c.*138G>T (n.*138G>T)
Xg.106033555C>GCA413874086SERPINA7c.1193G>C (p.Arg398Thr)
c.1223G>C (p.Arg408Thr)
c.*138G>C (n.*138G>C)
Xg.106033555C>TCA413874088SERPINA7c.1193G>A (p.Arg398Lys)
c.1223G>A (p.Arg408Lys)
c.*138G>A (n.*138G>A)
Xg.106033556T>ACA413874090SERPINA7c.1192A>T (p.Arg398Ter)
c.1222A>T (p.Arg408Ter)
c.*137A>T (n.*137A>T)
Xg.106033556T>CCA413874093SERPINA7c.1192A>G (p.Arg398Gly)
c.1222A>G (p.Arg408Gly)
c.*137A>G (n.*137A>G)
 gnomAD v4
Xg.106033556T>GCA517953230SERPINA7c.1192A>C (p.Arg398=)
c.1222A>C (p.Arg408=)
c.*137A>C (n.*137A>C)
Xg.106033557C>ACA413874096SERPINA7c.1191G>T (p.Glu397Asp)
c.1221G>T (p.Glu407Asp)
c.*136G>T (n.*136G>T)
 dbSNP
Xg.106033557C=CA2449828480SERPINA7c.1191G= (p.Glu397=)
c.1221G= (p.Glu407=)
c.*136G= (n.*136G=)
Xg.106033557C>GCA413874098SERPINA7c.1191G>C (p.Glu397Asp)
c.1221G>C (p.Glu407Asp)
c.*136G>C (n.*136G>C)
Xg.106033557C>TCA517953231SERPINA7c.1191G>A (p.Glu397=)
c.1221G>A (p.Glu407=)
c.*136G>A (n.*136G>A)
Xg.106033558T>ACA413874101SERPINA7c.1190A>T (p.Glu397Val)
c.1220A>T (p.Glu407Val)
c.*135A>T (n.*135A>T)
Xg.106033558T>CCA413874103SERPINA7c.1190A>G (p.Glu397Gly)
c.1220A>G (p.Glu407Gly)
c.*135A>G (n.*135A>G)
 COSMIC
Xg.106033558T>GCA413874105SERPINA7c.1190A>C (p.Glu397Ala)
c.1220A>C (p.Glu407Ala)
c.*135A>C (n.*135A>C)
Xg.106033559C>ACA413874109SERPINA7c.1189G>T (p.Glu397Ter)
c.1219G>T (p.Glu407Ter)
c.*134G>T (n.*134G>T)
Xg.106033559C>GCA413874111SERPINA7c.1189G>C (p.Glu397Gln)
c.1219G>C (p.Glu407Gln)
c.*134G>C (n.*134G>C)
Xg.106033559C>TCA413874113SERPINA7c.1189G>A (p.Glu397Lys)
c.1219G>A (p.Glu407Lys)
c.*134G>A (n.*134G>A)
Xg.106033560C>ACA16608237SERPINA7c.1188G>T (p.Leu396Phe)
c.1218G>T (p.Leu406Phe)
c.*133G>T (n.*133G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.106033560C=CA2449828481SERPINA7c.1188G= (p.Leu396=)
c.1218G= (p.Leu406=)
c.*133G= (n.*133G=)
Xg.106033560C>GCA413874116SERPINA7c.1188G>C (p.Leu396Phe)
c.1218G>C (p.Leu406Phe)
c.*133G>C (n.*133G>C)
Xg.106033560C>TCA517953232SERPINA7c.1188G>A (p.Leu396=)
c.1218G>A (p.Leu406=)
c.*133G>A (n.*133G>A)
 dbSNP
Xg.106033561A>CCA413874121SERPINA7c.1187T>G (p.Leu396Trp)
c.1217T>G (p.Leu406Trp)
c.*132T>G (n.*132T>G)
 COSMIC
Xg.106033561A>GCA413874123SERPINA7c.1187T>C (p.Leu396Ser)
c.1217T>C (p.Leu406Ser)
