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 |
|---|---|---|---|---|---|
| 1 | g.94041332A= | CA1145364808 | ABCA4 | c.3399T= (p.Ile1133=) c.-64-1243T= (n.-64-1243T=) | |
| 1 | g.94041332A>C | CA341291013 | ABCA4 | c.3399T>G (p.Ile1133Met) c.-64-1243T>G (n.-64-1243T>G) | |
| 1 | g.94041332A>G | CA26863696 | ABCA4 | c.3399T>C (p.Ile1133=) c.-64-1243T>C (n.-64-1243T>C) | dbSNP |
| 1 | g.94041332A>T | CA418826326 | ABCA4 | c.3399T>A (p.Ile1133=) c.-64-1243T>A (n.-64-1243T>A) | |
| 1 | g.94041333A= | CA1181420052 | ABCA4 | c.3398T= (p.Ile1133=) c.-64-1244T= (n.-64-1244T=) | |
| 1 | g.94041333A>C | CA341291016 | ABCA4 | c.3398T>G (p.Ile1133Ser) c.-64-1244T>G (n.-64-1244T>G) | |
| 1 | g.94041333A>G | CA341291026 | ABCA4 | c.3398T>C (p.Ile1133Thr) c.-64-1244T>C (n.-64-1244T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041333A>T | CA341291028 | ABCA4 | c.3398T>A (p.Ile1133Asn) c.-64-1244T>A (n.-64-1244T>A) | |
| 1 | g.94041334T>A | CA341291031 | ABCA4 | c.3397A>T (p.Ile1133Phe) c.-64-1245A>T (n.-64-1245A>T) | |
| 1 | g.94041334T>C | CA341291034 | ABCA4 | c.3397A>G (p.Ile1133Val) c.-64-1245A>G (n.-64-1245A>G) | |
| 1 | g.94041334T>G | CA341291036 | ABCA4 | c.3397A>C (p.Ile1133Leu) c.-64-1245A>C (n.-64-1245A>C) | |
| 1 | g.94041335G>A | CA418826327 | ABCA4 | c.3396C>T (p.Ile1132=) c.-64-1246C>T (n.-64-1246C>T) | |
| 1 | g.94041335G>C | CA341291037 | ABCA4 | c.3396C>G (p.Ile1132Met) c.-64-1246C>G (n.-64-1246C>G) | |
| 1 | g.94041335G>T | CA418826328 | ABCA4 | c.3396C>A (p.Ile1132=) c.-64-1246C>A (n.-64-1246C>A) | |
| 1 | g.94041336A>C | CA341291040 | ABCA4 | c.3395T>G (p.Ile1132Ser) c.-64-1247T>G (n.-64-1247T>G) | |
| 1 | g.94041336A>G | CA341291045 | ABCA4 | c.3395T>C (p.Ile1132Thr) c.-64-1247T>C (n.-64-1247T>C) | ClinVar |
| 1 | g.94041336A>T | CA341291047 | ABCA4 | c.3395T>A (p.Ile1132Asn) c.-64-1247T>A (n.-64-1247T>A) | |
| 1 | g.94041337T>A | CA341291052 | ABCA4 | c.3394A>T (p.Ile1132Phe) c.-64-1248A>T (n.-64-1248A>T) | |
| 1 | g.94041337T>C | CA341291054 | ABCA4 | c.3394A>G (p.Ile1132Val) c.-64-1248A>G (n.-64-1248A>G) | |
| 1 | g.94041337T>G | CA341291057 | ABCA4 | c.3394A>C (p.Ile1132Leu) c.-64-1248A>C (n.-64-1248A>C) | |
| 1 | g.94041337_94041338delinsTG | CA1181420053 | ABCA4 | c.3393_3394delinsCA (p.Ala1131=) c.-64-1249_-64-1248delinsCA (n.-64-1249_-64-1248delinsCA) | |
| 1 | g.94041338G>A | CA418826329 | ABCA4 | c.3393C>T (p.Ala1131=) c.-64-1249C>T (n.-64-1249C>T) | |
| 1 | g.94041338G>C | CA418826330 | ABCA4 | c.3393C>G (p.Ala1131=) c.-64-1249C>G (n.-64-1249C>G) | |
| 1 | g.94041338G>T | CA418826331 | ABCA4 | c.3393C>A (p.Ala1131=) c.-64-1249C>A (n.-64-1249C>A) | |
| 1 | g.94041338_94041339delinsC | CA645372188 | ABCA4 | c.3392_3393delinsG (p.Ala1131GlyfsTer17) c.-64-1250_-64-1249delinsG (n.-64-1250_-64-1249delinsG) | ClinVar |
