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 |
|---|---|---|---|---|---|
| 11 | g.94470487C>A | CA382374215 | MRE11 | c.1001G>T (p.Ser334Ile) c.1010G>T (p.Ser337Ile) c.533G>T (p.Ser178Ile) n.1297G>T | |
| 11 | g.94470487C= | CA1992475633 | MRE11 | c.1001G= (p.Ser334=) c.1010G= (p.Ser337=) c.533G= (p.Ser178=) n.1297G= | |
| 11 | g.94470487C>G | CA382374216 | MRE11 | c.1001G>C (p.Ser334Thr) c.1010G>C (p.Ser337Thr) c.533G>C (p.Ser178Thr) n.1297G>C | dbSNP |
| 11 | g.94470487C>T | CA382374217 | MRE11 | c.1001G>A (p.Ser334Asn) c.1010G>A (p.Ser337Asn) c.533G>A (p.Ser178Asn) n.1297G>A | |
| 11 | g.94470488T>A | CA382374218 | MRE11 | c.1000A>T (p.Ser334Cys) c.1009A>T (p.Ser337Cys) c.532A>T (p.Ser178Cys) n.1296A>T | |
| 11 | g.94470488T>C | CA382374219 | MRE11 | c.1000A>G (p.Ser334Gly) c.1009A>G (p.Ser337Gly) c.532A>G (p.Ser178Gly) n.1296A>G | |
| 11 | g.94470488T>G | CA382374220 | MRE11 | c.1000A>C (p.Ser334Arg) c.1009A>C (p.Ser337Arg) c.532A>C (p.Ser178Arg) n.1296A>C | |
| 11 | g.94470489T>A | CA382374222 | MRE11 | c.999A>T (p.Gln333His) c.1008A>T (p.Gln336His) c.531A>T (p.Gln177His) n.1295A>T | |
| 11 | g.94470489T>C | CA191390 | MRE11 | c.999A>G (p.Gln333=) c.1008A>G (p.Gln336=) c.531A>G (p.Gln177=) n.1295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.94470489T>G | CA382374221 | MRE11 | c.999A>C (p.Gln333His) c.1008A>C (p.Gln336His) c.531A>C (p.Gln177His) n.1295A>C | |
| 11 | g.94470489T= | CA1992475637 | MRE11 | c.999A= (p.Gln333=) c.1008A= (p.Gln336=) c.531A= (p.Gln177=) n.1295A= | |
| 11 | g.94470490T>A | CA382374224 | MRE11 | c.998A>T (p.Gln333Leu) c.1007A>T (p.Gln336Leu) c.530A>T (p.Gln177Leu) n.1294A>T | |
| 11 | g.94470490T>C | CA382374223 | MRE11 | c.998A>G (p.Gln333Arg) c.1007A>G (p.Gln336Arg) c.530A>G (p.Gln177Arg) n.1294A>G | |
| 11 | g.94470490T>G | CA382374225 | MRE11 | c.998A>C (p.Gln333Pro) c.1007A>C (p.Gln336Pro) c.530A>C (p.Gln177Pro) n.1294A>C | |
| 11 | g.94470491G>A | CA382374226 | MRE11 | c.997C>T (p.Gln333Ter) c.1006C>T (p.Gln336Ter) c.529C>T (p.Gln177Ter) n.1293C>T | |
| 11 | g.94470491G>C | CA382374227 | MRE11 | c.997C>G (p.Gln333Glu) c.1006C>G (p.Gln336Glu) c.529C>G (p.Gln177Glu) n.1293C>G | |
| 11 | g.94470491G>T | CA382374228 | MRE11 | c.997C>A (p.Gln333Lys) c.1006C>A (p.Gln336Lys) c.529C>A (p.Gln177Lys) n.1293C>A | |
| 11 | g.94470492T>A | CA476283711 | MRE11 | c.996A>T (p.Ile332=) c.1005A>T (p.Ile335=) c.528A>T (p.Ile176=) n.1292A>T | |
| 11 | g.94470492T>C | CA382374229 | MRE11 | c.996A>G (p.Ile332Met) c.1005A>G (p.Ile335Met) c.528A>G (p.Ile176Met) n.1292A>G | |
| 11 | g.94470492T>G | CA476283714 | MRE11 | c.996A>C (p.Ile332=) c.1005A>C (p.Ile335=) c.528A>C (p.Ile176=) n.1292A>C | |
| 11 | g.94470493A>C | CA382374230 | MRE11 | c.995T>G (p.Ile332Arg) c.1004T>G (p.Ile335Arg) c.527T>G (p.Ile176Arg) n.1291T>G | |
| 11 | g.94470493A>G | CA382374231 | MRE11 | c.995T>C (p.Ile332Thr) c.1004T>C (p.Ile335Thr) c.527T>C (p.Ile176Thr) n.1291T>C | |
| 11 | g.94470493A>T | CA382374232 | MRE11 | c.995T>A (p.Ile332Lys) c.1004T>A (p.Ile335Lys) c.527T>A (p.Ile176Lys) n.1291T>A | |
| 11 | g.94470494T>A | CA382374233 | MRE11 | c.994A>T (p.Ile332Leu) c.1003A>T (p.Ile335Leu) c.526A>T (p.Ile176Leu) n.1290A>T | |
