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 |
|---|---|---|---|---|---|
| 12 | g.51914498A= | CA2036269053 | ACVRL1 | c.415A= (p.Lys139=) c.685A= (p.Lys229=) c.163A= (p.Lys55=) c.727A= (p.Lys243=) c.-105A= (n.-105A=) | |
| 12 | g.51914498A>C | CA384900068 | ACVRL1 | c.415A>C (p.Lys139Gln) c.685A>C (p.Lys229Gln) c.163A>C (p.Lys55Gln) c.727A>C (p.Lys243Gln) c.-105A>C (n.-105A>C) | |
| 12 | g.51914498A>G | CA384900069 | ACVRL1 | c.415A>G (p.Lys139Glu) c.685A>G (p.Lys229Glu) c.163A>G (p.Lys55Glu) c.727A>G (p.Lys243Glu) c.-105A>G (n.-105A>G) | ClinVar dbSNP |
| 12 | g.51914498A>T | CA384900070 | ACVRL1 | c.415A>T (p.Lys139Ter) c.685A>T (p.Lys229Ter) c.163A>T (p.Lys55Ter) c.727A>T (p.Lys243Ter) c.-105A>T (n.-105A>T) | |
| 12 | g.51914499A= | CA2036269061 | ACVRL1 | c.416A= (p.Lys139=) c.686A= (p.Lys229=) c.164A= (p.Lys55=) c.728A= (p.Lys243=) c.-104A= (n.-104A=) | |
| 12 | g.51914499A>C | CA384900071 | ACVRL1 | c.416A>C (p.Lys139Thr) c.686A>C (p.Lys229Thr) c.164A>C (p.Lys55Thr) c.728A>C (p.Lys243Thr) c.-104A>C (n.-104A>C) | |
| 12 | g.51914499A>G | CA384900072 | ACVRL1 | c.416A>G (p.Lys139Arg) c.686A>G (p.Lys229Arg) c.164A>G (p.Lys55Arg) c.728A>G (p.Lys243Arg) c.-104A>G (n.-104A>G) | ClinVar |
| 12 | g.51914499A>T | CA384900073 | ACVRL1 | c.416A>T (p.Lys139Met) c.686A>T (p.Lys229Met) c.164A>T (p.Lys55Met) c.728A>T (p.Lys243Met) c.-104A>T (n.-104A>T) | ClinVar dbSNP |
| 12 | g.51914500G>A | CA479807858 | ACVRL1 | c.417G>A (p.Lys139=) c.687G>A (p.Lys229=) c.165G>A (p.Lys55=) c.729G>A (p.Lys243=) c.-103G>A (n.-103G>A) | gnomAD v4 |
| 12 | g.51914500G>C | CA384900074 | ACVRL1 | c.417G>C (p.Lys139Asn) c.687G>C (p.Lys229Asn) c.165G>C (p.Lys55Asn) c.729G>C (p.Lys243Asn) c.-103G>C (n.-103G>C) | ClinVar dbSNP |
| 12 | g.51914500G= | CA2036269065 | ACVRL1 | c.417G= (p.Lys139=) c.687G= (p.Lys229=) c.165G= (p.Lys55=) c.729G= (p.Lys243=) c.-103G= (n.-103G=) | |
| 12 | g.51914500G>T | CA384900075 | ACVRL1 | c.417G>T (p.Lys139Asn) c.687G>T (p.Lys229Asn) c.165G>T (p.Lys55Asn) c.729G>T (p.Lys243Asn) c.-103G>T (n.-103G>T) | |
| 12 | g.51914501A>C | CA384900076 | ACVRL1 | c.418A>C (p.Ile140Leu) c.688A>C (p.Ile230Leu) c.166A>C (p.Ile56Leu) c.730A>C (p.Ile244Leu) c.-102A>C (n.-102A>C) | |
| 12 | g.51914501A>G | CA384900077 | ACVRL1 | c.418A>G (p.Ile140Val) c.688A>G (p.Ile230Val) c.166A>G (p.Ile56Val) c.730A>G (p.Ile244Val) c.-102A>G (n.-102A>G) | |
| 12 | g.51914501A>T | CA384900078 | ACVRL1 | c.418A>T (p.Ile140Phe) c.688A>T (p.Ile230Phe) c.166A>T (p.Ile56Phe) c.730A>T (p.Ile244Phe) c.-102A>T (n.-102A>T) | ClinVar |
| 12 | g.51914502T>A | CA384900079 | ACVRL1 | c.419T>A (p.Ile140Asn) c.689T>A (p.Ile230Asn) c.167T>A (p.Ile56Asn) c.731T>A (p.Ile244Asn) c.-101T>A (n.-101T>A) | |
