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 |
|---|---|---|---|---|---|
| 1 | g.77933286_77933292delinsTAGATGA | CA1177626662 | NEXN | c.1058_1064delinsTAGATGA (p.Val353=) c.866_872delinsTAGATGA (p.Val289=) c.757_763delinsTAGATGA c.1016_1022delinsTAGATGA (p.Val339=) n.518_524delinsTAGATGA n.632_638delinsTAGATGA c.824_830delinsTAGATGA (p.Val275=) c.641_647delinsTAGATGA (p.Val214=) | |
| 1 | g.77933287_77933292del | CA524231365 | NEXN | c.1059_1064del (p.Asp354_Asp355del) c.867_872del (p.Asp290_Asp291del) c.758_763del c.1017_1022del (p.Asp340_Asp341del) n.519_524del n.633_638del c.825_830del (p.Asp276_Asp277del) c.642_647del (p.Asp215_Asp216del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77933291G>A | CA340876519 | NEXN | c.1063G>A (p.Asp355Asn) c.871G>A (p.Asp291Asn) c.762G>A c.1021G>A (p.Asp341Asn) n.523G>A n.637G>A c.829G>A (p.Asp277Asn) c.646G>A (p.Asp216Asn) | |
| 1 | g.77933291G>C | CA340876521 | NEXN | c.1063G>C (p.Asp355His) c.871G>C (p.Asp291His) c.762G>C c.1021G>C (p.Asp341His) n.523G>C n.637G>C c.829G>C (p.Asp277His) c.646G>C (p.Asp216His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77933291G= | CA1177626666 | NEXN | c.1063G= (p.Asp355=) c.871G= (p.Asp291=) c.762G= c.1021G= (p.Asp341=) n.523G= n.637G= c.829G= (p.Asp277=) c.646G= (p.Asp216=) | |
| 1 | g.77933291G>T | CA340876518 | NEXN | c.1063G>T (p.Asp355Tyr) c.871G>T (p.Asp291Tyr) c.762G>T c.1021G>T (p.Asp341Tyr) n.523G>T n.637G>T c.829G>T (p.Asp277Tyr) c.646G>T (p.Asp216Tyr) | gnomAD v4 |
| 1 | g.77933291_77933299dup | CA2646274518 | NEXN | c.1063_1071dup (p.Ser357_Pro358insAspAspSer) c.871_879dup (p.Ser293_Pro294insAspAspSer) c.762_770dup c.1021_1029dup (p.Ser343_Pro344insAspAspSer) n.523_531dup n.637_645dup c.829_837dup (p.Ser279_Pro280insAspAspSer) c.646_654dup (p.Ser218_Pro219insAspAspSer) | gnomAD v4 |
| 1 | g.77933292A= | CA1177626669 | NEXN | c.1064A= (p.Asp355=) c.872A= (p.Asp291=) c.763A= c.1022A= (p.Asp341=) n.524A= n.638A= c.830A= (p.Asp277=) c.647A= (p.Asp216=) | |
| 1 | g.77933292A>C | CA340876523 | NEXN | c.1064A>C (p.Asp355Ala) c.872A>C (p.Asp291Ala) c.763A>C c.1022A>C (p.Asp341Ala) n.524A>C n.638A>C c.830A>C (p.Asp277Ala) c.647A>C (p.Asp216Ala) | dbSNP |
| 1 | g.77933292A>G | CA340876525 | NEXN | c.1064A>G (p.Asp355Gly) c.872A>G (p.Asp291Gly) c.763A>G c.1022A>G (p.Asp341Gly) n.524A>G n.638A>G c.830A>G (p.Asp277Gly) c.647A>G (p.Asp216Gly) | ClinVar |
| 1 | g.77933292A>T | CA340876528 | NEXN | c.1064A>T (p.Asp355Val) c.872A>T (p.Asp291Val) c.763A>T c.1022A>T (p.Asp341Val) n.524A>T n.638A>T c.830A>T (p.Asp277Val) c.647A>T (p.Asp216Val) | |
