Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27363611G>ACA7974718IL4Rc.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
16g.27363611G>CCA7974717IL4Rc.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
16g.27363611G=CA2215170521IL4Rc.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=)
16g.27363611G>TCA494470727IL4Rc.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=)
16g.27363612C>ACA395304769IL4Rc.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
16g.27363612C>GCA395304772IL4Rc.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)
16g.27363612C>TCA395304774IL4Rc.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
16g.27363616dupCA2632431255IL4Rc.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
16g.27363613C>ACA395304783IL4Rc.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
16g.27363613C=CA2215170534IL4Rc.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=)
16g.27363613C>GCA395304781IL4Rc.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)
16g.27363613C>TCA395304778IL4Rc.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
16g.27363614C>ACA494470734IL4Rc.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=)
16g.27363614C>GCA494470735IL4Rc.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=)
16g.27363614C>TCA494470736IL4Rc.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
16g.27363615C>ACA395304785IL4Rc.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
16g.27363615C=CA2215170542IL4Rc.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=)
16g.27363615C>GCA395304787IL4Rc.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)
16g.27363615C>TCA395304790IL4Rc.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
16g.27363616C>ACA395304793IL4Rc.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
16g.27363616C=CA2215170552IL4Rc.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=)
16g.27363616C>GCA395304795IL4Rc.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)
16g.27363616C>TCA395304797IL4Rc.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)
16g.27363616_27363617delinsCTCA2215170555IL4Rc.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=)
16g.27363617delCA621770776IL4Rc.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
16g.27363617T>ACA279687820IL4Rc.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
16g.27363617T>CCA7974720IL4Rc.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
16g.27363617T>GCA494470739IL4Rc.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=)
16g.27363617T=CA2215170568IL4Rc.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=)
16g.27363617dupCA7974719IL4Rc.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
16g.27363618A=CA2215170574IL4Rc.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=)
16g.27363618A>CCA395304805IL4Rc.2266A>C (p.Thr756Pro)
c.2221A>C (p.Thr741Pro)
c.230-485A>C (n.230-485A>C)
c.*2309A>C (n.*2309A>C)
c.1786A>C (p.Thr596Pro)
c.1375A>C (p.Thr459Pro)
c.1315A>C (p.Thr439Pro)
c.1999A>C (p.Thr667Pro)
c.1969A>C (p.Thr657Pro)
c.1843A>C (p.Thr615Pro)
 dbSNP
16g.27363618A>GCA395304806IL4Rc.2266A>G (p.Thr756Ala)
c.2221A>G (p.Thr741Ala)
c.230-485A>G (n.230-485A>G)
c.*2309A>G (n.*2309A>G)
c.1786A>G (p.Thr596Ala)
c.1375A>G (p.Thr459Ala)
c.1315A>G (p.Thr439Ala)
c.1999A>G (p.Thr667Ala)
c.1969A>G (p.Thr657Ala)
c.1843A>G (p.Thr615Ala)
 gnomAD v4
16g.27363618A>TCA395304809IL4Rc.2266A>T (p.Thr756Ser)
c.2221A>T (p.Thr741Ser)
c.230-485A>T (n.230-485A>T)
c.*2309A>T (n.*2309A>T)
c.1786A>T (p.Thr596Ser)
c.1375A>T (p.Thr459Ser)
c.1315A>T (p.Thr439Ser)
c.1999A>T (p.Thr667Ser)
c.1969A>T (p.Thr657Ser)
c.1843A>T (p.Thr615Ser)
16g.27363619C>ACA395304812IL4Rc.2267C>A (p.Thr756Lys)
c.2222C>A (p.Thr741Lys)
c.230-484C>A (n.230-484C>A)
c.*2310C>A (n.*2310C>A)
c.1787C>A (p.Thr596Lys)
c.1376C>A (p.Thr459Lys)
c.1316C>A (p.Thr439Lys)
c.2000C>A (p.Thr667Lys)
c.1970C>A (p.Thr657Lys)
c.1844C>A (p.Thr615Lys)
16g.27363619C>GCA395304815IL4Rc.2267C>G (p.Thr756Arg)
c.2222C>G (p.Thr741Arg)
c.230-484C>G (n.230-484C>G)
c.*2310C>G (n.*2310C>G)
c.1787C>G (p.Thr596Arg)
c.1376C>G (p.Thr459Arg)
c.1316C>G (p.Thr439Arg)
c.2000C>G (p.Thr667Arg)
c.1970C>G (p.Thr657Arg)
c.1844C>G (p.Thr615Arg)
16g.27363619C>TCA395304813IL4Rc.2267C>T (p.Thr756Ile)
c.2222C>T (p.Thr741Ile)
c.230-484C>T (n.230-484C>T)
c.*2310C>T (n.*2310C>T)
c.1787C>T (p.Thr596Ile)
c.1376C>T (p.Thr459Ile)
c.1316C>T (p.Thr439Ile)
c.2000C>T (p.Thr667Ile)
c.1970C>T (p.Thr657Ile)
c.1844C>T (p.Thr615Ile)
 gnomAD v4
16g.27363620A=CA2215170580IL4Rc.2268A= (p.Thr756=)
c.2223A= (p.Thr741=)
c.230-483A= (n.230-483A=)
c.*2311A= (n.*2311A=)
c.1788A= (p.Thr596=)
c.1377A= (p.Thr459=)
c.1317A= (p.Thr439=)
c.2001A= (p.Thr667=)
c.1971A= (p.Thr657=)
c.1845A= (p.Thr615=)
16g.27363620A>CCA494470745IL4Rc.2268A>C (p.Thr756=)
c.2223A>C (p.Thr741=)
c.230-483A>C (n.230-483A>C)
c.*2311A>C (n.*2311A>C)
c.1788A>C (p.Thr596=)
c.1377A>C (p.Thr459=)
c.1317A>C (p.Thr439=)
c.2001A>C (p.Thr667=)
c.1971A>C (p.Thr657=)
c.1845A>C (p.Thr615=)
 dbSNP
16g.27363620A>GCA494470747IL4Rc.2268A>G (p.Thr756=)
c.2223A>G (p.Thr741=)
c.230-483A>G (n.230-483A>G)
c.*2311A>G (n.*2311A>G)
c.1788A>G (p.Thr596=)
c.1377A>G (p.Thr459=)
c.1317A>G (p.Thr439=)
c.2001A>G (p.Thr667=)
c.1971A>G (p.Thr657=)
c.1845A>G (p.Thr615=)
16g.27363620A>TCA494470749IL4Rc.2268A>T (p.Thr756=)
c.2223A>T (p.Thr741=)
c.230-483A>T (n.230-483A>T)
c.*2311A>T (n.*2311A>T)
c.1788A>T (p.Thr596=)
c.1377A>T (p.Thr459=)
c.1317A>T (p.Thr439=)
c.2001A>T (p.Thr667=)
c.1971A>T (p.Thr657=)
c.1845A>T (p.Thr615=)
16g.27363621dupCA2806368082IL4Rc.2269dup (p.Thr757AsnfsTer?)
c.2224dup (p.Thr742AsnfsTer?)
c.230-482dup (n.230-482dup)
c.*2312dup (n.*2312dup)
c.1789dup (p.Thr597AsnfsTer?)
c.1378dup (p.Thr460AsnfsTer?)
c.1318dup (p.Thr440AsnfsTer?)
c.2002dup (p.Thr668AsnfsTer?)
c.1972dup (p.Thr658AsnfsTer?)
c.1846dup (p.Thr616AsnfsTer?)
16g.27363621A>CCA395304818IL4Rc.2269A>C (p.Thr757Pro)
c.2224A>C (p.Thr742Pro)
c.230-482A>C (n.230-482A>C)
c.*2312A>C (n.*2312A>C)
c.1789A>C (p.Thr597Pro)
c.1378A>C (p.Thr460Pro)
c.1318A>C (p.Thr440Pro)
c.2002A>C (p.Thr668Pro)
c.1972A>C (p.Thr658Pro)
c.1846A>C (p.Thr616Pro)
16g.27363621A>GCA395304822IL4Rc.2269A>G (p.Thr757Ala)
c.2224A>G (p.Thr742Ala)
c.230-482A>G (n.230-482A>G)
c.*2312A>G (n.*2312A>G)
c.1789A>G (p.Thr597Ala)
c.1378A>G (p.Thr460Ala)
c.1318A>G (p.Thr440Ala)
c.2002A>G (p.Thr668Ala)
c.1972A>G (p.Thr658Ala)
c.1846A>G (p.Thr616Ala)
16g.27363621A>TCA395304820IL4Rc.2269A>T (p.Thr757Ser)
c.2224A>T (p.Thr742Ser)
c.230-482A>T (n.230-482A>T)
c.*2312A>T (n.*2312A>T)
c.1789A>T (p.Thr597Ser)
c.1378A>T (p.Thr460Ser)
c.1318A>T (p.Thr440Ser)
c.2002A>T (p.Thr668Ser)
c.1972A>T (p.Thr658Ser)
c.1846A>T (p.Thr616Ser)
16g.27363621_27363623delinsACCCA2215170590IL4Rc.2269_2271delinsACC (p.Thr757=)
c.2224_2226delinsACC (p.Thr742=)
c.230-482_230-480delinsACC (n.230-482_230-480delinsACC)
c.*2312_*2314delinsACC (n.*2312_*2314delinsACC)
c.1789_1791delinsACC (p.Thr597=)
c.1378_1380delinsACC (p.Thr460=)
c.1318_1320delinsACC (p.Thr440=)
c.2002_2004delinsACC (p.Thr668=)
c.1972_1974delinsACC (p.Thr658=)
c.1846_1848delinsACC (p.Thr616=)
16g.27363622C>ACA395304826IL4Rc.2270C>A (p.Thr757Asn)
c.2225C>A (p.Thr742Asn)
c.230-481C>A (n.230-481C>A)
c.*2313C>A (n.*2313C>A)
c.1790C>A (p.Thr597Asn)
c.1379C>A (p.Thr460Asn)
c.1319C>A (p.Thr440Asn)
c.2003C>A (p.Thr668Asn)
c.1973C>A (p.Thr658Asn)
c.1847C>A (p.Thr616Asn)
 gnomAD v3 gnomAD v4
16g.27363622C=CA2215170601IL4Rc.2270C= (p.Thr757=)
c.2225C= (p.Thr742=)
c.230-481C= (n.230-481C=)
c.*2313C= (n.*2313C=)
c.1790C= (p.Thr597=)
c.1379C= (p.Thr460=)
c.1319C= (p.Thr440=)
c.2003C= (p.Thr668=)
c.1973C= (p.Thr658=)
c.1847C= (p.Thr616=)
16g.27363622C>GCA395304829IL4Rc.2270C>G (p.Thr757Ser)
c.2225C>G (p.Thr742Ser)
c.230-481C>G (n.230-481C>G)
c.*2313C>G (n.*2313C>G)
c.1790C>G (p.Thr597Ser)
c.1379C>G (p.Thr460Ser)
c.1319C>G (p.Thr440Ser)
c.2003C>G (p.Thr668Ser)
c.1973C>G (p.Thr658Ser)
c.1847C>G (p.Thr616Ser)
16g.27363622C>TCA7974721IL4Rc.2270C>T (p.Thr757Ile)
c.2225C>T (p.Thr742Ile)
c.230-481C>T (n.230-481C>T)
c.*2313C>T (n.*2313C>T)
c.1790C>T (p.Thr597Ile)
c.1379C>T (p.Thr460Ile)
c.1319C>T (p.Thr440Ile)
c.2003C>T (p.Thr668Ile)
c.1973C>T (p.Thr658Ile)
c.1847C>T (p.Thr616Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363627delCA2215170597IL4Rc.2275del (p.Leu759Ter)
c.2230del (p.Leu744Ter)
c.230-476del (n.230-476del)
c.*2318del (n.*2318del)
c.1795del (p.Leu599Ter)
c.1384del (p.Leu462Ter)
c.1324del (p.Leu442Ter)
c.2008del (p.Leu670Ter)
c.1978del (p.Leu660Ter)
c.1852del (p.Leu618Ter)
 dbSNP
16g.27363626_27363627delCA975984006IL4Rc.2274_2275del (p.Leu759GlufsTer?)
c.2229_2230del (p.Leu744GlufsTer?)
c.230-477_230-476del (n.230-477_230-476del)
c.*2317_*2318del (n.*2317_*2318del)
c.1794_1795del (p.Leu599GlufsTer?)
c.1383_1384del (p.Leu462GlufsTer?)
c.1323_1324del (p.Leu442GlufsTer?)
c.2007_2008del (p.Leu670GlufsTer?)
c.1977_1978del (p.Leu660GlufsTer?)
c.1851_1852del (p.Leu618GlufsTer?)
 dbSNP gnomAD v3 gnomAD v4
16g.27363623C>ACA494470752IL4Rc.2271C>A (p.Thr757=)
c.2226C>A (p.Thr742=)
c.230-480C>A (n.230-480C>A)
c.*2314C>A (n.*2314C>A)
c.1791C>A (p.Thr597=)
c.1380C>A (p.Thr460=)
c.1320C>A (p.Thr440=)
c.2004C>A (p.Thr668=)
c.1974C>A (p.Thr658=)
c.1848C>A (p.Thr616=)
 gnomAD v4
16g.27363623C=CA2215170604IL4Rc.2271C= (p.Thr757=)
c.2226C= (p.Thr742=)
c.230-480C= (n.230-480C=)
c.*2314C= (n.*2314C=)
c.1791C= (p.Thr597=)
c.1380C= (p.Thr460=)
c.1320C= (p.Thr440=)
c.2004C= (p.Thr668=)
c.1974C= (p.Thr658=)
c.1848C= (p.Thr616=)
16g.27363623C>GCA494470755IL4Rc.2271C>G (p.Thr757=)
c.2226C>G (p.Thr742=)
c.230-480C>G (n.230-480C>G)
c.*2314C>G (n.*2314C>G)
c.1791C>G (p.Thr597=)
c.1380C>G (p.Thr460=)
c.1320C>G (p.Thr440=)
c.2004C>G (p.Thr668=)
c.1974C>G (p.Thr658=)
c.1848C>G (p.Thr616=)
16g.27363623C>TCA494470754IL4Rc.2271C>T (p.Thr757=)
c.2226C>T (p.Thr742=)
c.230-480C>T (n.230-480C>T)
c.*2314C>T (n.*2314C>T)
c.1791C>T (p.Thr597=)
c.1380C>T (p.Thr460=)
c.1320C>T (p.Thr440=)
c.2004C>T (p.Thr668=)
c.1974C>T (p.Thr658=)
c.1848C>T (p.Thr616=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.27363624C>ACA395304830IL4Rc.2272C>A (p.Pro758Thr)
c.2227C>A (p.Pro743Thr)
c.230-479C>A (n.230-479C>A)
c.*2315C>A (n.*2315C>A)
c.1792C>A (p.Pro598Thr)
c.1381C>A (p.Pro461Thr)
c.1321C>A (p.Pro441Thr)
c.2005C>A (p.Pro669Thr)
c.1975C>A (p.Pro659Thr)
c.1849C>A (p.Pro617Thr)
16g.27363624C>GCA395304835IL4Rc.2272C>G (p.Pro758Ala)
c.2227C>G (p.Pro743Ala)
c.230-479C>G (n.230-479C>G)
c.*2315C>G (n.*2315C>G)
c.1792C>G (p.Pro598Ala)
c.1381C>G (p.Pro461Ala)
c.1321C>G (p.Pro441Ala)
c.2005C>G (p.Pro669Ala)
c.1975C>G (p.Pro659Ala)
c.1849C>G (p.Pro617Ala)
16g.27363624C>TCA395304832IL4Rc.2272C>T (p.Pro758Ser)
c.2227C>T (p.Pro743Ser)
c.230-479C>T (n.230-479C>T)
c.*2315C>T (n.*2315C>T)
c.1792C>T (p.Pro598Ser)
c.1381C>T (p.Pro461Ser)
c.1321C>T (p.Pro441Ser)
c.2005C>T (p.Pro669Ser)
c.1975C>T (p.Pro659Ser)
c.1849C>T (p.Pro617Ser)
 gnomAD v4 COSMIC
16g.27363625C>ACA395304837IL4Rc.2273C>A (p.Pro758His)
c.2228C>A (p.Pro743His)
c.230-478C>A (n.230-478C>A)
c.*2316C>A (n.*2316C>A)
c.1793C>A (p.Pro598His)
c.1382C>A (p.Pro461His)
c.1322C>A (p.Pro441His)
c.2006C>A (p.Pro669His)
c.1976C>A (p.Pro659His)
c.1850C>A (p.Pro617His)
16g.27363625C=CA2215170611IL4Rc.2273C= (p.Pro758=)
c.2228C= (p.Pro743=)
c.230-478C= (n.230-478C=)
c.*2316C= (n.*2316C=)
c.1793C= (p.Pro598=)
c.1382C= (p.Pro461=)
c.1322C= (p.Pro441=)
c.2006C= (p.Pro669=)
c.1976C= (p.Pro659=)
c.1850C= (p.Pro617=)
16g.27363625C>GCA395304841IL4Rc.2273C>G (p.Pro758Arg)
c.2228C>G (p.Pro743Arg)
c.230-478C>G (n.230-478C>G)
c.*2316C>G (n.*2316C>G)
c.1793C>G (p.Pro598Arg)
c.1382C>G (p.Pro461Arg)
c.1322C>G (p.Pro441Arg)
c.2006C>G (p.Pro669Arg)
c.1976C>G (p.Pro659Arg)
c.1850C>G (p.Pro617Arg)
16g.27363625C>TCA395304839IL4Rc.2273C>T (p.Pro758Leu)
c.2228C>T (p.Pro743Leu)
c.230-478C>T (n.230-478C>T)
c.*2316C>T (n.*2316C>T)
c.1793C>T (p.Pro598Leu)
c.1382C>T (p.Pro461Leu)
c.1322C>T (p.Pro441Leu)
c.2006C>T (p.Pro669Leu)
c.1976C>T (p.Pro659Leu)
c.1850C>T (p.Pro617Leu)
 dbSNP gnomAD v4
16g.27363626C>ACA494470761IL4Rc.2274C>A (p.Pro758=)
c.2229C>A (p.Pro743=)
c.230-477C>A (n.230-477C>A)
c.*2317C>A (n.*2317C>A)
c.1794C>A (p.Pro598=)
c.1383C>A (p.Pro461=)
c.1323C>A (p.Pro441=)
c.2007C>A (p.Pro669=)
c.1977C>A (p.Pro659=)
c.1851C>A (p.Pro617=)
16g.27363626C=CA2215170622IL4Rc.2274C= (p.Pro758=)
c.2229C= (p.Pro743=)
c.230-477C= (n.230-477C=)
c.*2317C= (n.*2317C=)
c.1794C= (p.Pro598=)
c.1383C= (p.Pro461=)
c.1323C= (p.Pro441=)
c.2007C= (p.Pro669=)
c.1977C= (p.Pro659=)
c.1851C= (p.Pro617=)
16g.27363626C>GCA494470759IL4Rc.2274C>G (p.Pro758=)
c.2229C>G (p.Pro743=)
c.230-477C>G (n.230-477C>G)
c.*2317C>G (n.*2317C>G)
c.1794C>G (p.Pro598=)
c.1383C>G (p.Pro461=)
c.1323C>G (p.Pro441=)
c.2007C>G (p.Pro669=)
c.1977C>G (p.Pro659=)
c.1851C>G (p.Pro617=)
 dbSNP gnomAD v3 gnomAD v4
16g.27363626C>TCA494470760IL4Rc.2274C>T (p.Pro758=)
c.2229C>T (p.Pro743=)
c.230-477C>T (n.230-477C>T)
c.*2317C>T (n.*2317C>T)
c.1794C>T (p.Pro598=)
c.1383C>T (p.Pro461=)
c.1323C>T (p.Pro441=)
c.2007C>T (p.Pro669=)
c.1977C>T (p.Pro659=)
c.1851C>T (p.Pro617=)
 dbSNP gnomAD v4
16g.27363626_27363628delinsCCTCA2215170619IL4Rc.2274_2276delinsCCT (p.Pro758=)
c.2229_2231delinsCCT (p.Pro743=)
c.230-477_230-475delinsCCT (n.230-477_230-475delinsCCT)
c.*2317_*2319delinsCCT (n.*2317_*2319delinsCCT)
c.1794_1796delinsCCT (p.Pro598=)
c.1383_1385delinsCCT (p.Pro461=)
c.1323_1325delinsCCT (p.Pro441=)
c.2007_2009delinsCCT (p.Pro669=)
c.1977_1979delinsCCT (p.Pro659=)
c.1851_1853delinsCCT (p.Pro617=)
16g.27363627C>ACA395304846IL4Rc.2275C>A (p.Leu759Met)
c.2230C>A (p.Leu744Met)
c.230-476C>A (n.230-476C>A)
c.*2318C>A (n.*2318C>A)
c.1795C>A (p.Leu599Met)
c.1384C>A (p.Leu462Met)
c.1324C>A (p.Leu442Met)
c.2008C>A (p.Leu670Met)
c.1978C>A (p.Leu660Met)
c.1852C>A (p.Leu618Met)
16g.27363627C=CA2215170628IL4Rc.2275C= (p.Leu759=)
c.2230C= (p.Leu744=)
c.230-476C= (n.230-476C=)
c.*2318C= (n.*2318C=)
c.1795C= (p.Leu599=)
c.1384C= (p.Leu462=)
c.1324C= (p.Leu442=)
c.2008C= (p.Leu670=)
c.1978C= (p.Leu660=)
c.1852C= (p.Leu618=)
16g.27363627C>GCA395304848IL4Rc.2275C>G (p.Leu759Val)
c.2230C>G (p.Leu744Val)
c.230-476C>G (n.230-476C>G)
c.*2318C>G (n.*2318C>G)
c.1795C>G (p.Leu599Val)
c.1384C>G (p.Leu462Val)
c.1324C>G (p.Leu442Val)
c.2008C>G (p.Leu670Val)
c.1978C>G (p.Leu660Val)
c.1852C>G (p.Leu618Val)
16g.27363627C>TCA7974724IL4Rc.2275C>T (p.Leu759=)
c.2230C>T (p.Leu744=)
c.230-476C>T (n.230-476C>T)
c.*2318C>T (n.*2318C>T)
c.1795C>T (p.Leu599=)
c.1384C>T (p.Leu462=)
c.1324C>T (p.Leu442=)
c.2008C>T (p.Leu670=)
c.1978C>T (p.Leu660=)
c.1852C>T (p.Leu618=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363627_27363628delCA7974722IL4Rc.2275_2276del (p.Leu759GlufsTer?)
