Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17381958T>ACA521042314PADI6c.554-9T>A (n.554-9T>A)
dbSNP gnomAD v2 gnomAD v4
1g.17381958T>CCA2643699410PADI6c.554-9T>C (n.554-9T>C)
gnomAD v4
1g.17381958T=CA1156237458PADI6c.554-9T= (n.554-9T=)
1g.17381961G>ACA1156237460PADI6c.554-6G>A (n.554-6G>A)
dbSNP gnomAD v4
1g.17381961G=CA1156237459PADI6c.554-6G= (n.554-6G=)
1g.17381962C=CA1156237461PADI6c.554-5C= (n.554-5C=)
1g.17381962C>TCA1156237462PADI6c.554-5C>T (n.554-5C>T)
dbSNP
1g.17381968_17381987dupCA2643699411PADI6c.555_574dup
gnomAD v4
1g.17381963C=CA1156237463PADI6c.554-4C= (n.554-4C=)
1g.17381963C>TCA18631125PADI6c.554-4C>T (n.554-4C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17381964C=CA1156237464PADI6c.554-3C= (n.554-3C=)
1g.17381964C>GCA2643699412PADI6c.554-3C>G (n.554-3C>G)
gnomAD v4
1g.17381964C>TCA641408PADI6c.554-3C>T (n.554-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17381965A=CA1143464842PADI6c.554-2A= (n.554-2A=)
1g.17381965A>CCA338244996PADI6c.554-2A>C (n.554-2A>C)
1g.17381965A>GCA338245002PADI6c.554-2A>G (n.554-2A>G)
gnomAD v4
1g.17381965A>TCA641409PADI6c.554-2A>T (n.554-2A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17381966G>ACA338245046PADI6c.554-1G>A (n.554-1G>A)
1g.17381966G>CCA338245048PADI6c.554-1G>C (n.554-1G>C)
1g.17381966G>TCA338245044PADI6c.554-1G>T (n.554-1G>T)
1g.17381967A>CCA338245079PADI6c.554A>C (p.Glu185Ala)
1g.17381967A>GCA338245059PADI6c.554A>G (p.Glu185Gly)
1g.17381967A>TCA338245064PADI6c.554A>T (p.Glu185Val)
1g.17381968A>CCA338245084PADI6c.555A>C (p.Glu185Asp)
1g.17381968A>GCA416397620PADI6c.555A>G (p.Glu185=)
1g.17381968A>TCA338245086PADI6c.555A>T (p.Glu185Asp)
1g.17381969A=CA1156237465PADI6c.556A= (p.Ile186=)
1g.17381969A>CCA338245088PADI6c.556A>C (p.Ile186Leu)
1g.17381969A>GCA338245093PADI6c.556A>G (p.Ile186Val)
dbSNP
1g.17381969A>TCA338245095PADI6c.556A>T (p.Ile186Leu)
1g.17381970T>ACA338245098PADI6c.557T>A (p.Ile186Lys)
gnomAD v4
1g.17381970T>CCA338245103PADI6c.557T>C (p.Ile186Thr)
gnomAD v4
1g.17381970T>GCA338245099PADI6c.557T>G (p.Ile186Arg)
1g.17381971A>CCA416397633PADI6c.558A>C (p.Ile186=)
1g.17381971A>GCA338245105PADI6c.558A>G (p.Ile186Met)
1g.17381971A>TCA416397635PADI6c.558A>T (p.Ile186=)
1g.17381972dupCA2573051414PADI6c.559dup (p.Thr187AsnfsTer?)
