Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.81935025C>A | CA401538650 | PYCR1 | c.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 |
17 | g.81935025C= | CA2278749815 | PYCR1 | c.441G= (p.Arg147=) c.522G= (p.Arg174=) c.258G= (p.Arg86=) c.351G= (p.Arg117=) c.402G= (p.Arg134=) | |
17 | g.81935025C>G | CA401538655 | PYCR1 | c.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 |
17 | g.81935025C>T | CA295137763 | PYCR1 | c.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 |
17 | g.81935026C>A | CA401538661 | PYCR1 | c.440G>T (p.Arg147Met) c.521G>T (p.Arg174Met) c.257G>T (p.Arg86Met) c.350G>T (p.Arg117Met) c.401G>T (p.Arg134Met) | |
17 | g.81935026C= | CA2278749816 | PYCR1 | c.440G= (p.Arg147=) c.521G= (p.Arg174=) c.257G= (p.Arg86=) c.350G= (p.Arg117=) c.401G= (p.Arg134=) | |
17 | g.81935026C>G | CA401538664 | PYCR1 | c.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 |
17 | g.81935026C>T | CA401538665 | PYCR1 | c.440G>A (p.Arg147Lys) c.521G>A (p.Arg174Lys) c.257G>A (p.Arg86Lys) c.350G>A (p.Arg117Lys) c.401G>A (p.Arg134Lys) | |
17 | g.81935027T>A | CA401538672 | PYCR1 | c.439A>T (p.Arg147Trp) c.520A>T (p.Arg174Trp) c.256A>T (p.Arg86Trp) c.349A>T (p.Arg117Trp) c.400A>T (p.Arg134Trp) | |
17 | g.81935027T>C | CA401538669 | PYCR1 | c.439A>G (p.Arg147Gly) c.520A>G (p.Arg174Gly) c.256A>G (p.Arg86Gly) c.349A>G (p.Arg117Gly) c.400A>G (p.Arg134Gly) | |
17 | g.81935027T>G | CA502426490 | PYCR1 | c.439A>C (p.Arg147=) c.520A>C (p.Arg174=) c.256A>C (p.Arg86=) c.349A>C (p.Arg117=) c.400A>C (p.Arg134=) | |
17 | g.81935028C>A | CA502426492 | PYCR1 | c.438G>T (p.Gly146=) c.519G>T (p.Gly173=) c.255G>T (p.Gly85=) c.348G>T (p.Gly116=) c.399G>T (p.Gly133=) | |
17 | g.81935028C>G | CA502426493 | PYCR1 | c.438G>C (p.Gly146=) c.519G>C (p.Gly173=) c.255G>C (p.Gly85=) c.348G>C (p.Gly116=) c.399G>C (p.Gly133=) | |
17 | g.81935028C>T | CA502426494 | PYCR1 | c.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 |
17 | g.81935029C>A | CA401538674 | PYCR1 | c.437G>T (p.Gly146Val) c.518G>T (p.Gly173Val) c.254G>T (p.Gly85Val) c.347G>T (p.Gly116Val) c.398G>T (p.Gly133Val) | |
17 | g.81935029C>G | CA401538683 | PYCR1 | c.437G>C (p.Gly146Ala) c.518G>C (p.Gly173Ala) c.254G>C (p.Gly85Ala) c.347G>C (p.Gly116Ala) c.398G>C (p.Gly133Ala) | |
17 | g.81935029C>T | CA401538681 | PYCR1 | c.437G>A (p.Gly146Glu) c.518G>A (p.Gly173Glu) c.254G>A (p.Gly85Glu) c.347G>A (p.Gly116Glu) c.398G>A (p.Gly133Glu) | |
17 | g.81935030C>A | CA8845442 | PYCR1 | c.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 |
17 | g.81935030C= | CA2278749817 | PYCR1 | c.436G= (p.Gly146=) c.517G= (p.Gly173=) c.253G= (p.Gly85=) c.346G= (p.Gly116=) c.397G= (p.Gly133=) | |
17 | g.81935030C>G | CA401538689 | PYCR1 | c.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 |
17 | g.81935030C>T | CA295137765 | PYCR1 | c.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 |
17 | g.81935031G>A | CA8845443 | PYCR1 | c.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 |
17 | g.81935031G>C | CA401538692 | PYCR1 | c.435C>G (p.Asp145Glu) c.516C>G (p.Asp172Glu) c.252C>G (p.Asp84Glu) c.345C>G (p.Asp115Glu) c.396C>G (p.Asp132Glu) | |
17 | g.81935031G= | CA2278749818 | PYCR1 | c.435C= (p.Asp145=) c.516C= (p.Asp172=) c.252C= (p.Asp84=) c.345C= (p.Asp115=) c.396C= (p.Asp132=) | |
17 | g.81935031G>T | CA401538695 | PYCR1 | c.435C>A (p.Asp145Glu) c.516C>A (p.Asp172Glu) c.252C>A (p.Asp84Glu) c.345C>A (p.Asp115Glu) c.396C>A (p.Asp132Glu) | |
17 | g.81935032T>A | CA8845444 | PYCR1 | c.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 |
17 | g.81935032T>C | CA401538698 | PYCR1 | c.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 |
17 | g.81935032T>G | CA401538699 | PYCR1 | c.434A>C (p.Asp145Ala) c.515A>C (p.Asp172Ala) c.251A>C (p.Asp84Ala) c.344A>C (p.Asp115Ala) c.395A>C (p.Asp132Ala) | |
17 | g.81935032T= | CA2278749819 | PYCR1 | c.434A= (p.Asp145=) c.515A= (p.Asp172=) c.251A= (p.Asp84=) c.344A= (p.Asp115=) c.395A= (p.Asp132=) | |
17 | g.81935033C>A | CA401538700 | PYCR1 | c.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 |
17 | g.81935033C= | CA2278749820 | PYCR1 | c.433G= (p.Asp145=) c.514G= (p.Asp172=) c.250G= (p.Asp84=) c.343G= (p.Asp115=) c.394G= (p.Asp132=) | |
17 | g.81935033C>G | CA401538703 | PYCR1 | c.433G>C (p.Asp145His) c.514G>C (p.Asp172His) c.250G>C (p.Asp84His) c.343G>C (p.Asp115His) c.394G>C (p.Asp132His) | |
17 | g.81935033C>T | CA8845445 | PYCR1 | c.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 |
17 | g.81935034C>A | CA401538706 | PYCR1 | c.432G>T (p.Glu144Asp) c.513G>T (p.Glu171Asp) c.249G>T (p.Glu83Asp) c.342G>T (p.Glu114Asp) c.393G>T (p.Glu131Asp) | |
17 | g.81935034C= | CA2278749821 | PYCR1 | c.432G= (p.Glu144=) c.513G= (p.Glu171=) c.249G= (p.Glu83=) c.342G= (p.Glu114=) c.393G= (p.Glu131=) | |
17 | g.81935034C>G | CA401538707 | PYCR1 | c.432G>C (p.Glu144Asp) c.513G>C (p.Glu171Asp) c.249G>C (p.Glu83Asp) c.342G>C (p.Glu114Asp) c.393G>C (p.Glu131Asp) | |
17 | g.81935034C>T | CA502426503 | PYCR1 | c.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 |
17 | g.81935035T>A | CA401538708 | PYCR1 | c.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 |
17 | g.81935035T>C | CA401538709 | PYCR1 | c.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 |
17 | g.81935035T>G | CA401538711 | PYCR1 | c.431A>C (p.Glu144Ala) c.512A>C (p.Glu171Ala) c.248A>C (p.Glu83Ala) c.341A>C (p.Glu114Ala) c.392A>C (p.Glu131Ala) | |
17 | g.81935035T= | CA2278749822 | PYCR1 | c.431A= (p.Glu144=) c.512A= (p.Glu171=) c.248A= (p.Glu83=) c.341A= (p.Glu114=) c.392A= (p.Glu131=) | |
17 | g.81935035_81935036delinsTC | CA2278749823 | PYCR1 | c.430_431delinsGA (p.Glu144=) c.511_512delinsGA (p.Glu171=) c.247_248delinsGA (p.Glu83=) c.340_341delinsGA (p.Glu114=) c.391_392delinsGA (p.Glu131=) | |
17 | g.81935036C>A | CA401538712 | PYCR1 | c.430G>T (p.Glu144Ter) c.511G>T (p.Glu171Ter) c.247G>T (p.Glu83Ter) c.340G>T (p.Glu114Ter) c.391G>T (p.Glu131Ter) | |
17 | g.81935036C>G | CA401538713 | PYCR1 | c.430G>C (p.Glu144Gln) c.511G>C (p.Glu171Gln) c.247G>C (p.Glu83Gln) c.340G>C (p.Glu114Gln) c.391G>C (p.Glu131Gln) | |
17 | g.81935036C>T | CA401538714 | PYCR1 | c.430G>A (p.Glu144Lys) c.511G>A (p.Glu171Lys) c.247G>A (p.Glu83Lys) c.340G>A (p.Glu114Lys) c.391G>A (p.Glu131Lys) | |
17 | g.81935037del | CA2278749824 | PYCR1 | c.430del (p.Glu144ArgfsTer10) c.511del (p.Glu171ArgfsTer10) c.247del (p.Glu83ArgfsTer10) c.340del (p.Glu114ArgfsTer10) c.391del (p.Glu131ArgfsTer10) | dbSNP |
17 | g.81935037C>A | CA8845446 | PYCR1 | c.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 |
