Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4945884_4945889delCA2635583018PFN1c.*17_*22del (n.*17_*22del)
c.*524_*529del (n.*524_*529del)
 gnomAD v4
17g.4945889G>TCA2635583054PFN1c.*11C>A (n.*11C>A)
c.*518C>A (n.*518C>A)
 gnomAD v4
17g.4945890A=CA2244642449PFN1c.*10T= (n.*10T=)
c.*517T= (n.*517T=)
17g.4945890A>CCA624624146PFN1c.*10T>G (n.*10T>G)
c.*517T>G (n.*517T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4945890A>GCA624624147PFN1c.*10T>C (n.*10T>C)
c.*517T>C (n.*517T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4945891C>ACA980974488PFN1c.*9G>T (n.*9G>T)
c.*516G>T (n.*516G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4945891C=CA2244642452PFN1c.*9G= (n.*9G=)
c.*516G= (n.*516G=)
17g.4945891C>GCA2635583058PFN1c.*9G>C (n.*9G>C)
c.*516G>C (n.*516G>C)
 gnomAD v4
17g.4945891C>TCA2635583060PFN1c.*9G>A (n.*9G>A)
c.*516G>A (n.*516G>A)
 gnomAD v4
17g.4945892A>GCA2635583062PFN1c.*8T>C (n.*8T>C)
c.*515T>C (n.*515T>C)
 gnomAD v4
17g.4945892_4945893delinsAGCA2244642455PFN1c.*7_*8delinsCT (n.*7_*8delinsCT)
c.*514_*515delinsCT (n.*514_*515delinsCT)
17g.4945893delCA624624148PFN1c.*7del (n.*7del)
c.*514del (n.*514del)
 dbSNP gnomAD v2 gnomAD v4
17g.4945893G>ACA2635583063PFN1c.*7C>T (n.*7C>T)
c.*514C>T (n.*514C>T)
 gnomAD v4
17g.4945893G>CCA8315886PFN1c.*7C>G (n.*7C>G)
c.*514C>G (n.*514C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945893G=CA2244642460PFN1c.*7C= (n.*7C=)
c.*514C= (n.*514C=)
17g.4945893G>TCA2635583064PFN1c.*7C>A (n.*7C>A)
c.*514C>A (n.*514C>A)
 gnomAD v4
17g.4945894A=CA2244642466PFN1c.*6T= (n.*6T=)
c.*513T= (n.*513T=)
17g.4945894A>GCA624624149PFN1c.*6T>C (n.*6T>C)
c.*513T>C (n.*513T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4945895C>ACA624624150PFN1c.*5G>T (n.*5G>T)
c.*512G>T (n.*512G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4945895C=CA2244642470PFN1c.*5G= (n.*5G=)
c.*512G= (n.*512G=)
17g.4945895C>GCA2635583072PFN1c.*5G>C (n.*5G>C)
c.*512G>C (n.*512G>C)
 gnomAD v4
17g.4945895C>TCA8315887PFN1c.*5G>A (n.*5G>A)
c.*512G>A (n.*512G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945896G>ACA8315888PFN1c.*4C>T (n.*4C>T)
c.*511C>T (n.*511C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945896G=CA2244642471PFN1c.*4C= (n.*4C=)
c.*511C= (n.*511C=)
17g.4945896G>TCA2635583079PFN1c.*4C>A (n.*4C>A)
c.*511C>A (n.*511C>A)
 gnomAD v4
17g.4945898G>TCA2635583082PFN1c.*2C>A (n.*2C>A)
c.*509C>A (n.*509C>A)
 gnomAD v4
17g.4945899G>ACA2635583084PFN1c.*1C>T (n.*1C>T)
c.*508C>T (n.*508C>T)
 gnomAD v4
17g.4945899G>TCA2635583086PFN1c.*1C>A (n.*1C>A)
c.*508C>A (n.*508C>A)
 gnomAD v4
17g.4945900T>ACA397337957PFN1c.423A>T (p.Ter141Cys)
c.315A>T (p.Ter105Cys)
c.*507A>T (n.*507A>T)
17g.4945900T>CCA397337959PFN1c.423A>G (p.Ter141Trp)
c.315A>G (p.Ter105Trp)
c.*507A>G (n.*507A>G)
17g.4945900T>GCA397337961PFN1c.423A>C (p.Ter141Cys)
c.315A>C (p.Ter105Cys)
c.*507A>C (n.*507A>C)
17g.4945901C>ACA397337962PFN1c.422G>T (p.Ter141Leu)
c.314G>T (p.Ter105Leu)
c.*506G>T (n.*506G>T)
17g.4945901C>GCA397337964PFN1c.422G>C (p.Ter141Ser)
c.314G>C (p.Ter105Ser)
c.*506G>C (n.*506G>C)
17g.4945901C>TCA497546870PFN1c.422G>A (p.Ter141=)
c.314G>A (p.Ter105=)
c.*506G>A (n.*506G>A)
 gnomAD v4 COSMIC
17g.4945901_4945902dupCA2635583089PFN1c.421_422dup (p.Ter141CysextTer?)
c.313_314dup (p.Ter105CysextTer?)
c.*505_*506dup (n.*505_*506dup)
 gnomAD v4
17g.4945902A>CCA397337973PFN1c.421T>G (p.Ter141Gly)
c.313T>G (p.Ter105Gly)
c.*505T>G (n.*505T>G)
17g.4945902A>GCA397337971PFN1c.421T>C (p.Ter141Arg)
c.313T>C (p.Ter105Arg)
c.*505T>C (n.*505T>C)
 gnomAD v4
17g.4945902A>TCA397337968PFN1c.421T>A (p.Ter141Arg)
c.313T>A (p.Ter105Arg)
c.*505T>A (n.*505T>A)
17g.4945903G>ACA8315889PFN1c.420C>T (p.Tyr140=)
c.312C>T (p.Tyr104=)
c.*504C>T (n.*504C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945903G>CCA397337980PFN1c.420C>G (p.Tyr140Ter)
c.312C>G (p.Tyr104Ter)
c.*504C>G (n.*504C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4945903G=CA2244642473PFN1c.420C= (p.Tyr140=)
c.312C= (p.Tyr104=)
c.*504C= (n.*504C=)
17g.4945903G>TCA397337977PFN1c.420C>A (p.Tyr140Ter)
c.312C>A (p.Tyr104Ter)
c.*504C>A (n.*504C>A)
 gnomAD v4
17g.4945904T>ACA397337983PFN1c.419A>T (p.Tyr140Phe)
c.311A>T (p.Tyr104Phe)
c.*503A>T (n.*503A>T)
17g.4945904T>CCA397337986PFN1c.419A>G (p.Tyr140Cys)
c.311A>G (p.Tyr104Cys)
c.*503A>G (n.*503A>G)
 gnomAD v4
17g.4945904T>GCA397337988PFN1c.419A>C (p.Tyr140Ser)
c.311A>C (p.Tyr104Ser)
c.*503A>C (n.*503A>C)
17g.4945905A>CCA397337991PFN1c.418T>G (p.Tyr140Asp)
c.310T>G (p.Tyr104Asp)
c.*502T>G (n.*502T>G)
17g.4945905A>GCA397337994PFN1c.418T>C (p.Tyr140His)
c.310T>C (p.Tyr104His)
c.*502T>C (n.*502T>C)
 gnomAD v4
17g.4945905A>TCA397337997PFN1c.418T>A (p.Tyr140Asn)
c.310T>A (p.Tyr104Asn)
c.*502T>A (n.*502T>A)
17g.4945906C>ACA397338001PFN1c.417G>T (p.Gln139His)
c.309G>T (p.Gln103His)
c.*501G>T (n.*501G>T)
17g.4945906C=CA2244642477PFN1c.417G= (p.Gln139=)
c.309G= (p.Gln103=)
c.*501G= (n.*501G=)
17g.4945906C>GCA397338004PFN1c.417G>C (p.Gln139His)
c.309G>C (p.Gln103His)
c.*501G>C (n.*501G>C)
17g.4945906C>TCA8315890PFN1c.417G>A (p.Gln139=)
c.309G>A (p.Gln103=)
c.*501G>A (n.*501G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945907T>ACA397338010PFN1c.416A>T (p.Gln139Leu)
c.308A>T (p.Gln103Leu)
c.*500A>T (n.*500A>T)
17g.4945907T>CCA397338013PFN1c.416A>G (p.Gln139Arg)
c.308A>G (p.Gln103Arg)
c.*500A>G (n.*500A>G)
 gnomAD v4
17g.4945907T>GCA397338016PFN1c.416A>C (p.Gln139Pro)
c.308A>C (p.Gln103Pro)
c.*500A>C (n.*500A>C)
17g.4945908G>ACA397338018PFN1c.415C>T (p.Gln139Ter)
c.307C>T (p.Gln103Ter)
c.*499C>T (n.*499C>T)
17g.4945908G>CCA397338024PFN1c.415C>G (p.Gln139Glu)
c.307C>G (p.Gln103Glu)
c.*499C>G (n.*499C>G)
17g.4945908G>TCA397338021PFN1c.415C>A (p.Gln139Lys)
c.307C>A (p.Gln103Lys)
c.*499C>A (n.*499C>A)
 gnomAD v4
17g.4945909G>ACA497546873PFN1c.414C>T (p.Ser138=)
c.306C>T (p.Ser102=)
c.*498C>T (n.*498C>T)
17g.4945909G>CCA497546872PFN1c.414C>G (p.Ser138=)
c.306C>G (p.Ser102=)
c.*498C>G (n.*498C>G)
17g.4945909G>TCA497546871PFN1c.414C>A (p.Ser138=)
c.306C>A (p.Ser102=)
c.*498C>A (n.*498C>A)
17g.4945910G>ACA397338027PFN1c.413C>T (p.Ser138Phe)
c.305C>T (p.Ser102Phe)
c.*497C>T (n.*497C>T)
17g.4945910G>CCA397338028PFN1c.413C>G (p.Ser138Cys)
c.305C>G (p.Ser102Cys)
c.*497C>G (n.*497C>G)
17g.4945910G>TCA397338030PFN1c.413C>A (p.Ser138Tyr)
c.305C>A (p.Ser102Tyr)
c.*497C>A (n.*497C>A)
 gnomAD v4
17g.4945911A>CCA397338032PFN1c.412T>G (p.Ser138Ala)
c.304T>G (p.Ser102Ala)
c.*496T>G (n.*496T>G)
17g.4945911A>GCA397338035PFN1c.412T>C (p.Ser138Pro)
c.304T>C (p.Ser102Pro)
c.*496T>C (n.*496T>C)
17g.4945911A>TCA397338037PFN1c.412T>A (p.Ser138Thr)
c.304T>A (p.Ser102Thr)
c.*496T>A (n.*496T>A)
17g.4945912A>CCA497546874PFN1c.411T>G (p.Arg137=)
c.303T>G (p.Arg101=)
c.*495T>G (n.*495T>G)
17g.4945912A>GCA497546875PFN1c.411T>C (p.Arg137=)
c.303T>C (p.Arg101=)
c.*495T>C (n.*495T>C)
17g.4945912A>TCA497546876PFN1c.411T>A (p.Arg137=)
c.303T>A (p.Arg101=)
c.*495T>A (n.*495T>A)
 gnomAD v4
17g.4945913C>ACA397338040PFN1c.410G>T (p.Arg137Leu)
c.302G>T (p.Arg101Leu)
c.*494G>T (n.*494G>T)
17g.4945913C=CA2244642482PFN1c.410G= (p.Arg137=)
c.302G= (p.Arg101=)
c.*494G= (n.*494G=)
17g.4945913C>GCA397338043PFN1c.410G>C (p.Arg137Pro)
c.302G>C (p.Arg101Pro)
c.*494G>C (n.*494G>C)
17g.4945913C>TCA397338046PFN1c.410G>A (p.Arg137His)
c.302G>A (p.Arg101His)
c.*494G>A (n.*494G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4945914G>ACA8315891PFN1c.409C>T (p.Arg137Cys)
c.301C>T (p.Arg101Cys)
c.*493C>T (n.*493C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945914G>CCA397338050PFN1c.409C>G (p.Arg137Gly)
c.301C>G (p.Arg101Gly)
c.*493C>G (n.*493C>G)
