Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.102451785G>ACA427843733IL18RAPc.1404G>A (p.Val468=)
c.978G>A (p.Val326=)
c.546G>A (p.Val182=)
dbSNP gnomAD v2 gnomAD v4
2g.102451785G>CCA427843732IL18RAPc.1404G>C (p.Val468=)
c.978G>C (p.Val326=)
c.546G>C (p.Val182=)
2g.102451785G=CA1275266545IL18RAPc.1404G= (p.Val468=)
c.978G= (p.Val326=)
c.546G= (p.Val182=)
2g.102451785G>TCA427843734IL18RAPc.1404G>T (p.Val468=)
c.978G>T (p.Val326=)
c.546G>T (p.Val182=)
2g.102451786A>CCA347946417IL18RAPc.1405A>C (p.Ser469Arg)
c.979A>C (p.Ser327Arg)
c.547A>C (p.Ser183Arg)
2g.102451786A>GCA347946410IL18RAPc.1405A>G (p.Ser469Gly)
c.979A>G (p.Ser327Gly)
c.547A>G (p.Ser183Gly)
gnomAD v4
2g.102451786A>TCA347946406IL18RAPc.1405A>T (p.Ser469Cys)
c.979A>T (p.Ser327Cys)
c.547A>T (p.Ser183Cys)
2g.102451787G>ACA347946421IL18RAPc.1406G>A (p.Ser469Asn)
c.980G>A (p.Ser327Asn)
c.548G>A (p.Ser183Asn)
2g.102451787G>CCA347946425IL18RAPc.1406G>C (p.Ser469Thr)
c.980G>C (p.Ser327Thr)
c.548G>C (p.Ser183Thr)
2g.102451787G>TCA347946427IL18RAPc.1406G>T (p.Ser469Ile)
c.980G>T (p.Ser327Ile)
c.548G>T (p.Ser183Ile)
2g.102451788C>ACA347946430IL18RAPc.1407C>A (p.Ser469Arg)
c.981C>A (p.Ser327Arg)
c.549C>A (p.Ser183Arg)
2g.102451788C>GCA347946434IL18RAPc.1407C>G (p.Ser469Arg)
c.981C>G (p.Ser327Arg)
c.549C>G (p.Ser183Arg)
2g.102451788C>TCA427843735IL18RAPc.1407C>T (p.Ser469=)
c.981C>T (p.Ser327=)
c.549C>T (p.Ser183=)
2g.102451788_102451791delinsCATTCA1275266548IL18RAPc.1407_1410delinsCATT (p.Ser469=)
c.981_984delinsCATT (p.Ser327=)
c.549_552delinsCATT (p.Ser183=)
2g.102451789A=CA1275266550IL18RAPc.1408A= (p.Ile470=)
c.982A= (p.Ile328=)
c.550A= (p.Ile184=)
2g.102451789A>CCA347946439IL18RAPc.1408A>C (p.Ile470Leu)
c.982A>C (p.Ile328Leu)
c.550A>C (p.Ile184Leu)
2g.102451789A>GCA347946446IL18RAPc.1408A>G (p.Ile470Val)
c.982A>G (p.Ile328Val)
c.550A>G (p.Ile184Val)
dbSNP
2g.102451789A>TCA347946449IL18RAPc.1408A>T (p.Ile470Phe)
c.982A>T (p.Ile328Phe)
c.550A>T (p.Ile184Phe)
2g.102451793_102451795delCA916610982IL18RAPc.1412_1414del (p.Ile471del)
c.986_988del (p.Ile329del)
c.554_556del (p.Ile185del)
dbSNP gnomAD v3 gnomAD v4
2g.102451790T>ACA347946456IL18RAPc.1409T>A (p.Ile470Asn)
c.983T>A (p.Ile328Asn)
c.551T>A (p.Ile184Asn)
2g.102451790T>CCA347946459IL18RAPc.1409T>C (p.Ile470Thr)
c.983T>C (p.Ile328Thr)
c.551T>C (p.Ile184Thr)
2g.102451790T>GCA347946460IL18RAPc.1409T>G (p.Ile470Ser)
c.983T>G (p.Ile328Ser)
c.551T>G (p.Ile184Ser)
2g.102451791T>ACA427843736IL18RAPc.1410T>A (p.Ile470=)
c.984T>A (p.Ile328=)
c.552T>A (p.Ile184=)
2g.102451791T>CCA427843737IL18RAPc.1410T>C (p.Ile470=)
c.984T>C (p.Ile328=)
c.552T>C (p.Ile184=)
2g.102451791T>GCA347946461IL18RAPc.1410T>G (p.Ile470Met)
c.984T>G (p.Ile328Met)
c.552T>G (p.Ile184Met)
2g.102451792A=CA1275266553IL18RAPc.1411A= (p.Ile471=)
c.985A= (p.Ile329=)
c.553A= (p.Ile185=)
2g.102451792A>CCA347946471IL18RAPc.1411A>C (p.Ile471Leu)
c.985A>C (p.Ile329Leu)
c.553A>C (p.Ile185Leu)
2g.102451792A>GCA347946474IL18RAPc.1411A>G (p.Ile471Val)
c.985A>G (p.Ile329Val)
c.553A>G (p.Ile185Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451792A>TCA347946467IL18RAPc.1411A>T (p.Ile471Phe)
c.985A>T (p.Ile329Phe)
c.553A>T (p.Ile185Phe)
2g.102451793T>ACA347946481IL18RAPc.1412T>A (p.Ile471Asn)
c.986T>A (p.Ile329Asn)
c.554T>A (p.Ile185Asn)
2g.102451793T>CCA347946483IL18RAPc.1412T>C (p.Ile471Thr)
c.986T>C (p.Ile329Thr)
c.554T>C (p.Ile185Thr)
2g.102451793T>GCA347946491IL18RAPc.1412T>G (p.Ile471Ser)
c.986T>G (p.Ile329Ser)
c.554T>G (p.Ile185Ser)
2g.102451794T>ACA427843738IL18RAPc.1413T>A (p.Ile471=)
c.987T>A (p.Ile329=)
c.555T>A (p.Ile185=)
2g.102451794T>CCA427843739IL18RAPc.1413T>C (p.Ile471=)
c.987T>C (p.Ile329=)
c.555T>C (p.Ile185=)
gnomAD v4
2g.102451794T>GCA347946497IL18RAPc.1413T>G (p.Ile471Met)
c.987T>G (p.Ile329Met)
c.555T>G (p.Ile185Met)
2g.102451795A>CCA347946501IL18RAPc.1414A>C (p.Lys472Gln)
c.988A>C (p.Lys330Gln)
c.556A>C (p.Lys186Gln)
2g.102451795A>GCA347946504IL18RAPc.1414A>G (p.Lys472Glu)
c.988A>G (p.Lys330Glu)
c.556A>G (p.Lys186Glu)
2g.102451795A>TCA347946507IL18RAPc.1414A>T (p.Lys472Ter)
c.988A>T (p.Lys330Ter)
c.556A>T (p.Lys186Ter)
2g.102451796A=CA1275266557IL18RAPc.1415A= (p.Lys472=)
c.989A= (p.Lys330=)
c.557A= (p.Lys186=)
2g.102451796A>CCA347946514IL18RAPc.1415A>C (p.Lys472Thr)
c.989A>C (p.Lys330Thr)
c.557A>C (p.Lys186Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451796A>GCA347946525IL18RAPc.1415A>G (p.Lys472Arg)
c.989A>G (p.Lys330Arg)
c.557A>G (p.Lys186Arg)
2g.102451796A>TCA347946522IL18RAPc.1415A>T (p.Lys472Met)
c.989A>T (p.Lys330Met)
c.557A>T (p.Lys186Met)
2g.102451797G>ACA427843740IL18RAPc.1416G>A (p.Lys472=)
c.990G>A (p.Lys330=)
