Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.20348818G>A | CA494097155 | UMOD | c.483C>T (p.Cys161=) c.582C>T (p.Cys194=) c.630C>T (p.Cys210=) c.567C>T (p.Cys189=) n.708C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348818G>C | CA394985787 | UMOD | c.483C>G (p.Cys161Trp) c.582C>G (p.Cys194Trp) c.630C>G (p.Cys210Trp) c.567C>G (p.Cys189Trp) n.708C>G | |
16 | g.20348818G= | CA2211942823 | UMOD | c.483C= (p.Cys161=) c.582C= (p.Cys194=) c.630C= (p.Cys210=) c.567C= (p.Cys189=) n.708C= | |
16 | g.20348818G>T | CA394985789 | UMOD | c.483C>A (p.Cys161Ter) c.582C>A (p.Cys194Ter) c.630C>A (p.Cys210Ter) c.567C>A (p.Cys189Ter) n.708C>A | gnomAD v4 |
16 | g.20348819C>A | CA394985790 | UMOD | c.482G>T (p.Cys161Phe) c.581G>T (p.Cys194Phe) c.629G>T (p.Cys210Phe) c.566G>T (p.Cys189Phe) n.707G>T | gnomAD v4 |
16 | g.20348819C>G | CA394985792 | UMOD | c.482G>C (p.Cys161Ser) c.581G>C (p.Cys194Ser) c.629G>C (p.Cys210Ser) c.566G>C (p.Cys189Ser) n.707G>C | |
16 | g.20348819C>T | CA394985794 | UMOD | c.482G>A (p.Cys161Tyr) c.581G>A (p.Cys194Tyr) c.629G>A (p.Cys210Tyr) c.566G>A (p.Cys189Tyr) n.707G>A | gnomAD v4 |
16 | g.20348820A>C | CA394985797 | UMOD | c.481T>G (p.Cys161Gly) c.580T>G (p.Cys194Gly) c.628T>G (p.Cys210Gly) c.565T>G (p.Cys189Gly) n.706T>G | |
16 | g.20348820A>G | CA394985796 | UMOD | c.481T>C (p.Cys161Arg) c.580T>C (p.Cys194Arg) c.628T>C (p.Cys210Arg) c.565T>C (p.Cys189Arg) n.706T>C | |
16 | g.20348820A>T | CA394985795 | UMOD | c.481T>A (p.Cys161Ser) c.580T>A (p.Cys194Ser) c.628T>A (p.Cys210Ser) c.565T>A (p.Cys189Ser) n.706T>A | |
16 | g.20348821G>A | CA494097160 | UMOD | c.480C>T (p.Asp160=) c.579C>T (p.Asp193=) c.627C>T (p.Asp209=) c.564C>T (p.Asp188=) n.705C>T | ClinVar dbSNP gnomAD v4 |
16 | g.20348821G>C | CA394985799 | UMOD | c.480C>G (p.Asp160Glu) c.579C>G (p.Asp193Glu) c.627C>G (p.Asp209Glu) c.564C>G (p.Asp188Glu) n.705C>G | |
16 | g.20348821G= | CA2211942826 | UMOD | c.480C= (p.Asp160=) c.579C= (p.Asp193=) c.627C= (p.Asp209=) c.564C= (p.Asp188=) n.705C= | |
16 | g.20348821G>T | CA394985801 | UMOD | c.480C>A (p.Asp160Glu) c.579C>A (p.Asp193Glu) c.627C>A (p.Asp209Glu) c.564C>A (p.Asp188Glu) n.705C>A | gnomAD v4 |
16 | g.20348822T>A | CA394985804 | UMOD | c.479A>T (p.Asp160Val) c.578A>T (p.Asp193Val) c.626A>T (p.Asp209Val) c.563A>T (p.Asp188Val) n.704A>T | |
16 | g.20348822T>C | CA394985805 | UMOD | c.479A>G (p.Asp160Gly) c.578A>G (p.Asp193Gly) c.626A>G (p.Asp209Gly) c.563A>G (p.Asp188Gly) n.704A>G | gnomAD v4 |
16 | g.20348822T>G | CA394985806 | UMOD | c.479A>C (p.Asp160Ala) c.578A>C (p.Asp193Ala) c.626A>C (p.Asp209Ala) c.563A>C (p.Asp188Ala) n.704A>C | |