17 | g.81935037C= | CA2278749825 | PYCR1 | c.429G= (p.Val143=) c.510G= (p.Val170=) c.246G= (p.Val82=) c.339G= (p.Val113=) c.390G= (p.Val130=) | |
17 | g.81935037C>G | CA502426510 | PYCR1 | c.429G>C (p.Val143=) c.510G>C (p.Val170=) c.246G>C (p.Val82=) c.339G>C (p.Val113=) c.390G>C (p.Val130=) | |
17 | g.81935037C>T | CA502426511 | PYCR1 | c.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 |
17 | g.81935038A>C | CA401538715 | PYCR1 | c.428T>G (p.Val143Gly) c.509T>G (p.Val170Gly) c.245T>G (p.Val82Gly) c.338T>G (p.Val113Gly) c.389T>G (p.Val130Gly) | |
17 | g.81935038A>G | CA401538717 | PYCR1 | c.428T>C (p.Val143Ala) c.509T>C (p.Val170Ala) c.245T>C (p.Val82Ala) c.338T>C (p.Val113Ala) c.389T>C (p.Val130Ala) | |
17 | g.81935038A>T | CA401538718 | PYCR1 | c.428T>A (p.Val143Glu) c.509T>A (p.Val170Glu) c.245T>A (p.Val82Glu) c.338T>A (p.Val113Glu) c.389T>A (p.Val130Glu) | |
17 | g.81935039C>A | CA401538721 | PYCR1 | c.427G>T (p.Val143Leu) c.508G>T (p.Val170Leu) c.244G>T (p.Val82Leu) c.337G>T (p.Val113Leu) c.388G>T (p.Val130Leu) | |
17 | g.81935039C= | CA2278749826 | PYCR1 | c.427G= (p.Val143=) c.508G= (p.Val170=) c.244G= (p.Val82=) c.337G= (p.Val113=) c.388G= (p.Val130=) | |
17 | g.81935039C>G | CA401538724 | PYCR1 | c.427G>C (p.Val143Leu) c.508G>C (p.Val170Leu) c.244G>C (p.Val82Leu) c.337G>C (p.Val113Leu) c.388G>C (p.Val130Leu) | |
17 | g.81935039C>T | CA401538725 | PYCR1 | c.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 |
17 | g.81935040C>A | CA401538731 | PYCR1 | c.426G>T (p.Gln142His) c.507G>T (p.Gln169His) c.243G>T (p.Gln81His) c.336G>T (p.Gln112His) c.387G>T (p.Gln129His) | |
17 | g.81935040C= | CA2278749827 | PYCR1 | c.426G= (p.Gln142=) c.507G= (p.Gln169=) c.243G= (p.Gln81=) c.336G= (p.Gln112=) c.387G= (p.Gln129=) | |
17 | g.81935040C>G | CA401538728 | PYCR1 | c.426G>C (p.Gln142His) c.507G>C (p.Gln169His) c.243G>C (p.Gln81His) c.336G>C (p.Gln112His) c.387G>C (p.Gln129His) | |
17 | g.81935040C>T | CA502426517 | PYCR1 | c.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 |
17 | g.81935041T>A | CA8845447 | PYCR1 | c.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 |
17 | g.81935041T>C | CA401538734 | PYCR1 | c.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 |
17 | g.81935041T>G | CA401538733 | PYCR1 | c.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 |
17 | g.81935041T= | CA2278749828 | PYCR1 | c.425A= (p.Gln142=) c.506A= (p.Gln169=) c.242A= (p.Gln81=) c.335A= (p.Gln112=) c.386A= (p.Gln129=) | |
17 | g.81935042G>A | CA401538735 | PYCR1 | c.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 |
17 | g.81935042G>C | CA401538737 | PYCR1 | c.424C>G (p.Gln142Glu) c.505C>G (p.Gln169Glu) c.241C>G (p.Gln81Glu) c.334C>G (p.Gln112Glu) c.385C>G (p.Gln129Glu) | |
17 | g.81935042G= | CA2278749829 | PYCR1 | c.424C= (p.Gln142=) c.505C= (p.Gln169=) c.241C= (p.Gln81=) c.334C= (p.Gln112=) c.385C= (p.Gln129=) | |
17 | g.81935042G>T | CA401538736 | PYCR1 | c.424C>A (p.Gln142Lys) c.505C>A (p.Gln169Lys) c.241C>A (p.Gln81Lys) c.334C>A (p.Gln112Lys) c.385C>A (p.Gln129Lys) | |
17 | g.81935043G>A | CA502426519 | PYCR1 | c.423C>T (p.Ala141=) c.504C>T (p.Ala168=) c.240C>T (p.Ala80=) c.333C>T (p.Ala111=) c.384C>T (p.Ala128=) | |
17 | g.81935043G>C | CA502426520 | PYCR1 | c.423C>G (p.Ala141=) c.504C>G (p.Ala168=) c.240C>G (p.Ala80=) c.333C>G (p.Ala111=) c.384C>G (p.Ala128=) | |
17 | g.81935043G>T | CA502426521 | PYCR1 | c.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 |
17 | g.81935044G>A | CA401538739 | PYCR1 | c.422C>T (p.Ala141Val) c.503C>T (p.Ala168Val) c.239C>T (p.Ala80Val) c.332C>T (p.Ala111Val) c.383C>T (p.Ala128Val) | |
17 | g.81935044G>C | CA401538740 | PYCR1 | c.422C>G (p.Ala141Gly) c.503C>G (p.Ala168Gly) c.239C>G (p.Ala80Gly) c.332C>G (p.Ala111Gly) c.383C>G (p.Ala128Gly) | |
17 | g.81935044G>T | CA401538742 | PYCR1 | c.422C>A (p.Ala141Asp) c.503C>A (p.Ala168Asp) c.239C>A (p.Ala80Asp) c.332C>A (p.Ala111Asp) c.383C>A (p.Ala128Asp) | |
17 | g.81935045C>A | CA401538745 | PYCR1 | c.421G>T (p.Ala141Ser) c.502G>T (p.Ala168Ser) c.238G>T (p.Ala80Ser) c.331G>T (p.Ala111Ser) c.382G>T (p.Ala128Ser) | |
17 | g.81935045C= | CA2278749830 | PYCR1 | c.421G= (p.Ala141=) c.502G= (p.Ala168=) c.238G= (p.Ala80=) c.331G= (p.Ala111=) c.382G= (p.Ala128=) | |
17 | g.81935045C>G | CA401538747 | PYCR1 | c.421G>C (p.Ala141Pro) c.502G>C (p.Ala168Pro) c.238G>C (p.Ala80Pro) c.331G>C (p.Ala111Pro) c.382G>C (p.Ala128Pro) | |
17 | g.81935045C>T | CA401538750 | PYCR1 | c.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 |
17 | g.81935046G>A | CA8845448 | PYCR1 | c.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 |
17 | g.81935046G>C | CA401538754 | PYCR1 | c.420C>G (p.His140Gln) c.501C>G (p.His167Gln) c.237C>G (p.His79Gln) c.330C>G (p.His110Gln) c.381C>G (p.His127Gln) | |
17 | g.81935046G= | CA2278749831 | PYCR1 | c.420C= (p.His140=) c.501C= (p.His167=) c.237C= (p.His79=) c.330C= (p.His110=) c.381C= (p.His127=) | |
17 | g.81935046G>T | CA401538757 | PYCR1 | c.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 |
17 | g.81935047T>A | CA401538758 | PYCR1 | c.419A>T (p.His140Leu) c.500A>T (p.His167Leu) c.236A>T (p.His79Leu) c.329A>T (p.His110Leu) c.380A>T (p.His127Leu) | |
17 | g.81935047T>C | CA401538759 | PYCR1 | c.419A>G (p.His140Arg) c.500A>G (p.His167Arg) c.236A>G (p.His79Arg) c.329A>G (p.His110Arg) c.380A>G (p.His127Arg) | |
17 | g.81935047T>G | CA401538761 | PYCR1 | c.419A>C (p.His140Pro) c.500A>C (p.His167Pro) c.236A>C (p.His79Pro) c.329A>C (p.His110Pro) c.380A>C (p.His127Pro) | |
17 | g.81935048G>A | CA401538767 | PYCR1 | c.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) | |
17 | g.81935048G>C | CA8845449 | PYCR1 | c.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 |
17 | g.81935048G= | CA2278749832 | PYCR1 | c.418C= (p.His140=) c.499C= (p.His167=) c.235C= (p.His79=) c.328C= c.328C= (p.His110=) c.379C= (p.His127=) | |
17 | g.81935048G>T | CA401538764 | PYCR1 | c.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 |
17 | g.81935049C>A | CA502426524 | PYCR1 | c.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 |
17 | g.81935049C= | CA2278749833 | PYCR1 | c.417G= (p.Thr139=) c.498G= (p.Thr166=) c.234G= (p.Thr78=) c.327G= (p.Thr109=) c.378G= (p.Thr126=) | |
17 | g.81935049C>G | CA295137790 | PYCR1 | c.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 |
17 | g.81935049C>T | CA8845450 | PYCR1 | c.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 |
17 | g.81935050G>A | CA8845451 | PYCR1 | c.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 |
