Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.81935023A=CA2278749813PYCR1c.443T= (p.Leu148=)
c.524T= (p.Leu175=)
c.260T= (p.Leu87=)
c.353T= (p.Leu118=)
c.404T= (p.Leu135=)
17g.81935023A>CCA401538623PYCR1c.443T>G (p.Leu148Arg)
c.524T>G (p.Leu175Arg)
c.260T>G (p.Leu87Arg)
c.353T>G (p.Leu118Arg)
c.404T>G (p.Leu135Arg)
 gnomAD v4
17g.81935023A>GCA401538626PYCR1c.443T>C (p.Leu148Pro)
c.524T>C (p.Leu175Pro)
c.260T>C (p.Leu87Pro)
c.353T>C (p.Leu118Pro)
c.404T>C (p.Leu135Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.81935023A>TCA401538629PYCR1c.443T>A (p.Leu148His)
c.524T>A (p.Leu175His)
c.260T>A (p.Leu87His)
c.353T>A (p.Leu118His)
c.404T>A (p.Leu135His)
17g.81935024G>ACA8845441PYCR1c.442C>T (p.Leu148Phe)
c.523C>T (p.Leu175Phe)
c.259C>T (p.Leu87Phe)
c.352C>T (p.Leu118Phe)
c.403C>T (p.Leu135Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935024G>CCA401538640PYCR1c.442C>G (p.Leu148Val)
c.523C>G (p.Leu175Val)
c.259C>G (p.Leu87Val)
c.352C>G (p.Leu118Val)
c.403C>G (p.Leu135Val)
17g.81935024G=CA2278749814PYCR1c.442C= (p.Leu148=)
c.523C= (p.Leu175=)
c.259C= (p.Leu87=)
c.352C= (p.Leu118=)
c.403C= (p.Leu135=)
17g.81935024G>TCA401538641PYCR1c.442C>A (p.Leu148Ile)
c.523C>A (p.Leu175Ile)
c.259C>A (p.Leu87Ile)
c.352C>A (p.Leu118Ile)
c.403C>A (p.Leu135Ile)
 gnomAD v4
17g.81935025C>ACA401538650PYCR1c.441G>T (p.Arg147Ser)
c.522G>T (p.Arg174Ser)
c.258G>T (p.Arg86Ser)
c.351G>T (p.Arg117Ser)
c.402G>T (p.Arg134Ser)
 gnomAD v4
17g.81935025C=CA2278749815PYCR1c.441G= (p.Arg147=)
c.522G= (p.Arg174=)
c.258G= (p.Arg86=)
c.351G= (p.Arg117=)
c.402G= (p.Arg134=)
17g.81935025C>GCA401538655PYCR1c.441G>C (p.Arg147Ser)
c.522G>C (p.Arg174Ser)
c.258G>C (p.Arg86Ser)
c.351G>C (p.Arg117Ser)
c.402G>C (p.Arg134Ser)
 gnomAD v4
17g.81935025C>TCA295137763PYCR1c.441G>A (p.Arg147=)
c.522G>A (p.Arg174=)
c.258G>A (p.Arg86=)
c.351G>A (p.Arg117=)
c.402G>A (p.Arg134=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935026C>ACA401538661PYCR1c.440G>T (p.Arg147Met)
c.521G>T (p.Arg174Met)
c.257G>T (p.Arg86Met)
c.350G>T (p.Arg117Met)
c.401G>T (p.Arg134Met)
17g.81935026C=CA2278749816PYCR1c.440G= (p.Arg147=)
c.521G= (p.Arg174=)
c.257G= (p.Arg86=)
c.350G= (p.Arg117=)
c.401G= (p.Arg134=)
17g.81935026C>GCA401538664PYCR1c.440G>C (p.Arg147Thr)
c.521G>C (p.Arg174Thr)
c.257G>C (p.Arg86Thr)
c.350G>C (p.Arg117Thr)
c.401G>C (p.Arg134Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935026C>TCA401538665PYCR1c.440G>A (p.Arg147Lys)
c.521G>A (p.Arg174Lys)
c.257G>A (p.Arg86Lys)
c.350G>A (p.Arg117Lys)
c.401G>A (p.Arg134Lys)
17g.81935027T>ACA401538672PYCR1c.439A>T (p.Arg147Trp)
c.520A>T (p.Arg174Trp)
c.256A>T (p.Arg86Trp)
c.349A>T (p.Arg117Trp)
c.400A>T (p.Arg134Trp)
17g.81935027T>CCA401538669PYCR1c.439A>G (p.Arg147Gly)
c.520A>G (p.Arg174Gly)
c.256A>G (p.Arg86Gly)
c.349A>G (p.Arg117Gly)
c.400A>G (p.Arg134Gly)
17g.81935027T>GCA502426490PYCR1c.439A>C (p.Arg147=)
c.520A>C (p.Arg174=)
c.256A>C (p.Arg86=)
c.349A>C (p.Arg117=)
c.400A>C (p.Arg134=)
17g.81935028C>ACA502426492PYCR1c.438G>T (p.Gly146=)
c.519G>T (p.Gly173=)
c.255G>T (p.Gly85=)
c.348G>T (p.Gly116=)
c.399G>T (p.Gly133=)
17g.81935028C>GCA502426493PYCR1c.438G>C (p.Gly146=)
c.519G>C (p.Gly173=)
c.255G>C (p.Gly85=)
c.348G>C (p.Gly116=)
c.399G>C (p.Gly133=)
17g.81935028C>TCA502426494PYCR1c.438G>A (p.Gly146=)
c.519G>A (p.Gly173=)
c.255G>A (p.Gly85=)
c.348G>A (p.Gly116=)
c.399G>A (p.Gly133=)
 dbSNP
17g.81935029C>ACA401538674PYCR1c.437G>T (p.Gly146Val)
c.518G>T (p.Gly173Val)
c.254G>T (p.Gly85Val)
c.347G>T (p.Gly116Val)
c.398G>T (p.Gly133Val)
17g.81935029C>GCA401538683PYCR1c.437G>C (p.Gly146Ala)
c.518G>C (p.Gly173Ala)
c.254G>C (p.Gly85Ala)
c.347G>C (p.Gly116Ala)
c.398G>C (p.Gly133Ala)
17g.81935029C>TCA401538681PYCR1c.437G>A (p.Gly146Glu)
c.518G>A (p.Gly173Glu)
c.254G>A (p.Gly85Glu)
c.347G>A (p.Gly116Glu)
c.398G>A (p.Gly133Glu)
17g.81935030C>ACA8845442PYCR1c.436G>T (p.Gly146Trp)
c.517G>T (p.Gly173Trp)
c.253G>T (p.Gly85Trp)
c.346G>T (p.Gly116Trp)
c.397G>T (p.Gly133Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935030C=CA2278749817PYCR1c.436G= (p.Gly146=)
c.517G= (p.Gly173=)
c.253G= (p.Gly85=)
c.346G= (p.Gly116=)
c.397G= (p.Gly133=)
17g.81935030C>GCA401538689PYCR1c.436G>C (p.Gly146Arg)
c.517G>C (p.Gly173Arg)
c.253G>C (p.Gly85Arg)
c.346G>C (p.Gly116Arg)
c.397G>C (p.Gly133Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.81935030C>TCA295137765PYCR1c.436G>A (p.Gly146Arg)
c.517G>A (p.Gly173Arg)
c.253G>A (p.Gly85Arg)
c.346G>A (p.Gly116Arg)
c.397G>A (p.Gly133Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81935031G>ACA8845443PYCR1c.435C>T (p.Asp145=)
c.516C>T (p.Asp172=)
c.252C>T (p.Asp84=)
c.345C>T (p.Asp115=)
c.396C>T (p.Asp132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.81935031G>CCA401538692PYCR1c.435C>G (p.Asp145Glu)
c.516C>G (p.Asp172Glu)
c.252C>G (p.Asp84Glu)
c.345C>G (p.Asp115Glu)
c.396C>G (p.Asp132Glu)
17g.81935031G=CA2278749818PYCR1c.435C= (p.Asp145=)
c.516C= (p.Asp172=)
c.252C= (p.Asp84=)
c.345C= (p.Asp115=)
c.396C= (p.Asp132=)
17g.81935031G>TCA401538695PYCR1c.435C>A (p.Asp145Glu)
c.516C>A (p.Asp172Glu)
c.252C>A (p.Asp84Glu)
c.345C>A (p.Asp115Glu)
c.396C>A (p.Asp132Glu)
17g.81935032T>ACA8845444PYCR1c.434A>T (p.Asp145Val)
c.515A>T (p.Asp172Val)
c.251A>T (p.Asp84Val)
c.344A>T (p.Asp115Val)
c.395A>T (p.Asp132Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935032T>CCA401538698PYCR1c.434A>G (p.Asp145Gly)
c.515A>G (p.Asp172Gly)
c.251A>G (p.Asp84Gly)
c.344A>G (p.Asp115Gly)
c.395A>G (p.Asp132Gly)
 ClinVar dbSNP
17g.81935032T>GCA401538699PYCR1c.434A>C (p.Asp145Ala)
c.515A>C (p.Asp172Ala)
c.251A>C (p.Asp84Ala)
c.344A>C (p.Asp115Ala)
c.395A>C (p.Asp132Ala)
17g.81935032T=CA2278749819PYCR1c.434A= (p.Asp145=)
c.515A= (p.Asp172=)
c.251A= (p.Asp84=)
c.344A= (p.Asp115=)
c.395A= (p.Asp132=)
17g.81935033C>ACA401538700PYCR1c.433G>T (p.Asp145Tyr)
c.514G>T (p.Asp172Tyr)
c.250G>T (p.Asp84Tyr)
c.343G>T (p.Asp115Tyr)
c.394G>T (p.Asp132Tyr)
 gnomAD v4
17g.81935033C=CA2278749820PYCR1c.433G= (p.Asp145=)
c.514G= (p.Asp172=)
c.250G= (p.Asp84=)
c.343G= (p.Asp115=)
c.394G= (p.Asp132=)
17g.81935033C>GCA401538703PYCR1c.433G>C (p.Asp145His)
c.514G>C (p.Asp172His)
c.250G>C (p.Asp84His)
c.343G>C (p.Asp115His)
c.394G>C (p.Asp132His)
17g.81935033C>TCA8845445PYCR1c.433G>A (p.Asp145Asn)
c.514G>A (p.Asp172Asn)
c.250G>A (p.Asp84Asn)
c.343G>A (p.Asp115Asn)
c.394G>A (p.Asp132Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935034C>ACA401538706PYCR1c.432G>T (p.Glu144Asp)
c.513G>T (p.Glu171Asp)
c.249G>T (p.Glu83Asp)
c.342G>T (p.Glu114Asp)
c.393G>T (p.Glu131Asp)
17g.81935034C=CA2278749821PYCR1c.432G= (p.Glu144=)
c.513G= (p.Glu171=)
c.249G= (p.Glu83=)
c.342G= (p.Glu114=)
c.393G= (p.Glu131=)
17g.81935034C>GCA401538707PYCR1c.432G>C (p.Glu144Asp)
c.513G>C (p.Glu171Asp)
c.249G>C (p.Glu83Asp)
c.342G>C (p.Glu114Asp)
c.393G>C (p.Glu131Asp)
17g.81935034C>TCA502426503PYCR1c.432G>A (p.Glu144=)
c.513G>A (p.Glu171=)
c.249G>A (p.Glu83=)
c.342G>A (p.Glu114=)
c.393G>A (p.Glu131=)
 ClinVar dbSNP gnomAD v4
17g.81935035T>ACA401538708PYCR1c.431A>T (p.Glu144Val)
c.512A>T (p.Glu171Val)
c.248A>T (p.Glu83Val)
c.341A>T (p.Glu114Val)
c.392A>T (p.Glu131Val)
 dbSNP
17g.81935035T>CCA401538709PYCR1c.431A>G (p.Glu144Gly)
c.512A>G (p.Glu171Gly)
c.248A>G (p.Glu83Gly)
c.341A>G (p.Glu114Gly)
c.392A>G (p.Glu131Gly)
