WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27363606T>A | CA395304738 | IL4R | c.2254T>A (p.Ser752Thr) c.2209T>A (p.Ser737Thr) c.230-497T>A (n.230-497T>A) c.*2297T>A (n.*2297T>A) c.1774T>A (p.Ser592Thr) c.1363T>A (p.Ser455Thr) c.1303T>A (p.Ser435Thr) c.1987T>A (p.Ser663Thr) c.1957T>A (p.Ser653Thr) c.1831T>A (p.Ser611Thr) | |
| 16 | g.27363606T>C | CA395304740 | IL4R | c.2254T>C (p.Ser752Pro) c.2209T>C (p.Ser737Pro) c.230-497T>C (n.230-497T>C) c.*2297T>C (n.*2297T>C) c.1774T>C (p.Ser592Pro) c.1363T>C (p.Ser455Pro) c.1303T>C (p.Ser435Pro) c.1987T>C (p.Ser663Pro) c.1957T>C (p.Ser653Pro) c.1831T>C (p.Ser611Pro) | |
| 16 | g.27363606T>G | CA7974714 | IL4R | c.2254T>G (p.Ser752Ala) c.2209T>G (p.Ser737Ala) c.230-497T>G (n.230-497T>G) c.*2297T>G (n.*2297T>G) c.1774T>G (p.Ser592Ala) c.1363T>G (p.Ser455Ala) c.1303T>G (p.Ser435Ala) c.1987T>G (p.Ser663Ala) c.1957T>G (p.Ser653Ala) c.1831T>G (p.Ser611Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27363606T= | CA2215170493 | IL4R | c.2254T= (p.Ser752=) c.2209T= (p.Ser737=) c.230-497T= (n.230-497T=) c.*2297T= (n.*2297T=) c.1774T= (p.Ser592=) c.1363T= (p.Ser455=) c.1303T= (p.Ser435=) c.1987T= (p.Ser663=) c.1957T= (p.Ser653=) c.1831T= (p.Ser611=) | |
| 16 | g.27363607C>A | CA395304744 | IL4R | c.2255C>A (p.Ser752Tyr) c.2210C>A (p.Ser737Tyr) c.230-496C>A (n.230-496C>A) c.*2298C>A (n.*2298C>A) c.1775C>A (p.Ser592Tyr) c.1364C>A (p.Ser455Tyr) c.1304C>A (p.Ser435Tyr) c.1988C>A (p.Ser663Tyr) c.1958C>A (p.Ser653Tyr) c.1832C>A (p.Ser611Tyr) | dbSNP gnomAD v2 |
| 16 | g.27363607C= | CA2215170499 | IL4R | c.2255C= (p.Ser752=) c.2210C= (p.Ser737=) c.230-496C= (n.230-496C=) c.*2298C= (n.*2298C=) c.1775C= (p.Ser592=) c.1364C= (p.Ser455=) c.1304C= (p.Ser435=) c.1988C= (p.Ser663=) c.1958C= (p.Ser653=) c.1832C= (p.Ser611=) | |
| 16 | g.27363607C>G | CA7974715 | IL4R | c.2255C>G (p.Ser752Cys) c.2210C>G (p.Ser737Cys) c.230-496C>G (n.230-496C>G) c.*2298C>G (n.*2298C>G) c.1775C>G (p.Ser592Cys) c.1364C>G (p.Ser455Cys) c.1304C>G (p.Ser435Cys) c.1988C>G (p.Ser663Cys) c.1958C>G (p.Ser653Cys) c.1832C>G (p.Ser611Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.27363607C>T | CA395304747 | IL4R | c.2255C>T (p.Ser752Phe) c.2210C>T (p.Ser737Phe) c.230-496C>T (n.230-496C>T) c.*2298C>T (n.*2298C>T) c.1775C>T (p.Ser592Phe) c.1364C>T (p.Ser455Phe) c.1304C>T (p.Ser435Phe) c.1988C>T (p.Ser663Phe) c.1958C>T (p.Ser653Phe) c.1832C>T (p.Ser611Phe) | gnomAD v4 COSMIC |
| 16 | g.27363608C>A | CA494470719 | IL4R | c.2256C>A (p.Ser752=) c.2211C>A (p.Ser737=) c.230-495C>A (n.230-495C>A) c.*2299C>A (n.*2299C>A) c.1776C>A (p.Ser592=) c.1365C>A (p.Ser455=) c.1305C>A (p.Ser435=) c.1989C>A (p.Ser663=) c.1959C>A (p.Ser653=) c.1833C>A (p.Ser611=) | dbSNP |
| 16 | g.27363608C= | CA2215170506 | IL4R | c.2256C= (p.Ser752=) c.2211C= (p.Ser737=) c.230-495C= (n.230-495C=) c.*2299C= (n.*2299C=) c.1776C= (p.Ser592=) c.1365C= (p.Ser455=) c.1305C= (p.Ser435=) c.1989C= (p.Ser663=) c.1959C= (p.Ser653=) c.1833C= (p.Ser611=) | |
| 16 | g.27363608C>G | CA494470720 | IL4R | c.2256C>G (p.Ser752=) c.2211C>G (p.Ser737=) c.230-495C>G (n.230-495C>G) c.*2299C>G (n.*2299C>G) c.1776C>G (p.Ser592=) c.1365C>G (p.Ser455=) c.1305C>G (p.Ser435=) c.1989C>G (p.Ser663=) c.1959C>G (p.Ser653=) c.1833C>G (p.Ser611=) | |
| 16 | g.27363608C>T | CA494470721 | IL4R | c.2256C>T (p.Ser752=) c.2211C>T (p.Ser737=) c.230-495C>T (n.230-495C>T) c.*2299C>T (n.*2299C>T) c.1776C>T (p.Ser592=) c.1365C>T (p.Ser455=) c.1305C>T (p.Ser435=) c.1989C>T (p.Ser663=) c.1959C>T (p.Ser653=) c.1833C>T (p.Ser611=) | gnomAD v4 |
| 16 | g.27363609T>A | CA395304751 | IL4R | c.2257T>A (p.Ser753Thr) c.2212T>A (p.Ser738Thr) c.230-494T>A (n.230-494T>A) c.*2300T>A (n.*2300T>A) c.1777T>A (p.Ser593Thr) c.1366T>A (p.Ser456Thr) c.1306T>A (p.Ser436Thr) c.1990T>A (p.Ser664Thr) c.1960T>A (p.Ser654Thr) c.1834T>A (p.Ser612Thr) | |
| 16 | g.27363609T>C | CA395304754 | IL4R | c.2257T>C (p.Ser753Pro) c.2212T>C (p.Ser738Pro) c.230-494T>C (n.230-494T>C) c.*2300T>C (n.*2300T>C) c.1777T>C (p.Ser593Pro) c.1366T>C (p.Ser456Pro) c.1306T>C (p.Ser436Pro) c.1990T>C (p.Ser664Pro) c.1960T>C (p.Ser654Pro) c.1834T>C (p.Ser612Pro) | |
| 16 | g.27363609T>G | CA395304756 | IL4R | c.2257T>G (p.Ser753Ala) c.2212T>G (p.Ser738Ala) c.230-494T>G (n.230-494T>G) c.*2300T>G (n.*2300T>G) c.1777T>G (p.Ser593Ala) c.1366T>G (p.Ser456Ala) c.1306T>G (p.Ser436Ala) c.1990T>G (p.Ser664Ala) c.1960T>G (p.Ser654Ala) c.1834T>G (p.Ser612Ala) | |
| 16 | g.27363610C>A | CA395304759 | IL4R | c.2258C>A (p.Ser753Ter) c.2213C>A (p.Ser738Ter) c.230-493C>A (n.230-493C>A) c.*2301C>A (n.*2301C>A) c.1778C>A (p.Ser593Ter) c.1367C>A (p.Ser456Ter) c.1307C>A (p.Ser436Ter) c.1991C>A (p.Ser664Ter) c.1961C>A (p.Ser654Ter) c.1835C>A (p.Ser612Ter) | |
| 16 | g.27363610C= | CA2215170514 | IL4R | c.2258C= (p.Ser753=) c.2213C= (p.Ser738=) c.230-493C= (n.230-493C=) c.*2301C= (n.*2301C=) c.1778C= (p.Ser593=) c.1367C= (p.Ser456=) c.1307C= (p.Ser436=) c.1991C= (p.Ser664=) c.1961C= (p.Ser654=) c.1835C= (p.Ser612=) | |
