Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.34966792C>A | CA380120851 | PDHX | c.614C>A (p.Thr205Asn) c.794C>A (p.Thr265Asn) c.343-17778C>A (n.343-17778C>A) c.749C>A (p.Thr250Asn) | |
11 | g.34966792C= | CA1963501929 | PDHX | c.614C= (p.Thr205=) c.794C= (p.Thr265=) c.343-17778C= (n.343-17778C=) c.749C= (p.Thr250=) | |
11 | g.34966792C>G | CA5945993 | PDHX | c.614C>G (p.Thr205Ser) c.794C>G (p.Thr265Ser) c.343-17778C>G (n.343-17778C>G) c.749C>G (p.Thr250Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966792C>T | CA380120850 | PDHX | c.614C>T (p.Thr205Ile) c.794C>T (p.Thr265Ile) c.343-17778C>T (n.343-17778C>T) c.749C>T (p.Thr250Ile) | ClinVar dbSNP |
11 | g.34966793T>A | CA473615596 | PDHX | c.615T>A (p.Thr205=) c.795T>A (p.Thr265=) c.343-17777T>A (n.343-17777T>A) c.750T>A (p.Thr250=) | |
11 | g.34966793T>C | CA473615597 | PDHX | c.615T>C (p.Thr205=) c.795T>C (p.Thr265=) c.343-17777T>C (n.343-17777T>C) c.750T>C (p.Thr250=) | |
11 | g.34966793T>G | CA473615598 | PDHX | c.615T>G (p.Thr205=) c.795T>G (p.Thr265=) c.343-17777T>G (n.343-17777T>G) c.750T>G (p.Thr250=) | |
11 | g.34966794C>A | CA380120860 | PDHX | c.616C>A (p.Pro206Thr) c.796C>A (p.Pro266Thr) c.343-17776C>A (n.343-17776C>A) c.751C>A (p.Pro251Thr) | |
11 | g.34966794C= | CA1963501934 | PDHX | c.616C= (p.Pro206=) c.796C= (p.Pro266=) c.343-17776C= (n.343-17776C=) c.751C= (p.Pro251=) | |
11 | g.34966794C>G | CA380120856 | PDHX | c.616C>G (p.Pro206Ala) c.796C>G (p.Pro266Ala) c.343-17776C>G (n.343-17776C>G) c.751C>G (p.Pro251Ala) | |
11 | g.34966794C>T | CA380120858 | PDHX | c.616C>T (p.Pro206Ser) c.796C>T (p.Pro266Ser) c.343-17776C>T (n.343-17776C>T) c.751C>T (p.Pro251Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.34966795C>A | CA380120862 | PDHX | c.617C>A (p.Pro206His) c.797C>A (p.Pro266His) c.343-17775C>A (n.343-17775C>A) c.752C>A (p.Pro251His) | |
11 | g.34966795C= | CA1963501939 | PDHX | c.617C= (p.Pro206=) c.797C= (p.Pro266=) c.343-17775C= (n.343-17775C=) c.752C= (p.Pro251=) | |
11 | g.34966795C>G | CA380120865 | PDHX | c.617C>G (p.Pro206Arg) c.797C>G (p.Pro266Arg) c.343-17775C>G (n.343-17775C>G) c.752C>G (p.Pro251Arg) | |
11 | g.34966795C>T | CA380120877 | PDHX | c.617C>T (p.Pro206Leu) c.797C>T (p.Pro266Leu) c.343-17775C>T (n.343-17775C>T) c.752C>T (p.Pro251Leu) | |
11 | g.34966795_34966796insCGGACAACCCAATGCAG | CA5945994 | PDHX | c.617_618insCGGACAACCCAATGCAG (p.Gly213AspfsTer25) c.797_798insCGGACAACCCAATGCAG (p.Gly273AspfsTer25) c.343-17775_343-17774insCGGACAACCCAATGCAG (n.343-17775_343-17774insCGGACAACCCAATGCAG) c.752_753insCGGACAACCCAATGCAG (p.Gly258AspfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966795_34966796insCGGACAACCCAATGCAGTGGTAG | CA1963501949 | PDHX | c.617_618insCGGACAACCCAATGCAGTGGTAG (p.Gly213ValfsTer27) c.797_798insCGGACAACCCAATGCAGTGGTAG (p.Gly273ValfsTer27) c.343-17775_343-17774insCGGACAACCCAATGCAGTGGTAG (n.343-17775_343-17774insCGGACAACCCAATGCAGTGGTAG) c.752_753insCGGACAACCCAATGCAGTGGTAG (p.Gly258ValfsTer27) | dbSNP |
