UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756113_48756145del | CA2628343373 | CEP152 | c.3107_3139del (p.Gln1036_Ile1046del) c.2828_2860del (p.Gln943_Ile953del) c.1148_1180del (p.Gln383_Ile393del) c.1142_1174del (p.Gln381_Ile391del) n.4072_4104del n.4058_4090del | gnomAD v4 |
| 15 | g.48756133T>A | CA392342529 | CEP152 | c.3115A>T (p.Ile1039Phe) c.2836A>T (p.Ile946Phe) c.1156A>T (p.Ile386Phe) c.1150A>T (p.Ile384Phe) n.4080A>T n.4066A>T | |
| 15 | g.48756133T>C | CA392342531 | CEP152 | c.3115A>G (p.Ile1039Val) c.2836A>G (p.Ile946Val) c.1156A>G (p.Ile386Val) c.1150A>G (p.Ile384Val) n.4080A>G n.4066A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756133T>G | CA392342533 | CEP152 | c.3115A>C (p.Ile1039Leu) c.2836A>C (p.Ile946Leu) c.1156A>C (p.Ile386Leu) c.1150A>C (p.Ile384Leu) n.4080A>C n.4066A>C | |
| 15 | g.48756133T= | CA2175628581 | CEP152 | c.3115A= (p.Ile1039=) c.2836A= (p.Ile946=) c.1156A= (p.Ile386=) c.1150A= (p.Ile384=) n.4080A= n.4066A= | |
| 15 | g.48756134T>A | CA392342535 | CEP152 | c.3114A>T (p.Glu1038Asp) c.2835A>T (p.Glu945Asp) c.1155A>T (p.Glu385Asp) c.1149A>T (p.Glu383Asp) n.4079A>T n.4065A>T | |
| 15 | g.48756134T>C | CA490311213 | CEP152 | c.3114A>G (p.Glu1038=) c.2835A>G (p.Glu945=) c.1155A>G (p.Glu385=) c.1149A>G (p.Glu383=) n.4079A>G n.4065A>G | |
| 15 | g.48756134T>G | CA392342538 | CEP152 | c.3114A>C (p.Glu1038Asp) c.2835A>C (p.Glu945Asp) c.1155A>C (p.Glu385Asp) c.1149A>C (p.Glu383Asp) n.4079A>C n.4065A>C | |
| 15 | g.48756135T>A | CA392342541 | CEP152 | c.3113A>T (p.Glu1038Val) c.2834A>T (p.Glu945Val) c.1154A>T (p.Glu385Val) c.1148A>T (p.Glu383Val) n.4078A>T n.4064A>T | |
| 15 | g.48756135T>C | CA392342546 | CEP152 | c.3113A>G (p.Glu1038Gly) c.2834A>G (p.Glu945Gly) c.1154A>G (p.Glu385Gly) c.1148A>G (p.Glu383Gly) n.4078A>G n.4064A>G | |
| 15 | g.48756135T>G | CA392342544 | CEP152 | c.3113A>C (p.Glu1038Ala) c.2834A>C (p.Glu945Ala) c.1154A>C (p.Glu385Ala) c.1148A>C (p.Glu383Ala) n.4078A>C n.4064A>C | |
| 15 | g.48756136C>A | CA392342548 | CEP152 | c.3112G>T (p.Glu1038Ter) c.2833G>T (p.Glu945Ter) c.1153G>T (p.Glu385Ter) c.1147G>T (p.Glu383Ter) n.4077G>T n.4063G>T | |
| 15 | g.48756136C>G | CA392342553 | CEP152 | c.3112G>C (p.Glu1038Gln) c.2833G>C (p.Glu945Gln) c.1153G>C (p.Glu385Gln) c.1147G>C (p.Glu383Gln) n.4077G>C n.4063G>C | |
| 15 | g.48756136C>T | CA392342550 | CEP152 | c.3112G>A (p.Glu1038Lys) c.2833G>A (p.Glu945Lys) c.1153G>A (p.Glu385Lys) c.1147G>A (p.Glu383Lys) n.4077G>A n.4063G>A | |
| 15 | g.48756137C>A | CA490311216 | CEP152 | c.3111G>T (p.Leu1037=) c.2832G>T (p.Leu944=) c.1152G>T (p.Leu384=) c.1146G>T (p.Leu382=) n.4076G>T n.4062G>T | |
| 15 | g.48756137C= | CA2175628584 | CEP152 | c.3111G= (p.Leu1037=) c.2832G= (p.Leu944=) c.1152G= (p.Leu384=) c.1146G= (p.Leu382=) n.4076G= n.4062G= | |
| 15 | g.48756137C>G | CA490311214 | CEP152 | c.3111G>C (p.Leu1037=) c.2832G>C (p.Leu944=) c.1152G>C (p.Leu384=) c.1146G>C (p.Leu382=) n.4076G>C n.4062G>C | |
| 15 | g.48756137C>T | CA490311215 | CEP152 | c.3111G>A (p.Leu1037=) c.2832G>A (p.Leu944=) c.1152G>A (p.Leu384=) c.1146G>A (p.Leu382=) n.4076G>A n.4062G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756138A>C | CA392342554 | CEP152 | c.3110T>G (p.Leu1037Arg) c.2831T>G (p.Leu944Arg) c.1151T>G (p.Leu384Arg) c.1145T>G (p.Leu382Arg) n.4075T>G n.4061T>G | |
| 15 | g.48756138A>G | CA392342559 | CEP152 | c.3110T>C (p.Leu1037Pro) c.2831T>C (p.Leu944Pro) c.1151T>C (p.Leu384Pro) c.1145T>C (p.Leu382Pro) n.4075T>C n.4061T>C | |
| 15 | g.48756138A>T | CA392342556 | CEP152 | c.3110T>A (p.Leu1037Gln) c.2831T>A (p.Leu944Gln) c.1151T>A (p.Leu384Gln) c.1145T>A (p.Leu382Gln) n.4075T>A n.4061T>A | |
| 15 | g.48756139G>A | CA7548417 | CEP152 | c.3109C>T (p.Leu1037=) c.2830C>T (p.Leu944=) c.1150C>T (p.Leu384=) c.1144C>T (p.Leu382=) n.4074C>T n.4060C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756139G>C | CA392342565 | CEP152 | c.3109C>G (p.Leu1037Val) c.2830C>G (p.Leu944Val) c.1150C>G (p.Leu384Val) c.1144C>G (p.Leu382Val) n.4074C>G n.4060C>G | |
| 15 | g.48756139G= | CA2175628586 | CEP152 | c.3109C= (p.Leu1037=) c.2830C= (p.Leu944=) c.1150C= (p.Leu384=) c.1144C= (p.Leu382=) n.4074C= n.4060C= | |
| 15 | g.48756139G>T | CA392342562 | CEP152 | c.3109C>A (p.Leu1037Met) c.2830C>A (p.Leu944Met) c.1150C>A (p.Leu384Met) c.1144C>A (p.Leu382Met) n.4074C>A n.4060C>A | dbSNP |
| 15 | g.48756140T>A | CA392342569 | CEP152 | c.3108A>T (p.Gln1036His) c.2829A>T (p.Gln943His) c.1149A>T (p.Gln383His) c.1143A>T (p.Gln381His) n.4073A>T n.4059A>T | |
| 15 | g.48756140T>C | CA490311217 | CEP152 | c.3108A>G (p.Gln1036=) c.2829A>G (p.Gln943=) c.1149A>G (p.Gln383=) c.1143A>G (p.Gln381=) n.4073A>G n.4059A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756140T>G | CA392342571 | CEP152 | c.3108A>C (p.Gln1036His) c.2829A>C (p.Gln943His) c.1149A>C (p.Gln383His) c.1143A>C (p.Gln381His) n.4073A>C n.4059A>C | gnomAD v4 |
| 15 | g.48756140T= | CA2175628589 | CEP152 | c.3108A= (p.Gln1036=) c.2829A= (p.Gln943=) c.1149A= (p.Gln383=) c.1143A= (p.Gln381=) n.4073A= n.4059A= | |
| 15 | g.48756141T>A | CA392342574 | CEP152 | c.3107A>T (p.Gln1036Leu) c.2828A>T (p.Gln943Leu) c.1148A>T (p.Gln383Leu) c.1142A>T (p.Gln381Leu) n.4072A>T n.4058A>T | |
| 15 | g.48756141T>C | CA392342575 | CEP152 | c.3107A>G (p.Gln1036Arg) c.2828A>G (p.Gln943Arg) c.1148A>G (p.Gln383Arg) c.1142A>G (p.Gln381Arg) n.4072A>G n.4058A>G | gnomAD v4 |
| 15 | g.48756141T>G | CA392342577 | CEP152 | c.3107A>C (p.Gln1036Pro) c.2828A>C (p.Gln943Pro) c.1148A>C (p.Gln383Pro) c.1142A>C (p.Gln381Pro) n.4072A>C n.4058A>C | |
| 15 | g.48756142G>A | CA392342580 | CEP152 | c.3106C>T (p.Gln1036Ter) c.2827C>T (p.Gln943Ter) c.1147C>T (p.Gln383Ter) c.1141C>T (p.Gln381Ter) n.4071C>T n.4057C>T | |
