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 |
|---|---|---|---|---|---|
| 14 | g.91273528A>C | CA390610699 | CCDC88C | c.5184T>G (p.Phe1728Leu) c.756T>G (p.Phe252Leu) n.996T>G c.1412T>G c.5076T>G (p.Phe1692Leu) n.5459T>G c.2265T>G (p.Phe755Leu) n.5457T>G | |
| 14 | g.91273528A>G | CA487829328 | CCDC88C | c.5184T>C (p.Phe1728=) c.756T>C (p.Phe252=) n.996T>C c.1412T>C c.5076T>C (p.Phe1692=) n.5459T>C c.2265T>C (p.Phe755=) n.5457T>C | |
| 14 | g.91273528A>T | CA390610700 | CCDC88C | c.5184T>A (p.Phe1728Leu) c.756T>A (p.Phe252Leu) n.996T>A c.1412T>A c.5076T>A (p.Phe1692Leu) n.5459T>A c.2265T>A (p.Phe755Leu) n.5457T>A | gnomAD v4 |
| 14 | g.91273529A= | CA2154902614 | CCDC88C | c.5183T= (p.Phe1728=) c.755T= (p.Phe252=) n.995T= c.1411T= c.5075T= (p.Phe1692=) n.5458T= c.2264T= (p.Phe755=) n.5456T= | |
| 14 | g.91273529A>C | CA390610702 | CCDC88C | c.5183T>G (p.Phe1728Cys) c.755T>G (p.Phe252Cys) n.995T>G c.1411T>G c.5075T>G (p.Phe1692Cys) n.5458T>G c.2264T>G (p.Phe755Cys) n.5456T>G | dbSNP gnomAD v4 |
| 14 | g.91273529A>G | CA7308715 | CCDC88C | c.5183T>C (p.Phe1728Ser) c.755T>C (p.Phe252Ser) n.995T>C c.1411T>C c.5075T>C (p.Phe1692Ser) n.5458T>C c.2264T>C (p.Phe755Ser) n.5456T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273529A>T | CA390610701 | CCDC88C | c.5183T>A (p.Phe1728Tyr) c.755T>A (p.Phe252Tyr) n.995T>A c.1411T>A c.5075T>A (p.Phe1692Tyr) n.5458T>A c.2264T>A (p.Phe755Tyr) n.5456T>A | |
| 14 | g.91273530A= | CA2154902621 | CCDC88C | c.5182T= (p.Phe1728=) c.754T= (p.Phe252=) n.994T= c.1410T= c.5074T= (p.Phe1692=) n.5457T= c.2263T= (p.Phe755=) n.5455T= | |
| 14 | g.91273530A>C | CA390610703 | CCDC88C | c.5182T>G (p.Phe1728Val) c.754T>G (p.Phe252Val) n.994T>G c.1410T>G c.5074T>G (p.Phe1692Val) n.5457T>G c.2263T>G (p.Phe755Val) n.5455T>G | |
| 14 | g.91273530A>G | CA390610704 | CCDC88C | c.5182T>C (p.Phe1728Leu) c.754T>C (p.Phe252Leu) n.994T>C c.1410T>C c.5074T>C (p.Phe1692Leu) n.5457T>C c.2263T>C (p.Phe755Leu) n.5455T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273530A>T | CA390610705 | CCDC88C | c.5182T>A (p.Phe1728Ile) c.754T>A (p.Phe252Ile) n.994T>A c.1410T>A c.5074T>A (p.Phe1692Ile) n.5457T>A c.2263T>A (p.Phe755Ile) n.5455T>A | |
| 14 | g.91273531G>A | CA7308716 | CCDC88C | c.5181C>T (p.Asn1727=) c.753C>T (p.Asn251=) n.993C>T c.1409C>T c.5073C>T (p.Asn1691=) n.5456C>T c.2262C>T (p.Asn754=) n.5454C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.91273531G>C | CA390610706 | CCDC88C | c.5181C>G (p.Asn1727Lys) c.753C>G (p.Asn251Lys) n.993C>G c.1409C>G c.5073C>G (p.Asn1691Lys) n.5456C>G c.2262C>G (p.Asn754Lys) n.5454C>G | |
