Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54814642T>C | CA2430312948 | MAGED2 | c.1272-19T>C (n.1272-19T>C) c.1218-19T>C (n.1218-19T>C) c.1017-19T>C (n.1017-19T>C) | dbSNP gnomAD v4 |
X | g.54814642T= | CA2430312947 | MAGED2 | c.1272-19T= (n.1272-19T=) c.1218-19T= (n.1218-19T=) c.1017-19T= (n.1017-19T=) | |
X | g.54814644G>A | CA2693856147 | MAGED2 | c.1272-17G>A (n.1272-17G>A) c.1218-17G>A (n.1218-17G>A) c.1017-17G>A (n.1017-17G>A) | gnomAD v4 |
X | g.54814646A= | CA2430312949 | MAGED2 | c.1272-15A= (n.1272-15A=) c.1218-15A= (n.1218-15A=) c.1017-15A= (n.1017-15A=) | |
X | g.54814646A>C | CA10426867 | MAGED2 | c.1272-15A>C (n.1272-15A>C) c.1218-15A>C (n.1218-15A>C) c.1017-15A>C (n.1017-15A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814647C>A | CA2579623079 | MAGED2 | c.1272-14C>A (n.1272-14C>A) c.1218-14C>A (n.1218-14C>A) c.1017-14C>A (n.1017-14C>A) | gnomAD v4 |
X | g.54814648C>A | CA2693856156 | MAGED2 | c.1272-13C>A (n.1272-13C>A) c.1218-13C>A (n.1218-13C>A) c.1017-13C>A (n.1017-13C>A) | gnomAD v4 |
X | g.54814648C= | CA2430312950 | MAGED2 | c.1272-13C= (n.1272-13C=) c.1218-13C= (n.1218-13C=) c.1017-13C= (n.1017-13C=) | |
X | g.54814648C>T | CA876410806 | MAGED2 | c.1272-13C>T (n.1272-13C>T) c.1218-13C>T (n.1218-13C>T) c.1017-13C>T (n.1017-13C>T) | dbSNP gnomAD v4 |
X | g.54814649T>C | CA2693856160 | MAGED2 | c.1272-12T>C (n.1272-12T>C) c.1218-12T>C (n.1218-12T>C) c.1017-12T>C (n.1017-12T>C) | gnomAD v4 |
X | g.54814650C>A | CA10426869 | MAGED2 | c.1272-11C>A (n.1272-11C>A) c.1218-11C>A (n.1218-11C>A) c.1017-11C>A (n.1017-11C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814650C= | CA2430312951 | MAGED2 | c.1272-11C= (n.1272-11C=) c.1218-11C= (n.1218-11C=) c.1017-11C= (n.1017-11C=) | |
X | g.54814650C>G | CA10426868 | MAGED2 | c.1272-11C>G (n.1272-11C>G) c.1218-11C>G (n.1218-11C>G) c.1017-11C>G (n.1017-11C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814650C>T | CA876410808 | MAGED2 | c.1272-11C>T (n.1272-11C>T) c.1218-11C>T (n.1218-11C>T) c.1017-11C>T (n.1017-11C>T) | dbSNP gnomAD v4 |
X | g.54814651T>C | CA2693856172 | MAGED2 | c.1272-10T>C (n.1272-10T>C) c.1218-10T>C (n.1218-10T>C) c.1017-10T>C (n.1017-10T>C) | gnomAD v4 |
X | g.54814652C>A | CA2693856177 | MAGED2 | c.1272-9C>A (n.1272-9C>A) c.1218-9C>A (n.1218-9C>A) c.1017-9C>A (n.1017-9C>A) | gnomAD v4 |
X | g.54814652C= | CA2430312952 | MAGED2 | c.1272-9C= (n.1272-9C=) c.1218-9C= (n.1218-9C=) c.1017-9C= (n.1017-9C=) | |
X | g.54814652C>G | CA10426870 | MAGED2 | c.1272-9C>G (n.1272-9C>G) c.1218-9C>G (n.1218-9C>G) c.1017-9C>G (n.1017-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814652C>T | CA2430312953 | MAGED2 | c.1272-9C>T (n.1272-9C>T) c.1218-9C>T (n.1218-9C>T) c.1017-9C>T (n.1017-9C>T) | dbSNP gnomAD v4 |
X | g.54814655del | CA2579623080 | MAGED2 | c.1272-6del (n.1272-6del) c.1218-6del (n.1218-6del) c.1017-6del (n.1017-6del) | |
X | g.54814656C>A | CA2693856182 | MAGED2 | c.1272-5C>A (n.1272-5C>A) c.1218-5C>A (n.1218-5C>A) c.1017-5C>A (n.1017-5C>A) | gnomAD v4 |
X | g.54814656C>T | CA2579623081 | MAGED2 | c.1272-5C>T (n.1272-5C>T) c.1218-5C>T (n.1218-5C>T) c.1017-5C>T (n.1017-5C>T) | |
X | g.54814657C>A | CA2693856185 | MAGED2 | c.1272-4C>A (n.1272-4C>A) c.1218-4C>A (n.1218-4C>A) c.1017-4C>A (n.1017-4C>A) | gnomAD v4 |
X | g.54814657C= | CA2430312954 | MAGED2 | c.1272-4C= (n.1272-4C=) c.1218-4C= (n.1218-4C=) c.1017-4C= (n.1017-4C=) | |
X | g.54814657C>T | CA1133261318 | MAGED2 | c.1272-4C>T (n.1272-4C>T) c.1218-4C>T (n.1218-4C>T) c.1017-4C>T (n.1017-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54814658A= | CA2430312955 | MAGED2 | c.1272-3A= (n.1272-3A=) c.1218-3A= (n.1218-3A=) c.1017-3A= (n.1017-3A=) | |
X | g.54814658A>C | CA641373715 | MAGED2 | c.1272-3A>C (n.1272-3A>C) c.1218-3A>C (n.1218-3A>C) c.1017-3A>C (n.1017-3A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814658A>G | CA10426871 | MAGED2 | c.1272-3A>G (n.1272-3A>G) c.1218-3A>G (n.1218-3A>G) c.1017-3A>G (n.1017-3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54814658A>T | CA2693856193 | MAGED2 | c.1272-3A>T (n.1272-3A>T) c.1218-3A>T (n.1218-3A>T) c.1017-3A>T (n.1017-3A>T) | gnomAD v4 |
X | g.54814659A>C | CA413273770 | MAGED2 | c.1272-2A>C (n.1272-2A>C) c.1218-2A>C (n.1218-2A>C) c.1017-2A>C (n.1017-2A>C) | |
X | g.54814659A>G | CA413273772 | MAGED2 | c.1272-2A>G (n.1272-2A>G) c.1218-2A>G (n.1218-2A>G) c.1017-2A>G (n.1017-2A>G) | gnomAD v4 |
X | g.54814659A>T | CA413273775 | MAGED2 | c.1272-2A>T (n.1272-2A>T) c.1218-2A>T (n.1218-2A>T) c.1017-2A>T (n.1017-2A>T) | |
X | g.54814660G>A | CA413273777 | MAGED2 | c.1272-1G>A (n.1272-1G>A) c.1218-1G>A (n.1218-1G>A) c.1017-1G>A (n.1017-1G>A) | |
