Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40472154G>ACA7481671CHST14c.941G>A (p.Arg314Gln)
c.866G>A (p.Arg289Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472154G>CCA391768132CHST14c.941G>C (p.Arg314Pro)
c.866G>C (p.Arg289Pro)
 dbSNP
15g.40472154G=CA2171795414CHST14c.941G= (p.Arg314=)
c.866G= (p.Arg289=)
15g.40472154G>TCA391768130CHST14c.941G>T (p.Arg314Leu)
c.866G>T (p.Arg289Leu)
15g.40472155G>ACA489975303CHST14c.942G>A (p.Arg314=)
c.867G>A (p.Arg289=)
15g.40472155G>CCA489975304CHST14c.942G>C (p.Arg314=)
c.867G>C (p.Arg289=)
 gnomAD v4
15g.40472155G>TCA489975305CHST14c.942G>T (p.Arg314=)
c.867G>T (p.Arg289=)
15g.40472156G>ACA268822934CHST14c.943G>A (p.Ala315Thr)
c.868G>A (p.Ala290Thr)
 dbSNP
15g.40472156G>CCA391768136CHST14c.943G>C (p.Ala315Pro)
c.868G>C (p.Ala290Pro)
 gnomAD v4
15g.40472156G=CA2171795415CHST14c.943G= (p.Ala315=)
c.868G= (p.Ala290=)
15g.40472156G>TCA391768137CHST14c.943G>T (p.Ala315Ser)
c.868G>T (p.Ala290Ser)
 gnomAD v4
15g.40472157C>ACA391768141CHST14c.944C>A (p.Ala315Glu)
c.869C>A (p.Ala290Glu)
15g.40472157C>GCA391768143CHST14c.944C>G (p.Ala315Gly)
c.869C>G (p.Ala290Gly)
15g.40472157C>TCA391768147CHST14c.944C>T (p.Ala315Val)
c.869C>T (p.Ala290Val)
15g.40472158A=CA2171795416CHST14c.945A= (p.Ala315=)
c.870A= (p.Ala290=)
15g.40472158A>CCA489975307CHST14c.945A>C (p.Ala315=)
c.870A>C (p.Ala290=)
 dbSNP
15g.40472158A>GCA489975308CHST14c.945A>G (p.Ala315=)
c.870A>G (p.Ala290=)
15g.40472158A>TCA489975310CHST14c.945A>T (p.Ala315=)
c.870A>T (p.Ala290=)
15g.40472159C>ACA391768149CHST14c.946C>A (p.Pro316Thr)
c.871C>A (p.Pro291Thr)
15g.40472159C=CA2171795417CHST14c.946C= (p.Pro316=)
c.871C= (p.Pro291=)
15g.40472159C>GCA391768151CHST14c.946C>G (p.Pro316Ala)
c.871C>G (p.Pro291Ala)
 dbSNP gnomAD v2 gnomAD v4
15g.40472159C>TCA10605802CHST14c.946C>T (p.Pro316Ser)
c.871C>T (p.Pro291Ser)
 ClinVar dbSNP gnomAD v4
15g.40472160C>ACA391768157CHST14c.947C>A (p.Pro316Gln)
c.872C>A (p.Pro291Gln)
15g.40472160C>GCA391768160CHST14c.947C>G (p.Pro316Arg)
c.872C>G (p.Pro291Arg)
15g.40472160C>TCA391768163CHST14c.947C>T (p.Pro316Leu)
c.872C>T (p.Pro291Leu)
15g.40472161A=CA2171795418CHST14c.948A= (p.Pro316=)
c.873A= (p.Pro291=)
15g.40472161A>CCA489975315CHST14c.948A>C (p.Pro316=)
c.873A>C (p.Pro291=)
 dbSNP
15g.40472161A>GCA489975313CHST14c.948A>G (p.Pro316=)
c.873A>G (p.Pro291=)
 ClinVar
15g.40472161A>TCA489975314CHST14c.948A>T (p.Pro316=)
c.873A>T (p.Pro291=)
15g.40472162C>ACA391768166CHST14c.949C>A (p.Pro317Thr)
c.874C>A (p.Pro292Thr)
15g.40472162C=CA2171795419CHST14c.949C= (p.Pro317=)
c.874C= (p.Pro292=)
15g.40472162C>GCA391768165CHST14c.949C>G (p.Pro317Ala)
c.874C>G (p.Pro292Ala)
15g.40472162C>TCA7481672CHST14c.949C>T (p.Pro317Ser)
c.874C>T (p.Pro292Ser)
 dbSNP ExAC gnomAD v2
15g.40472163C>ACA391768167CHST14c.950C>A (p.Pro317His)
c.875C>A (p.Pro292His)
15g.40472163C=CA2171795420CHST14c.950C= (p.Pro317=)
c.875C= (p.Pro292=)
15g.40472163C>GCA391768170CHST14c.950C>G (p.Pro317Arg)
c.875C>G (p.Pro292Arg)
15g.40472163C>TCA391768168CHST14c.950C>T (p.Pro317Leu)
c.875C>T (p.Pro292Leu)
 dbSNP gnomAD v3 gnomAD v4
15g.40472164T>ACA489975319CHST14c.951T>A (p.Pro317=)
c.876T>A (p.Pro292=)
15g.40472164T>CCA489975320CHST14c.951T>C (p.Pro317=)
c.876T>C (p.Pro292=)
