Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.20348473C>A | CA494097011 | UMOD | c.828G>T (p.Leu276=) c.927G>T (p.Leu309=) c.975G>T (p.Leu325=) c.912G>T (p.Leu304=) n.1053G>T | |
16 | g.20348473C>G | CA494097012 | UMOD | c.828G>C (p.Leu276=) c.927G>C (p.Leu309=) c.975G>C (p.Leu325=) c.912G>C (p.Leu304=) n.1053G>C | |
16 | g.20348473C>T | CA494097013 | UMOD | c.828G>A (p.Leu276=) c.927G>A (p.Leu309=) c.975G>A (p.Leu325=) c.912G>A (p.Leu304=) n.1053G>A | gnomAD v4 |
16 | g.20348474A>C | CA394984183 | UMOD | c.827T>G (p.Leu276Arg) c.926T>G (p.Leu309Arg) c.974T>G (p.Leu325Arg) c.911T>G (p.Leu304Arg) n.1052T>G | |
16 | g.20348474A>G | CA394984184 | UMOD | c.827T>C (p.Leu276Pro) c.926T>C (p.Leu309Pro) c.974T>C (p.Leu325Pro) c.911T>C (p.Leu304Pro) n.1052T>C | |
16 | g.20348474A>T | CA394984187 | UMOD | c.827T>A (p.Leu276Gln) c.926T>A (p.Leu309Gln) c.974T>A (p.Leu325Gln) c.911T>A (p.Leu304Gln) n.1052T>A | |
16 | g.20348475G>A | CA494097014 | UMOD | c.826C>T (p.Leu276=) c.925C>T (p.Leu309=) c.973C>T (p.Leu325=) c.910C>T (p.Leu304=) n.1051C>T | |
16 | g.20348475G>C | CA394984195 | UMOD | c.826C>G (p.Leu276Val) c.925C>G (p.Leu309Val) c.973C>G (p.Leu325Val) c.910C>G (p.Leu304Val) n.1051C>G | |
16 | g.20348475G>T | CA394984191 | UMOD | c.826C>A (p.Leu276Met) c.925C>A (p.Leu309Met) c.973C>A (p.Leu325Met) c.910C>A (p.Leu304Met) n.1051C>A | gnomAD v4 |
16 | g.20348476G>A | CA494097018 | UMOD | c.825C>T (p.Asn275=) c.924C>T (p.Asn308=) c.972C>T (p.Asn324=) c.909C>T (p.Asn303=) n.1050C>T | gnomAD v4 |
16 | g.20348476G>C | CA394984197 | UMOD | c.825C>G (p.Asn275Lys) c.924C>G (p.Asn308Lys) c.972C>G (p.Asn324Lys) c.909C>G (p.Asn303Lys) n.1050C>G | |
16 | g.20348476G>T | CA394984199 | UMOD | c.825C>A (p.Asn275Lys) c.924C>A (p.Asn308Lys) c.972C>A (p.Asn324Lys) c.909C>A (p.Asn303Lys) n.1050C>A | gnomAD v4 |
16 | g.20348477T>A | CA394984200 | UMOD | c.824A>T (p.Asn275Ile) c.923A>T (p.Asn308Ile) c.971A>T (p.Asn324Ile) c.908A>T (p.Asn303Ile) n.1049A>T | |
16 | g.20348477T>C | CA7939398 | UMOD | c.824A>G (p.Asn275Ser) c.923A>G (p.Asn308Ser) c.971A>G (p.Asn324Ser) c.908A>G (p.Asn303Ser) n.1049A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348477T>G | CA394984203 | UMOD | c.824A>C (p.Asn275Thr) c.923A>C (p.Asn308Thr) c.971A>C (p.Asn324Thr) c.908A>C (p.Asn303Thr) n.1049A>C | |
16 | g.20348477T= | CA2211941835 | UMOD | c.824A= (p.Asn275=) c.923A= (p.Asn308=) c.971A= (p.Asn324=) c.908A= (p.Asn303=) n.1049A= | |
16 | g.20348478T>A | CA279299606 | UMOD | c.823A>T (p.Asn275Tyr) c.922A>T (p.Asn308Tyr) c.970A>T (p.Asn324Tyr) c.907A>T (p.Asn303Tyr) n.1048A>T | dbSNP |
16 | g.20348478T>C | CA394984207 | UMOD | c.823A>G (p.Asn275Asp) c.922A>G (p.Asn308Asp) c.970A>G (p.Asn324Asp) c.907A>G (p.Asn303Asp) n.1048A>G | |
16 | g.20348478T>G | CA394984209 | UMOD | c.823A>C (p.Asn275His) c.922A>C (p.Asn308His) c.970A>C (p.Asn324His) c.907A>C (p.Asn303His) n.1048A>C | |
16 | g.20348478T= | CA2211941839 | UMOD | c.823A= (p.Asn275=) c.922A= (p.Asn308=) c.970A= (p.Asn324=) c.907A= (p.Asn303=) n.1048A= | |
16 | g.20348479G>A | CA494097021 | UMOD | c.822C>T (p.Tyr274=) c.921C>T (p.Tyr307=) c.969C>T (p.Tyr323=) c.906C>T (p.Tyr302=) n.1047C>T | |
16 | g.20348479G>C | CA394984214 | UMOD | c.822C>G (p.Tyr274Ter) c.921C>G (p.Tyr307Ter) c.969C>G (p.Tyr323Ter) c.906C>G (p.Tyr302Ter) n.1047C>G | |
16 | g.20348479G= | CA2211941844 | UMOD | c.822C= (p.Tyr274=) c.921C= (p.Tyr307=) c.969C= (p.Tyr323=) c.906C= (p.Tyr302=) n.1047C= | |
16 | g.20348479G>T | CA394984217 | UMOD | c.822C>A (p.Tyr274Ter) c.921C>A (p.Tyr307Ter) c.969C>A (p.Tyr323Ter) c.906C>A (p.Tyr302Ter) n.1047C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348480T>A | CA394984222 | UMOD | c.821A>T (p.Tyr274Phe) c.920A>T (p.Tyr307Phe) c.968A>T (p.Tyr323Phe) c.905A>T (p.Tyr302Phe) n.1046A>T | |
16 | g.20348480T>C | CA7939399 | UMOD | c.821A>G (p.Tyr274Cys) c.920A>G (p.Tyr307Cys) c.968A>G (p.Tyr323Cys) c.905A>G (p.Tyr302Cys) n.1046A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348480T>G | CA394984230 | UMOD | c.821A>C (p.Tyr274Ser) c.920A>C (p.Tyr307Ser) c.968A>C (p.Tyr323Ser) c.905A>C (p.Tyr302Ser) n.1046A>C | |
16 | g.20348480T= | CA2211941847 | UMOD | c.821A= (p.Tyr274=) c.920A= (p.Tyr307=) c.968A= (p.Tyr323=) c.905A= (p.Tyr302=) n.1046A= | |
16 | g.20348481A>C | CA394984234 | UMOD | c.820T>G (p.Tyr274Asp) c.919T>G (p.Tyr307Asp) c.967T>G (p.Tyr323Asp) c.904T>G (p.Tyr302Asp) n.1045T>G | |
16 | g.20348481A>G | CA394984236 | UMOD | c.820T>C (p.Tyr274His) c.919T>C (p.Tyr307His) c.967T>C (p.Tyr323His) c.904T>C (p.Tyr302His) n.1045T>C | gnomAD v4 |
16 | g.20348481A>T | CA394984235 | UMOD | c.820T>A (p.Tyr274Asn) c.919T>A (p.Tyr307Asn) c.967T>A (p.Tyr323Asn) c.904T>A (p.Tyr302Asn) n.1045T>A | |
16 | g.20348482G>A | CA494097025 | UMOD | c.819C>T (p.Val273=) c.918C>T (p.Val306=) c.966C>T (p.Val322=) c.903C>T (p.Val301=) n.1044C>T | |
16 | g.20348482G>C | CA494097026 | UMOD | c.819C>G (p.Val273=) c.918C>G (p.Val306=) c.966C>G (p.Val322=) c.903C>G (p.Val301=) n.1044C>G | |
16 | g.20348482G>T | CA494097028 | UMOD | c.819C>A (p.Val273=) c.918C>A (p.Val306=) c.966C>A (p.Val322=) c.903C>A (p.Val301=) n.1044C>A | gnomAD v4 |
16 | g.20348483A>C | CA394984240 | UMOD | c.818T>G (p.Val273Gly) c.917T>G (p.Val306Gly) c.965T>G (p.Val322Gly) c.902T>G (p.Val301Gly) n.1043T>G | |
16 | g.20348483A>G | CA394984242 | UMOD | c.818T>C (p.Val273Ala) c.917T>C (p.Val306Ala) c.965T>C (p.Val322Ala) c.902T>C (p.Val301Ala) n.1043T>C | |
16 | g.20348483A>T | CA394984243 | UMOD | c.818T>A (p.Val273Asp) c.917T>A (p.Val306Asp) c.965T>A (p.Val322Asp) c.902T>A (p.Val301Asp) n.1043T>A | |
16 | g.20348484C>A | CA256256 | UMOD | c.817G>T (p.Val273Phe) c.916G>T (p.Val306Phe) c.964G>T (p.Val322Phe) c.901G>T (p.Val301Phe) n.1042G>T | ClinVar dbSNP |
16 | g.20348484C= | CA2211941854 | UMOD | c.817G= (p.Val273=) c.916G= (p.Val306=) c.964G= (p.Val322=) c.901G= (p.Val301=) n.1042G= | |
16 | g.20348484C>G | CA394984251 | UMOD | c.817G>C (p.Val273Leu) c.916G>C (p.Val306Leu) c.964G>C (p.Val322Leu) c.901G>C (p.Val301Leu) n.1042G>C | dbSNP |
16 | g.20348484C>T | CA394984252 | UMOD | c.817G>A (p.Val273Ile) c.916G>A (p.Val306Ile) c.964G>A (p.Val322Ile) c.901G>A (p.Val301Ile) n.1042G>A | dbSNP gnomAD v4 |
16 | g.20348485G>A | CA494097030 | UMOD | c.816C>T (p.Tyr272=) c.915C>T (p.Tyr305=) c.963C>T (p.Tyr321=) c.900C>T (p.Tyr300=) n.1041C>T | gnomAD v4 |
16 | g.20348485G>C | CA394984255 | UMOD | c.816C>G (p.Tyr272Ter) c.915C>G (p.Tyr305Ter) c.963C>G (p.Tyr321Ter) c.900C>G (p.Tyr300Ter) n.1041C>G | dbSNP gnomAD v2 |
16 | g.20348485G= | CA2211941873 | UMOD | c.816C= (p.Tyr272=) c.915C= (p.Tyr305=) c.963C= (p.Tyr321=) c.900C= (p.Tyr300=) n.1041C= | |
16 | g.20348485G>T | CA7939400 | UMOD | c.816C>A (p.Tyr272Ter) c.915C>A (p.Tyr305Ter) c.963C>A (p.Tyr321Ter) c.900C>A (p.Tyr300Ter) n.1041C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348489_20348491del | CA2695222873 | UMOD | c.814_816del (p.Tyr272del) c.913_915del (p.Tyr305del) c.961_963del (p.Tyr321del) c.898_900del (p.Tyr300del) n.1039_1041del | |
16 | g.20348486T>A | CA394984259 | UMOD | c.815A>T (p.Tyr272Phe) c.914A>T (p.Tyr305Phe) c.962A>T (p.Tyr321Phe) c.899A>T (p.Tyr300Phe) n.1040A>T | |