c.*132T>C (n.*132T>C)
Xg.106033561A>TCA413874125SERPINA7c.1187T>A (p.Leu396Ter)
c.1217T>A (p.Leu406Ter)
c.*132T>A (n.*132T>A)
Xg.106033562A=CA2449828482SERPINA7c.1186T= (p.Leu396=)
c.1216T= (p.Leu406=)
c.*131T= (n.*131T=)
Xg.106033562A>CCA413874129SERPINA7c.1186T>G (p.Leu396Val)
c.1216T>G (p.Leu406Val)
c.*131T>G (n.*131T>G)
Xg.106033562A>GCA333351189SERPINA7c.1186T>C (p.Leu396=)
c.1216T>C (p.Leu406=)
c.*131T>C (n.*131T>C)
 dbSNP
Xg.106033562A>TCA413874132SERPINA7c.1186T>A (p.Leu396Met)
c.1216T>A (p.Leu406Met)
c.*131T>A (n.*131T>A)
Xg.106033563A>CCA413874135SERPINA7c.1185T>G (p.Ile395Met)
c.1215T>G (p.Ile405Met)
c.*130T>G (n.*130T>G)
Xg.106033563A>GCA517953234SERPINA7c.1185T>C (p.Ile395=)
c.1215T>C (p.Ile405=)
c.*130T>C (n.*130T>C)
Xg.106033563A>TCA517953233SERPINA7c.1185T>A (p.Ile395=)
c.1215T>A (p.Ile405=)
c.*130T>A (n.*130T>A)
 gnomAD v4
Xg.106033564A>CCA413874138SERPINA7c.1184T>G (p.Ile395Ser)
c.1214T>G (p.Ile405Ser)
c.*129T>G (n.*129T>G)
Xg.106033564A>GCA413874140SERPINA7c.1184T>C (p.Ile395Thr)
c.1214T>C (p.Ile405Thr)
c.*129T>C (n.*129T>C)
Xg.106033564A>TCA413874142SERPINA7c.1184T>A (p.Ile395Asn)
c.1214T>A (p.Ile405Asn)
c.*129T>A (n.*129T>A)
Xg.106033565T>ACA413874145SERPINA7c.1183A>T (p.Ile395Phe)
c.1213A>T (p.Ile405Phe)
c.*128A>T (n.*128A>T)
Xg.106033565T>CCA10481632SERPINA7c.1183A>G (p.Ile395Val)
c.1213A>G (p.Ile405Val)
c.*128A>G (n.*128A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033565T>GCA413874149SERPINA7c.1183A>C (p.Ile395Leu)
c.1213A>C (p.Ile405Leu)
c.*128A>C (n.*128A>C)
Xg.106033565T=CA2449828483SERPINA7c.1183A= (p.Ile395=)
c.1213A= (p.Ile405=)
c.*128A= (n.*128A=)
Xg.106033566C>ACA413874151SERPINA7c.1182G>T (p.Leu394Phe)
c.1212G>T (p.Leu404Phe)
c.*127G>T (n.*127G>T)
Xg.106033566C>GCA413874153SERPINA7c.1182G>C (p.Leu394Phe)
c.1212G>C (p.Leu404Phe)
c.*127G>C (n.*127G>C)
Xg.106033566C>TCA517953235SERPINA7c.1182G>A (p.Leu394=)
c.1212G>A (p.Leu404=)
c.*127G>A (n.*127G>A)
 COSMIC
Xg.106033567A>CCA413874157SERPINA7c.1181T>G (p.Leu394Trp)
c.1211T>G (p.Leu404Trp)
c.*126T>G (n.*126T>G)
Xg.106033567A>GCA413874161SERPINA7c.1181T>C (p.Leu394Ser)
c.1211T>C (p.Leu404Ser)
c.*126T>C (n.*126T>C)
Xg.106033567A>TCA413874159SERPINA7c.1181T>A (p.Leu394Ter)
c.1211T>A (p.Leu404Ter)
c.*126T>A (n.*126T>A)
