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 |
|---|---|---|---|---|---|
| 4 | g.99583424C>A | CA357502148 | MTTP | c.300C>A (p.Ser100Arg) c.51C>A (p.Ser17Arg) c.330C>A (p.Ser110Arg) c.381C>A (p.Ser127Arg) c.*363C>A (n.*363C>A) | |
| 4 | g.99583424C>G | CA357502150 | MTTP | c.300C>G (p.Ser100Arg) c.51C>G (p.Ser17Arg) c.330C>G (p.Ser110Arg) c.381C>G (p.Ser127Arg) c.*363C>G (n.*363C>G) | |
| 4 | g.99583424C>T | CA440328606 | MTTP | c.300C>T (p.Ser100=) c.51C>T (p.Ser17=) c.330C>T (p.Ser110=) c.381C>T (p.Ser127=) c.*363C>T (n.*363C>T) | |
| 4 | g.99583425A>C | CA357502151 | MTTP | c.301A>C (p.Ile101Leu) c.52A>C (p.Ile18Leu) c.331A>C (p.Ile111Leu) c.382A>C (p.Ile128Leu) c.*364A>C (n.*364A>C) | |
| 4 | g.99583425A>G | CA357502153 | MTTP | c.301A>G (p.Ile101Val) c.52A>G (p.Ile18Val) c.331A>G (p.Ile111Val) c.382A>G (p.Ile128Val) c.*364A>G (n.*364A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583425A>T | CA357502154 | MTTP | c.301A>T (p.Ile101Phe) c.52A>T (p.Ile18Phe) c.331A>T (p.Ile111Phe) c.382A>T (p.Ile128Phe) c.*364A>T (n.*364A>T) | |
| 4 | g.99583426T>A | CA357502161 | MTTP | c.302T>A (p.Ile101Asn) c.53T>A (p.Ile18Asn) c.332T>A (p.Ile111Asn) c.383T>A (p.Ile128Asn) c.*365T>A (n.*365T>A) | |
| 4 | g.99583426T>C | CA357502157 | MTTP | c.302T>C (p.Ile101Thr) c.53T>C (p.Ile18Thr) c.332T>C (p.Ile111Thr) c.383T>C (p.Ile128Thr) c.*365T>C (n.*365T>C) | |
| 4 | g.99583426T>G | CA357502159 | MTTP | c.302T>G (p.Ile101Ser) c.53T>G (p.Ile18Ser) c.332T>G (p.Ile111Ser) c.383T>G (p.Ile128Ser) c.*365T>G (n.*365T>G) | |
| 4 | g.99583427C>A | CA440328607 | MTTP | c.303C>A (p.Ile101=) c.54C>A (p.Ile18=) c.333C>A (p.Ile111=) c.384C>A (p.Ile128=) c.*366C>A (n.*366C>A) | COSMIC |
| 4 | g.99583427C= | CA1480066711 | MTTP | c.303C= (p.Ile101=) c.54C= (p.Ile18=) c.333C= (p.Ile111=) c.384C= (p.Ile128=) c.*366C= (n.*366C=) | |
| 4 | g.99583427C>G | CA357502163 | MTTP | c.303C>G (p.Ile101Met) c.54C>G (p.Ile18Met) c.333C>G (p.Ile111Met) c.384C>G (p.Ile128Met) c.*366C>G (n.*366C>G) | |
| 4 | g.99583427C>T | CA3021800 | MTTP | c.303C>T (p.Ile101=) c.54C>T (p.Ile18=) c.333C>T (p.Ile111=) c.384C>T (p.Ile128=) c.*366C>T (n.*366C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583428T>A | CA357502165 | MTTP | c.304T>A (p.Phe102Ile) c.55T>A (p.Phe19Ile) c.334T>A (p.Phe112Ile) c.385T>A (p.Phe129Ile) c.*367T>A (n.*367T>A) | |
| 4 | g.99583428T>C | CA357502167 | MTTP | c.304T>C (p.Phe102Leu) c.55T>C (p.Phe19Leu) c.334T>C (p.Phe112Leu) c.385T>C (p.Phe129Leu) c.*367T>C (n.*367T>C) | |
| 4 | g.99583428T>G | CA357502169 | MTTP | c.304T>G (p.Phe102Val) c.55T>G (p.Phe19Val) c.334T>G (p.Phe112Val) c.385T>G (p.Phe129Val) c.*367T>G (n.*367T>G) | COSMIC |
