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.8355561dup | CA1152318883 | RERE | c.2868dup (p.Met957HisfsTer?) c.4530dup (p.Met1511HisfsTer?) c.3726dup (p.Met1243HisfsTer?) c.1584dup (p.Met529HisfsTer?) c.498dup (p.Met167HisfsTer?) c.4404dup (p.Met1469HisfsTer?) | dbSNP gnomAD v4 |
| 1 | g.8355561del | CA2643072837 | RERE | c.2868del (p.Met957CysfsTer?) c.4530del (p.Met1511CysfsTer?) c.3726del (p.Met1243CysfsTer?) c.1584del (p.Met529CysfsTer?) c.498del (p.Met167CysfsTer?) c.4404del (p.Met1469CysfsTer?) | gnomAD v4 |
| 1 | g.8355557G>A | CA338168288 | RERE | c.2867C>T (p.Pro956Leu) c.4529C>T (p.Pro1510Leu) c.3725C>T (p.Pro1242Leu) c.1583C>T (p.Pro528Leu) c.497C>T (p.Pro166Leu) c.4403C>T (p.Pro1468Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.8355557G>C | CA338168290 | RERE | c.2867C>G (p.Pro956Arg) c.4529C>G (p.Pro1510Arg) c.3725C>G (p.Pro1242Arg) c.1583C>G (p.Pro528Arg) c.497C>G (p.Pro166Arg) c.4403C>G (p.Pro1468Arg) | gnomAD v4 |
| 1 | g.8355557G= | CA1152318885 | RERE | c.2867C= (p.Pro956=) c.4529C= (p.Pro1510=) c.3725C= (p.Pro1242=) c.1583C= (p.Pro528=) c.497C= (p.Pro166=) c.4403C= (p.Pro1468=) | |
| 1 | g.8355557G>T | CA338168289 | RERE | c.2867C>A (p.Pro956His) c.4529C>A (p.Pro1510His) c.3725C>A (p.Pro1242His) c.1583C>A (p.Pro528His) c.497C>A (p.Pro166His) c.4403C>A (p.Pro1468His) | gnomAD v4 |
| 1 | g.8355558G>A | CA338168291 | RERE | c.2866C>T (p.Pro956Ser) c.4528C>T (p.Pro1510Ser) c.3724C>T (p.Pro1242Ser) c.1582C>T (p.Pro528Ser) c.496C>T (p.Pro166Ser) c.4402C>T (p.Pro1468Ser) | gnomAD v4 |
| 1 | g.8355558G>C | CA570750 | RERE | c.2866C>G (p.Pro956Ala) c.4528C>G (p.Pro1510Ala) c.3724C>G (p.Pro1242Ala) c.1582C>G (p.Pro528Ala) c.496C>G (p.Pro166Ala) c.4402C>G (p.Pro1468Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355558G= | CA1141494607 | RERE | c.2866C= (p.Pro956=) c.4528C= (p.Pro1510=) c.3724C= (p.Pro1242=) c.1582C= (p.Pro528=) c.496C= (p.Pro166=) c.4402C= (p.Pro1468=) | |
| 1 | g.8355558G>T | CA570749 | RERE | c.2866C>A (p.Pro956Thr) c.4528C>A (p.Pro1510Thr) c.3724C>A (p.Pro1242Thr) c.1582C>A (p.Pro528Thr) c.496C>A (p.Pro166Thr) c.4402C>A (p.Pro1468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355559G>A | CA415842083 | RERE | c.2865C>T (p.Pro955=) c.4527C>T (p.Pro1509=) c.3723C>T (p.Pro1241=) c.1581C>T (p.Pro527=) c.495C>T (p.Pro165=) c.4401C>T (p.Pro1467=) | dbSNP |
| 1 | g.8355559G>C | CA415842084 | RERE | c.2865C>G (p.Pro955=) c.4527C>G (p.Pro1509=) c.3723C>G (p.Pro1241=) c.1581C>G (p.Pro527=) c.495C>G (p.Pro165=) c.4401C>G (p.Pro1467=) | gnomAD v4 |
