| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.95637162_95637173del | CA2610293582 | ALDH18A1 | c.481_492del (p.Cys161_Ala164del) n.673_684del c.148_159del (p.Cys50_Ala53del) c.453+117_453+128del (n.453+117_453+128del) c.-78-3521_-78-3510del (n.-78-3521_-78-3510del) | gnomAD v4 |
| 10 | g.95637169C>A | CA377706517 | ALDH18A1 | c.482G>T (p.Cys161Phe) n.674G>T c.149G>T (p.Cys50Phe) c.453+118G>T (n.453+118G>T) c.-78-3520G>T (n.-78-3520G>T) | |
| 10 | g.95637169C= | CA1929619771 | ALDH18A1 | c.482G= (p.Cys161=) n.674G= c.149G= (p.Cys50=) c.453+118G= (n.453+118G=) c.-78-3520G= (n.-78-3520G=) | |
| 10 | g.95637169C>G | CA377706518 | ALDH18A1 | c.482G>C (p.Cys161Ser) n.674G>C c.149G>C (p.Cys50Ser) c.453+118G>C (n.453+118G>C) c.-78-3520G>C (n.-78-3520G>C) | |
| 10 | g.95637169C>T | CA16042724 | ALDH18A1 | c.482G>A (p.Cys161Tyr) n.674G>A c.149G>A (p.Cys50Tyr) c.453+118G>A (n.453+118G>A) c.-78-3520G>A (n.-78-3520G>A) | ClinVar dbSNP |
| 10 | g.95637170A= | CA1929619772 | ALDH18A1 | c.481T= (p.Cys161=) n.673T= c.148T= (p.Cys50=) c.453+117T= (n.453+117T=) c.-78-3521T= (n.-78-3521T=) | |
| 10 | g.95637170A>C | CA377706519 | ALDH18A1 | c.481T>G (p.Cys161Gly) n.673T>G c.148T>G (p.Cys50Gly) c.453+117T>G (n.453+117T>G) c.-78-3521T>G (n.-78-3521T>G) | |
| 10 | g.95637170A>G | CA377706520 | ALDH18A1 | c.481T>C (p.Cys161Arg) n.673T>C c.148T>C (p.Cys50Arg) c.453+117T>C (n.453+117T>C) c.-78-3521T>C (n.-78-3521T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.95637170A>T | CA377706521 | ALDH18A1 | c.481T>A (p.Cys161Ser) n.673T>A c.148T>A (p.Cys50Ser) c.453+117T>A (n.453+117T>A) c.-78-3521T>A (n.-78-3521T>A) | |
| 10 | g.95637171G>A | CA471031773 | ALDH18A1 | c.480C>T (p.Ala160=) n.672C>T c.147C>T (p.Ala49=) c.453+116C>T (n.453+116C>T) c.-78-3522C>T (n.-78-3522C>T) | |
| 10 | g.95637171G>C | CA471031774 | ALDH18A1 | c.480C>G (p.Ala160=) n.672C>G c.147C>G (p.Ala49=) c.453+116C>G (n.453+116C>G) c.-78-3522C>G (n.-78-3522C>G) | |
| 10 | g.95637171G>T | CA471031775 | ALDH18A1 | c.480C>A (p.Ala160=) n.672C>A c.147C>A (p.Ala49=) c.453+116C>A (n.453+116C>A) c.-78-3522C>A (n.-78-3522C>A) | |
| 10 | g.95637172G>A | CA377706522 | ALDH18A1 | c.479C>T (p.Ala160Val) n.671C>T c.146C>T (p.Ala49Val) c.453+115C>T (n.453+115C>T) c.-78-3523C>T (n.-78-3523C>T) | |
| 10 | g.95637172G>C | CA377706523 | ALDH18A1 | c.479C>G (p.Ala160Gly) n.671C>G c.146C>G (p.Ala49Gly) c.453+115C>G (n.453+115C>G) c.-78-3523C>G (n.-78-3523C>G) | |
| 10 | g.95637172G>T | CA377706524 | ALDH18A1 | c.479C>A (p.Ala160Asp) n.671C>A c.146C>A (p.Ala49Asp) c.453+115C>A (n.453+115C>A) c.-78-3523C>A (n.-78-3523C>A) | |
| 10 | g.95637173C>A | CA377706525 | ALDH18A1 | c.478G>T (p.Ala160Ser) n.670G>T c.145G>T (p.Ala49Ser) c.453+114G>T (n.453+114G>T) c.-78-3524G>T (n.-78-3524G>T) | ClinVar dbSNP |
| 10 | g.95637173C>G | CA377706526 | ALDH18A1 | c.478G>C (p.Ala160Pro) n.670G>C c.145G>C (p.Ala49Pro) c.453+114G>C (n.453+114G>C) c.-78-3524G>C (n.-78-3524G>C) | |