 ClinVar dbSNP
17g.81935035T>GCA401538711PYCR1c.431A>C (p.Glu144Ala)
c.512A>C (p.Glu171Ala)
c.248A>C (p.Glu83Ala)
c.341A>C (p.Glu114Ala)
c.392A>C (p.Glu131Ala)
17g.81935035T=CA2278749822PYCR1c.431A= (p.Glu144=)
c.512A= (p.Glu171=)
c.248A= (p.Glu83=)
c.341A= (p.Glu114=)
c.392A= (p.Glu131=)
17g.81935035_81935036delinsTCCA2278749823PYCR1c.430_431delinsGA (p.Glu144=)
c.511_512delinsGA (p.Glu171=)
c.247_248delinsGA (p.Glu83=)
c.340_341delinsGA (p.Glu114=)
c.391_392delinsGA (p.Glu131=)
17g.81935036C>ACA401538712PYCR1c.430G>T (p.Glu144Ter)
c.511G>T (p.Glu171Ter)
c.247G>T (p.Glu83Ter)
c.340G>T (p.Glu114Ter)
c.391G>T (p.Glu131Ter)
17g.81935036C>GCA401538713PYCR1c.430G>C (p.Glu144Gln)
c.511G>C (p.Glu171Gln)
c.247G>C (p.Glu83Gln)
c.340G>C (p.Glu114Gln)
c.391G>C (p.Glu131Gln)
17g.81935036C>TCA401538714PYCR1c.430G>A (p.Glu144Lys)
c.511G>A (p.Glu171Lys)
c.247G>A (p.Glu83Lys)
c.340G>A (p.Glu114Lys)
c.391G>A (p.Glu131Lys)
17g.81935037delCA2278749824PYCR1c.430del (p.Glu144ArgfsTer10)
c.511del (p.Glu171ArgfsTer10)
c.247del (p.Glu83ArgfsTer10)
c.340del (p.Glu114ArgfsTer10)
c.391del (p.Glu131ArgfsTer10)
 dbSNP
17g.81935037C>ACA8845446PYCR1c.429G>T (p.Val143=)
c.510G>T (p.Val170=)
c.246G>T (p.Val82=)
c.339G>T (p.Val113=)
c.390G>T (p.Val130=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935037C=CA2278749825PYCR1c.429G= (p.Val143=)
c.510G= (p.Val170=)
c.246G= (p.Val82=)
c.339G= (p.Val113=)
c.390G= (p.Val130=)
17g.81935037C>GCA502426510PYCR1c.429G>C (p.Val143=)
c.510G>C (p.Val170=)
c.246G>C (p.Val82=)
c.339G>C (p.Val113=)
c.390G>C (p.Val130=)
17g.81935037C>TCA502426511PYCR1c.429G>A (p.Val143=)
c.510G>A (p.Val170=)
c.246G>A (p.Val82=)
c.339G>A (p.Val113=)
c.390G>A (p.Val130=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935038A>CCA401538715PYCR1c.428T>G (p.Val143Gly)
c.509T>G (p.Val170Gly)
c.245T>G (p.Val82Gly)
c.338T>G (p.Val113Gly)
c.389T>G (p.Val130Gly)
17g.81935038A>GCA401538717PYCR1c.428T>C (p.Val143Ala)
c.509T>C (p.Val170Ala)
c.245T>C (p.Val82Ala)
c.338T>C (p.Val113Ala)
c.389T>C (p.Val130Ala)
17g.81935038A>TCA401538718PYCR1c.428T>A (p.Val143Glu)
c.509T>A (p.Val170Glu)
c.245T>A (p.Val82Glu)
c.338T>A (p.Val113Glu)
c.389T>A (p.Val130Glu)
17g.81935039C>ACA401538721PYCR1c.427G>T (p.Val143Leu)
c.508G>T (p.Val170Leu)
c.244G>T (p.Val82Leu)
c.337G>T (p.Val113Leu)
c.388G>T (p.Val130Leu)
17g.81935039C=CA2278749826PYCR1c.427G= (p.Val143=)
c.508G= (p.Val170=)
c.244G= (p.Val82=)
c.337G= (p.Val113=)
c.388G= (p.Val130=)
17g.81935039C>GCA401538724PYCR1c.427G>C (p.Val143Leu)
c.508G>C (p.Val170Leu)
c.244G>C (p.Val82Leu)
c.337G>C (p.Val113Leu)
c.388G>C (p.Val130Leu)
17g.81935039C>TCA401538725PYCR1c.427G>A (p.Val143Met)
c.508G>A (p.Val170Met)
c.244G>A (p.Val82Met)
c.337G>A (p.Val113Met)
c.388G>A (p.Val130Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81935040C>ACA401538731PYCR1c.426G>T (p.Gln142His)
c.507G>T (p.Gln169His)
c.243G>T (p.Gln81His)
c.336G>T (p.Gln112His)
c.387G>T (p.Gln129His)
17g.81935040C=CA2278749827PYCR1c.426G= (p.Gln142=)
c.507G= (p.Gln169=)
c.243G= (p.Gln81=)
c.336G= (p.Gln112=)
c.387G= (p.Gln129=)
17g.81935040C>GCA401538728PYCR1c.426G>C (p.Gln142His)
c.507G>C (p.Gln169His)
c.243G>C (p.Gln81His)
c.336G>C (p.Gln112His)
c.387G>C (p.Gln129His)
17g.81935040C>TCA502426517PYCR1c.426G>A (p.Gln142=)
c.507G>A (p.Gln169=)
c.243G>A (p.Gln81=)
c.336G>A (p.Gln112=)
c.387G>A (p.Gln129=)
 dbSNP
17g.81935041T>ACA8845447PYCR1c.425A>T (p.Gln142Leu)
c.506A>T (p.Gln169Leu)
c.242A>T (p.Gln81Leu)
c.335A>T (p.Gln112Leu)
c.386A>T (p.Gln129Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935041T>CCA401538734PYCR1c.425A>G (p.Gln142Arg)
c.506A>G (p.Gln169Arg)
c.242A>G (p.Gln81Arg)
c.335A>G (p.Gln112Arg)
c.386A>G (p.Gln129Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935041T>GCA401538733PYCR1c.425A>C (p.Gln142Pro)
c.506A>C (p.Gln169Pro)
c.242A>C (p.Gln81Pro)
c.335A>C (p.Gln112Pro)
c.386A>C (p.Gln129Pro)
 COSMIC COSMIC
17g.81935041T=CA2278749828PYCR1c.425A= (p.Gln142=)
c.506A= (p.Gln169=)
c.242A= (p.Gln81=)
c.335A= (p.Gln112=)
c.386A= (p.Gln129=)
17g.81935042G>ACA401538735PYCR1c.424C>T (p.Gln142Ter)
c.505C>T (p.Gln169Ter)
c.241C>T (p.Gln81Ter)
c.334C>T (p.Gln112Ter)
c.385C>T (p.Gln129Ter)
 ClinVar dbSNP gnomAD v4
17g.81935042G>CCA401538737PYCR1c.424C>G (p.Gln142Glu)
c.505C>G (p.Gln169Glu)
c.241C>G (p.Gln81Glu)
c.334C>G (p.Gln112Glu)
c.385C>G (p.Gln129Glu)
17g.81935042G=CA2278749829PYCR1c.424C= (p.Gln142=)
c.505C= (p.Gln169=)
c.241C= (p.Gln81=)
c.334C= (p.Gln112=)
c.385C= (p.Gln129=)
17g.81935042G>TCA401538736PYCR1c.424C>A (p.Gln142Lys)
c.505C>A (p.Gln169Lys)
c.241C>A (p.Gln81Lys)
c.334C>A (p.Gln112Lys)
c.385C>A (p.Gln129Lys)
17g.81935043G>ACA502426519PYCR1c.423C>T (p.Ala141=)
c.504C>T (p.Ala168=)
c.240C>T (p.Ala80=)
c.333C>T (p.Ala111=)
c.384C>T (p.Ala128=)
17g.81935043G>CCA502426520PYCR1c.423C>G (p.Ala141=)
c.504C>G (p.Ala168=)
c.240C>G (p.Ala80=)
c.333C>G (p.Ala111=)
c.384C>G (p.Ala128=)
17g.81935043G>TCA502426521PYCR1c.423C>A (p.Ala141=)
c.504C>A (p.Ala168=)
c.240C>A (p.Ala80=)
c.333C>A (p.Ala111=)
c.384C>A (p.Ala128=)
 gnomAD v4
17g.81935044G>ACA401538739PYCR1c.422C>T (p.Ala141Val)
c.503C>T (p.Ala168Val)
c.239C>T (p.Ala80Val)
c.332C>T (p.Ala111Val)
c.383C>T (p.Ala128Val)
17g.81935044G>CCA401538740PYCR1c.422C>G (p.Ala141Gly)
c.503C>G (p.Ala168Gly)
c.239C>G (p.Ala80Gly)
c.332C>G (p.Ala111Gly)
c.383C>G (p.Ala128Gly)
17g.81935044G>TCA401538742PYCR1c.422C>A (p.Ala141Asp)
c.503C>A (p.Ala168Asp)
c.239C>A (p.Ala80Asp)
c.332C>A (p.Ala111Asp)
c.383C>A (p.Ala128Asp)
17g.81935045C>ACA401538745PYCR1c.421G>T (p.Ala141Ser)
c.502G>T (p.Ala168Ser)
c.238G>T (p.Ala80Ser)
c.331G>T (p.Ala111Ser)
c.382G>T (p.Ala128Ser)
17g.81935045C=CA2278749830PYCR1c.421G= (p.Ala141=)
c.502G= (p.Ala168=)
c.238G= (p.Ala80=)
c.331G= (p.Ala111=)
c.382G= (p.Ala128=)
17g.81935045C>GCA401538747PYCR1c.421G>C (p.Ala141Pro)
c.502G>C (p.Ala168Pro)
c.238G>C (p.Ala80Pro)
c.331G>C (p.Ala111Pro)
c.382G>C (p.Ala128Pro)
17g.81935045C>TCA401538750PYCR1c.421G>A (p.Ala141Thr)
c.502G>A (p.Ala168Thr)
c.238G>A (p.Ala80Thr)
c.331G>A (p.Ala111Thr)
c.382G>A (p.Ala128Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935046G>ACA8845448PYCR1c.420C>T (p.His140=)
c.501C>T (p.His167=)
c.237C>T (p.His79=)
c.330C>T (p.His110=)
c.381C>T (p.His127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935046G>CCA401538754PYCR1c.420C>G (p.His140Gln)
c.501C>G (p.His167Gln)
c.237C>G (p.His79Gln)
c.330C>G (p.His110Gln)
c.381C>G (p.His127Gln)
17g.81935046G=CA2278749831PYCR1c.420C= (p.His140=)
c.501C= (p.His167=)
c.237C= (p.His79=)
c.330C= (p.His110=)
c.381C= (p.His127=)
17g.81935046G>TCA401538757PYCR1c.420C>A (p.His140Gln)
c.501C>A (p.His167Gln)
c.237C>A (p.His79Gln)
c.330C>A (p.His110Gln)
c.381C>A (p.His127Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.81935047T>ACA401538758PYCR1c.419A>T (p.His140Leu)
c.500A>T (p.His167Leu)
c.236A>T (p.His79Leu)
c.329A>T (p.His110Leu)
c.380A>T (p.His127Leu)
17g.81935047T>CCA401538759PYCR1c.419A>G (p.His140Arg)
c.500A>G (p.His167Arg)
c.236A>G (p.His79Arg)
c.329A>G (p.His110Arg)
c.380A>G (p.His127Arg)
17g.81935047T>GCA401538761PYCR1c.419A>C (p.His140Pro)
c.500A>C (p.His167Pro)
c.236A>C (p.His79Pro)
c.329A>C (p.His110Pro)
c.380A>C (p.His127Pro)
17g.81935048G>ACA401538767PYCR1c.418C>T (p.His140Tyr)
