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 |
|---|---|---|---|---|---|
| 2 | g.219421404A>C | CA350694102 | DES | n.562A>C n.476A>C c.1088A>C (p.Tyr363Ser) n.560A>C n.483A>C c.1085A>C (p.Tyr362Ser) c.736-80A>C (n.736-80A>C) c.1024-5A>C (n.1024-5A>C) c.1067A>C (p.Tyr356Ser) c.818A>C (p.Tyr273Ser) | |
| 2 | g.219421404A>G | CA350694104 | DES | n.562A>G n.476A>G c.1088A>G (p.Tyr363Cys) n.560A>G n.483A>G c.1085A>G (p.Tyr362Cys) c.736-80A>G (n.736-80A>G) c.1024-5A>G (n.1024-5A>G) c.1067A>G (p.Tyr356Cys) c.818A>G (p.Tyr273Cys) | |
| 2 | g.219421404A>T | CA350694106 | DES | n.562A>T n.476A>T c.1088A>T (p.Tyr363Phe) n.560A>T n.483A>T c.1085A>T (p.Tyr362Phe) c.736-80A>T (n.736-80A>T) c.1024-5A>T (n.1024-5A>T) c.1067A>T (p.Tyr356Phe) c.818A>T (p.Tyr273Phe) | |
| 2 | g.219421404_219421422delinsACCAGGACAACATTGCGCG | CA1329211264 | DES | n.562_580delinsACCAGGACAACATTGCGCG n.476_494delinsACCAGGACAACATTGCGCG c.1088_1106delinsACCAGGACAACATTGCGCG (p.Tyr363=) n.560_578delinsACCAGGACAACATTGCGCG n.483_501delinsACCAGGACAACATTGCGCG c.1085_1103delinsACCAGGACAACATTGCGCG (p.Tyr362=) c.736-80_736-62delinsACCAGGACAACATTGCGCG (n.736-80_736-62delinsACCAGGACAACATTGCGCG) c.1024-5_1037delinsACCAGGACAACATTGCGCG c.1067_1085delinsACCAGGACAACATTGCGCG (p.Tyr356=) c.818_836delinsACCAGGACAACATTGCGCG (p.Tyr273=) | |
| 2 | g.219421405C>A | CA2125237 | DES | n.563C>A n.477C>A c.1089C>A (p.Tyr363Ter) n.561C>A n.484C>A c.1086C>A (p.Tyr362Ter) c.736-79C>A (n.736-79C>A) c.1024-4C>A (n.1024-4C>A) c.1068C>A (p.Tyr356Ter) c.819C>A (p.Tyr273Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.219421405C= | CA1329211265 | DES | n.563C= n.477C= c.1089C= (p.Tyr363=) n.561C= n.484C= c.1086C= (p.Tyr362=) c.736-79C= (n.736-79C=) c.1024-4C= (n.1024-4C=) c.1068C= (p.Tyr356=) c.819C= (p.Tyr273=) | |
| 2 | g.219421405C>G | CA350694112 | DES | n.563C>G n.477C>G c.1089C>G (p.Tyr363Ter) n.561C>G n.484C>G c.1086C>G (p.Tyr362Ter) c.736-79C>G (n.736-79C>G) c.1024-4C>G (n.1024-4C>G) c.1068C>G (p.Tyr356Ter) c.819C>G (p.Tyr273Ter) | |
| 2 | g.219421405C>T | CA431284286 | DES | n.563C>T n.477C>T c.1089C>T (p.Tyr363=) n.561C>T n.484C>T c.1086C>T (p.Tyr362=) c.736-79C>T (n.736-79C>T) c.1024-4C>T (n.1024-4C>T) c.1068C>T (p.Tyr356=) c.819C>T (p.Tyr273=) | dbSNP gnomAD v4 |
| 2 | g.219421407_219421424del | CA915941734 | DES | n.565_582del n.479_496del c.1091_1108del (p.Gln364_Arg369del) n.563_580del n.486_503del c.1088_1105del (p.Gln363_Arg368del) c.736-77_736-60del (n.736-77_736-60del) c.1024-2_1039del c.1070_1087del (p.Gln357_Arg362del) c.821_838del (p.Gln274_Arg279del) | ClinVar dbSNP |