| 10 | g.95637173C>T | CA377706527 | ALDH18A1 | c.478G>A (p.Ala160Thr) n.670G>A c.145G>A (p.Ala49Thr) c.453+114G>A (n.453+114G>A) c.-78-3524G>A (n.-78-3524G>A) | |
| 10 | g.95637174T>A | CA471031783 | ALDH18A1 | c.477A>T (p.Arg159=) n.669A>T c.144A>T (p.Arg48=) c.453+113A>T (n.453+113A>T) c.-78-3525A>T (n.-78-3525A>T) | |
| 10 | g.95637174T>C | CA471031781 | ALDH18A1 | c.477A>G (p.Arg159=) n.669A>G c.144A>G (p.Arg48=) c.453+113A>G (n.453+113A>G) c.-78-3525A>G (n.-78-3525A>G) | |
| 10 | g.95637174T>G | CA471031780 | ALDH18A1 | c.477A>C (p.Arg159=) n.669A>C c.144A>C (p.Arg48=) c.453+113A>C (n.453+113A>C) c.-78-3525A>C (n.-78-3525A>C) | |
| 10 | g.95637175C>A | CA377706530 | ALDH18A1 | c.476G>T (p.Arg159Leu) n.668G>T c.143G>T (p.Arg48Leu) c.453+112G>T (n.453+112G>T) c.-78-3526G>T (n.-78-3526G>T) | |
| 10 | g.95637175C>G | CA377706529 | ALDH18A1 | c.476G>C (p.Arg159Pro) n.668G>C c.143G>C (p.Arg48Pro) c.453+112G>C (n.453+112G>C) c.-78-3526G>C (n.-78-3526G>C) | |
| 10 | g.95637175C>T | CA377706528 | ALDH18A1 | c.476G>A (p.Arg159Gln) n.668G>A c.143G>A (p.Arg48Gln) c.453+112G>A (n.453+112G>A) c.-78-3526G>A (n.-78-3526G>A) | gnomAD v4 |
| 10 | g.95637175_95637178delinsCGTG | CA1929619773 | ALDH18A1 | c.473_476delinsCACG (p.Ala158=) n.665_668delinsCACG c.140_143delinsCACG (p.Ala47=) c.453+109_453+112delinsCACG (n.453+109_453+112delinsCACG) c.-78-3529_-78-3526delinsCACG (n.-78-3529_-78-3526delinsCACG) | |
| 10 | g.95637176G>A | CA5620590 | ALDH18A1 | c.475C>T (p.Arg159Ter) n.667C>T c.142C>T (p.Arg48Ter) c.453+111C>T (n.453+111C>T) c.-78-3527C>T (n.-78-3527C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.95637176G>C | CA5620589 | ALDH18A1 | c.475C>G (p.Arg159Gly) n.667C>G c.142C>G (p.Arg48Gly) c.453+111C>G (n.453+111C>G) c.-78-3527C>G (n.-78-3527C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.95637176G= | CA1929619774 | ALDH18A1 | c.475C= (p.Arg159=) n.667C= c.142C= (p.Arg48=) c.453+111C= (n.453+111C=) c.-78-3527C= (n.-78-3527C=) | |
| 10 | g.95637176G>T | CA471031785 | ALDH18A1 | c.475C>A (p.Arg159=) n.667C>A c.142C>A (p.Arg48=) c.453+111C>A (n.453+111C>A) c.-78-3527C>A (n.-78-3527C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95637176_95637178del | CA595355329 | ALDH18A1 | c.473_475del (p.Ala158_Arg159delinsGly) n.665_667del c.140_142del (p.Ala47_Arg48delinsGly) c.453+109_453+111del (n.453+109_453+111del) c.-78-3529_-78-3527del (n.-78-3529_-78-3527del) | dbSNP gnomAD v2 |
| 10 | g.95637177T>A | CA471031786 | ALDH18A1 | c.474A>T (p.Ala158=) n.666A>T c.141A>T (p.Ala47=) c.453+110A>T (n.453+110A>T) c.-78-3528A>T (n.-78-3528A>T) | gnomAD v4 |
| 10 | g.95637177T>C | CA5620591 | ALDH18A1 | c.474A>G (p.Ala158=) n.666A>G c.141A>G (p.Ala47=) c.453+110A>G (n.453+110A>G) c.-78-3528A>G (n.-78-3528A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95637177T>G | CA471031787 | ALDH18A1 | c.474A>C (p.Ala158=) n.666A>C c.141A>C (p.Ala47=) c.453+110A>C (n.453+110A>C) c.-78-3528A>C (n.-78-3528A>C) | |