c.558G>A (p.Lys186=)
dbSNP
2g.102451797G>CCA347946528IL18RAPc.1416G>C (p.Lys472Asn)
c.990G>C (p.Lys330Asn)
c.558G>C (p.Lys186Asn)
2g.102451797G=CA1275266561IL18RAPc.1416G= (p.Lys472=)
c.990G= (p.Lys330=)
c.558G= (p.Lys186=)
2g.102451797G>TCA347946532IL18RAPc.1416G>T (p.Lys472Asn)
c.990G>T (p.Lys330Asn)
c.558G>T (p.Lys186Asn)
2g.102451798A>CCA427843741IL18RAPc.1417A>C (p.Arg473=)
c.991A>C (p.Arg331=)
c.559A>C (p.Arg187=)
2g.102451798A>GCA347946534IL18RAPc.1417A>G (p.Arg473Gly)
c.991A>G (p.Arg331Gly)
c.559A>G (p.Arg187Gly)
2g.102451798A>TCA347946537IL18RAPc.1417A>T (p.Arg473Ter)
c.991A>T (p.Arg331Ter)
c.559A>T (p.Arg187Ter)
2g.102451799G>ACA347946546IL18RAPc.1418G>A (p.Arg473Lys)
c.992G>A (p.Arg331Lys)
c.560G>A (p.Arg187Lys)
COSMIC
2g.102451799G>CCA347946561IL18RAPc.1418G>C (p.Arg473Thr)
c.992G>C (p.Arg331Thr)
c.560G>C (p.Arg187Thr)
2g.102451799G>TCA347946555IL18RAPc.1418G>T (p.Arg473Ile)
c.992G>T (p.Arg331Ile)
c.560G>T (p.Arg187Ile)
COSMIC
2g.102451800A=CA1275266564IL18RAPc.1419A= (p.Arg473=)
c.993A= (p.Arg331=)
c.561A= (p.Arg187=)
2g.102451800A>CCA347946575IL18RAPc.1419A>C (p.Arg473Ser)
c.993A>C (p.Arg331Ser)
c.561A>C (p.Arg187Ser)
2g.102451800A>GCA427843742IL18RAPc.1419A>G (p.Arg473=)
c.993A>G (p.Arg331=)
c.561A>G (p.Arg187=)
dbSNP gnomAD v2 gnomAD v4
2g.102451800A>TCA347946579IL18RAPc.1419A>T (p.Arg473Ser)
c.993A>T (p.Arg331Ser)
c.561A>T (p.Arg187Ser)
2g.102451801A=CA1275266566IL18RAPc.1420A= (p.Ser474=)
c.994A= (p.Ser332=)
c.562A= (p.Ser188=)
2g.102451801A>CCA347946589IL18RAPc.1420A>C (p.Ser474Arg)
c.994A>C (p.Ser332Arg)
c.562A>C (p.Ser188Arg)
2g.102451801A>GCA347946598IL18RAPc.1420A>G (p.Ser474Gly)
c.994A>G (p.Ser332Gly)
c.562A>G (p.Ser188Gly)
dbSNP
2g.102451801A>TCA347946602IL18RAPc.1420A>T (p.Ser474Cys)
c.994A>T (p.Ser332Cys)
c.562A>T (p.Ser188Cys)
2g.102451802G>ACA347946607IL18RAPc.1421G>A (p.Ser474Asn)
c.995G>A (p.Ser332Asn)
c.563G>A (p.Ser188Asn)
gnomAD v4
2g.102451802G>CCA347946610IL18RAPc.1421G>C (p.Ser474Thr)
c.995G>C (p.Ser332Thr)
c.563G>C (p.Ser188Thr)
2g.102451802G>TCA347946611IL18RAPc.1421G>T (p.Ser474Ile)
c.995G>T (p.Ser332Ile)
c.563G>T (p.Ser188Ile)
2g.102451803C>ACA347946615IL18RAPc.1422C>A (p.Ser474Arg)
c.996C>A (p.Ser332Arg)
c.564C>A (p.Ser188Arg)
2g.102451803C=CA1275266568IL18RAPc.1422C= (p.Ser474=)
c.996C= (p.Ser332=)
c.564C= (p.Ser188=)
2g.102451803C>GCA347946616IL18RAPc.1422C>G (p.Ser474Arg)
c.996C>G (p.Ser332Arg)
c.564C>G (p.Ser188Arg)
dbSNP gnomAD v3 gnomAD v4
2g.102451803C>TCA427843743IL18RAPc.1422C>T (p.Ser474=)
c.996C>T (p.Ser332=)
c.564C>T (p.Ser188=)
2g.102451804A=CA1275266572IL18RAPc.1423A= (p.Arg475=)
c.997A= (p.Arg333=)
c.565A= (p.Arg189=)
2g.102451804A>CCA427843744IL18RAPc.1423A>C (p.Arg475=)
c.997A>C (p.Arg333=)
c.565A>C (p.Arg189=)
2g.102451804A>GCA1810639IL18RAPc.1423A>G (p.Arg475Gly)
c.997A>G (p.Arg333Gly)
c.565A>G (p.Arg189Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451804A>TCA347946620IL18RAPc.1423A>T (p.Arg475Ter)
c.997A>T (p.Arg333Ter)
c.565A>T (p.Arg189Ter)
2g.102451805G>ACA347946629IL18RAPc.1424G>A (p.Arg475Lys)
c.998G>A (p.Arg333Lys)
c.566G>A (p.Arg189Lys)
gnomAD v4
2g.102451805G>CCA347946624IL18RAPc.1424G>C (p.Arg475Thr)
c.998G>C (p.Arg333Thr)
c.566G>C (p.Arg189Thr)
gnomAD v4
2g.102451805G>TCA347946628IL18RAPc.1424G>T (p.Arg475Ile)
c.998G>T (p.Arg333Ile)
c.566G>T (p.Arg189Ile)
2g.102451806A>CCA347946630IL18RAPc.1425A>C (p.Arg475Ser)
c.999A>C (p.Arg333Ser)
c.567A>C (p.Arg189Ser)
2g.102451806A>GCA427843745IL18RAPc.1425A>G (p.Arg475=)
c.999A>G (p.Arg333=)
c.567A>G (p.Arg189=)
2g.102451806A>TCA347946631IL18RAPc.1425A>T (p.Arg475Ser)
c.999A>T (p.Arg333Ser)
c.567A>T (p.Arg189Ser)
2g.102451807A>CCA427843746IL18RAPc.1426A>C (p.Arg476=)
c.1000A>C (p.Arg334=)
c.568A>C (p.Arg190=)
2g.102451807A>GCA347946636IL18RAPc.1426A>G (p.Arg476Gly)
c.1000A>G (p.Arg334Gly)
c.568A>G (p.Arg190Gly)
2g.102451807A>TCA347946640IL18RAPc.1426A>T (p.Arg476Ter)
c.1000A>T (p.Arg334Ter)
c.568A>T (p.Arg190Ter)
2g.102451808G>ACA347946644IL18RAPc.1427G>A (p.Arg476Lys)
c.1001G>A (p.Arg334Lys)
c.569G>A (p.Arg190Lys)
2g.102451808G>CCA347946645IL18RAPc.1427G>C (p.Arg476Thr)
c.1001G>C (p.Arg334Thr)
c.569G>C (p.Arg190Thr)
gnomAD v4
2g.102451808G=CA1275266575IL18RAPc.1427G= (p.Arg476=)
c.1001G= (p.Arg334=)
c.569G= (p.Arg190=)
2g.102451808G>TCA347946646IL18RAPc.1427G>T (p.Arg476Ile)
c.1001G>T (p.Arg334Ile)
c.569G>T (p.Arg190Ile)
dbSNP
2g.102451809A>CCA347946649IL18RAPc.1428A>C (p.Arg476Ser)
c.1002A>C (p.Arg334Ser)
c.570A>C (p.Arg190Ser)
2g.102451809A>GCA427843747IL18RAPc.1428A>G (p.Arg476=)
c.1002A>G (p.Arg334=)
c.570A>G (p.Arg190=)
2g.102451809A>TCA347946665IL18RAPc.1428A>T (p.Arg476Ser)
c.1002A>T (p.Arg334Ser)
c.570A>T (p.Arg190Ser)
