Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1014008C>ACA337803453ISG15c.4C>A (p.Leu2Met)
c.28C>A (p.Leu10Met)
gnomAD v4
1g.1014008C>GCA337803454ISG15c.4C>G (p.Leu2Val)
c.28C>G (p.Leu10Val)
gnomAD v4
1g.1014008C>TCA415756034ISG15c.4C>T (p.Leu2=)
c.28C>T (p.Leu10=)
gnomAD v4
1g.1014009T>ACA337803455ISG15c.5T>A (p.Leu2Gln)
c.29T>A (p.Leu10Gln)
1g.1014009T>CCA337803457ISG15c.5T>C (p.Leu2Pro)
c.29T>C (p.Leu10Pro)
gnomAD v4
1g.1014009T>GCA337803456ISG15c.5T>G (p.Leu2Arg)
c.29T>G (p.Leu10Arg)
1g.1014010G>ACA415756038ISG15c.6G>A (p.Leu2=)
c.30G>A (p.Leu10=)
dbSNP gnomAD v3 gnomAD v4
1g.1014010G>CCA415756039ISG15c.6G>C (p.Leu2=)
c.30G>C (p.Leu10=)
dbSNP
1g.1014010G=CA1148733587ISG15c.6G= (p.Leu2=)
c.30G= (p.Leu10=)
1g.1014010G>TCA415756040ISG15c.6G>T (p.Leu2=)
c.30G>T (p.Leu10=)
1g.1014011G>ACA337803458ISG15c.7G>A (p.Ala3Thr)
c.31G>A (p.Ala11Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1014011G>CCA337803459ISG15c.7G>C (p.Ala3Pro)
c.31G>C (p.Ala11Pro)
gnomAD v4
1g.1014011G=CA1148733617ISG15c.7G= (p.Ala3=)
c.31G= (p.Ala11=)
1g.1014011G>TCA337803460ISG15c.7G>T (p.Ala3Ser)
c.31G>T (p.Ala11Ser)
1g.1014012C>ACA337803461ISG15c.8C>A (p.Ala3Glu)
c.32C>A (p.Ala11Glu)
dbSNP gnomAD v3 gnomAD v4
1g.1014012C=CA1148733624ISG15c.8C= (p.Ala3=)
c.32C= (p.Ala11=)
1g.1014012C>GCA337803462ISG15c.8C>G (p.Ala3Gly)
c.32C>G (p.Ala11Gly)
1g.1014012C>TCA16725097ISG15c.8C>T (p.Ala3Val)
c.32C>T (p.Ala11Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1014012_1014013delinsCGCA1148733625ISG15c.8_9delinsCG (p.Ala3=)
c.32_33delinsCG (p.Ala11=)
1g.1014013G>ACA507597ISG15c.9G>A (p.Ala3=)
c.33G>A (p.Ala11=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014013G>CCA415756044ISG15c.9G>C (p.Ala3=)
c.33G>C (p.Ala11=)
1g.1014013G=CA1144150216ISG15c.9G= (p.Ala3=)
c.33G= (p.Ala11=)
1g.1014013G>TCA415756046ISG15c.9G>T (p.Ala3=)
c.33G>T (p.Ala11=)
1g.1014015delCA520623824ISG15c.11del (p.Gly4AlafsTer8)
c.35del (p.Gly12AlafsTer8)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1014014G>ACA337803463ISG15c.10G>A (p.Gly4Ser)
c.34G>A (p.Gly12Ser)
gnomAD v4
1g.1014014G>CCA337803464ISG15c.10G>C (p.Gly4Arg)
c.34G>C (p.Gly12Arg)
1g.1014014G>TCA337803465ISG15c.10G>T (p.Gly4Cys)
c.34G>T (p.Gly12Cys)
1g.1014015G>ACA507598ISG15c.11G>A (p.Gly4Asp)
c.35G>A (p.Gly12Asp)
dbSNP ExAC gnomAD v2
1g.1014015G>CCA337803467ISG15c.11G>C (p.Gly4Ala)
c.35G>C (p.Gly12Ala)
1g.1014015G=CA1148733652ISG15c.11G= (p.Gly4=)
c.35G= (p.Gly12=)
1g.1014015G>TCA337803466ISG15c.11G>T (p.Gly4Val)
c.35G>T (p.Gly12Val)
1g.1014016C>ACA415756047ISG15c.12C>A (p.Gly4=)
c.36C>A (p.Gly12=)
1g.1014016C>GCA415756048ISG15c.12C>G (p.Gly4=)
c.36C>G (p.Gly12=)
1g.1014016C>TCA415756049ISG15c.12C>T (p.Gly4=)
c.36C>T (p.Gly12=)
gnomAD v4
1g.1014017A>CCA337803468ISG15c.13A>C (p.Asn5His)
c.37A>C (p.Asn13His)
1g.1014017A>GCA337803487ISG15c.13A>G (p.Asn5Asp)
c.37A>G (p.Asn13Asp)
gnomAD v4
1g.1014017A>TCA337803488ISG15c.13A>T (p.Asn5Tyr)
c.37A>T (p.Asn13Tyr)
1g.1014018A>CCA337803489ISG15c.14A>C (p.Asn5Thr)
c.38A>C (p.Asn13Thr)
1g.1014018A>GCA337803490ISG15c.14A>G (p.Asn5Ser)
c.38A>G (p.Asn13Ser)
1g.1014018A>TCA337803491ISG15c.14A>T (p.Asn5Ile)
c.38A>T (p.Asn13Ile)
1g.1014019C>ACA337803492ISG15c.15C>A (p.Asn5Lys)
c.39C>A (p.Asn13Lys)
1g.1014019C=CA1143692746ISG15c.15C= (p.Asn5=)
c.39C= (p.Asn13=)
1g.1014019C>GCA337803493ISG15c.15C>G (p.Asn5Lys)
c.39C>G (p.Asn13Lys)
1g.1014019C>TCA507599ISG15c.15C>T (p.Asn5=)
c.39C>T (p.Asn13=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014020G>ACA507600ISG15c.16G>A (p.Glu6Lys)
c.40G>A (p.Glu14Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014020G>CCA507601ISG15c.16G>C (p.Glu6Gln)
c.40G>C (p.Glu14Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014020G=CA1143542619ISG15c.16G= (p.Glu6=)
