| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.42401840_42401858del | CA170722 | LIPE,LIPE-AS1 | c.3203_3221del (p.Val1068GlyfsTer?) c.891_909del n.77+4616_77+4634del n.97+4616_97+4634del c.2975_2993del (p.Val992GlyfsTer?) c.2438_2456del (p.Val813GlyfsTer?) c.2489_2507del (p.Val830GlyfsTer?) c.2300_2318del (p.Val767GlyfsTer?) c.2210_2228del (p.Val737GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.42401840_42401858dup | CA633473690 | LIPE,LIPE-AS1 | c.3203_3221dup (p.His1076ArgfsTer21) c.891_909dup n.77+4616_77+4634dup n.97+4616_97+4634dup c.2975_2993dup (p.His1000ArgfsTer21) c.2438_2456dup (p.His821ArgfsTer21) c.2489_2507dup (p.His838ArgfsTer21) c.2300_2318dup (p.His775ArgfsTer21) c.2210_2228dup (p.His745ArgfsTer21) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.42401858_42401859insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT | CA2519012268 | LIPE,LIPE-AS1 | c.3221_3222insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly1075ArgfsTer7) c.909_910insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG n.77+4634_77+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT n.97+4634_97+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT c.2993_2994insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly999ArgfsTer7) c.2456_2457insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly820ArgfsTer7) c.2507_2508insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly837ArgfsTer7) c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly774ArgfsTer7) c.2228_2229insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.Gly744ArgfsTer7) | dbSNP gnomAD v4 |
| 19 | g.42401858_42401859insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT | CA996056963 | LIPE,LIPE-AS1 | c.3221_3222insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His1076ArgfsTer6) c.909_910insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG n.77+4634_77+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT n.97+4634_97+4635insACCCCCGCAGCCCCCGTCTACCCCCGCAGCCCCCGTCT c.2993_2994insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His1000ArgfsTer6) c.2456_2457insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His821ArgfsTer6) c.2507_2508insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His838ArgfsTer6) c.2318_2319insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His775ArgfsTer6) c.2228_2229insTAGACGGGGGCTGCGGGGGTAGACGGGGGCTGCGGGGG (p.His745ArgfsTer6) | dbSNP gnomAD v3 gnomAD v4 |