Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.106033459delCA2579669886SERPINA7c.*42del (n.*42del)
c.*235del (n.*235del)
Xg.106033459T>GCA2694379791SERPINA7c.*41A>C (n.*41A>C)
c.*234A>C (n.*234A>C)
 gnomAD v4
Xg.106033460G>ACA2694379792SERPINA7c.*40C>T (n.*40C>T)
c.*233C>T (n.*233C>T)
 gnomAD v4
Xg.106033460G>TCA2579669887SERPINA7c.*40C>A (n.*40C>A)
c.*233C>A (n.*233C>A)
 gnomAD v4
Xg.106033461C>TCA2694379793SERPINA7c.*39G>A (n.*39G>A)
c.*232G>A (n.*232G>A)
 gnomAD v4
Xg.106033462A=CA2449828437SERPINA7c.*38T= (n.*38T=)
c.*231T= (n.*231T=)
Xg.106033462A>TCA333351183SERPINA7c.*38T>A (n.*38T>A)
c.*231T>A (n.*231T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033463A=CA2449828438SERPINA7c.*37T= (n.*37T=)
c.*230T= (n.*230T=)
Xg.106033463A>GCA10481616SERPINA7c.*37T>C (n.*37T>C)
c.*230T>C (n.*230T>C)
 dbSNP ExAC gnomAD v2
Xg.106033468C=CA2449828439SERPINA7c.*32G= (n.*32G=)
c.*225G= (n.*225G=)
Xg.106033468C>TCA10481617SERPINA7c.*32G>A (n.*32G>A)
c.*225G>A (n.*225G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033469A=CA2449828440SERPINA7c.*31T= (n.*31T=)
c.*224T= (n.*224T=)
Xg.106033469A>TCA643689012SERPINA7c.*31T>A (n.*31T>A)
c.*224T>A (n.*224T>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033470C>ACA2694379794SERPINA7c.*30G>T (n.*30G>T)
c.*223G>T (n.*223G>T)
 gnomAD v4
Xg.106033470C=CA2449828441SERPINA7c.*30G= (n.*30G=)
c.*223G= (n.*223G=)
Xg.106033470C>TCA643689013SERPINA7c.*30G>A (n.*30G>A)
c.*223G>A (n.*223G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.106033471G>ACA10481618SERPINA7c.*29C>T (n.*29C>T)
c.*222C>T (n.*222C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033471G=CA2449828442SERPINA7c.*29C= (n.*29C=)
c.*222C= (n.*222C=)
Xg.106033471G>TCA2694379795SERPINA7c.*29C>A (n.*29C>A)
c.*222C>A (n.*222C>A)
 gnomAD v4
Xg.106033473G>ACA10481619SERPINA7c.*27C>T (n.*27C>T)
c.*220C>T (n.*220C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033473G=CA2449828443SERPINA7c.*27C= (n.*27C=)
c.*220C= (n.*220C=)
Xg.106033474C>ACA10481620SERPINA7c.*26G>T (n.*26G>T)
c.*219G>T (n.*219G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.106033474C=CA2449828444SERPINA7c.*26G= (n.*26G=)
c.*219G= (n.*219G=)
Xg.106033474C>TCA2694379796SERPINA7c.*26G>A (n.*26G>A)
c.*219G>A (n.*219G>A)
 gnomAD v4
Xg.106033475A>TCA2694379797SERPINA7c.*25T>A (n.*25T>A)
c.*218T>A (n.*218T>A)
 gnomAD v4
Xg.106033478T>ACA2449828446SERPINA7c.*22A>T (n.*22A>T)
c.*215A>T (n.*215A>T)
 dbSNP
Xg.106033478T=CA2449828445SERPINA7c.*22A= (n.*22A=)
c.*215A= (n.*215A=)
Xg.106033480G>ACA333351184SERPINA7c.*20C>T (n.*20C>T)
c.*213C>T (n.*213C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033480G>CCA2694379798SERPINA7c.*20C>G (n.*20C>G)
c.*213C>G (n.*213C>G)
 gnomAD v4
Xg.106033480G=CA2449828447SERPINA7c.*20C= (n.*20C=)
c.*213C= (n.*213C=)
Xg.106033481C>TCA2579669888SERPINA7c.*19G>A (n.*19G>A)
c.*212G>A (n.*212G>A)
Xg.106033485T>ACA2694379799SERPINA7c.*15A>T (n.*15A>T)
c.*208A>T (n.*208A>T)
 gnomAD v4
Xg.106033485T>CCA2449828449SERPINA7c.*15A>G (n.*15A>G)
c.*208A>G (n.*208A>G)
 dbSNP gnomAD v4
Xg.106033485T=CA2449828448SERPINA7c.*15A= (n.*15A=)
c.*208A= (n.*208A=)
Xg.106033487G>ACA10481621SERPINA7c.*13C>T (n.*13C>T)
