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.77929307_77929343del | CA2740090536 | NEXN | c.865-9_892del c.673-9_700del c.564-9_591del c.823-9_850del n.325-9_352del c.631-9_658del c.448-9_475del | ClinVar |
| 1 | g.77929325G>A | CA335460 | NEXN | c.874G>A (p.Asp292Asn) c.682G>A (p.Asp228Asn) c.573G>A c.832G>A (p.Asp278Asn) n.334G>A c.640G>A (p.Asp214Asn) c.457G>A (p.Asp153Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77929325G>C | CA340874992 | NEXN | c.874G>C (p.Asp292His) c.682G>C (p.Asp228His) c.573G>C c.832G>C (p.Asp278His) n.334G>C c.640G>C (p.Asp214His) c.457G>C (p.Asp153His) | |
| 1 | g.77929325G= | CA1143924394 | NEXN | c.874G= (p.Asp292=) c.682G= (p.Asp228=) c.573G= c.832G= (p.Asp278=) n.334G= c.640G= (p.Asp214=) c.457G= (p.Asp153=) | |
| 1 | g.77929325G>T | CA340874993 | NEXN | c.874G>T (p.Asp292Tyr) c.682G>T (p.Asp228Tyr) c.573G>T c.832G>T (p.Asp278Tyr) n.334G>T c.640G>T (p.Asp214Tyr) c.457G>T (p.Asp153Tyr) | |
| 1 | g.77929326A= | CA1177624806 | NEXN | c.875A= (p.Asp292=) c.683A= (p.Asp228=) c.574A= c.833A= (p.Asp278=) n.335A= c.641A= (p.Asp214=) c.458A= (p.Asp153=) | |
| 1 | g.77929326A>C | CA340874994 | NEXN | c.875A>C (p.Asp292Ala) c.683A>C (p.Asp228Ala) c.574A>C c.833A>C (p.Asp278Ala) n.335A>C c.641A>C (p.Asp214Ala) c.458A>C (p.Asp153Ala) | |
| 1 | g.77929326A>G | CA918772 | NEXN | c.875A>G (p.Asp292Gly) c.683A>G (p.Asp228Gly) c.574A>G c.833A>G (p.Asp278Gly) n.335A>G c.641A>G (p.Asp214Gly) c.458A>G (p.Asp153Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77929326A>T | CA340874995 | NEXN | c.875A>T (p.Asp292Val) c.683A>T (p.Asp228Val) c.574A>T c.833A>T (p.Asp278Val) n.335A>T c.641A>T (p.Asp214Val) c.458A>T (p.Asp153Val) | |
| 1 | g.77929327T>A | CA340874996 | NEXN | c.876T>A (p.Asp292Glu) c.684T>A (p.Asp228Glu) c.575T>A c.834T>A (p.Asp278Glu) n.336T>A c.642T>A (p.Asp214Glu) c.459T>A (p.Asp153Glu) | gnomAD v4 |
| 1 | g.77929327T>C | CA418571837 | NEXN | c.876T>C (p.Asp292=) c.684T>C (p.Asp228=) c.575T>C c.834T>C (p.Asp278=) n.336T>C c.642T>C (p.Asp214=) c.459T>C (p.Asp153=) | dbSNP |
| 1 | g.77929327T>G | CA340874997 | NEXN | c.876T>G (p.Asp292Glu) c.684T>G (p.Asp228Glu) c.575T>G c.834T>G (p.Asp278Glu) n.336T>G c.642T>G (p.Asp214Glu) c.459T>G (p.Asp153Glu) | |