c.40G= (p.Glu14=)
1g.1014020G>TCA337803494ISG15c.16G>T (p.Glu6Ter)
c.40G>T (p.Glu14Ter)
dbSNP gnomAD v2 gnomAD v4
1g.1014021A>CCA337803497ISG15c.17A>C (p.Glu6Ala)
c.41A>C (p.Glu14Ala)
1g.1014021A>GCA337803496ISG15c.17A>G (p.Glu6Gly)
c.41A>G (p.Glu14Gly)
1g.1014021A>TCA337803495ISG15c.17A>T (p.Glu6Val)
c.41A>T (p.Glu14Val)
ClinVar
1g.1014022A=CA1148733676ISG15c.18A= (p.Glu6=)
c.42A= (p.Glu14=)
1g.1014022A>CCA337803498ISG15c.18A>C (p.Glu6Asp)
c.42A>C (p.Glu14Asp)
1g.1014022A>GCA415756110ISG15c.18A>G (p.Glu6=)
c.42A>G (p.Glu14=)
dbSNP gnomAD v3 gnomAD v4
1g.1014022A>TCA337803499ISG15c.18A>T (p.Glu6Asp)
c.42A>T (p.Glu14Asp)
dbSNP gnomAD v2 gnomAD v4
1g.1014023T>ACA337803500ISG15c.19T>A (p.Phe7Ile)
c.43T>A (p.Phe15Ile)
1g.1014023T>CCA337803501ISG15c.19T>C (p.Phe7Leu)
c.43T>C (p.Phe15Leu)
1g.1014023T>GCA337803502ISG15c.19T>G (p.Phe7Val)
c.43T>G (p.Phe15Val)
1g.1014024T>ACA337803503ISG15c.20T>A (p.Phe7Tyr)
c.44T>A (p.Phe15Tyr)
1g.1014024T>CCA337803505ISG15c.20T>C (p.Phe7Ser)
c.44T>C (p.Phe15Ser)
1g.1014024T>GCA337803511ISG15c.20T>G (p.Phe7Cys)
c.44T>G (p.Phe15Cys)
1g.1014025C>ACA337803512ISG15c.21C>A (p.Phe7Leu)
c.45C>A (p.Phe15Leu)
1g.1014025C>GCA337803513ISG15c.21C>G (p.Phe7Leu)
c.45C>G (p.Phe15Leu)
1g.1014025C>TCA415756111ISG15c.21C>T (p.Phe7=)
c.45C>T (p.Phe15=)
gnomAD v4
1g.1014026C>ACA337803516ISG15c.22C>A (p.Gln8Lys)
c.46C>A (p.Gln16Lys)
gnomAD v4
1g.1014026C=CA1148733681ISG15c.22C= (p.Gln8=)
c.46C= (p.Gln16=)
1g.1014026C>GCA337803517ISG15c.22C>G (p.Gln8Glu)
c.46C>G (p.Gln16Glu)
1g.1014026C>TCA337803518ISG15c.22C>T (p.Gln8Ter)
c.46C>T (p.Gln16Ter)
dbSNP gnomAD v4
1g.1014027A>CCA337803522ISG15c.23A>C (p.Gln8Pro)
c.47A>C (p.Gln16Pro)
1g.1014027A>GCA337803523ISG15c.23A>G (p.Gln8Arg)
c.47A>G (p.Gln16Arg)
gnomAD v4
1g.1014027A>TCA337803521ISG15c.23A>T (p.Gln8Leu)
c.47A>T (p.Gln16Leu)
gnomAD v4
1g.1014028G>ACA415756114ISG15c.24G>A (p.Gln8=)
c.48G>A (p.Gln16=)
1g.1014028G>CCA337803525ISG15c.24G>C (p.Gln8His)
c.48G>C (p.Gln16His)
gnomAD v4
1g.1014028G>TCA337803527ISG15c.24G>T (p.Gln8His)
c.48G>T (p.Gln16His)
1g.1014029G>ACA337803529ISG15c.25G>A (p.Val9Met)
c.49G>A (p.Val17Met)
1g.1014029G>CCA337803531ISG15c.25G>C (p.Val9Leu)
c.49G>C (p.Val17Leu)
1g.1014029G>TCA337803532ISG15c.25G>T (p.Val9Leu)
c.49G>T (p.Val17Leu)
1g.1014030T>ACA337803534ISG15c.26T>A (p.Val9Glu)
c.50T>A (p.Val17Glu)
1g.1014030T>CCA337803536ISG15c.26T>C (p.Val9Ala)
c.50T>C (p.Val17Ala)
1g.1014030T>GCA337803537ISG15c.26T>G (p.Val9Gly)
c.50T>G (p.Val17Gly)
1g.1014031G>ACA415756119ISG15c.27G>A (p.Val9=)
c.51G>A (p.Val17=)
dbSNP gnomAD v2 gnomAD v4
1g.1014031G>CCA415756121ISG15c.27G>C (p.Val9=)
c.51G>C (p.Val17=)
1g.1014031G=CA1148733683ISG15c.27G= (p.Val9=)
c.51G= (p.Val17=)
1g.1014031G>TCA415756120ISG15c.27G>T (p.Val9=)
c.51G>T (p.Val17=)
1g.1014032T>ACA337803539ISG15c.28T>A (p.Ser10Thr)
c.52T>A (p.Ser18Thr)
1g.1014032T>CCA337803542ISG15c.28T>C (p.Ser10Pro)
c.52T>C (p.Ser18Pro)
dbSNP
1g.1014032T>GCA337803543ISG15c.28T>G (p.Ser10Ala)
c.52T>G (p.Ser18Ala)
1g.1014032T=CA1148733686ISG15c.28T= (p.Ser10=)
c.52T= (p.Ser18=)
1g.1014033C>ACA337803544ISG15c.29C>A (p.Ser10Tyr)
c.53C>A (p.Ser18Tyr)
1g.1014033C>GCA337803545ISG15c.29C>G (p.Ser10Cys)
c.53C>G (p.Ser18Cys)
1g.1014033C>TCA337803546ISG15c.29C>T (p.Ser10Phe)
c.53C>T (p.Ser18Phe)
1g.1014034C>ACA415756129ISG15c.30C>A (p.Ser10=)
c.54C>A (p.Ser18=)
gnomAD v4
1g.1014034C>GCA415756130ISG15c.30C>G (p.Ser10=)
c.54C>G (p.Ser18=)
1g.1014034C>TCA415756133ISG15c.30C>T (p.Ser10=)
c.54C>T (p.Ser18=)
1g.1014035C>ACA16725124ISG15c.31C>A (p.Leu11Met)
c.55C>A (p.Leu19Met)
dbSNP
1g.1014035C=CA1140703448ISG15c.31C= (p.Leu11=)
c.55C= (p.Leu19=)
1g.1014035C>GCA337803547ISG15c.31C>G (p.Leu11Val)
c.55C>G (p.Leu19Val)
gnomAD v4
1g.1014035C>TCA415756134ISG15c.31C>T (p.Leu11=)