Xg.106033568A=CA2449828484SERPINA7c.1180T= (p.Leu394=)
c.1210T= (p.Leu404=)
c.*125T= (n.*125T=)
Xg.106033568A>CCA413874164SERPINA7c.1180T>G (p.Leu394Val)
c.1210T>G (p.Leu404Val)
c.*125T>G (n.*125T>G)
Xg.106033568A>GCA517953236SERPINA7c.1180T>C (p.Leu394=)
c.1210T>C (p.Leu404=)
c.*125T>C (n.*125T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033568A>TCA413874166SERPINA7c.1180T>A (p.Leu394Met)
c.1210T>A (p.Leu404Met)
c.*125T>A (n.*125T>A)
Xg.106033569C>ACA413874169SERPINA7c.1179G>T (p.Leu393Phe)
c.1209G>T (p.Leu403Phe)
c.*124G>T (n.*124G>T)
Xg.106033569C=CA2449828485SERPINA7c.1179G= (p.Leu393=)
c.1209G= (p.Leu403=)
c.*124G= (n.*124G=)
Xg.106033569C>GCA413874172SERPINA7c.1179G>C (p.Leu393Phe)
c.1209G>C (p.Leu403Phe)
c.*124G>C (n.*124G>C)
Xg.106033569C>TCA10481633SERPINA7c.1179G>A (p.Leu393=)
c.1209G>A (p.Leu403=)
c.*124G>A (n.*124G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033570A>CCA413874175SERPINA7c.1178T>G (p.Leu393Trp)
c.1208T>G (p.Leu403Trp)
c.*123T>G (n.*123T>G)
Xg.106033570A>GCA413874177SERPINA7c.1178T>C (p.Leu393Ser)
c.1208T>C (p.Leu403Ser)
c.*123T>C (n.*123T>C)
Xg.106033570A>TCA413874179SERPINA7c.1178T>A (p.Leu393Ter)
c.1208T>A (p.Leu403Ter)
c.*123T>A (n.*123T>A)
Xg.106033571A>CCA413874182SERPINA7c.1177T>G (p.Leu393Val)
c.1207T>G (p.Leu403Val)
c.*122T>G (n.*122T>G)
Xg.106033571A>GCA517953237SERPINA7c.1177T>C (p.Leu393=)
c.1207T>C (p.Leu403=)
c.*122T>C (n.*122T>C)
Xg.106033571A>TCA413874184SERPINA7c.1177T>A (p.Leu393Met)
c.1207T>A (p.Leu403Met)
c.*122T>A (n.*122T>A)
Xg.106033572C>ACA413874187SERPINA7c.1176G>T (p.Met392Ile)
c.1206G>T (p.Met402Ile)
c.*121G>T (n.*121G>T)
Xg.106033572C>GCA413874189SERPINA7c.1176G>C (p.Met392Ile)
c.1206G>C (p.Met402Ile)
c.*121G>C (n.*121G>C)
Xg.106033572C>TCA413874191SERPINA7c.1176G>A (p.Met392Ile)
c.1206G>A (p.Met402Ile)
c.*121G>A (n.*121G>A)
Xg.106033573A>CCA413874197SERPINA7c.1175T>G (p.Met392Arg)
c.1205T>G (p.Met402Arg)
c.*120T>G (n.*120T>G)
Xg.106033573A>GCA413874193SERPINA7c.1175T>C (p.Met392Thr)
c.1205T>C (p.Met402Thr)
c.*120T>C (n.*120T>C)
 gnomAD v4
Xg.106033573A>TCA413874195SERPINA7c.1175T>A (p.Met392Lys)
c.1205T>A (p.Met402Lys)
c.*120T>A (n.*120T>A)
 gnomAD v4
Xg.106033574T>ACA413874198SERPINA7c.1174A>T (p.Met392Leu)
c.1204A>T (p.Met402Leu)
