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 |
|---|---|---|---|---|---|
| 16 | g.56902415T>A | CA396001201 | SLC12A3 | c.2763T>A (p.Asn921Lys) c.2760T>A (p.Asn920Lys) c.2790T>A (p.Asn930Lys) c.2787T>A (p.Asn929Lys) n.194T>A | |
| 16 | g.56902415T>C | CA495613309 | SLC12A3 | c.2763T>C (p.Asn921=) c.2760T>C (p.Asn920=) c.2790T>C (p.Asn930=) c.2787T>C (p.Asn929=) n.194T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56902415T>G | CA396001203 | SLC12A3 | c.2763T>G (p.Asn921Lys) c.2760T>G (p.Asn920Lys) c.2790T>G (p.Asn930Lys) c.2787T>G (p.Asn929Lys) n.194T>G | |
| 16 | g.56902415T= | CA2224364810 | SLC12A3 | c.2763T= (p.Asn921=) c.2760T= (p.Asn920=) c.2790T= (p.Asn930=) c.2787T= (p.Asn929=) n.194T= | |
| 16 | g.56902415_56902416delinsTG | CA2224364811 | SLC12A3 | c.2763_2764delinsTG (p.Asn921=) c.2760_2761delinsTG (p.Asn920=) c.2790_2791delinsTG (p.Asn930=) c.2787_2788delinsTG (p.Asn929=) n.194_195delinsTG | |
| 16 | g.56902416del | CA2224364813 | SLC12A3 | c.2764del (p.Asp922MetfsTer?) c.2761del (p.Asp921MetfsTer?) c.2791del (p.Asp931MetfsTer?) c.2788del (p.Asp930MetfsTer?) n.195del | dbSNP |
| 16 | g.56902416G>A | CA281519716 | SLC12A3 | c.2764G>A (p.Asp922Asn) c.2761G>A (p.Asp921Asn) c.2791G>A (p.Asp931Asn) c.2788G>A (p.Asp930Asn) n.195G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56902416G>C | CA396001207 | SLC12A3 | c.2764G>C (p.Asp922His) c.2761G>C (p.Asp921His) c.2791G>C (p.Asp931His) c.2788G>C (p.Asp930His) n.195G>C | |
| 16 | g.56902416G= | CA2224364812 | SLC12A3 | c.2764G= (p.Asp922=) c.2761G= (p.Asp921=) c.2791G= (p.Asp931=) c.2788G= (p.Asp930=) n.195G= | |
| 16 | g.56902416G>T | CA396001206 | SLC12A3 | c.2764G>T (p.Asp922Tyr) c.2761G>T (p.Asp921Tyr) c.2791G>T (p.Asp931Tyr) c.2788G>T (p.Asp930Tyr) n.195G>T | |
| 16 | g.56902417A>C | CA396001208 | SLC12A3 | c.2765A>C (p.Asp922Ala) c.2762A>C (p.Asp921Ala) c.2792A>C (p.Asp931Ala) c.2789A>C (p.Asp930Ala) n.196A>C | ClinVar |
| 16 | g.56902417A>G | CA396001209 | SLC12A3 | c.2765A>G (p.Asp922Gly) c.2762A>G (p.Asp921Gly) c.2792A>G (p.Asp931Gly) c.2789A>G (p.Asp930Gly) n.196A>G | |
| 16 | g.56902417A>T | CA396001212 | SLC12A3 | c.2765A>T (p.Asp922Val) c.2762A>T (p.Asp921Val) c.2792A>T (p.Asp931Val) c.2789A>T (p.Asp930Val) n.196A>T | |
| 16 | g.56902418T>A | CA396001214 | SLC12A3 | c.2766T>A (p.Asp922Glu) c.2763T>A (p.Asp921Glu) c.2793T>A (p.Asp931Glu) c.2790T>A (p.Asp930Glu) n.197T>A | |
| 16 | g.56902418T>C | CA8070056 | SLC12A3 | c.2766T>C (p.Asp922=) c.2763T>C (p.Asp921=) c.2793T>C (p.Asp931=) c.2790T>C (p.Asp930=) n.197T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56902418T>G | CA396001217 | SLC12A3 | c.2766T>G (p.Asp922Glu) c.2763T>G (p.Asp921Glu) c.2793T>G (p.Asp931Glu) c.2790T>G (p.Asp930Glu) n.197T>G | |