X | g.54814660G>C | CA413273780 | MAGED2 | c.1272-1G>C (n.1272-1G>C) c.1218-1G>C (n.1218-1G>C) c.1017-1G>C (n.1017-1G>C) | |
X | g.54814660G>T | CA413273783 | MAGED2 | c.1272-1G>T (n.1272-1G>T) c.1218-1G>T (n.1218-1G>T) c.1017-1G>T (n.1017-1G>T) | |
X | g.54814661G>A | CA516582411 | MAGED2 | c.1272G>A (p.Lys424=) c.1218G>A (p.Lys406=) c.1017G>A (p.Lys339=) | gnomAD v4 |
X | g.54814661G>C | CA413273785 | MAGED2 | c.1272G>C (p.Lys424Asn) c.1218G>C (p.Lys406Asn) c.1017G>C (p.Lys339Asn) | |
X | g.54814661G>T | CA413273788 | MAGED2 | c.1272G>T (p.Lys424Asn) c.1218G>T (p.Lys406Asn) c.1017G>T (p.Lys339Asn) | |
X | g.54814662T>A | CA413273794 | MAGED2 | c.1273T>A (p.Tyr425Asn) c.1219T>A (p.Tyr407Asn) c.1018T>A (p.Tyr340Asn) | |
X | g.54814662T>C | CA413273796 | MAGED2 | c.1273T>C (p.Tyr425His) c.1219T>C (p.Tyr407His) c.1018T>C (p.Tyr340His) | gnomAD v4 |
X | g.54814662T>G | CA413273791 | MAGED2 | c.1273T>G (p.Tyr425Asp) c.1219T>G (p.Tyr407Asp) c.1018T>G (p.Tyr340Asp) | |
X | g.54814663A>C | CA413273801 | MAGED2 | c.1274A>C (p.Tyr425Ser) c.1220A>C (p.Tyr407Ser) c.1019A>C (p.Tyr340Ser) | |
X | g.54814663A>G | CA413273804 | MAGED2 | c.1274A>G (p.Tyr425Cys) c.1220A>G (p.Tyr407Cys) c.1019A>G (p.Tyr340Cys) | |
X | g.54814663A>T | CA413273805 | MAGED2 | c.1274A>T (p.Tyr425Phe) c.1220A>T (p.Tyr407Phe) c.1019A>T (p.Tyr340Phe) | |
X | g.54814664C>A | CA413273809 | MAGED2 | c.1275C>A (p.Tyr425Ter) c.1221C>A (p.Tyr407Ter) c.1020C>A (p.Tyr340Ter) | gnomAD v4 |
X | g.54814664C>G | CA413273811 | MAGED2 | c.1275C>G (p.Tyr425Ter) c.1221C>G (p.Tyr407Ter) c.1020C>G (p.Tyr340Ter) | |
X | g.54814664C>T | CA516582417 | MAGED2 | c.1275C>T (p.Tyr425=) c.1221C>T (p.Tyr407=) c.1020C>T (p.Tyr340=) | gnomAD v4 |
X | g.54814665C>A | CA413273814 | MAGED2 | c.1276C>A (p.Leu426Met) c.1222C>A (p.Leu408Met) c.1021C>A (p.Leu341Met) | gnomAD v4 |
X | g.54814665C>G | CA413273817 | MAGED2 | c.1276C>G (p.Leu426Val) c.1222C>G (p.Leu408Val) c.1021C>G (p.Leu341Val) | |
X | g.54814665C>T | CA516582418 | MAGED2 | c.1276C>T (p.Leu426=) c.1222C>T (p.Leu408=) c.1021C>T (p.Leu341=) | gnomAD v4 |
X | g.54814666T>A | CA413273818 | MAGED2 | c.1277T>A (p.Leu426Gln) c.1223T>A (p.Leu408Gln) c.1022T>A (p.Leu341Gln) | |
X | g.54814666T>C | CA413273821 | MAGED2 | c.1277T>C (p.Leu426Pro) c.1223T>C (p.Leu408Pro) c.1022T>C (p.Leu341Pro) | |
X | g.54814666T>G | CA413273824 | MAGED2 | c.1277T>G (p.Leu426Arg) c.1223T>G (p.Leu408Arg) c.1022T>G (p.Leu341Arg) | |
X | g.54814667G>A | CA516582423 | MAGED2 | c.1278G>A (p.Leu426=) c.1224G>A (p.Leu408=) c.1023G>A (p.Leu341=) | |
X | g.54814667G>C | CA516582425 | MAGED2 | c.1278G>C (p.Leu426=) c.1224G>C (p.Leu408=) c.1023G>C (p.Leu341=) | COSMIC |
X | g.54814667G>T | CA516582426 | MAGED2 | c.1278G>T (p.Leu426=) c.1224G>T (p.Leu408=) c.1023G>T (p.Leu341=) | |
X | g.54814668del | CA2579623082 | MAGED2 | c.1279del (p.Asp427ThrfsTer28) c.1225del (p.Asp409ThrfsTer28) c.1024del (p.Asp342ThrfsTer28) | |
X | g.54814668G>A | CA413273827 | MAGED2 | c.1279G>A (p.Asp427Asn) c.1225G>A (p.Asp409Asn) c.1024G>A (p.Asp342Asn) | |
X | g.54814668G>C | CA413273830 | MAGED2 | c.1279G>C (p.Asp427His) c.1225G>C (p.Asp409His) c.1024G>C (p.Asp342His) | dbSNP gnomAD v4 |
X | g.54814668G= | CA2430312956 | MAGED2 | c.1279G= (p.Asp427=) c.1225G= (p.Asp409=) c.1024G= (p.Asp342=) | |
X | g.54814668G>T | CA413273833 | MAGED2 | c.1279G>T (p.Asp427Tyr) c.1225G>T (p.Asp409Tyr) c.1024G>T (p.Asp342Tyr) | gnomAD v4 |
X | g.54814669A>C | CA413273840 | MAGED2 | c.1280A>C (p.Asp427Ala) c.1226A>C (p.Asp409Ala) c.1025A>C (p.Asp342Ala) | |
X | g.54814669A>G | CA413273837 | MAGED2 | c.1280A>G (p.Asp427Gly) c.1226A>G (p.Asp409Gly) c.1025A>G (p.Asp342Gly) | gnomAD v4 |
X | g.54814669A>T | CA413273835 | MAGED2 | c.1280A>T (p.Asp427Val) c.1226A>T (p.Asp409Val) c.1025A>T (p.Asp342Val) | gnomAD v4 |
X | g.54814670C>A | CA413273843 | MAGED2 | c.1281C>A (p.Asp427Glu) c.1227C>A (p.Asp409Glu) c.1026C>A (p.Asp342Glu) | |
X | g.54814670C>G | CA413273845 | MAGED2 | c.1281C>G (p.Asp427Glu) c.1227C>G (p.Asp409Glu) c.1026C>G (p.Asp342Glu) | |
X | g.54814670C>T | CA516582433 | MAGED2 | c.1281C>T (p.Asp427=) c.1227C>T (p.Asp409=) c.1026C>T (p.Asp342=) | |
X | g.54814671T>A | CA413273849 | MAGED2 | c.1282T>A (p.Tyr428Asn) c.1228T>A (p.Tyr410Asn) c.1027T>A (p.Tyr343Asn) | |
X | g.54814671T>C | CA413273851 | MAGED2 | c.1282T>C (p.Tyr428His) c.1228T>C (p.Tyr410His) c.1027T>C (p.Tyr343His) | |
X | g.54814671T>G | CA413273855 | MAGED2 | c.1282T>G (p.Tyr428Asp) c.1228T>G (p.Tyr410Asp) c.1027T>G (p.Tyr343Asp) | |
X | g.54814672A>C | CA413273858 | MAGED2 | c.1283A>C (p.Tyr428Ser) c.1229A>C (p.Tyr410Ser) c.1028A>C (p.Tyr343Ser) | |
X | g.54814672A>G | CA413273860 | MAGED2 | c.1283A>G (p.Tyr428Cys) c.1229A>G (p.Tyr410Cys) c.1028A>G (p.Tyr343Cys) | gnomAD v4 |
