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 |
|---|---|---|---|---|---|
| 1 | g.155904365G>A | CA203089 | RIT1 | c.*104C>T (n.*104C>T) c.267C>T (p.Asp89=) c.*46C>T (n.*46C>T) c.375C>T (p.Asp125=) c.378C>T (p.Asp126=) c.426C>T (p.Asp142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904365G>C | CA342802273 | RIT1 | c.*104C>G (n.*104C>G) c.267C>G (p.Asp89Glu) c.*46C>G (n.*46C>G) c.375C>G (p.Asp125Glu) c.378C>G (p.Asp126Glu) c.426C>G (p.Asp142Glu) | |
| 1 | g.155904365G= | CA1140540018 | RIT1 | c.*104C= (n.*104C=) c.267C= (p.Asp89=) c.*46C= (n.*46C=) c.375C= (p.Asp125=) c.378C= (p.Asp126=) c.426C= (p.Asp142=) | |
| 1 | g.155904365G>T | CA342802276 | RIT1 | c.*104C>A (n.*104C>A) c.267C>A (p.Asp89Glu) c.*46C>A (n.*46C>A) c.375C>A (p.Asp125Glu) c.378C>A (p.Asp126Glu) c.426C>A (p.Asp142Glu) | ClinVar |
| 1 | g.155904366T>A | CA342802279 | RIT1 | c.*103A>T (n.*103A>T) c.266A>T (p.Asp89Val) c.*45A>T (n.*45A>T) c.374A>T (p.Asp125Val) c.377A>T (p.Asp126Val) c.425A>T (p.Asp142Val) | |
| 1 | g.155904366T>C | CA1151801 | RIT1 | c.*103A>G (n.*103A>G) c.266A>G (p.Asp89Gly) c.*45A>G (n.*45A>G) c.374A>G (p.Asp125Gly) c.377A>G (p.Asp126Gly) c.425A>G (p.Asp142Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904366T>G | CA342802281 | RIT1 | c.*103A>C (n.*103A>C) c.266A>C (p.Asp89Ala) c.*45A>C (n.*45A>C) c.374A>C (p.Asp125Ala) c.377A>C (p.Asp126Ala) c.425A>C (p.Asp142Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904366T= | CA1200375919 | RIT1 | c.*103A= (n.*103A=) c.266A= (p.Asp89=) c.*45A= (n.*45A=) c.374A= (p.Asp125=) c.377A= (p.Asp126=) c.425A= (p.Asp142=) | |
| 1 | g.155904367C>A | CA342802282 | RIT1 | c.*102G>T (n.*102G>T) c.265G>T (p.Asp89Tyr) c.*44G>T (n.*44G>T) c.373G>T (p.Asp125Tyr) c.376G>T (p.Asp126Tyr) c.424G>T (p.Asp142Tyr) | |
| 1 | g.155904367C= | CA1200375920 | RIT1 | c.*102G= (n.*102G=) c.265G= (p.Asp89=) c.*44G= (n.*44G=) c.373G= (p.Asp125=) c.376G= (p.Asp126=) c.424G= (p.Asp142=) | |
| 1 | g.155904367C>G | CA342802283 | RIT1 | c.*102G>C (n.*102G>C) c.265G>C (p.Asp89His) c.*44G>C (n.*44G>C) c.373G>C (p.Asp125His) c.376G>C (p.Asp126His) c.424G>C (p.Asp142His) | |
| 1 | g.155904367C>T | CA342802284 | RIT1 | c.*102G>A (n.*102G>A) c.265G>A (p.Asp89Asn) c.*44G>A (n.*44G>A) c.373G>A (p.Asp125Asn) c.376G>A (p.Asp126Asn) c.424G>A (p.Asp142Asn) | ClinVar dbSNP |