ClinVar dbSNP
1g.17381972A=CA1156237466PADI6c.559A= (p.Thr187=)
1g.17381972A>CCA338245107PADI6c.559A>C (p.Thr187Pro)
1g.17381972A>GCA338245109PADI6c.559A>G (p.Thr187Ala)
dbSNP gnomAD v3 gnomAD v4
1g.17381972A>TCA338245111PADI6c.559A>T (p.Thr187Ser)
1g.17381973C>ACA338245131PADI6c.560C>A (p.Thr187Lys)
gnomAD v4
1g.17381973C=CA1143376880PADI6c.560C= (p.Thr187=)
1g.17381973C>GCA641411PADI6c.560C>G (p.Thr187Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17381973C>TCA641410PADI6c.560C>T (p.Thr187Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17381974G>ACA641412PADI6c.561G>A (p.Thr187=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.17381974G>CCA416397644PADI6c.561G>C (p.Thr187=)
1g.17381974G=CA1156237467PADI6c.561G= (p.Thr187=)
1g.17381974G>TCA18631157PADI6c.561G>T (p.Thr187=)
dbSNP gnomAD v3 gnomAD v4
1g.17381975A=CA1156237468PADI6c.562A= (p.Asn188=)
1g.17381975A>CCA338245135PADI6c.562A>C (p.Asn188His)
gnomAD v4
1g.17381975A>GCA338245139PADI6c.562A>G (p.Asn188Asp)
dbSNP
1g.17381975A>TCA338245143PADI6c.562A>T (p.Asn188Tyr)
1g.17381976dupCA2643699413PADI6c.563dup (p.Asn188LysfsTer?)
gnomAD v4
1g.17381976A=CA1156237469PADI6c.563A= (p.Asn188=)
1g.17381976A>CCA338245144PADI6c.563A>C (p.Asn188Thr)
dbSNP
1g.17381976A>GCA338245145PADI6c.563A>G (p.Asn188Ser)
gnomAD v4
1g.17381976A>TCA338245146PADI6c.563A>T (p.Asn188Ile)
1g.17381977T>ACA338245148PADI6c.564T>A (p.Asn188Lys)
1g.17381977T>CCA641413PADI6c.564T>C (p.Asn188=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17381977T>GCA338245149PADI6c.564T>G (p.Asn188Lys)
1g.17381977T=CA1156237470PADI6c.564T= (p.Asn188=)
1g.17381978C>ACA338245152PADI6c.565C>A (p.Leu189Met)
gnomAD v4
1g.17381978C>GCA338245154PADI6c.565C>G (p.Leu189Val)
1g.17381978C>TCA416397663PADI6c.565C>T (p.Leu189=)
1g.17381979T>ACA338245163PADI6c.566T>A (p.Leu189Gln)
1g.17381979T>CCA338245183PADI6c.566T>C (p.Leu189Pro)
1g.17381979T>GCA338245178PADI6c.566T>G (p.Leu189Arg)
1g.17381980G>ACA416397664PADI6c.567G>A (p.Leu189=)
1g.17381980G>CCA416397666PADI6c.567G>C (p.Leu189=)
dbSNP gnomAD v2 gnomAD v4
1g.17381980G=CA1156237471PADI6c.567G= (p.Leu189=)
1g.17381980G>TCA416397668PADI6c.567G>T (p.Leu189=)
1g.17381981T>ACA338245187PADI6c.568T>A (p.Ser190Thr)
1g.17381981T>CCA338245193PADI6c.568T>C (p.Ser190Pro)
1g.17381981T>GCA338245194PADI6c.568T>G (p.Ser190Ala)
1g.17381982C>ACA338245197PADI6c.569C>A (p.Ser190Tyr)
1g.17381982C>GCA338245199PADI6c.569C>G (p.Ser190Cys)
1g.17381982C>TCA338245206PADI6c.569C>T (p.Ser190Phe)
COSMIC
1g.17381983C>ACA416397677PADI6c.570C>A (p.Ser190=)
1g.17381983C=CA1156237472PADI6c.570C= (p.Ser190=)
1g.17381983C>GCA416397679PADI6c.570C>G (p.Ser190=)
