Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTACA2260697314G6PC1c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
17g.42910915_42911427delCA1139665564G6PC1c.563_*1del
c.447_*467del
c.486_*467del
 ClinVar dbSNP
17g.42911316T>ACA399657327G6PC1c.964T>A (p.Phe322Ile)
c.*356T>A (n.*356T>A)
17g.42911316T>CCA399657329G6PC1c.964T>C (p.Phe322Leu)
c.*356T>C (n.*356T>C)
 ClinVar
17g.42911316T>GCA399657340G6PC1c.964T>G (p.Phe322Val)
c.*356T>G (n.*356T>G)
 ClinVar dbSNP gnomAD v4
17g.42911316T=CA2260697486G6PC1c.964T= (p.Phe322=)
c.*356T= (n.*356T=)
17g.42911317delCA2695226087G6PC1c.965del (p.Phe322SerfsTer11)
c.*357del (n.*357del)
17g.42911317T>ACA324941G6PC1c.965T>A (p.Phe322Tyr)
c.*357T>A (n.*357T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911317T>CCA399657348G6PC1c.965T>C (p.Phe322Ser)
c.*357T>C (n.*357T>C)
17g.42911317T>GCA399657345G6PC1c.965T>G (p.Phe322Cys)
c.*357T>G (n.*357T>G)
17g.42911317T=CA2260697487G6PC1c.965T= (p.Phe322=)
c.*357T= (n.*357T=)
17g.42911318C>ACA399657352G6PC1c.966C>A (p.Phe322Leu)
c.*358C>A (n.*358C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42911318C=CA2260697488G6PC1c.966C= (p.Phe322=)
c.*358C= (n.*358C=)
17g.42911318C>GCA399657354G6PC1c.966C>G (p.Phe322Leu)
c.*358C>G (n.*358C>G)
17g.42911318C>TCA500229902G6PC1c.966C>T (p.Phe322=)
c.*358C>T (n.*358C>T)
 ClinVar dbSNP
17g.42911319T>ACA399657358G6PC1c.967T>A (p.Tyr323Asn)
c.*359T>A (n.*359T>A)
17g.42911319T>CCA399657361G6PC1c.967T>C (p.Tyr323His)
c.*359T>C (n.*359T>C)
17g.42911319T>GCA399657362G6PC1c.967T>G (p.Tyr323Asp)
c.*359T>G (n.*359T>G)
17g.42911320A>CCA399657365G6PC1c.968A>C (p.Tyr323Ser)
c.*360A>C (n.*360A>C)
17g.42911320A>GCA399657367G6PC1c.968A>G (p.Tyr323Cys)
c.*360A>G (n.*360A>G)
17g.42911320A>TCA399657369G6PC1c.968A>T (p.Tyr323Phe)
c.*360A>T (n.*360A>T)
17g.42911321C>ACA273945G6PC1c.969C>A (p.Tyr323Ter)
c.*361C>A (n.*361C>A)
 ClinVar dbSNP ExAC gnomAD v4
17g.42911321C=CA2260697489G6PC1c.969C= (p.Tyr323=)
c.*361C= (n.*361C=)
17g.42911321C>GCA399657374G6PC1c.969C>G (p.Tyr323Ter)
c.*361C>G (n.*361C>G)
17g.42911321C>TCA8587686G6PC1c.969C>T (p.Tyr323=)
c.*361C>T (n.*361C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911322G>ACA8587687G6PC1c.970G>A (p.Val324Ile)
c.*362G>A (n.*362G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911322G>CCA399657382G6PC1c.970G>C (p.Val324Leu)
c.*362G>C (n.*362G>C)
17g.42911322G=CA2260697490G6PC1c.970G= (p.Val324=)
c.*362G= (n.*362G=)
17g.42911322G>TCA399657379G6PC1c.970G>T (p.Val324Phe)
c.*362G>T (n.*362G>T)
17g.42911323T>ACA399657384G6PC1c.971T>A (p.Val324Asp)
c.*363T>A (n.*363T>A)
17g.42911323T>CCA399657386G6PC1c.971T>C (p.Val324Ala)
c.*363T>C (n.*363T>C)
17g.42911323T>GCA399657389G6PC1c.971T>G (p.Val324Gly)
c.*363T>G (n.*363T>G)
17g.42911324C>ACA500229419G6PC1c.972C>A (p.Val324=)
c.*364C>A (n.*364C>A)
 COSMIC
17g.42911324C>GCA500229420G6PC1c.972C>G (p.Val324=)
c.*364C>G (n.*364C>G)
17g.42911324C>TCA500229421G6PC1c.972C>T (p.Val324=)
c.*364C>T (n.*364C>T)
17g.42911325T>ACA399657392G6PC1c.973T>A (p.Leu325Met)
c.*365T>A (n.*365T>A)
17g.42911325T>CCA500229422G6PC1c.973T>C (p.Leu325=)
c.*365T>C (n.*365T>C)
17g.42911325T>GCA399657394G6PC1c.973T>G (p.Leu325Val)
c.*365T>G (n.*365T>G)
17g.42911326T>ACA399657396G6PC1c.974T>A (p.Leu325Ter)
c.*366T>A (n.*366T>A)
17g.42911326T>CCA8587688G6PC1c.974T>C (p.Leu325Ser)
c.*366T>C (n.*366T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911326T>GCA399657404G6PC1c.974T>G (p.Leu325Trp)
c.*366T>G (n.*366T>G)
17g.42911326T=CA2260697491G6PC1c.974T= (p.Leu325=)
c.*366T= (n.*366T=)
17g.42911327G>ACA500229423G6PC1c.975G>A (p.Leu325=)
c.*367G>A (n.*367G>A)
17g.42911327G>CCA399657407G6PC1c.975G>C (p.Leu325Phe)
c.*367G>C (n.*367G>C)
17g.42911327G>TCA399657411G6PC1c.975G>T (p.Leu325Phe)
c.*367G>T (n.*367G>T)
17g.42911328T>ACA399657413G6PC1c.976T>A (p.Ser326Thr)
c.*368T>A (n.*368T>A)
17g.42911328T>CCA399657419G6PC1c.976T>C (p.Ser326Pro)
c.*368T>C (n.*368T>C)
