| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.25812689C>A | CA416759231 | SELENON | c.1113C>A (p.Val371=) c.1182C>A (p.Val394=) c.1284C>A (p.Val428=) n.255+810C>A c.-289C>A (n.-289C>A) | |
| 1 | g.25812689C= | CA1159807863 | SELENON | c.1113C= (p.Val371=) c.1182C= (p.Val394=) c.1284C= (p.Val428=) n.255+810C= c.-289C= (n.-289C=) | |
| 1 | g.25812689C>G | CA416759232 | SELENON | c.1113C>G (p.Val371=) c.1182C>G (p.Val394=) c.1284C>G (p.Val428=) n.255+810C>G c.-289C>G (n.-289C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.25812689C>T | CA416759233 | SELENON | c.1113C>T (p.Val371=) c.1182C>T (p.Val394=) c.1284C>T (p.Val428=) n.255+810C>T c.-289C>T (n.-289C>T) | |
| 1 | g.25812691_25812693del | CA2644201140 | SELENON | c.1115_1117del (p.Ser372del) c.1184_1186del (p.Ser395del) c.1286_1288del (p.Ser429del) n.255+812_255+814del c.-287_-285del (n.-287_-285del) | gnomAD v4 |
| 1 | g.25812690T>A | CA339117673 | SELENON | c.1114T>A (p.Ser372Thr) c.1183T>A (p.Ser395Thr) c.1285T>A (p.Ser429Thr) n.255+811T>A c.-288T>A (n.-288T>A) | |
| 1 | g.25812690T>C | CA339117672 | SELENON | c.1114T>C (p.Ser372Pro) c.1183T>C (p.Ser395Pro) c.1285T>C (p.Ser429Pro) n.255+811T>C c.-288T>C (n.-288T>C) | |
| 1 | g.25812690T>G | CA339117671 | SELENON | c.1114T>G (p.Ser372Ala) c.1183T>G (p.Ser395Ala) c.1285T>G (p.Ser429Ala) n.255+811T>G c.-288T>G (n.-288T>G) | |
| 1 | g.25812691C>A | CA339117674 | SELENON | c.1115C>A (p.Ser372Tyr) c.1184C>A (p.Ser395Tyr) c.1286C>A (p.Ser429Tyr) n.255+812C>A c.-287C>A (n.-287C>A) | |
| 1 | g.25812691C= | CA1159807864 | SELENON | c.1115C= (p.Ser372=) c.1184C= (p.Ser395=) c.1286C= (p.Ser429=) n.255+812C= c.-287C= (n.-287C=) | |
| 1 | g.25812691C>G | CA339117675 | SELENON | c.1115C>G (p.Ser372Cys) c.1184C>G (p.Ser395Cys) c.1286C>G (p.Ser429Cys) n.255+812C>G c.-287C>G (n.-287C>G) | |
| 1 | g.25812691C>T | CA339117676 | SELENON | c.1115C>T (p.Ser372Phe) c.1184C>T (p.Ser395Phe) c.1286C>T (p.Ser429Phe) n.255+812C>T c.-287C>T (n.-287C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.25812692C>A | CA416759234 | SELENON | c.1116C>A (p.Ser372=) c.1185C>A (p.Ser395=) c.1287C>A (p.Ser429=) n.255+813C>A c.-286C>A (n.-286C>A) | |
| 1 | g.25812692C>G | CA416759235 | SELENON | c.1116C>G (p.Ser372=) c.1185C>G (p.Ser395=) c.1287C>G (p.Ser429=) n.255+813C>G c.-286C>G (n.-286C>G) | |
| 1 | g.25812692C>T | CA416759236 | SELENON | c.1116C>T (p.Ser372=) c.1185C>T (p.Ser395=) c.1287C>T (p.Ser429=) n.255+813C>T c.-286C>T (n.-286C>T) | |
| 1 | g.25812693T>A | CA339117677 | SELENON | c.1117T>A (p.Tyr373Asn) c.1186T>A (p.Tyr396Asn) c.1288T>A (p.Tyr430Asn) n.255+814T>A c.-285T>A (n.-285T>A) | |