| 1 | g.77929328G>A | CA340874998 | NEXN | c.877G>A (p.Glu293Lys) c.685G>A (p.Glu229Lys) c.576G>A c.835G>A (p.Glu279Lys) n.337G>A c.643G>A (p.Glu215Lys) c.460G>A (p.Glu154Lys) | gnomAD v4 |
| 1 | g.77929328G>C | CA340874999 | NEXN | c.877G>C (p.Glu293Gln) c.685G>C (p.Glu229Gln) c.576G>C c.835G>C (p.Glu279Gln) n.337G>C c.643G>C (p.Glu215Gln) c.460G>C (p.Glu154Gln) | |
| 1 | g.77929328G>T | CA340875000 | NEXN | c.877G>T (p.Glu293Ter) c.685G>T (p.Glu229Ter) c.576G>T c.835G>T (p.Glu279Ter) n.337G>T c.643G>T (p.Glu215Ter) c.460G>T (p.Glu154Ter) | |
| 1 | g.77929329A>C | CA340875002 | NEXN | c.878A>C (p.Glu293Ala) c.686A>C (p.Glu229Ala) c.577A>C c.836A>C (p.Glu279Ala) n.338A>C c.644A>C (p.Glu215Ala) c.461A>C (p.Glu154Ala) | |
| 1 | g.77929329A>G | CA340875003 | NEXN | c.878A>G (p.Glu293Gly) c.686A>G (p.Glu229Gly) c.577A>G c.836A>G (p.Glu279Gly) n.338A>G c.644A>G (p.Glu215Gly) c.461A>G (p.Glu154Gly) | |
| 1 | g.77929329A>T | CA340875001 | NEXN | c.878A>T (p.Glu293Val) c.686A>T (p.Glu229Val) c.577A>T c.836A>T (p.Glu279Val) n.338A>T c.644A>T (p.Glu215Val) c.461A>T (p.Glu154Val) | COSMIC |
| 1 | g.77929330G>A | CA418571839 | NEXN | c.879G>A (p.Glu293=) c.687G>A (p.Glu229=) c.578G>A c.837G>A (p.Glu279=) n.339G>A c.645G>A (p.Glu215=) c.462G>A (p.Glu154=) | |
| 1 | g.77929330G>C | CA340875004 | NEXN | c.879G>C (p.Glu293Asp) c.687G>C (p.Glu229Asp) c.578G>C c.837G>C (p.Glu279Asp) n.339G>C c.645G>C (p.Glu215Asp) c.462G>C (p.Glu154Asp) | |
| 1 | g.77929330G>T | CA340875005 | NEXN | c.879G>T (p.Glu293Asp) c.687G>T (p.Glu229Asp) c.578G>T c.837G>T (p.Glu279Asp) n.339G>T c.645G>T (p.Glu215Asp) c.462G>T (p.Glu154Asp) | |
| 1 | g.77929331G>A | CA340875006 | NEXN | c.880G>A (p.Glu294Lys) c.688G>A (p.Glu230Lys) c.579G>A c.838G>A (p.Glu280Lys) n.340G>A c.646G>A (p.Glu216Lys) c.463G>A (p.Glu155Lys) | |
| 1 | g.77929331G>C | CA340875007 | NEXN | c.880G>C (p.Glu294Gln) c.688G>C (p.Glu230Gln) c.579G>C c.838G>C (p.Glu280Gln) n.340G>C c.646G>C (p.Glu216Gln) c.463G>C (p.Glu155Gln) | |
| 1 | g.77929331G>T | CA340875008 | NEXN | c.880G>T (p.Glu294Ter) c.688G>T (p.Glu230Ter) c.579G>T c.838G>T (p.Glu280Ter) n.340G>T c.646G>T (p.Glu216Ter) c.463G>T (p.Glu155Ter) | COSMIC |
| 1 | g.77929332A>C | CA340875009 | NEXN | c.881A>C (p.Glu294Ala) c.689A>C (p.Glu230Ala) c.580A>C c.839A>C (p.Glu280Ala) n.341A>C c.647A>C (p.Glu216Ala) c.464A>C (p.Glu155Ala) | |
