Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.183563544C>ACA422295454NCF2,SMG7n.508G>T
n.988G>T
c.1068G>T (p.Val356=)
c.960G>T (p.Val320=)
c.933G>T (p.Val311=)
c.825G>T (p.Val275=)
c.285G>T (p.Val95=)
c.21G>T (p.Val7=)
n.233+12354C>A
n.1130G>T
1g.183563544C=CA1211957320NCF2,SMG7n.508G=
n.988G=
c.1068G= (p.Val356=)
c.960G= (p.Val320=)
c.933G= (p.Val311=)
c.825G= (p.Val275=)
c.285G= (p.Val95=)
c.21G= (p.Val7=)
n.233+12354C=
n.1130G=
1g.183563544C>GCA422295455NCF2,SMG7n.508G>C
n.988G>C
c.1068G>C (p.Val356=)
c.960G>C (p.Val320=)
c.933G>C (p.Val311=)
c.825G>C (p.Val275=)
c.285G>C (p.Val95=)
c.21G>C (p.Val7=)
n.233+12354C>G
n.1130G>C
1g.183563544C>TCA422295456NCF2,SMG7n.508G>A
n.988G>A
c.1068G>A (p.Val356=)
c.960G>A (p.Val320=)
c.933G>A (p.Val311=)
c.825G>A (p.Val275=)
c.285G>A (p.Val95=)
c.21G>A (p.Val7=)
n.233+12354C>T
n.1130G>A
 dbSNP
1g.183563545A>CCA343704674NCF2,SMG7n.507T>G
n.987T>G
c.1067T>G (p.Val356Gly)
c.959T>G (p.Val320Gly)
c.932T>G (p.Val311Gly)
c.824T>G (p.Val275Gly)
c.284T>G (p.Val95Gly)
c.20T>G (p.Val7Gly)
n.233+12355A>C
n.1129T>G
1g.183563545A>GCA343704672NCF2,SMG7n.507T>C
n.987T>C
c.1067T>C (p.Val356Ala)
c.959T>C (p.Val320Ala)
c.932T>C (p.Val311Ala)
c.824T>C (p.Val275Ala)
c.284T>C (p.Val95Ala)
c.20T>C (p.Val7Ala)
n.233+12355A>G
n.1129T>C
1g.183563545A>TCA343704673NCF2,SMG7n.507T>A
n.987T>A
c.1067T>A (p.Val356Glu)
c.959T>A (p.Val320Glu)
c.932T>A (p.Val311Glu)
c.824T>A (p.Val275Glu)
c.284T>A (p.Val95Glu)
c.20T>A (p.Val7Glu)
n.233+12355A>T
n.1129T>A
 COSMIC
1g.183563546C>ACA343704675NCF2,SMG7n.506G>T
n.986G>T
c.1066G>T (p.Val356Leu)
c.958G>T (p.Val320Leu)
c.931G>T (p.Val311Leu)
c.823G>T (p.Val275Leu)
c.283G>T (p.Val95Leu)
c.19G>T (p.Val7Leu)
n.233+12356C>A
n.1128G>T
1g.183563546C>GCA343704676NCF2,SMG7n.506G>C
n.986G>C
c.1066G>C (p.Val356Leu)
c.958G>C (p.Val320Leu)
c.931G>C (p.Val311Leu)
c.823G>C (p.Val275Leu)
c.283G>C (p.Val95Leu)
c.19G>C (p.Val7Leu)
n.233+12356C>G
n.1128G>C
1g.183563546C>TCA343704677NCF2,SMG7n.506G>A
n.986G>A
c.1066G>A (p.Val356Met)
c.958G>A (p.Val320Met)
c.931G>A (p.Val311Met)
c.823G>A (p.Val275Met)
c.283G>A (p.Val95Met)
c.19G>A (p.Val7Met)
n.233+12356C>T
n.1128G>A