16 | g.20348486T>C | CA394984261 | UMOD | c.815A>G (p.Tyr272Cys) c.914A>G (p.Tyr305Cys) c.962A>G (p.Tyr321Cys) c.899A>G (p.Tyr300Cys) n.1040A>G | |
16 | g.20348486T>G | CA394984263 | UMOD | c.815A>C (p.Tyr272Ser) c.914A>C (p.Tyr305Ser) c.962A>C (p.Tyr321Ser) c.899A>C (p.Tyr300Ser) n.1040A>C | |
16 | g.20348487A>C | CA394984273 | UMOD | c.814T>G (p.Tyr272Asp) c.913T>G (p.Tyr305Asp) c.961T>G (p.Tyr321Asp) c.898T>G (p.Tyr300Asp) n.1039T>G | |
16 | g.20348487A>G | CA394984270 | UMOD | c.814T>C (p.Tyr272His) c.913T>C (p.Tyr305His) c.961T>C (p.Tyr321His) c.898T>C (p.Tyr300His) n.1039T>C | gnomAD v4 |
16 | g.20348487A>T | CA394984266 | UMOD | c.814T>A (p.Tyr272Asn) c.913T>A (p.Tyr305Asn) c.961T>A (p.Tyr321Asn) c.898T>A (p.Tyr300Asn) n.1039T>A | COSMIC |
16 | g.20348488G>A | CA494097036 | UMOD | c.813C>T (p.Tyr271=) c.912C>T (p.Tyr304=) c.960C>T (p.Tyr320=) c.897C>T (p.Tyr299=) n.1038C>T | dbSNP gnomAD v2 |
16 | g.20348488G>C | CA394984275 | UMOD | c.813C>G (p.Tyr271Ter) c.912C>G (p.Tyr304Ter) c.960C>G (p.Tyr320Ter) c.897C>G (p.Tyr299Ter) n.1038C>G | |
16 | g.20348488G= | CA2211941877 | UMOD | c.813C= (p.Tyr271=) c.912C= (p.Tyr304=) c.960C= (p.Tyr320=) c.897C= (p.Tyr299=) n.1038C= | |
16 | g.20348488G>T | CA394984278 | UMOD | c.813C>A (p.Tyr271Ter) c.912C>A (p.Tyr304Ter) c.960C>A (p.Tyr320Ter) c.897C>A (p.Tyr299Ter) n.1038C>A | gnomAD v4 |
16 | g.20348489T>A | CA394984283 | UMOD | c.812A>T (p.Tyr271Phe) c.911A>T (p.Tyr304Phe) c.959A>T (p.Tyr320Phe) c.896A>T (p.Tyr299Phe) n.1037A>T | gnomAD v4 |
16 | g.20348489T>C | CA394984285 | UMOD | c.812A>G (p.Tyr271Cys) c.911A>G (p.Tyr304Cys) c.959A>G (p.Tyr320Cys) c.896A>G (p.Tyr299Cys) n.1037A>G | ClinVar |
16 | g.20348489T>G | CA394984286 | UMOD | c.812A>C (p.Tyr271Ser) c.911A>C (p.Tyr304Ser) c.959A>C (p.Tyr320Ser) c.896A>C (p.Tyr299Ser) n.1037A>C | |
16 | g.20348490A>C | CA394984288 | UMOD | c.811T>G (p.Tyr271Asp) c.910T>G (p.Tyr304Asp) c.958T>G (p.Tyr320Asp) c.895T>G (p.Tyr299Asp) n.1036T>G | |
16 | g.20348490A>G | CA394984291 | UMOD | c.811T>C (p.Tyr271His) c.910T>C (p.Tyr304His) c.958T>C (p.Tyr320His) c.895T>C (p.Tyr299His) n.1036T>C | |
16 | g.20348490A>T | CA394984293 | UMOD | c.811T>A (p.Tyr271Asn) c.910T>A (p.Tyr304Asn) c.958T>A (p.Tyr320Asn) c.895T>A (p.Tyr299Asn) n.1036T>A | |
16 | g.20348491G>A | CA494097043 | UMOD | c.810C>T (p.Gly270=) c.909C>T (p.Gly303=) c.957C>T (p.Gly319=) c.894C>T (p.Gly298=) n.1035C>T | |
16 | g.20348491G>C | CA494097044 | UMOD | c.810C>G (p.Gly270=) c.909C>G (p.Gly303=) c.957C>G (p.Gly319=) c.894C>G (p.Gly298=) n.1035C>G | dbSNP |
16 | g.20348491G= | CA2211941880 | UMOD | c.810C= (p.Gly270=) c.909C= (p.Gly303=) c.957C= (p.Gly319=) c.894C= (p.Gly298=) n.1035C= | |
16 | g.20348491G>T | CA494097045 | UMOD | c.810C>A (p.Gly270=) c.909C>A (p.Gly303=) c.957C>A (p.Gly319=) c.894C>A (p.Gly298=) n.1035C>A | gnomAD v4 |
16 | g.20348492C>A | CA394984299 | UMOD | c.809G>T (p.Gly270Val) c.908G>T (p.Gly303Val) c.956G>T (p.Gly319Val) c.893G>T (p.Gly298Val) n.1034G>T | |
16 | g.20348492C= | CA2211941884 | UMOD | c.809G= (p.Gly270=) c.908G= (p.Gly303=) c.956G= (p.Gly319=) c.893G= (p.Gly298=) n.1034G= | |
16 | g.20348492C>G | CA394984302 | UMOD | c.809G>C (p.Gly270Ala) c.908G>C (p.Gly303Ala) c.956G>C (p.Gly319Ala) c.893G>C (p.Gly298Ala) n.1034G>C | |
16 | g.20348492C>T | CA394984303 | UMOD | c.809G>A (p.Gly270Asp) c.908G>A (p.Gly303Asp) c.956G>A (p.Gly319Asp) c.893G>A (p.Gly298Asp) n.1034G>A | dbSNP gnomAD v2 |
16 | g.20348493C>A | CA394984317 | UMOD | c.808G>T (p.Gly270Cys) c.907G>T (p.Gly303Cys) c.955G>T (p.Gly319Cys) c.892G>T (p.Gly298Cys) n.1033G>T | ClinVar dbSNP |
16 | g.20348493C= | CA2211941892 | UMOD | c.808G= (p.Gly270=) c.907G= (p.Gly303=) c.955G= (p.Gly319=) c.892G= (p.Gly298=) n.1033G= | |
16 | g.20348493C>G | CA394984310 | UMOD | c.808G>C (p.Gly270Arg) c.907G>C (p.Gly303Arg) c.955G>C (p.Gly319Arg) c.892G>C (p.Gly298Arg) n.1033G>C | |
16 | g.20348493C>T | CA7939401 | UMOD | c.808G>A (p.Gly270Ser) c.907G>A (p.Gly303Ser) c.955G>A (p.Gly319Ser) c.892G>A (p.Gly298Ser) n.1033G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348494G>A | CA494097054 | UMOD | c.807C>T (p.Gly269=) c.906C>T (p.Gly302=) c.954C>T (p.Gly318=) c.891C>T (p.Gly297=) n.1032C>T | gnomAD v4 |
16 | g.20348494G>C | CA494097055 | UMOD | c.807C>G (p.Gly269=) c.906C>G (p.Gly302=) c.954C>G (p.Gly318=) c.891C>G (p.Gly297=) n.1032C>G | |
16 | g.20348494G= | CA2211941902 | UMOD | c.807C= (p.Gly269=) c.906C= (p.Gly302=) c.954C= (p.Gly318=) c.891C= (p.Gly297=) n.1032C= | |
16 | g.20348494G>T | CA494097056 | UMOD | c.807C>A (p.Gly269=) c.906C>A (p.Gly302=) c.954C>A (p.Gly318=) c.891C>A (p.Gly297=) n.1032C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348494_20348498del | CA2511452837 | UMOD | c.803_807del (p.Ala268GlyfsTer29) c.902_906del (p.Ala301GlyfsTer29) c.950_954del (p.Ala317GlyfsTer29) c.887_891del (p.Ala296GlyfsTer29) n.1028_1032del | |
16 | g.20348495C>A | CA394984320 | UMOD | c.806G>T (p.Gly269Val) c.905G>T (p.Gly302Val) c.953G>T (p.Gly318Val) c.890G>T (p.Gly297Val) n.1031G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348495C= | CA2211941905 | UMOD | c.806G= (p.Gly269=) c.905G= (p.Gly302=) c.953G= (p.Gly318=) c.890G= (p.Gly297=) n.1031G= | |
16 | g.20348495C>G | CA394984326 | UMOD | c.806G>C (p.Gly269Ala) c.905G>C (p.Gly302Ala) c.953G>C (p.Gly318Ala) c.890G>C (p.Gly297Ala) n.1031G>C | |
16 | g.20348495C>T | CA394984322 | UMOD | c.806G>A (p.Gly269Asp) c.905G>A (p.Gly302Asp) c.953G>A (p.Gly318Asp) c.890G>A (p.Gly297Asp) n.1031G>A | gnomAD v4 |
16 | g.20348496C>A | CA394984329 | UMOD | c.805G>T (p.Gly269Cys) c.904G>T (p.Gly302Cys) c.952G>T (p.Gly318Cys) c.889G>T (p.Gly297Cys) n.1030G>T | gnomAD v4 |
16 | g.20348496C= | CA2211941910 | UMOD | c.805G= (p.Gly269=) c.904G= (p.Gly302=) c.952G= (p.Gly318=) c.889G= (p.Gly297=) n.1030G= | |
16 | g.20348496C>G | CA394984332 | UMOD | c.805G>C (p.Gly269Arg) c.904G>C (p.Gly302Arg) c.952G>C (p.Gly318Arg) c.889G>C (p.Gly297Arg) n.1030G>C | |
16 | g.20348496C>T | CA7939402 | UMOD | c.805G>A (p.Gly269Ser) c.904G>A (p.Gly302Ser) c.952G>A (p.Gly318Ser) c.889G>A (p.Gly297Ser) n.1030G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348497G>A | CA494097059 | UMOD | c.804C>T (p.Ala268=) c.903C>T (p.Ala301=) c.951C>T (p.Ala317=) c.888C>T (p.Ala296=) n.1029C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348497G>C | CA7939404 | UMOD | c.804C>G (p.Ala268=) c.903C>G (p.Ala301=) c.951C>G (p.Ala317=) c.888C>G (p.Ala296=) n.1029C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348497G= | CA2211941918 | UMOD | c.804C= (p.Ala268=) c.903C= (p.Ala301=) c.951C= (p.Ala317=) c.888C= (p.Ala296=) n.1029C= | |
16 | g.20348497G>T | CA7939403 | UMOD | c.804C>A (p.Ala268=) c.903C>A (p.Ala301=) c.951C>A (p.Ala317=) c.888C>A (p.Ala296=) n.1029C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348498G>A | CA394984345 | UMOD | c.803C>T (p.Ala268Val) c.902C>T (p.Ala301Val) c.950C>T (p.Ala317Val) c.887C>T (p.Ala296Val) n.1028C>T | gnomAD v4 |
16 | g.20348498G>C | CA394984350 | UMOD | c.803C>G (p.Ala268Gly) c.902C>G (p.Ala301Gly) c.950C>G (p.Ala317Gly) c.887C>G (p.Ala296Gly) n.1028C>G | |
