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.42911281A>CCA399657118G6PC1c.929A>C (p.Asp310Ala)
c.*321A>C (n.*321A>C)
17g.42911281A>GCA399657124G6PC1c.929A>G (p.Asp310Gly)
c.*321A>G (n.*321A>G)
17g.42911281A>TCA399657132G6PC1c.929A>T (p.Asp310Val)
c.*321A>T (n.*321A>T)
17g.42911282C>ACA399657136G6PC1c.930C>A (p.Asp310Glu)
c.*322C>A (n.*322C>A)
17g.42911282C=CA2260697468G6PC1c.930C= (p.Asp310=)
c.*322C= (n.*322C=)
17g.42911282C>GCA399657138G6PC1c.930C>G (p.Asp310Glu)
c.*322C>G (n.*322C>G)
17g.42911282C>TCA500229842G6PC1c.930C>T (p.Asp310=)
c.*322C>T (n.*322C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911283T>ACA399657156G6PC1c.931T>A (p.Ser311Thr)
c.*323T>A (n.*323T>A)
17g.42911283T>CCA399657153G6PC1c.931T>C (p.Ser311Pro)
c.*323T>C (n.*323T>C)
17g.42911283T>GCA399657155G6PC1c.931T>G (p.Ser311Ala)
c.*323T>G (n.*323T>G)
17g.42911284C>ACA399657160G6PC1c.932C>A (p.Ser311Tyr)
c.*324C>A (n.*324C>A)
 gnomAD v4
17g.42911284C>GCA399657164G6PC1c.932C>G (p.Ser311Cys)
c.*324C>G (n.*324C>G)
17g.42911284C>TCA399657163G6PC1c.932C>T (p.Ser311Phe)
c.*324C>T (n.*324C>T)
 COSMIC
17g.42911285C>ACA500229845G6PC1c.933C>A (p.Ser311=)
c.*325C>A (n.*325C>A)
 dbSNP
17g.42911285C=CA2260697469G6PC1c.933C= (p.Ser311=)
c.*325C= (n.*325C=)
17g.42911285C>GCA500229846G6PC1c.933C>G (p.Ser311=)
c.*325C>G (n.*325C>G)
17g.42911285C>TCA500229849G6PC1c.933C>T (p.Ser311=)
c.*325C>T (n.*325C>T)
 dbSNP gnomAD v4
17g.42911286T>ACA399657165G6PC1c.934T>A (p.Leu312Met)
c.*326T>A (n.*326T>A)
17g.42911286T>CCA500229851G6PC1c.934T>C (p.Leu312=)
c.*326T>C (n.*326T>C)
17g.42911286T>GCA399657166G6PC1c.934T>G (p.Leu312Val)
c.*326T>G (n.*326T>G)
17g.42911287T>ACA399657167G6PC1c.935T>A (p.Leu312Ter)
c.*327T>A (n.*327T>A)
17g.42911287T>CCA399657171G6PC1c.935T>C (p.Leu312Ser)
c.*327T>C (n.*327T>C)
17g.42911287T>GCA399657169G6PC1c.935T>G (p.Leu312Trp)
c.*327T>G (n.*327T>G)
17g.42911288G>ACA500229852G6PC1c.936G>A (p.Leu312=)
c.*328G>A (n.*328G>A)
17g.42911288G>CCA399657175G6PC1c.936G>C (p.Leu312Phe)
c.*328G>C (n.*328G>C)
 gnomAD v4
17g.42911288G>TCA399657179G6PC1c.936G>T (p.Leu312Phe)
c.*328G>T (n.*328G>T)
17g.42911289A>CCA399657184G6PC1c.937A>C (p.Lys313Gln)
c.*329A>C (n.*329A>C)
17g.42911289A>GCA399657187G6PC1c.937A>G (p.Lys313Glu)
c.*329A>G (n.*329A>G)
17g.42911289A>TCA399657189G6PC1c.937A>T (p.Lys313Ter)
c.*329A>T (n.*329A>T)
17g.42911290A>CCA399657192G6PC1c.938A>C (p.Lys313Thr)
c.*330A>C (n.*330A>C)
17g.42911290A>GCA399657194G6PC1c.938A>G (p.Lys313Arg)
c.*330A>G (n.*330A>G)
17g.42911290A>TCA399657195G6PC1c.938A>T (p.Lys313Ile)
c.*330A>T (n.*330A>T)
17g.42911291A=CA2260697470G6PC1c.939A= (p.Lys313=)