2g.102451810G>ACA52936109IL18RAPc.1429G>A (p.Gly477Arg)
c.1003G>A (p.Gly335Arg)
c.571G>A (p.Gly191Arg)
dbSNP gnomAD v3 gnomAD v4
2g.102451810G>CCA347946668IL18RAPc.1429G>C (p.Gly477Arg)
c.1003G>C (p.Gly335Arg)
c.571G>C (p.Gly191Arg)
2g.102451810G=CA1275266585IL18RAPc.1429G= (p.Gly477=)
c.1003G= (p.Gly335=)
c.571G= (p.Gly191=)
2g.102451810G>TCA347946669IL18RAPc.1429G>T (p.Gly477Ter)
c.1003G>T (p.Gly335Ter)
c.571G>T (p.Gly191Ter)
2g.102451811G>ACA347946673IL18RAPc.1430G>A (p.Gly477Glu)
c.1004G>A (p.Gly335Glu)
c.572G>A (p.Gly191Glu)
2g.102451811G>CCA347946677IL18RAPc.1430G>C (p.Gly477Ala)
c.1004G>C (p.Gly335Ala)
c.572G>C (p.Gly191Ala)
2g.102451811G>TCA347946679IL18RAPc.1430G>T (p.Gly477Val)
c.1004G>T (p.Gly335Val)
c.572G>T (p.Gly191Val)
gnomAD v4
2g.102451812A>CCA427843748IL18RAPc.1431A>C (p.Gly477=)
c.1005A>C (p.Gly335=)
c.573A>C (p.Gly191=)
2g.102451812A>GCA427843750IL18RAPc.1431A>G (p.Gly477=)
c.1005A>G (p.Gly335=)
c.573A>G (p.Gly191=)
2g.102451812A>TCA427843749IL18RAPc.1431A>T (p.Gly477=)
c.1005A>T (p.Gly335=)
c.573A>T (p.Gly191=)
gnomAD v4
2g.102451813A>CCA347946690IL18RAPc.1432A>C (p.Ile478Leu)
c.1006A>C (p.Ile336Leu)
c.574A>C (p.Ile192Leu)
2g.102451813A>GCA347946689IL18RAPc.1432A>G (p.Ile478Val)
c.1006A>G (p.Ile336Val)
c.574A>G (p.Ile192Val)
2g.102451813A>TCA347946685IL18RAPc.1432A>T (p.Ile478Leu)
c.1006A>T (p.Ile336Leu)
c.574A>T (p.Ile192Leu)
2g.102451814T>ACA347946691IL18RAPc.1433T>A (p.Ile478Lys)
c.1007T>A (p.Ile336Lys)
c.575T>A (p.Ile192Lys)
2g.102451814T>CCA347946692IL18RAPc.1433T>C (p.Ile478Thr)
c.1007T>C (p.Ile336Thr)
c.575T>C (p.Ile192Thr)
2g.102451814T>GCA347946696IL18RAPc.1433T>G (p.Ile478Arg)
c.1007T>G (p.Ile336Arg)
c.575T>G (p.Ile192Arg)
gnomAD v4
2g.102451815A>CCA427843751IL18RAPc.1434A>C (p.Ile478=)
c.1008A>C (p.Ile336=)
c.576A>C (p.Ile192=)
2g.102451815A>GCA347946699IL18RAPc.1434A>G (p.Ile478Met)
c.1008A>G (p.Ile336Met)
c.576A>G (p.Ile192Met)
2g.102451815A>TCA427843752IL18RAPc.1434A>T (p.Ile478=)
c.1008A>T (p.Ile336=)
c.576A>T (p.Ile192=)
2g.102451816T>ACA347946700IL18RAPc.1435T>A (p.Phe479Ile)
c.1009T>A (p.Phe337Ile)
c.577T>A (p.Phe193Ile)
2g.102451816T>CCA347946701IL18RAPc.1435T>C (p.Phe479Leu)
c.1009T>C (p.Phe337Leu)
c.577T>C (p.Phe193Leu)
2g.102451816T>GCA347946705IL18RAPc.1435T>G (p.Phe479Val)
c.1009T>G (p.Phe337Val)
c.577T>G (p.Phe193Val)
2g.102451817T>ACA347946711IL18RAPc.1436T>A (p.Phe479Tyr)
c.1010T>A (p.Phe337Tyr)
c.578T>A (p.Phe193Tyr)
2g.102451817T>CCA347946715IL18RAPc.1436T>C (p.Phe479Ser)
c.1010T>C (p.Phe337Ser)
c.578T>C (p.Phe193Ser)
2g.102451817T>GCA347946718IL18RAPc.1436T>G (p.Phe479Cys)
c.1010T>G (p.Phe337Cys)
c.578T>G (p.Phe193Cys)
dbSNP gnomAD v3 gnomAD v4
2g.102451817T=CA1275266588IL18RAPc.1436T= (p.Phe479=)
c.1010T= (p.Phe337=)
c.578T= (p.Phe193=)
2g.102451818T>ACA347946728IL18RAPc.1437T>A (p.Phe479Leu)
c.1011T>A (p.Phe337Leu)
c.579T>A (p.Phe193Leu)
2g.102451818T>CCA427843753IL18RAPc.1437T>C (p.Phe479=)
c.1011T>C (p.Phe337=)
c.579T>C (p.Phe193=)
2g.102451818T>GCA347946731IL18RAPc.1437T>G (p.Phe479Leu)
c.1011T>G (p.Phe337Leu)
c.579T>G (p.Phe193Leu)
2g.102451819A>CCA347946752IL18RAPc.1438A>C (p.Ile480Leu)
c.1012A>C (p.Ile338Leu)
c.580A>C (p.Ile194Leu)
2g.102451819A>GCA347946739IL18RAPc.1438A>G (p.Ile480Val)
c.1012A>G (p.Ile338Val)
c.580A>G (p.Ile194Val)
2g.102451819A>TCA347946735IL18RAPc.1438A>T (p.Ile480Phe)
c.1012A>T (p.Ile338Phe)
c.580A>T (p.Ile194Phe)
2g.102451820T>ACA347946760IL18RAPc.1439T>A (p.Ile480Asn)
c.1013T>A (p.Ile338Asn)
c.581T>A (p.Ile194Asn)
2g.102451820T>CCA347946764IL18RAPc.1439T>C (p.Ile480Thr)
c.1013T>C (p.Ile338Thr)
c.581T>C (p.Ile194Thr)
dbSNP gnomAD v2
2g.102451820T>GCA347946768IL18RAPc.1439T>G (p.Ile480Ser)
c.1013T>G (p.Ile338Ser)
c.581T>G (p.Ile194Ser)
2g.102451820T=CA1275266592IL18RAPc.1439T= (p.Ile480=)
c.1013T= (p.Ile338=)
c.581T= (p.Ile194=)
2g.102451821C>ACA427843754IL18RAPc.1440C>A (p.Ile480=)
c.1014C>A (p.Ile338=)
c.582C>A (p.Ile194=)
2g.102451821C>GCA347946773IL18RAPc.1440C>G (p.Ile480Met)
c.1014C>G (p.Ile338Met)
c.582C>G (p.Ile194Met)
2g.102451821C>TCA427843755IL18RAPc.1440C>T (p.Ile480=)
c.1014C>T (p.Ile338=)
c.582C>T (p.Ile194=)
2g.102451822T>ACA347946777IL18RAPc.1441T>A (p.Leu481Met)
c.1015T>A (p.Leu339Met)
c.583T>A (p.Leu195Met)
dbSNP gnomAD v2 gnomAD v4
2g.102451822T>CCA1810640IL18RAPc.1441T>C (p.Leu481=)
c.1015T>C (p.Leu339=)
c.583T>C (p.Leu195=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451822T>GCA347946781IL18RAPc.1441T>G (p.Leu481Val)
c.1015T>G (p.Leu339Val)
c.583T>G (p.Leu195Val)
2g.102451822T=CA1275266596IL18RAPc.1441T= (p.Leu481=)
c.1015T= (p.Leu339=)
c.583T= (p.Leu195=)
2g.102451823T>ACA347946785IL18RAPc.1442T>A (p.Leu481Ter)