16 | g.20348498G>T | CA394984354 | UMOD | c.803C>A (p.Ala268Asp) c.902C>A (p.Ala301Asp) c.950C>A (p.Ala317Asp) c.887C>A (p.Ala296Asp) n.1028C>A | gnomAD v4 |
16 | g.20348498_20348499insAT | CA2501700175 | UMOD | c.802_803insAT (p.Ala268AspfsTer10) c.901_902insAT (p.Ala301AspfsTer10) c.949_950insAT (p.Ala317AspfsTer10) c.886_887insAT (p.Ala296AspfsTer10) n.1027_1028insAT | |
16 | g.20348499C>A | CA394984363 | UMOD | c.802G>T (p.Ala268Ser) c.901G>T (p.Ala301Ser) c.949G>T (p.Ala317Ser) c.886G>T (p.Ala296Ser) n.1027G>T | |
16 | g.20348499C>G | CA394984364 | UMOD | c.802G>C (p.Ala268Pro) c.901G>C (p.Ala301Pro) c.949G>C (p.Ala317Pro) c.886G>C (p.Ala296Pro) n.1027G>C | |
16 | g.20348499C>T | CA394984365 | UMOD | c.802G>A (p.Ala268Thr) c.901G>A (p.Ala301Thr) c.949G>A (p.Ala317Thr) c.886G>A (p.Ala296Thr) n.1027G>A | |
16 | g.20348500A>C | CA394984368 | UMOD | c.801T>G (p.Cys267Trp) c.900T>G (p.Cys300Trp) c.948T>G (p.Cys316Trp) c.885T>G (p.Cys295Trp) n.1026T>G | |
16 | g.20348500A>G | CA494097064 | UMOD | c.801T>C (p.Cys267=) c.900T>C (p.Cys300=) c.948T>C (p.Cys316=) c.885T>C (p.Cys295=) n.1026T>C | |
16 | g.20348500A>T | CA394984366 | UMOD | c.801T>A (p.Cys267Ter) c.900T>A (p.Cys300Ter) c.948T>A (p.Cys316Ter) c.885T>A (p.Cys295Ter) n.1026T>A | |
16 | g.20348501C>A | CA394984370 | UMOD | c.800G>T (p.Cys267Phe) c.899G>T (p.Cys300Phe) c.947G>T (p.Cys316Phe) c.884G>T (p.Cys295Phe) n.1025G>T | ClinVar dbSNP |
16 | g.20348501C>G | CA394984378 | UMOD | c.800G>C (p.Cys267Ser) c.899G>C (p.Cys300Ser) c.947G>C (p.Cys316Ser) c.884G>C (p.Cys295Ser) n.1025G>C | |
16 | g.20348501C>T | CA394984381 | UMOD | c.800G>A (p.Cys267Tyr) c.899G>A (p.Cys300Tyr) c.947G>A (p.Cys316Tyr) c.884G>A (p.Cys295Tyr) n.1025G>A | |
16 | g.20348502A>C | CA394984385 | UMOD | c.799T>G (p.Cys267Gly) c.898T>G (p.Cys300Gly) c.946T>G (p.Cys316Gly) c.883T>G (p.Cys295Gly) n.1024T>G | |
16 | g.20348502A>G | CA394984393 | UMOD | c.799T>C (p.Cys267Arg) c.898T>C (p.Cys300Arg) c.946T>C (p.Cys316Arg) c.883T>C (p.Cys295Arg) n.1024T>C | ClinVar |
16 | g.20348502A>T | CA394984395 | UMOD | c.799T>A (p.Cys267Ser) c.898T>A (p.Cys300Ser) c.946T>A (p.Cys316Ser) c.883T>A (p.Cys295Ser) n.1024T>A | |
16 | g.20348503G>A | CA494097066 | UMOD | c.798C>T (p.Ala266=) c.897C>T (p.Ala299=) c.945C>T (p.Ala315=) c.882C>T (p.Ala294=) n.1023C>T | |
16 | g.20348503G>C | CA494097067 | UMOD | c.798C>G (p.Ala266=) c.897C>G (p.Ala299=) c.945C>G (p.Ala315=) c.882C>G (p.Ala294=) n.1023C>G | |
16 | g.20348503G>T | CA494097068 | UMOD | c.798C>A (p.Ala266=) c.897C>A (p.Ala299=) c.945C>A (p.Ala315=) c.882C>A (p.Ala294=) n.1023C>A | |
16 | g.20348503_20348504delinsTT | CA645590585 | UMOD | c.797_798delinsAA (p.Ala266Glu) c.896_897delinsAA (p.Ala299Glu) c.944_945delinsAA (p.Ala315Glu) c.881_882delinsAA (p.Ala294Glu) n.1022_1023delinsAA | COSMIC COSMIC |
16 | g.20348504G>A | CA216159 | UMOD | c.797C>T (p.Ala266Val) c.896C>T (p.Ala299Val) c.944C>T (p.Ala315Val) c.881C>T (p.Ala294Val) n.1022C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348504G>C | CA394984398 | UMOD | c.797C>G (p.Ala266Gly) c.896C>G (p.Ala299Gly) c.944C>G (p.Ala315Gly) c.881C>G (p.Ala294Gly) n.1022C>G | |
16 | g.20348504G= | CA2211941920 | UMOD | c.797C= (p.Ala266=) c.896C= (p.Ala299=) c.944C= (p.Ala315=) c.881C= (p.Ala294=) n.1022C= | |
16 | g.20348504G>T | CA394984401 | UMOD | c.797C>A (p.Ala266Asp) c.896C>A (p.Ala299Asp) c.944C>A (p.Ala315Asp) c.881C>A (p.Ala294Asp) n.1022C>A | gnomAD v4 |
16 | g.20348505C>A | CA7939405 | UMOD | c.796G>T (p.Ala266Ser) c.895G>T (p.Ala299Ser) c.943G>T (p.Ala315Ser) c.880G>T (p.Ala294Ser) n.1021G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348505C= | CA2211941925 | UMOD | c.796G= (p.Ala266=) c.895G= (p.Ala299=) c.943G= (p.Ala315=) c.880G= (p.Ala294=) n.1021G= | |
16 | g.20348505C>G | CA394984404 | UMOD | c.796G>C (p.Ala266Pro) c.895G>C (p.Ala299Pro) c.943G>C (p.Ala315Pro) c.880G>C (p.Ala294Pro) n.1021G>C | |
16 | g.20348505C>T | CA394984405 | UMOD | c.796G>A (p.Ala266Thr) c.895G>A (p.Ala299Thr) c.943G>A (p.Ala315Thr) c.880G>A (p.Ala294Thr) n.1021G>A | gnomAD v4 |
16 | g.20348506C>A | CA394984408 | UMOD | c.795G>T (p.Lys265Asn) c.894G>T (p.Lys298Asn) c.942G>T (p.Lys314Asn) c.879G>T (p.Lys293Asn) n.1020G>T | gnomAD v4 |
16 | g.20348506C= | CA2211941929 | UMOD | c.795G= (p.Lys265=) c.894G= (p.Lys298=) c.942G= (p.Lys314=) c.879G= (p.Lys293=) n.1020G= | |
16 | g.20348506C>G | CA394984406 | UMOD | c.795G>C (p.Lys265Asn) c.894G>C (p.Lys298Asn) c.942G>C (p.Lys314Asn) c.879G>C (p.Lys293Asn) n.1020G>C | |
16 | g.20348506C>T | CA494097075 | UMOD | c.795G>A (p.Lys265=) c.894G>A (p.Lys298=) c.942G>A (p.Lys314=) c.879G>A (p.Lys293=) n.1020G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348507T>A | CA7939406 | UMOD | c.794A>T (p.Lys265Met) c.893A>T (p.Lys298Met) c.941A>T (p.Lys314Met) c.878A>T (p.Lys293Met) n.1019A>T | dbSNP ExAC gnomAD v2 |
16 | g.20348507T>C | CA394984416 | UMOD | c.794A>G (p.Lys265Arg) c.893A>G (p.Lys298Arg) c.941A>G (p.Lys314Arg) c.878A>G (p.Lys293Arg) n.1019A>G | gnomAD v4 |
16 | g.20348507T>G | CA394984418 | UMOD | c.794A>C (p.Lys265Thr) c.893A>C (p.Lys298Thr) c.941A>C (p.Lys314Thr) c.878A>C (p.Lys293Thr) n.1019A>C | gnomAD v4 |
16 | g.20348507T= | CA2211941934 | UMOD | c.794A= (p.Lys265=) c.893A= (p.Lys298=) c.941A= (p.Lys314=) c.878A= (p.Lys293=) n.1019A= | |
16 | g.20348508T>A | CA394984421 | UMOD | c.793A>T (p.Lys265Ter) c.892A>T (p.Lys298Ter) c.940A>T (p.Lys314Ter) c.877A>T (p.Lys293Ter) n.1018A>T | |
16 | g.20348508T>C | CA394984426 | UMOD | c.793A>G (p.Lys265Glu) c.892A>G (p.Lys298Glu) c.940A>G (p.Lys314Glu) c.877A>G (p.Lys293Glu) n.1018A>G | |
16 | g.20348508T>G | CA394984429 | UMOD | c.793A>C (p.Lys265Gln) c.892A>C (p.Lys298Gln) c.940A>C (p.Lys314Gln) c.877A>C (p.Lys293Gln) n.1018A>C | |
16 | g.20348509_20348513del | CA2806163729 | UMOD | c.789_793del (p.Val264GlyfsTer?) c.888_892del (p.Val297GlyfsTer?) c.936_940del (p.Val313GlyfsTer?) c.873_877del (p.Val292GlyfsTer?) n.1014_1018del | |
16 | g.20348508_20348515delinsTCACCTGG | CA2211941936 | UMOD | c.786_793delinsCCAGGTGA (p.Val262=) c.885_892delinsCCAGGTGA (p.Val295=) c.933_940delinsCCAGGTGA (p.Val311=) c.870_877delinsCCAGGTGA (p.Val290=) n.1011_1018delinsCCAGGTGA | |
16 | g.20348509C>A | CA494097080 | UMOD | c.792G>T (p.Val264=) c.891G>T (p.Val297=) c.939G>T (p.Val313=) c.876G>T (p.Val292=) n.1017G>T | dbSNP gnomAD v4 |
16 | g.20348509C= | CA2211941944 | UMOD | c.792G= (p.Val264=) c.891G= (p.Val297=) c.939G= (p.Val313=) c.876G= (p.Val292=) n.1017G= | |
16 | g.20348509C>G | CA494097081 | UMOD | c.792G>C (p.Val264=) c.891G>C (p.Val297=) c.939G>C (p.Val313=) c.876G>C (p.Val292=) n.1017G>C | |
16 | g.20348509C>T | CA147649 | UMOD | c.792G>A (p.Val264=) c.891G>A (p.Val297=) c.939G>A (p.Val313=) c.876G>A (p.Val292=) n.1017G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348509_20348515del | CA2211941945 | UMOD | c.786_792del (p.Gln263ArgfsTer12) c.885_891del (p.Gln296ArgfsTer12) c.933_939del (p.Gln312ArgfsTer12) c.870_876del (p.Gln291ArgfsTer12) n.1011_1017del | dbSNP |
16 | g.20348510A= | CA2211941961 | UMOD | c.791T= (p.Val264=) c.890T= (p.Val297=) c.938T= (p.Val313=) c.875T= (p.Val292=) n.1016T= | |
16 | g.20348510A>C | CA394984434 | UMOD | c.791T>G (p.Val264Gly) c.890T>G (p.Val297Gly) c.938T>G (p.Val313Gly) c.875T>G (p.Val292Gly) n.1016T>G | dbSNP |
