Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.81935126C>A | CA401539173 | PYCR1 | c.340G>T (p.Ala114Ser) c.421G>T (p.Ala141Ser) c.157G>T (p.Ala53Ser) c.250G>T (p.Ala84Ser) c.301G>T (p.Ala101Ser) | gnomAD v4 |
17 | g.81935126C>G | CA401539178 | PYCR1 | c.340G>C (p.Ala114Pro) c.421G>C (p.Ala141Pro) c.157G>C (p.Ala53Pro) c.250G>C (p.Ala84Pro) c.301G>C (p.Ala101Pro) | |
17 | g.81935126C>T | CA401539176 | PYCR1 | c.340G>A (p.Ala114Thr) c.421G>A (p.Ala141Thr) c.157G>A (p.Ala53Thr) c.250G>A (p.Ala84Thr) c.301G>A (p.Ala101Thr) | COSMIC COSMIC |
17 | g.81935127T>A | CA502426696 | PYCR1 | c.339A>T (p.Pro113=) c.420A>T (p.Pro140=) c.156A>T (p.Pro52=) c.249A>T (p.Pro83=) c.300A>T (p.Pro100=) | |
17 | g.81935127T>C | CA502426697 | PYCR1 | c.339A>G (p.Pro113=) c.420A>G (p.Pro140=) c.156A>G (p.Pro52=) c.249A>G (p.Pro83=) c.300A>G (p.Pro100=) | |
17 | g.81935127T>G | CA502426699 | PYCR1 | c.339A>C (p.Pro113=) c.420A>C (p.Pro140=) c.156A>C (p.Pro52=) c.249A>C (p.Pro83=) c.300A>C (p.Pro100=) | |
17 | g.81935128G>A | CA401539181 | PYCR1 | c.338C>T (p.Pro113Leu) c.419C>T (p.Pro140Leu) c.155C>T (p.Pro52Leu) c.248C>T (p.Pro83Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.81935128G>C | CA401539185 | PYCR1 | c.338C>G (p.Pro113Arg) c.419C>G (p.Pro140Arg) c.155C>G (p.Pro52Arg) c.248C>G (p.Pro83Arg) c.299C>G (p.Pro100Arg) | |
17 | g.81935128G= | CA2278749883 | PYCR1 | c.338C= (p.Pro113=) c.419C= (p.Pro140=) c.155C= (p.Pro52=) c.248C= (p.Pro83=) c.299C= (p.Pro100=) | |
17 | g.81935128G>T | CA8845464 | PYCR1 | c.338C>A (p.Pro113Gln) c.419C>A (p.Pro140Gln) c.155C>A (p.Pro52Gln) c.248C>A (p.Pro83Gln) c.299C>A (p.Pro100Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81935129G>A | CA401539192 | PYCR1 | c.337C>T (p.Pro113Ser) c.418C>T (p.Pro140Ser) c.154C>T (p.Pro52Ser) c.247C>T (p.Pro83Ser) c.298C>T (p.Pro100Ser) | gnomAD v4 |
17 | g.81935129G>C | CA401539193 | PYCR1 | c.337C>G (p.Pro113Ala) c.418C>G (p.Pro140Ala) c.154C>G (p.Pro52Ala) c.247C>G (p.Pro83Ala) c.298C>G (p.Pro100Ala) | |
17 | g.81935129G>T | CA401539194 | PYCR1 | c.337C>A (p.Pro113Thr) c.418C>A (p.Pro140Thr) c.154C>A (p.Pro52Thr) c.247C>A (p.Pro83Thr) c.298C>A (p.Pro100Thr) | gnomAD v4 |
17 | g.81935130C>A | CA502426702 | PYCR1 | c.336G>T (p.Arg112=) c.417G>T (p.Arg139=) c.153G>T (p.Arg51=) c.246G>T (p.Arg82=) c.297G>T (p.Arg99=) | ClinVar gnomAD v4 |
17 | g.81935130C= | CA2278749884 | PYCR1 | c.336G= (p.Arg112=) c.417G= (p.Arg139=) c.153G= (p.Arg51=) c.246G= (p.Arg82=) c.297G= (p.Arg99=) | |