c.*331A= (n.*331A=)
17g.42911291A>CCA399657196G6PC1c.939A>C (p.Lys313Asn)
c.*331A>C (n.*331A>C)
 dbSNP gnomAD v3 gnomAD v4
17g.42911291A>GCA500229857G6PC1c.939A>G (p.Lys313=)
c.*331A>G (n.*331A>G)
17g.42911291A>TCA399657197G6PC1c.939A>T (p.Lys313Asn)
c.*331A>T (n.*331A>T)
17g.42911292C>ACA399657202G6PC1c.940C>A (p.Pro314Thr)
c.*332C>A (n.*332C>A)
17g.42911292C=CA2260697471G6PC1c.940C= (p.Pro314=)
c.*332C= (n.*332C=)
17g.42911292C>GCA399657201G6PC1c.940C>G (p.Pro314Ala)
c.*332C>G (n.*332C>G)
17g.42911292C>TCA399657200G6PC1c.940C>T (p.Pro314Ser)
c.*332C>T (n.*332C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911296dupCA2638041600G6PC1c.944dup (p.Ser316IlefsTer?)
c.*336dup (n.*336dup)
 gnomAD v4
17g.42911293C>ACA399657204G6PC1c.941C>A (p.Pro314His)
c.*333C>A (n.*333C>A)
17g.42911293C=CA2260697472G6PC1c.941C= (p.Pro314=)
c.*333C= (n.*333C=)
17g.42911293C>GCA399657206G6PC1c.941C>G (p.Pro314Arg)
c.*333C>G (n.*333C>G)
17g.42911293C>TCA8587675G6PC1c.941C>T (p.Pro314Leu)
c.*333C>T (n.*333C>T)
 dbSNP ExAC gnomAD v2
17g.42911294C>ACA8587677G6PC1c.942C>A (p.Pro314=)
c.*334C>A (n.*334C>A)
 dbSNP ExAC gnomAD v2
17g.42911294C=CA2260697473G6PC1c.942C= (p.Pro314=)
c.*334C= (n.*334C=)
17g.42911294C>GCA8587676G6PC1c.942C>G (p.Pro314=)
c.*334C>G (n.*334C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911294C>TCA500229861G6PC1c.942C>T (p.Pro314=)
c.*334C>T (n.*334C>T)
17g.42911295C>ACA399657216G6PC1c.943C>A (p.Pro315Thr)
c.*335C>A (n.*335C>A)
17g.42911295C=CA2260697474G6PC1c.943C= (p.Pro315=)
c.*335C= (n.*335C=)
17g.42911295C>GCA323719G6PC1c.943C>G (p.Pro315Ala)
c.*335C>G (n.*335C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911295C>TCA399657220G6PC1c.943C>T (p.Pro315Ser)
c.*335C>T (n.*335C>T)
 dbSNP COSMIC
17g.42911296C>ACA399657224G6PC1c.944C>A (p.Pro315Gln)
c.*336C>A (n.*336C>A)
17g.42911296C=CA2260697475G6PC1c.944C= (p.Pro315=)
c.*336C= (n.*336C=)
17g.42911296C>GCA399657227G6PC1c.944C>G (p.Pro315Arg)
c.*336C>G (n.*336C>G)
17g.42911296C>TCA8587678G6PC1c.944C>T (p.Pro315Leu)
c.*336C>T (n.*336C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911297A=CA2260697476G6PC1c.945A= (p.Pro315=)
c.*337A= (n.*337A=)
17g.42911297A>CCA500229864G6PC1c.945A>C (p.Pro315=)
c.*337A>C (n.*337A>C)
17g.42911297A>GCA500229866G6PC1c.945A>G (p.Pro315=)
c.*337A>G (n.*337A>G)
 ClinVar dbSNP
17g.42911297A>TCA500229867G6PC1c.945A>T (p.Pro315=)
c.*337A>T (n.*337A>T)
 dbSNP
17g.42911298T>ACA399657236G6PC1c.946T>A (p.Ser316Thr)
c.*338T>A (n.*338T>A)
17g.42911298T>CCA399657238G6PC1c.946T>C (p.Ser316Pro)
c.*338T>C (n.*338T>C)
 COSMIC
17g.42911298T>GCA399657235G6PC1c.946T>G (p.Ser316Ala)