17 | g.81935050G>C | CA401538772 | PYCR1 | c.416C>G (p.Thr139Arg) c.497C>G (p.Thr166Arg) c.233C>G (p.Thr78Arg) c.326C>G (p.Thr109Arg) c.377C>G (p.Thr126Arg) | |
17 | g.81935050G= | CA2278749834 | PYCR1 | c.416C= (p.Thr139=) c.497C= (p.Thr166=) c.233C= (p.Thr78=) c.326C= (p.Thr109=) c.377C= (p.Thr126=) | |
17 | g.81935050G>T | CA401538775 | PYCR1 | c.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 |
17 | g.81935051T>A | CA401538776 | PYCR1 | c.415A>T (p.Thr139Ser) c.496A>T (p.Thr166Ser) c.232A>T (p.Thr78Ser) c.325A>T (p.Thr109Ser) c.376A>T (p.Thr126Ser) | |
17 | g.81935051T>C | CA401538778 | PYCR1 | c.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 |
17 | g.81935051T>G | CA401538780 | PYCR1 | c.415A>C (p.Thr139Pro) c.496A>C (p.Thr166Pro) c.232A>C (p.Thr78Pro) c.325A>C (p.Thr109Pro) c.376A>C (p.Thr126Pro) | |
17 | g.81935051T= | CA2278749835 | PYCR1 | c.415A= (p.Thr139=) c.496A= (p.Thr166=) c.232A= (p.Thr78=) c.325A= (p.Thr109=) c.376A= (p.Thr126=) | |
17 | g.81935052G>A | CA502426529 | PYCR1 | c.414C>T (p.Gly138=) c.495C>T (p.Gly165=) c.231C>T (p.Gly77=) c.324C>T (p.Gly108=) c.375C>T (p.Gly125=) | |
17 | g.81935052G>C | CA502426530 | PYCR1 | c.414C>G (p.Gly138=) c.495C>G (p.Gly165=) c.231C>G (p.Gly77=) c.324C>G (p.Gly108=) c.375C>G (p.Gly125=) | |
17 | g.81935052G>T | CA502426531 | PYCR1 | c.414C>A (p.Gly138=) c.495C>A (p.Gly165=) c.231C>A (p.Gly77=) c.324C>A (p.Gly108=) c.375C>A (p.Gly125=) | |
17 | g.81935053C>A | CA401538782 | PYCR1 | c.413G>T (p.Gly138Val) c.494G>T (p.Gly165Val) c.230G>T (p.Gly77Val) c.323G>T (p.Gly108Val) c.374G>T (p.Gly125Val) | |
17 | g.81935053C= | CA2278749836 | PYCR1 | c.413G= (p.Gly138=) c.494G= (p.Gly165=) c.230G= (p.Gly77=) c.323G= (p.Gly108=) c.374G= (p.Gly125=) | |
17 | g.81935053C>G | CA401538783 | PYCR1 | c.413G>C (p.Gly138Ala) c.494G>C (p.Gly165Ala) c.230G>C (p.Gly77Ala) c.323G>C (p.Gly108Ala) c.374G>C (p.Gly125Ala) | |
17 | g.81935053C>T | CA401538786 | PYCR1 | c.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 |
17 | g.81935054C>A | CA401538791 | PYCR1 | c.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 |
17 | g.81935054C= | CA2278749837 | PYCR1 | c.412G= (p.Gly138=) c.493G= (p.Gly165=) c.229G= (p.Gly77=) c.322G= (p.Gly108=) c.373G= (p.Gly125=) | |
17 | g.81935054C>G | CA401538790 | PYCR1 | c.412G>C (p.Gly138Arg) c.493G>C (p.Gly165Arg) c.229G>C (p.Gly77Arg) c.322G>C (p.Gly108Arg) c.373G>C (p.Gly125Arg) | |
17 | g.81935054C>T | CA401538788 | PYCR1 | c.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 |
17 | g.81935055T>A | CA502426538 | PYCR1 | c.411A>T (p.Thr137=) c.492A>T (p.Thr164=) c.228A>T (p.Thr76=) c.321A>T (p.Thr107=) c.372A>T (p.Thr124=) | |
17 | g.81935055T>C | CA502426537 | PYCR1 | c.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 |
17 | g.81935055T>G | CA502426536 | PYCR1 | c.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 |
17 | g.81935055T= | CA2278749838 | PYCR1 | c.411A= (p.Thr137=) c.492A= (p.Thr164=) c.228A= (p.Thr76=) c.321A= (p.Thr107=) c.372A= (p.Thr124=) | |
17 | g.81935056G>A | CA401538793 | PYCR1 | c.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 |
17 | g.81935056G>C | CA401538794 | PYCR1 | c.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 |
17 | g.81935056G= | CA2278749839 | PYCR1 | c.410C= (p.Thr137=) c.491C= (p.Thr164=) c.227C= (p.Thr76=) c.320C= (p.Thr107=) c.371C= (p.Thr124=) | |
17 | g.81935056G>T | CA401538797 | PYCR1 | c.410C>A (p.Thr137Lys) c.491C>A (p.Thr164Lys) c.227C>A (p.Thr76Lys) c.320C>A (p.Thr107Lys) c.371C>A (p.Thr124Lys) | |
17 | g.81935057T>A | CA401538798 | PYCR1 | c.409A>T (p.Thr137Ser) c.490A>T (p.Thr164Ser) c.226A>T (p.Thr76Ser) c.319A>T (p.Thr107Ser) c.370A>T (p.Thr124Ser) | |
17 | g.81935057T>C | CA401538800 | PYCR1 | c.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 |
17 | g.81935057T>G | CA401538801 | PYCR1 | c.409A>C (p.Thr137Pro) c.490A>C (p.Thr164Pro) c.226A>C (p.Thr76Pro) c.319A>C (p.Thr107Pro) c.370A>C (p.Thr124Pro) | |
17 | g.81935057T= | CA2278749840 | PYCR1 | c.409A= (p.Thr137=) c.490A= (p.Thr164=) c.226A= (p.Thr76=) c.319A= (p.Thr107=) c.370A= (p.Thr124=) | |
17 | g.81935058G>A | CA502426541 | PYCR1 | c.408C>T (p.Ala136=) c.489C>T (p.Ala163=) c.225C>T (p.Ala75=) c.318C>T (p.Ala106=) c.369C>T (p.Ala123=) | |
17 | g.81935058G>C | CA502426542 | PYCR1 | c.408C>G (p.Ala136=) c.489C>G (p.Ala163=) c.225C>G (p.Ala75=) c.318C>G (p.Ala106=) c.369C>G (p.Ala123=) | |
17 | g.81935058G>T | CA502426543 | PYCR1 | c.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 |
17 | g.81935059G>A | CA401538803 | PYCR1 | c.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 |
17 | g.81935059G>C | CA401538805 | PYCR1 | c.407C>G (p.Ala136Gly) c.488C>G (p.Ala163Gly) c.224C>G (p.Ala75Gly) c.317C>G (p.Ala106Gly) c.368C>G (p.Ala123Gly) | |
17 | g.81935059G>T | CA401538806 | PYCR1 | c.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 |
17 | g.81935060C>A | CA401538809 | PYCR1 | c.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 |
17 | g.81935060C= | CA2278749841 | PYCR1 | c.406G= (p.Ala136=) c.487G= (p.Ala163=) c.223G= (p.Ala75=) c.316G= (p.Ala106=) c.367G= (p.Ala123=) | |
17 | g.81935060C>G | CA401538811 | PYCR1 | c.406G>C (p.Ala136Pro) c.487G>C (p.Ala163Pro) c.223G>C (p.Ala75Pro) c.316G>C (p.Ala106Pro) c.367G>C (p.Ala123Pro) | |
17 | g.81935060C>T | CA401538813 | PYCR1 | c.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 |
17 | g.81935061A= | CA2278749842 | PYCR1 | c.405T= (p.Tyr135=) c.486T= (p.Tyr162=) c.222T= (p.Tyr74=) c.315T= (p.Tyr105=) c.366T= (p.Tyr122=) | |
17 | g.81935061A>C | CA401538816 | PYCR1 | c.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 |
17 | g.81935061A>G | CA295137801 | PYCR1 | c.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 |
17 | g.81935061A>T | CA401538814 | PYCR1 | c.405T>A (p.Tyr135Ter) c.486T>A (p.Tyr162Ter) c.222T>A (p.Tyr74Ter) c.315T>A (p.Tyr105Ter) c.366T>A (p.Tyr122Ter) | |
17 | g.81935062T>A | CA401538819 | PYCR1 | c.404A>T (p.Tyr135Phe) c.485A>T (p.Tyr162Phe) c.221A>T (p.Tyr74Phe) c.314A>T (p.Tyr105Phe) c.365A>T (p.Tyr122Phe) | |
17 | g.81935062T>C | CA401538820 | PYCR1 | c.404A>G (p.Tyr135Cys) c.485A>G (p.Tyr162Cys) c.221A>G (p.Tyr74Cys) c.314A>G (p.Tyr105Cys) c.365A>G (p.Tyr122Cys) | |
17 | g.81935062T>G | CA401538823 | PYCR1 | c.404A>C (p.Tyr135Ser) c.485A>C (p.Tyr162Ser) c.221A>C (p.Tyr74Ser) c.314A>C (p.Tyr105Ser) c.365A>C (p.Tyr122Ser) | |
17 | g.81935063A>C | CA401538824 | PYCR1 | c.403T>G (p.Tyr135Asp) c.484T>G (p.Tyr162Asp) c.220T>G (p.Tyr74Asp) c.313T>G (p.Tyr105Asp) c.364T>G (p.Tyr122Asp) | |
17 | g.81935063A>G | CA401538826 | PYCR1 | c.403T>C (p.Tyr135His) c.484T>C (p.Tyr162His) c.220T>C (p.Tyr74His) c.313T>C (p.Tyr105His) c.364T>C (p.Tyr122His) | |