c.2230_2231del (p.Leu744GlufsTer?)
c.230-476_230-475del (n.230-476_230-475del)
c.*2318_*2319del (n.*2318_*2319del)
c.1795_1796del (p.Leu599GlufsTer?)
c.1384_1385del (p.Leu462GlufsTer?)
c.1324_1325del (p.Leu442GlufsTer?)
c.2008_2009del (p.Leu670GlufsTer?)
c.1978_1979del (p.Leu660GlufsTer?)
c.1852_1853del (p.Leu618GlufsTer?)
 dbSNP ExAC
16g.27363627_27363628delinsCTCA2215170625IL4Rc.2275_2276delinsCT (p.Leu759=)
c.2230_2231delinsCT (p.Leu744=)
c.230-476_230-475delinsCT (n.230-476_230-475delinsCT)
c.*2318_*2319delinsCT (n.*2318_*2319delinsCT)
c.1795_1796delinsCT (p.Leu599=)
c.1384_1385delinsCT (p.Leu462=)
c.1324_1325delinsCT (p.Leu442=)
c.2008_2009delinsCT (p.Leu670=)
c.1978_1979delinsCT (p.Leu660=)
c.1852_1853delinsCT (p.Leu618=)
16g.27363627_27363633delinsCTGAGGGCA2215170627IL4Rc.2275_2281delinsCTGAGGG (p.Leu759=)
c.2230_2236delinsCTGAGGG (p.Leu744=)
c.230-476_230-470delinsCTGAGGG (n.230-476_230-470delinsCTGAGGG)
c.*2318_*2324delinsCTGAGGG (n.*2318_*2324delinsCTGAGGG)
c.1795_1801delinsCTGAGGG (p.Leu599=)
c.1384_1390delinsCTGAGGG (p.Leu462=)
c.1324_1330delinsCTGAGGG (p.Leu442=)
c.2008_2014delinsCTGAGGG (p.Leu670=)
c.1978_1984delinsCTGAGGG (p.Leu660=)
c.1852_1858delinsCTGAGGG (p.Leu618=)
16g.27363628delCA7974723IL4Rc.2276del (p.Leu759ArgfsTer?)
c.2231del (p.Leu744ArgfsTer?)
c.230-475del (n.230-475del)
c.*2319del (n.*2319del)
c.1796del (p.Leu599ArgfsTer?)
c.1385del (p.Leu462ArgfsTer?)
c.1325del (p.Leu442ArgfsTer?)
c.2009del (p.Leu670ArgfsTer?)
c.1979del (p.Leu660ArgfsTer?)
c.1853del (p.Leu618ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363628T>ACA279687873IL4Rc.2276T>A (p.Leu759Gln)
c.2231T>A (p.Leu744Gln)
c.230-475T>A (n.230-475T>A)
c.*2319T>A (n.*2319T>A)
c.1796T>A (p.Leu599Gln)
c.1385T>A (p.Leu462Gln)
c.1325T>A (p.Leu442Gln)
c.2009T>A (p.Leu670Gln)
c.1979T>A (p.Leu660Gln)
c.1853T>A (p.Leu618Gln)
 dbSNP
16g.27363628T>CCA395304855IL4Rc.2276T>C (p.Leu759Pro)
c.2231T>C (p.Leu744Pro)
c.230-475T>C (n.230-475T>C)
c.*2319T>C (n.*2319T>C)
c.1796T>C (p.Leu599Pro)
c.1385T>C (p.Leu462Pro)
c.1325T>C (p.Leu442Pro)
c.2009T>C (p.Leu670Pro)
c.1979T>C (p.Leu660Pro)
c.1853T>C (p.Leu618Pro)
 gnomAD v4
16g.27363628T>GCA395304857IL4Rc.2276T>G (p.Leu759Arg)
c.2231T>G (p.Leu744Arg)
c.230-475T>G (n.230-475T>G)
c.*2319T>G (n.*2319T>G)
c.1796T>G (p.Leu599Arg)
c.1385T>G (p.Leu462Arg)
c.1325T>G (p.Leu442Arg)
c.2009T>G (p.Leu670Arg)
c.1979T>G (p.Leu660Arg)
c.1853T>G (p.Leu618Arg)
16g.27363628T=CA2215170640IL4Rc.2276T= (p.Leu759=)
c.2231T= (p.Leu744=)
c.230-475T= (n.230-475T=)
c.*2319T= (n.*2319T=)
c.1796T= (p.Leu599=)
c.1385T= (p.Leu462=)
c.1325T= (p.Leu442=)
c.2009T= (p.Leu670=)
c.1979T= (p.Leu660=)
c.1853T= (p.Leu618=)
16g.27363628_27363633delCA2215170639IL4Rc.2276_2281del (p.Leu759_Ala761delinsPro)
c.2231_2236del (p.Leu744_Ala746delinsPro)
c.230-475_230-470del (n.230-475_230-470del)
c.*2319_*2324del (n.*2319_*2324del)
c.1796_1801del (p.Leu599_Ala601delinsPro)
c.1385_1390del (p.Leu462_Ala464delinsPro)
c.1325_1330del (p.Leu442_Ala444delinsPro)
c.2009_2014del (p.Leu670_Ala672delinsPro)
c.1979_1984del (p.Leu660_Ala662delinsPro)
c.1853_1858del (p.Leu618_Ala620delinsPro)
 dbSNP
16g.27363629G>ACA494470765IL4Rc.2277G>A (p.Leu759=)
c.2232G>A (p.Leu744=)
c.230-474G>A (n.230-474G>A)
c.*2320G>A (n.*2320G>A)
c.1797G>A (p.Leu599=)
c.1386G>A (p.Leu462=)
c.1326G>A (p.Leu442=)
c.2010G>A (p.Leu670=)
c.1980G>A (p.Leu660=)
c.1854G>A (p.Leu618=)
16g.27363629G>CCA494470768IL4Rc.2277G>C (p.Leu759=)
c.2232G>C (p.Leu744=)
c.230-474G>C (n.230-474G>C)
c.*2320G>C (n.*2320G>C)
c.1797G>C (p.Leu599=)
c.1386G>C (p.Leu462=)
c.1326G>C (p.Leu442=)
c.2010G>C (p.Leu670=)
c.1980G>C (p.Leu660=)
c.1854G>C (p.Leu618=)
16g.27363629G>TCA494470771IL4Rc.2277G>T (p.Leu759=)
c.2232G>T (p.Leu744=)
c.230-474G>T (n.230-474G>T)
c.*2320G>T (n.*2320G>T)
c.1797G>T (p.Leu599=)
c.1386G>T (p.Leu462=)
c.1326G>T (p.Leu442=)
c.2010G>T (p.Leu670=)
c.1980G>T (p.Leu660=)
c.1854G>T (p.Leu618=)
16g.27363630A=CA2215170649IL4Rc.2278A= (p.Arg760=)
c.2233A= (p.Arg745=)
c.230-473A= (n.230-473A=)
c.*2321A= (n.*2321A=)
c.1798A= (p.Arg600=)
c.1387A= (p.Arg463=)
c.1327A= (p.Arg443=)
c.2011A= (p.Arg671=)
c.1981A= (p.Arg661=)
c.1855A= (p.Arg619=)
16g.27363630A>CCA494470772IL4Rc.2278A>C (p.Arg760=)
c.2233A>C (p.Arg745=)
c.230-473A>C (n.230-473A>C)
c.*2321A>C (n.*2321A>C)
c.1798A>C (p.Arg600=)
c.1387A>C (p.Arg463=)
c.1327A>C (p.Arg443=)
c.2011A>C (p.Arg671=)
c.1981A>C (p.Arg661=)
c.1855A>C (p.Arg619=)
16g.27363630A>GCA7974725IL4Rc.2278A>G (p.Arg760Gly)
c.2233A>G (p.Arg745Gly)
c.230-473A>G (n.230-473A>G)
c.*2321A>G (n.*2321A>G)
c.1798A>G (p.Arg600Gly)
c.1387A>G (p.Arg463Gly)
c.1327A>G (p.Arg443Gly)
c.2011A>G (p.Arg671Gly)
c.1981A>G (p.Arg661Gly)
c.1855A>G (p.Arg619Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363630A>TCA395304861IL4Rc.2278A>T (p.Arg760Trp)
c.2233A>T (p.Arg745Trp)
c.230-473A>T (n.230-473A>T)
c.*2321A>T (n.*2321A>T)
c.1798A>T (p.Arg600Trp)
c.1387A>T (p.Arg463Trp)
c.1327A>T (p.Arg443Trp)
c.2011A>T (p.Arg671Trp)
c.1981A>T (p.Arg661Trp)
c.1855A>T (p.Arg619Trp)
16g.27363631G>ACA395304863IL4Rc.2279G>A (p.Arg760Lys)
c.2234G>A (p.Arg745Lys)
c.230-472G>A (n.230-472G>A)
c.*2322G>A (n.*2322G>A)
c.1799G>A (p.Arg600Lys)
c.1388G>A (p.Arg463Lys)
c.1328G>A (p.Arg443Lys)
c.2012G>A (p.Arg671Lys)
c.1982G>A (p.Arg661Lys)
c.1856G>A (p.Arg619Lys)
16g.27363631G>CCA395304866IL4Rc.2279G>C (p.Arg760Thr)
c.2234G>C (p.Arg745Thr)
c.230-472G>C (n.230-472G>C)
c.*2322G>C (n.*2322G>C)
c.1799G>C (p.Arg600Thr)
c.1388G>C (p.Arg463Thr)
c.1328G>C (p.Arg443Thr)
c.2012G>C (p.Arg671Thr)
c.1982G>C (p.Arg661Thr)
c.1856G>C (p.Arg619Thr)
16g.27363631G>TCA395304868IL4Rc.2279G>T (p.Arg760Met)
c.2234G>T (p.Arg745Met)
c.230-472G>T (n.230-472G>T)
c.*2322G>T (n.*2322G>T)
c.1799G>T (p.Arg600Met)
c.1388G>T (p.Arg463Met)
c.1328G>T (p.Arg443Met)
c.2012G>T (p.Arg671Met)
c.1982G>T (p.Arg661Met)
c.1856G>T (p.Arg619Met)
16g.27363632G>ACA494470777IL4Rc.2280G>A (p.Arg760=)
c.2235G>A (p.Arg745=)
c.230-471G>A (n.230-471G>A)
c.*2323G>A (n.*2323G>A)
c.1800G>A (p.Arg600=)
c.1389G>A (p.Arg463=)
c.1329G>A (p.Arg443=)
c.2013G>A (p.Arg671=)
c.1983G>A (p.Arg661=)
c.1857G>A (p.Arg619=)
16g.27363632G>CCA395304871IL4Rc.2280G>C (p.Arg760Ser)
c.2235G>C (p.Arg745Ser)
c.230-471G>C (n.230-471G>C)
c.*2323G>C (n.*2323G>C)
c.1800G>C (p.Arg600Ser)
c.1389G>C (p.Arg463Ser)
c.1329G>C (p.Arg443Ser)
c.2013G>C (p.Arg671Ser)
c.1983G>C (p.Arg661Ser)
c.1857G>C (p.Arg619Ser)
16g.27363632G>TCA395304873IL4Rc.2280G>T (p.Arg760Ser)
c.2235G>T (p.Arg745Ser)
c.230-471G>T (n.230-471G>T)
c.*2323G>T (n.*2323G>T)
c.1800G>T (p.Arg600Ser)
c.1389G>T (p.Arg463Ser)
c.1329G>T (p.Arg443Ser)
c.2013G>T (p.Arg671Ser)
c.1983G>T (p.Arg661Ser)
c.1857G>T (p.Arg619Ser)
16g.27363633G>ACA395304876IL4Rc.2281G>A (p.Ala761Thr)
c.2236G>A (p.Ala746Thr)
c.230-470G>A (n.230-470G>A)
c.*2324G>A (n.*2324G>A)
c.1801G>A (p.Ala601Thr)
c.1390G>A (p.Ala464Thr)
c.1330G>A (p.Ala444Thr)
c.2014G>A (p.Ala672Thr)
c.1984G>A (p.Ala662Thr)
c.1858G>A (p.Ala620Thr)
 COSMIC
16g.27363633G>CCA395304879IL4Rc.2281G>C (p.Ala761Pro)
c.2236G>C (p.Ala746Pro)
c.230-470G>C (n.230-470G>C)
c.*2324G>C (n.*2324G>C)
c.1801G>C (p.Ala601Pro)
c.1390G>C (p.Ala464Pro)
c.1330G>C (p.Ala444Pro)
c.2014G>C (p.Ala672Pro)
c.1984G>C (p.Ala662Pro)
c.1858G>C (p.Ala620Pro)
16g.27363633G>TCA395304881IL4Rc.2281G>T (p.Ala761Ser)
c.2236G>T (p.Ala746Ser)
c.230-470G>T (n.230-470G>T)
c.*2324G>T (n.*2324G>T)
c.1801G>T (p.Ala601Ser)
c.1390G>T (p.Ala464Ser)
c.1330G>T (p.Ala444Ser)
c.2014G>T (p.Ala672Ser)
c.1984G>T (p.Ala662Ser)
c.1858G>T (p.Ala620Ser)
16g.27363634C>ACA395304884IL4Rc.2282C>A (p.Ala761Asp)
c.2237C>A (p.Ala746Asp)
c.230-469C>A (n.230-469C>A)
c.*2325C>A (n.*2325C>A)
c.1802C>A (p.Ala601Asp)
c.1391C>A (p.Ala464Asp)
c.1331C>A (p.Ala444Asp)
c.2015C>A (p.Ala672Asp)
c.1985C>A (p.Ala662Asp)
c.1859C>A (p.Ala620Asp)
16g.27363634C=CA2215170656IL4Rc.2282C= (p.Ala761=)
c.2237C= (p.Ala746=)
c.230-469C= (n.230-469C=)
c.*2325C= (n.*2325C=)
c.1802C= (p.Ala601=)
c.1391C= (p.Ala464=)
c.1331C= (p.Ala444=)
c.2015C= (p.Ala672=)
c.1985C= (p.Ala662=)
c.1859C= (p.Ala620=)
16g.27363634C>GCA395304886IL4Rc.2282C>G (p.Ala761Gly)
c.2237C>G (p.Ala746Gly)
c.230-469C>G (n.230-469C>G)
c.*2325C>G (n.*2325C>G)
c.1802C>G (p.Ala601Gly)
c.1391C>G (p.Ala464Gly)
c.1331C>G (p.Ala444Gly)
c.2015C>G (p.Ala672Gly)
c.1985C>G (p.Ala662Gly)
c.1859C>G (p.Ala620Gly)
 dbSNP
16g.27363634C>TCA7974726IL4Rc.2282C>T (p.Ala761Val)
c.2237C>T (p.Ala746Val)
c.230-469C>T (n.230-469C>T)
c.*2325C>T (n.*2325C>T)
c.1802C>T (p.Ala601Val)
c.1391C>T (p.Ala464Val)
c.1331C>T (p.Ala444Val)
c.2015C>T (p.Ala672Val)
c.1985C>T (p.Ala662Val)
c.1859C>T (p.Ala620Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363635C>ACA494470782IL4Rc.2283C>A (p.Ala761=)
c.2238C>A (p.Ala746=)
c.230-468C>A (n.230-468C>A)
c.*2326C>A (n.*2326C>A)
c.1803C>A (p.Ala601=)
c.1392C>A (p.Ala464=)
c.1332C>A (p.Ala444=)
c.2016C>A (p.Ala672=)
c.1986C>A (p.Ala662=)
c.1860C>A (p.Ala620=)
16g.27363635C=CA2215170659IL4Rc.2283C= (p.Ala761=)
c.2238C= (p.Ala746=)
c.230-468C= (n.230-468C=)
c.*2326C= (n.*2326C=)
c.1803C= (p.Ala601=)
c.1392C= (p.Ala464=)
c.1332C= (p.Ala444=)
c.2016C= (p.Ala672=)
c.1986C= (p.Ala662=)
c.1860C= (p.Ala620=)
16g.27363635C>GCA494470784IL4Rc.2283C>G (p.Ala761=)
c.2238C>G (p.Ala746=)
c.230-468C>G (n.230-468C>G)
c.*2326C>G (n.*2326C>G)
c.1803C>G (p.Ala601=)
c.1392C>G (p.Ala464=)
c.1332C>G (p.Ala444=)
c.2016C>G (p.Ala672=)
c.1986C>G (p.Ala662=)
c.1860C>G (p.Ala620=)
16g.27363635C>TCA494470785IL4Rc.2283C>T (p.Ala761=)
c.2238C>T (p.Ala746=)
c.230-468C>T (n.230-468C>T)
c.*2326C>T (n.*2326C>T)
c.1803C>T (p.Ala601=)
c.1392C>T (p.Ala464=)
c.1332C>T (p.Ala444=)
c.2016C>T (p.Ala672=)
c.1986C>T (p.Ala662=)
c.1860C>T (p.Ala620=)
 dbSNP gnomAD v2 gnomAD v4
16g.27363636C>ACA395304889IL4Rc.2284C>A (p.Pro762Thr)
c.2239C>A (p.Pro747Thr)
c.230-467C>A (n.230-467C>A)
c.*2327C>A (n.*2327C>A)
c.1804C>A (p.Pro602Thr)
c.1393C>A (p.Pro465Thr)
c.1333C>A (p.Pro445Thr)
c.2017C>A (p.Pro673Thr)
c.1987C>A (p.Pro663Thr)
c.1861C>A (p.Pro621Thr)
16g.27363636C=CA2215170670IL4Rc.2284C= (p.Pro762=)
c.2239C= (p.Pro747=)
c.230-467C= (n.230-467C=)
c.*2327C= (n.*2327C=)
c.1804C= (p.Pro602=)
c.1393C= (p.Pro465=)
c.1333C= (p.Pro445=)
c.2017C= (p.Pro673=)
c.1987C= (p.Pro663=)
c.1861C= (p.Pro621=)
16g.27363636C>GCA395304891IL4Rc.2284C>G (p.Pro762Ala)
c.2239C>G (p.Pro747Ala)
c.230-467C>G (n.230-467C>G)
c.*2327C>G (n.*2327C>G)
c.1804C>G (p.Pro602Ala)
c.1393C>G (p.Pro465Ala)
c.1333C>G (p.Pro445Ala)
c.2017C>G (p.Pro673Ala)
c.1987C>G (p.Pro663Ala)
c.1861C>G (p.Pro621Ala)
16g.27363636C>TCA395304895IL4Rc.2284C>T (p.Pro762Ser)
c.2239C>T (p.Pro747Ser)
c.230-467C>T (n.230-467C>T)
c.*2327C>T (n.*2327C>T)
c.1804C>T (p.Pro602Ser)
c.1393C>T (p.Pro465Ser)
c.1333C>T (p.Pro445Ser)
c.2017C>T (p.Pro673Ser)
c.1987C>T (p.Pro663Ser)
c.1861C>T (p.Pro621Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.27363637C>ACA395304906IL4Rc.2285C>A (p.Pro762Gln)
c.2240C>A (p.Pro747Gln)
c.230-466C>A (n.230-466C>A)
c.*2328C>A (n.*2328C>A)
c.1805C>A (p.Pro602Gln)
c.1394C>A (p.Pro465Gln)
c.1334C>A (p.Pro445Gln)
c.2018C>A (p.Pro673Gln)
c.1988C>A (p.Pro663Gln)
c.1862C>A (p.Pro621Gln)
16g.27363637C>GCA395304916IL4Rc.2285C>G (p.Pro762Arg)
c.2240C>G (p.Pro747Arg)
c.230-466C>G (n.230-466C>G)
c.*2328C>G (n.*2328C>G)
c.1805C>G (p.Pro602Arg)
c.1394C>G (p.Pro465Arg)
c.1334C>G (p.Pro445Arg)
c.2018C>G (p.Pro673Arg)
c.1988C>G (p.Pro663Arg)
c.1862C>G (p.Pro621Arg)