c.*338T>G (n.*338T>G)
17g.42911299C>ACA399657241G6PC1c.947C>A (p.Ser316Tyr)
c.*339C>A (n.*339C>A)
 gnomAD v4
17g.42911299C>GCA399657243G6PC1c.947C>G (p.Ser316Cys)
c.*339C>G (n.*339C>G)
 gnomAD v4
17g.42911299C>TCA399657246G6PC1c.947C>T (p.Ser316Phe)
c.*339C>T (n.*339C>T)
17g.42911300C>ACA8587679G6PC1c.948C>A (p.Ser316=)
c.*340C>A (n.*340C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911300C=CA2260697477G6PC1c.948C= (p.Ser316=)
c.*340C= (n.*340C=)
17g.42911300C>GCA500229870G6PC1c.948C>G (p.Ser316=)
c.*340C>G (n.*340C>G)
17g.42911300C>TCA8587680G6PC1c.948C>T (p.Ser316=)
c.*340C>T (n.*340C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911301C>ACA399657259G6PC1c.949C>A (p.Gln317Lys)
c.*341C>A (n.*341C>A)
17g.42911301C>GCA399657257G6PC1c.949C>G (p.Gln317Glu)
c.*341C>G (n.*341C>G)
17g.42911301C>TCA399657258G6PC1c.949C>T (p.Gln317Ter)
c.*341C>T (n.*341C>T)
17g.42911302A>CCA399657261G6PC1c.950A>C (p.Gln317Pro)
c.*342A>C (n.*342A>C)
17g.42911302A>GCA399657263G6PC1c.950A>G (p.Gln317Arg)
c.*342A>G (n.*342A>G)
17g.42911302A>TCA399657266G6PC1c.950A>T (p.Gln317Leu)
c.*342A>T (n.*342A>T)
17g.42911303A=CA2260697478G6PC1c.951A= (p.Gln317=)
c.*343A= (n.*343A=)
17g.42911303A>CCA399657268G6PC1c.951A>C (p.Gln317His)
c.*343A>C (n.*343A>C)
17g.42911303A>GCA500229877G6PC1c.951A>G (p.Gln317=)
c.*343A>G (n.*343A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42911303A>TCA399657270G6PC1c.951A>T (p.Gln317His)
c.*343A>T (n.*343A>T)
17g.42911304G>ACA399657274G6PC1c.952G>A (p.Val318Ile)
c.*344G>A (n.*344G>A)
17g.42911304G>CCA399657278G6PC1c.952G>C (p.Val318Leu)
c.*344G>C (n.*344G>C)
17g.42911304G=CA2260697479G6PC1c.952G= (p.Val318=)
c.*344G= (n.*344G=)
17g.42911304G>TCA399657276G6PC1c.952G>T (p.Val318Phe)
c.*344G>T (n.*344G>T)
17g.42911304_42911305insGTCA658824740G6PC1c.952_953insGT (p.Val318GlyfsTer16)
c.*344_*345insGT (n.*344_*345insGT)
 ClinVar dbSNP
17g.42911305T>ACA399657281G6PC1c.953T>A (p.Val318Asp)
c.*345T>A (n.*345T>A)
17g.42911305T>CCA399657285G6PC1c.953T>C (p.Val318Ala)
c.*345T>C (n.*345T>C)
 dbSNP gnomAD v4
17g.42911305T>GCA399657290G6PC1c.953T>G (p.Val318Gly)
c.*345T>G (n.*345T>G)
 dbSNP
17g.42911305T=CA2260697480G6PC1c.953T= (p.Val318=)
c.*345T= (n.*345T=)
17g.42911306C>ACA8587682G6PC1c.954C>A (p.Val318=)
c.*346C>A (n.*346C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911306C=CA2260697481G6PC1c.954C= (p.Val318=)
c.*346C= (n.*346C=)
17g.42911306C>GCA500229881G6PC1c.954C>G (p.Val318=)
c.*346C>G (n.*346C>G)
17g.42911306C>TCA8587681G6PC1c.954C>T (p.Val318=)
c.*346C>T (n.*346C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911307G>ACA8587683G6PC1c.955G>A (p.Glu319Lys)
