Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.20349046_20349047delinsGT | CA2211943436 | UMOD | c.254_255delinsAC (p.Asn85=) c.353_354delinsAC (p.Asn118=) c.401_402delinsAC (p.Asn134=) c.323_324delinsAC (p.Asn108=) c.416_417delinsAC (p.Asn139=) c.338_339delinsAC (p.Asn113=) n.479_480delinsAC | |
16 | g.20349047T>A | CA394986977 | UMOD | c.254A>T (p.Asn85Ile) c.353A>T (p.Asn118Ile) c.401A>T (p.Asn134Ile) c.323A>T (p.Asn108Ile) c.416A>T (p.Asn139Ile) c.338A>T (p.Asn113Ile) n.479A>T | |
16 | g.20349047T>C | CA16607268 | UMOD | c.254A>G (p.Asn85Ser) c.353A>G (p.Asn118Ser) c.401A>G (p.Asn134Ser) c.323A>G (p.Asn108Ser) c.416A>G (p.Asn139Ser) c.338A>G (p.Asn113Ser) n.479A>G | ClinVar dbSNP |
16 | g.20349047T>G | CA394986995 | UMOD | c.254A>C (p.Asn85Thr) c.353A>C (p.Asn118Thr) c.401A>C (p.Asn134Thr) c.323A>C (p.Asn108Thr) c.416A>C (p.Asn139Thr) c.338A>C (p.Asn113Thr) n.479A>C | |
16 | g.20349047T= | CA2211943446 | UMOD | c.254A= (p.Asn85=) c.353A= (p.Asn118=) c.401A= (p.Asn134=) c.323A= (p.Asn108=) c.416A= (p.Asn139=) c.338A= (p.Asn113=) n.479A= | |
16 | g.20349049del | CA975444843 | UMOD | c.254del (p.Asn85ThrfsTer?) c.353del (p.Asn118ThrfsTer?) c.401del (p.Asn134ThrfsTer?) c.323del (p.Asn108ThrfsTer?) c.416del (p.Asn139ThrfsTer?) c.338del (p.Asn113ThrfsTer?) n.479del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349048T>A | CA394987001 | UMOD | c.253A>T (p.Asn85Tyr) c.352A>T (p.Asn118Tyr) c.400A>T (p.Asn134Tyr) c.322A>T (p.Asn108Tyr) c.415A>T (p.Asn139Tyr) c.337A>T (p.Asn113Tyr) n.478A>T | |
16 | g.20349048T>C | CA394987013 | UMOD | c.253A>G (p.Asn85Asp) c.352A>G (p.Asn118Asp) c.400A>G (p.Asn134Asp) c.322A>G (p.Asn108Asp) c.415A>G (p.Asn139Asp) c.337A>G (p.Asn113Asp) n.478A>G | gnomAD v4 |
16 | g.20349048T>G | CA394986999 | UMOD | c.253A>C (p.Asn85His) c.352A>C (p.Asn118His) c.400A>C (p.Asn134His) c.322A>C (p.Asn108His) c.415A>C (p.Asn139His) c.337A>C (p.Asn113His) n.478A>C | |
16 | g.20349049T>A | CA494097143 | UMOD | c.252A>T (p.Val84=) c.351A>T (p.Val117=) c.399A>T (p.Val133=) c.321A>T (p.Val107=) c.414A>T (p.Val138=) c.336A>T (p.Val112=) n.477A>T | |
16 | g.20349049T>C | CA494097144 | UMOD | c.252A>G (p.Val84=) c.351A>G (p.Val117=) c.399A>G (p.Val133=) c.321A>G (p.Val107=) c.414A>G (p.Val138=) c.336A>G (p.Val112=) n.477A>G | |
16 | g.20349049T>G | CA494097145 | UMOD | c.252A>C (p.Val84=) c.351A>C (p.Val117=) c.399A>C (p.Val133=) c.321A>C (p.Val107=) c.414A>C (p.Val138=) c.336A>C (p.Val112=) n.477A>C | |
16 | g.20349050A>C | CA394987014 | UMOD | c.251T>G (p.Val84Gly) c.350T>G (p.Val117Gly) c.398T>G (p.Val133Gly) c.320T>G (p.Val107Gly) c.413T>G (p.Val138Gly) c.335T>G (p.Val112Gly) n.476T>G | |
16 | g.20349050A>G | CA394987015 | UMOD | c.251T>C (p.Val84Ala) c.350T>C (p.Val117Ala) c.398T>C (p.Val133Ala) c.320T>C (p.Val107Ala) c.413T>C (p.Val138Ala) c.335T>C (p.Val112Ala) n.476T>C | |
16 | g.20349050A>T | CA394987016 | UMOD | c.251T>A (p.Val84Glu) c.350T>A (p.Val117Glu) c.398T>A (p.Val133Glu) c.320T>A (p.Val107Glu) c.413T>A (p.Val138Glu) c.335T>A (p.Val112Glu) n.476T>A | |
16 | g.20349051C>A | CA394987018 | UMOD | c.250G>T (p.Val84Leu) c.349G>T (p.Val117Leu) c.397G>T (p.Val133Leu) c.319G>T (p.Val107Leu) c.412G>T (p.Val138Leu) c.334G>T (p.Val112Leu) n.475G>T | |
16 | g.20349051C= | CA2211943452 | UMOD | c.250G= (p.Val84=) c.349G= (p.Val117=) c.397G= (p.Val133=) c.319G= (p.Val107=) c.412G= (p.Val138=) c.334G= (p.Val112=) n.475G= | |
16 | g.20349051C>G | CA394987022 | UMOD | c.250G>C (p.Val84Leu) c.349G>C (p.Val117Leu) c.397G>C (p.Val133Leu) c.319G>C (p.Val107Leu) c.412G>C (p.Val138Leu) c.334G>C (p.Val112Leu) n.475G>C | |
16 | g.20349051C>T | CA7939475 | UMOD | c.250G>A (p.Val84Ile) c.349G>A (p.Val117Ile) c.397G>A (p.Val133Ile) c.319G>A (p.Val107Ile) c.412G>A (p.Val138Ile) c.334G>A (p.Val112Ile) n.475G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.20349052G>A | CA494097149 | UMOD | c.249C>T (p.Cys83=) c.348C>T (p.Cys116=) c.396C>T (p.Cys132=) c.318C>T (p.Cys106=) c.411C>T (p.Cys137=) c.333C>T (p.Cys111=) n.474C>T | dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.20349052G>C | CA394987043 | UMOD | c.249C>G (p.Cys83Trp) c.348C>G (p.Cys116Trp) c.396C>G (p.Cys132Trp) c.318C>G (p.Cys106Trp) c.411C>G (p.Cys137Trp) c.333C>G (p.Cys111Trp) n.474C>G | ClinVar dbSNP |
16 | g.20349052G= | CA2211943456 | UMOD | c.249C= (p.Cys83=) c.348C= (p.Cys116=) c.396C= (p.Cys132=) c.318C= (p.Cys106=) c.411C= (p.Cys137=) c.333C= (p.Cys111=) n.474C= | |
16 | g.20349052G>T | CA394987044 | UMOD | c.249C>A (p.Cys83Ter) c.348C>A (p.Cys116Ter) c.396C>A (p.Cys132Ter) c.318C>A (p.Cys106Ter) c.411C>A (p.Cys137Ter) c.333C>A (p.Cys111Ter) n.474C>A | gnomAD v4 |
16 | g.20349053C>A | CA394987045 | UMOD | c.248G>T (p.Cys83Phe) c.347G>T (p.Cys116Phe) c.395G>T (p.Cys132Phe) c.317G>T (p.Cys106Phe) c.410G>T (p.Cys137Phe) c.332G>T (p.Cys111Phe) n.473G>T | |
16 | g.20349053C>G | CA394987046 | UMOD | c.248G>C (p.Cys83Ser) c.347G>C (p.Cys116Ser) c.395G>C (p.Cys132Ser) c.317G>C (p.Cys106Ser) c.410G>C (p.Cys137Ser) c.332G>C (p.Cys111Ser) n.473G>C | |
16 | g.20349053C>T | CA394987050 | UMOD | c.248G>A (p.Cys83Tyr) c.347G>A (p.Cys116Tyr) c.395G>A (p.Cys132Tyr) c.317G>A (p.Cys106Tyr) c.410G>A (p.Cys137Tyr) c.332G>A (p.Cys111Tyr) n.473G>A | gnomAD v4 |
16 | g.20349054A= | CA2211943461 | UMOD | c.247T= (p.Cys83=) c.346T= (p.Cys116=) c.394T= (p.Cys132=) c.316T= (p.Cys106=) c.409T= (p.Cys137=) c.331T= (p.Cys111=) n.472T= | |
16 | g.20349054A>C | CA394987054 | UMOD | c.247T>G (p.Cys83Gly) c.346T>G (p.Cys116Gly) c.394T>G (p.Cys132Gly) c.316T>G (p.Cys106Gly) c.409T>G (p.Cys137Gly) c.331T>G (p.Cys111Gly) n.472T>G | |
16 | g.20349054A>G | CA394987063 | UMOD | c.247T>C (p.Cys83Arg) c.346T>C (p.Cys116Arg) c.394T>C (p.Cys132Arg) c.316T>C (p.Cys106Arg) c.409T>C (p.Cys137Arg) c.331T>C (p.Cys111Arg) n.472T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349054A>T | CA394987066 | UMOD | c.247T>A (p.Cys83Ser) c.346T>A (p.Cys116Ser) c.394T>A (p.Cys132Ser) c.316T>A (p.Cys106Ser) c.409T>A (p.Cys137Ser) c.331T>A (p.Cys111Ser) n.472T>A | ClinVar |
16 | g.20349055G>A | CA494097154 | UMOD | c.246C>T (p.Ser82=) c.345C>T (p.Ser115=) c.393C>T (p.Ser131=) c.315C>T (p.Ser105=) c.408C>T (p.Ser136=) c.330C>T (p.Ser110=) n.471C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349055G>C | CA394987067 | UMOD | c.246C>G (p.Ser82Arg) c.345C>G (p.Ser115Arg) c.393C>G (p.Ser131Arg) c.315C>G (p.Ser105Arg) c.408C>G (p.Ser136Arg) c.330C>G (p.Ser110Arg) n.471C>G | |
16 | g.20349055G= | CA2211943465 | UMOD | c.246C= (p.Ser82=) c.345C= (p.Ser115=) c.393C= (p.Ser131=) c.315C= (p.Ser105=) c.408C= (p.Ser136=) c.330C= (p.Ser110=) n.471C= | |
16 | g.20349055G>T | CA394987068 | UMOD | c.246C>A (p.Ser82Arg) c.345C>A (p.Ser115Arg) c.393C>A (p.Ser131Arg) c.315C>A (p.Ser105Arg) c.408C>A (p.Ser136Arg) c.330C>A (p.Ser110Arg) n.471C>A | |
16 | g.20349056C>A | CA394987069 | UMOD | c.245G>T (p.Ser82Ile) c.344G>T (p.Ser115Ile) c.392G>T (p.Ser131Ile) c.314G>T (p.Ser105Ile) c.407G>T (p.Ser136Ile) c.329G>T (p.Ser110Ile) n.470G>T | |
16 | g.20349056C>G | CA394987070 | UMOD | c.245G>C (p.Ser82Thr) c.344G>C (p.Ser115Thr) c.392G>C (p.Ser131Thr) c.314G>C (p.Ser105Thr) c.407G>C (p.Ser136Thr) c.329G>C (p.Ser110Thr) n.470G>C | |
16 | g.20349056C>T | CA394987072 | UMOD | c.245G>A (p.Ser82Asn) c.344G>A (p.Ser115Asn) c.392G>A (p.Ser131Asn) c.314G>A (p.Ser105Asn) c.407G>A (p.Ser136Asn) c.329G>A (p.Ser110Asn) n.470G>A | gnomAD v4 |
16 | g.20349057T>A | CA394987075 | UMOD | c.244A>T (p.Ser82Cys) c.343A>T (p.Ser115Cys) c.391A>T (p.Ser131Cys) c.313A>T (p.Ser105Cys) c.406A>T (p.Ser136Cys) c.328A>T (p.Ser110Cys) n.469A>T | |
16 | g.20349057T>C | CA394987078 | UMOD | c.244A>G (p.Ser82Gly) c.343A>G (p.Ser115Gly) c.391A>G (p.Ser131Gly) c.313A>G (p.Ser105Gly) c.406A>G (p.Ser136Gly) c.328A>G (p.Ser110Gly) n.469A>G | |
16 | g.20349057T>G | CA394987083 | UMOD | c.244A>C (p.Ser82Arg) c.343A>C (p.Ser115Arg) c.391A>C (p.Ser131Arg) c.313A>C (p.Ser105Arg) c.406A>C (p.Ser136Arg) c.328A>C (p.Ser110Arg) n.469A>C | |
16 | g.20349058G>A | CA494097159 | UMOD | c.243C>T (p.Ser81=) c.342C>T (p.Ser114=) c.390C>T (p.Ser130=) c.312C>T (p.Ser104=) c.405C>T (p.Ser135=) c.327C>T (p.Ser109=) n.468C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349058G>C | CA394987092 | UMOD | c.243C>G (p.Ser81Arg) c.342C>G (p.Ser114Arg) c.390C>G (p.Ser130Arg) c.312C>G (p.Ser104Arg) c.405C>G (p.Ser135Arg) c.327C>G (p.Ser109Arg) n.468C>G | |