17g.4945914G=CA2244642485PFN1c.409C= (p.Arg137=)
c.301C= (p.Arg101=)
c.*493C= (n.*493C=)
17g.4945914G>TCA397338048PFN1c.409C>A (p.Arg137Ser)
c.301C>A (p.Arg101Ser)
c.*493C>A (n.*493C>A)
 gnomAD v4
17g.4945915C>ACA497546877PFN1c.408G>T (p.Arg136=)
c.300G>T (p.Arg100=)
c.*492G>T (n.*492G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4945915C=CA2244642489PFN1c.408G= (p.Arg136=)
c.300G= (p.Arg100=)
c.*492G= (n.*492G=)
17g.4945915C>GCA497546878PFN1c.408G>C (p.Arg136=)
c.300G>C (p.Arg100=)
c.*492G>C (n.*492G>C)
17g.4945915C>TCA497546879PFN1c.408G>A (p.Arg136=)
c.300G>A (p.Arg100=)
c.*492G>A (n.*492G>A)
17g.4945916C>ACA397338053PFN1c.407G>T (p.Arg136Leu)
c.299G>T (p.Arg100Leu)
c.*491G>T (n.*491G>T)
17g.4945916C>GCA397338055PFN1c.407G>C (p.Arg136Pro)
c.299G>C (p.Arg100Pro)
c.*491G>C (n.*491G>C)
17g.4945916C>TCA397338058PFN1c.407G>A (p.Arg136Gln)
c.299G>A (p.Arg100Gln)
c.*491G>A (n.*491G>A)
 gnomAD v4
17g.4945917G>ACA397338067PFN1c.406C>T (p.Arg136Trp)
c.298C>T (p.Arg100Trp)
c.*490C>T (n.*490C>T)
 ClinVar dbSNP gnomAD v4
17g.4945917G>CCA397338070PFN1c.406C>G (p.Arg136Gly)
c.298C>G (p.Arg100Gly)
c.*490C>G (n.*490C>G)
17g.4945917G=CA2244642494PFN1c.406C= (p.Arg136=)
c.298C= (p.Arg100=)
c.*490C= (n.*490C=)
17g.4945917G>TCA287230763PFN1c.406C>A (p.Arg136=)
c.298C>A (p.Arg100=)
c.*490C>A (n.*490C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4945918A=CA2244642498PFN1c.405T= (p.Leu135=)
c.297T= (p.Leu99=)
c.*489T= (n.*489T=)
17g.4945918A>CCA497546880PFN1c.405T>G (p.Leu135=)
c.297T>G (p.Leu99=)
c.*489T>G (n.*489T>G)
 dbSNP
17g.4945918A>GCA497546881PFN1c.405T>C (p.Leu135=)
c.297T>C (p.Leu99=)
c.*489T>C (n.*489T>C)
17g.4945918A>TCA497546882PFN1c.405T>A (p.Leu135=)
c.297T>A (p.Leu99=)
c.*489T>A (n.*489T>A)
17g.4945919A>CCA397338075PFN1c.404T>G (p.Leu135Arg)
c.296T>G (p.Leu99Arg)
c.*488T>G (n.*488T>G)
 ClinVar
17g.4945919A>GCA397338078PFN1c.404T>C (p.Leu135Pro)
c.296T>C (p.Leu99Pro)
c.*488T>C (n.*488T>C)
17g.4945919A>TCA397338080PFN1c.404T>A (p.Leu135His)
c.296T>A (p.Leu99His)
c.*488T>A (n.*488T>A)
17g.4945920G>ACA397338083PFN1c.403C>T (p.Leu135Phe)
c.295C>T (p.Leu99Phe)
c.*487C>T (n.*487C>T)
 gnomAD v4
17g.4945920G>CCA397338085PFN1c.403C>G (p.Leu135Val)
c.295C>G (p.Leu99Val)
c.*487C>G (n.*487C>G)
17g.4945920G>TCA397338088PFN1c.403C>A (p.Leu135Ile)
c.295C>A (p.Leu99Ile)
c.*487C>A (n.*487C>A)
17g.4945921G>ACA287230765PFN1c.402C>T (p.His134=)
c.294C>T (p.His98=)
c.*486C>T (n.*486C>T)
 dbSNP gnomAD v4
17g.4945921G>CCA397338096PFN1c.402C>G (p.His134Gln)
c.294C>G (p.His98Gln)
c.*486C>G (n.*486C>G)
17g.4945921G=CA2244642502PFN1c.402C= (p.His134=)
c.294C= (p.His98=)
c.*486C= (n.*486C=)
17g.4945921G>TCA397338091PFN1c.402C>A (p.His134Gln)
c.294C>A (p.His98Gln)
c.*486C>A (n.*486C>A)
17g.4945922T>ACA397338099PFN1c.401A>T (p.His134Leu)
c.293A>T (p.His98Leu)
c.*485A>T (n.*485A>T)
17g.4945922T>CCA397338100PFN1c.401A>G (p.His134Arg)
c.293A>G (p.His98Arg)
c.*485A>G (n.*485A>G)
17g.4945922T>GCA287230771PFN1c.401A>C (p.His134Pro)
c.293A>C (p.His98Pro)
c.*485A>C (n.*485A>C)
 ClinVar dbSNP
17g.4945922T=CA2244642505PFN1c.401A= (p.His134=)
c.293A= (p.His98=)
c.*485A= (n.*485A=)
17g.4945923G>ACA397338104PFN1c.400C>T (p.His134Tyr)
c.292C>T (p.His98Tyr)
c.*484C>T (n.*484C>T)
17g.4945923G>CCA397338107PFN1c.400C>G (p.His134Asp)
c.292C>G (p.His98Asp)
c.*484C>G (n.*484C>G)
17g.4945923G>TCA397338110PFN1c.400C>A (p.His134Asn)
c.292C>A (p.His98Asn)
c.*484C>A (n.*484C>A)
 gnomAD v4
17g.4945925delCA2576136456PFN1c.400del (p.His134ThrfsTer?)
c.292del (p.His98ThrfsTer?)
c.*484del (n.*484del)
17g.4945924G>ACA8315892PFN1c.399C>T (p.Ser133=)
c.291C>T (p.Ser97=)
c.*483C>T (n.*483C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945924G>CCA497546883PFN1c.399C>G (p.Ser133=)
c.291C>G (p.Ser97=)
c.*483C>G (n.*483C>G)
17g.4945924G=CA2244642510PFN1c.399C= (p.Ser133=)
c.291C= (p.Ser97=)
c.*483C= (n.*483C=)
17g.4945924G>TCA497546884PFN1c.399C>A (p.Ser133=)
c.291C>A (p.Ser97=)
c.*483C>A (n.*483C>A)
 gnomAD v4
17g.4945925G>ACA397338114PFN1c.398C>T (p.Ser133Phe)
c.290C>T (p.Ser97Phe)
c.*482C>T (n.*482C>T)
17g.4945925G>CCA397338116PFN1c.398C>G (p.Ser133Cys)
c.290C>G (p.Ser97Cys)
c.*482C>G (n.*482C>G)
17g.4945925G>TCA397338119PFN1c.398C>A (p.Ser133Tyr)
c.290C>A (p.Ser97Tyr)
c.*482C>A (n.*482C>A)
17g.4945926A>CCA397338121PFN1c.397T>G (p.Ser133Ala)
c.289T>G (p.Ser97Ala)