| 12 | g.51914502T>C | CA384900080 | ACVRL1 | c.419T>C (p.Ile140Thr) c.689T>C (p.Ile230Thr) c.167T>C (p.Ile56Thr) c.731T>C (p.Ile244Thr) c.-101T>C (n.-101T>C) | |
| 12 | g.51914502T>G | CA384900081 | ACVRL1 | c.419T>G (p.Ile140Ser) c.689T>G (p.Ile230Ser) c.167T>G (p.Ile56Ser) c.731T>G (p.Ile244Ser) c.-101T>G (n.-101T>G) | |
| 12 | g.51914505_51914507del | CA2580615205 | ACVRL1 | c.422_424del (p.Phe141del) c.692_694del (p.Phe231del) c.170_172del (p.Phe57del) c.734_736del (p.Phe245del) c.-98_-96del (n.-98_-96del) | ClinVar |
| 12 | g.51914503C>A | CA479807872 | ACVRL1 | c.420C>A (p.Ile140=) c.690C>A (p.Ile230=) c.168C>A (p.Ile56=) c.732C>A (p.Ile244=) c.-100C>A (n.-100C>A) | |
| 12 | g.51914503C>G | CA384900082 | ACVRL1 | c.420C>G (p.Ile140Met) c.690C>G (p.Ile230Met) c.168C>G (p.Ile56Met) c.732C>G (p.Ile244Met) c.-100C>G (n.-100C>G) | |
| 12 | g.51914503C>T | CA479807879 | ACVRL1 | c.420C>T (p.Ile140=) c.690C>T (p.Ile230=) c.168C>T (p.Ile56=) c.732C>T (p.Ile244=) c.-100C>T (n.-100C>T) | gnomAD v4 |
| 12 | g.51914504T>A | CA384900083 | ACVRL1 | c.421T>A (p.Phe141Ile) c.691T>A (p.Phe231Ile) c.169T>A (p.Phe57Ile) c.733T>A (p.Phe245Ile) c.-99T>A (n.-99T>A) | |
| 12 | g.51914504T>C | CA384900084 | ACVRL1 | c.421T>C (p.Phe141Leu) c.691T>C (p.Phe231Leu) c.169T>C (p.Phe57Leu) c.733T>C (p.Phe245Leu) c.-99T>C (n.-99T>C) | |
| 12 | g.51914504T>G | CA384900085 | ACVRL1 | c.421T>G (p.Phe141Val) c.691T>G (p.Phe231Val) c.169T>G (p.Phe57Val) c.733T>G (p.Phe245Val) c.-99T>G (n.-99T>G) | |
| 12 | g.51914505T>A | CA384900086 | ACVRL1 | c.422T>A (p.Phe141Tyr) c.692T>A (p.Phe231Tyr) c.170T>A (p.Phe57Tyr) c.734T>A (p.Phe245Tyr) c.-98T>A (n.-98T>A) | |
| 12 | g.51914505T>C | CA384900087 | ACVRL1 | c.422T>C (p.Phe141Ser) c.692T>C (p.Phe231Ser) c.170T>C (p.Phe57Ser) c.734T>C (p.Phe245Ser) c.-98T>C (n.-98T>C) | |
| 12 | g.51914505T>G | CA384900088 | ACVRL1 | c.422T>G (p.Phe141Cys) c.692T>G (p.Phe231Cys) c.170T>G (p.Phe57Cys) c.734T>G (p.Phe245Cys) c.-98T>G (n.-98T>G) | |
| 12 | g.51914505_51914508delinsTCTC | CA2036269070 | ACVRL1 | c.422_425delinsTCTC (p.Phe141=) c.692_695delinsTCTC (p.Phe231=) c.170_173delinsTCTC (p.Phe57=) c.734_737delinsTCTC (p.Phe245=) c.-98_-95delinsTCTC (n.-98_-95delinsTCTC) | |
| 12 | g.51914506C>A | CA384900090 | ACVRL1 | c.423C>A (p.Phe141Leu) c.693C>A (p.Phe231Leu) c.171C>A (p.Phe57Leu) c.735C>A (p.Phe245Leu) c.-97C>A (n.-97C>A) | dbSNP |
| 12 | g.51914506C>G | CA384900089 | ACVRL1 | c.423C>G (p.Phe141Leu) c.693C>G (p.Phe231Leu) c.171C>G (p.Phe57Leu) c.735C>G (p.Phe245Leu) c.-97C>G (n.-97C>G) | |
| 12 | g.51914506C>T | CA479807897 | ACVRL1 | c.423C>T (p.Phe141=) c.693C>T (p.Phe231=) c.171C>T (p.Phe57=) c.735C>T (p.Phe245=) c.-97C>T (n.-97C>T) | |
| 12 | g.51914509_51914511del | CA254369 | ACVRL1 | c.426_428del (p.Ser143del) c.696_698del (p.Ser233del) c.174_176del (p.Ser59del) c.738_740del (p.Ser247del) c.-94_-92del (n.-94_-92del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914507T>A | CA384900091 | ACVRL1 | c.424T>A (p.Ser142Thr) c.694T>A (p.Ser232Thr) c.172T>A (p.Ser58Thr) c.736T>A (p.Ser246Thr) c.-96T>A (n.-96T>A) | |
| 12 | g.51914507T>C | CA384900092 | ACVRL1 | c.424T>C (p.Ser142Pro) c.694T>C (p.Ser232Pro) c.172T>C (p.Ser58Pro) c.736T>C (p.Ser246Pro) c.-96T>C (n.-96T>C) | |
| 12 | g.51914507T>G | CA384900093 | ACVRL1 | c.424T>G (p.Ser142Ala) c.694T>G (p.Ser232Ala) c.172T>G (p.Ser58Ala) c.736T>G (p.Ser246Ala) c.-96T>G (n.-96T>G) | |
| 12 | g.51914508C>A | CA384900094 | ACVRL1 | c.425C>A (p.Ser142Tyr) c.695C>A (p.Ser232Tyr) c.173C>A (p.Ser58Tyr) c.737C>A (p.Ser246Tyr) c.-95C>A (n.-95C>A) | |
| 12 | g.51914508C= | CA2036269078 | ACVRL1 | c.425C= (p.Ser142=) c.695C= (p.Ser232=) c.173C= (p.Ser58=) c.737C= (p.Ser246=) c.-95C= (n.-95C=) | |
| 12 | g.51914508C>G | CA384900095 | ACVRL1 | c.425C>G (p.Ser142Cys) c.695C>G (p.Ser232Cys) c.173C>G (p.Ser58Cys) c.737C>G (p.Ser246Cys) c.-95C>G (n.-95C>G) | |
| 12 | g.51914508C>T | CA384900096 | ACVRL1 | c.425C>T (p.Ser142Phe) c.695C>T (p.Ser232Phe) c.173C>T (p.Ser58Phe) c.737C>T (p.Ser246Phe) c.-95C>T (n.-95C>T) | dbSNP COSMIC COSMIC |
| 12 | g.51914509C>A | CA479807908 | ACVRL1 | c.426C>A (p.Ser142=) c.696C>A (p.Ser232=) c.174C>A (p.Ser58=) c.738C>A (p.Ser246=) c.-94C>A (n.-94C>A) | |
| 12 | g.51914509C= | CA2036269081 | ACVRL1 | c.426C= (p.Ser142=) c.696C= (p.Ser232=) c.174C= (p.Ser58=) c.738C= (p.Ser246=) c.-94C= (n.-94C=) | |
| 12 | g.51914509C>G | CA479807910 | ACVRL1 | c.426C>G (p.Ser142=) c.696C>G (p.Ser232=) c.174C>G (p.Ser58=) c.738C>G (p.Ser246=) c.-94C>G (n.-94C>G) | |
| 12 | g.51914509C>T | CA479807911 | ACVRL1 | c.426C>T (p.Ser142=) c.696C>T (p.Ser232=) c.174C>T (p.Ser58=) c.738C>T (p.Ser246=) c.-94C>T (n.-94C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914510T>A | CA384900097 | ACVRL1 | c.427T>A (p.Ser143Thr) c.697T>A (p.Ser233Thr) c.175T>A (p.Ser59Thr) c.739T>A (p.Ser247Thr) c.-93T>A (n.-93T>A) | |
| 12 | g.51914510T>C | CA384900098 | ACVRL1 | c.427T>C (p.Ser143Pro) c.697T>C (p.Ser233Pro) c.175T>C (p.Ser59Pro) c.739T>C (p.Ser247Pro) c.-93T>C (n.-93T>C) | |
| 12 | g.51914510T>G | CA384900099 | ACVRL1 | c.427T>G (p.Ser143Ala) c.697T>G (p.Ser233Ala) c.175T>G (p.Ser59Ala) c.739T>G (p.Ser247Ala) c.-93T>G (n.-93T>G) | |
| 12 | g.51914511C>A | CA384900100 | ACVRL1 | c.428C>A (p.Ser143Ter) c.698C>A (p.Ser233Ter) c.176C>A (p.Ser59Ter) c.740C>A (p.Ser247Ter) c.-92C>A (n.-92C>A) | |
| 12 | g.51914511C= | CA2036269086 | ACVRL1 | c.428C= (p.Ser143=) c.698C= (p.Ser233=) c.176C= (p.Ser59=) c.740C= (p.Ser247=) c.-92C= (n.-92C=) | |
| 12 | g.51914511C>G | CA384900101 | ACVRL1 | c.428C>G (p.Ser143Trp) c.698C>G (p.Ser233Trp) c.176C>G (p.Ser59Trp) c.740C>G (p.Ser247Trp) c.-92C>G (n.-92C>G) | ClinVar dbSNP |