16 | g.20349058G= | CA2211943471 | UMOD | c.243C= (p.Ser81=) c.342C= (p.Ser114=) c.390C= (p.Ser130=) c.312C= (p.Ser104=) c.405C= (p.Ser135=) c.327C= (p.Ser109=) n.468C= | |
16 | g.20349058G>T | CA394987095 | UMOD | c.243C>A (p.Ser81Arg) c.342C>A (p.Ser114Arg) c.390C>A (p.Ser130Arg) c.312C>A (p.Ser104Arg) c.405C>A (p.Ser135Arg) c.327C>A (p.Ser109Arg) n.468C>A | |
16 | g.20349059C>A | CA394987101 | UMOD | c.242G>T (p.Ser81Ile) c.341G>T (p.Ser114Ile) c.389G>T (p.Ser130Ile) c.311G>T (p.Ser104Ile) c.404G>T (p.Ser135Ile) c.326G>T (p.Ser109Ile) n.467G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349059C= | CA2211943473 | UMOD | c.242G= (p.Ser81=) c.341G= (p.Ser114=) c.389G= (p.Ser130=) c.311G= (p.Ser104=) c.404G= (p.Ser135=) c.326G= (p.Ser109=) n.467G= | |
16 | g.20349059C>G | CA394987103 | UMOD | c.242G>C (p.Ser81Thr) c.341G>C (p.Ser114Thr) c.389G>C (p.Ser130Thr) c.311G>C (p.Ser104Thr) c.404G>C (p.Ser135Thr) c.326G>C (p.Ser109Thr) n.467G>C | |
16 | g.20349059C>T | CA394987106 | UMOD | c.242G>A (p.Ser81Asn) c.341G>A (p.Ser114Asn) c.389G>A (p.Ser130Asn) c.311G>A (p.Ser104Asn) c.404G>A (p.Ser135Asn) c.326G>A (p.Ser109Asn) n.467G>A | |
16 | g.20349060T>A | CA394987108 | UMOD | c.241A>T (p.Ser81Cys) c.340A>T (p.Ser114Cys) c.388A>T (p.Ser130Cys) c.310A>T (p.Ser104Cys) c.403A>T (p.Ser135Cys) c.325A>T (p.Ser109Cys) n.466A>T | |
16 | g.20349060T>C | CA394987114 | UMOD | c.241A>G (p.Ser81Gly) c.340A>G (p.Ser114Gly) c.388A>G (p.Ser130Gly) c.310A>G (p.Ser104Gly) c.403A>G (p.Ser135Gly) c.325A>G (p.Ser109Gly) n.466A>G | |
16 | g.20349060T>G | CA394987121 | UMOD | c.241A>C (p.Ser81Arg) c.340A>C (p.Ser114Arg) c.388A>C (p.Ser130Arg) c.310A>C (p.Ser104Arg) c.403A>C (p.Ser135Arg) c.325A>C (p.Ser109Arg) n.466A>C | |
16 | g.20349061G>A | CA494097162 | UMOD | c.240C>T (p.Asn80=) c.339C>T (p.Asn113=) c.387C>T (p.Asn129=) c.309C>T (p.Asn103=) c.402C>T (p.Asn134=) c.324C>T (p.Asn108=) n.465C>T | |
16 | g.20349061G>C | CA394987127 | UMOD | c.240C>G (p.Asn80Lys) c.339C>G (p.Asn113Lys) c.387C>G (p.Asn129Lys) c.309C>G (p.Asn103Lys) c.402C>G (p.Asn134Lys) c.324C>G (p.Asn108Lys) n.465C>G | |
16 | g.20349061G>T | CA394987128 | UMOD | c.240C>A (p.Asn80Lys) c.339C>A (p.Asn113Lys) c.387C>A (p.Asn129Lys) c.309C>A (p.Asn103Lys) c.402C>A (p.Asn134Lys) c.324C>A (p.Asn108Lys) n.465C>A | |
16 | g.20349062T>A | CA394987131 | UMOD | c.239A>T (p.Asn80Ile) c.338A>T (p.Asn113Ile) c.386A>T (p.Asn129Ile) c.308A>T (p.Asn103Ile) c.401A>T (p.Asn134Ile) c.323A>T (p.Asn108Ile) n.464A>T | |
16 | g.20349062T>C | CA394987139 | UMOD | c.239A>G (p.Asn80Ser) c.338A>G (p.Asn113Ser) c.386A>G (p.Asn129Ser) c.308A>G (p.Asn103Ser) c.401A>G (p.Asn134Ser) c.323A>G (p.Asn108Ser) n.464A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349062T>G | CA394987138 | UMOD | c.239A>C (p.Asn80Thr) c.338A>C (p.Asn113Thr) c.386A>C (p.Asn129Thr) c.308A>C (p.Asn103Thr) c.401A>C (p.Asn134Thr) c.323A>C (p.Asn108Thr) n.464A>C | |
16 | g.20349062T= | CA2211943477 | UMOD | c.239A= (p.Asn80=) c.338A= (p.Asn113=) c.386A= (p.Asn129=) c.308A= (p.Asn103=) c.401A= (p.Asn134=) c.323A= (p.Asn108=) n.464A= | |
16 | g.20349063T>A | CA394987140 | UMOD | c.238A>T (p.Asn80Tyr) c.337A>T (p.Asn113Tyr) c.385A>T (p.Asn129Tyr) c.307A>T (p.Asn103Tyr) c.400A>T (p.Asn134Tyr) c.322A>T (p.Asn108Tyr) n.463A>T | |
16 | g.20349063T>C | CA394987143 | UMOD | c.238A>G (p.Asn80Asp) c.337A>G (p.Asn113Asp) c.385A>G (p.Asn129Asp) c.307A>G (p.Asn103Asp) c.400A>G (p.Asn134Asp) c.322A>G (p.Asn108Asp) n.463A>G | |
16 | g.20349063T>G | CA394987141 | UMOD | c.238A>C (p.Asn80His) c.337A>C (p.Asn113His) c.385A>C (p.Asn129His) c.307A>C (p.Asn103His) c.400A>C (p.Asn134His) c.322A>C (p.Asn108His) n.463A>C | |
16 | g.20349064G>A | CA494097169 | UMOD | c.237C>T (p.Ala79=) c.336C>T (p.Ala112=) c.384C>T (p.Ala128=) c.306C>T (p.Ala102=) c.399C>T (p.Ala133=) c.321C>T (p.Ala107=) n.462C>T | gnomAD v4 |
16 | g.20349064G>C | CA494097168 | UMOD | c.237C>G (p.Ala79=) c.336C>G (p.Ala112=) c.384C>G (p.Ala128=) c.306C>G (p.Ala102=) c.399C>G (p.Ala133=) c.321C>G (p.Ala107=) n.462C>G | |
16 | g.20349064G>T | CA494097167 | UMOD | c.237C>A (p.Ala79=) c.336C>A (p.Ala112=) c.384C>A (p.Ala128=) c.306C>A (p.Ala102=) c.399C>A (p.Ala133=) c.321C>A (p.Ala107=) n.462C>A | |
16 | g.20349065G>A | CA394987146 | UMOD | c.236C>T (p.Ala79Val) c.335C>T (p.Ala112Val) c.383C>T (p.Ala128Val) c.305C>T (p.Ala102Val) c.398C>T (p.Ala133Val) c.320C>T (p.Ala107Val) n.461C>T | |
16 | g.20349065G>C | CA394987148 | UMOD | c.236C>G (p.Ala79Gly) c.335C>G (p.Ala112Gly) c.383C>G (p.Ala128Gly) c.305C>G (p.Ala102Gly) c.398C>G (p.Ala133Gly) c.320C>G (p.Ala107Gly) n.461C>G | |
16 | g.20349065G>T | CA394987155 | UMOD | c.236C>A (p.Ala79Asp) c.335C>A (p.Ala112Asp) c.383C>A (p.Ala128Asp) c.305C>A (p.Ala102Asp) c.398C>A (p.Ala133Asp) c.320C>A (p.Ala107Asp) n.461C>A | |
16 | g.20349066C>A | CA394987159 | UMOD | c.235G>T (p.Ala79Ser) c.334G>T (p.Ala112Ser) c.382G>T (p.Ala128Ser) c.304G>T (p.Ala102Ser) c.397G>T (p.Ala133Ser) c.319G>T (p.Ala107Ser) n.460G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349066C= | CA2211943479 | UMOD | c.235G= (p.Ala79=) c.334G= (p.Ala112=) c.382G= (p.Ala128=) c.304G= (p.Ala102=) c.397G= (p.Ala133=) c.319G= (p.Ala107=) n.460G= | |
16 | g.20349066C>G | CA394987160 | UMOD | c.235G>C (p.Ala79Pro) c.334G>C (p.Ala112Pro) c.382G>C (p.Ala128Pro) c.304G>C (p.Ala102Pro) c.397G>C (p.Ala133Pro) c.319G>C (p.Ala107Pro) n.460G>C | |
16 | g.20349066C>T | CA279300225 | UMOD | c.235G>A (p.Ala79Thr) c.334G>A (p.Ala112Thr) c.382G>A (p.Ala128Thr) c.304G>A (p.Ala102Thr) c.397G>A (p.Ala133Thr) c.319G>A (p.Ala107Thr) n.460G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349067G>A | CA494097175 | UMOD | c.234C>T (p.Ser78=) c.333C>T (p.Ser111=) c.381C>T (p.Ser127=) c.303C>T (p.Ser101=) c.396C>T (p.Ser132=) c.318C>T (p.Ser106=) n.459C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349067G>C | CA494097176 | UMOD | c.234C>G (p.Ser78=) c.333C>G (p.Ser111=) c.381C>G (p.Ser127=) c.303C>G (p.Ser101=) c.396C>G (p.Ser132=) c.318C>G (p.Ser106=) n.459C>G | gnomAD v4 |
16 | g.20349067G= | CA2211943482 | UMOD | c.234C= (p.Ser78=) c.333C= (p.Ser111=) c.381C= (p.Ser127=) c.303C= (p.Ser101=) c.396C= (p.Ser132=) c.318C= (p.Ser106=) n.459C= | |
16 | g.20349067G>T | CA494097177 | UMOD | c.234C>A (p.Ser78=) c.333C>A (p.Ser111=) c.381C>A (p.Ser127=) c.303C>A (p.Ser101=) c.396C>A (p.Ser132=) c.318C>A (p.Ser106=) n.459C>A | gnomAD v4 |
16 | g.20349068G>A | CA394987170 | UMOD | c.233C>T (p.Ser78Phe) c.332C>T (p.Ser111Phe) c.380C>T (p.Ser127Phe) c.302C>T (p.Ser101Phe) c.395C>T (p.Ser132Phe) c.317C>T (p.Ser106Phe) n.458C>T | |
16 | g.20349068G>C | CA394987175 | UMOD | c.233C>G (p.Ser78Cys) c.332C>G (p.Ser111Cys) c.380C>G (p.Ser127Cys) c.302C>G (p.Ser101Cys) c.395C>G (p.Ser132Cys) c.317C>G (p.Ser106Cys) n.458C>G | |
16 | g.20349068G>T | CA394987177 | UMOD | c.233C>A (p.Ser78Tyr) c.332C>A (p.Ser111Tyr) c.380C>A (p.Ser127Tyr) c.302C>A (p.Ser101Tyr) c.395C>A (p.Ser132Tyr) c.317C>A (p.Ser106Tyr) n.458C>A | |
16 | g.20349069A= | CA2211943487 | UMOD | c.232T= (p.Ser78=) c.331T= (p.Ser111=) c.379T= (p.Ser127=) c.301T= (p.Ser101=) c.394T= (p.Ser132=) c.316T= (p.Ser106=) n.457T= | |
16 | g.20349069A>C | CA394987180 | UMOD | c.232T>G (p.Ser78Ala) c.331T>G (p.Ser111Ala) c.379T>G (p.Ser127Ala) c.301T>G (p.Ser101Ala) c.394T>G (p.Ser132Ala) c.316T>G (p.Ser106Ala) n.457T>G | |
16 | g.20349069A>G | CA394987181 | UMOD | c.232T>C (p.Ser78Pro) c.331T>C (p.Ser111Pro) c.379T>C (p.Ser127Pro) c.301T>C (p.Ser101Pro) c.394T>C (p.Ser132Pro) c.316T>C (p.Ser106Pro) n.457T>C | dbSNP gnomAD v4 |
16 | g.20349069A>T | CA394987182 | UMOD | c.232T>A (p.Ser78Thr) c.331T>A (p.Ser111Thr) c.379T>A (p.Ser127Thr) c.301T>A (p.Ser101Thr) c.394T>A (p.Ser132Thr) c.316T>A (p.Ser106Thr) n.457T>A | |
16 | g.20349070G>A | CA494097184 | UMOD | c.231C>T (p.Cys77=) c.330C>T (p.Cys110=) c.378C>T (p.Cys126=) c.300C>T (p.Cys100=) c.393C>T (p.Cys131=) c.315C>T (p.Cys105=) n.456C>T | |
16 | g.20349070G>C | CA394987186 | UMOD | c.231C>G (p.Cys77Trp) c.330C>G (p.Cys110Trp) c.378C>G (p.Cys126Trp) c.300C>G (p.Cys100Trp) c.393C>G (p.Cys131Trp) c.315C>G (p.Cys105Trp) n.456C>G | |
16 | g.20349070G>T | CA394987184 | UMOD | c.231C>A (p.Cys77Ter) c.330C>A (p.Cys110Ter) c.378C>A (p.Cys126Ter) c.300C>A (p.Cys100Ter) c.393C>A (p.Cys131Ter) c.315C>A (p.Cys105Ter) n.456C>A | |
16 | g.20349071C>A | CA394987201 | UMOD | c.230G>T (p.Cys77Phe) c.329G>T (p.Cys110Phe) c.377G>T (p.Cys126Phe) c.299G>T (p.Cys100Phe) c.392G>T (p.Cys131Phe) c.314G>T (p.Cys105Phe) n.455G>T | |