X | g.54814672A>T | CA413273863 | MAGED2 | c.1283A>T (p.Tyr428Phe) c.1229A>T (p.Tyr410Phe) c.1028A>T (p.Tyr343Phe) | |
X | g.54814673T>A | CA413273865 | MAGED2 | c.1284T>A (p.Tyr428Ter) c.1230T>A (p.Tyr410Ter) c.1029T>A (p.Tyr343Ter) | |
X | g.54814673T>C | CA516582434 | MAGED2 | c.1284T>C (p.Tyr428=) c.1230T>C (p.Tyr410=) c.1029T>C (p.Tyr343=) | gnomAD v4 |
X | g.54814673T>G | CA413273868 | MAGED2 | c.1284T>G (p.Tyr428Ter) c.1230T>G (p.Tyr410Ter) c.1029T>G (p.Tyr343Ter) | |
X | g.54814674G>A | CA413273872 | MAGED2 | c.1285G>A (p.Ala429Thr) c.1231G>A (p.Ala411Thr) c.1030G>A (p.Ala344Thr) | |
X | g.54814674G>C | CA413273874 | MAGED2 | c.1285G>C (p.Ala429Pro) c.1231G>C (p.Ala411Pro) c.1030G>C (p.Ala344Pro) | |
X | g.54814674G>T | CA413273877 | MAGED2 | c.1285G>T (p.Ala429Ser) c.1231G>T (p.Ala411Ser) c.1030G>T (p.Ala344Ser) | |
X | g.54814675C>A | CA413273880 | MAGED2 | c.1286C>A (p.Ala429Asp) c.1232C>A (p.Ala411Asp) c.1031C>A (p.Ala344Asp) | gnomAD v4 |
X | g.54814675C= | CA2430312957 | MAGED2 | c.1286C= (p.Ala429=) c.1232C= (p.Ala411=) c.1031C= (p.Ala344=) | |
X | g.54814675C>G | CA413273884 | MAGED2 | c.1286C>G (p.Ala429Gly) c.1232C>G (p.Ala411Gly) c.1031C>G (p.Ala344Gly) | |
X | g.54814675C>T | CA413273882 | MAGED2 | c.1286C>T (p.Ala429Val) c.1232C>T (p.Ala411Val) c.1031C>T (p.Ala344Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814676C>A | CA516582438 | MAGED2 | c.1287C>A (p.Ala429=) c.1233C>A (p.Ala411=) c.1032C>A (p.Ala344=) | gnomAD v4 |
X | g.54814676C= | CA2430312958 | MAGED2 | c.1287C= (p.Ala429=) c.1233C= (p.Ala411=) c.1032C= (p.Ala344=) | |
X | g.54814676C>G | CA516582439 | MAGED2 | c.1287C>G (p.Ala429=) c.1233C>G (p.Ala411=) c.1032C>G (p.Ala344=) | |
X | g.54814676C>T | CA328940303 | MAGED2 | c.1287C>T (p.Ala429=) c.1233C>T (p.Ala411=) c.1032C>T (p.Ala344=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814677A>C | CA516582443 | MAGED2 | c.1288A>C (p.Arg430=) c.1234A>C (p.Arg412=) c.1033A>C (p.Arg345=) | |
X | g.54814677A>G | CA413273886 | MAGED2 | c.1288A>G (p.Arg430Gly) c.1234A>G (p.Arg412Gly) c.1033A>G (p.Arg345Gly) | gnomAD v4 |
X | g.54814677A>T | CA413273889 | MAGED2 | c.1288A>T (p.Arg430Ter) c.1234A>T (p.Arg412Ter) c.1033A>T (p.Arg345Ter) | |
X | g.54814678G>A | CA413273893 | MAGED2 | c.1289G>A (p.Arg430Lys) c.1235G>A (p.Arg412Lys) c.1034G>A (p.Arg345Lys) | |
X | g.54814678G>C | CA413273896 | MAGED2 | c.1289G>C (p.Arg430Thr) c.1235G>C (p.Arg412Thr) c.1034G>C (p.Arg345Thr) | |
X | g.54814678G>T | CA413273894 | MAGED2 | c.1289G>T (p.Arg430Ile) c.1235G>T (p.Arg412Ile) c.1034G>T (p.Arg345Ile) | |
X | g.54814679A>C | CA413273900 | MAGED2 | c.1290A>C (p.Arg430Ser) c.1236A>C (p.Arg412Ser) c.1035A>C (p.Arg345Ser) | |
X | g.54814679A>G | CA516582445 | MAGED2 | c.1290A>G (p.Arg430=) c.1236A>G (p.Arg412=) c.1035A>G (p.Arg345=) | |
X | g.54814679A>T | CA413273902 | MAGED2 | c.1290A>T (p.Arg430Ser) c.1236A>T (p.Arg412Ser) c.1035A>T (p.Arg345Ser) | |
X | g.54814680G>A | CA413273905 | MAGED2 | c.1291G>A (p.Val431Ile) c.1237G>A (p.Val413Ile) c.1036G>A (p.Val346Ile) | dbSNP gnomAD v4 |
X | g.54814680G>C | CA413273909 | MAGED2 | c.1291G>C (p.Val431Leu) c.1237G>C (p.Val413Leu) c.1036G>C (p.Val346Leu) | |
X | g.54814680G= | CA2430312959 | MAGED2 | c.1291G= (p.Val431=) c.1237G= (p.Val413=) c.1036G= (p.Val346=) | |
X | g.54814680G>T | CA413273907 | MAGED2 | c.1291G>T (p.Val431Phe) c.1237G>T (p.Val413Phe) c.1036G>T (p.Val346Phe) | |
X | g.54814681T>A | CA413273913 | MAGED2 | c.1292T>A (p.Val431Asp) c.1238T>A (p.Val413Asp) c.1037T>A (p.Val346Asp) | |
X | g.54814681T>C | CA413273914 | MAGED2 | c.1292T>C (p.Val431Ala) c.1238T>C (p.Val413Ala) c.1037T>C (p.Val346Ala) | |
X | g.54814681T>G | CA413273916 | MAGED2 | c.1292T>G (p.Val431Gly) c.1238T>G (p.Val413Gly) c.1037T>G (p.Val346Gly) | gnomAD v4 |
X | g.54814682C>A | CA516582451 | MAGED2 | c.1293C>A (p.Val431=) c.1239C>A (p.Val413=) c.1038C>A (p.Val346=) | dbSNP |
X | g.54814682C= | CA2430312960 | MAGED2 | c.1293C= (p.Val431=) c.1239C= (p.Val413=) c.1038C= (p.Val346=) | |
X | g.54814682C>G | CA516582452 | MAGED2 | c.1293C>G (p.Val431=) c.1239C>G (p.Val413=) c.1038C>G (p.Val346=) | |
X | g.54814682C>T | CA10426872 | MAGED2 | c.1293C>T (p.Val431=) c.1239C>T (p.Val413=) c.1038C>T (p.Val346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54814684_54814685del | CA2579623083 | MAGED2 | c.1295_1296del (p.Pro432GlnfsTer2) c.1241_1242del (p.Pro414GlnfsTer2) c.1040_1041del (p.Pro347GlnfsTer2) | |
X | g.54814683C>A | CA413273922 | MAGED2 | c.1294C>A (p.Pro432Thr) c.1240C>A (p.Pro414Thr) c.1039C>A (p.Pro347Thr) | |
X | g.54814683C>G | CA413273925 | MAGED2 | c.1294C>G (p.Pro432Ala) c.1240C>G (p.Pro414Ala) c.1039C>G (p.Pro347Ala) | |
