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 |
|---|---|---|---|---|---|
| 22 | g.37084339A= | CA2404175879 | TMPRSS6 | c.1152T= (p.Tyr384=) c.1179T= (p.Tyr393=) c.165T= (p.Tyr55=) c.720T= (p.Tyr240=) | |
| 22 | g.37084339A>C | CA114993 | TMPRSS6 | c.1152T>G (p.Tyr384Ter) c.1179T>G (p.Tyr393Ter) c.165T>G (p.Tyr55Ter) c.720T>G (p.Tyr240Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.37084339A>G | CA514485513 | TMPRSS6 | c.1152T>C (p.Tyr384=) c.1179T>C (p.Tyr393=) c.165T>C (p.Tyr55=) c.720T>C (p.Tyr240=) | |
| 22 | g.37084339A>T | CA411424291 | TMPRSS6 | c.1152T>A (p.Tyr384Ter) c.1179T>A (p.Tyr393Ter) c.165T>A (p.Tyr55Ter) c.720T>A (p.Tyr240Ter) | |
| 22 | g.37084340T>A | CA411424293 | TMPRSS6 | c.1151A>T (p.Tyr384Phe) c.1178A>T (p.Tyr393Phe) c.164A>T (p.Tyr55Phe) c.719A>T (p.Tyr240Phe) | |
| 22 | g.37084340T>C | CA411424294 | TMPRSS6 | c.1151A>G (p.Tyr384Cys) c.1178A>G (p.Tyr393Cys) c.164A>G (p.Tyr55Cys) c.719A>G (p.Tyr240Cys) | |
| 22 | g.37084340T>G | CA411424296 | TMPRSS6 | c.1151A>C (p.Tyr384Ser) c.1178A>C (p.Tyr393Ser) c.164A>C (p.Tyr55Ser) c.719A>C (p.Tyr240Ser) | |
| 22 | g.37084341A>C | CA411424302 | TMPRSS6 | c.1150T>G (p.Tyr384Asp) c.1177T>G (p.Tyr393Asp) c.163T>G (p.Tyr55Asp) c.718T>G (p.Tyr240Asp) | |
| 22 | g.37084341A>G | CA411424301 | TMPRSS6 | c.1150T>C (p.Tyr384His) c.1177T>C (p.Tyr393His) c.163T>C (p.Tyr55His) c.718T>C (p.Tyr240His) | gnomAD v4 |
| 22 | g.37084341A>T | CA411424299 | TMPRSS6 | c.1150T>A (p.Tyr384Asn) c.1177T>A (p.Tyr393Asn) c.163T>A (p.Tyr55Asn) c.718T>A (p.Tyr240Asn) | |
| 22 | g.37084342C>A | CA411424305 | TMPRSS6 | c.1149G>T (p.Lys383Asn) c.1176G>T (p.Lys392Asn) c.162G>T (p.Lys54Asn) c.717G>T (p.Lys239Asn) | |
| 22 | g.37084342C= | CA2404175880 | TMPRSS6 | c.1149G= (p.Lys383=) c.1176G= (p.Lys392=) c.162G= (p.Lys54=) c.717G= (p.Lys239=) | |
| 22 | g.37084342C>G | CA411424308 | TMPRSS6 | c.1149G>C (p.Lys383Asn) c.1176G>C (p.Lys392Asn) c.162G>C (p.Lys54Asn) c.717G>C (p.Lys239Asn) | dbSNP gnomAD v4 |
| 22 | g.37084342C>T | CA10215754 | TMPRSS6 | c.1149G>A (p.Lys383=) c.1176G>A (p.Lys392=) c.162G>A (p.Lys54=) c.717G>A (p.Lys239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37084343T>A | CA411424311 | TMPRSS6 | c.1148A>T (p.Lys383Met) c.1175A>T (p.Lys392Met) c.161A>T (p.Lys54Met) c.716A>T (p.Lys239Met) | |
| 22 | g.37084343T>C | CA411424313 | TMPRSS6 | c.1148A>G (p.Lys383Arg) c.1175A>G (p.Lys392Arg) c.161A>G (p.Lys54Arg) c.716A>G (p.Lys239Arg) | |
