| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47803445_47803446dup | CA011888 | FBXO11,MSH6 | c.2901_2902dup (p.Ser968IlefsTer13) c.3173-2173_3173-2172dup (n.3173-2173_3173-2172dup) n.3282_3283dup c.1632_1633dup (p.Ser545IlefsTer13) c.3204_3205dup (p.Ser1069IlefsTer13) c.653_654dup (p.Val219Ter) c.2330-2173_2330-2172dup (n.2330-2173_2330-2172dup) n.2049_2050dup n.2046_2047dup n.1203_1204dup n.777_778dup n.776_777dup n.607_608dup n.678_679dup c.3198_3199dup (p.Ser1067IlefsTer13) c.2808_2809dup (p.Ser937IlefsTer13) c.169+4751_169+4752dup (n.169+4751_169+4752dup) c.*124+4550_*124+4551dup (n.*124+4550_*124+4551dup) c.*2545_*2546dup (n.*2545_*2546dup) c.2292_2293dup (p.Ser765IlefsTer13) c.102_103dup (p.Ser35IlefsTer13) c.3015_3016dup (p.Ser1006IlefsTer13) | ClinVar dbSNP |
| 2 | g.47803445_47803446del | CA011861 | FBXO11,MSH6 | c.2901_2902del (p.Tyr967Ter) c.3173-2173_3173-2172del (n.3173-2173_3173-2172del) n.3282_3283del c.1632_1633del (p.Tyr544Ter) c.3204_3205del (p.Tyr1068Ter) c.653_654del (p.Ile218SerfsTer?) c.2330-2173_2330-2172del (n.2330-2173_2330-2172del) n.2049_2050del n.2046_2047del n.1203_1204del n.777_778del n.776_777del n.607_608del n.678_679del c.3198_3199del (p.Tyr1066Ter) c.2808_2809del (p.Tyr936Ter) c.169+4751_169+4752del (n.169+4751_169+4752del) c.*124+4550_*124+4551del (n.*124+4550_*124+4551del) c.*2545_*2546del (n.*2545_*2546del) c.2292_2293del (p.Tyr764Ter) c.102_103del (p.Tyr34Ter) c.3015_3016del (p.Tyr1005Ter) | ClinVar dbSNP |