c.499C>T (p.His167Tyr)
c.235C>T (p.His79Tyr)
c.328C>T
c.328C>T (p.His110Tyr)
c.379C>T (p.His127Tyr)
17g.81935048G>CCA8845449PYCR1c.418C>G (p.His140Asp)
c.499C>G (p.His167Asp)
c.235C>G (p.His79Asp)
c.328C>G
c.328C>G (p.His110Asp)
c.379C>G (p.His127Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935048G=CA2278749832PYCR1c.418C= (p.His140=)
c.499C= (p.His167=)
c.235C= (p.His79=)
c.328C=
c.328C= (p.His110=)
c.379C= (p.His127=)
17g.81935048G>TCA401538764PYCR1c.418C>A (p.His140Asn)
c.499C>A (p.His167Asn)
c.235C>A (p.His79Asn)
c.328C>A
c.328C>A (p.His110Asn)
c.379C>A (p.His127Asn)
 gnomAD v4
17g.81935049C>ACA502426524PYCR1c.417G>T (p.Thr139=)
c.498G>T (p.Thr166=)
c.234G>T (p.Thr78=)
c.327G>T (p.Thr109=)
c.378G>T (p.Thr126=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.81935049C=CA2278749833PYCR1c.417G= (p.Thr139=)
c.498G= (p.Thr166=)
c.234G= (p.Thr78=)
c.327G= (p.Thr109=)
c.378G= (p.Thr126=)
17g.81935049C>GCA295137790PYCR1c.417G>C (p.Thr139=)
c.498G>C (p.Thr166=)
c.234G>C (p.Thr78=)
c.327G>C (p.Thr109=)
c.378G>C (p.Thr126=)
 dbSNP gnomAD v3 gnomAD v4
17g.81935049C>TCA8845450PYCR1c.417G>A (p.Thr139=)
c.498G>A (p.Thr166=)
c.234G>A (p.Thr78=)
c.327G>A (p.Thr109=)
c.378G>A (p.Thr126=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935050G>ACA8845451PYCR1c.416C>T (p.Thr139Met)
c.497C>T (p.Thr166Met)
c.233C>T (p.Thr78Met)
c.326C>T (p.Thr109Met)
c.377C>T (p.Thr126Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935050G>CCA401538772PYCR1c.416C>G (p.Thr139Arg)
c.497C>G (p.Thr166Arg)
c.233C>G (p.Thr78Arg)
c.326C>G (p.Thr109Arg)
c.377C>G (p.Thr126Arg)
17g.81935050G=CA2278749834PYCR1c.416C= (p.Thr139=)
c.497C= (p.Thr166=)
c.233C= (p.Thr78=)
c.326C= (p.Thr109=)
c.377C= (p.Thr126=)
17g.81935050G>TCA401538775PYCR1c.416C>A (p.Thr139Lys)
c.497C>A (p.Thr166Lys)
c.233C>A (p.Thr78Lys)
c.326C>A (p.Thr109Lys)
c.377C>A (p.Thr126Lys)
 gnomAD v4
17g.81935051T>ACA401538776PYCR1c.415A>T (p.Thr139Ser)
c.496A>T (p.Thr166Ser)
c.232A>T (p.Thr78Ser)
c.325A>T (p.Thr109Ser)
c.376A>T (p.Thr126Ser)
17g.81935051T>CCA401538778PYCR1c.415A>G (p.Thr139Ala)
c.496A>G (p.Thr166Ala)
c.232A>G (p.Thr78Ala)
c.325A>G (p.Thr109Ala)
c.376A>G (p.Thr126Ala)
 dbSNP
17g.81935051T>GCA401538780PYCR1c.415A>C (p.Thr139Pro)
c.496A>C (p.Thr166Pro)
c.232A>C (p.Thr78Pro)
c.325A>C (p.Thr109Pro)
c.376A>C (p.Thr126Pro)
17g.81935051T=CA2278749835PYCR1c.415A= (p.Thr139=)
c.496A= (p.Thr166=)
c.232A= (p.Thr78=)
c.325A= (p.Thr109=)
c.376A= (p.Thr126=)
17g.81935052G>ACA502426529PYCR1c.414C>T (p.Gly138=)
c.495C>T (p.Gly165=)
c.231C>T (p.Gly77=)
c.324C>T (p.Gly108=)
c.375C>T (p.Gly125=)
17g.81935052G>CCA502426530PYCR1c.414C>G (p.Gly138=)
c.495C>G (p.Gly165=)
c.231C>G (p.Gly77=)
c.324C>G (p.Gly108=)
c.375C>G (p.Gly125=)
17g.81935052G>TCA502426531PYCR1c.414C>A (p.Gly138=)
c.495C>A (p.Gly165=)
c.231C>A (p.Gly77=)
c.324C>A (p.Gly108=)
c.375C>A (p.Gly125=)
17g.81935053C>ACA401538782PYCR1c.413G>T (p.Gly138Val)
c.494G>T (p.Gly165Val)
c.230G>T (p.Gly77Val)
c.323G>T (p.Gly108Val)
c.374G>T (p.Gly125Val)
17g.81935053C=CA2278749836PYCR1c.413G= (p.Gly138=)
c.494G= (p.Gly165=)
c.230G= (p.Gly77=)
c.323G= (p.Gly108=)
c.374G= (p.Gly125=)
17g.81935053C>GCA401538783PYCR1c.413G>C (p.Gly138Ala)
c.494G>C (p.Gly165Ala)
c.230G>C (p.Gly77Ala)
c.323G>C (p.Gly108Ala)
c.374G>C (p.Gly125Ala)
17g.81935053C>TCA401538786PYCR1c.413G>A (p.Gly138Asp)
c.494G>A (p.Gly165Asp)
c.230G>A (p.Gly77Asp)
c.323G>A (p.Gly108Asp)
c.374G>A (p.Gly125Asp)
 dbSNP gnomAD v2
17g.81935054C>ACA401538791PYCR1c.412G>T (p.Gly138Cys)
c.493G>T (p.Gly165Cys)
c.229G>T (p.Gly77Cys)
c.322G>T (p.Gly108Cys)
c.373G>T (p.Gly125Cys)
 gnomAD v4
17g.81935054C=CA2278749837PYCR1c.412G= (p.Gly138=)
c.493G= (p.Gly165=)
c.229G= (p.Gly77=)
c.322G= (p.Gly108=)
c.373G= (p.Gly125=)
17g.81935054C>GCA401538790PYCR1c.412G>C (p.Gly138Arg)
c.493G>C (p.Gly165Arg)
c.229G>C (p.Gly77Arg)
c.322G>C (p.Gly108Arg)
c.373G>C (p.Gly125Arg)
17g.81935054C>TCA401538788PYCR1c.412G>A (p.Gly138Ser)
c.493G>A (p.Gly165Ser)
c.229G>A (p.Gly77Ser)
c.322G>A (p.Gly108Ser)
c.373G>A (p.Gly125Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.81935055T>ACA502426538PYCR1c.411A>T (p.Thr137=)
c.492A>T (p.Thr164=)
c.228A>T (p.Thr76=)
c.321A>T (p.Thr107=)
c.372A>T (p.Thr124=)
17g.81935055T>CCA502426537PYCR1c.411A>G (p.Thr137=)
c.492A>G (p.Thr164=)
c.228A>G (p.Thr76=)
c.321A>G (p.Thr107=)
c.372A>G (p.Thr124=)
 dbSNP gnomAD v2 gnomAD v4
17g.81935055T>GCA502426536PYCR1c.411A>C (p.Thr137=)
c.492A>C (p.Thr164=)
c.228A>C (p.Thr76=)
c.321A>C (p.Thr107=)
c.372A>C (p.Thr124=)
 dbSNP
17g.81935055T=CA2278749838PYCR1c.411A= (p.Thr137=)
c.492A= (p.Thr164=)
c.228A= (p.Thr76=)
c.321A= (p.Thr107=)
c.372A= (p.Thr124=)
17g.81935056G>ACA401538793PYCR1c.410C>T (p.Thr137Ile)
c.491C>T (p.Thr164Ile)
c.227C>T (p.Thr76Ile)
c.320C>T (p.Thr107Ile)
c.371C>T (p.Thr124Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81935056G>CCA401538794PYCR1c.410C>G (p.Thr137Arg)
c.491C>G (p.Thr164Arg)
c.227C>G (p.Thr76Arg)
c.320C>G (p.Thr107Arg)
c.371C>G (p.Thr124Arg)
 gnomAD v4
17g.81935056G=CA2278749839PYCR1c.410C= (p.Thr137=)
c.491C= (p.Thr164=)
c.227C= (p.Thr76=)
c.320C= (p.Thr107=)
c.371C= (p.Thr124=)
17g.81935056G>TCA401538797PYCR1c.410C>A (p.Thr137Lys)
c.491C>A (p.Thr164Lys)
c.227C>A (p.Thr76Lys)
c.320C>A (p.Thr107Lys)
c.371C>A (p.Thr124Lys)
17g.81935057T>ACA401538798PYCR1c.409A>T (p.Thr137Ser)
c.490A>T (p.Thr164Ser)
c.226A>T (p.Thr76Ser)
c.319A>T (p.Thr107Ser)
c.370A>T (p.Thr124Ser)
17g.81935057T>CCA401538800PYCR1c.409A>G (p.Thr137Ala)
c.490A>G (p.Thr164Ala)
c.226A>G (p.Thr76Ala)
c.319A>G (p.Thr107Ala)
c.370A>G (p.Thr124Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81935057T>GCA401538801PYCR1c.409A>C (p.Thr137Pro)
c.490A>C (p.Thr164Pro)
c.226A>C (p.Thr76Pro)
c.319A>C (p.Thr107Pro)
c.370A>C (p.Thr124Pro)
17g.81935057T=CA2278749840PYCR1c.409A= (p.Thr137=)
c.490A= (p.Thr164=)
c.226A= (p.Thr76=)
c.319A= (p.Thr107=)
c.370A= (p.Thr124=)
17g.81935058G>ACA502426541PYCR1c.408C>T (p.Ala136=)
c.489C>T (p.Ala163=)
c.225C>T (p.Ala75=)
c.318C>T (p.Ala106=)
c.369C>T (p.Ala123=)
17g.81935058G>CCA502426542PYCR1c.408C>G (p.Ala136=)
c.489C>G (p.Ala163=)
c.225C>G (p.Ala75=)
c.318C>G (p.Ala106=)
c.369C>G (p.Ala123=)
17g.81935058G>TCA502426543PYCR1c.408C>A (p.Ala136=)
c.489C>A (p.Ala163=)
c.225C>A (p.Ala75=)
c.318C>A (p.Ala106=)
c.369C>A (p.Ala123=)
 gnomAD v4
17g.81935059G>ACA401538803PYCR1c.407C>T (p.Ala136Val)
c.488C>T (p.Ala163Val)
c.224C>T (p.Ala75Val)
c.317C>T (p.Ala106Val)
c.368C>T (p.Ala123Val)
 gnomAD v4
17g.81935059G>CCA401538805PYCR1c.407C>G (p.Ala136Gly)
c.488C>G (p.Ala163Gly)
c.224C>G (p.Ala75Gly)
c.317C>G (p.Ala106Gly)
c.368C>G (p.Ala123Gly)
17g.81935059G>TCA401538806PYCR1c.407C>A (p.Ala136Asp)
c.488C>A (p.Ala163Asp)
c.224C>A (p.Ala75Asp)
c.317C>A (p.Ala106Asp)
c.368C>A (p.Ala123Asp)
 gnomAD v4
17g.81935060C>ACA401538809PYCR1c.406G>T (p.Ala136Ser)
c.487G>T (p.Ala163Ser)
c.223G>T (p.Ala75Ser)
c.316G>T (p.Ala106Ser)
c.367G>T (p.Ala123Ser)
 gnomAD v4
17g.81935060C=CA2278749841PYCR1c.406G= (p.Ala136=)
c.487G= (p.Ala163=)
c.223G= (p.Ala75=)
c.316G= (p.Ala106=)
c.367G= (p.Ala123=)
17g.81935060C>GCA401538811PYCR1c.406G>C (p.Ala136Pro)
c.487G>C (p.Ala163Pro)
c.223G>C (p.Ala75Pro)
c.316G>C (p.Ala106Pro)
c.367G>C (p.Ala123Pro)
17g.81935060C>TCA401538813PYCR1c.406G>A (p.Ala136Thr)