| 2 | g.219421406C>A | CA350694116 | DES | n.564C>A n.478C>A c.1090C>A (p.Gln364Lys) n.562C>A n.485C>A c.1087C>A (p.Gln363Lys) c.736-78C>A (n.736-78C>A) c.1024-3C>A (n.1024-3C>A) c.1069C>A (p.Gln357Lys) c.820C>A (p.Gln274Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219421406C= | CA1329211266 | DES | n.564C= n.478C= c.1090C= (p.Gln364=) n.562C= n.485C= c.1087C= (p.Gln363=) c.736-78C= (n.736-78C=) c.1024-3C= (n.1024-3C=) c.1069C= (p.Gln357=) c.820C= (p.Gln274=) | |
| 2 | g.219421406C>G | CA350694119 | DES | n.564C>G n.478C>G c.1090C>G (p.Gln364Glu) n.562C>G n.485C>G c.1087C>G (p.Gln363Glu) c.736-78C>G (n.736-78C>G) c.1024-3C>G (n.1024-3C>G) c.1069C>G (p.Gln357Glu) c.820C>G (p.Gln274Glu) | |
| 2 | g.219421406C>T | CA350694122 | DES | n.564C>T n.478C>T c.1090C>T (p.Gln364Ter) n.562C>T n.485C>T c.1087C>T (p.Gln363Ter) c.736-78C>T (n.736-78C>T) c.1024-3C>T (n.1024-3C>T) c.1069C>T (p.Gln357Ter) c.820C>T (p.Gln274Ter) | ClinVar dbSNP |
| 2 | g.219421407A>C | CA350694132 | DES | n.565A>C n.479A>C c.1091A>C (p.Gln364Pro) n.563A>C n.486A>C c.1088A>C (p.Gln363Pro) c.736-77A>C (n.736-77A>C) c.1024-2A>C (n.1024-2A>C) c.1070A>C (p.Gln357Pro) c.821A>C (p.Gln274Pro) | |
| 2 | g.219421407A>G | CA350694125 | DES | n.565A>G n.479A>G c.1091A>G (p.Gln364Arg) n.563A>G n.486A>G c.1088A>G (p.Gln363Arg) c.736-77A>G (n.736-77A>G) c.1024-2A>G (n.1024-2A>G) c.1070A>G (p.Gln357Arg) c.821A>G (p.Gln274Arg) | gnomAD v4 |
| 2 | g.219421407A>T | CA350694128 | DES | n.565A>T n.479A>T c.1091A>T (p.Gln364Leu) n.563A>T n.486A>T c.1088A>T (p.Gln363Leu) c.736-77A>T (n.736-77A>T) c.1024-2A>T (n.1024-2A>T) c.1070A>T (p.Gln357Leu) c.821A>T (p.Gln274Leu) | |
| 2 | g.219421408G>A | CA431284291 | DES | n.566G>A n.480G>A c.1092G>A (p.Gln364=) n.564G>A n.487G>A c.1089G>A (p.Gln363=) c.736-76G>A (n.736-76G>A) c.1024-1G>A (n.1024-1G>A) c.1071G>A (p.Gln357=) c.822G>A (p.Gln274=) | |
| 2 | g.219421408G>C | CA350694135 | DES | n.566G>C n.480G>C c.1092G>C (p.Gln364His) n.564G>C n.487G>C c.1089G>C (p.Gln363His) c.736-76G>C (n.736-76G>C) c.1024-1G>C (n.1024-1G>C) c.1071G>C (p.Gln357His) c.822G>C (p.Gln274His) | |
| 2 | g.219421408G>T | CA350694138 | DES | n.566G>T n.480G>T c.1092G>T (p.Gln364His) n.564G>T n.487G>T c.1089G>T (p.Gln363His) c.736-76G>T (n.736-76G>T) c.1024-1G>T (n.1024-1G>T) c.1071G>T (p.Gln357His) c.822G>T (p.Gln274His) | ClinVar |