16 | g.20348822_20348823delinsTC | CA2211942831 | UMOD | c.478_479delinsGA (p.Asp160=) c.577_578delinsGA (p.Asp193=) c.625_626delinsGA (p.Asp209=) c.562_563delinsGA (p.Asp188=) n.703_704delinsGA | |
16 | g.20348823C>A | CA394985809 | UMOD | c.478G>T (p.Asp160Tyr) c.577G>T (p.Asp193Tyr) c.625G>T (p.Asp209Tyr) c.562G>T (p.Asp188Tyr) n.703G>T | |
16 | g.20348823C>G | CA394985811 | UMOD | c.478G>C (p.Asp160His) c.577G>C (p.Asp193His) c.625G>C (p.Asp209His) c.562G>C (p.Asp188His) n.703G>C | |
16 | g.20348823C>T | CA394985813 | UMOD | c.478G>A (p.Asp160Asn) c.577G>A (p.Asp193Asn) c.625G>A (p.Asp209Asn) c.562G>A (p.Asp188Asn) n.703G>A | |
16 | g.20348824del | CA621658532 | UMOD | c.478del (p.Asp160ThrfsTer?) c.577del (p.Asp193ThrfsTer?) c.625del (p.Asp209ThrfsTer?) c.562del (p.Asp188ThrfsTer?) n.703del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348824C>A | CA394985815 | UMOD | c.477G>T (p.Leu159Phe) c.576G>T (p.Leu192Phe) c.624G>T (p.Leu208Phe) c.561G>T (p.Leu187Phe) n.702G>T | |
16 | g.20348824C>G | CA394985817 | UMOD | c.477G>C (p.Leu159Phe) c.576G>C (p.Leu192Phe) c.624G>C (p.Leu208Phe) c.561G>C (p.Leu187Phe) n.702G>C | |
16 | g.20348824C>T | CA494097163 | UMOD | c.477G>A (p.Leu159=) c.576G>A (p.Leu192=) c.624G>A (p.Leu208=) c.561G>A (p.Leu187=) n.702G>A | |
16 | g.20348825A>C | CA394985820 | UMOD | c.476T>G (p.Leu159Trp) c.575T>G (p.Leu192Trp) c.623T>G (p.Leu208Trp) c.560T>G (p.Leu187Trp) n.701T>G | gnomAD v4 |
16 | g.20348825A>G | CA394985822 | UMOD | c.476T>C (p.Leu159Ser) c.575T>C (p.Leu192Ser) c.623T>C (p.Leu208Ser) c.560T>C (p.Leu187Ser) n.701T>C | |
16 | g.20348825A>T | CA394985823 | UMOD | c.476T>A (p.Leu159Ter) c.575T>A (p.Leu192Ter) c.623T>A (p.Leu208Ter) c.560T>A (p.Leu187Ter) n.701T>A | |
16 | g.20348826A>C | CA394985828 | UMOD | c.475T>G (p.Leu159Val) c.574T>G (p.Leu192Val) c.622T>G (p.Leu208Val) c.559T>G (p.Leu187Val) n.700T>G | |
16 | g.20348826A>G | CA494097170 | UMOD | c.475T>C (p.Leu159=) c.574T>C (p.Leu192=) c.622T>C (p.Leu208=) c.559T>C (p.Leu187=) n.700T>C | |
16 | g.20348826A>T | CA394985826 | UMOD | c.475T>A (p.Leu159Met) c.574T>A (p.Leu192Met) c.622T>A (p.Leu208Met) c.559T>A (p.Leu187Met) n.700T>A | |
16 | g.20348826_20348827delinsAC | CA2211942842 | UMOD | c.474_475delinsGT (p.Gly158=) c.573_574delinsGT (p.Gly191=) c.621_622delinsGT (p.Gly207=) c.558_559delinsGT (p.Gly186=) n.699_700delinsGT | |
16 | g.20348827C>A | CA494097171 | UMOD | c.474G>T (p.Gly158=) c.573G>T (p.Gly191=) c.621G>T (p.Gly207=) c.558G>T (p.Gly186=) n.699G>T | |
16 | g.20348827C= | CA2211942846 | UMOD | c.474G= (p.Gly158=) c.573G= (p.Gly191=) c.621G= (p.Gly207=) c.558G= (p.Gly186=) n.699G= | |