X | g.54814683C>T | CA413273928 | MAGED2 | c.1294C>T (p.Pro432Ser) c.1240C>T (p.Pro414Ser) c.1039C>T (p.Pro347Ser) | |
X | g.54814684C>A | CA413273931 | MAGED2 | c.1295C>A (p.Pro432His) c.1241C>A (p.Pro414His) c.1040C>A (p.Pro347His) | gnomAD v4 |
X | g.54814684C>G | CA413273934 | MAGED2 | c.1295C>G (p.Pro432Arg) c.1241C>G (p.Pro414Arg) c.1040C>G (p.Pro347Arg) | |
X | g.54814684C>T | CA413273936 | MAGED2 | c.1295C>T (p.Pro432Leu) c.1241C>T (p.Pro414Leu) c.1040C>T (p.Pro347Leu) | |
X | g.54814685C>A | CA516582453 | MAGED2 | c.1296C>A (p.Pro432=) c.1242C>A (p.Pro414=) c.1041C>A (p.Pro347=) | |
X | g.54814685C>G | CA516582454 | MAGED2 | c.1296C>G (p.Pro432=) c.1242C>G (p.Pro414=) c.1041C>G (p.Pro347=) | |
X | g.54814685C>T | CA516582456 | MAGED2 | c.1296C>T (p.Pro432=) c.1242C>T (p.Pro414=) c.1041C>T (p.Pro347=) | |
X | g.54814686A>C | CA413273939 | MAGED2 | c.1297A>C (p.Asn433His) c.1243A>C (p.Asn415His) c.1042A>C (p.Asn348His) | |
X | g.54814686A>G | CA413273942 | MAGED2 | c.1297A>G (p.Asn433Asp) c.1243A>G (p.Asn415Asp) c.1042A>G (p.Asn348Asp) | |
X | g.54814686A>T | CA413273945 | MAGED2 | c.1297A>T (p.Asn433Tyr) c.1243A>T (p.Asn415Tyr) c.1042A>T (p.Asn348Tyr) | |
X | g.54814687A= | CA2430312961 | MAGED2 | c.1298A= (p.Asn433=) c.1244A= (p.Asn415=) c.1043A= (p.Asn348=) | |
X | g.54814687A>C | CA413273948 | MAGED2 | c.1298A>C (p.Asn433Thr) c.1244A>C (p.Asn415Thr) c.1043A>C (p.Asn348Thr) | |
X | g.54814687A>G | CA10426873 | MAGED2 | c.1298A>G (p.Asn433Ser) c.1244A>G (p.Asn415Ser) c.1043A>G (p.Asn348Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814687A>T | CA413273951 | MAGED2 | c.1298A>T (p.Asn433Ile) c.1244A>T (p.Asn415Ile) c.1043A>T (p.Asn348Ile) | |
X | g.54814688T>A | CA413273957 | MAGED2 | c.1299T>A (p.Asn433Lys) c.1245T>A (p.Asn415Lys) c.1044T>A (p.Asn348Lys) | |
X | g.54814688T>C | CA516582459 | MAGED2 | c.1299T>C (p.Asn433=) c.1245T>C (p.Asn415=) c.1044T>C (p.Asn348=) | gnomAD v4 |
X | g.54814688T>G | CA413273959 | MAGED2 | c.1299T>G (p.Asn433Lys) c.1245T>G (p.Asn415Lys) c.1044T>G (p.Asn348Lys) | |
X | g.54814689A>C | CA413273963 | MAGED2 | c.1300A>C (p.Ser434Arg) c.1246A>C (p.Ser416Arg) c.1045A>C (p.Ser349Arg) | |
X | g.54814689A>G | CA413273965 | MAGED2 | c.1300A>G (p.Ser434Gly) c.1246A>G (p.Ser416Gly) c.1045A>G (p.Ser349Gly) | |
X | g.54814689A>T | CA413273967 | MAGED2 | c.1300A>T (p.Ser434Cys) c.1246A>T (p.Ser416Cys) c.1045A>T (p.Ser349Cys) | |
X | g.54814690G>A | CA413273971 | MAGED2 | c.1301G>A (p.Ser434Asn) c.1247G>A (p.Ser416Asn) c.1046G>A (p.Ser349Asn) | |
X | g.54814690G>C | CA413273974 | MAGED2 | c.1301G>C (p.Ser434Thr) c.1247G>C (p.Ser416Thr) c.1046G>C (p.Ser349Thr) | |
X | g.54814690G>T | CA413273976 | MAGED2 | c.1301G>T (p.Ser434Ile) c.1247G>T (p.Ser416Ile) c.1046G>T (p.Ser349Ile) | |
X | g.54814691C>A | CA413273978 | MAGED2 | c.1302C>A (p.Ser434Arg) c.1248C>A (p.Ser416Arg) c.1047C>A (p.Ser349Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814691C= | CA2430312962 | MAGED2 | c.1302C= (p.Ser434=) c.1248C= (p.Ser416=) c.1047C= (p.Ser349=) | |
X | g.54814691C>G | CA413273980 | MAGED2 | c.1302C>G (p.Ser434Arg) c.1248C>G (p.Ser416Arg) c.1047C>G (p.Ser349Arg) | |
X | g.54814691C>T | CA516582462 | MAGED2 | c.1302C>T (p.Ser434=) c.1248C>T (p.Ser416=) c.1047C>T (p.Ser349=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814692A>C | CA413273986 | MAGED2 | c.1303A>C (p.Asn435His) c.1249A>C (p.Asn417His) c.1048A>C (p.Asn350His) | |
X | g.54814692A>G | CA413273985 | MAGED2 | c.1303A>G (p.Asn435Asp) c.1249A>G (p.Asn417Asp) c.1048A>G (p.Asn350Asp) | |
X | g.54814692A>T | CA413273983 | MAGED2 | c.1303A>T (p.Asn435Tyr) c.1249A>T (p.Asn417Tyr) c.1048A>T (p.Asn350Tyr) | |
X | g.54814693A= | CA2430312963 | MAGED2 | c.1304A= (p.Asn435=) c.1250A= (p.Asn417=) c.1049A= (p.Asn350=) | |
X | g.54814693A>C | CA413273992 | MAGED2 | c.1304A>C (p.Asn435Thr) c.1250A>C (p.Asn417Thr) c.1049A>C (p.Asn350Thr) | |
X | g.54814693A>G | CA10426874 | MAGED2 | c.1304A>G (p.Asn435Ser) c.1250A>G (p.Asn417Ser) c.1049A>G (p.Asn350Ser) | dbSNP ExAC |
X | g.54814693A>T | CA413273990 | MAGED2 | c.1304A>T (p.Asn435Ile) c.1250A>T (p.Asn417Ile) c.1049A>T (p.Asn350Ile) | |
X | g.54814694T>A | CA413273994 | MAGED2 | c.1305T>A (p.Asn435Lys) c.1251T>A (p.Asn417Lys) c.1050T>A (p.Asn350Lys) | |
X | g.54814694T>C | CA516582467 | MAGED2 | c.1305T>C (p.Asn435=) c.1251T>C (p.Asn417=) c.1050T>C (p.Asn350=) | |
X | g.54814694T>G | CA413273996 | MAGED2 | c.1305T>G (p.Asn435Lys) c.1251T>G (p.Asn417Lys) c.1050T>G (p.Asn350Lys) | |
X | g.54814695C>A | CA413273998 | MAGED2 | c.1306C>A (p.Pro436Thr) c.1252C>A (p.Pro418Thr) c.1051C>A (p.Pro351Thr) | gnomAD v4 |