| 1 | g.77933293T>A | CA340876531 | NEXN | c.1065T>A (p.Asp355Glu) c.873T>A (p.Asp291Glu) c.764T>A c.1023T>A (p.Asp341Glu) n.525T>A n.639T>A c.831T>A (p.Asp277Glu) c.648T>A (p.Asp216Glu) | |
| 1 | g.77933293T>C | CA177488 | NEXN | c.1065T>C (p.Asp355=) c.873T>C (p.Asp291=) c.764T>C c.1023T>C (p.Asp341=) n.525T>C n.639T>C c.831T>C (p.Asp277=) c.648T>C (p.Asp216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77933293T>G | CA340876535 | NEXN | c.1065T>G (p.Asp355Glu) c.873T>G (p.Asp291Glu) c.764T>G c.1023T>G (p.Asp341Glu) n.525T>G n.639T>G c.831T>G (p.Asp277Glu) c.648T>G (p.Asp216Glu) | |
| 1 | g.77933293T= | CA1143694066 | NEXN | c.1065T= (p.Asp355=) c.873T= (p.Asp291=) c.764T= c.1023T= (p.Asp341=) n.525T= n.639T= c.831T= (p.Asp277=) c.648T= (p.Asp216=) | |
| 1 | g.77933294G>A | CA340876537 | NEXN | c.1066G>A (p.Asp356Asn) c.874G>A (p.Asp292Asn) c.765G>A c.1024G>A (p.Asp342Asn) n.526G>A n.640G>A c.832G>A (p.Asp278Asn) c.649G>A (p.Asp217Asn) | COSMIC COSMIC |
| 1 | g.77933294G>C | CA340876539 | NEXN | c.1066G>C (p.Asp356His) c.874G>C (p.Asp292His) c.765G>C c.1024G>C (p.Asp342His) n.526G>C n.640G>C c.832G>C (p.Asp278His) c.649G>C (p.Asp217His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77933294G= | CA1177626673 | NEXN | c.1066G= (p.Asp356=) c.874G= (p.Asp292=) c.765G= c.1024G= (p.Asp342=) n.526G= n.640G= c.832G= (p.Asp278=) c.649G= (p.Asp217=) | |
| 1 | g.77933294G>T | CA340876541 | NEXN | c.1066G>T (p.Asp356Tyr) c.874G>T (p.Asp292Tyr) c.765G>T c.1024G>T (p.Asp342Tyr) n.526G>T n.640G>T c.832G>T (p.Asp278Tyr) c.649G>T (p.Asp217Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77933295A>C | CA340876544 | NEXN | c.1067A>C (p.Asp356Ala) c.875A>C (p.Asp292Ala) c.766A>C c.1025A>C (p.Asp342Ala) n.527A>C n.641A>C c.833A>C (p.Asp278Ala) c.650A>C (p.Asp217Ala) | |
| 1 | g.77933295A>G | CA340876546 | NEXN | c.1067A>G (p.Asp356Gly) c.875A>G (p.Asp292Gly) c.766A>G c.1025A>G (p.Asp342Gly) n.527A>G n.641A>G c.833A>G (p.Asp278Gly) c.650A>G (p.Asp217Gly) | |
| 1 | g.77933295A>T | CA340876548 | NEXN | c.1067A>T (p.Asp356Val) c.875A>T (p.Asp292Val) c.766A>T c.1025A>T (p.Asp342Val) n.527A>T n.641A>T c.833A>T (p.Asp278Val) c.650A>T (p.Asp217Val) | |
| 1 | g.77933296C>A | CA340876551 | NEXN | c.1068C>A (p.Asp356Glu) c.876C>A (p.Asp292Glu) c.767C>A c.1026C>A (p.Asp342Glu) n.528C>A n.642C>A c.834C>A (p.Asp278Glu) c.651C>A (p.Asp217Glu) | gnomAD v4 |
| 1 | g.77933296C= | CA1177626675 | NEXN | c.1068C= (p.Asp356=) c.876C= (p.Asp292=) c.767C= c.1026C= (p.Asp342=) n.528C= n.642C= c.834C= (p.Asp278=) c.651C= (p.Asp217=) | |