17g.42911328T>GCA399657421G6PC1c.976T>G (p.Ser326Ala)
c.*368T>G (n.*368T>G)
17g.42911329C>ACA399657423G6PC1c.977C>A (p.Ser326Tyr)
c.*369C>A (n.*369C>A)
17g.42911329C=CA2260697493G6PC1c.977C= (p.Ser326=)
c.*369C= (n.*369C=)
17g.42911329C>GCA8587689G6PC1c.977C>G (p.Ser326Cys)
c.*369C>G (n.*369C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911329C>TCA399657425G6PC1c.977C>T (p.Ser326Phe)
c.*369C>T (n.*369C>T)
 gnomAD v4
17g.42911329_42911332delinsCCTTCA2260697492G6PC1c.977_980delinsCCTT (p.Ser326=)
c.*369_*372delinsCCTT (n.*369_*372delinsCCTT)
17g.42911330C>ACA500229424G6PC1c.978C>A (p.Ser326=)
c.*370C>A (n.*370C>A)
17g.42911330C>GCA500229425G6PC1c.978C>G (p.Ser326=)
c.*370C>G (n.*370C>G)
17g.42911330C>TCA500229426G6PC1c.978C>T (p.Ser326=)
c.*370C>T (n.*370C>T)
17g.42911332_42911334delCA341570G6PC1c.980_982del (p.Phe327del)
c.*372_*374del (n.*372_*374del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911331T>ACA399657437G6PC1c.979T>A (p.Phe327Ile)
c.*371T>A (n.*371T>A)
17g.42911331T>CCA399657439G6PC1c.979T>C (p.Phe327Leu)
c.*371T>C (n.*371T>C)
17g.42911331T>GCA399657440G6PC1c.979T>G (p.Phe327Val)
c.*371T>G (n.*371T>G)
17g.42911331_42911332delCA2695226088G6PC1c.979_980del (p.Phe327LeufsTer?)
c.*371_*372del (n.*371_*372del)
17g.42911332dupCA2809535966G6PC1c.980dup (p.Cys328LeufsTer?)
c.*372dup (n.*372dup)
17g.42911332T>ACA399657442G6PC1c.980T>A (p.Phe327Tyr)
c.*372T>A (n.*372T>A)
17g.42911332T>CCA399657443G6PC1c.980T>C (p.Phe327Ser)
c.*372T>C (n.*372T>C)
17g.42911332T>GCA399657445G6PC1c.980T>G (p.Phe327Cys)
c.*372T>G (n.*372T>G)
17g.42911333C>ACA399657448G6PC1c.981C>A (p.Phe327Leu)
c.*373C>A (n.*373C>A)
17g.42911333C>GCA399657450G6PC1c.981C>G (p.Phe327Leu)
c.*373C>G (n.*373C>G)
17g.42911333C>TCA500229427G6PC1c.981C>T (p.Phe327=)
c.*373C>T (n.*373C>T)
 gnomAD v4 COSMIC
17g.42911334T>ACA399657457G6PC1c.982T>A (p.Cys328Ser)
c.*374T>A (n.*374T>A)
17g.42911334T>CCA399657454G6PC1c.982T>C (p.Cys328Arg)
c.*374T>C (n.*374T>C)
17g.42911334T>GCA399657453G6PC1c.982T>G (p.Cys328Gly)
c.*374T>G (n.*374T>G)
17g.42911335G>ACA399657462G6PC1c.983G>A (p.Cys328Tyr)
c.*375G>A (n.*375G>A)
 gnomAD v4
17g.42911335G>CCA399657461G6PC1c.983G>C (p.Cys328Ser)
c.*375G>C (n.*375G>C)
17g.42911335G>TCA399657464G6PC1c.983G>T (p.Cys328Phe)
c.*375G>T (n.*375G>T)
17g.42911336C>ACA399657466G6PC1c.984C>A (p.Cys328Ter)
c.*376C>A (n.*376C>A)
 gnomAD v4
17g.42911336C>GCA399657467G6PC1c.984C>G (p.Cys328Trp)
c.*376C>G (n.*376C>G)
 gnomAD v4
17g.42911336C>TCA500229428G6PC1c.984C>T (p.Cys328=)
c.*376C>T (n.*376C>T)
17g.42911337A>CCA399657470G6PC1c.985A>C (p.Lys329Gln)
c.*377A>C (n.*377A>C)
17g.42911337A>GCA399657471G6PC1c.985A>G (p.Lys329Glu)
c.*377A>G (n.*377A>G)
17g.42911337A>TCA399657473G6PC1c.985A>T (p.Lys329Ter)
c.*377A>T (n.*377A>T)
17g.42911338A>CCA399657476G6PC1c.986A>C (p.Lys329Thr)
c.*378A>C (n.*378A>C)
17g.42911338A>GCA399657479G6PC1c.986A>G (p.Lys329Arg)
c.*378A>G (n.*378A>G)
17g.42911338A>TCA399657480G6PC1c.986A>T (p.Lys329Met)
c.*378A>T (n.*378A>T)
17g.42911339G>ACA500229429G6PC1c.987G>A (p.Lys329=)
c.*379G>A (n.*379G>A)
17g.42911339G>CCA399657483G6PC1c.987G>C (p.Lys329Asn)
c.*379G>C (n.*379G>C)
17g.42911339G>TCA399657486G6PC1c.987G>T (p.Lys329Asn)
c.*379G>T (n.*379G>T)
17g.42911340A>CCA399657487G6PC1c.988A>C (p.Ser330Arg)
c.*380A>C (n.*380A>C)
17g.42911340A>GCA399657488G6PC1c.988A>G (p.Ser330Gly)
c.*380A>G (n.*380A>G)
17g.42911340A>TCA399657489G6PC1c.988A>T (p.Ser330Cys)
c.*380A>T (n.*380A>T)
17g.42911341G>ACA399657490G6PC1c.989G>A (p.Ser330Asn)
c.*381G>A (n.*381G>A)
 gnomAD v4
17g.42911341G>CCA399657492G6PC1c.989G>C (p.Ser330Thr)
c.*381G>C (n.*381G>C)
17g.42911341G>TCA399657491G6PC1c.989G>T (p.Ser330Ile)
c.*381G>T (n.*381G>T)
17g.42911342T>ACA399657493G6PC1c.990T>A (p.Ser330Arg)
c.*382T>A (n.*382T>A)
17g.42911342T>CCA8587690G6PC1c.990T>C (p.Ser330=)
c.*382T>C (n.*382T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911342T>GCA399657494G6PC1c.990T>G (p.Ser330Arg)
