Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1512438_1512467del | CA2642610442 | ATAD3A | c.54_83del c.170_199del (p.Arg57_Glu66del) n.274_303del n.296_325del | gnomAD v4 |
1 | g.1512435A= | CA1149097921 | ATAD3A | c.51A= c.167A= (p.Glu56=) n.271A= n.293A= | |
1 | g.1512435A>C | CA337846597 | ATAD3A | c.51A>C c.167A>C (p.Glu56Ala) n.271A>C n.293A>C | |
1 | g.1512435A>G | CA337846585 | ATAD3A | c.51A>G c.167A>G (p.Glu56Gly) n.271A>G n.293A>G | dbSNP |
1 | g.1512435A>T | CA337846595 | ATAD3A | c.51A>T c.167A>T (p.Glu56Val) n.271A>T n.293A>T | |
1 | g.1512436G>A | CA16777136 | ATAD3A | c.52G>A c.168G>A (p.Glu56=) n.272G>A n.294G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1512436G>C | CA337846603 | ATAD3A | c.52G>C c.168G>C (p.Glu56Asp) n.272G>C n.294G>C | gnomAD v4 |
1 | g.1512436G= | CA1147034910 | ATAD3A | c.52G= c.168G= (p.Glu56=) n.272G= n.294G= | |
1 | g.1512436G>T | CA337846623 | ATAD3A | c.52G>T c.168G>T (p.Glu56Asp) n.272G>T n.294G>T | gnomAD v4 |
1 | g.1512436_1512444del | CA2642610446 | ATAD3A | c.52_60del c.168_176del (p.Glu56_Ala59delinsAsp) n.272_280del n.294_302del | gnomAD v4 |
1 | g.1512438_1512444del | CA2642610445 | ATAD3A | c.54_60del c.170_176del (p.Arg57ProfsTer17) n.274_280del n.296_302del | gnomAD v4 |
1 | g.1512437C>A | CA337846627 | ATAD3A | c.53C>A c.169C>A (p.Arg57Ser) n.273C>A n.295C>A | gnomAD v4 |
1 | g.1512437C>G | CA337846630 | ATAD3A | c.53C>G c.169C>G (p.Arg57Gly) n.273C>G n.295C>G | gnomAD v4 |
1 | g.1512437C>T | CA337846634 | ATAD3A | c.53C>T c.169C>T (p.Arg57Cys) n.273C>T n.295C>T | gnomAD v4 |
1 | g.1512437_1512438insCTCCTAGTAGCCCGG | CA2642610453 | ATAD3A | c.53_54insCTCCTAGTAGCCCGG c.169_170insCTCCTAGTAGCCCGG (p.Arg57delinsProProSerSerProGly) n.273_274insCTCCTAGTAGCCCGG n.295_296insCTCCTAGTAGCCCGG | gnomAD v4 |
1 | g.1512438G>A | CA337846649 | ATAD3A | c.54G>A c.170G>A (p.Arg57His) n.274G>A n.296G>A | gnomAD v4 |
1 | g.1512438G>C | CA337846652 | ATAD3A | c.54G>C c.170G>C (p.Arg57Pro) n.274G>C n.296G>C | |
1 | g.1512438G>T | CA337846655 | ATAD3A | c.54G>T c.170G>T (p.Arg57Leu) n.274G>T n.296G>T | gnomAD v4 |
1 | g.1512438_1512441delinsGCGC | CA1149097922 | ATAD3A | c.54_57delinsGCGC c.170_173delinsGCGC (p.Arg57=) n.274_277delinsGCGC n.296_299delinsGCGC | |
1 | g.1512439C>A | CA415385388 | ATAD3A | c.55C>A c.171C>A (p.Arg57=) n.275C>A n.297C>A | gnomAD v4 |
1 | g.1512439C>G | CA415385389 | ATAD3A | c.55C>G c.171C>G (p.Arg57=) n.275C>G n.297C>G | dbSNP |
1 | g.1512439C>T | CA415385390 | ATAD3A | c.55C>T c.171C>T (p.Arg57=) n.275C>T n.297C>T | gnomAD v4 |
1 | g.1512443_1512445del | CA889287713 | ATAD3A | c.59_61del c.175_177del (p.Ala59del) n.279_281del n.301_303del | dbSNP |
1 | g.1512440_1512469del | CA2642610455 | ATAD3A | c.56_85del c.172_201del (p.Ala58_His67del) n.276_305del n.298_327del | gnomAD v4 |