16g.27363637C>TCA395304921IL4Rc.2285C>T (p.Pro762Leu)
c.2240C>T (p.Pro747Leu)
c.230-466C>T (n.230-466C>T)
c.*2328C>T (n.*2328C>T)
c.1805C>T (p.Pro602Leu)
c.1394C>T (p.Pro465Leu)
c.1334C>T (p.Pro445Leu)
c.2018C>T (p.Pro673Leu)
c.1988C>T (p.Pro663Leu)
c.1862C>T (p.Pro621Leu)
 gnomAD v4
16g.27363638A>CCA494470790IL4Rc.2286A>C (p.Pro762=)
c.2241A>C (p.Pro747=)
c.230-465A>C (n.230-465A>C)
c.*2329A>C (n.*2329A>C)
c.1806A>C (p.Pro602=)
c.1395A>C (p.Pro465=)
c.1335A>C (p.Pro445=)
c.2019A>C (p.Pro673=)
c.1989A>C (p.Pro663=)
c.1863A>C (p.Pro621=)
16g.27363638A>GCA494470793IL4Rc.2286A>G (p.Pro762=)
c.2241A>G (p.Pro747=)
c.230-465A>G (n.230-465A>G)
c.*2329A>G (n.*2329A>G)
c.1806A>G (p.Pro602=)
c.1395A>G (p.Pro465=)
c.1335A>G (p.Pro445=)
c.2019A>G (p.Pro673=)
c.1989A>G (p.Pro663=)
c.1863A>G (p.Pro621=)
16g.27363638A>TCA494470791IL4Rc.2286A>T (p.Pro762=)
c.2241A>T (p.Pro747=)
c.230-465A>T (n.230-465A>T)
c.*2329A>T (n.*2329A>T)
c.1806A>T (p.Pro602=)
c.1395A>T (p.Pro465=)
c.1335A>T (p.Pro445=)
c.2019A>T (p.Pro673=)
c.1989A>T (p.Pro663=)
c.1863A>T (p.Pro621=)
16g.27363639G>ACA7974727IL4Rc.2287G>A (p.Asp763Asn)
c.2242G>A (p.Asp748Asn)
c.230-464G>A (n.230-464G>A)
c.*2330G>A (n.*2330G>A)
c.1807G>A (p.Asp603Asn)
c.1396G>A (p.Asp466Asn)
c.1336G>A (p.Asp446Asn)
c.2020G>A (p.Asp674Asn)
c.1990G>A (p.Asp664Asn)
c.1864G>A (p.Asp622Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363639G>CCA395304924IL4Rc.2287G>C (p.Asp763His)
c.2242G>C (p.Asp748His)
c.230-464G>C (n.230-464G>C)
c.*2330G>C (n.*2330G>C)
c.1807G>C (p.Asp603His)
c.1396G>C (p.Asp466His)
c.1336G>C (p.Asp446His)
c.2020G>C (p.Asp674His)
c.1990G>C (p.Asp664His)
c.1864G>C (p.Asp622His)
16g.27363639G=CA2215170677IL4Rc.2287G= (p.Asp763=)
c.2242G= (p.Asp748=)
c.230-464G= (n.230-464G=)
c.*2330G= (n.*2330G=)
c.1807G= (p.Asp603=)
c.1396G= (p.Asp466=)
c.1336G= (p.Asp446=)
c.2020G= (p.Asp674=)
c.1990G= (p.Asp664=)
c.1864G= (p.Asp622=)
16g.27363639G>TCA395304923IL4Rc.2287G>T (p.Asp763Tyr)
c.2242G>T (p.Asp748Tyr)
c.230-464G>T (n.230-464G>T)
c.*2330G>T (n.*2330G>T)
c.1807G>T (p.Asp603Tyr)
c.1396G>T (p.Asp466Tyr)
c.1336G>T (p.Asp446Tyr)
c.2020G>T (p.Asp674Tyr)
c.1990G>T (p.Asp664Tyr)
c.1864G>T (p.Asp622Tyr)
16g.27363640A=CA2215170681IL4Rc.2288A= (p.Asp763=)
c.2243A= (p.Asp748=)
c.230-463A= (n.230-463A=)
c.*2331A= (n.*2331A=)
c.1808A= (p.Asp603=)
c.1397A= (p.Asp466=)
c.1337A= (p.Asp446=)
c.2021A= (p.Asp674=)
c.1991A= (p.Asp664=)
c.1865A= (p.Asp622=)
16g.27363640A>CCA395304933IL4Rc.2288A>C (p.Asp763Ala)
c.2243A>C (p.Asp748Ala)
c.230-463A>C (n.230-463A>C)
c.*2331A>C (n.*2331A>C)
c.1808A>C (p.Asp603Ala)
c.1397A>C (p.Asp466Ala)
c.1337A>C (p.Asp446Ala)
c.2021A>C (p.Asp674Ala)
c.1991A>C (p.Asp664Ala)
c.1865A>C (p.Asp622Ala)
 gnomAD v3 gnomAD v4
16g.27363640A>GCA395304929IL4Rc.2288A>G (p.Asp763Gly)
c.2243A>G (p.Asp748Gly)
c.230-463A>G (n.230-463A>G)
c.*2331A>G (n.*2331A>G)
c.1808A>G (p.Asp603Gly)
c.1397A>G (p.Asp466Gly)
c.1337A>G (p.Asp446Gly)
c.2021A>G (p.Asp674Gly)
c.1991A>G (p.Asp664Gly)
c.1865A>G (p.Asp622Gly)
 gnomAD v4
16g.27363640A>TCA395304931IL4Rc.2288A>T (p.Asp763Val)
c.2243A>T (p.Asp748Val)
c.230-463A>T (n.230-463A>T)
c.*2331A>T (n.*2331A>T)
c.1808A>T (p.Asp603Val)
c.1397A>T (p.Asp466Val)
c.1337A>T (p.Asp446Val)
c.2021A>T (p.Asp674Val)
c.1991A>T (p.Asp664Val)
c.1865A>T (p.Asp622Val)
 dbSNP
16g.27363641C>ACA395304937IL4Rc.2289C>A (p.Asp763Glu)
c.2244C>A (p.Asp748Glu)
c.230-462C>A (n.230-462C>A)
c.*2332C>A (n.*2332C>A)
c.1809C>A (p.Asp603Glu)
c.1398C>A (p.Asp466Glu)
c.1338C>A (p.Asp446Glu)
c.2022C>A (p.Asp674Glu)
c.1992C>A (p.Asp664Glu)
c.1866C>A (p.Asp622Glu)
 gnomAD v4
16g.27363641C=CA2215170686IL4Rc.2289C= (p.Asp763=)
c.2244C= (p.Asp748=)
c.230-462C= (n.230-462C=)
c.*2332C= (n.*2332C=)
c.1809C= (p.Asp603=)
c.1398C= (p.Asp466=)
c.1338C= (p.Asp446=)
c.2022C= (p.Asp674=)
c.1992C= (p.Asp664=)
c.1866C= (p.Asp622=)
16g.27363641C>GCA395304940IL4Rc.2289C>G (p.Asp763Glu)
c.2244C>G (p.Asp748Glu)
c.230-462C>G (n.230-462C>G)
c.*2332C>G (n.*2332C>G)
c.1809C>G (p.Asp603Glu)
c.1398C>G (p.Asp466Glu)
c.1338C>G (p.Asp446Glu)
c.2022C>G (p.Asp674Glu)
c.1992C>G (p.Asp664Glu)
c.1866C>G (p.Asp622Glu)
16g.27363641C>TCA494470794IL4Rc.2289C>T (p.Asp763=)
c.2244C>T (p.Asp748=)
c.230-462C>T (n.230-462C>T)
c.*2332C>T (n.*2332C>T)
c.1809C>T (p.Asp603=)
c.1398C>T (p.Asp466=)
c.1338C>T (p.Asp446=)
c.2022C>T (p.Asp674=)
c.1992C>T (p.Asp664=)
c.1866C>T (p.Asp622=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363642C>ACA395304942IL4Rc.2290C>A (p.Pro764Thr)
c.2245C>A (p.Pro749Thr)
c.230-461C>A (n.230-461C>A)
c.*2333C>A (n.*2333C>A)
c.1810C>A (p.Pro604Thr)
c.1399C>A (p.Pro467Thr)
c.1339C>A (p.Pro447Thr)
c.2023C>A (p.Pro675Thr)
c.1993C>A (p.Pro665Thr)
c.1867C>A (p.Pro623Thr)
16g.27363642C=CA2215170695IL4Rc.2290C= (p.Pro764=)
c.2245C= (p.Pro749=)
c.230-461C= (n.230-461C=)
c.*2333C= (n.*2333C=)
c.1810C= (p.Pro604=)
c.1399C= (p.Pro467=)
c.1339C= (p.Pro447=)
c.2023C= (p.Pro675=)
c.1993C= (p.Pro665=)
c.1867C= (p.Pro623=)
16g.27363642C>GCA395304945IL4Rc.2290C>G (p.Pro764Ala)
c.2245C>G (p.Pro749Ala)
c.230-461C>G (n.230-461C>G)
c.*2333C>G (n.*2333C>G)
c.1810C>G (p.Pro604Ala)
c.1399C>G (p.Pro467Ala)
c.1339C>G (p.Pro447Ala)
c.2023C>G (p.Pro675Ala)
c.1993C>G (p.Pro665Ala)
c.1867C>G (p.Pro623Ala)
16g.27363642C>TCA7974728IL4Rc.2290C>T (p.Pro764Ser)
c.2245C>T (p.Pro749Ser)
c.230-461C>T (n.230-461C>T)
c.*2333C>T (n.*2333C>T)
c.1810C>T (p.Pro604Ser)
c.1399C>T (p.Pro467Ser)
c.1339C>T (p.Pro447Ser)
c.2023C>T (p.Pro675Ser)
c.1993C>T (p.Pro665Ser)
c.1867C>T (p.Pro623Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363643C>ACA395304953IL4Rc.2291C>A (p.Pro764His)
c.2246C>A (p.Pro749His)
c.230-460C>A (n.230-460C>A)
c.*2334C>A (n.*2334C>A)
c.1811C>A (p.Pro604His)
c.1400C>A (p.Pro467His)
c.1340C>A (p.Pro447His)
c.2024C>A (p.Pro675His)
c.1994C>A (p.Pro665His)
c.1868C>A (p.Pro623His)
 dbSNP
16g.27363643C=CA2215170702IL4Rc.2291C= (p.Pro764=)
c.2246C= (p.Pro749=)
c.230-460C= (n.230-460C=)
c.*2334C= (n.*2334C=)
c.1811C= (p.Pro604=)
c.1400C= (p.Pro467=)
c.1340C= (p.Pro447=)
c.2024C= (p.Pro675=)
c.1994C= (p.Pro665=)
c.1868C= (p.Pro623=)
16g.27363643C>GCA7974729IL4Rc.2291C>G (p.Pro764Arg)
c.2246C>G (p.Pro749Arg)
c.230-460C>G (n.230-460C>G)
c.*2334C>G (n.*2334C>G)
c.1811C>G (p.Pro604Arg)
c.1400C>G (p.Pro467Arg)
c.1340C>G (p.Pro447Arg)
c.2024C>G (p.Pro675Arg)
c.1994C>G (p.Pro665Arg)
c.1868C>G (p.Pro623Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363643C>TCA279687919IL4Rc.2291C>T (p.Pro764Leu)
c.2246C>T (p.Pro749Leu)
c.230-460C>T (n.230-460C>T)
c.*2334C>T (n.*2334C>T)
c.1811C>T (p.Pro604Leu)
c.1400C>T (p.Pro467Leu)
c.1340C>T (p.Pro447Leu)
c.2024C>T (p.Pro675Leu)
c.1994C>T (p.Pro665Leu)
c.1868C>T (p.Pro623Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.27363644C>ACA494470799IL4Rc.2292C>A (p.Pro764=)
c.2247C>A (p.Pro749=)
c.230-459C>A (n.230-459C>A)
c.*2335C>A (n.*2335C>A)
c.1812C>A (p.Pro604=)
c.1401C>A (p.Pro467=)
c.1341C>A (p.Pro447=)
c.2025C>A (p.Pro675=)
c.1995C>A (p.Pro665=)
c.1869C>A (p.Pro623=)
16g.27363644C=CA2215170705IL4Rc.2292C= (p.Pro764=)
c.2247C= (p.Pro749=)
c.230-459C= (n.230-459C=)
c.*2335C= (n.*2335C=)
c.1812C= (p.Pro604=)
c.1401C= (p.Pro467=)
c.1341C= (p.Pro447=)
c.2025C= (p.Pro675=)
c.1995C= (p.Pro665=)
c.1869C= (p.Pro623=)
16g.27363644C>GCA494470800IL4Rc.2292C>G (p.Pro764=)
c.2247C>G (p.Pro749=)
c.230-459C>G (n.230-459C>G)
c.*2335C>G (n.*2335C>G)
c.1812C>G (p.Pro604=)
c.1401C>G (p.Pro467=)
c.1341C>G (p.Pro447=)
c.2025C>G (p.Pro675=)
c.1995C>G (p.Pro665=)
c.1869C>G (p.Pro623=)
16g.27363644C>TCA7974730IL4Rc.2292C>T (p.Pro764=)
c.2247C>T (p.Pro749=)
c.230-459C>T (n.230-459C>T)
c.*2335C>T (n.*2335C>T)
c.1812C>T (p.Pro604=)
c.1401C>T (p.Pro467=)
c.1341C>T (p.Pro447=)
c.2025C>T (p.Pro675=)
c.1995C>T (p.Pro665=)
c.1869C>T (p.Pro623=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363645T>ACA395304962IL4Rc.2293T>A (p.Ser765Thr)
c.2248T>A (p.Ser750Thr)
c.230-458T>A (n.230-458T>A)
c.*2336T>A (n.*2336T>A)
c.1813T>A (p.Ser605Thr)
c.1402T>A (p.Ser468Thr)
c.1342T>A (p.Ser448Thr)
c.2026T>A (p.Ser676Thr)
c.1996T>A (p.Ser666Thr)
c.1870T>A (p.Ser624Thr)
16g.27363645T>CCA395304966IL4Rc.2293T>C (p.Ser765Pro)
c.2248T>C (p.Ser750Pro)
c.230-458T>C (n.230-458T>C)
c.*2336T>C (n.*2336T>C)
c.1813T>C (p.Ser605Pro)
c.1402T>C (p.Ser468Pro)
c.1342T>C (p.Ser448Pro)
c.2026T>C (p.Ser676Pro)
c.1996T>C (p.Ser666Pro)
c.1870T>C (p.Ser624Pro)
16g.27363645T>GCA395304969IL4Rc.2293T>G (p.Ser765Ala)
c.2248T>G (p.Ser750Ala)
c.230-458T>G (n.230-458T>G)
c.*2336T>G (n.*2336T>G)
c.1813T>G (p.Ser605Ala)
c.1402T>G (p.Ser468Ala)
c.1342T>G (p.Ser448Ala)
c.2026T>G (p.Ser676Ala)
c.1996T>G (p.Ser666Ala)
c.1870T>G (p.Ser624Ala)
16g.27363646C>ACA395304970IL4Rc.2294C>A (p.Ser765Tyr)
c.2249C>A (p.Ser750Tyr)
c.230-457C>A (n.230-457C>A)
c.*2337C>A (n.*2337C>A)
c.1814C>A (p.Ser605Tyr)
c.1403C>A (p.Ser468Tyr)
c.1343C>A (p.Ser448Tyr)
c.2027C>A (p.Ser676Tyr)
c.1997C>A (p.Ser666Tyr)
c.1871C>A (p.Ser624Tyr)
16g.27363646C=CA2215170711IL4Rc.2294C= (p.Ser765=)
c.2249C= (p.Ser750=)
c.230-457C= (n.230-457C=)
c.*2337C= (n.*2337C=)
c.1814C= (p.Ser605=)
c.1403C= (p.Ser468=)
c.1343C= (p.Ser448=)
c.2027C= (p.Ser676=)
c.1997C= (p.Ser666=)
c.1871C= (p.Ser624=)
16g.27363646C>GCA395304975IL4Rc.2294C>G (p.Ser765Cys)
c.2249C>G (p.Ser750Cys)
c.230-457C>G (n.230-457C>G)
c.*2337C>G (n.*2337C>G)
c.1814C>G (p.Ser605Cys)
c.1403C>G (p.Ser468Cys)
c.1343C>G (p.Ser448Cys)
c.2027C>G (p.Ser676Cys)
c.1997C>G (p.Ser666Cys)
c.1871C>G (p.Ser624Cys)
16g.27363646C>TCA395304971IL4Rc.2294C>T (p.Ser765Phe)
c.2249C>T (p.Ser750Phe)
c.230-457C>T (n.230-457C>T)
c.*2337C>T (n.*2337C>T)
c.1814C>T (p.Ser605Phe)
c.1403C>T (p.Ser468Phe)
c.1343C>T (p.Ser448Phe)
c.2027C>T (p.Ser676Phe)
c.1997C>T (p.Ser666Phe)
c.1871C>T (p.Ser624Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.27363647T>ACA494470807IL4Rc.2295T>A (p.Ser765=)
c.2250T>A (p.Ser750=)
c.230-456T>A (n.230-456T>A)
c.*2338T>A (n.*2338T>A)
c.1815T>A (p.Ser605=)
c.1404T>A (p.Ser468=)
c.1344T>A (p.Ser448=)
c.2028T>A (p.Ser676=)
c.1998T>A (p.Ser666=)
c.1872T>A (p.Ser624=)
16g.27363647T>CCA494470805IL4Rc.2295T>C (p.Ser765=)
c.2250T>C (p.Ser750=)
c.230-456T>C (n.230-456T>C)
c.*2338T>C (n.*2338T>C)
c.1815T>C (p.Ser605=)
c.1404T>C (p.Ser468=)
c.1344T>C (p.Ser448=)
c.2028T>C (p.Ser676=)
c.1998T>C (p.Ser666=)
c.1872T>C (p.Ser624=)
16g.27363647T>GCA494470806IL4Rc.2295T>G (p.Ser765=)
c.2250T>G (p.Ser750=)
c.230-456T>G (n.230-456T>G)
c.*2338T>G (n.*2338T>G)
c.1815T>G (p.Ser605=)
c.1404T>G (p.Ser468=)
c.1344T>G (p.Ser448=)
c.2028T>G (p.Ser676=)
c.1998T>G (p.Ser666=)
c.1872T>G (p.Ser624=)
16g.27363647dupCA2632431256IL4Rc.2295dup (p.Pro766SerfsTer25)
c.2250dup (p.Pro751SerfsTer25)
c.230-456dup (n.230-456dup)
c.*2338dup (n.*2338dup)
c.1815dup (p.Pro606SerfsTer25)
c.1404dup (p.Pro469SerfsTer25)
c.1344dup (p.Pro449SerfsTer25)
c.2028dup (p.Pro677SerfsTer25)
c.1998dup (p.Pro667SerfsTer25)
c.1872dup (p.Pro625SerfsTer25)
 gnomAD v4
16g.27363648C>ACA395304981IL4Rc.2296C>A (p.Pro766Thr)
c.2251C>A (p.Pro751Thr)
c.230-455C>A (n.230-455C>A)
c.*2339C>A (n.*2339C>A)
c.1816C>A (p.Pro606Thr)
c.1405C>A (p.Pro469Thr)
c.1345C>A (p.Pro449Thr)
c.2029C>A (p.Pro677Thr)
c.1999C>A (p.Pro667Thr)
c.1873C>A (p.Pro625Thr)
16g.27363648C=CA2215170716IL4Rc.2296C= (p.Pro766=)
c.2251C= (p.Pro751=)
c.230-455C= (n.230-455C=)
c.*2339C= (n.*2339C=)
c.1816C= (p.Pro606=)
c.1405C= (p.Pro469=)
c.1345C= (p.Pro449=)
c.2029C= (p.Pro677=)