| 2 | g.219421409G>A | CA350694140 | DES | n.567G>A n.481G>A c.1093G>A (p.Asp365Asn) n.565G>A n.488G>A c.1090G>A (p.Asp364Asn) c.736-75G>A (n.736-75G>A) c.1024G>A (p.Asp342Asn) c.1072G>A (p.Asp358Asn) c.823G>A (p.Asp275Asn) | |
| 2 | g.219421409G>C | CA350694143 | DES | n.567G>C n.481G>C c.1093G>C (p.Asp365His) n.565G>C n.488G>C c.1090G>C (p.Asp364His) c.736-75G>C (n.736-75G>C) c.1024G>C (p.Asp342His) c.1072G>C (p.Asp358His) c.823G>C (p.Asp275His) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219421409G= | CA1329211268 | DES | n.567G= n.481G= c.1093G= (p.Asp365=) n.565G= n.488G= c.1090G= (p.Asp364=) c.736-75G= (n.736-75G=) c.1024G= (p.Asp342=) c.1072G= (p.Asp358=) c.823G= (p.Asp275=) | |
| 2 | g.219421409G>T | CA350694151 | DES | n.567G>T n.481G>T c.1093G>T (p.Asp365Tyr) n.565G>T n.488G>T c.1090G>T (p.Asp364Tyr) c.736-75G>T (n.736-75G>T) c.1024G>T (p.Asp342Tyr) c.1072G>T (p.Asp358Tyr) c.823G>T (p.Asp275Tyr) | |
| 2 | g.219421409_219421412delinsGACA | CA1329211267 | DES | n.567_570delinsGACA n.481_484delinsGACA c.1093_1096delinsGACA (p.Asp365=) n.565_568delinsGACA n.488_491delinsGACA c.1090_1093delinsGACA (p.Asp364=) c.736-75_736-72delinsGACA (n.736-75_736-72delinsGACA) c.1024_1027delinsGACA (p.Asp342=) c.1072_1075delinsGACA (p.Asp358=) c.823_826delinsGACA (p.Asp275=) | |
| 2 | g.219421410A= | CA1329211269 | DES | n.568A= n.482A= c.1094A= (p.Asp365=) n.566A= n.489A= c.1091A= (p.Asp364=) c.736-74A= (n.736-74A=) c.1025A= (p.Asp342=) c.1073A= (p.Asp358=) c.824A= (p.Asp275=) | |
| 2 | g.219421410A>C | CA350694158 | DES | n.568A>C n.482A>C c.1094A>C (p.Asp365Ala) n.566A>C n.489A>C c.1091A>C (p.Asp364Ala) c.736-74A>C (n.736-74A>C) c.1025A>C (p.Asp342Ala) c.1073A>C (p.Asp358Ala) c.824A>C (p.Asp275Ala) | |
| 2 | g.219421410A>G | CA350694164 | DES | n.568A>G n.482A>G c.1094A>G (p.Asp365Gly) n.566A>G n.489A>G c.1091A>G (p.Asp364Gly) c.736-74A>G (n.736-74A>G) c.1025A>G (p.Asp342Gly) c.1073A>G (p.Asp358Gly) c.824A>G (p.Asp275Gly) | |
| 2 | g.219421410A>T | CA2125238 | DES | n.568A>T n.482A>T c.1094A>T (p.Asp365Val) n.566A>T n.489A>T c.1091A>T (p.Asp364Val) c.736-74A>T (n.736-74A>T) c.1025A>T (p.Asp342Val) c.1073A>T (p.Asp358Val) c.824A>T (p.Asp275Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.219421413_219421415del | CA217012 | DES | n.571_573del n.485_487del c.1097_1099del (p.Asn366del) n.569_571del n.492_494del c.1094_1096del (p.Asn365del) c.736-71_736-69del (n.736-71_736-69del) c.1028_1030del (p.Asn343del) c.1076_1078del (p.Asn359del) c.827_829del (p.Asn276del) | ClinVar dbSNP |