c.55C>T (p.Leu19=)
COSMIC
1g.1014036T>ACA337803549ISG15c.32T>A (p.Leu11Gln)
c.56T>A (p.Leu19Gln)
1g.1014036T>CCA337803550ISG15c.32T>C (p.Leu11Pro)
c.56T>C (p.Leu19Pro)
gnomAD v4
1g.1014036T>GCA337803552ISG15c.32T>G (p.Leu11Arg)
c.56T>G (p.Leu19Arg)
1g.1014037G>ACA415756137ISG15c.33G>A (p.Leu11=)
c.57G>A (p.Leu19=)
1g.1014037G>CCA415756136ISG15c.33G>C (p.Leu11=)
c.57G>C (p.Leu19=)
1g.1014037G>TCA415756135ISG15c.33G>T (p.Leu11=)
c.57G>T (p.Leu19=)
1g.1014038A>CCA337803555ISG15c.34A>C (p.Ser12Arg)
c.58A>C (p.Ser20Arg)
1g.1014038A>GCA337803556ISG15c.34A>G (p.Ser12Gly)
c.58A>G (p.Ser20Gly)
1g.1014038A>TCA337803558ISG15c.34A>T (p.Ser12Cys)
c.58A>T (p.Ser20Cys)
1g.1014039G>ACA337803563ISG15c.35G>A (p.Ser12Asn)
c.59G>A (p.Ser20Asn)
1g.1014039G>CCA337803560ISG15c.35G>C (p.Ser12Thr)
c.59G>C (p.Ser20Thr)
1g.1014039G>TCA337803562ISG15c.35G>T (p.Ser12Ile)
c.59G>T (p.Ser20Ile)
1g.1014040C>ACA337803564ISG15c.36C>A (p.Ser12Arg)
c.60C>A (p.Ser20Arg)
dbSNP
1g.1014040C=CA1148733694ISG15c.36C= (p.Ser12=)
c.60C= (p.Ser20=)
1g.1014040C>GCA337803566ISG15c.36C>G (p.Ser12Arg)
c.60C>G (p.Ser20Arg)
1g.1014040C>TCA415756141ISG15c.36C>T (p.Ser12=)
c.60C>T (p.Ser20=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1014041A>CCA337803568ISG15c.37A>C (p.Ser13Arg)
c.61A>C (p.Ser21Arg)
1g.1014041A>GCA337803569ISG15c.37A>G (p.Ser13Gly)
c.61A>G (p.Ser21Gly)
gnomAD v4
1g.1014041A>TCA337803578ISG15c.37A>T (p.Ser13Cys)
c.61A>T (p.Ser21Cys)
1g.1014042G>ACA507602ISG15c.38G>A (p.Ser13Asn)
c.62G>A (p.Ser21Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014042G>CCA337803581ISG15c.38G>C (p.Ser13Thr)
c.62G>C (p.Ser21Thr)
1g.1014042G=CA1141956696ISG15c.38G= (p.Ser13=)
c.62G= (p.Ser21=)
1g.1014042G>TCA337803580ISG15c.38G>T (p.Ser13Ile)
c.62G>T (p.Ser21Ile)
1g.1014043C>ACA337803582ISG15c.39C>A (p.Ser13Arg)
c.63C>A (p.Ser21Arg)
1g.1014043C>GCA337803583ISG15c.39C>G (p.Ser13Arg)
c.63C>G (p.Ser21Arg)
1g.1014043C>TCA415756145ISG15c.39C>T (p.Ser13=)
c.63C>T (p.Ser21=)
1g.1014044T>ACA337803584ISG15c.40T>A (p.Ser14Thr)
c.64T>A (p.Ser22Thr)
1g.1014044T>CCA337803585ISG15c.40T>C (p.Ser14Pro)
c.64T>C (p.Ser22Pro)
1g.1014044T>GCA337803586ISG15c.40T>G (p.Ser14Ala)
c.64T>G (p.Ser22Ala)
1g.1014045C>ACA337803588ISG15c.41C>A (p.Ser14Tyr)
c.65C>A (p.Ser22Tyr)
gnomAD v4
1g.1014045C=CA1142073855ISG15c.41C= (p.Ser14=)
c.65C= (p.Ser22=)
1g.1014045C>GCA337803587ISG15c.41C>G (p.Ser14Cys)
c.65C>G (p.Ser22Cys)
1g.1014045C>TCA507603ISG15c.41C>T (p.Ser14Phe)
c.65C>T (p.Ser22Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014046C>ACA415756146ISG15c.42C>A (p.Ser14=)
c.66C>A (p.Ser22=)
1g.1014046C=CA1148733708ISG15c.42C= (p.Ser14=)
c.66C= (p.Ser22=)
1g.1014046C>GCA415756147ISG15c.42C>G (p.Ser14=)
c.66C>G (p.Ser22=)
1g.1014046C>TCA415756148ISG15c.42C>T (p.Ser14=)
c.66C>T (p.Ser22=)
dbSNP gnomAD v2 gnomAD v4
1g.1014047A=CA1143971416ISG15c.43A= (p.Met15=)
c.67A= (p.Met23=)
1g.1014047A>CCA337803589ISG15c.43A>C (p.Met15Leu)
c.67A>C (p.Met23Leu)
1g.1014047A>GCA507604ISG15c.43A>G (p.Met15Val)
c.67A>G (p.Met23Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014047A>TCA337803590ISG15c.43A>T (p.Met15Leu)
c.67A>T (p.Met23Leu)
1g.1014048T>ACA337803592ISG15c.44T>A (p.Met15Lys)
c.68T>A (p.Met23Lys)
1g.1014048T>CCA337803593ISG15c.44T>C (p.Met15Thr)
c.68T>C (p.Met23Thr)
dbSNP gnomAD v2 gnomAD v4
1g.1014048T>GCA337803596ISG15c.44T>G (p.Met15Arg)
c.68T>G (p.Met23Arg)
gnomAD v4
1g.1014048T=CA1148733732ISG15c.44T= (p.Met15=)
c.68T= (p.Met23=)
1g.1014049G>ACA337803599ISG15c.45G>A (p.Met15Ile)
c.69G>A (p.Met23Ile)
1g.1014049G>CCA337803602ISG15c.45G>C (p.Met15Ile)
c.69G>C (p.Met23Ile)
1g.1014049G>TCA337803600ISG15c.45G>T (p.Met15Ile)
c.69G>T (p.Met23Ile)
1g.1014050_1014150delCA2642487406ISG15c.46_146del (p.Ser16GlyfsTer?)
