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 |
|---|---|---|---|---|---|
| 15 | g.48437868_48437870del | CA016291 | FBN1 | c.6214_6216del (p.Ser2072del) c.1213_1215del (p.Ser405del) c.*1977_*1979del (n.*1977_*1979del) c.1521_1523del n.334_336del | ClinVar dbSNP |
| 15 | g.48437868T>A | CA490019995 | FBN1 | c.6213A>T (p.Ser2071=) c.1212A>T (p.Ser404=) c.*1976A>T (n.*1976A>T) c.1520A>T n.333A>T | |
| 15 | g.48437868T>C | CA490019997 | FBN1 | c.6213A>G (p.Ser2071=) c.1212A>G (p.Ser404=) c.*1976A>G (n.*1976A>G) c.1520A>G n.333A>G | |
| 15 | g.48437868T>G | CA490019999 | FBN1 | c.6213A>C (p.Ser2071=) c.1212A>C (p.Ser404=) c.*1976A>C (n.*1976A>C) c.1520A>C n.333A>C | |
| 15 | g.48437869G>A | CA392337125 | FBN1 | c.6212C>T (p.Ser2071Leu) c.1211C>T (p.Ser404Leu) c.*1975C>T (n.*1975C>T) c.1519C>T n.332C>T | |
| 15 | g.48437869G>C | CA392337129 | FBN1 | c.6212C>G (p.Ser2071Ter) c.1211C>G (p.Ser404Ter) c.*1975C>G (n.*1975C>G) c.1519C>G n.332C>G | |
| 15 | g.48437869G>T | CA392337127 | FBN1 | c.6212C>A (p.Ser2071Ter) c.1211C>A (p.Ser404Ter) c.*1975C>A (n.*1975C>A) c.1519C>A n.332C>A | gnomAD v4 |
| 15 | g.48437870A>C | CA392337130 | FBN1 | c.6211T>G (p.Ser2071Ala) c.1210T>G (p.Ser404Ala) c.*1974T>G (n.*1974T>G) c.1518T>G n.331T>G | |
| 15 | g.48437870A>G | CA392337134 | FBN1 | c.6211T>C (p.Ser2071Pro) c.1210T>C (p.Ser404Pro) c.*1974T>C (n.*1974T>C) c.1518T>C n.331T>C | |
| 15 | g.48437870A>T | CA392337136 | FBN1 | c.6211T>A (p.Ser2071Thr) c.1210T>A (p.Ser404Thr) c.*1974T>A (n.*1974T>A) c.1518T>A n.331T>A | |
| 15 | g.48437871A>C | CA392337138 | FBN1 | c.6210T>G (p.Cys2070Trp) c.1209T>G (p.Cys403Trp) c.*1973T>G (n.*1973T>G) c.1517T>G n.330T>G | |
| 15 | g.48437871A>G | CA490020008 | FBN1 | c.6210T>C (p.Cys2070=) c.1209T>C (p.Cys403=) c.*1973T>C (n.*1973T>C) c.1517T>C n.330T>C | |
| 15 | g.48437871A>T | CA392337140 | FBN1 | c.6210T>A (p.Cys2070Ter) c.1209T>A (p.Cys403Ter) c.*1973T>A (n.*1973T>A) c.1517T>A n.330T>A | |
| 15 | g.48437872C>A | CA16614630 | FBN1 | c.6209G>T (p.Cys2070Phe) c.1208G>T (p.Cys403Phe) c.*1972G>T (n.*1972G>T) c.1516G>T n.329G>T | ClinVar dbSNP |
| 15 | g.48437872C= | CA2175503929 | FBN1 | c.6209G= (p.Cys2070=) c.1208G= (p.Cys403=) c.*1972G= (n.*1972G=) c.1516G= n.329G= | |
| 15 | g.48437872C>G | CA392337143 | FBN1 | c.6209G>C (p.Cys2070Ser) c.1208G>C (p.Cys403Ser) c.*1972G>C (n.*1972G>C) c.1516G>C n.329G>C | |
| 15 | g.48437872C>T | CA392337145 | FBN1 | c.6209G>A (p.Cys2070Tyr) c.1208G>A (p.Cys403Tyr) c.*1972G>A (n.*1972G>A) c.1516G>A n.329G>A | ClinVar dbSNP |
| 15 | g.48437873A>C | CA392337147 | FBN1 | c.6208T>G (p.Cys2070Gly) c.1207T>G (p.Cys403Gly) c.*1971T>G (n.*1971T>G) c.1515T>G n.328T>G | |
| 15 | g.48437873A>G | CA392337149 | FBN1 | c.6208T>C (p.Cys2070Arg) c.1207T>C (p.Cys403Arg) c.*1971T>C (n.*1971T>C) c.1515T>C n.328T>C | ClinVar |
| 15 | g.48437873A>T | CA392337151 | FBN1 | c.6208T>A (p.Cys2070Ser) c.1207T>A (p.Cys403Ser) c.*1971T>A (n.*1971T>A) c.1515T>A n.328T>A | |
| 15 | g.48437874del | CA2695220177 | FBN1 | c.6207del (p.Lys2069AsnfsTer19) c.1206del (p.Lys402AsnfsTer19) c.*1970del (n.*1970del) c.1514del n.327del | |
| 15 | g.48437874C>A | CA392337154 | FBN1 | c.6207G>T (p.Lys2069Asn) c.1206G>T (p.Lys402Asn) c.*1970G>T (n.*1970G>T) c.1514G>T n.327G>T | |
| 15 | g.48437874C= | CA2175503933 | FBN1 | c.6207G= (p.Lys2069=) c.1206G= (p.Lys402=) c.*1970G= (n.*1970G=) c.1514G= n.327G= | |
| 15 | g.48437874C>G | CA392337153 | FBN1 | c.6207G>C (p.Lys2069Asn) c.1206G>C (p.Lys402Asn) c.*1970G>C (n.*1970G>C) c.1514G>C n.327G>C | |
| 15 | g.48437874C>T | CA269526965 | FBN1 | c.6207G>A (p.Lys2069=) c.1206G>A (p.Lys402=) c.*1970G>A (n.*1970G>A) c.1514G>A n.327G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437874_48437875delinsCT | CA2175503935 | FBN1 | c.6206_6207delinsAG (p.Lys2069=) c.1205_1206delinsAG (p.Lys402=) c.*1969_*1970delinsAG (n.*1969_*1970delinsAG) c.1513_1514delinsAG n.326_327delinsAG | |
| 15 | g.48437875T>A | CA392337156 | FBN1 | c.6206A>T (p.Lys2069Met) c.1205A>T (p.Lys402Met) c.*1969A>T (n.*1969A>T) c.1513A>T n.326A>T | gnomAD v4 |
| 15 | g.48437875T>C | CA392337161 | FBN1 | c.6206A>G (p.Lys2069Arg) c.1205A>G (p.Lys402Arg) c.*1969A>G (n.*1969A>G) c.1513A>G n.326A>G | dbSNP gnomAD v4 |
| 15 | g.48437875T>G | CA392337163 | FBN1 | c.6206A>C (p.Lys2069Thr) c.1205A>C (p.Lys402Thr) c.*1969A>C (n.*1969A>C) c.1513A>C n.326A>C | |
| 15 | g.48437875T= | CA2175503945 | FBN1 | c.6206A= (p.Lys2069=) c.1205A= (p.Lys402=) c.*1969A= (n.*1969A=) c.1513A= n.326A= | |
| 15 | g.48437877del | CA16043006 | FBN1 | c.6206del (p.Lys2069SerfsTer19) c.1205del (p.Lys402SerfsTer19) c.*1969del (n.*1969del) c.1513del n.326del | ClinVar dbSNP |
| 15 | g.48437876T>A | CA392337165 | FBN1 | c.6205A>T (p.Lys2069Ter) c.1204A>T (p.Lys402Ter) c.*1968A>T (n.*1968A>T) c.1512A>T n.325A>T | |
| 15 | g.48437876T>C | CA392337167 | FBN1 | c.6205A>G (p.Lys2069Glu) c.1204A>G (p.Lys402Glu) c.*1968A>G (n.*1968A>G) c.1512A>G n.325A>G | gnomAD v4 |
| 15 | g.48437876T>G | CA392337169 | FBN1 | c.6205A>C (p.Lys2069Gln) c.1204A>C (p.Lys402Gln) c.*1968A>C (n.*1968A>C) c.1512A>C n.325A>C | |
| 15 | g.48437877T>A | CA490020028 | FBN1 | c.6204A>T (p.Gly2068=) c.1203A>T (p.Gly401=) c.*1967A>T (n.*1967A>T) c.1511A>T n.324A>T | dbSNP gnomAD v2 |
| 15 | g.48437877T>C | CA490020029 | FBN1 | c.6204A>G (p.Gly2068=) c.1203A>G (p.Gly401=) c.*1967A>G (n.*1967A>G) c.1511A>G n.324A>G | gnomAD v4 |
| 15 | g.48437877T>G | CA490020032 | FBN1 | c.6204A>C (p.Gly2068=) c.1203A>C (p.Gly401=) c.*1967A>C (n.*1967A>C) c.1511A>C n.324A>C | |
| 15 | g.48437877T= | CA2175503948 | FBN1 | c.6204A= (p.Gly2068=) c.1203A= (p.Gly401=) c.*1967A= (n.*1967A=) c.1511A= n.324A= | |
| 15 | g.48437878C>A | CA392337172 | FBN1 | c.6203G>T (p.Gly2068Val) c.1202G>T (p.Gly401Val) c.*1966G>T (n.*1966G>T) c.1510G>T n.323G>T | |
| 15 | g.48437878C>G | CA392337173 | FBN1 | c.6203G>C (p.Gly2068Ala) c.1202G>C (p.Gly401Ala) c.*1966G>C (n.*1966G>C) c.1510G>C n.323G>C | |
| 15 | g.48437878C>T | CA392337174 | FBN1 | c.6203G>A (p.Gly2068Glu) c.1202G>A (p.Gly401Glu) c.*1966G>A (n.*1966G>A) c.1510G>A n.323G>A | |
| 15 | g.48437879C>A | CA392337175 | FBN1 | c.6202G>T (p.Gly2068Ter) c.1201G>T (p.Gly401Ter) c.*1965G>T (n.*1965G>T) c.1509G>T n.322G>T | |
| 15 | g.48437879C>G | CA392337176 | FBN1 | c.6202G>C (p.Gly2068Arg) c.1201G>C (p.Gly401Arg) c.*1965G>C (n.*1965G>C) c.1509G>C n.322G>C | gnomAD v4 |
| 15 | g.48437879C>T | CA392337178 | FBN1 | c.6202G>A (p.Gly2068Arg) c.1201G>A (p.Gly401Arg) c.*1965G>A (n.*1965G>A) c.1509G>A n.322G>A | |
| 15 | g.48437880T>A | CA490020037 | FBN1 | c.6201A>T (p.Gly2067=) c.1200A>T (p.Gly400=) c.*1964A>T (n.*1964A>T) c.1508A>T n.321A>T | |
| 15 | g.48437880T>C | CA490020039 | FBN1 | c.6201A>G (p.Gly2067=) c.1200A>G (p.Gly400=) c.*1964A>G (n.*1964A>G) c.1508A>G n.321A>G | |
| 15 | g.48437880T>G | CA490020040 | FBN1 | c.6201A>C (p.Gly2067=) c.1200A>C (p.Gly400=) c.*1964A>C (n.*1964A>C) c.1508A>C n.321A>C | |
| 15 | g.48437881C>A | CA392337183 | FBN1 | c.6200G>T (p.Gly2067Val) c.1199G>T (p.Gly400Val) c.*1963G>T (n.*1963G>T) c.1507G>T n.320G>T | |
| 15 | g.48437881C>G | CA392337184 | FBN1 | c.6200G>C (p.Gly2067Ala) c.1199G>C (p.Gly400Ala) c.*1963G>C (n.*1963G>C) c.1507G>C n.320G>C | |
| 15 | g.48437881C>T | CA392337181 | FBN1 | c.6200G>A (p.Gly2067Glu) c.1199G>A (p.Gly400Glu) c.*1963G>A (n.*1963G>A) c.1507G>A n.320G>A |