| 16 | g.56902418T= | CA2224364814 | SLC12A3 | c.2766T= (p.Asp922=) c.2763T= (p.Asp921=) c.2793T= (p.Asp931=) c.2790T= (p.Asp930=) n.197T= | |
| 16 | g.56902419G>A | CA396001218 | SLC12A3 | c.2767G>A (p.Gly923Ser) c.2764G>A (p.Gly922Ser) c.2794G>A (p.Gly932Ser) c.2791G>A (p.Gly931Ser) n.198G>A | |
| 16 | g.56902419G>C | CA396001220 | SLC12A3 | c.2767G>C (p.Gly923Arg) c.2764G>C (p.Gly922Arg) c.2794G>C (p.Gly932Arg) c.2791G>C (p.Gly931Arg) n.198G>C | |
| 16 | g.56902419G>T | CA396001222 | SLC12A3 | c.2767G>T (p.Gly923Cys) c.2764G>T (p.Gly922Cys) c.2794G>T (p.Gly932Cys) c.2791G>T (p.Gly931Cys) n.198G>T | |
| 16 | g.56902420G>A | CA396001227 | SLC12A3 | c.2768G>A (p.Gly923Asp) c.2765G>A (p.Gly922Asp) c.2795G>A (p.Gly932Asp) c.2792G>A (p.Gly931Asp) n.199G>A | |
| 16 | g.56902420G>C | CA396001225 | SLC12A3 | c.2768G>C (p.Gly923Ala) c.2765G>C (p.Gly922Ala) c.2795G>C (p.Gly932Ala) c.2792G>C (p.Gly931Ala) n.199G>C | |
| 16 | g.56902420G>T | CA396001224 | SLC12A3 | c.2768G>T (p.Gly923Val) c.2765G>T (p.Gly922Val) c.2795G>T (p.Gly932Val) c.2792G>T (p.Gly931Val) n.199G>T | COSMIC |
| 16 | g.56902421C>A | CA495613313 | SLC12A3 | c.2769C>A (p.Gly923=) c.2766C>A (p.Gly922=) c.2796C>A (p.Gly932=) c.2793C>A (p.Gly931=) n.200C>A | |
| 16 | g.56902421C>G | CA495613314 | SLC12A3 | c.2769C>G (p.Gly923=) c.2766C>G (p.Gly922=) c.2796C>G (p.Gly932=) c.2793C>G (p.Gly931=) n.200C>G | |
| 16 | g.56902421C>T | CA495613315 | SLC12A3 | c.2769C>T (p.Gly923=) c.2766C>T (p.Gly922=) c.2796C>T (p.Gly932=) c.2793C>T (p.Gly931=) n.200C>T | |
| 16 | g.56902422T>A | CA396001230 | SLC12A3 | c.2770T>A (p.Phe924Ile) c.2767T>A (p.Phe923Ile) c.2797T>A (p.Phe933Ile) c.2794T>A (p.Phe932Ile) n.201T>A | |
| 16 | g.56902422T>C | CA396001231 | SLC12A3 | c.2770T>C (p.Phe924Leu) c.2767T>C (p.Phe923Leu) c.2797T>C (p.Phe933Leu) c.2794T>C (p.Phe932Leu) n.201T>C | |
| 16 | g.56902422T>G | CA8070057 | SLC12A3 | c.2770T>G (p.Phe924Val) c.2767T>G (p.Phe923Val) c.2797T>G (p.Phe933Val) c.2794T>G (p.Phe932Val) n.201T>G | dbSNP ExAC gnomAD v2 |
| 16 | g.56902422T= | CA2224364815 | SLC12A3 | c.2770T= (p.Phe924=) c.2767T= (p.Phe923=) c.2797T= (p.Phe933=) c.2794T= (p.Phe932=) n.201T= | |
| 16 | g.56902423T>A | CA396001234 | SLC12A3 | c.2771T>A (p.Phe924Tyr) c.2768T>A (p.Phe923Tyr) c.2798T>A (p.Phe933Tyr) c.2795T>A (p.Phe932Tyr) n.202T>A | |
| 16 | g.56902423T>C | CA396001236 | SLC12A3 | c.2771T>C (p.Phe924Ser) c.2768T>C (p.Phe923Ser) c.2798T>C (p.Phe933Ser) c.2795T>C (p.Phe932Ser) n.202T>C | |
| 16 | g.56902423T>G | CA396001237 | SLC12A3 | c.2771T>G (p.Phe924Cys) c.2768T>G (p.Phe923Cys) c.2798T>G (p.Phe933Cys) c.2795T>G (p.Phe932Cys) n.202T>G | |
| 16 | g.56902424C>A | CA396001238 | SLC12A3 | c.2772C>A (p.Phe924Leu) c.2769C>A (p.Phe923Leu) c.2799C>A (p.Phe933Leu) c.2796C>A (p.Phe932Leu) n.203C>A | COSMIC |
| 16 | g.56902424C>G | CA396001240 | SLC12A3 | c.2772C>G (p.Phe924Leu) c.2769C>G (p.Phe923Leu) c.2799C>G (p.Phe933Leu) c.2796C>G (p.Phe932Leu) n.203C>G | gnomAD v4 |
| 16 | g.56902424C>T | CA495613318 | SLC12A3 | c.2772C>T (p.Phe924=) c.2769C>T (p.Phe923=) c.2799C>T (p.Phe933=) c.2796C>T (p.Phe932=) n.203C>T | |
| 16 | g.56902425A>C | CA396001243 | SLC12A3 | c.2773A>C (p.Lys925Gln) c.2770A>C (p.Lys924Gln) c.2800A>C (p.Lys934Gln) c.2797A>C (p.Lys933Gln) n.204A>C | |
| 16 | g.56902425A>G | CA396001244 | SLC12A3 | c.2773A>G (p.Lys925Glu) c.2770A>G (p.Lys924Glu) c.2800A>G (p.Lys934Glu) c.2797A>G (p.Lys933Glu) n.204A>G | |
| 16 | g.56902425A>T | CA396001246 | SLC12A3 | c.2773A>T (p.Lys925Ter) c.2770A>T (p.Lys924Ter) c.2800A>T (p.Lys934Ter) c.2797A>T (p.Lys933Ter) n.204A>T | |
| 16 | g.56902426A= | CA2224364816 | SLC12A3 | c.2774A= (p.Lys925=) c.2771A= (p.Lys924=) c.2801A= (p.Lys934=) c.2798A= (p.Lys933=) n.205A= | |
| 16 | g.56902426A>C | CA8070058 | SLC12A3 | c.2774A>C (p.Lys925Thr) c.2771A>C (p.Lys924Thr) c.2801A>C (p.Lys934Thr) c.2798A>C (p.Lys933Thr) n.205A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56902426A>G | CA281519746 | SLC12A3 | c.2774A>G (p.Lys925Arg) c.2771A>G (p.Lys924Arg) c.2801A>G (p.Lys934Arg) c.2798A>G (p.Lys933Arg) n.205A>G | dbSNP |
| 16 | g.56902426A>T | CA396001249 | SLC12A3 | c.2774A>T (p.Lys925Met) c.2771A>T (p.Lys924Met) c.2801A>T (p.Lys934Met) c.2798A>T (p.Lys933Met) n.205A>T | |
| 16 | g.56902427G>A | CA495613320 | SLC12A3 | c.2775G>A (p.Lys925=) c.2772G>A (p.Lys924=) c.2802G>A (p.Lys934=) c.2799G>A (p.Lys933=) n.206G>A | |
| 16 | g.56902427G>C | CA396001253 | SLC12A3 | c.2775G>C (p.Lys925Asn) c.2772G>C (p.Lys924Asn) c.2802G>C (p.Lys934Asn) c.2799G>C (p.Lys933Asn) n.206G>C | |
| 16 | g.56902427G>T | CA396001254 | SLC12A3 | c.2775G>T (p.Lys925Asn) c.2772G>T (p.Lys924Asn) c.2802G>T (p.Lys934Asn) c.2799G>T (p.Lys933Asn) n.206G>T | |
| 16 | g.56902428G>A | CA396001255 | SLC12A3 | c.2776G>A (p.Asp926Asn) c.2773G>A (p.Asp925Asn) c.2803G>A (p.Asp935Asn) c.2800G>A (p.Asp934Asn) n.207G>A | dbSNP |
| 16 | g.56902428G>C | CA396001258 | SLC12A3 | c.2776G>C (p.Asp926His) c.2773G>C (p.Asp925His) c.2803G>C (p.Asp935His) c.2800G>C (p.Asp934His) n.207G>C | dbSNP |
| 16 | g.56902428G= | CA2224364817 | SLC12A3 | c.2776G= (p.Asp926=) c.2773G= (p.Asp925=) c.2803G= (p.Asp935=) c.2800G= (p.Asp934=) n.207G= | |
| 16 | g.56902428G>T | CA396001260 | SLC12A3 | c.2776G>T (p.Asp926Tyr) c.2773G>T (p.Asp925Tyr) c.2803G>T (p.Asp935Tyr) c.2800G>T (p.Asp934Tyr) n.207G>T |