c.*382T>G (n.*382T>G)
 ClinVar dbSNP
17g.42911342T=CA2260697494G6PC1c.990T= (p.Ser330=)
c.*382T= (n.*382T=)
17g.42911343G>ACA399657495G6PC1c.991G>A (p.Ala331Thr)
c.*383G>A (n.*383G>A)
 gnomAD v4
17g.42911343G>CCA399657496G6PC1c.991G>C (p.Ala331Pro)
c.*383G>C (n.*383G>C)
17g.42911343G>TCA399657498G6PC1c.991G>T (p.Ala331Ser)
c.*383G>T (n.*383G>T)
17g.42911344C>ACA399657501G6PC1c.992C>A (p.Ala331Glu)
c.*384C>A (n.*384C>A)
17g.42911344C=CA2260697495G6PC1c.992C= (p.Ala331=)
c.*384C= (n.*384C=)
17g.42911344C>GCA399657503G6PC1c.992C>G (p.Ala331Gly)
c.*384C>G (n.*384C>G)
 gnomAD v4
17g.42911344C>TCA8587691G6PC1c.992C>T (p.Ala331Val)
c.*384C>T (n.*384C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911345G>ACA8587692G6PC1c.993G>A (p.Ala331=)
c.*385G>A (n.*385G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911345G>CCA8587693G6PC1c.993G>C (p.Ala331=)
c.*385G>C (n.*385G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911345G=CA2260697496G6PC1c.993G= (p.Ala331=)
c.*385G= (n.*385G=)
17g.42911345G>TCA500229432G6PC1c.993G>T (p.Ala331=)
c.*385G>T (n.*385G>T)
17g.42911346G>ACA399657518G6PC1c.994G>A (p.Val332Ile)
c.*386G>A (n.*386G>A)
17g.42911346G>CCA399657516G6PC1c.994G>C (p.Val332Leu)
c.*386G>C (n.*386G>C)
17g.42911346G>TCA399657514G6PC1c.994G>T (p.Val332Leu)
c.*386G>T (n.*386G>T)
17g.42911347T>ACA399657524G6PC1c.995T>A (p.Val332Glu)
c.*387T>A (n.*387T>A)
17g.42911347T>CCA399657519G6PC1c.995T>C (p.Val332Ala)
c.*387T>C (n.*387T>C)
17g.42911347T>GCA399657522G6PC1c.995T>G (p.Val332Gly)
c.*387T>G (n.*387T>G)
17g.42911348A>CCA500229435G6PC1c.996A>C (p.Val332=)
c.*388A>C (n.*388A>C)
17g.42911348A>GCA500229436G6PC1c.996A>G (p.Val332=)
c.*388A>G (n.*388A>G)
17g.42911348A>TCA500229437G6PC1c.996A>T (p.Val332=)
c.*388A>T (n.*388A>T)
17g.42911349G>ACA399657526G6PC1c.997G>A (p.Val333Met)
c.*389G>A (n.*389G>A)
17g.42911349G>CCA399657527G6PC1c.997G>C (p.Val333Leu)
c.*389G>C (n.*389G>C)
17g.42911349G>TCA399657531G6PC1c.997G>T (p.Val333Leu)
c.*389G>T (n.*389G>T)
17g.42911350T>ACA399657533G6PC1c.998T>A (p.Val333Glu)
c.*390T>A (n.*390T>A)
17g.42911350T>CCA399657535G6PC1c.998T>C (p.Val333Ala)
c.*390T>C (n.*390T>C)
17g.42911350T>GCA399657538G6PC1c.998T>G (p.Val333Gly)
c.*390T>G (n.*390T>G)
17g.42911351G>ACA500229440G6PC1c.999G>A (p.Val333=)
c.*391G>A (n.*391G>A)
 ClinVar dbSNP
17g.42911351G>CCA500229442G6PC1c.999G>C (p.Val333=)
c.*391G>C (n.*391G>C)
17g.42911351G>TCA500229441G6PC1c.999G>T (p.Val333=)
c.*391G>T (n.*391G>T)
17g.42911352C>ACA399657541G6PC1c.1000C>A (p.Pro334Thr)
c.*392C>A (n.*392C>A)
17g.42911352C=CA2260697497G6PC1c.1000C= (p.Pro334=)
c.*392C= (n.*392C=)
17g.42911352C>GCA399657543G6PC1c.1000C>G (p.Pro334Ala)
c.*392C>G (n.*392C>G)
17g.42911352C>TCA8587694G6PC1c.1000C>T (p.Pro334Ser)
c.*392C>T (n.*392C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911353C>ACA399657547G6PC1c.1001C>A (p.Pro334His)
c.*393C>A (n.*393C>A)
17g.42911353C=CA2260697498G6PC1c.1001C= (p.Pro334=)
c.*393C= (n.*393C=)
17g.42911353C>GCA399657549G6PC1c.1001C>G (p.Pro334Arg)
c.*393C>G (n.*393C>G)
17g.42911353C>TCA399657551G6PC1c.1001C>T (p.Pro334Leu)
c.*393C>T (n.*393C>T)
 dbSNP gnomAD v2
17g.42911354C>ACA500229444G6PC1c.1002C>A (p.Pro334=)
c.*394C>A (n.*394C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.42911354C=CA2260697499G6PC1c.1002C= (p.Pro334=)
c.*394C= (n.*394C=)
17g.42911354C>GCA500229443G6PC1c.1002C>G (p.Pro334=)
c.*394C>G (n.*394C>G)
17g.42911354C>TCA8587695G6PC1c.1002C>T (p.Pro334=)
c.*394C>T (n.*394C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911355C>ACA399657556G6PC1c.1003C>A (p.Leu335Met)
c.*395C>A (n.*395C>A)
17g.42911355C=CA2260697500G6PC1c.1003C= (p.Leu335=)
c.*395C= (n.*395C=)
17g.42911355C>GCA399657558G6PC1c.1003C>G (p.Leu335Val)
c.*395C>G (n.*395C>G)
17g.42911355C>TCA500229445G6PC1c.1003C>T (p.Leu335=)
c.*395C>T (n.*395C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42911356delCA2638041653G6PC1c.1004del (p.Leu335ArgfsTer?)