15g.40472164T>GCA489975322CHST14c.951T>G (p.Pro317=)
c.876T>G (p.Pro292=)
15g.40472165C>ACA391768173CHST14c.952C>A (p.His318Asn)
c.877C>A (p.His293Asn)
15g.40472165C>GCA391768177CHST14c.952C>G (p.His318Asp)
c.877C>G (p.His293Asp)
 COSMIC
15g.40472165C>TCA391768175CHST14c.952C>T (p.His318Tyr)
c.877C>T (p.His293Tyr)
 COSMIC
15g.40472166A=CA2171795421CHST14c.953A= (p.His318=)
c.878A= (p.His293=)
15g.40472166A>CCA391768178CHST14c.953A>C (p.His318Pro)
c.878A>C (p.His293Pro)
 dbSNP
15g.40472166A>GCA391768180CHST14c.953A>G (p.His318Arg)
c.878A>G (p.His293Arg)
15g.40472166A>TCA391768179CHST14c.953A>T (p.His318Leu)
c.878A>T (p.His293Leu)
15g.40472167C>ACA391768181CHST14c.954C>A (p.His318Gln)
c.879C>A (p.His293Gln)
 gnomAD v4
15g.40472167C=CA2171795422CHST14c.954C= (p.His318=)
c.879C= (p.His293=)
15g.40472167C>GCA391768182CHST14c.954C>G (p.His318Gln)
c.879C>G (p.His293Gln)
 dbSNP
15g.40472167C>TCA489975325CHST14c.954C>T (p.His318=)
c.879C>T (p.His293=)
 gnomAD v4
15g.40472168G>ACA391768183CHST14c.955G>A (p.Val319Ile)
c.880G>A (p.Val294Ile)
 gnomAD v4
15g.40472168G>CCA391768184CHST14c.955G>C (p.Val319Leu)
c.880G>C (p.Val294Leu)
 dbSNP gnomAD v4
15g.40472168G=CA2171795423CHST14c.955G= (p.Val319=)
c.880G= (p.Val294=)
15g.40472168G>TCA391768186CHST14c.955G>T (p.Val319Phe)
c.880G>T (p.Val294Phe)
15g.40472169T>ACA391768189CHST14c.956T>A (p.Val319Asp)
c.881T>A (p.Val294Asp)
15g.40472169T>CCA391768191CHST14c.956T>C (p.Val319Ala)
c.881T>C (p.Val294Ala)
15g.40472169T>GCA391768192CHST14c.956T>G (p.Val319Gly)
c.881T>G (p.Val294Gly)
15g.40472170C>ACA489975329CHST14c.957C>A (p.Val319=)
c.882C>A (p.Val294=)
15g.40472170C>GCA489975330CHST14c.957C>G (p.Val319=)
c.882C>G (p.Val294=)
15g.40472170C>TCA489975331CHST14c.957C>T (p.Val319=)
c.882C>T (p.Val294=)
15g.40472171C>ACA489975332CHST14c.958C>A (p.Arg320=)
c.883C>A (p.Arg295=)
15g.40472171C=CA2171795424CHST14c.958C= (p.Arg320=)
c.883C= (p.Arg295=)
15g.40472171C>GCA391768193CHST14c.958C>G (p.Arg320Gly)
c.883C>G (p.Arg295Gly)
 gnomAD v4
15g.40472171C>TCA391768194CHST14c.958C>T (p.Arg320Ter)
c.883C>T (p.Arg295Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472172G>ACA391768197CHST14c.959G>A (p.Arg320Gln)
c.884G>A (p.Arg295Gln)
 dbSNP
15g.40472172G>CCA391768201CHST14c.959G>C (p.Arg320Pro)
c.884G>C (p.Arg295Pro)
15g.40472172G>TCA391768206CHST14c.959G>T (p.Arg320Leu)
c.884G>T (p.Arg295Leu)
15g.40472173A>CCA489975333CHST14c.960A>C (p.Arg320=)
c.885A>C (p.Arg295=)
15g.40472173A>GCA489975336CHST14c.960A>G (p.Arg320=)
c.885A>G (p.Arg295=)
15g.40472173A>TCA489975334CHST14c.960A>T (p.Arg320=)
c.885A>T (p.Arg295=)
15g.40472174T>ACA391768217CHST14c.961T>A (p.Phe321Ile)
c.886T>A (p.Phe296Ile)
15g.40472174T>CCA391768213CHST14c.961T>C (p.Phe321Leu)
c.886T>C (p.Phe296Leu)
 gnomAD v4
15g.40472174T>GCA391768211CHST14c.961T>G (p.Phe321Val)
c.886T>G (p.Phe296Val)
15g.40472175T>ACA391768221CHST14c.962T>A (p.Phe321Tyr)
c.887T>A (p.Phe296Tyr)
15g.40472175T>CCA391768222CHST14c.962T>C (p.Phe321Ser)
c.887T>C (p.Phe296Ser)
15g.40472175T>GCA391768225CHST14c.962T>G (p.Phe321Cys)
c.887T>G (p.Phe296Cys)
15g.40472175T=CA2171795425CHST14c.962T= (p.Phe321=)
c.887T= (p.Phe296=)
15g.40472175_40472176insGCA617557501CHST14c.962_963insG (p.Phe321LeufsTer?)