17 | g.81935063A>T | CA401538827 | PYCR1 | c.403T>A (p.Tyr135Asn) c.484T>A (p.Tyr162Asn) c.220T>A (p.Tyr74Asn) c.313T>A (p.Tyr105Asn) c.364T>A (p.Tyr122Asn) | |
17 | g.81935064C>A | CA502426549 | PYCR1 | c.402G>T (p.Val134=) c.483G>T (p.Val161=) c.219G>T (p.Val73=) c.312G>T (p.Val104=) c.363G>T (p.Val121=) | |
17 | g.81935064C>G | CA502426551 | PYCR1 | c.402G>C (p.Val134=) c.483G>C (p.Val161=) c.219G>C (p.Val73=) c.312G>C (p.Val104=) c.363G>C (p.Val121=) | |
17 | g.81935064C>T | CA502426553 | PYCR1 | c.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 |
17 | g.81935065A>C | CA401538829 | PYCR1 | c.401T>G (p.Val134Gly) c.482T>G (p.Val161Gly) c.218T>G (p.Val73Gly) c.311T>G (p.Val104Gly) c.362T>G (p.Val121Gly) | |
17 | g.81935065A>G | CA401538832 | PYCR1 | c.401T>C (p.Val134Ala) c.482T>C (p.Val161Ala) c.218T>C (p.Val73Ala) c.311T>C (p.Val104Ala) c.362T>C (p.Val121Ala) | |
17 | g.81935065A>T | CA401538835 | PYCR1 | c.401T>A (p.Val134Glu) c.482T>A (p.Val161Glu) c.218T>A (p.Val73Glu) c.311T>A (p.Val104Glu) c.362T>A (p.Val121Glu) | |
17 | g.81935065_81935072delinsACGGTGGC | CA2278749843 | PYCR1 | c.394_401delinsGCCACCGT (p.Ala132=) c.475_482delinsGCCACCGT (p.Ala159=) c.211_218delinsGCCACCGT (p.Ala71=) c.304_311delinsGCCACCGT (p.Ala102=) c.355_362delinsGCCACCGT (p.Ala119=) | |
17 | g.81935066C>A | CA401538837 | PYCR1 | c.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 |
17 | g.81935066C= | CA2278749844 | PYCR1 | c.400G= (p.Val134=) c.481G= (p.Val161=) c.217G= (p.Val73=) c.310G= (p.Val104=) c.361G= (p.Val121=) | |
17 | g.81935066C>G | CA401538839 | PYCR1 | c.400G>C (p.Val134Leu) c.481G>C (p.Val161Leu) c.217G>C (p.Val73Leu) c.310G>C (p.Val104Leu) c.361G>C (p.Val121Leu) | |
17 | g.81935066C>T | CA8845452 | PYCR1 | c.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 |
17 | g.81935067_81935073del | CA628024683 | PYCR1 | c.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 |
17 | g.81935067G>A | CA8845453 | PYCR1 | c.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 |
17 | g.81935067G>C | CA502426556 | PYCR1 | c.399C>G (p.Thr133=) c.480C>G (p.Thr160=) c.216C>G (p.Thr72=) c.309C>G (p.Thr103=) c.360C>G (p.Thr120=) | |
17 | g.81935067G= | CA2278749845 | PYCR1 | c.399C= (p.Thr133=) c.480C= (p.Thr160=) c.216C= (p.Thr72=) c.309C= (p.Thr103=) c.360C= (p.Thr120=) | |
17 | g.81935067G>T | CA502426559 | PYCR1 | c.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 |
17 | g.81935068G>A | CA401538849 | PYCR1 | c.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 |
17 | g.81935068G>C | CA401538845 | PYCR1 | c.398C>G (p.Thr133Ser) c.479C>G (p.Thr160Ser) c.215C>G (p.Thr72Ser) c.308C>G (p.Thr103Ser) c.359C>G (p.Thr120Ser) | |
17 | g.81935068G= | CA2278749846 | PYCR1 | c.398C= (p.Thr133=) c.479C= (p.Thr160=) c.215C= (p.Thr72=) c.308C= (p.Thr103=) c.359C= (p.Thr120=) | |
17 | g.81935068G>T | CA401538844 | PYCR1 | c.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 |
17 | g.81935069T>A | CA401538853 | PYCR1 | c.397A>T (p.Thr133Ser) c.478A>T (p.Thr160Ser) c.214A>T (p.Thr72Ser) c.307A>T (p.Thr103Ser) c.358A>T (p.Thr120Ser) | |
17 | g.81935069T>C | CA401538851 | PYCR1 | c.397A>G (p.Thr133Ala) c.478A>G (p.Thr160Ala) c.214A>G (p.Thr72Ala) c.307A>G (p.Thr103Ala) c.358A>G (p.Thr120Ala) | |
17 | g.81935069T>G | CA401538854 | PYCR1 | c.397A>C (p.Thr133Pro) c.478A>C (p.Thr160Pro) c.214A>C (p.Thr72Pro) c.307A>C (p.Thr103Pro) c.358A>C (p.Thr120Pro) | |
17 | g.81935070G>A | CA502426562 | PYCR1 | c.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 |
17 | g.81935070G>C | CA502426564 | PYCR1 | c.396C>G (p.Ala132=) c.477C>G (p.Ala159=) c.213C>G (p.Ala71=) c.306C>G (p.Ala102=) c.357C>G (p.Ala119=) | |
17 | g.81935070G>T | CA502426566 | PYCR1 | c.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 |
17 | g.81935071del | CA2810645703 | PYCR1 | c.396del (p.Thr133ProfsTer21) c.477del (p.Thr160ProfsTer21) c.213del (p.Thr72ProfsTer21) c.306del (p.Thr103ProfsTer?) c.306del (p.Thr103ProfsTer21) c.357del (p.Thr120ProfsTer21) | |
17 | g.81935071G>A | CA401538856 | PYCR1 | c.395C>T (p.Ala132Val) c.476C>T (p.Ala159Val) c.212C>T (p.Ala71Val) c.305C>T (p.Ala102Val) c.356C>T (p.Ala119Val) | |
17 | g.81935071G>C | CA401538857 | PYCR1 | c.395C>G (p.Ala132Gly) c.476C>G (p.Ala159Gly) c.212C>G (p.Ala71Gly) c.305C>G (p.Ala102Gly) c.356C>G (p.Ala119Gly) | |
17 | g.81935071G= | CA2278749847 | PYCR1 | c.395C= (p.Ala132=) c.476C= (p.Ala159=) c.212C= (p.Ala71=) c.305C= (p.Ala102=) c.356C= (p.Ala119=) | |
17 | g.81935071G>T | CA401538859 | PYCR1 | c.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 |
17 | g.81935072C>A | CA401538861 | PYCR1 | c.394G>T (p.Ala132Ser) c.475G>T (p.Ala159Ser) c.211G>T (p.Ala71Ser) c.304G>T (p.Ala102Ser) c.355G>T (p.Ala119Ser) | |
17 | g.81935072C= | CA2278749848 | PYCR1 | c.394G= (p.Ala132=) c.475G= (p.Ala159=) c.211G= (p.Ala71=) c.304G= (p.Ala102=) c.355G= (p.Ala119=) | |
17 | g.81935072C>G | CA401538863 | PYCR1 | c.394G>C (p.Ala132Pro) c.475G>C (p.Ala159Pro) c.211G>C (p.Ala71Pro) c.304G>C (p.Ala102Pro) c.355G>C (p.Ala119Pro) | |
17 | g.81935072C>T | CA401538864 | PYCR1 | c.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 |
17 | g.81935076del | CA2640547961 | PYCR1 | c.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 |
17 | g.81935073C>A | CA502426568 | PYCR1 | c.393G>T (p.Gly131=) c.474G>T (p.Gly158=) c.210G>T (p.Gly70=) c.303G>T (p.Gly101=) c.354G>T (p.Gly118=) | |
17 | g.81935073C= | CA2278749849 | PYCR1 | c.393G= (p.Gly131=) c.474G= (p.Gly158=) c.210G= (p.Gly70=) c.303G= (p.Gly101=) c.354G= (p.Gly118=) | |
17 | g.81935073C>G | CA502426569 | PYCR1 | c.393G>C (p.Gly131=) c.474G>C (p.Gly158=) c.210G>C (p.Gly70=) c.303G>C (p.Gly101=) c.354G>C (p.Gly118=) | |
17 | g.81935073C>T | CA502426571 | PYCR1 | c.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 |
17 | g.81935074C>A | CA401538865 | PYCR1 | c.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 |
17 | g.81935074C= | CA2278749850 | PYCR1 | c.392G= (p.Gly131=) c.473G= (p.Gly158=) c.209G= (p.Gly70=) c.302G= (p.Gly101=) c.353G= (p.Gly118=) | |
17 | g.81935074C>G | CA401538868 | PYCR1 | c.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 |
17 | g.81935074C>T | CA401538871 | PYCR1 | c.392G>A (p.Gly131Glu) c.473G>A (p.Gly158Glu) c.209G>A (p.Gly70Glu) c.302G>A (p.Gly101Glu) c.353G>A (p.Gly118Glu) | |
17 | g.81935075C>A | CA401538873 | PYCR1 | c.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 |
17 | g.81935075C= | CA2278749851 | PYCR1 | c.391G= (p.Gly131=) c.472G= (p.Gly158=) c.208G= (p.Gly70=) c.301G= (p.Gly101=) c.352G= (p.Gly118=) | |