11 | g.34966796T>A | CA473615601 | PDHX | c.618T>A (p.Pro206=) c.798T>A (p.Pro266=) c.343-17774T>A (n.343-17774T>A) c.753T>A (p.Pro251=) | dbSNP |
11 | g.34966796T>C | CA292747 | PDHX | c.618T>C (p.Pro206=) c.798T>C (p.Pro266=) c.343-17774T>C (n.343-17774T>C) c.753T>C (p.Pro251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966796T>G | CA473615604 | PDHX | c.618T>G (p.Pro206=) c.798T>G (p.Pro266=) c.343-17774T>G (n.343-17774T>G) c.753T>G (p.Pro251=) | gnomAD v4 |
11 | g.34966796T= | CA1963501951 | PDHX | c.618T= (p.Pro206=) c.798T= (p.Pro266=) c.343-17774T= (n.343-17774T=) c.753T= (p.Pro251=) | |
11 | g.34966796_34966798delinsCGGACAACCCAATGCAGTGGTAGTGT | CA2580084079 | PDHX | c.618_620delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly213ValfsTer27) c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273ValfsTer27) c.343-17774_343-17772delinsCGGACAACCCAATGCAGTGGTAGTGT (n.343-17774_343-17772delinsCGGACAACCCAATGCAGTGGTAGTGT) c.753_755delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly258ValfsTer27) | ClinVar |
11 | g.34966797G>A | CA380120883 | PDHX | c.619G>A (p.Gly207Arg) c.799G>A (p.Gly267Arg) c.343-17773G>A (n.343-17773G>A) c.754G>A (p.Gly252Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966797G>C | CA380120887 | PDHX | c.619G>C (p.Gly207Arg) c.799G>C (p.Gly267Arg) c.343-17773G>C (n.343-17773G>C) c.754G>C (p.Gly252Arg) | gnomAD v4 |
11 | g.34966797G= | CA1963501954 | PDHX | c.619G= (p.Gly207=) c.799G= (p.Gly267=) c.343-17773G= (n.343-17773G=) c.754G= (p.Gly252=) | |
11 | g.34966797G>T | CA380120885 | PDHX | c.619G>T (p.Gly207Ter) c.799G>T (p.Gly267Ter) c.343-17773G>T (n.343-17773G>T) c.754G>T (p.Gly252Ter) | |
11 | g.34966797_34966798insCCCCCACA | CA1963501961 | PDHX | c.619_620insCCCCCACA (p.Gly207AlafsTer28) c.799_800insCCCCCACA (p.Gly267AlafsTer28) c.343-17773_343-17772insCCCCCACA (n.343-17773_343-17772insCCCCCACA) c.754_755insCCCCCACA (p.Gly252AlafsTer28) | dbSNP |
11 | g.34966798G>A | CA380120890 | PDHX | c.620G>A (p.Gly207Glu) c.800G>A (p.Gly267Glu) c.343-17772G>A (n.343-17772G>A) c.755G>A (p.Gly252Glu) | dbSNP |
11 | g.34966798G>C | CA380120892 | PDHX | c.620G>C (p.Gly207Ala) c.800G>C (p.Gly267Ala) c.343-17772G>C (n.343-17772G>C) c.755G>C (p.Gly252Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.34966798G= | CA1963501959 | PDHX | c.620G= (p.Gly207=) c.800G= (p.Gly267=) c.343-17772G= (n.343-17772G=) c.755G= (p.Gly252=) | |
11 | g.34966798G>T | CA5945995 | PDHX | c.620G>T (p.Gly207Val) c.800G>T (p.Gly267Val) c.343-17772G>T (n.343-17772G>T) c.755G>T (p.Gly252Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.34966798_34966799insTAGTGT | CA5945996 | PDHX | c.620_621insTAGTGT (p.Gly207_Gln208insSerVal) c.800_801insTAGTGT (p.Gly267_Gln268insSerVal) c.343-17772_343-17771insTAGTGT (n.343-17772_343-17771insTAGTGT) c.755_756insTAGTGT (p.Gly252_Gln253insSerVal) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966798_34966799insCCACTCCC | CA1963501963 | PDHX | c.620_621insCCACTCCC (p.Gln208HisfsTer27) c.800_801insCCACTCCC (p.Gln268HisfsTer27) c.343-17772_343-17771insCCACTCCC (n.343-17772_343-17771insCCACTCCC) c.755_756insCCACTCCC (p.Gln253HisfsTer27) | dbSNP |
