| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.183563531T>A | CA1284684 | NCF2,SMG7 | n.521A>T n.1001A>T c.1081A>T (p.Thr361Ser) c.973A>T (p.Thr325Ser) c.946A>T (p.Thr316Ser) c.838A>T (p.Thr280Ser) c.298A>T (p.Thr100Ser) c.34A>T (p.Thr12Ser) n.233+12341T>A n.1143A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183563531T>C | CA343704640 | NCF2,SMG7 | n.521A>G n.1001A>G c.1081A>G (p.Thr361Ala) c.973A>G (p.Thr325Ala) c.946A>G (p.Thr316Ala) c.838A>G (p.Thr280Ala) c.298A>G (p.Thr100Ala) c.34A>G (p.Thr12Ala) n.233+12341T>C n.1143A>G | |
| 1 | g.183563531T>G | CA343704641 | NCF2,SMG7 | n.521A>C n.1001A>C c.1081A>C (p.Thr361Pro) c.973A>C (p.Thr325Pro) c.946A>C (p.Thr316Pro) c.838A>C (p.Thr280Pro) c.298A>C (p.Thr100Pro) c.34A>C (p.Thr12Pro) n.233+12341T>G n.1143A>C | |
| 1 | g.183563531T= | CA1142197832 | NCF2,SMG7 | n.521A= n.1001A= c.1081A= (p.Thr361=) c.973A= (p.Thr325=) c.946A= (p.Thr316=) c.838A= (p.Thr280=) c.298A= (p.Thr100=) c.34A= (p.Thr12=) n.233+12341T= n.1143A= | |
| 1 | g.183563532G>A | CA422295451 | NCF2,SMG7 | n.520C>T n.1000C>T c.1080C>T (p.Tyr360=) c.972C>T (p.Tyr324=) c.945C>T (p.Tyr315=) c.837C>T (p.Tyr279=) c.297C>T (p.Tyr99=) c.33C>T (p.Tyr11=) n.233+12342G>A n.1142C>T | |
| 1 | g.183563532G>C | CA343704642 | NCF2,SMG7 | n.520C>G n.1000C>G c.1080C>G (p.Tyr360Ter) c.972C>G (p.Tyr324Ter) c.945C>G (p.Tyr315Ter) c.837C>G (p.Tyr279Ter) c.297C>G (p.Tyr99Ter) c.33C>G (p.Tyr11Ter) n.233+12342G>C n.1142C>G | |
| 1 | g.183563532G>T | CA343704643 | NCF2,SMG7 | n.520C>A n.1000C>A c.1080C>A (p.Tyr360Ter) c.972C>A (p.Tyr324Ter) c.945C>A (p.Tyr315Ter) c.837C>A (p.Tyr279Ter) c.297C>A (p.Tyr99Ter) c.33C>A (p.Tyr11Ter) n.233+12342G>T n.1142C>A | |
| 1 | g.183563533T>A | CA343704644 | NCF2,SMG7 | n.519A>T n.999A>T c.1079A>T (p.Tyr360Phe) c.971A>T (p.Tyr324Phe) c.944A>T (p.Tyr315Phe) c.836A>T (p.Tyr279Phe) c.296A>T (p.Tyr99Phe) c.32A>T (p.Tyr11Phe) n.233+12343T>A n.1141A>T | |
| 1 | g.183563533T>C | CA343704645 | NCF2,SMG7 | n.519A>G n.999A>G c.1079A>G (p.Tyr360Cys) c.971A>G (p.Tyr324Cys) c.944A>G (p.Tyr315Cys) c.836A>G (p.Tyr279Cys) c.296A>G (p.Tyr99Cys) c.32A>G (p.Tyr11Cys) n.233+12343T>C n.1141A>G | dbSNP |
| 1 | g.183563533T>G | CA343704646 | NCF2,SMG7 | n.519A>C n.999A>C c.1079A>C (p.Tyr360Ser) c.971A>C (p.Tyr324Ser) c.944A>C (p.Tyr315Ser) c.836A>C (p.Tyr279Ser) c.296A>C (p.Tyr99Ser) c.32A>C (p.Tyr11Ser) n.233+12343T>G n.1141A>C | |
| 1 | g.183563533T= | CA1211957316 | NCF2,SMG7 | n.519A= n.999A= c.1079A= (p.Tyr360=) c.971A= (p.Tyr324=) c.944A= (p.Tyr315=) c.836A= (p.Tyr279=) c.296A= (p.Tyr99=) c.32A= (p.Tyr11=) n.233+12343T= n.1141A= | |
| 1 | g.183563534A>C | CA343704647 | NCF2,SMG7 | n.518T>G n.998T>G c.1078T>G (p.Tyr360Asp) c.970T>G (p.Tyr324Asp) c.943T>G (p.Tyr315Asp) c.835T>G (p.Tyr279Asp) c.295T>G (p.Tyr99Asp) c.31T>G (p.Tyr11Asp) n.233+12344A>C n.1140T>G | |