c.1016T>A (p.Leu339Ter)
c.584T>A (p.Leu195Ter)
2g.102451823T>CCA347946789IL18RAPc.1442T>C (p.Leu481Ser)
c.1016T>C (p.Leu339Ser)
c.584T>C (p.Leu195Ser)
2g.102451823T>GCA347946793IL18RAPc.1442T>G (p.Leu481Trp)
c.1016T>G (p.Leu339Trp)
c.584T>G (p.Leu195Trp)
dbSNP gnomAD v2 gnomAD v4
2g.102451823T=CA1275266600IL18RAPc.1442T= (p.Leu481=)
c.1016T= (p.Leu339=)
c.584T= (p.Leu195=)
2g.102451824G>ACA1810641IL18RAPc.1443G>A (p.Leu481=)
c.1017G>A (p.Leu339=)
c.585G>A (p.Leu195=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451824G>CCA347946802IL18RAPc.1443G>C (p.Leu481Phe)
c.1017G>C (p.Leu339Phe)
c.585G>C (p.Leu195Phe)
gnomAD v4
2g.102451824G=CA1275266605IL18RAPc.1443G= (p.Leu481=)
c.1017G= (p.Leu339=)
c.585G= (p.Leu195=)
2g.102451824G>TCA347946805IL18RAPc.1443G>T (p.Leu481Phe)
c.1017G>T (p.Leu339Phe)
c.585G>T (p.Leu195Phe)
2g.102451825A>CCA347946812IL18RAPc.1444A>C (p.Ser482Arg)
c.1018A>C (p.Ser340Arg)
c.586A>C (p.Ser196Arg)
2g.102451825A>GCA347946825IL18RAPc.1444A>G (p.Ser482Gly)
c.1018A>G (p.Ser340Gly)
c.586A>G (p.Ser196Gly)
2g.102451825A>TCA347946815IL18RAPc.1444A>T (p.Ser482Cys)
c.1018A>T (p.Ser340Cys)
c.586A>T (p.Ser196Cys)
2g.102451826G>ACA347946826IL18RAPc.1445G>A (p.Ser482Asn)
c.1019G>A (p.Ser340Asn)
c.587G>A (p.Ser196Asn)
COSMIC
2g.102451826G>CCA347946827IL18RAPc.1445G>C (p.Ser482Thr)
c.1019G>C (p.Ser340Thr)
c.587G>C (p.Ser196Thr)
2g.102451826G>TCA347946831IL18RAPc.1445G>T (p.Ser482Ile)
c.1019G>T (p.Ser340Ile)
c.587G>T (p.Ser196Ile)
2g.102451827C>ACA347946837IL18RAPc.1446C>A (p.Ser482Arg)
c.1020C>A (p.Ser340Arg)
c.588C>A (p.Ser196Arg)
2g.102451827C=CA1275266608IL18RAPc.1446C= (p.Ser482=)
c.1020C= (p.Ser340=)
c.588C= (p.Ser196=)
2g.102451827C>GCA347946842IL18RAPc.1446C>G (p.Ser482Arg)
c.1020C>G (p.Ser340Arg)
c.588C>G (p.Ser196Arg)
2g.102451827C>TCA427843756IL18RAPc.1446C>T (p.Ser482=)
c.1020C>T (p.Ser340=)
c.588C>T (p.Ser196=)
dbSNP gnomAD v4
2g.102451828C>ACA347946849IL18RAPc.1447C>A (p.Pro483Thr)
c.1021C>A (p.Pro341Thr)
c.589C>A (p.Pro197Thr)
gnomAD v4
2g.102451828C=CA1275266610IL18RAPc.1447C= (p.Pro483=)
c.1021C= (p.Pro341=)
c.589C= (p.Pro197=)
2g.102451828C>GCA347946859IL18RAPc.1447C>G (p.Pro483Ala)
c.1021C>G (p.Pro341Ala)
c.589C>G (p.Pro197Ala)
2g.102451828C>TCA1810642IL18RAPc.1447C>T (p.Pro483Ser)
c.1021C>T (p.Pro341Ser)
c.589C>T (p.Pro197Ser)
dbSNP ExAC gnomAD v4
2g.102451829C>ACA347946864IL18RAPc.1448C>A (p.Pro483His)
c.1022C>A (p.Pro341His)
c.590C>A (p.Pro197His)
2g.102451829C=CA1275266614IL18RAPc.1448C= (p.Pro483=)
c.1022C= (p.Pro341=)
c.590C= (p.Pro197=)
2g.102451829C>GCA347946865IL18RAPc.1448C>G (p.Pro483Arg)
c.1022C>G (p.Pro341Arg)
c.590C>G (p.Pro197Arg)
2g.102451829C>TCA347946867IL18RAPc.1448C>T (p.Pro483Leu)
c.1022C>T (p.Pro341Leu)
c.590C>T (p.Pro197Leu)
dbSNP
2g.102451830C>ACA427843757IL18RAPc.1449C>A (p.Pro483=)
c.1023C>A (p.Pro341=)
c.591C>A (p.Pro197=)
2g.102451830C>GCA427843758IL18RAPc.1449C>G (p.Pro483=)
c.1023C>G (p.Pro341=)
c.591C>G (p.Pro197=)
2g.102451830C>TCA427843759IL18RAPc.1449C>T (p.Pro483=)
c.1023C>T (p.Pro341=)
c.591C>T (p.Pro197=)
2g.102451831A>CCA347946885IL18RAPc.1450A>C (p.Asn484His)
c.1024A>C (p.Asn342His)
c.592A>C (p.Asn198His)
2g.102451831A>GCA347946880IL18RAPc.1450A>G (p.Asn484Asp)
c.1024A>G (p.Asn342Asp)
c.592A>G (p.Asn198Asp)
2g.102451831A>TCA347946871IL18RAPc.1450A>T (p.Asn484Tyr)
c.1024A>T (p.Asn342Tyr)
c.592A>T (p.Asn198Tyr)
2g.102451832A=CA1275266616IL18RAPc.1451A= (p.Asn484=)
c.1025A= (p.Asn342=)
c.593A= (p.Asn198=)
2g.102451832A>CCA347946895IL18RAPc.1451A>C (p.Asn484Thr)
c.1025A>C (p.Asn342Thr)
c.593A>C (p.Asn198Thr)
2g.102451832A>GCA347946891IL18RAPc.1451A>G (p.Asn484Ser)
c.1025A>G (p.Asn342Ser)
c.593A>G (p.Asn198Ser)
dbSNP gnomAD v3 gnomAD v4
2g.102451832A>TCA347946893IL18RAPc.1451A>T (p.Asn484Ile)
c.1025A>T (p.Asn342Ile)
c.593A>T (p.Asn198Ile)
2g.102451833C>ACA347946900IL18RAPc.1452C>A (p.Asn484Lys)
c.1026C>A (p.Asn342Lys)
c.594C>A (p.Asn198Lys)
2g.102451833C>GCA347946903IL18RAPc.1452C>G (p.Asn484Lys)
c.1026C>G (p.Asn342Lys)
c.594C>G (p.Asn198Lys)
2g.102451833C>TCA427843760IL18RAPc.1452C>T (p.Asn484=)
c.1026C>T (p.Asn342=)
c.594C>T (p.Asn198=)
2g.102451834T>ACA347946909IL18RAPc.1453T>A (p.Tyr485Asn)
c.1027T>A (p.Tyr343Asn)
c.595T>A (p.Tyr199Asn)
2g.102451834T>CCA347946913IL18RAPc.1453T>C (p.Tyr485His)
c.1027T>C (p.Tyr343His)
c.595T>C (p.Tyr199His)
2g.102451834T>GCA347946917IL18RAPc.1453T>G (p.Tyr485Asp)
c.1027T>G (p.Tyr343Asp)
c.595T>G (p.Tyr199Asp)
2g.102451835A=CA1275266617IL18RAPc.1454A= (p.Tyr485=)
c.1028A= (p.Tyr343=)
c.596A= (p.Tyr199=)
2g.102451835A>CCA347946928IL18RAPc.1454A>C (p.Tyr485Ser)
c.1028A>C (p.Tyr343Ser)
c.596A>C (p.Tyr199Ser)