c.487G>A (p.Ala163Thr)
c.223G>A (p.Ala75Thr)
c.316G>A (p.Ala106Thr)
c.367G>A (p.Ala123Thr)
 dbSNP gnomAD v2
17g.81935061A=CA2278749842PYCR1c.405T= (p.Tyr135=)
c.486T= (p.Tyr162=)
c.222T= (p.Tyr74=)
c.315T= (p.Tyr105=)
c.366T= (p.Tyr122=)
17g.81935061A>CCA401538816PYCR1c.405T>G (p.Tyr135Ter)
c.486T>G (p.Tyr162Ter)
c.222T>G (p.Tyr74Ter)
c.315T>G (p.Tyr105Ter)
c.366T>G (p.Tyr122Ter)
 gnomAD v4
17g.81935061A>GCA295137801PYCR1c.405T>C (p.Tyr135=)
c.486T>C (p.Tyr162=)
c.222T>C (p.Tyr74=)
c.315T>C (p.Tyr105=)
c.366T>C (p.Tyr122=)
 dbSNP gnomAD v3 gnomAD v4
17g.81935061A>TCA401538814PYCR1c.405T>A (p.Tyr135Ter)
c.486T>A (p.Tyr162Ter)
c.222T>A (p.Tyr74Ter)
c.315T>A (p.Tyr105Ter)
c.366T>A (p.Tyr122Ter)
17g.81935062T>ACA401538819PYCR1c.404A>T (p.Tyr135Phe)
c.485A>T (p.Tyr162Phe)
c.221A>T (p.Tyr74Phe)
c.314A>T (p.Tyr105Phe)
c.365A>T (p.Tyr122Phe)
17g.81935062T>CCA401538820PYCR1c.404A>G (p.Tyr135Cys)
c.485A>G (p.Tyr162Cys)
c.221A>G (p.Tyr74Cys)
c.314A>G (p.Tyr105Cys)
c.365A>G (p.Tyr122Cys)
17g.81935062T>GCA401538823PYCR1c.404A>C (p.Tyr135Ser)
c.485A>C (p.Tyr162Ser)
c.221A>C (p.Tyr74Ser)
c.314A>C (p.Tyr105Ser)
c.365A>C (p.Tyr122Ser)
17g.81935063A>CCA401538824PYCR1c.403T>G (p.Tyr135Asp)
c.484T>G (p.Tyr162Asp)
c.220T>G (p.Tyr74Asp)
c.313T>G (p.Tyr105Asp)
c.364T>G (p.Tyr122Asp)
17g.81935063A>GCA401538826PYCR1c.403T>C (p.Tyr135His)
c.484T>C (p.Tyr162His)
c.220T>C (p.Tyr74His)
c.313T>C (p.Tyr105His)
c.364T>C (p.Tyr122His)
17g.81935063A>TCA401538827PYCR1c.403T>A (p.Tyr135Asn)
c.484T>A (p.Tyr162Asn)
c.220T>A (p.Tyr74Asn)
c.313T>A (p.Tyr105Asn)
c.364T>A (p.Tyr122Asn)
17g.81935064C>ACA502426549PYCR1c.402G>T (p.Val134=)
c.483G>T (p.Val161=)
c.219G>T (p.Val73=)
c.312G>T (p.Val104=)
c.363G>T (p.Val121=)
17g.81935064C>GCA502426551PYCR1c.402G>C (p.Val134=)
c.483G>C (p.Val161=)
c.219G>C (p.Val73=)
c.312G>C (p.Val104=)
c.363G>C (p.Val121=)
17g.81935064C>TCA502426553PYCR1c.402G>A (p.Val134=)
c.483G>A (p.Val161=)
c.219G>A (p.Val73=)
c.312G>A (p.Val104=)
c.363G>A (p.Val121=)
 gnomAD v4
17g.81935065A>CCA401538829PYCR1c.401T>G (p.Val134Gly)
c.482T>G (p.Val161Gly)
c.218T>G (p.Val73Gly)
c.311T>G (p.Val104Gly)
c.362T>G (p.Val121Gly)
17g.81935065A>GCA401538832PYCR1c.401T>C (p.Val134Ala)
c.482T>C (p.Val161Ala)
c.218T>C (p.Val73Ala)
c.311T>C (p.Val104Ala)
c.362T>C (p.Val121Ala)
17g.81935065A>TCA401538835PYCR1c.401T>A (p.Val134Glu)
c.482T>A (p.Val161Glu)
c.218T>A (p.Val73Glu)
c.311T>A (p.Val104Glu)
c.362T>A (p.Val121Glu)
17g.81935065_81935072delinsACGGTGGCCA2278749843PYCR1c.394_401delinsGCCACCGT (p.Ala132=)
c.475_482delinsGCCACCGT (p.Ala159=)
c.211_218delinsGCCACCGT (p.Ala71=)
c.304_311delinsGCCACCGT (p.Ala102=)
c.355_362delinsGCCACCGT (p.Ala119=)
17g.81935066C>ACA401538837PYCR1c.400G>T (p.Val134Leu)
c.481G>T (p.Val161Leu)
c.217G>T (p.Val73Leu)
c.310G>T (p.Val104Leu)
c.361G>T (p.Val121Leu)
 gnomAD v4
17g.81935066C=CA2278749844PYCR1c.400G= (p.Val134=)
c.481G= (p.Val161=)
c.217G= (p.Val73=)
c.310G= (p.Val104=)
c.361G= (p.Val121=)
17g.81935066C>GCA401538839PYCR1c.400G>C (p.Val134Leu)
c.481G>C (p.Val161Leu)
c.217G>C (p.Val73Leu)
c.310G>C (p.Val104Leu)
c.361G>C (p.Val121Leu)
17g.81935066C>TCA8845452PYCR1c.400G>A (p.Val134Met)
c.481G>A (p.Val161Met)
c.217G>A (p.Val73Met)
c.310G>A (p.Val104Met)
c.361G>A (p.Val121Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935067_81935073delCA628024683PYCR1c.394_400del (p.Ala132CysfsTer20)
c.475_481del (p.Ala159CysfsTer20)
c.211_217del (p.Ala71CysfsTer20)
c.304_310del (p.Ala102CysfsTer?)
c.304_310del (p.Ala102CysfsTer20)
c.355_361del (p.Ala119CysfsTer20)
 dbSNP gnomAD v2 gnomAD v4
17g.81935067G>ACA8845453PYCR1c.399C>T (p.Thr133=)
c.480C>T (p.Thr160=)
c.216C>T (p.Thr72=)
c.309C>T (p.Thr103=)
c.360C>T (p.Thr120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935067G>CCA502426556PYCR1c.399C>G (p.Thr133=)
c.480C>G (p.Thr160=)
c.216C>G (p.Thr72=)
c.309C>G (p.Thr103=)
c.360C>G (p.Thr120=)
17g.81935067G=CA2278749845PYCR1c.399C= (p.Thr133=)
c.480C= (p.Thr160=)
c.216C= (p.Thr72=)
c.309C= (p.Thr103=)
c.360C= (p.Thr120=)
17g.81935067G>TCA502426559PYCR1c.399C>A (p.Thr133=)
c.480C>A (p.Thr160=)
c.216C>A (p.Thr72=)
c.309C>A (p.Thr103=)
c.360C>A (p.Thr120=)
 gnomAD v4
17g.81935068G>ACA401538849PYCR1c.398C>T (p.Thr133Ile)
c.479C>T (p.Thr160Ile)
c.215C>T (p.Thr72Ile)
c.308C>T (p.Thr103Ile)
c.359C>T (p.Thr120Ile)
 gnomAD v4 COSMIC COSMIC
17g.81935068G>CCA401538845PYCR1c.398C>G (p.Thr133Ser)
c.479C>G (p.Thr160Ser)
c.215C>G (p.Thr72Ser)
c.308C>G (p.Thr103Ser)
c.359C>G (p.Thr120Ser)
17g.81935068G=CA2278749846PYCR1c.398C= (p.Thr133=)
c.479C= (p.Thr160=)
c.215C= (p.Thr72=)
c.308C= (p.Thr103=)
c.359C= (p.Thr120=)
17g.81935068G>TCA401538844PYCR1c.398C>A (p.Thr133Asn)
c.479C>A (p.Thr160Asn)
c.215C>A (p.Thr72Asn)
c.308C>A (p.Thr103Asn)
c.359C>A (p.Thr120Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.81935069T>ACA401538853PYCR1c.397A>T (p.Thr133Ser)
c.478A>T (p.Thr160Ser)
c.214A>T (p.Thr72Ser)
c.307A>T (p.Thr103Ser)
c.358A>T (p.Thr120Ser)
17g.81935069T>CCA401538851PYCR1c.397A>G (p.Thr133Ala)
c.478A>G (p.Thr160Ala)
c.214A>G (p.Thr72Ala)
c.307A>G (p.Thr103Ala)
c.358A>G (p.Thr120Ala)
17g.81935069T>GCA401538854PYCR1c.397A>C (p.Thr133Pro)
c.478A>C (p.Thr160Pro)
c.214A>C (p.Thr72Pro)
c.307A>C (p.Thr103Pro)
c.358A>C (p.Thr120Pro)
17g.81935070G>ACA502426562PYCR1c.396C>T (p.Ala132=)
c.477C>T (p.Ala159=)
c.213C>T (p.Ala71=)
c.306C>T (p.Ala102=)
c.357C>T (p.Ala119=)
 gnomAD v4
17g.81935070G>CCA502426564PYCR1c.396C>G (p.Ala132=)
c.477C>G (p.Ala159=)
c.213C>G (p.Ala71=)
c.306C>G (p.Ala102=)
c.357C>G (p.Ala119=)
17g.81935070G>TCA502426566PYCR1c.396C>A (p.Ala132=)
c.477C>A (p.Ala159=)
c.213C>A (p.Ala71=)
c.306C>A (p.Ala102=)
c.357C>A (p.Ala119=)
 gnomAD v4
17g.81935071delCA2810645703PYCR1c.396del (p.Thr133ProfsTer21)
c.477del (p.Thr160ProfsTer21)
c.213del (p.Thr72ProfsTer21)
c.306del (p.Thr103ProfsTer?)
c.306del (p.Thr103ProfsTer21)
c.357del (p.Thr120ProfsTer21)
17g.81935071G>ACA401538856PYCR1c.395C>T (p.Ala132Val)
c.476C>T (p.Ala159Val)
c.212C>T (p.Ala71Val)
c.305C>T (p.Ala102Val)
c.356C>T (p.Ala119Val)
17g.81935071G>CCA401538857PYCR1c.395C>G (p.Ala132Gly)
c.476C>G (p.Ala159Gly)
c.212C>G (p.Ala71Gly)
c.305C>G (p.Ala102Gly)
c.356C>G (p.Ala119Gly)
17g.81935071G=CA2278749847PYCR1c.395C= (p.Ala132=)
c.476C= (p.Ala159=)
c.212C= (p.Ala71=)
c.305C= (p.Ala102=)
c.356C= (p.Ala119=)
17g.81935071G>TCA401538859PYCR1c.395C>A (p.Ala132Asp)
c.476C>A (p.Ala159Asp)
c.212C>A (p.Ala71Asp)
c.305C>A (p.Ala102Asp)
c.356C>A (p.Ala119Asp)
 ClinVar dbSNP gnomAD v4
17g.81935072C>ACA401538861PYCR1c.394G>T (p.Ala132Ser)
c.475G>T (p.Ala159Ser)
c.211G>T (p.Ala71Ser)
c.304G>T (p.Ala102Ser)
c.355G>T (p.Ala119Ser)
17g.81935072C=CA2278749848PYCR1c.394G= (p.Ala132=)
c.475G= (p.Ala159=)
c.211G= (p.Ala71=)
c.304G= (p.Ala102=)
c.355G= (p.Ala119=)
17g.81935072C>GCA401538863PYCR1c.394G>C (p.Ala132Pro)
c.475G>C (p.Ala159Pro)
c.211G>C (p.Ala71Pro)
c.304G>C (p.Ala102Pro)
c.355G>C (p.Ala119Pro)
17g.81935072C>TCA401538864PYCR1c.394G>A (p.Ala132Thr)
c.475G>A (p.Ala159Thr)
c.211G>A (p.Ala71Thr)
c.304G>A (p.Ala102Thr)
c.355G>A (p.Ala119Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.81935076delCA2640547961PYCR1c.394del (p.Ala132ProfsTer22)
c.475del (p.Ala159ProfsTer22)
c.211del (p.Ala71ProfsTer22)
c.304del (p.Ala102ProfsTer?)
