Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.24706192G>A | CA367046849 | GSDME | c.1175C>T (p.Ala392Val) c.683C>T (p.Ala228Val) c.35C>T (p.Ala12Val) | dbSNP gnomAD v4 |
7 | g.24706192G>C | CA367046850 | GSDME | c.1175C>G (p.Ala392Gly) c.683C>G (p.Ala228Gly) c.35C>G (p.Ala12Gly) | |
7 | g.24706192G= | CA1695103440 | GSDME | c.1175C= (p.Ala392=) c.683C= (p.Ala228=) c.35C= (p.Ala12=) | |
7 | g.24706192G>T | CA367046851 | GSDME | c.1175C>A (p.Ala392Asp) c.683C>A (p.Ala228Asp) c.35C>A (p.Ala12Asp) | |
7 | g.24706193C>A | CA367046852 | GSDME | c.1174G>T (p.Ala392Ser) c.682G>T (p.Ala228Ser) c.34G>T (p.Ala12Ser) | |
7 | g.24706193C= | CA1695103446 | GSDME | c.1174G= (p.Ala392=) c.682G= (p.Ala228=) c.34G= (p.Ala12=) | |
7 | g.24706193C>G | CA367046853 | GSDME | c.1174G>C (p.Ala392Pro) c.682G>C (p.Ala228Pro) c.34G>C (p.Ala12Pro) | |
7 | g.24706193C>T | CA367046854 | GSDME | c.1174G>A (p.Ala392Thr) c.682G>A (p.Ala228Thr) c.34G>A (p.Ala12Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.24706193_24706194insG | CA4191392 | GSDME | c.1173_1174insC (p.Ala392ArgfsTer8) c.681_682insC (p.Ala228ArgfsTer8) c.33_34insC (p.Ala12ArgfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706194A>C | CA367046855 | GSDME | c.1173T>G (p.Ser391Arg) c.681T>G (p.Ser227Arg) c.33T>G (p.Ser11Arg) | |
7 | g.24706194A>G | CA454019381 | GSDME | c.1173T>C (p.Ser391=) c.681T>C (p.Ser227=) c.33T>C (p.Ser11=) | |
7 | g.24706194A>T | CA367046856 | GSDME | c.1173T>A (p.Ser391Arg) c.681T>A (p.Ser227Arg) c.33T>A (p.Ser11Arg) | |
7 | g.24706195C>A | CA367046857 | GSDME | c.1172G>T (p.Ser391Ile) c.680G>T (p.Ser227Ile) c.32G>T (p.Ser11Ile) | |
7 | g.24706195C>G | CA367046858 | GSDME | c.1172G>C (p.Ser391Thr) c.680G>C (p.Ser227Thr) c.32G>C (p.Ser11Thr) | |
7 | g.24706195C>T | CA367046859 | GSDME | c.1172G>A (p.Ser391Asn) c.680G>A (p.Ser227Asn) c.32G>A (p.Ser11Asn) | |
7 | g.24706196T>A | CA367046862 | GSDME | c.1171A>T (p.Ser391Cys) c.679A>T (p.Ser227Cys) c.31A>T (p.Ser11Cys) | |
7 | g.24706196T>C | CA367046860 | GSDME | c.1171A>G (p.Ser391Gly) c.679A>G (p.Ser227Gly) c.31A>G (p.Ser11Gly) | gnomAD v4 |
7 | g.24706196T>G | CA367046861 | GSDME | c.1171A>C (p.Ser391Arg) c.679A>C (p.Ser227Arg) c.31A>C (p.Ser11Arg) | |
7 | g.24706197G>A | CA454019382 | GSDME | c.1170C>T (p.Val390=) c.678C>T (p.Val226=) c.30C>T (p.Val10=) | |
7 | g.24706197G>C | CA454019383 | GSDME | c.1170C>G (p.Val390=) c.678C>G (p.Val226=) c.30C>G (p.Val10=) | |
7 | g.24706197G>T | CA454019384 | GSDME | c.1170C>A (p.Val390=) c.678C>A (p.Val226=) c.30C>A (p.Val10=) | |
7 | g.24706198A= | CA1695103455 | GSDME | c.1169T= (p.Val390=) c.677T= (p.Val226=) c.29T= (p.Val10=) | |
7 | g.24706198A>C | CA367046863 | GSDME | c.1169T>G (p.Val390Gly) c.677T>G (p.Val226Gly) c.29T>G (p.Val10Gly) | dbSNP |
7 | g.24706198A>G | CA367046864 | GSDME | c.1169T>C (p.Val390Ala) c.677T>C (p.Val226Ala) c.29T>C (p.Val10Ala) | |
7 | g.24706198A>T | CA367046865 | GSDME | c.1169T>A (p.Val390Asp) c.677T>A (p.Val226Asp) c.29T>A (p.Val10Asp) | COSMIC |
7 | g.24706199C>A | CA367046866 | GSDME | c.1168G>T (p.Val390Phe) c.676G>T (p.Val226Phe) c.28G>T (p.Val10Phe) | |
7 | g.24706199C>G | CA367046867 | GSDME | c.1168G>C (p.Val390Leu) c.676G>C (p.Val226Leu) c.28G>C (p.Val10Leu) | |
7 | g.24706199C>T | CA367046868 | GSDME | c.1168G>A (p.Val390Ile) c.676G>A (p.Val226Ile) c.28G>A (p.Val10Ile) | |
7 | g.24706200C>A | CA367046869 | GSDME | c.1167G>T (p.Leu389Phe) c.675G>T (p.Leu225Phe) c.27G>T (p.Leu9Phe) | gnomAD v4 |
7 | g.24706200C>G | CA367046870 | GSDME | c.1167G>C (p.Leu389Phe) c.675G>C (p.Leu225Phe) c.27G>C (p.Leu9Phe) | gnomAD v4 |
7 | g.24706200C>T | CA454019385 | GSDME | c.1167G>A (p.Leu389=) c.675G>A (p.Leu225=) c.27G>A (p.Leu9=) | |
7 | g.24706200_24706203delinsCAAG | CA1695103457 | GSDME | c.1164_1167delinsCTTG (p.Phe388=) c.672_675delinsCTTG (p.Phe224=) c.24_27delinsCTTG (p.Phe8=) | |
7 | g.24706201A>C | CA367046871 | GSDME | c.1166T>G (p.Leu389Trp) c.674T>G (p.Leu225Trp) c.26T>G (p.Leu9Trp) | |
7 | g.24706201A>G | CA367046872 | GSDME | c.1166T>C (p.Leu389Ser) c.674T>C (p.Leu225Ser) c.26T>C (p.Leu9Ser) | |
7 | g.24706201A>T | CA367046873 | GSDME | c.1166T>A (p.Leu389Ter) c.674T>A (p.Leu225Ter) c.26T>A (p.Leu9Ter) | |
7 | g.24706204_24706206del | CA1695103460 | GSDME | c.1164_1166del (p.Phe388del) c.672_674del (p.Phe224del) c.24_26del (p.Phe8del) | dbSNP |
7 | g.24706202A>C | CA367046874 | GSDME | c.1165T>G (p.Leu389Val) c.673T>G (p.Leu225Val) c.25T>G (p.Leu9Val) | |
7 | g.24706202A>G | CA454019386 | GSDME | c.1165T>C (p.Leu389=) c.673T>C (p.Leu225=) c.25T>C (p.Leu9=) | gnomAD v4 |
7 | g.24706202A>T | CA367046875 | GSDME | c.1165T>A (p.Leu389Met) c.673T>A (p.Leu225Met) c.25T>A (p.Leu9Met) | |
7 | g.24706203G>A | CA454019387 | GSDME | c.1164C>T (p.Phe388=) c.672C>T (p.Phe224=) c.24C>T (p.Phe8=) | ClinVar |