| 2 | g.219421411C>A | CA350694173 | DES | n.569C>A n.483C>A c.1095C>A (p.Asp365Glu) n.567C>A n.490C>A c.1092C>A (p.Asp364Glu) c.736-73C>A (n.736-73C>A) c.1026C>A (p.Asp342Glu) c.1074C>A (p.Asp358Glu) c.825C>A (p.Asp275Glu) | |
| 2 | g.219421411C>G | CA350694175 | DES | n.569C>G n.483C>G c.1095C>G (p.Asp365Glu) n.567C>G n.490C>G c.1092C>G (p.Asp364Glu) c.736-73C>G (n.736-73C>G) c.1026C>G (p.Asp342Glu) c.1074C>G (p.Asp358Glu) c.825C>G (p.Asp275Glu) | |
| 2 | g.219421411C>T | CA431284304 | DES | n.569C>T n.483C>T c.1095C>T (p.Asp365=) n.567C>T n.490C>T c.1092C>T (p.Asp364=) c.736-73C>T (n.736-73C>T) c.1026C>T (p.Asp342=) c.1074C>T (p.Asp358=) c.825C>T (p.Asp275=) | |
| 2 | g.219421412A>C | CA350694182 | DES | n.570A>C n.484A>C c.1096A>C (p.Asn366His) n.568A>C n.491A>C c.1093A>C (p.Asn365His) c.736-72A>C (n.736-72A>C) c.1027A>C (p.Asn343His) c.1075A>C (p.Asn359His) c.826A>C (p.Asn276His) | |
| 2 | g.219421412A>G | CA350694186 | DES | n.570A>G n.484A>G c.1096A>G (p.Asn366Asp) n.568A>G n.491A>G c.1093A>G (p.Asn365Asp) c.736-72A>G (n.736-72A>G) c.1027A>G (p.Asn343Asp) c.1075A>G (p.Asn359Asp) c.826A>G (p.Asn276Asp) | ClinVar gnomAD v4 |
| 2 | g.219421412A>T | CA350694180 | DES | n.570A>T n.484A>T c.1096A>T (p.Asn366Tyr) n.568A>T n.491A>T c.1093A>T (p.Asn365Tyr) c.736-72A>T (n.736-72A>T) c.1027A>T (p.Asn343Tyr) c.1075A>T (p.Asn359Tyr) c.826A>T (p.Asn276Tyr) | |
| 2 | g.219421413A= | CA1329211270 | DES | n.571A= n.485A= c.1097A= (p.Asn366=) n.569A= n.492A= c.1094A= (p.Asn365=) c.736-71A= (n.736-71A=) c.1028A= (p.Asn343=) c.1076A= (p.Asn359=) c.827A= (p.Asn276=) | |
| 2 | g.219421413A>C | CA350694191 | DES | n.571A>C n.485A>C c.1097A>C (p.Asn366Thr) n.569A>C n.492A>C c.1094A>C (p.Asn365Thr) c.736-71A>C (n.736-71A>C) c.1028A>C (p.Asn343Thr) c.1076A>C (p.Asn359Thr) c.827A>C (p.Asn276Thr) | |
| 2 | g.219421413A>G | CA350694194 | DES | n.571A>G n.485A>G c.1097A>G (p.Asn366Ser) n.569A>G n.492A>G c.1094A>G (p.Asn365Ser) c.736-71A>G (n.736-71A>G) c.1028A>G (p.Asn343Ser) c.1076A>G (p.Asn359Ser) c.827A>G (p.Asn276Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219421413A>T | CA350694197 | DES | n.571A>T n.485A>T c.1097A>T (p.Asn366Ile) n.569A>T n.492A>T c.1094A>T (p.Asn365Ile) c.736-71A>T (n.736-71A>T) c.1028A>T (p.Asn343Ile) c.1076A>T (p.Asn359Ile) c.827A>T (p.Asn276Ile) | |