| 1 | g.77933296C>G | CA340876549 | NEXN | c.1068C>G (p.Asp356Glu) c.876C>G (p.Asp292Glu) c.767C>G c.1026C>G (p.Asp342Glu) n.528C>G n.642C>G c.834C>G (p.Asp278Glu) c.651C>G (p.Asp217Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77933296C>T | CA418572038 | NEXN | c.1068C>T (p.Asp356=) c.876C>T (p.Asp292=) c.767C>T c.1026C>T (p.Asp342=) n.528C>T n.642C>T c.834C>T (p.Asp278=) c.651C>T (p.Asp217=) | |
| 1 | g.77933297T>A | CA340876553 | NEXN | c.1069T>A (p.Ser357Thr) c.877T>A (p.Ser293Thr) c.768T>A c.1027T>A (p.Ser343Thr) n.529T>A n.643T>A c.835T>A (p.Ser279Thr) c.652T>A (p.Ser218Thr) | |
| 1 | g.77933297T>C | CA340876557 | NEXN | c.1069T>C (p.Ser357Pro) c.877T>C (p.Ser293Pro) c.768T>C c.1027T>C (p.Ser343Pro) n.529T>C n.643T>C c.835T>C (p.Ser279Pro) c.652T>C (p.Ser218Pro) | COSMIC COSMIC |
| 1 | g.77933297T>G | CA340876558 | NEXN | c.1069T>G (p.Ser357Ala) c.877T>G (p.Ser293Ala) c.768T>G c.1027T>G (p.Ser343Ala) n.529T>G n.643T>G c.835T>G (p.Ser279Ala) c.652T>G (p.Ser218Ala) | |
| 1 | g.77933298C>A | CA340876561 | NEXN | c.1070C>A (p.Ser357Tyr) c.878C>A (p.Ser293Tyr) c.769C>A c.1028C>A (p.Ser343Tyr) n.530C>A n.644C>A c.836C>A (p.Ser279Tyr) c.653C>A (p.Ser218Tyr) | gnomAD v4 |
| 1 | g.77933298C= | CA1177626676 | NEXN | c.1070C= (p.Ser357=) c.878C= (p.Ser293=) c.769C= c.1028C= (p.Ser343=) n.530C= n.644C= c.836C= (p.Ser279=) c.653C= (p.Ser218=) | |
| 1 | g.77933298C>G | CA340876563 | NEXN | c.1070C>G (p.Ser357Cys) c.878C>G (p.Ser293Cys) c.769C>G c.1028C>G (p.Ser343Cys) n.530C>G n.644C>G c.836C>G (p.Ser279Cys) c.653C>G (p.Ser218Cys) | |
| 1 | g.77933298C>T | CA918800 | NEXN | c.1070C>T (p.Ser357Phe) c.878C>T (p.Ser293Phe) c.769C>T c.1028C>T (p.Ser343Phe) n.530C>T n.644C>T c.836C>T (p.Ser279Phe) c.653C>T (p.Ser218Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77933299C>A | CA418572039 | NEXN | c.1071C>A (p.Ser357=) c.879C>A (p.Ser293=) c.770C>A c.1029C>A (p.Ser343=) n.531C>A n.645C>A c.837C>A (p.Ser279=) c.654C>A (p.Ser218=) | |
| 1 | g.77933299C= | CA1177626678 | NEXN | c.1071C= (p.Ser357=) c.879C= (p.Ser293=) c.770C= c.1029C= (p.Ser343=) n.531C= n.645C= c.837C= (p.Ser279=) c.654C= (p.Ser218=) | |
| 1 | g.77933299C>G | CA418572040 | NEXN | c.1071C>G (p.Ser357=) c.879C>G (p.Ser293=) c.770C>G c.1029C>G (p.Ser343=) n.531C>G n.645C>G c.837C>G (p.Ser279=) c.654C>G (p.Ser218=) | |
| 1 | g.77933299C>T | CA418572041 | NEXN | c.1071C>T (p.Ser357=) c.879C>T (p.Ser293=) c.770C>T c.1029C>T (p.Ser343=) n.531C>T n.645C>T c.837C>T (p.Ser279=) c.654C>T (p.Ser218=) | |