c.70_170del (p.Ser24GlyfsTer?)
gnomAD v4
1g.1014050T>ACA337803609ISG15c.46T>A (p.Ser16Thr)
c.70T>A (p.Ser24Thr)
1g.1014050T>CCA337803611ISG15c.46T>C (p.Ser16Pro)
c.70T>C (p.Ser24Pro)
1g.1014050T>GCA337803612ISG15c.46T>G (p.Ser16Ala)
c.70T>G (p.Ser24Ala)
1g.1014051C>ACA337803613ISG15c.47C>A (p.Ser16Ter)
c.71C>A (p.Ser24Ter)
dbSNP gnomAD v3 gnomAD v4
1g.1014051C=CA1141645072ISG15c.47C= (p.Ser16=)
c.71C= (p.Ser24=)
1g.1014051C>GCA337803615ISG15c.47C>G (p.Ser16Trp)
c.71C>G (p.Ser24Trp)
1g.1014051C>TCA507605ISG15c.47C>T (p.Ser16Leu)
c.71C>T (p.Ser24Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014052G>ACA16725153ISG15c.48G>A (p.Ser16=)
c.72G>A (p.Ser24=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1014052G>CCA415756156ISG15c.48G>C (p.Ser16=)
c.72G>C (p.Ser24=)
1g.1014052G=CA1148733754ISG15c.48G= (p.Ser16=)
c.72G= (p.Ser24=)
1g.1014052G>TCA415756158ISG15c.48G>T (p.Ser16=)
c.72G>T (p.Ser24=)
1g.1014053G>ACA337803618ISG15c.49G>A (p.Val17Met)
c.73G>A (p.Val25Met)
1g.1014053G>CCA337803620ISG15c.49G>C (p.Val17Leu)
c.73G>C (p.Val25Leu)
1g.1014053G=CA1148733770ISG15c.49G= (p.Val17=)
c.73G= (p.Val25=)
1g.1014053G>TCA507606ISG15c.49G>T (p.Val17Leu)
c.73G>T (p.Val25Leu)
ClinVar dbSNP ExAC gnomAD v4
1g.1014054T>ACA337803622ISG15c.50T>A (p.Val17Glu)
c.74T>A (p.Val25Glu)
1g.1014054T>CCA337803623ISG15c.50T>C (p.Val17Ala)
c.74T>C (p.Val25Ala)
1g.1014054T>GCA337803624ISG15c.50T>G (p.Val17Gly)
c.74T>G (p.Val25Gly)
1g.1014055G>ACA415756168ISG15c.51G>A (p.Val17=)
c.75G>A (p.Val25=)
dbSNP gnomAD v3 gnomAD v4
1g.1014055G>CCA415756170ISG15c.51G>C (p.Val17=)
c.75G>C (p.Val25=)
1g.1014055G=CA1148733948ISG15c.51G= (p.Val17=)
c.75G= (p.Val25=)
1g.1014055G>TCA415756171ISG15c.51G>T (p.Val17=)
c.75G>T (p.Val25=)
1g.1014056T>ACA337803626ISG15c.52T>A (p.Ser18Thr)
c.76T>A (p.Ser26Thr)
1g.1014056T>CCA337803627ISG15c.52T>C (p.Ser18Pro)
c.76T>C (p.Ser26Pro)
1g.1014056T>GCA337803625ISG15c.52T>G (p.Ser18Ala)
c.76T>G (p.Ser26Ala)
dbSNP
1g.1014056T=CA1148733954ISG15c.52T= (p.Ser18=)
c.76T= (p.Ser26=)
1g.1014057C>ACA337803629ISG15c.53C>A (p.Ser18Ter)
c.77C>A (p.Ser26Ter)
gnomAD v4
1g.1014057C>GCA337803628ISG15c.53C>G (p.Ser18Ter)
c.77C>G (p.Ser26Ter)
1g.1014057C>TCA337803630ISG15c.53C>T (p.Ser18Leu)
c.77C>T (p.Ser26Leu)
1g.1014058A=CA1145511096ISG15c.54A= (p.Ser18=)
c.78A= (p.Ser26=)
1g.1014058A>CCA415756179ISG15c.54A>C (p.Ser18=)
c.78A>C (p.Ser26=)
1g.1014058A>GCA507607ISG15c.54A>G (p.Ser18=)
c.78A>G (p.Ser26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014058A>TCA415756180ISG15c.54A>T (p.Ser18=)
c.78A>T (p.Ser26=)
1g.1014059G>ACA337803631ISG15c.55G>A (p.Glu19Lys)
c.79G>A (p.Glu27Lys)
1g.1014059G>CCA337803632ISG15c.55G>C (p.Glu19Gln)
c.79G>C (p.Glu27Gln)
1g.1014059G>TCA337803633ISG15c.55G>T (p.Glu19Ter)
c.79G>T (p.Glu27Ter)
1g.1014060A>CCA337803638ISG15c.56A>C (p.Glu19Ala)
c.80A>C (p.Glu27Ala)
1g.1014060A>GCA337803640ISG15c.56A>G (p.Glu19Gly)
c.80A>G (p.Glu27Gly)
1g.1014060A>TCA337803641ISG15c.56A>T (p.Glu19Val)
c.80A>T (p.Glu27Val)
1g.1014061G>ACA507608ISG15c.57G>A (p.Glu19=)
c.81G>A (p.Glu27=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014061G>CCA337803642ISG15c.57G>C (p.Glu19Asp)
c.81G>C (p.Glu27Asp)
1g.1014061G=CA1148733971ISG15c.57G= (p.Glu19=)
c.81G= (p.Glu27=)
1g.1014061G>TCA337803643ISG15c.57G>T (p.Glu19Asp)
c.81G>T (p.Glu27Asp)