2g.102451835A>GCA347946921IL18RAPc.1454A>G (p.Tyr485Cys)
c.1028A>G (p.Tyr343Cys)
c.596A>G (p.Tyr199Cys)
dbSNP gnomAD v2 gnomAD v4
2g.102451835A>TCA347946927IL18RAPc.1454A>T (p.Tyr485Phe)
c.1028A>T (p.Tyr343Phe)
c.596A>T (p.Tyr199Phe)
2g.102451836T>ACA347946929IL18RAPc.1455T>A (p.Tyr485Ter)
c.1029T>A (p.Tyr343Ter)
c.597T>A (p.Tyr199Ter)
2g.102451836T>CCA427843761IL18RAPc.1455T>C (p.Tyr485=)
c.1029T>C (p.Tyr343=)
c.597T>C (p.Tyr199=)
dbSNP gnomAD v4
2g.102451836T>GCA347946930IL18RAPc.1455T>G (p.Tyr485Ter)
c.1029T>G (p.Tyr343Ter)
c.597T>G (p.Tyr199Ter)
gnomAD v4
2g.102451836T=CA1275266618IL18RAPc.1455T= (p.Tyr485=)
c.1029T= (p.Tyr343=)
c.597T= (p.Tyr199=)
2g.102451837G>ACA1810643IL18RAPc.1456G>A (p.Val486Ile)
c.1030G>A (p.Val344Ile)
c.598G>A (p.Val200Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451837G>CCA347946940IL18RAPc.1456G>C (p.Val486Leu)
c.1030G>C (p.Val344Leu)
c.598G>C (p.Val200Leu)
2g.102451837G=CA1275266619IL18RAPc.1456G= (p.Val486=)
c.1030G= (p.Val344=)
c.598G= (p.Val200=)
2g.102451837G>TCA347946944IL18RAPc.1456G>T (p.Val486Phe)
c.1030G>T (p.Val344Phe)
c.598G>T (p.Val200Phe)
2g.102451838T>ACA347946950IL18RAPc.1457T>A (p.Val486Asp)
c.1031T>A (p.Val344Asp)
c.599T>A (p.Val200Asp)
2g.102451838T>CCA347946955IL18RAPc.1457T>C (p.Val486Ala)
c.1031T>C (p.Val344Ala)
c.599T>C (p.Val200Ala)
2g.102451838T>GCA347946952IL18RAPc.1457T>G (p.Val486Gly)
c.1031T>G (p.Val344Gly)
c.599T>G (p.Val200Gly)
2g.102451839C>ACA427843764IL18RAPc.1458C>A (p.Val486=)
c.1032C>A (p.Val344=)
c.600C>A (p.Val200=)
2g.102451839C>GCA427843762IL18RAPc.1458C>G (p.Val486=)
c.1032C>G (p.Val344=)
c.600C>G (p.Val200=)
2g.102451839C>TCA427843763IL18RAPc.1458C>T (p.Val486=)
c.1032C>T (p.Val344=)
c.600C>T (p.Val200=)
2g.102451840A>CCA347946962IL18RAPc.1459A>C (p.Asn487His)
c.1033A>C (p.Asn345His)
c.601A>C (p.Asn201His)
2g.102451840A>GCA347946966IL18RAPc.1459A>G (p.Asn487Asp)
c.1033A>G (p.Asn345Asp)
c.601A>G (p.Asn201Asp)
gnomAD v4
2g.102451840A>TCA347946969IL18RAPc.1459A>T (p.Asn487Tyr)
c.1033A>T (p.Asn345Tyr)
c.601A>T (p.Asn201Tyr)
2g.102451841A=CA1275266621IL18RAPc.1460A= (p.Asn487=)
c.1034A= (p.Asn345=)
c.602A= (p.Asn201=)
2g.102451841A>CCA347946976IL18RAPc.1460A>C (p.Asn487Thr)
c.1034A>C (p.Asn345Thr)
c.602A>C (p.Asn201Thr)
2g.102451841A>GCA1810644IL18RAPc.1460A>G (p.Asn487Ser)
c.1034A>G (p.Asn345Ser)
c.602A>G (p.Asn201Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451841A>TCA347946990IL18RAPc.1460A>T (p.Asn487Ile)
c.1034A>T (p.Asn345Ile)
c.602A>T (p.Asn201Ile)
2g.102451842T>ACA347946994IL18RAPc.1461T>A (p.Asn487Lys)
c.1035T>A (p.Asn345Lys)
c.603T>A (p.Asn201Lys)
2g.102451842T>CCA1810645IL18RAPc.1461T>C (p.Asn487=)
c.1035T>C (p.Asn345=)
c.603T>C (p.Asn201=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451842T>GCA347947002IL18RAPc.1461T>G (p.Asn487Lys)
c.1035T>G (p.Asn345Lys)
c.603T>G (p.Asn201Lys)
2g.102451842T=CA1275266622IL18RAPc.1461T= (p.Asn487=)
c.1035T= (p.Asn345=)
c.603T= (p.Asn201=)
2g.102451843G>ACA347947006IL18RAPc.1462G>A (p.Gly488Arg)
c.1036G>A (p.Gly346Arg)
c.604G>A (p.Gly202Arg)
2g.102451843G>CCA347947009IL18RAPc.1462G>C (p.Gly488Arg)
c.1036G>C (p.Gly346Arg)
c.604G>C (p.Gly202Arg)
2g.102451843G>TCA347947012IL18RAPc.1462G>T (p.Gly488Ter)
c.1036G>T (p.Gly346Ter)
c.604G>T (p.Gly202Ter)
2g.102451844G>ACA347947018IL18RAPc.1463G>A (p.Gly488Glu)
c.1037G>A (p.Gly346Glu)
c.605G>A (p.Gly202Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.102451844G>CCA347947034IL18RAPc.1463G>C (p.Gly488Ala)
c.1037G>C (p.Gly346Ala)
c.605G>C (p.Gly202Ala)
2g.102451844G=CA1275266625IL18RAPc.1463G= (p.Gly488=)
c.1037G= (p.Gly346=)
c.605G= (p.Gly202=)
2g.102451844G>TCA347947021IL18RAPc.1463G>T (p.Gly488Val)
c.1037G>T (p.Gly346Val)
c.605G>T (p.Gly202Val)
2g.102451845A>CCA427843772IL18RAPc.1464A>C (p.Gly488=)
c.1038A>C (p.Gly346=)
c.606A>C (p.Gly202=)
2g.102451845A>GCA427843773IL18RAPc.1464A>G (p.Gly488=)
c.1038A>G (p.Gly346=)
c.606A>G (p.Gly202=)
gnomAD v4
2g.102451845A>TCA427843774IL18RAPc.1464A>T (p.Gly488=)
c.1038A>T (p.Gly346=)
c.606A>T (p.Gly202=)
2g.102451846C>ACA347947039IL18RAPc.1465C>A (p.Pro489Thr)
c.1039C>A (p.Pro347Thr)
c.607C>A (p.Pro203Thr)
gnomAD v4
2g.102451846C>GCA347947043IL18RAPc.1465C>G (p.Pro489Ala)
c.1039C>G (p.Pro347Ala)
c.607C>G (p.Pro203Ala)
2g.102451846C>TCA347947047IL18RAPc.1465C>T (p.Pro489Ser)
c.1039C>T (p.Pro347Ser)
c.607C>T (p.Pro203Ser)
2g.102451847C>ACA347947062IL18RAPc.1466C>A (p.Pro489His)
c.1040C>A (p.Pro347His)
c.608C>A (p.Pro203His)
2g.102451847C=CA1275266628IL18RAPc.1466C= (p.Pro489=)
c.1040C= (p.Pro347=)
c.608C= (p.Pro203=)
2g.102451847C>GCA347947068IL18RAPc.1466C>G (p.Pro489Arg)
c.1040C>G (p.Pro347Arg)
c.608C>G (p.Pro203Arg)