X | g.54814695C= | CA2430312964 | MAGED2 | c.1306C= (p.Pro436=) c.1252C= (p.Pro418=) c.1051C= (p.Pro351=) | |
X | g.54814695C>G | CA413274000 | MAGED2 | c.1306C>G (p.Pro436Ala) c.1252C>G (p.Pro418Ala) c.1051C>G (p.Pro351Ala) | |
X | g.54814695C>T | CA10426875 | MAGED2 | c.1306C>T (p.Pro436Ser) c.1252C>T (p.Pro418Ser) c.1051C>T (p.Pro351Ser) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.54814699del | CA2693856256 | MAGED2 | c.1310del (p.Pro437LeufsTer18) c.1256del (p.Pro419LeufsTer18) c.1055del (p.Pro352LeufsTer18) | gnomAD v4 |
X | g.54814696C>A | CA413274003 | MAGED2 | c.1307C>A (p.Pro436His) c.1253C>A (p.Pro418His) c.1052C>A (p.Pro351His) | gnomAD v4 |
X | g.54814696C>G | CA413274007 | MAGED2 | c.1307C>G (p.Pro436Arg) c.1253C>G (p.Pro418Arg) c.1052C>G (p.Pro351Arg) | |
X | g.54814696C>T | CA413274005 | MAGED2 | c.1307C>T (p.Pro436Leu) c.1253C>T (p.Pro418Leu) c.1052C>T (p.Pro351Leu) | |
X | g.54814697C>A | CA10426876 | MAGED2 | c.1308C>A (p.Pro436=) c.1254C>A (p.Pro418=) c.1053C>A (p.Pro351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814697C= | CA2430312965 | MAGED2 | c.1308C= (p.Pro436=) c.1254C= (p.Pro418=) c.1053C= (p.Pro351=) | |
X | g.54814697C>G | CA516582473 | MAGED2 | c.1308C>G (p.Pro436=) c.1254C>G (p.Pro418=) c.1053C>G (p.Pro351=) | |
X | g.54814697C>T | CA516582471 | MAGED2 | c.1308C>T (p.Pro436=) c.1254C>T (p.Pro418=) c.1053C>T (p.Pro351=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814698C>A | CA413274008 | MAGED2 | c.1309C>A (p.Pro437Thr) c.1255C>A (p.Pro419Thr) c.1054C>A (p.Pro352Thr) | |
X | g.54814698C>G | CA413274009 | MAGED2 | c.1309C>G (p.Pro437Ala) c.1255C>G (p.Pro419Ala) c.1054C>G (p.Pro352Ala) | |
X | g.54814698C>T | CA413274011 | MAGED2 | c.1309C>T (p.Pro437Ser) c.1255C>T (p.Pro419Ser) c.1054C>T (p.Pro352Ser) | COSMIC |
X | g.54814699C>A | CA413274013 | MAGED2 | c.1310C>A (p.Pro437His) c.1256C>A (p.Pro419His) c.1055C>A (p.Pro352His) | gnomAD v4 |
X | g.54814699C>G | CA413274017 | MAGED2 | c.1310C>G (p.Pro437Arg) c.1256C>G (p.Pro419Arg) c.1055C>G (p.Pro352Arg) | |
X | g.54814699C>T | CA413274015 | MAGED2 | c.1310C>T (p.Pro437Leu) c.1256C>T (p.Pro419Leu) c.1055C>T (p.Pro352Leu) | |
X | g.54814700T>A | CA516582479 | MAGED2 | c.1311T>A (p.Pro437=) c.1257T>A (p.Pro419=) c.1056T>A (p.Pro352=) | |
X | g.54814700T>C | CA516582480 | MAGED2 | c.1311T>C (p.Pro437=) c.1257T>C (p.Pro419=) c.1056T>C (p.Pro352=) | |
X | g.54814700T>G | CA516582481 | MAGED2 | c.1311T>G (p.Pro437=) c.1257T>G (p.Pro419=) c.1056T>G (p.Pro352=) | |
X | g.54814701G>A | CA413274019 | MAGED2 | c.1312G>A (p.Glu438Lys) c.1258G>A (p.Glu420Lys) c.1057G>A (p.Glu353Lys) | |
X | g.54814701G>C | CA413274021 | MAGED2 | c.1312G>C (p.Glu438Gln) c.1258G>C (p.Glu420Gln) c.1057G>C (p.Glu353Gln) | |
X | g.54814701G>T | CA413274023 | MAGED2 | c.1312G>T (p.Glu438Ter) c.1258G>T (p.Glu420Ter) c.1057G>T (p.Glu353Ter) | |
X | g.54814702A>C | CA413274025 | MAGED2 | c.1313A>C (p.Glu438Ala) c.1259A>C (p.Glu420Ala) c.1058A>C (p.Glu353Ala) | |
X | g.54814702A>G | CA413274027 | MAGED2 | c.1313A>G (p.Glu438Gly) c.1259A>G (p.Glu420Gly) c.1058A>G (p.Glu353Gly) | |
X | g.54814702A>T | CA413274028 | MAGED2 | c.1313A>T (p.Glu438Val) c.1259A>T (p.Glu420Val) c.1058A>T (p.Glu353Val) | |
X | g.54814703A>C | CA413274030 | MAGED2 | c.1314A>C (p.Glu438Asp) c.1260A>C (p.Glu420Asp) c.1059A>C (p.Glu353Asp) | |
X | g.54814703A>G | CA516582485 | MAGED2 | c.1314A>G (p.Glu438=) c.1260A>G (p.Glu420=) c.1059A>G (p.Glu353=) | |
X | g.54814703A>T | CA413274032 | MAGED2 | c.1314A>T (p.Glu438Asp) c.1260A>T (p.Glu420Asp) c.1059A>T (p.Glu353Asp) | |
X | g.54814704T>A | CA413274033 | MAGED2 | c.1315T>A (p.Tyr439Asn) c.1261T>A (p.Tyr421Asn) c.1060T>A (p.Tyr354Asn) | |
X | g.54814704T>C | CA413274035 | MAGED2 | c.1315T>C (p.Tyr439His) c.1261T>C (p.Tyr421His) c.1060T>C (p.Tyr354His) | |
X | g.54814704T>G | CA413274037 | MAGED2 | c.1315T>G (p.Tyr439Asp) c.1261T>G (p.Tyr421Asp) c.1060T>G (p.Tyr354Asp) | |
X | g.54814705A= | CA2430312966 | MAGED2 | c.1316A= (p.Tyr439=) c.1262A= (p.Tyr421=) c.1061A= (p.Tyr354=) | |
X | g.54814705A>C | CA413274041 | MAGED2 | c.1316A>C (p.Tyr439Ser) c.1262A>C (p.Tyr421Ser) c.1061A>C (p.Tyr354Ser) | |
X | g.54814705A>G | CA413274043 | MAGED2 | c.1316A>G (p.Tyr439Cys) c.1262A>G (p.Tyr421Cys) c.1061A>G (p.Tyr354Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54814705A>T | CA413274039 | MAGED2 | c.1316A>T (p.Tyr439Phe) c.1262A>T (p.Tyr421Phe) c.1061A>T (p.Tyr354Phe) | |
X | g.54814706T>A | CA413274045 | MAGED2 | c.1317T>A (p.Tyr439Ter) c.1263T>A (p.Tyr421Ter) c.1062T>A (p.Tyr354Ter) | |
X | g.54814706T>C | CA516582487 | MAGED2 | c.1317T>C (p.Tyr439=) c.1263T>C (p.Tyr421=) c.1062T>C (p.Tyr354=) | dbSNP gnomAD v4 |