| 1 | g.25812693T>C | CA339117678 | SELENON | c.1117T>C (p.Tyr373His) c.1186T>C (p.Tyr396His) c.1288T>C (p.Tyr430His) n.255+814T>C c.-285T>C (n.-285T>C) | |
| 1 | g.25812693T>G | CA339117679 | SELENON | c.1117T>G (p.Tyr373Asp) c.1186T>G (p.Tyr396Asp) c.1288T>G (p.Tyr430Asp) n.255+814T>G c.-285T>G (n.-285T>G) | |
| 1 | g.25812693T= | CA1159807865 | SELENON | c.1117T= (p.Tyr373=) c.1186T= (p.Tyr396=) c.1288T= (p.Tyr430=) n.255+814T= c.-285T= (n.-285T=) | |
| 1 | g.25812694A= | CA1159807866 | SELENON | c.1118A= (p.Tyr373=) c.1187A= (p.Tyr396=) c.1289A= (p.Tyr430=) n.255+815A= c.-284A= (n.-284A=) | |
| 1 | g.25812694A>C | CA339117680 | SELENON | c.1118A>C (p.Tyr373Ser) c.1187A>C (p.Tyr396Ser) c.1289A>C (p.Tyr430Ser) n.255+815A>C c.-284A>C (n.-284A>C) | gnomAD v4 |
| 1 | g.25812694A>G | CA339117681 | SELENON | c.1118A>G (p.Tyr373Cys) c.1187A>G (p.Tyr396Cys) c.1289A>G (p.Tyr430Cys) n.255+815A>G c.-284A>G (n.-284A>G) | |
| 1 | g.25812694A>T | CA19698935 | SELENON | c.1118A>T (p.Tyr373Phe) c.1187A>T (p.Tyr396Phe) c.1289A>T (p.Tyr430Phe) n.255+815A>T c.-284A>T (n.-284A>T) | dbSNP |
| 1 | g.25812694dup | CA645372407 | SELENON | c.1118dup (p.Tyr373Ter) c.1187dup (p.Tyr396Ter) c.1289dup (p.Tyr430Ter) n.255+815dup c.-284dup (n.-284dup) | ClinVar dbSNP |
| 1 | g.25812695C>A | CA339117682 | SELENON | c.1119C>A (p.Tyr373Ter) c.1188C>A (p.Tyr396Ter) c.1290C>A (p.Tyr430Ter) n.255+816C>A c.-283C>A (n.-283C>A) | |
| 1 | g.25812695C>G | CA339117683 | SELENON | c.1119C>G (p.Tyr373Ter) c.1188C>G (p.Tyr396Ter) c.1290C>G (p.Tyr430Ter) n.255+816C>G c.-283C>G (n.-283C>G) | |
| 1 | g.25812695C>T | CA416759237 | SELENON | c.1119C>T (p.Tyr373=) c.1188C>T (p.Tyr396=) c.1290C>T (p.Tyr430=) n.255+816C>T c.-283C>T (n.-283C>T) | |
| 1 | g.25812696T>A | CA339117684 | SELENON | c.1120T>A (p.Leu374Met) c.1189T>A (p.Leu397Met) c.1291T>A (p.Leu431Met) n.255+817T>A c.-282T>A (n.-282T>A) | |
| 1 | g.25812696T>C | CA416759238 | SELENON | c.1120T>C (p.Leu374=) c.1189T>C (p.Leu397=) c.1291T>C (p.Leu431=) n.255+817T>C c.-282T>C (n.-282T>C) | |
| 1 | g.25812696T>G | CA339117685 | SELENON | c.1120T>G (p.Leu374Val) c.1189T>G (p.Leu397Val) c.1291T>G (p.Leu431Val) n.255+817T>G c.-282T>G (n.-282T>G) | |
| 1 | g.25812697T>A | CA339117687 | SELENON | c.1121T>A (p.Leu374Ter) c.1190T>A (p.Leu397Ter) c.1292T>A (p.Leu431Ter) n.255+818T>A c.-281T>A (n.-281T>A) | |
| 1 | g.25812697T>C | CA339117688 | SELENON | c.1121T>C (p.Leu374Ser) c.1190T>C (p.Leu397Ser) c.1292T>C (p.Leu431Ser) n.255+818T>C c.-281T>C (n.-281T>C) | |
| 1 | g.25812697T>G | CA339117686 | SELENON | c.1121T>G (p.Leu374Trp) c.1190T>G (p.Leu397Trp) c.1292T>G (p.Leu431Trp) n.255+818T>G c.-281T>G (n.-281T>G) | |
