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.77926864G>A | CA918742 | NEXN | c.836G>A (p.Arg279His) c.644G>A (p.Arg215His) c.535G>A c.794G>A (p.Arg265His) n.296G>A c.602G>A (p.Arg201His) c.448-2452G>A (n.448-2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77926864G>C | CA340874549 | NEXN | c.836G>C (p.Arg279Pro) c.644G>C (p.Arg215Pro) c.535G>C c.794G>C (p.Arg265Pro) n.296G>C c.602G>C (p.Arg201Pro) c.448-2452G>C (n.448-2452G>C) | gnomAD v4 |
| 1 | g.77926864G= | CA1177623838 | NEXN | c.836G= (p.Arg279=) c.644G= (p.Arg215=) c.535G= c.794G= (p.Arg265=) n.296G= c.602G= (p.Arg201=) c.448-2452G= (n.448-2452G=) | |
| 1 | g.77926864G>T | CA340874552 | NEXN | c.836G>T (p.Arg279Leu) c.644G>T (p.Arg215Leu) c.535G>T c.794G>T (p.Arg265Leu) n.296G>T c.602G>T (p.Arg201Leu) c.448-2452G>T (n.448-2452G>T) | |
| 1 | g.77926865T>A | CA418709328 | NEXN | c.837T>A (p.Arg279=) c.645T>A (p.Arg215=) c.536T>A c.795T>A (p.Arg265=) n.297T>A c.603T>A (p.Arg201=) c.448-2451T>A (n.448-2451T>A) | |
| 1 | g.77926865T>C | CA418709329 | NEXN | c.837T>C (p.Arg279=) c.645T>C (p.Arg215=) c.536T>C c.795T>C (p.Arg265=) n.297T>C c.603T>C (p.Arg201=) c.448-2451T>C (n.448-2451T>C) | |
| 1 | g.77926865T>G | CA418709330 | NEXN | c.837T>G (p.Arg279=) c.645T>G (p.Arg215=) c.536T>G c.795T>G (p.Arg265=) n.297T>G c.603T>G (p.Arg201=) c.448-2451T>G (n.448-2451T>G) | |
| 1 | g.77926866G>A | CA340874553 | NEXN | c.838G>A (p.Ala280Thr) c.646G>A (p.Ala216Thr) c.537G>A c.796G>A (p.Ala266Thr) n.298G>A c.604G>A (p.Ala202Thr) c.448-2450G>A (n.448-2450G>A) | dbSNP |
| 1 | g.77926866G>C | CA340874556 | NEXN | c.838G>C (p.Ala280Pro) c.646G>C (p.Ala216Pro) c.537G>C c.796G>C (p.Ala266Pro) n.298G>C c.604G>C (p.Ala202Pro) c.448-2450G>C (n.448-2450G>C) | |
| 1 | g.77926866G= | CA1177623839 | NEXN | c.838G= (p.Ala280=) c.646G= (p.Ala216=) c.537G= c.796G= (p.Ala266=) n.298G= c.604G= (p.Ala202=) c.448-2450G= (n.448-2450G=) | |
| 1 | g.77926866G>T | CA340874560 | NEXN | c.838G>T (p.Ala280Ser) c.646G>T (p.Ala216Ser) c.537G>T c.796G>T (p.Ala266Ser) n.298G>T c.604G>T (p.Ala202Ser) c.448-2450G>T (n.448-2450G>T) | |
| 1 | g.77926867C>A | CA340874582 | NEXN | c.839C>A (p.Ala280Asp) c.647C>A (p.Ala216Asp) c.538C>A c.797C>A (p.Ala266Asp) n.299C>A c.605C>A (p.Ala202Asp) c.448-2449C>A (n.448-2449C>A) | |
| 1 | g.77926867C= | CA1177623840 | NEXN | c.839C= (p.Ala280=) c.647C= (p.Ala216=) c.538C= c.797C= (p.Ala266=) n.299C= c.605C= (p.Ala202=) c.448-2449C= (n.448-2449C=) | |