X | g.54814706T>G | CA413274047 | MAGED2 | c.1317T>G (p.Tyr439Ter) c.1263T>G (p.Tyr421Ter) c.1062T>G (p.Tyr354Ter) | |
X | g.54814706T= | CA2430312967 | MAGED2 | c.1317T= (p.Tyr439=) c.1263T= (p.Tyr421=) c.1062T= (p.Tyr354=) | |
X | g.54814707G>A | CA413274050 | MAGED2 | c.1318G>A (p.Glu440Lys) c.1264G>A (p.Glu422Lys) c.1063G>A (p.Glu355Lys) | |
X | g.54814707G>C | CA413274051 | MAGED2 | c.1318G>C (p.Glu440Gln) c.1264G>C (p.Glu422Gln) c.1063G>C (p.Glu355Gln) | |
X | g.54814707G>T | CA413274053 | MAGED2 | c.1318G>T (p.Glu440Ter) c.1264G>T (p.Glu422Ter) c.1063G>T (p.Glu355Ter) | |
X | g.54814708A>C | CA413274056 | MAGED2 | c.1319A>C (p.Glu440Ala) c.1265A>C (p.Glu422Ala) c.1064A>C (p.Glu355Ala) | |
X | g.54814708A>G | CA413274057 | MAGED2 | c.1319A>G (p.Glu440Gly) c.1265A>G (p.Glu422Gly) c.1064A>G (p.Glu355Gly) | |
X | g.54814708A>T | CA413274059 | MAGED2 | c.1319A>T (p.Glu440Val) c.1265A>T (p.Glu422Val) c.1064A>T (p.Glu355Val) | |
X | g.54814709G>A | CA516582489 | MAGED2 | c.1320G>A (p.Glu440=) c.1266G>A (p.Glu422=) c.1065G>A (p.Glu355=) | |
X | g.54814709G>C | CA413274060 | MAGED2 | c.1320G>C (p.Glu440Asp) c.1266G>C (p.Glu422Asp) c.1065G>C (p.Glu355Asp) | dbSNP |
X | g.54814709G= | CA2430312968 | MAGED2 | c.1320G= (p.Glu440=) c.1266G= (p.Glu422=) c.1065G= (p.Glu355=) | |
X | g.54814709G>T | CA413274061 | MAGED2 | c.1320G>T (p.Glu440Asp) c.1266G>T (p.Glu422Asp) c.1065G>T (p.Glu355Asp) | |
X | g.54814710T>A | CA413274064 | MAGED2 | c.1321T>A (p.Phe441Ile) c.1267T>A (p.Phe423Ile) c.1066T>A (p.Phe356Ile) | |
X | g.54814710T>C | CA413274065 | MAGED2 | c.1321T>C (p.Phe441Leu) c.1267T>C (p.Phe423Leu) c.1066T>C (p.Phe356Leu) | |
X | g.54814710T>G | CA413274067 | MAGED2 | c.1321T>G (p.Phe441Val) c.1267T>G (p.Phe423Val) c.1066T>G (p.Phe356Val) | gnomAD v4 |
X | g.54814711T>A | CA413274071 | MAGED2 | c.1322T>A (p.Phe441Tyr) c.1268T>A (p.Phe423Tyr) c.1067T>A (p.Phe356Tyr) | |
X | g.54814711T>C | CA413274070 | MAGED2 | c.1322T>C (p.Phe441Ser) c.1268T>C (p.Phe423Ser) c.1067T>C (p.Phe356Ser) | |
X | g.54814711T>G | CA413274069 | MAGED2 | c.1322T>G (p.Phe441Cys) c.1268T>G (p.Phe423Cys) c.1067T>G (p.Phe356Cys) | |
X | g.54814712C>A | CA413274074 | MAGED2 | c.1323C>A (p.Phe441Leu) c.1269C>A (p.Phe423Leu) c.1068C>A (p.Phe356Leu) | |
X | g.54814712C>G | CA413274076 | MAGED2 | c.1323C>G (p.Phe441Leu) c.1269C>G (p.Phe423Leu) c.1068C>G (p.Phe356Leu) | |
X | g.54814712C>T | CA516582496 | MAGED2 | c.1323C>T (p.Phe441=) c.1269C>T (p.Phe423=) c.1068C>T (p.Phe356=) | gnomAD v4 |
X | g.54814713T>A | CA413274077 | MAGED2 | c.1324T>A (p.Phe442Ile) c.1270T>A (p.Phe424Ile) c.1069T>A (p.Phe357Ile) | |
X | g.54814713T>C | CA413274079 | MAGED2 | c.1324T>C (p.Phe442Leu) c.1270T>C (p.Phe424Leu) c.1069T>C (p.Phe357Leu) | |
X | g.54814713T>G | CA413274081 | MAGED2 | c.1324T>G (p.Phe442Val) c.1270T>G (p.Phe424Val) c.1069T>G (p.Phe357Val) | |
X | g.54814714T>A | CA413274083 | MAGED2 | c.1325T>A (p.Phe442Tyr) c.1271T>A (p.Phe424Tyr) c.1070T>A (p.Phe357Tyr) | |
X | g.54814714T>C | CA413274085 | MAGED2 | c.1325T>C (p.Phe442Ser) c.1271T>C (p.Phe424Ser) c.1070T>C (p.Phe357Ser) | |
X | g.54814714T>G | CA413274087 | MAGED2 | c.1325T>G (p.Phe442Cys) c.1271T>G (p.Phe424Cys) c.1070T>G (p.Phe357Cys) | |
X | g.54814715C>A | CA413274089 | MAGED2 | c.1326C>A (p.Phe442Leu) c.1272C>A (p.Phe424Leu) c.1071C>A (p.Phe357Leu) | |
X | g.54814715C>G | CA413274091 | MAGED2 | c.1326C>G (p.Phe442Leu) c.1272C>G (p.Phe424Leu) c.1071C>G (p.Phe357Leu) | |
X | g.54814715C>T | CA516582499 | MAGED2 | c.1326C>T (p.Phe442=) c.1272C>T (p.Phe424=) c.1071C>T (p.Phe357=) | |
X | g.54814716T>A | CA413274093 | MAGED2 | c.1327T>A (p.Trp443Arg) c.1273T>A (p.Trp425Arg) c.1072T>A (p.Trp358Arg) | |
X | g.54814716T>C | CA413274094 | MAGED2 | c.1327T>C (p.Trp443Arg) c.1273T>C (p.Trp425Arg) c.1072T>C (p.Trp358Arg) | |
X | g.54814716T>G | CA413274096 | MAGED2 | c.1327T>G (p.Trp443Gly) c.1273T>G (p.Trp425Gly) c.1072T>G (p.Trp358Gly) | |
X | g.54814717G>A | CA413274100 | MAGED2 | c.1328G>A (p.Trp443Ter) c.1274G>A (p.Trp425Ter) c.1073G>A (p.Trp358Ter) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814717G>C | CA413274101 | MAGED2 | c.1328G>C (p.Trp443Ser) c.1274G>C (p.Trp425Ser) c.1073G>C (p.Trp358Ser) | |
X | g.54814717G= | CA2430312969 | MAGED2 | c.1328G= (p.Trp443=) c.1274G= (p.Trp425=) c.1073G= (p.Trp358=) | |
X | g.54814717G>T | CA413274099 | MAGED2 | c.1328G>T (p.Trp443Leu) c.1274G>T (p.Trp425Leu) c.1073G>T (p.Trp358Leu) | |
X | g.54814718G>A | CA413274104 | MAGED2 | c.1329G>A (p.Trp443Ter) c.1275G>A (p.Trp425Ter) c.1074G>A (p.Trp358Ter) | |
X | g.54814718G>C | CA413274106 | MAGED2 | c.1329G>C (p.Trp443Cys) c.1275G>C (p.Trp425Cys) c.1074G>C (p.Trp358Cys) | |