1g.1014062C>ACA337803646ISG15c.58C>A (p.Leu20Met)
c.82C>A (p.Leu28Met)
dbSNP gnomAD v2 gnomAD v4
1g.1014062C=CA1148733984ISG15c.58C= (p.Leu20=)
c.82C= (p.Leu28=)
1g.1014062C>GCA337803648ISG15c.58C>G (p.Leu20Val)
c.82C>G (p.Leu28Val)
1g.1014062C>TCA415756193ISG15c.58C>T (p.Leu20=)
c.82C>T (p.Leu28=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1014062dupCA2642487407ISG15c.58dup (p.Leu20ProfsTer?)
c.82dup (p.Leu28ProfsTer?)
gnomAD v4
1g.1014063T>ACA337803654ISG15c.59T>A (p.Leu20Gln)
c.83T>A (p.Leu28Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1014063T>CCA337803650ISG15c.59T>C (p.Leu20Pro)
c.83T>C (p.Leu28Pro)
gnomAD v4
1g.1014063T>GCA337803652ISG15c.59T>G (p.Leu20Arg)
c.83T>G (p.Leu28Arg)
1g.1014063T=CA1148733986ISG15c.59T= (p.Leu20=)
c.83T= (p.Leu28=)
1g.1014064G>ACA16725177ISG15c.60G>A (p.Leu20=)
c.84G>A (p.Leu28=)
dbSNP COSMIC
1g.1014064G>CCA415756196ISG15c.60G>C (p.Leu20=)
c.84G>C (p.Leu28=)
1g.1014064G=CA1147851179ISG15c.60G= (p.Leu20=)
c.84G= (p.Leu28=)
1g.1014064G>TCA415756198ISG15c.60G>T (p.Leu20=)
c.84G>T (p.Leu28=)
1g.1014065A>CCA337803658ISG15c.61A>C (p.Lys21Gln)
c.85A>C (p.Lys29Gln)
1g.1014065A>GCA337803659ISG15c.61A>G (p.Lys21Glu)
c.85A>G (p.Lys29Glu)
1g.1014065A>TCA337803661ISG15c.61A>T (p.Lys21Ter)
c.85A>T (p.Lys29Ter)
1g.1014066A=CA1148733989ISG15c.62A= (p.Lys21=)
c.86A= (p.Lys29=)
1g.1014066A>CCA337803663ISG15c.62A>C (p.Lys21Thr)
c.86A>C (p.Lys29Thr)
1g.1014066A>GCA337803665ISG15c.62A>G (p.Lys21Arg)
c.86A>G (p.Lys29Arg)
dbSNP
1g.1014066A>TCA337803667ISG15c.62A>T (p.Lys21Met)
c.86A>T (p.Lys29Met)
1g.1014067G>ACA415756206ISG15c.63G>A (p.Lys21=)
c.87G>A (p.Lys29=)
dbSNP
1g.1014067G>CCA337803668ISG15c.63G>C (p.Lys21Asn)
c.87G>C (p.Lys29Asn)
1g.1014067G=CA1148733992ISG15c.63G= (p.Lys21=)
c.87G= (p.Lys29=)
1g.1014067G>TCA337803669ISG15c.63G>T (p.Lys21Asn)
c.87G>T (p.Lys29Asn)
1g.1014068G>ACA337803670ISG15c.64G>A (p.Ala22Thr)
c.88G>A (p.Ala30Thr)
1g.1014068G>CCA337803671ISG15c.64G>C (p.Ala22Pro)
c.88G>C (p.Ala30Pro)
1g.1014068G>TCA337803672ISG15c.64G>T (p.Ala22Ser)
c.88G>T (p.Ala30Ser)
1g.1014069C>ACA337803677ISG15c.65C>A (p.Ala22Glu)
c.89C>A (p.Ala30Glu)
1g.1014069C=CA1148734000ISG15c.65C= (p.Ala22=)
c.89C= (p.Ala30=)
1g.1014069C>GCA337803675ISG15c.65C>G (p.Ala22Gly)
c.89C>G (p.Ala30Gly)
dbSNP gnomAD v3 gnomAD v4
1g.1014069C>TCA507609ISG15c.65C>T (p.Ala22Val)
c.89C>T (p.Ala30Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014070G>ACA507610ISG15c.66G>A (p.Ala22=)
c.90G>A (p.Ala30=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014070G>CCA415756214ISG15c.66G>C (p.Ala22=)
c.90G>C (p.Ala30=)
1g.1014070G=CA1143565332ISG15c.66G= (p.Ala22=)
c.90G= (p.Ala30=)
1g.1014070G>TCA415756215ISG15c.66G>T (p.Ala22=)
c.90G>T (p.Ala30=)
ClinVar dbSNP
1g.1014071C>ACA337803679ISG15c.67C>A (p.Gln23Lys)
c.91C>A (p.Gln31Lys)
1g.1014071C>GCA337803680ISG15c.67C>G (p.Gln23Glu)
c.91C>G (p.Gln31Glu)
1g.1014071C>TCA337803682ISG15c.67C>T (p.Gln23Ter)
c.91C>T (p.Gln31Ter)
1g.1014072A>CCA337803685ISG15c.68A>C (p.Gln23Pro)
c.92A>C (p.Gln31Pro)
1g.1014072A>GCA337803686ISG15c.68A>G (p.Gln23Arg)
c.92A>G (p.Gln31Arg)
1g.1014072A>TCA337803689ISG15c.68A>T (p.Gln23Leu)
c.92A>T (p.Gln31Leu)
1g.1014073G>ACA415756218ISG15c.69G>A (p.Gln23=)
c.93G>A (p.Gln31=)
1g.1014073G>CCA337803691ISG15c.69G>C (p.Gln23His)
c.93G>C (p.Gln31His)