c.1999C= (p.Pro667=)
c.1873C= (p.Pro625=)
16g.27363648C>GCA395304988IL4Rc.2296C>G (p.Pro766Ala)
c.2251C>G (p.Pro751Ala)
c.230-455C>G (n.230-455C>G)
c.*2339C>G (n.*2339C>G)
c.1816C>G (p.Pro606Ala)
c.1405C>G (p.Pro469Ala)
c.1345C>G (p.Pro449Ala)
c.2029C>G (p.Pro677Ala)
c.1999C>G (p.Pro667Ala)
c.1873C>G (p.Pro625Ala)
16g.27363648C>TCA395304990IL4Rc.2296C>T (p.Pro766Ser)
c.2251C>T (p.Pro751Ser)
c.230-455C>T (n.230-455C>T)
c.*2339C>T (n.*2339C>T)
c.1816C>T (p.Pro606Ser)
c.1405C>T (p.Pro469Ser)
c.1345C>T (p.Pro449Ser)
c.2029C>T (p.Pro677Ser)
c.1999C>T (p.Pro667Ser)
c.1873C>T (p.Pro625Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.27363649C>ACA395304993IL4Rc.2297C>A (p.Pro766Gln)
c.2252C>A (p.Pro751Gln)
c.230-454C>A (n.230-454C>A)
c.*2340C>A (n.*2340C>A)
c.1817C>A (p.Pro606Gln)
c.1406C>A (p.Pro469Gln)
c.1346C>A (p.Pro449Gln)
c.2030C>A (p.Pro677Gln)
c.2000C>A (p.Pro667Gln)
c.1874C>A (p.Pro625Gln)
16g.27363649C=CA2215170720IL4Rc.2297C= (p.Pro766=)
c.2252C= (p.Pro751=)
c.230-454C= (n.230-454C=)
c.*2340C= (n.*2340C=)
c.1817C= (p.Pro606=)
c.1406C= (p.Pro469=)
c.1346C= (p.Pro449=)
c.2030C= (p.Pro677=)
c.2000C= (p.Pro667=)
c.1874C= (p.Pro625=)
16g.27363649C>GCA395304998IL4Rc.2297C>G (p.Pro766Arg)
c.2252C>G (p.Pro751Arg)
c.230-454C>G (n.230-454C>G)
c.*2340C>G (n.*2340C>G)
c.1817C>G (p.Pro606Arg)
c.1406C>G (p.Pro469Arg)
c.1346C>G (p.Pro449Arg)
c.2030C>G (p.Pro677Arg)
c.2000C>G (p.Pro667Arg)
c.1874C>G (p.Pro625Arg)
16g.27363649C>TCA395305001IL4Rc.2297C>T (p.Pro766Leu)
c.2252C>T (p.Pro751Leu)
c.230-454C>T (n.230-454C>T)
c.*2340C>T (n.*2340C>T)
c.1817C>T (p.Pro606Leu)
c.1406C>T (p.Pro469Leu)
c.1346C>T (p.Pro449Leu)
c.2030C>T (p.Pro677Leu)
c.2000C>T (p.Pro667Leu)
c.1874C>T (p.Pro625Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.27363650A>CCA494470811IL4Rc.2298A>C (p.Pro766=)
c.2253A>C (p.Pro751=)
c.230-453A>C (n.230-453A>C)
c.*2341A>C (n.*2341A>C)
c.1818A>C (p.Pro606=)
c.1407A>C (p.Pro469=)
c.1347A>C (p.Pro449=)
c.2031A>C (p.Pro677=)
c.2001A>C (p.Pro667=)
c.1875A>C (p.Pro625=)
16g.27363650A>GCA494470812IL4Rc.2298A>G (p.Pro766=)
c.2253A>G (p.Pro751=)
c.230-453A>G (n.230-453A>G)
c.*2341A>G (n.*2341A>G)
c.1818A>G (p.Pro606=)
c.1407A>G (p.Pro469=)
c.1347A>G (p.Pro449=)
c.2031A>G (p.Pro677=)
c.2001A>G (p.Pro667=)
c.1875A>G (p.Pro625=)
16g.27363650A>TCA494470814IL4Rc.2298A>T (p.Pro766=)
c.2253A>T (p.Pro751=)
c.230-453A>T (n.230-453A>T)
c.*2341A>T (n.*2341A>T)
c.1818A>T (p.Pro606=)
c.1407A>T (p.Pro469=)
c.1347A>T (p.Pro449=)
c.2031A>T (p.Pro677=)
c.2001A>T (p.Pro667=)
c.1875A>T (p.Pro625=)
16g.27363651G>ACA395305005IL4Rc.2299G>A (p.Gly767Ser)
c.2254G>A (p.Gly752Ser)
c.230-452G>A (n.230-452G>A)
c.*2342G>A (n.*2342G>A)
c.1819G>A (p.Gly607Ser)
c.1408G>A (p.Gly470Ser)
c.1348G>A (p.Gly450Ser)
c.2032G>A (p.Gly678Ser)
c.2002G>A (p.Gly668Ser)
c.1876G>A (p.Gly626Ser)
16g.27363651G>CCA395305008IL4Rc.2299G>C (p.Gly767Arg)
c.2254G>C (p.Gly752Arg)
c.230-452G>C (n.230-452G>C)
c.*2342G>C (n.*2342G>C)
c.1819G>C (p.Gly607Arg)
c.1408G>C (p.Gly470Arg)
c.1348G>C (p.Gly450Arg)
c.2032G>C (p.Gly678Arg)
c.2002G>C (p.Gly668Arg)
c.1876G>C (p.Gly626Arg)
16g.27363651G>TCA395305011IL4Rc.2299G>T (p.Gly767Cys)
c.2254G>T (p.Gly752Cys)
c.230-452G>T (n.230-452G>T)
c.*2342G>T (n.*2342G>T)
c.1819G>T (p.Gly607Cys)
c.1408G>T (p.Gly470Cys)
c.1348G>T (p.Gly450Cys)
c.2032G>T (p.Gly678Cys)
c.2002G>T (p.Gly668Cys)
c.1876G>T (p.Gly626Cys)
16g.27363652G>ACA395305015IL4Rc.2300G>A (p.Gly767Asp)
c.2255G>A (p.Gly752Asp)
c.230-451G>A (n.230-451G>A)
c.*2343G>A (n.*2343G>A)
c.1820G>A (p.Gly607Asp)
c.1409G>A (p.Gly470Asp)
c.1349G>A (p.Gly450Asp)
c.2033G>A (p.Gly678Asp)
c.2003G>A (p.Gly668Asp)
c.1877G>A (p.Gly626Asp)
16g.27363652G>CCA395305022IL4Rc.2300G>C (p.Gly767Ala)
c.2255G>C (p.Gly752Ala)
c.230-451G>C (n.230-451G>C)
c.*2343G>C (n.*2343G>C)
c.1820G>C (p.Gly607Ala)
c.1409G>C (p.Gly470Ala)
c.1349G>C (p.Gly450Ala)
c.2033G>C (p.Gly678Ala)
c.2003G>C (p.Gly668Ala)
c.1877G>C (p.Gly626Ala)
 gnomAD v4
16g.27363652G=CA2215170722IL4Rc.2300G= (p.Gly767=)
c.2255G= (p.Gly752=)
c.230-451G= (n.230-451G=)
c.*2343G= (n.*2343G=)
c.1820G= (p.Gly607=)
c.1409G= (p.Gly470=)
c.1349G= (p.Gly450=)
c.2033G= (p.Gly678=)
c.2003G= (p.Gly668=)
c.1877G= (p.Gly626=)
16g.27363652G>TCA395305023IL4Rc.2300G>T (p.Gly767Val)
c.2255G>T (p.Gly752Val)
c.230-451G>T (n.230-451G>T)
c.*2343G>T (n.*2343G>T)
c.1820G>T (p.Gly607Val)
c.1409G>T (p.Gly470Val)
c.1349G>T (p.Gly450Val)
c.2033G>T (p.Gly678Val)
c.2003G>T (p.Gly668Val)
c.1877G>T (p.Gly626Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363653T>ACA494470820IL4Rc.2301T>A (p.Gly767=)
c.2256T>A (p.Gly752=)
c.230-450T>A (n.230-450T>A)
c.*2344T>A (n.*2344T>A)
c.1821T>A (p.Gly607=)
c.1410T>A (p.Gly470=)
c.1350T>A (p.Gly450=)
c.2034T>A (p.Gly678=)
c.2004T>A (p.Gly668=)
c.1878T>A (p.Gly626=)
16g.27363653T>CCA494470822IL4Rc.2301T>C (p.Gly767=)
c.2256T>C (p.Gly752=)
c.230-450T>C (n.230-450T>C)
c.*2344T>C (n.*2344T>C)
c.1821T>C (p.Gly607=)
c.1410T>C (p.Gly470=)
c.1350T>C (p.Gly450=)
c.2034T>C (p.Gly678=)
c.2004T>C (p.Gly668=)
c.1878T>C (p.Gly626=)
16g.27363653T>GCA494470821IL4Rc.2301T>G (p.Gly767=)
c.2256T>G (p.Gly752=)
c.230-450T>G (n.230-450T>G)
c.*2344T>G (n.*2344T>G)
c.1821T>G (p.Gly607=)
c.1410T>G (p.Gly470=)
c.1350T>G (p.Gly450=)
c.2034T>G (p.Gly678=)
c.2004T>G (p.Gly668=)
c.1878T>G (p.Gly626=)
16g.27363654G>ACA395305031IL4Rc.2302G>A (p.Gly768Arg)
c.2257G>A (p.Gly753Arg)
c.230-449G>A (n.230-449G>A)
c.*2345G>A (n.*2345G>A)
c.1822G>A (p.Gly608Arg)
c.1411G>A (p.Gly471Arg)
c.1351G>A (p.Gly451Arg)
c.2035G>A (p.Gly679Arg)
c.2005G>A (p.Gly669Arg)
c.1879G>A (p.Gly627Arg)
 dbSNP gnomAD v4
16g.27363654G>CCA395305034IL4Rc.2302G>C (p.Gly768Arg)
c.2257G>C (p.Gly753Arg)
c.230-449G>C (n.230-449G>C)
c.*2345G>C (n.*2345G>C)
c.1822G>C (p.Gly608Arg)
c.1411G>C (p.Gly471Arg)
c.1351G>C (p.Gly451Arg)
c.2035G>C (p.Gly679Arg)
c.2005G>C (p.Gly669Arg)
c.1879G>C (p.Gly627Arg)
16g.27363654G=CA2215170730IL4Rc.2302G= (p.Gly768=)
c.2257G= (p.Gly753=)
c.230-449G= (n.230-449G=)
c.*2345G= (n.*2345G=)
c.1822G= (p.Gly608=)
c.1411G= (p.Gly471=)
c.1351G= (p.Gly451=)
c.2035G= (p.Gly679=)
c.2005G= (p.Gly669=)
c.1879G= (p.Gly627=)
16g.27363654G>TCA395305028IL4Rc.2302G>T (p.Gly768Trp)
c.2257G>T (p.Gly753Trp)
c.230-449G>T (n.230-449G>T)
c.*2345G>T (n.*2345G>T)
c.1822G>T (p.Gly608Trp)
c.1411G>T (p.Gly471Trp)
c.1351G>T (p.Gly451Trp)
c.2035G>T (p.Gly679Trp)
c.2005G>T (p.Gly669Trp)
c.1879G>T (p.Gly627Trp)
 gnomAD v4
16g.27363655G>ACA395305038IL4Rc.2303G>A (p.Gly768Glu)
c.2258G>A (p.Gly753Glu)
c.230-448G>A (n.230-448G>A)
c.*2346G>A (n.*2346G>A)
c.1823G>A (p.Gly608Glu)
c.1412G>A (p.Gly471Glu)
c.1352G>A (p.Gly451Glu)
c.2036G>A (p.Gly679Glu)
c.2006G>A (p.Gly669Glu)
c.1880G>A (p.Gly627Glu)
16g.27363655G>CCA395305047IL4Rc.2303G>C (p.Gly768Ala)
c.2258G>C (p.Gly753Ala)
c.230-448G>C (n.230-448G>C)
c.*2346G>C (n.*2346G>C)
c.1823G>C (p.Gly608Ala)
c.1412G>C (p.Gly471Ala)
c.1352G>C (p.Gly451Ala)
c.2036G>C (p.Gly679Ala)
c.2006G>C (p.Gly669Ala)
c.1880G>C (p.Gly627Ala)
16g.27363655G>TCA395305040IL4Rc.2303G>T (p.Gly768Val)
c.2258G>T (p.Gly753Val)
c.230-448G>T (n.230-448G>T)
c.*2346G>T (n.*2346G>T)
c.1823G>T (p.Gly608Val)
c.1412G>T (p.Gly471Val)
c.1352G>T (p.Gly451Val)
c.2036G>T (p.Gly679Val)
c.2006G>T (p.Gly669Val)
c.1880G>T (p.Gly627Val)
 gnomAD v4
16g.27363656G>ACA494470825IL4Rc.2304G>A (p.Gly768=)
c.2259G>A (p.Gly753=)
c.230-447G>A (n.230-447G>A)
c.*2347G>A (n.*2347G>A)
c.1824G>A (p.Gly608=)
c.1413G>A (p.Gly471=)
c.1353G>A (p.Gly451=)
c.2037G>A (p.Gly679=)
c.2007G>A (p.Gly669=)
c.1881G>A (p.Gly627=)
16g.27363656G>CCA494470826IL4Rc.2304G>C (p.Gly768=)
c.2259G>C (p.Gly753=)
c.230-447G>C (n.230-447G>C)
c.*2347G>C (n.*2347G>C)
c.1824G>C (p.Gly608=)
c.1413G>C (p.Gly471=)
c.1353G>C (p.Gly451=)
c.2037G>C (p.Gly679=)
c.2007G>C (p.Gly669=)
c.1881G>C (p.Gly627=)
16g.27363656G>TCA494470827IL4Rc.2304G>T (p.Gly768=)
c.2259G>T (p.Gly753=)
c.230-447G>T (n.230-447G>T)
c.*2347G>T (n.*2347G>T)
c.1824G>T (p.Gly608=)
c.1413G>T (p.Gly471=)
c.1353G>T (p.Gly451=)
c.2037G>T (p.Gly679=)
c.2007G>T (p.Gly669=)
c.1881G>T (p.Gly627=)
16g.27363657G>ACA395305052IL4Rc.2305G>A (p.Val769Ile)
c.2260G>A (p.Val754Ile)
c.230-446G>A (n.230-446G>A)
c.*2348G>A (n.*2348G>A)
c.1825G>A (p.Val609Ile)
c.1414G>A (p.Val472Ile)
c.1354G>A (p.Val452Ile)
c.2038G>A (p.Val680Ile)
c.2008G>A (p.Val670Ile)
c.1882G>A (p.Val628Ile)
 gnomAD v4
16g.27363657G>CCA395305054IL4Rc.2305G>C (p.Val769Leu)
c.2260G>C (p.Val754Leu)
c.230-446G>C (n.230-446G>C)
c.*2348G>C (n.*2348G>C)
c.1825G>C (p.Val609Leu)
c.1414G>C (p.Val472Leu)
c.1354G>C (p.Val452Leu)
c.2038G>C (p.Val680Leu)
c.2008G>C (p.Val670Leu)
c.1882G>C (p.Val628Leu)
16g.27363657G>TCA395305061IL4Rc.2305G>T (p.Val769Phe)
c.2260G>T (p.Val754Phe)
c.230-446G>T (n.230-446G>T)
c.*2348G>T (n.*2348G>T)
c.1825G>T (p.Val609Phe)
c.1414G>T (p.Val472Phe)
c.1354G>T (p.Val452Phe)
c.2038G>T (p.Val680Phe)
c.2008G>T (p.Val670Phe)
c.1882G>T (p.Val628Phe)
 gnomAD v4
16g.27363658T>ACA395305064IL4Rc.2306T>A (p.Val769Asp)
c.2261T>A (p.Val754Asp)
c.230-445T>A (n.230-445T>A)
c.*2349T>A (n.*2349T>A)
c.1826T>A (p.Val609Asp)
c.1415T>A (p.Val472Asp)
c.1355T>A (p.Val452Asp)
c.2039T>A (p.Val680Asp)
c.2009T>A (p.Val670Asp)
c.1883T>A (p.Val628Asp)
16g.27363658T>CCA395305067IL4Rc.2306T>C (p.Val769Ala)
c.2261T>C (p.Val754Ala)
c.230-445T>C (n.230-445T>C)
c.*2349T>C (n.*2349T>C)
c.1826T>C (p.Val609Ala)
c.1415T>C (p.Val472Ala)
c.1355T>C (p.Val452Ala)
c.2039T>C (p.Val680Ala)
c.2009T>C (p.Val670Ala)
c.1883T>C (p.Val628Ala)
 gnomAD v4
16g.27363658T>GCA395305069IL4Rc.2306T>G (p.Val769Gly)
c.2261T>G (p.Val754Gly)
c.230-445T>G (n.230-445T>G)
c.*2349T>G (n.*2349T>G)
c.1826T>G (p.Val609Gly)
c.1415T>G (p.Val472Gly)
c.1355T>G (p.Val452Gly)
c.2039T>G (p.Val680Gly)
c.2009T>G (p.Val670Gly)
c.1883T>G (p.Val628Gly)
16g.27363659T>ACA494470831IL4Rc.2307T>A (p.Val769=)
c.2262T>A (p.Val754=)
c.230-444T>A (n.230-444T>A)
c.*2350T>A (n.*2350T>A)
c.1827T>A (p.Val609=)
c.1416T>A (p.Val472=)
c.1356T>A (p.Val452=)
c.2040T>A (p.Val680=)
c.2010T>A (p.Val670=)
c.1884T>A (p.Val628=)
16g.27363659T>CCA494470836IL4Rc.2307T>C (p.Val769=)
c.2262T>C (p.Val754=)
c.230-444T>C (n.230-444T>C)
c.*2350T>C (n.*2350T>C)
c.1827T>C (p.Val609=)
c.1416T>C (p.Val472=)
c.1356T>C (p.Val452=)
c.2040T>C (p.Val680=)
c.2010T>C (p.Val670=)
c.1884T>C (p.Val628=)
16g.27363659T>GCA494470833IL4Rc.2307T>G (p.Val769=)
c.2262T>G (p.Val754=)
c.230-444T>G (n.230-444T>G)
c.*2350T>G (n.*2350T>G)
c.1827T>G (p.Val609=)
c.1416T>G (p.Val472=)
c.1356T>G (p.Val452=)
c.2040T>G (p.Val680=)
c.2010T>G (p.Val670=)
c.1884T>G (p.Val628=)
16g.27363660C>ACA395305073IL4Rc.2308C>A (p.Pro770Thr)
c.2263C>A (p.Pro755Thr)
c.230-443C>A (n.230-443C>A)
c.*2351C>A (n.*2351C>A)
c.1828C>A (p.Pro610Thr)
c.1417C>A (p.Pro473Thr)
c.1357C>A (p.Pro453Thr)
c.2041C>A (p.Pro681Thr)
c.2011C>A (p.Pro671Thr)
c.1885C>A (p.Pro629Thr)
16g.27363660C>GCA395305076IL4Rc.2308C>G (p.Pro770Ala)
c.2263C>G (p.Pro755Ala)
c.230-443C>G (n.230-443C>G)
c.*2351C>G (n.*2351C>G)
c.1828C>G (p.Pro610Ala)
c.1417C>G (p.Pro473Ala)
c.1357C>G (p.Pro453Ala)
c.2041C>G (p.Pro681Ala)
c.2011C>G (p.Pro671Ala)
c.1885C>G (p.Pro629Ala)
16g.27363660C>TCA395305079IL4Rc.2308C>T (p.Pro770Ser)
c.2263C>T (p.Pro755Ser)
c.230-443C>T (n.230-443C>T)
c.*2351C>T (n.*2351C>T)
c.1828C>T (p.Pro610Ser)
c.1417C>T (p.Pro473Ser)
c.1357C>T (p.Pro453Ser)
c.2041C>T (p.Pro681Ser)
c.2011C>T (p.Pro671Ser)
c.1885C>T (p.Pro629Ser)
16g.27363661C>ACA395305082IL4Rc.2309C>A (p.Pro770Gln)