c.887_888insG (p.Phe296LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
15g.40472176T>ACA391768233CHST14c.963T>A (p.Phe321Leu)
c.888T>A (p.Phe296Leu)
15g.40472176T>CCA489975337CHST14c.963T>C (p.Phe321=)
c.888T>C (p.Phe296=)
 gnomAD v3 gnomAD v4
15g.40472176T>GCA391768235CHST14c.963T>G (p.Phe321Leu)
c.888T>G (p.Phe296Leu)
15g.40472177C>ACA391768239CHST14c.964C>A (p.Pro322Thr)
c.889C>A (p.Pro297Thr)
15g.40472177C>GCA391768246CHST14c.964C>G (p.Pro322Ala)
c.889C>G (p.Pro297Ala)
15g.40472177C>TCA391768248CHST14c.964C>T (p.Pro322Ser)
c.889C>T (p.Pro297Ser)
15g.40472178C>ACA391768250CHST14c.965C>A (p.Pro322Gln)
c.890C>A (p.Pro297Gln)
15g.40472178C=CA2171795426CHST14c.965C= (p.Pro322=)
c.890C= (p.Pro297=)
15g.40472178C>GCA391768251CHST14c.965C>G (p.Pro322Arg)
c.890C>G (p.Pro297Arg)
15g.40472178C>TCA391768255CHST14c.965C>T (p.Pro322Leu)
c.890C>T (p.Pro297Leu)
 dbSNP gnomAD v2 gnomAD v4
15g.40472179A>CCA489975340CHST14c.966A>C (p.Pro322=)
c.891A>C (p.Pro297=)
15g.40472179A>GCA489975341CHST14c.966A>G (p.Pro322=)
c.891A>G (p.Pro297=)
15g.40472179A>TCA489975342CHST14c.966A>T (p.Pro322=)
c.891A>T (p.Pro297=)
15g.40472180G>ACA391768260CHST14c.967G>A (p.Ala323Thr)
c.892G>A (p.Ala298Thr)
15g.40472180G>CCA391768262CHST14c.967G>C (p.Ala323Pro)
c.892G>C (p.Ala298Pro)
15g.40472180G>TCA391768265CHST14c.967G>T (p.Ala323Ser)
c.892G>T (p.Ala298Ser)
15g.40472181C>ACA391768272CHST14c.968C>A (p.Ala323Asp)
c.893C>A (p.Ala298Asp)
15g.40472181C>GCA391768275CHST14c.968C>G (p.Ala323Gly)
c.893C>G (p.Ala298Gly)
 gnomAD v4
15g.40472181C>TCA391768271CHST14c.968C>T (p.Ala323Val)
c.893C>T (p.Ala298Val)
15g.40472182T>ACA489975345CHST14c.969T>A (p.Ala323=)
c.894T>A (p.Ala298=)
15g.40472182T>CCA489975343CHST14c.969T>C (p.Ala323=)
c.894T>C (p.Ala298=)
15g.40472182T>GCA489975344CHST14c.969T>G (p.Ala323=)
c.894T>G (p.Ala298=)
15g.40472183C>ACA391768282CHST14c.970C>A (p.Arg324Ser)
c.895C>A (p.Arg299Ser)
15g.40472183C=CA2171795427CHST14c.970C= (p.Arg324=)
c.895C= (p.Arg299=)
15g.40472183C>GCA391768285CHST14c.970C>G (p.Arg324Gly)
c.895C>G (p.Arg299Gly)
15g.40472183C>TCA7481673CHST14c.970C>T (p.Arg324Cys)
c.895C>T (p.Arg299Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472184G>ACA7481674CHST14c.971G>A (p.Arg324His)
c.896G>A (p.Arg299His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472184G>CCA391768297CHST14c.971G>C (p.Arg324Pro)
c.896G>C (p.Arg299Pro)
 dbSNP gnomAD v3 gnomAD v4
15g.40472184G=CA2171795428CHST14c.971G= (p.Arg324=)
c.896G= (p.Arg299=)
15g.40472184G>TCA7481675CHST14c.971G>T (p.Arg324Leu)
c.896G>T (p.Arg299Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472185C>ACA489975349CHST14c.972C>A (p.Arg324=)
c.897C>A (p.Arg299=)
15g.40472185C>GCA489975350CHST14c.972C>G (p.Arg324=)
c.897C>G (p.Arg299=)
15g.40472185C>TCA489975351CHST14c.972C>T (p.Arg324=)
c.897C>T (p.Arg299=)
15g.40472186C>ACA391768312CHST14c.973C>A (p.Gln325Lys)
c.898C>A (p.Gln300Lys)
15g.40472186C>GCA391768303CHST14c.973C>G (p.Gln325Glu)
c.898C>G (p.Gln300Glu)
15g.40472186C>TCA391768309CHST14c.973C>T (p.Gln325Ter)
c.898C>T (p.Gln300Ter)
15g.40472187A>CCA391768315CHST14c.974A>C (p.Gln325Pro)
c.899A>C (p.Gln300Pro)
15g.40472187A>GCA391768318CHST14c.974A>G (p.Gln325Arg)
c.899A>G (p.Gln300Arg)
15g.40472187A>TCA391768319CHST14c.974A>T (p.Gln325Leu)
c.899A>T (p.Gln300Leu)
15g.40472188G>ACA489975353CHST14c.975G>A (p.Gln325=)
c.900G>A (p.Gln300=)
 gnomAD v4
15g.40472188G>CCA391768323CHST14c.975G>C (p.Gln325His)
c.900G>C (p.Gln300His)
15g.40472188G>TCA391768326CHST14c.975G>T (p.Gln325His)
c.900G>T (p.Gln300His)
 gnomAD v4
15g.40472189G>ACA391768327CHST14c.976G>A (p.Ala326Thr)
c.901G>A (p.Ala301Thr)
 gnomAD v4
15g.40472189G>CCA391768329CHST14c.976G>C (p.Ala326Pro)
c.901G>C (p.Ala301Pro)
15g.40472189G>TCA391768328CHST14c.976G>T (p.Ala326Ser)
c.901G>T (p.Ala301Ser)
15g.40472190_40472193dupCA2695219941CHST14c.977_980dup (p.Trp327CysfsTer29)
c.902_905dup (p.Trp302CysfsTer29)
15g.40472190C>ACA391768330CHST14c.977C>A (p.Ala326Asp)
c.902C>A (p.Ala301Asp)
 dbSNP gnomAD v3 gnomAD v4
15g.40472190C=CA2171795429CHST14c.977C= (p.Ala326=)
c.902C= (p.Ala301=)
15g.40472190C>GCA391768331CHST14c.977C>G (p.Ala326Gly)
c.902C>G (p.Ala301Gly)
 dbSNP gnomAD v2 gnomAD v4
15g.40472190C>TCA391768332CHST14c.977C>T (p.Ala326Val)
c.902C>T (p.Ala301Val)
 ClinVar dbSNP
15g.40472191C>ACA489975355CHST14c.978C>A (p.Ala326=)
c.903C>A (p.Ala301=)
15g.40472191C=CA2171795430CHST14c.978C= (p.Ala326=)
c.903C= (p.Ala301=)
15g.40472191C>GCA489975356CHST14c.978C>G (p.Ala326=)
c.903C>G (p.Ala301=)
15g.40472191C>TCA7481676CHST14c.978C>T (p.Ala326=)
c.903C>T (p.Ala301=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472192T>ACA391768335CHST14c.979T>A (p.Trp327Arg)
c.904T>A (p.Trp302Arg)
15g.40472192T>CCA391768336CHST14c.979T>C (p.Trp327Arg)
c.904T>C (p.Trp302Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472192T>GCA391768340CHST14c.979T>G (p.Trp327Gly)
c.904T>G (p.Trp302Gly)
15g.40472192T=CA2171795431CHST14c.979T= (p.Trp327=)
c.904T= (p.Trp302=)
15g.40472193G>ACA391768343CHST14c.980G>A (p.Trp327Ter)
c.905G>A (p.Trp302Ter)
15g.40472193G>CCA391768347CHST14c.980G>C (p.Trp327Ser)
c.905G>C (p.Trp302Ser)
 gnomAD v4
15g.40472193G>TCA391768361CHST14c.980G>T (p.Trp327Leu)
c.905G>T (p.Trp302Leu)
15g.40472194_40472213dupCA658653827CHST14c.981_1000dup (p.Glu334GlyfsTer?)