| 10 | g.95637177T= | CA1929619775 | ALDH18A1 | c.474A= (p.Ala158=) n.666A= c.141A= (p.Ala47=) c.453+110A= (n.453+110A=) c.-78-3528A= (n.-78-3528A=) | |
| 10 | g.95637178G>A | CA377706531 | ALDH18A1 | c.473C>T (p.Ala158Val) n.665C>T c.140C>T (p.Ala47Val) c.453+109C>T (n.453+109C>T) c.-78-3529C>T (n.-78-3529C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.95637178G>C | CA377706532 | ALDH18A1 | c.473C>G (p.Ala158Gly) n.665C>G c.140C>G (p.Ala47Gly) c.453+109C>G (n.453+109C>G) c.-78-3529C>G (n.-78-3529C>G) | |
| 10 | g.95637178G= | CA1929619776 | ALDH18A1 | c.473C= (p.Ala158=) n.665C= c.140C= (p.Ala47=) c.453+109C= (n.453+109C=) c.-78-3529C= (n.-78-3529C=) | |
| 10 | g.95637178G>T | CA377706533 | ALDH18A1 | c.473C>A (p.Ala158Glu) n.665C>A c.140C>A (p.Ala47Glu) c.453+109C>A (n.453+109C>A) c.-78-3529C>A (n.-78-3529C>A) | |
| 10 | g.95637179C>A | CA377706534 | ALDH18A1 | c.472G>T (p.Ala158Ser) n.664G>T c.139G>T (p.Ala47Ser) c.453+108G>T (n.453+108G>T) c.-78-3530G>T (n.-78-3530G>T) | |
| 10 | g.95637179C= | CA1929619777 | ALDH18A1 | c.472G= (p.Ala158=) n.664G= c.139G= (p.Ala47=) c.453+108G= (n.453+108G=) c.-78-3530G= (n.-78-3530G=) | |
| 10 | g.95637179C>G | CA377706535 | ALDH18A1 | c.472G>C (p.Ala158Pro) n.664G>C c.139G>C (p.Ala47Pro) c.453+108G>C (n.453+108G>C) c.-78-3530G>C (n.-78-3530G>C) | |
| 10 | g.95637179C>T | CA377706536 | ALDH18A1 | c.472G>A (p.Ala158Thr) n.664G>A c.139G>A (p.Ala47Thr) c.453+108G>A (n.453+108G>A) c.-78-3530G>A (n.-78-3530G>A) | dbSNP |
| 10 | g.95637180C>A | CA377706537 | ALDH18A1 | c.471G>T (p.Glu157Asp) n.663G>T c.138G>T (p.Glu46Asp) c.453+107G>T (n.453+107G>T) c.-78-3531G>T (n.-78-3531G>T) | |
| 10 | g.95637180C>G | CA377706538 | ALDH18A1 | c.471G>C (p.Glu157Asp) n.663G>C c.138G>C (p.Glu46Asp) c.453+107G>C (n.453+107G>C) c.-78-3531G>C (n.-78-3531G>C) | gnomAD v4 |
| 10 | g.95637180C>T | CA471031789 | ALDH18A1 | c.471G>A (p.Glu157=) n.663G>A c.138G>A (p.Glu46=) c.453+107G>A (n.453+107G>A) c.-78-3531G>A (n.-78-3531G>A) | gnomAD v4 |
| 10 | g.95637181T>A | CA377706539 | ALDH18A1 | c.470A>T (p.Glu157Val) n.662A>T c.137A>T (p.Glu46Val) c.453+106A>T (n.453+106A>T) c.-78-3532A>T (n.-78-3532A>T) | |
| 10 | g.95637181T>C | CA377706540 | ALDH18A1 | c.470A>G (p.Glu157Gly) n.662A>G c.137A>G (p.Glu46Gly) c.453+106A>G (n.453+106A>G) c.-78-3532A>G (n.-78-3532A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95637181T>G | CA377706541 | ALDH18A1 | c.470A>C (p.Glu157Ala) n.662A>C c.137A>C (p.Glu46Ala) c.453+106A>C (n.453+106A>C) c.-78-3532A>C (n.-78-3532A>C) | |
| 10 | g.95637181T= | CA1929619778 | ALDH18A1 | c.470A= (p.Glu157=) n.662A= c.137A= (p.Glu46=) c.453+106A= (n.453+106A=) c.-78-3532A= (n.-78-3532A=) | |
| 10 | g.95637182C>A | CA377706543 | ALDH18A1 | c.469G>T (p.Glu157Ter) n.661G>T c.136G>T (p.Glu46Ter) c.453+105G>T (n.453+105G>T) c.-78-3533G>T (n.-78-3533G>T) |