17 | g.81935075C>G | CA401538881 | PYCR1 | c.391G>C (p.Gly131Arg) c.472G>C (p.Gly158Arg) c.208G>C (p.Gly70Arg) c.301G>C (p.Gly101Arg) c.352G>C (p.Gly118Arg) | |
17 | g.81935075C>T | CA401538884 | PYCR1 | c.391G>A (p.Gly131Arg) c.472G>A (p.Gly158Arg) c.208G>A (p.Gly70Arg) c.301G>A (p.Gly101Arg) c.352G>A (p.Gly118Arg) | |
17 | g.81935076C>A | CA401538889 | PYCR1 | c.390G>T (p.Glu130Asp) c.471G>T (p.Glu157Asp) c.207G>T (p.Glu69Asp) c.300G>T (p.Glu100Asp) c.351G>T (p.Glu117Asp) | |
17 | g.81935076C>G | CA401538886 | PYCR1 | c.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 |
17 | g.81935076C>T | CA502426574 | PYCR1 | c.390G>A (p.Glu130=) c.471G>A (p.Glu157=) c.207G>A (p.Glu69=) c.300G>A (p.Glu100=) c.351G>A (p.Glu117=) | |
17 | g.81935077T>A | CA401538895 | PYCR1 | c.389A>T (p.Glu130Val) c.470A>T (p.Glu157Val) c.206A>T (p.Glu69Val) c.299A>T (p.Glu100Val) c.350A>T (p.Glu117Val) | |
17 | g.81935077T>C | CA401538902 | PYCR1 | c.389A>G (p.Glu130Gly) c.470A>G (p.Glu157Gly) c.206A>G (p.Glu69Gly) c.299A>G (p.Glu100Gly) c.350A>G (p.Glu117Gly) | |
17 | g.81935077T>G | CA401538904 | PYCR1 | c.389A>C (p.Glu130Ala) c.470A>C (p.Glu157Ala) c.206A>C (p.Glu69Ala) c.299A>C (p.Glu100Ala) c.350A>C (p.Glu117Ala) | |
17 | g.81935077_81935078delinsTC | CA2278749852 | PYCR1 | c.388_389delinsGA (p.Glu130=) c.469_470delinsGA (p.Glu157=) c.205_206delinsGA (p.Glu69=) c.298_299delinsGA (p.Glu100=) c.349_350delinsGA (p.Glu117=) | |
17 | g.81935078C>A | CA401538907 | PYCR1 | c.388G>T (p.Glu130Ter) c.469G>T (p.Glu157Ter) c.205G>T (p.Glu69Ter) c.298G>T (p.Glu100Ter) c.349G>T (p.Glu117Ter) | |
17 | g.81935078C>G | CA401538909 | PYCR1 | c.388G>C (p.Glu130Gln) c.469G>C (p.Glu157Gln) c.205G>C (p.Glu69Gln) c.298G>C (p.Glu100Gln) c.349G>C (p.Glu117Gln) | |
17 | g.81935078C>T | CA401538911 | PYCR1 | c.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 |
17 | g.81935080del | CA8845454 | PYCR1 | c.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 |
17 | g.81935079C>A | CA502426581 | PYCR1 | c.387G>T (p.Arg129=) c.468G>T (p.Arg156=) c.204G>T (p.Arg68=) c.297G>T (p.Arg99=) c.348G>T (p.Arg116=) | |
17 | g.81935079C= | CA2278749853 | PYCR1 | c.387G= (p.Arg129=) c.468G= (p.Arg156=) c.204G= (p.Arg68=) c.297G= (p.Arg99=) c.348G= (p.Arg116=) | |
17 | g.81935079C>G | CA502426582 | PYCR1 | c.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 |
17 | g.81935079C>T | CA502426584 | PYCR1 | c.387G>A (p.Arg129=) c.468G>A (p.Arg156=) c.204G>A (p.Arg68=) c.297G>A (p.Arg99=) c.348G>A (p.Arg116=) | |
17 | g.81935079_81935080insTGCG | CA2278749854 | PYCR1 | c.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 |
17 | g.81935080C>A | CA401538915 | PYCR1 | c.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 |
17 | g.81935080C= | CA2278749855 | PYCR1 | c.386G= (p.Arg129=) c.467G= (p.Arg156=) c.203G= (p.Arg68=) c.296G= (p.Arg99=) c.347G= (p.Arg116=) | |
17 | g.81935080C>G | CA401538919 | PYCR1 | c.386G>C (p.Arg129Pro) c.467G>C (p.Arg156Pro) c.203G>C (p.Arg68Pro) c.296G>C (p.Arg99Pro) c.347G>C (p.Arg116Pro) | |
17 | g.81935080C>T | CA8845455 | PYCR1 | c.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 |
17 | g.81935080_81935081delinsCG | CA2278749856 | PYCR1 | c.385_386delinsCG (p.Arg129=) c.466_467delinsCG (p.Arg156=) c.202_203delinsCG (p.Arg68=) c.295_296delinsCG (p.Arg99=) c.346_347delinsCG (p.Arg116=) | |
17 | g.81935081del | CA628024688 | PYCR1 | c.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 |
17 | g.81935081G>A | CA8845456 | PYCR1 | c.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 |
17 | g.81935081G>C | CA401538924 | PYCR1 | c.385C>G (p.Arg129Gly) c.466C>G (p.Arg156Gly) c.202C>G (p.Arg68Gly) c.295C>G (p.Arg99Gly) c.346C>G (p.Arg116Gly) | |
17 | g.81935081G= | CA2278749857 | PYCR1 | c.385C= (p.Arg129=) c.466C= (p.Arg156=) c.202C= (p.Arg68=) c.295C= (p.Arg99=) c.346C= (p.Arg116=) | |
17 | g.81935081G>T | CA502426590 | PYCR1 | c.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 |
17 | g.81935082C>A | CA502426591 | PYCR1 | c.384G>T (p.Val128=) c.465G>T (p.Val155=) c.201G>T (p.Val67=) c.294G>T (p.Val98=) c.345G>T (p.Val115=) | |
17 | g.81935082C>G | CA502426592 | PYCR1 | c.384G>C (p.Val128=) c.465G>C (p.Val155=) c.201G>C (p.Val67=) c.294G>C (p.Val98=) c.345G>C (p.Val115=) | |
17 | g.81935082C>T | CA502426594 | PYCR1 | c.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 |
17 | g.81935083A= | CA2278749858 | PYCR1 | c.383T= (p.Val128=) c.464T= (p.Val155=) c.200T= (p.Val67=) c.293T= (p.Val98=) c.344T= (p.Val115=) | |
17 | g.81935083A>C | CA401538927 | PYCR1 | c.383T>G (p.Val128Gly) c.464T>G (p.Val155Gly) c.200T>G (p.Val67Gly) c.293T>G (p.Val98Gly) c.344T>G (p.Val115Gly) | |
17 | g.81935083A>G | CA401538928 | PYCR1 | c.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 |
17 | g.81935083A>T | CA401538925 | PYCR1 | c.383T>A (p.Val128Glu) c.464T>A (p.Val155Glu) c.200T>A (p.Val67Glu) c.293T>A (p.Val98Glu) c.344T>A (p.Val115Glu) | |
17 | g.81935084C>A | CA401538931 | PYCR1 | c.382G>T (p.Val128Leu) c.463G>T (p.Val155Leu) c.199G>T (p.Val67Leu) c.292G>T (p.Val98Leu) c.343G>T (p.Val115Leu) | |
17 | g.81935084C= | CA2278749859 | PYCR1 | c.382G= (p.Val128=) c.463G= (p.Val155=) c.199G= (p.Val67=) c.292G= (p.Val98=) c.343G= (p.Val115=) | |
17 | g.81935084C>G | CA401538932 | PYCR1 | c.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 |
17 | g.81935084C>T | CA401538936 | PYCR1 | c.382G>A (p.Val128Met) c.463G>A (p.Val155Met) c.199G>A (p.Val67Met) c.292G>A (p.Val98Met) c.343G>A (p.Val115Met) | |
17 | g.81935085C>A | CA502426602 | PYCR1 | c.381G>T (p.Val127=) c.462G>T (p.Val154=) c.198G>T (p.Val66=) c.291G>T (p.Val97=) c.342G>T (p.Val114=) | |
17 | g.81935085C= | CA2278749860 | PYCR1 | c.381G= (p.Val127=) c.462G= (p.Val154=) c.198G= (p.Val66=) c.291G= (p.Val97=) c.342G= (p.Val114=) | |
17 | g.81935085C>G | CA502426603 | PYCR1 | c.381G>C (p.Val127=) c.462G>C (p.Val154=) c.198G>C (p.Val66=) c.291G>C (p.Val97=) c.342G>C (p.Val114=) | |
17 | g.81935085C>T | CA502426604 | PYCR1 | c.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 |
17 | g.81935086A>C | CA401538939 | PYCR1 | c.380T>G (p.Val127Gly) c.461T>G (p.Val154Gly) c.197T>G (p.Val66Gly) c.290T>G (p.Val97Gly) c.341T>G (p.Val114Gly) | |
17 | g.81935086A>G | CA401538941 | PYCR1 | c.380T>C (p.Val127Ala) c.461T>C (p.Val154Ala) c.197T>C (p.Val66Ala) c.290T>C (p.Val97Ala) c.341T>C (p.Val114Ala) | |
17 | g.81935086A>T | CA401538944 | PYCR1 | c.380T>A (p.Val127Glu) c.461T>A (p.Val154Glu) c.197T>A (p.Val66Glu) c.290T>A (p.Val97Glu) c.341T>A (p.Val114Glu) | |