c.*481T>G (n.*481T>G)
17g.4945926A>GCA397338124PFN1c.397T>C (p.Ser133Pro)
c.289T>C (p.Ser97Pro)
c.*481T>C (n.*481T>C)
17g.4945926A>TCA397338126PFN1c.397T>A (p.Ser133Thr)
c.289T>A (p.Ser97Thr)
c.*481T>A (n.*481T>A)
17g.4945927G>ACA8315893PFN1c.396C>T (p.Ala132=)
c.288C>T (p.Ala96=)
c.*480C>T (n.*480C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4945927G>CCA497546885PFN1c.396C>G (p.Ala132=)
c.288C>G (p.Ala96=)
c.*480C>G (n.*480C>G)
17g.4945927G=CA2244642514PFN1c.396C= (p.Ala132=)
c.288C= (p.Ala96=)
c.*480C= (n.*480C=)
17g.4945927G>TCA497546886PFN1c.396C>A (p.Ala132=)
c.288C>A (p.Ala96=)
c.*480C>A (n.*480C>A)
17g.4945928G>ACA397338129PFN1c.395C>T (p.Ala132Val)
c.287C>T (p.Ala96Val)
c.*479C>T (n.*479C>T)
17g.4945928G>CCA397338131PFN1c.395C>G (p.Ala132Gly)
c.287C>G (p.Ala96Gly)
c.*479C>G (n.*479C>G)
17g.4945928G>TCA397338128PFN1c.395C>A (p.Ala132Asp)
c.287C>A (p.Ala96Asp)
c.*479C>A (n.*479C>A)
17g.4945929C>ACA397338134PFN1c.394G>T (p.Ala132Ser)
c.286G>T (p.Ala96Ser)
c.*478G>T (n.*478G>T)
17g.4945929C>GCA397338136PFN1c.394G>C (p.Ala132Pro)
c.286G>C (p.Ala96Pro)
c.*478G>C (n.*478G>C)
17g.4945929C>TCA397338137PFN1c.394G>A (p.Ala132Thr)
c.286G>A (p.Ala96Thr)
c.*478G>A (n.*478G>A)
17g.4945930C>ACA397338139PFN1c.393G>T (p.Met131Ile)
c.285G>T (p.Met95Ile)
c.*477G>T (n.*477G>T)
17g.4945930C=CA2244642519PFN1c.393G= (p.Met131=)
c.285G= (p.Met95=)
c.*477G= (n.*477G=)
17g.4945930C>GCA397338141PFN1c.393G>C (p.Met131Ile)
c.285G>C (p.Met95Ile)
c.*477G>C (n.*477G>C)
17g.4945930C>TCA397338143PFN1c.393G>A (p.Met131Ile)
c.285G>A (p.Met95Ile)
c.*477G>A (n.*477G>A)
 dbSNP
17g.4945931A>CCA397338149PFN1c.392T>G (p.Met131Arg)
c.284T>G (p.Met95Arg)
c.*476T>G (n.*476T>G)
17g.4945931A>GCA397338145PFN1c.392T>C (p.Met131Thr)
c.284T>C (p.Met95Thr)
c.*476T>C (n.*476T>C)
17g.4945931A>TCA397338147PFN1c.392T>A (p.Met131Lys)
c.284T>A (p.Met95Lys)
c.*476T>A (n.*476T>A)
17g.4945932T>ACA397338150PFN1c.391A>T (p.Met131Leu)
c.283A>T (p.Met95Leu)
c.*475A>T (n.*475A>T)
17g.4945932T>CCA397338151PFN1c.391A>G (p.Met131Val)
c.283A>G (p.Met95Val)
c.*475A>G (n.*475A>G)
 gnomAD v4
17g.4945932T>GCA397338152PFN1c.391A>C (p.Met131Leu)
c.283A>C (p.Met95Leu)
c.*475A>C (n.*475A>C)
17g.4945933T>ACA397338154PFN1c.390A>T (p.Glu130Asp)
c.282A>T (p.Glu94Asp)
c.*474A>T (n.*474A>T)
17g.4945933T>CCA497546887PFN1c.390A>G (p.Glu130=)
c.282A>G (p.Glu94=)
c.*474A>G (n.*474A>G)
17g.4945933T>GCA397338156PFN1c.390A>C (p.Glu130Asp)
c.282A>C (p.Glu94Asp)
c.*474A>C (n.*474A>C)
17g.4945934T>ACA397338160PFN1c.389A>T (p.Glu130Val)
c.281A>T (p.Glu94Val)
c.*473A>T (n.*473A>T)
17g.4945934T>CCA397338157PFN1c.389A>G (p.Glu130Gly)
c.281A>G (p.Glu94Gly)
c.*473A>G (n.*473A>G)
17g.4945934T>GCA397338158PFN1c.389A>C (p.Glu130Ala)
c.281A>C (p.Glu94Ala)
c.*473A>C (n.*473A>C)
17g.4945935C>ACA397338163PFN1c.388G>T (p.Glu130Ter)
c.280G>T (p.Glu94Ter)
c.*472G>T (n.*472G>T)
17g.4945935C>GCA397338164PFN1c.388G>C (p.Glu130Gln)
c.280G>C (p.Glu94Gln)
c.*472G>C (n.*472G>C)
17g.4945935C>TCA397338166PFN1c.388G>A (p.Glu130Lys)
c.280G>A (p.Glu94Lys)
c.*472G>A (n.*472G>A)
17g.4945936A=CA2244642526PFN1c.387T= (p.Tyr129=)
c.279T= (p.Tyr93=)
c.*471T= (n.*471T=)
17g.4945936A>CCA397338168PFN1c.387T>G (p.Tyr129Ter)
c.279T>G (p.Tyr93Ter)
c.*471T>G (n.*471T>G)
17g.4945936A>GCA8315894PFN1c.387T>C (p.Tyr129=)
c.279T>C (p.Tyr93=)
c.*471T>C (n.*471T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945936A>TCA397338171PFN1c.387T>A (p.Tyr129Ter)
c.279T>A (p.Tyr93Ter)
c.*471T>A (n.*471T>A)
 gnomAD v4
17g.4945937T>ACA397338176PFN1c.386A>T (p.Tyr129Phe)
c.278A>T (p.Tyr93Phe)
c.*470A>T (n.*470A>T)
17g.4945937T>CCA397338173PFN1c.386A>G (p.Tyr129Cys)
c.278A>G (p.Tyr93Cys)
c.*470A>G (n.*470A>G)
17g.4945937T>GCA397338175PFN1c.386A>C (p.Tyr129Ser)
c.278A>C (p.Tyr93Ser)
c.*470A>C (n.*470A>C)
17g.4945938A>CCA397338178PFN1c.385T>G (p.Tyr129Asp)
c.277T>G (p.Tyr93Asp)
c.*469T>G (n.*469T>G)
17g.4945938A>GCA397338180PFN1c.385T>C (p.Tyr129His)
c.277T>C (p.Tyr93His)
c.*469T>C (n.*469T>C)
17g.4945938A>TCA397338182PFN1c.385T>A (p.Tyr129Asn)
c.277T>A (p.Tyr93Asn)
c.*469T>A (n.*469T>A)
17g.4945939A=CA2244642532PFN1c.384T= (p.Cys128=)
c.276T= (p.Cys92=)
c.*468T= (n.*468T=)
17g.4945939A>CCA397338184PFN1c.384T>G (p.Cys128Trp)
c.276T>G (p.Cys92Trp)
c.*468T>G (n.*468T>G)
17g.4945939A>GCA497546888PFN1c.384T>C (p.Cys128=)
c.276T>C (p.Cys92=)