| 16 | g.27363610C>G | CA395304761 | IL4R | c.2258C>G (p.Ser753Trp) c.2213C>G (p.Ser738Trp) c.230-493C>G (n.230-493C>G) c.*2301C>G (n.*2301C>G) c.1778C>G (p.Ser593Trp) c.1367C>G (p.Ser456Trp) c.1307C>G (p.Ser436Trp) c.1991C>G (p.Ser664Trp) c.1961C>G (p.Ser654Trp) c.1835C>G (p.Ser612Trp) | |
| 16 | g.27363610C>T | CA7974716 | IL4R | c.2258C>T (p.Ser753Leu) c.2213C>T (p.Ser738Leu) c.230-493C>T (n.230-493C>T) c.*2301C>T (n.*2301C>T) c.1778C>T (p.Ser593Leu) c.1367C>T (p.Ser456Leu) c.1307C>T (p.Ser436Leu) c.1991C>T (p.Ser664Leu) c.1961C>T (p.Ser654Leu) c.1835C>T (p.Ser612Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.27363611G>A | CA7974718 | IL4R | c.2259G>A (p.Ser753=) c.2214G>A (p.Ser738=) c.230-492G>A (n.230-492G>A) c.*2302G>A (n.*2302G>A) c.1779G>A (p.Ser593=) c.1368G>A (p.Ser456=) c.1308G>A (p.Ser436=) c.1992G>A (p.Ser664=) c.1962G>A (p.Ser654=) c.1836G>A (p.Ser612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.27363611G>C | CA7974717 | IL4R | c.2259G>C (p.Ser753=) c.2214G>C (p.Ser738=) c.230-492G>C (n.230-492G>C) c.*2302G>C (n.*2302G>C) c.1779G>C (p.Ser593=) c.1368G>C (p.Ser456=) c.1308G>C (p.Ser436=) c.1992G>C (p.Ser664=) c.1962G>C (p.Ser654=) c.1836G>C (p.Ser612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.27363611G= | CA2215170521 | IL4R | c.2259G= (p.Ser753=) c.2214G= (p.Ser738=) c.230-492G= (n.230-492G=) c.*2302G= (n.*2302G=) c.1779G= (p.Ser593=) c.1368G= (p.Ser456=) c.1308G= (p.Ser436=) c.1992G= (p.Ser664=) c.1962G= (p.Ser654=) c.1836G= (p.Ser612=) | |
| 16 | g.27363611G>T | CA494470727 | IL4R | c.2259G>T (p.Ser753=) c.2214G>T (p.Ser738=) c.230-492G>T (n.230-492G>T) c.*2302G>T (n.*2302G>T) c.1779G>T (p.Ser593=) c.1368G>T (p.Ser456=) c.1308G>T (p.Ser436=) c.1992G>T (p.Ser664=) c.1962G>T (p.Ser654=) c.1836G>T (p.Ser612=) | |
| 16 | g.27363612C>A | CA395304769 | IL4R | c.2260C>A (p.Pro754Thr) c.2215C>A (p.Pro739Thr) c.230-491C>A (n.230-491C>A) c.*2303C>A (n.*2303C>A) c.1780C>A (p.Pro594Thr) c.1369C>A (p.Pro457Thr) c.1309C>A (p.Pro437Thr) c.1993C>A (p.Pro665Thr) c.1963C>A (p.Pro655Thr) c.1837C>A (p.Pro613Thr) | gnomAD v4 |
| 16 | g.27363612C>G | CA395304772 | IL4R | c.2260C>G (p.Pro754Ala) c.2215C>G (p.Pro739Ala) c.230-491C>G (n.230-491C>G) c.*2303C>G (n.*2303C>G) c.1780C>G (p.Pro594Ala) c.1369C>G (p.Pro457Ala) c.1309C>G (p.Pro437Ala) c.1993C>G (p.Pro665Ala) c.1963C>G (p.Pro655Ala) c.1837C>G (p.Pro613Ala) | |
