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.26473999G>A | CA345117 | OTOF | c.3400C>T (p.Arg1134Ter) c.1159C>T (p.Arg387Ter) c.1330C>T (p.Arg444Ter) c.3445C>T (p.Arg1149Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26473999G>C | CA346107024 | OTOF | c.3400C>G (p.Arg1134Gly) c.1159C>G (p.Arg387Gly) c.1330C>G (p.Arg444Gly) c.3445C>G (p.Arg1149Gly) | gnomAD v4 |
| 2 | g.26473999G= | CA1239824686 | OTOF | c.3400C= (p.Arg1134=) c.1159C= (p.Arg387=) c.1330C= (p.Arg444=) c.3445C= (p.Arg1149=) | |
| 2 | g.26473999G>T | CA425203348 | OTOF | c.3400C>A (p.Arg1134=) c.1159C>A (p.Arg387=) c.1330C>A (p.Arg444=) c.3445C>A (p.Arg1149=) | |
| 2 | g.26474000G>A | CA425203349 | OTOF | c.3399C>T (p.Tyr1133=) c.1158C>T (p.Tyr386=) c.1329C>T (p.Tyr443=) c.3444C>T (p.Tyr1148=) | gnomAD v4 |
| 2 | g.26474000G>C | CA346107033 | OTOF | c.3399C>G (p.Tyr1133Ter) c.1158C>G (p.Tyr386Ter) c.1329C>G (p.Tyr443Ter) c.3444C>G (p.Tyr1148Ter) | |
| 2 | g.26474000G= | CA1239824691 | OTOF | c.3399C= (p.Tyr1133=) c.1158C= (p.Tyr386=) c.1329C= (p.Tyr443=) c.3444C= (p.Tyr1148=) | |
| 2 | g.26474000G>T | CA346107037 | OTOF | c.3399C>A (p.Tyr1133Ter) c.1158C>A (p.Tyr386Ter) c.1329C>A (p.Tyr443Ter) c.3444C>A (p.Tyr1148Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26474001T>A | CA346107041 | OTOF | c.3398A>T (p.Tyr1133Phe) c.1157A>T (p.Tyr386Phe) c.1328A>T (p.Tyr443Phe) c.3443A>T (p.Tyr1148Phe) | |
| 2 | g.26474001T>C | CA346107044 | OTOF | c.3398A>G (p.Tyr1133Cys) c.1157A>G (p.Tyr386Cys) c.1328A>G (p.Tyr443Cys) c.3443A>G (p.Tyr1148Cys) | |
| 2 | g.26474001T>G | CA346107048 | OTOF | c.3398A>C (p.Tyr1133Ser) c.1157A>C (p.Tyr386Ser) c.1328A>C (p.Tyr443Ser) c.3443A>C (p.Tyr1148Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26474001T= | CA1239824694 | OTOF | c.3398A= (p.Tyr1133=) c.1157A= (p.Tyr386=) c.1328A= (p.Tyr443=) c.3443A= (p.Tyr1148=) | |
| 2 | g.26474002A>C | CA346107055 | OTOF | c.3397T>G (p.Tyr1133Asp) c.1156T>G (p.Tyr386Asp) c.1327T>G (p.Tyr443Asp) c.3442T>G (p.Tyr1148Asp) | |
| 2 | g.26474002A>G | CA346107065 | OTOF | c.3397T>C (p.Tyr1133His) c.1156T>C (p.Tyr386His) c.1327T>C (p.Tyr443His) c.3442T>C (p.Tyr1148His) | |
| 2 | g.26474002A>T | CA346107069 | OTOF | c.3397T>A (p.Tyr1133Asn) c.1156T>A (p.Tyr386Asn) c.1327T>A (p.Tyr443Asn) c.3442T>A (p.Tyr1148Asn) | |
| 2 | g.26474003C>A | CA346107074 | OTOF | c.3396G>T (p.Lys1132Asn) c.1155G>T (p.Lys385Asn) c.1326G>T (p.Lys442Asn) c.3441G>T (p.Lys1147Asn) | |
| 2 | g.26474003C= | CA1239824699 | OTOF | c.3396G= (p.Lys1132=) c.1155G= (p.Lys385=) c.1326G= (p.Lys442=) c.3441G= (p.Lys1147=) | |
| 2 | g.26474003C>G | CA1563571 | OTOF | c.3396G>C (p.Lys1132Asn) c.1155G>C (p.Lys385Asn) c.1326G>C (p.Lys442Asn) c.3441G>C (p.Lys1147Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26474003C>T | CA425203351 | OTOF | c.3396G>A (p.Lys1132=) c.1155G>A (p.Lys385=) c.1326G>A (p.Lys442=) c.3441G>A (p.Lys1147=) | |
| 2 | g.26474004T>A | CA346107082 | OTOF | c.3395A>T (p.Lys1132Met) c.1154A>T (p.Lys385Met) c.1325A>T (p.Lys442Met) c.3440A>T (p.Lys1147Met) | |
| 2 | g.26474004T>C | CA346107085 | OTOF | c.3395A>G (p.Lys1132Arg) c.1154A>G (p.Lys385Arg) c.1325A>G (p.Lys442Arg) c.3440A>G (p.Lys1147Arg) | gnomAD v4 |
| 2 | g.26474004T>G | CA346107089 | OTOF | c.3395A>C (p.Lys1132Thr) c.1154A>C (p.Lys385Thr) c.1325A>C (p.Lys442Thr) c.3440A>C (p.Lys1147Thr) | |
| 2 | g.26474005T>A | CA346107097 | OTOF | c.3394A>T (p.Lys1132Ter) c.1153A>T (p.Lys385Ter) c.1324A>T (p.Lys442Ter) c.3439A>T (p.Lys1147Ter) | |
| 2 | g.26474005T>C | CA346107126 | OTOF | c.3394A>G (p.Lys1132Glu) c.1153A>G (p.Lys385Glu) c.1324A>G (p.Lys442Glu) c.3439A>G (p.Lys1147Glu) | |
| 2 | g.26474005T>G | CA346107111 | OTOF | c.3394A>C (p.Lys1132Gln) c.1153A>C (p.Lys385Gln) c.1324A>C (p.Lys442Gln) c.3439A>C (p.Lys1147Gln) | |
| 2 | g.26474006G>A | CA425203352 | OTOF | c.3393C>T (p.Ser1131=) c.1152C>T (p.Ser384=) c.1323C>T (p.Ser441=) c.3438C>T (p.Ser1146=) | |
| 2 | g.26474006G>C | CA346107136 | OTOF | c.3393C>G (p.Ser1131Arg) c.1152C>G (p.Ser384Arg) c.1323C>G (p.Ser441Arg) c.3438C>G (p.Ser1146Arg) | |
| 2 | g.26474006G>T | CA346107137 | OTOF | c.3393C>A (p.Ser1131Arg) c.1152C>A (p.Ser384Arg) c.1323C>A (p.Ser441Arg) c.3438C>A (p.Ser1146Arg) | |
| 2 | g.26474007C>A | CA346107144 | OTOF | c.3392G>T (p.Ser1131Ile) c.1151G>T (p.Ser384Ile) c.1322G>T (p.Ser441Ile) c.3437G>T (p.Ser1146Ile) | |
| 2 | g.26474007C>G | CA346107163 | OTOF | c.3392G>C (p.Ser1131Thr) c.1151G>C (p.Ser384Thr) c.1322G>C (p.Ser441Thr) c.3437G>C (p.Ser1146Thr) | |
| 2 | g.26474007C>T | CA346107156 | OTOF | c.3392G>A (p.Ser1131Asn) c.1151G>A (p.Ser384Asn) c.1322G>A (p.Ser441Asn) c.3437G>A (p.Ser1146Asn) | |
| 2 | g.26474008T>A | CA346107169 | OTOF | c.3391A>T (p.Ser1131Cys) c.1150A>T (p.Ser384Cys) c.1321A>T (p.Ser441Cys) c.3436A>T (p.Ser1146Cys) | |
| 2 | g.26474008T>C | CA346107175 | OTOF | c.3391A>G (p.Ser1131Gly) c.1150A>G (p.Ser384Gly) c.1321A>G (p.Ser441Gly) c.3436A>G (p.Ser1146Gly) | |