c.*468T>C (n.*468T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4945939A>TCA397338186PFN1c.384T>A (p.Cys128Ter)
c.276T>A (p.Cys92Ter)
c.*468T>A (n.*468T>A)
17g.4945940C>ACA397338188PFN1c.383G>T (p.Cys128Phe)
c.275G>T (p.Cys92Phe)
c.*467G>T (n.*467G>T)
17g.4945940C>GCA397338191PFN1c.383G>C (p.Cys128Ser)
c.275G>C (p.Cys92Ser)
c.*467G>C (n.*467G>C)
17g.4945940C>TCA397338189PFN1c.383G>A (p.Cys128Tyr)
c.275G>A (p.Cys92Tyr)
c.*467G>A (n.*467G>A)
17g.4945941A>CCA397338193PFN1c.382T>G (p.Cys128Gly)
c.274T>G (p.Cys92Gly)
c.*466T>G (n.*466T>G)
 gnomAD v4
17g.4945941A>GCA397338195PFN1c.382T>C (p.Cys128Arg)
c.274T>C (p.Cys92Arg)
c.*466T>C (n.*466T>C)
17g.4945941A>TCA397338196PFN1c.382T>A (p.Cys128Ser)
c.274T>A (p.Cys92Ser)
c.*466T>A (n.*466T>A)
17g.4945942T>ACA397338198PFN1c.381A>T (p.Lys127Asn)
c.273A>T (p.Lys91Asn)
c.*465A>T (n.*465A>T)
17g.4945942T>CCA497546889PFN1c.381A>G (p.Lys127=)
c.273A>G (p.Lys91=)
c.*465A>G (n.*465A>G)
17g.4945942T>GCA397338200PFN1c.381A>C (p.Lys127Asn)
c.273A>C (p.Lys91Asn)
c.*465A>C (n.*465A>C)
17g.4945943T>ACA397338202PFN1c.380A>T (p.Lys127Ile)
c.272A>T (p.Lys91Ile)
c.*464A>T (n.*464A>T)
17g.4945943T>CCA397338203PFN1c.380A>G (p.Lys127Arg)
c.272A>G (p.Lys91Arg)
c.*464A>G (n.*464A>G)
17g.4945943T>GCA397338205PFN1c.380A>C (p.Lys127Thr)
c.272A>C (p.Lys91Thr)
c.*464A>C (n.*464A>C)
17g.4945944T>ACA397338207PFN1c.379A>T (p.Lys127Ter)
c.271A>T (p.Lys91Ter)
c.*463A>T (n.*463A>T)
17g.4945944T>CCA397338209PFN1c.379A>G (p.Lys127Glu)
c.271A>G (p.Lys91Glu)
c.*463A>G (n.*463A>G)
17g.4945944T>GCA397338210PFN1c.379A>C (p.Lys127Gln)
c.271A>C (p.Lys91Gln)
c.*463A>C (n.*463A>C)
17g.4945945C>ACA397338211PFN1c.378G>T (p.Lys126Asn)
c.270G>T (p.Lys90Asn)
c.*462G>T (n.*462G>T)
17g.4945945C>GCA397338213PFN1c.378G>C (p.Lys126Asn)
c.270G>C (p.Lys90Asn)
c.*462G>C (n.*462G>C)
17g.4945945C>TCA497546890PFN1c.378G>A (p.Lys126=)
c.270G>A (p.Lys90=)
c.*462G>A (n.*462G>A)
 gnomAD v4
17g.4945946T>ACA397338218PFN1c.377A>T (p.Lys126Met)
c.269A>T (p.Lys90Met)
c.*461A>T (n.*461A>T)
17g.4945946T>CCA397338215PFN1c.377A>G (p.Lys126Arg)
c.269A>G (p.Lys90Arg)
c.*461A>G (n.*461A>G)
17g.4945946T>GCA397338216PFN1c.377A>C (p.Lys126Thr)
c.269A>C (p.Lys90Thr)
c.*461A>C (n.*461A>C)
17g.4945947T>ACA397338220PFN1c.376A>T (p.Lys126Ter)
c.268A>T (p.Lys90Ter)
c.*460A>T (n.*460A>T)
17g.4945947T>CCA397338222PFN1c.376A>G (p.Lys126Glu)
c.268A>G (p.Lys90Glu)
c.*460A>G (n.*460A>G)
17g.4945947T>GCA397338223PFN1c.376A>C (p.Lys126Gln)
c.268A>C (p.Lys90Gln)
c.*460A>C (n.*460A>C)
17g.4945948G>ACA497546891PFN1c.375C>T (p.Asn125=)
c.267C>T (p.Asn89=)
c.*459C>T (n.*459C>T)
 gnomAD v4
17g.4945948G>CCA397338225PFN1c.375C>G (p.Asn125Lys)
c.267C>G (p.Asn89Lys)
c.*459C>G (n.*459C>G)
17g.4945948G>TCA397338227PFN1c.375C>A (p.Asn125Lys)
c.267C>A (p.Asn89Lys)
c.*459C>A (n.*459C>A)
17g.4945949T>ACA397338229PFN1c.374A>T (p.Asn125Ile)
c.266A>T (p.Asn89Ile)
c.*458A>T (n.*458A>T)
17g.4945949T>CCA397338230PFN1c.374A>G (p.Asn125Ser)
c.266A>G (p.Asn89Ser)
c.*458A>G (n.*458A>G)
17g.4945949T>GCA397338231PFN1c.374A>C (p.Asn125Thr)
c.266A>C (p.Asn89Thr)
c.*458A>C (n.*458A>C)
17g.4945950T>ACA397338232PFN1c.373A>T (p.Asn125Tyr)
c.265A>T (p.Asn89Tyr)
c.*457A>T (n.*457A>T)
17g.4945950T>CCA397338233PFN1c.373A>G (p.Asn125Asp)
c.265A>G (p.Asn89Asp)
c.*457A>G (n.*457A>G)
17g.4945950T>GCA397338236PFN1c.373A>C (p.Asn125His)
c.265A>C (p.Asn89His)
c.*457A>C (n.*457A>C)
17g.4945951G>ACA497546893PFN1c.372C>T (p.Ile124=)
c.264C>T (p.Ile88=)
c.*456C>T (n.*456C>T)
 dbSNP gnomAD v4
17g.4945951G>CCA397338238PFN1c.372C>G (p.Ile124Met)
c.264C>G (p.Ile88Met)
c.*456C>G (n.*456C>G)
 gnomAD v4
17g.4945951G=CA2244642534PFN1c.372C= (p.Ile124=)
c.264C= (p.Ile88=)
c.*456C= (n.*456C=)
17g.4945951G>TCA497546892PFN1c.372C>A (p.Ile124=)
c.264C>A (p.Ile88=)
c.*456C>A (n.*456C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4945952A>CCA397338241PFN1c.371T>G (p.Ile124Ser)
c.263T>G (p.Ile88Ser)
c.*455T>G (n.*455T>G)
17g.4945952A>GCA397338244PFN1c.371T>C (p.Ile124Thr)
c.263T>C (p.Ile88Thr)
c.*455T>C (n.*455T>C)
17g.4945952A>TCA397338242PFN1c.371T>A (p.Ile124Asn)
c.263T>A (p.Ile88Asn)
c.*455T>A (n.*455T>A)
17g.4945953T>ACA397338246PFN1c.370A>T (p.Ile124Phe)
c.262A>T (p.Ile88Phe)
c.*454A>T (n.*454A>T)
17g.4945953T>CCA397338250PFN1c.370A>G (p.Ile124Val)
c.262A>G (p.Ile88Val)
c.*454A>G (n.*454A>G)