17 | g.81935087C>A | CA401538948 | PYCR1 | c.379G>T (p.Val127Leu) c.460G>T (p.Val154Leu) c.196G>T (p.Val66Leu) c.289G>T (p.Val97Leu) c.340G>T (p.Val114Leu) | |
17 | g.81935087C= | CA2278749861 | PYCR1 | c.379G= (p.Val127=) c.460G= (p.Val154=) c.196G= (p.Val66=) c.289G= (p.Val97=) c.340G= (p.Val114=) | |
17 | g.81935087C>G | CA401538959 | PYCR1 | c.379G>C (p.Val127Leu) c.460G>C (p.Val154Leu) c.196G>C (p.Val66Leu) c.289G>C (p.Val97Leu) c.340G>C (p.Val114Leu) | |
17 | g.81935087C>T | CA8845457 | PYCR1 | c.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 |
17 | g.81935088G>A | CA8845458 | PYCR1 | c.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 |
17 | g.81935088G>C | CA502426613 | PYCR1 | c.378C>G (p.Val126=) c.459C>G (p.Val153=) c.195C>G (p.Val65=) c.288C>G (p.Val96=) c.339C>G (p.Val113=) | |
17 | g.81935088G= | CA2278749862 | PYCR1 | c.378C= (p.Val126=) c.459C= (p.Val153=) c.195C= (p.Val65=) c.288C= (p.Val96=) c.339C= (p.Val113=) | |
17 | g.81935088G>T | CA502426614 | PYCR1 | c.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 |
17 | g.81935089A>C | CA401538965 | PYCR1 | c.377T>G (p.Val126Gly) c.458T>G (p.Val153Gly) c.194T>G (p.Val65Gly) c.287T>G (p.Val96Gly) c.338T>G (p.Val113Gly) | |
17 | g.81935089A>G | CA401538970 | PYCR1 | c.377T>C (p.Val126Ala) c.458T>C (p.Val153Ala) c.194T>C (p.Val65Ala) c.287T>C (p.Val96Ala) c.338T>C (p.Val113Ala) | |
17 | g.81935089A>T | CA401538972 | PYCR1 | c.377T>A (p.Val126Asp) c.458T>A (p.Val153Asp) c.194T>A (p.Val65Asp) c.287T>A (p.Val96Asp) c.338T>A (p.Val113Asp) | |
17 | g.81935090C>A | CA401538979 | PYCR1 | c.376G>T (p.Val126Phe) c.457G>T (p.Val153Phe) c.193G>T (p.Val65Phe) c.286G>T (p.Val96Phe) c.337G>T (p.Val113Phe) | |
17 | g.81935090C= | CA2278749863 | PYCR1 | c.376G= (p.Val126=) c.457G= (p.Val153=) c.193G= (p.Val65=) c.286G= (p.Val96=) c.337G= (p.Val113=) | |
17 | g.81935090C>G | CA401538977 | PYCR1 | c.376G>C (p.Val126Leu) c.457G>C (p.Val153Leu) c.193G>C (p.Val65Leu) c.286G>C (p.Val96Leu) c.337G>C (p.Val113Leu) | |
17 | g.81935090C>T | CA401538974 | PYCR1 | c.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 |
17 | g.81935091T>A | CA502426617 | PYCR1 | c.375A>T (p.Pro125=) c.456A>T (p.Pro152=) c.192A>T (p.Pro64=) c.285A>T (p.Pro95=) c.336A>T (p.Pro112=) | |
17 | g.81935091T>C | CA502426618 | PYCR1 | c.375A>G (p.Pro125=) c.456A>G (p.Pro152=) c.192A>G (p.Pro64=) c.285A>G (p.Pro95=) c.336A>G (p.Pro112=) | |
17 | g.81935091T>G | CA502426619 | PYCR1 | c.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 |
17 | g.81935091T= | CA2278749864 | PYCR1 | c.375A= (p.Pro125=) c.456A= (p.Pro152=) c.192A= (p.Pro64=) c.285A= (p.Pro95=) c.336A= (p.Pro112=) | |
17 | g.81935092G>A | CA401538984 | PYCR1 | c.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 |
17 | g.81935092G>C | CA401538985 | PYCR1 | c.374C>G (p.Pro125Arg) c.455C>G (p.Pro152Arg) c.191C>G (p.Pro64Arg) c.284C>G (p.Pro95Arg) c.335C>G (p.Pro112Arg) | |
17 | g.81935092G>T | CA401538987 | PYCR1 | c.374C>A (p.Pro125Gln) c.455C>A (p.Pro152Gln) c.191C>A (p.Pro64Gln) c.284C>A (p.Pro95Gln) c.335C>A (p.Pro112Gln) | |
17 | g.81935093del | CA2576428655 | PYCR1 | c.374del (p.Pro125GlnfsTer29) c.455del (p.Pro152GlnfsTer29) c.191del (p.Pro64GlnfsTer29) c.284del (p.Pro95GlnfsTer?) c.284del (p.Pro95GlnfsTer29) c.335del (p.Pro112GlnfsTer29) | |
17 | g.81935093G>A | CA401538989 | PYCR1 | c.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 |
17 | g.81935093G>C | CA401538991 | PYCR1 | c.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 |
17 | g.81935093G= | CA2278749865 | PYCR1 | c.373C= (p.Pro125=) c.454C= (p.Pro152=) c.190C= (p.Pro64=) c.283C= (p.Pro95=) c.334C= (p.Pro112=) | |
17 | g.81935093G>T | CA401538995 | PYCR1 | c.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 |
17 | g.81935094A>C | CA502426623 | PYCR1 | c.372T>G (p.Thr124=) c.453T>G (p.Thr151=) c.189T>G (p.Thr63=) c.282T>G (p.Thr94=) c.333T>G (p.Thr111=) | |
17 | g.81935094A>G | CA502426624 | PYCR1 | c.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 |
17 | g.81935094A>T | CA502426625 | PYCR1 | c.372T>A (p.Thr124=) c.453T>A (p.Thr151=) c.189T>A (p.Thr63=) c.282T>A (p.Thr94=) c.333T>A (p.Thr111=) | |
17 | g.81935095G>A | CA401538999 | PYCR1 | c.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 |
17 | g.81935095G>C | CA401539001 | PYCR1 | c.371C>G (p.Thr124Ser) c.452C>G (p.Thr151Ser) c.188C>G (p.Thr63Ser) c.281C>G (p.Thr94Ser) c.332C>G (p.Thr111Ser) | |
17 | g.81935095G= | CA2278749866 | PYCR1 | c.371C= (p.Thr124=) c.452C= (p.Thr151=) c.188C= (p.Thr63=) c.281C= (p.Thr94=) c.332C= (p.Thr111=) | |
17 | g.81935095G>T | CA401539003 | PYCR1 | c.371C>A (p.Thr124Asn) c.452C>A (p.Thr151Asn) c.188C>A (p.Thr63Asn) c.281C>A (p.Thr94Asn) c.332C>A (p.Thr111Asn) | |
17 | g.81935096T>A | CA401539007 | PYCR1 | c.370A>T (p.Thr124Ser) c.451A>T (p.Thr151Ser) c.187A>T (p.Thr63Ser) c.280A>T (p.Thr94Ser) c.331A>T (p.Thr111Ser) | |
17 | g.81935096T>C | CA401539009 | PYCR1 | c.370A>G (p.Thr124Ala) c.451A>G (p.Thr151Ala) c.187A>G (p.Thr63Ala) c.280A>G (p.Thr94Ala) c.331A>G (p.Thr111Ala) | |
17 | g.81935096T>G | CA401539010 | PYCR1 | c.370A>C (p.Thr124Pro) c.451A>C (p.Thr151Pro) c.187A>C (p.Thr63Pro) c.280A>C (p.Thr94Pro) c.331A>C (p.Thr111Pro) | |
17 | g.81935097G>A | CA502426634 | PYCR1 | c.369C>T (p.Asn123=) c.450C>T (p.Asn150=) c.186C>T (p.Asn62=) c.279C>T (p.Asn93=) c.330C>T (p.Asn110=) | |
17 | g.81935097G>C | CA401539013 | PYCR1 | c.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 |
17 | g.81935097G>T | CA401539015 | PYCR1 | c.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 |
17 | g.81935098T>A | CA401539021 | PYCR1 | c.368A>T (p.Asn123Ile) c.449A>T (p.Asn150Ile) c.185A>T (p.Asn62Ile) c.278A>T (p.Asn93Ile) c.329A>T (p.Asn110Ile) | |
17 | g.81935098T>C | CA401539022 | PYCR1 | c.368A>G (p.Asn123Ser) c.449A>G (p.Asn150Ser) c.185A>G (p.Asn62Ser) c.278A>G (p.Asn93Ser) c.329A>G (p.Asn110Ser) | |
17 | g.81935098T>G | CA401539018 | PYCR1 | c.368A>C (p.Asn123Thr) c.449A>C (p.Asn150Thr) c.185A>C (p.Asn62Thr) c.278A>C (p.Asn93Thr) c.329A>C (p.Asn110Thr) | |
17 | g.81935099T>A | CA401539024 | PYCR1 | c.367A>T (p.Asn123Tyr) c.448A>T (p.Asn150Tyr) c.184A>T (p.Asn62Tyr) c.277A>T (p.Asn93Tyr) c.328A>T (p.Asn110Tyr) | |
17 | g.81935099T>C | CA295137820 | PYCR1 | c.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 |
17 | g.81935099T>G | CA401539030 | PYCR1 | c.367A>C (p.Asn123His) c.448A>C (p.Asn150His) c.184A>C (p.Asn62His) c.277A>C (p.Asn93His) c.328A>C (p.Asn110His) | |
17 | g.81935099T= | CA2278749867 | PYCR1 | c.367A= (p.Asn123=) c.448A= (p.Asn150=) c.184A= (p.Asn62=) c.277A= (p.Asn93=) c.328A= (p.Asn110=) | |
17 | g.81935100G>A | CA502426645 | PYCR1 | c.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 |
17 | g.81935100G>C | CA502426643 | PYCR1 | c.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 |
17 | g.81935100G= | CA2278749868 | PYCR1 | c.366C= (p.Thr122=) c.447C= (p.Thr149=) c.183C= (p.Thr61=) c.276C= (p.Thr92=) c.327C= (p.Thr109=) | |
17 | g.81935100G>T | CA502426641 | PYCR1 | c.366C>A (p.Thr122=) c.447C>A (p.Thr149=) c.183C>A (p.Thr61=) c.276C>A (p.Thr92=) c.327C>A (p.Thr109=) | |
17 | g.81935101G>A | CA401539032 | PYCR1 | c.365C>T (p.Thr122Ile) c.446C>T (p.Thr149Ile) c.182C>T (p.Thr61Ile) c.275C>T (p.Thr92Ile) c.326C>T (p.Thr109Ile) | |
17 | g.81935101G>C | CA295137824 | PYCR1 | c.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 |
17 | g.81935101G= | CA2278749869 | PYCR1 | c.365C= (p.Thr122=) c.446C= (p.Thr149=) c.182C= (p.Thr61=) c.275C= (p.Thr92=) c.326C= (p.Thr109=) | |
17 | g.81935101G>T | CA401539037 | PYCR1 | c.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 |
17 | g.81935102T>A | CA401539043 | PYCR1 | c.364A>T (p.Thr122Ser) c.445A>T (p.Thr149Ser) c.181A>T (p.Thr61Ser) c.274A>T (p.Thr92Ser) c.325A>T (p.Thr109Ser) | |
17 | g.81935102T>C | CA401539041 | PYCR1 | c.364A>G (p.Thr122Ala) c.445A>G (p.Thr149Ala) c.181A>G (p.Thr61Ala) c.274A>G (p.Thr92Ala) c.325A>G (p.Thr109Ala) | |
17 | g.81935102T>G | CA401539039 | PYCR1 | c.364A>C (p.Thr122Pro) c.445A>C (p.Thr149Pro) c.181A>C (p.Thr61Pro) c.274A>C (p.Thr92Pro) c.325A>C (p.Thr109Pro) | |
17 | g.81935103C>A | CA401539046 | PYCR1 | c.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 |
17 | g.81935103C>G | CA401539049 | PYCR1 | c.363G>C (p.Met121Ile) c.444G>C (p.Met148Ile) c.180G>C (p.Met60Ile) c.273G>C (p.Met91Ile) c.324G>C (p.Met108Ile) | |
17 | g.81935103C>T | CA401539051 | PYCR1 | c.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 |
17 | g.81935104A= | CA2278749870 | PYCR1 | c.362T= (p.Met121=) c.443T= (p.Met148=) c.179T= (p.Met60=) c.272T= (p.Met91=) c.323T= (p.Met108=) | |
17 | g.81935104A>C | CA401539054 | PYCR1 | c.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 |
17 | g.81935104A>G | CA401539056 | PYCR1 | c.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 |
17 | g.81935104A>T | CA401539058 | PYCR1 | c.362T>A (p.Met121Lys) c.443T>A (p.Met148Lys) c.179T>A (p.Met60Lys) c.272T>A (p.Met91Lys) c.323T>A (p.Met108Lys) | |
17 | g.81935105T>A | CA401539060 | PYCR1 | c.361A>T (p.Met121Leu) c.442A>T (p.Met148Leu) c.178A>T (p.Met60Leu) c.271A>T (p.Met91Leu) c.322A>T (p.Met108Leu) | |
17 | g.81935105T>C | CA401539065 | PYCR1 | c.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 |
17 | g.81935105T>G | CA401539062 | PYCR1 | c.361A>C (p.Met121Leu) c.442A>C (p.Met148Leu) c.178A>C (p.Met60Leu) c.271A>C (p.Met91Leu) c.322A>C (p.Met108Leu) | |
17 | g.81935105T= | CA2278749871 | PYCR1 | c.361A= (p.Met121=) c.442A= (p.Met148=) c.178A= (p.Met60=) c.271A= (p.Met91=) c.322A= (p.Met108=) | |
17 | g.81935106G>A | CA8845459 | PYCR1 | c.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 |
17 | g.81935106G>C | CA401539072 | PYCR1 | c.360C>G (p.Cys120Trp) c.441C>G (p.Cys147Trp) c.177C>G (p.Cys59Trp) c.270C>G (p.Cys90Trp) c.321C>G (p.Cys107Trp) | |
17 | g.81935106G= | CA2278749872 | PYCR1 | c.360C= (p.Cys120=) c.441C= (p.Cys147=) c.177C= (p.Cys59=) c.270C= (p.Cys90=) c.321C= (p.Cys107=) | |
17 | g.81935106G>T | CA401539075 | PYCR1 | c.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 |
17 | g.81935107C>A | CA401539078 | PYCR1 | c.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 |
17 | g.81935107C>G | CA401539080 | PYCR1 | c.359G>C (p.Cys120Ser) c.440G>C (p.Cys147Ser) c.176G>C (p.Cys59Ser) c.269G>C (p.Cys90Ser) c.320G>C (p.Cys107Ser) | |
17 | g.81935107C>T | CA401539082 | PYCR1 | c.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 |
17 | g.81935108A>C | CA401539084 | PYCR1 | c.358T>G (p.Cys120Gly) c.439T>G (p.Cys147Gly) c.175T>G (p.Cys59Gly) c.268T>G (p.Cys90Gly) c.319T>G (p.Cys107Gly) | |
17 | g.81935108A>G | CA401539086 | PYCR1 | c.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 |
17 | g.81935108A>T | CA401539088 | PYCR1 | c.358T>A (p.Cys120Ser) c.439T>A (p.Cys147Ser) c.175T>A (p.Cys59Ser) c.268T>A (p.Cys90Ser) c.319T>A (p.Cys107Ser) | |
17 | g.81935109G>A | CA502426661 | PYCR1 | c.357C>T (p.Arg119=) c.438C>T (p.Arg146=) c.174C>T (p.Arg58=) c.267C>T (p.Arg89=) c.318C>T (p.Arg106=) | |
17 | g.81935109G>C | CA502426662 | PYCR1 | c.357C>G (p.Arg119=) c.438C>G (p.Arg146=) c.174C>G (p.Arg58=) c.267C>G (p.Arg89=) c.318C>G (p.Arg106=) | |
17 | g.81935109G>T | CA502426663 | PYCR1 | c.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 |
17 | g.81935110C>A | CA401539090 | PYCR1 | c.356G>T (p.Arg119Leu) c.437G>T (p.Arg146Leu) c.173G>T (p.Arg58Leu) c.266G>T (p.Arg89Leu) c.317G>T (p.Arg106Leu) | |
17 | g.81935110C= | CA2278749873 | PYCR1 | c.356G= (p.Arg119=) c.437G= (p.Arg146=) c.173G= (p.Arg58=) c.266G= (p.Arg89=) c.317G= (p.Arg106=) | |
17 | g.81935110C>G | CA401539092 | PYCR1 | c.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 |
17 | g.81935110C>T | CA122956 | PYCR1 | c.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 |
17 | g.81935111G>A | CA8845460 | PYCR1 | c.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 |
17 | g.81935111G>C | CA122954 | PYCR1 | c.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 |
17 | g.81935111G= | CA2278749874 | PYCR1 | c.355C= (p.Arg119=) c.436C= (p.Arg146=) c.172C= (p.Arg58=) c.265C= (p.Arg89=) c.316C= (p.Arg106=) | |
17 | g.81935111G>T | CA401539095 | PYCR1 | c.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 |
17 | g.81935112G>A | CA502426668 | PYCR1 | c.354C>T (p.Ile118=) c.435C>T (p.Ile145=) c.171C>T (p.Ile57=) c.264C>T (p.Ile88=) c.315C>T (p.Ile105=) | |
17 | g.81935112G>C | CA401539096 | PYCR1 | c.354C>G (p.Ile118Met) c.435C>G (p.Ile145Met) c.171C>G (p.Ile57Met) c.264C>G (p.Ile88Met) c.315C>G (p.Ile105Met) | |
17 | g.81935112G>T | CA502426669 | PYCR1 | c.354C>A (p.Ile118=) c.435C>A (p.Ile145=) c.171C>A (p.Ile57=) c.264C>A (p.Ile88=) c.315C>A (p.Ile105=) | |
17 | g.81935113A>C | CA401539097 | PYCR1 | c.353T>G (p.Ile118Ser) c.434T>G (p.Ile145Ser) c.170T>G (p.Ile57Ser) c.263T>G (p.Ile88Ser) c.314T>G (p.Ile105Ser) | |
17 | g.81935113A>G | CA401539099 | PYCR1 | c.353T>C (p.Ile118Thr) c.434T>C (p.Ile145Thr) c.170T>C (p.Ile57Thr) c.263T>C (p.Ile88Thr) c.314T>C (p.Ile105Thr) | |
17 | g.81935113A>T | CA401539100 | PYCR1 | c.353T>A (p.Ile118Asn) c.434T>A (p.Ile145Asn) c.170T>A (p.Ile57Asn) c.263T>A (p.Ile88Asn) c.314T>A (p.Ile105Asn) | |