c.906_925dup (p.Glu309GlyfsTer?)
 ClinVar dbSNP
15g.40472194G>ACA391768366CHST14c.981G>A (p.Trp327Ter)
c.906G>A (p.Trp302Ter)
 dbSNP gnomAD v3 gnomAD v4
15g.40472194G>CCA391768371CHST14c.981G>C (p.Trp327Cys)
c.906G>C (p.Trp302Cys)
15g.40472194G=CA2171795432CHST14c.981G= (p.Trp327=)
c.906G= (p.Trp302=)
15g.40472194G>TCA7481677CHST14c.981G>T (p.Trp327Cys)
c.906G>T (p.Trp302Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472195T>ACA391768376CHST14c.982T>A (p.Tyr328Asn)
c.907T>A (p.Tyr303Asn)
15g.40472195T>CCA391768380CHST14c.982T>C (p.Tyr328His)
c.907T>C (p.Tyr303His)
15g.40472195T>GCA391768384CHST14c.982T>G (p.Tyr328Asp)
c.907T>G (p.Tyr303Asp)
15g.40472196A=CA2171795433CHST14c.983A= (p.Tyr328=)
c.908A= (p.Tyr303=)
15g.40472196A>CCA391768388CHST14c.983A>C (p.Tyr328Ser)
c.908A>C (p.Tyr303Ser)
 dbSNP
15g.40472196A>GCA391768389CHST14c.983A>G (p.Tyr328Cys)
c.908A>G (p.Tyr303Cys)
15g.40472196A>TCA391768392CHST14c.983A>T (p.Tyr328Phe)
c.908A>T (p.Tyr303Phe)
15g.40472197C>ACA391768395CHST14c.984C>A (p.Tyr328Ter)
c.909C>A (p.Tyr303Ter)
15g.40472197C=CA2171795434CHST14c.984C= (p.Tyr328=)
c.909C= (p.Tyr303=)
15g.40472197C>GCA7481678CHST14c.984C>G (p.Tyr328Ter)
c.909C>G (p.Tyr303Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472197C>TCA489975360CHST14c.984C>T (p.Tyr328=)
c.909C>T (p.Tyr303=)
 ClinVar dbSNP
15g.40472198C>ACA489975361CHST14c.985C>A (p.Arg329=)
c.910C>A (p.Arg304=)
15g.40472198C=CA2171795435CHST14c.985C= (p.Arg329=)
c.910C= (p.Arg304=)
15g.40472198C>GCA391768406CHST14c.985C>G (p.Arg329Gly)
c.910C>G (p.Arg304Gly)
 gnomAD v4
15g.40472198C>TCA7481679CHST14c.985C>T (p.Arg329Trp)
c.910C>T (p.Arg304Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472199G>ACA7481680CHST14c.986G>A (p.Arg329Gln)
c.911G>A (p.Arg304Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472199G>CCA391768427CHST14c.986G>C (p.Arg329Pro)
c.911G>C (p.Arg304Pro)
15g.40472199G=CA2171795436CHST14c.986G= (p.Arg329=)
c.911G= (p.Arg304=)
15g.40472199G>TCA391768430CHST14c.986G>T (p.Arg329Leu)
c.911G>T (p.Arg304Leu)
 dbSNP gnomAD v3 gnomAD v4
15g.40472200G>ACA489975364CHST14c.987G>A (p.Arg329=)
c.912G>A (p.Arg304=)
15g.40472200G>CCA489975365CHST14c.987G>C (p.Arg329=)
c.912G>C (p.Arg304=)
 dbSNP
15g.40472200G=CA2171795437CHST14c.987G= (p.Arg329=)
c.912G= (p.Arg304=)
15g.40472200G>TCA489975366CHST14c.987G>T (p.Arg329=)
c.912G>T (p.Arg304=)
15g.40472201C>ACA391768434CHST14c.988C>A (p.Pro330Thr)
c.913C>A (p.Pro305Thr)
15g.40472201C>GCA391768433CHST14c.988C>G (p.Pro330Ala)
c.913C>G (p.Pro305Ala)
15g.40472201C>TCA391768432CHST14c.988C>T (p.Pro330Ser)
c.913C>T (p.Pro305Ser)
15g.40472202C>ACA391768435CHST14c.989C>A (p.Pro330Gln)
c.914C>A (p.Pro305Gln)
15g.40472202C>GCA391768436CHST14c.989C>G (p.Pro330Arg)
c.914C>G (p.Pro305Arg)
15g.40472202C>TCA391768437CHST14c.989C>T (p.Pro330Leu)
c.914C>T (p.Pro305Leu)
15g.40472203A>CCA489975370CHST14c.990A>C (p.Pro330=)
c.915A>C (p.Pro305=)
15g.40472203A>GCA489975368CHST14c.990A>G (p.Pro330=)
c.915A>G (p.Pro305=)
15g.40472203A>TCA489975369CHST14c.990A>T (p.Pro330=)
c.915A>T (p.Pro305=)
15g.40472207_40472219delCA2575679824CHST14c.994_1006del (p.Ser332CysfsTer?)