17g.4945953T>GCA397338248PFN1c.370A>C (p.Ile124Leu)
c.262A>C (p.Ile88Leu)
c.*454A>C (n.*454A>C)
17g.4945954C>ACA397338252PFN1c.369G>T (p.Leu123Phe)
c.261G>T (p.Leu87Phe)
c.*453G>T (n.*453G>T)
17g.4945954C=CA2244642537PFN1c.369G= (p.Leu123=)
c.261G= (p.Leu87=)
c.*453G= (n.*453G=)
17g.4945954C>GCA287230784PFN1c.369G>C (p.Leu123Phe)
c.261G>C (p.Leu87Phe)
c.*453G>C (n.*453G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4945954C>TCA497546894PFN1c.369G>A (p.Leu123=)
c.261G>A (p.Leu87=)
c.*453G>A (n.*453G>A)
17g.4945955A>CCA397338255PFN1c.368T>G (p.Leu123Trp)
c.260T>G (p.Leu87Trp)
c.*452T>G (n.*452T>G)
17g.4945955A>GCA397338257PFN1c.368T>C (p.Leu123Ser)
c.260T>C (p.Leu87Ser)
c.*452T>C (n.*452T>C)
 gnomAD v4
17g.4945955A>TCA397338259PFN1c.368T>A (p.Leu123Ter)
c.260T>A (p.Leu87Ter)
c.*452T>A (n.*452T>A)
17g.4945956A=CA2244642539PFN1c.367T= (p.Leu123=)
c.259T= (p.Leu87=)
c.*451T= (n.*451T=)
17g.4945956A>CCA397338261PFN1c.367T>G (p.Leu123Val)
c.259T>G (p.Leu87Val)
c.*451T>G (n.*451T>G)
17g.4945956A>GCA497546895PFN1c.367T>C (p.Leu123=)
c.259T>C (p.Leu87=)
c.*451T>C (n.*451T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4945956A>TCA397338263PFN1c.367T>A (p.Leu123Met)
c.259T>A (p.Leu87Met)
c.*451T>A (n.*451T>A)
17g.4945957A=CA2244642542PFN1c.366T= (p.Gly122=)
c.258T= (p.Gly86=)
c.*450T= (n.*450T=)
17g.4945957A>CCA497546896PFN1c.366T>G (p.Gly122=)
c.258T>G (p.Gly86=)
c.*450T>G (n.*450T>G)
 dbSNP
17g.4945957A>GCA8315895PFN1c.366T>C (p.Gly122=)
c.258T>C (p.Gly86=)
c.*450T>C (n.*450T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4945957A>TCA497546897PFN1c.366T>A (p.Gly122=)
c.258T>A (p.Gly86=)
c.*450T>A (n.*450T>A)
17g.4945958C>ACA397338265PFN1c.365G>T (p.Gly122Val)
c.257G>T (p.Gly86Val)
c.*449G>T (n.*449G>T)
17g.4945958C>GCA397338266PFN1c.365G>C (p.Gly122Ala)
c.257G>C (p.Gly86Ala)
c.*449G>C (n.*449G>C)
17g.4945958C>TCA397338268PFN1c.365G>A (p.Gly122Asp)
c.257G>A (p.Gly86Asp)
c.*449G>A (n.*449G>A)
17g.4945959C>ACA397338273PFN1c.364G>T (p.Gly122Cys)
c.256G>T (p.Gly86Cys)
c.*448G>T (n.*448G>T)
17g.4945959C>GCA397338271PFN1c.364G>C (p.Gly122Arg)
c.256G>C (p.Gly86Arg)
c.*448G>C (n.*448G>C)
17g.4945959C>TCA397338270PFN1c.364G>A (p.Gly122Ser)
c.256G>A (p.Gly86Ser)
c.*448G>A (n.*448G>A)
17g.4945960A>CCA497546898PFN1c.363T>G (p.Gly121=)
c.255T>G (p.Gly85=)
c.*447T>G (n.*447T>G)
17g.4945960A>GCA497546899PFN1c.363T>C (p.Gly121=)
c.255T>C (p.Gly85=)
c.*447T>C (n.*447T>C)
 gnomAD v4
17g.4945960A>TCA497546900PFN1c.363T>A (p.Gly121=)
c.255T>A (p.Gly85=)
c.*447T>A (n.*447T>A)
17g.4945961C>ACA397338275PFN1c.362G>T (p.Gly121Val)
c.254G>T (p.Gly85Val)
c.*446G>T (n.*446G>T)
17g.4945961C>GCA397338277PFN1c.362G>C (p.Gly121Ala)
c.254G>C (p.Gly85Ala)
c.*446G>C (n.*446G>C)
17g.4945961C>TCA397338279PFN1c.362G>A (p.Gly121Asp)
c.254G>A (p.Gly85Asp)
c.*446G>A (n.*446G>A)
17g.4945962C>ACA397338282PFN1c.361G>T (p.Gly121Cys)
c.253G>T (p.Gly85Cys)
c.*445G>T (n.*445G>T)
17g.4945962C>GCA397338283PFN1c.361G>C (p.Gly121Arg)
c.253G>C (p.Gly85Arg)
c.*445G>C (n.*445G>C)
17g.4945962C>TCA397338284PFN1c.361G>A (p.Gly121Ser)
c.253G>A (p.Gly85Ser)
c.*445G>A (n.*445G>A)
17g.4945963G>ACA8315896PFN1c.360C>T (p.His120=)
c.252C>T (p.His84=)
c.*444C>T (n.*444C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945963G>CCA397338286PFN1c.360C>G (p.His120Gln)
c.252C>G (p.His84Gln)
c.*444C>G (n.*444C>G)
17g.4945963G=CA2244642546PFN1c.360C= (p.His120=)
c.252C= (p.His84=)
c.*444C= (n.*444C=)
17g.4945963G>TCA397338288PFN1c.360C>A (p.His120Gln)
c.252C>A (p.His84Gln)
c.*444C>A (n.*444C>A)
17g.4945964T>ACA397338290PFN1c.359A>T (p.His120Leu)
c.251A>T (p.His84Leu)
c.*443A>T (n.*443A>T)
17g.4945964T>CCA397338292PFN1c.359A>G (p.His120Arg)
c.251A>G (p.His84Arg)
c.*443A>G (n.*443A>G)
17g.4945964T>GCA397338294PFN1c.359A>C (p.His120Pro)
c.251A>C (p.His84Pro)
c.*443A>C (n.*443A>C)
17g.4945965G>ACA397338298PFN1c.358C>T (p.His120Tyr)
c.250C>T (p.His84Tyr)
c.*442C>T (n.*442C>T)
17g.4945965G>CCA397338297PFN1c.358C>G (p.His120Asp)
c.250C>G (p.His84Asp)
c.*442C>G (n.*442C>G)
17g.4945965G>TCA397338296PFN1c.358C>A (p.His120Asn)
c.250C>A (p.His84Asn)
c.*442C>A (n.*442C>A)
17g.4945966G>ACA497546901PFN1c.357C>T (p.Val119=)
c.249C>T (p.Val83=)
c.*441C>T (n.*441C>T)
17g.4945966G>CCA497546902PFN1c.357C>G (p.Val119=)
c.249C>G (p.Val83=)
c.*441C>G (n.*441C>G)
17g.4945966G>TCA497546903PFN1c.357C>A (p.Val119=)