1g.1014073G=CA1148734010ISG15c.69G= (p.Gln23=)
c.93G= (p.Gln31=)
1g.1014073G>TCA16725201ISG15c.69G>T (p.Gln23His)
c.93G>T (p.Gln31His)
dbSNP gnomAD v2 gnomAD v4
1g.1014074A=CA1148734013ISG15c.70A= (p.Ile24=)
c.94A= (p.Ile32=)
1g.1014074A>CCA337803694ISG15c.70A>C (p.Ile24Leu)
c.94A>C (p.Ile32Leu)
1g.1014074A>GCA337803696ISG15c.70A>G (p.Ile24Val)
c.94A>G (p.Ile32Val)
dbSNP gnomAD v3 gnomAD v4
1g.1014074A>TCA337803697ISG15c.70A>T (p.Ile24Phe)
c.94A>T (p.Ile32Phe)
gnomAD v4
1g.1014075T>ACA337803699ISG15c.71T>A (p.Ile24Asn)
c.95T>A (p.Ile32Asn)
ClinVar dbSNP gnomAD v4
1g.1014075T>CCA337803701ISG15c.71T>C (p.Ile24Thr)
c.95T>C (p.Ile32Thr)
1g.1014075T>GCA337803702ISG15c.71T>G (p.Ile24Ser)
c.95T>G (p.Ile32Ser)
1g.1014076C>ACA415756228ISG15c.72C>A (p.Ile24=)
c.96C>A (p.Ile32=)
1g.1014076C>GCA337803706ISG15c.72C>G (p.Ile24Met)
c.96C>G (p.Ile32Met)
1g.1014076C>TCA415756229ISG15c.72C>T (p.Ile24=)
c.96C>T (p.Ile32=)
gnomAD v4
1g.1014077A>CCA337803708ISG15c.73A>C (p.Thr25Pro)
c.97A>C (p.Thr33Pro)
1g.1014077A>GCA337803709ISG15c.73A>G (p.Thr25Ala)
c.97A>G (p.Thr33Ala)
1g.1014077A>TCA337803710ISG15c.73A>T (p.Thr25Ser)
c.97A>T (p.Thr33Ser)
1g.1014078C>ACA337803711ISG15c.74C>A (p.Thr25Asn)
c.98C>A (p.Thr33Asn)
1g.1014078C=CA1148734016ISG15c.74C= (p.Thr25=)
c.98C= (p.Thr33=)
1g.1014078C>GCA337803712ISG15c.74C>G (p.Thr25Ser)
c.98C>G (p.Thr33Ser)
1g.1014078C>TCA337803714ISG15c.74C>T (p.Thr25Ile)
c.98C>T (p.Thr33Ile)
dbSNP gnomAD v4
1g.1014079C>ACA415756237ISG15c.75C>A (p.Thr25=)
c.99C>A (p.Thr33=)
1g.1014079C>GCA415756239ISG15c.75C>G (p.Thr25=)
c.99C>G (p.Thr33=)
1g.1014079C>TCA415756241ISG15c.75C>T (p.Thr25=)
c.99C>T (p.Thr33=)
1g.1014080C>ACA337803716ISG15c.76C>A (p.Gln26Lys)
c.100C>A (p.Gln34Lys)
1g.1014080C=CA1143872614ISG15c.76C= (p.Gln26=)
c.100C= (p.Gln34=)
1g.1014080C>GCA507611ISG15c.76C>G (p.Gln26Glu)
c.100C>G (p.Gln34Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014080C>TCA337803719ISG15c.76C>T (p.Gln26Ter)
c.100C>T (p.Gln34Ter)
1g.1014081A=CA1144065295ISG15c.77A= (p.Gln26=)
c.101A= (p.Gln34=)
1g.1014081A>CCA337803721ISG15c.77A>C (p.Gln26Pro)
c.101A>C (p.Gln34Pro)
1g.1014081A>GCA507612ISG15c.77A>G (p.Gln26Arg)
c.101A>G (p.Gln34Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014081A>TCA337803724ISG15c.77A>T (p.Gln26Leu)
c.101A>T (p.Gln34Leu)
1g.1014084_1014086delCA2642487408ISG15c.80_82del (p.Lys27del)
c.104_106del (p.Lys35del)
gnomAD v4
1g.1014082G>ACA415756248ISG15c.78G>A (p.Gln26=)
c.102G>A (p.Gln34=)
1g.1014082G>CCA507613ISG15c.78G>C (p.Gln26His)
c.102G>C (p.Gln34His)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014082G=CA1148734082ISG15c.78G= (p.Gln26=)
c.102G= (p.Gln34=)
1g.1014082G>TCA337803727ISG15c.78G>T (p.Gln26His)
c.102G>T (p.Gln34His)
1g.1014083A>CCA337803730ISG15c.79A>C (p.Lys27Gln)
c.103A>C (p.Lys35Gln)
1g.1014083A>GCA337803732ISG15c.79A>G (p.Lys27Glu)
c.103A>G (p.Lys35Glu)
1g.1014083A>TCA337803729ISG15c.79A>T (p.Lys27Ter)
c.103A>T (p.Lys35Ter)
1g.1014084A>CCA337803734ISG15c.80A>C (p.Lys27Thr)
c.104A>C (p.Lys35Thr)
1g.1014084A>GCA337803736ISG15c.80A>G (p.Lys27Arg)
c.104A>G (p.Lys35Arg)
1g.1014084A>TCA337803739ISG15c.80A>T (p.Lys27Met)
c.104A>T (p.Lys35Met)
1g.1014085G>ACA415756256ISG15c.81G>A (p.Lys27=)
c.105G>A (p.Lys35=)
dbSNP
1g.1014085G>CCA337803744ISG15c.81G>C (p.Lys27Asn)
c.105G>C (p.Lys35Asn)
1g.1014085G=CA1148734088ISG15c.81G= (p.Lys27=)