c.304del (p.Ala102ProfsTer22)
c.355del (p.Ala119ProfsTer22)
 gnomAD v4
17g.81935073C>ACA502426568PYCR1c.393G>T (p.Gly131=)
c.474G>T (p.Gly158=)
c.210G>T (p.Gly70=)
c.303G>T (p.Gly101=)
c.354G>T (p.Gly118=)
17g.81935073C=CA2278749849PYCR1c.393G= (p.Gly131=)
c.474G= (p.Gly158=)
c.210G= (p.Gly70=)
c.303G= (p.Gly101=)
c.354G= (p.Gly118=)
17g.81935073C>GCA502426569PYCR1c.393G>C (p.Gly131=)
c.474G>C (p.Gly158=)
c.210G>C (p.Gly70=)
c.303G>C (p.Gly101=)
c.354G>C (p.Gly118=)
17g.81935073C>TCA502426571PYCR1c.393G>A (p.Gly131=)
c.474G>A (p.Gly158=)
c.210G>A (p.Gly70=)
c.303G>A (p.Gly101=)
c.354G>A (p.Gly118=)
 dbSNP gnomAD v2
17g.81935074C>ACA401538865PYCR1c.392G>T (p.Gly131Val)
c.473G>T (p.Gly158Val)
c.209G>T (p.Gly70Val)
c.302G>T (p.Gly101Val)
c.353G>T (p.Gly118Val)
 dbSNP gnomAD v2 gnomAD v4
17g.81935074C=CA2278749850PYCR1c.392G= (p.Gly131=)
c.473G= (p.Gly158=)
c.209G= (p.Gly70=)
c.302G= (p.Gly101=)
c.353G= (p.Gly118=)
17g.81935074C>GCA401538868PYCR1c.392G>C (p.Gly131Ala)
c.473G>C (p.Gly158Ala)
c.209G>C (p.Gly70Ala)
c.302G>C (p.Gly101Ala)
c.353G>C (p.Gly118Ala)
 gnomAD v4
17g.81935074C>TCA401538871PYCR1c.392G>A (p.Gly131Glu)
c.473G>A (p.Gly158Glu)
c.209G>A (p.Gly70Glu)
c.302G>A (p.Gly101Glu)
c.353G>A (p.Gly118Glu)
17g.81935075C>ACA401538873PYCR1c.391G>T (p.Gly131Trp)
c.472G>T (p.Gly158Trp)
c.208G>T (p.Gly70Trp)
c.301G>T (p.Gly101Trp)
c.352G>T (p.Gly118Trp)
 dbSNP gnomAD v3 gnomAD v4
17g.81935075C=CA2278749851PYCR1c.391G= (p.Gly131=)
c.472G= (p.Gly158=)
c.208G= (p.Gly70=)
c.301G= (p.Gly101=)
c.352G= (p.Gly118=)
17g.81935075C>GCA401538881PYCR1c.391G>C (p.Gly131Arg)
c.472G>C (p.Gly158Arg)
c.208G>C (p.Gly70Arg)
c.301G>C (p.Gly101Arg)
c.352G>C (p.Gly118Arg)
17g.81935075C>TCA401538884PYCR1c.391G>A (p.Gly131Arg)
c.472G>A (p.Gly158Arg)
c.208G>A (p.Gly70Arg)
c.301G>A (p.Gly101Arg)
c.352G>A (p.Gly118Arg)
17g.81935076C>ACA401538889PYCR1c.390G>T (p.Glu130Asp)
c.471G>T (p.Glu157Asp)
c.207G>T (p.Glu69Asp)
c.300G>T (p.Glu100Asp)
c.351G>T (p.Glu117Asp)
17g.81935076C>GCA401538886PYCR1c.390G>C (p.Glu130Asp)
c.471G>C (p.Glu157Asp)
c.207G>C (p.Glu69Asp)
c.300G>C (p.Glu100Asp)
c.351G>C (p.Glu117Asp)
 gnomAD v4
17g.81935076C>TCA502426574PYCR1c.390G>A (p.Glu130=)
c.471G>A (p.Glu157=)
c.207G>A (p.Glu69=)
c.300G>A (p.Glu100=)
c.351G>A (p.Glu117=)
17g.81935077T>ACA401538895PYCR1c.389A>T (p.Glu130Val)
c.470A>T (p.Glu157Val)
c.206A>T (p.Glu69Val)
c.299A>T (p.Glu100Val)
c.350A>T (p.Glu117Val)
17g.81935077T>CCA401538902PYCR1c.389A>G (p.Glu130Gly)
c.470A>G (p.Glu157Gly)
c.206A>G (p.Glu69Gly)
c.299A>G (p.Glu100Gly)
c.350A>G (p.Glu117Gly)
17g.81935077T>GCA401538904PYCR1c.389A>C (p.Glu130Ala)
c.470A>C (p.Glu157Ala)
c.206A>C (p.Glu69Ala)
c.299A>C (p.Glu100Ala)
c.350A>C (p.Glu117Ala)
17g.81935077_81935078delinsTCCA2278749852PYCR1c.388_389delinsGA (p.Glu130=)
c.469_470delinsGA (p.Glu157=)
c.205_206delinsGA (p.Glu69=)
c.298_299delinsGA (p.Glu100=)
c.349_350delinsGA (p.Glu117=)
17g.81935078C>ACA401538907PYCR1c.388G>T (p.Glu130Ter)
c.469G>T (p.Glu157Ter)
c.205G>T (p.Glu69Ter)
c.298G>T (p.Glu100Ter)
c.349G>T (p.Glu117Ter)
17g.81935078C>GCA401538909PYCR1c.388G>C (p.Glu130Gln)
c.469G>C (p.Glu157Gln)
c.205G>C (p.Glu69Gln)
c.298G>C (p.Glu100Gln)
c.349G>C (p.Glu117Gln)
17g.81935078C>TCA401538911PYCR1c.388G>A (p.Glu130Lys)
c.469G>A (p.Glu157Lys)
c.205G>A (p.Glu69Lys)
c.298G>A (p.Glu100Lys)
c.349G>A (p.Glu117Lys)
 gnomAD v4
17g.81935080delCA8845454PYCR1c.388del (p.Glu130ArgfsTer24)
c.469del (p.Glu157ArgfsTer24)
c.205del (p.Glu69ArgfsTer24)
c.298del (p.Glu100ArgfsTer?)
c.298del (p.Glu100ArgfsTer24)
c.349del (p.Glu117ArgfsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935079C>ACA502426581PYCR1c.387G>T (p.Arg129=)
c.468G>T (p.Arg156=)
c.204G>T (p.Arg68=)
c.297G>T (p.Arg99=)
c.348G>T (p.Arg116=)
17g.81935079C=CA2278749853PYCR1c.387G= (p.Arg129=)
c.468G= (p.Arg156=)
c.204G= (p.Arg68=)
c.297G= (p.Arg99=)
c.348G= (p.Arg116=)
17g.81935079C>GCA502426582PYCR1c.387G>C (p.Arg129=)
c.468G>C (p.Arg156=)
c.204G>C (p.Arg68=)
c.297G>C (p.Arg99=)
c.348G>C (p.Arg116=)
 gnomAD v4
17g.81935079C>TCA502426584PYCR1c.387G>A (p.Arg129=)
c.468G>A (p.Arg156=)
c.204G>A (p.Arg68=)
c.297G>A (p.Arg99=)
c.348G>A (p.Arg116=)
17g.81935079_81935080insTGCGCA2278749854PYCR1c.386_387insCGCA (p.Glu130AlafsTer?)
c.467_468insCGCA (p.Glu157AlafsTer?)
c.203_204insCGCA (p.Glu69AlafsTer?)
c.296_297insCGCA (p.Glu100AlafsTer?)
c.347_348insCGCA (p.Glu117AlafsTer?)
 ClinVar dbSNP
17g.81935080C>ACA401538915PYCR1c.386G>T (p.Arg129Leu)
c.467G>T (p.Arg156Leu)
c.203G>T (p.Arg68Leu)
c.296G>T (p.Arg99Leu)
c.347G>T (p.Arg116Leu)
 ClinVar gnomAD v4
17g.81935080C=CA2278749855PYCR1c.386G= (p.Arg129=)
c.467G= (p.Arg156=)
c.203G= (p.Arg68=)
c.296G= (p.Arg99=)
c.347G= (p.Arg116=)
17g.81935080C>GCA401538919PYCR1c.386G>C (p.Arg129Pro)
c.467G>C (p.Arg156Pro)
c.203G>C (p.Arg68Pro)
c.296G>C (p.Arg99Pro)
c.347G>C (p.Arg116Pro)
17g.81935080C>TCA8845455PYCR1c.386G>A (p.Arg129Gln)
c.467G>A (p.Arg156Gln)
c.203G>A (p.Arg68Gln)
c.296G>A (p.Arg99Gln)
c.347G>A (p.Arg116Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935080_81935081delinsCGCA2278749856PYCR1c.385_386delinsCG (p.Arg129=)
c.466_467delinsCG (p.Arg156=)
c.202_203delinsCG (p.Arg68=)
c.295_296delinsCG (p.Arg99=)
c.346_347delinsCG (p.Arg116=)
17g.81935081delCA628024688PYCR1c.385del (p.Arg129GlyfsTer25)
c.466del (p.Arg156GlyfsTer25)
c.202del (p.Arg68GlyfsTer25)
c.295del (p.Arg99GlyfsTer?)
c.295del (p.Arg99GlyfsTer25)
c.346del (p.Arg116GlyfsTer25)
 dbSNP gnomAD v2 gnomAD v4
17g.81935081G>ACA8845456PYCR1c.385C>T (p.Arg129Trp)
c.466C>T (p.Arg156Trp)
c.202C>T (p.Arg68Trp)
c.295C>T (p.Arg99Trp)
c.346C>T (p.Arg116Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.81935081G>CCA401538924PYCR1c.385C>G (p.Arg129Gly)
c.466C>G (p.Arg156Gly)
c.202C>G (p.Arg68Gly)
c.295C>G (p.Arg99Gly)
c.346C>G (p.Arg116Gly)
17g.81935081G=CA2278749857PYCR1c.385C= (p.Arg129=)
c.466C= (p.Arg156=)
c.202C= (p.Arg68=)
c.295C= (p.Arg99=)
c.346C= (p.Arg116=)
17g.81935081G>TCA502426590PYCR1c.385C>A (p.Arg129=)
c.466C>A (p.Arg156=)
c.202C>A (p.Arg68=)
c.295C>A (p.Arg99=)
c.346C>A (p.Arg116=)
 gnomAD v4
17g.81935082C>ACA502426591PYCR1c.384G>T (p.Val128=)
c.465G>T (p.Val155=)
c.201G>T (p.Val67=)
c.294G>T (p.Val98=)
c.345G>T (p.Val115=)
17g.81935082C>GCA502426592PYCR1c.384G>C (p.Val128=)
c.465G>C (p.Val155=)
c.201G>C (p.Val67=)
c.294G>C (p.Val98=)
c.345G>C (p.Val115=)
17g.81935082C>TCA502426594PYCR1c.384G>A (p.Val128=)
c.465G>A (p.Val155=)
c.201G>A (p.Val67=)
c.294G>A (p.Val98=)
c.345G>A (p.Val115=)
 gnomAD v4
17g.81935083A=CA2278749858PYCR1c.383T= (p.Val128=)
c.464T= (p.Val155=)
c.200T= (p.Val67=)
c.293T= (p.Val98=)
c.344T= (p.Val115=)
17g.81935083A>CCA401538927PYCR1c.383T>G (p.Val128Gly)
c.464T>G (p.Val155Gly)
c.200T>G (p.Val67Gly)
c.293T>G (p.Val98Gly)
c.344T>G (p.Val115Gly)
17g.81935083A>GCA401538928PYCR1c.383T>C (p.Val128Ala)
c.464T>C (p.Val155Ala)
c.200T>C (p.Val67Ala)
c.293T>C (p.Val98Ala)
c.344T>C (p.Val115Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81935083A>TCA401538925PYCR1c.383T>A (p.Val128Glu)
c.464T>A (p.Val155Glu)
c.200T>A (p.Val67Glu)
c.293T>A (p.Val98Glu)
c.344T>A (p.Val115Glu)
17g.81935084C>ACA401538931PYCR1c.382G>T (p.Val128Leu)
c.463G>T (p.Val155Leu)
c.199G>T (p.Val67Leu)
c.292G>T (p.Val98Leu)
c.343G>T (p.Val115Leu)
17g.81935084C=CA2278749859PYCR1c.382G= (p.Val128=)