16 | g.20348510A>G | CA394984435 | UMOD | c.791T>C (p.Val264Ala) c.890T>C (p.Val297Ala) c.938T>C (p.Val313Ala) c.875T>C (p.Val292Ala) n.1016T>C | |
16 | g.20348510A>T | CA394984437 | UMOD | c.791T>A (p.Val264Glu) c.890T>A (p.Val297Glu) c.938T>A (p.Val313Glu) c.875T>A (p.Val292Glu) n.1016T>A | |
16 | g.20348511C>A | CA394984439 | UMOD | c.790G>T (p.Val264Leu) c.889G>T (p.Val297Leu) c.937G>T (p.Val313Leu) c.874G>T (p.Val292Leu) n.1015G>T | |
16 | g.20348511C= | CA2211941968 | UMOD | c.790G= (p.Val264=) c.889G= (p.Val297=) c.937G= (p.Val313=) c.874G= (p.Val292=) n.1015G= | |
16 | g.20348511C>G | CA394984441 | UMOD | c.790G>C (p.Val264Leu) c.889G>C (p.Val297Leu) c.937G>C (p.Val313Leu) c.874G>C (p.Val292Leu) n.1015G>C | COSMIC COSMIC |
16 | g.20348511C>T | CA7939407 | UMOD | c.790G>A (p.Val264Met) c.889G>A (p.Val297Met) c.937G>A (p.Val313Met) c.874G>A (p.Val292Met) n.1015G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348512C>A | CA394984449 | UMOD | c.789G>T (p.Gln263His) c.888G>T (p.Gln296His) c.936G>T (p.Gln312His) c.873G>T (p.Gln291His) n.1014G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348512C= | CA2211941973 | UMOD | c.789G= (p.Gln263=) c.888G= (p.Gln296=) c.936G= (p.Gln312=) c.873G= (p.Gln291=) n.1014G= | |
16 | g.20348512C>G | CA394984446 | UMOD | c.789G>C (p.Gln263His) c.888G>C (p.Gln296His) c.936G>C (p.Gln312His) c.873G>C (p.Gln291His) n.1014G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.20348512C>T | CA494097090 | UMOD | c.789G>A (p.Gln263=) c.888G>A (p.Gln296=) c.936G>A (p.Gln312=) c.873G>A (p.Gln291=) n.1014G>A | gnomAD v4 |
16 | g.20348513T>A | CA394984454 | UMOD | c.788A>T (p.Gln263Leu) c.887A>T (p.Gln296Leu) c.935A>T (p.Gln312Leu) c.872A>T (p.Gln291Leu) n.1013A>T | |
16 | g.20348513T>C | CA394984456 | UMOD | c.788A>G (p.Gln263Arg) c.887A>G (p.Gln296Arg) c.935A>G (p.Gln312Arg) c.872A>G (p.Gln291Arg) n.1013A>G | gnomAD v4 |
16 | g.20348513T>G | CA394984458 | UMOD | c.788A>C (p.Gln263Pro) c.887A>C (p.Gln296Pro) c.935A>C (p.Gln312Pro) c.872A>C (p.Gln291Pro) n.1013A>C | |
16 | g.20348514G>A | CA394984462 | UMOD | c.787C>T (p.Gln263Ter) c.886C>T (p.Gln296Ter) c.934C>T (p.Gln312Ter) c.871C>T (p.Gln291Ter) n.1012C>T | COSMIC |
16 | g.20348514G>C | CA394984465 | UMOD | c.787C>G (p.Gln263Glu) c.886C>G (p.Gln296Glu) c.934C>G (p.Gln312Glu) c.871C>G (p.Gln291Glu) n.1012C>G | |
16 | g.20348514G>T | CA394984467 | UMOD | c.787C>A (p.Gln263Lys) c.886C>A (p.Gln296Lys) c.934C>A (p.Gln312Lys) c.871C>A (p.Gln291Lys) n.1012C>A | |
16 | g.20348515G>A | CA7939408 | UMOD | c.786C>T (p.Val262=) c.885C>T (p.Val295=) c.933C>T (p.Val311=) c.870C>T (p.Val290=) n.1011C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348515G>C | CA494097094 | UMOD | c.786C>G (p.Val262=) c.885C>G (p.Val295=) c.933C>G (p.Val311=) c.870C>G (p.Val290=) n.1011C>G | |
16 | g.20348515G= | CA2211941983 | UMOD | c.786C= (p.Val262=) c.885C= (p.Val295=) c.933C= (p.Val311=) c.870C= (p.Val290=) n.1011C= | |
16 | g.20348515G>T | CA494097096 | UMOD | c.786C>A (p.Val262=) c.885C>A (p.Val295=) c.933C>A (p.Val311=) c.870C>A (p.Val290=) n.1011C>A | |
16 | g.20348515_20348516del | CA2806163730 | UMOD | c.785_786del (p.Val262AlafsTer?) c.884_885del (p.Val295AlafsTer?) c.932_933del (p.Val311AlafsTer?) c.869_870del (p.Val290AlafsTer?) n.1010_1011del | |
16 | g.20348516A= | CA2211941987 | UMOD | c.785T= (p.Val262=) c.884T= (p.Val295=) c.932T= (p.Val311=) c.869T= (p.Val290=) n.1010T= | |
16 | g.20348516A>C | CA394984473 | UMOD | c.785T>G (p.Val262Gly) c.884T>G (p.Val295Gly) c.932T>G (p.Val311Gly) c.869T>G (p.Val290Gly) n.1010T>G | |
16 | g.20348516A>G | CA394984475 | UMOD | c.785T>C (p.Val262Ala) c.884T>C (p.Val295Ala) c.932T>C (p.Val311Ala) c.869T>C (p.Val290Ala) n.1010T>C | dbSNP gnomAD v4 |
16 | g.20348516A>T | CA394984477 | UMOD | c.785T>A (p.Val262Asp) c.884T>A (p.Val295Asp) c.932T>A (p.Val311Asp) c.869T>A (p.Val290Asp) n.1010T>A | |
16 | g.20348517C>A | CA394984480 | UMOD | c.784G>T (p.Val262Phe) c.883G>T (p.Val295Phe) c.931G>T (p.Val311Phe) c.868G>T (p.Val290Phe) n.1009G>T | |
16 | g.20348517C>G | CA394984482 | UMOD | c.784G>C (p.Val262Leu) c.883G>C (p.Val295Leu) c.931G>C (p.Val311Leu) c.868G>C (p.Val290Leu) n.1009G>C | |
16 | g.20348517C>T | CA394984495 | UMOD | c.784G>A (p.Val262Ile) c.883G>A (p.Val295Ile) c.931G>A (p.Val311Ile) c.868G>A (p.Val290Ile) n.1009G>A | |
16 | g.20348518G>A | CA494097097 | UMOD | c.783C>T (p.Ser261=) c.882C>T (p.Ser294=) c.930C>T (p.Ser310=) c.867C>T (p.Ser289=) n.1008C>T | |
16 | g.20348518G>C | CA494097098 | UMOD | c.783C>G (p.Ser261=) c.882C>G (p.Ser294=) c.930C>G (p.Ser310=) c.867C>G (p.Ser289=) n.1008C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348518G= | CA2211941992 | UMOD | c.783C= (p.Ser261=) c.882C= (p.Ser294=) c.930C= (p.Ser310=) c.867C= (p.Ser289=) n.1008C= | |
16 | g.20348518G>T | CA494097099 | UMOD | c.783C>A (p.Ser261=) c.882C>A (p.Ser294=) c.930C>A (p.Ser310=) c.867C>A (p.Ser289=) n.1008C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348519G>A | CA394984503 | UMOD | c.782C>T (p.Ser261Phe) c.881C>T (p.Ser294Phe) c.929C>T (p.Ser310Phe) c.866C>T (p.Ser289Phe) n.1007C>T | gnomAD v4 |
16 | g.20348519G>C | CA394984506 | UMOD | c.782C>G (p.Ser261Cys) c.881C>G (p.Ser294Cys) c.929C>G (p.Ser310Cys) c.866C>G (p.Ser289Cys) n.1007C>G | |
16 | g.20348519G>T | CA394984500 | UMOD | c.782C>A (p.Ser261Tyr) c.881C>A (p.Ser294Tyr) c.929C>A (p.Ser310Tyr) c.866C>A (p.Ser289Tyr) n.1007C>A | gnomAD v4 |
16 | g.20348519_20348527delinsGACGCATCC | CA2211941996 | UMOD | c.774_782delinsGGATGCGTC (p.Trp258=) c.873_881delinsGGATGCGTC (p.Trp291=) c.921_929delinsGGATGCGTC (p.Trp307=) c.858_866delinsGGATGCGTC (p.Trp286=) n.999_1007delinsGGATGCGTC | |
16 | g.20348520A>C | CA394984511 | UMOD | c.781T>G (p.Ser261Ala) c.880T>G (p.Ser294Ala) c.928T>G (p.Ser310Ala) c.865T>G (p.Ser289Ala) n.1006T>G | |
16 | g.20348520A>G | CA394984508 | UMOD | c.781T>C (p.Ser261Pro) c.880T>C (p.Ser294Pro) c.928T>C (p.Ser310Pro) c.865T>C (p.Ser289Pro) n.1006T>C | gnomAD v4 |
16 | g.20348520A>T | CA394984515 | UMOD | c.781T>A (p.Ser261Thr) c.880T>A (p.Ser294Thr) c.928T>A (p.Ser310Thr) c.865T>A (p.Ser289Thr) n.1006T>A | |
16 | g.20348520_20348527del | CA2211942001 | UMOD | c.774_781del (p.Trp258CysfsTer?) c.873_880del (p.Trp291CysfsTer?) c.921_928del (p.Trp307CysfsTer?) c.858_865del (p.Trp286CysfsTer?) n.999_1006del | dbSNP |
16 | g.20348521C>A | CA494097106 | UMOD | c.780G>T (p.Ala260=) c.879G>T (p.Ala293=) c.927G>T (p.Ala309=) c.864G>T (p.Ala288=) n.1005G>T | gnomAD v4 |
16 | g.20348521C= | CA2211942004 | UMOD | c.780G= (p.Ala260=) c.879G= (p.Ala293=) c.927G= (p.Ala309=) c.864G= (p.Ala288=) n.1005G= | |
16 | g.20348521C>G | CA494097107 | UMOD | c.780G>C (p.Ala260=) c.879G>C (p.Ala293=) c.927G>C (p.Ala309=) c.864G>C (p.Ala288=) n.1005G>C | |
16 | g.20348521C>T | CA494097108 | UMOD | c.780G>A (p.Ala260=) c.879G>A (p.Ala293=) c.927G>A (p.Ala309=) c.864G>A (p.Ala288=) n.1005G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348522G>A | CA394984518 | UMOD | c.779C>T (p.Ala260Val) c.878C>T (p.Ala293Val) c.926C>T (p.Ala309Val) c.863C>T (p.Ala288Val) n.1004C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.20348522G>C | CA394984519 | UMOD | c.779C>G (p.Ala260Gly) c.878C>G (p.Ala293Gly) c.926C>G (p.Ala309Gly) c.863C>G (p.Ala288Gly) n.1004C>G | |