7 | g.24706203G>C | CA367046876 | GSDME | c.1164C>G (p.Phe388Leu) c.672C>G (p.Phe224Leu) c.24C>G (p.Phe8Leu) | |
7 | g.24706203G>T | CA367046877 | GSDME | c.1164C>A (p.Phe388Leu) c.672C>A (p.Phe224Leu) c.24C>A (p.Phe8Leu) | |
7 | g.24706204A= | CA1695103464 | GSDME | c.1163T= (p.Phe388=) c.671T= (p.Phe224=) c.23T= (p.Phe8=) | |
7 | g.24706204A>C | CA367046878 | GSDME | c.1163T>G (p.Phe388Cys) c.671T>G (p.Phe224Cys) c.23T>G (p.Phe8Cys) | dbSNP gnomAD v4 |
7 | g.24706204A>G | CA367046879 | GSDME | c.1163T>C (p.Phe388Ser) c.671T>C (p.Phe224Ser) c.23T>C (p.Phe8Ser) | |
7 | g.24706204A>T | CA367046880 | GSDME | c.1163T>A (p.Phe388Tyr) c.671T>A (p.Phe224Tyr) c.23T>A (p.Phe8Tyr) | |
7 | g.24706204_24706207delinsAAGT | CA1695103466 | GSDME | c.1160_1163delinsACTT (p.Tyr387=) c.668_671delinsACTT (p.Tyr223=) c.20_23delinsACTT (p.Tyr7=) | |
7 | g.24706205A= | CA1695103471 | GSDME | c.1162T= (p.Phe388=) c.670T= (p.Phe224=) c.22T= (p.Phe8=) | |
7 | g.24706205A>C | CA367046881 | GSDME | c.1162T>G (p.Phe388Val) c.670T>G (p.Phe224Val) c.22T>G (p.Phe8Val) | |
7 | g.24706205A>G | CA4191393 | GSDME | c.1162T>C (p.Phe388Leu) c.670T>C (p.Phe224Leu) c.22T>C (p.Phe8Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706205A>T | CA367046882 | GSDME | c.1162T>A (p.Phe388Ile) c.670T>A (p.Phe224Ile) c.22T>A (p.Phe8Ile) | |
7 | g.24706207_24706209del | CA1695103469 | GSDME | c.1160_1162del (p.Tyr387del) c.668_670del (p.Tyr223del) c.20_22del (p.Tyr7del) | dbSNP |
7 | g.24706206G>A | CA454019389 | GSDME | c.1161C>T (p.Tyr387=) c.669C>T (p.Tyr223=) c.21C>T (p.Tyr7=) | |
7 | g.24706206G>C | CA367046883 | GSDME | c.1161C>G (p.Tyr387Ter) c.669C>G (p.Tyr223Ter) c.21C>G (p.Tyr7Ter) | |
7 | g.24706206G>T | CA367046884 | GSDME | c.1161C>A (p.Tyr387Ter) c.669C>A (p.Tyr223Ter) c.21C>A (p.Tyr7Ter) | |
7 | g.24706207_24706210del | CA2695207533 | GSDME | c.1158_1161del (p.Tyr387SerfsTer?) c.666_669del (p.Tyr223SerfsTer?) c.18_21del (p.Tyr7SerfsTer?) | |
7 | g.24706207T>A | CA367046885 | GSDME | c.1160A>T (p.Tyr387Phe) c.668A>T (p.Tyr223Phe) c.20A>T (p.Tyr7Phe) | |
7 | g.24706207T>C | CA367046886 | GSDME | c.1160A>G (p.Tyr387Cys) c.668A>G (p.Tyr223Cys) c.20A>G (p.Tyr7Cys) | gnomAD v4 |
7 | g.24706207T>G | CA367046887 | GSDME | c.1160A>C (p.Tyr387Ser) c.668A>C (p.Tyr223Ser) c.20A>C (p.Tyr7Ser) | |
7 | g.24706208A>C | CA367046890 | GSDME | c.1159T>G (p.Tyr387Asp) c.667T>G (p.Tyr223Asp) c.19T>G (p.Tyr7Asp) | |
7 | g.24706208A>G | CA367046888 | GSDME | c.1159T>C (p.Tyr387His) c.667T>C (p.Tyr223His) c.19T>C (p.Tyr7His) | |
7 | g.24706208A>T | CA367046889 | GSDME | c.1159T>A (p.Tyr387Asn) c.667T>A (p.Tyr223Asn) c.19T>A (p.Tyr7Asn) | |
7 | g.24706208_24706211dup | CA2682080225 | GSDME | c.1156_1159dup (p.Tyr387CysfsTer14) c.664_667dup (p.Tyr223CysfsTer14) c.16_19dup (p.Tyr7CysfsTer14) | gnomAD v4 |
7 | g.24706209G>A | CA454019390 | GSDME | c.1158C>T (p.Ala386=) c.666C>T (p.Ala222=) c.18C>T (p.Ala6=) | |
7 | g.24706209G>C | CA454019391 | GSDME | c.1158C>G (p.Ala386=) c.666C>G (p.Ala222=) c.18C>G (p.Ala6=) | |
7 | g.24706209G>T | CA454019392 | GSDME | c.1158C>A (p.Ala386=) c.666C>A (p.Ala222=) c.18C>A (p.Ala6=) | |
7 | g.24706210G>A | CA367046891 | GSDME | c.1157C>T (p.Ala386Val) c.665C>T (p.Ala222Val) c.17C>T (p.Ala6Val) | |
7 | g.24706210G>C | CA367046892 | GSDME | c.1157C>G (p.Ala386Gly) c.665C>G (p.Ala222Gly) c.17C>G (p.Ala6Gly) | |
7 | g.24706210G>T | CA367046893 | GSDME | c.1157C>A (p.Ala386Asp) c.665C>A (p.Ala222Asp) c.17C>A (p.Ala6Asp) | gnomAD v4 |
7 | g.24706211C>A | CA367046894 | GSDME | c.1156G>T (p.Ala386Ser) c.664G>T (p.Ala222Ser) c.16G>T (p.Ala6Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.24706211C= | CA1695103476 | GSDME | c.1156G= (p.Ala386=) c.664G= (p.Ala222=) c.16G= (p.Ala6=) | |
7 | g.24706211C>G | CA367046895 | GSDME | c.1156G>C (p.Ala386Pro) c.664G>C (p.Ala222Pro) c.16G>C (p.Ala6Pro) | |
7 | g.24706211C>T | CA4191394 | GSDME | c.1156G>A (p.Ala386Thr) c.664G>A (p.Ala222Thr) c.16G>A (p.Ala6Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706212T>A | CA454019393 | GSDME | c.1155A>T (p.Thr385=) c.663A>T (p.Thr221=) c.15A>T (p.Thr5=) | |
7 | g.24706212T>C | CA454019394 | GSDME | c.1155A>G (p.Thr385=) c.663A>G (p.Thr221=) c.15A>G (p.Thr5=) | |
7 | g.24706212T>G | CA454019395 | GSDME | c.1155A>C (p.Thr385=) c.663A>C (p.Thr221=) c.15A>C (p.Thr5=) | |
7 | g.24706213G>A | CA367046896 | GSDME | c.1154C>T (p.Thr385Ile) c.662C>T (p.Thr221Ile) c.14C>T (p.Thr5Ile) | |
7 | g.24706213G>C | CA367046897 | GSDME | c.1154C>G (p.Thr385Arg) c.662C>G (p.Thr221Arg) c.14C>G (p.Thr5Arg) | |
7 | g.24706213G>T | CA367046898 | GSDME | c.1154C>A (p.Thr385Lys) c.662C>A (p.Thr221Lys) c.14C>A (p.Thr5Lys) | |
7 | g.24706214T>A | CA367046899 | GSDME | c.1153A>T (p.Thr385Ser) c.661A>T (p.Thr221Ser) c.13A>T (p.Thr5Ser) | |
7 | g.24706214T>C | CA367046900 | GSDME | c.1153A>G (p.Thr385Ala) c.661A>G (p.Thr221Ala) c.13A>G (p.Thr5Ala) | |