| 1 | g.155904368A>C | CA421058854 | RIT1 | c.*101T>G (n.*101T>G) c.264T>G (p.Thr88=) c.*43T>G (n.*43T>G) c.372T>G (p.Thr124=) c.375T>G (p.Thr125=) c.423T>G (p.Thr141=) | COSMIC |
| 1 | g.155904368A>G | CA421058856 | RIT1 | c.*101T>C (n.*101T>C) c.264T>C (p.Thr88=) c.*43T>C (n.*43T>C) c.372T>C (p.Thr124=) c.375T>C (p.Thr125=) c.423T>C (p.Thr141=) | |
| 1 | g.155904368A>T | CA421058857 | RIT1 | c.*101T>A (n.*101T>A) c.264T>A (p.Thr88=) c.*43T>A (n.*43T>A) c.372T>A (p.Thr124=) c.375T>A (p.Thr125=) c.423T>A (p.Thr141=) | |
| 1 | g.155904369G>A | CA342802285 | RIT1 | c.*100C>T (n.*100C>T) c.263C>T (p.Thr88Ile) c.*42C>T (n.*42C>T) c.371C>T (p.Thr124Ile) c.374C>T (p.Thr125Ile) c.422C>T (p.Thr141Ile) | |
| 1 | g.155904369G>C | CA342802286 | RIT1 | c.*100C>G (n.*100C>G) c.263C>G (p.Thr88Ser) c.*42C>G (n.*42C>G) c.371C>G (p.Thr124Ser) c.374C>G (p.Thr125Ser) c.422C>G (p.Thr141Ser) | |
| 1 | g.155904369G>T | CA342802287 | RIT1 | c.*100C>A (n.*100C>A) c.263C>A (p.Thr88Asn) c.*42C>A (n.*42C>A) c.371C>A (p.Thr124Asn) c.374C>A (p.Thr125Asn) c.422C>A (p.Thr141Asn) | |
| 1 | g.155904370T>A | CA342802288 | RIT1 | c.*99A>T (n.*99A>T) c.262A>T (p.Thr88Ser) c.*41A>T (n.*41A>T) c.370A>T (p.Thr124Ser) c.373A>T (p.Thr125Ser) c.421A>T (p.Thr141Ser) | |
| 1 | g.155904370T>C | CA342802289 | RIT1 | c.*99A>G (n.*99A>G) c.262A>G (p.Thr88Ala) c.*41A>G (n.*41A>G) c.370A>G (p.Thr124Ala) c.373A>G (p.Thr125Ala) c.421A>G (p.Thr141Ala) | |
| 1 | g.155904370T>G | CA342802290 | RIT1 | c.*99A>C (n.*99A>C) c.262A>C (p.Thr88Pro) c.*41A>C (n.*41A>C) c.370A>C (p.Thr124Pro) c.373A>C (p.Thr125Pro) c.421A>C (p.Thr141Pro) | |
| 1 | g.155904371A= | CA1200375921 | RIT1 | c.*98T= (n.*98T=) c.261T= (p.Arg87=) c.*40T= (n.*40T=) c.369T= (p.Arg123=) c.372T= (p.Arg124=) c.420T= (p.Arg140=) | |
| 1 | g.155904371A>C | CA421058859 | RIT1 | c.*98T>G (n.*98T>G) c.261T>G (p.Arg87=) c.*40T>G (n.*40T>G) c.369T>G (p.Arg123=) c.372T>G (p.Arg124=) c.420T>G (p.Arg140=) | |
| 1 | g.155904371A>G | CA421058861 | RIT1 | c.*98T>C (n.*98T>C) c.261T>C (p.Arg87=) c.*40T>C (n.*40T>C) c.369T>C (p.Arg123=) c.372T>C (p.Arg124=) c.420T>C (p.Arg140=) | dbSNP |
| 1 | g.155904371A>T | CA421058864 | RIT1 | c.*98T>A (n.*98T>A) c.261T>A (p.Arg87=) c.*40T>A (n.*40T>A) c.369T>A (p.Arg123=) c.372T>A (p.Arg124=) c.420T>A (p.Arg140=) | dbSNP gnomAD v4 |