c.*347G>A (n.*347G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911307G>CCA399657298G6PC1c.955G>C (p.Glu319Gln)
c.*347G>C (n.*347G>C)
17g.42911307G=CA2260697482G6PC1c.955G= (p.Glu319=)
c.*347G= (n.*347G=)
17g.42911307G>TCA399657300G6PC1c.955G>T (p.Glu319Ter)
c.*347G>T (n.*347G>T)
17g.42911308A>CCA399657303G6PC1c.956A>C (p.Glu319Ala)
c.*348A>C (n.*348A>C)
17g.42911308A>GCA399657306G6PC1c.956A>G (p.Glu319Gly)
c.*348A>G (n.*348A>G)
17g.42911308A>TCA399657308G6PC1c.956A>T (p.Glu319Val)
c.*348A>T (n.*348A>T)
17g.42911309G>ACA290790151G6PC1c.957G>A (p.Glu319=)
c.*349G>A (n.*349G>A)
 ClinVar dbSNP gnomAD v4
17g.42911309G>CCA399657313G6PC1c.957G>C (p.Glu319Asp)
c.*349G>C (n.*349G>C)
 dbSNP
17g.42911309G=CA2260697483G6PC1c.957G= (p.Glu319=)
c.*349G= (n.*349G=)
17g.42911309G>TCA399657312G6PC1c.957G>T (p.Glu319Asp)
c.*349G>T (n.*349G>T)
 COSMIC
17g.42911310C>ACA399657315G6PC1c.958C>A (p.Leu320Met)
c.*350C>A (n.*350C>A)
17g.42911310C>GCA399657316G6PC1c.958C>G (p.Leu320Val)
c.*350C>G (n.*350C>G)
17g.42911310C>TCA500229888G6PC1c.958C>T (p.Leu320=)
c.*350C>T (n.*350C>T)
17g.42911311T>ACA399657317G6PC1c.959T>A (p.Leu320Gln)
c.*351T>A (n.*351T>A)
17g.42911311T>CCA399657318G6PC1c.959T>C (p.Leu320Pro)
c.*351T>C (n.*351T>C)
 gnomAD v4
17g.42911311T>GCA399657319G6PC1c.959T>G (p.Leu320Arg)
c.*351T>G (n.*351T>G)
17g.42911312G>ACA500229891G6PC1c.960G>A (p.Leu320=)
c.*352G>A (n.*352G>A)
 ClinVar
17g.42911312G>CCA500229893G6PC1c.960G>C (p.Leu320=)
c.*352G>C (n.*352G>C)
17g.42911312G=CA2260697484G6PC1c.960G= (p.Leu320=)
c.*352G= (n.*352G=)
17g.42911312G>TCA8587684G6PC1c.960G>T (p.Leu320=)
c.*352G>T (n.*352G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911313G>ACA8587685G6PC1c.961G>A (p.Val321Ile)
c.*353G>A (n.*353G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911313G>CCA399657322G6PC1c.961G>C (p.Val321Leu)
c.*353G>C (n.*353G>C)
17g.42911313G=CA2260697485G6PC1c.961G= (p.Val321=)
c.*353G= (n.*353G=)
17g.42911313G>TCA399657321G6PC1c.961G>T (p.Val321Phe)
c.*353G>T (n.*353G>T)
 gnomAD v4
17g.42911314T>ACA399657323G6PC1c.962T>A (p.Val321Asp)
c.*354T>A (n.*354T>A)
 gnomAD v4
17g.42911314T>CCA399657324G6PC1c.962T>C (p.Val321Ala)
c.*354T>C (n.*354T>C)
 gnomAD v4
17g.42911314T>GCA399657325G6PC1c.962T>G (p.Val321Gly)
c.*354T>G (n.*354T>G)
 gnomAD v4
17g.42911315C>ACA500229896G6PC1c.963C>A (p.Val321=)
c.*355C>A (n.*355C>A)
17g.42911315C>GCA500229900G6PC1c.963C>G (p.Val321=)
c.*355C>G (n.*355C>G)
17g.42911315C>TCA500229898G6PC1c.963C>T (p.Val321=)
c.*355C>T (n.*355C>T)
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

Number of alleles fetched