| 1 | g.77933299_77933300insTTT | CA24684091 | NEXN | c.1071_1072insTTT (p.Ser357_Pro358insPhe) c.879_880insTTT (p.Ser293_Pro294insPhe) c.770_771insTTT c.1029_1030insTTT (p.Ser343_Pro344insPhe) n.531_532insTTT n.645_646insTTT c.837_838insTTT (p.Ser279_Pro280insPhe) c.654_655insTTT (p.Ser218_Pro219insPhe) | dbSNP |
| 1 | g.77933300C>A | CA340876565 | NEXN | c.1072C>A (p.Pro358Thr) c.880C>A (p.Pro294Thr) c.771C>A c.1030C>A (p.Pro344Thr) n.532C>A n.646C>A c.838C>A (p.Pro280Thr) c.655C>A (p.Pro219Thr) | |
| 1 | g.77933300C= | CA1177626680 | NEXN | c.1072C= (p.Pro358=) c.880C= (p.Pro294=) c.771C= c.1030C= (p.Pro344=) n.532C= n.646C= c.838C= (p.Pro280=) c.655C= (p.Pro219=) | |
| 1 | g.77933300C>G | CA340876566 | NEXN | c.1072C>G (p.Pro358Ala) c.880C>G (p.Pro294Ala) c.771C>G c.1030C>G (p.Pro344Ala) n.532C>G n.646C>G c.838C>G (p.Pro280Ala) c.655C>G (p.Pro219Ala) | |
| 1 | g.77933300C>T | CA24684103 | NEXN | c.1072C>T (p.Pro358Ser) c.880C>T (p.Pro294Ser) c.771C>T c.1030C>T (p.Pro344Ser) n.532C>T n.646C>T c.838C>T (p.Pro280Ser) c.655C>T (p.Pro219Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77933301C>A | CA340876569 | NEXN | c.1073C>A (p.Pro358Gln) c.881C>A (p.Pro294Gln) c.772C>A c.1031C>A (p.Pro344Gln) n.533C>A n.647C>A c.839C>A (p.Pro280Gln) c.656C>A (p.Pro219Gln) | |
| 1 | g.77933301C= | CA1177626682 | NEXN | c.1073C= (p.Pro358=) c.881C= (p.Pro294=) c.772C= c.1031C= (p.Pro344=) n.533C= n.647C= c.839C= (p.Pro280=) c.656C= (p.Pro219=) | |
| 1 | g.77933301C>G | CA340876571 | NEXN | c.1073C>G (p.Pro358Arg) c.881C>G (p.Pro294Arg) c.772C>G c.1031C>G (p.Pro344Arg) n.533C>G n.647C>G c.839C>G (p.Pro280Arg) c.656C>G (p.Pro219Arg) | |
| 1 | g.77933301C>T | CA918801 | NEXN | c.1073C>T (p.Pro358Leu) c.881C>T (p.Pro294Leu) c.772C>T c.1031C>T (p.Pro344Leu) n.533C>T n.647C>T c.839C>T (p.Pro280Leu) c.656C>T (p.Pro219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77933302A>C | CA418572042 | NEXN | c.1074A>C (p.Pro358=) c.882A>C (p.Pro294=) c.773A>C c.1032A>C (p.Pro344=) n.534A>C n.648A>C c.840A>C (p.Pro280=) c.657A>C (p.Pro219=) | |
| 1 | g.77933302A>G | CA418572043 | NEXN | c.1074A>G (p.Pro358=) c.882A>G (p.Pro294=) c.773A>G c.1032A>G (p.Pro344=) n.534A>G n.648A>G c.840A>G (p.Pro280=) c.657A>G (p.Pro219=) | |
| 1 | g.77933302A>T | CA418572044 | NEXN | c.1074A>T (p.Pro358=) c.882A>T (p.Pro294=) c.773A>T c.1032A>T (p.Pro344=) n.534A>T n.648A>T c.840A>T (p.Pro280=) c.657A>T (p.Pro219=) | |
| 1 | g.77933303G>A | CA340876579 | NEXN | c.1075G>A (p.Glu359Lys) c.883G>A (p.Glu295Lys) c.774G>A c.1033G>A (p.Glu345Lys) n.535G>A n.649G>A c.841G>A (p.Glu281Lys) c.658G>A (p.Glu220Lys) |