| 11 | g.94470494T>C | CA6235249 | MRE11 | c.994A>G (p.Ile332Val) c.1003A>G (p.Ile335Val) c.526A>G (p.Ile176Val) n.1290A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94470494T>G | CA382374234 | MRE11 | c.994A>C (p.Ile332Leu) c.1003A>C (p.Ile335Leu) c.526A>C (p.Ile176Leu) n.1290A>C | |
| 11 | g.94470494T= | CA1992475641 | MRE11 | c.994A= (p.Ile332=) c.1003A= (p.Ile335=) c.526A= (p.Ile176=) n.1290A= | |
| 11 | g.94470495G>A | CA476283721 | MRE11 | c.993C>T (p.Ala331=) c.1002C>T (p.Ala334=) c.525C>T (p.Ala175=) n.1289C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.94470495G>C | CA476283722 | MRE11 | c.993C>G (p.Ala331=) c.1002C>G (p.Ala334=) c.525C>G (p.Ala175=) n.1289C>G | |
| 11 | g.94470495G= | CA1992475643 | MRE11 | c.993C= (p.Ala331=) c.1002C= (p.Ala334=) c.525C= (p.Ala175=) n.1289C= | |
| 11 | g.94470495G>T | CA476283725 | MRE11 | c.993C>A (p.Ala331=) c.1002C>A (p.Ala334=) c.525C>A (p.Ala175=) n.1289C>A | ClinVar |
| 11 | g.94470496G>A | CA382374235 | MRE11 | c.992C>T (p.Ala331Val) c.1001C>T (p.Ala334Val) c.524C>T (p.Ala175Val) n.1288C>T | dbSNP |
| 11 | g.94470496G>C | CA382374236 | MRE11 | c.992C>G (p.Ala331Gly) c.1001C>G (p.Ala334Gly) c.524C>G (p.Ala175Gly) n.1288C>G | |
| 11 | g.94470496G>T | CA382374237 | MRE11 | c.992C>A (p.Ala331Asp) c.1001C>A (p.Ala334Asp) c.524C>A (p.Ala175Asp) n.1288C>A | |
| 11 | g.94470497C>A | CA382374240 | MRE11 | c.991G>T (p.Ala331Ser) c.1000G>T (p.Ala334Ser) c.523G>T (p.Ala175Ser) n.1287G>T | |
| 11 | g.94470497C>G | CA382374238 | MRE11 | c.991G>C (p.Ala331Pro) c.1000G>C (p.Ala334Pro) c.523G>C (p.Ala175Pro) n.1287G>C | ClinVar |
| 11 | g.94470497C>T | CA382374239 | MRE11 | c.991G>A (p.Ala331Thr) c.1000G>A (p.Ala334Thr) c.523G>A (p.Ala175Thr) n.1287G>A | |
| 11 | g.94470498T>A | CA382374241 | MRE11 | c.990A>T (p.Gln330His) c.999A>T (p.Gln333His) c.522A>T (p.Gln174His) n.1286A>T | |
| 11 | g.94470498T>C | CA476283735 | MRE11 | c.990A>G (p.Gln330=) c.999A>G (p.Gln333=) c.522A>G (p.Gln174=) n.1286A>G | |
| 11 | g.94470498T>G | CA382374242 | MRE11 | c.990A>C (p.Gln330His) c.999A>C (p.Gln333His) c.522A>C (p.Gln174His) n.1286A>C | |
| 11 | g.94470499T>A | CA382374243 | MRE11 | c.989A>T (p.Gln330Leu) c.998A>T (p.Gln333Leu) c.521A>T (p.Gln174Leu) n.1285A>T | |
| 11 | g.94470499T>C | CA382374244 | MRE11 | c.989A>G (p.Gln330Arg) c.998A>G (p.Gln333Arg) c.521A>G (p.Gln174Arg) n.1285A>G | |
| 11 | g.94470499T>G | CA382374245 | MRE11 | c.989A>C (p.Gln330Pro) c.998A>C (p.Gln333Pro) c.521A>C (p.Gln174Pro) n.1285A>C | |
| 11 | g.94470500G>A | CA382374246 | MRE11 | c.988C>T (p.Gln330Ter) c.997C>T (p.Gln333Ter) c.520C>T (p.Gln174Ter) n.1284C>T | ClinVar |
| 11 | g.94470500G>C | CA382374247 | MRE11 | c.988C>G (p.Gln330Glu) c.997C>G (p.Gln333Glu) c.520C>G (p.Gln174Glu) n.1284C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.94470500G= | CA1992475646 | MRE11 | c.988C= (p.Gln330=) c.997C= (p.Gln333=) c.520C= (p.Gln174=) n.1284C= | |
| 11 | g.94470500G>T | CA382374248 | MRE11 | c.988C>A (p.Gln330Lys) c.997C>A (p.Gln333Lys) c.520C>A (p.Gln174Lys) n.1284C>A | |
| 11 | g.94470501G>A | CA476283746 | MRE11 | c.987C>T (p.Thr329=) c.996C>T (p.Thr332=) c.519C>T (p.Thr173=) n.1283C>T | ClinVar |
| 11 | g.94470501G>C | CA476283743 | MRE11 | c.987C>G (p.Thr329=) c.996C>G (p.Thr332=) c.519C>G (p.Thr173=) n.1283C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.94470501G= | CA1992475650 | MRE11 | c.987C= (p.Thr329=) c.996C= (p.Thr332=) c.519C= (p.Thr173=) n.1283C= |