2g.102451847C>TCA347947070IL18RAPc.1466C>T (p.Pro489Leu)
c.1040C>T (p.Pro347Leu)
c.608C>T (p.Pro203Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451848C>ACA427843775IL18RAPc.1467C>A (p.Pro489=)
c.1041C>A (p.Pro347=)
c.609C>A (p.Pro203=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451848C=CA1275266631IL18RAPc.1467C= (p.Pro489=)
c.1041C= (p.Pro347=)
c.609C= (p.Pro203=)
2g.102451848C>GCA427843776IL18RAPc.1467C>G (p.Pro489=)
c.1041C>G (p.Pro347=)
c.609C>G (p.Pro203=)
gnomAD v4
2g.102451848C>TCA427843778IL18RAPc.1467C>T (p.Pro489=)
c.1041C>T (p.Pro347=)
c.609C>T (p.Pro203=)
2g.102451848_102451851delCA2660480961IL18RAPc.1467_1470del (p.Ile491LeufsTer7)
c.1041_1044del (p.Ile349LeufsTer7)
c.609_612del (p.Ile205LeufsTer7)
gnomAD v4
2g.102451849A=CA1275266633IL18RAPc.1468A= (p.Ser490=)
c.1042A= (p.Ser348=)
c.610A= (p.Ser204=)
2g.102451849A>CCA347947076IL18RAPc.1468A>C (p.Ser490Arg)
c.1042A>C (p.Ser348Arg)
c.610A>C (p.Ser204Arg)
2g.102451849A>GCA347947080IL18RAPc.1468A>G (p.Ser490Gly)
c.1042A>G (p.Ser348Gly)
c.610A>G (p.Ser204Gly)
dbSNP
2g.102451849A>TCA347947083IL18RAPc.1468A>T (p.Ser490Cys)
c.1042A>T (p.Ser348Cys)
c.610A>T (p.Ser204Cys)
2g.102451850G>ACA347947088IL18RAPc.1469G>A (p.Ser490Asn)
c.1043G>A (p.Ser348Asn)
c.611G>A (p.Ser204Asn)
2g.102451850G>CCA347947089IL18RAPc.1469G>C (p.Ser490Thr)
c.1043G>C (p.Ser348Thr)
c.611G>C (p.Ser204Thr)
gnomAD v4
2g.102451850G>TCA347947090IL18RAPc.1469G>T (p.Ser490Ile)
c.1043G>T (p.Ser348Ile)
c.611G>T (p.Ser204Ile)
gnomAD v4
2g.102451851T>ACA347947098IL18RAPc.1470T>A (p.Ser490Arg)
c.1044T>A (p.Ser348Arg)
c.612T>A (p.Ser204Arg)
2g.102451851T>CCA427843779IL18RAPc.1470T>C (p.Ser490=)
c.1044T>C (p.Ser348=)
c.612T>C (p.Ser204=)
2g.102451851T>GCA347947092IL18RAPc.1470T>G (p.Ser490Arg)
c.1044T>G (p.Ser348Arg)
c.612T>G (p.Ser204Arg)
2g.102451852A=CA1275266636IL18RAPc.1471A= (p.Ile491=)
c.1045A= (p.Ile349=)
c.613A= (p.Ile205=)
2g.102451852A>CCA347947101IL18RAPc.1471A>C (p.Ile491Leu)
c.1045A>C (p.Ile349Leu)
c.613A>C (p.Ile205Leu)
2g.102451852A>GCA347947118IL18RAPc.1471A>G (p.Ile491Val)
c.1045A>G (p.Ile349Val)
c.613A>G (p.Ile205Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451852A>TCA347947122IL18RAPc.1471A>T (p.Ile491Phe)
c.1045A>T (p.Ile349Phe)
c.613A>T (p.Ile205Phe)
2g.102451853T>ACA347947125IL18RAPc.1472T>A (p.Ile491Asn)
c.1046T>A (p.Ile349Asn)
c.614T>A (p.Ile205Asn)
gnomAD v4
2g.102451853T>CCA347947127IL18RAPc.1472T>C (p.Ile491Thr)
c.1046T>C (p.Ile349Thr)
c.614T>C (p.Ile205Thr)
2g.102451853T>GCA347947128IL18RAPc.1472T>G (p.Ile491Ser)
c.1046T>G (p.Ile349Ser)
c.614T>G (p.Ile205Ser)
2g.102451854C>ACA427843780IL18RAPc.1473C>A (p.Ile491=)
c.1047C>A (p.Ile349=)
c.615C>A (p.Ile205=)
gnomAD v4
2g.102451854C>GCA347947129IL18RAPc.1473C>G (p.Ile491Met)
c.1047C>G (p.Ile349Met)
c.615C>G (p.Ile205Met)
2g.102451854C>TCA427843781IL18RAPc.1473C>T (p.Ile491=)
c.1047C>T (p.Ile349=)
c.615C>T (p.Ile205=)
COSMIC
2g.102451855T>ACA347947130IL18RAPc.1474T>A (p.Phe492Ile)
c.1048T>A (p.Phe350Ile)
c.616T>A (p.Phe206Ile)
2g.102451855T>CCA347947131IL18RAPc.1474T>C (p.Phe492Leu)
c.1048T>C (p.Phe350Leu)
c.616T>C (p.Phe206Leu)
2g.102451855T>GCA347947132IL18RAPc.1474T>G (p.Phe492Val)
c.1048T>G (p.Phe350Val)
c.616T>G (p.Phe206Val)
gnomAD v4
2g.102451856T>ACA347947135IL18RAPc.1475T>A (p.Phe492Tyr)
c.1049T>A (p.Phe350Tyr)
c.617T>A (p.Phe206Tyr)
2g.102451856T>CCA347947142IL18RAPc.1475T>C (p.Phe492Ser)
c.1049T>C (p.Phe350Ser)
c.617T>C (p.Phe206Ser)
2g.102451856T>GCA347947144IL18RAPc.1475T>G (p.Phe492Cys)
c.1049T>G (p.Phe350Cys)
c.617T>G (p.Phe206Cys)
2g.102451857T>ACA347947152IL18RAPc.1476T>A (p.Phe492Leu)
c.1050T>A (p.Phe350Leu)
c.618T>A (p.Phe206Leu)
2g.102451857T>CCA1810646IL18RAPc.1476T>C (p.Phe492=)
c.1050T>C (p.Phe350=)
c.618T>C (p.Phe206=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451857T>GCA347947149IL18RAPc.1476T>G (p.Phe492Leu)
c.1050T>G (p.Phe350Leu)
c.618T>G (p.Phe206Leu)
2g.102451857T=CA1275266639IL18RAPc.1476T= (p.Phe492=)
c.1050T= (p.Phe350=)
c.618T= (p.Phe206=)
2g.102451858delCA2660480962IL18RAPc.1477del (p.Glu493AsnfsTer6)
c.1051del (p.Glu351AsnfsTer6)
c.619del (p.Glu207AsnfsTer6)
gnomAD v4
2g.102451858G>ACA347947153IL18RAPc.1477G>A (p.Glu493Lys)
c.1051G>A (p.Glu351Lys)
c.619G>A (p.Glu207Lys)
2g.102451858G>CCA347947154IL18RAPc.1477G>C (p.Glu493Gln)
c.1051G>C (p.Glu351Gln)
c.619G>C (p.Glu207Gln)
2g.102451858G>TCA347947155IL18RAPc.1477G>T (p.Glu493Ter)
c.1051G>T (p.Glu351Ter)
c.619G>T (p.Glu207Ter)
2g.102451859A>CCA347947159IL18RAPc.1478A>C (p.Glu493Ala)
c.1052A>C (p.Glu351Ala)
c.620A>C (p.Glu207Ala)
2g.102451859A>GCA347947162IL18RAPc.1478A>G (p.Glu493Gly)
c.1052A>G (p.Glu351Gly)
c.620A>G (p.Glu207Gly)