| 1 | g.183563534A>G | CA343704648 | NCF2,SMG7 | n.518T>C n.998T>C c.1078T>C (p.Tyr360His) c.970T>C (p.Tyr324His) c.943T>C (p.Tyr315His) c.835T>C (p.Tyr279His) c.295T>C (p.Tyr99His) c.31T>C (p.Tyr11His) n.233+12344A>G n.1140T>C | gnomAD v4 |
| 1 | g.183563534A>T | CA343704649 | NCF2,SMG7 | n.518T>A n.998T>A c.1078T>A (p.Tyr360Asn) c.970T>A (p.Tyr324Asn) c.943T>A (p.Tyr315Asn) c.835T>A (p.Tyr279Asn) c.295T>A (p.Tyr99Asn) c.31T>A (p.Tyr11Asn) n.233+12344A>T n.1140T>A | |
| 1 | g.183563535C>A | CA343704650 | NCF2,SMG7 | n.517G>T n.997G>T c.1077G>T (p.Lys359Asn) c.969G>T (p.Lys323Asn) c.942G>T (p.Lys314Asn) c.834G>T (p.Lys278Asn) c.294G>T (p.Lys98Asn) c.30G>T (p.Lys10Asn) n.233+12345C>A n.1139G>T | |
| 1 | g.183563535C>G | CA343704651 | NCF2,SMG7 | n.517G>C n.997G>C c.1077G>C (p.Lys359Asn) c.969G>C (p.Lys323Asn) c.942G>C (p.Lys314Asn) c.834G>C (p.Lys278Asn) c.294G>C (p.Lys98Asn) c.30G>C (p.Lys10Asn) n.233+12345C>G n.1139G>C | |
| 1 | g.183563535C>T | CA422295452 | NCF2,SMG7 | n.517G>A n.997G>A c.1077G>A (p.Lys359=) c.969G>A (p.Lys323=) c.942G>A (p.Lys314=) c.834G>A (p.Lys278=) c.294G>A (p.Lys98=) c.30G>A (p.Lys10=) n.233+12345C>T n.1139G>A | ClinVar dbSNP |
| 1 | g.183563536T>A | CA343704654 | NCF2,SMG7 | n.516A>T n.996A>T c.1076A>T (p.Lys359Met) c.968A>T (p.Lys323Met) c.941A>T (p.Lys314Met) c.833A>T (p.Lys278Met) c.293A>T (p.Lys98Met) c.29A>T (p.Lys10Met) n.233+12346T>A n.1138A>T | |
| 1 | g.183563536T>C | CA343704652 | NCF2,SMG7 | n.516A>G n.996A>G c.1076A>G (p.Lys359Arg) c.968A>G (p.Lys323Arg) c.941A>G (p.Lys314Arg) c.833A>G (p.Lys278Arg) c.293A>G (p.Lys98Arg) c.29A>G (p.Lys10Arg) n.233+12346T>C n.1138A>G | |
| 1 | g.183563536T>G | CA343704653 | NCF2,SMG7 | n.516A>C n.996A>C c.1076A>C (p.Lys359Thr) c.968A>C (p.Lys323Thr) c.941A>C (p.Lys314Thr) c.833A>C (p.Lys278Thr) c.293A>C (p.Lys98Thr) c.29A>C (p.Lys10Thr) n.233+12346T>G n.1138A>C | |
| 1 | g.183563537T>A | CA343704655 | NCF2,SMG7 | n.515A>T n.995A>T c.1075A>T (p.Lys359Ter) c.967A>T (p.Lys323Ter) c.940A>T (p.Lys314Ter) c.832A>T (p.Lys278Ter) c.292A>T (p.Lys98Ter) c.28A>T (p.Lys10Ter) n.233+12347T>A n.1137A>T | COSMIC |
| 1 | g.183563537T>C | CA343704656 | NCF2,SMG7 | n.515A>G n.995A>G c.1075A>G (p.Lys359Glu) c.967A>G (p.Lys323Glu) c.940A>G (p.Lys314Glu) c.832A>G (p.Lys278Glu) c.292A>G (p.Lys98Glu) c.28A>G (p.Lys10Glu) n.233+12347T>C n.1137A>G | |
| 1 | g.183563537T>G | CA343704657 | NCF2,SMG7 | n.515A>C n.995A>C c.1075A>C (p.Lys359Gln) c.967A>C (p.Lys323Gln) c.940A>C (p.Lys314Gln) c.832A>C (p.Lys278Gln) c.292A>C (p.Lys98Gln) c.28A>C (p.Lys10Gln) n.233+12347T>G n.1137A>C | |
| 1 | g.183563538G>A | CA1284685 | NCF2,SMG7 | n.514C>T n.994C>T c.1074C>T (p.Tyr358=) c.966C>T (p.Tyr322=) c.939C>T (p.Tyr313=) c.831C>T (p.Tyr277=) c.291C>T (p.Tyr97=) c.27C>T (p.Tyr9=) n.233+12348G>A n.1136C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183563538G>C | CA343704658 | NCF2,SMG7 | n.514C>G n.994C>G c.1074C>G (p.Tyr358Ter) c.966C>G (p.Tyr322Ter) c.939C>G (p.Tyr313Ter) c.831C>G (p.Tyr277Ter) c.291C>G (p.Tyr97Ter) c.27C>G (p.Tyr9Ter) n.233+12348G>C n.1136C>G | |