| 16 | g.27363612C>T | CA395304774 | IL4R | c.2260C>T (p.Pro754Ser) c.2215C>T (p.Pro739Ser) c.230-491C>T (n.230-491C>T) c.*2303C>T (n.*2303C>T) c.1780C>T (p.Pro594Ser) c.1369C>T (p.Pro457Ser) c.1309C>T (p.Pro437Ser) c.1993C>T (p.Pro665Ser) c.1963C>T (p.Pro655Ser) c.1837C>T (p.Pro613Ser) | COSMIC |
| 16 | g.27363616dup | CA2632431255 | IL4R | c.2264dup (p.Thr756TyrfsTer?) c.2219dup (p.Thr741TyrfsTer?) c.230-487dup (n.230-487dup) c.*2307dup (n.*2307dup) c.1784dup (p.Thr596TyrfsTer?) c.1373dup (p.Thr459TyrfsTer?) c.1313dup (p.Thr439TyrfsTer?) c.1997dup (p.Thr667TyrfsTer?) c.1967dup (p.Thr657TyrfsTer?) c.1841dup (p.Thr615TyrfsTer?) | gnomAD v4 |
| 16 | g.27363613C>A | CA395304783 | IL4R | c.2261C>A (p.Pro754His) c.2216C>A (p.Pro739His) c.230-490C>A (n.230-490C>A) c.*2304C>A (n.*2304C>A) c.1781C>A (p.Pro594His) c.1370C>A (p.Pro457His) c.1310C>A (p.Pro437His) c.1994C>A (p.Pro665His) c.1964C>A (p.Pro655His) c.1838C>A (p.Pro613His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.27363613C= | CA2215170534 | IL4R | c.2261C= (p.Pro754=) c.2216C= (p.Pro739=) c.230-490C= (n.230-490C=) c.*2304C= (n.*2304C=) c.1781C= (p.Pro594=) c.1370C= (p.Pro457=) c.1310C= (p.Pro437=) c.1994C= (p.Pro665=) c.1964C= (p.Pro655=) c.1838C= (p.Pro613=) | |
| 16 | g.27363613C>G | CA395304781 | IL4R | c.2261C>G (p.Pro754Arg) c.2216C>G (p.Pro739Arg) c.230-490C>G (n.230-490C>G) c.*2304C>G (n.*2304C>G) c.1781C>G (p.Pro594Arg) c.1370C>G (p.Pro457Arg) c.1310C>G (p.Pro437Arg) c.1994C>G (p.Pro665Arg) c.1964C>G (p.Pro655Arg) c.1838C>G (p.Pro613Arg) | |
| 16 | g.27363613C>T | CA395304778 | IL4R | c.2261C>T (p.Pro754Leu) c.2216C>T (p.Pro739Leu) c.230-490C>T (n.230-490C>T) c.*2304C>T (n.*2304C>T) c.1781C>T (p.Pro594Leu) c.1370C>T (p.Pro457Leu) c.1310C>T (p.Pro437Leu) c.1994C>T (p.Pro665Leu) c.1964C>T (p.Pro655Leu) c.1838C>T (p.Pro613Leu) | gnomAD v4 |
| 16 | g.27363614C>A | CA494470734 | IL4R | c.2262C>A (p.Pro754=) c.2217C>A (p.Pro739=) c.230-489C>A (n.230-489C>A) c.*2305C>A (n.*2305C>A) c.1782C>A (p.Pro594=) c.1371C>A (p.Pro457=) c.1311C>A (p.Pro437=) c.1995C>A (p.Pro665=) c.1965C>A (p.Pro655=) c.1839C>A (p.Pro613=) | |
| 16 | g.27363614C>G | CA494470735 | IL4R | c.2262C>G (p.Pro754=) c.2217C>G (p.Pro739=) c.230-489C>G (n.230-489C>G) c.*2305C>G (n.*2305C>G) c.1782C>G (p.Pro594=) c.1371C>G (p.Pro457=) c.1311C>G (p.Pro437=) c.1995C>G (p.Pro665=) c.1965C>G (p.Pro655=) c.1839C>G (p.Pro613=) | |
| 16 | g.27363614C>T | CA494470736 | IL4R | c.2262C>T (p.Pro754=) c.2217C>T (p.Pro739=) c.230-489C>T (n.230-489C>T) c.*2305C>T (n.*2305C>T) c.1782C>T (p.Pro594=) c.1371C>T (p.Pro457=) c.1311C>T (p.Pro437=) c.1995C>T (p.Pro665=) c.1965C>T (p.Pro655=) c.1839C>T (p.Pro613=) | gnomAD v4 |