| 2 | g.219421414C>A | CA350694201 | DES | n.572C>A n.486C>A c.1098C>A (p.Asn366Lys) n.570C>A n.493C>A c.1095C>A (p.Asn365Lys) c.736-70C>A (n.736-70C>A) c.1029C>A (p.Asn343Lys) c.1077C>A (p.Asn359Lys) c.828C>A (p.Asn276Lys) | |
| 2 | g.219421414C>G | CA350694205 | DES | n.572C>G n.486C>G c.1098C>G (p.Asn366Lys) n.570C>G n.493C>G c.1095C>G (p.Asn365Lys) c.736-70C>G (n.736-70C>G) c.1029C>G (p.Asn343Lys) c.1077C>G (p.Asn359Lys) c.828C>G (p.Asn276Lys) | |
| 2 | g.219421414C>T | CA431284314 | DES | n.572C>T n.486C>T c.1098C>T (p.Asn366=) n.570C>T n.493C>T c.1095C>T (p.Asn365=) c.736-70C>T (n.736-70C>T) c.1029C>T (p.Asn343=) c.1077C>T (p.Asn359=) c.828C>T (p.Asn276=) | |
| 2 | g.219421415A= | CA1329211271 | DES | n.573A= n.487A= c.1099A= (p.Ile367=) n.571A= n.494A= c.1096A= (p.Ile366=) c.736-69A= (n.736-69A=) c.1030A= (p.Ile344=) c.1078A= (p.Ile360=) c.829A= (p.Ile277=) | |
| 2 | g.219421415A>C | CA2125239 | DES | n.573A>C n.487A>C c.1099A>C (p.Ile367Leu) n.571A>C n.494A>C c.1096A>C (p.Ile366Leu) c.736-69A>C (n.736-69A>C) c.1030A>C (p.Ile344Leu) c.1078A>C (p.Ile360Leu) c.829A>C (p.Ile277Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219421415A>G | CA2125240 | DES | n.573A>G n.487A>G c.1099A>G (p.Ile367Val) n.571A>G n.494A>G c.1096A>G (p.Ile366Val) c.736-69A>G (n.736-69A>G) c.1030A>G (p.Ile344Val) c.1078A>G (p.Ile360Val) c.829A>G (p.Ile277Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219421415A>T | CA217015 | DES | n.573A>T n.487A>T c.1099A>T (p.Ile367Phe) n.571A>T n.494A>T c.1096A>T (p.Ile366Phe) c.736-69A>T (n.736-69A>T) c.1030A>T (p.Ile344Phe) c.1078A>T (p.Ile360Phe) c.829A>T (p.Ile277Phe) | ClinVar dbSNP |
| 2 | g.219421416T>A | CA350694216 | DES | n.574T>A n.488T>A c.1100T>A (p.Ile367Asn) n.572T>A n.495T>A c.1097T>A (p.Ile366Asn) c.736-68T>A (n.736-68T>A) c.1031T>A (p.Ile344Asn) c.1079T>A (p.Ile360Asn) c.830T>A (p.Ile277Asn) | |
| 2 | g.219421416T>C | CA350694218 | DES | n.574T>C n.488T>C c.1100T>C (p.Ile367Thr) n.572T>C n.495T>C c.1097T>C (p.Ile366Thr) c.736-68T>C (n.736-68T>C) c.1031T>C (p.Ile344Thr) c.1079T>C (p.Ile360Thr) c.830T>C (p.Ile277Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219421416T>G | CA350694220 | DES | n.574T>G n.488T>G c.1100T>G (p.Ile367Ser) n.572T>G n.495T>G c.1097T>G (p.Ile366Ser) c.736-68T>G (n.736-68T>G) c.1031T>G (p.Ile344Ser) c.1079T>G (p.Ile360Ser) c.830T>G (p.Ile277Ser) | |
| 2 | g.219421416T= | CA1329211272 | DES | n.574T= n.488T= c.1100T= (p.Ile367=) n.572T= n.495T= c.1097T= (p.Ile366=) c.736-68T= (n.736-68T=) c.1031T= (p.Ile344=) c.1079T= (p.Ile360=) c.830T= (p.Ile277=) |