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 |
|---|---|---|---|---|---|
| 7 | g.50529239A>C | CA367526669 | DDC,FIGNL1 | c.539T>G (p.Met180Arg) c.305T>G (p.Met102Arg) c.213-959T>G c.435+8621T>G (n.435+8621T>G) c.425T>G (p.Met142Arg) n.338T>G c.-11+13279T>G (n.-11+13279T>G) c.188T>G (p.Met63Arg) c.482T>G (p.Met161Arg) | gnomAD v4 |
| 7 | g.50529239A>G | CA367526670 | DDC,FIGNL1 | c.539T>C (p.Met180Thr) c.305T>C (p.Met102Thr) c.213-959T>C c.435+8621T>C (n.435+8621T>C) c.425T>C (p.Met142Thr) n.338T>C c.-11+13279T>C (n.-11+13279T>C) c.188T>C (p.Met63Thr) c.482T>C (p.Met161Thr) | |
| 7 | g.50529239A>T | CA367526668 | DDC,FIGNL1 | c.539T>A (p.Met180Lys) c.305T>A (p.Met102Lys) c.213-959T>A c.435+8621T>A (n.435+8621T>A) c.425T>A (p.Met142Lys) n.338T>A c.-11+13279T>A (n.-11+13279T>A) c.188T>A (p.Met63Lys) c.482T>A (p.Met161Lys) | |
| 7 | g.50529240T>A | CA367526672 | DDC,FIGNL1 | c.538A>T (p.Met180Leu) c.304A>T (p.Met102Leu) c.213-960A>T c.435+8620A>T (n.435+8620A>T) c.424A>T (p.Met142Leu) n.337A>T c.-11+13278A>T (n.-11+13278A>T) c.187A>T (p.Met63Leu) c.481A>T (p.Met161Leu) | |
| 7 | g.50529240T>C | CA367526671 | DDC,FIGNL1 | c.538A>G (p.Met180Val) c.304A>G (p.Met102Val) c.213-960A>G c.435+8620A>G (n.435+8620A>G) c.424A>G (p.Met142Val) n.337A>G c.-11+13278A>G (n.-11+13278A>G) c.187A>G (p.Met63Val) c.481A>G (p.Met161Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50529240T>G | CA367526673 | DDC,FIGNL1 | c.538A>C (p.Met180Leu) c.304A>C (p.Met102Leu) c.213-960A>C c.435+8620A>C (n.435+8620A>C) c.424A>C (p.Met142Leu) n.337A>C c.-11+13278A>C (n.-11+13278A>C) c.187A>C (p.Met63Leu) c.481A>C (p.Met161Leu) | gnomAD v4 COSMIC COSMIC |
| 7 | g.50529241G>A | CA454937504 | DDC,FIGNL1 | c.537C>T (p.Ile179=) c.303C>T (p.Ile101=) c.213-961C>T c.435+8619C>T (n.435+8619C>T) c.423C>T (p.Ile141=) n.336C>T c.-11+13277C>T (n.-11+13277C>T) c.186C>T (p.Ile62=) c.480C>T (p.Ile160=) | COSMIC COSMIC |
| 7 | g.50529241G>C | CA367526674 | DDC,FIGNL1 | c.537C>G (p.Ile179Met) c.303C>G (p.Ile101Met) c.213-961C>G c.435+8619C>G (n.435+8619C>G) c.423C>G (p.Ile141Met) n.336C>G c.-11+13277C>G (n.-11+13277C>G) c.186C>G (p.Ile62Met) c.480C>G (p.Ile160Met) | gnomAD v4 |
| 7 | g.50529241G>T | CA454937505 | DDC,FIGNL1 | c.537C>A (p.Ile179=) c.303C>A (p.Ile101=) c.213-961C>A c.435+8619C>A (n.435+8619C>A) c.423C>A (p.Ile141=) n.336C>A c.-11+13277C>A (n.-11+13277C>A) c.186C>A (p.Ile62=) c.480C>A (p.Ile160=) | |
| 7 | g.50529242A>C | CA367526677 | DDC,FIGNL1 | c.536T>G (p.Ile179Ser) c.302T>G (p.Ile101Ser) c.213-962T>G c.435+8618T>G (n.435+8618T>G) c.422T>G (p.Ile141Ser) n.335T>G c.-11+13276T>G (n.-11+13276T>G) c.185T>G (p.Ile62Ser) c.479T>G (p.Ile160Ser) | |