1 | g.1512440G>A | CA337846658 | ATAD3A | c.56G>A c.172G>A (p.Ala58Thr) n.276G>A n.298G>A | gnomAD v4 |
1 | g.1512440G>C | CA337846661 | ATAD3A | c.56G>C c.172G>C (p.Ala58Pro) n.276G>C n.298G>C | |
1 | g.1512440G>T | CA337846663 | ATAD3A | c.56G>T c.172G>T (p.Ala58Ser) n.276G>T n.298G>T | gnomAD v4 |
1 | g.1512441C>A | CA337846665 | ATAD3A | c.57C>A c.173C>A (p.Ala58Asp) n.277C>A n.299C>A | gnomAD v4 |
1 | g.1512441C>G | CA337846675 | ATAD3A | c.57C>G c.173C>G (p.Ala58Gly) n.277C>G n.299C>G | |
1 | g.1512441C>T | CA337846667 | ATAD3A | c.57C>T c.173C>T (p.Ala58Val) n.277C>T n.299C>T | |
1 | g.1512441_1512454delinsCCGCCAAGGCGGCG | CA1149097923 | ATAD3A | c.57_70delinsCCGCCAAGGCGGCG c.173_186delinsCCGCCAAGGCGGCG (p.Ala58=) n.277_290delinsCCGCCAAGGCGGCG n.299_312delinsCCGCCAAGGCGGCG | |
1 | g.1512442C>A | CA415385393 | ATAD3A | c.58C>A c.174C>A (p.Ala58=) n.278C>A n.300C>A | gnomAD v4 |
1 | g.1512442C>G | CA415385392 | ATAD3A | c.58C>G c.174C>G (p.Ala58=) n.278C>G n.300C>G | |
1 | g.1512442C>T | CA415385391 | ATAD3A | c.58C>T c.174C>T (p.Ala58=) n.278C>T n.300C>T | gnomAD v4 |
1 | g.1512445_1512455del | CA2607766785 | ATAD3A | c.61_71del c.177_187del (p.Lys60ArgfsTer?) n.281_291del n.303_313del | gnomAD v4 |
1 | g.1512445_1512457del | CA658795360 | ATAD3A | c.61_73del c.177_189del (p.Lys60SerfsTer12) n.281_293del n.303_315del | ClinVar dbSNP |
1 | g.1512443G>A | CA337846676 | ATAD3A | c.59G>A c.175G>A (p.Ala59Thr) n.279G>A n.301G>A | gnomAD v4 |
1 | g.1512443G>C | CA337846678 | ATAD3A | c.59G>C c.175G>C (p.Ala59Pro) n.279G>C n.301G>C | |
1 | g.1512443G>T | CA337846680 | ATAD3A | c.59G>T c.175G>T (p.Ala59Ser) n.279G>T n.301G>T | gnomAD v4 |
1 | g.1512444_1512448del | CA2642610462 | ATAD3A | c.60_64del c.176_180del (p.Ala59GlyfsTer?) n.280_284del n.302_306del | gnomAD v4 |
1 | g.1512445_1512461del | CA2642610463 | ATAD3A | c.61_77del c.177_193del (p.Lys60GlyfsTer?) n.281_297del n.303_319del | gnomAD v4 |
1 | g.1512444C>A | CA337846682 | ATAD3A | c.60C>A c.176C>A (p.Ala59Asp) n.280C>A n.302C>A | |
1 | g.1512444C>G | CA337846685 | ATAD3A | c.60C>G c.176C>G (p.Ala59Gly) n.280C>G n.302C>G | |
1 | g.1512444C>T | CA337846699 | ATAD3A | c.60C>T c.176C>T (p.Ala59Val) n.280C>T n.302C>T | |
1 | g.1512445del | CA2742154658 | ATAD3A | c.61del c.177del (p.Lys60ArgfsTer16) n.281del n.303del | |
1 | g.1512445C>A | CA415385394 | ATAD3A | c.61C>A c.177C>A (p.Ala59=) n.281C>A n.303C>A | |
1 | g.1512445C= | CA1149097925 | ATAD3A | c.61C= c.177C= (p.Ala59=) n.281C= n.303C= | |
1 | g.1512445C>G | CA415385395 | ATAD3A | c.61C>G c.177C>G (p.Ala59=) n.281C>G n.303C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1512445C>T | CA415385396 | ATAD3A | c.61C>T c.177C>T (p.Ala59=) n.281C>T n.303C>T | |
1 | g.1512445_1512447delinsCAA | CA1149097924 | ATAD3A | c.61_63delinsCAA c.177_179delinsCAA (p.Ala59=) n.281_283delinsCAA n.303_305delinsCAA |