1g.17381983C>TCA416397678PADI6c.570C>T (p.Ser190=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17381984C>ACA338245211PADI6c.571C>A (p.Gln191Lys)
gnomAD v4 COSMIC
1g.17381984C=CA1156237473PADI6c.571C= (p.Gln191=)
1g.17381984C>GCA641414PADI6c.571C>G (p.Gln191Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17381984C>TCA338245212PADI6c.571C>T (p.Gln191Ter)
1g.17381985A>CCA338245213PADI6c.572A>C (p.Gln191Pro)
1g.17381985A>GCA338245214PADI6c.572A>G (p.Gln191Arg)
1g.17381985A>TCA338245217PADI6c.572A>T (p.Gln191Leu)
1g.17381986G>ACA641415PADI6c.573G>A (p.Gln191=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17381986G>CCA338245223PADI6c.573G>C (p.Gln191His)
gnomAD v4
1g.17381986G=CA1156237474PADI6c.573G= (p.Gln191=)
1g.17381986G>TCA338245228PADI6c.573G>T (p.Gln191His)
1g.17381987A>CCA338245236PADI6c.574A>C (p.Met192Leu)
1g.17381987A>GCA338245242PADI6c.574A>G (p.Met192Val)
1g.17381987A>TCA338245253PADI6c.574A>T (p.Met192Leu)
1g.17381988T>ACA338245261PADI6c.575T>A (p.Met192Lys)
1g.17381988T>CCA338245265PADI6c.575T>C (p.Met192Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17381988T>GCA338245266PADI6c.575T>G (p.Met192Arg)
1g.17381988T=CA1156237475PADI6c.575T= (p.Met192=)
1g.17381989G>ACA338245267PADI6c.576G>A (p.Met192Ile)
dbSNP
1g.17381989G>CCA338245268PADI6c.576G>C (p.Met192Ile)
1g.17381989G=CA1156237476PADI6c.576G= (p.Met192=)
1g.17381989G>TCA338245272PADI6c.576G>T (p.Met192Ile)
gnomAD v4
1g.17381990A=CA1156237477PADI6c.577A= (p.Thr193=)
1g.17381990A>CCA338245278PADI6c.577A>C (p.Thr193Pro)
1g.17381990A>GCA338245280PADI6c.577A>G (p.Thr193Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17381990A>TCA338245290PADI6c.577A>T (p.Thr193Ser)
1g.17381991C>ACA338245296PADI6c.578C>A (p.Thr193Asn)
1g.17381991C>GCA338245297PADI6c.578C>G (p.Thr193Ser)
1g.17381991C>TCA338245294PADI6c.578C>T (p.Thr193Ile)
1g.17381993_17381994delCA2643699414PADI6c.580_581del (p.Leu194GlufsTer?)
gnomAD v4
1g.17381992T>ACA416397710PADI6c.579T>A (p.Thr193=)
gnomAD v4
1g.17381992T>CCA641416PADI6c.579T>C (p.Thr193=)
dbSNP ExAC gnomAD v2
1g.17381992T>GCA416397714PADI6c.579T>G (p.Thr193=)
1g.17381992T=CA1156237478PADI6c.579T= (p.Thr193=)
1g.17381993C>ACA338245301PADI6c.580C>A (p.Leu194Met)
1g.17381993C>GCA338245304PADI6c.580C>G (p.Leu194Val)
1g.17381993C>TCA416397720PADI6c.580C>T (p.Leu194=)
1g.17381994T>ACA338245313PADI6c.581T>A (p.Leu194Gln)
1g.17381994T>CCA338245315PADI6c.581T>C (p.Leu194Pro)
1g.17381994T>GCA338245321PADI6c.581T>G (p.Leu194Arg)
1g.17381995G>ACA416397733PADI6c.582G>A (p.Leu194=)
1g.17381995G>CCA416397735PADI6c.582G>C (p.Leu194=)
1g.17381995G>TCA416397738PADI6c.582G>T (p.Leu194=)