16 | g.20349071C= | CA2211943493 | UMOD | c.230G= (p.Cys77=) c.329G= (p.Cys110=) c.377G= (p.Cys126=) c.299G= (p.Cys100=) c.392G= (p.Cys131=) c.314G= (p.Cys105=) n.455G= | |
16 | g.20349071C>G | CA394987202 | UMOD | c.230G>C (p.Cys77Ser) c.329G>C (p.Cys110Ser) c.377G>C (p.Cys126Ser) c.299G>C (p.Cys100Ser) c.392G>C (p.Cys131Ser) c.314G>C (p.Cys105Ser) n.455G>C | ClinVar dbSNP |
16 | g.20349071C>T | CA256244 | UMOD | c.230G>A (p.Cys77Tyr) c.329G>A (p.Cys110Tyr) c.377G>A (p.Cys126Tyr) c.299G>A (p.Cys100Tyr) c.392G>A (p.Cys131Tyr) c.314G>A (p.Cys105Tyr) n.455G>A | ClinVar dbSNP |
16 | g.20349072A>C | CA394987207 | UMOD | c.229T>G (p.Cys77Gly) c.328T>G (p.Cys110Gly) c.376T>G (p.Cys126Gly) c.298T>G (p.Cys100Gly) c.391T>G (p.Cys131Gly) c.313T>G (p.Cys105Gly) n.454T>G | |
16 | g.20349072A>G | CA394987210 | UMOD | c.229T>C (p.Cys77Arg) c.328T>C (p.Cys110Arg) c.376T>C (p.Cys126Arg) c.298T>C (p.Cys100Arg) c.391T>C (p.Cys131Arg) c.313T>C (p.Cys105Arg) n.454T>C | ClinVar dbSNP |
16 | g.20349072A>T | CA394987211 | UMOD | c.229T>A (p.Cys77Ser) c.328T>A (p.Cys110Ser) c.376T>A (p.Cys126Ser) c.298T>A (p.Cys100Ser) c.391T>A (p.Cys131Ser) c.313T>A (p.Cys105Ser) n.454T>A | |
16 | g.20349073G>A | CA494097188 | UMOD | c.228C>T (p.Asn76=) c.327C>T (p.Asn109=) c.375C>T (p.Asn125=) c.297C>T (p.Asn99=) c.390C>T (p.Asn130=) c.312C>T (p.Asn104=) n.453C>T | |
16 | g.20349073G>C | CA394987212 | UMOD | c.228C>G (p.Asn76Lys) c.327C>G (p.Asn109Lys) c.375C>G (p.Asn125Lys) c.297C>G (p.Asn99Lys) c.390C>G (p.Asn130Lys) c.312C>G (p.Asn104Lys) n.453C>G | |
16 | g.20349073G>T | CA394987213 | UMOD | c.228C>A (p.Asn76Lys) c.327C>A (p.Asn109Lys) c.375C>A (p.Asn125Lys) c.297C>A (p.Asn99Lys) c.390C>A (p.Asn130Lys) c.312C>A (p.Asn104Lys) n.453C>A | gnomAD v4 |
16 | g.20349074T>A | CA394987214 | UMOD | c.227A>T (p.Asn76Ile) c.326A>T (p.Asn109Ile) c.374A>T (p.Asn125Ile) c.296A>T (p.Asn99Ile) c.389A>T (p.Asn130Ile) c.311A>T (p.Asn104Ile) n.452A>T | |
16 | g.20349074T>C | CA394987218 | UMOD | c.227A>G (p.Asn76Ser) c.326A>G (p.Asn109Ser) c.374A>G (p.Asn125Ser) c.296A>G (p.Asn99Ser) c.389A>G (p.Asn130Ser) c.311A>G (p.Asn104Ser) n.452A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349074T>G | CA394987228 | UMOD | c.227A>C (p.Asn76Thr) c.326A>C (p.Asn109Thr) c.374A>C (p.Asn125Thr) c.296A>C (p.Asn99Thr) c.389A>C (p.Asn130Thr) c.311A>C (p.Asn104Thr) n.452A>C | dbSNP |
16 | g.20349074T= | CA2211943498 | UMOD | c.227A= (p.Asn76=) c.326A= (p.Asn109=) c.374A= (p.Asn125=) c.296A= (p.Asn99=) c.389A= (p.Asn130=) c.311A= (p.Asn104=) n.452A= | |
16 | g.20349075T>A | CA394987235 | UMOD | c.226A>T (p.Asn76Tyr) c.325A>T (p.Asn109Tyr) c.373A>T (p.Asn125Tyr) c.295A>T (p.Asn99Tyr) c.388A>T (p.Asn130Tyr) c.310A>T (p.Asn104Tyr) n.451A>T | |
16 | g.20349075T>C | CA7939476 | UMOD | c.226A>G (p.Asn76Asp) c.325A>G (p.Asn109Asp) c.373A>G (p.Asn125Asp) c.295A>G (p.Asn99Asp) c.388A>G (p.Asn130Asp) c.310A>G (p.Asn104Asp) n.451A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20349075T>G | CA394987233 | UMOD | c.226A>C (p.Asn76His) c.325A>C (p.Asn109His) c.373A>C (p.Asn125His) c.295A>C (p.Asn99His) c.388A>C (p.Asn130His) c.310A>C (p.Asn104His) n.451A>C | |
16 | g.20349075T= | CA2211943505 | UMOD | c.226A= (p.Asn76=) c.325A= (p.Asn109=) c.373A= (p.Asn125=) c.295A= (p.Asn99=) c.388A= (p.Asn130=) c.310A= (p.Asn104=) n.451A= | |
16 | g.20349076G>A | CA494097193 | UMOD | c.225C>T (p.His75=) c.324C>T (p.His108=) c.372C>T (p.His124=) c.294C>T (p.His98=) c.387C>T (p.His129=) c.309C>T (p.His103=) n.450C>T | |
16 | g.20349076G>C | CA394987237 | UMOD | c.225C>G (p.His75Gln) c.324C>G (p.His108Gln) c.372C>G (p.His124Gln) c.294C>G (p.His98Gln) c.387C>G (p.His129Gln) c.309C>G (p.His103Gln) n.450C>G | |
16 | g.20349076G= | CA2211943508 | UMOD | c.225C= (p.His75=) c.324C= (p.His108=) c.372C= (p.His124=) c.294C= (p.His98=) c.387C= (p.His129=) c.309C= (p.His103=) n.450C= | |
16 | g.20349076G>T | CA279300234 | UMOD | c.225C>A (p.His75Gln) c.324C>A (p.His108Gln) c.372C>A (p.His124Gln) c.294C>A (p.His98Gln) c.387C>A (p.His129Gln) c.309C>A (p.His103Gln) n.450C>A | dbSNP |
16 | g.20349077T>A | CA394987239 | UMOD | c.224A>T (p.His75Leu) c.323A>T (p.His108Leu) c.371A>T (p.His124Leu) c.293A>T (p.His98Leu) c.386A>T (p.His129Leu) c.308A>T (p.His103Leu) n.449A>T | |
16 | g.20349077T>C | CA394987241 | UMOD | c.224A>G (p.His75Arg) c.323A>G (p.His108Arg) c.371A>G (p.His124Arg) c.293A>G (p.His98Arg) c.386A>G (p.His129Arg) c.308A>G (p.His103Arg) n.449A>G | |
16 | g.20349077T>G | CA394987244 | UMOD | c.224A>C (p.His75Pro) c.323A>C (p.His108Pro) c.371A>C (p.His124Pro) c.293A>C (p.His98Pro) c.386A>C (p.His129Pro) c.308A>C (p.His103Pro) n.449A>C | |
16 | g.20349078G>A | CA394987259 | UMOD | c.223C>T (p.His75Tyr) c.322C>T (p.His108Tyr) c.370C>T (p.His124Tyr) c.292C>T (p.His98Tyr) c.385C>T (p.His129Tyr) c.307C>T (p.His103Tyr) n.448C>T | |
16 | g.20349078G>C | CA394987264 | UMOD | c.223C>G (p.His75Asp) c.322C>G (p.His108Asp) c.370C>G (p.His124Asp) c.292C>G (p.His98Asp) c.385C>G (p.His129Asp) c.307C>G (p.His103Asp) n.448C>G | |
16 | g.20349078G>T | CA394987267 | UMOD | c.223C>A (p.His75Asn) c.322C>A (p.His108Asn) c.370C>A (p.His124Asn) c.292C>A (p.His98Asn) c.385C>A (p.His129Asn) c.307C>A (p.His103Asn) n.448C>A | |
16 | g.20349079A>C | CA494097198 | UMOD | c.222T>G (p.Ala74=) c.321T>G (p.Ala107=) c.369T>G (p.Ala123=) c.291T>G (p.Ala97=) c.384T>G (p.Ala128=) c.306T>G (p.Ala102=) n.447T>G | |
16 | g.20349079A>G | CA494097199 | UMOD | c.222T>C (p.Ala74=) c.321T>C (p.Ala107=) c.369T>C (p.Ala123=) c.291T>C (p.Ala97=) c.384T>C (p.Ala128=) c.306T>C (p.Ala102=) n.447T>C | |
16 | g.20349079A>T | CA494097200 | UMOD | c.222T>A (p.Ala74=) c.321T>A (p.Ala107=) c.369T>A (p.Ala123=) c.291T>A (p.Ala97=) c.384T>A (p.Ala128=) c.306T>A (p.Ala102=) n.447T>A | |
16 | g.20349080G>A | CA394987287 | UMOD | c.221C>T (p.Ala74Val) c.320C>T (p.Ala107Val) c.368C>T (p.Ala123Val) c.290C>T (p.Ala97Val) c.383C>T (p.Ala128Val) c.305C>T (p.Ala102Val) n.446C>T | dbSNP |
16 | g.20349080G>C | CA394987288 | UMOD | c.221C>G (p.Ala74Gly) c.320C>G (p.Ala107Gly) c.368C>G (p.Ala123Gly) c.290C>G (p.Ala97Gly) c.383C>G (p.Ala128Gly) c.305C>G (p.Ala102Gly) n.446C>G | |
16 | g.20349080G= | CA2211943510 | UMOD | c.221C= (p.Ala74=) c.320C= (p.Ala107=) c.368C= (p.Ala123=) c.290C= (p.Ala97=) c.383C= (p.Ala128=) c.305C= (p.Ala102=) n.446C= | |
16 | g.20349080G>T | CA394987293 | UMOD | c.221C>A (p.Ala74Asp) c.320C>A (p.Ala107Asp) c.368C>A (p.Ala123Asp) c.290C>A (p.Ala97Asp) c.383C>A (p.Ala128Asp) c.305C>A (p.Ala102Asp) n.446C>A | |
16 | g.20349081C>A | CA394987296 | UMOD | c.220G>T (p.Ala74Ser) c.319G>T (p.Ala107Ser) c.367G>T (p.Ala123Ser) c.289G>T (p.Ala97Ser) c.382G>T (p.Ala128Ser) c.304G>T (p.Ala102Ser) n.445G>T | ClinVar dbSNP |
16 | g.20349081C= | CA2211943512 | UMOD | c.220G= (p.Ala74=) c.319G= (p.Ala107=) c.367G= (p.Ala123=) c.289G= (p.Ala97=) c.382G= (p.Ala128=) c.304G= (p.Ala102=) n.445G= | |
16 | g.20349081C>G | CA394987300 | UMOD | c.220G>C (p.Ala74Pro) c.319G>C (p.Ala107Pro) c.367G>C (p.Ala123Pro) c.289G>C (p.Ala97Pro) c.382G>C (p.Ala128Pro) c.304G>C (p.Ala102Pro) n.445G>C | |
16 | g.20349081C>T | CA394987304 | UMOD | c.220G>A (p.Ala74Thr) c.319G>A (p.Ala107Thr) c.367G>A (p.Ala123Thr) c.289G>A (p.Ala97Thr) c.382G>A (p.Ala128Thr) c.304G>A (p.Ala102Thr) n.445G>A | |
16 | g.20349082T>A | CA494097205 | UMOD | c.219A>T (p.Gly73=) c.318A>T (p.Gly106=) c.366A>T (p.Gly122=) c.288A>T (p.Gly96=) c.381A>T (p.Gly127=) c.303A>T (p.Gly101=) n.444A>T | |
16 | g.20349082T>C | CA494097207 | UMOD | c.219A>G (p.Gly73=) c.318A>G (p.Gly106=) c.366A>G (p.Gly122=) c.288A>G (p.Gly96=) c.381A>G (p.Gly127=) c.303A>G (p.Gly101=) n.444A>G | gnomAD v4 |
16 | g.20349082T>G | CA7939477 | UMOD | c.219A>C (p.Gly73=) c.318A>C (p.Gly106=) c.366A>C (p.Gly122=) c.288A>C (p.Gly96=) c.381A>C (p.Gly127=) c.303A>C (p.Gly101=) n.444A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349082T= | CA2211943516 | UMOD | c.219A= (p.Gly73=) c.318A= (p.Gly106=) c.366A= (p.Gly122=) c.288A= (p.Gly96=) c.381A= (p.Gly127=) c.303A= (p.Gly101=) n.444A= | |
16 | g.20349083C>A | CA394987313 | UMOD | c.218G>T (p.Gly73Val) c.317G>T (p.Gly106Val) c.365G>T (p.Gly122Val) c.287G>T (p.Gly96Val) c.380G>T (p.Gly127Val) c.302G>T (p.Gly101Val) n.443G>T | |
16 | g.20349083C>G | CA394987316 | UMOD | c.218G>C (p.Gly73Ala) c.317G>C (p.Gly106Ala) c.365G>C (p.Gly122Ala) c.287G>C (p.Gly96Ala) c.380G>C (p.Gly127Ala) c.302G>C (p.Gly101Ala) n.443G>C | |