c.105G= (p.Lys35=)
1g.1014085G>TCA507614ISG15c.81G>T (p.Lys27Asn)
c.105G>T (p.Lys35Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014086A>CCA337803748ISG15c.82A>C (p.Ile28Leu)
c.106A>C (p.Ile36Leu)
1g.1014086A>GCA337803746ISG15c.82A>G (p.Ile28Val)
c.106A>G (p.Ile36Val)
1g.1014086A>TCA337803745ISG15c.82A>T (p.Ile28Phe)
c.106A>T (p.Ile36Phe)
1g.1014087T>ACA337803750ISG15c.83T>A (p.Ile28Asn)
c.107T>A (p.Ile36Asn)
1g.1014087T>CCA337803751ISG15c.83T>C (p.Ile28Thr)
c.107T>C (p.Ile36Thr)
1g.1014087T>GCA337803753ISG15c.83T>G (p.Ile28Ser)
c.107T>G (p.Ile36Ser)
1g.1014088C>ACA507616ISG15c.84C>A (p.Ile28=)
c.108C>A (p.Ile36=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014088C=CA1139851655ISG15c.84C= (p.Ile28=)
c.108C= (p.Ile36=)
1g.1014088C>GCA507617ISG15c.84C>G (p.Ile28Met)
c.108C>G (p.Ile36Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014088C>TCA507615ISG15c.84C>T (p.Ile28=)
c.108C>T (p.Ile36=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014089G>ACA507618ISG15c.85G>A (p.Gly29Ser)
c.109G>A (p.Gly37Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1014089G>CCA337803761ISG15c.85G>C (p.Gly29Arg)
c.109G>C (p.Gly37Arg)
1g.1014089G=CA1148734108ISG15c.85G= (p.Gly29=)
c.109G= (p.Gly37=)
1g.1014089G>TCA337803771ISG15c.85G>T (p.Gly29Cys)
c.109G>T (p.Gly37Cys)
gnomAD v4
1g.1014090G>ACA337803775ISG15c.86G>A (p.Gly29Asp)
c.110G>A (p.Gly37Asp)
1g.1014090G>CCA337803777ISG15c.86G>C (p.Gly29Ala)
c.110G>C (p.Gly37Ala)
1g.1014090G>TCA337803781ISG15c.86G>T (p.Gly29Val)
c.110G>T (p.Gly37Val)
COSMIC
1g.1014091C>ACA415756263ISG15c.87C>A (p.Gly29=)
c.111C>A (p.Gly37=)
1g.1014091C=CA1148734116ISG15c.87C= (p.Gly29=)
c.111C= (p.Gly37=)
1g.1014091C>GCA415756264ISG15c.87C>G (p.Gly29=)
c.111C>G (p.Gly37=)
1g.1014091C>TCA415756266ISG15c.87C>T (p.Gly29=)
c.111C>T (p.Gly37=)
dbSNP gnomAD v3 gnomAD v4
1g.1014092G>ACA507619ISG15c.88G>A (p.Val30Met)
c.112G>A (p.Val38Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1014092G>CCA337803786ISG15c.88G>C (p.Val30Leu)
c.112G>C (p.Val38Leu)
1g.1014092G=CA1143524328ISG15c.88G= (p.Val30=)
c.112G= (p.Val38=)
1g.1014092G>TCA507620ISG15c.88G>T (p.Val30Leu)
c.112G>T (p.Val38Leu)
dbSNP ExAC gnomAD v2
1g.1014093T>ACA337803791ISG15c.89T>A (p.Val30Glu)
c.113T>A (p.Val38Glu)
1g.1014093T>CCA337803794ISG15c.89T>C (p.Val30Ala)
c.113T>C (p.Val38Ala)
1g.1014093T>GCA337803797ISG15c.89T>G (p.Val30Gly)
c.113T>G (p.Val38Gly)
dbSNP
1g.1014093T=CA1148734126ISG15c.89T= (p.Val30=)
c.113T= (p.Val38=)
1g.1014094G>ACA415756280ISG15c.90G>A (p.Val30=)
c.114G>A (p.Val38=)
gnomAD v4
1g.1014094G>CCA415756281ISG15c.90G>C (p.Val30=)
c.114G>C (p.Val38=)
1g.1014094G>TCA415756284ISG15c.90G>T (p.Val30=)
c.114G>T (p.Val38=)
1g.1014095C>ACA337803800ISG15c.91C>A (p.His31Asn)
c.115C>A (p.His39Asn)
1g.1014095C>GCA337803807ISG15c.91C>G (p.His31Asp)
c.115C>G (p.His39Asp)
1g.1014095C>TCA337803808ISG15c.91C>T (p.His31Tyr)
c.115C>T (p.His39Tyr)
gnomAD v4
1g.1014096A=CA1148734128ISG15c.92A= (p.His31=)
c.116A= (p.His39=)
1g.1014096A>CCA337803809ISG15c.92A>C (p.His31Pro)
c.116A>C (p.His39Pro)
1g.1014096A>GCA337803811ISG15c.92A>G (p.His31Arg)
c.116A>G (p.His39Arg)
dbSNP gnomAD v2 gnomAD v4
1g.1014096A>TCA337803810ISG15c.92A>T (p.His31Leu)
c.116A>T (p.His39Leu)
gnomAD v4
1g.1014097C>ACA337803812ISG15c.93C>A (p.His31Gln)