c.463G= (p.Val155=)
c.199G= (p.Val67=)
c.292G= (p.Val98=)
c.343G= (p.Val115=)
17g.81935084C>GCA401538932PYCR1c.382G>C (p.Val128Leu)
c.463G>C (p.Val155Leu)
c.199G>C (p.Val67Leu)
c.292G>C (p.Val98Leu)
c.343G>C (p.Val115Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.81935084C>TCA401538936PYCR1c.382G>A (p.Val128Met)
c.463G>A (p.Val155Met)
c.199G>A (p.Val67Met)
c.292G>A (p.Val98Met)
c.343G>A (p.Val115Met)
17g.81935085C>ACA502426602PYCR1c.381G>T (p.Val127=)
c.462G>T (p.Val154=)
c.198G>T (p.Val66=)
c.291G>T (p.Val97=)
c.342G>T (p.Val114=)
17g.81935085C=CA2278749860PYCR1c.381G= (p.Val127=)
c.462G= (p.Val154=)
c.198G= (p.Val66=)
c.291G= (p.Val97=)
c.342G= (p.Val114=)
17g.81935085C>GCA502426603PYCR1c.381G>C (p.Val127=)
c.462G>C (p.Val154=)
c.198G>C (p.Val66=)
c.291G>C (p.Val97=)
c.342G>C (p.Val114=)
17g.81935085C>TCA502426604PYCR1c.381G>A (p.Val127=)
c.462G>A (p.Val154=)
c.198G>A (p.Val66=)
c.291G>A (p.Val97=)
c.342G>A (p.Val114=)
 ClinVar dbSNP
17g.81935086A>CCA401538939PYCR1c.380T>G (p.Val127Gly)
c.461T>G (p.Val154Gly)
c.197T>G (p.Val66Gly)
c.290T>G (p.Val97Gly)
c.341T>G (p.Val114Gly)
17g.81935086A>GCA401538941PYCR1c.380T>C (p.Val127Ala)
c.461T>C (p.Val154Ala)
c.197T>C (p.Val66Ala)
c.290T>C (p.Val97Ala)
c.341T>C (p.Val114Ala)
17g.81935086A>TCA401538944PYCR1c.380T>A (p.Val127Glu)
c.461T>A (p.Val154Glu)
c.197T>A (p.Val66Glu)
c.290T>A (p.Val97Glu)
c.341T>A (p.Val114Glu)
17g.81935087C>ACA401538948PYCR1c.379G>T (p.Val127Leu)
c.460G>T (p.Val154Leu)
c.196G>T (p.Val66Leu)
c.289G>T (p.Val97Leu)
c.340G>T (p.Val114Leu)
17g.81935087C=CA2278749861PYCR1c.379G= (p.Val127=)
c.460G= (p.Val154=)
c.196G= (p.Val66=)
c.289G= (p.Val97=)
c.340G= (p.Val114=)
17g.81935087C>GCA401538959PYCR1c.379G>C (p.Val127Leu)
c.460G>C (p.Val154Leu)
c.196G>C (p.Val66Leu)
c.289G>C (p.Val97Leu)
c.340G>C (p.Val114Leu)
17g.81935087C>TCA8845457PYCR1c.379G>A (p.Val127Met)
c.460G>A (p.Val154Met)
c.196G>A (p.Val66Met)
c.289G>A (p.Val97Met)
c.340G>A (p.Val114Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935088G>ACA8845458PYCR1c.378C>T (p.Val126=)
c.459C>T (p.Val153=)
c.195C>T (p.Val65=)
c.288C>T (p.Val96=)
c.339C>T (p.Val113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935088G>CCA502426613PYCR1c.378C>G (p.Val126=)
c.459C>G (p.Val153=)
c.195C>G (p.Val65=)
c.288C>G (p.Val96=)
c.339C>G (p.Val113=)
17g.81935088G=CA2278749862PYCR1c.378C= (p.Val126=)
c.459C= (p.Val153=)
c.195C= (p.Val65=)
c.288C= (p.Val96=)
c.339C= (p.Val113=)
17g.81935088G>TCA502426614PYCR1c.378C>A (p.Val126=)
c.459C>A (p.Val153=)
c.195C>A (p.Val65=)
c.288C>A (p.Val96=)
c.339C>A (p.Val113=)
 gnomAD v4
17g.81935089A>CCA401538965PYCR1c.377T>G (p.Val126Gly)
c.458T>G (p.Val153Gly)
c.194T>G (p.Val65Gly)
c.287T>G (p.Val96Gly)
c.338T>G (p.Val113Gly)
17g.81935089A>GCA401538970PYCR1c.377T>C (p.Val126Ala)
c.458T>C (p.Val153Ala)
c.194T>C (p.Val65Ala)
c.287T>C (p.Val96Ala)
c.338T>C (p.Val113Ala)
17g.81935089A>TCA401538972PYCR1c.377T>A (p.Val126Asp)
c.458T>A (p.Val153Asp)
c.194T>A (p.Val65Asp)
c.287T>A (p.Val96Asp)
c.338T>A (p.Val113Asp)
17g.81935090C>ACA401538979PYCR1c.376G>T (p.Val126Phe)
c.457G>T (p.Val153Phe)
c.193G>T (p.Val65Phe)
c.286G>T (p.Val96Phe)
c.337G>T (p.Val113Phe)
17g.81935090C=CA2278749863PYCR1c.376G= (p.Val126=)
c.457G= (p.Val153=)
c.193G= (p.Val65=)
c.286G= (p.Val96=)
c.337G= (p.Val113=)
17g.81935090C>GCA401538977PYCR1c.376G>C (p.Val126Leu)
c.457G>C (p.Val153Leu)
c.193G>C (p.Val65Leu)
c.286G>C (p.Val96Leu)
c.337G>C (p.Val113Leu)
17g.81935090C>TCA401538974PYCR1c.376G>A (p.Val126Ile)
c.457G>A (p.Val153Ile)
c.193G>A (p.Val65Ile)
c.286G>A (p.Val96Ile)
c.337G>A (p.Val113Ile)
 dbSNP gnomAD v2
17g.81935091T>ACA502426617PYCR1c.375A>T (p.Pro125=)
c.456A>T (p.Pro152=)
c.192A>T (p.Pro64=)
c.285A>T (p.Pro95=)
c.336A>T (p.Pro112=)
17g.81935091T>CCA502426618PYCR1c.375A>G (p.Pro125=)
c.456A>G (p.Pro152=)
c.192A>G (p.Pro64=)
c.285A>G (p.Pro95=)
c.336A>G (p.Pro112=)
17g.81935091T>GCA502426619PYCR1c.375A>C (p.Pro125=)
c.456A>C (p.Pro152=)
c.192A>C (p.Pro64=)
c.285A>C (p.Pro95=)
c.336A>C (p.Pro112=)
 dbSNP gnomAD v2
17g.81935091T=CA2278749864PYCR1c.375A= (p.Pro125=)
c.456A= (p.Pro152=)
c.192A= (p.Pro64=)
c.285A= (p.Pro95=)
c.336A= (p.Pro112=)
17g.81935092G>ACA401538984PYCR1c.374C>T (p.Pro125Leu)
c.455C>T (p.Pro152Leu)
c.191C>T (p.Pro64Leu)
c.284C>T (p.Pro95Leu)
c.335C>T (p.Pro112Leu)
 dbSNP gnomAD v4
17g.81935092G>CCA401538985PYCR1c.374C>G (p.Pro125Arg)
c.455C>G (p.Pro152Arg)
c.191C>G (p.Pro64Arg)
c.284C>G (p.Pro95Arg)
c.335C>G (p.Pro112Arg)
17g.81935092G>TCA401538987PYCR1c.374C>A (p.Pro125Gln)
c.455C>A (p.Pro152Gln)
c.191C>A (p.Pro64Gln)
c.284C>A (p.Pro95Gln)
c.335C>A (p.Pro112Gln)
17g.81935093delCA2576428655PYCR1c.374del (p.Pro125GlnfsTer29)
c.455del (p.Pro152GlnfsTer29)
c.191del (p.Pro64GlnfsTer29)
c.284del (p.Pro95GlnfsTer?)
c.284del (p.Pro95GlnfsTer29)
c.335del (p.Pro112GlnfsTer29)
17g.81935093G>ACA401538989PYCR1c.373C>T (p.Pro125Ser)
c.454C>T (p.Pro152Ser)
c.190C>T (p.Pro64Ser)
c.283C>T (p.Pro95Ser)
c.334C>T (p.Pro112Ser)
 gnomAD v4
17g.81935093G>CCA401538991PYCR1c.373C>G (p.Pro125Ala)
c.454C>G (p.Pro152Ala)
c.190C>G (p.Pro64Ala)
c.283C>G (p.Pro95Ala)
c.334C>G (p.Pro112Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.81935093G=CA2278749865PYCR1c.373C= (p.Pro125=)
c.454C= (p.Pro152=)
c.190C= (p.Pro64=)
c.283C= (p.Pro95=)
c.334C= (p.Pro112=)
17g.81935093G>TCA401538995PYCR1c.373C>A (p.Pro125Thr)
c.454C>A (p.Pro152Thr)
c.190C>A (p.Pro64Thr)
c.283C>A (p.Pro95Thr)
c.334C>A (p.Pro112Thr)
 gnomAD v4
17g.81935094A>CCA502426623PYCR1c.372T>G (p.Thr124=)
c.453T>G (p.Thr151=)
c.189T>G (p.Thr63=)
c.282T>G (p.Thr94=)
c.333T>G (p.Thr111=)
17g.81935094A>GCA502426624PYCR1c.372T>C (p.Thr124=)
c.453T>C (p.Thr151=)
c.189T>C (p.Thr63=)
c.282T>C (p.Thr94=)
c.333T>C (p.Thr111=)
 gnomAD v4
17g.81935094A>TCA502426625PYCR1c.372T>A (p.Thr124=)
c.453T>A (p.Thr151=)
c.189T>A (p.Thr63=)
c.282T>A (p.Thr94=)
c.333T>A (p.Thr111=)
17g.81935095G>ACA401538999PYCR1c.371C>T (p.Thr124Ile)
c.452C>T (p.Thr151Ile)
c.188C>T (p.Thr63Ile)
c.281C>T (p.Thr94Ile)
c.332C>T (p.Thr111Ile)
 dbSNP
17g.81935095G>CCA401539001PYCR1c.371C>G (p.Thr124Ser)
c.452C>G (p.Thr151Ser)
c.188C>G (p.Thr63Ser)
c.281C>G (p.Thr94Ser)
c.332C>G (p.Thr111Ser)
17g.81935095G=CA2278749866PYCR1c.371C= (p.Thr124=)
c.452C= (p.Thr151=)
c.188C= (p.Thr63=)
c.281C= (p.Thr94=)
c.332C= (p.Thr111=)
17g.81935095G>TCA401539003PYCR1c.371C>A (p.Thr124Asn)
c.452C>A (p.Thr151Asn)
c.188C>A (p.Thr63Asn)
c.281C>A (p.Thr94Asn)
c.332C>A (p.Thr111Asn)
17g.81935096T>ACA401539007PYCR1c.370A>T (p.Thr124Ser)
c.451A>T (p.Thr151Ser)
c.187A>T (p.Thr63Ser)
c.280A>T (p.Thr94Ser)
c.331A>T (p.Thr111Ser)
17g.81935096T>CCA401539009PYCR1c.370A>G (p.Thr124Ala)
c.451A>G (p.Thr151Ala)
c.187A>G (p.Thr63Ala)
c.280A>G (p.Thr94Ala)
c.331A>G (p.Thr111Ala)
17g.81935096T>GCA401539010PYCR1c.370A>C (p.Thr124Pro)
c.451A>C (p.Thr151Pro)
c.187A>C (p.Thr63Pro)
c.280A>C (p.Thr94Pro)
c.331A>C (p.Thr111Pro)
17g.81935097G>ACA502426634PYCR1c.369C>T (p.Asn123=)
c.450C>T (p.Asn150=)
c.186C>T (p.Asn62=)
c.279C>T (p.Asn93=)
c.330C>T (p.Asn110=)
17g.81935097G>CCA401539013PYCR1c.369C>G (p.Asn123Lys)
c.450C>G (p.Asn150Lys)
c.186C>G (p.Asn62Lys)
c.279C>G (p.Asn93Lys)
c.330C>G (p.Asn110Lys)
 ClinVar
17g.81935097G>TCA401539015PYCR1c.369C>A (p.Asn123Lys)
c.450C>A (p.Asn150Lys)