1g.17381996A>CCA338245325PADI6c.583A>C (p.Asn195His)
1g.17381996A>GCA338245345PADI6c.583A>G (p.Asn195Asp)
1g.17381996A>TCA338245347PADI6c.583A>T (p.Asn195Tyr)
1g.17381997A=CA1156237479PADI6c.584A= (p.Asn195=)
1g.17381997A>CCA338245355PADI6c.584A>C (p.Asn195Thr)
1g.17381997A>GCA338245358PADI6c.584A>G (p.Asn195Ser)
dbSNP gnomAD v2 gnomAD v4
1g.17381997A>TCA338245360PADI6c.584A>T (p.Asn195Ile)
1g.17381998T>ACA338245364PADI6c.585T>A (p.Asn195Lys)
1g.17381998T>CCA416397751PADI6c.585T>C (p.Asn195=)
1g.17381998T>GCA338245368PADI6c.585T>G (p.Asn195Lys)
1g.17381999G>ACA338245380PADI6c.586G>A (p.Val196Ile)
1g.17381999G>CCA338245372PADI6c.586G>C (p.Val196Leu)
1g.17381999G>TCA338245378PADI6c.586G>T (p.Val196Phe)
1g.17382000T>ACA338245386PADI6c.587T>A (p.Val196Asp)
1g.17382000T>CCA338245392PADI6c.587T>C (p.Val196Ala)
1g.17382000T>GCA338245399PADI6c.587T>G (p.Val196Gly)
1g.17382000T=CA1156237480PADI6c.587T= (p.Val196=)
1g.17382001C>ACA416397759PADI6c.588C>A (p.Val196=)
1g.17382001C=CA1156237481PADI6c.588C= (p.Val196=)
1g.17382001C>GCA416397760PADI6c.588C>G (p.Val196=)
dbSNP
1g.17382001C>TCA416397761PADI6c.588C>T (p.Val196=)
gnomAD v4
1g.17382002dupCA641417PADI6c.589dup (p.Gln197ProfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382002C>ACA338245400PADI6c.589C>A (p.Gln197Lys)
1g.17382002C>GCA338245402PADI6c.589C>G (p.Gln197Glu)
1g.17382002C>TCA338245403PADI6c.589C>T (p.Gln197Ter)
1g.17382003A>CCA338245407PADI6c.590A>C (p.Gln197Pro)
1g.17382003A>GCA338245414PADI6c.590A>G (p.Gln197Arg)
1g.17382003A>TCA338245417PADI6c.590A>T (p.Gln197Leu)
COSMIC
1g.17382004A=CA1156237482PADI6c.591A= (p.Gln197=)
1g.17382004A>CCA338245418PADI6c.591A>C (p.Gln197His)
dbSNP gnomAD v3 gnomAD v4
1g.17382004A>GCA416397772PADI6c.591A>G (p.Gln197=)
gnomAD v4
1g.17382004A>TCA338245419PADI6c.591A>T (p.Gln197His)
1g.17382005G>ACA338245422PADI6c.592G>A (p.Gly198Ser)
1g.17382005G>CCA338245421PADI6c.592G>C (p.Gly198Arg)
1g.17382005G>TCA338245420PADI6c.592G>T (p.Gly198Cys)
1g.17382006G>ACA338245432PADI6c.593G>A (p.Gly198Asp)
gnomAD v4
1g.17382006G>CCA338245437PADI6c.593G>C (p.Gly198Ala)
1g.17382006G=CA1156237483PADI6c.593G= (p.Gly198=)
1g.17382006G>TCA338245434PADI6c.593G>T (p.Gly198Val)
gnomAD v4 COSMIC
1g.17382007C>ACA416397795PADI6c.594C>A (p.Gly198=)
gnomAD v4
1g.17382007C=CA1156237484PADI6c.594C= (p.Gly198=)
1g.17382007C>GCA416397784PADI6c.594C>G (p.Gly198=)
1g.17382007C>TCA641419PADI6c.594C>T (p.Gly198=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382007_17382010delinsCCCCCA1148269912PADI6c.594_597delinsCCCC (p.Gly198=)
1g.17382010dupCA641418PADI6c.597dup (p.Ser200GlnfsTer?)