11 | g.34966799A>C | CA473615606 | PDHX | c.621A>C (p.Gly207=) c.801A>C (p.Gly267=) c.343-17771A>C (n.343-17771A>C) c.756A>C (p.Gly252=) | |
11 | g.34966799A>G | CA473615607 | PDHX | c.621A>G (p.Gly207=) c.801A>G (p.Gly267=) c.343-17771A>G (n.343-17771A>G) c.756A>G (p.Gly252=) | |
11 | g.34966799A>T | CA473615608 | PDHX | c.621A>T (p.Gly207=) c.801A>T (p.Gly267=) c.343-17771A>T (n.343-17771A>T) c.756A>T (p.Gly252=) | |
11 | g.34966800C>A | CA380120898 | PDHX | c.622C>A (p.Gln208Lys) c.802C>A (p.Gln268Lys) c.343-17770C>A (n.343-17770C>A) c.757C>A (p.Gln253Lys) | |
11 | g.34966800C>G | CA380120902 | PDHX | c.622C>G (p.Gln208Glu) c.802C>G (p.Gln268Glu) c.343-17770C>G (n.343-17770C>G) c.757C>G (p.Gln253Glu) | |
11 | g.34966800C>T | CA380120900 | PDHX | c.622C>T (p.Gln208Ter) c.802C>T (p.Gln268Ter) c.343-17770C>T (n.343-17770C>T) c.757C>T (p.Gln253Ter) | COSMIC |
11 | g.34966801A>C | CA380120904 | PDHX | c.623A>C (p.Gln208Pro) c.803A>C (p.Gln268Pro) c.343-17769A>C (n.343-17769A>C) c.758A>C (p.Gln253Pro) | |
11 | g.34966801A>G | CA380120906 | PDHX | c.623A>G (p.Gln208Arg) c.803A>G (p.Gln268Arg) c.343-17769A>G (n.343-17769A>G) c.758A>G (p.Gln253Arg) | |
11 | g.34966801A>T | CA380120909 | PDHX | c.623A>T (p.Gln208Leu) c.803A>T (p.Gln268Leu) c.343-17769A>T (n.343-17769A>T) c.758A>T (p.Gln253Leu) | |
11 | g.34966802A= | CA1963501966 | PDHX | c.624A= (p.Gln208=) c.804A= (p.Gln268=) c.343-17768A= (n.343-17768A=) c.759A= (p.Gln253=) | |
11 | g.34966802A>C | CA380120912 | PDHX | c.624A>C (p.Gln208His) c.804A>C (p.Gln268His) c.343-17768A>C (n.343-17768A>C) c.759A>C (p.Gln253His) | |
11 | g.34966802A>G | CA473615609 | PDHX | c.624A>G (p.Gln208=) c.804A>G (p.Gln268=) c.343-17768A>G (n.343-17768A>G) c.759A>G (p.Gln253=) | dbSNP |
11 | g.34966802A>T | CA380120915 | PDHX | c.624A>T (p.Gln208His) c.804A>T (p.Gln268His) c.343-17768A>T (n.343-17768A>T) c.759A>T (p.Gln253His) | |
11 | g.34966803C>A | CA380120918 | PDHX | c.625C>A (p.Pro209Thr) c.805C>A (p.Pro269Thr) c.343-17767C>A (n.343-17767C>A) c.760C>A (p.Pro254Thr) | gnomAD v4 |
11 | g.34966803C>G | CA380120920 | PDHX | c.625C>G (p.Pro209Ala) c.805C>G (p.Pro269Ala) c.343-17767C>G (n.343-17767C>G) c.760C>G (p.Pro254Ala) | |
11 | g.34966803C>T | CA380120922 | PDHX | c.625C>T (p.Pro209Ser) c.805C>T (p.Pro269Ser) c.343-17767C>T (n.343-17767C>T) c.760C>T (p.Pro254Ser) | gnomAD v4 COSMIC COSMIC |
11 | g.34966804C>A | CA380120924 | PDHX | c.626C>A (p.Pro209His) c.806C>A (p.Pro269His) c.343-17766C>A (n.343-17766C>A) c.761C>A (p.Pro254His) | dbSNP gnomAD v4 |