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.211702102C>A | CA350442465 | ERBB4 | c.1354G>T (p.Glu452Ter) c.1276G>T (p.Glu426Ter) c.1353G>T c.1177G>T (p.Glu393Ter) n.1406G>T c.1432G>T (p.Glu478Ter) c.733G>T (p.Glu245Ter) | dbSNP |
| 2 | g.211702102C= | CA1325614791 | ERBB4 | c.1354G= (p.Glu452=) c.1276G= (p.Glu426=) c.1353G= c.1177G= (p.Glu393=) n.1406G= c.1432G= (p.Glu478=) c.733G= (p.Glu245=) | |
| 2 | g.211702102C>G | CA350442466 | ERBB4 | c.1354G>C (p.Glu452Gln) c.1276G>C (p.Glu426Gln) c.1353G>C c.1177G>C (p.Glu393Gln) n.1406G>C c.1432G>C (p.Glu478Gln) c.733G>C (p.Glu245Gln) | |
| 2 | g.211702102C>T | CA16602262 | ERBB4 | c.1354G>A (p.Glu452Lys) c.1276G>A (p.Glu426Lys) c.1353G>A c.1177G>A (p.Glu393Lys) n.1406G>A c.1432G>A (p.Glu478Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.211702103C>A | CA350442468 | ERBB4 | c.1353G>T (p.Lys451Asn) c.1275G>T (p.Lys425Asn) c.1352G>T c.1176G>T (p.Lys392Asn) n.1405G>T c.1431G>T (p.Lys477Asn) c.732G>T (p.Lys244Asn) | |
| 2 | g.211702103C>G | CA350442467 | ERBB4 | c.1353G>C (p.Lys451Asn) c.1275G>C (p.Lys425Asn) c.1352G>C c.1176G>C (p.Lys392Asn) n.1405G>C c.1431G>C (p.Lys477Asn) c.732G>C (p.Lys244Asn) | |
| 2 | g.211702103C>T | CA431130996 | ERBB4 | c.1353G>A (p.Lys451=) c.1275G>A (p.Lys425=) c.1352G>A c.1176G>A (p.Lys392=) n.1405G>A c.1431G>A (p.Lys477=) c.732G>A (p.Lys244=) | dbSNP COSMIC COSMIC |
| 2 | g.211702104T>A | CA350442469 | ERBB4 | c.1352A>T (p.Lys451Met) c.1274A>T (p.Lys425Met) c.1351A>T c.1175A>T (p.Lys392Met) n.1404A>T c.1430A>T (p.Lys477Met) c.731A>T (p.Lys244Met) | |
| 2 | g.211702104T>C | CA350442470 | ERBB4 | c.1352A>G (p.Lys451Arg) c.1274A>G (p.Lys425Arg) c.1351A>G c.1175A>G (p.Lys392Arg) n.1404A>G c.1430A>G (p.Lys477Arg) c.731A>G (p.Lys244Arg) | gnomAD v4 |
| 2 | g.211702104T>G | CA350442471 | ERBB4 | c.1352A>C (p.Lys451Thr) c.1274A>C (p.Lys425Thr) c.1351A>C c.1175A>C (p.Lys392Thr) n.1404A>C c.1430A>C (p.Lys477Thr) c.731A>C (p.Lys244Thr) | |
| 2 | g.211702105T>A | CA350442472 | ERBB4 | c.1351A>T (p.Lys451Ter) c.1273A>T (p.Lys425Ter) c.1350A>T c.1174A>T (p.Lys392Ter) n.1403A>T c.1429A>T (p.Lys477Ter) c.730A>T (p.Lys244Ter) | |
| 2 | g.211702105T>C | CA350442473 | ERBB4 | c.1351A>G (p.Lys451Glu) c.1273A>G (p.Lys425Glu) c.1350A>G c.1174A>G (p.Lys392Glu) n.1403A>G c.1429A>G (p.Lys477Glu) c.730A>G (p.Lys244Glu) | |
| 2 | g.211702105T>G | CA350442474 | ERBB4 | c.1351A>C (p.Lys451Gln) c.1273A>C (p.Lys425Gln) c.1350A>C c.1174A>C (p.Lys392Gln) n.1403A>C c.1429A>C (p.Lys477Gln) c.730A>C (p.Lys244Gln) | |
| 2 | g.211702106C>A | CA431131007 | ERBB4 | c.1350G>T (p.Leu450=) c.1272G>T (p.Leu424=) c.1349G>T c.1173G>T (p.Leu391=) n.1402G>T c.1428G>T (p.Leu476=) c.729G>T (p.Leu243=) | dbSNP |
| 2 | g.211702106C= | CA1325614792 | ERBB4 | c.1350G= (p.Leu450=) c.1272G= (p.Leu424=) c.1349G= c.1173G= (p.Leu391=) n.1402G= c.1428G= (p.Leu476=) c.729G= (p.Leu243=) | |
| 2 | g.211702106C>G | CA431131012 | ERBB4 | c.1350G>C (p.Leu450=) c.1272G>C (p.Leu424=) c.1349G>C c.1173G>C (p.Leu391=) n.1402G>C c.1428G>C (p.Leu476=) c.729G>C (p.Leu243=) | dbSNP |
| 2 | g.211702106C>T | CA64751959 | ERBB4 | c.1350G>A (p.Leu450=) c.1272G>A (p.Leu424=) c.1349G>A c.1173G>A (p.Leu391=) n.1402G>A c.1428G>A (p.Leu476=) c.729G>A (p.Leu243=) | dbSNP COSMIC |
| 2 | g.211702107A>C | CA350442475 | ERBB4 | c.1349T>G (p.Leu450Arg) c.1271T>G (p.Leu424Arg) c.1348T>G c.1172T>G (p.Leu391Arg) n.1401T>G c.1427T>G (p.Leu476Arg) c.728T>G (p.Leu243Arg) | |
| 2 | g.211702107A>G | CA350442476 | ERBB4 | c.1349T>C (p.Leu450Pro) c.1271T>C (p.Leu424Pro) c.1348T>C c.1172T>C (p.Leu391Pro) n.1401T>C c.1427T>C (p.Leu476Pro) c.728T>C (p.Leu243Pro) | |
| 2 | g.211702107A>T | CA350442477 | ERBB4 | c.1349T>A (p.Leu450Gln) c.1271T>A (p.Leu424Gln) c.1348T>A c.1172T>A (p.Leu391Gln) n.1401T>A c.1427T>A (p.Leu476Gln) c.728T>A (p.Leu243Gln) | |
| 2 | g.211702108G>A | CA431131022 | ERBB4 | c.1348C>T (p.Leu450=) c.1270C>T (p.Leu424=) c.1347C>T c.1171C>T (p.Leu391=) n.1400C>T c.1426C>T (p.Leu476=) c.727C>T (p.Leu243=) | dbSNP |
| 2 | g.211702108G>C | CA350442479 | ERBB4 | c.1348C>G (p.Leu450Val) c.1270C>G (p.Leu424Val) c.1347C>G c.1171C>G (p.Leu391Val) n.1400C>G c.1426C>G (p.Leu476Val) c.727C>G (p.Leu243Val) | dbSNP |
| 2 | g.211702108G= | CA1325614793 | ERBB4 | c.1348C= (p.Leu450=) c.1270C= (p.Leu424=) c.1347C= c.1171C= (p.Leu391=) n.1400C= c.1426C= (p.Leu476=) c.727C= (p.Leu243=) | |
| 2 | g.211702108G>T | CA350442480 | ERBB4 | c.1348C>A (p.Leu450Met) c.1270C>A (p.Leu424Met) c.1347C>A c.1171C>A (p.Leu391Met) n.1400C>A c.1426C>A (p.Leu476Met) c.727C>A (p.Leu243Met) | |
| 2 | g.211702109G>A | CA431131024 | ERBB4 | c.1347C>T (p.Ser449=) c.1269C>T (p.Ser423=) c.1346C>T c.1170C>T (p.Ser390=) n.1399C>T c.1425C>T (p.Ser475=) c.726C>T (p.Ser242=) | dbSNP gnomAD v4 |
| 2 | g.211702109G>C | CA431131026 | ERBB4 | c.1347C>G (p.Ser449=) c.1269C>G (p.Ser423=) c.1346C>G c.1170C>G (p.Ser390=) n.1399C>G c.1425C>G (p.Ser475=) c.726C>G (p.Ser242=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.211702109G= | CA1325614794 | ERBB4 | c.1347C= (p.Ser449=) c.1269C= (p.Ser423=) c.1346C= c.1170C= (p.Ser390=) n.1399C= c.1425C= (p.Ser475=) c.726C= (p.Ser242=) | |
| 2 | g.211702109G>T | CA431131027 | ERBB4 | c.1347C>A (p.Ser449=) c.1269C>A (p.Ser423=) c.1346C>A c.1170C>A (p.Ser390=) n.1399C>A c.1425C>A (p.Ser475=) c.726C>A (p.Ser242=) | |
| 2 | g.211702110G>A | CA350442482 | ERBB4 | c.1346C>T (p.Ser449Phe) c.1268C>T (p.Ser423Phe) c.1345C>T c.1169C>T (p.Ser390Phe) n.1398C>T c.1424C>T (p.Ser475Phe) c.725C>T (p.Ser242Phe) | gnomAD v4 |
| 2 | g.211702110G>C | CA350442483 | ERBB4 | c.1346C>G (p.Ser449Cys) c.1268C>G (p.Ser423Cys) c.1345C>G c.1169C>G (p.Ser390Cys) n.1398C>G c.1424C>G (p.Ser475Cys) c.725C>G (p.Ser242Cys) | |
| 2 | g.211702110G>T | CA350442481 | ERBB4 | c.1346C>A (p.Ser449Tyr) c.1268C>A (p.Ser423Tyr) c.1345C>A c.1169C>A (p.Ser390Tyr) n.1398C>A c.1424C>A (p.Ser475Tyr) c.725C>A (p.Ser242Tyr) | |
| 2 | g.211702111A>C | CA350442484 | ERBB4 | c.1345T>G (p.Ser449Ala) c.1267T>G (p.Ser423Ala) c.1344T>G c.1168T>G (p.Ser390Ala) n.1397T>G c.1423T>G (p.Ser475Ala) c.724T>G (p.Ser242Ala) | |
| 2 | g.211702111A>G | CA350442485 | ERBB4 | c.1345T>C (p.Ser449Pro) c.1267T>C (p.Ser423Pro) c.1344T>C c.1168T>C (p.Ser390Pro) n.1397T>C c.1423T>C (p.Ser475Pro) c.724T>C (p.Ser242Pro) | |
| 2 | g.211702111A>T | CA350442486 | ERBB4 | c.1345T>A (p.Ser449Thr) c.1267T>A (p.Ser423Thr) c.1344T>A c.1168T>A (p.Ser390Thr) n.1397T>A c.1423T>A (p.Ser475Thr) c.724T>A (p.Ser242Thr) | |
| 2 | g.211702112C>A | CA350442487 | ERBB4 | c.1344G>T (p.Gln448His) c.1266G>T (p.Gln422His) c.1343G>T c.1167G>T (p.Gln389His) n.1396G>T c.1422G>T (p.Gln474His) c.723G>T (p.Gln241His) | gnomAD v4 COSMIC COSMIC |
| 2 | g.211702112C>G | CA350442488 | ERBB4 | c.1344G>C (p.Gln448His) c.1266G>C (p.Gln422His) c.1343G>C c.1167G>C (p.Gln389His) n.1396G>C c.1422G>C (p.Gln474His) c.723G>C (p.Gln241His) | dbSNP |
| 2 | g.211702112C>T | CA431131042 | ERBB4 | c.1344G>A (p.Gln448=) c.1266G>A (p.Gln422=) c.1343G>A c.1167G>A (p.Gln389=) n.1396G>A c.1422G>A (p.Gln474=) c.723G>A (p.Gln241=) | dbSNP gnomAD v4 |
| 2 | g.211702113T>A | CA350442489 | ERBB4 | c.1343A>T (p.Gln448Leu) c.1265A>T (p.Gln422Leu) c.1342A>T c.1166A>T (p.Gln389Leu) n.1395A>T c.1421A>T (p.Gln474Leu) c.722A>T (p.Gln241Leu) | |
