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 |
|---|---|---|---|---|---|
| 19 | g.55151893G>A | CA021951 | TNNI3 | c.574C>T (p.Arg192Cys) c.607C>T (p.Arg203Cys) n.573C>T c.499C>T (p.Arg167Cys) n.402C>T | ClinVar dbSNP COSMIC |
| 19 | g.55151893G>C | CA407439617 | TNNI3 | c.574C>G (p.Arg192Gly) c.607C>G (p.Arg203Gly) n.573C>G c.499C>G (p.Arg167Gly) n.402C>G | |
| 19 | g.55151893G= | CA2343272629 | TNNI3 | c.574C= (p.Arg192=) c.607C= (p.Arg203=) n.573C= c.499C= (p.Arg167=) n.402C= | |
| 19 | g.55151893G>T | CA407439618 | TNNI3 | c.574C>A (p.Arg192Ser) c.607C>A (p.Arg203Ser) n.573C>A c.499C>A (p.Arg167Ser) n.402C>A | |
| 19 | g.55151894C>A | CA407439620 | TNNI3 | c.573G>T (p.Trp191Cys) c.606G>T (p.Trp202Cys) n.572G>T c.498G>T (p.Trp166Cys) n.401G>T | dbSNP |
| 19 | g.55151894C>G | CA407439622 | TNNI3 | c.573G>C (p.Trp191Cys) c.606G>C (p.Trp202Cys) n.572G>C c.498G>C (p.Trp166Cys) n.401G>C | |
| 19 | g.55151894C>T | CA407439623 | TNNI3 | c.573G>A (p.Trp191Ter) c.606G>A (p.Trp202Ter) n.572G>A c.498G>A (p.Trp166Ter) n.401G>A | |
| 19 | g.55151895C>A | CA407439626 | TNNI3 | c.572G>T (p.Trp191Leu) c.605G>T (p.Trp202Leu) n.571G>T c.497G>T (p.Trp166Leu) n.400G>T | |
| 19 | g.55151895C= | CA2343272634 | TNNI3 | c.572G= (p.Trp191=) c.605G= (p.Trp202=) n.571G= c.497G= (p.Trp166=) n.400G= | |
| 19 | g.55151895C>G | CA407439627 | TNNI3 | c.572G>C (p.Trp191Ser) c.605G>C (p.Trp202Ser) n.571G>C c.497G>C (p.Trp166Ser) n.400G>C | |
| 19 | g.55151895C>T | CA310144922 | TNNI3 | c.572G>A (p.Trp191Ter) c.605G>A (p.Trp202Ter) n.571G>A c.497G>A (p.Trp166Ter) n.400G>A | dbSNP |
| 19 | g.55151896A>C | CA407439630 | TNNI3 | c.571T>G (p.Trp191Gly) c.604T>G (p.Trp202Gly) n.570T>G c.496T>G (p.Trp166Gly) n.399T>G | |
| 19 | g.55151896A>G | CA407439631 | TNNI3 | c.571T>C (p.Trp191Arg) c.604T>C (p.Trp202Arg) n.570T>C c.496T>C (p.Trp166Arg) n.399T>C | |
| 19 | g.55151896A>T | CA407439633 | TNNI3 | c.571T>A (p.Trp191Arg) c.604T>A (p.Trp202Arg) n.570T>A c.496T>A (p.Trp166Arg) n.399T>A | |
| 19 | g.55151897G>A | CA508989352 | TNNI3 | c.570C>T (p.Asp190=) c.603C>T (p.Asp201=) n.569C>T c.495C>T (p.Asp165=) n.398C>T | ClinVar dbSNP |
| 19 | g.55151897G>C | CA407439634 | TNNI3 | c.570C>G (p.Asp190Glu) c.603C>G (p.Asp201Glu) n.569C>G c.495C>G (p.Asp165Glu) n.398C>G | ClinVar dbSNP |
| 19 | g.55151897G= | CA2343272637 | TNNI3 | c.570C= (p.Asp190=) c.603C= (p.Asp201=) n.569C= c.495C= (p.Asp165=) n.398C= | |