c.2264C>A (p.Pro755Gln)
c.230-442C>A (n.230-442C>A)
c.*2352C>A (n.*2352C>A)
c.1829C>A (p.Pro610Gln)
c.1418C>A (p.Pro473Gln)
c.1358C>A (p.Pro453Gln)
c.2042C>A (p.Pro681Gln)
c.2012C>A (p.Pro671Gln)
c.1886C>A (p.Pro629Gln)
16g.27363661C>GCA395305085IL4Rc.2309C>G (p.Pro770Arg)
c.2264C>G (p.Pro755Arg)
c.230-442C>G (n.230-442C>G)
c.*2352C>G (n.*2352C>G)
c.1829C>G (p.Pro610Arg)
c.1418C>G (p.Pro473Arg)
c.1358C>G (p.Pro453Arg)
c.2042C>G (p.Pro681Arg)
c.2012C>G (p.Pro671Arg)
c.1886C>G (p.Pro629Arg)
16g.27363661C>TCA395305088IL4Rc.2309C>T (p.Pro770Leu)
c.2264C>T (p.Pro755Leu)
c.230-442C>T (n.230-442C>T)
c.*2352C>T (n.*2352C>T)
c.1829C>T (p.Pro610Leu)
c.1418C>T (p.Pro473Leu)
c.1358C>T (p.Pro453Leu)
c.2042C>T (p.Pro681Leu)
c.2012C>T (p.Pro671Leu)
c.1886C>T (p.Pro629Leu)
16g.27363662A=CA2215170735IL4Rc.2310A= (p.Pro770=)
c.2265A= (p.Pro755=)
c.230-441A= (n.230-441A=)
c.*2353A= (n.*2353A=)
c.1830A= (p.Pro610=)
c.1419A= (p.Pro473=)
c.1359A= (p.Pro453=)
c.2043A= (p.Pro681=)
c.2013A= (p.Pro671=)
c.1887A= (p.Pro629=)
16g.27363662A>CCA494470838IL4Rc.2310A>C (p.Pro770=)
c.2265A>C (p.Pro755=)
c.230-441A>C (n.230-441A>C)
c.*2353A>C (n.*2353A>C)
c.1830A>C (p.Pro610=)
c.1419A>C (p.Pro473=)
c.1359A>C (p.Pro453=)
c.2043A>C (p.Pro681=)
c.2013A>C (p.Pro671=)
c.1887A>C (p.Pro629=)
16g.27363662A>GCA279687960IL4Rc.2310A>G (p.Pro770=)
c.2265A>G (p.Pro755=)
c.230-441A>G (n.230-441A>G)
c.*2353A>G (n.*2353A>G)
c.1830A>G (p.Pro610=)
c.1419A>G (p.Pro473=)
c.1359A>G (p.Pro453=)
c.2043A>G (p.Pro681=)
c.2013A>G (p.Pro671=)
c.1887A>G (p.Pro629=)
 dbSNP
16g.27363662A>TCA7974731IL4Rc.2310A>T (p.Pro770=)
c.2265A>T (p.Pro755=)
c.230-441A>T (n.230-441A>T)
c.*2353A>T (n.*2353A>T)
c.1830A>T (p.Pro610=)
c.1419A>T (p.Pro473=)
c.1359A>T (p.Pro453=)
c.2043A>T (p.Pro681=)
c.2013A>T (p.Pro671=)
c.1887A>T (p.Pro629=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363663C>ACA395305091IL4Rc.2311C>A (p.Leu771Met)
c.2266C>A (p.Leu756Met)
c.230-440C>A (n.230-440C>A)
c.*2354C>A (n.*2354C>A)
c.1831C>A (p.Leu611Met)
c.1420C>A (p.Leu474Met)
c.1360C>A (p.Leu454Met)
c.2044C>A (p.Leu682Met)
c.2014C>A (p.Leu672Met)
c.1888C>A (p.Leu630Met)
16g.27363663C>GCA395305094IL4Rc.2311C>G (p.Leu771Val)
c.2266C>G (p.Leu756Val)
c.230-440C>G (n.230-440C>G)
c.*2354C>G (n.*2354C>G)
c.1831C>G (p.Leu611Val)
c.1420C>G (p.Leu474Val)
c.1360C>G (p.Leu454Val)
c.2044C>G (p.Leu682Val)
c.2014C>G (p.Leu672Val)
c.1888C>G (p.Leu630Val)
 gnomAD v4
16g.27363663C>TCA494470841IL4Rc.2311C>T (p.Leu771=)
c.2266C>T (p.Leu756=)
c.230-440C>T (n.230-440C>T)
c.*2354C>T (n.*2354C>T)
c.1831C>T (p.Leu611=)
c.1420C>T (p.Leu474=)
c.1360C>T (p.Leu454=)
c.2044C>T (p.Leu682=)
c.2014C>T (p.Leu672=)
c.1888C>T (p.Leu630=)
16g.27363664T>ACA395305097IL4Rc.2312T>A (p.Leu771Gln)
c.2267T>A (p.Leu756Gln)
c.230-439T>A (n.230-439T>A)
c.*2355T>A (n.*2355T>A)
c.1832T>A (p.Leu611Gln)
c.1421T>A (p.Leu474Gln)
c.1361T>A (p.Leu454Gln)
c.2045T>A (p.Leu682Gln)
c.2015T>A (p.Leu672Gln)
c.1889T>A (p.Leu630Gln)
16g.27363664T>CCA395305102IL4Rc.2312T>C (p.Leu771Pro)
c.2267T>C (p.Leu756Pro)
c.230-439T>C (n.230-439T>C)
c.*2355T>C (n.*2355T>C)
c.1832T>C (p.Leu611Pro)
c.1421T>C (p.Leu474Pro)
c.1361T>C (p.Leu454Pro)
c.2045T>C (p.Leu682Pro)
c.2015T>C (p.Leu672Pro)
c.1889T>C (p.Leu630Pro)
16g.27363664T>GCA395305106IL4Rc.2312T>G (p.Leu771Arg)
c.2267T>G (p.Leu756Arg)
c.230-439T>G (n.230-439T>G)
c.*2355T>G (n.*2355T>G)
c.1832T>G (p.Leu611Arg)
c.1421T>G (p.Leu474Arg)
c.1361T>G (p.Leu454Arg)
c.2045T>G (p.Leu682Arg)
c.2015T>G (p.Leu672Arg)
c.1889T>G (p.Leu630Arg)
16g.27363665G>ACA494470847IL4Rc.2313G>A (p.Leu771=)
c.2268G>A (p.Leu756=)
c.230-438G>A (n.230-438G>A)
c.*2356G>A (n.*2356G>A)
c.1833G>A (p.Leu611=)
c.1422G>A (p.Leu474=)
c.1362G>A (p.Leu454=)
c.2046G>A (p.Leu682=)
c.2016G>A (p.Leu672=)
c.1890G>A (p.Leu630=)
 COSMIC
16g.27363665G>CCA494470848IL4Rc.2313G>C (p.Leu771=)
c.2268G>C (p.Leu756=)
c.230-438G>C (n.230-438G>C)
c.*2356G>C (n.*2356G>C)
c.1833G>C (p.Leu611=)
c.1422G>C (p.Leu474=)
c.1362G>C (p.Leu454=)
c.2046G>C (p.Leu682=)
c.2016G>C (p.Leu672=)
c.1890G>C (p.Leu630=)
16g.27363665G>TCA494470849IL4Rc.2313G>T (p.Leu771=)
c.2268G>T (p.Leu756=)
c.230-438G>T (n.230-438G>T)
c.*2356G>T (n.*2356G>T)
c.1833G>T (p.Leu611=)
c.1422G>T (p.Leu474=)
c.1362G>T (p.Leu454=)
c.2046G>T (p.Leu682=)
c.2016G>T (p.Leu672=)
c.1890G>T (p.Leu630=)
16g.27363666G>ACA395305109IL4Rc.2314G>A (p.Glu772Lys)
c.2269G>A (p.Glu757Lys)
c.230-437G>A (n.230-437G>A)
c.*2357G>A (n.*2357G>A)
c.1834G>A (p.Glu612Lys)
c.1423G>A (p.Glu475Lys)
c.1363G>A (p.Glu455Lys)
c.2047G>A (p.Glu683Lys)
c.2017G>A (p.Glu673Lys)
c.1891G>A (p.Glu631Lys)
16g.27363666G>CCA395305113IL4Rc.2314G>C (p.Glu772Gln)
c.2269G>C (p.Glu757Gln)
c.230-437G>C (n.230-437G>C)
c.*2357G>C (n.*2357G>C)
c.1834G>C (p.Glu612Gln)
c.1423G>C (p.Glu475Gln)
c.1363G>C (p.Glu455Gln)
c.2047G>C (p.Glu683Gln)
c.2017G>C (p.Glu673Gln)
c.1891G>C (p.Glu631Gln)
16g.27363666G>TCA395305116IL4Rc.2314G>T (p.Glu772Ter)
c.2269G>T (p.Glu757Ter)
c.230-437G>T (n.230-437G>T)
c.*2357G>T (n.*2357G>T)
c.1834G>T (p.Glu612Ter)
c.1423G>T (p.Glu475Ter)
c.1363G>T (p.Glu455Ter)
c.2047G>T (p.Glu683Ter)
c.2017G>T (p.Glu673Ter)
c.1891G>T (p.Glu631Ter)
16g.27363667A>CCA395305119IL4Rc.2315A>C (p.Glu772Ala)
c.2270A>C (p.Glu757Ala)
c.230-436A>C (n.230-436A>C)
c.*2358A>C (n.*2358A>C)
c.1835A>C (p.Glu612Ala)
c.1424A>C (p.Glu475Ala)
c.1364A>C (p.Glu455Ala)
c.2048A>C (p.Glu683Ala)
c.2018A>C (p.Glu673Ala)
c.1892A>C (p.Glu631Ala)
16g.27363667A>GCA395305122IL4Rc.2315A>G (p.Glu772Gly)
c.2270A>G (p.Glu757Gly)
c.230-436A>G (n.230-436A>G)
c.*2358A>G (n.*2358A>G)
c.1835A>G (p.Glu612Gly)
c.1424A>G (p.Glu475Gly)
c.1364A>G (p.Glu455Gly)
c.2048A>G (p.Glu683Gly)
c.2018A>G (p.Glu673Gly)
c.1892A>G (p.Glu631Gly)
16g.27363667A>TCA395305124IL4Rc.2315A>T (p.Glu772Val)
c.2270A>T (p.Glu757Val)
c.230-436A>T (n.230-436A>T)
c.*2358A>T (n.*2358A>T)
c.1835A>T (p.Glu612Val)
c.1424A>T (p.Glu475Val)
c.1364A>T (p.Glu455Val)
c.2048A>T (p.Glu683Val)
c.2018A>T (p.Glu673Val)
c.1892A>T (p.Glu631Val)
16g.27363668G>ACA494470851IL4Rc.2316G>A (p.Glu772=)
c.2271G>A (p.Glu757=)
c.230-435G>A (n.230-435G>A)
c.*2359G>A (n.*2359G>A)
c.1836G>A (p.Glu612=)
c.1425G>A (p.Glu475=)
c.1365G>A (p.Glu455=)
c.2049G>A (p.Glu683=)
c.2019G>A (p.Glu673=)
c.1893G>A (p.Glu631=)
16g.27363668G>CCA395305134IL4Rc.2316G>C (p.Glu772Asp)
c.2271G>C (p.Glu757Asp)
c.230-435G>C (n.230-435G>C)
c.*2359G>C (n.*2359G>C)
c.1836G>C (p.Glu612Asp)
c.1425G>C (p.Glu475Asp)
c.1365G>C (p.Glu455Asp)
c.2049G>C (p.Glu683Asp)
c.2019G>C (p.Glu673Asp)
c.1893G>C (p.Glu631Asp)
16g.27363668G>TCA395305136IL4Rc.2316G>T (p.Glu772Asp)
c.2271G>T (p.Glu757Asp)
c.230-435G>T (n.230-435G>T)
c.*2359G>T (n.*2359G>T)
c.1836G>T (p.Glu612Asp)
c.1425G>T (p.Glu475Asp)
c.1365G>T (p.Glu455Asp)
c.2049G>T (p.Glu683Asp)
c.2019G>T (p.Glu673Asp)
c.1893G>T (p.Glu631Asp)
16g.27363669G>ACA395305158IL4Rc.2317G>A (p.Ala773Thr)
c.2272G>A (p.Ala758Thr)
c.230-434G>A (n.230-434G>A)
c.*2360G>A (n.*2360G>A)
c.1837G>A (p.Ala613Thr)
c.1426G>A (p.Ala476Thr)
c.1366G>A (p.Ala456Thr)
c.2050G>A (p.Ala684Thr)
c.2020G>A (p.Ala674Thr)
c.1894G>A (p.Ala632Thr)
16g.27363669G>CCA395305155IL4Rc.2317G>C (p.Ala773Pro)
c.2272G>C (p.Ala758Pro)
c.230-434G>C (n.230-434G>C)
c.*2360G>C (n.*2360G>C)
c.1837G>C (p.Ala613Pro)
c.1426G>C (p.Ala476Pro)
c.1366G>C (p.Ala456Pro)
c.2050G>C (p.Ala684Pro)
c.2020G>C (p.Ala674Pro)
c.1894G>C (p.Ala632Pro)
16g.27363669G>TCA395305152IL4Rc.2317G>T (p.Ala773Ser)
c.2272G>T (p.Ala758Ser)
c.230-434G>T (n.230-434G>T)
c.*2360G>T (n.*2360G>T)
c.1837G>T (p.Ala613Ser)
c.1426G>T (p.Ala476Ser)
c.1366G>T (p.Ala456Ser)
c.2050G>T (p.Ala684Ser)
c.2020G>T (p.Ala674Ser)
c.1894G>T (p.Ala632Ser)
16g.27363670C>ACA395305163IL4Rc.2318C>A (p.Ala773Asp)
c.2273C>A (p.Ala758Asp)
c.230-433C>A (n.230-433C>A)
c.*2361C>A (n.*2361C>A)
c.1838C>A (p.Ala613Asp)
c.1427C>A (p.Ala476Asp)
c.1367C>A (p.Ala456Asp)
c.2051C>A (p.Ala684Asp)
c.2021C>A (p.Ala674Asp)
c.1895C>A (p.Ala632Asp)
16g.27363670C>GCA395305172IL4Rc.2318C>G (p.Ala773Gly)
c.2273C>G (p.Ala758Gly)
c.230-433C>G (n.230-433C>G)
c.*2361C>G (n.*2361C>G)
c.1838C>G (p.Ala613Gly)
c.1427C>G (p.Ala476Gly)
c.1367C>G (p.Ala456Gly)
c.2051C>G (p.Ala684Gly)
c.2021C>G (p.Ala674Gly)
c.1895C>G (p.Ala632Gly)
16g.27363670C>TCA395305176IL4Rc.2318C>T (p.Ala773Val)
c.2273C>T (p.Ala758Val)
c.230-433C>T (n.230-433C>T)
c.*2361C>T (n.*2361C>T)
c.1838C>T (p.Ala613Val)
c.1427C>T (p.Ala476Val)
c.1367C>T (p.Ala456Val)
c.2051C>T (p.Ala684Val)
c.2021C>T (p.Ala674Val)
c.1895C>T (p.Ala632Val)
 gnomAD v4
16g.27363671C>ACA7974733IL4Rc.2319C>A (p.Ala773=)
c.2274C>A (p.Ala758=)
c.230-432C>A (n.230-432C>A)
c.*2362C>A (n.*2362C>A)
c.1839C>A (p.Ala613=)
c.1428C>A (p.Ala476=)
c.1368C>A (p.Ala456=)
c.2052C>A (p.Ala684=)
c.2022C>A (p.Ala674=)
c.1896C>A (p.Ala632=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363671C=CA2215170741IL4Rc.2319C= (p.Ala773=)
c.2274C= (p.Ala758=)
c.230-432C= (n.230-432C=)
c.*2362C= (n.*2362C=)
c.1839C= (p.Ala613=)
c.1428C= (p.Ala476=)
c.1368C= (p.Ala456=)
c.2052C= (p.Ala684=)
c.2022C= (p.Ala674=)
c.1896C= (p.Ala632=)
16g.27363671C>GCA494470855IL4Rc.2319C>G (p.Ala773=)
c.2274C>G (p.Ala758=)
c.230-432C>G (n.230-432C>G)
c.*2362C>G (n.*2362C>G)
c.1839C>G (p.Ala613=)
c.1428C>G (p.Ala476=)
c.1368C>G (p.Ala456=)
c.2052C>G (p.Ala684=)
c.2022C>G (p.Ala674=)
c.1896C>G (p.Ala632=)
16g.27363671C>TCA7974732IL4Rc.2319C>T (p.Ala773=)
c.2274C>T (p.Ala758=)
c.230-432C>T (n.230-432C>T)
c.*2362C>T (n.*2362C>T)
c.1839C>T (p.Ala613=)
c.1428C>T (p.Ala476=)
c.1368C>T (p.Ala456=)
c.2052C>T (p.Ala684=)
c.2022C>T (p.Ala674=)
c.1896C>T (p.Ala632=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363672A>CCA395305181IL4Rc.2320A>C (p.Ser774Arg)
c.2275A>C (p.Ser759Arg)
c.230-431A>C (n.230-431A>C)
c.*2363A>C (n.*2363A>C)
c.1840A>C (p.Ser614Arg)
c.1429A>C (p.Ser477Arg)
c.1369A>C (p.Ser457Arg)
c.2053A>C (p.Ser685Arg)
c.2023A>C (p.Ser675Arg)
c.1897A>C (p.Ser633Arg)
16g.27363672A>GCA395305183IL4Rc.2320A>G (p.Ser774Gly)
c.2275A>G (p.Ser759Gly)
c.230-431A>G (n.230-431A>G)
c.*2363A>G (n.*2363A>G)
c.1840A>G (p.Ser614Gly)
c.1429A>G (p.Ser477Gly)
c.1369A>G (p.Ser457Gly)
c.2053A>G (p.Ser685Gly)
c.2023A>G (p.Ser675Gly)
c.1897A>G (p.Ser633Gly)
16g.27363672A>TCA395305185IL4Rc.2320A>T (p.Ser774Cys)
c.2275A>T (p.Ser759Cys)
c.230-431A>T (n.230-431A>T)
c.*2363A>T (n.*2363A>T)
c.1840A>T (p.Ser614Cys)
c.1429A>T (p.Ser477Cys)
c.1369A>T (p.Ser457Cys)
c.2053A>T (p.Ser685Cys)
c.2023A>T (p.Ser675Cys)
c.1897A>T (p.Ser633Cys)
 gnomAD v4
16g.27363673G>ACA395305190IL4Rc.2321G>A (p.Ser774Asn)
c.2276G>A (p.Ser759Asn)
c.230-430G>A (n.230-430G>A)
c.*2364G>A (n.*2364G>A)
c.1841G>A (p.Ser614Asn)
c.1430G>A (p.Ser477Asn)
c.1370G>A (p.Ser457Asn)
c.2054G>A (p.Ser685Asn)
c.2024G>A (p.Ser675Asn)
c.1898G>A (p.Ser633Asn)
 gnomAD v4
16g.27363673G>CCA395305192IL4Rc.2321G>C (p.Ser774Thr)
c.2276G>C (p.Ser759Thr)
c.230-430G>C (n.230-430G>C)
c.*2364G>C (n.*2364G>C)
c.1841G>C (p.Ser614Thr)
c.1430G>C (p.Ser477Thr)
c.1370G>C (p.Ser457Thr)
c.2054G>C (p.Ser685Thr)
c.2024G>C (p.Ser675Thr)
c.1898G>C (p.Ser633Thr)
16g.27363673G>TCA395305200IL4Rc.2321G>T (p.Ser774Ile)
c.2276G>T (p.Ser759Ile)
c.230-430G>T (n.230-430G>T)
c.*2364G>T (n.*2364G>T)
c.1841G>T (p.Ser614Ile)
c.1430G>T (p.Ser477Ile)
c.1370G>T (p.Ser457Ile)
c.2054G>T (p.Ser685Ile)
c.2024G>T (p.Ser675Ile)
c.1898G>T (p.Ser633Ile)
 gnomAD v4
16g.27363674T>ACA395305202IL4Rc.2322T>A (p.Ser774Arg)
c.2277T>A (p.Ser759Arg)
