| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37047639_37047641del | CA007087 | MLH1 | c.1668-2847_1668-2845del (n.1668-2847_1668-2845del) c.1558_1560del (p.Lys520del) c.1559-2847_1559-2845del (n.1559-2847_1559-2845del) c.1852_1854del (p.Lys618del) c.1129_1131del (p.Lys377del) c.1732-878_1732-876del (n.1732-878_1732-876del) c.*770_*772del (n.*770_*772del) c.*1684_*1686del (n.*1684_*1686del) c.*81_*83del (n.*81_*83del) c.*963_*965del (n.*963_*965del) c.889_891del (p.Lys297del) c.1685-878_1685-876del n.886_888del n.1234_1236del c.*1644_*1646del (n.*1644_*1646del) c.1120_1122del (p.Lys374del) c.*1992_*1994del (n.*1992_*1994del) c.*1730_*1732del (n.*1730_*1732del) n.563_565del c.291-2847_291-2845del (n.291-2847_291-2845del) c.182-2847_182-2845del (n.182-2847_182-2845del) c.1827_1829del c.620_622del c.1645_1647del (p.Lys549del) c.829_831del (p.Lys277del) c.778_780del (p.Lys260del) c.1753_1755del (p.Lys585del) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.37047639_37047641dup | CA2580614171 | MLH1 | c.1668-2847_1668-2845dup (n.1668-2847_1668-2845dup) c.1558_1560dup (p.Lys520_Ala521insLys) c.1559-2847_1559-2845dup (n.1559-2847_1559-2845dup) c.1852_1854dup (p.Lys618_Ala619insLys) c.1129_1131dup (p.Lys377_Ala378insLys) c.1732-878_1732-876dup (n.1732-878_1732-876dup) c.*770_*772dup (n.*770_*772dup) c.*1684_*1686dup (n.*1684_*1686dup) c.*81_*83dup (n.*81_*83dup) c.*963_*965dup (n.*963_*965dup) c.889_891dup (p.Lys297_Ala298insLys) c.1685-878_1685-876dup n.886_888dup n.1234_1236dup c.*1644_*1646dup (n.*1644_*1646dup) c.1120_1122dup (p.Lys374_Ala375insLys) c.*1992_*1994dup (n.*1992_*1994dup) c.*1730_*1732dup (n.*1730_*1732dup) n.563_565dup c.291-2847_291-2845dup (n.291-2847_291-2845dup) c.182-2847_182-2845dup (n.182-2847_182-2845dup) c.1827_1829dup c.620_622dup c.1645_1647dup (p.Lys549_Ala550insLys) c.829_831dup (p.Lys277_Ala278insLys) c.778_780dup (p.Lys260_Ala261insLys) c.1753_1755dup (p.Lys585_Ala586insLys) | ClinVar dbSNP |