| 15 | g.48756142G>C | CA392342583 | CEP152 | c.3106C>G (p.Gln1036Glu) c.2827C>G (p.Gln943Glu) c.1147C>G (p.Gln383Glu) c.1141C>G (p.Gln381Glu) n.4071C>G n.4057C>G | |
| 15 | g.48756142G>T | CA392342584 | CEP152 | c.3106C>A (p.Gln1036Lys) c.2827C>A (p.Gln943Lys) c.1147C>A (p.Gln383Lys) c.1141C>A (p.Gln381Lys) n.4071C>A n.4057C>A | |
| 15 | g.48756143G>A | CA490311219 | CEP152 | c.3105C>T (p.Ile1035=) c.2826C>T (p.Ile942=) c.1146C>T (p.Ile382=) c.1140C>T (p.Ile380=) n.4070C>T n.4056C>T | dbSNP gnomAD v4 |
| 15 | g.48756143G>C | CA392342586 | CEP152 | c.3105C>G (p.Ile1035Met) c.2826C>G (p.Ile942Met) c.1146C>G (p.Ile382Met) c.1140C>G (p.Ile380Met) n.4070C>G n.4056C>G | |
| 15 | g.48756143G= | CA2175628592 | CEP152 | c.3105C= (p.Ile1035=) c.2826C= (p.Ile942=) c.1146C= (p.Ile382=) c.1140C= (p.Ile380=) n.4070C= n.4056C= | |
| 15 | g.48756143G>T | CA490311218 | CEP152 | c.3105C>A (p.Ile1035=) c.2826C>A (p.Ile942=) c.1146C>A (p.Ile382=) c.1140C>A (p.Ile380=) n.4070C>A n.4056C>A | |
| 15 | g.48756144A>C | CA392342590 | CEP152 | c.3104T>G (p.Ile1035Ser) c.2825T>G (p.Ile942Ser) c.1145T>G (p.Ile382Ser) c.1139T>G (p.Ile380Ser) n.4069T>G n.4055T>G | |
| 15 | g.48756144A>G | CA392342593 | CEP152 | c.3104T>C (p.Ile1035Thr) c.2825T>C (p.Ile942Thr) c.1145T>C (p.Ile382Thr) c.1139T>C (p.Ile380Thr) n.4069T>C n.4055T>C | |
| 15 | g.48756144A>T | CA392342594 | CEP152 | c.3104T>A (p.Ile1035Asn) c.2825T>A (p.Ile942Asn) c.1145T>A (p.Ile382Asn) c.1139T>A (p.Ile380Asn) n.4069T>A n.4055T>A | |
| 15 | g.48756145T>A | CA392342595 | CEP152 | c.3103A>T (p.Ile1035Phe) c.2824A>T (p.Ile942Phe) c.1144A>T (p.Ile382Phe) c.1138A>T (p.Ile380Phe) n.4068A>T n.4054A>T | |
| 15 | g.48756145T>C | CA392342596 | CEP152 | c.3103A>G (p.Ile1035Val) c.2824A>G (p.Ile942Val) c.1144A>G (p.Ile382Val) c.1138A>G (p.Ile380Val) n.4068A>G n.4054A>G | gnomAD v4 |
| 15 | g.48756145T>G | CA392342597 | CEP152 | c.3103A>C (p.Ile1035Leu) c.2824A>C (p.Ile942Leu) c.1144A>C (p.Ile382Leu) c.1138A>C (p.Ile380Leu) n.4068A>C n.4054A>C | |
| 15 | g.48756146C>A | CA490311220 | CEP152 | c.3102G>T (p.Arg1034=) c.2823G>T (p.Arg941=) c.1143G>T (p.Arg381=) c.1137G>T (p.Arg379=) n.4067G>T n.4053G>T | |
| 15 | g.48756146C>G | CA490311221 | CEP152 | c.3102G>C (p.Arg1034=) c.2823G>C (p.Arg941=) c.1143G>C (p.Arg381=) c.1137G>C (p.Arg379=) n.4067G>C n.4053G>C | |
| 15 | g.48756146C>T | CA490311222 | CEP152 | c.3102G>A (p.Arg1034=) c.2823G>A (p.Arg941=) c.1143G>A (p.Arg381=) c.1137G>A (p.Arg379=) n.4067G>A n.4053G>A | |
| 15 | g.48756147C>A | CA392342601 | CEP152 | c.3101G>T (p.Arg1034Leu) c.2822G>T (p.Arg941Leu) c.1142G>T (p.Arg381Leu) c.1136G>T (p.Arg379Leu) n.4066G>T n.4052G>T | |
| 15 | g.48756147C= | CA2175628596 | CEP152 | c.3101G= (p.Arg1034=) c.2822G= (p.Arg941=) c.1142G= (p.Arg381=) c.1136G= (p.Arg379=) n.4066G= n.4052G= |