X | g.54814718G>T | CA413274107 | MAGED2 | c.1329G>T (p.Trp443Cys) c.1275G>T (p.Trp425Cys) c.1074G>T (p.Trp358Cys) | |
X | g.54814719G>A | CA413274109 | MAGED2 | c.1330G>A (p.Gly444Ser) c.1276G>A (p.Gly426Ser) c.1075G>A (p.Gly359Ser) | |
X | g.54814719G>C | CA413274114 | MAGED2 | c.1330G>C (p.Gly444Arg) c.1276G>C (p.Gly426Arg) c.1075G>C (p.Gly359Arg) | |
X | g.54814719G>T | CA413274116 | MAGED2 | c.1330G>T (p.Gly444Cys) c.1276G>T (p.Gly426Cys) c.1075G>T (p.Gly359Cys) | |
X | g.54814720G>A | CA413274118 | MAGED2 | c.1331G>A (p.Gly444Asp) c.1277G>A (p.Gly426Asp) c.1076G>A (p.Gly359Asp) | |
X | g.54814720G>C | CA413274120 | MAGED2 | c.1331G>C (p.Gly444Ala) c.1277G>C (p.Gly426Ala) c.1076G>C (p.Gly359Ala) | |
X | g.54814720G>T | CA413274122 | MAGED2 | c.1331G>T (p.Gly444Val) c.1277G>T (p.Gly426Val) c.1076G>T (p.Gly359Val) | |
X | g.54814721C>A | CA516582503 | MAGED2 | c.1332C>A (p.Gly444=) c.1278C>A (p.Gly426=) c.1077C>A (p.Gly359=) | |
X | g.54814721C>G | CA516582504 | MAGED2 | c.1332C>G (p.Gly444=) c.1278C>G (p.Gly426=) c.1077C>G (p.Gly359=) | |
X | g.54814721C>T | CA516582505 | MAGED2 | c.1332C>T (p.Gly444=) c.1278C>T (p.Gly426=) c.1077C>T (p.Gly359=) | |
X | g.54814722C>A | CA413274123 | MAGED2 | c.1333C>A (p.Leu445Met) c.1279C>A (p.Leu427Met) c.1078C>A (p.Leu360Met) | |
X | g.54814722C>G | CA413274125 | MAGED2 | c.1333C>G (p.Leu445Val) c.1279C>G (p.Leu427Val) c.1078C>G (p.Leu360Val) | |
X | g.54814722C>T | CA516582507 | MAGED2 | c.1333C>T (p.Leu445=) c.1279C>T (p.Leu427=) c.1078C>T (p.Leu360=) | |
X | g.54814723T>A | CA413274131 | MAGED2 | c.1334T>A (p.Leu445Gln) c.1280T>A (p.Leu427Gln) c.1079T>A (p.Leu360Gln) | |
X | g.54814723T>C | CA413274129 | MAGED2 | c.1334T>C (p.Leu445Pro) c.1280T>C (p.Leu427Pro) c.1079T>C (p.Leu360Pro) | |
X | g.54814723T>G | CA413274127 | MAGED2 | c.1334T>G (p.Leu445Arg) c.1280T>G (p.Leu427Arg) c.1079T>G (p.Leu360Arg) | |
X | g.54814724G>A | CA516582509 | MAGED2 | c.1335G>A (p.Leu445=) c.1281G>A (p.Leu427=) c.1080G>A (p.Leu360=) | |
X | g.54814724G>C | CA516582510 | MAGED2 | c.1335G>C (p.Leu445=) c.1281G>C (p.Leu427=) c.1080G>C (p.Leu360=) | |
X | g.54814724G>T | CA516582512 | MAGED2 | c.1335G>T (p.Leu445=) c.1281G>T (p.Leu427=) c.1080G>T (p.Leu360=) | |
X | g.54814725C>A | CA413274132 | MAGED2 | c.1336C>A (p.Arg446Ser) c.1282C>A (p.Arg428Ser) c.1081C>A (p.Arg361Ser) | |
X | g.54814725C= | CA2430312970 | MAGED2 | c.1336C= (p.Arg446=) c.1282C= (p.Arg428=) c.1081C= (p.Arg361=) | |
X | g.54814725C>G | CA413274134 | MAGED2 | c.1336C>G (p.Arg446Gly) c.1282C>G (p.Arg428Gly) c.1081C>G (p.Arg361Gly) | |
X | g.54814725C>T | CA10576212 | MAGED2 | c.1336C>T (p.Arg446Cys) c.1282C>T (p.Arg428Cys) c.1081C>T (p.Arg361Cys) | ClinVar dbSNP gnomAD v4 |
X | g.54814726G>A | CA413274137 | MAGED2 | c.1337G>A (p.Arg446His) c.1283G>A (p.Arg428His) c.1082G>A (p.Arg361His) | gnomAD v4 |
X | g.54814726G>C | CA413274138 | MAGED2 | c.1337G>C (p.Arg446Pro) c.1283G>C (p.Arg428Pro) c.1082G>C (p.Arg361Pro) | |
X | g.54814726G>T | CA413274140 | MAGED2 | c.1337G>T (p.Arg446Leu) c.1283G>T (p.Arg428Leu) c.1082G>T (p.Arg361Leu) | |
X | g.54814727C>A | CA516582516 | MAGED2 | c.1338C>A (p.Arg446=) c.1284C>A (p.Arg428=) c.1083C>A (p.Arg361=) | |
X | g.54814727C= | CA2430312971 | MAGED2 | c.1338C= (p.Arg446=) c.1284C= (p.Arg428=) c.1083C= (p.Arg361=) | |
X | g.54814727C>G | CA516582517 | MAGED2 | c.1338C>G (p.Arg446=) c.1284C>G (p.Arg428=) c.1083C>G (p.Arg361=) | |
X | g.54814727C>T | CA516582518 | MAGED2 | c.1338C>T (p.Arg446=) c.1284C>T (p.Arg428=) c.1083C>T (p.Arg361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814728T>A | CA413274142 | MAGED2 | c.1339T>A (p.Ser447Thr) c.1285T>A (p.Ser429Thr) c.1084T>A (p.Ser362Thr) | |
X | g.54814728T>C | CA413274144 | MAGED2 | c.1339T>C (p.Ser447Pro) c.1285T>C (p.Ser429Pro) c.1084T>C (p.Ser362Pro) | |
X | g.54814728T>G | CA413274146 | MAGED2 | c.1339T>G (p.Ser447Ala) c.1285T>G (p.Ser429Ala) c.1084T>G (p.Ser362Ala) | |
X | g.54814729C>A | CA413274148 | MAGED2 | c.1340C>A (p.Ser447Tyr) c.1286C>A (p.Ser429Tyr) c.1085C>A (p.Ser362Tyr) | |
X | g.54814729C>G | CA413274150 | MAGED2 | c.1340C>G (p.Ser447Cys) c.1286C>G (p.Ser429Cys) c.1085C>G (p.Ser362Cys) | |
X | g.54814729C>T | CA413274151 | MAGED2 | c.1340C>T (p.Ser447Phe) c.1286C>T (p.Ser429Phe) c.1085C>T (p.Ser362Phe) | gnomAD v4 |
X | g.54814730T>A | CA516582524 | MAGED2 | c.1341T>A (p.Ser447=) c.1287T>A (p.Ser429=) c.1086T>A (p.Ser362=) | |
X | g.54814730T>C | CA516582523 | MAGED2 | c.1341T>C (p.Ser447=) c.1287T>C (p.Ser429=) c.1086T>C (p.Ser362=) | |
X | g.54814730T>G | CA516582522 | MAGED2 | c.1341T>G (p.Ser447=) c.1287T>G (p.Ser429=) c.1086T>G (p.Ser362=) | |
X | g.54814731T>A | CA413274157 | MAGED2 | c.1342T>A (p.Tyr448Asn) c.1288T>A (p.Tyr430Asn) c.1087T>A (p.Tyr363Asn) | |