| 1 | g.94041338_94041339delinsGG | CA1140725844 | ABCA4 | c.3392_3393delinsCC (p.Ala1131=) c.-64-1250_-64-1249delinsCC (n.-64-1250_-64-1249delinsCC) | |
| 1 | g.94041339del | CA227117 | ABCA4 | c.3393del (p.Ile1132SerfsTer16) c.-64-1249del (n.-64-1249del) | ClinVar dbSNP |
| 1 | g.94041339G>A | CA341291068 | ABCA4 | c.3392C>T (p.Ala1131Val) c.-64-1250C>T (n.-64-1250C>T) | dbSNP gnomAD v4 |
| 1 | g.94041339G>C | CA341291063 | ABCA4 | c.3392C>G (p.Ala1131Gly) c.-64-1250C>G (n.-64-1250C>G) | |
| 1 | g.94041339G= | CA1181420054 | ABCA4 | c.3392C= (p.Ala1131=) c.-64-1250C= (n.-64-1250C=) | |
| 1 | g.94041339G>T | CA341291066 | ABCA4 | c.3392C>A (p.Ala1131Asp) c.-64-1250C>A (n.-64-1250C>A) | |
| 1 | g.94041340C>A | CA341291077 | ABCA4 | c.3391G>T (p.Ala1131Ser) c.-64-1251G>T (n.-64-1251G>T) | |
| 1 | g.94041340C>G | CA341291072 | ABCA4 | c.3391G>C (p.Ala1131Pro) c.-64-1251G>C (n.-64-1251G>C) | |
| 1 | g.94041340C>T | CA341291074 | ABCA4 | c.3391G>A (p.Ala1131Thr) c.-64-1251G>A (n.-64-1251G>A) | |
| 1 | g.94041341A>C | CA341291078 | ABCA4 | c.3390T>G (p.Ile1130Met) c.-64-1252T>G (n.-64-1252T>G) | |
| 1 | g.94041341A>G | CA418826332 | ABCA4 | c.3390T>C (p.Ile1130=) c.-64-1252T>C (n.-64-1252T>C) | |
| 1 | g.94041341A>T | CA418826333 | ABCA4 | c.3390T>A (p.Ile1130=) c.-64-1252T>A (n.-64-1252T>A) | gnomAD v4 |
| 1 | g.94041342A= | CA1181420055 | ABCA4 | c.3389T= (p.Ile1130=) c.-64-1253T= (n.-64-1253T=) | |
| 1 | g.94041342A>C | CA341291080 | ABCA4 | c.3389T>G (p.Ile1130Ser) c.-64-1253T>G (n.-64-1253T>G) | |
| 1 | g.94041342A>G | CA16617206 | ABCA4 | c.3389T>C (p.Ile1130Thr) c.-64-1253T>C (n.-64-1253T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041342A>T | CA341291083 | ABCA4 | c.3389T>A (p.Ile1130Asn) c.-64-1253T>A (n.-64-1253T>A) | |
| 1 | g.94041343T>A | CA341291084 | ABCA4 | c.3388A>T (p.Ile1130Phe) c.-64-1254A>T (n.-64-1254A>T) | |
| 1 | g.94041343T>C | CA341291086 | ABCA4 | c.3388A>G (p.Ile1130Val) c.-64-1254A>G (n.-64-1254A>G) | |
| 1 | g.94041343T>G | CA341291088 | ABCA4 | c.3388A>C (p.Ile1130Leu) c.-64-1254A>C (n.-64-1254A>C) | gnomAD v4 |
| 1 | g.94041344G>A | CA418826334 | ABCA4 | c.3387C>T (p.Arg1129=) c.-64-1255C>T (n.-64-1255C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041344G>C | CA418826335 | ABCA4 | c.3387C>G (p.Arg1129=) c.-64-1255C>G (n.-64-1255C>G) | |
| 1 | g.94041344G= | CA1181420056 | ABCA4 | c.3387C= (p.Arg1129=) c.-64-1255C= (n.-64-1255C=) | |
| 1 | g.94041344G>T | CA418826336 | ABCA4 | c.3387C>A (p.Arg1129=) c.-64-1255C>A (n.-64-1255C>A) | |
| 1 | g.94041345C>A | CA227116 | ABCA4 | c.3386G>T (p.Arg1129Leu) c.-64-1256G>T (n.-64-1256G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041345C= | CA1139894808 | ABCA4 | c.3386G= (p.Arg1129=) c.-64-1256G= (n.-64-1256G=) |