16 | g.20348522G= | CA2211942013 | UMOD | c.779C= (p.Ala260=) c.878C= (p.Ala293=) c.926C= (p.Ala309=) c.863C= (p.Ala288=) n.1004C= | |
16 | g.20348522G>T | CA279299665 | UMOD | c.779C>A (p.Ala260Glu) c.878C>A (p.Ala293Glu) c.926C>A (p.Ala309Glu) c.863C>A (p.Ala288Glu) n.1004C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348523C>A | CA394984522 | UMOD | c.778G>T (p.Ala260Ser) c.877G>T (p.Ala293Ser) c.925G>T (p.Ala309Ser) c.862G>T (p.Ala288Ser) n.1003G>T | |
16 | g.20348523C>G | CA394984523 | UMOD | c.778G>C (p.Ala260Pro) c.877G>C (p.Ala293Pro) c.925G>C (p.Ala309Pro) c.862G>C (p.Ala288Pro) n.1003G>C | |
16 | g.20348523C>T | CA394984524 | UMOD | c.778G>A (p.Ala260Thr) c.877G>A (p.Ala293Thr) c.925G>A (p.Ala309Thr) c.862G>A (p.Ala288Thr) n.1003G>A | |
16 | g.20348524A>C | CA394984525 | UMOD | c.777T>G (p.Asp259Glu) c.876T>G (p.Asp292Glu) c.924T>G (p.Asp308Glu) c.861T>G (p.Asp287Glu) n.1002T>G | |
16 | g.20348524A>G | CA494097109 | UMOD | c.777T>C (p.Asp259=) c.876T>C (p.Asp292=) c.924T>C (p.Asp308=) c.861T>C (p.Asp287=) n.1002T>C | gnomAD v4 |
16 | g.20348524A>T | CA394984529 | UMOD | c.777T>A (p.Asp259Glu) c.876T>A (p.Asp292Glu) c.924T>A (p.Asp308Glu) c.861T>A (p.Asp287Glu) n.1002T>A | |
16 | g.20348525T>A | CA394984532 | UMOD | c.776A>T (p.Asp259Val) c.875A>T (p.Asp292Val) c.923A>T (p.Asp308Val) c.860A>T (p.Asp287Val) n.1001A>T | |
16 | g.20348525T>C | CA394984534 | UMOD | c.776A>G (p.Asp259Gly) c.875A>G (p.Asp292Gly) c.923A>G (p.Asp308Gly) c.860A>G (p.Asp287Gly) n.1001A>G | COSMIC |
16 | g.20348525T>G | CA394984536 | UMOD | c.776A>C (p.Asp259Ala) c.875A>C (p.Asp292Ala) c.923A>C (p.Asp308Ala) c.860A>C (p.Asp287Ala) n.1001A>C | |
16 | g.20348525_20348527delinsTCC | CA2211942017 | UMOD | c.774_776delinsGGA (p.Trp258=) c.873_875delinsGGA (p.Trp291=) c.921_923delinsGGA (p.Trp307=) c.858_860delinsGGA (p.Trp286=) n.999_1001delinsGGA | |
16 | g.20348526C>A | CA394984542 | UMOD | c.775G>T (p.Asp259Tyr) c.874G>T (p.Asp292Tyr) c.922G>T (p.Asp308Tyr) c.859G>T (p.Asp287Tyr) n.1000G>T | |
16 | g.20348526C= | CA2211942021 | UMOD | c.775G= (p.Asp259=) c.874G= (p.Asp292=) c.922G= (p.Asp308=) c.859G= (p.Asp287=) n.1000G= | |
16 | g.20348526C>G | CA394984541 | UMOD | c.775G>C (p.Asp259His) c.874G>C (p.Asp292His) c.922G>C (p.Asp308His) c.859G>C (p.Asp287His) n.1000G>C | |
16 | g.20348526C>T | CA394984539 | UMOD | c.775G>A (p.Asp259Asn) c.874G>A (p.Asp292Asn) c.922G>A (p.Asp308Asn) c.859G>A (p.Asp287Asn) n.1000G>A | dbSNP gnomAD v2 |
16 | g.20348527_20348528del | CA7939409 | UMOD | c.774_775del (p.Trp258Ter) c.873_874del (p.Trp291Ter) c.921_922del (p.Trp307Ter) c.858_859del (p.Trp286Ter) n.999_1000del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348527C>A | CA394984544 | UMOD | c.774G>T (p.Trp258Cys) c.873G>T (p.Trp291Cys) c.921G>T (p.Trp307Cys) c.858G>T (p.Trp286Cys) n.999G>T | gnomAD v4 |
16 | g.20348527C= | CA2211942026 | UMOD | c.774G= (p.Trp258=) c.873G= (p.Trp291=) c.921G= (p.Trp307=) c.858G= (p.Trp286=) n.999G= | |
16 | g.20348527C>G | CA394984546 | UMOD | c.774G>C (p.Trp258Cys) c.873G>C (p.Trp291Cys) c.921G>C (p.Trp307Cys) c.858G>C (p.Trp286Cys) n.999G>C | ClinVar dbSNP |
16 | g.20348527C>T | CA394984548 | UMOD | c.774G>A (p.Trp258Ter) c.873G>A (p.Trp291Ter) c.921G>A (p.Trp307Ter) c.858G>A (p.Trp286Ter) n.999G>A | |
16 | g.20348528C>A | CA394984550 | UMOD | c.773G>T (p.Trp258Leu) c.872G>T (p.Trp291Leu) c.920G>T (p.Trp307Leu) c.857G>T (p.Trp286Leu) n.998G>T | gnomAD v4 |
16 | g.20348528C>G | CA394984554 | UMOD | c.773G>C (p.Trp258Ser) c.872G>C (p.Trp291Ser) c.920G>C (p.Trp307Ser) c.857G>C (p.Trp286Ser) n.998G>C | |
16 | g.20348528C>T | CA394984558 | UMOD | c.773G>A (p.Trp258Ter) c.872G>A (p.Trp291Ter) c.920G>A (p.Trp307Ter) c.857G>A (p.Trp286Ter) n.998G>A | gnomAD v4 |
16 | g.20348529A>C | CA394984559 | UMOD | c.772T>G (p.Trp258Gly) c.871T>G (p.Trp291Gly) c.919T>G (p.Trp307Gly) c.856T>G (p.Trp286Gly) n.997T>G | |
16 | g.20348529A>G | CA394984562 | UMOD | c.772T>C (p.Trp258Arg) c.871T>C (p.Trp291Arg) c.919T>C (p.Trp307Arg) c.856T>C (p.Trp286Arg) n.997T>C | gnomAD v4 |
16 | g.20348529A>T | CA394984566 | UMOD | c.772T>A (p.Trp258Arg) c.871T>A (p.Trp291Arg) c.919T>A (p.Trp307Arg) c.856T>A (p.Trp286Arg) n.997T>A | |
16 | g.20348530C>A | CA494097120 | UMOD | c.771G>T (p.Leu257=) c.870G>T (p.Leu290=) c.918G>T (p.Leu306=) c.855G>T (p.Leu285=) n.996G>T | |
16 | g.20348530C>G | CA494097118 | UMOD | c.771G>C (p.Leu257=) c.870G>C (p.Leu290=) c.918G>C (p.Leu306=) c.855G>C (p.Leu285=) n.996G>C | |
16 | g.20348530C>T | CA494097119 | UMOD | c.771G>A (p.Leu257=) c.870G>A (p.Leu290=) c.918G>A (p.Leu306=) c.855G>A (p.Leu285=) n.996G>A | gnomAD v4 |
16 | g.20348531A>C | CA394984570 | UMOD | c.770T>G (p.Leu257Arg) c.869T>G (p.Leu290Arg) c.917T>G (p.Leu306Arg) c.854T>G (p.Leu285Arg) n.995T>G | |
16 | g.20348531A>G | CA394984572 | UMOD | c.770T>C (p.Leu257Pro) c.869T>C (p.Leu290Pro) c.917T>C (p.Leu306Pro) c.854T>C (p.Leu285Pro) n.995T>C | gnomAD v4 |
16 | g.20348531A>T | CA394984573 | UMOD | c.770T>A (p.Leu257Gln) c.869T>A (p.Leu290Gln) c.917T>A (p.Leu306Gln) c.854T>A (p.Leu285Gln) n.995T>A | gnomAD v4 |
16 | g.20348531_20348541delinsAGGCAGCAGTG | CA2211942031 | UMOD | c.760_770delinsCACTGCTGCCT (p.His254=) c.859_869delinsCACTGCTGCCT (p.His287=) c.907_917delinsCACTGCTGCCT (p.His303=) c.844_854delinsCACTGCTGCCT (p.His282=) n.985_995delinsCACTGCTGCCT | |
16 | g.20348532G>A | CA494097124 | UMOD | c.769C>T (p.Leu257=) c.868C>T (p.Leu290=) c.916C>T (p.Leu306=) c.853C>T (p.Leu285=) n.994C>T | |
16 | g.20348532G>C | CA394984576 | UMOD | c.769C>G (p.Leu257Val) c.868C>G (p.Leu290Val) c.916C>G (p.Leu306Val) c.853C>G (p.Leu285Val) n.994C>G | |
16 | g.20348532G>T | CA394984577 | UMOD | c.769C>A (p.Leu257Met) c.868C>A (p.Leu290Met) c.916C>A (p.Leu306Met) c.853C>A (p.Leu285Met) n.994C>A | gnomAD v4 |
16 | g.20348533_20348542del | CA2211942036 | UMOD | c.760_769del (p.His254CysfsTer8) c.859_868del (p.His287CysfsTer8) c.907_916del (p.His303CysfsTer8) c.844_853del (p.His282CysfsTer8) n.985_994del | dbSNP |
16 | g.20348533G>A | CA7939410 | UMOD | c.768C>T (p.Cys256=) c.867C>T (p.Cys289=) c.915C>T (p.Cys305=) c.852C>T (p.Cys284=) n.993C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348533G>C | CA394984578 | UMOD | c.768C>G (p.Cys256Trp) c.867C>G (p.Cys289Trp) c.915C>G (p.Cys305Trp) c.852C>G (p.Cys284Trp) n.993C>G | ClinVar dbSNP |
16 | g.20348533G= | CA2211942042 | UMOD | c.768C= (p.Cys256=) c.867C= (p.Cys289=) c.915C= (p.Cys305=) c.852C= (p.Cys284=) n.993C= | |
16 | g.20348533G>T | CA394984579 | UMOD | c.768C>A (p.Cys256Ter) c.867C>A (p.Cys289Ter) c.915C>A (p.Cys305Ter) c.852C>A (p.Cys284Ter) n.993C>A | gnomAD v4 |
16 | g.20348534C>A | CA394984580 | UMOD | c.767G>T (p.Cys256Phe) c.866G>T (p.Cys289Phe) c.914G>T (p.Cys305Phe) c.851G>T (p.Cys284Phe) n.992G>T | |
16 | g.20348534C>G | CA394984597 | UMOD | c.767G>C (p.Cys256Ser) c.866G>C (p.Cys289Ser) c.914G>C (p.Cys305Ser) c.851G>C (p.Cys284Ser) n.992G>C | ClinVar |