7 | g.24706214T>G | CA367046901 | GSDME | c.1153A>C (p.Thr385Pro) c.661A>C (p.Thr221Pro) c.13A>C (p.Thr5Pro) | |
7 | g.24706215C>A | CA367046903 | GSDME | c.1152G>T (p.Met384Ile) c.660G>T (p.Met220Ile) c.12G>T (p.Met4Ile) | |
7 | g.24706215C>G | CA367046904 | GSDME | c.1152G>C (p.Met384Ile) c.660G>C (p.Met220Ile) c.12G>C (p.Met4Ile) | gnomAD v4 |
7 | g.24706215C>T | CA367046902 | GSDME | c.1152G>A (p.Met384Ile) c.660G>A (p.Met220Ile) c.12G>A (p.Met4Ile) | |
7 | g.24706216A>C | CA367046906 | GSDME | c.1151T>G (p.Met384Arg) c.659T>G (p.Met220Arg) c.11T>G (p.Met4Arg) | |
7 | g.24706216A>G | CA367046905 | GSDME | c.1151T>C (p.Met384Thr) c.659T>C (p.Met220Thr) c.11T>C (p.Met4Thr) | |
7 | g.24706216A>T | CA367046907 | GSDME | c.1151T>A (p.Met384Lys) c.659T>A (p.Met220Lys) c.11T>A (p.Met4Lys) | |
7 | g.24706217T>A | CA367046908 | GSDME | c.1150A>T (p.Met384Leu) c.658A>T (p.Met220Leu) c.10A>T (p.Met4Leu) | |
7 | g.24706217T>C | CA155341463 | GSDME | c.1150A>G (p.Met384Val) c.658A>G (p.Met220Val) c.10A>G (p.Met4Val) | ClinVar dbSNP gnomAD v4 |
7 | g.24706217T>G | CA367046909 | GSDME | c.1150A>C (p.Met384Leu) c.658A>C (p.Met220Leu) c.10A>C (p.Met4Leu) | |
7 | g.24706217T= | CA1695103478 | GSDME | c.1150A= (p.Met384=) c.658A= (p.Met220=) c.10A= (p.Met4=) | |
7 | g.24706218A= | CA1695103484 | GSDME | c.1149T= (p.Phe383=) c.657T= (p.Phe219=) c.9T= (p.Phe3=) | |
7 | g.24706218A>C | CA367046910 | GSDME | c.1149T>G (p.Phe383Leu) c.657T>G (p.Phe219Leu) c.9T>G (p.Phe3Leu) | |
7 | g.24706218A>G | CA4191396 | GSDME | c.1149T>C (p.Phe383=) c.657T>C (p.Phe219=) c.9T>C (p.Phe3=) | dbSNP ExAC gnomAD v2 |
7 | g.24706218A>T | CA367046911 | GSDME | c.1149T>A (p.Phe383Leu) c.657T>A (p.Phe219Leu) c.9T>A (p.Phe3Leu) | |
7 | g.24706219_24706222dup | CA4191395 | GSDME | c.1146_1149dup (p.Met384ValfsTer17) c.654_657dup (p.Met220ValfsTer17) c.6_9dup (p.Met4ValfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706219A>C | CA367046912 | GSDME | c.1148T>G (p.Phe383Cys) c.656T>G (p.Phe219Cys) c.8T>G (p.Phe3Cys) | |
7 | g.24706219A>G | CA367046913 | GSDME | c.1148T>C (p.Phe383Ser) c.656T>C (p.Phe219Ser) c.8T>C (p.Phe3Ser) | |
7 | g.24706219A>T | CA367046914 | GSDME | c.1148T>A (p.Phe383Tyr) c.656T>A (p.Phe219Tyr) c.8T>A (p.Phe3Tyr) | |
7 | g.24706220A>C | CA367046915 | GSDME | c.1147T>G (p.Phe383Val) c.655T>G (p.Phe219Val) c.7T>G (p.Phe3Val) | |
7 | g.24706220A>G | CA367046916 | GSDME | c.1147T>C (p.Phe383Leu) c.655T>C (p.Phe219Leu) c.7T>C (p.Phe3Leu) | |
7 | g.24706220A>T | CA367046917 | GSDME | c.1147T>A (p.Phe383Ile) c.655T>A (p.Phe219Ile) c.7T>A (p.Phe3Ile) | |
7 | g.24706221C>A | CA454019396 | GSDME | c.1146G>T (p.Leu382=) c.654G>T (p.Leu218=) c.6G>T (p.Leu2=) | |
7 | g.24706221C= | CA1695103487 | GSDME | c.1146G= (p.Leu382=) c.654G= (p.Leu218=) c.6G= (p.Leu2=) | |
7 | g.24706221C>G | CA454019397 | GSDME | c.1146G>C (p.Leu382=) c.654G>C (p.Leu218=) c.6G>C (p.Leu2=) | |
7 | g.24706221C>T | CA4191397 | GSDME | c.1146G>A (p.Leu382=) c.654G>A (p.Leu218=) c.6G>A (p.Leu2=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706222A>C | CA367046918 | GSDME | c.1145T>G (p.Leu382Arg) c.653T>G (p.Leu218Arg) c.5T>G (p.Leu2Arg) | |
7 | g.24706222A>G | CA367046919 | GSDME | c.1145T>C (p.Leu382Pro) c.653T>C (p.Leu218Pro) c.5T>C (p.Leu2Pro) | |
7 | g.24706222A>T | CA367046920 | GSDME | c.1145T>A (p.Leu382Gln) c.653T>A (p.Leu218Gln) c.5T>A (p.Leu2Gln) | |
7 | g.24706223G>A | CA454019398 | GSDME | c.1144C>T (p.Leu382=) c.652C>T (p.Leu218=) c.4C>T (p.Leu2=) | |
7 | g.24706223G>C | CA367046921 | GSDME | c.1144C>G (p.Leu382Val) c.652C>G (p.Leu218Val) c.4C>G (p.Leu2Val) | |
7 | g.24706223G>T | CA367046922 | GSDME | c.1144C>A (p.Leu382Met) c.652C>A (p.Leu218Met) c.4C>A (p.Leu2Met) | |
7 | g.24706228_24706234del | CA2682080226 | GSDME | c.1138_1144del (p.Lys380CysfsTer3) c.646_652del (p.Lys216CysfsTer3) | gnomAD v4 |
7 | g.24706224C>A | CA367046923 | GSDME | c.1143G>T (p.Gln381His) c.651G>T (p.Gln217His) c.3G>T (p.Gln1His) | |
7 | g.24706224C= | CA1695103490 | GSDME | c.1143G= (p.Gln381=) c.651G= (p.Gln217=) c.3G= (p.Gln1=) | |
7 | g.24706224C>G | CA367046924 | GSDME | c.1143G>C (p.Gln381His) c.651G>C (p.Gln217His) c.3G>C (p.Gln1His) | |
7 | g.24706224C>T | CA4191398 | GSDME | c.1143G>A (p.Gln381=) c.651G>A (p.Gln217=) c.3G>A (p.Gln1=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706225T>A | CA367046925 | GSDME | c.1142A>T (p.Gln381Leu) c.650A>T (p.Gln217Leu) c.2A>T (p.Gln1Leu) | |
7 | g.24706225T>C | CA367046926 | GSDME | c.1142A>G (p.Gln381Arg) c.650A>G (p.Gln217Arg) c.2A>G (p.Gln1Arg) | |
7 | g.24706225T>G | CA367046927 | GSDME | c.1142A>C (p.Gln381Pro) c.650A>C (p.Gln217Pro) c.2A>C (p.Gln1Pro) | |
7 | g.24706226G>A | CA367046928 | GSDME | c.1141C>T (p.Gln381Ter) c.649C>T (p.Gln217Ter) c.1C>T (p.Gln1Ter) | |