dbSNP ExAC gnomAD v2
1g.17382008C>ACA338245451PADI6c.595C>A (p.Pro199Thr)
1g.17382008C=CA1156237485PADI6c.595C= (p.Pro199=)
1g.17382008C>GCA338245452PADI6c.595C>G (p.Pro199Ala)
1g.17382008C>TCA338245453PADI6c.595C>T (p.Pro199Ser)
dbSNP
1g.17382009C>ACA338245460PADI6c.596C>A (p.Pro199His)
1g.17382009C>GCA338245463PADI6c.596C>G (p.Pro199Arg)
1g.17382009C>TCA338245469PADI6c.596C>T (p.Pro199Leu)
gnomAD v4
1g.17382010C>ACA416397804PADI6c.597C>A (p.Pro199=)
1g.17382010C>GCA416397805PADI6c.597C>G (p.Pro199=)
1g.17382010C>TCA416397806PADI6c.597C>T (p.Pro199=)
gnomAD v4
1g.17382011A=CA1143645431PADI6c.598A= (p.Ser200=)
1g.17382011A>CCA338245472PADI6c.598A>C (p.Ser200Arg)
1g.17382011A>GCA641420PADI6c.598A>G (p.Ser200Gly)
dbSNP ExAC gnomAD v2
1g.17382011A>TCA338245484PADI6c.598A>T (p.Ser200Cys)
1g.17382012G>ACA338245494PADI6c.599G>A (p.Ser200Asn)
1g.17382012G>CCA338245489PADI6c.599G>C (p.Ser200Thr)
gnomAD v4
1g.17382012G>TCA338245487PADI6c.599G>T (p.Ser200Ile)
COSMIC
1g.17382013C>ACA338245499PADI6c.600C>A (p.Ser200Arg)
1g.17382013C=CA1156237486PADI6c.600C= (p.Ser200=)
1g.17382013C>GCA338245500PADI6c.600C>G (p.Ser200Arg)
dbSNP
1g.17382013C>TCA416397821PADI6c.600C>T (p.Ser200=)
gnomAD v4
1g.17382014T>ACA338245504PADI6c.601T>A (p.Cys201Ser)
1g.17382014T>CCA338245506PADI6c.601T>C (p.Cys201Arg)
1g.17382014T>GCA338245509PADI6c.601T>G (p.Cys201Gly)
1g.17382015G>ACA338245511PADI6c.602G>A (p.Cys201Tyr)
gnomAD v4
1g.17382015G>CCA641421PADI6c.602G>C (p.Cys201Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382015G=CA1156237487PADI6c.602G= (p.Cys201=)
1g.17382015G>TCA338245517PADI6c.602G>T (p.Cys201Phe)
1g.17382016T>ACA338245518PADI6c.603T>A (p.Cys201Ter)
1g.17382016T>CCA416397830PADI6c.603T>C (p.Cys201=)
gnomAD v4
1g.17382016T>GCA338245522PADI6c.603T>G (p.Cys201Trp)
1g.17382020_17382032delCA2574238133PADI6c.607_619del (p.Leu203GlyfsTer2)
1g.17382017A>CCA338245526PADI6c.604A>C (p.Ile202Leu)
1g.17382017A>GCA338245534PADI6c.604A>G (p.Ile202Val)
1g.17382017A>TCA338245537PADI6c.604A>T (p.Ile202Phe)
1g.17382018T>ACA338245545PADI6c.605T>A (p.Ile202Asn)
1g.17382018T>CCA338245549PADI6c.605T>C (p.Ile202Thr)
dbSNP gnomAD v2 gnomAD v4
1g.17382018T>GCA338245541PADI6c.605T>G (p.Ile202Ser)
1g.17382018T=CA1156237488PADI6c.605T= (p.Ile202=)
1g.17382019delCA2643699415PADI6c.606del (p.Leu203Ter)
gnomAD v4
1g.17382019C>ACA416397847PADI6c.606C>A (p.Ile202=)
1g.17382019C>GCA338245551PADI6c.606C>G (p.Ile202Met)
1g.17382019C>TCA416397849PADI6c.606C>T (p.Ile202=)
gnomAD v4
1g.17382020T>ACA338245573PADI6c.607T>A (p.Leu203Ile)
1g.17382020T>CCA416397852PADI6c.607T>C (p.Leu203=)
1g.17382020T>GCA338245577PADI6c.607T>G (p.Leu203Val)
1g.17382021T>ACA338245580PADI6c.608T>A (p.Leu203Ter)
1g.17382021T>CCA338245584PADI6c.608T>C (p.Leu203Ser)
1g.17382021T>GCA338245582PADI6c.608T>G (p.Leu203Ter)
1g.17382021_17382025delinsTAAAGCA1156237489PADI6c.608_612delinsTAAAG (p.Leu203=)
1g.17382022A>CCA338245586PADI6c.609A>C (p.Leu203Phe)