c.230-429T>A (n.230-429T>A)
c.*2365T>A (n.*2365T>A)
c.1842T>A (p.Ser614Arg)
c.1431T>A (p.Ser477Arg)
c.1371T>A (p.Ser457Arg)
c.2055T>A (p.Ser685Arg)
c.2025T>A (p.Ser675Arg)
c.1899T>A (p.Ser633Arg)
16g.27363674T>CCA494470860IL4Rc.2322T>C (p.Ser774=)
c.2277T>C (p.Ser759=)
c.230-429T>C (n.230-429T>C)
c.*2365T>C (n.*2365T>C)
c.1842T>C (p.Ser614=)
c.1431T>C (p.Ser477=)
c.1371T>C (p.Ser457=)
c.2055T>C (p.Ser685=)
c.2025T>C (p.Ser675=)
c.1899T>C (p.Ser633=)
 dbSNP
16g.27363674T>GCA395305209IL4Rc.2322T>G (p.Ser774Arg)
c.2277T>G (p.Ser759Arg)
c.230-429T>G (n.230-429T>G)
c.*2365T>G (n.*2365T>G)
c.1842T>G (p.Ser614Arg)
c.1431T>G (p.Ser477Arg)
c.1371T>G (p.Ser457Arg)
c.2055T>G (p.Ser685Arg)
c.2025T>G (p.Ser675Arg)
c.1899T>G (p.Ser633Arg)
16g.27363675C>ACA395305214IL4Rc.2323C>A (p.Leu775Met)
c.2278C>A (p.Leu760Met)
c.230-428C>A (n.230-428C>A)
c.*2366C>A (n.*2366C>A)
c.1843C>A (p.Leu615Met)
c.1432C>A (p.Leu478Met)
c.1372C>A (p.Leu458Met)
c.2056C>A (p.Leu686Met)
c.2026C>A (p.Leu676Met)
c.1900C>A (p.Leu634Met)
 gnomAD v4
16g.27363675C>GCA395305211IL4Rc.2323C>G (p.Leu775Val)
c.2278C>G (p.Leu760Val)
c.230-428C>G (n.230-428C>G)
c.*2366C>G (n.*2366C>G)
c.1843C>G (p.Leu615Val)
c.1432C>G (p.Leu478Val)
c.1372C>G (p.Leu458Val)
c.2056C>G (p.Leu686Val)
c.2026C>G (p.Leu676Val)
c.1900C>G (p.Leu634Val)
16g.27363675C>TCA494470861IL4Rc.2323C>T (p.Leu775=)
c.2278C>T (p.Leu760=)
c.230-428C>T (n.230-428C>T)
c.*2366C>T (n.*2366C>T)
c.1843C>T (p.Leu615=)
c.1432C>T (p.Leu478=)
c.1372C>T (p.Leu458=)
c.2056C>T (p.Leu686=)
c.2026C>T (p.Leu676=)
c.1900C>T (p.Leu634=)
16g.27363676T>ACA395305215IL4Rc.2324T>A (p.Leu775Gln)
c.2279T>A (p.Leu760Gln)
c.230-427T>A (n.230-427T>A)
c.*2367T>A (n.*2367T>A)
c.1844T>A (p.Leu615Gln)
c.1433T>A (p.Leu478Gln)
c.1373T>A (p.Leu458Gln)
c.2057T>A (p.Leu686Gln)
c.2027T>A (p.Leu676Gln)
c.1901T>A (p.Leu634Gln)
16g.27363676T>CCA395305216IL4Rc.2324T>C (p.Leu775Pro)
c.2279T>C (p.Leu760Pro)
c.230-427T>C (n.230-427T>C)
c.*2367T>C (n.*2367T>C)
c.1844T>C (p.Leu615Pro)
c.1433T>C (p.Leu478Pro)
c.1373T>C (p.Leu458Pro)
c.2057T>C (p.Leu686Pro)
c.2027T>C (p.Leu676Pro)
c.1901T>C (p.Leu634Pro)
16g.27363676T>GCA395305218IL4Rc.2324T>G (p.Leu775Arg)
c.2279T>G (p.Leu760Arg)
c.230-427T>G (n.230-427T>G)
c.*2367T>G (n.*2367T>G)
c.1844T>G (p.Leu615Arg)
c.1433T>G (p.Leu478Arg)
c.1373T>G (p.Leu458Arg)
c.2057T>G (p.Leu686Arg)
c.2027T>G (p.Leu676Arg)
c.1901T>G (p.Leu634Arg)
16g.27363679_27363680delCA2632431257IL4Rc.2327_2328del (p.Cys776SerfsTer14)
c.2282_2283del (p.Cys761SerfsTer14)
c.230-424_230-423del (n.230-424_230-423del)
c.*2370_*2371del (n.*2370_*2371del)
c.1847_1848del (p.Cys616SerfsTer14)
c.1436_1437del (p.Cys479SerfsTer14)
c.1376_1377del (p.Cys459SerfsTer14)
c.2060_2061del (p.Cys687SerfsTer14)
c.2030_2031del (p.Cys677SerfsTer14)
c.1904_1905del (p.Cys635SerfsTer14)
 gnomAD v4
16g.27363677G>ACA7974734IL4Rc.2325G>A (p.Leu775=)
c.2280G>A (p.Leu760=)
c.230-426G>A (n.230-426G>A)
c.*2368G>A (n.*2368G>A)
c.1845G>A (p.Leu615=)
c.1434G>A (p.Leu478=)
c.1374G>A (p.Leu458=)
c.2058G>A (p.Leu686=)
c.2028G>A (p.Leu676=)
c.1902G>A (p.Leu634=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363677G>CCA494470865IL4Rc.2325G>C (p.Leu775=)
c.2280G>C (p.Leu760=)
c.230-426G>C (n.230-426G>C)
c.*2368G>C (n.*2368G>C)
c.1845G>C (p.Leu615=)
c.1434G>C (p.Leu478=)
c.1374G>C (p.Leu458=)
c.2058G>C (p.Leu686=)
c.2028G>C (p.Leu676=)
c.1902G>C (p.Leu634=)
16g.27363677G=CA2215170747IL4Rc.2325G= (p.Leu775=)
c.2280G= (p.Leu760=)
c.230-426G= (n.230-426G=)
c.*2368G= (n.*2368G=)
c.1845G= (p.Leu615=)
c.1434G= (p.Leu478=)
c.1374G= (p.Leu458=)
c.2058G= (p.Leu686=)
c.2028G= (p.Leu676=)
c.1902G= (p.Leu634=)
16g.27363677G>TCA494470867IL4Rc.2325G>T (p.Leu775=)
c.2280G>T (p.Leu760=)
c.230-426G>T (n.230-426G>T)
c.*2368G>T (n.*2368G>T)
c.1845G>T (p.Leu615=)
c.1434G>T (p.Leu478=)
c.1374G>T (p.Leu458=)
c.2058G>T (p.Leu686=)
c.2028G>T (p.Leu676=)
c.1902G>T (p.Leu634=)
 gnomAD v4
16g.27363678T>ACA395305223IL4Rc.2326T>A (p.Cys776Ser)
c.2281T>A (p.Cys761Ser)
c.230-425T>A (n.230-425T>A)
c.*2369T>A (n.*2369T>A)
c.1846T>A (p.Cys616Ser)
c.1435T>A (p.Cys479Ser)
c.1375T>A (p.Cys459Ser)
c.2059T>A (p.Cys687Ser)
c.2029T>A (p.Cys677Ser)
c.1903T>A (p.Cys635Ser)
16g.27363678T>CCA395305226IL4Rc.2326T>C (p.Cys776Arg)
c.2281T>C (p.Cys761Arg)
c.230-425T>C (n.230-425T>C)
c.*2369T>C (n.*2369T>C)
c.1846T>C (p.Cys616Arg)
c.1435T>C (p.Cys479Arg)
c.1375T>C (p.Cys459Arg)
c.2059T>C (p.Cys687Arg)
c.2029T>C (p.Cys677Arg)
c.1903T>C (p.Cys635Arg)
 dbSNP
16g.27363678T>GCA395305229IL4Rc.2326T>G (p.Cys776Gly)
c.2281T>G (p.Cys761Gly)
c.230-425T>G (n.230-425T>G)
c.*2369T>G (n.*2369T>G)
c.1846T>G (p.Cys616Gly)
c.1435T>G (p.Cys479Gly)
c.1375T>G (p.Cys459Gly)
c.2059T>G (p.Cys687Gly)
c.2029T>G (p.Cys677Gly)
c.1903T>G (p.Cys635Gly)
16g.27363678T=CA2215170752IL4Rc.2326T= (p.Cys776=)
c.2281T= (p.Cys761=)
c.230-425T= (n.230-425T=)
c.*2369T= (n.*2369T=)
c.1846T= (p.Cys616=)
c.1435T= (p.Cys479=)
c.1375T= (p.Cys459=)
c.2059T= (p.Cys687=)
c.2029T= (p.Cys677=)
c.1903T= (p.Cys635=)
16g.27363679G>ACA395305232IL4Rc.2327G>A (p.Cys776Tyr)
c.2282G>A (p.Cys761Tyr)
c.230-424G>A (n.230-424G>A)
c.*2370G>A (n.*2370G>A)
c.1847G>A (p.Cys616Tyr)
c.1436G>A (p.Cys479Tyr)
c.1376G>A (p.Cys459Tyr)
c.2060G>A (p.Cys687Tyr)
c.2030G>A (p.Cys677Tyr)
c.1904G>A (p.Cys635Tyr)
16g.27363679G>CCA395305233IL4Rc.2327G>C (p.Cys776Ser)
c.2282G>C (p.Cys761Ser)
c.230-424G>C (n.230-424G>C)
c.*2370G>C (n.*2370G>C)
c.1847G>C (p.Cys616Ser)
c.1436G>C (p.Cys479Ser)
c.1376G>C (p.Cys459Ser)
c.2060G>C (p.Cys687Ser)
c.2030G>C (p.Cys677Ser)
c.1904G>C (p.Cys635Ser)
16g.27363679G>TCA395305234IL4Rc.2327G>T (p.Cys776Phe)
c.2282G>T (p.Cys761Phe)
c.230-424G>T (n.230-424G>T)
c.*2370G>T (n.*2370G>T)
c.1847G>T (p.Cys616Phe)
c.1436G>T (p.Cys479Phe)
c.1376G>T (p.Cys459Phe)
c.2060G>T (p.Cys687Phe)
c.2030G>T (p.Cys677Phe)
c.1904G>T (p.Cys635Phe)
 gnomAD v4
16g.27363680T>ACA395305237IL4Rc.2328T>A (p.Cys776Ter)
c.2283T>A (p.Cys761Ter)
c.230-423T>A (n.230-423T>A)
c.*2371T>A (n.*2371T>A)
c.1848T>A (p.Cys616Ter)
c.1437T>A (p.Cys479Ter)
c.1377T>A (p.Cys459Ter)
c.2061T>A (p.Cys687Ter)
c.2031T>A (p.Cys677Ter)
c.1905T>A (p.Cys635Ter)
16g.27363680T>CCA494470870IL4Rc.2328T>C (p.Cys776=)
c.2283T>C (p.Cys761=)
c.230-423T>C (n.230-423T>C)
c.*2371T>C (n.*2371T>C)
c.1848T>C (p.Cys616=)
c.1437T>C (p.Cys479=)
c.1377T>C (p.Cys459=)
c.2061T>C (p.Cys687=)
c.2031T>C (p.Cys677=)
c.1905T>C (p.Cys635=)
16g.27363680T>GCA395305240IL4Rc.2328T>G (p.Cys776Trp)
c.2283T>G (p.Cys761Trp)
c.230-423T>G (n.230-423T>G)
c.*2371T>G (n.*2371T>G)
c.1848T>G (p.Cys616Trp)
c.1437T>G (p.Cys479Trp)
c.1377T>G (p.Cys459Trp)
c.2061T>G (p.Cys687Trp)
c.2031T>G (p.Cys677Trp)
c.1905T>G (p.Cys635Trp)
16g.27363681C>ACA395305244IL4Rc.2329C>A (p.Pro777Thr)
c.2284C>A (p.Pro762Thr)
c.230-422C>A (n.230-422C>A)
c.*2372C>A (n.*2372C>A)
c.1849C>A (p.Pro617Thr)
c.1438C>A (p.Pro480Thr)
c.1378C>A (p.Pro460Thr)
c.2062C>A (p.Pro688Thr)
c.2032C>A (p.Pro678Thr)
c.1906C>A (p.Pro636Thr)
16g.27363681C=CA2215170756IL4Rc.2329C= (p.Pro777=)
c.2284C= (p.Pro762=)
c.230-422C= (n.230-422C=)
c.*2372C= (n.*2372C=)
c.1849C= (p.Pro617=)
c.1438C= (p.Pro480=)
c.1378C= (p.Pro460=)
c.2062C= (p.Pro688=)
c.2032C= (p.Pro678=)
c.1906C= (p.Pro636=)
16g.27363681C>GCA395305249IL4Rc.2329C>G (p.Pro777Ala)
c.2284C>G (p.Pro762Ala)
c.230-422C>G (n.230-422C>G)
c.*2372C>G (n.*2372C>G)
c.1849C>G (p.Pro617Ala)
c.1438C>G (p.Pro480Ala)
c.1378C>G (p.Pro460Ala)
c.2062C>G (p.Pro688Ala)
c.2032C>G (p.Pro678Ala)
c.1906C>G (p.Pro636Ala)
16g.27363681C>TCA395305246IL4Rc.2329C>T (p.Pro777Ser)
c.2284C>T (p.Pro762Ser)
c.230-422C>T (n.230-422C>T)
c.*2372C>T (n.*2372C>T)
c.1849C>T (p.Pro617Ser)
c.1438C>T (p.Pro480Ser)
c.1378C>T (p.Pro460Ser)
c.2062C>T (p.Pro688Ser)
c.2032C>T (p.Pro678Ser)
c.1906C>T (p.Pro636Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363682C>ACA395305253IL4Rc.2330C>A (p.Pro777Gln)
c.2285C>A (p.Pro762Gln)
c.230-421C>A (n.230-421C>A)
c.*2373C>A (n.*2373C>A)
c.1850C>A (p.Pro617Gln)
c.1439C>A (p.Pro480Gln)
c.1379C>A (p.Pro460Gln)
c.2063C>A (p.Pro688Gln)
c.2033C>A (p.Pro678Gln)
c.1907C>A (p.Pro636Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.27363682C=CA2215170762IL4Rc.2330C= (p.Pro777=)
c.2285C= (p.Pro762=)
c.230-421C= (n.230-421C=)
c.*2373C= (n.*2373C=)
c.1850C= (p.Pro617=)
c.1439C= (p.Pro480=)
c.1379C= (p.Pro460=)
c.2063C= (p.Pro688=)
c.2033C= (p.Pro678=)
c.1907C= (p.Pro636=)
16g.27363682C>GCA395305263IL4Rc.2330C>G (p.Pro777Arg)
c.2285C>G (p.Pro762Arg)
c.230-421C>G (n.230-421C>G)
c.*2373C>G (n.*2373C>G)
c.1850C>G (p.Pro617Arg)
c.1439C>G (p.Pro480Arg)
c.1379C>G (p.Pro460Arg)
c.2063C>G (p.Pro688Arg)
c.2033C>G (p.Pro678Arg)
c.1907C>G (p.Pro636Arg)
16g.27363682C>TCA7974735IL4Rc.2330C>T (p.Pro777Leu)
c.2285C>T (p.Pro762Leu)
c.230-421C>T (n.230-421C>T)
c.*2373C>T (n.*2373C>T)
c.1850C>T (p.Pro617Leu)
c.1439C>T (p.Pro480Leu)
c.1379C>T (p.Pro460Leu)
c.2063C>T (p.Pro688Leu)
c.2033C>T (p.Pro678Leu)
c.1907C>T (p.Pro636Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363683G>ACA7974736IL4Rc.2331G>A (p.Pro777=)
c.2286G>A (p.Pro762=)
c.230-420G>A (n.230-420G>A)
c.*2374G>A (n.*2374G>A)
c.1851G>A (p.Pro617=)
c.1440G>A (p.Pro480=)
c.1380G>A (p.Pro460=)
c.2064G>A (p.Pro688=)
c.2034G>A (p.Pro678=)
c.1908G>A (p.Pro636=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27363683G>CCA494470872IL4Rc.2331G>C (p.Pro777=)
c.2286G>C (p.Pro762=)
c.230-420G>C (n.230-420G>C)
c.*2374G>C (n.*2374G>C)
c.1851G>C (p.Pro617=)
c.1440G>C (p.Pro480=)
c.1380G>C (p.Pro460=)
c.2064G>C (p.Pro688=)
c.2034G>C (p.Pro678=)
c.1908G>C (p.Pro636=)
16g.27363683G=CA2215170768IL4Rc.2331G= (p.Pro777=)
c.2286G= (p.Pro762=)
c.230-420G= (n.230-420G=)
c.*2374G= (n.*2374G=)
c.1851G= (p.Pro617=)
c.1440G= (p.Pro480=)
c.1380G= (p.Pro460=)
c.2064G= (p.Pro688=)
c.2034G= (p.Pro678=)
c.1908G= (p.Pro636=)
16g.27363683G>TCA494470873IL4Rc.2331G>T (p.Pro777=)
c.2286G>T (p.Pro762=)
c.230-420G>T (n.230-420G>T)
c.*2374G>T (n.*2374G>T)
c.1851G>T (p.Pro617=)
c.1440G>T (p.Pro480=)
c.1380G>T (p.Pro460=)
c.2064G>T (p.Pro688=)
c.2034G>T (p.Pro678=)
c.1908G>T (p.Pro636=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.27363684G>ACA395305278IL4Rc.2332G>A (p.Ala778Thr)
c.2287G>A (p.Ala763Thr)
c.230-419G>A (n.230-419G>A)
c.*2375G>A (n.*2375G>A)
c.1852G>A (p.Ala618Thr)
c.1441G>A (p.Ala481Thr)
c.1381G>A (p.Ala461Thr)
c.2065G>A (p.Ala689Thr)
c.2035G>A (p.Ala679Thr)
c.1909G>A (p.Ala637Thr)
 gnomAD v4
16g.27363684G>CCA395305270IL4Rc.2332G>C (p.Ala778Pro)
c.2287G>C (p.Ala763Pro)
c.230-419G>C (n.230-419G>C)
c.*2375G>C (n.*2375G>C)
c.1852G>C (p.Ala618Pro)
c.1441G>C (p.Ala481Pro)
c.1381G>C (p.Ala461Pro)
c.2065G>C (p.Ala689Pro)
c.2035G>C (p.Ala679Pro)
c.1909G>C (p.Ala637Pro)
 dbSNP
16g.27363684G=CA2215170774IL4Rc.2332G= (p.Ala778=)
c.2287G= (p.Ala763=)
c.230-419G= (n.230-419G=)
c.*2375G= (n.*2375G=)
c.1852G= (p.Ala618=)
c.1441G= (p.Ala481=)
c.1381G= (p.Ala461=)
c.2065G= (p.Ala689=)
c.2035G= (p.Ala679=)
c.1909G= (p.Ala637=)
16g.27363684G>TCA7974737IL4Rc.2332G>T (p.Ala778Ser)
c.2287G>T (p.Ala763Ser)
c.230-419G>T (n.230-419G>T)
c.*2375G>T (n.*2375G>T)
c.1852G>T (p.Ala618Ser)
c.1441G>T (p.Ala481Ser)
c.1381G>T (p.Ala461Ser)
c.2065G>T (p.Ala689Ser)
c.2035G>T (p.Ala679Ser)
c.1909G>T (p.Ala637Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363685C>ACA395305284IL4Rc.2333C>A (p.Ala778Asp)
c.2288C>A (p.Ala763Asp)
c.230-418C>A (n.230-418C>A)
c.*2376C>A (n.*2376C>A)
c.1853C>A (p.Ala618Asp)
c.1442C>A (p.Ala481Asp)