| 4 | g.99583429T>A | CA357502171 | MTTP | c.305T>A (p.Phe102Tyr) c.56T>A (p.Phe19Tyr) c.335T>A (p.Phe112Tyr) c.386T>A (p.Phe129Tyr) c.*368T>A (n.*368T>A) | |
| 4 | g.99583429T>C | CA357502173 | MTTP | c.305T>C (p.Phe102Ser) c.56T>C (p.Phe19Ser) c.335T>C (p.Phe112Ser) c.386T>C (p.Phe129Ser) c.*368T>C (n.*368T>C) | |
| 4 | g.99583429T>G | CA357502175 | MTTP | c.305T>G (p.Phe102Cys) c.56T>G (p.Phe19Cys) c.335T>G (p.Phe112Cys) c.386T>G (p.Phe129Cys) c.*368T>G (n.*368T>G) | |
| 4 | g.99583430C>A | CA357502176 | MTTP | c.306C>A (p.Phe102Leu) c.57C>A (p.Phe19Leu) c.336C>A (p.Phe112Leu) c.387C>A (p.Phe129Leu) c.*369C>A (n.*369C>A) | |
| 4 | g.99583430C>G | CA357502178 | MTTP | c.306C>G (p.Phe102Leu) c.57C>G (p.Phe19Leu) c.336C>G (p.Phe112Leu) c.387C>G (p.Phe129Leu) c.*369C>G (n.*369C>G) | |
| 4 | g.99583430C>T | CA440328608 | MTTP | c.306C>T (p.Phe102=) c.57C>T (p.Phe19=) c.336C>T (p.Phe112=) c.387C>T (p.Phe129=) c.*369C>T (n.*369C>T) | |
| 4 | g.99583431A= | CA1480066716 | MTTP | c.307A= (p.Lys103=) c.58A= (p.Lys20=) c.337A= (p.Lys113=) c.388A= (p.Lys130=) c.*370A= (n.*370A=) | |
| 4 | g.99583431A>C | CA357502180 | MTTP | c.307A>C (p.Lys103Gln) c.58A>C (p.Lys20Gln) c.337A>C (p.Lys113Gln) c.388A>C (p.Lys130Gln) c.*370A>C (n.*370A>C) | |
| 4 | g.99583431A>G | CA357502182 | MTTP | c.307A>G (p.Lys103Glu) c.58A>G (p.Lys20Glu) c.337A>G (p.Lys113Glu) c.388A>G (p.Lys130Glu) c.*370A>G (n.*370A>G) | |
| 4 | g.99583431A>T | CA357502184 | MTTP | c.307A>T (p.Lys103Ter) c.58A>T (p.Lys20Ter) c.337A>T (p.Lys113Ter) c.388A>T (p.Lys130Ter) c.*370A>T (n.*370A>T) | ClinVar dbSNP |
| 4 | g.99583432A>C | CA357502187 | MTTP | c.308A>C (p.Lys103Thr) c.59A>C (p.Lys20Thr) c.338A>C (p.Lys113Thr) c.389A>C (p.Lys130Thr) c.*371A>C (n.*371A>C) | |
| 4 | g.99583432A>G | CA357502188 | MTTP | c.308A>G (p.Lys103Arg) c.59A>G (p.Lys20Arg) c.338A>G (p.Lys113Arg) c.389A>G (p.Lys130Arg) c.*371A>G (n.*371A>G) | gnomAD v4 |
| 4 | g.99583432A>T | CA357502186 | MTTP | c.308A>T (p.Lys103Ile) c.59A>T (p.Lys20Ile) c.338A>T (p.Lys113Ile) c.389A>T (p.Lys130Ile) c.*371A>T (n.*371A>T) | |
| 4 | g.99583433A>C | CA357502192 | MTTP | c.309A>C (p.Lys103Asn) c.60A>C (p.Lys20Asn) c.339A>C (p.Lys113Asn) c.390A>C (p.Lys130Asn) c.*372A>C (n.*372A>C) | |
| 4 | g.99583433A>G | CA440328609 | MTTP | c.309A>G (p.Lys103=) c.60A>G (p.Lys20=) c.339A>G (p.Lys113=) c.390A>G (p.Lys130=) c.*372A>G (n.*372A>G) | |
| 4 | g.99583433A>T | CA357502190 | MTTP | c.309A>T (p.Lys103Asn) c.60A>T (p.Lys20Asn) c.339A>T (p.Lys113Asn) c.390A>T (p.Lys130Asn) c.*372A>T (n.*372A>T) | |
| 4 | g.99583433_99583434delinsAG | CA1480066722 | MTTP | c.309_310delinsAG (p.Lys103=) c.60_61delinsAG (p.Lys20=) c.339_340delinsAG (p.Lys113=) c.390_391delinsAG (p.Lys130=) c.*372_*373delinsAG (n.*372_*373delinsAG) | |