16 | g.20349083C>T | CA394987318 | UMOD | c.218G>A (p.Gly73Glu) c.317G>A (p.Gly106Glu) c.365G>A (p.Gly122Glu) c.287G>A (p.Gly96Glu) c.380G>A (p.Gly127Glu) c.302G>A (p.Gly101Glu) n.443G>A | |
16 | g.20349084C>A | CA394987321 | UMOD | c.217G>T (p.Gly73Ter) c.316G>T (p.Gly106Ter) c.364G>T (p.Gly122Ter) c.286G>T (p.Gly96Ter) c.379G>T (p.Gly127Ter) c.301G>T (p.Gly101Ter) n.442G>T | |
16 | g.20349084C= | CA2211943520 | UMOD | c.217G= (p.Gly73=) c.316G= (p.Gly106=) c.364G= (p.Gly122=) c.286G= (p.Gly96=) c.379G= (p.Gly127=) c.301G= (p.Gly101=) n.442G= | |
16 | g.20349084C>G | CA394987322 | UMOD | c.217G>C (p.Gly73Arg) c.316G>C (p.Gly106Arg) c.364G>C (p.Gly122Arg) c.286G>C (p.Gly96Arg) c.379G>C (p.Gly127Arg) c.301G>C (p.Gly101Arg) n.442G>C | |
16 | g.20349084C>T | CA394987323 | UMOD | c.217G>A (p.Gly73Arg) c.316G>A (p.Gly106Arg) c.364G>A (p.Gly122Arg) c.286G>A (p.Gly96Arg) c.379G>A (p.Gly127Arg) c.301G>A (p.Gly101Arg) n.442G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349085A= | CA2211943522 | UMOD | c.216T= (p.Pro72=) c.315T= (p.Pro105=) c.363T= (p.Pro121=) c.285T= (p.Pro95=) c.378T= (p.Pro126=) c.300T= (p.Pro100=) n.441T= | |
16 | g.20349085A>C | CA494097211 | UMOD | c.216T>G (p.Pro72=) c.315T>G (p.Pro105=) c.363T>G (p.Pro121=) c.285T>G (p.Pro95=) c.378T>G (p.Pro126=) c.300T>G (p.Pro100=) n.441T>G | |
16 | g.20349085A>G | CA7939478 | UMOD | c.216T>C (p.Pro72=) c.315T>C (p.Pro105=) c.363T>C (p.Pro121=) c.285T>C (p.Pro95=) c.378T>C (p.Pro126=) c.300T>C (p.Pro100=) n.441T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20349085A>T | CA494097209 | UMOD | c.216T>A (p.Pro72=) c.315T>A (p.Pro105=) c.363T>A (p.Pro121=) c.285T>A (p.Pro95=) c.378T>A (p.Pro126=) c.300T>A (p.Pro100=) n.441T>A | |
16 | g.20349086G>A | CA394987328 | UMOD | c.215C>T (p.Pro72Leu) c.314C>T (p.Pro105Leu) c.362C>T (p.Pro121Leu) c.284C>T (p.Pro95Leu) c.377C>T (p.Pro126Leu) c.299C>T (p.Pro100Leu) n.440C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349086G>C | CA394987331 | UMOD | c.215C>G (p.Pro72Arg) c.314C>G (p.Pro105Arg) c.362C>G (p.Pro121Arg) c.284C>G (p.Pro95Arg) c.377C>G (p.Pro126Arg) c.299C>G (p.Pro100Arg) n.440C>G | |
16 | g.20349086G= | CA2211943527 | UMOD | c.215C= (p.Pro72=) c.314C= (p.Pro105=) c.362C= (p.Pro121=) c.284C= (p.Pro95=) c.377C= (p.Pro126=) c.299C= (p.Pro100=) n.440C= | |
16 | g.20349086G>T | CA394987333 | UMOD | c.215C>A (p.Pro72His) c.314C>A (p.Pro105His) c.362C>A (p.Pro121His) c.284C>A (p.Pro95His) c.377C>A (p.Pro126His) c.299C>A (p.Pro100His) n.440C>A | gnomAD v4 |
16 | g.20349087G>A | CA394987340 | UMOD | c.214C>T (p.Pro72Ser) c.313C>T (p.Pro105Ser) c.361C>T (p.Pro121Ser) c.283C>T (p.Pro95Ser) c.376C>T (p.Pro126Ser) c.298C>T (p.Pro100Ser) n.439C>T | COSMIC COSMIC |
16 | g.20349087G>C | CA279300247 | UMOD | c.214C>G (p.Pro72Ala) c.313C>G (p.Pro105Ala) c.361C>G (p.Pro121Ala) c.283C>G (p.Pro95Ala) c.376C>G (p.Pro126Ala) c.298C>G (p.Pro100Ala) n.439C>G | dbSNP gnomAD v4 |
16 | g.20349087G= | CA2211943529 | UMOD | c.214C= (p.Pro72=) c.313C= (p.Pro105=) c.361C= (p.Pro121=) c.283C= (p.Pro95=) c.376C= (p.Pro126=) c.298C= (p.Pro100=) n.439C= | |
16 | g.20349087G>T | CA394987343 | UMOD | c.214C>A (p.Pro72Thr) c.313C>A (p.Pro105Thr) c.361C>A (p.Pro121Thr) c.283C>A (p.Pro95Thr) c.376C>A (p.Pro126Thr) c.298C>A (p.Pro100Thr) n.439C>A | gnomAD v4 |
16 | g.20349088A= | CA2211943531 | UMOD | c.213T= (p.Ile71=) c.312T= (p.Ile104=) c.360T= (p.Ile120=) c.282T= (p.Ile94=) c.375T= (p.Ile125=) c.297T= (p.Ile99=) n.438T= | |
16 | g.20349088A>C | CA394987350 | UMOD | c.213T>G (p.Ile71Met) c.312T>G (p.Ile104Met) c.360T>G (p.Ile120Met) c.282T>G (p.Ile94Met) c.375T>G (p.Ile125Met) c.297T>G (p.Ile99Met) n.438T>G | |
16 | g.20349088A>G | CA7939479 | UMOD | c.213T>C (p.Ile71=) c.312T>C (p.Ile104=) c.360T>C (p.Ile120=) c.282T>C (p.Ile94=) c.375T>C (p.Ile125=) c.297T>C (p.Ile99=) n.438T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349088A>T | CA494097218 | UMOD | c.213T>A (p.Ile71=) c.312T>A (p.Ile104=) c.360T>A (p.Ile120=) c.282T>A (p.Ile94=) c.375T>A (p.Ile125=) c.297T>A (p.Ile99=) n.438T>A | |
16 | g.20349089A>C | CA394987354 | UMOD | c.212T>G (p.Ile71Ser) c.311T>G (p.Ile104Ser) c.359T>G (p.Ile120Ser) c.281T>G (p.Ile94Ser) c.374T>G (p.Ile125Ser) c.296T>G (p.Ile99Ser) n.437T>G | |
16 | g.20349089A>G | CA394987355 | UMOD | c.212T>C (p.Ile71Thr) c.311T>C (p.Ile104Thr) c.359T>C (p.Ile120Thr) c.281T>C (p.Ile94Thr) c.374T>C (p.Ile125Thr) c.296T>C (p.Ile99Thr) n.437T>C | |
16 | g.20349089A>T | CA394987356 | UMOD | c.212T>A (p.Ile71Asn) c.311T>A (p.Ile104Asn) c.359T>A (p.Ile120Asn) c.281T>A (p.Ile94Asn) c.374T>A (p.Ile125Asn) c.296T>A (p.Ile99Asn) n.437T>A | |
16 | g.20349090T>A | CA394987357 | UMOD | c.211A>T (p.Ile71Phe) c.310A>T (p.Ile104Phe) c.358A>T (p.Ile120Phe) c.280A>T (p.Ile94Phe) c.373A>T (p.Ile125Phe) c.295A>T (p.Ile99Phe) n.436A>T | |
16 | g.20349090T>C | CA394987358 | UMOD | c.211A>G (p.Ile71Val) c.310A>G (p.Ile104Val) c.358A>G (p.Ile120Val) c.280A>G (p.Ile94Val) c.373A>G (p.Ile125Val) c.295A>G (p.Ile99Val) n.436A>G | |
16 | g.20349090T>G | CA394987360 | UMOD | c.211A>C (p.Ile71Leu) c.310A>C (p.Ile104Leu) c.358A>C (p.Ile120Leu) c.280A>C (p.Ile94Leu) c.373A>C (p.Ile125Leu) c.295A>C (p.Ile99Leu) n.436A>C | |
16 | g.20349091G>A | CA494097220 | UMOD | c.210C>T (p.Ala70=) c.309C>T (p.Ala103=) c.357C>T (p.Ala119=) c.279C>T (p.Ala93=) c.372C>T (p.Ala124=) c.294C>T (p.Ala98=) n.435C>T | |
16 | g.20349091G>C | CA494097222 | UMOD | c.210C>G (p.Ala70=) c.309C>G (p.Ala103=) c.357C>G (p.Ala119=) c.279C>G (p.Ala93=) c.372C>G (p.Ala124=) c.294C>G (p.Ala98=) n.435C>G | |
16 | g.20349091G>T | CA494097223 | UMOD | c.210C>A (p.Ala70=) c.309C>A (p.Ala103=) c.357C>A (p.Ala119=) c.279C>A (p.Ala93=) c.372C>A (p.Ala124=) c.294C>A (p.Ala98=) n.435C>A | |
16 | g.20349092G>A | CA7939480 | UMOD | c.209C>T (p.Ala70Val) c.308C>T (p.Ala103Val) c.356C>T (p.Ala119Val) c.278C>T (p.Ala93Val) c.371C>T (p.Ala124Val) c.293C>T (p.Ala98Val) n.434C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20349092G>C | CA394987361 | UMOD | c.209C>G (p.Ala70Gly) c.308C>G (p.Ala103Gly) c.356C>G (p.Ala119Gly) c.278C>G (p.Ala93Gly) c.371C>G (p.Ala124Gly) c.293C>G (p.Ala98Gly) n.434C>G | |
16 | g.20349092G= | CA2211943534 | UMOD | c.209C= (p.Ala70=) c.308C= (p.Ala103=) c.356C= (p.Ala119=) c.278C= (p.Ala93=) c.371C= (p.Ala124=) c.293C= (p.Ala98=) n.434C= | |
16 | g.20349092G>T | CA394987363 | UMOD | c.209C>A (p.Ala70Asp) c.308C>A (p.Ala103Asp) c.356C>A (p.Ala119Asp) c.278C>A (p.Ala93Asp) c.371C>A (p.Ala124Asp) c.293C>A (p.Ala98Asp) n.434C>A | |
16 | g.20349093C>A | CA394987374 | UMOD | c.208G>T (p.Ala70Ser) c.307G>T (p.Ala103Ser) c.355G>T (p.Ala119Ser) c.277G>T (p.Ala93Ser) c.370G>T (p.Ala124Ser) c.292G>T (p.Ala98Ser) n.433G>T | dbSNP gnomAD v4 |
16 | g.20349093C= | CA2211943537 | UMOD | c.208G= (p.Ala70=) c.307G= (p.Ala103=) c.355G= (p.Ala119=) c.277G= (p.Ala93=) c.370G= (p.Ala124=) c.292G= (p.Ala98=) n.433G= | |
16 | g.20349093C>G | CA394987378 | UMOD | c.208G>C (p.Ala70Pro) c.307G>C (p.Ala103Pro) c.355G>C (p.Ala119Pro) c.277G>C (p.Ala93Pro) c.370G>C (p.Ala124Pro) c.292G>C (p.Ala98Pro) n.433G>C | |
16 | g.20349093C>T | CA7939481 | UMOD | c.208G>A (p.Ala70Thr) c.307G>A (p.Ala103Thr) c.355G>A (p.Ala119Thr) c.277G>A (p.Ala93Thr) c.370G>A (p.Ala124Thr) c.292G>A (p.Ala98Thr) n.433G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.20349094G>A | CA494097226 | UMOD | c.207C>T (p.Cys69=) c.306C>T (p.Cys102=) c.354C>T (p.Cys118=) c.276C>T (p.Cys92=) c.369C>T (p.Cys123=) c.291C>T (p.Cys97=) n.432C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349094G>C | CA394987393 | UMOD | c.207C>G (p.Cys69Trp) c.306C>G (p.Cys102Trp) c.354C>G (p.Cys118Trp) c.276C>G (p.Cys92Trp) c.369C>G (p.Cys123Trp) c.291C>G (p.Cys97Trp) n.432C>G | |
16 | g.20349094G= | CA2211943539 | UMOD | c.207C= (p.Cys69=) c.306C= (p.Cys102=) c.354C= (p.Cys118=) c.276C= (p.Cys92=) c.369C= (p.Cys123=) c.291C= (p.Cys97=) n.432C= | |
16 | g.20349094G>T | CA394987394 | UMOD | c.207C>A (p.Cys69Ter) c.306C>A (p.Cys102Ter) c.354C>A (p.Cys118Ter) c.276C>A (p.Cys92Ter) c.369C>A (p.Cys123Ter) c.291C>A (p.Cys97Ter) n.432C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349095C>A | CA394987399 | UMOD | c.206G>T (p.Cys69Phe) c.305G>T (p.Cys102Phe) c.353G>T (p.Cys118Phe) c.275G>T (p.Cys92Phe) c.368G>T (p.Cys123Phe) c.290G>T (p.Cys97Phe) n.431G>T | |
16 | g.20349095C>G | CA394987397 | UMOD | c.206G>C (p.Cys69Ser) c.305G>C (p.Cys102Ser) c.353G>C (p.Cys118Ser) c.275G>C (p.Cys92Ser) c.368G>C (p.Cys123Ser) c.290G>C (p.Cys97Ser) n.431G>C | |