c.117C>A (p.His39Gln)
gnomAD v4
1g.1014097C=CA1148734137ISG15c.93C= (p.His31=)
c.117C= (p.His39=)
1g.1014097C>GCA337803813ISG15c.93C>G (p.His31Gln)
c.117C>G (p.His39Gln)
1g.1014097C>TCA415756287ISG15c.93C>T (p.His31=)
c.117C>T (p.His39=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1014098G>ACA507621ISG15c.94G>A (p.Ala32Thr)
c.118G>A (p.Ala40Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1014098G>CCA337803815ISG15c.94G>C (p.Ala32Pro)
c.118G>C (p.Ala40Pro)
1g.1014098G=CA1143469465ISG15c.94G= (p.Ala32=)
c.118G= (p.Ala40=)
1g.1014098G>TCA337803817ISG15c.94G>T (p.Ala32Ser)
c.118G>T (p.Ala40Ser)
dbSNP gnomAD v2 gnomAD v4
1g.1014099C>ACA337803819ISG15c.95C>A (p.Ala32Asp)
c.119C>A (p.Ala40Asp)
1g.1014099C=CA1148734191ISG15c.95C= (p.Ala32=)
c.119C= (p.Ala40=)
1g.1014099C>GCA337803821ISG15c.95C>G (p.Ala32Gly)
c.119C>G (p.Ala40Gly)
1g.1014099C>TCA337803823ISG15c.95C>T (p.Ala32Val)
c.119C>T (p.Ala40Val)
dbSNP gnomAD v3 gnomAD v4
1g.1014100C>ACA415756290ISG15c.96C>A (p.Ala32=)
c.120C>A (p.Ala40=)
1g.1014100C>GCA415756293ISG15c.96C>G (p.Ala32=)
c.120C>G (p.Ala40=)
1g.1014100C>TCA415756296ISG15c.96C>T (p.Ala32=)
c.120C>T (p.Ala40=)
1g.1014101T>ACA337803826ISG15c.97T>A (p.Phe33Ile)
c.121T>A (p.Phe41Ile)
1g.1014101T>CCA16725324ISG15c.97T>C (p.Phe33Leu)
c.121T>C (p.Phe41Leu)
dbSNP
1g.1014101T>GCA337803832ISG15c.97T>G (p.Phe33Val)
c.121T>G (p.Phe41Val)
1g.1014101T=CA1148734192ISG15c.97T= (p.Phe33=)
c.121T= (p.Phe41=)
1g.1014102T>ACA337803841ISG15c.98T>A (p.Phe33Tyr)
c.122T>A (p.Phe41Tyr)
dbSNP gnomAD v4
1g.1014102T>CCA337803839ISG15c.98T>C (p.Phe33Ser)
c.122T>C (p.Phe41Ser)
1g.1014102T>GCA337803835ISG15c.98T>G (p.Phe33Cys)
c.122T>G (p.Phe41Cys)
1g.1014102T=CA1148734194ISG15c.98T= (p.Phe33=)
c.122T= (p.Phe41=)
1g.1014103C>ACA337803846ISG15c.99C>A (p.Phe33Leu)
c.123C>A (p.Phe41Leu)
1g.1014103C>GCA337803855ISG15c.99C>G (p.Phe33Leu)
c.123C>G (p.Phe41Leu)
gnomAD v4
1g.1014103C>TCA415756309ISG15c.99C>T (p.Phe33=)
c.123C>T (p.Phe41=)
1g.1014104C>ACA337803860ISG15c.100C>A (p.Gln34Lys)
c.124C>A (p.Gln42Lys)
1g.1014104C>GCA337803861ISG15c.100C>G (p.Gln34Glu)
c.124C>G (p.Gln42Glu)
1g.1014104C>TCA337803863ISG15c.100C>T (p.Gln34Ter)
c.124C>T (p.Gln42Ter)
gnomAD v4
1g.1014105A>CCA337803865ISG15c.101A>C (p.Gln34Pro)
c.125A>C (p.Gln42Pro)
1g.1014105A>GCA337803867ISG15c.101A>G (p.Gln34Arg)
c.125A>G (p.Gln42Arg)
gnomAD v4
1g.1014105A>TCA337803868ISG15c.101A>T (p.Gln34Leu)
c.125A>T (p.Gln42Leu)
1g.1014106G>ACA415756313ISG15c.102G>A (p.Gln34=)
c.126G>A (p.Gln42=)
dbSNP gnomAD v2
1g.1014106G>CCA337803869ISG15c.102G>C (p.Gln34His)
c.126G>C (p.Gln42His)
gnomAD v4
1g.1014106G=CA1148734197ISG15c.102G= (p.Gln34=)
c.126G= (p.Gln42=)
1g.1014106G>TCA337803870ISG15c.102G>T (p.Gln34His)
c.126G>T (p.Gln42His)
1g.1014107C>ACA337803871ISG15c.103C>A (p.Gln35Lys)
c.127C>A (p.Gln43Lys)
1g.1014107C>GCA337803872ISG15c.103C>G (p.Gln35Glu)
c.127C>G (p.Gln43Glu)
1g.1014107C>TCA337803873ISG15c.103C>T (p.Gln35Ter)
c.127C>T (p.Gln43Ter)
1g.1014108A=CA1148734204ISG15c.104A= (p.Gln35=)
c.128A= (p.Gln43=)
1g.1014108A>CCA337803875ISG15c.104A>C (p.Gln35Pro)
c.128A>C (p.Gln43Pro)
1g.1014108A>GCA507622ISG15c.104A>G (p.Gln35Arg)
c.128A>G (p.Gln43Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1014108A>TCA337803874ISG15c.104A>T (p.Gln35Leu)
c.128A>T (p.Gln43Leu)

Number of alleles fetched