| 2 | g.26474008T>G | CA346107179 | OTOF | c.3391A>C (p.Ser1131Arg) c.1150A>C (p.Ser384Arg) c.1321A>C (p.Ser441Arg) c.3436A>C (p.Ser1146Arg) | |
| 2 | g.26474009G>A | CA44397152 | OTOF | c.3390C>T (p.Leu1130=) c.1149C>T (p.Leu383=) c.1320C>T (p.Leu440=) c.3435C>T (p.Leu1145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26474009G>C | CA425203353 | OTOF | c.3390C>G (p.Leu1130=) c.1149C>G (p.Leu383=) c.1320C>G (p.Leu440=) c.3435C>G (p.Leu1145=) | |
| 2 | g.26474009G= | CA1239824702 | OTOF | c.3390C= (p.Leu1130=) c.1149C= (p.Leu383=) c.1320C= (p.Leu440=) c.3435C= (p.Leu1145=) | |
| 2 | g.26474009G>T | CA425203354 | OTOF | c.3390C>A (p.Leu1130=) c.1149C>A (p.Leu383=) c.1320C>A (p.Leu440=) c.3435C>A (p.Leu1145=) | |
| 2 | g.26474010A>C | CA346107180 | OTOF | c.3389T>G (p.Leu1130Arg) c.1148T>G (p.Leu383Arg) c.1319T>G (p.Leu440Arg) c.3434T>G (p.Leu1145Arg) | |
| 2 | g.26474010A>G | CA346107183 | OTOF | c.3389T>C (p.Leu1130Pro) c.1148T>C (p.Leu383Pro) c.1319T>C (p.Leu440Pro) c.3434T>C (p.Leu1145Pro) | |
| 2 | g.26474010A>T | CA346107186 | OTOF | c.3389T>A (p.Leu1130His) c.1148T>A (p.Leu383His) c.1319T>A (p.Leu440His) c.3434T>A (p.Leu1145His) | |
| 2 | g.26474011G>A | CA346107190 | OTOF | c.3388C>T (p.Leu1130Phe) c.1147C>T (p.Leu383Phe) c.1318C>T (p.Leu440Phe) c.3433C>T (p.Leu1145Phe) | |
| 2 | g.26474011G>C | CA346107192 | OTOF | c.3388C>G (p.Leu1130Val) c.1147C>G (p.Leu383Val) c.1318C>G (p.Leu440Val) c.3433C>G (p.Leu1145Val) | |
| 2 | g.26474011G>T | CA346107198 | OTOF | c.3388C>A (p.Leu1130Ile) c.1147C>A (p.Leu383Ile) c.1318C>A (p.Leu440Ile) c.3433C>A (p.Leu1145Ile) | |
| 2 | g.26474019_26474039del | CA2586968808 | OTOF | c.3368_3388del (p.Pro1123_Val1129del) c.1127_1147del (p.Pro376_Val382del) c.1298_1318del (p.Pro433_Val439del) c.3413_3433del (p.Pro1138_Val1144del) | |
| 2 | g.26474012C>A | CA425203355 | OTOF | c.3387G>T (p.Val1129=) c.1146G>T (p.Val382=) c.1317G>T (p.Val439=) c.3432G>T (p.Val1144=) | COSMIC COSMIC COSMIC |
| 2 | g.26474012C>G | CA425203357 | OTOF | c.3387G>C (p.Val1129=) c.1146G>C (p.Val382=) c.1317G>C (p.Val439=) c.3432G>C (p.Val1144=) | |
| 2 | g.26474012C>T | CA425203356 | OTOF | c.3387G>A (p.Val1129=) c.1146G>A (p.Val382=) c.1317G>A (p.Val439=) c.3432G>A (p.Val1144=) | |
| 2 | g.26474013A>C | CA346107202 | OTOF | c.3386T>G (p.Val1129Gly) c.1145T>G (p.Val382Gly) c.1316T>G (p.Val439Gly) c.3431T>G (p.Val1144Gly) | |
| 2 | g.26474013A>G | CA346107203 | OTOF | c.3386T>C (p.Val1129Ala) c.1145T>C (p.Val382Ala) c.1316T>C (p.Val439Ala) c.3431T>C (p.Val1144Ala) |