Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.25339189_25339190dup | CA915946468 | SNHG14,UBE3A | c.2507_2508dup (p.Glu837LysfsTer5) c.*892_*893dup (n.*892_*893dup) c.104_105dup (p.Glu36LysfsTer5) c.2567_2568dup (p.Glu857LysfsTer5) c.2576_2577dup (p.Glu860LysfsTer5) c.2390_2391dup (p.Glu798LysfsTer5) c.518_519dup (p.Glu174LysfsTer5) c.378_379dup c.2411_2412dup (p.Glu805LysfsTer5) c.2351_2352dup (p.Glu785LysfsTer5) c.2342_2343dup (p.Glu782LysfsTer5) c.1316_1317dup (p.Glu440LysfsTer5) c.1256_1257dup (p.Glu420LysfsTer5) n.18393-52407_18393-52406dup n.3111_3112dup c.2420_2421dup (p.Glu808LysfsTer5) n.3079_3080dup | ClinVar dbSNP |
15 | g.25339189_25339190del | CA333365 | SNHG14,UBE3A | c.2507_2508del (p.Lys836ArgfsTer24) c.*892_*893del (n.*892_*893del) c.104_105del (p.Lys35ArgfsTer24) c.2567_2568del (p.Lys856ArgfsTer24) c.2576_2577del (p.Lys859ArgfsTer24) c.2390_2391del (p.Lys797ArgfsTer?) c.2576_2577del (p.Lys859ArgfsTer?) c.2507_2508del (p.Lys836ArgfsTer?) c.518_519del (p.Lys173ArgfsTer?) c.378_379del c.2411_2412del (p.Lys804ArgfsTer24) c.2390_2391del (p.Lys797ArgfsTer24) c.2351_2352del (p.Lys784ArgfsTer24) c.2342_2343del (p.Lys781ArgfsTer24) c.1316_1317del (p.Lys439ArgfsTer24) c.1256_1257del (p.Lys419ArgfsTer24) n.18393-52407_18393-52406del n.3111_3112del c.2420_2421del (p.Lys807ArgfsTer24) n.3079_3080del | ClinVar dbSNP COSMIC |