| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1512426C>A | CA337846524 | ATAD3A | c.42C>A c.158C>A (p.Thr53Asn) n.262C>A n.284C>A | |
| 1 | g.1512426C= | CA1149097917 | ATAD3A | c.42C= c.158C= (p.Thr53=) n.262C= n.284C= | |
| 1 | g.1512426C>G | CA337846522 | ATAD3A | c.42C>G c.158C>G (p.Thr53Ser) n.262C>G n.284C>G | |
| 1 | g.1512426C>T | CA16040615 | ATAD3A | c.42C>T c.158C>T (p.Thr53Ile) n.262C>T n.284C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.1512427C>A | CA415385378 | ATAD3A | c.43C>A c.159C>A (p.Thr53=) n.263C>A n.285C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1512427C= | CA1149097918 | ATAD3A | c.43C= c.159C= (p.Thr53=) n.263C= n.285C= | |
| 1 | g.1512427C>G | CA415385379 | ATAD3A | c.43C>G c.159C>G (p.Thr53=) n.263C>G n.285C>G | |
| 1 | g.1512427C>T | CA415385380 | ATAD3A | c.43C>T c.159C>T (p.Thr53=) n.263C>T n.285C>T | gnomAD v4 |
| 1 | g.1512428G>A | CA337846529 | ATAD3A | c.44G>A c.160G>A (p.Gly54Ser) n.264G>A n.286G>A | gnomAD v4 |
| 1 | g.1512428G>C | CA337846532 | ATAD3A | c.44G>C c.160G>C (p.Gly54Arg) n.264G>C n.286G>C | |
| 1 | g.1512428G>T | CA337846534 | ATAD3A | c.44G>T c.160G>T (p.Gly54Cys) n.264G>T n.286G>T | gnomAD v4 |
| 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 |