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 |
|---|---|---|---|---|---|
| 9 | g.83975471C>A | CA373929684 | HNRNPK | c.248G>T (p.Gly83Val) c.214-882G>T (n.214-882G>T) n.300G>T | |
| 9 | g.83975471C= | CA1860331185 | HNRNPK | c.248G= (p.Gly83=) c.214-882G= (n.214-882G=) n.300G= | |
| 9 | g.83975471C>G | CA373929688 | HNRNPK | c.248G>C (p.Gly83Ala) c.214-882G>C (n.214-882G>C) n.300G>C | |
| 9 | g.83975471C>T | CA16618863 | HNRNPK | c.248G>A (p.Gly83Asp) c.214-882G>A (n.214-882G>A) n.300G>A | ClinVar dbSNP |
| 9 | g.83975472C>A | CA373929702 | HNRNPK | c.247G>T (p.Gly83Cys) c.214-883G>T (n.214-883G>T) n.299G>T | |
| 9 | g.83975472C>G | CA373929704 | HNRNPK | c.247G>C (p.Gly83Arg) c.214-883G>C (n.214-883G>C) n.299G>C | |
| 9 | g.83975472C>T | CA373929711 | HNRNPK | c.247G>A (p.Gly83Ser) c.214-883G>A (n.214-883G>A) n.299G>A | |
| 9 | g.83975473A>C | CA373929720 | HNRNPK | c.246T>G (p.Ser82Arg) c.214-884T>G (n.214-884T>G) n.298T>G | |
| 9 | g.83975473A>G | CA465715851 | HNRNPK | c.246T>C (p.Ser82=) c.214-884T>C (n.214-884T>C) n.298T>C | |
| 9 | g.83975473A>T | CA373929726 | HNRNPK | c.246T>A (p.Ser82Arg) c.214-884T>A (n.214-884T>A) n.298T>A | |
| 9 | g.83975474C>A | CA373929745 | HNRNPK | c.245G>T (p.Ser82Ile) c.214-885G>T (n.214-885G>T) n.297G>T | |
| 9 | g.83975474C>G | CA373929737 | HNRNPK | c.245G>C (p.Ser82Thr) c.214-885G>C (n.214-885G>C) n.297G>C | |
| 9 | g.83975474C>T | CA373929733 | HNRNPK | c.245G>A (p.Ser82Asn) c.214-885G>A (n.214-885G>A) n.297G>A | |
| 9 | g.83975477_83975479del | CA2739269334 | HNRNPK | c.243_245del (p.Ser82del) c.214-887_214-885del (n.214-887_214-885del) n.295_297del | ClinVar |
| 9 | g.83975475T>A | CA373929750 | HNRNPK | c.244A>T (p.Ser82Cys) c.214-886A>T (n.214-886A>T) n.296A>T | |
| 9 | g.83975475T>C | CA373929754 | HNRNPK | c.244A>G (p.Ser82Gly) c.214-886A>G (n.214-886A>G) n.296A>G | |
| 9 | g.83975475T>G | CA373929759 | HNRNPK | c.244A>C (p.Ser82Arg) c.214-886A>C (n.214-886A>C) n.296A>C | |
| 9 | g.83975476G>A | CA195467561 | HNRNPK | c.243C>T (p.Ser81=) c.214-887C>T (n.214-887C>T) n.295C>T | dbSNP |
| 9 | g.83975476G>C | CA373929763 | HNRNPK | c.243C>G (p.Ser81Arg) c.214-887C>G (n.214-887C>G) n.295C>G | |
| 9 | g.83975476G= | CA1860331189 | HNRNPK | c.243C= (p.Ser81=) c.214-887C= (n.214-887C=) n.295C= | |
| 9 | g.83975476G>T | CA373929764 | HNRNPK | c.243C>A (p.Ser81Arg) c.214-887C>A (n.214-887C>A) n.295C>A | |
| 9 | g.83975477C>A | CA373929767 | HNRNPK | c.242G>T (p.Ser81Ile) c.214-888G>T (n.214-888G>T) n.294G>T | |
| 9 | g.83975477C>G | CA373929782 | HNRNPK | c.242G>C (p.Ser81Thr) c.214-888G>C (n.214-888G>C) n.294G>C | |
| 9 | g.83975477C>T | CA373929785 | HNRNPK | c.242G>A (p.Ser81Asn) c.214-888G>A (n.214-888G>A) n.294G>A | COSMIC COSMIC COSMIC |
| 9 | g.83975478T>A | CA373929787 | HNRNPK | c.241A>T (p.Ser81Cys) c.214-889A>T (n.214-889A>T) n.293A>T | |