1g.17382022A>GCA416397860PADI6c.609A>G (p.Leu203=)
1g.17382022A>TCA338245589PADI6c.609A>T (p.Leu203Phe)
1g.17382025_17382028delCA1156237490PADI6c.612_615del (p.Lys204AsnfsTer4)
dbSNP
1g.17382023A>CCA338245593PADI6c.610A>C (p.Lys204Gln)
1g.17382023A>GCA338245596PADI6c.610A>G (p.Lys204Glu)
1g.17382023A>TCA338245599PADI6c.610A>T (p.Lys204Ter)
1g.17382024A>CCA338245601PADI6c.611A>C (p.Lys204Thr)
dbSNP
1g.17382024A>GCA338245613PADI6c.611A>G (p.Lys204Arg)
1g.17382024A>TCA338245618PADI6c.611A>T (p.Lys204Met)
1g.17382025G>ACA416397862PADI6c.612G>A (p.Lys204=)
1g.17382025G>CCA338245619PADI6c.612G>C (p.Lys204Asn)
1g.17382025G>TCA338245621PADI6c.612G>T (p.Lys204Asn)
1g.17382026A>CCA338245626PADI6c.613A>C (p.Lys205Gln)
1g.17382026A>GCA338245627PADI6c.613A>G (p.Lys205Glu)
1g.17382026A>TCA338245629PADI6c.613A>T (p.Lys205Ter)
1g.17382027A>CCA338245639PADI6c.614A>C (p.Lys205Thr)
1g.17382027A>GCA338245663PADI6c.614A>G (p.Lys205Arg)
1g.17382027A>TCA338245654PADI6c.614A>T (p.Lys205Ile)
1g.17382028A>CCA338245665PADI6c.615A>C (p.Lys205Asn)
1g.17382028A>GCA416397866PADI6c.615A>G (p.Lys205=)
1g.17382028A>TCA338245667PADI6c.615A>T (p.Lys205Asn)
1g.17382028_17382029insCACCAAACACACCCAACACACA2742648690PADI6c.615_616insCACCAAACACACCCAACACA (p.Tyr206HisfsTer10)
1g.17382029T>ACA338245669PADI6c.616T>A (p.Tyr206Asn)
1g.17382029T>CCA338245672PADI6c.616T>C (p.Tyr206His)
1g.17382029T>GCA338245675PADI6c.616T>G (p.Tyr206Asp)
1g.17382029T=CA1156237491PADI6c.616T= (p.Tyr206=)
1g.17382030A=CA1156237492PADI6c.617A= (p.Tyr206=)
1g.17382030A>CCA338245681PADI6c.617A>C (p.Tyr206Ser)
1g.17382030A>GCA338245684PADI6c.617A>G (p.Tyr206Cys)
dbSNP gnomAD v4
1g.17382030A>TCA338245688PADI6c.617A>T (p.Tyr206Phe)
1g.17382030dupCA641422PADI6c.617dup (p.Tyr206Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17382031T>ACA338245689PADI6c.618T>A (p.Tyr206Ter)
1g.17382031T>CCA416397871PADI6c.618T>C (p.Tyr206=)
dbSNP
1g.17382031T>GCA338245690PADI6c.618T>G (p.Tyr206Ter)
1g.17382031T=CA1156237493PADI6c.618T= (p.Tyr206=)
1g.17382032C>ACA416397872PADI6c.619C>A (p.Arg207=)
gnomAD v4
1g.17382032C=CA1143881610PADI6c.619C= (p.Arg207=)
1g.17382032C>GCA338245691PADI6c.619C>G (p.Arg207Gly)
1g.17382032C>TCA641423PADI6c.619C>T (p.Arg207Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17382033G>ACA641424PADI6c.620G>A (p.Arg207Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17382033G>CCA338245695PADI6c.620G>C (p.Arg207Pro)
1g.17382033G=CA1140728739PADI6c.620G= (p.Arg207=)
1g.17382033G>TCA338245697PADI6c.620G>T (p.Arg207Leu)
1g.17382034G>ACA416397874PADI6c.621G>A (p.Arg207=)
gnomAD v4
1g.17382034G>CCA416397876PADI6c.621G>C (p.Arg207=)
gnomAD v4
1g.17382034G>TCA416397878PADI6c.621G>T (p.Arg207=)
1g.17382035C>ACA338245701PADI6c.622C>A (p.Leu208Ile)
1g.17382035C=CA1143699743PADI6c.622C= (p.Leu208=)
1g.17382035C>GCA338245703PADI6c.622C>G (p.Leu208Val)
dbSNP gnomAD v2
1g.17382035C>TCA18631223PADI6c.622C>T (p.Leu208=)
dbSNP