1g.183563547C>ACA343704678NCF2,SMG7n.505G>T
n.985G>T
c.1065G>T (p.Lys355Asn)
c.957G>T (p.Lys319Asn)
c.930G>T (p.Lys310Asn)
c.822G>T (p.Lys274Asn)
c.282G>T (p.Lys94Asn)
c.18G>T (p.Lys6Asn)
n.233+12357C>A
n.1127G>T
1g.183563547C=CA1211957321NCF2,SMG7n.505G=
n.985G=
c.1065G= (p.Lys355=)
c.957G= (p.Lys319=)
c.930G= (p.Lys310=)
c.822G= (p.Lys274=)
c.282G= (p.Lys94=)
c.18G= (p.Lys6=)
n.233+12357C=
n.1127G=
1g.183563547C>GCA343704679NCF2,SMG7n.505G>C
n.985G>C
c.1065G>C (p.Lys355Asn)
c.957G>C (p.Lys319Asn)
c.930G>C (p.Lys310Asn)
c.822G>C (p.Lys274Asn)
c.282G>C (p.Lys94Asn)
c.18G>C (p.Lys6Asn)
n.233+12357C>G
n.1127G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.183563547C>TCA422295457NCF2,SMG7n.505G>A
n.985G>A
c.1065G>A (p.Lys355=)
c.957G>A (p.Lys319=)
c.930G>A (p.Lys310=)
c.822G>A (p.Lys274=)
c.282G>A (p.Lys94=)
c.18G>A (p.Lys6=)
n.233+12357C>T
n.1127G>A
 gnomAD v4
1g.183563548T>ACA343704680NCF2,SMG7n.504A>T
n.984A>T
c.1064A>T (p.Lys355Met)
c.956A>T (p.Lys319Met)
c.929A>T (p.Lys310Met)
c.821A>T (p.Lys274Met)
c.281A>T (p.Lys94Met)
c.17A>T (p.Lys6Met)
n.233+12358T>A
n.1126A>T
1g.183563548T>CCA343704682NCF2,SMG7n.504A>G
n.984A>G
c.1064A>G (p.Lys355Arg)
c.956A>G (p.Lys319Arg)
c.929A>G (p.Lys310Arg)
c.821A>G (p.Lys274Arg)
c.281A>G (p.Lys94Arg)
c.17A>G (p.Lys6Arg)
n.233+12358T>C
n.1126A>G
1g.183563548T>GCA343704681NCF2,SMG7n.504A>C
n.984A>C
c.1064A>C (p.Lys355Thr)
c.956A>C (p.Lys319Thr)
c.929A>C (p.Lys310Thr)
c.821A>C (p.Lys274Thr)
c.281A>C (p.Lys94Thr)
c.17A>C (p.Lys6Thr)
n.233+12358T>G
n.1126A>C
 COSMIC
1g.183563549T>ACA343704683NCF2,SMG7n.503A>T
n.983A>T
c.1063A>T (p.Lys355Ter)
c.955A>T (p.Lys319Ter)
c.928A>T (p.Lys310Ter)
c.820A>T (p.Lys274Ter)
c.280A>T (p.Lys94Ter)
c.16A>T (p.Lys6Ter)
n.233+12359T>A
n.1125A>T
1g.183563549T>CCA343704684NCF2,SMG7n.503A>G
n.983A>G
c.1063A>G (p.Lys355Glu)
c.955A>G (p.Lys319Glu)
c.928A>G (p.Lys310Glu)
c.820A>G (p.Lys274Glu)
c.280A>G (p.Lys94Glu)
c.16A>G (p.Lys6Glu)
n.233+12359T>C
n.1125A>G
1g.183563549T>GCA343704685NCF2,SMG7n.503A>C
n.983A>C
c.1063A>C (p.Lys355Gln)
c.955A>C (p.Lys319Gln)
c.928A>C (p.Lys310Gln)
c.820A>C (p.Lys274Gln)
c.280A>C (p.Lys94Gln)
c.16A>C (p.Lys6Gln)