c.1382C>A (p.Ala461Asp)
c.2066C>A (p.Ala689Asp)
c.2036C>A (p.Ala679Asp)
c.1910C>A (p.Ala637Asp)
 dbSNP
16g.27363685C=CA2215170777IL4Rc.2333C= (p.Ala778=)
c.2288C= (p.Ala763=)
c.230-418C= (n.230-418C=)
c.*2376C= (n.*2376C=)
c.1853C= (p.Ala618=)
c.1442C= (p.Ala481=)
c.1382C= (p.Ala461=)
c.2066C= (p.Ala689=)
c.2036C= (p.Ala679=)
c.1910C= (p.Ala637=)
16g.27363685C>GCA395305286IL4Rc.2333C>G (p.Ala778Gly)
c.2288C>G (p.Ala763Gly)
c.230-418C>G (n.230-418C>G)
c.*2376C>G (n.*2376C>G)
c.1853C>G (p.Ala618Gly)
c.1442C>G (p.Ala481Gly)
c.1382C>G (p.Ala461Gly)
c.2066C>G (p.Ala689Gly)
c.2036C>G (p.Ala679Gly)
c.1910C>G (p.Ala637Gly)
16g.27363685C>TCA395305287IL4Rc.2333C>T (p.Ala778Val)
c.2288C>T (p.Ala763Val)
c.230-418C>T (n.230-418C>T)
c.*2376C>T (n.*2376C>T)
c.1853C>T (p.Ala618Val)
c.1442C>T (p.Ala481Val)
c.1382C>T (p.Ala461Val)
c.2066C>T (p.Ala689Val)
c.2036C>T (p.Ala679Val)
c.1910C>T (p.Ala637Val)
 gnomAD v4
16g.27363686C>ACA494470875IL4Rc.2334C>A (p.Ala778=)
c.2289C>A (p.Ala763=)
c.230-417C>A (n.230-417C>A)
c.*2377C>A (n.*2377C>A)
c.1854C>A (p.Ala618=)
c.1443C>A (p.Ala481=)
c.1383C>A (p.Ala461=)
c.2067C>A (p.Ala689=)
c.2037C>A (p.Ala679=)
c.1911C>A (p.Ala637=)
16g.27363686C>GCA494470877IL4Rc.2334C>G (p.Ala778=)
c.2289C>G (p.Ala763=)
c.230-417C>G (n.230-417C>G)
c.*2377C>G (n.*2377C>G)
c.1854C>G (p.Ala618=)
c.1443C>G (p.Ala481=)
c.1383C>G (p.Ala461=)
c.2067C>G (p.Ala689=)
c.2037C>G (p.Ala679=)
c.1911C>G (p.Ala637=)
16g.27363686C>TCA494470878IL4Rc.2334C>T (p.Ala778=)
c.2289C>T (p.Ala763=)
c.230-417C>T (n.230-417C>T)
c.*2377C>T (n.*2377C>T)
c.1854C>T (p.Ala618=)
c.1443C>T (p.Ala481=)
c.1383C>T (p.Ala461=)
c.2067C>T (p.Ala689=)
c.2037C>T (p.Ala679=)
c.1911C>T (p.Ala637=)
 gnomAD v4
16g.27363687T>ACA395305288IL4Rc.2335T>A (p.Ser779Thr)
c.2290T>A (p.Ser764Thr)
c.230-416T>A (n.230-416T>A)
c.*2378T>A (n.*2378T>A)
c.1855T>A (p.Ser619Thr)
c.1444T>A (p.Ser482Thr)
c.1384T>A (p.Ser462Thr)
c.2068T>A (p.Ser690Thr)
c.2038T>A (p.Ser680Thr)
c.1912T>A (p.Ser638Thr)
16g.27363687T>CCA395305290IL4Rc.2335T>C (p.Ser779Pro)
c.2290T>C (p.Ser764Pro)
c.230-416T>C (n.230-416T>C)
c.*2378T>C (n.*2378T>C)
c.1855T>C (p.Ser619Pro)
c.1444T>C (p.Ser482Pro)
c.1384T>C (p.Ser462Pro)
c.2068T>C (p.Ser690Pro)
c.2038T>C (p.Ser680Pro)
c.1912T>C (p.Ser638Pro)
16g.27363687T>GCA395305292IL4Rc.2335T>G (p.Ser779Ala)
c.2290T>G (p.Ser764Ala)
c.230-416T>G (n.230-416T>G)
c.*2378T>G (n.*2378T>G)
c.1855T>G (p.Ser619Ala)
c.1444T>G (p.Ser482Ala)
c.1384T>G (p.Ser462Ala)
c.2068T>G (p.Ser690Ala)
c.2038T>G (p.Ser680Ala)
c.1912T>G (p.Ser638Ala)
16g.27363688C>ACA395305297IL4Rc.2336C>A (p.Ser779Tyr)
c.2291C>A (p.Ser764Tyr)
c.230-415C>A (n.230-415C>A)
c.*2379C>A (n.*2379C>A)
c.1856C>A (p.Ser619Tyr)
c.1445C>A (p.Ser482Tyr)
c.1385C>A (p.Ser462Tyr)
c.2069C>A (p.Ser690Tyr)
c.2039C>A (p.Ser680Tyr)
c.1913C>A (p.Ser638Tyr)
16g.27363688C>GCA395305300IL4Rc.2336C>G (p.Ser779Cys)
c.2291C>G (p.Ser764Cys)
c.230-415C>G (n.230-415C>G)
c.*2379C>G (n.*2379C>G)
c.1856C>G (p.Ser619Cys)
c.1445C>G (p.Ser482Cys)
c.1385C>G (p.Ser462Cys)
c.2069C>G (p.Ser690Cys)
c.2039C>G (p.Ser680Cys)
c.1913C>G (p.Ser638Cys)
16g.27363688C>TCA395305302IL4Rc.2336C>T (p.Ser779Phe)
c.2291C>T (p.Ser764Phe)
c.230-415C>T (n.230-415C>T)
c.*2379C>T (n.*2379C>T)
c.1856C>T (p.Ser619Phe)
c.1445C>T (p.Ser482Phe)
c.1385C>T (p.Ser462Phe)
c.2069C>T (p.Ser690Phe)
c.2039C>T (p.Ser680Phe)
c.1913C>T (p.Ser638Phe)
16g.27363689C>ACA494470886IL4Rc.2337C>A (p.Ser779=)
c.2292C>A (p.Ser764=)
c.230-414C>A (n.230-414C>A)
c.*2380C>A (n.*2380C>A)
c.1857C>A (p.Ser619=)
c.1446C>A (p.Ser482=)
c.1386C>A (p.Ser462=)
c.2070C>A (p.Ser690=)
c.2040C>A (p.Ser680=)
c.1914C>A (p.Ser638=)
 dbSNP gnomAD v2 gnomAD v4
16g.27363689C=CA2215170780IL4Rc.2337C= (p.Ser779=)
c.2292C= (p.Ser764=)
c.230-414C= (n.230-414C=)
c.*2380C= (n.*2380C=)
c.1857C= (p.Ser619=)
c.1446C= (p.Ser482=)
c.1386C= (p.Ser462=)
c.2070C= (p.Ser690=)
c.2040C= (p.Ser680=)
c.1914C= (p.Ser638=)
16g.27363689C>GCA494470884IL4Rc.2337C>G (p.Ser779=)
c.2292C>G (p.Ser764=)
c.230-414C>G (n.230-414C>G)
c.*2380C>G (n.*2380C>G)
c.1857C>G (p.Ser619=)
c.1446C>G (p.Ser482=)
c.1386C>G (p.Ser462=)
c.2070C>G (p.Ser690=)
c.2040C>G (p.Ser680=)
c.1914C>G (p.Ser638=)
16g.27363689C>TCA494470885IL4Rc.2337C>T (p.Ser779=)
c.2292C>T (p.Ser764=)
c.230-414C>T (n.230-414C>T)
c.*2380C>T (n.*2380C>T)
c.1857C>T (p.Ser619=)
c.1446C>T (p.Ser482=)
c.1386C>T (p.Ser462=)
c.2070C>T (p.Ser690=)
c.2040C>T (p.Ser680=)
c.1914C>T (p.Ser638=)
 COSMIC
16g.27363690C>ACA395305304IL4Rc.2338C>A (p.Leu780Met)
c.2293C>A (p.Leu765Met)
c.230-413C>A (n.230-413C>A)
c.*2381C>A (n.*2381C>A)
c.1858C>A (p.Leu620Met)
c.1447C>A (p.Leu483Met)
c.1387C>A (p.Leu463Met)
c.2071C>A (p.Leu691Met)
c.2041C>A (p.Leu681Met)
c.1915C>A (p.Leu639Met)
16g.27363690C>GCA395305306IL4Rc.2338C>G (p.Leu780Val)
c.2293C>G (p.Leu765Val)
c.230-413C>G (n.230-413C>G)
c.*2381C>G (n.*2381C>G)
c.1858C>G (p.Leu620Val)
c.1447C>G (p.Leu483Val)
c.1387C>G (p.Leu463Val)
c.2071C>G (p.Leu691Val)
c.2041C>G (p.Leu681Val)
c.1915C>G (p.Leu639Val)
16g.27363690C>TCA494470887IL4Rc.2338C>T (p.Leu780=)
c.2293C>T (p.Leu765=)
c.230-413C>T (n.230-413C>T)
c.*2381C>T (n.*2381C>T)
c.1858C>T (p.Leu620=)
c.1447C>T (p.Leu483=)
c.1387C>T (p.Leu463=)
c.2071C>T (p.Leu691=)
c.2041C>T (p.Leu681=)
c.1915C>T (p.Leu639=)
 gnomAD v4
16g.27363691T>ACA395305307IL4Rc.2339T>A (p.Leu780Gln)
c.2294T>A (p.Leu765Gln)
c.230-412T>A (n.230-412T>A)
c.*2382T>A (n.*2382T>A)
c.1859T>A (p.Leu620Gln)
c.1448T>A (p.Leu483Gln)
c.1388T>A (p.Leu463Gln)
c.2072T>A (p.Leu691Gln)
c.2042T>A (p.Leu681Gln)
c.1916T>A (p.Leu639Gln)
16g.27363691T>CCA395305310IL4Rc.2339T>C (p.Leu780Pro)
c.2294T>C (p.Leu765Pro)
c.230-412T>C (n.230-412T>C)
c.*2382T>C (n.*2382T>C)
c.1859T>C (p.Leu620Pro)
c.1448T>C (p.Leu483Pro)
c.1388T>C (p.Leu463Pro)
c.2072T>C (p.Leu691Pro)
c.2042T>C (p.Leu681Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
16g.27363691T>GCA395305308IL4Rc.2339T>G (p.Leu780Arg)
c.2294T>G (p.Leu765Arg)
c.230-412T>G (n.230-412T>G)
c.*2382T>G (n.*2382T>G)
c.1859T>G (p.Leu620Arg)
c.1448T>G (p.Leu483Arg)
c.1388T>G (p.Leu463Arg)
c.2072T>G (p.Leu691Arg)
c.2042T>G (p.Leu681Arg)
c.1916T>G (p.Leu639Arg)
16g.27363692G>ACA494470889IL4Rc.2340G>A (p.Leu780=)
c.2295G>A (p.Leu765=)
c.230-411G>A (n.230-411G>A)
c.*2383G>A (n.*2383G>A)
c.1860G>A (p.Leu620=)
c.1449G>A (p.Leu483=)
c.1389G>A (p.Leu463=)
c.2073G>A (p.Leu691=)
c.2043G>A (p.Leu681=)
c.1917G>A (p.Leu639=)
16g.27363692G>CCA7974738IL4Rc.2340G>C (p.Leu780=)
c.2295G>C (p.Leu765=)
c.230-411G>C (n.230-411G>C)
c.*2383G>C (n.*2383G>C)
c.1860G>C (p.Leu620=)
c.1449G>C (p.Leu483=)
c.1389G>C (p.Leu463=)
c.2073G>C (p.Leu691=)
c.2043G>C (p.Leu681=)
c.1917G>C (p.Leu639=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363692G=CA2215170785IL4Rc.2340G= (p.Leu780=)
c.2295G= (p.Leu765=)
c.230-411G= (n.230-411G=)
c.*2383G= (n.*2383G=)
c.1860G= (p.Leu620=)
c.1449G= (p.Leu483=)
c.1389G= (p.Leu463=)
c.2073G= (p.Leu691=)
c.2043G= (p.Leu681=)
c.1917G= (p.Leu639=)
16g.27363692G>TCA494470891IL4Rc.2340G>T (p.Leu780=)
c.2295G>T (p.Leu765=)
c.230-411G>T (n.230-411G>T)
c.*2383G>T (n.*2383G>T)
c.1860G>T (p.Leu620=)
c.1449G>T (p.Leu483=)
c.1389G>T (p.Leu463=)
c.2073G>T (p.Leu691=)
c.2043G>T (p.Leu681=)
c.1917G>T (p.Leu639=)
16g.27363693G>ACA395305311IL4Rc.2341G>A (p.Ala781Thr)
c.2296G>A (p.Ala766Thr)
c.230-410G>A (n.230-410G>A)
c.*2384G>A (n.*2384G>A)
c.1861G>A (p.Ala621Thr)
c.1450G>A (p.Ala484Thr)
c.1390G>A (p.Ala464Thr)
c.2074G>A (p.Ala692Thr)
c.2044G>A (p.Ala682Thr)
c.1918G>A (p.Ala640Thr)
16g.27363693G>CCA395305312IL4Rc.2341G>C (p.Ala781Pro)
c.2296G>C (p.Ala766Pro)
c.230-410G>C (n.230-410G>C)
c.*2384G>C (n.*2384G>C)
c.1861G>C (p.Ala621Pro)
c.1450G>C (p.Ala484Pro)
c.1390G>C (p.Ala464Pro)
c.2074G>C (p.Ala692Pro)
c.2044G>C (p.Ala682Pro)
c.1918G>C (p.Ala640Pro)
 dbSNP
16g.27363693G>TCA395305313IL4Rc.2341G>T (p.Ala781Ser)
c.2296G>T (p.Ala766Ser)
c.230-410G>T (n.230-410G>T)
c.*2384G>T (n.*2384G>T)
c.1861G>T (p.Ala621Ser)
c.1450G>T (p.Ala484Ser)
c.1390G>T (p.Ala464Ser)
c.2074G>T (p.Ala692Ser)
c.2044G>T (p.Ala682Ser)
c.1918G>T (p.Ala640Ser)
16g.27363694C>ACA395305316IL4Rc.2342C>A (p.Ala781Glu)
c.2297C>A (p.Ala766Glu)
c.230-409C>A (n.230-409C>A)
c.*2385C>A (n.*2385C>A)
c.1862C>A (p.Ala621Glu)
c.1451C>A (p.Ala484Glu)
c.1391C>A (p.Ala464Glu)
c.2075C>A (p.Ala692Glu)
c.2045C>A (p.Ala682Glu)
c.1919C>A (p.Ala640Glu)
16g.27363694C=CA2215170790IL4Rc.2342C= (p.Ala781=)
c.2297C= (p.Ala766=)
c.230-409C= (n.230-409C=)
c.*2385C= (n.*2385C=)
c.1862C= (p.Ala621=)
c.1451C= (p.Ala484=)
c.1391C= (p.Ala464=)
c.2075C= (p.Ala692=)
c.2045C= (p.Ala682=)
c.1919C= (p.Ala640=)
16g.27363694C>GCA395305318IL4Rc.2342C>G (p.Ala781Gly)
c.2297C>G (p.Ala766Gly)
c.230-409C>G (n.230-409C>G)
c.*2385C>G (n.*2385C>G)
c.1862C>G (p.Ala621Gly)
c.1451C>G (p.Ala484Gly)
c.1391C>G (p.Ala464Gly)
c.2075C>G (p.Ala692Gly)
c.2045C>G (p.Ala682Gly)
c.1919C>G (p.Ala640Gly)
16g.27363694C>TCA7974739IL4Rc.2342C>T (p.Ala781Val)
c.2297C>T (p.Ala766Val)
c.230-409C>T (n.230-409C>T)
c.*2385C>T (n.*2385C>T)
c.1862C>T (p.Ala621Val)
c.1451C>T (p.Ala484Val)
c.1391C>T (p.Ala464Val)
c.2075C>T (p.Ala692Val)
c.2045C>T (p.Ala682Val)
c.1919C>T (p.Ala640Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363695A>CCA494470895IL4Rc.2343A>C (p.Ala781=)
c.2298A>C (p.Ala766=)
c.230-408A>C (n.230-408A>C)
c.*2386A>C (n.*2386A>C)
c.1863A>C (p.Ala621=)
c.1452A>C (p.Ala484=)
c.1392A>C (p.Ala464=)
c.2076A>C (p.Ala692=)
c.2046A>C (p.Ala682=)
c.1920A>C (p.Ala640=)
16g.27363695A>GCA494470897IL4Rc.2343A>G (p.Ala781=)
c.2298A>G (p.Ala766=)
c.230-408A>G (n.230-408A>G)
c.*2386A>G (n.*2386A>G)
c.1863A>G (p.Ala621=)
c.1452A>G (p.Ala484=)
c.1392A>G (p.Ala464=)
c.2076A>G (p.Ala692=)
c.2046A>G (p.Ala682=)
c.1920A>G (p.Ala640=)
16g.27363695A>TCA494470898IL4Rc.2343A>T (p.Ala781=)
c.2298A>T (p.Ala766=)
c.230-408A>T (n.230-408A>T)
c.*2386A>T (n.*2386A>T)
c.1863A>T (p.Ala621=)
c.1452A>T (p.Ala484=)
c.1392A>T (p.Ala464=)
c.2076A>T (p.Ala692=)
c.2046A>T (p.Ala682=)
c.1920A>T (p.Ala640=)
16g.27363696C>ACA395305320IL4Rc.2344C>A (p.Pro782Thr)
c.2299C>A (p.Pro767Thr)
c.230-407C>A (n.230-407C>A)
c.*2387C>A (n.*2387C>A)
c.1864C>A (p.Pro622Thr)
c.1453C>A (p.Pro485Thr)
c.1393C>A (p.Pro465Thr)
c.2077C>A (p.Pro693Thr)
c.2047C>A (p.Pro683Thr)
c.1921C>A (p.Pro641Thr)
16g.27363696C=CA2215170793IL4Rc.2344C= (p.Pro782=)
c.2299C= (p.Pro767=)
c.230-407C= (n.230-407C=)
c.*2387C= (n.*2387C=)
c.1864C= (p.Pro622=)
c.1453C= (p.Pro485=)
c.1393C= (p.Pro465=)
c.2077C= (p.Pro693=)
c.2047C= (p.Pro683=)
c.1921C= (p.Pro641=)
16g.27363696C>GCA395305321IL4Rc.2344C>G (p.Pro782Ala)
c.2299C>G (p.Pro767Ala)
c.230-407C>G (n.230-407C>G)
c.*2387C>G (n.*2387C>G)
c.1864C>G (p.Pro622Ala)
c.1453C>G (p.Pro485Ala)
c.1393C>G (p.Pro465Ala)
c.2077C>G (p.Pro693Ala)
c.2047C>G (p.Pro683Ala)
c.1921C>G (p.Pro641Ala)
 gnomAD v4
16g.27363696C>TCA7974740IL4Rc.2344C>T (p.Pro782Ser)
c.2299C>T (p.Pro767Ser)
c.230-407C>T (n.230-407C>T)
c.*2387C>T (n.*2387C>T)
c.1864C>T (p.Pro622Ser)
c.1453C>T (p.Pro485Ser)
c.1393C>T (p.Pro465Ser)
c.2077C>T (p.Pro693Ser)
c.2047C>T (p.Pro683Ser)
c.1921C>T (p.Pro641Ser)
 dbSNP ExAC gnomAD v2
16g.27363698delCA2632431258IL4Rc.2346del (p.Ser783ArgfsTer?)
c.2301del (p.Ser768ArgfsTer?)
c.230-405del (n.230-405del)
c.*2389del (n.*2389del)
c.1866del (p.Ser623ArgfsTer?)
c.1455del (p.Ser486ArgfsTer?)
c.1395del (p.Ser466ArgfsTer?)
c.2079del (p.Ser694ArgfsTer?)
c.2049del (p.Ser684ArgfsTer?)
c.1923del (p.Ser642ArgfsTer?)