c.*119A>T (n.*119A>T)
Xg.106033574T>CCA10481634SERPINA7c.1174A>G (p.Met392Val)
c.1204A>G (p.Met402Val)
c.*119A>G (n.*119A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033574T>GCA413874202SERPINA7c.1174A>C (p.Met392Leu)
c.1204A>C (p.Met402Leu)
c.*119A>C (n.*119A>C)
Xg.106033574T=CA2449828486SERPINA7c.1174A= (p.Met392=)
c.1204A= (p.Met402=)
c.*119A= (n.*119A=)
Xg.106033575G>ACA517953238SERPINA7c.1173C>T (p.Phe391=)
c.1203C>T (p.Phe401=)
c.*118C>T (n.*118C>T)
Xg.106033575G>CCA413874203SERPINA7c.1173C>G (p.Phe391Leu)
c.1203C>G (p.Phe401Leu)
c.*118C>G (n.*118C>G)
Xg.106033575G>TCA413874205SERPINA7c.1173C>A (p.Phe391Leu)
c.1203C>A (p.Phe401Leu)
c.*118C>A (n.*118C>A)
Xg.106033576A>CCA413874207SERPINA7c.1172T>G (p.Phe391Cys)
c.1202T>G (p.Phe401Cys)
c.*117T>G (n.*117T>G)
Xg.106033576A>GCA413874209SERPINA7c.1172T>C (p.Phe391Ser)
c.1202T>C (p.Phe401Ser)
c.*117T>C (n.*117T>C)
 gnomAD v4
Xg.106033576A>TCA413874211SERPINA7c.1172T>A (p.Phe391Tyr)
c.1202T>A (p.Phe401Tyr)
c.*117T>A (n.*117T>A)
Xg.106033577A=CA2449828487SERPINA7c.1171T= (p.Phe391=)
c.1201T= (p.Phe401=)
c.*116T= (n.*116T=)
Xg.106033577A>CCA413874214SERPINA7c.1171T>G (p.Phe391Val)
c.1201T>G (p.Phe401Val)
c.*116T>G (n.*116T>G)
Xg.106033577A>GCA333351190SERPINA7c.1171T>C (p.Phe391Leu)
c.1201T>C (p.Phe401Leu)
c.*116T>C (n.*116T>C)
 dbSNP
Xg.106033577A>TCA413874217SERPINA7c.1171T>A (p.Phe391Ile)
c.1201T>A (p.Phe401Ile)
c.*116T>A (n.*116T>A)
Xg.106033578A>CCA517953241SERPINA7c.1170T>G (p.Ser390=)
c.1200T>G (p.Ser400=)
c.*115T>G (n.*115T>G)
Xg.106033578A>GCA517953240SERPINA7c.1170T>C (p.Ser390=)
c.1200T>C (p.Ser400=)
c.*115T>C (n.*115T>C)
Xg.106033578A>TCA517953239SERPINA7c.1170T>A (p.Ser390=)
c.1200T>A (p.Ser400=)
c.*115T>A (n.*115T>A)
Xg.106033579G>ACA413874223SERPINA7c.1169C>T (p.Ser390Phe)
c.1199C>T (p.Ser400Phe)
c.*114C>T (n.*114C>T)
Xg.106033579G>CCA413874224SERPINA7c.1169C>G (p.Ser390Cys)
c.1199C>G (p.Ser400Cys)
c.*114C>G (n.*114C>G)
Xg.106033579G>TCA413874220SERPINA7c.1169C>A (p.Ser390Tyr)
c.1199C>A (p.Ser400Tyr)
c.*114C>A (n.*114C>A)
Xg.106033580A=CA2449828488SERPINA7c.1168T= (p.Ser390=)
c.1198T= (p.Ser400=)
c.*113T= (n.*113T=)
Xg.106033580A>CCA413874227SERPINA7c.1168T>G (p.Ser390Ala)
c.1198T>G (p.Ser400Ala)
c.*113T>G (n.*113T>G)
Xg.106033580A>GCA413874230SERPINA7c.1168T>C (p.Ser390Pro)
c.1198T>C (p.Ser400Pro)
c.*113T>C (n.*113T>C)
 dbSNP gnomAD v2
Xg.106033580A>TCA413874231SERPINA7c.1168T>A (p.Ser390Thr)
c.1198T>A (p.Ser400Thr)
c.*113T>A (n.*113T>A)
 dbSNP gnomAD v4
Xg.106033581T>ACA413874235SERPINA7c.1167A>T (p.Arg389Ser)
c.1197A>T (p.Arg399Ser)
c.*112A>T (n.*112A>T)
 gnomAD v4
Xg.106033581T>CCA333351191SERPINA7c.1167A>G (p.Arg389=)
c.1197A>G (p.Arg399=)
c.*112A>G (n.*112A>G)
 dbSNP gnomAD v4
Xg.106033581T>GCA413874237SERPINA7c.1167A>C (p.Arg389Ser)
c.1197A>C (p.Arg399Ser)
c.*112A>C (n.*112A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033581T=CA2449828489SERPINA7c.1167A= (p.Arg389=)
c.1197A= (p.Arg399=)
c.*112A= (n.*112A=)
Xg.106033582C>ACA413874240SERPINA7c.1166G>T (p.Arg389Ile)
c.1196G>T (p.Arg399Ile)
c.*111G>T (n.*111G>T)
Xg.106033582C>GCA413874242SERPINA7c.1166G>C (p.Arg389Thr)
c.1196G>C (p.Arg399Thr)
c.*111G>C (n.*111G>C)
Xg.106033582C>TCA413874244SERPINA7c.1166G>A (p.Arg389Lys)
c.1196G>A (p.Arg399Lys)
c.*111G>A (n.*111G>A)
Xg.106033583T>ACA413874247SERPINA7c.1165A>T (p.Arg389Ter)
c.1195A>T (p.Arg399Ter)
c.*110A>T (n.*110A>T)
Xg.106033583T>CCA413874249SERPINA7c.1165A>G (p.Arg389Gly)
c.1195A>G (p.Arg399Gly)
c.*110A>G (n.*110A>G)
Xg.106033583T>GCA517953242SERPINA7c.1165A>C (p.Arg389=)
c.1195A>C (p.Arg399=)
c.*110A>C (n.*110A>C)
 gnomAD v4
Xg.106033584A=CA2449828490SERPINA7c.1164T= (p.Asp388=)
c.1194T= (p.Asp398=)
c.*109T= (n.*109T=)
Xg.106033584A>CCA413874251SERPINA7c.1164T>G (p.Asp388Glu)
c.1194T>G (p.Asp398Glu)
c.*109T>G (n.*109T>G)
Xg.106033584A>GCA517953243SERPINA7c.1164T>C (p.Asp388=)
c.1194T>C (p.Asp398=)
c.*109T>C (n.*109T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033584A>TCA413874254SERPINA7c.1164T>A (p.Asp388Glu)
c.1194T>A (p.Asp398Glu)
c.*109T>A (n.*109T>A)
Xg.106033585T>ACA413874260SERPINA7c.1163A>T (p.Asp388Val)
c.1193A>T (p.Asp398Val)
c.*108A>T (n.*108A>T)
 dbSNP
Xg.106033585T>CCA10481635SERPINA7c.1163A>G (p.Asp388Gly)
c.1193A>G (p.Asp398Gly)
c.*108A>G (n.*108A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033585T>GCA413874258SERPINA7c.1163A>C (p.Asp388Ala)
c.1193A>C (p.Asp398Ala)
c.*108A>C (n.*108A>C)
Xg.106033585T=CA2449828491SERPINA7c.1163A= (p.Asp388=)
c.1193A= (p.Asp398=)
c.*108A= (n.*108A=)