c.*396del (n.*396del)
 ClinVar gnomAD v4
17g.42911356T>ACA399657560G6PC1c.1004T>A (p.Leu335Gln)
c.*396T>A (n.*396T>A)
17g.42911356T>CCA8587696G6PC1c.1004T>C (p.Leu335Pro)
c.*396T>C (n.*396T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911356T>GCA399657564G6PC1c.1004T>G (p.Leu335Arg)
c.*396T>G (n.*396T>G)
17g.42911356T=CA2260697501G6PC1c.1004T= (p.Leu335=)
c.*396T= (n.*396T=)
17g.42911357G>ACA500229447G6PC1c.1005G>A (p.Leu335=)
c.*397G>A (n.*397G>A)
 ClinVar
17g.42911357G>CCA500229448G6PC1c.1005G>C (p.Leu335=)
c.*397G>C (n.*397G>C)
17g.42911357G>TCA500229449G6PC1c.1005G>T (p.Leu335=)
c.*397G>T (n.*397G>T)
17g.42911358G>ACA399657566G6PC1c.1006G>A (p.Ala336Thr)
c.*398G>A (n.*398G>A)
17g.42911358G>CCA399657568G6PC1c.1006G>C (p.Ala336Pro)
c.*398G>C (n.*398G>C)
17g.42911358G>TCA399657570G6PC1c.1006G>T (p.Ala336Ser)
c.*398G>T (n.*398G>T)
17g.42911359C>ACA399657572G6PC1c.1007C>A (p.Ala336Glu)
c.*399C>A (n.*399C>A)
 ClinVar dbSNP
17g.42911359C=CA2260697502G6PC1c.1007C= (p.Ala336=)
c.*399C= (n.*399C=)
17g.42911359C>GCA399657573G6PC1c.1007C>G (p.Ala336Gly)
c.*399C>G (n.*399C>G)
17g.42911359C>TCA399657576G6PC1c.1007C>T (p.Ala336Val)
c.*399C>T (n.*399C>T)
 gnomAD v4
17g.42911360A>CCA500229451G6PC1c.1008A>C (p.Ala336=)
c.*400A>C (n.*400A>C)
17g.42911360A>GCA500229452G6PC1c.1008A>G (p.Ala336=)
c.*400A>G (n.*400A>G)
 ClinVar
17g.42911360A>TCA500229453G6PC1c.1008A>T (p.Ala336=)
c.*400A>T (n.*400A>T)
17g.42911361T>ACA399657579G6PC1c.1009T>A (p.Ser337Thr)
c.*401T>A (n.*401T>A)
17g.42911361T>CCA399657582G6PC1c.1009T>C (p.Ser337Pro)
c.*401T>C (n.*401T>C)
17g.42911361T>GCA399657583G6PC1c.1009T>G (p.Ser337Ala)
c.*401T>G (n.*401T>G)
17g.42911362C>ACA399657587G6PC1c.1010C>A (p.Ser337Tyr)
c.*402C>A (n.*402C>A)
17g.42911362C>GCA399657588G6PC1c.1010C>G (p.Ser337Cys)
c.*402C>G (n.*402C>G)
17g.42911362C>TCA399657586G6PC1c.1010C>T (p.Ser337Phe)
c.*402C>T (n.*402C>T)
17g.42911363C>ACA500229457G6PC1c.1011C>A (p.Ser337=)
c.*403C>A (n.*403C>A)
 gnomAD v4
17g.42911363C=CA2260697503G6PC1c.1011C= (p.Ser337=)
c.*403C= (n.*403C=)
17g.42911363C>GCA500229458G6PC1c.1011C>G (p.Ser337=)
c.*403C>G (n.*403C>G)
17g.42911363C>TCA8587697G6PC1c.1011C>T (p.Ser337=)
c.*403C>T (n.*403C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911364G>ACA8587698G6PC1c.1012G>A (p.Val338Ile)
c.*404G>A (n.*404G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911364G>CCA399657591G6PC1c.1012G>C (p.Val338Leu)
c.*404G>C (n.*404G>C)
17g.42911364G=CA2260697504G6PC1c.1012G= (p.Val338=)
c.*404G= (n.*404G=)
17g.42911364G>TCA274168G6PC1c.1012G>T (p.Val338Phe)
c.*404G>T (n.*404G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911365T>ACA399657596G6PC1c.1013T>A (p.Val338Asp)
c.*405T>A (n.*405T>A)
17g.42911365T>CCA399657597G6PC1c.1013T>C (p.Val338Ala)
c.*405T>C (n.*405T>C)
17g.42911365T>GCA399657600G6PC1c.1013T>G (p.Val338Gly)
c.*405T>G (n.*405T>G)
17g.42911366C>ACA500229462G6PC1c.1014C>A (p.Val338=)
c.*406C>A (n.*406C>A)
17g.42911366C>GCA500229460G6PC1c.1014C>G (p.Val338=)
c.*406C>G (n.*406C>G)
17g.42911366C>TCA500229461G6PC1c.1014C>T (p.Val338=)
c.*406C>T (n.*406C>T)
 ClinVar dbSNP
17g.42911367A>CCA399657602G6PC1c.1015A>C (p.Ser339Arg)
c.*407A>C (n.*407A>C)
17g.42911367A>GCA399657603G6PC1c.1015A>G (p.Ser339Gly)
c.*407A>G (n.*407A>G)
17g.42911367A>TCA399657605G6PC1c.1015A>T (p.Ser339Cys)
c.*407A>T (n.*407A>T)
17g.42911368G>ACA399657607G6PC1c.1016G>A (p.Ser339Asn)
c.*408G>A (n.*408G>A)
 gnomAD v4
17g.42911368G>CCA399657611G6PC1c.1016G>C (p.Ser339Thr)
c.*408G>C (n.*408G>C)
 dbSNP
17g.42911368G=CA2260697505G6PC1c.1016G= (p.Ser339=)
c.*408G= (n.*408G=)
17g.42911368G>TCA399657612G6PC1c.1016G>T (p.Ser339Ile)
c.*408G>T (n.*408G>T)
17g.42911369T>ACA399657616G6PC1c.1017T>A (p.Ser339Arg)
c.*409T>A (n.*409T>A)
17g.42911369T>CCA500229467G6PC1c.1017T>C (p.Ser339=)
c.*409T>C (n.*409T>C)
 dbSNP