c.249C>A (p.Val83=)
c.*441C>A (n.*441C>A)
 gnomAD v4
17g.4945967A>CCA397338301PFN1c.356T>G (p.Val119Gly)
c.248T>G (p.Val83Gly)
c.*440T>G (n.*440T>G)
17g.4945967A>GCA397338303PFN1c.356T>C (p.Val119Ala)
c.248T>C (p.Val83Ala)
c.*440T>C (n.*440T>C)
17g.4945967A>TCA397338305PFN1c.356T>A (p.Val119Asp)
c.248T>A (p.Val83Asp)
c.*440T>A (n.*440T>A)
17g.4945968C>ACA397338307PFN1c.355G>T (p.Val119Phe)
c.247G>T (p.Val83Phe)
c.*439G>T (n.*439G>T)
17g.4945968C>GCA397338310PFN1c.355G>C (p.Val119Leu)
c.247G>C (p.Val83Leu)
c.*439G>C (n.*439G>C)
17g.4945968C>TCA397338312PFN1c.355G>A (p.Val119Ile)
c.247G>A (p.Val83Ile)
c.*439G>A (n.*439G>A)
17g.4945969A=CA2244642551PFN1c.354T= (p.Gly118=)
c.246T= (p.Gly82=)
c.*438T= (n.*438T=)
17g.4945969A>CCA497546904PFN1c.354T>G (p.Gly118=)
c.246T>G (p.Gly82=)
c.*438T>G (n.*438T>G)
 dbSNP
17g.4945969A>GCA497546905PFN1c.354T>C (p.Gly118=)
c.246T>C (p.Gly82=)
c.*438T>C (n.*438T>C)
 dbSNP
17g.4945969A>TCA497546906PFN1c.354T>A (p.Gly118=)
c.246T>A (p.Gly82=)
c.*438T>A (n.*438T>A)
17g.4945970C>ACA260577PFN1c.353G>T (p.Gly118Val)
c.245G>T (p.Gly82Val)
c.*437G>T (n.*437G>T)
 ClinVar dbSNP
17g.4945970C=CA2244642565PFN1c.353G= (p.Gly118=)
c.245G= (p.Gly82=)
c.*437G= (n.*437G=)
17g.4945970C>GCA397338314PFN1c.353G>C (p.Gly118Ala)
c.245G>C (p.Gly82Ala)
c.*437G>C (n.*437G>C)
 gnomAD v4 COSMIC
17g.4945970C>TCA397338317PFN1c.353G>A (p.Gly118Asp)
c.245G>A (p.Gly82Asp)
c.*437G>A (n.*437G>A)
17g.4945970_4945973delinsCCTTCA2244642564PFN1c.350_353delinsAAGG (p.Glu117=)
c.242_245delinsAAGG (p.Glu81=)
c.*434_*437delinsAAGG (n.*434_*437delinsAAGG)
17g.4945971C>ACA397338320PFN1c.352G>T (p.Gly118Cys)
c.244G>T (p.Gly82Cys)
c.*436G>T (n.*436G>T)
 COSMIC
17g.4945971C=CA2244642572PFN1c.352G= (p.Gly118=)
c.244G= (p.Gly82=)
c.*436G= (n.*436G=)
17g.4945971C>GCA397338321PFN1c.352G>C (p.Gly118Arg)
c.244G>C (p.Gly82Arg)
c.*436G>C (n.*436G>C)
17g.4945971C>TCA397338323PFN1c.352G>A (p.Gly118Ser)
c.244G>A (p.Gly82Ser)
c.*436G>A (n.*436G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4945974_4945976delCA915949474PFN1c.350_352del (p.Glu117del)
c.242_244del (p.Glu81del)
c.*434_*436del (n.*434_*436del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4945972T>ACA8315897PFN1c.351A>T (p.Glu117Asp)
c.243A>T (p.Glu81Asp)
c.*435A>T (n.*435A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945972T>CCA497546907PFN1c.351A>G (p.Glu117=)
c.243A>G (p.Glu81=)
c.*435A>G (n.*435A>G)
17g.4945972T>GCA397338326PFN1c.351A>C (p.Glu117Asp)
c.243A>C (p.Glu81Asp)
c.*435A>C (n.*435A>C)
17g.4945972T=CA2244642584PFN1c.351A= (p.Glu117=)
c.243A= (p.Glu81=)
c.*435A= (n.*435A=)
17g.4945972_4945973delinsACCA915949475PFN1c.350_351delinsGT (p.Glu117Gly)
c.242_243delinsGT (p.Glu81Gly)
c.*434_*435delinsGT (n.*434_*435delinsGT)
 ClinVar dbSNP
17g.4945972_4945973delinsTTCA2244642587PFN1c.350_351delinsAA (p.Glu117=)
c.242_243delinsAA (p.Glu81=)
c.*434_*435delinsAA (n.*434_*435delinsAA)
17g.4945973T>ACA397338328PFN1c.350A>T (p.Glu117Val)
c.242A>T (p.Glu81Val)
c.*434A>T (n.*434A>T)
17g.4945973T>CCA260578PFN1c.350A>G (p.Glu117Gly)
c.242A>G (p.Glu81Gly)
c.*434A>G (n.*434A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945973T>GCA397338329PFN1c.350A>C (p.Glu117Ala)
c.242A>C (p.Glu81Ala)
c.*434A>C (n.*434A>C)
17g.4945973T=CA2244642592PFN1c.350A= (p.Glu117=)
c.242A= (p.Glu81=)
c.*434A= (n.*434A=)
17g.4945974C>ACA397338333PFN1c.349G>T (p.Glu117Ter)
c.241G>T (p.Glu81Ter)
c.*433G>T (n.*433G>T)
17g.4945974C>GCA397338335PFN1c.349G>C (p.Glu117Gln)
c.241G>C (p.Glu81Gln)
c.*433G>C (n.*433G>C)
 gnomAD v4 COSMIC
17g.4945974C>TCA397338336PFN1c.349G>A (p.Glu117Lys)
c.241G>A (p.Glu81Lys)
c.*433G>A (n.*433G>A)
17g.4945975T>ACA397338338PFN1c.348A>T (p.Lys116Asn)
c.240A>T (p.Lys80Asn)
c.*432A>T (n.*432A>T)
17g.4945975T>CCA497546908PFN1c.348A>G (p.Lys116=)
c.240A>G (p.Lys80=)
c.*432A>G (n.*432A>G)
17g.4945975T>GCA397338340PFN1c.348A>C (p.Lys116Asn)
c.240A>C (p.Lys80Asn)
c.*432A>C (n.*432A>C)
17g.4945976T>ACA397338342PFN1c.347A>T (p.Lys116Ile)
c.239A>T (p.Lys80Ile)
c.*431A>T (n.*431A>T)
 dbSNP gnomAD v4
17g.4945976T>CCA397338343PFN1c.347A>G (p.Lys116Arg)
c.239A>G (p.Lys80Arg)
c.*431A>G (n.*431A>G)
17g.4945976T>GCA397338345PFN1c.347A>C (p.Lys116Thr)
c.239A>C (p.Lys80Thr)
c.*431A>C (n.*431A>C)
17g.4945976T=CA2244642597PFN1c.347A= (p.Lys116=)
c.239A= (p.Lys80=)