17 | g.81935130C>G | CA295137866 | PYCR1 | c.336G>C (p.Arg112=) c.417G>C (p.Arg139=) c.153G>C (p.Arg51=) c.246G>C (p.Arg82=) c.297G>C (p.Arg99=) | dbSNP gnomAD v4 |
17 | g.81935130C>T | CA502426704 | PYCR1 | c.336G>A (p.Arg112=) c.417G>A (p.Arg139=) c.153G>A (p.Arg51=) c.246G>A (p.Arg82=) c.297G>A (p.Arg99=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.81935131C>A | CA401539195 | PYCR1 | c.335G>T (p.Arg112Leu) c.416G>T (p.Arg139Leu) c.152G>T (p.Arg51Leu) c.245G>T (p.Arg82Leu) c.296G>T (p.Arg99Leu) | |
17 | g.81935131C= | CA2278749885 | PYCR1 | c.335G= (p.Arg112=) c.416G= (p.Arg139=) c.152G= (p.Arg51=) c.245G= (p.Arg82=) c.296G= (p.Arg99=) | |
17 | g.81935131C>G | CA401539196 | PYCR1 | c.335G>C (p.Arg112Pro) c.416G>C (p.Arg139Pro) c.152G>C (p.Arg51Pro) c.245G>C (p.Arg82Pro) c.296G>C (p.Arg99Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935131C>T | CA8845465 | PYCR1 | c.335G>A (p.Arg112Gln) c.416G>A (p.Arg139Gln) c.152G>A (p.Arg51Gln) c.245G>A (p.Arg82Gln) c.296G>A (p.Arg99Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.81935132G>A | CA8845466 | PYCR1 | c.334C>T (p.Arg112Trp) c.415C>T (p.Arg139Trp) c.151C>T (p.Arg51Trp) c.244C>T (p.Arg82Trp) c.295C>T (p.Arg99Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935132G>C | CA401539201 | PYCR1 | c.334C>G (p.Arg112Gly) c.415C>G (p.Arg139Gly) c.151C>G (p.Arg51Gly) c.244C>G (p.Arg82Gly) c.295C>G (p.Arg99Gly) | gnomAD v4 |
17 | g.81935132G= | CA2278749886 | PYCR1 | c.334C= (p.Arg112=) c.415C= (p.Arg139=) c.151C= (p.Arg51=) c.244C= (p.Arg82=) c.295C= (p.Arg99=) | |
17 | g.81935132G>T | CA502426708 | PYCR1 | c.334C>A (p.Arg112=) c.415C>A (p.Arg139=) c.151C>A (p.Arg51=) c.244C>A (p.Arg82=) c.295C>A (p.Arg99=) | gnomAD v4 |
17 | g.81935133A>C | CA401539206 | PYCR1 | c.333T>G (p.Phe111Leu) c.414T>G (p.Phe138Leu) c.150T>G (p.Phe50Leu) c.243T>G (p.Phe81Leu) c.294T>G (p.Phe98Leu) | |
17 | g.81935133A>G | CA502426709 | PYCR1 | c.333T>C (p.Phe111=) c.414T>C (p.Phe138=) c.150T>C (p.Phe50=) c.243T>C (p.Phe81=) c.294T>C (p.Phe98=) | |
17 | g.81935133A>T | CA401539208 | PYCR1 | c.333T>A (p.Phe111Leu) c.414T>A (p.Phe138Leu) c.150T>A (p.Phe50Leu) c.243T>A (p.Phe81Leu) c.294T>A (p.Phe98Leu) | |
17 | g.81935134A>C | CA401539212 | PYCR1 | c.332T>G (p.Phe111Cys) c.413T>G (p.Phe138Cys) c.149T>G (p.Phe50Cys) c.242T>G (p.Phe81Cys) c.293T>G (p.Phe98Cys) | |
17 | g.81935134A>G | CA401539217 | PYCR1 | c.332T>C (p.Phe111Ser) c.413T>C (p.Phe138Ser) c.149T>C (p.Phe50Ser) c.242T>C (p.Phe81Ser) c.293T>C (p.Phe98Ser) | |
