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 |
|---|---|---|---|---|---|
| 8 | g.96144660T>A | CA371749591 | GDF6 | c.1271A>T (p.Lys424Ile) c.811A>T (p.Asn271Tyr) c.1020A>T (p.Gln340His) c.872A>T (p.Lys291Ile) | |
| 8 | g.96144660T>C | CA119557 | GDF6 | c.1271A>G (p.Lys424Arg) c.811A>G (p.Asn271Asp) c.1020A>G (p.Gln340=) c.872A>G (p.Lys291Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144660T>G | CA371749592 | GDF6 | c.1271A>C (p.Lys424Thr) c.811A>C (p.Asn271His) c.1020A>C (p.Gln340His) c.872A>C (p.Lys291Thr) | |
| 8 | g.96144660T= | CA1804260694 | GDF6 | c.1271A= (p.Lys424=) c.811A= (p.Asn271=) c.1020A= (p.Gln340=) c.872A= (p.Lys291=) | |
| 8 | g.96144661T>A | CA371749594 | GDF6 | c.1270A>T (p.Lys424Ter) c.810A>T (p.Pro270=) c.1019A>T (p.Gln340Leu) c.871A>T (p.Lys291Ter) | gnomAD v4 |
| 8 | g.96144661T>C | CA371749595 | GDF6 | c.1270A>G (p.Lys424Glu) c.810A>G (p.Pro270=) c.1019A>G (p.Gln340Arg) c.871A>G (p.Lys291Glu) | |
| 8 | g.96144661T>G | CA371749593 | GDF6 | c.1270A>C (p.Lys424Gln) c.810A>C (p.Pro270=) c.1019A>C (p.Gln340Pro) c.871A>C (p.Lys291Gln) | |
| 8 | g.96144662G>A | CA371749596 | GDF6 | c.1269C>T (p.Thr423=) c.809C>T (p.Pro270Leu) c.1018C>T (p.Gln340Ter) c.870C>T (p.Thr290=) | |
| 8 | g.96144662G>C | CA371749597 | GDF6 | c.1269C>G (p.Thr423=) c.809C>G (p.Pro270Arg) c.1018C>G (p.Gln340Glu) c.870C>G (p.Thr290=) | |
| 8 | g.96144662G>T | CA371749598 | GDF6 | c.1269C>A (p.Thr423=) c.809C>A (p.Pro270Gln) c.1018C>A (p.Gln340Lys) c.870C>A (p.Thr290=) | gnomAD v4 |
| 8 | g.96144663G>A | CA371749599 | GDF6 | c.1268C>T (p.Thr423Ile) c.808C>T (p.Pro270Ser) c.1017C>T (p.His339=) c.869C>T (p.Thr290Ile) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96144663G>C | CA4815347 | GDF6 | c.1268C>G (p.Thr423Ser) c.808C>G (p.Pro270Ala) c.1017C>G (p.His339Gln) c.869C>G (p.Thr290Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144663G= | CA1804260698 | GDF6 | c.1268C= (p.Thr423=) c.808C= (p.Pro270=) c.1017C= (p.His339=) c.869C= (p.Thr290=) | |
| 8 | g.96144663G>T | CA371749600 | GDF6 | c.1268C>A (p.Thr423Asn) c.808C>A (p.Pro270Thr) c.1017C>A (p.His339Gln) c.869C>A (p.Thr290Asn) | COSMIC |
| 8 | g.96144664T>A | CA371749603 | GDF6 | c.1267A>T (p.Thr423Ser) c.807A>T (p.Pro269=) c.1016A>T (p.His339Leu) c.868A>T (p.Thr290Ser) | |
| 8 | g.96144664T>C | CA371749602 | GDF6 | c.1267A>G (p.Thr423Ala) c.807A>G (p.Pro269=) c.1016A>G (p.His339Arg) c.868A>G (p.Thr290Ala) | |