Xg.106033586C>ACA413874263SERPINA7c.1162G>T (p.Asp388Tyr)
c.1192G>T (p.Asp398Tyr)
c.*107G>T (n.*107G>T)
 gnomAD v4
Xg.106033586C>GCA413874266SERPINA7c.1162G>C (p.Asp388His)
c.1192G>C (p.Asp398His)
c.*107G>C (n.*107G>C)
Xg.106033586C>TCA413874268SERPINA7c.1162G>A (p.Asp388Asn)
c.1192G>A (p.Asp398Asn)
c.*107G>A (n.*107G>A)
Xg.106033586_106033587delCA2505032943SERPINA7c.1161_1162del (p.Asp388Ter)
c.1191_1192del (p.Asp398Ter)
c.*106_*107del (n.*106_*107del)
Xg.106033587A=CA2449828492SERPINA7c.1161T= (p.Ile387=)
c.1191T= (p.Ile397=)
c.*106T= (n.*106T=)
Xg.106033587A>CCA333351192SERPINA7c.1161T>G (p.Ile387Met)
c.1191T>G (p.Ile397Met)
c.*106T>G (n.*106T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033587A>GCA517953244SERPINA7c.1161T>C (p.Ile387=)
c.1191T>C (p.Ile397=)
c.*106T>C (n.*106T>C)
Xg.106033587A>TCA517953245SERPINA7c.1161T>A (p.Ile387=)
c.1191T>A (p.Ile397=)
c.*106T>A (n.*106T>A)
Xg.106033588A>CCA413874273SERPINA7c.1160T>G (p.Ile387Ser)
c.1190T>G (p.Ile397Ser)
c.*105T>G (n.*105T>G)
Xg.106033588A>GCA413874275SERPINA7c.1160T>C (p.Ile387Thr)
c.1190T>C (p.Ile397Thr)
c.*105T>C (n.*105T>C)
 dbSNP gnomAD v4
Xg.106033588A>TCA413874277SERPINA7c.1160T>A (p.Ile387Asn)
c.1190T>A (p.Ile397Asn)
c.*105T>A (n.*105T>A)
Xg.106033589T>ACA413874280SERPINA7c.1159A>T (p.Ile387Phe)
c.1189A>T (p.Ile397Phe)
c.*104A>T (n.*104A>T)
Xg.106033589T>CCA413874283SERPINA7c.1159A>G (p.Ile387Val)
c.1189A>G (p.Ile397Val)
c.*104A>G (n.*104A>G)
Xg.106033589T>GCA413874285SERPINA7c.1159A>C (p.Ile387Leu)
c.1189A>C (p.Ile397Leu)
c.*104A>C (n.*104A>C)
Xg.106033590T>ACA413874288SERPINA7c.1158A>T (p.Gln386His)
c.1188A>T (p.Gln396His)
c.*103A>T (n.*103A>T)
Xg.106033590T>CCA517953246SERPINA7c.1158A>G (p.Gln386=)
c.1188A>G (p.Gln396=)
c.*103A>G (n.*103A>G)
Xg.106033590T>GCA413874290SERPINA7c.1158A>C (p.Gln386His)
c.1188A>C (p.Gln396His)
c.*103A>C (n.*103A>C)
Xg.106033591T>ACA413874298SERPINA7c.1157A>T (p.Gln386Leu)
c.1187A>T (p.Gln396Leu)
c.*102A>T (n.*102A>T)
Xg.106033591T>CCA413874295SERPINA7c.1157A>G (p.Gln386Arg)
c.1187A>G (p.Gln396Arg)
c.*102A>G (n.*102A>G)
Xg.106033591T>GCA413874293SERPINA7c.1157A>C (p.Gln386Pro)
c.1187A>C (p.Gln396Pro)
c.*102A>C (n.*102A>C)
Xg.106033592G>ACA413874301SERPINA7c.1156C>T (p.Gln386Ter)
c.1186C>T (p.Gln396Ter)