17 | g.81935134A>T | CA401539219 | PYCR1 | c.332T>A (p.Phe111Tyr) c.413T>A (p.Phe138Tyr) c.149T>A (p.Phe50Tyr) c.242T>A (p.Phe81Tyr) c.293T>A (p.Phe98Tyr) | |
17 | g.81935135A>C | CA401539224 | PYCR1 | c.331T>G (p.Phe111Val) c.412T>G (p.Phe138Val) c.148T>G (p.Phe50Val) c.241T>G (p.Phe81Val) c.292T>G (p.Phe98Val) | |
17 | g.81935135A>G | CA401539228 | PYCR1 | c.331T>C (p.Phe111Leu) c.412T>C (p.Phe138Leu) c.148T>C (p.Phe50Leu) c.241T>C (p.Phe81Leu) c.292T>C (p.Phe98Leu) | |
17 | g.81935135A>T | CA401539230 | PYCR1 | c.331T>A (p.Phe111Ile) c.412T>A (p.Phe138Ile) c.148T>A (p.Phe50Ile) c.241T>A (p.Phe81Ile) c.292T>A (p.Phe98Ile) | |
17 | g.81935136C>A | CA502426716 | PYCR1 | c.330G>T (p.Ala110=) c.411G>T (p.Ala137=) c.147G>T (p.Ala49=) c.240G>T (p.Ala80=) c.291G>T (p.Ala97=) | gnomAD v4 |
17 | g.81935136C= | CA2278749887 | PYCR1 | c.330G= (p.Ala110=) c.411G= (p.Ala137=) c.147G= (p.Ala49=) c.240G= (p.Ala80=) c.291G= (p.Ala97=) | |
17 | g.81935136C>G | CA502426719 | PYCR1 | c.330G>C (p.Ala110=) c.411G>C (p.Ala137=) c.147G>C (p.Ala49=) c.240G>C (p.Ala80=) c.291G>C (p.Ala97=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935136C>T | CA8845467 | PYCR1 | c.330G>A (p.Ala110=) c.411G>A (p.Ala137=) c.147G>A (p.Ala49=) c.240G>A (p.Ala80=) c.291G>A (p.Ala97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935137G>A | CA8845468 | PYCR1 | c.329C>T (p.Ala110Val) c.410C>T (p.Ala137Val) c.146C>T (p.Ala49Val) c.239C>T (p.Ala80Val) c.290C>T (p.Ala97Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935137G>C | CA401539238 | PYCR1 | c.329C>G (p.Ala110Gly) c.410C>G (p.Ala137Gly) c.146C>G (p.Ala49Gly) c.239C>G (p.Ala80Gly) c.290C>G (p.Ala97Gly) | |
17 | g.81935137G= | CA2278749888 | PYCR1 | c.329C= (p.Ala110=) c.410C= (p.Ala137=) c.146C= (p.Ala49=) c.239C= (p.Ala80=) c.290C= (p.Ala97=) | |
17 | g.81935137G>T | CA295137871 | PYCR1 | c.329C>A (p.Ala110Glu) c.410C>A (p.Ala137Glu) c.146C>A (p.Ala49Glu) c.239C>A (p.Ala80Glu) c.290C>A (p.Ala97Glu) | dbSNP gnomAD v4 |
17 | g.81935138C>A | CA401539249 | PYCR1 | c.328G>T (p.Ala110Ser) c.409G>T (p.Ala137Ser) c.145G>T (p.Ala49Ser) c.238G>T (p.Ala80Ser) c.289G>T (p.Ala97Ser) | dbSNP |
17 | g.81935138C= | CA2278749889 | PYCR1 | c.328G= (p.Ala110=) c.409G= (p.Ala137=) c.145G= (p.Ala49=) c.238G= (p.Ala80=) c.289G= (p.Ala97=) | |
17 | g.81935138C>G | CA401539253 | PYCR1 | c.328G>C (p.Ala110Pro) c.409G>C (p.Ala137Pro) c.145G>C (p.Ala49Pro) c.238G>C (p.Ala80Pro) c.289G>C (p.Ala97Pro) | gnomAD v4 |