c.919_931del (p.Ser307CysfsTer?)
 gnomAD v4
15g.40472204G>ACA391768439CHST14c.991G>A (p.Ala331Thr)
c.916G>A (p.Ala306Thr)
 gnomAD v4
15g.40472204G>CCA391768441CHST14c.991G>C (p.Ala331Pro)
c.916G>C (p.Ala306Pro)
15g.40472204G>TCA391768442CHST14c.991G>T (p.Ala331Ser)
c.916G>T (p.Ala306Ser)
15g.40472205C>ACA391768450CHST14c.992C>A (p.Ala331Asp)
c.917C>A (p.Ala306Asp)
15g.40472205C>GCA391768453CHST14c.992C>G (p.Ala331Gly)
c.917C>G (p.Ala306Gly)
 ClinVar gnomAD v4
15g.40472205C>TCA391768457CHST14c.992C>T (p.Ala331Val)
c.917C>T (p.Ala306Val)
15g.40472206C>ACA7481681CHST14c.993C>A (p.Ala331=)
c.918C>A (p.Ala306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472206C=CA2171795438CHST14c.993C= (p.Ala331=)
c.918C= (p.Ala306=)
15g.40472206C>GCA489975373CHST14c.993C>G (p.Ala331=)
c.918C>G (p.Ala306=)
15g.40472206C>TCA489975375CHST14c.993C>T (p.Ala331=)
c.918C>T (p.Ala306=)
15g.40472207A=CA2171795439CHST14c.994A= (p.Ser332=)
c.919A= (p.Ser307=)
15g.40472207A>CCA391768465CHST14c.994A>C (p.Ser332Arg)
c.919A>C (p.Ser307Arg)
 dbSNP
15g.40472207A>GCA391768468CHST14c.994A>G (p.Ser332Gly)
c.919A>G (p.Ser307Gly)
15g.40472207A>TCA391768470CHST14c.994A>T (p.Ser332Cys)
c.919A>T (p.Ser307Cys)
15g.40472208G>ACA391768474CHST14c.995G>A (p.Ser332Asn)
c.920G>A (p.Ser307Asn)
15g.40472208G>CCA391768475CHST14c.995G>C (p.Ser332Thr)
c.920G>C (p.Ser307Thr)
15g.40472208G>TCA391768473CHST14c.995G>T (p.Ser332Ile)
c.920G>T (p.Ser307Ile)
15g.40472209C>ACA391768476CHST14c.996C>A (p.Ser332Arg)
c.921C>A (p.Ser307Arg)
15g.40472209C=CA2171795440CHST14c.996C= (p.Ser332=)
c.921C= (p.Ser307=)
15g.40472209C>GCA391768477CHST14c.996C>G (p.Ser332Arg)
c.921C>G (p.Ser307Arg)
15g.40472209C>TCA268823000CHST14c.996C>T (p.Ser332=)
c.921C>T (p.Ser307=)
 dbSNP
15g.40472210C>ACA391768480CHST14c.997C>A (p.Pro333Thr)
c.922C>A (p.Pro308Thr)
 dbSNP
15g.40472210C=CA2171795441CHST14c.997C= (p.Pro333=)
c.922C= (p.Pro308=)
15g.40472210C>GCA391768482CHST14c.997C>G (p.Pro333Ala)
c.922C>G (p.Pro308Ala)
15g.40472210C>TCA391768493CHST14c.997C>T (p.Pro333Ser)
c.922C>T (p.Pro308Ser)
15g.40472211C>ACA391768496CHST14c.998C>A (p.Pro333His)
c.923C>A (p.Pro308His)
15g.40472211C>GCA391768498CHST14c.998C>G (p.Pro333Arg)
c.923C>G (p.Pro308Arg)
15g.40472211C>TCA391768501CHST14c.998C>T (p.Pro333Leu)
c.923C>T (p.Pro308Leu)
15g.40472212C>ACA489975376CHST14c.999C>A (p.Pro333=)
c.924C>A (p.Pro308=)
15g.40472212C=CA2171795442CHST14c.999C= (p.Pro333=)
c.924C= (p.Pro308=)
15g.40472212C>GCA7481683CHST14c.999C>G (p.Pro333=)
c.924C>G (p.Pro308=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472212C>TCA7481682CHST14c.999C>T (p.Pro333=)
c.924C>T (p.Pro308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472213G>ACA391768511CHST14c.1000G>A (p.Glu334Lys)
c.925G>A (p.Glu309Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.40472213G>CCA391768514CHST14c.1000G>C (p.Glu334Gln)
c.925G>C (p.Glu309Gln)
15g.40472213G=CA2171795443CHST14c.1000G= (p.Glu334=)
c.925G= (p.Glu309=)
15g.40472213G>TCA391768519CHST14c.1000G>T (p.Glu334Ter)
c.925G>T (p.Glu309Ter)
15g.40472214A>CCA391768520CHST14c.1001A>C (p.Glu334Ala)
c.926A>C (p.Glu309Ala)
15g.40472214A>GCA391768523CHST14c.1001A>G (p.Glu334Gly)
c.926A>G (p.Glu309Gly)
15g.40472214A>TCA391768521CHST14c.1001A>T (p.Glu334Val)
c.926A>T (p.Glu309Val)
15g.40472215A>CCA391768525CHST14c.1002A>C (p.Glu334Asp)
c.927A>C (p.Glu309Asp)
15g.40472215A>GCA489975378CHST14c.1002A>G (p.Glu334=)
c.927A>G (p.Glu309=)
15g.40472215A>TCA391768527CHST14c.1002A>T (p.Glu334Asp)
c.927A>T (p.Glu309Asp)
15g.40472216A>CCA391768532CHST14c.1003A>C (p.Ser335Arg)
c.928A>C (p.Ser310Arg)
15g.40472216A>GCA391768534CHST14c.1003A>G (p.Ser335Gly)
c.928A>G (p.Ser310Gly)
15g.40472216A>TCA391768539CHST14c.1003A>T (p.Ser335Cys)
c.928A>T (p.Ser310Cys)