| 1 | g.25812698del | CA2586966315 | SELENON | c.1122del (p.Leu374PhefsTer?) c.1191del (p.Leu397PhefsTer?) c.1293del (p.Leu431PhefsTer?) n.255+819del c.-280del (n.-280del) | |
| 1 | g.25812698G>A | CA416759239 | SELENON | c.1122G>A (p.Leu374=) c.1191G>A (p.Leu397=) c.1293G>A (p.Leu431=) n.255+819G>A c.-280G>A (n.-280G>A) | |
| 1 | g.25812698G>C | CA339117689 | SELENON | c.1122G>C (p.Leu374Phe) c.1191G>C (p.Leu397Phe) c.1293G>C (p.Leu431Phe) n.255+819G>C c.-280G>C (n.-280G>C) | |
| 1 | g.25812698G>T | CA339117690 | SELENON | c.1122G>T (p.Leu374Phe) c.1191G>T (p.Leu397Phe) c.1293G>T (p.Leu431Phe) n.255+819G>T c.-280G>T (n.-280G>T) | |
| 1 | g.25812699C>A | CA339117691 | SELENON | c.1123C>A (p.Pro375Thr) c.1192C>A (p.Pro398Thr) c.1294C>A (p.Pro432Thr) n.255+820C>A c.-279C>A (n.-279C>A) | gnomAD v4 |
| 1 | g.25812699C>G | CA339117692 | SELENON | c.1123C>G (p.Pro375Ala) c.1192C>G (p.Pro398Ala) c.1294C>G (p.Pro432Ala) n.255+820C>G c.-279C>G (n.-279C>G) | |
| 1 | g.25812699C>T | CA339117693 | SELENON | c.1123C>T (p.Pro375Ser) c.1192C>T (p.Pro398Ser) c.1294C>T (p.Pro432Ser) n.255+820C>T c.-279C>T (n.-279C>T) | gnomAD v4 |
| 1 | g.25812700C>A | CA339117694 | SELENON | c.1124C>A (p.Pro375Gln) c.1193C>A (p.Pro398Gln) c.1295C>A (p.Pro432Gln) n.255+821C>A c.-278C>A (n.-278C>A) | |
| 1 | g.25812700C= | CA1143382611 | SELENON | c.1124C= (p.Pro375=) c.1193C= (p.Pro398=) c.1295C= (p.Pro432=) n.255+821C= c.-278C= (n.-278C=) | |
| 1 | g.25812700C>G | CA339117695 | SELENON | c.1124C>G (p.Pro375Arg) c.1193C>G (p.Pro398Arg) c.1295C>G (p.Pro432Arg) n.255+821C>G c.-278C>G (n.-278C>G) | |
| 1 | g.25812700C>T | CA696822 | SELENON | c.1124C>T (p.Pro375Leu) c.1193C>T (p.Pro398Leu) c.1295C>T (p.Pro432Leu) n.255+821C>T c.-278C>T (n.-278C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.25812701G>A | CA696823 | SELENON | c.1125G>A (p.Pro375=) c.1194G>A (p.Pro398=) c.1296G>A (p.Pro432=) n.255+822G>A c.-277G>A (n.-277G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.25812701G>C | CA416759240 | SELENON | c.1125G>C (p.Pro375=) c.1194G>C (p.Pro398=) c.1296G>C (p.Pro432=) n.255+822G>C c.-277G>C (n.-277G>C) | |
| 1 | g.25812701G= | CA1159807867 | SELENON | c.1125G= (p.Pro375=) c.1194G= (p.Pro398=) c.1296G= (p.Pro432=) n.255+822G= c.-277G= (n.-277G=) | |
| 1 | g.25812701G>T | CA416759241 | SELENON | c.1125G>T (p.Pro375=) c.1194G>T (p.Pro398=) c.1296G>T (p.Pro432=) n.255+822G>T c.-277G>T (n.-277G>T) | |
| 1 | g.25812702T>A | CA339117696 | SELENON | c.1126T>A (p.Phe376Ile) c.1195T>A (p.Phe399Ile) c.1297T>A (p.Phe433Ile) n.255+823T>A c.-276T>A (n.-276T>A) | |
| 1 | g.25812702T>C | CA339117697 | SELENON | c.1126T>C (p.Phe376Leu) c.1195T>C (p.Phe399Leu) c.1297T>C (p.Phe433Leu) n.255+823T>C c.-276T>C (n.-276T>C) |