| 14 | g.91273531G= | CA2154902627 | CCDC88C | c.5181C= (p.Asn1727=) c.753C= (p.Asn251=) n.993C= c.1409C= c.5073C= (p.Asn1691=) n.5456C= c.2262C= (p.Asn754=) n.5454C= | |
| 14 | g.91273531G>T | CA390610707 | CCDC88C | c.5181C>A (p.Asn1727Lys) c.753C>A (p.Asn251Lys) n.993C>A c.1409C>A c.5073C>A (p.Asn1691Lys) n.5456C>A c.2262C>A (p.Asn754Lys) n.5454C>A | |
| 14 | g.91273532T>A | CA390610708 | CCDC88C | c.5180A>T (p.Asn1727Ile) c.752A>T (p.Asn251Ile) n.992A>T c.1408A>T c.5072A>T (p.Asn1691Ile) n.5455A>T c.2261A>T (p.Asn754Ile) n.5453A>T | |
| 14 | g.91273532T>C | CA390610709 | CCDC88C | c.5180A>G (p.Asn1727Ser) c.752A>G (p.Asn251Ser) n.992A>G c.1408A>G c.5072A>G (p.Asn1691Ser) n.5455A>G c.2261A>G (p.Asn754Ser) n.5453A>G | gnomAD v4 |
| 14 | g.91273532T>G | CA390610710 | CCDC88C | c.5180A>C (p.Asn1727Thr) c.752A>C (p.Asn251Thr) n.992A>C c.1408A>C c.5072A>C (p.Asn1691Thr) n.5455A>C c.2261A>C (p.Asn754Thr) n.5453A>C | dbSNP |
| 14 | g.91273532T= | CA2154902632 | CCDC88C | c.5180A= (p.Asn1727=) c.752A= (p.Asn251=) n.992A= c.1408A= c.5072A= (p.Asn1691=) n.5455A= c.2261A= (p.Asn754=) n.5453A= | |
| 14 | g.91273533T>A | CA390610711 | CCDC88C | c.5179A>T (p.Asn1727Tyr) c.751A>T (p.Asn251Tyr) n.991A>T c.1407A>T c.5071A>T (p.Asn1691Tyr) n.5454A>T c.2260A>T (p.Asn754Tyr) n.5452A>T | |
| 14 | g.91273533T>C | CA390610712 | CCDC88C | c.5179A>G (p.Asn1727Asp) c.751A>G (p.Asn251Asp) n.991A>G c.1407A>G c.5071A>G (p.Asn1691Asp) n.5454A>G c.2260A>G (p.Asn754Asp) n.5452A>G | |
| 14 | g.91273533T>G | CA390610713 | CCDC88C | c.5179A>C (p.Asn1727His) c.751A>C (p.Asn251His) n.991A>C c.1407A>C c.5071A>C (p.Asn1691His) n.5454A>C c.2260A>C (p.Asn754His) n.5452A>C | |
| 14 | g.91273534G>A | CA487829329 | CCDC88C | c.5178C>T (p.Thr1726=) c.750C>T (p.Thr250=) n.990C>T c.1406C>T c.5070C>T (p.Thr1690=) n.5453C>T c.2259C>T (p.Thr753=) n.5451C>T | |
| 14 | g.91273534G>C | CA487829330 | CCDC88C | c.5178C>G (p.Thr1726=) c.750C>G (p.Thr250=) n.990C>G c.1406C>G c.5070C>G (p.Thr1690=) n.5453C>G c.2259C>G (p.Thr753=) n.5451C>G | gnomAD v4 |
| 14 | g.91273534G>T | CA487829331 | CCDC88C | c.5178C>A (p.Thr1726=) c.750C>A (p.Thr250=) n.990C>A c.1406C>A c.5070C>A (p.Thr1690=) n.5453C>A c.2259C>A (p.Thr753=) n.5451C>A | |