c.186C>A (p.Asn62Lys)
c.279C>A (p.Asn93Lys)
c.330C>A (p.Asn110Lys)
 gnomAD v4
17g.81935098T>ACA401539021PYCR1c.368A>T (p.Asn123Ile)
c.449A>T (p.Asn150Ile)
c.185A>T (p.Asn62Ile)
c.278A>T (p.Asn93Ile)
c.329A>T (p.Asn110Ile)
17g.81935098T>CCA401539022PYCR1c.368A>G (p.Asn123Ser)
c.449A>G (p.Asn150Ser)
c.185A>G (p.Asn62Ser)
c.278A>G (p.Asn93Ser)
c.329A>G (p.Asn110Ser)
17g.81935098T>GCA401539018PYCR1c.368A>C (p.Asn123Thr)
c.449A>C (p.Asn150Thr)
c.185A>C (p.Asn62Thr)
c.278A>C (p.Asn93Thr)
c.329A>C (p.Asn110Thr)
17g.81935099T>ACA401539024PYCR1c.367A>T (p.Asn123Tyr)
c.448A>T (p.Asn150Tyr)
c.184A>T (p.Asn62Tyr)
c.277A>T (p.Asn93Tyr)
c.328A>T (p.Asn110Tyr)
17g.81935099T>CCA295137820PYCR1c.367A>G (p.Asn123Asp)
c.448A>G (p.Asn150Asp)
c.184A>G (p.Asn62Asp)
c.277A>G (p.Asn93Asp)
c.328A>G (p.Asn110Asp)
 dbSNP
17g.81935099T>GCA401539030PYCR1c.367A>C (p.Asn123His)
c.448A>C (p.Asn150His)
c.184A>C (p.Asn62His)
c.277A>C (p.Asn93His)
c.328A>C (p.Asn110His)
17g.81935099T=CA2278749867PYCR1c.367A= (p.Asn123=)
c.448A= (p.Asn150=)
c.184A= (p.Asn62=)
c.277A= (p.Asn93=)
c.328A= (p.Asn110=)
17g.81935100G>ACA502426645PYCR1c.366C>T (p.Thr122=)
c.447C>T (p.Thr149=)
c.183C>T (p.Thr61=)
c.276C>T (p.Thr92=)
c.327C>T (p.Thr109=)
 COSMIC COSMIC
17g.81935100G>CCA502426643PYCR1c.366C>G (p.Thr122=)
c.447C>G (p.Thr149=)
c.183C>G (p.Thr61=)
c.276C>G (p.Thr92=)
c.327C>G (p.Thr109=)
 dbSNP gnomAD v4
17g.81935100G=CA2278749868PYCR1c.366C= (p.Thr122=)
c.447C= (p.Thr149=)
c.183C= (p.Thr61=)
c.276C= (p.Thr92=)
c.327C= (p.Thr109=)
17g.81935100G>TCA502426641PYCR1c.366C>A (p.Thr122=)
c.447C>A (p.Thr149=)
c.183C>A (p.Thr61=)
c.276C>A (p.Thr92=)
c.327C>A (p.Thr109=)
17g.81935101G>ACA401539032PYCR1c.365C>T (p.Thr122Ile)
c.446C>T (p.Thr149Ile)
c.182C>T (p.Thr61Ile)
c.275C>T (p.Thr92Ile)
c.326C>T (p.Thr109Ile)
17g.81935101G>CCA295137824PYCR1c.365C>G (p.Thr122Ser)
c.446C>G (p.Thr149Ser)
c.182C>G (p.Thr61Ser)
c.275C>G (p.Thr92Ser)
c.326C>G (p.Thr109Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.81935101G=CA2278749869PYCR1c.365C= (p.Thr122=)
c.446C= (p.Thr149=)
c.182C= (p.Thr61=)
c.275C= (p.Thr92=)
c.326C= (p.Thr109=)
17g.81935101G>TCA401539037PYCR1c.365C>A (p.Thr122Asn)
c.446C>A (p.Thr149Asn)
c.182C>A (p.Thr61Asn)
c.275C>A (p.Thr92Asn)
c.326C>A (p.Thr109Asn)
 gnomAD v4
17g.81935102T>ACA401539043PYCR1c.364A>T (p.Thr122Ser)
c.445A>T (p.Thr149Ser)
c.181A>T (p.Thr61Ser)
c.274A>T (p.Thr92Ser)
c.325A>T (p.Thr109Ser)
17g.81935102T>CCA401539041PYCR1c.364A>G (p.Thr122Ala)
c.445A>G (p.Thr149Ala)
c.181A>G (p.Thr61Ala)
c.274A>G (p.Thr92Ala)
c.325A>G (p.Thr109Ala)
17g.81935102T>GCA401539039PYCR1c.364A>C (p.Thr122Pro)
c.445A>C (p.Thr149Pro)
c.181A>C (p.Thr61Pro)
c.274A>C (p.Thr92Pro)
c.325A>C (p.Thr109Pro)
17g.81935103C>ACA401539046PYCR1c.363G>T (p.Met121Ile)
c.444G>T (p.Met148Ile)
c.180G>T (p.Met60Ile)
c.273G>T (p.Met91Ile)
c.324G>T (p.Met108Ile)
 gnomAD v4
17g.81935103C>GCA401539049PYCR1c.363G>C (p.Met121Ile)
c.444G>C (p.Met148Ile)
c.180G>C (p.Met60Ile)
c.273G>C (p.Met91Ile)
c.324G>C (p.Met108Ile)
17g.81935103C>TCA401539051PYCR1c.363G>A (p.Met121Ile)
c.444G>A (p.Met148Ile)
c.180G>A (p.Met60Ile)
c.273G>A (p.Met91Ile)
c.324G>A (p.Met108Ile)
 gnomAD v4
17g.81935104A=CA2278749870PYCR1c.362T= (p.Met121=)
c.443T= (p.Met148=)
c.179T= (p.Met60=)
c.272T= (p.Met91=)
c.323T= (p.Met108=)
17g.81935104A>CCA401539054PYCR1c.362T>G (p.Met121Arg)
c.443T>G (p.Met148Arg)
c.179T>G (p.Met60Arg)
c.272T>G (p.Met91Arg)
c.323T>G (p.Met108Arg)
 dbSNP
17g.81935104A>GCA401539056PYCR1c.362T>C (p.Met121Thr)
c.443T>C (p.Met148Thr)
c.179T>C (p.Met60Thr)
c.272T>C (p.Met91Thr)
c.323T>C (p.Met108Thr)
 COSMIC COSMIC
17g.81935104A>TCA401539058PYCR1c.362T>A (p.Met121Lys)
c.443T>A (p.Met148Lys)
c.179T>A (p.Met60Lys)
c.272T>A (p.Met91Lys)
c.323T>A (p.Met108Lys)
17g.81935105T>ACA401539060PYCR1c.361A>T (p.Met121Leu)
c.442A>T (p.Met148Leu)
c.178A>T (p.Met60Leu)
c.271A>T (p.Met91Leu)
c.322A>T (p.Met108Leu)
17g.81935105T>CCA401539065PYCR1c.361A>G (p.Met121Val)
c.442A>G (p.Met148Val)
c.178A>G (p.Met60Val)
c.271A>G (p.Met91Val)
c.322A>G (p.Met108Val)
 dbSNP gnomAD v3 gnomAD v4
17g.81935105T>GCA401539062PYCR1c.361A>C (p.Met121Leu)
c.442A>C (p.Met148Leu)
c.178A>C (p.Met60Leu)
c.271A>C (p.Met91Leu)
c.322A>C (p.Met108Leu)
17g.81935105T=CA2278749871PYCR1c.361A= (p.Met121=)
c.442A= (p.Met148=)
c.178A= (p.Met60=)
c.271A= (p.Met91=)
c.322A= (p.Met108=)
17g.81935106G>ACA8845459PYCR1c.360C>T (p.Cys120=)
c.441C>T (p.Cys147=)
c.177C>T (p.Cys59=)
c.270C>T (p.Cys90=)
c.321C>T (p.Cys107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935106G>CCA401539072PYCR1c.360C>G (p.Cys120Trp)
c.441C>G (p.Cys147Trp)
c.177C>G (p.Cys59Trp)
c.270C>G (p.Cys90Trp)
c.321C>G (p.Cys107Trp)
17g.81935106G=CA2278749872PYCR1c.360C= (p.Cys120=)
c.441C= (p.Cys147=)
c.177C= (p.Cys59=)
c.270C= (p.Cys90=)
c.321C= (p.Cys107=)
17g.81935106G>TCA401539075PYCR1c.360C>A (p.Cys120Ter)
c.441C>A (p.Cys147Ter)
c.177C>A (p.Cys59Ter)
c.270C>A (p.Cys90Ter)
c.321C>A (p.Cys107Ter)
 gnomAD v4
17g.81935107C>ACA401539078PYCR1c.359G>T (p.Cys120Phe)
c.440G>T (p.Cys147Phe)
c.176G>T (p.Cys59Phe)
c.269G>T (p.Cys90Phe)
c.320G>T (p.Cys107Phe)
 gnomAD v4
17g.81935107C>GCA401539080PYCR1c.359G>C (p.Cys120Ser)
c.440G>C (p.Cys147Ser)
c.176G>C (p.Cys59Ser)
c.269G>C (p.Cys90Ser)
c.320G>C (p.Cys107Ser)
17g.81935107C>TCA401539082PYCR1c.359G>A (p.Cys120Tyr)
c.440G>A (p.Cys147Tyr)
c.176G>A (p.Cys59Tyr)
c.269G>A (p.Cys90Tyr)
c.320G>A (p.Cys107Tyr)
 gnomAD v4
17g.81935108A>CCA401539084PYCR1c.358T>G (p.Cys120Gly)
c.439T>G (p.Cys147Gly)
c.175T>G (p.Cys59Gly)
c.268T>G (p.Cys90Gly)
c.319T>G (p.Cys107Gly)
17g.81935108A>GCA401539086PYCR1c.358T>C (p.Cys120Arg)
c.439T>C (p.Cys147Arg)
c.175T>C (p.Cys59Arg)
c.268T>C (p.Cys90Arg)
c.319T>C (p.Cys107Arg)
 ClinVar dbSNP gnomAD v4
17g.81935108A>TCA401539088PYCR1c.358T>A (p.Cys120Ser)
c.439T>A (p.Cys147Ser)
c.175T>A (p.Cys59Ser)
c.268T>A (p.Cys90Ser)
c.319T>A (p.Cys107Ser)
17g.81935109G>ACA502426661PYCR1c.357C>T (p.Arg119=)
c.438C>T (p.Arg146=)
c.174C>T (p.Arg58=)
c.267C>T (p.Arg89=)
c.318C>T (p.Arg106=)
17g.81935109G>CCA502426662PYCR1c.357C>G (p.Arg119=)
c.438C>G (p.Arg146=)
c.174C>G (p.Arg58=)
c.267C>G (p.Arg89=)
c.318C>G (p.Arg106=)
17g.81935109G>TCA502426663PYCR1c.357C>A (p.Arg119=)
c.438C>A (p.Arg146=)
c.174C>A (p.Arg58=)
c.267C>A (p.Arg89=)
c.318C>A (p.Arg106=)
 gnomAD v4
17g.81935110C>ACA401539090PYCR1c.356G>T (p.Arg119Leu)
c.437G>T (p.Arg146Leu)
c.173G>T (p.Arg58Leu)
c.266G>T (p.Arg89Leu)
c.317G>T (p.Arg106Leu)
17g.81935110C=CA2278749873PYCR1c.356G= (p.Arg119=)
c.437G= (p.Arg146=)
c.173G= (p.Arg58=)
c.266G= (p.Arg89=)
c.317G= (p.Arg106=)
17g.81935110C>GCA401539092PYCR1c.356G>C (p.Arg119Pro)
c.437G>C (p.Arg146Pro)
c.173G>C (p.Arg58Pro)
c.266G>C (p.Arg89Pro)
c.317G>C (p.Arg106Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.81935110C>TCA122956PYCR1c.356G>A (p.Arg119His)
c.437G>A (p.Arg146His)
c.173G>A (p.Arg58His)
c.266G>A (p.Arg89His)
c.317G>A (p.Arg106His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935111G>ACA8845460PYCR1c.355C>T (p.Arg119Cys)
c.436C>T (p.Arg146Cys)
c.172C>T (p.Arg58Cys)
c.265C>T (p.Arg89Cys)
c.316C>T (p.Arg106Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.81935111G>CCA122954PYCR1c.355C>G (p.Arg119Gly)
c.436C>G (p.Arg146Gly)
c.172C>G (p.Arg58Gly)
c.265C>G (p.Arg89Gly)