17g.42911369T>GCA399657619G6PC1c.1017T>G (p.Ser339Arg)
c.*409T>G (n.*409T>G)
17g.42911369T=CA2260697509G6PC1c.1017T= (p.Ser339=)
c.*409T= (n.*409T=)
17g.42911369_42911372delinsTGTCCA2260697506G6PC1c.1017_1020delinsTGTC (p.Ser339=)
c.*409_*412delinsTGTC (n.*409_*412delinsTGTC)
17g.42911369_42911378delinsTGTCATCCCCCA2260697507G6PC1c.1017_1026delinsTGTCATCCCC (p.Ser339=)
c.*409_*418delinsTGTCATCCCC (n.*409_*418delinsTGTCATCCCC)
17g.42911369_42911379delinsTGTCATCCCCTCA2260697508G6PC1c.1017_1027delinsTGTCATCCCCT (p.Ser339=)
c.*409_*419delinsTGTCATCCCCT (n.*409_*419delinsTGTCATCCCCT)
17g.42911370G>ACA399657624G6PC1c.1018G>A (p.Val340Ile)
c.*410G>A (n.*410G>A)
 gnomAD v4
17g.42911370G>CCA399657634G6PC1c.1018G>C (p.Val340Leu)
c.*410G>C (n.*410G>C)
17g.42911370G>TCA399657630G6PC1c.1018G>T (p.Val340Phe)
c.*410G>T (n.*410G>T)
17g.42911370_42911372delCA8587699G6PC1c.1018_1020del (p.Val340del)
c.*410_*412del (n.*410_*412del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911370_42911378delCA772150990G6PC1c.1018_1026del (p.Val340_Pro342del)
c.*410_*418del (n.*410_*418del)
 ClinVar dbSNP
17g.42911370_42911379delinsACA658658619G6PC1c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)
c.*410_*419delinsA (n.*410_*419delinsA)
 ClinVar dbSNP
17g.42911371T>ACA399657637G6PC1c.1019T>A (p.Val340Asp)
c.*411T>A (n.*411T>A)
17g.42911371T>CCA399657639G6PC1c.1019T>C (p.Val340Ala)
c.*411T>C (n.*411T>C)
17g.42911371T>GCA399657642G6PC1c.1019T>G (p.Val340Gly)
c.*411T>G (n.*411T>G)
17g.42911372C>ACA500229470G6PC1c.1020C>A (p.Val340=)
c.*412C>A (n.*412C>A)
 gnomAD v4
17g.42911372C>GCA500229472G6PC1c.1020C>G (p.Val340=)
c.*412C>G (n.*412C>G)
17g.42911372C>TCA500229471G6PC1c.1020C>T (p.Val340=)
c.*412C>T (n.*412C>T)
 ClinVar gnomAD v4 COSMIC
17g.42911373A>CCA399657645G6PC1c.1021A>C (p.Ile341Leu)
c.*413A>C (n.*413A>C)
17g.42911373A>GCA399657649G6PC1c.1021A>G (p.Ile341Val)
c.*413A>G (n.*413A>G)
17g.42911373A>TCA399657661G6PC1c.1021A>T (p.Ile341Phe)
c.*413A>T (n.*413A>T)
17g.42911373_42911379delinsATCCCCTCA2260697510G6PC1c.1021_1027delinsATCCCCT (p.Ile341=)
c.*413_*419delinsATCCCCT (n.*413_*419delinsATCCCCT)
17g.42911374T>ACA256191G6PC1c.1022T>A (p.Ile341Asn)
c.*414T>A (n.*414T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911374T>CCA399657667G6PC1c.1022T>C (p.Ile341Thr)
c.*414T>C (n.*414T>C)
 dbSNP
17g.42911374T>GCA399657668G6PC1c.1022T>G (p.Ile341Ser)
c.*414T>G (n.*414T>G)
17g.42911374T=CA2260697511G6PC1c.1022T= (p.Ile341=)
c.*414T= (n.*414T=)
17g.42911374_42911379delCA8587700G6PC1c.1022_1027del (p.Ile341_Tyr343delinsAsn)
c.*414_*419del (n.*414_*419del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911375C>ACA500229477G6PC1c.1023C>A (p.Ile341=)
c.*415C>A (n.*415C>A)
 ClinVar dbSNP
17g.42911375C=CA2260697512G6PC1c.1023C= (p.Ile341=)
c.*415C= (n.*415C=)
17g.42911375C>GCA399657671G6PC1c.1023C>G (p.Ile341Met)
c.*415C>G (n.*415C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.42911375C>TCA500229478G6PC1c.1023C>T (p.Ile341=)
c.*415C>T (n.*415C>T)
 ClinVar COSMIC
17g.42911376C>ACA399657680G6PC1c.1024C>A (p.Pro342Thr)
c.*416C>A (n.*416C>A)
17g.42911376C>GCA399657676G6PC1c.1024C>G (p.Pro342Ala)
c.*416C>G (n.*416C>G)
17g.42911376C>TCA399657678G6PC1c.1024C>T (p.Pro342Ser)
c.*416C>T (n.*416C>T)
 gnomAD v4
17g.42911377C>ACA399657685G6PC1c.1025C>A (p.Pro342His)
c.*417C>A (n.*417C>A)
17g.42911377C>GCA399657687G6PC1c.1025C>G (p.Pro342Arg)
c.*417C>G (n.*417C>G)
17g.42911377C>TCA399657689G6PC1c.1025C>T (p.Pro342Leu)
c.*417C>T (n.*417C>T)
17g.42911378C>ACA500229483G6PC1c.1026C>A (p.Pro342=)
c.*418C>A (n.*418C>A)
17g.42911378C=CA2260697513G6PC1c.1026C= (p.Pro342=)
c.*418C= (n.*418C=)
17g.42911378C>GCA500229485G6PC1c.1026C>G (p.Pro342=)
c.*418C>G (n.*418C>G)
17g.42911378C>TCA500229486G6PC1c.1026C>T (p.Pro342=)