| 14 | g.91273535G>A | CA7308717 | CCDC88C | c.5177C>T (p.Thr1726Ile) c.749C>T (p.Thr250Ile) n.989C>T c.1405C>T c.5069C>T (p.Thr1690Ile) n.5452C>T c.2258C>T (p.Thr753Ile) n.5450C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273535G>C | CA390610714 | CCDC88C | c.5177C>G (p.Thr1726Ser) c.749C>G (p.Thr250Ser) n.989C>G c.1405C>G c.5069C>G (p.Thr1690Ser) n.5452C>G c.2258C>G (p.Thr753Ser) n.5450C>G | gnomAD v4 |
| 14 | g.91273535G= | CA2154902640 | CCDC88C | c.5177C= (p.Thr1726=) c.749C= (p.Thr250=) n.989C= c.1405C= c.5069C= (p.Thr1690=) n.5452C= c.2258C= (p.Thr753=) n.5450C= | |
| 14 | g.91273535G>T | CA265518508 | CCDC88C | c.5177C>A (p.Thr1726Asn) c.749C>A (p.Thr250Asn) n.989C>A c.1405C>A c.5069C>A (p.Thr1690Asn) n.5452C>A c.2258C>A (p.Thr753Asn) n.5450C>A | dbSNP gnomAD v4 |
| 14 | g.91273536T>A | CA390610715 | CCDC88C | c.5176A>T (p.Thr1726Ser) c.748A>T (p.Thr250Ser) n.988A>T c.1404A>T c.5068A>T (p.Thr1690Ser) n.5451A>T c.2257A>T (p.Thr753Ser) n.5449A>T | |
| 14 | g.91273536T>C | CA390610717 | CCDC88C | c.5176A>G (p.Thr1726Ala) c.748A>G (p.Thr250Ala) n.988A>G c.1404A>G c.5068A>G (p.Thr1690Ala) n.5451A>G c.2257A>G (p.Thr753Ala) n.5449A>G | gnomAD v4 |
| 14 | g.91273536T>G | CA390610716 | CCDC88C | c.5176A>C (p.Thr1726Pro) c.748A>C (p.Thr250Pro) n.988A>C c.1404A>C c.5068A>C (p.Thr1690Pro) n.5451A>C c.2257A>C (p.Thr753Pro) n.5449A>C | dbSNP |
| 14 | g.91273536T= | CA2154902644 | CCDC88C | c.5176A= (p.Thr1726=) c.748A= (p.Thr250=) n.988A= c.1404A= c.5068A= (p.Thr1690=) n.5451A= c.2257A= (p.Thr753=) n.5449A= | |
| 14 | g.91273537G>A | CA487829332 | CCDC88C | c.5175C>T (p.Pro1725=) c.747C>T (p.Pro249=) n.987C>T c.1403C>T c.5067C>T (p.Pro1689=) n.5450C>T c.2256C>T (p.Pro752=) n.5448C>T | gnomAD v4 |
| 14 | g.91273537G>C | CA487829333 | CCDC88C | c.5175C>G (p.Pro1725=) c.747C>G (p.Pro249=) n.987C>G c.1403C>G c.5067C>G (p.Pro1689=) n.5450C>G c.2256C>G (p.Pro752=) n.5448C>G | |
| 14 | g.91273537G>T | CA487829334 | CCDC88C | c.5175C>A (p.Pro1725=) c.747C>A (p.Pro249=) n.987C>A c.1403C>A c.5067C>A (p.Pro1689=) n.5450C>A c.2256C>A (p.Pro752=) n.5448C>A | gnomAD v4 |
| 14 | g.91273539del | CA2626123447 | CCDC88C | c.5175del (p.Thr1726ProfsTer20) c.747del (p.Thr250ProfsTer20) n.987del c.1403del c.5067del (p.Thr1690ProfsTer20) n.5450del c.2256del (p.Thr753ProfsTer20) n.5448del | gnomAD v4 |