| 9 | g.83975478T>C | CA373929788 | HNRNPK | c.241A>G (p.Ser81Gly) c.214-889A>G (n.214-889A>G) n.293A>G | |
| 9 | g.83975478T>G | CA373929789 | HNRNPK | c.241A>C (p.Ser81Arg) c.214-889A>C (n.214-889A>C) n.293A>C | |
| 9 | g.83975479G>A | CA465715852 | HNRNPK | c.240C>T (p.Asp80=) c.214-890C>T (n.214-890C>T) n.292C>T | |
| 9 | g.83975479G>C | CA373929797 | HNRNPK | c.240C>G (p.Asp80Glu) c.214-890C>G (n.214-890C>G) n.292C>G | |
| 9 | g.83975479G>T | CA373929794 | HNRNPK | c.240C>A (p.Asp80Glu) c.214-890C>A (n.214-890C>A) n.292C>A | |
| 9 | g.83975480T>A | CA373929798 | HNRNPK | c.239A>T (p.Asp80Val) c.214-891A>T (n.214-891A>T) n.291A>T | |
| 9 | g.83975480T>C | CA373929799 | HNRNPK | c.239A>G (p.Asp80Gly) c.214-891A>G (n.214-891A>G) n.291A>G | |
| 9 | g.83975480T>G | CA373929800 | HNRNPK | c.239A>C (p.Asp80Ala) c.214-891A>C (n.214-891A>C) n.291A>C | |
| 9 | g.83975481C>A | CA373929805 | HNRNPK | c.238G>T (p.Asp80Tyr) c.214-892G>T (n.214-892G>T) n.290G>T | |
| 9 | g.83975481C>G | CA373929809 | HNRNPK | c.238G>C (p.Asp80His) c.214-892G>C (n.214-892G>C) n.290G>C | |
| 9 | g.83975481C>T | CA373929813 | HNRNPK | c.238G>A (p.Asp80Asn) c.214-892G>A (n.214-892G>A) n.290G>A | |
| 9 | g.83975482T>A | CA465715855 | HNRNPK | c.237A>T (p.Pro79=) c.214-893A>T (n.214-893A>T) n.289A>T | |
| 9 | g.83975482T>C | CA465715853 | HNRNPK | c.237A>G (p.Pro79=) c.214-893A>G (n.214-893A>G) n.289A>G | |
| 9 | g.83975482T>G | CA465715854 | HNRNPK | c.237A>C (p.Pro79=) c.214-893A>C (n.214-893A>C) n.289A>C | |
| 9 | g.83975483G>A | CA373929828 | HNRNPK | c.236C>T (p.Pro79Leu) c.214-894C>T (n.214-894C>T) n.288C>T | |
| 9 | g.83975483G>C | CA373929832 | HNRNPK | c.236C>G (p.Pro79Arg) c.214-894C>G (n.214-894C>G) n.288C>G | |
| 9 | g.83975483G>T | CA373929834 | HNRNPK | c.236C>A (p.Pro79Gln) c.214-894C>A (n.214-894C>A) n.288C>A | |
| 9 | g.83975483_83975484insATTA | CA2569937039 | HNRNPK | c.235_236insTAAT (p.Pro79LeufsTer16) c.214-895_214-894insTAAT (n.214-895_214-894insTAAT) n.287_288insTAAT | |
| 9 | g.83975484G>A | CA373929859 | HNRNPK | c.235C>T (p.Pro79Ser) c.214-895C>T (n.214-895C>T) n.287C>T | |
| 9 | g.83975484G>C | CA373929865 | HNRNPK | c.235C>G (p.Pro79Ala) c.214-895C>G (n.214-895C>G) n.287C>G | |
| 9 | g.83975484G>T | CA373929869 | HNRNPK | c.235C>A (p.Pro79Thr) c.214-895C>A (n.214-895C>A) n.287C>A | |
| 9 | g.83975484_83975485insAAAGA | CA2544797338 | HNRNPK | c.234_235insTCTTT (p.Pro79SerfsTer12) c.214-896_214-895insTCTTT (n.214-896_214-895insTCTTT) n.286_287insTCTTT | |
| 9 | g.83975485G>A | CA465715856 | HNRNPK | c.234C>T (p.Val78=) c.214-896C>T (n.214-896C>T) n.286C>T | |
| 9 | g.83975485G>C | CA465715857 | HNRNPK | c.234C>G (p.Val78=) c.214-896C>G (n.214-896C>G) n.286C>G | |
| 9 | g.83975485G>T | CA465715858 | HNRNPK | c.234C>A (p.Val78=) c.214-896C>A (n.214-896C>A) n.286C>A |