15g.40472217G>ACA391768540CHST14c.1004G>A (p.Ser335Asn)
c.929G>A (p.Ser310Asn)
15g.40472217G>CCA391768541CHST14c.1004G>C (p.Ser335Thr)
c.929G>C (p.Ser310Thr)
15g.40472217G>TCA391768542CHST14c.1004G>T (p.Ser335Ile)
c.929G>T (p.Ser310Ile)
 ClinVar gnomAD v4
15g.40472218C>ACA391768543CHST14c.1005C>A (p.Ser335Arg)
c.930C>A (p.Ser310Arg)
15g.40472218C=CA2171795444CHST14c.1005C= (p.Ser335=)
c.930C= (p.Ser310=)
15g.40472218C>GCA391768544CHST14c.1005C>G (p.Ser335Arg)
c.930C>G (p.Ser310Arg)
15g.40472218C>TCA489975381CHST14c.1005C>T (p.Ser335=)
c.930C>T (p.Ser310=)
 dbSNP
15g.40472219C>ACA391768558CHST14c.1006C>A (p.Leu336Met)
c.931C>A (p.Leu311Met)
15g.40472219C>GCA391768547CHST14c.1006C>G (p.Leu336Val)
c.931C>G (p.Leu311Val)
15g.40472219C>TCA489975382CHST14c.1006C>T (p.Leu336=)
c.931C>T (p.Leu311=)
15g.40472220T>ACA391768565CHST14c.1007T>A (p.Leu336Gln)
c.932T>A (p.Leu311Gln)
15g.40472220T>CCA7481684CHST14c.1007T>C (p.Leu336Pro)
c.932T>C (p.Leu311Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472220T>GCA391768569CHST14c.1007T>G (p.Leu336Arg)
c.932T>G (p.Leu311Arg)
15g.40472220T=CA2171795445CHST14c.1007T= (p.Leu336=)
c.932T= (p.Leu311=)
15g.40472221G>ACA489975385CHST14c.1008G>A (p.Leu336=)
c.933G>A (p.Leu311=)
15g.40472221G>CCA489975386CHST14c.1008G>C (p.Leu336=)
c.933G>C (p.Leu311=)
15g.40472221G>TCA489975387CHST14c.1008G>T (p.Leu336=)
c.933G>T (p.Leu311=)
15g.40472222C>ACA391768573CHST14c.1009C>A (p.His337Asn)
c.934C>A (p.His312Asn)
15g.40472222C>GCA391768575CHST14c.1009C>G (p.His337Asp)
c.934C>G (p.His312Asp)
15g.40472222C>TCA391768574CHST14c.1009C>T (p.His337Tyr)
c.934C>T (p.His312Tyr)
15g.40472223A=CA2171795446CHST14c.1010A= (p.His337=)
c.935A= (p.His312=)
15g.40472223A>CCA391768576CHST14c.1010A>C (p.His337Pro)
c.935A>C (p.His312Pro)
15g.40472223A>GCA7481685CHST14c.1010A>G (p.His337Arg)
c.935A>G (p.His312Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472223A>TCA391768579CHST14c.1010A>T (p.His337Leu)
c.935A>T (p.His312Leu)
15g.40472224T>ACA391768582CHST14c.1011T>A (p.His337Gln)
c.936T>A (p.His312Gln)
15g.40472224T>CCA489975391CHST14c.1011T>C (p.His337=)
c.936T>C (p.His312=)
15g.40472224T>GCA391768586CHST14c.1011T>G (p.His337Gln)
c.936T>G (p.His312Gln)
15g.40472225T>ACA391768590CHST14c.1012T>A (p.Tyr338Asn)
c.937T>A (p.Tyr313Asn)
15g.40472225T>CCA391768593CHST14c.1012T>C (p.Tyr338His)
c.937T>C (p.Tyr313His)
15g.40472225T>GCA391768596CHST14c.1012T>G (p.Tyr338Asp)
c.937T>G (p.Tyr313Asp)
15g.40472226A>CCA391768599CHST14c.1013A>C (p.Tyr338Ser)
c.938A>C (p.Tyr313Ser)
15g.40472226A>GCA391768602CHST14c.1013A>G (p.Tyr338Cys)
c.938A>G (p.Tyr313Cys)
15g.40472226A>TCA391768605CHST14c.1013A>T (p.Tyr338Phe)
c.938A>T (p.Tyr313Phe)
15g.40472227C>ACA391768608CHST14c.1014C>A (p.Tyr338Ter)
c.939C>A (p.Tyr313Ter)
15g.40472227C=CA2171795447CHST14c.1014C= (p.Tyr338=)
c.939C= (p.Tyr313=)
15g.40472227C>GCA391768611CHST14c.1014C>G (p.Tyr338Ter)
c.939C>G (p.Tyr313Ter)
15g.40472227C>TCA489975395CHST14c.1014C>T (p.Tyr338=)
c.939C>T (p.Tyr313=)
 dbSNP gnomAD v2 gnomAD v4
15g.40472228C>ACA391768615CHST14c.1015C>A (p.His339Asn)
c.940C>A (p.His314Asn)
15g.40472228C>GCA391768617CHST14c.1015C>G (p.His339Asp)
c.940C>G (p.His314Asp)
15g.40472228C>TCA391768618CHST14c.1015C>T (p.His339Tyr)
c.940C>T (p.His314Tyr)
15g.40472229A=CA2171795448CHST14c.1016A= (p.His339=)
c.941A= (p.His314=)
15g.40472229A>CCA391768625CHST14c.1016A>C (p.His339Pro)
c.941A>C (p.His314Pro)
 dbSNP
15g.40472229A>GCA391768629CHST14c.1016A>G (p.His339Arg)
c.941A>G (p.His314Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.40472229A>TCA391768634CHST14c.1016A>T (p.His339Leu)
c.941A>T (p.His314Leu)
 dbSNP gnomAD v4
15g.40472230C>ACA391768637CHST14c.1017C>A (p.His339Gln)
c.942C>A (p.His314Gln)