| 14 | g.91273538G>A | CA390610718 | CCDC88C | c.5174C>T (p.Pro1725Leu) c.746C>T (p.Pro249Leu) n.986C>T c.1402C>T c.5066C>T (p.Pro1689Leu) n.5449C>T c.2255C>T (p.Pro752Leu) n.5447C>T | gnomAD v4 |
| 14 | g.91273538G>C | CA390610719 | CCDC88C | c.5174C>G (p.Pro1725Arg) c.746C>G (p.Pro249Arg) n.986C>G c.1402C>G c.5066C>G (p.Pro1689Arg) n.5449C>G c.2255C>G (p.Pro752Arg) n.5447C>G | |
| 14 | g.91273538G>T | CA390610720 | CCDC88C | c.5174C>A (p.Pro1725His) c.746C>A (p.Pro249His) n.986C>A c.1402C>A c.5066C>A (p.Pro1689His) n.5449C>A c.2255C>A (p.Pro752His) n.5447C>A | gnomAD v4 |
| 14 | g.91273539G>A | CA390610721 | CCDC88C | c.5173C>T (p.Pro1725Ser) c.745C>T (p.Pro249Ser) n.985C>T c.1401C>T c.5065C>T (p.Pro1689Ser) n.5448C>T c.2254C>T (p.Pro752Ser) n.5446C>T | gnomAD v4 |
| 14 | g.91273539G>C | CA390610722 | CCDC88C | c.5173C>G (p.Pro1725Ala) c.745C>G (p.Pro249Ala) n.985C>G c.1401C>G c.5065C>G (p.Pro1689Ala) n.5448C>G c.2254C>G (p.Pro752Ala) n.5446C>G | |
| 14 | g.91273539G>T | CA390610723 | CCDC88C | c.5173C>A (p.Pro1725Thr) c.745C>A (p.Pro249Thr) n.985C>A c.1401C>A c.5065C>A (p.Pro1689Thr) n.5448C>A c.2254C>A (p.Pro752Thr) n.5446C>A | |
| 14 | g.91273540C>A | CA265518515 | CCDC88C | c.5172G>T (p.Met1724Ile) c.744G>T (p.Met248Ile) n.984G>T c.1400G>T c.5064G>T (p.Met1688Ile) n.5447G>T c.2253G>T (p.Met751Ile) n.5445G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273540C= | CA2154902655 | CCDC88C | c.5172G= (p.Met1724=) c.744G= (p.Met248=) n.984G= c.1400G= c.5064G= (p.Met1688=) n.5447G= c.2253G= (p.Met751=) n.5445G= | |
| 14 | g.91273540C>G | CA390610724 | CCDC88C | c.5172G>C (p.Met1724Ile) c.744G>C (p.Met248Ile) n.984G>C c.1400G>C c.5064G>C (p.Met1688Ile) n.5447G>C c.2253G>C (p.Met751Ile) n.5445G>C | dbSNP |
| 14 | g.91273540C>T | CA390610725 | CCDC88C | c.5172G>A (p.Met1724Ile) c.744G>A (p.Met248Ile) n.984G>A c.1400G>A c.5064G>A (p.Met1688Ile) n.5447G>A c.2253G>A (p.Met751Ile) n.5445G>A | gnomAD v4 |
| 14 | g.91273541A>C | CA390610726 | CCDC88C | c.5171T>G (p.Met1724Arg) c.743T>G (p.Met248Arg) n.983T>G c.1399T>G c.5063T>G (p.Met1688Arg) n.5446T>G c.2252T>G (p.Met751Arg) n.5444T>G | |
| 14 | g.91273541A>G | CA390610727 | CCDC88C | c.5171T>C (p.Met1724Thr) c.743T>C (p.Met248Thr) n.983T>C c.1399T>C c.5063T>C (p.Met1688Thr) n.5446T>C c.2252T>C (p.Met751Thr) n.5444T>C | |
| 14 | g.91273541A>T | CA390610728 | CCDC88C | c.5171T>A (p.Met1724Lys) c.743T>A (p.Met248Lys) n.983T>A c.1399T>A c.5063T>A (p.Met1688Lys) n.5446T>A c.2252T>A (p.Met751Lys) n.5444T>A |