| 1 | g.8355559G= | CA1152318886 | RERE | c.2865C= (p.Pro955=) c.4527C= (p.Pro1509=) c.3723C= (p.Pro1241=) c.1581C= (p.Pro527=) c.495C= (p.Pro165=) c.4401C= (p.Pro1467=) | |
| 1 | g.8355559G>T | CA415842085 | RERE | c.2865C>A (p.Pro955=) c.4527C>A (p.Pro1509=) c.3723C>A (p.Pro1241=) c.1581C>A (p.Pro527=) c.495C>A (p.Pro165=) c.4401C>A (p.Pro1467=) | |
| 1 | g.8355560G>A | CA338168292 | RERE | c.2864C>T (p.Pro955Leu) c.4526C>T (p.Pro1509Leu) c.3722C>T (p.Pro1241Leu) c.1580C>T (p.Pro527Leu) c.494C>T (p.Pro165Leu) c.4400C>T (p.Pro1467Leu) | gnomAD v4 |
| 1 | g.8355560G>C | CA338168293 | RERE | c.2864C>G (p.Pro955Arg) c.4526C>G (p.Pro1509Arg) c.3722C>G (p.Pro1241Arg) c.1580C>G (p.Pro527Arg) c.494C>G (p.Pro165Arg) c.4400C>G (p.Pro1467Arg) | |
| 1 | g.8355560G>T | CA338168294 | RERE | c.2864C>A (p.Pro955His) c.4526C>A (p.Pro1509His) c.3722C>A (p.Pro1241His) c.1580C>A (p.Pro527His) c.494C>A (p.Pro165His) c.4400C>A (p.Pro1467His) | |
| 1 | g.8355561G>A | CA338168295 | RERE | c.2863C>T (p.Pro955Ser) c.4525C>T (p.Pro1509Ser) c.3721C>T (p.Pro1241Ser) c.1579C>T (p.Pro527Ser) c.493C>T (p.Pro165Ser) c.4399C>T (p.Pro1467Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355561G>C | CA338168296 | RERE | c.2863C>G (p.Pro955Ala) c.4525C>G (p.Pro1509Ala) c.3721C>G (p.Pro1241Ala) c.1579C>G (p.Pro527Ala) c.493C>G (p.Pro165Ala) c.4399C>G (p.Pro1467Ala) | |
| 1 | g.8355561G= | CA1152318887 | RERE | c.2863C= (p.Pro955=) c.4525C= (p.Pro1509=) c.3721C= (p.Pro1241=) c.1579C= (p.Pro527=) c.493C= (p.Pro165=) c.4399C= (p.Pro1467=) | |
| 1 | g.8355561G>T | CA338168297 | RERE | c.2863C>A (p.Pro955Thr) c.4525C>A (p.Pro1509Thr) c.3721C>A (p.Pro1241Thr) c.1579C>A (p.Pro527Thr) c.493C>A (p.Pro165Thr) c.4399C>A (p.Pro1467Thr) | gnomAD v4 |
| 1 | g.8355562T>A | CA415842086 | RERE | c.2862A>T (p.Pro954=) c.4524A>T (p.Pro1508=) c.3720A>T (p.Pro1240=) c.1578A>T (p.Pro526=) c.492A>T (p.Pro164=) c.4398A>T (p.Pro1466=) | |
| 1 | g.8355562T>C | CA415842088 | RERE | c.2862A>G (p.Pro954=) c.4524A>G (p.Pro1508=) c.3720A>G (p.Pro1240=) c.1578A>G (p.Pro526=) c.492A>G (p.Pro164=) c.4398A>G (p.Pro1466=) | |
| 1 | g.8355562T>G | CA415842087 | RERE | c.2862A>C (p.Pro954=) c.4524A>C (p.Pro1508=) c.3720A>C (p.Pro1240=) c.1578A>C (p.Pro526=) c.492A>C (p.Pro164=) c.4398A>C (p.Pro1466=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355562T= | CA1152318888 | RERE | c.2862A= (p.Pro954=) c.4524A= (p.Pro1508=) c.3720A= (p.Pro1240=) c.1578A= (p.Pro526=) c.492A= (p.Pro164=) c.4398A= (p.Pro1466=) | |