2g.102451859A>TCA347947167IL18RAPc.1478A>T (p.Glu493Val)
c.1052A>T (p.Glu351Val)
c.620A>T (p.Glu207Val)
2g.102451860A>CCA347947171IL18RAPc.1479A>C (p.Glu493Asp)
c.1053A>C (p.Glu351Asp)
c.621A>C (p.Glu207Asp)
2g.102451860A>GCA427843782IL18RAPc.1479A>G (p.Glu493=)
c.1053A>G (p.Glu351=)
c.621A>G (p.Glu207=)
2g.102451860A>TCA347947174IL18RAPc.1479A>T (p.Glu493Asp)
c.1053A>T (p.Glu351Asp)
c.621A>T (p.Glu207Asp)
2g.102451861C>ACA347947177IL18RAPc.1480C>A (p.Leu494Ile)
c.1054C>A (p.Leu352Ile)
c.622C>A (p.Leu208Ile)
dbSNP
2g.102451861C=CA1275266641IL18RAPc.1480C= (p.Leu494=)
c.1054C= (p.Leu352=)
c.622C= (p.Leu208=)
2g.102451861C>GCA347947178IL18RAPc.1480C>G (p.Leu494Val)
c.1054C>G (p.Leu352Val)
c.622C>G (p.Leu208Val)
2g.102451861C>TCA427843784IL18RAPc.1480C>T (p.Leu494=)
c.1054C>T (p.Leu352=)
c.622C>T (p.Leu208=)
dbSNP gnomAD v4
2g.102451862T>ACA347947179IL18RAPc.1481T>A (p.Leu494Gln)
c.1055T>A (p.Leu352Gln)
c.623T>A (p.Leu208Gln)
2g.102451862T>CCA347947181IL18RAPc.1481T>C (p.Leu494Pro)
c.1055T>C (p.Leu352Pro)
c.623T>C (p.Leu208Pro)
2g.102451862T>GCA347947185IL18RAPc.1481T>G (p.Leu494Arg)
c.1055T>G (p.Leu352Arg)
c.623T>G (p.Leu208Arg)
2g.102451863A=CA1275266645IL18RAPc.1482A= (p.Leu494=)
c.1056A= (p.Leu352=)
c.624A= (p.Leu208=)
2g.102451863A>CCA427843785IL18RAPc.1482A>C (p.Leu494=)
c.1056A>C (p.Leu352=)
c.624A>C (p.Leu208=)
2g.102451863A>GCA427843786IL18RAPc.1482A>G (p.Leu494=)
c.1056A>G (p.Leu352=)
c.624A>G (p.Leu208=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451863A>TCA427843787IL18RAPc.1482A>T (p.Leu494=)
c.1056A>T (p.Leu352=)
c.624A>T (p.Leu208=)
2g.102451864C>ACA347947188IL18RAPc.1483C>A (p.Gln495Lys)
c.1057C>A (p.Gln353Lys)
c.625C>A (p.Gln209Lys)
2g.102451864C>GCA347947187IL18RAPc.1483C>G (p.Gln495Glu)
c.1057C>G (p.Gln353Glu)
c.625C>G (p.Gln209Glu)
2g.102451864C>TCA347947186IL18RAPc.1483C>T (p.Gln495Ter)
c.1057C>T (p.Gln353Ter)
c.625C>T (p.Gln209Ter)
gnomAD v4
2g.102451865A>CCA347947189IL18RAPc.1484A>C (p.Gln495Pro)
c.1058A>C (p.Gln353Pro)
c.626A>C (p.Gln209Pro)
2g.102451865A>GCA347947190IL18RAPc.1484A>G (p.Gln495Arg)
c.1058A>G (p.Gln353Arg)
c.626A>G (p.Gln209Arg)
2g.102451865A>TCA347947191IL18RAPc.1484A>T (p.Gln495Leu)
c.1058A>T (p.Gln353Leu)
c.626A>T (p.Gln209Leu)
2g.102451866A>CCA347947197IL18RAPc.1485A>C (p.Gln495His)
c.1059A>C (p.Gln353His)
c.627A>C (p.Gln209His)
2g.102451866A>GCA427843788IL18RAPc.1485A>G (p.Gln495=)
c.1059A>G (p.Gln353=)
c.627A>G (p.Gln209=)
2g.102451866A>TCA347947201IL18RAPc.1485A>T (p.Gln495His)
c.1059A>T (p.Gln353His)
c.627A>T (p.Gln209His)
2g.102451867G>ACA347947205IL18RAPc.1486G>A (p.Ala496Thr)
c.1060G>A (p.Ala354Thr)
c.628G>A (p.Ala210Thr)
gnomAD v4
2g.102451867G>CCA347947208IL18RAPc.1486G>C (p.Ala496Pro)
c.1060G>C (p.Ala354Pro)
c.628G>C (p.Ala210Pro)
2g.102451867G>TCA347947210IL18RAPc.1486G>T (p.Ala496Ser)
c.1060G>T (p.Ala354Ser)
c.628G>T (p.Ala210Ser)
2g.102451868C>ACA347947213IL18RAPc.1487C>A (p.Ala496Glu)
c.1061C>A (p.Ala354Glu)
c.629C>A (p.Ala210Glu)
gnomAD v4
2g.102451868C=CA1275266648IL18RAPc.1487C= (p.Ala496=)
c.1061C= (p.Ala354=)
c.629C= (p.Ala210=)
2g.102451868C>GCA1810647IL18RAPc.1487C>G (p.Ala496Gly)
c.1061C>G (p.Ala354Gly)
c.629C>G (p.Ala210Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451868C>TCA347947217IL18RAPc.1487C>T (p.Ala496Val)
c.1061C>T (p.Ala354Val)
c.629C>T (p.Ala210Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451869A>CCA427843789IL18RAPc.1488A>C (p.Ala496=)
c.1062A>C (p.Ala354=)
c.630A>C (p.Ala210=)
2g.102451869A>GCA427843790IL18RAPc.1488A>G (p.Ala496=)
c.1062A>G (p.Ala354=)
c.630A>G (p.Ala210=)
gnomAD v4
2g.102451869A>TCA427843791IL18RAPc.1488A>T (p.Ala496=)
c.1062A>T (p.Ala354=)
c.630A>T (p.Ala210=)
2g.102451870G>ACA347947219IL18RAPc.1489G>A (p.Ala497Thr)
c.1063G>A (p.Ala355Thr)
c.631G>A (p.Ala211Thr)
2g.102451870G>CCA347947223IL18RAPc.1489G>C (p.Ala497Pro)
c.1063G>C (p.Ala355Pro)
c.631G>C (p.Ala211Pro)
2g.102451870G>TCA347947225IL18RAPc.1489G>T (p.Ala497Ser)
c.1063G>T (p.Ala355Ser)
c.631G>T (p.Ala211Ser)
2g.102451871C>ACA347947243IL18RAPc.1490C>A (p.Ala497Glu)
c.1064C>A (p.Ala355Glu)
c.632C>A (p.Ala211Glu)
2g.102451871C>GCA347947234IL18RAPc.1490C>G (p.Ala497Gly)
c.1064C>G (p.Ala355Gly)
c.632C>G (p.Ala211Gly)
2g.102451871C>TCA347947230IL18RAPc.1490C>T (p.Ala497Val)
c.1064C>T (p.Ala355Val)
c.632C>T (p.Ala211Val)
2g.102451872A>CCA427843792IL18RAPc.1491A>C (p.Ala497=)
c.1065A>C (p.Ala355=)
c.633A>C (p.Ala211=)
2g.102451872A>GCA427843794IL18RAPc.1491A>G (p.Ala497=)
c.1065A>G (p.Ala355=)
c.633A>G (p.Ala211=)
2g.102451872A>TCA427843793IL18RAPc.1491A>T (p.Ala497=)
c.1065A>T (p.Ala355=)
c.633A>T (p.Ala211=)
2g.102451873G>ACA347947247IL18RAPc.1492G>A (p.Val498Met)