c.*431A= (n.*431A=)
17g.4945977T>ACA397338347PFN1c.346A>T (p.Lys116Ter)
c.238A>T (p.Lys80Ter)
c.*430A>T (n.*430A>T)
17g.4945977T>CCA397338349PFN1c.346A>G (p.Lys116Glu)
c.238A>G (p.Lys80Glu)
c.*430A>G (n.*430A>G)
17g.4945977T>GCA397338350PFN1c.346A>C (p.Lys116Gln)
c.238A>C (p.Lys80Gln)
c.*430A>C (n.*430A>C)
17g.4945978G>ACA497546909PFN1c.345C>T (p.Gly115=)
c.237C>T (p.Gly79=)
c.*429C>T (n.*429C>T)
 ClinVar dbSNP gnomAD v4
17g.4945978G>CCA497546910PFN1c.345C>G (p.Gly115=)
c.237C>G (p.Gly79=)
c.*429C>G (n.*429C>G)
17g.4945978G=CA2244642603PFN1c.345C= (p.Gly115=)
c.237C= (p.Gly79=)
c.*429C= (n.*429C=)
17g.4945978G>TCA497546911PFN1c.345C>A (p.Gly115=)
c.237C>A (p.Gly79=)
c.*429C>A (n.*429C>A)
17g.4945979C>ACA397338352PFN1c.344G>T (p.Gly115Val)
c.236G>T (p.Gly79Val)
c.*428G>T (n.*428G>T)
17g.4945979C>GCA397338353PFN1c.344G>C (p.Gly115Ala)
c.236G>C (p.Gly79Ala)
c.*428G>C (n.*428G>C)
17g.4945979C>TCA397338351PFN1c.344G>A (p.Gly115Asp)
c.236G>A (p.Gly79Asp)
c.*428G>A (n.*428G>A)
 gnomAD v4
17g.4945980C>ACA397338358PFN1c.343G>T (p.Gly115Cys)
c.235G>T (p.Gly79Cys)
c.*427G>T (n.*427G>T)
 dbSNP
17g.4945980C>GCA397338356PFN1c.343G>C (p.Gly115Arg)
c.235G>C (p.Gly79Arg)
c.*427G>C (n.*427G>C)
17g.4945980C>TCA397338360PFN1c.343G>A (p.Gly115Ser)
c.235G>A (p.Gly79Ser)
c.*427G>A (n.*427G>A)
17g.4945981C>ACA397338362PFN1c.342G>T (p.Met114Ile)
c.234G>T (p.Met78Ile)
c.*426G>T (n.*426G>T)
17g.4945981C>GCA397338366PFN1c.342G>C (p.Met114Ile)
c.234G>C (p.Met78Ile)
c.*426G>C (n.*426G>C)
17g.4945981C>TCA397338364PFN1c.342G>A (p.Met114Ile)
c.234G>A (p.Met78Ile)
c.*426G>A (n.*426G>A)
17g.4945982A=CA2244642610PFN1c.341T= (p.Met114=)
c.233T= (p.Met78=)
c.*425T= (n.*425T=)
17g.4945982A>CCA16043532PFN1c.341T>G (p.Met114Arg)
c.233T>G (p.Met78Arg)
c.*425T>G (n.*425T>G)
 ClinVar dbSNP
17g.4945982A>GCA260576PFN1c.341T>C (p.Met114Thr)
c.233T>C (p.Met78Thr)
c.*425T>C (n.*425T>C)
 ClinVar dbSNP
17g.4945982A>TCA397338370PFN1c.341T>A (p.Met114Lys)
c.233T>A (p.Met78Lys)
c.*425T>A (n.*425T>A)
17g.4945983T>ACA397338372PFN1c.340A>T (p.Met114Leu)
c.232A>T (p.Met78Leu)
c.*424A>T (n.*424A>T)
17g.4945983T>CCA397338374PFN1c.340A>G (p.Met114Val)
c.232A>G (p.Met78Val)
c.*424A>G (n.*424A>G)
17g.4945983T>GCA397338375PFN1c.340A>C (p.Met114Leu)
c.232A>C (p.Met78Leu)
c.*424A>C (n.*424A>C)
17g.4945984C>ACA497546912PFN1c.339G>T (p.Leu113=)
c.231G>T (p.Leu77=)
c.*423G>T (n.*423G>T)
17g.4945984C>GCA497546913PFN1c.339G>C (p.Leu113=)
c.231G>C (p.Leu77=)
c.*423G>C (n.*423G>C)
17g.4945984C>TCA497546914PFN1c.339G>A (p.Leu113=)
c.231G>A (p.Leu77=)
c.*423G>A (n.*423G>A)
17g.4945985A>CCA397338378PFN1c.338T>G (p.Leu113Arg)
c.230T>G (p.Leu77Arg)
c.*422T>G (n.*422T>G)
17g.4945985A>GCA397338379PFN1c.338T>C (p.Leu113Pro)
c.230T>C (p.Leu77Pro)
c.*422T>C (n.*422T>C)
17g.4945985A>TCA397338381PFN1c.338T>A (p.Leu113Gln)
c.230T>A (p.Leu77Gln)
c.*422T>A (n.*422T>A)
17g.4945986G>ACA497546915PFN1c.337C>T (p.Leu113=)
c.229C>T (p.Leu77=)
c.*421C>T (n.*421C>T)
 gnomAD v4
17g.4945986G>CCA397338383PFN1c.337C>G (p.Leu113Val)
c.229C>G (p.Leu77Val)
c.*421C>G (n.*421C>G)
17g.4945986G>TCA397338384PFN1c.337C>A (p.Leu113Met)
c.229C>A (p.Leu77Met)
c.*421C>A (n.*421C>A)
17g.4945987C>ACA497546916PFN1c.336G>T (p.Leu112=)
c.228G>T (p.Leu76=)
c.*420G>T (n.*420G>T)
17g.4945987C=CA2244642618PFN1c.336G= (p.Leu112=)
c.228G= (p.Leu76=)
c.*420G= (n.*420G=)
17g.4945987C>GCA497546917PFN1c.336G>C (p.Leu112=)
c.228G>C (p.Leu76=)
c.*420G>C (n.*420G>C)
17g.4945987C>TCA497546918PFN1c.336G>A (p.Leu112=)
c.228G>A (p.Leu76=)
c.*420G>A (n.*420G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4945988A>CCA397338388PFN1c.335T>G (p.Leu112Arg)
c.227T>G (p.Leu76Arg)
c.*419T>G (n.*419T>G)
17g.4945988A>GCA397338387PFN1c.335T>C (p.Leu112Pro)
c.227T>C (p.Leu76Pro)
c.*419T>C (n.*419T>C)
17g.4945988A>TCA397338386PFN1c.335T>A (p.Leu112Gln)
c.227T>A (p.Leu76Gln)
c.*419T>A (n.*419T>A)
17g.4945989G>ACA8315898PFN1c.334C>T (p.Leu112=)
c.226C>T (p.Leu76=)
c.*418C>T (n.*418C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4945989G>CCA287230800PFN1c.334C>G (p.Leu112Val)
c.226C>G (p.Leu76Val)
c.*418C>G (n.*418C>G)
 dbSNP
17g.4945989G=CA2244642624PFN1c.334C= (p.Leu112=)
c.226C= (p.Leu76=)
c.*418C= (n.*418C=)
17g.4945989G>TCA287230803PFN1c.334C>A (p.Leu112Met)
c.226C>A (p.Leu76Met)
c.*418C>A (n.*418C>A)
 dbSNP

Number of alleles fetched