| 7 | g.50529242A>G | CA367526675 | DDC,FIGNL1 | c.536T>C (p.Ile179Thr) c.302T>C (p.Ile101Thr) c.213-962T>C c.435+8618T>C (n.435+8618T>C) c.422T>C (p.Ile141Thr) n.335T>C c.-11+13276T>C (n.-11+13276T>C) c.185T>C (p.Ile62Thr) c.479T>C (p.Ile160Thr) | |
| 7 | g.50529242A>T | CA367526676 | DDC,FIGNL1 | c.536T>A (p.Ile179Asn) c.302T>A (p.Ile101Asn) c.213-962T>A c.435+8618T>A (n.435+8618T>A) c.422T>A (p.Ile141Asn) n.335T>A c.-11+13276T>A (n.-11+13276T>A) c.185T>A (p.Ile62Asn) c.479T>A (p.Ile160Asn) | |
| 7 | g.50529243T>A | CA367526678 | DDC,FIGNL1 | c.535A>T (p.Ile179Phe) c.301A>T (p.Ile101Phe) c.213-963A>T c.435+8617A>T (n.435+8617A>T) c.421A>T (p.Ile141Phe) n.334A>T c.-11+13275A>T (n.-11+13275A>T) c.184A>T (p.Ile62Phe) c.478A>T (p.Ile160Phe) | |
| 7 | g.50529243T>C | CA367526679 | DDC,FIGNL1 | c.535A>G (p.Ile179Val) c.301A>G (p.Ile101Val) c.213-963A>G c.435+8617A>G (n.435+8617A>G) c.421A>G (p.Ile141Val) n.334A>G c.-11+13275A>G (n.-11+13275A>G) c.184A>G (p.Ile62Val) c.478A>G (p.Ile160Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50529243T>G | CA10629251 | DDC,FIGNL1 | c.535A>C (p.Ile179Leu) c.301A>C (p.Ile101Leu) c.213-963A>C c.435+8617A>C (n.435+8617A>C) c.421A>C (p.Ile141Leu) n.334A>C c.-11+13275A>C (n.-11+13275A>C) c.184A>C (p.Ile62Leu) c.478A>C (p.Ile160Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50529243T= | CA1706649148 | DDC,FIGNL1 | c.535A= (p.Ile179=) c.301A= (p.Ile101=) c.213-963A= c.435+8617A= (n.435+8617A=) c.421A= (p.Ile141=) n.334A= c.-11+13275A= (n.-11+13275A=) c.184A= (p.Ile62=) c.478A= (p.Ile160=) | |
| 7 | g.50529244A>C | CA454937506 | DDC,FIGNL1 | c.534T>G (p.Ala178=) c.300T>G (p.Ala100=) c.213-964T>G c.435+8616T>G (n.435+8616T>G) c.420T>G (p.Ala140=) n.333T>G c.-11+13274T>G (n.-11+13274T>G) c.183T>G (p.Ala61=) c.477T>G (p.Ala159=) | |
| 7 | g.50529244A>G | CA454937507 | DDC,FIGNL1 | c.534T>C (p.Ala178=) c.300T>C (p.Ala100=) c.213-964T>C c.435+8616T>C (n.435+8616T>C) c.420T>C (p.Ala140=) n.333T>C c.-11+13274T>C (n.-11+13274T>C) c.183T>C (p.Ala61=) c.477T>C (p.Ala159=) | |
| 7 | g.50529244A>T | CA454937508 | DDC,FIGNL1 | c.534T>A (p.Ala178=) c.300T>A (p.Ala100=) c.213-964T>A c.435+8616T>A (n.435+8616T>A) c.420T>A (p.Ala140=) n.333T>A c.-11+13274T>A (n.-11+13274T>A) c.183T>A (p.Ala61=) c.477T>A (p.Ala159=) | |