c.*101C>T (n.*101C>T)
Xg.106033592G>CCA413874305SERPINA7c.1156C>G (p.Gln386Glu)
c.1186C>G (p.Gln396Glu)
c.*101C>G (n.*101C>G)
 gnomAD v4
Xg.106033592G>TCA413874303SERPINA7c.1156C>A (p.Gln386Lys)
c.1186C>A (p.Gln396Lys)
c.*101C>A (n.*101C>A)
Xg.106033593G>ACA10481636SERPINA7c.1155C>T (p.Ile385=)
c.1185C>T (p.Ile395=)
c.*100C>T (n.*100C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.106033593G>CCA413874309SERPINA7c.1155C>G (p.Ile385Met)
c.1185C>G (p.Ile395Met)
c.*100C>G (n.*100C>G)
 gnomAD v4
Xg.106033593G=CA2449828493SERPINA7c.1155C= (p.Ile385=)
c.1185C= (p.Ile395=)
c.*100C= (n.*100C=)
Xg.106033593G>TCA517953247SERPINA7c.1155C>A (p.Ile385=)
c.1185C>A (p.Ile395=)
c.*100C>A (n.*100C>A)
Xg.106033594A>CCA413874313SERPINA7c.1154T>G (p.Ile385Ser)
c.1184T>G (p.Ile395Ser)
c.*99T>G (n.*99T>G)
Xg.106033594A>GCA413874315SERPINA7c.1154T>C (p.Ile385Thr)
c.1184T>C (p.Ile395Thr)
c.*99T>C (n.*99T>C)
 gnomAD v4
Xg.106033594A>TCA413874317SERPINA7c.1154T>A (p.Ile385Asn)
c.1184T>A (p.Ile395Asn)
c.*99T>A (n.*99T>A)
Xg.106033595T>ACA413874320SERPINA7c.1153A>T (p.Ile385Phe)
c.1183A>T (p.Ile395Phe)
c.*98A>T (n.*98A>T)
Xg.106033595T>CCA413874322SERPINA7c.1153A>G (p.Ile385Val)
c.1183A>G (p.Ile395Val)
c.*98A>G (n.*98A>G)
Xg.106033595T>GCA413874324SERPINA7c.1153A>C (p.Ile385Leu)
c.1183A>C (p.Ile395Leu)
c.*98A>C (n.*98A>C)
Xg.106033596A>CCA413874327SERPINA7c.1152T>G (p.Ile384Met)
c.1182T>G (p.Ile394Met)
c.*97T>G (n.*97T>G)
Xg.106033596A>GCA517953248SERPINA7c.1152T>C (p.Ile384=)
c.1182T>C (p.Ile394=)
c.*97T>C (n.*97T>C)
 gnomAD v4
Xg.106033596A>TCA517953249SERPINA7c.1152T>A (p.Ile384=)
c.1182T>A (p.Ile394=)
c.*97T>A (n.*97T>A)
Xg.106033597A>CCA413874330SERPINA7c.1151T>G (p.Ile384Ser)
c.1181T>G (p.Ile394Ser)
c.*96T>G (n.*96T>G)
Xg.106033597A>GCA413874332SERPINA7c.1151T>C (p.Ile384Thr)
c.1181T>C (p.Ile394Thr)
c.*96T>C (n.*96T>C)
 gnomAD v4
Xg.106033597A>TCA413874334SERPINA7c.1151T>A (p.Ile384Asn)
c.1181T>A (p.Ile394Asn)
c.*96T>A (n.*96T>A)
Xg.106033598T>ACA413874341SERPINA7c.1150A>T (p.Ile384Phe)
c.1180A>T (p.Ile394Phe)
c.*95A>T (n.*95A>T)
 COSMIC
Xg.106033598T>CCA10481637SERPINA7c.1150A>G (p.Ile384Val)
c.1180A>G (p.Ile394Val)
c.*95A>G (n.*95A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033598T>GCA413874339SERPINA7c.1150A>C (p.Ile384Leu)