c.*418C>T (n.*418C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42911379T>ACA399657693G6PC1c.1027T>A (p.Tyr343Asn)
c.*419T>A (n.*419T>A)
 dbSNP
17g.42911379T>CCA399657695G6PC1c.1027T>C (p.Tyr343His)
c.*419T>C (n.*419T>C)
17g.42911379T>GCA399657698G6PC1c.1027T>G (p.Tyr343Asp)
c.*419T>G (n.*419T>G)
17g.42911379T=CA2260697514G6PC1c.1027T= (p.Tyr343=)
c.*419T= (n.*419T=)
17g.42911380A>CCA399657701G6PC1c.1028A>C (p.Tyr343Ser)
c.*420A>C (n.*420A>C)
17g.42911380A>GCA399657702G6PC1c.1028A>G (p.Tyr343Cys)
c.*420A>G (n.*420A>G)
17g.42911380A>TCA399657703G6PC1c.1028A>T (p.Tyr343Phe)
c.*420A>T (n.*420A>T)
17g.42911381C>ACA399657704G6PC1c.1029C>A (p.Tyr343Ter)
c.*421C>A (n.*421C>A)
17g.42911381C=CA2260697515G6PC1c.1029C= (p.Tyr343=)
c.*421C= (n.*421C=)
17g.42911381C>GCA399657705G6PC1c.1029C>G (p.Tyr343Ter)
c.*421C>G (n.*421C>G)
17g.42911381C>TCA290790225G6PC1c.1029C>T (p.Tyr343=)
c.*421C>T (n.*421C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911382T>ACA399657713G6PC1c.1030T>A (p.Cys344Ser)
c.*422T>A (n.*422T>A)
17g.42911382T>CCA399657707G6PC1c.1030T>C (p.Cys344Arg)
c.*422T>C (n.*422T>C)
17g.42911382T>GCA399657710G6PC1c.1030T>G (p.Cys344Gly)
c.*422T>G (n.*422T>G)
17g.42911383G>ACA399657716G6PC1c.1031G>A (p.Cys344Tyr)
c.*423G>A (n.*423G>A)
 gnomAD v4 COSMIC
17g.42911383G>CCA399657719G6PC1c.1031G>C (p.Cys344Ser)
c.*423G>C (n.*423G>C)
17g.42911383G>TCA399657722G6PC1c.1031G>T (p.Cys344Phe)
c.*423G>T (n.*423G>T)
17g.42911384C>ACA399657725G6PC1c.1032C>A (p.Cys344Ter)
c.*424C>A (n.*424C>A)
17g.42911384C>GCA399657728G6PC1c.1032C>G (p.Cys344Trp)
c.*424C>G (n.*424C>G)
17g.42911384C>TCA500229491G6PC1c.1032C>T (p.Cys344=)
c.*424C>T (n.*424C>T)
17g.42911385C>ACA399657731G6PC1c.1033C>A (p.Leu345Ile)
c.*425C>A (n.*425C>A)
17g.42911385C>GCA399657733G6PC1c.1033C>G (p.Leu345Val)
c.*425C>G (n.*425C>G)
17g.42911385C>TCA399657736G6PC1c.1033C>T (p.Leu345Phe)
c.*425C>T (n.*425C>T)
17g.42911386T>ACA399657740G6PC1c.1034T>A (p.Leu345His)
c.*426T>A (n.*426T>A)
17g.42911386T>CCA399657742G6PC1c.1034T>C (p.Leu345Pro)
c.*426T>C (n.*426T>C)
17g.42911386T>GCA399657745G6PC1c.1034T>G (p.Leu345Arg)
c.*426T>G (n.*426T>G)
17g.42911386_42911387delinsGACA2695226089G6PC1c.1034_1035delinsGA (p.Leu345Arg)
c.*426_*427delinsGA (n.*426_*427delinsGA)
17g.42911387C>ACA500229495G6PC1c.1035C>A (p.Leu345=)
c.*427C>A (n.*427C>A)
 ClinVar
17g.42911387C=CA2260697516G6PC1c.1035C= (p.Leu345=)
c.*427C= (n.*427C=)
17g.42911387C>GCA500229496G6PC1c.1035C>G (p.Leu345=)
c.*427C>G (n.*427C>G)
17g.42911387C>TCA8587701G6PC1c.1035C>T (p.Leu345=)
c.*427C>T (n.*427C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911388G>ACA399657754G6PC1c.1036G>A (p.Ala346Thr)
c.*428G>A (n.*428G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911388G>CCA399657757G6PC1c.1036G>C (p.Ala346Pro)
c.*428G>C (n.*428G>C)
17g.42911388G=CA2260697517G6PC1c.1036G= (p.Ala346=)
c.*428G= (n.*428G=)
17g.42911388G>TCA399657750G6PC1c.1036G>T (p.Ala346Ser)
c.*428G>T (n.*428G>T)
17g.42911389C>ACA399657760G6PC1c.1037C>A (p.Ala346Asp)
c.*429C>A (n.*429C>A)
17g.42911389C>GCA399657765G6PC1c.1037C>G (p.Ala346Gly)
c.*429C>G (n.*429C>G)
17g.42911389C>TCA399657763G6PC1c.1037C>T (p.Ala346Val)
c.*429C>T (n.*429C>T)
 ClinVar
17g.42911390C>ACA500229500G6PC1c.1038C>A (p.Ala346=)
c.*430C>A (n.*430C>A)
17g.42911390C=CA2260697518G6PC1c.1038C= (p.Ala346=)
c.*430C= (n.*430C=)
17g.42911390C>GCA500229502G6PC1c.1038C>G (p.Ala346=)
c.*430C>G (n.*430C>G)
17g.42911390C>TCA8587702G6PC1c.1038C>T (p.Ala346=)
c.*430C>T (n.*430C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911391C>ACA399657774G6PC1c.1039C>A (p.Gln347Lys)
c.*431C>A (n.*431C>A)
17g.42911391C=CA2260697519G6PC1c.1039C= (p.Gln347=)
c.*431C= (n.*431C=)
17g.42911391C>GCA8587703G6PC1c.1039C>G (p.Gln347Glu)
c.*431C>G (n.*431C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911391C>TCA256179G6PC1c.1039C>T (p.Gln347Ter)