| 1 | g.183563538G= | CA1145692586 | NCF2,SMG7 | n.514C= n.994C= c.1074C= (p.Tyr358=) c.966C= (p.Tyr322=) c.939C= (p.Tyr313=) c.831C= (p.Tyr277=) c.291C= (p.Tyr97=) c.27C= (p.Tyr9=) n.233+12348G= n.1136C= | |
| 1 | g.183563538G>T | CA343704659 | NCF2,SMG7 | n.514C>A n.994C>A c.1074C>A (p.Tyr358Ter) c.966C>A (p.Tyr322Ter) c.939C>A (p.Tyr313Ter) c.831C>A (p.Tyr277Ter) c.291C>A (p.Tyr97Ter) c.27C>A (p.Tyr9Ter) n.233+12348G>T n.1136C>A | gnomAD v4 |
| 1 | g.183563539T>A | CA343704660 | NCF2,SMG7 | n.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 | |
| 1 | g.183563539T>C | CA1284686 | NCF2,SMG7 | n.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 |
| 1 | g.183563539T>G | CA343704661 | NCF2,SMG7 | n.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 | |
| 1 | g.183563539T= | CA1211957317 | NCF2,SMG7 | n.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= | |
| 1 | g.183563540A>C | CA343704662 | NCF2,SMG7 | n.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 | |
| 1 | g.183563540A>G | CA343704663 | NCF2,SMG7 | n.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 | |
| 1 | g.183563540A>T | CA343704664 | NCF2,SMG7 | n.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 | |
| 1 | g.183563541G>A | CA422295453 | NCF2,SMG7 | n.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 |
| 1 | g.183563541G>C | CA343704665 | NCF2,SMG7 | n.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 | |
| 1 | g.183563541G= | CA1211957318 | NCF2,SMG7 | n.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= | |
| 1 | g.183563541G>T | CA343704666 | NCF2,SMG7 | n.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 | |
| 1 | g.183563542T>A | CA343704667 | NCF2,SMG7 | n.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 | |
| 1 | g.183563542T>C | CA343704668 | NCF2,SMG7 | n.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 | |
| 1 | g.183563542T>G | CA343704669 | NCF2,SMG7 | n.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 | |
| 1 | g.183563543G>A | CA1284687 | NCF2,SMG7 | n.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 |
| 1 | g.183563543G>C | CA343704670 | NCF2,SMG7 | n.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 | |
| 1 | g.183563543G= | CA1211957319 | NCF2,SMG7 | n.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= | |
| 1 | g.183563543G>T | CA343704671 | NCF2,SMG7 | n.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 | |
| 1 | g.183563544C>A | CA422295454 | NCF2,SMG7 | n.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 | |
| 1 | g.183563544C= | CA1211957320 | NCF2,SMG7 | n.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= | |
| 1 | g.183563544C>G | CA422295455 | NCF2,SMG7 | n.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 | |
| 1 | g.183563544C>T | CA422295456 | NCF2,SMG7 | n.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 |
| 1 | g.183563545A>C | CA343704674 | NCF2,SMG7 | n.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 |