| 8 | g.96144664T>G | CA371749601 | GDF6 | c.1267A>C (p.Thr423Pro) c.807A>C (p.Pro269=) c.1016A>C (p.His339Pro) c.868A>C (p.Thr290Pro) | |
| 8 | g.96144665G>A | CA371749604 | GDF6 | c.1266C>T (p.Pro422=) c.806C>T (p.Pro269Leu) c.1015C>T (p.His339Tyr) c.867C>T (p.Pro289=) | |
| 8 | g.96144665G>C | CA371749605 | GDF6 | c.1266C>G (p.Pro422=) c.806C>G (p.Pro269Arg) c.1015C>G (p.His339Asp) c.867C>G (p.Pro289=) | |
| 8 | g.96144665G>T | CA371749606 | GDF6 | c.1266C>A (p.Pro422=) c.806C>A (p.Pro269Gln) c.1015C>A (p.His339Asn) c.867C>A (p.Pro289=) | |
| 8 | g.96144666G>A | CA371749607 | GDF6 | c.1265C>T (p.Pro422Leu) c.805C>T (p.Pro269Ser) c.1014C>T (p.Ala338=) c.866C>T (p.Pro289Leu) | |
| 8 | g.96144666G>C | CA371749608 | GDF6 | c.1265C>G (p.Pro422Arg) c.805C>G (p.Pro269Ala) c.1014C>G (p.Ala338=) c.866C>G (p.Pro289Arg) | |
| 8 | g.96144666G>T | CA371749609 | GDF6 | c.1265C>A (p.Pro422His) c.805C>A (p.Pro269Thr) c.1014C>A (p.Ala338=) c.866C>A (p.Pro289His) | COSMIC |
| 8 | g.96144667G>A | CA371749610 | GDF6 | c.1264C>T (p.Pro422Ser) c.804C>T (p.Cys268=) c.1013C>T (p.Ala338Val) c.865C>T (p.Pro289Ser) | COSMIC |
| 8 | g.96144667G>C | CA371749612 | GDF6 | c.1264C>G (p.Pro422Ala) c.804C>G (p.Cys268Trp) c.1013C>G (p.Ala338Gly) c.865C>G (p.Pro289Ala) | |
| 8 | g.96144667G>T | CA371749611 | GDF6 | c.1264C>A (p.Pro422Thr) c.804C>A (p.Cys268Ter) c.1013C>A (p.Ala338Asp) c.865C>A (p.Pro289Thr) | |
| 8 | g.96144668C>A | CA371749613 | GDF6 | c.1263G>T (p.Val421=) c.803G>T (p.Cys268Phe) c.1012G>T (p.Ala338Ser) c.864G>T (p.Val288=) | |
| 8 | g.96144668C>G | CA371749614 | GDF6 | c.1263G>C (p.Val421=) c.803G>C (p.Cys268Ser) c.1012G>C (p.Ala338Pro) c.864G>C (p.Val288=) | |
| 8 | g.96144668C>T | CA371749615 | GDF6 | c.1263G>A (p.Val421=) c.803G>A (p.Cys268Tyr) c.1012G>A (p.Ala338Thr) c.864G>A (p.Val288=) | gnomAD v4 |
| 8 | g.96144669A>C | CA371749616 | GDF6 | c.1262T>G (p.Val421Gly) c.802T>G (p.Cys268Gly) c.1011T>G (p.Arg337=) c.863T>G (p.Val288Gly) | |
| 8 | g.96144669A>G | CA371749617 | GDF6 | c.1262T>C (p.Val421Ala) c.802T>C (p.Cys268Arg) c.1011T>C (p.Arg337=) c.863T>C (p.Val288Ala) | |
| 8 | g.96144669A>T | CA371749618 | GDF6 | c.1262T>A (p.Val421Glu) c.802T>A (p.Cys268Ser) c.1011T>A (p.Arg337=) c.863T>A (p.Val288Glu) | |
| 8 | g.96144670C>A | CA371749619 | GDF6 | c.1261G>T (p.Val421Leu) c.801G>T (p.Ala267=) c.1010G>T (p.Arg337Leu) c.862G>T (p.Val288Leu) | |