1g.17382036T>ACA338245707PADI6c.623T>A (p.Leu208Gln)
1g.17382036T>CCA338245708PADI6c.623T>C (p.Leu208Pro)
1g.17382036T>GCA338245709PADI6c.623T>G (p.Leu208Arg)
1g.17382037A>CCA416397885PADI6c.624A>C (p.Leu208=)
1g.17382037A>GCA416397886PADI6c.624A>G (p.Leu208=)
1g.17382037A>TCA416397887PADI6c.624A>T (p.Leu208=)
1g.17382038G>ACA641425PADI6c.625G>A (p.Val209Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382038G>CCA338245714PADI6c.625G>C (p.Val209Leu)
1g.17382038G=CA1156237494PADI6c.625G= (p.Val209=)
1g.17382038G>TCA338245716PADI6c.625G>T (p.Val209Phe)
1g.17382039T>ACA641426PADI6c.626T>A (p.Val209Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382039T>CCA338245722PADI6c.626T>C (p.Val209Ala)
1g.17382039T>GCA338245720PADI6c.626T>G (p.Val209Gly)
1g.17382039T=CA1148233149PADI6c.626T= (p.Val209=)
1g.17382040C>ACA641427PADI6c.627C>A (p.Val209=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382040C=CA1156237495PADI6c.627C= (p.Val209=)
1g.17382040C>GCA416397888PADI6c.627C>G (p.Val209=)
1g.17382040C>TCA416397889PADI6c.627C>T (p.Val209=)
1g.17382041C>ACA338245733PADI6c.628C>A (p.Leu210Ile)
gnomAD v4
1g.17382041C>GCA338245734PADI6c.628C>G (p.Leu210Val)
1g.17382041C>TCA338245735PADI6c.628C>T (p.Leu210Phe)
1g.17382042T>ACA338245738PADI6c.629T>A (p.Leu210His)
1g.17382042T>CCA338245743PADI6c.629T>C (p.Leu210Pro)
1g.17382042T>GCA338245747PADI6c.629T>G (p.Leu210Arg)
1g.17382043C>ACA416397890PADI6c.630C>A (p.Leu210=)
1g.17382043C=CA1156237496PADI6c.630C= (p.Leu210=)
1g.17382043C>GCA416397891PADI6c.630C>G (p.Leu210=)
1g.17382043C>TCA416397892PADI6c.630C>T (p.Leu210=)
dbSNP gnomAD v3 gnomAD v4
1g.17382044C>ACA338245750PADI6c.631C>A (p.His211Asn)
1g.17382044C>GCA338245751PADI6c.631C>G (p.His211Asp)
1g.17382044C>TCA338245752PADI6c.631C>T (p.His211Tyr)
1g.17382045A>CCA338245754PADI6c.632A>C (p.His211Pro)
1g.17382045A>GCA338245756PADI6c.632A>G (p.His211Arg)
1g.17382045A>TCA338245758PADI6c.632A>T (p.His211Leu)
1g.17382046T>ACA641428PADI6c.633T>A (p.His211Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382046T>CCA416397899PADI6c.633T>C (p.His211=)
1g.17382046T>GCA338245761PADI6c.633T>G (p.His211Gln)
1g.17382046T=CA1156237497PADI6c.633T= (p.His211=)
1g.17382047A=CA1156237498PADI6c.634A= (p.Thr212=)
1g.17382047A>CCA338245778PADI6c.634A>C (p.Thr212Pro)
dbSNP
1g.17382047A>GCA338245783PADI6c.634A>G (p.Thr212Ala)
gnomAD v4
1g.17382047A>TCA338245781PADI6c.634A>T (p.Thr212Ser)
1g.17382048C>ACA338245787PADI6c.635C>A (p.Thr212Asn)
1g.17382048C=CA1156237499PADI6c.635C= (p.Thr212=)
1g.17382048C>GCA338245789PADI6c.635C>G (p.Thr212Ser)
1g.17382048C>TCA18631255PADI6c.635C>T (p.Thr212Ile)
dbSNP gnomAD v4
1g.17382049C>ACA416397918PADI6c.636C>A (p.Thr212=)
1g.17382049C=CA1156237500PADI6c.636C= (p.Thr212=)
1g.17382049C>GCA416397922PADI6c.636C>G (p.Thr212=)
1g.17382049C>TCA416397924PADI6c.636C>T (p.Thr212=)
dbSNP gnomAD v2 gnomAD v4
1g.17382050_17382051dupCA2643699416PADI6c.637_638dup (p.Lys214ProfsTer?)