7 | g.24706226G>C | CA367046929 | GSDME | c.1141C>G (p.Gln381Glu) c.649C>G (p.Gln217Glu) c.1C>G (p.Gln1Glu) | |
7 | g.24706226G>T | CA367046930 | GSDME | c.1141C>A (p.Gln381Lys) c.649C>A (p.Gln217Lys) c.1C>A (p.Gln1Lys) | |
7 | g.24706227C>A | CA367046931 | GSDME | c.1140G>T (p.Lys380Asn) c.648G>T (p.Lys216Asn) | |
7 | g.24706227C>G | CA367046932 | GSDME | c.1140G>C (p.Lys380Asn) c.648G>C (p.Lys216Asn) | |
7 | g.24706227C>T | CA454019399 | GSDME | c.1140G>A (p.Lys380=) c.648G>A (p.Lys216=) | |
7 | g.24706228T>A | CA367046933 | GSDME | c.1139A>T (p.Lys380Met) c.647A>T (p.Lys216Met) | |
7 | g.24706228T>C | CA367046935 | GSDME | c.1139A>G (p.Lys380Arg) c.647A>G (p.Lys216Arg) | |
7 | g.24706228T>G | CA367046934 | GSDME | c.1139A>C (p.Lys380Thr) c.647A>C (p.Lys216Thr) | |
7 | g.24706229T>A | CA367046936 | GSDME | c.1138A>T (p.Lys380Ter) c.646A>T (p.Lys216Ter) | |
7 | g.24706229T>C | CA367046937 | GSDME | c.1138A>G (p.Lys380Glu) c.646A>G (p.Lys216Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.24706229T>G | CA367046938 | GSDME | c.1138A>C (p.Lys380Gln) c.646A>C (p.Lys216Gln) | |
7 | g.24706229T= | CA1695103494 | GSDME | c.1138A= (p.Lys380=) c.646A= (p.Lys216=) | |
7 | g.24706232_24706238del | CA2682080227 | GSDME | c.1132_1138del (p.Gly378SerfsTer5) c.640_646del (p.Gly214SerfsTer5) | gnomAD v4 |
7 | g.24706230G>A | CA454019400 | GSDME | c.1137C>T (p.Ser379=) c.645C>T (p.Ser215=) | gnomAD v4 |
7 | g.24706230G>C | CA367046939 | GSDME | c.1137C>G (p.Ser379Arg) c.645C>G (p.Ser215Arg) | |
7 | g.24706230G>T | CA367046940 | GSDME | c.1137C>A (p.Ser379Arg) c.645C>A (p.Ser215Arg) | |
7 | g.24706231C>A | CA367046941 | GSDME | c.1136G>T (p.Ser379Ile) c.644G>T (p.Ser215Ile) | COSMIC |
7 | g.24706231C>G | CA367046942 | GSDME | c.1136G>C (p.Ser379Thr) c.644G>C (p.Ser215Thr) | |
7 | g.24706231C>T | CA367046943 | GSDME | c.1136G>A (p.Ser379Asn) c.644G>A (p.Ser215Asn) | |
7 | g.24706232T>A | CA367046944 | GSDME | c.1135A>T (p.Ser379Cys) c.643A>T (p.Ser215Cys) | |
7 | g.24706232T>C | CA367046945 | GSDME | c.1135A>G (p.Ser379Gly) c.643A>G (p.Ser215Gly) | gnomAD v4 |
7 | g.24706232T>G | CA367046946 | GSDME | c.1135A>C (p.Ser379Arg) c.643A>C (p.Ser215Arg) | |
7 | g.24706233G>A | CA454019401 | GSDME | c.1134C>T (p.Gly378=) c.642C>T (p.Gly214=) | |
7 | g.24706233G>C | CA454019402 | GSDME | c.1134C>G (p.Gly378=) c.642C>G (p.Gly214=) | |
7 | g.24706233G>T | CA454019403 | GSDME | c.1134C>A (p.Gly378=) c.642C>A (p.Gly214=) | |
7 | g.24706234C>A | CA367046949 | GSDME | c.1133G>T (p.Gly378Val) c.641G>T (p.Gly214Val) | |
7 | g.24706234C>G | CA367046948 | GSDME | c.1133G>C (p.Gly378Ala) c.641G>C (p.Gly214Ala) | |
7 | g.24706234C>T | CA367046947 | GSDME | c.1133G>A (p.Gly378Asp) c.641G>A (p.Gly214Asp) | |
7 | g.24706235C>A | CA367046950 | GSDME | c.1132G>T (p.Gly378Cys) c.640G>T (p.Gly214Cys) | |
7 | g.24706235C= | CA1695103499 | GSDME | c.1132G= (p.Gly378=) c.640G= (p.Gly214=) | |
7 | g.24706235C>G | CA155341488 | GSDME | c.1132G>C (p.Gly378Arg) c.640G>C (p.Gly214Arg) | dbSNP |
7 | g.24706235C>T | CA367046951 | GSDME | c.1132G>A (p.Gly378Ser) c.640G>A (p.Gly214Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706236T>A | CA454019404 | GSDME | c.1131A>T (p.Ala377=) c.639A>T (p.Ala213=) | |
7 | g.24706236T>C | CA454019406 | GSDME | c.1131A>G (p.Ala377=) c.639A>G (p.Ala213=) | dbSNP |
7 | g.24706236T>G | CA454019405 | GSDME | c.1131A>C (p.Ala377=) c.639A>C (p.Ala213=) | |
7 | g.24706237G>A | CA367046952 | GSDME | c.1130C>T (p.Ala377Val) c.638C>T (p.Ala213Val) | COSMIC |
7 | g.24706237G>C | CA367046953 | GSDME | c.1130C>G (p.Ala377Gly) c.638C>G (p.Ala213Gly) | |
7 | g.24706237G>T | CA367046954 | GSDME | c.1130C>A (p.Ala377Glu) c.638C>A (p.Ala213Glu) | |
7 | g.24706238C>A | CA367046955 | GSDME | c.1129G>T (p.Ala377Ser) c.637G>T (p.Ala213Ser) | |
7 | g.24706238C>G | CA367046956 | GSDME | c.1129G>C (p.Ala377Pro) c.637G>C (p.Ala213Pro) | gnomAD v4 |
7 | g.24706238C>T | CA367046957 | GSDME | c.1129G>A (p.Ala377Thr) c.637G>A (p.Ala213Thr) | gnomAD v4 |
7 | g.24706239A= | CA1695103503 | GSDME | c.1128T= (p.Asp376=) c.636T= (p.Asp212=) | |
7 | g.24706239A>C | CA367046958 | GSDME | c.1128T>G (p.Asp376Glu) c.636T>G (p.Asp212Glu) | |
7 | g.24706239A>G | CA4191399 | GSDME | c.1128T>C (p.Asp376=) c.636T>C (p.Asp212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706239A>T | CA367046959 | GSDME | c.1128T>A (p.Asp376Glu) c.636T>A (p.Asp212Glu) | |
7 | g.24706240T>A | CA367046962 | GSDME | c.1127A>T (p.Asp376Val) c.635A>T (p.Asp212Val) | |
7 | g.24706240T>C | CA367046960 | GSDME | c.1127A>G (p.Asp376Gly) c.635A>G (p.Asp212Gly) | |
7 | g.24706240T>G | CA367046961 | GSDME | c.1127A>C (p.Asp376Ala) c.635A>C (p.Asp212Ala) | |
7 | g.24706241C>A | CA367046963 | GSDME | c.1126G>T (p.Asp376Tyr) c.634G>T (p.Asp212Tyr) | |
7 | g.24706241C>G | CA367046965 | GSDME | c.1126G>C (p.Asp376His) c.634G>C (p.Asp212His) | |