| 1 | g.77926867C>G | CA918743 | NEXN | c.839C>G (p.Ala280Gly) c.647C>G (p.Ala216Gly) c.538C>G c.797C>G (p.Ala266Gly) n.299C>G c.605C>G (p.Ala202Gly) c.448-2449C>G (n.448-2449C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77926867C>T | CA340874563 | NEXN | c.839C>T (p.Ala280Val) c.647C>T (p.Ala216Val) c.538C>T c.797C>T (p.Ala266Val) n.299C>T c.605C>T (p.Ala202Val) c.448-2449C>T (n.448-2449C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77926868T>A | CA418709331 | NEXN | c.840T>A (p.Ala280=) c.648T>A (p.Ala216=) c.539T>A c.798T>A (p.Ala266=) n.300T>A c.606T>A (p.Ala202=) c.448-2448T>A (n.448-2448T>A) | |
| 1 | g.77926868T>C | CA418709333 | NEXN | c.840T>C (p.Ala280=) c.648T>C (p.Ala216=) c.539T>C c.798T>C (p.Ala266=) n.300T>C c.606T>C (p.Ala202=) c.448-2448T>C (n.448-2448T>C) | gnomAD v4 |
| 1 | g.77926868T>G | CA418709332 | NEXN | c.840T>G (p.Ala280=) c.648T>G (p.Ala216=) c.539T>G c.798T>G (p.Ala266=) n.300T>G c.606T>G (p.Ala202=) c.448-2448T>G (n.448-2448T>G) | |
| 1 | g.77926869T>A | CA340874591 | NEXN | c.841T>A (p.Phe281Ile) c.649T>A (p.Phe217Ile) c.540T>A c.799T>A (p.Phe267Ile) n.301T>A c.607T>A (p.Phe203Ile) c.448-2447T>A (n.448-2447T>A) | |
| 1 | g.77926869T>C | CA340874593 | NEXN | c.841T>C (p.Phe281Leu) c.649T>C (p.Phe217Leu) c.540T>C c.799T>C (p.Phe267Leu) n.301T>C c.607T>C (p.Phe203Leu) c.448-2447T>C (n.448-2447T>C) | |
| 1 | g.77926869T>G | CA340874595 | NEXN | c.841T>G (p.Phe281Val) c.649T>G (p.Phe217Val) c.540T>G c.799T>G (p.Phe267Val) n.301T>G c.607T>G (p.Phe203Val) c.448-2447T>G (n.448-2447T>G) | |
| 1 | g.77926870T>A | CA340874599 | NEXN | c.842T>A (p.Phe281Tyr) c.650T>A (p.Phe217Tyr) c.541T>A c.800T>A (p.Phe267Tyr) n.302T>A c.608T>A (p.Phe203Tyr) c.448-2446T>A (n.448-2446T>A) | |
| 1 | g.77926870T>C | CA340874608 | NEXN | c.842T>C (p.Phe281Ser) c.650T>C (p.Phe217Ser) c.541T>C c.800T>C (p.Phe267Ser) n.302T>C c.608T>C (p.Phe203Ser) c.448-2446T>C (n.448-2446T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77926870T>G | CA340874611 | NEXN | c.842T>G (p.Phe281Cys) c.650T>G (p.Phe217Cys) c.541T>G c.800T>G (p.Phe267Cys) n.302T>G c.608T>G (p.Phe203Cys) c.448-2446T>G (n.448-2446T>G) | |
| 1 | g.77926870T= | CA1177623841 | NEXN | c.842T= (p.Phe281=) c.650T= (p.Phe217=) c.541T= c.800T= (p.Phe267=) n.302T= c.608T= (p.Phe203=) c.448-2446T= (n.448-2446T=) | |
