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 |
|---|---|---|---|---|---|
| 16 | g.67942731T>A | CA396380286 | LCAT | c.463A>T (p.Asn155Tyr) c.155+130A>T c.247A>T (p.Asn83Tyr) c.106A>T (p.Asn36Tyr) n.77A>T n.241A>T c.*158A>T (n.*158A>T) | |
| 16 | g.67942731T>C | CA116431 | LCAT | c.463A>G (p.Asn155Asp) c.155+130A>G c.247A>G (p.Asn83Asp) c.106A>G (p.Asn36Asp) n.77A>G n.241A>G c.*158A>G (n.*158A>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.67942731T>G | CA396380290 | LCAT | c.463A>C (p.Asn155His) c.155+130A>C c.247A>C (p.Asn83His) c.106A>C (p.Asn36His) n.77A>C n.241A>C c.*158A>C (n.*158A>C) | |
| 16 | g.67942731T= | CA2229564511 | LCAT | c.463A= (p.Asn155=) c.155+130A= c.247A= (p.Asn83=) c.106A= (p.Asn36=) n.77A= n.241A= c.*158A= (n.*158A=) | |
| 16 | g.67942732G>A | CA496384197 | LCAT | c.462C>T (p.Asn154=) c.155+129C>T c.246C>T (p.Asn82=) c.105C>T (p.Asn35=) n.76C>T n.240C>T c.*157C>T (n.*157C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.67942732G>C | CA396380293 | LCAT | c.462C>G (p.Asn154Lys) c.155+129C>G c.246C>G (p.Asn82Lys) c.105C>G (p.Asn35Lys) n.76C>G n.240C>G c.*157C>G (n.*157C>G) | |
| 16 | g.67942732G= | CA2229564512 | LCAT | c.462C= (p.Asn154=) c.155+129C= c.246C= (p.Asn82=) c.105C= (p.Asn35=) n.76C= n.240C= c.*157C= (n.*157C=) | |
| 16 | g.67942732G>T | CA396380294 | LCAT | c.462C>A (p.Asn154Lys) c.155+129C>A c.246C>A (p.Asn82Lys) c.105C>A (p.Asn35Lys) n.76C>A n.240C>A c.*157C>A (n.*157C>A) | |
| 16 | g.67942733T>A | CA396380298 | LCAT | c.461A>T (p.Asn154Ile) c.155+128A>T c.245A>T (p.Asn82Ile) c.104A>T (p.Asn35Ile) n.75A>T n.239A>T c.*156A>T (n.*156A>T) | |
| 16 | g.67942733T>C | CA396380300 | LCAT | c.461A>G (p.Asn154Ser) c.155+128A>G c.245A>G (p.Asn82Ser) c.104A>G (p.Asn35Ser) n.75A>G n.239A>G c.*156A>G (n.*156A>G) | |
| 16 | g.67942733T>G | CA396380301 | LCAT | c.461A>C (p.Asn154Thr) c.155+128A>C c.245A>C (p.Asn82Thr) c.104A>C (p.Asn35Thr) n.75A>C n.239A>C c.*156A>C (n.*156A>C) | |
| 16 | g.67942734T>A | CA396380302 | LCAT | c.460A>T (p.Asn154Tyr) c.155+127A>T c.244A>T (p.Asn82Tyr) c.103A>T (p.Asn35Tyr) n.74A>T n.238A>T c.*155A>T (n.*155A>T) | |
| 16 | g.67942734T>C | CA396380305 | LCAT | c.460A>G (p.Asn154Asp) c.155+127A>G c.244A>G (p.Asn82Asp) c.103A>G (p.Asn35Asp) n.74A>G n.238A>G c.*155A>G (n.*155A>G) | |
| 16 | g.67942734T>G | CA396380307 | LCAT | c.460A>C (p.Asn154His) c.155+127A>C c.244A>C (p.Asn82His) c.103A>C (p.Asn35His) n.74A>C n.238A>C c.*155A>C (n.*155A>C) | |
| 16 | g.67942735G>A | CA496384201 | LCAT | c.459C>T (p.Val153=) c.155+126C>T c.243C>T (p.Val81=) c.102C>T (p.Val34=) n.73C>T n.237C>T c.*154C>T (n.*154C>T) | |
| 16 | g.67942735G>C | CA496384202 | LCAT | c.459C>G (p.Val153=) c.155+126C>G c.243C>G (p.Val81=) c.102C>G (p.Val34=) n.73C>G n.237C>G c.*154C>G (n.*154C>G) | |
| 16 | g.67942735G>T | CA496384203 | LCAT | c.459C>A (p.Val153=) c.155+126C>A c.243C>A (p.Val81=) c.102C>A (p.Val34=) n.73C>A n.237C>A c.*154C>A (n.*154C>A) | |
| 16 | g.67942736A= | CA2229564513 | LCAT | c.458T= (p.Val153=) c.155+125T= c.242T= (p.Val81=) c.101T= (p.Val34=) n.72T= n.236T= c.*153T= (n.*153T=) | |
| 16 | g.67942736A>C | CA396380310 | LCAT | c.458T>G (p.Val153Gly) c.155+125T>G c.242T>G (p.Val81Gly) c.101T>G (p.Val34Gly) n.72T>G n.236T>G c.*153T>G (n.*153T>G) | |
| 16 | g.67942736A>G | CA396380312 | LCAT | c.458T>C (p.Val153Ala) c.155+125T>C c.242T>C (p.Val81Ala) c.101T>C (p.Val34Ala) n.72T>C n.236T>C c.*153T>C (n.*153T>C) | dbSNP |
| 16 | g.67942736A>T | CA396380314 | LCAT | c.458T>A (p.Val153Asp) c.155+125T>A c.242T>A (p.Val81Asp) c.101T>A (p.Val34Asp) n.72T>A n.236T>A c.*153T>A (n.*153T>A) | |
| 16 | g.67942737C>A | CA396380318 | LCAT | c.457G>T (p.Val153Phe) c.155+124G>T c.241G>T (p.Val81Phe) c.100G>T (p.Val34Phe) n.71G>T n.235G>T c.*152G>T (n.*152G>T) | |
| 16 | g.67942737C>G | CA396380319 | LCAT | c.457G>C (p.Val153Leu) c.155+124G>C c.241G>C (p.Val81Leu) c.100G>C (p.Val34Leu) n.71G>C n.235G>C c.*152G>C (n.*152G>C) | |
| 16 | g.67942737C>T | CA396380320 | LCAT | c.457G>A (p.Val153Ile) c.155+124G>A c.241G>A (p.Val81Ile) c.100G>A (p.Val34Ile) n.71G>A n.235G>A c.*152G>A (n.*152G>A) | |
| 16 | g.67942738C>A | CA496384205 | LCAT | c.456G>T (p.Leu152=) c.155+123G>T c.240G>T (p.Leu80=) c.99G>T (p.Leu33=) n.70G>T n.234G>T c.*151G>T (n.*151G>T) | |
| 16 | g.67942738C= | CA2229564514 | LCAT | c.456G= (p.Leu152=) c.155+123G= c.240G= (p.Leu80=) c.99G= (p.Leu33=) n.70G= n.234G= c.*151G= (n.*151G=) | |
| 16 | g.67942738C>G | CA496384206 | LCAT | c.456G>C (p.Leu152=) c.155+123G>C c.240G>C (p.Leu80=) c.99G>C (p.Leu33=) n.70G>C n.234G>C c.*151G>C (n.*151G>C) | |
| 16 | g.67942738C>T | CA496384208 | LCAT | c.456G>A (p.Leu152=) c.155+123G>A c.240G>A (p.Leu80=) c.99G>A (p.Leu33=) n.70G>A n.234G>A c.*151G>A (n.*151G>A) | dbSNP gnomAD v4 |
| 16 | g.67942739A>C | CA396380325 | LCAT | c.455T>G (p.Leu152Arg) c.155+122T>G c.239T>G (p.Leu80Arg) c.98T>G (p.Leu33Arg) n.69T>G n.233T>G c.*150T>G (n.*150T>G) | |
| 16 | g.67942739A>G | CA396380321 | LCAT | c.455T>C (p.Leu152Pro) c.155+122T>C c.239T>C (p.Leu80Pro) c.98T>C (p.Leu33Pro) n.69T>C n.233T>C c.*150T>C (n.*150T>C) | |
| 16 | g.67942739A>T | CA396380323 | LCAT | c.455T>A (p.Leu152Gln) c.155+122T>A c.239T>A (p.Leu80Gln) c.98T>A (p.Leu33Gln) n.69T>A n.233T>A c.*150T>A (n.*150T>A) | |
| 16 | g.67942740G>A | CA496384210 | LCAT | c.454C>T (p.Leu152=) c.155+121C>T c.238C>T (p.Leu80=) c.97C>T (p.Leu33=) n.68C>T n.232C>T c.*149C>T (n.*149C>T) | gnomAD v4 |
| 16 | g.67942740G>C | CA396380327 | LCAT | c.454C>G (p.Leu152Val) c.155+121C>G c.238C>G (p.Leu80Val) c.97C>G (p.Leu33Val) n.68C>G n.232C>G c.*149C>G (n.*149C>G) | |
| 16 | g.67942740G>T | CA396380330 | LCAT | c.454C>A (p.Leu152Met) c.155+121C>A c.238C>A (p.Leu80Met) c.97C>A (p.Leu33Met) n.68C>A n.232C>A c.*149C>A (n.*149C>A) | |
| 16 | g.67942741G>A | CA496384211 | LCAT | c.453C>T (p.Asn151=) c.155+120C>T c.237C>T (p.Asn79=) c.96C>T (p.Asn32=) n.67C>T n.231C>T c.*148C>T (n.*148C>T) | |
| 16 | g.67942741G>C | CA396380332 | LCAT | c.453C>G (p.Asn151Lys) c.155+120C>G c.237C>G (p.Asn79Lys) c.96C>G (p.Asn32Lys) n.67C>G n.231C>G c.*148C>G (n.*148C>G) | |
| 16 | g.67942741G= | CA2229564515 | LCAT | c.453C= (p.Asn151=) c.155+120C= c.237C= (p.Asn79=) c.96C= (p.Asn32=) n.67C= n.231C= c.*148C= (n.*148C=) | |
| 16 | g.67942741G>T | CA8121072 | LCAT | c.453C>A (p.Asn151Lys) c.155+120C>A c.237C>A (p.Asn79Lys) c.96C>A (p.Asn32Lys) n.67C>A n.231C>A c.*148C>A (n.*148C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67942742T>A | CA396380337 | LCAT | c.452A>T (p.Asn151Ile) c.155+119A>T c.236A>T (p.Asn79Ile) c.95A>T (p.Asn32Ile) n.66A>T n.230A>T c.*147A>T (n.*147A>T) | |
| 16 | g.67942742T>C | CA396380338 | LCAT | c.452A>G (p.Asn151Ser) c.155+119A>G c.236A>G (p.Asn79Ser) c.95A>G (p.Asn32Ser) n.66A>G n.230A>G c.*147A>G (n.*147A>G) | |
| 16 | g.67942742T>G | CA396380340 | LCAT | c.452A>C (p.Asn151Thr) c.155+119A>C c.236A>C (p.Asn79Thr) c.95A>C (p.Asn32Thr) n.66A>C n.230A>C c.*147A>C (n.*147A>C) | |
| 16 | g.67942743T>A | CA396380346 | LCAT | c.451A>T (p.Asn151Tyr) c.155+118A>T c.235A>T (p.Asn79Tyr) c.94A>T (p.Asn32Tyr) n.65A>T n.229A>T c.*146A>T (n.*146A>T) | |
| 16 | g.67942743T>C | CA396380341 | LCAT | c.451A>G (p.Asn151Asp) c.155+118A>G c.235A>G (p.Asn79Asp) c.94A>G (p.Asn32Asp) n.65A>G n.229A>G c.*146A>G (n.*146A>G) | |
| 16 | g.67942743T>G | CA396380344 | LCAT | c.451A>C (p.Asn151His) c.155+118A>C c.235A>C (p.Asn79His) c.94A>C (p.Asn32His) n.65A>C n.229A>C c.*146A>C (n.*146A>C) | |
| 16 | g.67942744C>A | CA396380347 | LCAT | c.450G>T (p.Gln150His) c.155+117G>T c.234G>T (p.Gln78His) c.93G>T (p.Gln31His) n.64G>T n.228G>T c.*145G>T (n.*145G>T) | |
| 16 | g.67942744C>G | CA396380349 | LCAT | c.450G>C (p.Gln150His) c.155+117G>C c.234G>C (p.Gln78His) c.93G>C (p.Gln31His) n.64G>C n.228G>C c.*145G>C (n.*145G>C) | |
| 16 | g.67942744C>T | CA496384215 | LCAT | c.450G>A (p.Gln150=) c.155+117G>A c.234G>A (p.Gln78=) c.93G>A (p.Gln31=) n.64G>A n.228G>A c.*145G>A (n.*145G>A) | |
| 16 | g.67942745T>A | CA396380351 | LCAT | c.449A>T (p.Gln150Leu) c.155+116A>T c.233A>T (p.Gln78Leu) c.92A>T (p.Gln31Leu) n.63A>T n.227A>T c.*144A>T (n.*144A>T) | |
| 16 | g.67942745T>C | CA396380352 | LCAT | c.449A>G (p.Gln150Arg) c.155+116A>G c.233A>G (p.Gln78Arg) c.92A>G (p.Gln31Arg) n.63A>G n.227A>G c.*144A>G (n.*144A>G) | |
| 16 | g.67942745T>G | CA396380353 | LCAT | c.449A>C (p.Gln150Pro) c.155+116A>C c.233A>C (p.Gln78Pro) c.92A>C (p.Gln31Pro) n.63A>C n.227A>C c.*144A>C (n.*144A>C) |