Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.183563539T>ACA343704660NCF2,SMG7n.513A>T
n.993A>T
c.1073A>T (p.Tyr358Phe)
c.965A>T (p.Tyr322Phe)
c.938A>T (p.Tyr313Phe)
c.830A>T (p.Tyr277Phe)
c.290A>T (p.Tyr97Phe)
c.26A>T (p.Tyr9Phe)
n.233+12349T>A
n.1135A>T
1g.183563539T>CCA1284686NCF2,SMG7n.513A>G
n.993A>G
c.1073A>G (p.Tyr358Cys)
c.965A>G (p.Tyr322Cys)
c.938A>G (p.Tyr313Cys)
c.830A>G (p.Tyr277Cys)
c.290A>G (p.Tyr97Cys)
c.26A>G (p.Tyr9Cys)
n.233+12349T>C
n.1135A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183563539T>GCA343704661NCF2,SMG7n.513A>C
n.993A>C
c.1073A>C (p.Tyr358Ser)
c.965A>C (p.Tyr322Ser)
c.938A>C (p.Tyr313Ser)
c.830A>C (p.Tyr277Ser)
c.290A>C (p.Tyr97Ser)
c.26A>C (p.Tyr9Ser)
n.233+12349T>G
n.1135A>C
1g.183563539T=CA1211957317NCF2,SMG7n.513A=
n.993A=
c.1073A= (p.Tyr358=)
c.965A= (p.Tyr322=)
c.938A= (p.Tyr313=)
c.830A= (p.Tyr277=)
c.290A= (p.Tyr97=)
c.26A= (p.Tyr9=)
n.233+12349T=
n.1135A=
1g.183563540A>CCA343704662NCF2,SMG7n.512T>G
n.992T>G
c.1072T>G (p.Tyr358Asp)
c.964T>G (p.Tyr322Asp)
c.937T>G (p.Tyr313Asp)
c.829T>G (p.Tyr277Asp)
c.289T>G (p.Tyr97Asp)
c.25T>G (p.Tyr9Asp)
n.233+12350A>C
n.1134T>G
1g.183563540A>GCA343704663NCF2,SMG7n.512T>C
n.992T>C
c.1072T>C (p.Tyr358His)
c.964T>C (p.Tyr322His)
c.937T>C (p.Tyr313His)
c.829T>C (p.Tyr277His)
c.289T>C (p.Tyr97His)
c.25T>C (p.Tyr9His)
n.233+12350A>G
n.1134T>C
1g.183563540A>TCA343704664NCF2,SMG7n.512T>A
n.992T>A
c.1072T>A (p.Tyr358Asn)
c.964T>A (p.Tyr322Asn)
c.937T>A (p.Tyr313Asn)
c.829T>A (p.Tyr277Asn)
c.289T>A (p.Tyr97Asn)
c.25T>A (p.Tyr9Asn)
n.233+12350A>T
n.1134T>A
1g.183563541G>ACA422295453NCF2,SMG7n.511C>T
n.991C>T
c.1071C>T (p.His357=)
c.963C>T (p.His321=)
c.936C>T (p.His312=)
c.828C>T (p.His276=)
c.288C>T (p.His96=)
c.24C>T (p.His8=)
n.233+12351G>A
n.1133C>T
 ClinVar dbSNP gnomAD v4
1g.183563541G>CCA343704665NCF2,SMG7n.511C>G
n.991C>G
c.1071C>G (p.His357Gln)
c.963C>G (p.His321Gln)
c.936C>G (p.His312Gln)
c.828C>G (p.His276Gln)
c.288C>G (p.His96Gln)
c.24C>G (p.His8Gln)
n.233+12351G>C
n.1133C>G
1g.183563541G=CA1211957318NCF2,SMG7n.511C=
n.991C=
c.1071C= (p.His357=)
c.963C= (p.His321=)
c.936C= (p.His312=)
c.828C= (p.His276=)
c.288C= (p.His96=)
c.24C= (p.His8=)
n.233+12351G=
n.1133C=
1g.183563541G>TCA343704666NCF2,SMG7n.511C>A
n.991C>A
c.1071C>A (p.His357Gln)
c.963C>A (p.His321Gln)
c.936C>A (p.His312Gln)
c.828C>A (p.His276Gln)
c.288C>A (p.His96Gln)
c.24C>A (p.His8Gln)
n.233+12351G>T
n.1133C>A
1g.183563542T>ACA343704667NCF2,SMG7n.510A>T
n.990A>T
c.1070A>T (p.His357Leu)
c.962A>T (p.His321Leu)
c.935A>T (p.His312Leu)
c.827A>T (p.His276Leu)
c.287A>T (p.His96Leu)
c.23A>T (p.His8Leu)
n.233+12352T>A
n.1132A>T
1g.183563542T>CCA343704668NCF2,SMG7n.510A>G
n.990A>G
c.1070A>G (p.His357Arg)
c.962A>G (p.His321Arg)
c.935A>G (p.His312Arg)
c.827A>G (p.His276Arg)
c.287A>G (p.His96Arg)
c.23A>G (p.His8Arg)
n.233+12352T>C
n.1132A>G
1g.183563542T>GCA343704669NCF2,SMG7n.510A>C
n.990A>C
c.1070A>C (p.His357Pro)
c.962A>C (p.His321Pro)
c.935A>C (p.His312Pro)
c.827A>C (p.His276Pro)
c.287A>C (p.His96Pro)
c.23A>C (p.His8Pro)
n.233+12352T>G
n.1132A>C
1g.183563543G>ACA1284687NCF2,SMG7n.509C>T
n.989C>T
c.1069C>T (p.His357Tyr)
c.961C>T (p.His321Tyr)
c.934C>T (p.His312Tyr)
c.826C>T (p.His276Tyr)
c.286C>T (p.His96Tyr)
c.22C>T (p.His8Tyr)
n.233+12353G>A
n.1131C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183563543G>CCA343704670NCF2,SMG7n.509C>G
n.989C>G
c.1069C>G (p.His357Asp)
c.961C>G (p.His321Asp)
c.934C>G (p.His312Asp)
c.826C>G (p.His276Asp)
c.286C>G (p.His96Asp)
c.22C>G (p.His8Asp)
n.233+12353G>C
n.1131C>G
1g.183563543G=CA1211957319NCF2,SMG7n.509C=
n.989C=
c.1069C= (p.His357=)
c.961C= (p.His321=)
c.934C= (p.His312=)
c.826C= (p.His276=)
c.286C= (p.His96=)
c.22C= (p.His8=)
n.233+12353G=
n.1131C=
1g.183563543G>TCA343704671NCF2,SMG7n.509C>A
n.989C>A
c.1069C>A (p.His357Asn)
c.961C>A (p.His321Asn)
c.934C>A (p.His312Asn)
c.826C>A (p.His276Asn)
c.286C>A (p.His96Asn)
c.22C>A (p.His8Asn)
n.233+12353G>T
n.1131C>A
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

Number of alleles fetched