c.*431C>T (n.*431C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911392A=CA2260697520G6PC1c.1040A= (p.Gln347=)
c.*432A= (n.*432A=)
17g.42911392A>CCA399657780G6PC1c.1040A>C (p.Gln347Pro)
c.*432A>C (n.*432A>C)
17g.42911392A>GCA399657783G6PC1c.1040A>G (p.Gln347Arg)
c.*432A>G (n.*432A>G)
 dbSNP gnomAD v2
17g.42911392A>TCA399657786G6PC1c.1040A>T (p.Gln347Leu)
c.*432A>T (n.*432A>T)
17g.42911393G>ACA500229506G6PC1c.1041G>A (p.Gln347=)
c.*433G>A (n.*433G>A)
17g.42911393G>CCA399657789G6PC1c.1041G>C (p.Gln347His)
c.*433G>C (n.*433G>C)
17g.42911393G>TCA399657791G6PC1c.1041G>T (p.Gln347His)
c.*433G>T (n.*433G>T)
17g.42911394delCA2739267554G6PC1c.1042del (p.Val348SerfsTer19)
c.*434del (n.*434del)
 ClinVar
17g.42911394G>ACA399657793G6PC1c.1042G>A (p.Val348Ile)
c.*434G>A (n.*434G>A)
17g.42911394G>CCA399657794G6PC1c.1042G>C (p.Val348Leu)
c.*434G>C (n.*434G>C)
17g.42911394G>TCA399657796G6PC1c.1042G>T (p.Val348Phe)
c.*434G>T (n.*434G>T)
17g.42911395T>ACA399657800G6PC1c.1043T>A (p.Val348Asp)
c.*435T>A (n.*435T>A)
17g.42911395T>CCA399657804G6PC1c.1043T>C (p.Val348Ala)
c.*435T>C (n.*435T>C)
17g.42911395T>GCA399657814G6PC1c.1043T>G (p.Val348Gly)
c.*435T>G (n.*435T>G)
17g.42911396C>ACA500229513G6PC1c.1044C>A (p.Val348=)
c.*436C>A (n.*436C>A)
17g.42911396C=CA2260697521G6PC1c.1044C= (p.Val348=)
c.*436C= (n.*436C=)
17g.42911396C>GCA290790228G6PC1c.1044C>G (p.Val348=)
c.*436C>G (n.*436C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911396C>TCA500229512G6PC1c.1044C>T (p.Val348=)
c.*436C>T (n.*436C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911397C>ACA399657817G6PC1c.1045C>A (p.Leu349Met)
c.*437C>A (n.*437C>A)
17g.42911397C=CA2260697522G6PC1c.1045C= (p.Leu349=)
c.*437C= (n.*437C=)
17g.42911397C>GCA399657820G6PC1c.1045C>G (p.Leu349Val)
c.*437C>G (n.*437C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911397C>TCA500229514G6PC1c.1045C>T (p.Leu349=)
c.*437C>T (n.*437C>T)
17g.42911398T>ACA399657839G6PC1c.1046T>A (p.Leu349Gln)
c.*438T>A (n.*438T>A)
17g.42911398T>CCA399657823G6PC1c.1046T>C (p.Leu349Pro)
c.*438T>C (n.*438T>C)
17g.42911398T>GCA399657826G6PC1c.1046T>G (p.Leu349Arg)
c.*438T>G (n.*438T>G)
 dbSNP
17g.42911398T=CA2260697523G6PC1c.1046T= (p.Leu349=)
c.*438T= (n.*438T=)
17g.42911399G>ACA500229517G6PC1c.1047G>A (p.Leu349=)
c.*439G>A (n.*439G>A)
17g.42911399G>CCA500229519G6PC1c.1047G>C (p.Leu349=)
c.*439G>C (n.*439G>C)
17g.42911399G=CA2260697524G6PC1c.1047G= (p.Leu349=)
c.*439G= (n.*439G=)
17g.42911399G>TCA500229521G6PC1c.1047G>T (p.Leu349=)
c.*439G>T (n.*439G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911400G>ACA399657842G6PC1c.1048G>A (p.Gly350Ser)
c.*440G>A (n.*440G>A)
17g.42911400G>CCA399657845G6PC1c.1048G>C (p.Gly350Arg)
c.*440G>C (n.*440G>C)
17g.42911400G>TCA399657847G6PC1c.1048G>T (p.Gly350Cys)
c.*440G>T (n.*440G>T)
17g.42911401G>ACA399657850G6PC1c.1049G>A (p.Gly350Asp)
c.*441G>A (n.*441G>A)
17g.42911401G>CCA399657852G6PC1c.1049G>C (p.Gly350Ala)
c.*441G>C (n.*441G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42911401G=CA2260697525G6PC1c.1049G= (p.Gly350=)
c.*441G= (n.*441G=)
17g.42911401G>TCA399657854G6PC1c.1049G>T (p.Gly350Val)
c.*441G>T (n.*441G>T)
17g.42911402C>ACA500229524G6PC1c.1050C>A (p.Gly350=)
c.*442C>A (n.*442C>A)
 ClinVar dbSNP
17g.42911402C>GCA500229525G6PC1c.1050C>G (p.Gly350=)
c.*442C>G (n.*442C>G)
17g.42911402C>TCA500229526G6PC1c.1050C>T (p.Gly350=)
c.*442C>T (n.*442C>T)
17g.42911403C>ACA399657858G6PC1c.1051C>A (p.Gln351Lys)
c.*443C>A (n.*443C>A)
17g.42911403C=CA2260697526G6PC1c.1051C= (p.Gln351=)
c.*443C= (n.*443C=)
17g.42911403C>GCA399657870G6PC1c.1051C>G (p.Gln351Glu)
c.*443C>G (n.*443C>G)
17g.42911403C>TCA290790232G6PC1c.1051C>T (p.Gln351Ter)
c.*443C>T (n.*443C>T)
 ClinVar dbSNP gnomAD v4
17g.42911404A>CCA399657877G6PC1c.1052A>C (p.Gln351Pro)
c.*444A>C (n.*444A>C)