| 7 | g.50529245G>A | CA158232912 | DDC,FIGNL1 | c.533C>T (p.Ala178Val) c.299C>T (p.Ala100Val) c.213-965C>T c.435+8615C>T (n.435+8615C>T) c.419C>T (p.Ala140Val) n.332C>T c.-11+13273C>T (n.-11+13273C>T) c.182C>T (p.Ala61Val) c.476C>T (p.Ala159Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50529245G>C | CA367526680 | DDC,FIGNL1 | c.533C>G (p.Ala178Gly) c.299C>G (p.Ala100Gly) c.213-965C>G c.435+8615C>G (n.435+8615C>G) c.419C>G (p.Ala140Gly) n.332C>G c.-11+13273C>G (n.-11+13273C>G) c.182C>G (p.Ala61Gly) c.476C>G (p.Ala159Gly) | |
| 7 | g.50529245G= | CA1706649155 | DDC,FIGNL1 | c.533C= (p.Ala178=) c.299C= (p.Ala100=) c.213-965C= c.435+8615C= (n.435+8615C=) c.419C= (p.Ala140=) n.332C= c.-11+13273C= (n.-11+13273C=) c.182C= (p.Ala61=) c.476C= (p.Ala159=) | |
| 7 | g.50529245G>T | CA4262342 | DDC,FIGNL1 | c.533C>A (p.Ala178Asp) c.299C>A (p.Ala100Asp) c.213-965C>A c.435+8615C>A (n.435+8615C>A) c.419C>A (p.Ala140Asp) n.332C>A c.-11+13273C>A (n.-11+13273C>A) c.182C>A (p.Ala61Asp) c.476C>A (p.Ala159Asp) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.50529246C>A | CA367526681 | DDC,FIGNL1 | c.532G>T (p.Ala178Ser) c.298G>T (p.Ala100Ser) c.213-966G>T c.435+8614G>T (n.435+8614G>T) c.418G>T (p.Ala140Ser) n.331G>T c.-11+13272G>T (n.-11+13272G>T) c.181G>T (p.Ala61Ser) c.475G>T (p.Ala159Ser) | dbSNP |
| 7 | g.50529246C= | CA1706649157 | DDC,FIGNL1 | c.532G= (p.Ala178=) c.298G= (p.Ala100=) c.213-966G= c.435+8614G= (n.435+8614G=) c.418G= (p.Ala140=) n.331G= c.-11+13272G= (n.-11+13272G=) c.181G= (p.Ala61=) c.475G= (p.Ala159=) | |
| 7 | g.50529246C>G | CA367526682 | DDC,FIGNL1 | c.532G>C (p.Ala178Pro) c.298G>C (p.Ala100Pro) c.213-966G>C c.435+8614G>C (n.435+8614G>C) c.418G>C (p.Ala140Pro) n.331G>C c.-11+13272G>C (n.-11+13272G>C) c.181G>C (p.Ala61Pro) c.475G>C (p.Ala159Pro) | |
| 7 | g.50529246C>T | CA367526683 | DDC,FIGNL1 | c.532G>A (p.Ala178Thr) c.298G>A (p.Ala100Thr) c.213-966G>A c.435+8614G>A (n.435+8614G>A) c.418G>A (p.Ala140Thr) n.331G>A c.-11+13272G>A (n.-11+13272G>A) c.181G>A (p.Ala61Thr) c.475G>A (p.Ala159Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50529247G>A | CA4262343 | DDC,FIGNL1 | c.531C>T (p.Ala177=) c.297C>T (p.Ala99=) c.213-967C>T c.435+8613C>T (n.435+8613C>T) c.417C>T (p.Ala139=) n.330C>T c.-11+13271C>T (n.-11+13271C>T) c.180C>T (p.Ala60=) c.474C>T (p.Ala158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50529247G>C | CA454937509 | DDC,FIGNL1 | c.531C>G (p.Ala177=) c.297C>G (p.Ala99=) c.213-967C>G c.435+8613C>G (n.435+8613C>G) c.417C>G (p.Ala139=) n.330C>G c.-11+13271C>G (n.-11+13271C>G) c.180C>G (p.Ala60=) c.474C>G (p.Ala158=) | ClinVar |
| 7 | g.50529247G= | CA1706649160 | DDC,FIGNL1 | c.531C= (p.Ala177=) c.297C= (p.Ala99=) c.213-967C= c.435+8613C= (n.435+8613C=) c.417C= (p.Ala139=) n.330C= c.-11+13271C= (n.-11+13271C=) c.180C= (p.Ala60=) c.474C= (p.Ala158=) | |