| 16 | g.27363615C>A | CA395304785 | IL4R | c.2263C>A (p.Pro755Thr) c.2218C>A (p.Pro740Thr) c.230-488C>A (n.230-488C>A) c.*2306C>A (n.*2306C>A) c.1783C>A (p.Pro595Thr) c.1372C>A (p.Pro458Thr) c.1312C>A (p.Pro438Thr) c.1996C>A (p.Pro666Thr) c.1966C>A (p.Pro656Thr) c.1840C>A (p.Pro614Thr) | COSMIC |
| 16 | g.27363615C= | CA2215170542 | IL4R | c.2263C= (p.Pro755=) c.2218C= (p.Pro740=) c.230-488C= (n.230-488C=) c.*2306C= (n.*2306C=) c.1783C= (p.Pro595=) c.1372C= (p.Pro458=) c.1312C= (p.Pro438=) c.1996C= (p.Pro666=) c.1966C= (p.Pro656=) c.1840C= (p.Pro614=) | |
| 16 | g.27363615C>G | CA395304787 | IL4R | c.2263C>G (p.Pro755Ala) c.2218C>G (p.Pro740Ala) c.230-488C>G (n.230-488C>G) c.*2306C>G (n.*2306C>G) c.1783C>G (p.Pro595Ala) c.1372C>G (p.Pro458Ala) c.1312C>G (p.Pro438Ala) c.1996C>G (p.Pro666Ala) c.1966C>G (p.Pro656Ala) c.1840C>G (p.Pro614Ala) | |
| 16 | g.27363615C>T | CA395304790 | IL4R | c.2263C>T (p.Pro755Ser) c.2218C>T (p.Pro740Ser) c.230-488C>T (n.230-488C>T) c.*2306C>T (n.*2306C>T) c.1783C>T (p.Pro595Ser) c.1372C>T (p.Pro458Ser) c.1312C>T (p.Pro438Ser) c.1996C>T (p.Pro666Ser) c.1966C>T (p.Pro656Ser) c.1840C>T (p.Pro614Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27363616C>A | CA395304793 | IL4R | c.2264C>A (p.Pro755His) c.2219C>A (p.Pro740His) c.230-487C>A (n.230-487C>A) c.*2307C>A (n.*2307C>A) c.1784C>A (p.Pro595His) c.1373C>A (p.Pro458His) c.1313C>A (p.Pro438His) c.1997C>A (p.Pro666His) c.1967C>A (p.Pro656His) c.1841C>A (p.Pro614His) | gnomAD v4 |
| 16 | g.27363616C= | CA2215170552 | IL4R | c.2264C= (p.Pro755=) c.2219C= (p.Pro740=) c.230-487C= (n.230-487C=) c.*2307C= (n.*2307C=) c.1784C= (p.Pro595=) c.1373C= (p.Pro458=) c.1313C= (p.Pro438=) c.1997C= (p.Pro666=) c.1967C= (p.Pro656=) c.1841C= (p.Pro614=) | |
| 16 | g.27363616C>G | CA395304795 | IL4R | c.2264C>G (p.Pro755Arg) c.2219C>G (p.Pro740Arg) c.230-487C>G (n.230-487C>G) c.*2307C>G (n.*2307C>G) c.1784C>G (p.Pro595Arg) c.1373C>G (p.Pro458Arg) c.1313C>G (p.Pro438Arg) c.1997C>G (p.Pro666Arg) c.1967C>G (p.Pro656Arg) c.1841C>G (p.Pro614Arg) | |
| 16 | g.27363616C>T | CA395304797 | IL4R | c.2264C>T (p.Pro755Leu) c.2219C>T (p.Pro740Leu) c.230-487C>T (n.230-487C>T) c.*2307C>T (n.*2307C>T) c.1784C>T (p.Pro595Leu) c.1373C>T (p.Pro458Leu) c.1313C>T (p.Pro438Leu) c.1997C>T (p.Pro666Leu) c.1967C>T (p.Pro656Leu) c.1841C>T (p.Pro614Leu) | |