| 8 | g.96144670C= | CA1804260705 | GDF6 | c.1261G= (p.Val421=) c.801G= (p.Ala267=) c.1010G= (p.Arg337=) c.862G= (p.Val288=) | |
| 8 | g.96144670C>G | CA371749620 | GDF6 | c.1261G>C (p.Val421Leu) c.801G>C (p.Ala267=) c.1010G>C (p.Arg337Pro) c.862G>C (p.Val288Leu) | |
| 8 | g.96144670C>T | CA371749621 | GDF6 | c.1261G>A (p.Val421Met) c.801G>A (p.Ala267=) c.1010G>A (p.Arg337His) c.862G>A (p.Val288Met) | dbSNP gnomAD v2 COSMIC |
| 8 | g.96144671G>A | CA4815348 | GDF6 | c.1260C>T (p.Cys420=) c.800C>T (p.Ala267Val) c.1009C>T (p.Arg337Cys) c.861C>T (p.Cys287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144671G>C | CA371749622 | GDF6 | c.1260C>G (p.Cys420Trp) c.800C>G (p.Ala267Gly) c.1009C>G (p.Arg337Gly) c.861C>G (p.Cys287Trp) | |
| 8 | g.96144671G= | CA1804260712 | GDF6 | c.1260C= (p.Cys420=) c.800C= (p.Ala267=) c.1009C= (p.Arg337=) c.861C= (p.Cys287=) | |
| 8 | g.96144671G>T | CA371749623 | GDF6 | c.1260C>A (p.Cys420Ter) c.800C>A (p.Ala267Glu) c.1009C>A (p.Arg337Ser) c.861C>A (p.Cys287Ter) | |
| 8 | g.96144672C>A | CA371749624 | GDF6 | c.1259G>T (p.Cys420Phe) c.799G>T (p.Ala267Ser) c.1008G>T (p.Leu336=) c.860G>T (p.Cys287Phe) | |
| 8 | g.96144672C>G | CA371749626 | GDF6 | c.1259G>C (p.Cys420Ser) c.799G>C (p.Ala267Pro) c.1008G>C (p.Leu336=) c.860G>C (p.Cys287Ser) | |
| 8 | g.96144672C>T | CA371749625 | GDF6 | c.1259G>A (p.Cys420Tyr) c.799G>A (p.Ala267Thr) c.1008G>A (p.Leu336=) c.860G>A (p.Cys287Tyr) | |
| 8 | g.96144673A>C | CA371749627 | GDF6 | c.1258T>G (p.Cys420Gly) c.798T>G (p.Ala266=) c.1007T>G (p.Leu336Arg) c.859T>G (p.Cys287Gly) | |
| 8 | g.96144673A>G | CA371749628 | GDF6 | c.1258T>C (p.Cys420Arg) c.798T>C (p.Ala266=) c.1007T>C (p.Leu336Pro) c.859T>C (p.Cys287Arg) | |
| 8 | g.96144673A>T | CA371749629 | GDF6 | c.1258T>A (p.Cys420Ser) c.798T>A (p.Ala266=) c.1007T>A (p.Leu336Gln) c.859T>A (p.Cys287Ser) | |
| 8 | g.96144674G>A | CA371749630 | GDF6 | c.1257C>T (p.Cys419=) c.797C>T (p.Ala266Val) c.1006C>T (p.Leu336=) c.858C>T (p.Cys286=) | |
| 8 | g.96144674G>C | CA371749631 | GDF6 | c.1257C>G (p.Cys419Trp) c.797C>G (p.Ala266Gly) c.1006C>G (p.Leu336Val) c.858C>G (p.Cys286Trp) | |
| 8 | g.96144674G>T | CA371749632 | GDF6 | c.1257C>A (p.Cys419Ter) c.797C>A (p.Ala266Asp) c.1006C>A (p.Leu336Met) c.858C>A (p.Cys286Ter) | |
| 8 | g.96144675C>A | CA371749633 | GDF6 | c.1256G>T (p.Cys419Phe) c.796G>T (p.Ala266Ser) c.1005G>T (p.Leu335=) c.857G>T (p.Cys286Phe) |