| 4 | g.99583434G>A | CA357502195 | MTTP | c.310G>A (p.Gly104Arg) c.61G>A (p.Gly21Arg) c.340G>A (p.Gly114Arg) c.391G>A (p.Gly131Arg) c.*373G>A (n.*373G>A) | |
| 4 | g.99583434G>C | CA3021801 | MTTP | c.310G>C (p.Gly104Arg) c.61G>C (p.Gly21Arg) c.340G>C (p.Gly114Arg) c.391G>C (p.Gly131Arg) c.*373G>C (n.*373G>C) | dbSNP ExAC gnomAD v2 |
| 4 | g.99583434G= | CA1480066725 | MTTP | c.310G= (p.Gly104=) c.61G= (p.Gly21=) c.340G= (p.Gly114=) c.391G= (p.Gly131=) c.*373G= (n.*373G=) | |
| 4 | g.99583434G>T | CA357502198 | MTTP | c.310G>T (p.Gly104Ter) c.61G>T (p.Gly21Ter) c.340G>T (p.Gly114Ter) c.391G>T (p.Gly131Ter) c.*373G>T (n.*373G>T) | |
| 4 | g.99583435del | CA553568446 | MTTP | c.311del (p.Gly104GlufsTer7) c.62del (p.Gly21GlufsTer7) c.341del (p.Gly114GlufsTer7) c.392del (p.Gly131GlufsTer7) c.*374del (n.*374del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583435G>A | CA357502199 | MTTP | c.311G>A (p.Gly104Glu) c.62G>A (p.Gly21Glu) c.341G>A (p.Gly114Glu) c.392G>A (p.Gly131Glu) c.*374G>A (n.*374G>A) | COSMIC |
| 4 | g.99583435G>C | CA357502202 | MTTP | c.311G>C (p.Gly104Ala) c.62G>C (p.Gly21Ala) c.341G>C (p.Gly114Ala) c.392G>C (p.Gly131Ala) c.*374G>C (n.*374G>C) | |
| 4 | g.99583435G>T | CA357502201 | MTTP | c.311G>T (p.Gly104Val) c.62G>T (p.Gly21Val) c.341G>T (p.Gly114Val) c.392G>T (p.Gly131Val) c.*374G>T (n.*374G>T) | |
| 4 | g.99583436A>C | CA440328610 | MTTP | c.312A>C (p.Gly104=) c.63A>C (p.Gly21=) c.342A>C (p.Gly114=) c.393A>C (p.Gly131=) c.*375A>C (n.*375A>C) | |
| 4 | g.99583436A>G | CA440328612 | MTTP | c.312A>G (p.Gly104=) c.63A>G (p.Gly21=) c.342A>G (p.Gly114=) c.393A>G (p.Gly131=) c.*375A>G (n.*375A>G) | gnomAD v4 |
| 4 | g.99583436A>T | CA440328611 | MTTP | c.312A>T (p.Gly104=) c.63A>T (p.Gly21=) c.342A>T (p.Gly114=) c.393A>T (p.Gly131=) c.*375A>T (n.*375A>T) | |
| 4 | g.99583440dup | CA2580071897 | MTTP | c.316dup (p.Ser106LysfsTer4) c.67dup (p.Ser23LysfsTer4) c.346dup (p.Ser116LysfsTer4) c.397dup (p.Ser133LysfsTer4) c.*379dup (n.*379dup) | ClinVar |
| 4 | g.99583440del | CA2507939707 | MTTP | c.316del (p.Ser106AlafsTer5) c.67del (p.Ser23AlafsTer5) c.346del (p.Ser116AlafsTer5) c.397del (p.Ser133AlafsTer5) c.*379del (n.*379del) | |
| 4 | g.99583437A>C | CA357502204 | MTTP | c.313A>C (p.Lys105Gln) c.64A>C (p.Lys22Gln) c.343A>C (p.Lys115Gln) c.394A>C (p.Lys132Gln) c.*376A>C (n.*376A>C) | |
| 4 | g.99583437A>G | CA357502207 | MTTP | c.313A>G (p.Lys105Glu) c.64A>G (p.Lys22Glu) c.343A>G (p.Lys115Glu) c.394A>G (p.Lys132Glu) c.*376A>G (n.*376A>G) | |
| 4 | g.99583437A>T | CA357502205 | MTTP | c.313A>T (p.Lys105Ter) c.64A>T (p.Lys22Ter) c.343A>T (p.Lys115Ter) c.394A>T (p.Lys132Ter) c.*376A>T (n.*376A>T) | |
| 4 | g.99583438A>C | CA357502209 | MTTP | c.314A>C (p.Lys105Thr) c.65A>C (p.Lys22Thr) c.344A>C (p.Lys115Thr) c.395A>C (p.Lys132Thr) c.*377A>C (n.*377A>C) |