| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |