UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67940385A>C | CA396376242 | LCAT | c.842T>G (p.Met281Arg) c.156-311T>G c.626T>G (p.Met209Arg) c.580T>G (n.580T>G) | |
| 16 | g.67940385A>G | CA396376243 | LCAT | c.842T>C (p.Met281Thr) c.156-311T>C c.626T>C (p.Met209Thr) c.580T>C (n.580T>C) | gnomAD v4 |
| 16 | g.67940385A>T | CA396376244 | LCAT | c.842T>A (p.Met281Lys) c.156-311T>A c.626T>A (p.Met209Lys) c.580T>A (n.580T>A) | |
| 16 | g.67940386T>A | CA396376246 | LCAT | c.841A>T (p.Met281Leu) c.156-312A>T c.625A>T (p.Met209Leu) c.579A>T (n.579A>T) | |
| 16 | g.67940386T>C | CA8120947 | LCAT | c.841A>G (p.Met281Val) c.156-312A>G c.625A>G (p.Met209Val) c.579A>G (n.579A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67940386T>G | CA396376245 | LCAT | c.841A>C (p.Met281Leu) c.156-312A>C c.625A>C (p.Met209Leu) c.579A>C (n.579A>C) | |
| 16 | g.67940386T= | CA2229563335 | LCAT | c.841A= (p.Met281=) c.156-312A= c.625A= (p.Met209=) c.579A= (n.579A=) | |
| 16 | g.67940387G>A | CA283160990 | LCAT | c.840C>T (p.Arg280=) c.156-313C>T c.624C>T (p.Arg208=) c.578C>T (n.578C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.67940387G>C | CA496384017 | LCAT | c.840C>G (p.Arg280=) c.156-313C>G c.624C>G (p.Arg208=) c.578C>G (n.578C>G) | |
| 16 | g.67940387G= | CA2229563336 | LCAT | c.840C= (p.Arg280=) c.156-313C= c.624C= (p.Arg208=) c.578C= (n.578C=) | |
| 16 | g.67940387G>T | CA496384018 | LCAT | c.840C>A (p.Arg280=) c.156-313C>A c.624C>A (p.Arg208=) c.578C>A (n.578C>A) | |
| 16 | g.67940388C>A | CA396376247 | LCAT | c.839G>T (p.Arg280Leu) c.156-314G>T c.623G>T (p.Arg208Leu) c.577G>T (n.577G>T) | |
| 16 | g.67940388C= | CA2229563337 | LCAT | c.839G= (p.Arg280=) c.156-314G= c.623G= (p.Arg208=) c.577G= (n.577G=) | |
| 16 | g.67940388C>G | CA396376248 | LCAT | c.839G>C (p.Arg280Pro) c.156-314G>C c.623G>C (p.Arg208Pro) c.577G>C (n.577G>C) | gnomAD v4 |
| 16 | g.67940388C>T | CA8120948 | LCAT | c.839G>A (p.Arg280His) c.156-314G>A c.623G>A (p.Arg208His) c.577G>A (n.577G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.67940389G>A | CA8120949 | LCAT | c.838C>T (p.Arg280Cys) c.156-315C>T c.622C>T (p.Arg208Cys) c.576C>T (n.576C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67940389G>C | CA396376249 | LCAT | c.838C>G (p.Arg280Gly) c.156-315C>G c.622C>G (p.Arg208Gly) c.576C>G (n.576C>G) | |
| 16 | g.67940389G= | CA2229563338 | LCAT | c.838C= (p.Arg280=) c.156-315C= c.622C= (p.Arg208=) c.576C= (n.576C=) | |
| 16 | g.67940389G>T | CA396376250 | LCAT | c.838C>A (p.Arg280Ser) c.156-315C>A c.622C>A (p.Arg208Ser) c.576C>A (n.576C>A) | |
| 16 | g.67940392_67940393del | CA2580612821 | LCAT | c.837_838del (p.Arg280HisfsTer5) c.156-316_156-315del c.621_622del (p.Arg208HisfsTer5) c.575_576del (n.575_576del) | ClinVar dbSNP |
| 16 | g.67940390A>C | CA496384019 | LCAT | c.837T>G (p.Ser279=) c.156-316T>G c.621T>G (p.Ser207=) c.575T>G (n.575T>G) | |
| 16 | g.67940390A>G | CA496384020 | LCAT | c.837T>C (p.Ser279=) c.156-316T>C c.621T>C (p.Ser207=) c.575T>C (n.575T>C) | |
| 16 | g.67940390A>T | CA496384022 | LCAT | c.837T>A (p.Ser279=) c.156-316T>A c.621T>A (p.Ser207=) c.575T>A (n.575T>A) | |
| 16 | g.67940391G>A | CA396376251 | LCAT | c.836C>T (p.Ser279Phe) c.156-317C>T c.620C>T (p.Ser207Phe) c.574C>T (n.574C>T) | |
| 16 | g.67940391G>C | CA396376252 | LCAT | c.836C>G (p.Ser279Cys) c.156-317C>G c.620C>G (p.Ser207Cys) c.574C>G (n.574C>G) | |
| 16 | g.67940391G>T | CA396376253 | LCAT | c.836C>A (p.Ser279Tyr) c.156-317C>A c.620C>A (p.Ser207Tyr) c.574C>A (n.574C>A) | |
| 16 | g.67940392A>C | CA396376254 | LCAT | c.835T>G (p.Ser279Ala) c.156-318T>G c.619T>G (p.Ser207Ala) c.573T>G (n.573T>G) | |
| 16 | g.67940392A>G | CA396376255 | LCAT | c.835T>C (p.Ser279Pro) c.156-318T>C c.619T>C (p.Ser207Pro) c.573T>C (n.573T>C) | |
| 16 | g.67940392A>T | CA396376256 | LCAT | c.835T>A (p.Ser279Thr) c.156-318T>A c.619T>A (p.Ser207Thr) c.573T>A (n.573T>A) | |
| 16 | g.67940393G>A | CA496384025 | LCAT | c.834C>T (p.Pro278=) c.156-319C>T c.618C>T (p.Pro206=) c.572C>T (n.572C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.67940393G>C | CA496384023 | LCAT | c.834C>G (p.Pro278=) c.156-319C>G c.618C>G (p.Pro206=) c.572C>G (n.572C>G) | gnomAD v4 |
| 16 | g.67940393G= | CA2229563339 | LCAT | c.834C= (p.Pro278=) c.156-319C= c.618C= (p.Pro206=) c.572C= (n.572C=) | |
| 16 | g.67940393G>T | CA496384024 | LCAT | c.834C>A (p.Pro278=) c.156-319C>A c.618C>A (p.Pro206=) c.572C>A (n.572C>A) | |
| 16 | g.67940394G>A | CA396376259 | LCAT | c.833C>T (p.Pro278Leu) c.156-320C>T c.617C>T (p.Pro206Leu) c.571C>T (n.571C>T) | |
| 16 | g.67940394G>C | CA396376258 | LCAT | c.833C>G (p.Pro278Arg) c.156-320C>G c.617C>G (p.Pro206Arg) c.571C>G (n.571C>G) | |
| 16 | g.67940394G>T | CA396376257 | LCAT | c.833C>A (p.Pro278His) c.156-320C>A c.617C>A (p.Pro206His) c.571C>A (n.571C>A) | |
| 16 | g.67940395G>A | CA396376260 | LCAT | c.832C>T (p.Pro278Ser) c.156-321C>T c.616C>T (p.Pro206Ser) c.570C>T (n.570C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.67940395G>C | CA396376261 | LCAT | c.832C>G (p.Pro278Ala) c.156-321C>G c.616C>G (p.Pro206Ala) c.570C>G (n.570C>G) | |
| 16 | g.67940395G= | CA2229563340 | LCAT | c.832C= (p.Pro278=) c.156-321C= c.616C= (p.Pro206=) c.570C= (n.570C=) | |
| 16 | g.67940395G>T | CA396376262 | LCAT | c.832C>A (p.Pro278Thr) c.156-321C>A c.616C>A (p.Pro206Thr) c.570C>A (n.570C>A) | |
| 16 | g.67940396A>C | CA396376263 | LCAT | c.831T>G (p.Phe277Leu) c.156-322T>G c.615T>G (p.Phe205Leu) c.569T>G (n.569T>G) | |
| 16 | g.67940396A>G | CA496384027 | LCAT | c.831T>C (p.Phe277=) c.156-322T>C c.615T>C (p.Phe205=) c.569T>C (n.569T>C) | gnomAD v4 |
| 16 | g.67940396A>T | CA396376264 | LCAT | c.831T>A (p.Phe277Leu) c.156-322T>A c.615T>A (p.Phe205Leu) c.569T>A (n.569T>A) | |
| 16 | g.67940397A>C | CA396376267 | LCAT | c.830T>G (p.Phe277Cys) c.156-323T>G c.614T>G (p.Phe205Cys) c.568T>G (n.568T>G) | |
| 16 | g.67940397A>G | CA396376266 | LCAT | c.830T>C (p.Phe277Ser) c.156-323T>C c.614T>C (p.Phe205Ser) c.568T>C (n.568T>C) | |
| 16 | g.67940397A>T | CA396376265 | LCAT | c.830T>A (p.Phe277Tyr) c.156-323T>A c.614T>A (p.Phe205Tyr) c.568T>A (n.568T>A) | |
| 16 | g.67940398A>C | CA396376268 | LCAT | c.829T>G (p.Phe277Val) c.156-324T>G c.613T>G (p.Phe205Val) c.567T>G (n.567T>G) | |
| 16 | g.67940398A>G | CA396376269 | LCAT | c.829T>C (p.Phe277Leu) c.156-324T>C c.613T>C (p.Phe205Leu) c.567T>C (n.567T>C) | |
| 16 | g.67940398A>T | CA396376270 | LCAT | c.829T>A (p.Phe277Ile) c.156-324T>A c.613T>A (p.Phe205Ile) c.567T>A (n.567T>A) | |
| 16 | g.67940399_67940400dup | CA2554837458 | LCAT | c.828_829dup (p.Phe277CysfsTer?) c.156-325_156-324dup c.612_613dup (p.Phe205CysfsTer?) c.566_567dup (n.566_567dup) |