| 1 | g.155904372C>A | CA342802291 | RIT1 | c.*97G>T (n.*97G>T) c.260G>T (p.Arg87Leu) c.*39G>T (n.*39G>T) c.368G>T (p.Arg123Leu) c.371G>T (p.Arg124Leu) c.419G>T (p.Arg140Leu) | |
| 1 | g.155904372C= | CA1200375922 | RIT1 | c.*97G= (n.*97G=) c.260G= (p.Arg87=) c.*39G= (n.*39G=) c.368G= (p.Arg123=) c.371G= (p.Arg124=) c.419G= (p.Arg140=) | |
| 1 | g.155904372C>G | CA342802292 | RIT1 | c.*97G>C (n.*97G>C) c.260G>C (p.Arg87Pro) c.*39G>C (n.*39G>C) c.368G>C (p.Arg123Pro) c.371G>C (p.Arg124Pro) c.419G>C (p.Arg140Pro) | |
| 1 | g.155904372C>T | CA30984321 | RIT1 | c.*97G>A (n.*97G>A) c.260G>A (p.Arg87His) c.*39G>A (n.*39G>A) c.368G>A (p.Arg123His) c.371G>A (p.Arg124His) c.419G>A (p.Arg140His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155904373G>A | CA342802293 | RIT1 | c.*96C>T (n.*96C>T) c.259C>T (p.Arg87Cys) c.*38C>T (n.*38C>T) c.367C>T (p.Arg123Cys) c.370C>T (p.Arg124Cys) c.418C>T (p.Arg140Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904373G>C | CA342802294 | RIT1 | c.*96C>G (n.*96C>G) c.259C>G (p.Arg87Gly) c.*38C>G (n.*38C>G) c.367C>G (p.Arg123Gly) c.370C>G (p.Arg124Gly) c.418C>G (p.Arg140Gly) | |
| 1 | g.155904373G= | CA1200375923 | RIT1 | c.*96C= (n.*96C=) c.259C= (p.Arg87=) c.*38C= (n.*38C=) c.367C= (p.Arg123=) c.370C= (p.Arg124=) c.418C= (p.Arg140=) | |
| 1 | g.155904373G>T | CA342802295 | RIT1 | c.*96C>A (n.*96C>A) c.259C>A (p.Arg87Ser) c.*38C>A (n.*38C>A) c.367C>A (p.Arg123Ser) c.370C>A (p.Arg124Ser) c.418C>A (p.Arg140Ser) | |
| 1 | g.155904374T>A | CA421058870 | RIT1 | c.*95A>T (n.*95A>T) c.258A>T (p.Arg86=) c.*37A>T (n.*37A>T) c.366A>T (p.Arg122=) c.369A>T (p.Arg123=) c.417A>T (p.Arg139=) | |
| 1 | g.155904374T>C | CA1151802 | RIT1 | c.*95A>G (n.*95A>G) c.258A>G (p.Arg86=) c.*37A>G (n.*37A>G) c.366A>G (p.Arg122=) c.369A>G (p.Arg123=) c.417A>G (p.Arg139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904374T>G | CA421058868 | RIT1 | c.*95A>C (n.*95A>C) c.258A>C (p.Arg86=) c.*37A>C (n.*37A>C) c.366A>C (p.Arg122=) c.369A>C (p.Arg123=) c.417A>C (p.Arg139=) | |
| 1 | g.155904374T= | CA1200375924 | RIT1 | c.*95A= (n.*95A=) c.258A= (p.Arg86=) c.*37A= (n.*37A=) c.366A= (p.Arg122=) c.369A= (p.Arg123=) c.417A= (p.Arg139=) | |
| 1 | g.155904375C>A | CA10602738 | RIT1 | c.*94G>T (n.*94G>T) c.257G>T (p.Arg86Leu) c.*36G>T (n.*36G>T) c.365G>T (p.Arg122Leu) c.368G>T (p.Arg123Leu) c.416G>T (p.Arg139Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.155904375C= | CA1200375925 | RIT1 | c.*94G= (n.*94G=) c.257G= (p.Arg86=) c.*36G= (n.*36G=) c.365G= (p.Arg122=) c.368G= (p.Arg123=) c.416G= (p.Arg139=) | |
| 1 | g.155904375C>G | CA342802296 | RIT1 | c.*94G>C (n.*94G>C) c.257G>C (p.Arg86Pro) c.*36G>C (n.*36G>C) c.365G>C (p.Arg122Pro) c.368G>C (p.Arg123Pro) c.416G>C (p.Arg139Pro) | |
| 1 | g.155904375C>T | CA1151803 | RIT1 | c.*94G>A (n.*94G>A) c.257G>A (p.Arg86Gln) c.*36G>A (n.*36G>A) c.365G>A (p.Arg122Gln) c.368G>A (p.Arg123Gln) c.416G>A (p.Arg139Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155904376G>A | CA342802297 | RIT1 | c.*93C>T (n.*93C>T) c.256C>T (p.Arg86Ter) c.*35C>T (n.*35C>T) c.364C>T (p.Arg122Ter) c.367C>T (p.Arg123Ter) c.415C>T (p.Arg139Ter) | gnomAD v4 COSMIC |
| 1 | g.155904376G>C | CA342802298 | RIT1 | c.*93C>G (n.*93C>G) c.256C>G (p.Arg86Gly) c.*35C>G (n.*35C>G) c.364C>G (p.Arg122Gly) c.367C>G (p.Arg123Gly) c.415C>G (p.Arg139Gly) | |
| 1 | g.155904376G= | CA1200375926 | RIT1 | c.*93C= (n.*93C=) c.256C= (p.Arg86=) c.*35C= (n.*35C=) c.364C= (p.Arg122=) c.367C= (p.Arg123=) c.415C= (p.Arg139=) | |
| 1 | g.155904376G>T | CA421058874 | RIT1 | c.*93C>A (n.*93C>A) c.256C>A (p.Arg86=) c.*35C>A (n.*35C>A) c.364C>A (p.Arg122=) c.367C>A (p.Arg123=) c.415C>A (p.Arg139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904377G>A | CA421058876 | RIT1 | c.*92C>T (n.*92C>T) c.255C>T (p.Val85=) c.*34C>T (n.*34C>T) c.363C>T (p.Val121=) c.366C>T (p.Val122=) c.414C>T (p.Val138=) | |
| 1 | g.155904377G>C | CA421058877 | RIT1 | c.*92C>G (n.*92C>G) c.255C>G (p.Val85=) c.*34C>G (n.*34C>G) c.363C>G (p.Val121=) c.366C>G (p.Val122=) c.414C>G (p.Val138=) | |
| 1 | g.155904377G>T | CA421058878 | RIT1 | c.*92C>A (n.*92C>A) c.255C>A (p.Val85=) c.*34C>A (n.*34C>A) c.363C>A (p.Val121=) c.366C>A (p.Val122=) c.414C>A (p.Val138=) | |
| 1 | g.155904378A>C | CA342802299 | RIT1 | c.*91T>G (n.*91T>G) c.254T>G (p.Val85Gly) c.*33T>G (n.*33T>G) c.362T>G (p.Val121Gly) c.365T>G (p.Val122Gly) c.413T>G (p.Val138Gly) | |
| 1 | g.155904378A>G | CA342802301 | RIT1 | c.*91T>C (n.*91T>C) c.254T>C (p.Val85Ala) c.*33T>C (n.*33T>C) c.362T>C (p.Val121Ala) c.365T>C (p.Val122Ala) c.413T>C (p.Val138Ala) |