| 1 | g.77926871T>A | CA340874631 | NEXN | c.843T>A (p.Phe281Leu) c.651T>A (p.Phe217Leu) c.542T>A c.801T>A (p.Phe267Leu) n.303T>A c.609T>A (p.Phe203Leu) c.448-2445T>A (n.448-2445T>A) | |
| 1 | g.77926871T>C | CA418709334 | NEXN | c.843T>C (p.Phe281=) c.651T>C (p.Phe217=) c.542T>C c.801T>C (p.Phe267=) n.303T>C c.609T>C (p.Phe203=) c.448-2445T>C (n.448-2445T>C) | |
| 1 | g.77926871T>G | CA340874634 | NEXN | c.843T>G (p.Phe281Leu) c.651T>G (p.Phe217Leu) c.542T>G c.801T>G (p.Phe267Leu) n.303T>G c.609T>G (p.Phe203Leu) c.448-2445T>G (n.448-2445T>G) | |
| 1 | g.77926872G>A | CA340874637 | NEXN | c.844G>A (p.Glu282Lys) c.652G>A (p.Glu218Lys) c.543G>A c.802G>A (p.Glu268Lys) n.304G>A c.610G>A (p.Glu204Lys) c.448-2444G>A (n.448-2444G>A) | |
| 1 | g.77926872G>C | CA340874639 | NEXN | c.844G>C (p.Glu282Gln) c.652G>C (p.Glu218Gln) c.543G>C c.802G>C (p.Glu268Gln) n.304G>C c.610G>C (p.Glu204Gln) c.448-2444G>C (n.448-2444G>C) | |
| 1 | g.77926872G>T | CA340874640 | NEXN | c.844G>T (p.Glu282Ter) c.652G>T (p.Glu218Ter) c.543G>T c.802G>T (p.Glu268Ter) n.304G>T c.610G>T (p.Glu204Ter) c.448-2444G>T (n.448-2444G>T) | |
| 1 | g.77926873A>C | CA340874643 | NEXN | c.845A>C (p.Glu282Ala) c.653A>C (p.Glu218Ala) c.544A>C c.803A>C (p.Glu268Ala) n.305A>C c.611A>C (p.Glu204Ala) c.448-2443A>C (n.448-2443A>C) | |
| 1 | g.77926873A>G | CA340874646 | NEXN | c.845A>G (p.Glu282Gly) c.653A>G (p.Glu218Gly) c.544A>G c.803A>G (p.Glu268Gly) n.305A>G c.611A>G (p.Glu204Gly) c.448-2443A>G (n.448-2443A>G) | |
| 1 | g.77926873A>T | CA340874648 | NEXN | c.845A>T (p.Glu282Val) c.653A>T (p.Glu218Val) c.544A>T c.803A>T (p.Glu268Val) n.305A>T c.611A>T (p.Glu204Val) c.448-2443A>T (n.448-2443A>T) | |
| 1 | g.77926874A= | CA1177623842 | NEXN | c.846A= (p.Glu282=) c.654A= (p.Glu218=) c.545A= c.804A= (p.Glu268=) n.306A= c.612A= (p.Glu204=) c.448-2442A= (n.448-2442A=) | |
| 1 | g.77926874A>C | CA340874650 | NEXN | c.846A>C (p.Glu282Asp) c.654A>C (p.Glu218Asp) c.545A>C c.804A>C (p.Glu268Asp) n.306A>C c.612A>C (p.Glu204Asp) c.448-2442A>C (n.448-2442A>C) | |
| 1 | g.77926874A>G | CA418709335 | NEXN | c.846A>G (p.Glu282=) c.654A>G (p.Glu218=) c.545A>G c.804A>G (p.Glu268=) n.306A>G c.612A>G (p.Glu204=) c.448-2442A>G (n.448-2442A>G) | dbSNP gnomAD v2 |
| 1 | g.77926874A>T | CA340874652 | NEXN | c.846A>T (p.Glu282Asp) c.654A>T (p.Glu218Asp) c.545A>T c.804A>T (p.Glu268Asp) n.306A>T c.612A>T (p.Glu204Asp) c.448-2442A>T (n.448-2442A>T) | |
| 1 | g.77926875G>A | CA340874656 | NEXN | c.847G>A (p.Glu283Lys) c.655G>A (p.Glu219Lys) c.546G>A c.805G>A (p.Glu269Lys) n.307G>A c.613G>A (p.Glu205Lys) c.448-2441G>A (n.448-2441G>A) | |
| 1 | g.77926875G>C | CA340874658 | NEXN | c.847G>C (p.Glu283Gln) c.655G>C (p.Glu219Gln) c.546G>C c.805G>C (p.Glu269Gln) n.307G>C c.613G>C (p.Glu205Gln) c.448-2441G>C (n.448-2441G>C) | |
| 1 | g.77926875G>T | CA340874657 | NEXN | c.847G>T (p.Glu283Ter) c.655G>T (p.Glu219Ter) c.546G>T c.805G>T (p.Glu269Ter) n.307G>T c.613G>T (p.Glu205Ter) c.448-2441G>T (n.448-2441G>T) | |
| 1 | g.77926876A= | CA1144011265 | NEXN | c.848A= (p.Glu283=) c.656A= (p.Glu219=) c.547A= c.806A= (p.Glu269=) n.308A= c.614A= (p.Glu205=) c.448-2440A= (n.448-2440A=) | |
| 1 | g.77926876A>C | CA340874659 | NEXN | c.848A>C (p.Glu283Ala) c.656A>C (p.Glu219Ala) c.547A>C c.806A>C (p.Glu269Ala) n.308A>C c.614A>C (p.Glu205Ala) c.448-2440A>C (n.448-2440A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77926876A>G | CA340874660 | NEXN | c.848A>G (p.Glu283Gly) c.656A>G (p.Glu219Gly) c.547A>G c.806A>G (p.Glu269Gly) n.308A>G c.614A>G (p.Glu205Gly) c.448-2440A>G (n.448-2440A>G) | COSMIC COSMIC |
| 1 | g.77926876A>T | CA918744 | NEXN | c.848A>T (p.Glu283Val) c.656A>T (p.Glu219Val) c.547A>T c.806A>T (p.Glu269Val) n.308A>T c.614A>T (p.Glu205Val) c.448-2440A>T (n.448-2440A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77926877A>C | CA340874662 | NEXN | c.849A>C (p.Glu283Asp) c.657A>C (p.Glu219Asp) c.548A>C c.807A>C (p.Glu269Asp) n.309A>C c.615A>C (p.Glu205Asp) c.448-2439A>C (n.448-2439A>C) | gnomAD v4 |
| 1 | g.77926877A>G | CA418709336 | NEXN | c.849A>G (p.Glu283=) c.657A>G (p.Glu219=) c.548A>G c.807A>G (p.Glu269=) n.309A>G c.615A>G (p.Glu205=) c.448-2439A>G (n.448-2439A>G) | |
| 1 | g.77926877A>T | CA340874663 | NEXN | c.849A>T (p.Glu283Asp) c.657A>T (p.Glu219Asp) c.548A>T c.807A>T (p.Glu269Asp) n.309A>T c.615A>T (p.Glu205Asp) c.448-2439A>T (n.448-2439A>T) | |
| 1 | g.77926878G>A | CA340874665 | NEXN | c.850G>A (p.Ala284Thr) c.658G>A (p.Ala220Thr) c.549G>A c.808G>A (p.Ala270Thr) n.310G>A c.616G>A (p.Ala206Thr) c.448-2438G>A (n.448-2438G>A) | |
| 1 | g.77926878G>C | CA340874667 | NEXN | c.850G>C (p.Ala284Pro) c.658G>C (p.Ala220Pro) c.549G>C c.808G>C (p.Ala270Pro) n.310G>C c.616G>C (p.Ala206Pro) c.448-2438G>C (n.448-2438G>C) |