16 | g.20349095C>T | CA394987398 | UMOD | c.206G>A (p.Cys69Tyr) c.305G>A (p.Cys102Tyr) c.353G>A (p.Cys118Tyr) c.275G>A (p.Cys92Tyr) c.368G>A (p.Cys123Tyr) c.290G>A (p.Cys97Tyr) n.431G>A | |
16 | g.20349096A= | CA2211943544 | UMOD | c.205T= (p.Cys69=) c.304T= (p.Cys102=) c.352T= (p.Cys118=) c.274T= (p.Cys92=) c.367T= (p.Cys123=) c.289T= (p.Cys97=) n.430T= | |
16 | g.20349096A>C | CA394987400 | UMOD | c.205T>G (p.Cys69Gly) c.304T>G (p.Cys102Gly) c.352T>G (p.Cys118Gly) c.274T>G (p.Cys92Gly) c.367T>G (p.Cys123Gly) c.289T>G (p.Cys97Gly) n.430T>G | |
16 | g.20349096A>G | CA394987403 | UMOD | c.205T>C (p.Cys69Arg) c.304T>C (p.Cys102Arg) c.352T>C (p.Cys118Arg) c.274T>C (p.Cys92Arg) c.367T>C (p.Cys123Arg) c.289T>C (p.Cys97Arg) n.430T>C | |
16 | g.20349096A>T | CA394987404 | UMOD | c.205T>A (p.Cys69Ser) c.304T>A (p.Cys102Ser) c.352T>A (p.Cys118Ser) c.274T>A (p.Cys92Ser) c.367T>A (p.Cys123Ser) c.289T>A (p.Cys97Ser) n.430T>A | ClinVar dbSNP |
16 | g.20349097C>A | CA394987405 | UMOD | c.204G>T (p.Glu68Asp) c.303G>T (p.Glu101Asp) c.351G>T (p.Glu117Asp) c.273G>T (p.Glu91Asp) c.366G>T (p.Glu122Asp) c.288G>T (p.Glu96Asp) n.429G>T | dbSNP |
16 | g.20349097C>G | CA394987407 | UMOD | c.204G>C (p.Glu68Asp) c.303G>C (p.Glu101Asp) c.351G>C (p.Glu117Asp) c.273G>C (p.Glu91Asp) c.366G>C (p.Glu122Asp) c.288G>C (p.Glu96Asp) n.429G>C | |
16 | g.20349097C>T | CA494097230 | UMOD | c.204G>A (p.Glu68=) c.303G>A (p.Glu101=) c.351G>A (p.Glu117=) c.273G>A (p.Glu91=) c.366G>A (p.Glu122=) c.288G>A (p.Glu96=) n.429G>A | |
16 | g.20349098T>A | CA394987412 | UMOD | c.203A>T (p.Glu68Val) c.302A>T (p.Glu101Val) c.350A>T (p.Glu117Val) c.272A>T (p.Glu91Val) c.365A>T (p.Glu122Val) c.287A>T (p.Glu96Val) n.428A>T | ClinVar dbSNP |
16 | g.20349098T>C | CA394987425 | UMOD | c.203A>G (p.Glu68Gly) c.302A>G (p.Glu101Gly) c.350A>G (p.Glu117Gly) c.272A>G (p.Glu91Gly) c.365A>G (p.Glu122Gly) c.287A>G (p.Glu96Gly) n.428A>G | |
16 | g.20349098T>G | CA394987429 | UMOD | c.203A>C (p.Glu68Ala) c.302A>C (p.Glu101Ala) c.350A>C (p.Glu117Ala) c.272A>C (p.Glu91Ala) c.365A>C (p.Glu122Ala) c.287A>C (p.Glu96Ala) n.428A>C | |
16 | g.20349099C>A | CA394987435 | UMOD | c.202G>T (p.Glu68Ter) c.301G>T (p.Glu101Ter) c.349G>T (p.Glu117Ter) c.271G>T (p.Glu91Ter) c.364G>T (p.Glu122Ter) c.286G>T (p.Glu96Ter) n.427G>T | |
16 | g.20349099C= | CA2211943548 | UMOD | c.202G= (p.Glu68=) c.301G= (p.Glu101=) c.349G= (p.Glu117=) c.271G= (p.Glu91=) c.364G= (p.Glu122=) c.286G= (p.Glu96=) n.427G= | |
16 | g.20349099C>G | CA394987438 | UMOD | c.202G>C (p.Glu68Gln) c.301G>C (p.Glu101Gln) c.349G>C (p.Glu117Gln) c.271G>C (p.Glu91Gln) c.364G>C (p.Glu122Gln) c.286G>C (p.Glu96Gln) n.427G>C | |
16 | g.20349099C>T | CA394987445 | UMOD | c.202G>A (p.Glu68Lys) c.301G>A (p.Glu101Lys) c.349G>A (p.Glu117Lys) c.271G>A (p.Glu91Lys) c.364G>A (p.Glu122Lys) c.286G>A (p.Glu96Lys) n.427G>A | ClinVar dbSNP |
16 | g.20349100A>C | CA394987449 | UMOD | c.201T>G (p.Asp67Glu) c.300T>G (p.Asp100Glu) c.348T>G (p.Asp116Glu) c.270T>G (p.Asp90Glu) c.363T>G (p.Asp121Glu) c.285T>G (p.Asp95Glu) n.426T>G | gnomAD v4 |
16 | g.20349100A>G | CA494097233 | UMOD | c.201T>C (p.Asp67=) c.300T>C (p.Asp100=) c.348T>C (p.Asp116=) c.270T>C (p.Asp90=) c.363T>C (p.Asp121=) c.285T>C (p.Asp95=) n.426T>C | |
16 | g.20349100A>T | CA394987453 | UMOD | c.201T>A (p.Asp67Glu) c.300T>A (p.Asp100Glu) c.348T>A (p.Asp116Glu) c.270T>A (p.Asp90Glu) c.363T>A (p.Asp121Glu) c.285T>A (p.Asp95Glu) n.426T>A | |
16 | g.20349101T>A | CA394987457 | UMOD | c.200A>T (p.Asp67Val) c.299A>T (p.Asp100Val) c.347A>T (p.Asp116Val) c.269A>T (p.Asp90Val) c.362A>T (p.Asp121Val) c.284A>T (p.Asp95Val) n.425A>T | |
16 | g.20349101T>C | CA394987467 | UMOD | c.200A>G (p.Asp67Gly) c.299A>G (p.Asp100Gly) c.347A>G (p.Asp116Gly) c.269A>G (p.Asp90Gly) c.362A>G (p.Asp121Gly) c.284A>G (p.Asp95Gly) n.425A>G | ClinVar |
16 | g.20349101T>G | CA394987463 | UMOD | c.200A>C (p.Asp67Ala) c.299A>C (p.Asp100Ala) c.347A>C (p.Asp116Ala) c.269A>C (p.Asp90Ala) c.362A>C (p.Asp121Ala) c.284A>C (p.Asp95Ala) n.425A>C | |
16 | g.20349102C>A | CA394987471 | UMOD | c.199G>T (p.Asp67Tyr) c.298G>T (p.Asp100Tyr) c.346G>T (p.Asp116Tyr) c.268G>T (p.Asp90Tyr) c.361G>T (p.Asp121Tyr) c.283G>T (p.Asp95Tyr) n.424G>T | |
16 | g.20349102C= | CA2211943553 | UMOD | c.199G= (p.Asp67=) c.298G= (p.Asp100=) c.346G= (p.Asp116=) c.268G= (p.Asp90=) c.361G= (p.Asp121=) c.283G= (p.Asp95=) n.424G= | |
16 | g.20349102C>G | CA394987476 | UMOD | c.199G>C (p.Asp67His) c.298G>C (p.Asp100His) c.346G>C (p.Asp116His) c.268G>C (p.Asp90His) c.361G>C (p.Asp121His) c.283G>C (p.Asp95His) n.424G>C | |
16 | g.20349102C>T | CA394987484 | UMOD | c.199G>A (p.Asp67Asn) c.298G>A (p.Asp100Asn) c.346G>A (p.Asp116Asn) c.268G>A (p.Asp90Asn) c.361G>A (p.Asp121Asn) c.283G>A (p.Asp95Asn) n.424G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349103C>A | CA494097241 | UMOD | c.198G>T (p.Leu66=) c.297G>T (p.Leu99=) c.345G>T (p.Leu115=) c.267G>T (p.Leu89=) c.360G>T (p.Leu120=) c.282G>T (p.Leu94=) n.423G>T | |
16 | g.20349103C>G | CA494097237 | UMOD | c.198G>C (p.Leu66=) c.297G>C (p.Leu99=) c.345G>C (p.Leu115=) c.267G>C (p.Leu89=) c.360G>C (p.Leu120=) c.282G>C (p.Leu94=) n.423G>C | |
16 | g.20349103C>T | CA494097238 | UMOD | c.198G>A (p.Leu66=) c.297G>A (p.Leu99=) c.345G>A (p.Leu115=) c.267G>A (p.Leu89=) c.360G>A (p.Leu120=) c.282G>A (p.Leu94=) n.423G>A | |
16 | g.20349104A= | CA2211943558 | UMOD | c.197T= (p.Leu66=) c.296T= (p.Leu99=) c.344T= (p.Leu115=) c.266T= (p.Leu89=) c.359T= (p.Leu120=) c.281T= (p.Leu94=) n.422T= | |
16 | g.20349104A>C | CA394987487 | UMOD | c.197T>G (p.Leu66Arg) c.296T>G (p.Leu99Arg) c.344T>G (p.Leu115Arg) c.266T>G (p.Leu89Arg) c.359T>G (p.Leu120Arg) c.281T>G (p.Leu94Arg) n.422T>G | |
16 | g.20349104A>G | CA394987488 | UMOD | c.197T>C (p.Leu66Pro) c.296T>C (p.Leu99Pro) c.344T>C (p.Leu115Pro) c.266T>C (p.Leu89Pro) c.359T>C (p.Leu120Pro) c.281T>C (p.Leu94Pro) n.422T>C | ClinVar dbSNP |
16 | g.20349104A>T | CA394987490 | UMOD | c.197T>A (p.Leu66Gln) c.296T>A (p.Leu99Gln) c.344T>A (p.Leu115Gln) c.266T>A (p.Leu89Gln) c.359T>A (p.Leu120Gln) c.281T>A (p.Leu94Gln) n.422T>A | |
16 | g.20349104_20349105del | CA2560260875 | UMOD | c.196_197del (p.Leu66GlyfsTer2) c.295_296del (p.Leu99GlyfsTer2) c.343_344del (p.Leu115GlyfsTer2) c.265_266del (p.Leu89GlyfsTer2) c.358_359del (p.Leu120GlyfsTer2) c.280_281del (p.Leu94GlyfsTer2) n.421_422del | |
16 | g.20349105G>A | CA494097243 | UMOD | c.196C>T (p.Leu66=) c.295C>T (p.Leu99=) c.343C>T (p.Leu115=) c.265C>T (p.Leu89=) c.358C>T (p.Leu120=) c.280C>T (p.Leu94=) n.421C>T | |
16 | g.20349105G>C | CA394987493 | UMOD | c.196C>G (p.Leu66Val) c.295C>G (p.Leu99Val) c.343C>G (p.Leu115Val) c.265C>G (p.Leu89Val) c.358C>G (p.Leu120Val) c.280C>G (p.Leu94Val) n.421C>G | |
16 | g.20349105G>T | CA394987495 | UMOD | c.196C>A (p.Leu66Met) c.295C>A (p.Leu99Met) c.343C>A (p.Leu115Met) c.265C>A (p.Leu89Met) c.358C>A (p.Leu120Met) c.280C>A (p.Leu94Met) n.421C>A | |
16 | g.20349106G>A | CA494097244 | UMOD | c.195C>T (p.Asp65=) c.294C>T (p.Asp98=) c.342C>T (p.Asp114=) c.264C>T (p.Asp88=) c.357C>T (p.Asp119=) c.279C>T (p.Asp93=) n.420C>T | |
16 | g.20349106G>C | CA394987501 | UMOD | c.195C>G (p.Asp65Glu) c.294C>G (p.Asp98Glu) c.342C>G (p.Asp114Glu) c.264C>G (p.Asp88Glu) c.357C>G (p.Asp119Glu) c.279C>G (p.Asp93Glu) n.420C>G | |
16 | g.20349106G>T | CA394987504 | UMOD | c.195C>A (p.Asp65Glu) c.294C>A (p.Asp98Glu) c.342C>A (p.Asp114Glu) c.264C>A (p.Asp88Glu) c.357C>A (p.Asp119Glu) c.279C>A (p.Asp93Glu) n.420C>A | |
16 | g.20349107T>A | CA394987510 | UMOD | c.194A>T (p.Asp65Val) c.293A>T (p.Asp98Val) c.341A>T (p.Asp114Val) c.263A>T (p.Asp88Val) c.356A>T (p.Asp119Val) c.278A>T (p.Asp93Val) n.419A>T | |
16 | g.20349107T>C | CA394987512 | UMOD | c.194A>G (p.Asp65Gly) c.293A>G (p.Asp98Gly) c.341A>G (p.Asp114Gly) c.263A>G (p.Asp88Gly) c.356A>G (p.Asp119Gly) c.278A>G (p.Asp93Gly) n.419A>G | |
16 | g.20349107T>G | CA394987516 | UMOD | c.194A>C (p.Asp65Ala) c.293A>C (p.Asp98Ala) c.341A>C (p.Asp114Ala) c.263A>C (p.Asp88Ala) c.356A>C (p.Asp119Ala) c.278A>C (p.Asp93Ala) n.419A>C | |
16 | g.20349108C>A | CA394987526 | UMOD | c.193G>T (p.Asp65Tyr) c.292G>T (p.Asp98Tyr) c.340G>T (p.Asp114Tyr) c.262G>T (p.Asp88Tyr) c.355G>T (p.Asp119Tyr) c.277G>T (p.Asp93Tyr) n.418G>T | |
16 | g.20349108C>G | CA394987519 | UMOD | c.193G>C (p.Asp65His) c.292G>C (p.Asp98His) c.340G>C (p.Asp114His) c.262G>C (p.Asp88His) c.355G>C (p.Asp119His) c.277G>C (p.Asp93His) n.418G>C | |