n.233+12359T>G
n.1125A>C
1g.183563555_183563592delCA2746921174NCF2,SMG7n.466_503del
n.947-1_983del
c.1027-1_1063del
c.919-1_955del
c.892-1_928del
c.784-1_820del
c.244-1_280del
c.-21-1_16del
n.233+12365_233+12402del
n.1089-1_1125del
1g.183563550G>ACA422295458NCF2,SMG7n.502C>T
n.982C>T
c.1062C>T (p.Leu354=)
c.954C>T (p.Leu318=)
c.927C>T (p.Leu309=)
c.819C>T (p.Leu273=)
c.279C>T (p.Leu93=)
c.15C>T (p.Leu5=)
n.233+12360G>A
n.1124C>T
 ClinVar dbSNP
1g.183563550G>CCA422295459NCF2,SMG7n.502C>G
n.982C>G
c.1062C>G (p.Leu354=)
c.954C>G (p.Leu318=)
c.927C>G (p.Leu309=)
c.819C>G (p.Leu273=)
c.279C>G (p.Leu93=)
c.15C>G (p.Leu5=)
n.233+12360G>C
n.1124C>G
1g.183563550G>TCA422295460NCF2,SMG7n.502C>A
n.982C>A
c.1062C>A (p.Leu354=)
c.954C>A (p.Leu318=)
c.927C>A (p.Leu309=)
c.819C>A (p.Leu273=)
c.279C>A (p.Leu93=)
c.15C>A (p.Leu5=)
n.233+12360G>T
n.1124C>A
1g.183563551A>CCA343704686NCF2,SMG7n.501T>G
n.981T>G
c.1061T>G (p.Leu354Arg)
c.953T>G (p.Leu318Arg)
c.926T>G (p.Leu309Arg)
c.818T>G (p.Leu273Arg)
c.278T>G (p.Leu93Arg)
c.14T>G (p.Leu5Arg)
n.233+12361A>C
n.1123T>G
1g.183563551A>GCA343704687NCF2,SMG7n.501T>C
n.981T>C
c.1061T>C (p.Leu354Pro)
c.953T>C (p.Leu318Pro)
c.926T>C (p.Leu309Pro)
c.818T>C (p.Leu273Pro)
c.278T>C (p.Leu93Pro)
c.14T>C (p.Leu5Pro)
n.233+12361A>G
n.1123T>C
1g.183563551A>TCA343704688NCF2,SMG7n.501T>A
n.981T>A
c.1061T>A (p.Leu354His)
c.953T>A (p.Leu318His)
c.926T>A (p.Leu309His)
c.818T>A (p.Leu273His)
c.278T>A (p.Leu93His)
c.14T>A (p.Leu5His)
n.233+12361A>T
n.1123T>A
1g.183563552G>ACA343704689NCF2,SMG7n.500C>T
n.980C>T
c.1060C>T (p.Leu354Phe)
c.952C>T (p.Leu318Phe)
c.925C>T (p.Leu309Phe)
c.817C>T (p.Leu273Phe)
c.277C>T (p.Leu93Phe)
c.13C>T (p.Leu5Phe)
n.233+12362G>A
n.1122C>T
1g.183563552G>CCA343704690NCF2,SMG7n.500C>G
n.980C>G
c.1060C>G (p.Leu354Val)
c.952C>G (p.Leu318Val)
c.925C>G (p.Leu309Val)
c.817C>G (p.Leu273Val)
c.277C>G (p.Leu93Val)
c.13C>G (p.Leu5Val)
n.233+12362G>C
n.1122C>G
1g.183563552G>TCA343704691NCF2,SMG7n.500C>A
n.980C>A
c.1060C>A (p.Leu354Ile)
c.952C>A (p.Leu318Ile)
c.925C>A (p.Leu309Ile)
c.817C>A (p.Leu273Ile)
c.277C>A (p.Leu93Ile)
c.13C>A (p.Leu5Ile)
n.233+12362G>T
n.1122C>A