7 | g.24706241C>T | CA367046964 | GSDME | c.1126G>A (p.Asp376Asn) c.634G>A (p.Asp212Asn) | gnomAD v4 |
7 | g.24706242C>A | CA367046966 | GSDME | c.1125G>T (p.Glu375Asp) c.633G>T (p.Glu211Asp) | |
7 | g.24706242C= | CA1695103507 | GSDME | c.1125G= (p.Glu375=) c.633G= (p.Glu211=) | |
7 | g.24706242C>G | CA4191400 | GSDME | c.1125G>C (p.Glu375Asp) c.633G>C (p.Glu211Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706242C>T | CA454019407 | GSDME | c.1125G>A (p.Glu375=) c.633G>A (p.Glu211=) | gnomAD v4 |
7 | g.24706243T>A | CA367046967 | GSDME | c.1124A>T (p.Glu375Val) c.632A>T (p.Glu211Val) | |
7 | g.24706243T>C | CA367046968 | GSDME | c.1124A>G (p.Glu375Gly) c.632A>G (p.Glu211Gly) | |
7 | g.24706243T>G | CA367046969 | GSDME | c.1124A>C (p.Glu375Ala) c.632A>C (p.Glu211Ala) | |
7 | g.24706244C>A | CA367046970 | GSDME | c.1123G>T (p.Glu375Ter) c.631G>T (p.Glu211Ter) | gnomAD v4 |
7 | g.24706244C= | CA1695103512 | GSDME | c.1123G= (p.Glu375=) c.631G= (p.Glu211=) | |
7 | g.24706244C>G | CA367046971 | GSDME | c.1123G>C (p.Glu375Gln) c.631G>C (p.Glu211Gln) | |
7 | g.24706244C>T | CA4191401 | GSDME | c.1123G>A (p.Glu375Lys) c.631G>A (p.Glu211Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706245G>A | CA182126 | GSDME | c.1122C>T (p.Pro374=) c.630C>T (p.Pro210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706245G>C | CA454019408 | GSDME | c.1122C>G (p.Pro374=) c.630C>G (p.Pro210=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706245G= | CA1695103519 | GSDME | c.1122C= (p.Pro374=) c.630C= (p.Pro210=) | |
7 | g.24706245G>T | CA454019409 | GSDME | c.1122C>A (p.Pro374=) c.630C>A (p.Pro210=) | |
7 | g.24706246G>A | CA4191402 | GSDME | c.1121C>T (p.Pro374Leu) c.629C>T (p.Pro210Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706246G>C | CA367046972 | GSDME | c.1121C>G (p.Pro374Arg) c.629C>G (p.Pro210Arg) | |
7 | g.24706246G= | CA1695103530 | GSDME | c.1121C= (p.Pro374=) c.629C= (p.Pro210=) | |
7 | g.24706246G>T | CA367046973 | GSDME | c.1121C>A (p.Pro374His) c.629C>A (p.Pro210His) | |
7 | g.24706247G>A | CA367046976 | GSDME | c.1120C>T (p.Pro374Ser) c.628C>T (p.Pro210Ser) | COSMIC |
7 | g.24706247G>C | CA367046975 | GSDME | c.1120C>G (p.Pro374Ala) c.628C>G (p.Pro210Ala) | |
7 | g.24706247G>T | CA367046974 | GSDME | c.1120C>A (p.Pro374Thr) c.628C>A (p.Pro210Thr) | |
7 | g.24706248G>A | CA454019410 | GSDME | c.1119C>T (p.Gly373=) c.627C>T (p.Gly209=) | |
7 | g.24706248G>C | CA454019411 | GSDME | c.1119C>G (p.Gly373=) c.627C>G (p.Gly209=) | dbSNP gnomAD v4 |
7 | g.24706248G= | CA1695103537 | GSDME | c.1119C= (p.Gly373=) c.627C= (p.Gly209=) | |
7 | g.24706248G>T | CA454019412 | GSDME | c.1119C>A (p.Gly373=) c.627C>A (p.Gly209=) | gnomAD v4 |
7 | g.24706249C>A | CA367046977 | GSDME | c.1118G>T (p.Gly373Val) c.626G>T (p.Gly209Val) | |
7 | g.24706249C= | CA1695103544 | GSDME | c.1118G= (p.Gly373=) c.626G= (p.Gly209=) | |
7 | g.24706249C>G | CA367046978 | GSDME | c.1118G>C (p.Gly373Ala) c.626G>C (p.Gly209Ala) | |
7 | g.24706249C>T | CA182128 | GSDME | c.1118G>A (p.Gly373Asp) c.626G>A (p.Gly209Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706250C>A | CA367046979 | GSDME | c.1117G>T (p.Gly373Cys) c.625G>T (p.Gly209Cys) | |
7 | g.24706250C= | CA1695103551 | GSDME | c.1117G= (p.Gly373=) c.625G= (p.Gly209=) | |
7 | g.24706250C>G | CA367046980 | GSDME | c.1117G>C (p.Gly373Arg) c.625G>C (p.Gly209Arg) | |
7 | g.24706250C>T | CA367046981 | GSDME | c.1117G>A (p.Gly373Ser) c.625G>A (p.Gly209Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706251C>A | CA454019413 | GSDME | c.1116G>T (p.Pro372=) c.624G>T (p.Pro208=) | |
7 | g.24706251C= | CA1695103556 | GSDME | c.1116G= (p.Pro372=) c.624G= (p.Pro208=) | |
7 | g.24706251C>G | CA454019414 | GSDME | c.1116G>C (p.Pro372=) c.624G>C (p.Pro208=) | |
7 | g.24706251C>T | CA4191403 | GSDME | c.1116G>A (p.Pro372=) c.624G>A (p.Pro208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706252G>A | CA4191404 | GSDME | c.1115C>T (p.Pro372Leu) c.623C>T (p.Pro208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706252G>C | CA367046982 | GSDME | c.1115C>G (p.Pro372Arg) c.623C>G (p.Pro208Arg) | |
7 | g.24706252G= | CA1695103559 | GSDME | c.1115C= (p.Pro372=) c.623C= (p.Pro208=) | |
7 | g.24706252G>T | CA367046983 | GSDME | c.1115C>A (p.Pro372Gln) c.623C>A (p.Pro208Gln) | gnomAD v4 |
7 | g.24706253G>A | CA367046984 | GSDME | c.1114C>T (p.Pro372Ser) c.622C>T (p.Pro208Ser) | gnomAD v4 COSMIC |
7 | g.24706253G>C | CA367046985 | GSDME | c.1114C>G (p.Pro372Ala) c.622C>G (p.Pro208Ala) | |
7 | g.24706253G>T | CA367046986 | GSDME | c.1114C>A (p.Pro372Thr) c.622C>A (p.Pro208Thr) | |
7 | g.24706253_24706257dup | CA2739266367 | GSDME | c.1110_1114dup (p.Pro372ArgfsTer15) c.618_622dup (p.Pro208ArgfsTer15) | ClinVar |
7 | g.24706254A= | CA1695103563 | GSDME | c.1113T= (p.Cys371=) c.621T= (p.Cys207=) | |