16 | g.20348827C>G | CA494097172 | UMOD | c.474G>C (p.Gly158=) c.573G>C (p.Gly191=) c.621G>C (p.Gly207=) c.558G>C (p.Gly186=) n.699G>C | gnomAD v4 |
16 | g.20348827C>T | CA494097173 | UMOD | c.474G>A (p.Gly158=) c.573G>A (p.Gly191=) c.621G>A (p.Gly207=) c.558G>A (p.Gly186=) n.699G>A | dbSNP gnomAD v2 |
16 | g.20348830del | CA2211942845 | UMOD | c.474del (p.Leu159TrpfsTer?) c.573del (p.Leu192TrpfsTer?) c.621del (p.Leu208TrpfsTer?) c.558del (p.Leu187TrpfsTer?) n.699del | dbSNP gnomAD v4 |
16 | g.20348828C>A | CA394985830 | UMOD | c.473G>T (p.Gly158Val) c.572G>T (p.Gly191Val) c.620G>T (p.Gly207Val) c.557G>T (p.Gly186Val) n.698G>T | gnomAD v4 |
16 | g.20348828C>G | CA394985832 | UMOD | c.473G>C (p.Gly158Ala) c.572G>C (p.Gly191Ala) c.620G>C (p.Gly207Ala) c.557G>C (p.Gly186Ala) n.698G>C | |
16 | g.20348828C>T | CA394985835 | UMOD | c.473G>A (p.Gly158Glu) c.572G>A (p.Gly191Glu) c.620G>A (p.Gly207Glu) c.557G>A (p.Gly186Glu) n.698G>A | gnomAD v4 |
16 | g.20348829C>A | CA394985836 | UMOD | c.472G>T (p.Gly158Trp) c.571G>T (p.Gly191Trp) c.619G>T (p.Gly207Trp) c.556G>T (p.Gly186Trp) n.697G>T | |
16 | g.20348829C= | CA2211942853 | UMOD | c.472G= (p.Gly158=) c.571G= (p.Gly191=) c.619G= (p.Gly207=) c.556G= (p.Gly186=) n.697G= | |
16 | g.20348829C>G | CA394985837 | UMOD | c.472G>C (p.Gly158Arg) c.571G>C (p.Gly191Arg) c.619G>C (p.Gly207Arg) c.556G>C (p.Gly186Arg) n.697G>C | gnomAD v4 |
16 | g.20348829C>T | CA394985838 | UMOD | c.472G>A (p.Gly158Arg) c.571G>A (p.Gly191Arg) c.619G>A (p.Gly207Arg) c.556G>A (p.Gly186Arg) n.697G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348830C>A | CA494097178 | UMOD | c.471G>T (p.Pro157=) c.570G>T (p.Pro190=) c.618G>T (p.Pro206=) c.555G>T (p.Pro185=) n.696G>T | dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.20348830C= | CA2211942856 | UMOD | c.471G= (p.Pro157=) c.570G= (p.Pro190=) c.618G= (p.Pro206=) c.555G= (p.Pro185=) n.696G= | |
16 | g.20348830C>G | CA494097179 | UMOD | c.471G>C (p.Pro157=) c.570G>C (p.Pro190=) c.618G>C (p.Pro206=) c.555G>C (p.Pro185=) n.696G>C | |
16 | g.20348830C>T | CA494097182 | UMOD | c.471G>A (p.Pro157=) c.570G>A (p.Pro190=) c.618G>A (p.Pro206=) c.555G>A (p.Pro185=) n.696G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348831G>A | CA279299977 | UMOD | c.470C>T (p.Pro157Leu) c.569C>T (p.Pro190Leu) c.617C>T (p.Pro206Leu) c.554C>T (p.Pro185Leu) n.695C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348831G>C | CA394985844 | UMOD | c.470C>G (p.Pro157Arg) c.569C>G (p.Pro190Arg) c.617C>G (p.Pro206Arg) c.554C>G (p.Pro185Arg) n.695C>G |