 gnomAD v4
1g.183563553T>ACA422295461NCF2,SMG7n.499A>T
n.979A>T
c.1059A>T (p.Thr353=)
c.951A>T (p.Thr317=)
c.924A>T (p.Thr308=)
c.816A>T (p.Thr272=)
c.276A>T (p.Thr92=)
c.12A>T (p.Thr4=)
n.233+12363T>A
n.1121A>T
1g.183563553T>CCA422295462NCF2,SMG7n.499A>G
n.979A>G
c.1059A>G (p.Thr353=)
c.951A>G (p.Thr317=)
c.924A>G (p.Thr308=)
c.816A>G (p.Thr272=)
c.276A>G (p.Thr92=)
c.12A>G (p.Thr4=)
n.233+12363T>C
n.1121A>G
1g.183563553T>GCA422295463NCF2,SMG7n.499A>C
n.979A>C
c.1059A>C (p.Thr353=)
c.951A>C (p.Thr317=)
c.924A>C (p.Thr308=)
c.816A>C (p.Thr272=)
c.276A>C (p.Thr92=)
c.12A>C (p.Thr4=)
n.233+12363T>G
n.1121A>C
1g.183563554G>ACA343704692NCF2,SMG7n.498C>T
n.978C>T
c.1058C>T (p.Thr353Ile)
c.950C>T (p.Thr317Ile)
c.923C>T (p.Thr308Ile)
c.815C>T (p.Thr272Ile)
c.275C>T (p.Thr92Ile)
c.11C>T (p.Thr4Ile)
n.233+12364G>A
n.1120C>T
1g.183563554G>CCA343704693NCF2,SMG7n.498C>G
n.978C>G
c.1058C>G (p.Thr353Arg)
c.950C>G (p.Thr317Arg)
c.923C>G (p.Thr308Arg)
c.815C>G (p.Thr272Arg)
c.275C>G (p.Thr92Arg)
c.11C>G (p.Thr4Arg)
n.233+12364G>C
n.1120C>G
1g.183563554G>TCA343704694NCF2,SMG7n.498C>A
n.978C>A
c.1058C>A (p.Thr353Lys)
c.950C>A (p.Thr317Lys)
c.923C>A (p.Thr308Lys)
c.815C>A (p.Thr272Lys)
c.275C>A (p.Thr92Lys)
c.11C>A (p.Thr4Lys)
n.233+12364G>T
n.1120C>A
1g.183563555T>ACA343704696NCF2,SMG7n.497A>T
n.977A>T
c.1057A>T (p.Thr353Ser)
c.949A>T (p.Thr317Ser)
c.922A>T (p.Thr308Ser)
c.814A>T (p.Thr272Ser)
c.274A>T (p.Thr92Ser)
c.10A>T (p.Thr4Ser)
n.233+12365T>A
n.1119A>T
1g.183563555T>CCA343704697NCF2,SMG7n.497A>G
n.977A>G
c.1057A>G (p.Thr353Ala)
c.949A>G (p.Thr317Ala)
c.922A>G (p.Thr308Ala)
c.814A>G (p.Thr272Ala)
c.274A>G (p.Thr92Ala)
c.10A>G (p.Thr4Ala)
n.233+12365T>C
n.1119A>G
1g.183563555T>GCA343704695NCF2,SMG7n.497A>C
n.977A>C
c.1057A>C (p.Thr353Pro)
c.949A>C (p.Thr317Pro)
c.922A>C (p.Thr308Pro)
c.814A>C (p.Thr272Pro)
c.274A>C (p.Thr92Pro)
c.10A>C (p.Thr4Pro)
n.233+12365T>G
n.1119A>C
1g.183563556G>ACA422295464NCF2,SMG7n.496C>T
n.976C>T
c.1056C>T (p.Tyr352=)
c.948C>T (p.Tyr316=)
c.921C>T (p.Tyr307=)
c.813C>T (p.Tyr271=)
c.273C>T (p.Tyr91=)
c.9C>T (p.Tyr3=)
n.233+12366G>A
n.1118C>T
 gnomAD v4
1g.183563556G>CCA343704699NCF2,SMG7n.496C>G