c.316C>G (p.Arg106Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.81935111G=CA2278749874PYCR1c.355C= (p.Arg119=)
c.436C= (p.Arg146=)
c.172C= (p.Arg58=)
c.265C= (p.Arg89=)
c.316C= (p.Arg106=)
17g.81935111G>TCA401539095PYCR1c.355C>A (p.Arg119Ser)
c.436C>A (p.Arg146Ser)
c.172C>A (p.Arg58Ser)
c.265C>A (p.Arg89Ser)
c.316C>A (p.Arg106Ser)
 gnomAD v4
17g.81935112G>ACA502426668PYCR1c.354C>T (p.Ile118=)
c.435C>T (p.Ile145=)
c.171C>T (p.Ile57=)
c.264C>T (p.Ile88=)
c.315C>T (p.Ile105=)
17g.81935112G>CCA401539096PYCR1c.354C>G (p.Ile118Met)
c.435C>G (p.Ile145Met)
c.171C>G (p.Ile57Met)
c.264C>G (p.Ile88Met)
c.315C>G (p.Ile105Met)
17g.81935112G>TCA502426669PYCR1c.354C>A (p.Ile118=)
c.435C>A (p.Ile145=)
c.171C>A (p.Ile57=)
c.264C>A (p.Ile88=)
c.315C>A (p.Ile105=)
17g.81935113A>CCA401539097PYCR1c.353T>G (p.Ile118Ser)
c.434T>G (p.Ile145Ser)
c.170T>G (p.Ile57Ser)
c.263T>G (p.Ile88Ser)
c.314T>G (p.Ile105Ser)
17g.81935113A>GCA401539099PYCR1c.353T>C (p.Ile118Thr)
c.434T>C (p.Ile145Thr)
c.170T>C (p.Ile57Thr)
c.263T>C (p.Ile88Thr)
c.314T>C (p.Ile105Thr)
17g.81935113A>TCA401539100PYCR1c.353T>A (p.Ile118Asn)
c.434T>A (p.Ile145Asn)
c.170T>A (p.Ile57Asn)
c.263T>A (p.Ile88Asn)
c.314T>A (p.Ile105Asn)
17g.81935114T>ACA401539102PYCR1c.352A>T (p.Ile118Phe)
c.433A>T (p.Ile145Phe)
c.169A>T (p.Ile57Phe)
c.262A>T (p.Ile88Phe)
c.313A>T (p.Ile105Phe)
17g.81935114T>CCA401539104PYCR1c.352A>G (p.Ile118Val)
c.433A>G (p.Ile145Val)
c.169A>G (p.Ile57Val)
c.262A>G (p.Ile88Val)
c.313A>G (p.Ile105Val)
17g.81935114T>GCA401539107PYCR1c.352A>C (p.Ile118Leu)
c.433A>C (p.Ile145Leu)
c.169A>C (p.Ile57Leu)
c.262A>C (p.Ile88Leu)
c.313A>C (p.Ile105Leu)
17g.81935114T=CA2278749875PYCR1c.352A= (p.Ile118=)
c.433A= (p.Ile145=)
c.169A= (p.Ile57=)
c.262A= (p.Ile88=)
c.313A= (p.Ile105=)
17g.81935115G>ACA502426673PYCR1c.351C>T (p.Val117=)
c.432C>T (p.Val144=)
c.168C>T (p.Val56=)
c.261C>T (p.Val87=)
c.312C>T (p.Val104=)
17g.81935115G>CCA502426674PYCR1c.351C>G (p.Val117=)
c.432C>G (p.Val144=)
c.168C>G (p.Val56=)
c.261C>G (p.Val87=)
c.312C>G (p.Val104=)
17g.81935115G>TCA502426675PYCR1c.351C>A (p.Val117=)
c.432C>A (p.Val144=)
c.168C>A (p.Val56=)
c.261C>A (p.Val87=)
c.312C>A (p.Val104=)
 gnomAD v4
17g.81935115dupCA986885644PYCR1c.351dup (p.Ile118HisfsTer?)
c.432dup (p.Ile145HisfsTer?)
c.168dup (p.Ile57HisfsTer?)
c.261dup (p.Ile88HisfsTer?)
c.312dup (p.Ile105HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
17g.81935116A>CCA401539109PYCR1c.350T>G (p.Val117Gly)
c.431T>G (p.Val144Gly)
c.167T>G (p.Val56Gly)
c.260T>G (p.Val87Gly)
c.311T>G (p.Val104Gly)
17g.81935116A>GCA401539111PYCR1c.350T>C (p.Val117Ala)
c.431T>C (p.Val144Ala)
c.167T>C (p.Val56Ala)
c.260T>C (p.Val87Ala)
c.311T>C (p.Val104Ala)
 gnomAD v4 COSMIC COSMIC
17g.81935116A>TCA401539112PYCR1c.350T>A (p.Val117Asp)
c.431T>A (p.Val144Asp)
c.167T>A (p.Val56Asp)
c.260T>A (p.Val87Asp)
c.311T>A (p.Val104Asp)
17g.81935117C>ACA401539115PYCR1c.349G>T (p.Val117Phe)
c.430G>T (p.Val144Phe)
c.166G>T (p.Val56Phe)
c.259G>T (p.Val87Phe)
c.310G>T (p.Val104Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.81935117C=CA2278749876PYCR1c.349G= (p.Val117=)
c.430G= (p.Val144=)
c.166G= (p.Val56=)
c.259G= (p.Val87=)
c.310G= (p.Val104=)
17g.81935117C>GCA401539119PYCR1c.349G>C (p.Val117Leu)
c.430G>C (p.Val144Leu)
c.166G>C (p.Val56Leu)
c.259G>C (p.Val87Leu)
c.310G>C (p.Val104Leu)
17g.81935117C>TCA401539121PYCR1c.349G>A (p.Val117Ile)
c.430G>A (p.Val144Ile)
c.166G>A (p.Val56Ile)
c.259G>A (p.Val87Ile)
c.310G>A (p.Val104Ile)
 gnomAD v4 COSMIC COSMIC
17g.81935119delCA2576428656PYCR1c.349del (p.Val117SerfsTer5)
c.430del (p.Val144SerfsTer5)
c.166del (p.Val56SerfsTer5)
c.259del (p.Val87SerfsTer5)
c.310del (p.Val104SerfsTer5)
17g.81935118C>ACA401539127PYCR1c.348G>T (p.Arg116Ser)
c.429G>T (p.Arg143Ser)
c.165G>T (p.Arg55Ser)
c.258G>T (p.Arg86Ser)
c.309G>T (p.Arg103Ser)
17g.81935118C=CA2278749877PYCR1c.348G= (p.Arg116=)
c.429G= (p.Arg143=)
c.165G= (p.Arg55=)
c.258G= (p.Arg86=)
c.309G= (p.Arg103=)
17g.81935118C>GCA401539125PYCR1c.348G>C (p.Arg116Ser)
c.429G>C (p.Arg143Ser)
c.165G>C (p.Arg55Ser)
c.258G>C (p.Arg86Ser)
c.309G>C (p.Arg103Ser)
 gnomAD v4
17g.81935118C>TCA8845461PYCR1c.348G>A (p.Arg116=)
c.429G>A (p.Arg143=)
c.165G>A (p.Arg55=)
c.258G>A (p.Arg86=)
c.309G>A (p.Arg103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935119C>ACA401539129PYCR1c.347G>T (p.Arg116Met)
c.428G>T (p.Arg143Met)
c.164G>T (p.Arg55Met)
c.257G>T (p.Arg86Met)
c.308G>T (p.Arg103Met)
 gnomAD v4
17g.81935119C>GCA401539130PYCR1c.347G>C (p.Arg116Thr)
c.428G>C (p.Arg143Thr)
c.164G>C (p.Arg55Thr)
c.257G>C (p.Arg86Thr)
c.308G>C (p.Arg103Thr)
17g.81935119C>TCA401539133PYCR1c.347G>A (p.Arg116Lys)
c.428G>A (p.Arg143Lys)
c.164G>A (p.Arg55Lys)
c.257G>A (p.Arg86Lys)
c.308G>A (p.Arg103Lys)
17g.81935120T>ACA401539141PYCR1c.346A>T (p.Arg116Trp)
c.427A>T (p.Arg143Trp)
c.163A>T (p.Arg55Trp)
c.256A>T (p.Arg86Trp)
c.346A>T
c.307A>T (p.Arg103Trp)
17g.81935120T>CCA401539144PYCR1c.346A>G (p.Arg116Gly)
c.427A>G (p.Arg143Gly)
c.163A>G (p.Arg55Gly)
c.256A>G (p.Arg86Gly)
c.346A>G
c.307A>G (p.Arg103Gly)
 ClinVar dbSNP gnomAD v4
17g.81935120T>GCA502426683PYCR1c.346A>C (p.Arg116=)
c.427A>C (p.Arg143=)
c.163A>C (p.Arg55=)
c.256A>C (p.Arg86=)
c.346A>C
c.307A>C (p.Arg103=)
17g.81935120T=CA2278749879PYCR1c.346A= (p.Arg116=)
c.427A= (p.Arg143=)
c.163A= (p.Arg55=)
c.256A= (p.Arg86=)
c.346A=
c.307A= (p.Arg103=)
17g.81935120_81935121delinsTGCA2278749878PYCR1c.345_346delinsCA (p.Pro115=)
c.426_427delinsCA (p.Pro142=)
c.162_163delinsCA (p.Pro54=)
c.255_256delinsCA (p.Pro85=)
c.306_307delinsCA (p.Pro102=)
17g.81935121G>ACA502426684PYCR1c.345C>T (p.Pro115=)
c.426C>T (p.Pro142=)
c.162C>T (p.Pro54=)
c.255C>T (p.Pro85=)
c.306C>T (p.Pro102=)
 gnomAD v4
17g.81935121G>CCA502426685PYCR1c.345C>G (p.Pro115=)
c.426C>G (p.Pro142=)
c.162C>G (p.Pro54=)
c.255C>G (p.Pro85=)
c.306C>G (p.Pro102=)
 ClinVar
17g.81935121G>TCA502426686PYCR1c.345C>A (p.Pro115=)
c.426C>A (p.Pro142=)
c.162C>A (p.Pro54=)
c.255C>A (p.Pro85=)
c.306C>A (p.Pro102=)
 gnomAD v4
17g.81935125delCA128701PYCR1c.345del (p.Arg116GlyfsTer6)
c.426del (p.Arg143GlyfsTer6)
c.162del (p.Arg55GlyfsTer6)
c.255del (p.Arg86GlyfsTer6)
c.345del (p.Pro115=)
c.306del (p.Arg103GlyfsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81935122G>ACA401539149PYCR1c.344C>T (p.Pro115Leu)
c.425C>T (p.Pro142Leu)
c.161C>T (p.Pro54Leu)
c.254C>T (p.Pro85Leu)
c.305C>T (p.Pro102Leu)
 gnomAD v4
17g.81935122G>CCA401539151PYCR1c.344C>G (p.Pro115Arg)
c.425C>G (p.Pro142Arg)
c.161C>G (p.Pro54Arg)
c.254C>G (p.Pro85Arg)
c.305C>G (p.Pro102Arg)
17g.81935122G>TCA401539154PYCR1c.344C>A (p.Pro115His)
c.425C>A (p.Pro142His)
c.161C>A (p.Pro54His)
c.254C>A (p.Pro85His)
c.305C>A (p.Pro102His)
17g.81935123G>ACA401539157PYCR1c.343C>T (p.Pro115Ser)
c.424C>T (p.Pro142Ser)
c.160C>T (p.Pro54Ser)
c.253C>T (p.Pro85Ser)
c.304C>T (p.Pro102Ser)
 dbSNP
17g.81935123G>CCA401539160PYCR1c.343C>G (p.Pro115Ala)
c.424C>G (p.Pro142Ala)
c.160C>G (p.Pro54Ala)
c.253C>G (p.Pro85Ala)
c.304C>G (p.Pro102Ala)
 dbSNP gnomAD v4
17g.81935123G=CA2278749880PYCR1c.343C= (p.Pro115=)
c.424C= (p.Pro142=)
c.160C= (p.Pro54=)
c.253C= (p.Pro85=)
c.304C= (p.Pro102=)
17g.81935123G>TCA401539163PYCR1c.343C>A (p.Pro115Thr)
c.424C>A (p.Pro142Thr)
c.160C>A (p.Pro54Thr)
c.253C>A (p.Pro85Thr)
c.304C>A (p.Pro102Thr)
 gnomAD v4

Number of alleles fetched