| 22 | g.37084343T>G | CA411424314 | TMPRSS6 | c.1148A>C (p.Lys383Thr) c.1175A>C (p.Lys392Thr) c.161A>C (p.Lys54Thr) c.716A>C (p.Lys239Thr) | |
| 22 | g.37084344T>A | CA411424316 | TMPRSS6 | c.1147A>T (p.Lys383Ter) c.1174A>T (p.Lys392Ter) c.160A>T (p.Lys54Ter) c.715A>T (p.Lys239Ter) | |
| 22 | g.37084344T>C | CA411424318 | TMPRSS6 | c.1147A>G (p.Lys383Glu) c.1174A>G (p.Lys392Glu) c.160A>G (p.Lys54Glu) c.715A>G (p.Lys239Glu) | |
| 22 | g.37084344T>G | CA411424320 | TMPRSS6 | c.1147A>C (p.Lys383Gln) c.1174A>C (p.Lys392Gln) c.160A>C (p.Lys54Gln) c.715A>C (p.Lys239Gln) | |
| 22 | g.37084345C>A | CA411424322 | TMPRSS6 | c.1146G>T (p.Gln382His) c.1173G>T (p.Gln391His) c.159G>T (p.Gln53His) c.714G>T (p.Gln238His) | |
| 22 | g.37084345C= | CA2404175881 | TMPRSS6 | c.1146G= (p.Gln382=) c.1173G= (p.Gln391=) c.159G= (p.Gln53=) c.714G= (p.Gln238=) | |
| 22 | g.37084345C>G | CA411424324 | TMPRSS6 | c.1146G>C (p.Gln382His) c.1173G>C (p.Gln391His) c.159G>C (p.Gln53His) c.714G>C (p.Gln238His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37084345C>T | CA514485540 | TMPRSS6 | c.1146G>A (p.Gln382=) c.1173G>A (p.Gln391=) c.159G>A (p.Gln53=) c.714G>A (p.Gln238=) | dbSNP |
| 22 | g.37084346T>A | CA411424326 | TMPRSS6 | c.1145A>T (p.Gln382Leu) c.1172A>T (p.Gln391Leu) c.158A>T (p.Gln53Leu) c.713A>T (p.Gln238Leu) | |
| 22 | g.37084346T>C | CA10215755 | TMPRSS6 | c.1145A>G (p.Gln382Arg) c.1172A>G (p.Gln391Arg) c.158A>G (p.Gln53Arg) c.713A>G (p.Gln238Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37084346T>G | CA411424328 | TMPRSS6 | c.1145A>C (p.Gln382Pro) c.1172A>C (p.Gln391Pro) c.158A>C (p.Gln53Pro) c.713A>C (p.Gln238Pro) | |
| 22 | g.37084346T= | CA2404175882 | TMPRSS6 | c.1145A= (p.Gln382=) c.1172A= (p.Gln391=) c.158A= (p.Gln53=) c.713A= (p.Gln238=) | |
| 22 | g.37084347G>A | CA411424331 | TMPRSS6 | c.1144C>T (p.Gln382Ter) c.1171C>T (p.Gln391Ter) c.157C>T (p.Gln53Ter) c.712C>T (p.Gln238Ter) | |
| 22 | g.37084347G>C | CA411424333 | TMPRSS6 | c.1144C>G (p.Gln382Glu) c.1171C>G (p.Gln391Glu) c.157C>G (p.Gln53Glu) c.712C>G (p.Gln238Glu) | gnomAD v4 |
| 22 | g.37084347G>T | CA411424329 | TMPRSS6 | c.1144C>A (p.Gln382Lys) c.1171C>A (p.Gln391Lys) c.157C>A (p.Gln53Lys) c.712C>A (p.Gln238Lys) | |
| 22 | g.37084348C>A | CA411424335 | TMPRSS6 | c.1143G>T (p.Arg381Ser) c.1170G>T (p.Arg390Ser) c.156G>T (p.Arg52Ser) c.711G>T (p.Arg237Ser) | gnomAD v4 |
| 22 | g.37084348C>G | CA411424336 | TMPRSS6 | c.1143G>C (p.Arg381Ser) c.1170G>C (p.Arg390Ser) c.156G>C (p.Arg52Ser) c.711G>C (p.Arg237Ser) | |
| 22 | g.37084348C>T | CA514485562 | TMPRSS6 | c.1143G>A (p.Arg381=) c.1170G>A (p.Arg390=) c.156G>A (p.Arg52=) c.711G>A (p.Arg237=) | |
| 22 | g.37084349C>A | CA411424338 | TMPRSS6 | c.1142G>T (p.Arg381Met) c.1169G>T (p.Arg390Met) c.155G>T (p.Arg52Met) c.710G>T (p.Arg237Met) | |
| 22 | g.37084349C= | CA2404175883 | TMPRSS6 | c.1142G= (p.Arg381=) c.1169G= (p.Arg390=) c.155G= (p.Arg52=) c.710G= (p.Arg237=) | |
| 22 | g.37084349C>G | CA411424340 | TMPRSS6 | c.1142G>C (p.Arg381Thr) c.1169G>C (p.Arg390Thr) c.155G>C (p.Arg52Thr) c.710G>C (p.Arg237Thr) | |
| 22 | g.37084349C>T | CA411424344 | TMPRSS6 | c.1142G>A (p.Arg381Lys) c.1169G>A (p.Arg390Lys) c.155G>A (p.Arg52Lys) c.710G>A (p.Arg237Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.37084350T>A | CA411424348 | TMPRSS6 | c.1141A>T (p.Arg381Trp) c.1168A>T (p.Arg390Trp) c.154A>T (p.Arg52Trp) c.709A>T (p.Arg237Trp) | |
| 22 | g.37084350T>C | CA411424349 | TMPRSS6 | c.1141A>G (p.Arg381Gly) c.1168A>G (p.Arg390Gly) c.154A>G (p.Arg52Gly) c.709A>G (p.Arg237Gly) | |
| 22 | g.37084350T>G | CA10215756 | TMPRSS6 | c.1141A>C (p.Arg381=) c.1168A>C (p.Arg390=) c.154A>C (p.Arg52=) c.709A>C (p.Arg237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37084350T= | CA2404175884 | TMPRSS6 | c.1141A= (p.Arg381=) c.1168A= (p.Arg390=) c.154A= (p.Arg52=) c.709A= (p.Arg237=) | |
| 22 | g.37084351C>A | CA411424351 | TMPRSS6 | c.1140G>T (p.Arg380Ser) c.1167G>T (p.Arg389Ser) c.153G>T (p.Arg51Ser) c.708G>T (p.Arg236Ser) | |
| 22 | g.37084351C>G | CA411424353 | TMPRSS6 | c.1140G>C (p.Arg380Ser) c.1167G>C (p.Arg389Ser) c.153G>C (p.Arg51Ser) c.708G>C (p.Arg236Ser) | |
| 22 | g.37084351C>T | CA514485573 | TMPRSS6 | c.1140G>A (p.Arg380=) c.1167G>A (p.Arg389=) c.153G>A (p.Arg51=) c.708G>A (p.Arg236=) | |
| 22 | g.37084352C>A | CA411424354 | TMPRSS6 | c.1139G>T (p.Arg380Met) c.1166G>T (p.Arg389Met) c.152G>T (p.Arg51Met) c.707G>T (p.Arg236Met) | |
| 22 | g.37084352C>G | CA411424356 | TMPRSS6 | c.1139G>C (p.Arg380Thr) c.1166G>C (p.Arg389Thr) c.152G>C (p.Arg51Thr) c.707G>C (p.Arg236Thr) | |
| 22 | g.37084352C>T | CA411424357 | TMPRSS6 | c.1139G>A (p.Arg380Lys) c.1166G>A (p.Arg389Lys) c.152G>A (p.Arg51Lys) c.707G>A (p.Arg236Lys) | |
| 22 | g.37084353T>A | CA411424360 | TMPRSS6 | c.1138A>T (p.Arg380Trp) c.1165A>T (p.Arg389Trp) c.151A>T (p.Arg51Trp) c.706A>T (p.Arg236Trp) | dbSNP |
| 22 | g.37084353T>C | CA411424359 | TMPRSS6 | c.1138A>G (p.Arg380Gly) c.1165A>G (p.Arg389Gly) c.151A>G (p.Arg51Gly) c.706A>G (p.Arg236Gly) |