| 1 | g.8355563G>A | CA338168298 | RERE | c.2861C>T (p.Pro954Leu) c.4523C>T (p.Pro1508Leu) c.3719C>T (p.Pro1240Leu) c.1577C>T (p.Pro526Leu) c.491C>T (p.Pro164Leu) c.4397C>T (p.Pro1466Leu) | |
| 1 | g.8355563G>C | CA338168299 | RERE | c.2861C>G (p.Pro954Arg) c.4523C>G (p.Pro1508Arg) c.3719C>G (p.Pro1240Arg) c.1577C>G (p.Pro526Arg) c.491C>G (p.Pro164Arg) c.4397C>G (p.Pro1466Arg) | |
| 1 | g.8355563G>T | CA338168300 | RERE | c.2861C>A (p.Pro954Gln) c.4523C>A (p.Pro1508Gln) c.3719C>A (p.Pro1240Gln) c.1577C>A (p.Pro526Gln) c.491C>A (p.Pro164Gln) c.4397C>A (p.Pro1466Gln) | |
| 1 | g.8355565del | CA2643072838 | RERE | c.2861del (p.Pro954HisfsTer?) c.4523del (p.Pro1508HisfsTer?) c.3719del (p.Pro1240HisfsTer?) c.1577del (p.Pro526HisfsTer?) c.491del (p.Pro164HisfsTer?) c.4397del (p.Pro1466HisfsTer?) | gnomAD v4 |
| 1 | g.8355564G>A | CA338168303 | RERE | c.2860C>T (p.Pro954Ser) c.4522C>T (p.Pro1508Ser) c.3718C>T (p.Pro1240Ser) c.1576C>T (p.Pro526Ser) c.490C>T (p.Pro164Ser) c.4396C>T (p.Pro1466Ser) | |
| 1 | g.8355564G>C | CA338168301 | RERE | c.2860C>G (p.Pro954Ala) c.4522C>G (p.Pro1508Ala) c.3718C>G (p.Pro1240Ala) c.1576C>G (p.Pro526Ala) c.490C>G (p.Pro164Ala) c.4396C>G (p.Pro1466Ala) | |
| 1 | g.8355564G>T | CA338168302 | RERE | c.2860C>A (p.Pro954Thr) c.4522C>A (p.Pro1508Thr) c.3718C>A (p.Pro1240Thr) c.1576C>A (p.Pro526Thr) c.490C>A (p.Pro164Thr) c.4396C>A (p.Pro1466Thr) | |
| 1 | g.8355565G>A | CA415842089 | RERE | c.2859C>T (p.Ile953=) c.4521C>T (p.Ile1507=) c.3717C>T (p.Ile1239=) c.1575C>T (p.Ile525=) c.489C>T (p.Ile163=) c.4395C>T (p.Ile1465=) | |
| 1 | g.8355565G>C | CA338168304 | RERE | c.2859C>G (p.Ile953Met) c.4521C>G (p.Ile1507Met) c.3717C>G (p.Ile1239Met) c.1575C>G (p.Ile525Met) c.489C>G (p.Ile163Met) c.4395C>G (p.Ile1465Met) | |
| 1 | g.8355565G>T | CA415842090 | RERE | c.2859C>A (p.Ile953=) c.4521C>A (p.Ile1507=) c.3717C>A (p.Ile1239=) c.1575C>A (p.Ile525=) c.489C>A (p.Ile163=) c.4395C>A (p.Ile1465=) | |
| 1 | g.8355566A>C | CA338168305 | RERE | c.2858T>G (p.Ile953Ser) c.4520T>G (p.Ile1507Ser) c.3716T>G (p.Ile1239Ser) c.1574T>G (p.Ile525Ser) c.488T>G (p.Ile163Ser) c.4394T>G (p.Ile1465Ser) | |
| 1 | g.8355566A>G | CA338168306 | RERE | c.2858T>C (p.Ile953Thr) c.4520T>C (p.Ile1507Thr) c.3716T>C (p.Ile1239Thr) c.1574T>C (p.Ile525Thr) c.488T>C (p.Ile163Thr) c.4394T>C (p.Ile1465Thr) | |