16 | g.20349108C>T | CA394987523 | UMOD | c.193G>A (p.Asp65Asn) c.292G>A (p.Asp98Asn) c.340G>A (p.Asp114Asn) c.262G>A (p.Asp88Asn) c.355G>A (p.Asp119Asn) c.277G>A (p.Asp93Asn) n.418G>A | |
16 | g.20349109C>A | CA494097245 | UMOD | c.192G>T (p.Val64=) c.291G>T (p.Val97=) c.339G>T (p.Val113=) c.261G>T (p.Val87=) c.354G>T (p.Val118=) c.276G>T (p.Val92=) n.417G>T | |
16 | g.20349109C>G | CA494097246 | UMOD | c.192G>C (p.Val64=) c.291G>C (p.Val97=) c.339G>C (p.Val113=) c.261G>C (p.Val87=) c.354G>C (p.Val118=) c.276G>C (p.Val92=) n.417G>C | |
16 | g.20349109C>T | CA494097247 | UMOD | c.192G>A (p.Val64=) c.291G>A (p.Val97=) c.339G>A (p.Val113=) c.261G>A (p.Val87=) c.354G>A (p.Val118=) c.276G>A (p.Val92=) n.417G>A | |
16 | g.20349110A>C | CA394987530 | UMOD | c.191T>G (p.Val64Gly) c.290T>G (p.Val97Gly) c.338T>G (p.Val113Gly) c.260T>G (p.Val87Gly) c.353T>G (p.Val118Gly) c.275T>G (p.Val92Gly) n.416T>G | |
16 | g.20349110A>G | CA394987535 | UMOD | c.191T>C (p.Val64Ala) c.290T>C (p.Val97Ala) c.338T>C (p.Val113Ala) c.260T>C (p.Val87Ala) c.353T>C (p.Val118Ala) c.275T>C (p.Val92Ala) n.416T>C | |
16 | g.20349110A>T | CA394987537 | UMOD | c.191T>A (p.Val64Glu) c.290T>A (p.Val97Glu) c.338T>A (p.Val113Glu) c.260T>A (p.Val87Glu) c.353T>A (p.Val118Glu) c.275T>A (p.Val92Glu) n.416T>A | |
16 | g.20349111C>A | CA394987540 | UMOD | c.190G>T (p.Val64Leu) c.289G>T (p.Val97Leu) c.337G>T (p.Val113Leu) c.259G>T (p.Val87Leu) c.352G>T (p.Val118Leu) c.274G>T (p.Val92Leu) n.415G>T | |
16 | g.20349111C= | CA2211943561 | UMOD | c.190G= (p.Val64=) c.289G= (p.Val97=) c.337G= (p.Val113=) c.259G= (p.Val87=) c.352G= (p.Val118=) c.274G= (p.Val92=) n.415G= | |
16 | g.20349111C>G | CA394987542 | UMOD | c.190G>C (p.Val64Leu) c.289G>C (p.Val97Leu) c.337G>C (p.Val113Leu) c.259G>C (p.Val87Leu) c.352G>C (p.Val118Leu) c.274G>C (p.Val92Leu) n.415G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349111C>T | CA394987544 | UMOD | c.190G>A (p.Val64Met) c.289G>A (p.Val97Met) c.337G>A (p.Val113Met) c.259G>A (p.Val87Met) c.352G>A (p.Val118Met) c.274G>A (p.Val92Met) n.415G>A | gnomAD v4 COSMIC COSMIC |
16 | g.20349112G>A | CA494097252 | UMOD | c.189C>T (p.Cys63=) c.288C>T (p.Cys96=) c.336C>T (p.Cys112=) c.258C>T (p.Cys86=) c.351C>T (p.Cys117=) c.273C>T (p.Cys91=) n.414C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349112G>C | CA394987548 | UMOD | c.189C>G (p.Cys63Trp) c.288C>G (p.Cys96Trp) c.336C>G (p.Cys112Trp) c.258C>G (p.Cys86Trp) c.351C>G (p.Cys117Trp) c.273C>G (p.Cys91Trp) n.414C>G | ClinVar dbSNP |
16 | g.20349112G= | CA2211943567 | UMOD | c.189C= (p.Cys63=) c.288C= (p.Cys96=) c.336C= (p.Cys112=) c.258C= (p.Cys86=) c.351C= (p.Cys117=) c.273C= (p.Cys91=) n.414C= | |
16 | g.20349112G>T | CA394987550 | UMOD | c.189C>A (p.Cys63Ter) c.288C>A (p.Cys96Ter) c.336C>A (p.Cys112Ter) c.258C>A (p.Cys86Ter) c.351C>A (p.Cys117Ter) c.273C>A (p.Cys91Ter) n.414C>A | |
16 | g.20349113C>A | CA394987561 | UMOD | c.188G>T (p.Cys63Phe) c.287G>T (p.Cys96Phe) c.335G>T (p.Cys112Phe) c.257G>T (p.Cys86Phe) c.350G>T (p.Cys117Phe) c.272G>T (p.Cys91Phe) n.413G>T | ClinVar |
16 | g.20349113C>G | CA394987575 | UMOD | c.188G>C (p.Cys63Ser) c.287G>C (p.Cys96Ser) c.335G>C (p.Cys112Ser) c.257G>C (p.Cys86Ser) c.350G>C (p.Cys117Ser) c.272G>C (p.Cys91Ser) n.413G>C | |
16 | g.20349113C>T | CA394987584 | UMOD | c.188G>A (p.Cys63Tyr) c.287G>A (p.Cys96Tyr) c.335G>A (p.Cys112Tyr) c.257G>A (p.Cys86Tyr) c.350G>A (p.Cys117Tyr) c.272G>A (p.Cys91Tyr) n.413G>A | |
16 | g.20349114A>C | CA394987587 | UMOD | c.187T>G (p.Cys63Gly) c.286T>G (p.Cys96Gly) c.334T>G (p.Cys112Gly) c.256T>G (p.Cys86Gly) c.349T>G (p.Cys117Gly) c.271T>G (p.Cys91Gly) n.412T>G | |
16 | g.20349114A>G | CA394987595 | UMOD | c.187T>C (p.Cys63Arg) c.286T>C (p.Cys96Arg) c.334T>C (p.Cys112Arg) c.256T>C (p.Cys86Arg) c.349T>C (p.Cys117Arg) c.271T>C (p.Cys91Arg) n.412T>C | |
16 | g.20349114A>T | CA394987590 | UMOD | c.187T>A (p.Cys63Ser) c.286T>A (p.Cys96Ser) c.334T>A (p.Cys112Ser) c.256T>A (p.Cys86Ser) c.349T>A (p.Cys117Ser) c.271T>A (p.Cys91Ser) n.412T>A | |
16 | g.20349115G>A | CA494097257 | UMOD | c.186C>T (p.Thr62=) c.285C>T (p.Thr95=) c.333C>T (p.Thr111=) c.255C>T (p.Thr85=) c.348C>T (p.Thr116=) c.270C>T (p.Thr90=) n.411C>T | |
16 | g.20349115G>C | CA494097259 | UMOD | c.186C>G (p.Thr62=) c.285C>G (p.Thr95=) c.333C>G (p.Thr111=) c.255C>G (p.Thr85=) c.348C>G (p.Thr116=) c.270C>G (p.Thr90=) n.411C>G | |
16 | g.20349115G>T | CA494097261 | UMOD | c.186C>A (p.Thr62=) c.285C>A (p.Thr95=) c.333C>A (p.Thr111=) c.255C>A (p.Thr85=) c.348C>A (p.Thr116=) c.270C>A (p.Thr90=) n.411C>A | |
16 | g.20349116del | CA2575933285 | UMOD | c.186del (p.Cys63AlafsTer22) c.285del (p.Cys96AlafsTer22) c.333del (p.Cys112AlafsTer22) c.255del (p.Cys86AlafsTer22) c.348del (p.Cys117AlafsTer22) c.270del (p.Cys91AlafsTer22) n.411del | |
16 | g.20349116G>A | CA394987598 | UMOD | c.185C>T (p.Thr62Ile) c.284C>T (p.Thr95Ile) c.332C>T (p.Thr111Ile) c.254C>T (p.Thr85Ile) c.347C>T (p.Thr116Ile) c.269C>T (p.Thr90Ile) n.410C>T | dbSNP COSMIC COSMIC |
16 | g.20349116G>C | CA394987604 | UMOD | c.185C>G (p.Thr62Ser) c.284C>G (p.Thr95Ser) c.332C>G (p.Thr111Ser) c.254C>G (p.Thr85Ser) c.347C>G (p.Thr116Ser) c.269C>G (p.Thr90Ser) n.410C>G | |
16 | g.20349116G= | CA2211943572 | UMOD | c.185C= (p.Thr62=) c.284C= (p.Thr95=) c.332C= (p.Thr111=) c.254C= (p.Thr85=) c.347C= (p.Thr116=) c.269C= (p.Thr90=) n.410C= | |
16 | g.20349116G>T | CA394987599 | UMOD | c.185C>A (p.Thr62Asn) c.284C>A (p.Thr95Asn) c.332C>A (p.Thr111Asn) c.254C>A (p.Thr85Asn) c.347C>A (p.Thr116Asn) c.269C>A (p.Thr90Asn) n.410C>A | |
16 | g.20349117T>A | CA394987612 | UMOD | c.184A>T (p.Thr62Ser) c.283A>T (p.Thr95Ser) c.331A>T (p.Thr111Ser) c.253A>T (p.Thr85Ser) c.346A>T (p.Thr116Ser) c.268A>T (p.Thr90Ser) n.409A>T | |
16 | g.20349117T>C | CA394987616 | UMOD | c.184A>G (p.Thr62Ala) c.283A>G (p.Thr95Ala) c.331A>G (p.Thr111Ala) c.253A>G (p.Thr85Ala) c.346A>G (p.Thr116Ala) c.268A>G (p.Thr90Ala) n.409A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349117T>G | CA7939482 | UMOD | c.184A>C (p.Thr62Pro) c.283A>C (p.Thr95Pro) c.331A>C (p.Thr111Pro) c.253A>C (p.Thr85Pro) c.346A>C (p.Thr116Pro) c.268A>C (p.Thr90Pro) n.409A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349117T= | CA2211943576 | UMOD | c.184A= (p.Thr62=) c.283A= (p.Thr95=) c.331A= (p.Thr111=) c.253A= (p.Thr85=) c.346A= (p.Thr116=) c.268A= (p.Thr90=) n.409A= | |
16 | g.20349118C>A | CA494097263 | UMOD | c.183G>T (p.Leu61=) c.282G>T (p.Leu94=) c.330G>T (p.Leu110=) c.252G>T (p.Leu84=) c.345G>T (p.Leu115=) c.267G>T (p.Leu89=) n.408G>T | |
16 | g.20349118C>G | CA494097265 | UMOD | c.183G>C (p.Leu61=) c.282G>C (p.Leu94=) c.330G>C (p.Leu110=) c.252G>C (p.Leu84=) c.345G>C (p.Leu115=) c.267G>C (p.Leu89=) n.408G>C | |
16 | g.20349118C>T | CA494097266 | UMOD | c.183G>A (p.Leu61=) c.282G>A (p.Leu94=) c.330G>A (p.Leu110=) c.252G>A (p.Leu84=) c.345G>A (p.Leu115=) c.267G>A (p.Leu89=) n.408G>A | |
16 | g.20349119A>C | CA394987619 | UMOD | c.182T>G (p.Leu61Arg) c.281T>G (p.Leu94Arg) c.329T>G (p.Leu110Arg) c.251T>G (p.Leu84Arg) c.344T>G (p.Leu115Arg) c.266T>G (p.Leu89Arg) n.407T>G | |
16 | g.20349119A>G | CA394987625 | UMOD | c.182T>C (p.Leu61Pro) c.281T>C (p.Leu94Pro) c.329T>C (p.Leu110Pro) c.251T>C (p.Leu84Pro) c.344T>C (p.Leu115Pro) c.266T>C (p.Leu89Pro) n.407T>C | |
16 | g.20349119A>T | CA394987621 | UMOD | c.182T>A (p.Leu61Gln) c.281T>A (p.Leu94Gln) c.329T>A (p.Leu110Gln) c.251T>A (p.Leu84Gln) c.344T>A (p.Leu115Gln) c.266T>A (p.Leu89Gln) n.407T>A | |
16 | g.20349120G>A | CA494097269 | UMOD | c.181C>T (p.Leu61=) c.280C>T (p.Leu94=) c.328C>T (p.Leu110=) c.250C>T (p.Leu84=) c.343C>T (p.Leu115=) c.265C>T (p.Leu89=) n.406C>T | gnomAD v4 |
16 | g.20349120G>C | CA394987643 | UMOD | c.181C>G (p.Leu61Val) c.280C>G (p.Leu94Val) c.328C>G (p.Leu110Val) c.250C>G (p.Leu84Val) c.343C>G (p.Leu115Val) c.265C>G (p.Leu89Val) n.406C>G | gnomAD v4 |
16 | g.20349120G>T | CA394987645 | UMOD | c.181C>A (p.Leu61Met) c.280C>A (p.Leu94Met) c.328C>A (p.Leu110Met) c.250C>A (p.Leu84Met) c.343C>A (p.Leu115Met) c.265C>A (p.Leu89Met) n.406C>A | COSMIC COSMIC |
16 | g.20349121G>A | CA494097270 | UMOD | c.180C>T (p.Gly60=) c.279C>T (p.Gly93=) c.327C>T (p.Gly109=) c.249C>T (p.Gly83=) c.342C>T (p.Gly114=) c.264C>T (p.Gly88=) n.405C>T | gnomAD v4 |
16 | g.20349121G>C | CA494097271 | UMOD | c.180C>G (p.Gly60=) c.279C>G (p.Gly93=) c.327C>G (p.Gly109=) c.249C>G (p.Gly83=) c.342C>G (p.Gly114=) c.264C>G (p.Gly88=) n.405C>G | |
16 | g.20349121G= | CA2211943581 | UMOD | c.180C= (p.Gly60=) c.279C= (p.Gly93=) c.327C= (p.Gly109=) c.249C= (p.Gly83=) c.342C= (p.Gly114=) c.264C= (p.Gly88=) n.405C= | |