X | g.54814731T>C | CA413274156 | MAGED2 | c.1342T>C (p.Tyr448His) c.1288T>C (p.Tyr430His) c.1087T>C (p.Tyr363His) | |
X | g.54814731T>G | CA413274154 | MAGED2 | c.1342T>G (p.Tyr448Asp) c.1288T>G (p.Tyr430Asp) c.1087T>G (p.Tyr363Asp) | |
X | g.54814732A= | CA2430312972 | MAGED2 | c.1343A= (p.Tyr448=) c.1289A= (p.Tyr430=) c.1088A= (p.Tyr363=) | |
X | g.54814732A>C | CA413274159 | MAGED2 | c.1343A>C (p.Tyr448Ser) c.1289A>C (p.Tyr430Ser) c.1088A>C (p.Tyr363Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814732A>G | CA413274161 | MAGED2 | c.1343A>G (p.Tyr448Cys) c.1289A>G (p.Tyr430Cys) c.1088A>G (p.Tyr363Cys) | |
X | g.54814732A>T | CA413274160 | MAGED2 | c.1343A>T (p.Tyr448Phe) c.1289A>T (p.Tyr430Phe) c.1088A>T (p.Tyr363Phe) | |
X | g.54814733C>A | CA413274162 | MAGED2 | c.1344C>A (p.Tyr448Ter) c.1290C>A (p.Tyr430Ter) c.1089C>A (p.Tyr363Ter) | COSMIC |
X | g.54814733C>G | CA413274164 | MAGED2 | c.1344C>G (p.Tyr448Ter) c.1290C>G (p.Tyr430Ter) c.1089C>G (p.Tyr363Ter) | |
X | g.54814733C>T | CA516582529 | MAGED2 | c.1344C>T (p.Tyr448=) c.1290C>T (p.Tyr430=) c.1089C>T (p.Tyr363=) | |
X | g.54814734T>A | CA413274167 | MAGED2 | c.1345T>A (p.Tyr449Asn) c.1291T>A (p.Tyr431Asn) c.1090T>A (p.Tyr364Asn) | |
X | g.54814734T>C | CA413274168 | MAGED2 | c.1345T>C (p.Tyr449His) c.1291T>C (p.Tyr431His) c.1090T>C (p.Tyr364His) | |
X | g.54814734T>G | CA413274170 | MAGED2 | c.1345T>G (p.Tyr449Asp) c.1291T>G (p.Tyr431Asp) c.1090T>G (p.Tyr364Asp) | |
X | g.54814735A= | CA2430312973 | MAGED2 | c.1346A= (p.Tyr449=) c.1292A= (p.Tyr431=) c.1091A= (p.Tyr364=) | |
X | g.54814735A>C | CA413274172 | MAGED2 | c.1346A>C (p.Tyr449Ser) c.1292A>C (p.Tyr431Ser) c.1091A>C (p.Tyr364Ser) | |
X | g.54814735A>G | CA10426877 | MAGED2 | c.1346A>G (p.Tyr449Cys) c.1292A>G (p.Tyr431Cys) c.1091A>G (p.Tyr364Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814735A>T | CA413274174 | MAGED2 | c.1346A>T (p.Tyr449Phe) c.1292A>T (p.Tyr431Phe) c.1091A>T (p.Tyr364Phe) | |
X | g.54814736T>A | CA413274176 | MAGED2 | c.1347T>A (p.Tyr449Ter) c.1293T>A (p.Tyr431Ter) c.1092T>A (p.Tyr364Ter) | |
X | g.54814736T>C | CA516582533 | MAGED2 | c.1347T>C (p.Tyr449=) c.1293T>C (p.Tyr431=) c.1092T>C (p.Tyr364=) | |
X | g.54814736T>G | CA413274178 | MAGED2 | c.1347T>G (p.Tyr449Ter) c.1293T>G (p.Tyr431Ter) c.1092T>G (p.Tyr364Ter) | |
X | g.54814737G>A | CA413274180 | MAGED2 | c.1348G>A (p.Glu450Lys) c.1294G>A (p.Glu432Lys) c.1093G>A (p.Glu365Lys) | COSMIC |
X | g.54814737G>C | CA413274181 | MAGED2 | c.1348G>C (p.Glu450Gln) c.1294G>C (p.Glu432Gln) c.1093G>C (p.Glu365Gln) | |
X | g.54814737G>T | CA413274183 | MAGED2 | c.1348G>T (p.Glu450Ter) c.1294G>T (p.Glu432Ter) c.1093G>T (p.Glu365Ter) | |
X | g.54814739_54814740del | CA2579623084 | MAGED2 | c.1350_1351del (p.Glu450AspfsTer?) c.1296_1297del (p.Glu432AspfsTer?) c.1095_1096del (p.Glu365AspfsTer?) | |
X | g.54814738A>C | CA413274189 | MAGED2 | c.1349A>C (p.Glu450Ala) c.1295A>C (p.Glu432Ala) c.1094A>C (p.Glu365Ala) | |
X | g.54814738A>G | CA413274185 | MAGED2 | c.1349A>G (p.Glu450Gly) c.1295A>G (p.Glu432Gly) c.1094A>G (p.Glu365Gly) | |
X | g.54814738A>T | CA413274187 | MAGED2 | c.1349A>T (p.Glu450Val) c.1295A>T (p.Glu432Val) c.1094A>T (p.Glu365Val) | |
X | g.54814739G>A | CA516582534 | MAGED2 | c.1350G>A (p.Glu450=) c.1296G>A (p.Glu432=) c.1095G>A (p.Glu365=) | |
X | g.54814739G>C | CA413274191 | MAGED2 | c.1350G>C (p.Glu450Asp) c.1296G>C (p.Glu432Asp) c.1095G>C (p.Glu365Asp) | |
X | g.54814739G>T | CA413274193 | MAGED2 | c.1350G>T (p.Glu450Asp) c.1296G>T (p.Glu432Asp) c.1095G>T (p.Glu365Asp) | COSMIC |
X | g.54814740A>C | CA413274194 | MAGED2 | c.1351A>C (p.Thr451Pro) c.1297A>C (p.Thr433Pro) c.1096A>C (p.Thr366Pro) | |
X | g.54814740A>G | CA413274195 | MAGED2 | c.1351A>G (p.Thr451Ala) c.1297A>G (p.Thr433Ala) c.1096A>G (p.Thr366Ala) | |
X | g.54814740A>T | CA413274197 | MAGED2 | c.1351A>T (p.Thr451Ser) c.1297A>T (p.Thr433Ser) c.1096A>T (p.Thr366Ser) | |
X | g.54814741C>A | CA413274199 | MAGED2 | c.1352C>A (p.Thr451Asn) c.1298C>A (p.Thr433Asn) c.1097C>A (p.Thr366Asn) | ClinVar dbSNP |
X | g.54814741C>G | CA413274201 | MAGED2 | c.1352C>G (p.Thr451Ser) c.1298C>G (p.Thr433Ser) c.1097C>G (p.Thr366Ser) | |
X | g.54814741C>T | CA413274202 | MAGED2 | c.1352C>T (p.Thr451Ile) c.1298C>T (p.Thr433Ile) c.1097C>T (p.Thr366Ile) | |
X | g.54814742C>A | CA516582535 | MAGED2 | c.1353C>A (p.Thr451=) c.1299C>A (p.Thr433=) c.1098C>A (p.Thr366=) | |
X | g.54814742C>G | CA516582536 | MAGED2 | c.1353C>G (p.Thr451=) c.1299C>G (p.Thr433=) c.1098C>G (p.Thr366=) | |
X | g.54814742C>T | CA516582537 | MAGED2 | c.1353C>T (p.Thr451=) c.1299C>T (p.Thr433=) c.1098C>T (p.Thr366=) |