 COSMIC
15g.40472230C>GCA391768639CHST14c.1017C>G (p.His339Gln)
c.942C>G (p.His314Gln)
15g.40472230C>TCA489975397CHST14c.1017C>T (p.His339=)
c.942C>T (p.His314=)
15g.40472231T>ACA391768643CHST14c.1018T>A (p.Leu340Met)
c.943T>A (p.Leu315Met)
15g.40472231T>CCA489975401CHST14c.1018T>C (p.Leu340=)
c.943T>C (p.Leu315=)
 gnomAD v4
15g.40472231T>GCA391768645CHST14c.1018T>G (p.Leu340Val)
c.943T>G (p.Leu315Val)
15g.40472232T>ACA391768650CHST14c.1019T>A (p.Leu340Ter)
c.944T>A (p.Leu315Ter)
15g.40472232T>CCA391768652CHST14c.1019T>C (p.Leu340Ser)
c.944T>C (p.Leu315Ser)
 ClinVar
15g.40472232T>GCA391768647CHST14c.1019T>G (p.Leu340Trp)
c.944T>G (p.Leu315Trp)
15g.40472233G>ACA489975402CHST14c.1020G>A (p.Leu340=)
c.945G>A (p.Leu315=)
15g.40472233G>CCA391768657CHST14c.1020G>C (p.Leu340Phe)
c.945G>C (p.Leu315Phe)
 gnomAD v4
15g.40472233G>TCA391768660CHST14c.1020G>T (p.Leu340Phe)
c.945G>T (p.Leu315Phe)
 gnomAD v4
15g.40472234T>ACA391768663CHST14c.1021T>A (p.Cys341Ser)
c.946T>A (p.Cys316Ser)
15g.40472234T>CCA391768664CHST14c.1021T>C (p.Cys341Arg)
c.946T>C (p.Cys316Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.40472234T>GCA391768667CHST14c.1021T>G (p.Cys341Gly)
c.946T>G (p.Cys316Gly)
15g.40472234T=CA2171795449CHST14c.1021T= (p.Cys341=)
c.946T= (p.Cys316=)
15g.40472235G>ACA391768673CHST14c.1022G>A (p.Cys341Tyr)
c.947G>A (p.Cys316Tyr)
15g.40472235G>CCA391768669CHST14c.1022G>C (p.Cys341Ser)
c.947G>C (p.Cys316Ser)
15g.40472235G>TCA391768671CHST14c.1022G>T (p.Cys341Phe)
c.947G>T (p.Cys316Phe)
15g.40472235dupCA489975406CHST14c.1022dup (p.Cys341TrpfsTer14)
c.947dup (p.Cys316TrpfsTer14)
15g.40472236C>ACA391768675CHST14c.1023C>A (p.Cys341Ter)
c.948C>A (p.Cys316Ter)
15g.40472236C>GCA391768678CHST14c.1023C>G (p.Cys341Trp)
c.948C>G (p.Cys316Trp)
15g.40472236C>TCA489975409CHST14c.1023C>T (p.Cys341=)
c.948C>T (p.Cys316=)
15g.40472237A=CA2171795450CHST14c.1024A= (p.Ser342=)
c.949A= (p.Ser317=)
15g.40472237A>CCA391768680CHST14c.1024A>C (p.Ser342Arg)
c.949A>C (p.Ser317Arg)
15g.40472237A>GCA7481686CHST14c.1024A>G (p.Ser342Gly)
c.949A>G (p.Ser317Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472237A>TCA391768684CHST14c.1024A>T (p.Ser342Cys)
c.949A>T (p.Ser317Cys)
15g.40472238G>ACA391768688CHST14c.1025G>A (p.Ser342Asn)
c.950G>A (p.Ser317Asn)
15g.40472238G>CCA391768696CHST14c.1025G>C (p.Ser342Thr)
c.950G>C (p.Ser317Thr)
15g.40472238G>TCA391768694CHST14c.1025G>T (p.Ser342Ile)
c.950G>T (p.Ser317Ile)
15g.40472239T>ACA391768697CHST14c.1026T>A (p.Ser342Arg)
c.951T>A (p.Ser317Arg)
15g.40472239T>CCA489975410CHST14c.1026T>C (p.Ser342=)
c.951T>C (p.Ser317=)
 dbSNP gnomAD v2 gnomAD v4
15g.40472239T>GCA391768698CHST14c.1026T>G (p.Ser342Arg)
c.951T>G (p.Ser317Arg)
15g.40472239T=CA2171795451CHST14c.1026T= (p.Ser342=)
c.951T= (p.Ser317=)
15g.40472240G>ACA391768700CHST14c.1027G>A (p.Ala343Thr)
c.952G>A (p.Ala318Thr)
 gnomAD v4
15g.40472240G>CCA391768701CHST14c.1027G>C (p.Ala343Pro)
c.952G>C (p.Ala318Pro)
15g.40472240G>TCA391768703CHST14c.1027G>T (p.Ala343Ser)
c.952G>T (p.Ala318Ser)
15g.40472240_40472241delinsGCCA2171795452CHST14c.1027_1028delinsGC (p.Ala343=)
c.952_953delinsGC (p.Ala318=)
15g.40472241C>ACA391768705CHST14c.1028C>A (p.Ala343Asp)
c.953C>A (p.Ala318Asp)
15g.40472241C=CA2171795454CHST14c.1028C= (p.Ala343=)
c.953C= (p.Ala318=)
15g.40472241C>GCA7481688CHST14c.1028C>G (p.Ala343Gly)
c.953C>G (p.Ala318Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472241C>TCA391768708CHST14c.1028C>T (p.Ala343Val)
c.953C>T (p.Ala318Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472246dupCA7481687CHST14c.1033dup (p.Arg345ProfsTer10)
c.958dup (p.Arg320ProfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472246delCA2171795453CHST14c.1033del (p.Arg345GlyfsTer?)
c.958del (p.Arg320GlyfsTer?)