17g.42911404A>GCA399657883G6PC1c.1052A>G (p.Gln351Arg)
c.*444A>G (n.*444A>G)
17g.42911404A>TCA399657885G6PC1c.1052A>T (p.Gln351Leu)
c.*444A>T (n.*444A>T)
17g.42911405G>ACA500229530G6PC1c.1053G>A (p.Gln351=)
c.*445G>A (n.*445G>A)
 dbSNP
17g.42911405G>CCA399657890G6PC1c.1053G>C (p.Gln351His)
c.*445G>C (n.*445G>C)
17g.42911405G=CA2260697527G6PC1c.1053G= (p.Gln351=)
c.*445G= (n.*445G=)
17g.42911405G>TCA399657887G6PC1c.1053G>T (p.Gln351His)
c.*445G>T (n.*445G>T)
17g.42911406C>ACA399657895G6PC1c.1054C>A (p.Pro352Thr)
c.*446C>A (n.*446C>A)
17g.42911406C>GCA399657896G6PC1c.1054C>G (p.Pro352Ala)
c.*446C>G (n.*446C>G)
17g.42911406C>TCA399657897G6PC1c.1054C>T (p.Pro352Ser)
c.*446C>T (n.*446C>T)
17g.42911407C>ACA399657900G6PC1c.1055C>A (p.Pro352Gln)
c.*447C>A (n.*447C>A)
17g.42911407C=CA2260697528G6PC1c.1055C= (p.Pro352=)
c.*447C= (n.*447C=)
17g.42911407C>GCA399657904G6PC1c.1055C>G (p.Pro352Arg)
c.*447C>G (n.*447C>G)
17g.42911407C>TCA8587704G6PC1c.1055C>T (p.Pro352Leu)
c.*447C>T (n.*447C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911408G>ACA8587705G6PC1c.1056G>A (p.Pro352=)
c.*448G>A (n.*448G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911408G>CCA500229536G6PC1c.1056G>C (p.Pro352=)
c.*448G>C (n.*448G>C)
 ClinVar
17g.42911408G=CA2260697529G6PC1c.1056G= (p.Pro352=)
c.*448G= (n.*448G=)
17g.42911408G>TCA500229538G6PC1c.1056G>T (p.Pro352=)
c.*448G>T (n.*448G>T)
 ClinVar
17g.42911409C>ACA399657921G6PC1c.1057C>A (p.His353Asn)
c.*449C>A (n.*449C>A)
17g.42911409C>GCA399657913G6PC1c.1057C>G (p.His353Asp)
c.*449C>G (n.*449C>G)
17g.42911409C>TCA399657918G6PC1c.1057C>T (p.His353Tyr)
c.*449C>T (n.*449C>T)
17g.42911410A=CA2260697530G6PC1c.1058A= (p.His353=)
c.*450A= (n.*450A=)
17g.42911410A>CCA290790246G6PC1c.1058A>C (p.His353Pro)
c.*450A>C (n.*450A>C)
 dbSNP
17g.42911410A>GCA399657923G6PC1c.1058A>G (p.His353Arg)
c.*450A>G (n.*450A>G)
17g.42911410A>TCA399657924G6PC1c.1058A>T (p.His353Leu)
c.*450A>T (n.*450A>T)
17g.42911411C>ACA399657925G6PC1c.1059C>A (p.His353Gln)
c.*451C>A (n.*451C>A)
17g.42911411C=CA2260697531G6PC1c.1059C= (p.His353=)
c.*451C= (n.*451C=)
17g.42911411C>GCA8587706G6PC1c.1059C>G (p.His353Gln)
c.*451C>G (n.*451C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911411C>TCA500229548G6PC1c.1059C>T (p.His353=)
c.*451C>T (n.*451C>T)
17g.42911412A>CCA399657928G6PC1c.1060A>C (p.Lys354Gln)
c.*452A>C (n.*452A>C)
17g.42911412A>GCA399657932G6PC1c.1060A>G (p.Lys354Glu)
c.*452A>G (n.*452A>G)
17g.42911412A>TCA399657930G6PC1c.1060A>T (p.Lys354Ter)
c.*452A>T (n.*452A>T)
17g.42911413A=CA2260697532G6PC1c.1061A= (p.Lys354=)
c.*453A= (n.*453A=)
17g.42911413A>CCA399657933G6PC1c.1061A>C (p.Lys354Thr)
c.*453A>C (n.*453A>C)
17g.42911413A>GCA399657935G6PC1c.1061A>G (p.Lys354Arg)
c.*453A>G (n.*453A>G)
 dbSNP gnomAD v4
17g.42911413A>TCA399657937G6PC1c.1061A>T (p.Lys354Met)
c.*453A>T (n.*453A>T)
17g.42911414G>ACA500229551G6PC1c.1062G>A (p.Lys354=)
c.*454G>A (n.*454G>A)
 COSMIC
17g.42911414G>CCA399657938G6PC1c.1062G>C (p.Lys354Asn)
c.*454G>C (n.*454G>C)
17g.42911414G>TCA399657939G6PC1c.1062G>T (p.Lys354Asn)
c.*454G>T (n.*454G>T)
 COSMIC
17g.42911415A=CA2260697533G6PC1c.1063A= (p.Lys355=)
c.*455A= (n.*455A=)
17g.42911415A>CCA399657940G6PC1c.1063A>C (p.Lys355Gln)
c.*455A>C (n.*455A>C)
17g.42911415A>GCA8587707G6PC1c.1063A>G (p.Lys355Glu)
c.*455A>G (n.*455A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911415A>TCA399657942G6PC1c.1063A>T (p.Lys355Ter)
c.*455A>T (n.*455A>T)
17g.42911416A=CA2260697534G6PC1c.1064A= (p.Lys355=)
c.*456A= (n.*456A=)
17g.42911416A>CCA399657944G6PC1c.1064A>C (p.Lys355Thr)
c.*456A>C (n.*456A>C)
17g.42911416A>GCA8587708G6PC1c.1064A>G (p.Lys355Arg)
c.*456A>G (n.*456A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911416A>TCA399657947G6PC1c.1064A>T (p.Lys355Met)
c.*456A>T (n.*456A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched