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 |
|---|---|---|---|---|---|
| X | g.139560752del | CA2695236228 | F9 | c.735del (p.Asn245LysfsTer19) n.1402del c.621del (p.Asn207LysfsTer19) c.606del (p.Asn202LysfsTer19) | |
| X | g.139560752T>A | CA414443082 | F9 | c.735T>A (p.Asn245Lys) n.1402T>A c.621T>A (p.Asn207Lys) c.606T>A (p.Asn202Lys) | gnomAD v4 |
| X | g.139560752T>C | CA518862943 | F9 | c.735T>C (p.Asn245=) n.1402T>C c.621T>C (p.Asn207=) c.606T>C (p.Asn202=) | ClinVar |
| X | g.139560752T>G | CA414443083 | F9 | c.735T>G (p.Asn245Lys) n.1402T>G c.621T>G (p.Asn207Lys) c.606T>G (p.Asn202Lys) | |
| X | g.139560753G>A | CA414443087 | F9 | c.736G>A (p.Gly246Ser) n.1403G>A c.622G>A (p.Gly208Ser) c.607G>A (p.Gly203Ser) | |
| X | g.139560753G>C | CA414443090 | F9 | c.736G>C (p.Gly246Arg) n.1403G>C c.622G>C (p.Gly208Arg) c.607G>C (p.Gly203Arg) | |
| X | g.139560753G>T | CA414443092 | F9 | c.736G>T (p.Gly246Cys) n.1403G>T c.622G>T (p.Gly208Cys) c.607G>T (p.Gly203Cys) | |
| X | g.139560754G>A | CA414443095 | F9 | c.737G>A (p.Gly246Asp) n.1404G>A c.623G>A (p.Gly208Asp) c.608G>A (p.Gly203Asp) | |
| X | g.139560754G>C | CA414443098 | F9 | c.737G>C (p.Gly246Ala) n.1404G>C c.623G>C (p.Gly208Ala) c.608G>C (p.Gly203Ala) | |
| X | g.139560754G>T | CA414443101 | F9 | c.737G>T (p.Gly246Val) n.1404G>T c.623G>T (p.Gly208Val) c.608G>T (p.Gly203Val) | |
| X | g.139560755T>A | CA518862944 | F9 | c.738T>A (p.Gly246=) n.1405T>A c.624T>A (p.Gly208=) c.609T>A (p.Gly203=) | |
| X | g.139560755T>C | CA518862946 | F9 | c.738T>C (p.Gly246=) n.1405T>C c.624T>C (p.Gly208=) c.609T>C (p.Gly203=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.139560755T>G | CA518862945 | F9 | c.738T>G (p.Gly246=) n.1405T>G c.624T>G (p.Gly208=) c.609T>G (p.Gly203=) | |
| X | g.139560755T= | CA2461411810 | F9 | c.738T= (p.Gly246=) n.1405T= c.624T= (p.Gly208=) c.609T= (p.Gly203=) | |
| X | g.139560756A>C | CA414443103 | F9 | c.739A>C (p.Lys247Gln) n.1406A>C c.625A>C (p.Lys209Gln) c.610A>C (p.Lys204Gln) | |
| X | g.139560756A>G | CA414443105 | F9 | c.739A>G (p.Lys247Glu) n.1406A>G c.625A>G (p.Lys209Glu) c.610A>G (p.Lys204Glu) | |
| X | g.139560756A>T | CA414443108 | F9 | c.739A>T (p.Lys247Ter) n.1406A>T c.625A>T (p.Lys209Ter) c.610A>T (p.Lys204Ter) | |
| X | g.139560757A= | CA2461411811 | F9 | c.740A= (p.Lys247=) n.1407A= c.626A= (p.Lys209=) c.611A= (p.Lys204=) | |
| X | g.139560757A>C | CA414443111 | F9 | c.740A>C (p.Lys247Thr) n.1407A>C c.626A>C (p.Lys209Thr) c.611A>C (p.Lys204Thr) | ClinVar dbSNP |
| X | g.139560757A>G | CA414443114 | F9 | c.740A>G (p.Lys247Arg) n.1407A>G c.626A>G (p.Lys209Arg) c.611A>G (p.Lys204Arg) | |
| X | g.139560757A>T | CA414443115 | F9 | c.740A>T (p.Lys247Ile) n.1407A>T c.626A>T (p.Lys209Ile) c.611A>T (p.Lys204Ile) | |
| X | g.139560758A= | CA2461411812 | F9 | c.741A= (p.Lys247=) n.1408A= c.627A= (p.Lys209=) c.612A= (p.Lys204=) | |
| X | g.139560758A>C | CA414443122 | F9 | c.741A>C (p.Lys247Asn) n.1408A>C c.627A>C (p.Lys209Asn) c.612A>C (p.Lys204Asn) | |
| X | g.139560758A>G | CA518862947 | F9 | c.741A>G (p.Lys247=) n.1408A>G c.627A>G (p.Lys209=) c.612A>G (p.Lys204=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.139560758A>T | CA414443118 | F9 | c.741A>T (p.Lys247Asn) n.1408A>T c.627A>T (p.Lys209Asn) c.612A>T (p.Lys204Asn) | |
| X | g.139560759del | CA2740090220 | F9 | c.742del (p.Val248LeufsTer16) n.1409del c.628del (p.Val210LeufsTer16) c.613del (p.Val205LeufsTer16) | ClinVar |
| X | g.139560759G>A | CA414443125 | F9 | c.742G>A (p.Val248Ile) n.1409G>A c.628G>A (p.Val210Ile) c.613G>A (p.Val205Ile) | |
| X | g.139560759G>C | CA414443127 | F9 | c.742G>C (p.Val248Leu) n.1409G>C c.628G>C (p.Val210Leu) c.613G>C (p.Val205Leu) | |
| X | g.139560759G>T | CA414443129 | F9 | c.742G>T (p.Val248Phe) n.1409G>T c.628G>T (p.Val210Phe) c.613G>T (p.Val205Phe) | |
| X | g.139560760_139560762del | CA2695236229 | F9 | c.743_745del (p.Val248del) n.1410_1412del c.629_631del (p.Val210del) c.614_616del (p.Val205del) | |
| X | g.139560760T>A | CA414443131 | F9 | c.743T>A (p.Val248Asp) n.1410T>A c.629T>A (p.Val210Asp) c.614T>A (p.Val205Asp) | |
| X | g.139560760T>C | CA414443133 | F9 | c.743T>C (p.Val248Ala) n.1410T>C c.629T>C (p.Val210Ala) c.614T>C (p.Val205Ala) | |
| X | g.139560760T>G | CA414443136 | F9 | c.743T>G (p.Val248Gly) n.1410T>G c.629T>G (p.Val210Gly) c.614T>G (p.Val205Gly) | |
| X | g.139560761_139560764del | CA2695236230 | F9 | c.744_747del (p.Asp249HisfsTer14) n.1411_1414del c.630_633del (p.Asp211HisfsTer14) c.615_618del (p.Asp206HisfsTer14) | |
| X | g.139560761T>A | CA518862948 | F9 | c.744T>A (p.Val248=) n.1411T>A c.630T>A (p.Val210=) c.615T>A (p.Val205=) | ClinVar |
| X | g.139560761T>C | CA518862949 | F9 | c.744T>C (p.Val248=) n.1411T>C c.630T>C (p.Val210=) c.615T>C (p.Val205=) | |
| X | g.139560761T>G | CA518862950 | F9 | c.744T>G (p.Val248=) n.1411T>G c.630T>G (p.Val210=) c.615T>G (p.Val205=) | |
| X | g.139560762G>A | CA414443140 | F9 | c.745G>A (p.Asp249Asn) n.1412G>A c.631G>A (p.Asp211Asn) c.616G>A (p.Asp206Asn) | |
| X | g.139560762G>C | CA414443141 | F9 | c.745G>C (p.Asp249His) n.1412G>C c.631G>C (p.Asp211His) c.616G>C (p.Asp206His) | |
| X | g.139560762G>T | CA414443144 | F9 | c.745G>T (p.Asp249Tyr) n.1412G>T c.631G>T (p.Asp211Tyr) c.616G>T (p.Asp206Tyr) | |
| X | g.139560763A= | CA2461411813 | F9 | c.746A= (p.Asp249=) n.1413A= c.632A= (p.Asp211=) c.617A= (p.Asp206=) | |
| X | g.139560763A>C | CA414443147 | F9 | c.746A>C (p.Asp249Ala) n.1413A>C c.632A>C (p.Asp211Ala) c.617A>C (p.Asp206Ala) | |
| X | g.139560763A>G | CA414443149 | F9 | c.746A>G (p.Asp249Gly) n.1413A>G c.632A>G (p.Asp211Gly) c.617A>G (p.Asp206Gly) | dbSNP |
| X | g.139560763A>T | CA414443151 | F9 | c.746A>T (p.Asp249Val) n.1413A>T c.632A>T (p.Asp211Val) c.617A>T (p.Asp206Val) | |
| X | g.139560764T>A | CA414443153 | F9 | c.747T>A (p.Asp249Glu) n.1414T>A c.633T>A (p.Asp211Glu) c.618T>A (p.Asp206Glu) | |
| X | g.139560764T>C | CA518862953 | F9 | c.747T>C (p.Asp249=) n.1414T>C c.633T>C (p.Asp211=) c.618T>C (p.Asp206=) | ClinVar dbSNP |
| X | g.139560764T>G | CA414443156 | F9 | c.747T>G (p.Asp249Glu) n.1414T>G c.633T>G (p.Asp211Glu) c.618T>G (p.Asp206Glu) | |
| X | g.139560765G>A | CA414443165 | F9 | c.748G>A (p.Ala250Thr) n.1415G>A c.634G>A (p.Ala212Thr) c.619G>A (p.Ala207Thr) | |
| X | g.139560765G>C | CA414443164 | F9 | c.748G>C (p.Ala250Pro) n.1415G>C c.634G>C (p.Ala212Pro) c.619G>C (p.Ala207Pro) | |
| X | g.139560765G>T | CA414443160 | F9 | c.748G>T (p.Ala250Ser) n.1415G>T c.634G>T (p.Ala212Ser) c.619G>T (p.Ala207Ser) |