7 | g.24706254A>C | CA367046987 | GSDME | c.1113T>G (p.Cys371Trp) c.621T>G (p.Cys207Trp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.24706254A>G | CA454019415 | GSDME | c.1113T>C (p.Cys371=) c.621T>C (p.Cys207=) | dbSNP |
7 | g.24706254A>T | CA367046988 | GSDME | c.1113T>A (p.Cys371Ter) c.621T>A (p.Cys207Ter) | |
7 | g.24706255_24706267del | CA2682080228 | GSDME | c.1101_1113del (p.Leu367PhefsTer14) c.609_621del (p.Leu203PhefsTer14) | gnomAD v4 |
7 | g.24706256_24706280dup | CA2580076960 | GSDME | c.1089_1113dup (p.Pro372GlyfsTer36) c.597_621dup (p.Pro208GlyfsTer36) | ClinVar |
7 | g.24706255C>A | CA367046989 | GSDME | c.1112G>T (p.Cys371Phe) c.620G>T (p.Cys207Phe) | dbSNP gnomAD v2 |
7 | g.24706255C= | CA1695103566 | GSDME | c.1112G= (p.Cys371=) c.620G= (p.Cys207=) | |
7 | g.24706255C>G | CA367046990 | GSDME | c.1112G>C (p.Cys371Ser) c.620G>C (p.Cys207Ser) | |
7 | g.24706255C>T | CA367046991 | GSDME | c.1112G>A (p.Cys371Tyr) c.620G>A (p.Cys207Tyr) | |
7 | g.24706256A= | CA1695103568 | GSDME | c.1111T= (p.Cys371=) c.619T= (p.Cys207=) | |
7 | g.24706256A>C | CA4191405 | GSDME | c.1111T>G (p.Cys371Gly) c.619T>G (p.Cys207Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706256A>G | CA367046992 | GSDME | c.1111T>C (p.Cys371Arg) c.619T>C (p.Cys207Arg) | gnomAD v4 |
7 | g.24706256A>T | CA367046993 | GSDME | c.1111T>A (p.Cys371Ser) c.619T>A (p.Cys207Ser) | |
7 | g.24706257C>A | CA454019418 | GSDME | c.1110G>T (p.Gly370=) c.618G>T (p.Gly206=) | |
7 | g.24706257C>G | CA454019417 | GSDME | c.1110G>C (p.Gly370=) c.618G>C (p.Gly206=) | |
7 | g.24706257C>T | CA454019416 | GSDME | c.1110G>A (p.Gly370=) c.618G>A (p.Gly206=) | |
7 | g.24706258C>A | CA367046994 | GSDME | c.1109G>T (p.Gly370Val) c.617G>T (p.Gly206Val) | |
7 | g.24706258C= | CA1695103571 | GSDME | c.1109G= (p.Gly370=) c.617G= (p.Gly206=) | |
7 | g.24706258C>G | CA367046995 | GSDME | c.1109G>C (p.Gly370Ala) c.617G>C (p.Gly206Ala) | |
7 | g.24706258C>T | CA4191406 | GSDME | c.1109G>A (p.Gly370Glu) c.617G>A (p.Gly206Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706259C>A | CA367046996 | GSDME | c.1108G>T (p.Gly370Trp) c.616G>T (p.Gly206Trp) | |
7 | g.24706259C= | CA1695103574 | GSDME | c.1108G= (p.Gly370=) c.616G= (p.Gly206=) | |
7 | g.24706259C>G | CA367046997 | GSDME | c.1108G>C (p.Gly370Arg) c.616G>C (p.Gly206Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706259C>T | CA4191407 | GSDME | c.1108G>A (p.Gly370Arg) c.616G>A (p.Gly206Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706260A>C | CA454019421 | GSDME | c.1107T>G (p.Gly369=) c.615T>G (p.Gly205=) | |
7 | g.24706260A>G | CA454019420 | GSDME | c.1107T>C (p.Gly369=) c.615T>C (p.Gly205=) | gnomAD v4 |
7 | g.24706260A>T | CA454019419 | GSDME | c.1107T>A (p.Gly369=) c.615T>A (p.Gly205=) | |
7 | g.24706261C>A | CA367046999 | GSDME | c.1106G>T (p.Gly369Val) c.614G>T (p.Gly205Val) | |
7 | g.24706261C>G | CA367047000 | GSDME | c.1106G>C (p.Gly369Ala) c.614G>C (p.Gly205Ala) | |
7 | g.24706261C>T | CA367046998 | GSDME | c.1106G>A (p.Gly369Asp) c.614G>A (p.Gly205Asp) | COSMIC |
7 | g.24706262C>A | CA367047001 | GSDME | c.1105G>T (p.Gly369Cys) c.613G>T (p.Gly205Cys) | |
7 | g.24706262C= | CA1695103579 | GSDME | c.1105G= (p.Gly369=) c.613G= (p.Gly205=) | |
7 | g.24706262C>G | CA367047002 | GSDME | c.1105G>C (p.Gly369Arg) c.613G>C (p.Gly205Arg) | |
7 | g.24706262C>T | CA4191408 | GSDME | c.1105G>A (p.Gly369Ser) c.613G>A (p.Gly205Ser) | dbSNP ExAC gnomAD v4 |
7 | g.24706263C>A | CA367047003 | GSDME | c.1104G>T (p.Gln368His) c.612G>T (p.Gln204His) | gnomAD v4 |
7 | g.24706263C= | CA1695103584 | GSDME | c.1104G= (p.Gln368=) c.612G= (p.Gln204=) | |
7 | g.24706263C>G | CA4191409 | GSDME | c.1104G>C (p.Gln368His) c.612G>C (p.Gln204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.24706263C>T | CA454019422 | GSDME | c.1104G>A (p.Gln368=) c.612G>A (p.Gln204=) | |
7 | g.24706264T>A | CA367047006 | GSDME | c.1103A>T (p.Gln368Leu) c.611A>T (p.Gln204Leu) | gnomAD v4 |
7 | g.24706264T>C | CA367047004 | GSDME | c.1103A>G (p.Gln368Arg) c.611A>G (p.Gln204Arg) | gnomAD v4 |
7 | g.24706264T>G | CA367047005 | GSDME | c.1103A>C (p.Gln368Pro) c.611A>C (p.Gln204Pro) | dbSNP |
7 | g.24706264T= | CA1695103589 | GSDME | c.1103A= (p.Gln368=) c.611A= (p.Gln204=) | |
7 | g.24706264_24706318dup | CA2580076961 | GSDME | c.1049_1103dup (p.Gln368HisfsTer?) c.557_611dup (p.Gln204HisfsTer?) | ClinVar |
7 | g.24706265G>A | CA367047007 | GSDME | c.1102C>T (p.Gln368Ter) c.610C>T (p.Gln204Ter) | gnomAD v4 |
7 | g.24706265G>C | CA367047008 | GSDME | c.1102C>G (p.Gln368Glu) c.610C>G (p.Gln204Glu) | ClinVar dbSNP |
7 | g.24706265G>T | CA367047009 | GSDME | c.1102C>A (p.Gln368Lys) c.610C>A (p.Gln204Lys) | |
7 | g.24706266T>A | CA367047010 | GSDME | c.1101A>T (p.Leu367Phe) c.609A>T (p.Leu203Phe) | |
7 | g.24706266T>C | CA454019423 | GSDME | c.1101A>G (p.Leu367=) c.609A>G (p.Leu203=) | |
7 | g.24706266T>G | CA367047011 | GSDME | c.1101A>C (p.Leu367Phe) c.609A>C (p.Leu203Phe) | |
7 | g.24706266T= | CA1695103592 | GSDME | c.1101A= (p.Leu367=) c.609A= (p.Leu203=) | |
7 | g.24706267A= | CA1695103596 | GSDME | c.1100T= (p.Leu367=) c.608T= (p.Leu203=) | |
7 | g.24706267A>C | CA367047012 | GSDME | c.1100T>G (p.Leu367Ter) c.608T>G (p.Leu203Ter) | |
7 | g.24706267A>G | CA4191410 | GSDME | c.1100T>C (p.Leu367Ser) c.608T>C (p.Leu203Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706267A>T | CA367047013 | GSDME | c.1100T>A (p.Leu367Ter) c.608T>A (p.Leu203Ter) | |
7 | g.24706268dup | CA917965777 | GSDME | c.1100dup (p.Leu367PhefsTer?) c.608dup (p.Leu203PhefsTer?) | dbSNP gnomAD v4 |
7 | g.24706267_24706281delinsAAGCTGCACCCCACC | CA1695103599 | GSDME | c.1086_1100delinsGGTGGGGTGCAGCTT (p.Leu362=) c.594_608delinsGGTGGGGTGCAGCTT (p.Leu198=) | |
7 | g.24706268A>C | CA367047014 | GSDME | c.1099T>G (p.Leu367Val) c.607T>G (p.Leu203Val) | |
7 | g.24706268A>G | CA454019424 | GSDME | c.1099T>C (p.Leu367=) c.607T>C (p.Leu203=) | |
7 | g.24706268A>T | CA367047015 | GSDME | c.1099T>A (p.Leu367Ile) c.607T>A (p.Leu203Ile) | |
7 | g.24706275_24706288del | CA1695103605 | GSDME | c.1086_1099del (p.Val363ThrfsTer?) c.594_607del (p.Val199ThrfsTer?) | dbSNP gnomAD v4 |
7 | g.24706269G>A | CA454019425 | GSDME | c.1098C>T (p.Ser366=) c.606C>T (p.Ser202=) | gnomAD v4 |
7 | g.24706269G>C | CA367047016 | GSDME | c.1098C>G (p.Ser366Arg) c.606C>G (p.Ser202Arg) | |
7 | g.24706269G>T | CA367047017 | GSDME | c.1098C>A (p.Ser366Arg) c.606C>A (p.Ser202Arg) | |
7 | g.24706270C>A | CA367047018 | GSDME | c.1097G>T (p.Ser366Ile) c.605G>T (p.Ser202Ile) | |
7 | g.24706270C= | CA1695103607 | GSDME | c.1097G= (p.Ser366=) c.605G= (p.Ser202=) | |
7 | g.24706270C>G | CA155341549 | GSDME | c.1097G>C (p.Ser366Thr) c.605G>C (p.Ser202Thr) | dbSNP |
7 | g.24706270C>T | CA367047019 | GSDME | c.1097G>A (p.Ser366Asn) c.605G>A (p.Ser202Asn) | gnomAD v4 |
7 | g.24706270_24706282dup | CA2580615863 | GSDME | c.1085_1097dup (p.Leu367GlyfsTer?) c.593_605dup (p.Leu203GlyfsTer?) | ClinVar |
7 | g.24706271T>A | CA367047020 | GSDME | c.1096A>T (p.Ser366Cys) c.604A>T (p.Ser202Cys) | |
7 | g.24706271T>C | CA367047021 | GSDME | c.1096A>G (p.Ser366Gly) c.604A>G (p.Ser202Gly) | |
7 | g.24706271T>G | CA367047022 | GSDME | c.1096A>C (p.Ser366Arg) c.604A>C (p.Ser202Arg) | |
7 | g.24706272G>A | CA454019426 | GSDME | c.1095C>T (p.Cys365=) c.603C>T (p.Cys201=) | |
7 | g.24706272G>C | CA367047023 | GSDME | c.1095C>G (p.Cys365Trp) c.603C>G (p.Cys201Trp) | |
7 | g.24706272G>T | CA367047024 | GSDME | c.1095C>A (p.Cys365Ter) c.603C>A (p.Cys201Ter) | |
7 | g.24706274_24706438del | CA2695207534 | GSDME | c.991-60_1095del c.499-60_603del | |
7 | g.24706273C>A | CA367047025 | GSDME | c.1094G>T (p.Cys365Phe) c.602G>T (p.Cys201Phe) | |
7 | g.24706273C= | CA1695103610 | GSDME | c.1094G= (p.Cys365=) c.602G= (p.Cys201=) | |
7 | g.24706273C>G | CA367047026 | GSDME | c.1094G>C (p.Cys365Ser) c.602G>C (p.Cys201Ser) | |
7 | g.24706273C>T | CA4191411 | GSDME | c.1094G>A (p.Cys365Tyr) c.602G>A (p.Cys201Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706274A= | CA1695103613 | GSDME | c.1093T= (p.Cys365=) c.601T= (p.Cys201=) | |
7 | g.24706274A>C | CA367047028 | GSDME | c.1093T>G (p.Cys365Gly) c.601T>G (p.Cys201Gly) | dbSNP |
7 | g.24706274A>G | CA4191412 | GSDME | c.1093T>C (p.Cys365Arg) c.601T>C (p.Cys201Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706274A>T | CA367047027 | GSDME | c.1093T>A (p.Cys365Ser) c.601T>A (p.Cys201Ser) | |
7 | g.24706275C>A | CA454019427 | GSDME | c.1092G>T (p.Gly364=) c.600G>T (p.Gly200=) | |
7 | g.24706275C= | CA1695103632 | GSDME | c.1092G= (p.Gly364=) c.600G= (p.Gly200=) | |
7 | g.24706275C>G | CA454019428 | GSDME | c.1092G>C (p.Gly364=) c.600G>C (p.Gly200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.24706275C>T | CA454019429 | GSDME | c.1092G>A (p.Gly364=) c.600G>A (p.Gly200=) | dbSNP gnomAD v4 |
7 | g.24706276C>A | CA367047029 | GSDME | c.1091G>T (p.Gly364Val) c.599G>T (p.Gly200Val) | |
7 | g.24706276C>G | CA367047030 | GSDME | c.1091G>C (p.Gly364Ala) c.599G>C (p.Gly200Ala) | |
7 | g.24706276C>T | CA367047031 | GSDME | c.1091G>A (p.Gly364Glu) c.599G>A (p.Gly200Glu) | |
7 | g.24706277C>A | CA367047032 | GSDME | c.1090G>T (p.Gly364Trp) c.598G>T (p.Gly200Trp) | |
7 | g.24706277C>G | CA367047033 | GSDME | c.1090G>C (p.Gly364Arg) c.598G>C (p.Gly200Arg) | |
7 | g.24706277C>T | CA367047034 | GSDME | c.1090G>A (p.Gly364Arg) c.598G>A (p.Gly200Arg) | |
7 | g.24706278C>A | CA454019430 | GSDME | c.1089G>T (p.Val363=) c.597G>T (p.Val199=) | |
7 | g.24706278C= | CA1695103638 | GSDME | c.1089G= (p.Val363=) c.597G= (p.Val199=) | |
7 | g.24706278C>G | CA454019431 | GSDME | c.1089G>C (p.Val363=) c.597G>C (p.Val199=) | |