n.976C>G
c.1056C>G (p.Tyr352Ter)
c.948C>G (p.Tyr316Ter)
c.921C>G (p.Tyr307Ter)
c.813C>G (p.Tyr271Ter)
c.273C>G (p.Tyr91Ter)
c.9C>G (p.Tyr3Ter)
n.233+12366G>C
n.1118C>G
1g.183563556G>TCA343704698NCF2,SMG7n.496C>A
n.976C>A
c.1056C>A (p.Tyr352Ter)
c.948C>A (p.Tyr316Ter)
c.921C>A (p.Tyr307Ter)
c.813C>A (p.Tyr271Ter)
c.273C>A (p.Tyr91Ter)
c.9C>A (p.Tyr3Ter)
n.233+12366G>T
n.1118C>A
1g.183563557T>ACA343704700NCF2,SMG7n.495A>T
n.975A>T
c.1055A>T (p.Tyr352Phe)
c.947A>T (p.Tyr316Phe)
c.920A>T (p.Tyr307Phe)
c.812A>T (p.Tyr271Phe)
c.272A>T (p.Tyr91Phe)
c.8A>T (p.Tyr3Phe)
n.233+12367T>A
n.1117A>T
1g.183563557T>CCA1284688NCF2,SMG7n.495A>G
n.975A>G
c.1055A>G (p.Tyr352Cys)
c.947A>G (p.Tyr316Cys)
c.920A>G (p.Tyr307Cys)
c.812A>G (p.Tyr271Cys)
c.272A>G (p.Tyr91Cys)
c.8A>G (p.Tyr3Cys)
n.233+12367T>C
n.1117A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183563557T>GCA343704701NCF2,SMG7n.495A>C
n.975A>C
c.1055A>C (p.Tyr352Ser)
c.947A>C (p.Tyr316Ser)
c.920A>C (p.Tyr307Ser)
c.812A>C (p.Tyr271Ser)
c.272A>C (p.Tyr91Ser)
c.8A>C (p.Tyr3Ser)
n.233+12367T>G
n.1117A>C
1g.183563557T=CA1148886979NCF2,SMG7n.495A=
n.975A=
c.1055A= (p.Tyr352=)
c.947A= (p.Tyr316=)
c.920A= (p.Tyr307=)
c.812A= (p.Tyr271=)
c.272A= (p.Tyr91=)
c.8A= (p.Tyr3=)
n.233+12367T=
n.1117A=
1g.183563557dupCA2573968237NCF2,SMG7n.495dup
n.975dup
c.1055dup (p.Tyr352Ter)
c.947dup (p.Tyr316Ter)
c.920dup (p.Tyr307Ter)
c.812dup (p.Tyr271Ter)
c.272dup (p.Tyr91Ter)
c.8dup (p.Tyr3Ter)
n.233+12367dup
n.1117dup
1g.183563558A>CCA343704702NCF2,SMG7n.494T>G
n.974T>G
c.1054T>G (p.Tyr352Asp)
c.946T>G (p.Tyr316Asp)
c.919T>G (p.Tyr307Asp)
c.811T>G (p.Tyr271Asp)
c.271T>G (p.Tyr91Asp)
c.7T>G (p.Tyr3Asp)
n.233+12368A>C
n.1116T>G
1g.183563558A>GCA343704703NCF2,SMG7n.494T>C
n.974T>C
c.1054T>C (p.Tyr352His)
c.946T>C (p.Tyr316His)
c.919T>C (p.Tyr307His)
c.811T>C (p.Tyr271His)
c.271T>C (p.Tyr91His)
c.7T>C (p.Tyr3His)
n.233+12368A>G
n.1116T>C
1g.183563558A>TCA343704704NCF2,SMG7n.494T>A
n.974T>A
c.1054T>A (p.Tyr352Asn)
c.946T>A (p.Tyr316Asn)
c.919T>A (p.Tyr307Asn)
c.811T>A (p.Tyr271Asn)
c.271T>A (p.Tyr91Asn)
c.7T>A (p.Tyr3Asn)
n.233+12368A>T
n.1116T>A

Number of alleles fetched