gnomAD v4
1g.17382050T>ACA338245796PADI6c.637T>A (p.Ser213Thr)
1g.17382050T>CCA338245800PADI6c.637T>C (p.Ser213Pro)
1g.17382050T>GCA338245808PADI6c.637T>G (p.Ser213Ala)
1g.17382051C>ACA338245811PADI6c.638C>A (p.Ser213Tyr)
1g.17382051C>GCA338245813PADI6c.638C>G (p.Ser213Cys)
1g.17382051C>TCA338245816PADI6c.638C>T (p.Ser213Phe)
1g.17382052C>ACA416397933PADI6c.639C>A (p.Ser213=)
gnomAD v4
1g.17382052C=CA1156237501PADI6c.639C= (p.Ser213=)
1g.17382052C>GCA416397936PADI6c.639C>G (p.Ser213=)
1g.17382052C>TCA416397937PADI6c.639C>T (p.Ser213=)
dbSNP gnomAD v4 COSMIC
1g.17382053A>CCA338245820PADI6c.640A>C (p.Lys214Gln)
dbSNP
1g.17382053A>GCA338245823PADI6c.640A>G (p.Lys214Glu)
1g.17382053A>TCA338245826PADI6c.640A>T (p.Lys214Ter)
1g.17382054A=CA1156237502PADI6c.641A= (p.Lys214=)
1g.17382054A>CCA338245839PADI6c.641A>C (p.Lys214Thr)
1g.17382054A>GCA338245836PADI6c.641A>G (p.Lys214Arg)
1g.17382054A>TCA338245838PADI6c.641A>T (p.Lys214Met)
1g.17382055G>ACA641429PADI6c.642G>A (p.Lys214=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.17382055G>CCA338245844PADI6c.642G>C (p.Lys214Asn)
1g.17382055G=CA1156237503PADI6c.642G= (p.Lys214=)
1g.17382055G>TCA338245847PADI6c.642G>T (p.Lys214Asn)
1g.17382056dupCA1156237504PADI6c.643dup (p.Glu215GlyfsTer20)
dbSNP
1g.17382056G>ACA338245851PADI6c.643G>A (p.Glu215Lys)
COSMIC
1g.17382056G>CCA338245854PADI6c.643G>C (p.Glu215Gln)
1g.17382056G>TCA338245857PADI6c.643G>T (p.Glu215Ter)
1g.17382057A>CCA338245862PADI6c.644A>C (p.Glu215Ala)
1g.17382057A>GCA338245867PADI6c.644A>G (p.Glu215Gly)
1g.17382057A>TCA338245876PADI6c.644A>T (p.Glu215Val)
1g.17382058A>CCA338245877PADI6c.645A>C (p.Glu215Asp)
gnomAD v4
1g.17382058A>GCA416397965PADI6c.645A>G (p.Glu215=)
gnomAD v4
1g.17382058A>TCA338245881PADI6c.645A>T (p.Glu215Asp)

Number of alleles fetched