16 | g.20348534C>T | CA394984602 | UMOD | c.767G>A (p.Cys256Tyr) c.866G>A (p.Cys289Tyr) c.914G>A (p.Cys305Tyr) c.851G>A (p.Cys284Tyr) n.992G>A | gnomAD v4 |
16 | g.20348535A>C | CA394984615 | UMOD | c.766T>G (p.Cys256Gly) c.865T>G (p.Cys289Gly) c.913T>G (p.Cys305Gly) c.850T>G (p.Cys284Gly) n.991T>G | |
16 | g.20348535A>G | CA394984606 | UMOD | c.766T>C (p.Cys256Arg) c.865T>C (p.Cys289Arg) c.913T>C (p.Cys305Arg) c.850T>C (p.Cys284Arg) n.991T>C | |
16 | g.20348535A>T | CA394984613 | UMOD | c.766T>A (p.Cys256Ser) c.865T>A (p.Cys289Ser) c.913T>A (p.Cys305Ser) c.850T>A (p.Cys284Ser) n.991T>A | |
16 | g.20348536G>A | CA494097131 | UMOD | c.765C>T (p.Cys255=) c.864C>T (p.Cys288=) c.912C>T (p.Cys304=) c.849C>T (p.Cys283=) n.990C>T | |
16 | g.20348536G>C | CA394984619 | UMOD | c.765C>G (p.Cys255Trp) c.864C>G (p.Cys288Trp) c.912C>G (p.Cys304Trp) c.849C>G (p.Cys283Trp) n.990C>G | |
16 | g.20348536G= | CA2211942046 | UMOD | c.765C= (p.Cys255=) c.864C= (p.Cys288=) c.912C= (p.Cys304=) c.849C= (p.Cys283=) n.990C= | |
16 | g.20348536G>T | CA394984621 | UMOD | c.765C>A (p.Cys255Ter) c.864C>A (p.Cys288Ter) c.912C>A (p.Cys304Ter) c.849C>A (p.Cys283Ter) n.990C>A | dbSNP gnomAD v4 |
16 | g.20348537C>A | CA394984622 | UMOD | c.764G>T (p.Cys255Phe) c.863G>T (p.Cys288Phe) c.911G>T (p.Cys304Phe) c.848G>T (p.Cys283Phe) n.989G>T | |
16 | g.20348537C= | CA2211942050 | UMOD | c.764G= (p.Cys255=) c.863G= (p.Cys288=) c.911G= (p.Cys304=) c.848G= (p.Cys283=) n.989G= | |
16 | g.20348537C>G | CA394984623 | UMOD | c.764G>C (p.Cys255Ser) c.863G>C (p.Cys288Ser) c.911G>C (p.Cys304Ser) c.848G>C (p.Cys283Ser) n.989G>C | |
16 | g.20348537C>T | CA256250 | UMOD | c.764G>A (p.Cys255Tyr) c.863G>A (p.Cys288Tyr) c.911G>A (p.Cys304Tyr) c.848G>A (p.Cys283Tyr) n.989G>A | ClinVar dbSNP gnomAD v4 |
16 | g.20348538A>C | CA394984624 | UMOD | c.763T>G (p.Cys255Gly) c.862T>G (p.Cys288Gly) c.910T>G (p.Cys304Gly) c.847T>G (p.Cys283Gly) n.988T>G | |
16 | g.20348538A>G | CA394984627 | UMOD | c.763T>C (p.Cys255Arg) c.862T>C (p.Cys288Arg) c.910T>C (p.Cys304Arg) c.847T>C (p.Cys283Arg) n.988T>C | |
16 | g.20348538A>T | CA394984625 | UMOD | c.763T>A (p.Cys255Ser) c.862T>A (p.Cys288Ser) c.910T>A (p.Cys304Ser) c.847T>A (p.Cys283Ser) n.988T>A | |
16 | g.20348539G>A | CA494097135 | UMOD | c.762C>T (p.His254=) c.861C>T (p.His287=) c.909C>T (p.His303=) c.846C>T (p.His282=) n.987C>T | |
16 | g.20348539G>C | CA394984631 | UMOD | c.762C>G (p.His254Gln) c.861C>G (p.His287Gln) c.909C>G (p.His303Gln) c.846C>G (p.His282Gln) n.987C>G | |
16 | g.20348539G>T | CA394984635 | UMOD | c.762C>A (p.His254Gln) c.861C>A (p.His287Gln) c.909C>A (p.His303Gln) c.846C>A (p.His282Gln) n.987C>A | gnomAD v4 |
16 | g.20348540T>A | CA394984637 | UMOD | c.761A>T (p.His254Leu) c.860A>T (p.His287Leu) c.908A>T (p.His303Leu) c.845A>T (p.His282Leu) n.986A>T | |
16 | g.20348540T>C | CA394984646 | UMOD | c.761A>G (p.His254Arg) c.860A>G (p.His287Arg) c.908A>G (p.His303Arg) c.845A>G (p.His282Arg) n.986A>G | |
16 | g.20348540T>G | CA394984650 | UMOD | c.761A>C (p.His254Pro) c.860A>C (p.His287Pro) c.908A>C (p.His303Pro) c.845A>C (p.His282Pro) n.986A>C | |
16 | g.20348541G>A | CA394984654 | UMOD | c.760C>T (p.His254Tyr) c.859C>T (p.His287Tyr) c.907C>T (p.His303Tyr) c.844C>T (p.His282Tyr) n.985C>T | gnomAD v4 |
16 | g.20348541G>C | CA394984656 | UMOD | c.760C>G (p.His254Asp) c.859C>G (p.His287Asp) c.907C>G (p.His303Asp) c.844C>G (p.His282Asp) n.985C>G | |
16 | g.20348541G>T | CA394984668 | UMOD | c.760C>A (p.His254Asn) c.859C>A (p.His287Asn) c.907C>A (p.His303Asn) c.844C>A (p.His282Asn) n.985C>A | gnomAD v4 |
16 | g.20348542G>A | CA494097139 | UMOD | c.759C>T (p.Gly253=) c.858C>T (p.Gly286=) c.906C>T (p.Gly302=) c.843C>T (p.Gly281=) n.984C>T | dbSNP |
16 | g.20348542G>C | CA494097140 | UMOD | c.759C>G (p.Gly253=) c.858C>G (p.Gly286=) c.906C>G (p.Gly302=) c.843C>G (p.Gly281=) n.984C>G | |
16 | g.20348542G= | CA2211942058 | UMOD | c.759C= (p.Gly253=) c.858C= (p.Gly286=) c.906C= (p.Gly302=) c.843C= (p.Gly281=) n.984C= | |
16 | g.20348542G>T | CA494097141 | UMOD | c.759C>A (p.Gly253=) c.858C>A (p.Gly286=) c.906C>A (p.Gly302=) c.843C>A (p.Gly281=) n.984C>A | gnomAD v4 |
16 | g.20348543C>A | CA394984673 | UMOD | c.758G>T (p.Gly253Val) c.857G>T (p.Gly286Val) c.905G>T (p.Gly302Val) c.842G>T (p.Gly281Val) n.983G>T | |
16 | g.20348543C= | CA2211942066 | UMOD | c.758G= (p.Gly253=) c.857G= (p.Gly286=) c.905G= (p.Gly302=) c.842G= (p.Gly281=) n.983G= | |
16 | g.20348543C>G | CA394984677 | UMOD | c.758G>C (p.Gly253Ala) c.857G>C (p.Gly286Ala) c.905G>C (p.Gly302Ala) c.842G>C (p.Gly281Ala) n.983G>C | |
16 | g.20348543C>T | CA7939411 | UMOD | c.758G>A (p.Gly253Asp) c.857G>A (p.Gly286Asp) c.905G>A (p.Gly302Asp) c.842G>A (p.Gly281Asp) n.983G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348544C>A | CA394984685 | UMOD | c.757G>T (p.Gly253Cys) c.856G>T (p.Gly286Cys) c.904G>T (p.Gly302Cys) c.841G>T (p.Gly281Cys) n.982G>T | |
16 | g.20348544C= | CA2211942072 | UMOD | c.757G= (p.Gly253=) c.856G= (p.Gly286=) c.904G= (p.Gly302=) c.841G= (p.Gly281=) n.982G= | |
16 | g.20348544C>G | CA394984686 | UMOD | c.757G>C (p.Gly253Arg) c.856G>C (p.Gly286Arg) c.904G>C (p.Gly302Arg) c.841G>C (p.Gly281Arg) n.982G>C | |
16 | g.20348544C>T | CA394984682 | UMOD | c.757G>A (p.Gly253Ser) c.856G>A (p.Gly286Ser) c.904G>A (p.Gly302Ser) c.841G>A (p.Gly281Ser) n.982G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348545G>A | CA494097146 | UMOD | c.756C>T (p.Ser252=) c.855C>T (p.Ser285=) c.903C>T (p.Ser301=) c.840C>T (p.Ser280=) n.981C>T | gnomAD v4 |
16 | g.20348545G>C | CA394984690 | UMOD | c.756C>G (p.Ser252Arg) c.855C>G (p.Ser285Arg) c.903C>G (p.Ser301Arg) c.840C>G (p.Ser280Arg) n.981C>G | |
16 | g.20348545G>T | CA394984688 | UMOD | c.756C>A (p.Ser252Arg) c.855C>A (p.Ser285Arg) c.903C>A (p.Ser301Arg) c.840C>A (p.Ser280Arg) n.981C>A | gnomAD v4 |
16 | g.20348546C>A | CA394984693 | UMOD | c.755G>T (p.Ser252Ile) c.854G>T (p.Ser285Ile) c.902G>T (p.Ser301Ile) c.839G>T (p.Ser280Ile) n.980G>T | |
16 | g.20348546C>G | CA394984696 | UMOD | c.755G>C (p.Ser252Thr) c.854G>C (p.Ser285Thr) c.902G>C (p.Ser301Thr) c.839G>C (p.Ser280Thr) n.980G>C | |
16 | g.20348546C>T | CA394984697 | UMOD | c.755G>A (p.Ser252Asn) c.854G>A (p.Ser285Asn) c.902G>A (p.Ser301Asn) c.839G>A (p.Ser280Asn) n.980G>A | |
16 | g.20348547T>A | CA394984703 | UMOD | c.754A>T (p.Ser252Cys) c.853A>T (p.Ser285Cys) c.901A>T (p.Ser301Cys) c.838A>T (p.Ser280Cys) n.979A>T | |
16 | g.20348547T>C | CA394984704 | UMOD | c.754A>G (p.Ser252Gly) c.853A>G (p.Ser285Gly) c.901A>G (p.Ser301Gly) c.838A>G (p.Ser280Gly) n.979A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348547T>G | CA394984708 | UMOD | c.754A>C (p.Ser252Arg) c.853A>C (p.Ser285Arg) c.901A>C (p.Ser301Arg) c.838A>C (p.Ser280Arg) n.979A>C | |
16 | g.20348547T= | CA2211942075 | UMOD | c.754A= (p.Ser252=) c.853A= (p.Ser285=) c.901A= (p.Ser301=) c.838A= (p.Ser280=) n.979A= | |
16 | g.20348548C>A | CA394984712 | UMOD | c.753G>T (p.Trp251Cys) c.852G>T (p.Trp284Cys) c.900G>T (p.Trp300Cys) c.837G>T (p.Trp279Cys) n.978G>T | gnomAD v4 |
16 | g.20348548C= | CA2211942082 | UMOD | c.753G= (p.Trp251=) c.852G= (p.Trp284=) c.900G= (p.Trp300=) c.837G= (p.Trp279=) n.978G= | |
16 | g.20348548C>G | CA394984714 | UMOD | c.753G>C (p.Trp251Cys) c.852G>C (p.Trp284Cys) c.900G>C (p.Trp300Cys) c.837G>C (p.Trp279Cys) n.978G>C | |
16 | g.20348548C>T | CA394984717 | UMOD | c.753G>A (p.Trp251Ter) c.852G>A (p.Trp284Ter) c.900G>A (p.Trp300Ter) c.837G>A (p.Trp279Ter) n.978G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348548_20348549insAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTT | CA621658550 | UMOD | c.752_753insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp251Ter) c.851_852insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp284Ter) c.899_900insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp300Ter) c.836_837insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT (p.Trp279Ter) n.977_978insAAAAGAAGGTTACTAAATTTCAGCAGTTGTGTAATACT | dbSNP gnomAD v2 |
16 | g.20348549C>A | CA394984725 | UMOD | c.752G>T (p.Trp251Leu) c.851G>T (p.Trp284Leu) c.899G>T (p.Trp300Leu) c.836G>T (p.Trp279Leu) n.977G>T | gnomAD v4 |
16 | g.20348549C>G | CA394984727 | UMOD | c.752G>C (p.Trp251Ser) c.851G>C (p.Trp284Ser) c.899G>C (p.Trp300Ser) c.836G>C (p.Trp279Ser) n.977G>C | |
16 | g.20348549C>T | CA394984732 | UMOD | c.752G>A (p.Trp251Ter) c.851G>A (p.Trp284Ter) c.899G>A (p.Trp300Ter) c.836G>A (p.Trp279Ter) n.977G>A | gnomAD v4 |
16 | g.20348550A>C | CA394984739 | UMOD | c.751T>G (p.Trp251Gly) c.850T>G (p.Trp284Gly) c.898T>G (p.Trp300Gly) c.835T>G (p.Trp279Gly) n.976T>G | |
16 | g.20348550A>G | CA394984745 | UMOD | c.751T>C (p.Trp251Arg) c.850T>C (p.Trp284Arg) c.898T>C (p.Trp300Arg) c.835T>C (p.Trp279Arg) n.976T>C | |
16 | g.20348550A>T | CA394984742 | UMOD | c.751T>A (p.Trp251Arg) c.850T>A (p.Trp284Arg) c.898T>A (p.Trp300Arg) c.835T>A (p.Trp279Arg) n.976T>A | |
16 | g.20348551G>A | CA494097153 | UMOD | c.750C>T (p.His250=) c.849C>T (p.His283=) c.897C>T (p.His299=) c.834C>T (p.His278=) n.975C>T | gnomAD v4 |
16 | g.20348551G>C | CA394984752 | UMOD | c.750C>G (p.His250Gln) c.849C>G (p.His283Gln) c.897C>G (p.His299Gln) c.834C>G (p.His278Gln) n.975C>G | |
16 | g.20348551G= | CA2211942090 | UMOD | c.750C= (p.His250=) c.849C= (p.His283=) c.897C= (p.His299=) c.834C= (p.His278=) n.975C= | |
16 | g.20348551G>T | CA394984753 | UMOD | c.750C>A (p.His250Gln) c.849C>A (p.His283Gln) c.897C>A (p.His299Gln) c.834C>A (p.His278Gln) n.975C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348552T>A | CA394984755 | UMOD | c.749A>T (p.His250Leu) c.848A>T (p.His283Leu) c.896A>T (p.His299Leu) c.833A>T (p.His278Leu) n.974A>T | |
16 | g.20348552T>C | CA394984757 | UMOD | c.749A>G (p.His250Arg) c.848A>G (p.His283Arg) c.896A>G (p.His299Arg) c.833A>G (p.His278Arg) n.974A>G | |
16 | g.20348552T>G | CA394984769 | UMOD | c.749A>C (p.His250Pro) c.848A>C (p.His283Pro) c.896A>C (p.His299Pro) c.833A>C (p.His278Pro) n.974A>C | |
16 | g.20348553G>A | CA394984773 | UMOD | c.748C>T (p.His250Tyr) c.847C>T (p.His283Tyr) c.895C>T (p.His299Tyr) c.832C>T (p.His278Tyr) n.973C>T | |
16 | g.20348553G>C | CA394984775 | UMOD | c.748C>G (p.His250Asp) c.847C>G (p.His283Asp) c.895C>G (p.His299Asp) c.832C>G (p.His278Asp) n.973C>G | |
16 | g.20348553G>T | CA394984779 | UMOD | c.748C>A (p.His250Asn) c.847C>A (p.His283Asn) c.895C>A (p.His299Asn) c.832C>A (p.His278Asn) n.973C>A | gnomAD v4 |
16 | g.20348554C>A | CA494097156 | UMOD | c.747G>T (p.Ala249=) c.846G>T (p.Ala282=) c.894G>T (p.Ala298=) c.831G>T (p.Ala277=) n.972G>T | dbSNP gnomAD v4 |
16 | g.20348554C= | CA2211942094 | UMOD | c.747G= (p.Ala249=) c.846G= (p.Ala282=) c.894G= (p.Ala298=) c.831G= (p.Ala277=) n.972G= | |
16 | g.20348554C>G | CA494097157 | UMOD | c.747G>C (p.Ala249=) c.846G>C (p.Ala282=) c.894G>C (p.Ala298=) c.831G>C (p.Ala277=) n.972G>C | |
16 | g.20348554C>T | CA494097158 | UMOD | c.747G>A (p.Ala249=) c.846G>A (p.Ala282=) c.894G>A (p.Ala298=) c.831G>A (p.Ala277=) n.972G>A | gnomAD v4 COSMIC COSMIC |
16 | g.20348555G>A | CA7939412 | UMOD | c.746C>T (p.Ala249Val) c.845C>T (p.Ala282Val) c.893C>T (p.Ala298Val) c.830C>T (p.Ala277Val) n.971C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.20348555G>C | CA394984782 | UMOD | c.746C>G (p.Ala249Gly) c.845C>G (p.Ala282Gly) c.893C>G (p.Ala298Gly) c.830C>G (p.Ala277Gly) n.971C>G | |
16 | g.20348555G= | CA2211942099 | UMOD | c.746C= (p.Ala249=) c.845C= (p.Ala282=) c.893C= (p.Ala298=) c.830C= (p.Ala277=) n.971C= | |
16 | g.20348555G>T | CA394984784 | UMOD | c.746C>A (p.Ala249Glu) c.845C>A (p.Ala282Glu) c.893C>A (p.Ala298Glu) c.830C>A (p.Ala277Glu) n.971C>A | gnomAD v4 |
16 | g.20348556C>A | CA394984789 | UMOD | c.745G>T (p.Ala249Ser) c.844G>T (p.Ala282Ser) c.892G>T (p.Ala298Ser) c.829G>T (p.Ala277Ser) n.970G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348556C= | CA2211942103 | UMOD | c.745G= (p.Ala249=) c.844G= (p.Ala282=) c.892G= (p.Ala298=) c.829G= (p.Ala277=) n.970G= | |
16 | g.20348556C>G | CA394984794 | UMOD | c.745G>C (p.Ala249Pro) c.844G>C (p.Ala282Pro) c.892G>C (p.Ala298Pro) c.829G>C (p.Ala277Pro) n.970G>C | |
16 | g.20348556C>T | CA394984787 | UMOD | c.745G>A (p.Ala249Thr) c.844G>A (p.Ala282Thr) c.892G>A (p.Ala298Thr) c.829G>A (p.Ala277Thr) n.970G>A | gnomAD v4 |
16 | g.20348557G>A | CA494097161 | UMOD | c.744C>T (p.Cys248=) c.843C>T (p.Cys281=) c.891C>T (p.Cys297=) c.828C>T (p.Cys276=) n.969C>T | dbSNP gnomAD v4 |
16 | g.20348557G>C | CA10605900 | UMOD | c.744C>G (p.Cys248Trp) c.843C>G (p.Cys281Trp) c.891C>G (p.Cys297Trp) c.828C>G (p.Cys276Trp) n.969C>G | ClinVar dbSNP |
16 | g.20348557G= | CA2211942116 | UMOD | c.744C= (p.Cys248=) c.843C= (p.Cys281=) c.891C= (p.Cys297=) c.828C= (p.Cys276=) n.969C= | |
16 | g.20348557G>T | CA394984801 | UMOD | c.744C>A (p.Cys248Ter) c.843C>A (p.Cys281Ter) c.891C>A (p.Cys297Ter) c.828C>A (p.Cys276Ter) n.969C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348558C>A | CA394984803 | UMOD | c.743G>T (p.Cys248Phe) c.842G>T (p.Cys281Phe) c.890G>T (p.Cys297Phe) c.827G>T (p.Cys276Phe) n.968G>T | gnomAD v4 |
16 | g.20348558C= | CA2211942131 | UMOD | c.743G= (p.Cys248=) c.842G= (p.Cys281=) c.890G= (p.Cys297=) c.827G= (p.Cys276=) n.968G= | |
16 | g.20348558C>G | CA264233 | UMOD | c.743G>C (p.Cys248Ser) c.842G>C (p.Cys281Ser) c.890G>C (p.Cys297Ser) c.827G>C (p.Cys276Ser) n.968G>C | ClinVar dbSNP |
16 | g.20348558C>T | CA394984809 | UMOD | c.743G>A (p.Cys248Tyr) c.842G>A (p.Cys281Tyr) c.890G>A (p.Cys297Tyr) c.827G>A (p.Cys276Tyr) n.968G>A | gnomAD v4 |
16 | g.20348559A= | CA2211942136 | UMOD | c.742T= (p.Cys248=) c.841T= (p.Cys281=) c.889T= (p.Cys297=) c.826T= (p.Cys276=) n.967T= | |
16 | g.20348559A>C | CA394984810 | UMOD | c.742T>G (p.Cys248Gly) c.841T>G (p.Cys281Gly) c.889T>G (p.Cys297Gly) c.826T>G (p.Cys276Gly) n.967T>G | |
16 | g.20348559A>G | CA394984811 | UMOD | c.742T>C (p.Cys248Arg) c.841T>C (p.Cys281Arg) c.889T>C (p.Cys297Arg) c.826T>C (p.Cys276Arg) n.967T>C | ClinVar dbSNP gnomAD v4 |
16 | g.20348559A>T | CA394984812 | UMOD | c.742T>A (p.Cys248Ser) c.841T>A (p.Cys281Ser) c.889T>A (p.Cys297Ser) c.826T>A (p.Cys276Ser) n.967T>A | |
16 | g.20348560G>A | CA494097164 | UMOD | c.741C>T (p.Ala247=) c.840C>T (p.Ala280=) c.888C>T (p.Ala296=) c.825C>T (p.Ala275=) n.966C>T | |
16 | g.20348560G>C | CA494097165 | UMOD | c.741C>G (p.Ala247=) c.840C>G (p.Ala280=) c.888C>G (p.Ala296=) c.825C>G (p.Ala275=) n.966C>G | ClinVar |
