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 |