 ClinVar dbSNP gnomAD v4
15g.40472242C>ACA489975412CHST14c.1029C>A (p.Ala343=)
c.954C>A (p.Ala318=)
 gnomAD v4
15g.40472242C>GCA489975413CHST14c.1029C>G (p.Ala343=)
c.954C>G (p.Ala318=)
15g.40472242C>TCA489975414CHST14c.1029C>T (p.Ala343=)
c.954C>T (p.Ala318=)
 gnomAD v4
15g.40472243C>ACA391768710CHST14c.1030C>A (p.Pro344Thr)
c.955C>A (p.Pro319Thr)
15g.40472243C>GCA391768713CHST14c.1030C>G (p.Pro344Ala)
c.955C>G (p.Pro319Ala)
15g.40472243C>TCA391768715CHST14c.1030C>T (p.Pro344Ser)
c.955C>T (p.Pro319Ser)
 gnomAD v4
15g.40472244C>ACA391768719CHST14c.1031C>A (p.Pro344His)
c.956C>A (p.Pro319His)
15g.40472244C>GCA391768722CHST14c.1031C>G (p.Pro344Arg)
c.956C>G (p.Pro319Arg)
 gnomAD v4
15g.40472244C>TCA391768716CHST14c.1031C>T (p.Pro344Leu)
c.956C>T (p.Pro319Leu)
15g.40472245C>ACA489975420CHST14c.1032C>A (p.Pro344=)
c.957C>A (p.Pro319=)
15g.40472245C>GCA489975419CHST14c.1032C>G (p.Pro344=)
c.957C>G (p.Pro319=)
15g.40472245C>TCA489975418CHST14c.1032C>T (p.Pro344=)
c.957C>T (p.Pro319=)
15g.40472246C>ACA489975421CHST14c.1033C>A (p.Arg345=)
c.958C>A (p.Arg320=)
15g.40472246C=CA2171795455CHST14c.1033C= (p.Arg345=)
c.958C= (p.Arg320=)
15g.40472246C>GCA7481689CHST14c.1033C>G (p.Arg345Gly)
c.958C>G (p.Arg320Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472246C>TCA7481690CHST14c.1033C>T (p.Arg345Trp)
c.958C>T (p.Arg320Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472247G>ACA268823032CHST14c.1034G>A (p.Arg345Gln)
c.959G>A (p.Arg320Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472247G>CCA391768730CHST14c.1034G>C (p.Arg345Pro)
c.959G>C (p.Arg320Pro)
 dbSNP gnomAD v3 gnomAD v4
15g.40472247G=CA2171795456CHST14c.1034G= (p.Arg345=)
c.959G= (p.Arg320=)
15g.40472247G>TCA391768732CHST14c.1034G>T (p.Arg345Leu)
c.959G>T (p.Arg320Leu)
15g.40472249dupCA2627824992CHST14c.1036dup (p.Ala346GlyfsTer9)
c.961dup (p.Ala321GlyfsTer9)
 gnomAD v4
15g.40472248G>ACA489975425CHST14c.1035G>A (p.Arg345=)
c.960G>A (p.Arg320=)
 dbSNP
15g.40472248G>CCA489975426CHST14c.1035G>C (p.Arg345=)
c.960G>C (p.Arg320=)
15g.40472248G>TCA489975427CHST14c.1035G>T (p.Arg345=)
c.960G>T (p.Arg320=)
15g.40472249G>ACA391768733CHST14c.1036G>A (p.Ala346Thr)
c.961G>A (p.Ala321Thr)
 gnomAD v4
15g.40472249G>CCA7481691CHST14c.1036G>C (p.Ala346Pro)
c.961G>C (p.Ala321Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472249G=CA2171795457CHST14c.1036G= (p.Ala346=)
c.961G= (p.Ala321=)
15g.40472249G>TCA391768736CHST14c.1036G>T (p.Ala346Ser)
c.961G>T (p.Ala321Ser)
15g.40472250C>ACA391768739CHST14c.1037C>A (p.Ala346Asp)
c.962C>A (p.Ala321Asp)
15g.40472250C>GCA391768741CHST14c.1037C>G (p.Ala346Gly)
c.962C>G (p.Ala321Gly)
 gnomAD v4
15g.40472250C>TCA391768745CHST14c.1037C>T (p.Ala346Val)
c.962C>T (p.Ala321Val)
15g.40472251C>ACA268823035CHST14c.1038C>A (p.Ala346=)
c.963C>A (p.Ala321=)
 dbSNP
15g.40472251C=CA2171795458CHST14c.1038C= (p.Ala346=)
c.963C= (p.Ala321=)
15g.40472251C>GCA489975431CHST14c.1038C>G (p.Ala346=)
c.963C>G (p.Ala321=)
15g.40472251C>TCA489975429CHST14c.1038C>T (p.Ala346=)
c.963C>T (p.Ala321=)
 ClinVar
15g.40472252C>ACA391768747CHST14c.1039C>A (p.Leu347Met)
c.964C>A (p.Leu322Met)
15g.40472252C>GCA391768748CHST14c.1039C>G (p.Leu347Val)
c.964C>G (p.Leu322Val)
15g.40472252C>TCA489975434CHST14c.1039C>T (p.Leu347=)
c.964C>T (p.Leu322=)
15g.40472253T>ACA391768751CHST14c.1040T>A (p.Leu347Gln)
c.965T>A (p.Leu322Gln)
15g.40472253T>CCA391768753CHST14c.1040T>C (p.Leu347Pro)
c.965T>C (p.Leu322Pro)
 gnomAD v4
15g.40472253T>GCA391768749CHST14c.1040T>G (p.Leu347Arg)
c.965T>G (p.Leu322Arg)
15g.40472254G>ACA489975435CHST14c.1041G>A (p.Leu347=)
c.966G>A (p.Leu322=)
 gnomAD v4
15g.40472254G>CCA489975436CHST14c.1041G>C (p.Leu347=)
c.966G>C (p.Leu322=)
 gnomAD v4
15g.40472254G>TCA489975438CHST14c.1041G>T (p.Leu347=)
c.966G>T (p.Leu322=)

Number of alleles fetched