16 | g.20349121G>T | CA494097272 | UMOD | c.180C>A (p.Gly60=) c.279C>A (p.Gly93=) c.327C>A (p.Gly109=) c.249C>A (p.Gly83=) c.342C>A (p.Gly114=) c.264C>A (p.Gly88=) n.405C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349122C>A | CA394987647 | UMOD | c.179G>T (p.Gly60Val) c.278G>T (p.Gly93Val) c.326G>T (p.Gly109Val) c.248G>T (p.Gly83Val) c.341G>T (p.Gly114Val) c.263G>T (p.Gly88Val) n.404G>T | |
16 | g.20349122C>G | CA394987660 | UMOD | c.179G>C (p.Gly60Ala) c.278G>C (p.Gly93Ala) c.326G>C (p.Gly109Ala) c.248G>C (p.Gly83Ala) c.341G>C (p.Gly114Ala) c.263G>C (p.Gly88Ala) n.404G>C | |
16 | g.20349122C>T | CA394987663 | UMOD | c.179G>A (p.Gly60Asp) c.278G>A (p.Gly93Asp) c.326G>A (p.Gly109Asp) c.248G>A (p.Gly83Asp) c.341G>A (p.Gly114Asp) c.263G>A (p.Gly88Asp) n.404G>A | gnomAD v4 |
16 | g.20349123C>A | CA394987688 | UMOD | c.178G>T (p.Gly60Cys) c.277G>T (p.Gly93Cys) c.325G>T (p.Gly109Cys) c.247G>T (p.Gly83Cys) c.340G>T (p.Gly114Cys) c.262G>T (p.Gly88Cys) n.403G>T | |
16 | g.20349123C>G | CA394987702 | UMOD | c.178G>C (p.Gly60Arg) c.277G>C (p.Gly93Arg) c.325G>C (p.Gly109Arg) c.247G>C (p.Gly83Arg) c.340G>C (p.Gly114Arg) c.262G>C (p.Gly88Arg) n.403G>C | |
16 | g.20349123C>T | CA394987708 | UMOD | c.178G>A (p.Gly60Ser) c.277G>A (p.Gly93Ser) c.325G>A (p.Gly109Ser) c.247G>A (p.Gly83Ser) c.340G>A (p.Gly114Ser) c.262G>A (p.Gly88Ser) n.403G>A | |
16 | g.20349124A= | CA2211943582 | UMOD | c.177T= (p.Asp59=) c.276T= (p.Asp92=) c.324T= (p.Asp108=) c.246T= (p.Asp82=) c.339T= (p.Asp113=) c.261T= (p.Asp87=) n.402T= | |
16 | g.20349124A>C | CA394987711 | UMOD | c.177T>G (p.Asp59Glu) c.276T>G (p.Asp92Glu) c.324T>G (p.Asp108Glu) c.246T>G (p.Asp82Glu) c.339T>G (p.Asp113Glu) c.261T>G (p.Asp87Glu) n.402T>G | |
16 | g.20349124A>G | CA494097277 | UMOD | c.177T>C (p.Asp59=) c.276T>C (p.Asp92=) c.324T>C (p.Asp108=) c.246T>C (p.Asp82=) c.339T>C (p.Asp113=) c.261T>C (p.Asp87=) n.402T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349124A>T | CA394987713 | UMOD | c.177T>A (p.Asp59Glu) c.276T>A (p.Asp92Glu) c.324T>A (p.Asp108Glu) c.246T>A (p.Asp82Glu) c.339T>A (p.Asp113Glu) c.261T>A (p.Asp87Glu) n.402T>A | |
16 | g.20349125T>A | CA394987720 | UMOD | c.176A>T (p.Asp59Val) c.275A>T (p.Asp92Val) c.323A>T (p.Asp108Val) c.245A>T (p.Asp82Val) c.338A>T (p.Asp113Val) c.260A>T (p.Asp87Val) n.401A>T | |
16 | g.20349125T>C | CA394987716 | UMOD | c.176A>G (p.Asp59Gly) c.275A>G (p.Asp92Gly) c.323A>G (p.Asp108Gly) c.245A>G (p.Asp82Gly) c.338A>G (p.Asp113Gly) c.260A>G (p.Asp87Gly) n.401A>G | ClinVar |
16 | g.20349125T>G | CA394987719 | UMOD | c.176A>C (p.Asp59Ala) c.275A>C (p.Asp92Ala) c.323A>C (p.Asp108Ala) c.245A>C (p.Asp82Ala) c.338A>C (p.Asp113Ala) c.260A>C (p.Asp87Ala) n.401A>C | |
16 | g.20349126C>A | CA394987722 | UMOD | c.175G>T (p.Asp59Tyr) c.274G>T (p.Asp92Tyr) c.322G>T (p.Asp108Tyr) c.244G>T (p.Asp82Tyr) c.337G>T (p.Asp113Tyr) c.259G>T (p.Asp87Tyr) n.400G>T | ClinVar |
16 | g.20349126C>G | CA394987723 | UMOD | c.175G>C (p.Asp59His) c.274G>C (p.Asp92His) c.322G>C (p.Asp108His) c.244G>C (p.Asp82His) c.337G>C (p.Asp113His) c.259G>C (p.Asp87His) n.400G>C | gnomAD v4 |
16 | g.20349126C>T | CA394987725 | UMOD | c.175G>A (p.Asp59Asn) c.274G>A (p.Asp92Asn) c.322G>A (p.Asp108Asn) c.244G>A (p.Asp82Asn) c.337G>A (p.Asp113Asn) c.259G>A (p.Asp87Asn) n.400G>A | gnomAD v4 COSMIC COSMIC |
16 | g.20349127G>A | CA494097283 | UMOD | c.174C>T (p.Gly58=) c.273C>T (p.Gly91=) c.321C>T (p.Gly107=) c.243C>T (p.Gly81=) c.336C>T (p.Gly112=) c.258C>T (p.Gly86=) n.399C>T | COSMIC COSMIC |
16 | g.20349127G>C | CA494097282 | UMOD | c.174C>G (p.Gly58=) c.273C>G (p.Gly91=) c.321C>G (p.Gly107=) c.243C>G (p.Gly81=) c.336C>G (p.Gly112=) c.258C>G (p.Gly86=) n.399C>G | |
16 | g.20349127G= | CA2211943585 | UMOD | c.174C= (p.Gly58=) c.273C= (p.Gly91=) c.321C= (p.Gly107=) c.243C= (p.Gly81=) c.336C= (p.Gly112=) c.258C= (p.Gly86=) n.399C= | |
16 | g.20349127G>T | CA494097279 | UMOD | c.174C>A (p.Gly58=) c.273C>A (p.Gly91=) c.321C>A (p.Gly107=) c.243C>A (p.Gly81=) c.336C>A (p.Gly112=) c.258C>A (p.Gly86=) n.399C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349128C>A | CA394987729 | UMOD | c.173G>T (p.Gly58Val) c.272G>T (p.Gly91Val) c.320G>T (p.Gly107Val) c.242G>T (p.Gly81Val) c.335G>T (p.Gly112Val) c.257G>T (p.Gly86Val) n.398G>T | gnomAD v4 |
16 | g.20349128C>G | CA394987731 | UMOD | c.173G>C (p.Gly58Ala) c.272G>C (p.Gly91Ala) c.320G>C (p.Gly107Ala) c.242G>C (p.Gly81Ala) c.335G>C (p.Gly112Ala) c.257G>C (p.Gly86Ala) n.398G>C | |
16 | g.20349128C>T | CA394987732 | UMOD | c.173G>A (p.Gly58Asp) c.272G>A (p.Gly91Asp) c.320G>A (p.Gly107Asp) c.242G>A (p.Gly81Asp) c.335G>A (p.Gly112Asp) c.257G>A (p.Gly86Asp) n.398G>A | |
16 | g.20349129C>A | CA394987735 | UMOD | c.172G>T (p.Gly58Cys) c.271G>T (p.Gly91Cys) c.319G>T (p.Gly107Cys) c.241G>T (p.Gly81Cys) c.334G>T (p.Gly112Cys) c.256G>T (p.Gly86Cys) n.397G>T | ClinVar |
16 | g.20349129C= | CA2211943590 | UMOD | c.172G= (p.Gly58=) c.271G= (p.Gly91=) c.319G= (p.Gly107=) c.241G= (p.Gly81=) c.334G= (p.Gly112=) c.256G= (p.Gly86=) n.397G= | |
16 | g.20349129C>G | CA394987738 | UMOD | c.172G>C (p.Gly58Arg) c.271G>C (p.Gly91Arg) c.319G>C (p.Gly107Arg) c.241G>C (p.Gly81Arg) c.334G>C (p.Gly112Arg) c.256G>C (p.Gly86Arg) n.397G>C | |
16 | g.20349129C>T | CA7939483 | UMOD | c.172G>A (p.Gly58Ser) c.271G>A (p.Gly91Ser) c.319G>A (p.Gly107Ser) c.241G>A (p.Gly81Ser) c.334G>A (p.Gly112Ser) c.256G>A (p.Gly86Ser) n.397G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20349130G>A | CA494097294 | UMOD | c.171C>T (p.Thr57=) c.270C>T (p.Thr90=) c.318C>T (p.Thr106=) c.240C>T (p.Thr80=) c.333C>T (p.Thr111=) c.255C>T (p.Thr85=) n.396C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349130G>C | CA494097292 | UMOD | c.171C>G (p.Thr57=) c.270C>G (p.Thr90=) c.318C>G (p.Thr106=) c.240C>G (p.Thr80=) c.333C>G (p.Thr111=) c.255C>G (p.Thr85=) n.396C>G | gnomAD v4 |
16 | g.20349130G= | CA2211943594 | UMOD | c.171C= (p.Thr57=) c.270C= (p.Thr90=) c.318C= (p.Thr106=) c.240C= (p.Thr80=) c.333C= (p.Thr111=) c.255C= (p.Thr85=) n.396C= | |
16 | g.20349130G>T | CA494097289 | UMOD | c.171C>A (p.Thr57=) c.270C>A (p.Thr90=) c.318C>A (p.Thr106=) c.240C>A (p.Thr80=) c.333C>A (p.Thr111=) c.255C>A (p.Thr85=) n.396C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20349131G>A | CA394987744 | UMOD | c.170C>T (p.Thr57Ile) c.269C>T (p.Thr90Ile) c.317C>T (p.Thr106Ile) c.239C>T (p.Thr80Ile) c.332C>T (p.Thr111Ile) c.254C>T (p.Thr85Ile) n.395C>T | |
16 | g.20349131G>C | CA394987747 | UMOD | c.170C>G (p.Thr57Ser) c.269C>G (p.Thr90Ser) c.317C>G (p.Thr106Ser) c.239C>G (p.Thr80Ser) c.332C>G (p.Thr111Ser) c.254C>G (p.Thr85Ser) n.395C>G | |
16 | g.20349131G>T | CA394987742 | UMOD | c.170C>A (p.Thr57Asn) c.269C>A (p.Thr90Asn) c.317C>A (p.Thr106Asn) c.239C>A (p.Thr80Asn) c.332C>A (p.Thr111Asn) c.254C>A (p.Thr85Asn) n.395C>A | |
16 | g.20349132T>A | CA394987750 | UMOD | c.169A>T (p.Thr57Ser) c.268A>T (p.Thr90Ser) c.316A>T (p.Thr106Ser) c.238A>T (p.Thr80Ser) c.331A>T (p.Thr111Ser) c.253A>T (p.Thr85Ser) n.394A>T | |
16 | g.20349132T>C | CA394987752 | UMOD | c.169A>G (p.Thr57Ala) c.268A>G (p.Thr90Ala) c.316A>G (p.Thr106Ala) c.238A>G (p.Thr80Ala) c.331A>G (p.Thr111Ala) c.253A>G (p.Thr85Ala) n.394A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349132T>G | CA394987755 | UMOD | c.169A>C (p.Thr57Pro) c.268A>C (p.Thr90Pro) c.316A>C (p.Thr106Pro) c.238A>C (p.Thr80Pro) c.331A>C (p.Thr111Pro) c.253A>C (p.Thr85Pro) n.394A>C | |
16 | g.20349132T= | CA2211943596 | UMOD | c.169A= (p.Thr57=) c.268A= (p.Thr90=) c.316A= (p.Thr106=) c.238A= (p.Thr80=) c.331A= (p.Thr111=) c.253A= (p.Thr85=) n.394A= | |
16 | g.20349133G>A | CA494097300 | UMOD | c.168C>T (p.Phe56=) c.267C>T (p.Phe89=) c.315C>T (p.Phe105=) c.237C>T (p.Phe79=) c.330C>T (p.Phe110=) c.252C>T (p.Phe84=) n.393C>T | |
16 | g.20349133G>C | CA394987757 | UMOD | c.168C>G (p.Phe56Leu) c.267C>G (p.Phe89Leu) c.315C>G (p.Phe105Leu) c.237C>G (p.Phe79Leu) c.330C>G (p.Phe110Leu) c.252C>G (p.Phe84Leu) n.393C>G | |
16 | g.20349133G>T | CA394987759 | UMOD | c.168C>A (p.Phe56Leu) c.267C>A (p.Phe89Leu) c.315C>A (p.Phe105Leu) c.237C>A (p.Phe79Leu) c.330C>A (p.Phe110Leu) c.252C>A (p.Phe84Leu) n.393C>A | |
16 | g.20349134A>C | CA394987761 | UMOD | c.167T>G (p.Phe56Cys) c.266T>G (p.Phe89Cys) c.314T>G (p.Phe105Cys) c.236T>G (p.Phe79Cys) c.329T>G (p.Phe110Cys) c.251T>G (p.Phe84Cys) n.392T>G | |