| 16 | g.27363616_27363617delinsCT | CA2215170555 | IL4R | c.2264_2265delinsCT (p.Pro755=) c.2219_2220delinsCT (p.Pro740=) c.230-487_230-486delinsCT (n.230-487_230-486delinsCT) c.*2307_*2308delinsCT (n.*2307_*2308delinsCT) c.1784_1785delinsCT (p.Pro595=) c.1373_1374delinsCT (p.Pro458=) c.1313_1314delinsCT (p.Pro438=) c.1997_1998delinsCT (p.Pro666=) c.1967_1968delinsCT (p.Pro656=) c.1841_1842delinsCT (p.Pro614=) | |
| 16 | g.27363617del | CA621770776 | IL4R | c.2265del (p.Thr756GlnfsTer4) c.2220del (p.Thr741GlnfsTer4) c.230-486del (n.230-486del) c.*2308del (n.*2308del) c.1785del (p.Thr596GlnfsTer4) c.1374del (p.Thr459GlnfsTer4) c.1314del (p.Thr439GlnfsTer4) c.1998del (p.Thr667GlnfsTer4) c.1968del (p.Thr657GlnfsTer4) c.1842del (p.Thr615GlnfsTer4) | dbSNP gnomAD v2 |
| 16 | g.27363617T>A | CA279687820 | IL4R | c.2265T>A (p.Pro755=) c.2220T>A (p.Pro740=) c.230-486T>A (n.230-486T>A) c.*2308T>A (n.*2308T>A) c.1785T>A (p.Pro595=) c.1374T>A (p.Pro458=) c.1314T>A (p.Pro438=) c.1998T>A (p.Pro666=) c.1968T>A (p.Pro656=) c.1842T>A (p.Pro614=) | dbSNP |
| 16 | g.27363617T>C | CA7974720 | IL4R | c.2265T>C (p.Pro755=) c.2220T>C (p.Pro740=) c.230-486T>C (n.230-486T>C) c.*2308T>C (n.*2308T>C) c.1785T>C (p.Pro595=) c.1374T>C (p.Pro458=) c.1314T>C (p.Pro438=) c.1998T>C (p.Pro666=) c.1968T>C (p.Pro656=) c.1842T>C (p.Pro614=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27363617T>G | CA494470739 | IL4R | c.2265T>G (p.Pro755=) c.2220T>G (p.Pro740=) c.230-486T>G (n.230-486T>G) c.*2308T>G (n.*2308T>G) c.1785T>G (p.Pro595=) c.1374T>G (p.Pro458=) c.1314T>G (p.Pro438=) c.1998T>G (p.Pro666=) c.1968T>G (p.Pro656=) c.1842T>G (p.Pro614=) | |
| 16 | g.27363617T= | CA2215170568 | IL4R | c.2265T= (p.Pro755=) c.2220T= (p.Pro740=) c.230-486T= (n.230-486T=) c.*2308T= (n.*2308T=) c.1785T= (p.Pro595=) c.1374T= (p.Pro458=) c.1314T= (p.Pro438=) c.1998T= (p.Pro666=) c.1968T= (p.Pro656=) c.1842T= (p.Pro614=) | |
| 16 | g.27363617dup | CA7974719 | IL4R | c.2265dup (p.Thr756TyrfsTer?) c.2220dup (p.Thr741TyrfsTer?) c.230-486dup (n.230-486dup) c.*2308dup (n.*2308dup) c.1785dup (p.Thr596TyrfsTer?) c.1374dup (p.Thr459TyrfsTer?) c.1314dup (p.Thr439TyrfsTer?) c.1998dup (p.Thr667TyrfsTer?) c.1968dup (p.Thr657TyrfsTer?) c.1842dup (p.Thr615TyrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27363618A= | CA2215170574 | IL4R | c.2266A= (p.Thr756=) c.2221A= (p.Thr741=) c.230-485A= (n.230-485A=) c.*2309A= (n.*2309A=) c.1786A= (p.Thr596=) c.1375A= (p.Thr459=) c.1315A= (p.Thr439=) c.1999A= (p.Thr667=) c.1969A= (p.Thr657=) c.1843A= (p.Thr615=) |