| 7 | g.50529247G>T | CA454937510 | DDC,FIGNL1 | c.531C>A (p.Ala177=) c.297C>A (p.Ala99=) c.213-967C>A c.435+8613C>A (n.435+8613C>A) c.417C>A (p.Ala139=) n.330C>A c.-11+13271C>A (n.-11+13271C>A) c.180C>A (p.Ala60=) c.474C>A (p.Ala158=) | COSMIC COSMIC |
| 7 | g.50529248G>A | CA367526686 | DDC,FIGNL1 | c.530C>T (p.Ala177Val) c.296C>T (p.Ala99Val) c.213-968C>T c.435+8612C>T (n.435+8612C>T) c.416C>T (p.Ala139Val) n.329C>T c.-11+13270C>T (n.-11+13270C>T) c.179C>T (p.Ala60Val) c.473C>T (p.Ala158Val) | gnomAD v4 |
| 7 | g.50529248G>C | CA367526684 | DDC,FIGNL1 | c.530C>G (p.Ala177Gly) c.296C>G (p.Ala99Gly) c.213-968C>G c.435+8612C>G (n.435+8612C>G) c.416C>G (p.Ala139Gly) n.329C>G c.-11+13270C>G (n.-11+13270C>G) c.179C>G (p.Ala60Gly) c.473C>G (p.Ala158Gly) | dbSNP |
| 7 | g.50529248G>T | CA367526685 | DDC,FIGNL1 | c.530C>A (p.Ala177Asp) c.296C>A (p.Ala99Asp) c.213-968C>A c.435+8612C>A (n.435+8612C>A) c.416C>A (p.Ala139Asp) n.329C>A c.-11+13270C>A (n.-11+13270C>A) c.179C>A (p.Ala60Asp) c.473C>A (p.Ala158Asp) | |
| 7 | g.50529249C>A | CA367526687 | DDC,FIGNL1 | c.529G>T (p.Ala177Ser) c.295G>T (p.Ala99Ser) c.213-969G>T c.435+8611G>T (n.435+8611G>T) c.415G>T (p.Ala139Ser) n.328G>T c.-11+13269G>T (n.-11+13269G>T) c.178G>T (p.Ala60Ser) c.472G>T (p.Ala158Ser) | |
| 7 | g.50529249C= | CA1706649163 | DDC,FIGNL1 | c.529G= (p.Ala177=) c.295G= (p.Ala99=) c.213-969G= c.435+8611G= (n.435+8611G=) c.415G= (p.Ala139=) n.328G= c.-11+13269G= (n.-11+13269G=) c.178G= (p.Ala60=) c.472G= (p.Ala158=) | |
| 7 | g.50529249C>G | CA367526688 | DDC,FIGNL1 | c.529G>C (p.Ala177Pro) c.295G>C (p.Ala99Pro) c.213-969G>C c.435+8611G>C (n.435+8611G>C) c.415G>C (p.Ala139Pro) n.328G>C c.-11+13269G>C (n.-11+13269G>C) c.178G>C (p.Ala60Pro) c.472G>C (p.Ala158Pro) | |
| 7 | g.50529249C>T | CA367526689 | DDC,FIGNL1 | c.529G>A (p.Ala177Thr) c.295G>A (p.Ala99Thr) c.213-969G>A c.435+8611G>A (n.435+8611G>A) c.415G>A (p.Ala139Thr) n.328G>A c.-11+13269G>A (n.-11+13269G>A) c.178G>A (p.Ala60Thr) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.50529250C>A | CA4262344 | DDC,FIGNL1 | c.528G>T (p.Gln176His) c.294G>T (p.Gln98His) c.213-970G>T c.435+8610G>T (n.435+8610G>T) c.414G>T (p.Gln138His) n.327G>T c.-11+13268G>T (n.-11+13268G>T) c.177G>T (p.Gln59His) c.471G>T (p.Gln157His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50529250C= | CA1706649165 | DDC,FIGNL1 | c.528G= (p.Gln176=) c.294G= (p.Gln98=) c.213-970G= c.435+8610G= (n.435+8610G=) c.414G= (p.Gln138=) n.327G= c.-11+13268G= (n.-11+13268G=) c.177G= (p.Gln59=) c.471G= (p.Gln157=) | |