16 | g.20349134A>G | CA394987763 | UMOD | c.167T>C (p.Phe56Ser) c.266T>C (p.Phe89Ser) c.314T>C (p.Phe105Ser) c.236T>C (p.Phe79Ser) c.329T>C (p.Phe110Ser) c.251T>C (p.Phe84Ser) n.392T>C | |
16 | g.20349134A>T | CA394987765 | UMOD | c.167T>A (p.Phe56Tyr) c.266T>A (p.Phe89Tyr) c.314T>A (p.Phe105Tyr) c.236T>A (p.Phe79Tyr) c.329T>A (p.Phe110Tyr) c.251T>A (p.Phe84Tyr) n.392T>A | |
16 | g.20349135A>C | CA394987768 | UMOD | c.166T>G (p.Phe56Val) c.265T>G (p.Phe89Val) c.313T>G (p.Phe105Val) c.235T>G (p.Phe79Val) c.328T>G (p.Phe110Val) c.250T>G (p.Phe84Val) n.391T>G | |
16 | g.20349135A>G | CA394987770 | UMOD | c.166T>C (p.Phe56Leu) c.265T>C (p.Phe89Leu) c.313T>C (p.Phe105Leu) c.235T>C (p.Phe79Leu) c.328T>C (p.Phe110Leu) c.250T>C (p.Phe84Leu) n.391T>C | gnomAD v4 |
16 | g.20349135A>T | CA394987772 | UMOD | c.166T>A (p.Phe56Ile) c.265T>A (p.Phe89Ile) c.313T>A (p.Phe105Ile) c.235T>A (p.Phe79Ile) c.328T>A (p.Phe110Ile) c.250T>A (p.Phe84Ile) n.391T>A | |
16 | g.20349136G>A | CA494097306 | UMOD | c.165C>T (p.Gly55=) c.264C>T (p.Gly88=) c.312C>T (p.Gly104=) c.234C>T (p.Gly78=) c.327C>T (p.Gly109=) c.249C>T (p.Gly83=) n.390C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.20349136G>C | CA494097307 | UMOD | c.165C>G (p.Gly55=) c.264C>G (p.Gly88=) c.312C>G (p.Gly104=) c.234C>G (p.Gly78=) c.327C>G (p.Gly109=) c.249C>G (p.Gly83=) n.390C>G | |
16 | g.20349136G= | CA2211943599 | UMOD | c.165C= (p.Gly55=) c.264C= (p.Gly88=) c.312C= (p.Gly104=) c.234C= (p.Gly78=) c.327C= (p.Gly109=) c.249C= (p.Gly83=) n.390C= | |
16 | g.20349136G>T | CA494097309 | UMOD | c.165C>A (p.Gly55=) c.264C>A (p.Gly88=) c.312C>A (p.Gly104=) c.234C>A (p.Gly78=) c.327C>A (p.Gly109=) c.249C>A (p.Gly83=) n.390C>A | |
16 | g.20349137C>A | CA394987778 | UMOD | c.164G>T (p.Gly55Val) c.263G>T (p.Gly88Val) c.311G>T (p.Gly104Val) c.233G>T (p.Gly78Val) c.326G>T (p.Gly109Val) c.248G>T (p.Gly83Val) n.389G>T | |
16 | g.20349137C>G | CA394987776 | UMOD | c.164G>C (p.Gly55Ala) c.263G>C (p.Gly88Ala) c.311G>C (p.Gly104Ala) c.233G>C (p.Gly78Ala) c.326G>C (p.Gly109Ala) c.248G>C (p.Gly83Ala) n.389G>C | |
16 | g.20349137C>T | CA394987774 | UMOD | c.164G>A (p.Gly55Asp) c.263G>A (p.Gly88Asp) c.311G>A (p.Gly104Asp) c.233G>A (p.Gly78Asp) c.326G>A (p.Gly109Asp) c.248G>A (p.Gly83Asp) n.389G>A | gnomAD v4 |
16 | g.20349138C>A | CA394987782 | UMOD | c.163G>T (p.Gly55Cys) c.262G>T (p.Gly88Cys) c.310G>T (p.Gly104Cys) c.232G>T (p.Gly78Cys) c.325G>T (p.Gly109Cys) c.247G>T (p.Gly83Cys) n.388G>T | |
16 | g.20349138C>G | CA394987783 | UMOD | c.163G>C (p.Gly55Arg) c.262G>C (p.Gly88Arg) c.310G>C (p.Gly104Arg) c.232G>C (p.Gly78Arg) c.325G>C (p.Gly109Arg) c.247G>C (p.Gly83Arg) n.388G>C | |
16 | g.20349138C>T | CA394987784 | UMOD | c.163G>A (p.Gly55Ser) c.262G>A (p.Gly88Ser) c.310G>A (p.Gly104Ser) c.232G>A (p.Gly78Ser) c.325G>A (p.Gly109Ser) c.247G>A (p.Gly83Ser) n.388G>A | |
16 | g.20349139C>A | CA394987786 | UMOD | c.162G>T (p.Glu54Asp) c.261G>T (p.Glu87Asp) c.309G>T (p.Glu103Asp) c.231G>T (p.Glu77Asp) c.324G>T (p.Glu108Asp) c.246G>T (p.Glu82Asp) n.387G>T | |
16 | g.20349139C>G | CA394987788 | UMOD | c.162G>C (p.Glu54Asp) c.261G>C (p.Glu87Asp) c.309G>C (p.Glu103Asp) c.231G>C (p.Glu77Asp) c.324G>C (p.Glu108Asp) c.246G>C (p.Glu82Asp) n.387G>C | |
16 | g.20349139C>T | CA494097313 | UMOD | c.162G>A (p.Glu54=) c.261G>A (p.Glu87=) c.309G>A (p.Glu103=) c.231G>A (p.Glu77=) c.324G>A (p.Glu108=) c.246G>A (p.Glu82=) n.387G>A | gnomAD v4 |
16 | g.20349140T>A | CA394987792 | UMOD | c.161A>T (p.Glu54Val) c.260A>T (p.Glu87Val) c.308A>T (p.Glu103Val) c.230A>T (p.Glu77Val) c.323A>T (p.Glu108Val) c.245A>T (p.Glu82Val) n.386A>T | |
16 | g.20349140T>C | CA394987794 | UMOD | c.161A>G (p.Glu54Gly) c.260A>G (p.Glu87Gly) c.308A>G (p.Glu103Gly) c.230A>G (p.Glu77Gly) c.323A>G (p.Glu108Gly) c.245A>G (p.Glu82Gly) n.386A>G | |
16 | g.20349140T>G | CA394987796 | UMOD | c.161A>C (p.Glu54Ala) c.260A>C (p.Glu87Ala) c.308A>C (p.Glu103Ala) c.230A>C (p.Glu77Ala) c.323A>C (p.Glu108Ala) c.245A>C (p.Glu82Ala) n.386A>C | gnomAD v4 |
16 | g.20349141C>A | CA394987798 | UMOD | c.160G>T (p.Glu54Ter) c.259G>T (p.Glu87Ter) c.307G>T (p.Glu103Ter) c.229G>T (p.Glu77Ter) c.322G>T (p.Glu108Ter) c.244G>T (p.Glu82Ter) n.385G>T | |
16 | g.20349141C= | CA2211943602 | UMOD | c.160G= (p.Glu54=) c.259G= (p.Glu87=) c.307G= (p.Glu103=) c.229G= (p.Glu77=) c.322G= (p.Glu108=) c.244G= (p.Glu82=) n.385G= | |
16 | g.20349141C>G | CA394987800 | UMOD | c.160G>C (p.Glu54Gln) c.259G>C (p.Glu87Gln) c.307G>C (p.Glu103Gln) c.229G>C (p.Glu77Gln) c.322G>C (p.Glu108Gln) c.244G>C (p.Glu82Gln) n.385G>C | dbSNP gnomAD v2 |
16 | g.20349141C>T | CA394987802 | UMOD | c.160G>A (p.Glu54Lys) c.259G>A (p.Glu87Lys) c.307G>A (p.Glu103Lys) c.229G>A (p.Glu77Lys) c.322G>A (p.Glu108Lys) c.244G>A (p.Glu82Lys) n.385G>A | COSMIC COSMIC |
16 | g.20349142C>A | CA394987804 | UMOD | c.159G>T (p.Gln53His) c.258G>T (p.Gln86His) c.306G>T (p.Gln102His) c.228G>T (p.Gln76His) c.321G>T (p.Gln107His) c.243G>T (p.Gln81His) n.384G>T | |
16 | g.20349142C>G | CA394987807 | UMOD | c.159G>C (p.Gln53His) c.258G>C (p.Gln86His) c.306G>C (p.Gln102His) c.228G>C (p.Gln76His) c.321G>C (p.Gln107His) c.243G>C (p.Gln81His) n.384G>C | |
16 | g.20349142C>T | CA494097317 | UMOD | c.159G>A (p.Gln53=) c.258G>A (p.Gln86=) c.306G>A (p.Gln102=) c.228G>A (p.Gln76=) c.321G>A (p.Gln107=) c.243G>A (p.Gln81=) n.384G>A | |
16 | g.20349143T>A | CA394987810 | UMOD | c.158A>T (p.Gln53Leu) c.257A>T (p.Gln86Leu) c.305A>T (p.Gln102Leu) c.227A>T (p.Gln76Leu) c.320A>T (p.Gln107Leu) c.242A>T (p.Gln81Leu) n.383A>T | |
16 | g.20349143T>C | CA394987812 | UMOD | c.158A>G (p.Gln53Arg) c.257A>G (p.Gln86Arg) c.305A>G (p.Gln102Arg) c.227A>G (p.Gln76Arg) c.320A>G (p.Gln107Arg) c.242A>G (p.Gln81Arg) n.383A>G | |
16 | g.20349143T>G | CA394987809 | UMOD | c.158A>C (p.Gln53Pro) c.257A>C (p.Gln86Pro) c.305A>C (p.Gln102Pro) c.227A>C (p.Gln76Pro) c.320A>C (p.Gln107Pro) c.242A>C (p.Gln81Pro) n.383A>C | |
16 | g.20349144G>A | CA394987820 | UMOD | c.157C>T (p.Gln53Ter) c.256C>T (p.Gln86Ter) c.304C>T (p.Gln102Ter) c.226C>T (p.Gln76Ter) c.319C>T (p.Gln107Ter) c.241C>T (p.Gln81Ter) n.382C>T | |
16 | g.20349144G>C | CA394987815 | UMOD | c.157C>G (p.Gln53Glu) c.256C>G (p.Gln86Glu) c.304C>G (p.Gln102Glu) c.226C>G (p.Gln76Glu) c.319C>G (p.Gln107Glu) c.241C>G (p.Gln81Glu) n.382C>G | |
16 | g.20349144G= | CA2211943604 | UMOD | c.157C= (p.Gln53=) c.256C= (p.Gln86=) c.304C= (p.Gln102=) c.226C= (p.Gln76=) c.319C= (p.Gln107=) c.241C= (p.Gln81=) n.382C= | |
16 | g.20349144G>T | CA394987817 | UMOD | c.157C>A (p.Gln53Lys) c.256C>A (p.Gln86Lys) c.304C>A (p.Gln102Lys) c.226C>A (p.Gln76Lys) c.319C>A (p.Gln107Lys) c.241C>A (p.Gln81Lys) n.382C>A | dbSNP |
16 | g.20349145A= | CA2211943607 | UMOD | c.156T= (p.Cys52=) c.255T= (p.Cys85=) c.303T= (p.Cys101=) c.225T= (p.Cys75=) c.318T= (p.Cys106=) c.240T= (p.Cys80=) n.381T= | |
16 | g.20349145A>C | CA394987822 | UMOD | c.156T>G (p.Cys52Trp) c.255T>G (p.Cys85Trp) c.303T>G (p.Cys101Trp) c.225T>G (p.Cys75Trp) c.318T>G (p.Cys106Trp) c.240T>G (p.Cys80Trp) n.381T>G | |
16 | g.20349145A>G | CA7939484 | UMOD | c.156T>C (p.Cys52=) c.255T>C (p.Cys85=) c.303T>C (p.Cys101=) c.225T>C (p.Cys75=) c.318T>C (p.Cys106=) c.240T>C (p.Cys80=) n.381T>C | dbSNP ExAC gnomAD v4 |
16 | g.20349145A>T | CA394987829 | UMOD | c.156T>A (p.Cys52Ter) c.255T>A (p.Cys85Ter) c.303T>A (p.Cys101Ter) c.225T>A (p.Cys75Ter) c.318T>A (p.Cys106Ter) c.240T>A (p.Cys80Ter) n.381T>A | |
16 | g.20349146C>A | CA394987832 | UMOD | c.155G>T (p.Cys52Phe) c.254G>T (p.Cys85Phe) c.302G>T (p.Cys101Phe) c.224G>T (p.Cys75Phe) c.317G>T (p.Cys106Phe) c.239G>T (p.Cys80Phe) n.380G>T | ClinVar dbSNP |
16 | g.20349146C>G | CA394987833 | UMOD | c.155G>C (p.Cys52Ser) c.254G>C (p.Cys85Ser) c.302G>C (p.Cys101Ser) c.224G>C (p.Cys75Ser) c.317G>C (p.Cys106Ser) c.239G>C (p.Cys80Ser) n.380G>C | |
16 | g.20349146C>T | CA394987834 | UMOD | c.155G>A (p.Cys52Tyr) c.254G>A (p.Cys85Tyr) c.302G>A (p.Cys101Tyr) c.224G>A (p.Cys75Tyr) c.317G>A (p.Cys106Tyr) c.239G>A (p.Cys80Tyr) n.380G>A | |
16 | g.20349147A>C | CA394987836 | UMOD | c.154T>G (p.Cys52Gly) c.253T>G (p.Cys85Gly) c.301T>G (p.Cys101Gly) c.223T>G (p.Cys75Gly) c.316T>G (p.Cys106Gly) c.238T>G (p.Cys80Gly) n.379T>G | |
16 | g.20349147A>G | CA394987838 | UMOD | c.154T>C (p.Cys52Arg) c.253T>C (p.Cys85Arg) c.301T>C (p.Cys101Arg) c.223T>C (p.Cys75Arg) c.316T>C (p.Cys106Arg) c.238T>C (p.Cys80Arg) n.379T>C | |
16 | g.20349147A>T | CA394987841 | UMOD | c.154T>A (p.Cys52Ser) c.253T>A (p.Cys85Ser) c.301T>A (p.Cys101Ser) c.223T>A (p.Cys75Ser) c.316T>A (p.Cys106Ser) c.238T>A (p.Cys80Ser) n.379T>A |