c.1180A>C (p.Ile394Leu)
c.*95A>C (n.*95A>C)
Xg.106033598T=CA2449828494SERPINA7c.1150A= (p.Ile384=)
c.1180A= (p.Ile394=)
c.*95A= (n.*95A=)
Xg.106033599A>CCA517953250SERPINA7c.1149T>G (p.Pro383=)
c.1179T>G (p.Pro393=)
c.*94T>G (n.*94T>G)
Xg.106033599A>GCA517953251SERPINA7c.1149T>C (p.Pro383=)
c.1179T>C (p.Pro393=)
c.*94T>C (n.*94T>C)
Xg.106033599A>TCA517953252SERPINA7c.1149T>A (p.Pro383=)
c.1179T>A (p.Pro393=)
c.*94T>A (n.*94T>A)
Xg.106033600G>ACA120674SERPINA7c.1148C>T (p.Pro383Leu)
c.1178C>T (p.Pro393Leu)
c.*93C>T (n.*93C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.106033600G>CCA413874345SERPINA7c.1148C>G (p.Pro383Arg)
c.1178C>G (p.Pro393Arg)
c.*93C>G (n.*93C>G)
Xg.106033600G=CA2449828495SERPINA7c.1148C= (p.Pro383=)
c.1178C= (p.Pro393=)
c.*93C= (n.*93C=)
Xg.106033600G>TCA413874348SERPINA7c.1148C>A (p.Pro383His)
c.1178C>A (p.Pro393His)
c.*93C>A (n.*93C>A)
Xg.106033601G>ACA413874351SERPINA7c.1147C>T (p.Pro383Ser)
c.1177C>T (p.Pro393Ser)
c.*92C>T (n.*92C>T)
 dbSNP
Xg.106033601G>CCA413874359SERPINA7c.1147C>G (p.Pro383Ala)
c.1177C>G (p.Pro393Ala)
c.*92C>G (n.*92C>G)
Xg.106033601G=CA2449828496SERPINA7c.1147C= (p.Pro383=)
c.1177C= (p.Pro393=)
c.*92C= (n.*92C=)
Xg.106033601G>TCA413874361SERPINA7c.1147C>A (p.Pro383Thr)
c.1177C>A (p.Pro393Thr)
c.*92C>A (n.*92C>A)
 COSMIC
Xg.106033602G>ACA517953253SERPINA7c.1146C>T (p.His382=)
c.1176C>T (p.His392=)
c.*91C>T (n.*91C>T)
Xg.106033602G>CCA413874363SERPINA7c.1146C>G (p.His382Gln)
c.1176C>G (p.His392Gln)
c.*91C>G (n.*91C>G)
Xg.106033602G>TCA413874366SERPINA7c.1146C>A (p.His382Gln)
c.1176C>A (p.His392Gln)
c.*91C>A (n.*91C>A)
Xg.106033603T>ACA413874370SERPINA7c.1145A>T (p.His382Leu)
c.1175A>T (p.His392Leu)
c.*90A>T (n.*90A>T)
Xg.106033603T>CCA413874372SERPINA7c.1145A>G (p.His382Arg)
c.1175A>G (p.His392Arg)
c.*90A>G (n.*90A>G)
Xg.106033603T>GCA413874374SERPINA7c.1145A>C (p.His382Pro)
c.1175A>C (p.His392Pro)
c.*90A>C (n.*90A>C)
Xg.106033604G>ACA413874380SERPINA7c.1144C>T (p.His382Tyr)
c.1174C>T (p.His392Tyr)
c.*89C>T (n.*89C>T)
Xg.106033604G>CCA413874378SERPINA7c.1144C>G (p.His382Asp)
c.1174C>G (p.His392Asp)
c.*89C>G (n.*89C>G)
Xg.106033604G>TCA413874377SERPINA7c.1144C>A (p.His382Asn)
c.1174C>A (p.His392Asn)
c.*89C>A (n.*89C>A)

Number of alleles fetched