16 | g.20348560G>T | CA494097166 | UMOD | c.741C>A (p.Ala247=) c.840C>A (p.Ala280=) c.888C>A (p.Ala296=) c.825C>A (p.Ala275=) n.966C>A | gnomAD v4 |
16 | g.20348561G>A | CA394984813 | UMOD | c.740C>T (p.Ala247Val) c.839C>T (p.Ala280Val) c.887C>T (p.Ala296Val) c.824C>T (p.Ala275Val) n.965C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348561G>C | CA394984814 | UMOD | c.740C>G (p.Ala247Gly) c.839C>G (p.Ala280Gly) c.887C>G (p.Ala296Gly) c.824C>G (p.Ala275Gly) n.965C>G | |
16 | g.20348561G= | CA2211942139 | UMOD | c.740C= (p.Ala247=) c.839C= (p.Ala280=) c.887C= (p.Ala296=) c.824C= (p.Ala275=) n.965C= | |
16 | g.20348561G>T | CA394984815 | UMOD | c.740C>A (p.Ala247Asp) c.839C>A (p.Ala280Asp) c.887C>A (p.Ala296Asp) c.824C>A (p.Ala275Asp) n.965C>A | gnomAD v4 |
16 | g.20348562C>A | CA394984817 | UMOD | c.739G>T (p.Ala247Ser) c.838G>T (p.Ala280Ser) c.886G>T (p.Ala296Ser) c.823G>T (p.Ala275Ser) n.964G>T | gnomAD v4 |
16 | g.20348562C>G | CA394984820 | UMOD | c.739G>C (p.Ala247Pro) c.838G>C (p.Ala280Pro) c.886G>C (p.Ala296Pro) c.823G>C (p.Ala275Pro) n.964G>C | |
16 | g.20348562C>T | CA394984821 | UMOD | c.739G>A (p.Ala247Thr) c.838G>A (p.Ala280Thr) c.886G>A (p.Ala296Thr) c.823G>A (p.Ala275Thr) n.964G>A | gnomAD v4 |
16 | g.20348563C>A | CA394984828 | UMOD | c.738G>T (p.Lys246Asn) c.837G>T (p.Lys279Asn) c.885G>T (p.Lys295Asn) c.822G>T (p.Lys274Asn) n.963G>T | |
16 | g.20348563C>G | CA394984826 | UMOD | c.738G>C (p.Lys246Asn) c.837G>C (p.Lys279Asn) c.885G>C (p.Lys295Asn) c.822G>C (p.Lys274Asn) n.963G>C | |
16 | g.20348563C>T | CA494097174 | UMOD | c.738G>A (p.Lys246=) c.837G>A (p.Lys279=) c.885G>A (p.Lys295=) c.822G>A (p.Lys274=) n.963G>A | gnomAD v4 |
16 | g.20348564T>A | CA394984833 | UMOD | c.737A>T (p.Lys246Met) c.836A>T (p.Lys279Met) c.884A>T (p.Lys295Met) c.821A>T (p.Lys274Met) n.962A>T | |
16 | g.20348564T>C | CA394984837 | UMOD | c.737A>G (p.Lys246Arg) c.836A>G (p.Lys279Arg) c.884A>G (p.Lys295Arg) c.821A>G (p.Lys274Arg) n.962A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348564T>G | CA394984839 | UMOD | c.737A>C (p.Lys246Thr) c.836A>C (p.Lys279Thr) c.884A>C (p.Lys295Thr) c.821A>C (p.Lys274Thr) n.962A>C | |
16 | g.20348564T= | CA2211942142 | UMOD | c.737A= (p.Lys246=) c.836A= (p.Lys279=) c.884A= (p.Lys295=) c.821A= (p.Lys274=) n.962A= | |
16 | g.20348565T>A | CA394984841 | UMOD | c.736A>T (p.Lys246Ter) c.835A>T (p.Lys279Ter) c.883A>T (p.Lys295Ter) c.820A>T (p.Lys274Ter) n.961A>T | |
16 | g.20348565T>C | CA394984844 | UMOD | c.736A>G (p.Lys246Glu) c.835A>G (p.Lys279Glu) c.883A>G (p.Lys295Glu) c.820A>G (p.Lys274Glu) n.961A>G | gnomAD v4 |
16 | g.20348565T>G | CA394984846 | UMOD | c.736A>C (p.Lys246Gln) c.835A>C (p.Lys279Gln) c.883A>C (p.Lys295Gln) c.820A>C (p.Lys274Gln) n.961A>C | |
16 | g.20348568_20348579del | CA2580090849 | UMOD | c.725_736del (p.Ile242_Arg245del) c.824_835del (p.Ile275_Arg278del) c.872_883del (p.Ile291_Arg294del) c.809_820del (p.Ile270_Arg273del) n.950_961del | ClinVar |
16 | g.20348566G>A | CA494097180 | UMOD | c.735C>T (p.Arg245=) c.834C>T (p.Arg278=) c.882C>T (p.Arg294=) c.819C>T (p.Arg273=) n.960C>T | gnomAD v4 |
16 | g.20348566G>C | CA494097181 | UMOD | c.735C>G (p.Arg245=) c.834C>G (p.Arg278=) c.882C>G (p.Arg294=) c.819C>G (p.Arg273=) n.960C>G | |
16 | g.20348566G>T | CA494097183 | UMOD | c.735C>A (p.Arg245=) c.834C>A (p.Arg278=) c.882C>A (p.Arg294=) c.819C>A (p.Arg273=) n.960C>A | gnomAD v4 |
16 | g.20348567C>A | CA394984851 | UMOD | c.734G>T (p.Arg245Leu) c.833G>T (p.Arg278Leu) c.881G>T (p.Arg294Leu) c.818G>T (p.Arg273Leu) n.959G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348567C= | CA2211942146 | UMOD | c.734G= (p.Arg245=) c.833G= (p.Arg278=) c.881G= (p.Arg294=) c.818G= (p.Arg273=) n.959G= | |
16 | g.20348567C>G | CA394984849 | UMOD | c.734G>C (p.Arg245Pro) c.833G>C (p.Arg278Pro) c.881G>C (p.Arg294Pro) c.818G>C (p.Arg273Pro) n.959G>C | |
16 | g.20348567C>T | CA7939413 | UMOD | c.734G>A (p.Arg245His) c.833G>A (p.Arg278His) c.881G>A (p.Arg294His) c.818G>A (p.Arg273His) n.959G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348568G>A | CA394984855 | UMOD | c.733C>T (p.Arg245Cys) c.832C>T (p.Arg278Cys) c.880C>T (p.Arg294Cys) c.817C>T (p.Arg273Cys) n.958C>T | dbSNP gnomAD v2 |
16 | g.20348568G>C | CA394984866 | UMOD | c.733C>G (p.Arg245Gly) c.832C>G (p.Arg278Gly) c.880C>G (p.Arg294Gly) c.817C>G (p.Arg273Gly) n.958C>G | |
16 | g.20348568G= | CA2211942149 | UMOD | c.733C= (p.Arg245=) c.832C= (p.Arg278=) c.880C= (p.Arg294=) c.817C= (p.Arg273=) n.958C= | |
16 | g.20348568G>T | CA394984867 | UMOD | c.733C>A (p.Arg245Ser) c.832C>A (p.Arg278Ser) c.880C>A (p.Arg294Ser) c.817C>A (p.Arg273Ser) n.958C>A | gnomAD v4 |
16 | g.20348569G>A | CA494097186 | UMOD | c.732C>T (p.Ser244=) c.831C>T (p.Ser277=) c.879C>T (p.Ser293=) c.816C>T (p.Ser272=) n.957C>T | gnomAD v4 |
16 | g.20348569G>C | CA394984871 | UMOD | c.732C>G (p.Ser244Arg) c.831C>G (p.Ser277Arg) c.879C>G (p.Ser293Arg) c.816C>G (p.Ser272Arg) n.957C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348569G= | CA2211942152 | UMOD | c.732C= (p.Ser244=) c.831C= (p.Ser277=) c.879C= (p.Ser293=) c.816C= (p.Ser272=) n.957C= | |
16 | g.20348569G>T | CA394984873 | UMOD | c.732C>A (p.Ser244Arg) c.831C>A (p.Ser277Arg) c.879C>A (p.Ser293Arg) c.816C>A (p.Ser272Arg) n.957C>A | gnomAD v4 |
16 | g.20348570C>A | CA394984876 | UMOD | c.731G>T (p.Ser244Ile) c.830G>T (p.Ser277Ile) c.878G>T (p.Ser293Ile) c.815G>T (p.Ser272Ile) n.956G>T | gnomAD v4 |
16 | g.20348570C>G | CA394984875 | UMOD | c.731G>C (p.Ser244Thr) c.830G>C (p.Ser277Thr) c.878G>C (p.Ser293Thr) c.815G>C (p.Ser272Thr) n.956G>C | |
16 | g.20348570C>T | CA394984874 | UMOD | c.731G>A (p.Ser244Asn) c.830G>A (p.Ser277Asn) c.878G>A (p.Ser293Asn) c.815G>A (p.Ser272Asn) n.956G>A | gnomAD v4 |
16 | g.20348571T>A | CA394984877 | UMOD | c.730A>T (p.Ser244Cys) c.829A>T (p.Ser277Cys) c.877A>T (p.Ser293Cys) c.814A>T (p.Ser272Cys) n.955A>T | |
16 | g.20348571T>C | CA394984880 | UMOD | c.730A>G (p.Ser244Gly) c.829A>G (p.Ser277Gly) c.877A>G (p.Ser293Gly) c.814A>G (p.Ser272Gly) n.955A>G | |
16 | g.20348571T>G | CA394984878 | UMOD | c.730A>C (p.Ser244Arg) c.829A>C (p.Ser277Arg) c.877A>C (p.Ser293Arg) c.814A>C (p.Ser272Arg) n.955A>C | |
16 | g.20348572C>A | CA494097192 | UMOD | c.729G>T (p.Val243=) c.828G>T (p.Val276=) c.876G>T (p.Val292=) c.813G>T (p.Val271=) n.954G>T | gnomAD v4 |
16 | g.20348572C= | CA2211942156 | UMOD | c.729G= (p.Val243=) c.828G= (p.Val276=) c.876G= (p.Val292=) c.813G= (p.Val271=) n.954G= | |
16 | g.20348572C>G | CA494097190 | UMOD | c.729G>C (p.Val243=) c.828G>C (p.Val276=) c.876G>C (p.Val292=) c.813G>C (p.Val271=) n.954G>C | |
16 | g.20348572C>T | CA494097189 | UMOD | c.729G>A (p.Val243=) c.828G>A (p.Val276=) c.876G>A (p.Val292=) c.813G>A (p.Val271=) n.954G>A | dbSNP gnomAD v2 |
16 | g.20348573A>C | CA394984882 | UMOD | c.728T>G (p.Val243Gly) c.827T>G (p.Val276Gly) c.875T>G (p.Val292Gly) c.812T>G (p.Val271Gly) n.953T>G | |
16 | g.20348573A>G | CA394984886 | UMOD | c.728T>C (p.Val243Ala) c.827T>C (p.Val276Ala) c.875T>C (p.Val292Ala) c.812T>C (p.Val271Ala) n.953T>C | |
16 | g.20348573A>T | CA394984883 | UMOD | c.728T>A (p.Val243Glu) c.827T>A (p.Val276Glu) c.875T>A (p.Val292Glu) c.812T>A (p.Val271Glu) n.953T>A |