| 7 | g.50529250C>G | CA367526690 | DDC,FIGNL1 | c.528G>C (p.Gln176His) c.294G>C (p.Gln98His) c.213-970G>C c.435+8610G>C (n.435+8610G>C) c.414G>C (p.Gln138His) n.327G>C c.-11+13268G>C (n.-11+13268G>C) c.177G>C (p.Gln59His) c.471G>C (p.Gln157His) | |
| 7 | g.50529250C>T | CA454937511 | DDC,FIGNL1 | c.528G>A (p.Gln176=) c.294G>A (p.Gln98=) c.213-970G>A c.435+8610G>A (n.435+8610G>A) c.414G>A (p.Gln138=) n.327G>A c.-11+13268G>A (n.-11+13268G>A) c.177G>A (p.Gln59=) c.471G>A (p.Gln157=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50529251T>A | CA367526691 | DDC,FIGNL1 | c.527A>T (p.Gln176Leu) c.293A>T (p.Gln98Leu) c.213-971A>T c.435+8609A>T (n.435+8609A>T) c.413A>T (p.Gln138Leu) n.326A>T c.-11+13267A>T (n.-11+13267A>T) c.176A>T (p.Gln59Leu) c.470A>T (p.Gln157Leu) | gnomAD v4 |
| 7 | g.50529251T>C | CA4262345 | DDC,FIGNL1 | c.527A>G (p.Gln176Arg) c.293A>G (p.Gln98Arg) c.213-971A>G c.435+8609A>G (n.435+8609A>G) c.413A>G (p.Gln138Arg) n.326A>G c.-11+13267A>G (n.-11+13267A>G) c.176A>G (p.Gln59Arg) c.470A>G (p.Gln157Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50529251T>G | CA367526692 | DDC,FIGNL1 | c.527A>C (p.Gln176Pro) c.293A>C (p.Gln98Pro) c.213-971A>C c.435+8609A>C (n.435+8609A>C) c.413A>C (p.Gln138Pro) n.326A>C c.-11+13267A>C (n.-11+13267A>C) c.176A>C (p.Gln59Pro) c.470A>C (p.Gln157Pro) | |
| 7 | g.50529251T= | CA1706649167 | DDC,FIGNL1 | c.527A= (p.Gln176=) c.293A= (p.Gln98=) c.213-971A= c.435+8609A= (n.435+8609A=) c.413A= (p.Gln138=) n.326A= c.-11+13267A= (n.-11+13267A=) c.176A= (p.Gln59=) c.470A= (p.Gln157=) | |
| 7 | g.50529252G>A | CA367526693 | DDC,FIGNL1 | c.526C>T (p.Gln176Ter) c.292C>T (p.Gln98Ter) c.213-972C>T c.435+8608C>T (n.435+8608C>T) c.412C>T (p.Gln138Ter) n.325C>T c.-11+13266C>T (n.-11+13266C>T) c.175C>T (p.Gln59Ter) c.469C>T (p.Gln157Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50529252G>C | CA367526694 | DDC,FIGNL1 | c.526C>G (p.Gln176Glu) c.292C>G (p.Gln98Glu) c.213-972C>G c.435+8608C>G (n.435+8608C>G) c.412C>G (p.Gln138Glu) n.325C>G c.-11+13266C>G (n.-11+13266C>G) c.175C>G (p.Gln59Glu) c.469C>G (p.Gln157Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50529252G= | CA1706649170 | DDC,FIGNL1 | c.526C= (p.Gln176=) c.292C= (p.Gln98=) c.213-972C= c.435+8608C= (n.435+8608C=) c.412C= (p.Gln138=) n.325C= c.-11+13266C= (n.-11+13266C=) c.175C= (p.Gln59=) c.469C= (p.Gln157=) | |
| 7 | g.50529252G>T | CA4262346 | DDC,FIGNL1 | c.526C>A (p.Gln176Lys) c.292C>A (p.Gln98Lys) c.213-972C>A c.435+8608C>A (n.435+8608C>A) c.412C>A (p.Gln138Lys) n.325C>A c.-11+13266C>A (n.-11+13266C>A) c.175C>A (p.Gln59Lys) c.469C>A (p.Gln157Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |