WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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 |