| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39727784C>T | CA399313203 | ERBB2 | c.3508C>T (p.Pro1170Ser) c.3418C>T (p.Pro1140Ser) c.2680C>T (p.Pro894Ser) c.3463C>T (p.Pro1155Ser) c.*3298C>T (n.*3298C>T) c.*87C>T (n.*87C>T) n.3832C>T c.3646C>T (p.Pro1216Ser) c.3601C>T (p.Pro1201Ser) c.3556C>T (p.Pro1186Ser) c.3625C>T (p.Pro1209Ser) c.3610C>T (p.Pro1204Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3538C>T (p.Pro1180Ser) c.3529C>T (p.Pro1177Ser) c.3505C>T (p.Pro1169Ser) c.3499C>T (p.Pro1167Ser) c.3472C>T (p.Pro1158Ser) c.3466C>T (p.Pro1156Ser) c.3460C>T (p.Pro1154Ser) c.3421C>T (p.Pro1141Ser) c.3409C>T (p.Pro1137Ser) c.3352C>T (p.Pro1118Ser) c.3328C>T (p.Pro1110Ser) c.3322C>T (p.Pro1108Ser) c.3304C>T (p.Pro1102Ser) c.3250C>T (p.Pro1084Ser) c.2557C>T (p.Pro853Ser) c.2470C>T (p.Pro824Ser) n.3746C>T | dbSNP |
| 17 | g.39727784C>G | CA158663 | ERBB2 | c.3508C>G (p.Pro1170Ala) c.3418C>G (p.Pro1140Ala) c.2680C>G (p.Pro894Ala) c.3463C>G (p.Pro1155Ala) c.*3298C>G (n.*3298C>G) c.*87C>G (n.*87C>G) n.3832C>G c.3646C>G (p.Pro1216Ala) c.3601C>G (p.Pro1201Ala) c.3556C>G (p.Pro1186Ala) c.3625C>G (p.Pro1209Ala) c.3610C>G (p.Pro1204Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3538C>G (p.Pro1180Ala) c.3529C>G (p.Pro1177Ala) c.3505C>G (p.Pro1169Ala) c.3499C>G (p.Pro1167Ala) c.3472C>G (p.Pro1158Ala) c.3466C>G (p.Pro1156Ala) c.3460C>G (p.Pro1154Ala) c.3421C>G (p.Pro1141Ala) c.3409C>G (p.Pro1137Ala) c.3352C>G (p.Pro1118Ala) c.3328C>G (p.Pro1110Ala) c.3322C>G (p.Pro1108Ala) c.3304C>G (p.Pro1102Ala) c.3250C>G (p.Pro1084Ala) c.2557C>G (p.Pro853Ala) c.2470C>G (p.Pro824Ala) n.3746C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39727784C>A | CA399313199 | ERBB2 | c.3508C>A (p.Pro1170Thr) c.3418C>A (p.Pro1140Thr) c.2680C>A (p.Pro894Thr) c.3463C>A (p.Pro1155Thr) c.*3298C>A (n.*3298C>A) c.*87C>A (n.*87C>A) n.3832C>A c.3646C>A (p.Pro1216Thr) c.3601C>A (p.Pro1201Thr) c.3556C>A (p.Pro1186Thr) c.3625C>A (p.Pro1209Thr) c.3610C>A (p.Pro1204Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3538C>A (p.Pro1180Thr) c.3529C>A (p.Pro1177Thr) c.3505C>A (p.Pro1169Thr) c.3499C>A (p.Pro1167Thr) c.3472C>A (p.Pro1158Thr) c.3466C>A (p.Pro1156Thr) c.3460C>A (p.Pro1154Thr) c.3421C>A (p.Pro1141Thr) c.3409C>A (p.Pro1137Thr) c.3352C>A (p.Pro1118Thr) c.3328C>A (p.Pro1110Thr) c.3322C>A (p.Pro1108Thr) c.3304C>A (p.Pro1102Thr) c.3250C>A (p.Pro1084Thr) c.2557C>A (p.Pro853Thr) c.2470C>A (p.Pro824Thr) n.3746C>A | dbSNP gnomAD v4 |