7 | g.24706278C>T | CA454019432 | GSDME | c.1089G>A (p.Val363=) c.597G>A (p.Val199=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706278_24706279insT | CA2682080229 | GSDME | c.1088_1089insA (p.Cys365ValfsTer?) c.596_597insA (p.Cys201ValfsTer?) | gnomAD v4 |
7 | g.24706279A>C | CA367047035 | GSDME | c.1088T>G (p.Val363Gly) c.596T>G (p.Val199Gly) | |
7 | g.24706279A>G | CA367047036 | GSDME | c.1088T>C (p.Val363Ala) c.596T>C (p.Val199Ala) | gnomAD v4 |
7 | g.24706279A>T | CA367047037 | GSDME | c.1088T>A (p.Val363Glu) c.596T>A (p.Val199Glu) | |
7 | g.24706280C>A | CA367047038 | GSDME | c.1087G>T (p.Val363Leu) c.595G>T (p.Val199Leu) | |
7 | g.24706280C= | CA1695103644 | GSDME | c.1087G= (p.Val363=) c.595G= (p.Val199=) | |
7 | g.24706280C>G | CA367047039 | GSDME | c.1087G>C (p.Val363Leu) c.595G>C (p.Val199Leu) | |
7 | g.24706280C>T | CA155341550 | GSDME | c.1087G>A (p.Val363Met) c.595G>A (p.Val199Met) | dbSNP gnomAD v4 |
7 | g.24706281C>A | CA454019433 | GSDME | c.1086G>T (p.Leu362=) c.594G>T (p.Leu198=) | |
7 | g.24706281C>G | CA454019435 | GSDME | c.1086G>C (p.Leu362=) c.594G>C (p.Leu198=) | |
7 | g.24706281C>T | CA454019434 | GSDME | c.1086G>A (p.Leu362=) c.594G>A (p.Leu198=) | |
7 | g.24706282A>C | CA367047042 | GSDME | c.1085T>G (p.Leu362Arg) c.593T>G (p.Leu198Arg) | |
7 | g.24706282A>G | CA367047041 | GSDME | c.1085T>C (p.Leu362Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
7 | g.24706282A>T | CA367047040 | GSDME | c.1085T>A (p.Leu362Gln) c.593T>A (p.Leu198Gln) | |
7 | g.24706283G>A | CA454019436 | GSDME | c.1084C>T (p.Leu362=) c.592C>T (p.Leu198=) | |
7 | g.24706283G>C | CA367047043 | GSDME | c.1084C>G (p.Leu362Val) c.592C>G (p.Leu198Val) | |
7 | g.24706283G>T | CA367047044 | GSDME | c.1084C>A (p.Leu362Met) c.592C>A (p.Leu198Met) | |
7 | g.24706284C>A | CA367047045 | GSDME | c.1083G>T (p.Gln361His) c.591G>T (p.Gln197His) | |
7 | g.24706284C= | CA1695103647 | GSDME | c.1083G= (p.Gln361=) c.591G= (p.Gln197=) | |
7 | g.24706284C>G | CA367047046 | GSDME | c.1083G>C (p.Gln361His) c.591G>C (p.Gln197His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706284C>T | CA454019437 | GSDME | c.1083G>A (p.Gln361=) c.591G>A (p.Gln197=) | COSMIC |
7 | g.24706285T>A | CA367047047 | GSDME | c.1082A>T (p.Gln361Leu) c.590A>T (p.Gln197Leu) | |
7 | g.24706285T>C | CA367047048 | GSDME | c.1082A>G (p.Gln361Arg) c.590A>G (p.Gln197Arg) | |
7 | g.24706285T>G | CA367047049 | GSDME | c.1082A>C (p.Gln361Pro) c.590A>C (p.Gln197Pro) | |
7 | g.24706286G>A | CA367047050 | GSDME | c.1081C>T (p.Gln361Ter) c.589C>T (p.Gln197Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706286G>C | CA367047051 | GSDME | c.1081C>G (p.Gln361Glu) c.589C>G (p.Gln197Glu) | |
7 | g.24706286G= | CA1695103653 | GSDME | c.1081C= (p.Gln361=) c.589C= (p.Gln197=) | |
7 | g.24706286G>T | CA367047052 | GSDME | c.1081C>A (p.Gln361Lys) c.589C>A (p.Gln197Lys) | |
7 | g.24706287C>A | CA454019438 | GSDME | c.1080G>T (p.Leu360=) c.588G>T (p.Leu196=) | |
7 | g.24706287C= | CA1695103660 | GSDME | c.1080G= (p.Leu360=) c.588G= (p.Leu196=) | |
7 | g.24706287C>G | CA454019439 | GSDME | c.1080G>C (p.Leu360=) c.588G>C (p.Leu196=) | |
7 | g.24706287C>T | CA4191413 | GSDME | c.1080G>A (p.Leu360=) c.588G>A (p.Leu196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.24706288A>C | CA367047055 | GSDME | c.1079T>G (p.Leu360Arg) c.587T>G (p.Leu196Arg) | |
7 | g.24706288A>G | CA367047054 | GSDME | c.1079T>C (p.Leu360Pro) c.587T>C (p.Leu196Pro) | |
7 | g.24706288A>T | CA367047053 | GSDME | c.1079T>A (p.Leu360Gln) c.587T>A (p.Leu196Gln) | |
7 | g.24706289G>A | CA454019578 | GSDME | c.1078C>T (p.Leu360=) c.586C>T (p.Leu196=) | |
7 | g.24706289G>C | CA367047056 | GSDME | c.1078C>G (p.Leu360Val) c.586C>G (p.Leu196Val) | gnomAD v4 |
7 | g.24706289G>T | CA367047057 | GSDME | c.1078C>A (p.Leu360Met) c.586C>A (p.Leu196Met) | |
7 | g.24706290G>A | CA454019579 | GSDME | c.1077C>T (p.Phe359=) c.585C>T (p.Phe195=) | gnomAD v4 |
7 | g.24706290G>C | CA367047058 | GSDME | c.1077C>G (p.Phe359Leu) c.585C>G (p.Phe195Leu) | |
7 | g.24706290G= | CA1695103665 | GSDME | c.1077C= (p.Phe359=) c.585C= (p.Phe195=) | |
7 | g.24706290G>T | CA367047059 | GSDME | c.1077C>A (p.Phe359Leu) c.585C>A (p.Phe195Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.24706291A>C | CA367047060 | GSDME | c.1076T>G (p.Phe359Cys) c.584T>G (p.Phe195Cys) | |
7 | g.24706291A>G | CA367047061 | GSDME | c.1076T>C (p.Phe359Ser) c.584T>C (p.Phe195Ser) | |
7 | g.24706291A>T | CA367047062 | GSDME | c.1076T>A (p.Phe359Tyr) c.584T>A (p.Phe195Tyr) | |
7 | g.24706292A>C | CA367047063 | GSDME | c.1075T>G (p.Phe359Val) c.583T>G (p.Phe195Val) | |
7 | g.24706292A>G | CA367047064 | GSDME | c.1075T>C (p.Phe359Leu) c.583T>C (p.Phe195Leu) | |
7 | g.24706292A>T | CA367047065 | GSDME | c.1075T>A (p.Phe359Ile) c.583T>A (p.Phe195Ile) |