| 2 | g.211702113T>C | CA350442490 | ERBB4 | c.1343A>G (p.Gln448Arg) c.1265A>G (p.Gln422Arg) c.1342A>G c.1166A>G (p.Gln389Arg) n.1395A>G c.1421A>G (p.Gln474Arg) c.722A>G (p.Gln241Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.211702113T>G | CA350442491 | ERBB4 | c.1343A>C (p.Gln448Pro) c.1265A>C (p.Gln422Pro) c.1342A>C c.1166A>C (p.Gln389Pro) n.1395A>C c.1421A>C (p.Gln474Pro) c.722A>C (p.Gln241Pro) | dbSNP |
| 2 | g.211702113T= | CA1325614795 | ERBB4 | c.1343A= (p.Gln448=) c.1265A= (p.Gln422=) c.1342A= c.1166A= (p.Gln389=) n.1395A= c.1421A= (p.Gln474=) c.722A= (p.Gln241=) | |
| 2 | g.211702114G>A | CA350442492 | ERBB4 | c.1342C>T (p.Gln448Ter) c.1264C>T (p.Gln422Ter) c.1341C>T c.1165C>T (p.Gln389Ter) n.1394C>T c.1420C>T (p.Gln474Ter) c.721C>T (p.Gln241Ter) | dbSNP |
| 2 | g.211702114G>C | CA350442493 | ERBB4 | c.1342C>G (p.Gln448Glu) c.1264C>G (p.Gln422Glu) c.1341C>G c.1165C>G (p.Gln389Glu) n.1394C>G c.1420C>G (p.Gln474Glu) c.721C>G (p.Gln241Glu) | |
| 2 | g.211702114G>T | CA350442494 | ERBB4 | c.1342C>A (p.Gln448Lys) c.1264C>A (p.Gln422Lys) c.1341C>A c.1165C>A (p.Gln389Lys) n.1394C>A c.1420C>A (p.Gln474Lys) c.721C>A (p.Gln241Lys) | |
| 2 | g.211702115G>A | CA431131060 | ERBB4 | c.1341C>T (p.Phe447=) c.1263C>T (p.Phe421=) c.1340C>T c.1164C>T (p.Phe388=) n.1393C>T c.1419C>T (p.Phe473=) c.720C>T (p.Phe240=) | dbSNP |
| 2 | g.211702115G>C | CA350442495 | ERBB4 | c.1341C>G (p.Phe447Leu) c.1263C>G (p.Phe421Leu) c.1340C>G c.1164C>G (p.Phe388Leu) n.1393C>G c.1419C>G (p.Phe473Leu) c.720C>G (p.Phe240Leu) | |
| 2 | g.211702115G>T | CA350442496 | ERBB4 | c.1341C>A (p.Phe447Leu) c.1263C>A (p.Phe421Leu) c.1340C>A c.1164C>A (p.Phe388Leu) n.1393C>A c.1419C>A (p.Phe473Leu) c.720C>A (p.Phe240Leu) | gnomAD v4 |
| 2 | g.211702116A>C | CA350442499 | ERBB4 | c.1340T>G (p.Phe447Cys) c.1262T>G (p.Phe421Cys) c.1339T>G c.1163T>G (p.Phe388Cys) n.1392T>G c.1418T>G (p.Phe473Cys) c.719T>G (p.Phe240Cys) | |
| 2 | g.211702116A>G | CA350442498 | ERBB4 | c.1340T>C (p.Phe447Ser) c.1262T>C (p.Phe421Ser) c.1339T>C c.1163T>C (p.Phe388Ser) n.1392T>C c.1418T>C (p.Phe473Ser) c.719T>C (p.Phe240Ser) | |
| 2 | g.211702116A>T | CA350442497 | ERBB4 | c.1340T>A (p.Phe447Tyr) c.1262T>A (p.Phe421Tyr) c.1339T>A c.1163T>A (p.Phe388Tyr) n.1392T>A c.1418T>A (p.Phe473Tyr) c.719T>A (p.Phe240Tyr) |