| 1 | g.77929332A>G | CA340875010 | NEXN | c.881A>G (p.Glu294Gly) c.689A>G (p.Glu230Gly) c.580A>G c.839A>G (p.Glu280Gly) n.341A>G c.647A>G (p.Glu216Gly) c.464A>G (p.Glu155Gly) | |
| 1 | g.77929332A>T | CA340875011 | NEXN | c.881A>T (p.Glu294Val) c.689A>T (p.Glu230Val) c.580A>T c.839A>T (p.Glu280Val) n.341A>T c.647A>T (p.Glu216Val) c.464A>T (p.Glu155Val) | |
| 1 | g.77929333A>C | CA340875012 | NEXN | c.882A>C (p.Glu294Asp) c.690A>C (p.Glu230Asp) c.581A>C c.840A>C (p.Glu280Asp) n.342A>C c.648A>C (p.Glu216Asp) c.465A>C (p.Glu155Asp) | |
| 1 | g.77929333A>G | CA418571840 | NEXN | c.882A>G (p.Glu294=) c.690A>G (p.Glu230=) c.581A>G c.840A>G (p.Glu280=) n.342A>G c.648A>G (p.Glu216=) c.465A>G (p.Glu155=) | |
| 1 | g.77929333A>T | CA340875013 | NEXN | c.882A>T (p.Glu294Asp) c.690A>T (p.Glu230Asp) c.581A>T c.840A>T (p.Glu280Asp) n.342A>T c.648A>T (p.Glu216Asp) c.465A>T (p.Glu155Asp) | |
| 1 | g.77929334A>C | CA340875014 | NEXN | c.883A>C (p.Asn295His) c.691A>C (p.Asn231His) c.582A>C c.841A>C (p.Asn281His) n.343A>C c.649A>C (p.Asn217His) c.466A>C (p.Asn156His) | |
| 1 | g.77929334A>G | CA340875015 | NEXN | c.883A>G (p.Asn295Asp) c.691A>G (p.Asn231Asp) c.582A>G c.841A>G (p.Asn281Asp) n.343A>G c.649A>G (p.Asn217Asp) c.466A>G (p.Asn156Asp) | |
| 1 | g.77929334A>T | CA340875016 | NEXN | c.883A>T (p.Asn295Tyr) c.691A>T (p.Asn231Tyr) c.582A>T c.841A>T (p.Asn281Tyr) n.343A>T c.649A>T (p.Asn217Tyr) c.466A>T (p.Asn156Tyr) | gnomAD v4 |
| 1 | g.77929335A>C | CA340875019 | NEXN | c.884A>C (p.Asn295Thr) c.692A>C (p.Asn231Thr) c.583A>C c.842A>C (p.Asn281Thr) n.344A>C c.650A>C (p.Asn217Thr) c.467A>C (p.Asn156Thr) | |
| 1 | g.77929335A>G | CA340875018 | NEXN | c.884A>G (p.Asn295Ser) c.692A>G (p.Asn231Ser) c.583A>G c.842A>G (p.Asn281Ser) n.344A>G c.650A>G (p.Asn217Ser) c.467A>G (p.Asn156Ser) | |
| 1 | g.77929335A>T | CA340875017 | NEXN | c.884A>T (p.Asn295Ile) c.692A>T (p.Asn231Ile) c.583A>T c.842A>T (p.Asn281Ile) n.344A>T c.650A>T (p.Asn217Ile) c.467A>T (p.Asn156Ile) | |
| 1 | g.77929336C>A | CA340875020 | NEXN | c.885C>A (p.Asn295Lys) c.693C>A (p.Asn231Lys) c.584C>A c.843C>A (p.Asn281Lys) n.345C>A c.651C>A (p.Asn217Lys) c.468C>A (p.Asn156Lys) | |
| 1 | g.77929336C>G | CA340875021 | NEXN | c.885C>G (p.Asn295Lys) c.693C>G (p.Asn231Lys) c.584C>G c.843C>G (p.Asn281Lys) n.345C>G c.651C>G (p.Asn217Lys) c.468C>G (p.Asn156Lys) | |
| 1 | g.77929336C>T | CA418571841 | NEXN | c.885C>T (p.Asn295=) c.693C>T (p.Asn231=) c.584C>T c.843C>T (p.Asn281=) n.345C>T c.651C>T (p.Asn217=) c.468C>T (p.Asn156=) | |
| 1 | g.77929337C>A | CA340875022 | NEXN | c.886C>A (p.Gln296Lys) c.694C>A (p.Gln232Lys) c.585C>A c.844C>A (p.Gln282Lys) n.346C>A c.652C>A (p.Gln218Lys) c.469C>A (p.Gln157Lys) | gnomAD v4 |
| 1 | g.77929337C= | CA1149123699 | NEXN | c.886C= (p.Gln296=) c.694C= (p.Gln232=) c.585C= c.844C= (p.Gln282=) n.346C= c.652C= (p.Gln218=) c.469C= (p.Gln157=) | |
| 1 | g.77929337C>G | CA918773 | NEXN | c.886C>G (p.Gln296Glu) c.694C>G (p.Gln232Glu) c.585C>G c.844C>G (p.Gln282Glu) n.346C>G c.652C>G (p.Gln218Glu) c.469C>G (p.Gln157Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77929337C>T | CA340875023 | NEXN | c.886C>T (p.Gln296Ter) c.694C>T (p.Gln232Ter) c.585C>T c.844C>T (p.Gln282Ter) n.346C>T c.652C>T (p.Gln218Ter) c.469C>T (p.Gln157Ter) | |
| 1 | g.77929338A>C | CA340875024 | NEXN | c.887A>C (p.Gln296Pro) c.695A>C (p.Gln232Pro) c.586A>C c.845A>C (p.Gln282Pro) n.347A>C c.653A>C (p.Gln218Pro) c.470A>C (p.Gln157Pro) | |
| 1 | g.77929338A>G | CA340875025 | NEXN | c.887A>G (p.Gln296Arg) c.695A>G (p.Gln232Arg) c.586A>G c.845A>G (p.Gln282Arg) n.347A>G c.653A>G (p.Gln218Arg) c.470A>G (p.Gln157Arg) | gnomAD v4 |
| 1 | g.77929338A>T | CA340875026 | NEXN | c.887A>T (p.Gln296Leu) c.695A>T (p.Gln232Leu) c.586A>T c.845A>T (p.Gln282Leu) n.347A>T c.653A>T (p.Gln218Leu) c.470A>T (p.Gln157Leu) | |
| 1 | g.77929338_77929343dup | CA2646304879 | NEXN | c.887_892dup (p.Asp297_Thr298insLysAsp) c.695_700dup (p.Asp233_Thr234insLysAsp) c.586_591dup c.845_850dup (p.Asp283_Thr284insLysAsp) n.347_352dup c.653_658dup (p.Asp219_Thr220insLysAsp) c.470_475dup (p.Asp158_Thr159insLysAsp) | dbSNP gnomAD v4 |
| 1 | g.77929339A>C | CA340875027 | NEXN | c.888A>C (p.Gln296His) c.696A>C (p.Gln232His) c.587A>C c.846A>C (p.Gln282His) n.348A>C c.654A>C (p.Gln218His) c.471A>C (p.Gln157His) | |
| 1 | g.77929339A>G | CA418571843 | NEXN | c.888A>G (p.Gln296=) c.696A>G (p.Gln232=) c.587A>G c.846A>G (p.Gln282=) n.348A>G c.654A>G (p.Gln218=) c.471A>G (p.Gln157=) | |
| 1 | g.77929339A>T | CA340875028 | NEXN | c.888A>T (p.Gln296His) c.696A>T (p.Gln232His) c.587A>T c.846A>T (p.Gln282His) n.348A>T c.654A>T (p.Gln218His) c.471A>T (p.Gln157His) |