| 1 | g.8355566A>T | CA338168307 | RERE | c.2858T>A (p.Ile953Asn) c.4520T>A (p.Ile1507Asn) c.3716T>A (p.Ile1239Asn) c.1574T>A (p.Ile525Asn) c.488T>A (p.Ile163Asn) c.4394T>A (p.Ile1465Asn) | |
| 1 | g.8355567T>A | CA338168308 | RERE | c.2857A>T (p.Ile953Phe) c.4519A>T (p.Ile1507Phe) c.3715A>T (p.Ile1239Phe) c.1573A>T (p.Ile525Phe) c.487A>T (p.Ile163Phe) c.4393A>T (p.Ile1465Phe) | |
| 1 | g.8355567T>C | CA570751 | RERE | c.2857A>G (p.Ile953Val) c.4519A>G (p.Ile1507Val) c.3715A>G (p.Ile1239Val) c.1573A>G (p.Ile525Val) c.487A>G (p.Ile163Val) c.4393A>G (p.Ile1465Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355567T>G | CA338168309 | RERE | c.2857A>C (p.Ile953Leu) c.4519A>C (p.Ile1507Leu) c.3715A>C (p.Ile1239Leu) c.1573A>C (p.Ile525Leu) c.487A>C (p.Ile163Leu) c.4393A>C (p.Ile1465Leu) | gnomAD v4 |
| 1 | g.8355567T= | CA1142097729 | RERE | c.2857A= (p.Ile953=) c.4519A= (p.Ile1507=) c.3715A= (p.Ile1239=) c.1573A= (p.Ile525=) c.487A= (p.Ile163=) c.4393A= (p.Ile1465=) | |
| 1 | g.8355568G>A | CA570752 | RERE | c.2856C>T (p.Ala952=) c.4518C>T (p.Ala1506=) c.3714C>T (p.Ala1238=) c.1572C>T (p.Ala524=) c.486C>T (p.Ala162=) c.4392C>T (p.Ala1464=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355568G>C | CA415842091 | RERE | c.2856C>G (p.Ala952=) c.4518C>G (p.Ala1506=) c.3714C>G (p.Ala1238=) c.1572C>G (p.Ala524=) c.486C>G (p.Ala162=) c.4392C>G (p.Ala1464=) | |
| 1 | g.8355568G= | CA1152318889 | RERE | c.2856C= (p.Ala952=) c.4518C= (p.Ala1506=) c.3714C= (p.Ala1238=) c.1572C= (p.Ala524=) c.486C= (p.Ala162=) c.4392C= (p.Ala1464=) | |
| 1 | g.8355568G>T | CA415842092 | RERE | c.2856C>A (p.Ala952=) c.4518C>A (p.Ala1506=) c.3714C>A (p.Ala1238=) c.1572C>A (p.Ala524=) c.486C>A (p.Ala162=) c.4392C>A (p.Ala1464=) | gnomAD v4 |
| 1 | g.8355569G>A | CA570753 | RERE | c.2855C>T (p.Ala952Val) c.4517C>T (p.Ala1506Val) c.3713C>T (p.Ala1238Val) c.1571C>T (p.Ala524Val) c.485C>T (p.Ala162Val) c.4391C>T (p.Ala1464Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355569G>C | CA338168310 | RERE | c.2855C>G (p.Ala952Gly) c.4517C>G (p.Ala1506Gly) c.3713C>G (p.Ala1238Gly) c.1571C>G (p.Ala524Gly) c.485C>G (p.Ala162Gly) c.4391C>G (p.Ala1464Gly) | |
| 1 | g.8355569G= | CA1146365366 | RERE | c.2855C= (p.Ala952=) c.4517C= (p.Ala1506=) c.3713C= (p.Ala1238=) c.1571C= (p.Ala524=) c.485C= (p.Ala162=) c.4391C= (p.Ala1464=) | |
| 1 | g.8355569G>T | CA338168311 | RERE | c.2855C>A (p.Ala952Asp) c.4517C>A (p.Ala1506Asp) c.3713C>A (p.Ala1238Asp) c.1571C>A (p.Ala524Asp) c.485C>A (p.Ala162Asp) c.4391C>A (p.Ala1464Asp) | gnomAD v4 |