 gnomAD v4
16g.27363697C>ACA395305329IL4Rc.2345C>A (p.Pro782His)
c.2300C>A (p.Pro767His)
c.230-406C>A (n.230-406C>A)
c.*2388C>A (n.*2388C>A)
c.1865C>A (p.Pro622His)
c.1454C>A (p.Pro485His)
c.1394C>A (p.Pro465His)
c.2078C>A (p.Pro693His)
c.2048C>A (p.Pro683His)
c.1922C>A (p.Pro641His)
16g.27363697C>GCA395305327IL4Rc.2345C>G (p.Pro782Arg)
c.2300C>G (p.Pro767Arg)
c.230-406C>G (n.230-406C>G)
c.*2388C>G (n.*2388C>G)
c.1865C>G (p.Pro622Arg)
c.1454C>G (p.Pro485Arg)
c.1394C>G (p.Pro465Arg)
c.2078C>G (p.Pro693Arg)
c.2048C>G (p.Pro683Arg)
c.1922C>G (p.Pro641Arg)
16g.27363697C>TCA395305325IL4Rc.2345C>T (p.Pro782Leu)
c.2300C>T (p.Pro767Leu)
c.230-406C>T (n.230-406C>T)
c.*2388C>T (n.*2388C>T)
c.1865C>T (p.Pro622Leu)
c.1454C>T (p.Pro485Leu)
c.1394C>T (p.Pro465Leu)
c.2078C>T (p.Pro693Leu)
c.2048C>T (p.Pro683Leu)
c.1922C>T (p.Pro641Leu)
 gnomAD v4
16g.27363698C>ACA494470904IL4Rc.2346C>A (p.Pro782=)
c.2301C>A (p.Pro767=)
c.230-405C>A (n.230-405C>A)
c.*2389C>A (n.*2389C>A)
c.1866C>A (p.Pro622=)
c.1455C>A (p.Pro485=)
c.1395C>A (p.Pro465=)
c.2079C>A (p.Pro693=)
c.2049C>A (p.Pro683=)
c.1923C>A (p.Pro641=)
16g.27363698C>GCA494470905IL4Rc.2346C>G (p.Pro782=)
c.2301C>G (p.Pro767=)
c.230-405C>G (n.230-405C>G)
c.*2389C>G (n.*2389C>G)
c.1866C>G (p.Pro622=)
c.1455C>G (p.Pro485=)
c.1395C>G (p.Pro465=)
c.2079C>G (p.Pro693=)
c.2049C>G (p.Pro683=)
c.1923C>G (p.Pro641=)
16g.27363698C>TCA494470906IL4Rc.2346C>T (p.Pro782=)
c.2301C>T (p.Pro767=)
c.230-405C>T (n.230-405C>T)
c.*2389C>T (n.*2389C>T)
c.1866C>T (p.Pro622=)
c.1455C>T (p.Pro485=)
c.1395C>T (p.Pro465=)
c.2079C>T (p.Pro693=)
c.2049C>T (p.Pro683=)
c.1923C>T (p.Pro641=)
 COSMIC
16g.27363699T>ACA395305331IL4Rc.2347T>A (p.Ser783Thr)
c.2302T>A (p.Ser768Thr)
c.230-404T>A (n.230-404T>A)
c.*2390T>A (n.*2390T>A)
c.1867T>A (p.Ser623Thr)
c.1456T>A (p.Ser486Thr)
c.1396T>A (p.Ser466Thr)
c.2080T>A (p.Ser694Thr)
c.2050T>A (p.Ser684Thr)
c.1924T>A (p.Ser642Thr)
16g.27363699T>CCA395305333IL4Rc.2347T>C (p.Ser783Pro)
c.2302T>C (p.Ser768Pro)
c.230-404T>C (n.230-404T>C)
c.*2390T>C (n.*2390T>C)
c.1867T>C (p.Ser623Pro)
c.1456T>C (p.Ser486Pro)
c.1396T>C (p.Ser466Pro)
c.2080T>C (p.Ser694Pro)
c.2050T>C (p.Ser684Pro)
c.1924T>C (p.Ser642Pro)
16g.27363699T>GCA395305335IL4Rc.2347T>G (p.Ser783Ala)
c.2302T>G (p.Ser768Ala)
c.230-404T>G (n.230-404T>G)
c.*2390T>G (n.*2390T>G)
c.1867T>G (p.Ser623Ala)
c.1456T>G (p.Ser486Ala)
c.1396T>G (p.Ser466Ala)
c.2080T>G (p.Ser694Ala)
c.2050T>G (p.Ser684Ala)
c.1924T>G (p.Ser642Ala)
16g.27363700C>ACA395305338IL4Rc.2348C>A (p.Ser783Ter)
c.2303C>A (p.Ser768Ter)
c.230-403C>A (n.230-403C>A)
c.*2391C>A (n.*2391C>A)
c.1868C>A (p.Ser623Ter)
c.1457C>A (p.Ser486Ter)
c.1397C>A (p.Ser466Ter)
c.2081C>A (p.Ser694Ter)
c.2051C>A (p.Ser684Ter)
c.1925C>A (p.Ser642Ter)
16g.27363700C=CA2215170799IL4Rc.2348C= (p.Ser783=)
c.2303C= (p.Ser768=)
c.230-403C= (n.230-403C=)
c.*2391C= (n.*2391C=)
c.1868C= (p.Ser623=)
c.1457C= (p.Ser486=)
c.1397C= (p.Ser466=)
c.2081C= (p.Ser694=)
c.2051C= (p.Ser684=)
c.1925C= (p.Ser642=)
16g.27363700C>GCA395305339IL4Rc.2348C>G (p.Ser783Trp)
c.2303C>G (p.Ser768Trp)
c.230-403C>G (n.230-403C>G)
c.*2391C>G (n.*2391C>G)
c.1868C>G (p.Ser623Trp)
c.1457C>G (p.Ser486Trp)
c.1397C>G (p.Ser466Trp)
c.2081C>G (p.Ser694Trp)
c.2051C>G (p.Ser684Trp)
c.1925C>G (p.Ser642Trp)
16g.27363700C>TCA7974741IL4Rc.2348C>T (p.Ser783Leu)
c.2303C>T (p.Ser768Leu)
c.230-403C>T (n.230-403C>T)
c.*2391C>T (n.*2391C>T)
c.1868C>T (p.Ser623Leu)
c.1457C>T (p.Ser486Leu)
c.1397C>T (p.Ser466Leu)
c.2081C>T (p.Ser694Leu)
c.2051C>T (p.Ser684Leu)
c.1925C>T (p.Ser642Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.27363700_27363701delinsCGCA2215170805IL4Rc.2348_2349delinsCG (p.Ser783=)
c.2303_2304delinsCG (p.Ser768=)
c.230-403_230-402delinsCG (n.230-403_230-402delinsCG)
c.*2391_*2392delinsCG (n.*2391_*2392delinsCG)
c.1868_1869delinsCG (p.Ser623=)
c.1457_1458delinsCG (p.Ser486=)
c.1397_1398delinsCG (p.Ser466=)
c.2081_2082delinsCG (p.Ser694=)
c.2051_2052delinsCG (p.Ser684=)
c.1925_1926delinsCG (p.Ser642=)
16g.27363701G>ACA7974742IL4Rc.2349G>A (p.Ser783=)
c.2304G>A (p.Ser768=)
c.230-402G>A (n.230-402G>A)
c.*2392G>A (n.*2392G>A)
c.1869G>A (p.Ser623=)
c.1458G>A (p.Ser486=)
c.1398G>A (p.Ser466=)
c.2082G>A (p.Ser694=)
c.2052G>A (p.Ser684=)
c.1926G>A (p.Ser642=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363701G>CCA494470907IL4Rc.2349G>C (p.Ser783=)
c.2304G>C (p.Ser768=)
c.230-402G>C (n.230-402G>C)
c.*2392G>C (n.*2392G>C)
c.1869G>C (p.Ser623=)
c.1458G>C (p.Ser486=)
c.1398G>C (p.Ser466=)
c.2082G>C (p.Ser694=)
c.2052G>C (p.Ser684=)
c.1926G>C (p.Ser642=)
16g.27363701G=CA2215170812IL4Rc.2349G= (p.Ser783=)
c.2304G= (p.Ser768=)
c.230-402G= (n.230-402G=)
c.*2392G= (n.*2392G=)
c.1869G= (p.Ser623=)
c.1458G= (p.Ser486=)
c.1398G= (p.Ser466=)
c.2082G= (p.Ser694=)
c.2052G= (p.Ser684=)
c.1926G= (p.Ser642=)
16g.27363701G>TCA494470909IL4Rc.2349G>T (p.Ser783=)
c.2304G>T (p.Ser768=)
c.230-402G>T (n.230-402G>T)
c.*2392G>T (n.*2392G>T)
c.1869G>T (p.Ser623=)
c.1458G>T (p.Ser486=)
c.1398G>T (p.Ser466=)
c.2082G>T (p.Ser694=)
c.2052G>T (p.Ser684=)
c.1926G>T (p.Ser642=)
 gnomAD v4
16g.27363703delCA2215170808IL4Rc.2351del (p.Gly784AlafsTer29)
c.2306del (p.Gly769AlafsTer29)
c.230-400del (n.230-400del)
c.*2394del (n.*2394del)
c.1871del (p.Gly624AlafsTer29)
c.1460del (p.Gly487AlafsTer29)
c.1400del (p.Gly467AlafsTer29)
c.2084del (p.Gly695AlafsTer29)
c.2054del (p.Gly685AlafsTer29)
c.1928del (p.Gly643AlafsTer29)
 dbSNP
16g.27363702G>ACA395305346IL4Rc.2350G>A (p.Gly784Ser)
c.2305G>A (p.Gly769Ser)
c.230-401G>A (n.230-401G>A)
c.*2393G>A (n.*2393G>A)
c.1870G>A (p.Gly624Ser)
c.1459G>A (p.Gly487Ser)
c.1399G>A (p.Gly467Ser)
c.2083G>A (p.Gly695Ser)
c.2053G>A (p.Gly685Ser)
c.1927G>A (p.Gly643Ser)
 ClinVar
16g.27363702G>CCA395305348IL4Rc.2350G>C (p.Gly784Arg)
c.2305G>C (p.Gly769Arg)
c.230-401G>C (n.230-401G>C)
c.*2393G>C (n.*2393G>C)
c.1870G>C (p.Gly624Arg)
c.1459G>C (p.Gly487Arg)
c.1399G>C (p.Gly467Arg)
c.2083G>C (p.Gly695Arg)
c.2053G>C (p.Gly685Arg)
c.1927G>C (p.Gly643Arg)
16g.27363702G>TCA395305350IL4Rc.2350G>T (p.Gly784Cys)
c.2305G>T (p.Gly769Cys)
c.230-401G>T (n.230-401G>T)
c.*2393G>T (n.*2393G>T)
c.1870G>T (p.Gly624Cys)
c.1459G>T (p.Gly487Cys)
c.1399G>T (p.Gly467Cys)
c.2083G>T (p.Gly695Cys)
c.2053G>T (p.Gly685Cys)
c.1927G>T (p.Gly643Cys)
16g.27363703G>ACA395305354IL4Rc.2351G>A (p.Gly784Asp)
c.2306G>A (p.Gly769Asp)
c.230-400G>A (n.230-400G>A)
c.*2394G>A (n.*2394G>A)
c.1871G>A (p.Gly624Asp)
c.1460G>A (p.Gly487Asp)
c.1400G>A (p.Gly467Asp)
c.2084G>A (p.Gly695Asp)
c.2054G>A (p.Gly685Asp)
c.1928G>A (p.Gly643Asp)
 dbSNP
16g.27363703G>CCA395305356IL4Rc.2351G>C (p.Gly784Ala)
c.2306G>C (p.Gly769Ala)
c.230-400G>C (n.230-400G>C)
c.*2394G>C (n.*2394G>C)
c.1871G>C (p.Gly624Ala)
c.1460G>C (p.Gly487Ala)
c.1400G>C (p.Gly467Ala)
c.2084G>C (p.Gly695Ala)
c.2054G>C (p.Gly685Ala)
c.1928G>C (p.Gly643Ala)
 dbSNP
16g.27363703G=CA2215170816IL4Rc.2351G= (p.Gly784=)
c.2306G= (p.Gly769=)
c.230-400G= (n.230-400G=)
c.*2394G= (n.*2394G=)
c.1871G= (p.Gly624=)
c.1460G= (p.Gly487=)
c.1400G= (p.Gly467=)
c.2084G= (p.Gly695=)
c.2054G= (p.Gly685=)
c.1928G= (p.Gly643=)
16g.27363703G>TCA395305358IL4Rc.2351G>T (p.Gly784Val)
c.2306G>T (p.Gly769Val)
c.230-400G>T (n.230-400G>T)
c.*2394G>T (n.*2394G>T)
c.1871G>T (p.Gly624Val)
c.1460G>T (p.Gly487Val)
c.1400G>T (p.Gly467Val)
c.2084G>T (p.Gly695Val)
c.2054G>T (p.Gly685Val)
c.1928G>T (p.Gly643Val)
 gnomAD v4
16g.27363704C>ACA494470920IL4Rc.2352C>A (p.Gly784=)
c.2307C>A (p.Gly769=)
c.230-399C>A (n.230-399C>A)
c.*2395C>A (n.*2395C>A)
c.1872C>A (p.Gly624=)
c.1461C>A (p.Gly487=)
c.1401C>A (p.Gly467=)
c.2085C>A (p.Gly695=)
c.2055C>A (p.Gly685=)
c.1929C>A (p.Gly643=)
16g.27363704C=CA2215170820IL4Rc.2352C= (p.Gly784=)
c.2307C= (p.Gly769=)
c.230-399C= (n.230-399C=)
c.*2395C= (n.*2395C=)
c.1872C= (p.Gly624=)
c.1461C= (p.Gly487=)
c.1401C= (p.Gly467=)
c.2085C= (p.Gly695=)
c.2055C= (p.Gly685=)
c.1929C= (p.Gly643=)
16g.27363704C>GCA494470923IL4Rc.2352C>G (p.Gly784=)
c.2307C>G (p.Gly769=)
c.230-399C>G (n.230-399C>G)
c.*2395C>G (n.*2395C>G)
c.1872C>G (p.Gly624=)
c.1461C>G (p.Gly487=)
c.1401C>G (p.Gly467=)
c.2085C>G (p.Gly695=)
c.2055C>G (p.Gly685=)
c.1929C>G (p.Gly643=)
16g.27363704C>TCA7974743IL4Rc.2352C>T (p.Gly784=)
c.2307C>T (p.Gly769=)
c.230-399C>T (n.230-399C>T)
c.*2395C>T (n.*2395C>T)
c.1872C>T (p.Gly624=)
c.1461C>T (p.Gly487=)
c.1401C>T (p.Gly467=)
c.2085C>T (p.Gly695=)
c.2055C>T (p.Gly685=)
c.1929C>T (p.Gly643=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363705A=CA2215170828IL4Rc.2353A= (p.Ile785=)
c.2308A= (p.Ile770=)
c.230-398A= (n.230-398A=)
c.*2396A= (n.*2396A=)
c.1873A= (p.Ile625=)
c.1462A= (p.Ile488=)
c.1402A= (p.Ile468=)
c.2086A= (p.Ile696=)
c.2056A= (p.Ile686=)
c.1930A= (p.Ile644=)
16g.27363705A>CCA395305367IL4Rc.2353A>C (p.Ile785Leu)
c.2308A>C (p.Ile770Leu)
c.230-398A>C (n.230-398A>C)
c.*2396A>C (n.*2396A>C)
c.1873A>C (p.Ile625Leu)
c.1462A>C (p.Ile488Leu)
c.1402A>C (p.Ile468Leu)
c.2086A>C (p.Ile696Leu)
c.2056A>C (p.Ile686Leu)
c.1930A>C (p.Ile644Leu)
16g.27363705A>GCA279687999IL4Rc.2353A>G (p.Ile785Val)
c.2308A>G (p.Ile770Val)
c.230-398A>G (n.230-398A>G)
c.*2396A>G (n.*2396A>G)
c.1873A>G (p.Ile625Val)
c.1462A>G (p.Ile488Val)
c.1402A>G (p.Ile468Val)
c.2086A>G (p.Ile696Val)
c.2056A>G (p.Ile686Val)
c.1930A>G (p.Ile644Val)
 dbSNP gnomAD v3 gnomAD v4
16g.27363705A>TCA395305370IL4Rc.2353A>T (p.Ile785Phe)
c.2308A>T (p.Ile770Phe)
c.230-398A>T (n.230-398A>T)
c.*2396A>T (n.*2396A>T)
c.1873A>T (p.Ile625Phe)
c.1462A>T (p.Ile488Phe)
c.1402A>T (p.Ile468Phe)
c.2086A>T (p.Ile696Phe)
c.2056A>T (p.Ile686Phe)
c.1930A>T (p.Ile644Phe)
16g.27363706T>ACA395305373IL4Rc.2354T>A (p.Ile785Asn)
c.2309T>A (p.Ile770Asn)
c.230-397T>A (n.230-397T>A)
c.*2397T>A (n.*2397T>A)
c.1874T>A (p.Ile625Asn)
c.1463T>A (p.Ile488Asn)
c.1403T>A (p.Ile468Asn)
c.2087T>A (p.Ile696Asn)
c.2057T>A (p.Ile686Asn)
c.1931T>A (p.Ile644Asn)
16g.27363706T>CCA395305375IL4Rc.2354T>C (p.Ile785Thr)
c.2309T>C (p.Ile770Thr)
c.230-397T>C (n.230-397T>C)
c.*2397T>C (n.*2397T>C)
c.1874T>C (p.Ile625Thr)
c.1463T>C (p.Ile488Thr)
c.1403T>C (p.Ile468Thr)
c.2087T>C (p.Ile696Thr)
c.2057T>C (p.Ile686Thr)
c.1931T>C (p.Ile644Thr)
16g.27363706T>GCA395305376IL4Rc.2354T>G (p.Ile785Ser)
c.2309T>G (p.Ile770Ser)
c.230-397T>G (n.230-397T>G)
c.*2397T>G (n.*2397T>G)
c.1874T>G (p.Ile625Ser)
c.1463T>G (p.Ile488Ser)
c.1403T>G (p.Ile468Ser)
c.2087T>G (p.Ile696Ser)
c.2057T>G (p.Ile686Ser)
c.1931T>G (p.Ile644Ser)
16g.27363707C>ACA494470927IL4Rc.2355C>A (p.Ile785=)
c.2310C>A (p.Ile770=)
c.230-396C>A (n.230-396C>A)
c.*2398C>A (n.*2398C>A)
c.1875C>A (p.Ile625=)
c.1464C>A (p.Ile488=)
c.1404C>A (p.Ile468=)
c.2088C>A (p.Ile696=)
c.2058C>A (p.Ile686=)
c.1932C>A (p.Ile644=)
16g.27363707C>GCA395305381IL4Rc.2355C>G (p.Ile785Met)
c.2310C>G (p.Ile770Met)
c.230-396C>G (n.230-396C>G)
c.*2398C>G (n.*2398C>G)
c.1875C>G (p.Ile625Met)
c.1464C>G (p.Ile488Met)
c.1404C>G (p.Ile468Met)
c.2088C>G (p.Ile696Met)
c.2058C>G (p.Ile686Met)
c.1932C>G (p.Ile644Met)
16g.27363707C>TCA494470930IL4Rc.2355C>T (p.Ile785=)
c.2310C>T (p.Ile770=)
c.230-396C>T (n.230-396C>T)
c.*2398C>T (n.*2398C>T)
c.1875C>T (p.Ile625=)
c.1464C>T (p.Ile488=)
c.1404C>T (p.Ile468=)
c.2088C>T (p.Ile696=)
c.2058C>T (p.Ile686=)
c.1932C>T (p.Ile644=)
16g.27363708T>ACA395305382IL4Rc.2356T>A (p.Ser786Thr)
c.2311T>A (p.Ser771Thr)
c.230-395T>A (n.230-395T>A)
c.*2399T>A (n.*2399T>A)
c.1876T>A (p.Ser626Thr)
c.1465T>A (p.Ser489Thr)
c.1405T>A (p.Ser469Thr)
c.2089T>A (p.Ser697Thr)
c.2059T>A (p.Ser687Thr)
c.1933T>A (p.Ser645Thr)
16g.27363708T>CCA7974744IL4Rc.2356T>C (p.Ser786Pro)
c.2311T>C (p.Ser771Pro)
c.230-395T>C (n.230-395T>C)
c.*2399T>C (n.*2399T>C)
c.1876T>C (p.Ser626Pro)
c.1465T>C (p.Ser489Pro)
c.1405T>C (p.Ser469Pro)
c.2089T>C (p.Ser697Pro)
c.2059T>C (p.Ser687Pro)
c.1933T>C (p.Ser645Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363708T>GCA395305386IL4Rc.2356T>G (p.Ser786Ala)
c.2311T>G (p.Ser771Ala)
c.230-395T>G (n.230-395T>G)
c.*2399T>G (n.*2399T>G)
c.1876T>G (p.Ser626Ala)
c.1465T>G (p.Ser489Ala)
c.1405T>G (p.Ser469Ala)
c.2089T>G (p.Ser697Ala)
c.2059T>G (p.Ser687Ala)
c.1933T>G (p.Ser645Ala)
16g.27363708T=CA2215170835IL4Rc.2356T= (p.Ser786=)
c.2311T= (p.Ser771=)
c.230-395T= (n.230-395T=)
c.*2399T= (n.*2399T=)
c.1876T= (p.Ser626=)
c.1465T= (p.Ser489=)
c.1405T= (p.Ser469=)
c.2089T= (p.Ser697=)
c.2059T= (p.Ser687=)
c.1933T= (p.Ser645=)
16g.27363709C>ACA395305387IL4Rc.2357C>A (p.Ser786Ter)
c.2312C>A (p.Ser771Ter)
c.230-394C>A (n.230-394C>A)
c.*2400C>A (n.*2400C>A)
c.1877C>A (p.Ser626Ter)
c.1466C>A (p.Ser489Ter)
c.1406C>A (p.Ser469Ter)
c.2090C>A (p.Ser697Ter)
c.2060C>A (p.Ser687Ter)
c.1934C>A (p.Ser645Ter)
16g.27363709C>GCA395305388IL4Rc.2357C>G (p.Ser786Ter)
c.2312C>G (p.Ser771Ter)
c.230-394C>G (n.230-394C>G)
c.*2400C>G (n.*2400C>G)
c.1877C>G (p.Ser626Ter)
c.1466C>G (p.Ser489Ter)
c.1406C>G (p.Ser469Ter)
c.2090C>G (p.Ser697Ter)
c.2060C>G (p.Ser687Ter)
c.1934C>G (p.Ser645Ter)
16g.27363709C>TCA395305389IL4Rc.2357C>T (p.Ser786Leu)
c.2312C>T (p.Ser771Leu)
c.230-394C>T (n.230-394C>T)
c.*2400C>T (n.*2400C>T)
c.1877C>T (p.Ser626Leu)
c.1466C>T (p.Ser489Leu)
c.1406C>T (p.Ser469Leu)
c.2090C>T (p.Ser697Leu)
c.2060C>T (p.Ser687Leu)
c.1934C>T (p.Ser645Leu)
16g.27363710A=CA2215170844IL4Rc.2358A= (p.Ser786=)
c.2313A= (p.Ser771=)
c.230-393A= (n.230-393A=)
c.*2401A= (n.*2401A=)
c.1878A= (p.Ser626=)
c.1467A= (p.Ser489=)
c.1407A= (p.Ser469=)
c.2091A= (p.Ser697=)
c.2061A= (p.Ser687=)
c.1935A= (p.Ser645=)
16g.27363710A>CCA494470934IL4Rc.2358A>C (p.Ser786=)
c.2313A>C (p.Ser771=)
c.230-393A>C (n.230-393A>C)
c.*2401A>C (n.*2401A>C)
c.1878A>C (p.Ser626=)
c.1467A>C (p.Ser489=)
c.1407A>C (p.Ser469=)
c.2091A>C (p.Ser697=)
c.2061A>C (p.Ser687=)
c.1935A>C (p.Ser645=)
16g.27363710A>GCA7974745IL4Rc.2358A>G (p.Ser786=)
c.2313A>G (p.Ser771=)
c.230-393A>G (n.230-393A>G)
c.*2401A>G (n.*2401A>G)
c.1878A>G (p.Ser626=)
c.1467A>G (p.Ser489=)
c.1407A>G (p.Ser469=)
c.2091A>G (p.Ser697=)
c.2061A>G (p.Ser687=)
c.1935A>G (p.Ser645=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363710A>TCA494470935IL4Rc.2358A>T (p.Ser786=)
c.2313A>T (p.Ser771=)
c.230-393A>T (n.230-393A>T)
c.*2401A>T (n.*2401A>T)
c.1878A>T (p.Ser626=)
c.1467A>T (p.Ser489=)
c.1407A>T (p.Ser469=)
c.2091A>T (p.Ser697=)
c.2061A>T (p.Ser687=)
c.1935A>T (p.Ser645=)
16g.27363711G>ACA395305391IL4Rc.2359G>A (p.Glu787Lys)
c.2314G>A (p.Glu772Lys)
c.230-392G>A (n.230-392G>A)
c.*2402G>A (n.*2402G>A)
c.1879G>A (p.Glu627Lys)
c.1468G>A (p.Glu490Lys)
c.1408G>A (p.Glu470Lys)
c.2092G>A (p.Glu698Lys)
c.2062G>A (p.Glu688Lys)
c.1936G>A (p.Glu646Lys)
16g.27363711G>CCA395305390IL4Rc.2359G>C (p.Glu787Gln)
c.2314G>C (p.Glu772Gln)
c.230-392G>C (n.230-392G>C)
c.*2402G>C (n.*2402G>C)
c.1879G>C (p.Glu627Gln)
c.1468G>C (p.Glu490Gln)
c.1408G>C (p.Glu470Gln)
c.2092G>C (p.Glu698Gln)
c.2062G>C (p.Glu688Gln)
c.1936G>C (p.Glu646Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.27363711G=CA2215170848IL4Rc.2359G= (p.Glu787=)
c.2314G= (p.Glu772=)
c.230-392G= (n.230-392G=)
c.*2402G= (n.*2402G=)
c.1879G= (p.Glu627=)
c.1468G= (p.Glu490=)
c.1408G= (p.Glu470=)
c.2092G= (p.Glu698=)
c.2062G= (p.Glu688=)
c.1936G= (p.Glu646=)
16g.27363711G>TCA395305392IL4Rc.2359G>T (p.Glu787Ter)
c.2314G>T (p.Glu772Ter)
c.230-392G>T (n.230-392G>T)
c.*2402G>T (n.*2402G>T)
c.1879G>T (p.Glu627Ter)
c.1468G>T (p.Glu490Ter)
c.1408G>T (p.Glu470Ter)
c.2092G>T (p.Glu698Ter)
c.2062G>T (p.Glu688Ter)
c.1936G>T (p.Glu646Ter)

Number of alleles fetched