17 | g.81935114T>A | CA401539102 | PYCR1 | c.352A>T (p.Ile118Phe) c.433A>T (p.Ile145Phe) c.169A>T (p.Ile57Phe) c.262A>T (p.Ile88Phe) c.313A>T (p.Ile105Phe) | |
17 | g.81935114T>C | CA401539104 | PYCR1 | c.352A>G (p.Ile118Val) c.433A>G (p.Ile145Val) c.169A>G (p.Ile57Val) c.262A>G (p.Ile88Val) c.313A>G (p.Ile105Val) | |
17 | g.81935114T>G | CA401539107 | PYCR1 | c.352A>C (p.Ile118Leu) c.433A>C (p.Ile145Leu) c.169A>C (p.Ile57Leu) c.262A>C (p.Ile88Leu) c.313A>C (p.Ile105Leu) | |
17 | g.81935114T= | CA2278749875 | PYCR1 | c.352A= (p.Ile118=) c.433A= (p.Ile145=) c.169A= (p.Ile57=) c.262A= (p.Ile88=) c.313A= (p.Ile105=) | |
17 | g.81935115G>A | CA502426673 | PYCR1 | c.351C>T (p.Val117=) c.432C>T (p.Val144=) c.168C>T (p.Val56=) c.261C>T (p.Val87=) c.312C>T (p.Val104=) | |
17 | g.81935115G>C | CA502426674 | PYCR1 | c.351C>G (p.Val117=) c.432C>G (p.Val144=) c.168C>G (p.Val56=) c.261C>G (p.Val87=) c.312C>G (p.Val104=) | |
17 | g.81935115G>T | CA502426675 | PYCR1 | c.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 |
17 | g.81935115dup | CA986885644 | PYCR1 | c.351dup (p.Ile118HisfsTer?) c.432dup (p.Ile145HisfsTer?) c.168dup (p.Ile57HisfsTer?) c.261dup (p.Ile88HisfsTer?) c.312dup (p.Ile105HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.81935116A>C | CA401539109 | PYCR1 | c.350T>G (p.Val117Gly) c.431T>G (p.Val144Gly) c.167T>G (p.Val56Gly) c.260T>G (p.Val87Gly) c.311T>G (p.Val104Gly) | |
17 | g.81935116A>G | CA401539111 | PYCR1 | c.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 |
17 | g.81935116A>T | CA401539112 | PYCR1 | c.350T>A (p.Val117Asp) c.431T>A (p.Val144Asp) c.167T>A (p.Val56Asp) c.260T>A (p.Val87Asp) c.311T>A (p.Val104Asp) | |
17 | g.81935117C>A | CA401539115 | PYCR1 | c.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 |
17 | g.81935117C= | CA2278749876 | PYCR1 | c.349G= (p.Val117=) c.430G= (p.Val144=) c.166G= (p.Val56=) c.259G= (p.Val87=) c.310G= (p.Val104=) | |
17 | g.81935117C>G | CA401539119 | PYCR1 | c.349G>C (p.Val117Leu) c.430G>C (p.Val144Leu) c.166G>C (p.Val56Leu) c.259G>C (p.Val87Leu) c.310G>C (p.Val104Leu) | |
17 | g.81935117C>T | CA401539121 | PYCR1 | c.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 |
17 | g.81935119del | CA2576428656 | PYCR1 | c.349del (p.Val117SerfsTer5) c.430del (p.Val144SerfsTer5) c.166del (p.Val56SerfsTer5) c.259del (p.Val87SerfsTer5) c.310del (p.Val104SerfsTer5) | |
17 | g.81935118C>A | CA401539127 | PYCR1 | c.348G>T (p.Arg116Ser) c.429G>T (p.Arg143Ser) c.165G>T (p.Arg55Ser) c.258G>T (p.Arg86Ser) c.309G>T (p.Arg103Ser) | |
17 | g.81935118C= | CA2278749877 | PYCR1 | c.348G= (p.Arg116=) c.429G= (p.Arg143=) c.165G= (p.Arg55=) c.258G= (p.Arg86=) c.309G= (p.Arg103=) | |
17 | g.81935118C>G | CA401539125 | PYCR1 | c.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 |
17 | g.81935118C>T | CA8845461 | PYCR1 | c.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 |
17 | g.81935119C>A | CA401539129 | PYCR1 | c.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 |
17 | g.81935119C>G | CA401539130 | PYCR1 | c.347G>C (p.Arg116Thr) c.428G>C (p.Arg143Thr) c.164G>C (p.Arg55Thr) c.257G>C (p.Arg86Thr) c.308G>C (p.Arg103Thr) | |
17 | g.81935119C>T | CA401539133 | PYCR1 | c.347G>A (p.Arg116Lys) c.428G>A (p.Arg143Lys) c.164G>A (p.Arg55Lys) c.257G>A (p.Arg86Lys) c.308G>A (p.Arg103Lys) | |
17 | g.81935120T>A | CA401539141 | PYCR1 | c.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) | |
17 | g.81935120T>C | CA401539144 | PYCR1 | c.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 |
17 | g.81935120T>G | CA502426683 | PYCR1 | c.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=) | |
17 | g.81935120T= | CA2278749879 | PYCR1 | c.346A= (p.Arg116=) c.427A= (p.Arg143=) c.163A= (p.Arg55=) c.256A= (p.Arg86=) c.346A= c.307A= (p.Arg103=) | |
17 | g.81935120_81935121delinsTG | CA2278749878 | PYCR1 | c.345_346delinsCA (p.Pro115=) c.426_427delinsCA (p.Pro142=) c.162_163delinsCA (p.Pro54=) c.255_256delinsCA (p.Pro85=) c.306_307delinsCA (p.Pro102=) | |
17 | g.81935121G>A | CA502426684 | PYCR1 | c.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 |
17 | g.81935121G>C | CA502426685 | PYCR1 | c.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 |
17 | g.81935121G>T | CA502426686 | PYCR1 | c.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 |
17 | g.81935125del | CA128701 | PYCR1 | c.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 |
17 | g.81935122G>A | CA401539149 | PYCR1 | c.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 |
17 | g.81935122G>C | CA401539151 | PYCR1 | c.344C>G (p.Pro115Arg) c.425C>G (p.Pro142Arg) c.161C>G (p.Pro54Arg) c.254C>G (p.Pro85Arg) c.305C>G (p.Pro102Arg) | |
17 | g.81935122G>T | CA401539154 | PYCR1 | c.344C>A (p.Pro115His) c.425C>A (p.Pro142His) c.161C>A (p.Pro54His) c.254C>A (p.Pro85His) c.305C>A (p.Pro102His) | |
17 | g.81935123G>A | CA401539157 | PYCR1 | c.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 |
17 | g.81935123G>C | CA401539160 | PYCR1 | c.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 |
17 | g.81935123G= | CA2278749880 | PYCR1 | c.343C= (p.Pro115=) c.424C= (p.Pro142=) c.160C= (p.Pro54=) c.253C= (p.Pro85=) c.304C= (p.Pro102=) | |
17 | g.81935123G>T | CA401539163 | PYCR1 | c.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 |
17 | g.81935124G>A | CA502426692 | PYCR1 | c.342C>T (p.Ala114=) c.423C>T (p.Ala141=) c.159C>T (p.Ala53=) c.252C>T (p.Ala84=) c.303C>T (p.Ala101=) | |
17 | g.81935124G>C | CA502426691 | PYCR1 | c.342C>G (p.Ala114=) c.423C>G (p.Ala141=) c.159C>G (p.Ala53=) c.252C>G (p.Ala84=) c.303C>G (p.Ala101=) | |
17 | g.81935124G= | CA2278749881 | PYCR1 | c.342C= (p.Ala114=) c.423C= (p.Ala141=) c.159C= (p.Ala53=) c.252C= (p.Ala84=) c.303C= (p.Ala101=) | |
17 | g.81935124G>T | CA8845462 | PYCR1 | c.342C>A (p.Ala114=) c.423C>A (p.Ala141=) c.159C>A (p.Ala53=) c.252C>A (p.Ala84=) c.303C>A (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81935125G>A | CA295137852 | PYCR1 | c.341C>T (p.Ala114Val) c.422C>T (p.Ala141Val) c.158C>T (p.Ala53Val) c.251C>T (p.Ala84Val) c.302C>T (p.Ala101Val) | dbSNP |
17 | g.81935125G>C | CA8845463 | PYCR1 | c.341C>G (p.Ala114Gly) c.422C>G (p.Ala141Gly) c.158C>G (p.Ala53Gly) c.251C>G (p.Ala84Gly) c.302C>G (p.Ala101Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935125G= | CA2278749882 | PYCR1 | c.341C= (p.Ala114=) c.422C= (p.Ala141=) c.158C= (p.Ala53=) c.251C= (p.Ala84=) c.302C= (p.Ala101=) | |
17 | g.81935125G>T | CA401539169 | PYCR1 | c.341C>A (p.Ala114Asp) c.422C>A (p.Ala141Asp) c.158C>A (p.Ala53Asp) c.251C>A (p.Ala84Asp) c.302C>A (p.Ala101Asp) | gnomAD v4 |