c.1066G>A (p.Val356Met)
c.634G>A (p.Val212Met)
gnomAD v4
2g.102451873G>CCA347947251IL18RAPc.1492G>C (p.Val498Leu)
c.1066G>C (p.Val356Leu)
c.634G>C (p.Val212Leu)
2g.102451873G>TCA347947256IL18RAPc.1492G>T (p.Val498Leu)
c.1066G>T (p.Val356Leu)
c.634G>T (p.Val212Leu)
2g.102451874T>ACA347947259IL18RAPc.1493T>A (p.Val498Glu)
c.1067T>A (p.Val356Glu)
c.635T>A (p.Val212Glu)
2g.102451874T>CCA347947263IL18RAPc.1493T>C (p.Val498Ala)
c.1067T>C (p.Val356Ala)
c.635T>C (p.Val212Ala)
2g.102451874T>GCA347947268IL18RAPc.1493T>G (p.Val498Gly)
c.1067T>G (p.Val356Gly)
c.635T>G (p.Val212Gly)
2g.102451875G>ACA427843795IL18RAPc.1494G>A (p.Val498=)
c.1068G>A (p.Val356=)
c.636G>A (p.Val212=)
2g.102451875G>CCA427843796IL18RAPc.1494G>C (p.Val498=)
c.1068G>C (p.Val356=)
c.636G>C (p.Val212=)
2g.102451875G=CA1275266652IL18RAPc.1494G= (p.Val498=)
c.1068G= (p.Val356=)
c.636G= (p.Val212=)
2g.102451875G>TCA427843797IL18RAPc.1494G>T (p.Val498=)
c.1068G>T (p.Val356=)
c.636G>T (p.Val212=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451876A>CCA347947280IL18RAPc.1495A>C (p.Asn499His)
c.1069A>C (p.Asn357His)
c.637A>C (p.Asn213His)
2g.102451876A>GCA347947273IL18RAPc.1495A>G (p.Asn499Asp)
c.1069A>G (p.Asn357Asp)
c.637A>G (p.Asn213Asp)
2g.102451876A>TCA347947275IL18RAPc.1495A>T (p.Asn499Tyr)
c.1069A>T (p.Asn357Tyr)
c.637A>T (p.Asn213Tyr)
2g.102451877A>CCA347947285IL18RAPc.1496A>C (p.Asn499Thr)
c.1070A>C (p.Asn357Thr)
c.638A>C (p.Asn213Thr)
2g.102451877A>GCA347947287IL18RAPc.1496A>G (p.Asn499Ser)
c.1070A>G (p.Asn357Ser)
c.638A>G (p.Asn213Ser)
gnomAD v4
2g.102451877A>TCA347947292IL18RAPc.1496A>T (p.Asn499Ile)
c.1070A>T (p.Asn357Ile)
c.638A>T (p.Asn213Ile)
2g.102451878T>ACA347947296IL18RAPc.1497T>A (p.Asn499Lys)
c.1071T>A (p.Asn357Lys)
c.639T>A (p.Asn213Lys)
2g.102451878T>CCA427843798IL18RAPc.1497T>C (p.Asn499=)
c.1071T>C (p.Asn357=)
c.639T>C (p.Asn213=)
2g.102451878T>GCA347947299IL18RAPc.1497T>G (p.Asn499Lys)
c.1071T>G (p.Asn357Lys)
c.639T>G (p.Asn213Lys)
2g.102451879C>ACA347947302IL18RAPc.1498C>A (p.Leu500Ile)
c.1072C>A (p.Leu358Ile)
c.640C>A (p.Leu214Ile)
2g.102451879C=CA1275266654IL18RAPc.1498C= (p.Leu500=)
c.1072C= (p.Leu358=)
c.640C= (p.Leu214=)
2g.102451879C>GCA347947300IL18RAPc.1498C>G (p.Leu500Val)
c.1072C>G (p.Leu358Val)
c.640C>G (p.Leu214Val)
2g.102451879C>TCA347947301IL18RAPc.1498C>T (p.Leu500Phe)
c.1072C>T (p.Leu358Phe)
c.640C>T (p.Leu214Phe)
dbSNP
2g.102451880T>ACA347947306IL18RAPc.1499T>A (p.Leu500His)
c.1073T>A (p.Leu358His)
c.641T>A (p.Leu214His)
2g.102451880T>CCA347947307IL18RAPc.1499T>C (p.Leu500Pro)
c.1073T>C (p.Leu358Pro)
c.641T>C (p.Leu214Pro)
2g.102451880T>GCA347947313IL18RAPc.1499T>G (p.Leu500Arg)
c.1073T>G (p.Leu358Arg)
c.641T>G (p.Leu214Arg)
2g.102451881T>ACA427843800IL18RAPc.1500T>A (p.Leu500=)
c.1074T>A (p.Leu358=)
c.642T>A (p.Leu214=)
2g.102451881T>CCA427843799IL18RAPc.1500T>C (p.Leu500=)
c.1074T>C (p.Leu358=)
c.642T>C (p.Leu214=)
2g.102451881T>GCA1810648IL18RAPc.1500T>G (p.Leu500=)
c.1074T>G (p.Leu358=)
c.642T>G (p.Leu214=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451881T=CA1275266657IL18RAPc.1500T= (p.Leu500=)
c.1074T= (p.Leu358=)
c.642T= (p.Leu214=)
2g.102451882G>ACA347947318IL18RAPc.1501G>A (p.Ala501Thr)
c.1075G>A (p.Ala359Thr)
c.643G>A (p.Ala215Thr)
dbSNP gnomAD v3 gnomAD v4
2g.102451882G>CCA347947323IL18RAPc.1501G>C (p.Ala501Pro)
c.1075G>C (p.Ala359Pro)
c.643G>C (p.Ala215Pro)
2g.102451882G=CA1275266660IL18RAPc.1501G= (p.Ala501=)
c.1075G= (p.Ala359=)
c.643G= (p.Ala215=)
2g.102451882G>TCA347947327IL18RAPc.1501G>T (p.Ala501Ser)
c.1075G>T (p.Ala359Ser)
c.643G>T (p.Ala215Ser)
gnomAD v4
2g.102451883C>ACA347947335IL18RAPc.1502C>A (p.Ala501Asp)
c.1076C>A (p.Ala359Asp)
c.644C>A (p.Ala215Asp)
2g.102451883C=CA1275266664IL18RAPc.1502C= (p.Ala501=)
c.1076C= (p.Ala359=)
c.644C= (p.Ala215=)
2g.102451883C>GCA347947354IL18RAPc.1502C>G (p.Ala501Gly)
c.1076C>G (p.Ala359Gly)
c.644C>G (p.Ala215Gly)
2g.102451883C>TCA347947356IL18RAPc.1502C>T (p.Ala501Val)
c.1076C>T (p.Ala359Val)
c.644C>T (p.Ala215Val)
dbSNP gnomAD v2 COSMIC
2g.102451884C>ACA427843801IL18RAPc.1503C>A (p.Ala501=)
c.1077C>A (p.Ala359=)
c.645C>A (p.Ala215=)
2g.102451884C>GCA427843802IL18RAPc.1503C>G (p.Ala501=)
c.1077C>G (p.Ala359=)
c.645C>G (p.Ala215=)
2g.102451884C>TCA427843803IL18RAPc.1503C>T (p.Ala501=)
c.1077C>T (p.Ala359=)
c.645C>T (p.Ala215=)
2g.102451885T>ACA347947360IL18RAPc.1504T>A (p.Leu502Met)
c.1078T>A (p.Leu360Met)
c.646T>A (p.Leu216Met)
2g.102451885T>CCA427843804IL18RAPc.1504T>C (p.Leu502=)
c.1078T>C (p.Leu360=)
c.646T>C (p.Leu216=)
2g.102451885T>GCA347947377IL18RAPc.1504T>G (p.Leu502Val)
c.1078T>G (p.Leu360Val)
c.646T>G (p.Leu216Val)

Number of alleles fetched