| 19 | g.55151897G>T | CA407439636 | TNNI3 | c.570C>A (p.Asp190Glu) c.603C>A (p.Asp201Glu) n.569C>A c.495C>A (p.Asp165Glu) n.398C>A | |
| 19 | g.55151897_55151904delinsGTCTCCCA | CA2343272640 | TNNI3 | c.563_570delinsTGGGAGAC (p.Val188=) c.596_603delinsTGGGAGAC (p.Val199=) n.562_569delinsTGGGAGAC c.488_495delinsTGGGAGAC (p.Val163=) n.391_398delinsTGGGAGAC | |
| 19 | g.55151898T>A | CA407439639 | TNNI3 | c.569A>T (p.Asp190Val) c.602A>T (p.Asp201Val) n.568A>T c.494A>T (p.Asp165Val) n.397A>T | |
| 19 | g.55151898T>C | CA021945 | TNNI3 | c.569A>G (p.Asp190Gly) c.602A>G (p.Asp201Gly) n.568A>G c.494A>G (p.Asp165Gly) n.397A>G | ClinVar dbSNP |
| 19 | g.55151898T>G | CA407439642 | TNNI3 | c.569A>C (p.Asp190Ala) c.602A>C (p.Asp201Ala) n.568A>C c.494A>C (p.Asp165Ala) n.397A>C | |
| 19 | g.55151898T= | CA2343272645 | TNNI3 | c.569A= (p.Asp190=) c.602A= (p.Asp201=) n.568A= c.494A= (p.Asp165=) n.397A= | |
| 19 | g.55151898_55151904del | CA2343272643 | TNNI3 | c.563_569del (p.Val188AlafsTer9) c.596_602del (p.Val199AlafsTer9) n.562_568del c.488_494del (p.Val163AlafsTer9) n.391_397del | ClinVar dbSNP |
| 19 | g.55151899C>A | CA021939 | TNNI3 | c.568G>T (p.Asp190Tyr) c.601G>T (p.Asp201Tyr) n.567G>T c.493G>T (p.Asp165Tyr) n.396G>T | ClinVar dbSNP |
| 19 | g.55151899C= | CA2343272647 | TNNI3 | c.568G= (p.Asp190=) c.601G= (p.Asp201=) n.567G= c.493G= (p.Asp165=) n.396G= | |
| 19 | g.55151899C>G | CA407439646 | TNNI3 | c.568G>C (p.Asp190His) c.601G>C (p.Asp201His) n.567G>C c.493G>C (p.Asp165His) n.396G>C | |
| 19 | g.55151899C>T | CA407439648 | TNNI3 | c.568G>A (p.Asp190Asn) c.601G>A (p.Asp201Asn) n.567G>A c.493G>A (p.Asp165Asn) n.396G>A | |
| 19 | g.55151900T>A | CA508989353 | TNNI3 | c.567A>T (p.Gly189=) c.600A>T (p.Gly200=) n.566A>T c.492A>T (p.Gly164=) n.395A>T | |
| 19 | g.55151900T>C | CA310144932 | TNNI3 | c.567A>G (p.Gly189=) c.600A>G (p.Gly200=) n.566A>G c.492A>G (p.Gly164=) n.395A>G | ClinVar dbSNP |
| 19 | g.55151900T>G | CA508989354 | TNNI3 | c.567A>C (p.Gly189=) c.600A>C (p.Gly200=) n.566A>C c.492A>C (p.Gly164=) n.395A>C | |
| 19 | g.55151900T= | CA2343272650 | TNNI3 | c.567A= (p.Gly189=) c.600A= (p.Gly200=) n.566A= c.492A= (p.Gly164=) n.395A= | |
| 19 | g.55151901C>A | CA407439651 | TNNI3 | c.566G>T (p.Gly189Val) c.599G>T (p.Gly200Val) n.565G>T c.491G>T (p.Gly164Val) n.394G>T | |
| 19 | g.55151901C= | CA2343272651 | TNNI3 | c.566G= (p.Gly189=) c.599G= (p.Gly200=) n.565G= c.491G= (p.Gly164=) n.394G= | |
| 19 | g.55151901C>G | CA407439652 | TNNI3 | c.566G>C (p.Gly189Ala) c.599G>C (p.Gly200Ala) n.565G>C c.491G>C (p.Gly164Ala) n.394G>C | ClinVar |
| 19 | g.55151901C>T | CA021932 | TNNI3 | c.566G>A (p.Gly189Glu) c.599G>A (p.Gly200Glu) n.565G>A c.491G>A (p.Gly164Glu) n.394G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151902C>A | CA407439653 | TNNI3 | c.565G>T (p.Gly189Ter) c.598G>T (p.Gly200Ter) n.564G>T c.490G>T (p.Gly164Ter) n.393G>T | |
| 19 | g.55151902C>G | CA407439654 | TNNI3 | c.565G>C (p.Gly189Arg) c.598G>C (p.Gly200Arg) n.564G>C c.490G>C (p.Gly164Arg) n.393G>C | |
| 19 | g.55151902C>T | CA407439656 | TNNI3 | c.565G>A (p.Gly189Arg) c.598G>A (p.Gly200Arg) n.564G>A c.490G>A (p.Gly164Arg) n.393G>A | gnomAD v4 |
| 19 | g.55151903C>A | CA508989355 | TNNI3 | c.564G>T (p.Val188=) c.597G>T (p.Val199=) n.563G>T c.489G>T (p.Val163=) n.392G>T | COSMIC |
| 19 | g.55151903C= | CA2343272652 | TNNI3 | c.564G= (p.Val188=) c.597G= (p.Val199=) n.563G= c.489G= (p.Val163=) n.392G= | |
| 19 | g.55151903C>G | CA508989356 | TNNI3 | c.564G>C (p.Val188=) c.597G>C (p.Val199=) n.563G>C c.489G>C (p.Val163=) n.392G>C | |
| 19 | g.55151903C>T | CA051861 | TNNI3 | c.564G>A (p.Val188=) c.597G>A (p.Val199=) n.563G>A c.489G>A (p.Val163=) n.392G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.55151904A= | CA2343272653 | TNNI3 | c.563T= (p.Val188=) c.596T= (p.Val199=) n.562T= c.488T= (p.Val163=) n.391T= | |
| 19 | g.55151904A>C | CA407439660 | TNNI3 | c.563T>G (p.Val188Gly) c.596T>G (p.Val199Gly) n.562T>G c.488T>G (p.Val163Gly) n.391T>G | dbSNP |
| 19 | g.55151904A>G | CA407439657 | TNNI3 | c.563T>C (p.Val188Ala) c.596T>C (p.Val199Ala) n.562T>C c.488T>C (p.Val163Ala) n.391T>C | |
| 19 | g.55151904A>T | CA407439658 | TNNI3 | c.563T>A (p.Val188Glu) c.596T>A (p.Val199Glu) n.562T>A c.488T>A (p.Val163Glu) n.391T>A | |
| 19 | g.55151905C>A | CA021928 | TNNI3 | c.562G>T (p.Val188Leu) c.595G>T (p.Val199Leu) n.561G>T c.487G>T (p.Val163Leu) n.390G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151905C= | CA2343272654 | TNNI3 | c.562G= (p.Val188=) c.595G= (p.Val199=) n.561G= c.487G= (p.Val163=) n.390G= | |
| 19 | g.55151905C>G | CA407439663 | TNNI3 | c.562G>C (p.Val188Leu) c.595G>C (p.Val199Leu) n.561G>C c.487G>C (p.Val163Leu) n.390G>C | gnomAD v4 |