Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1512429G>A | CA337846541 | ATAD3A | c.45G>A c.161G>A (p.Gly54Asp) n.265G>A n.287G>A | gnomAD v4 |
1 | g.1512429G>C | CA337846544 | ATAD3A | c.45G>C c.161G>C (p.Gly54Ala) n.265G>C n.287G>C | |
1 | g.1512429G>T | CA337846548 | ATAD3A | c.45G>T c.161G>T (p.Gly54Val) n.265G>T n.287G>T | gnomAD v4 |
1 | g.1512430C>A | CA415385381 | ATAD3A | c.46C>A c.162C>A (p.Gly54=) n.266C>A n.288C>A | |
1 | g.1512430C>G | CA415385382 | ATAD3A | c.46C>G c.162C>G (p.Gly54=) n.266C>G n.288C>G | |
1 | g.1512430C>T | CA415385383 | ATAD3A | c.46C>T c.162C>T (p.Gly54=) n.266C>T n.288C>T | gnomAD v4 |
1 | g.1512431C>A | CA337846550 | ATAD3A | c.47C>A c.163C>A (p.Leu55Met) n.267C>A n.289C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1512431C= | CA1149097919 | ATAD3A | c.47C= c.163C= (p.Leu55=) n.267C= n.289C= | |
1 | g.1512431C>G | CA337846549 | ATAD3A | c.47C>G c.163C>G (p.Leu55Val) n.267C>G n.289C>G | |
1 | g.1512431C>T | CA415385384 | ATAD3A | c.47C>T c.163C>T (p.Leu55=) n.267C>T n.289C>T | dbSNP gnomAD v3 gnomAD v4 |
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.1512432T>A | CA337846553 | ATAD3A | c.48T>A c.164T>A (p.Leu55Gln) n.268T>A n.290T>A | gnomAD v4 |
1 | g.1512432T>C | CA337846562 | ATAD3A | c.48T>C c.164T>C (p.Leu55Pro) n.268T>C n.290T>C | gnomAD v4 |
1 | g.1512432T>G | CA337846564 | ATAD3A | c.48T>G c.164T>G (p.Leu55Arg) n.268T>G n.290T>G | |
1 | g.1512433G>A | CA415385385 | ATAD3A | c.49G>A c.165G>A (p.Leu55=) n.269G>A n.291G>A | |
1 | g.1512433G>C | CA415385386 | ATAD3A | c.49G>C c.165G>C (p.Leu55=) n.269G>C n.291G>C | |
1 | g.1512433G= | CA1149097920 | ATAD3A | c.49G= c.165G= (p.Leu55=) n.269G= n.291G= | |
1 | g.1512433G>T | CA415385387 | ATAD3A | c.49G>T c.165G>T (p.Leu55=) n.269G>T n.291G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1512434G>A | CA337846566 | ATAD3A | c.50G>A c.166G>A (p.Glu56Lys) n.270G>A n.292G>A | gnomAD v4 |
1 | g.1512434G>C | CA337846569 | ATAD3A | c.50G>C c.166G>C (p.Glu56Gln) n.270G>C n.292G>C | gnomAD v4 |
1 | g.1512434G>T | CA337846576 | ATAD3A | c.50G>T c.166G>T (p.Glu56Ter) n.270G>T n.292G>T | 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 |