c.*206C>T (n.*206C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.106033487G=CA2449828450SERPINA7c.*13C= (n.*13C=)
c.*206C= (n.*206C=)
Xg.106033487G>TCA2694379800SERPINA7c.*13C>A (n.*13C>A)
c.*206C>A (n.*206C>A)
 gnomAD v4
Xg.106033488C>TCA2579669889SERPINA7c.*12G>A (n.*12G>A)
c.*205G>A (n.*205G>A)
 gnomAD v4
Xg.106033489C=CA2449828451SERPINA7c.*11G= (n.*11G=)
c.*204G= (n.*204G=)
Xg.106033489C>GCA2694379801SERPINA7c.*11G>C (n.*11G>C)
c.*204G>C (n.*204G>C)
 gnomAD v4
Xg.106033494dupCA2449828452SERPINA7c.*10dup (n.*10dup)
c.*203dup (n.*203dup)
 dbSNP
Xg.106033494delCA2579669890SERPINA7c.*10del (n.*10del)
c.*203del (n.*203del)
 gnomAD v4
Xg.106033493T>ACA2694379803SERPINA7c.*7A>T (n.*7A>T)
c.*200A>T (n.*200A>T)
 gnomAD v4
Xg.106033493T>CCA2694379802SERPINA7c.*7A>G (n.*7A>G)
c.*200A>G (n.*200A>G)
 gnomAD v4
Xg.106033494T>CCA333351185SERPINA7c.*6A>G (n.*6A>G)
c.*199A>G (n.*199A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.106033494T=CA2449828453SERPINA7c.*6A= (n.*6A=)
c.*199A= (n.*199A=)
Xg.106033496C>ACA2738757083SERPINA7c.*4G>T (n.*4G>T)
c.*197G>T (n.*197G>T)
 dbSNP
Xg.106033496C=CA2449828454SERPINA7c.*4G= (n.*4G=)
c.*197G= (n.*197G=)
Xg.106033496C>TCA869645395SERPINA7c.*4G>A (n.*4G>A)
c.*197G>A (n.*197G>A)
 dbSNP
Xg.106033497C=CA2449828455SERPINA7c.*3G= (n.*3G=)
c.*196G= (n.*196G=)
Xg.106033497C>TCA2449828456SERPINA7c.*3G>A (n.*3G>A)
c.*196G>A (n.*196G>A)
 dbSNP
Xg.106033499A=CA2449828457SERPINA7c.*1T= (n.*1T=)
c.*194T= (n.*194T=)
Xg.106033499A>GCA2449828458SERPINA7c.*1T>C (n.*1T>C)
c.*194T>C (n.*194T>C)
 dbSNP gnomAD v4
Xg.106033500delCA2694379804SERPINA7c.1248del (p.Ter416TyrextTer18)
c.1278del (p.Ter426TyrextTer18)
c.*193del (n.*193del)
 gnomAD v4
Xg.106033500C>ACA413873784SERPINA7c.1248G>T (p.Ter416Tyr)
c.1278G>T (p.Ter426Tyr)
c.*193G>T (n.*193G>T)
Xg.106033500C>GCA413873786SERPINA7c.1248G>C (p.Ter416Tyr)
c.1278G>C (p.Ter426Tyr)
c.*193G>C (n.*193G>C)
Xg.106033500C>TCA517953195SERPINA7c.1248G>A (p.Ter416=)
c.1278G>A (p.Ter426=)
c.*193G>A (n.*193G>A)
Xg.106033501delCA2579669891SERPINA7c.1247del (p.Ter416CysextTer18)
c.1277del (p.Ter426CysextTer18)
c.*192del (n.*192del)
Xg.106033501T>ACA413873789SERPINA7c.1247A>T (p.Ter416Leu)
c.1277A>T (p.Ter426Leu)
c.*192A>T (n.*192A>T)
Xg.106033501T>CCA413873791SERPINA7c.1247A>G (p.Ter416Trp)
c.1277A>G (p.Ter426Trp)
c.*192A>G (n.*192A>G)
Xg.106033501T>GCA413873793SERPINA7c.1247A>C (p.Ter416Ser)
c.1277A>C (p.Ter426Ser)
c.*192A>C (n.*192A>C)
Xg.106033502A>CCA413873794SERPINA7c.1246T>G (p.Ter416Glu)
c.1276T>G (p.Ter426Glu)
c.*191T>G (n.*191T>G)
Xg.106033502A>GCA413873796SERPINA7c.1246T>C (p.Ter416Gln)
c.1276T>C (p.Ter426Gln)
c.*191T>C (n.*191T>C)
Xg.106033502A>TCA413873798SERPINA7c.1246T>A (p.Ter416Lys)
c.1276T>A (p.Ter426Lys)
c.*191T>A (n.*191T>A)
Xg.106033503C>ACA517953196SERPINA7c.1245G>T (p.Ala415=)
c.1275G>T (p.Ala425=)
c.*190G>T (n.*190G>T)
 gnomAD v4
Xg.106033503C=CA2449828459SERPINA7c.1245G= (p.Ala415=)
c.1275G= (p.Ala425=)
c.*190G= (n.*190G=)
Xg.106033503C>GCA517953197SERPINA7c.1245G>C (p.Ala415=)
c.1275G>C (p.Ala425=)
c.*190G>C (n.*190G>C)
Xg.106033503C>TCA10481622SERPINA7c.1245G>A (p.Ala415=)
c.1275G>A (p.Ala425=)
c.*190G>A (n.*190G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
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)

Number of alleles fetched