Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120738659del | CA2621368738 | ACADS | c.922del (p.Gln308ArgfsTer20) c.910del (p.Gln304ArgfsTer20) | gnomAD v4 |
12 | g.120738659C>A | CA386601373 | ACADS | c.922C>A (p.Gln308Lys) c.910C>A (p.Gln304Lys) | |
12 | g.120738659C= | CA2067555430 | ACADS | c.922C= (p.Gln308=) c.910C= (p.Gln304=) | |
12 | g.120738659C>G | CA386601374 | ACADS | c.922C>G (p.Gln308Glu) c.910C>G (p.Gln304Glu) | |
12 | g.120738659C>T | CA6831115 | ACADS | c.922C>T (p.Gln308Ter) c.910C>T (p.Gln304Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120738660A>C | CA386601377 | ACADS | c.923A>C (p.Gln308Pro) c.911A>C (p.Gln304Pro) | |
12 | g.120738660A>G | CA386601376 | ACADS | c.923A>G (p.Gln308Arg) c.911A>G (p.Gln304Arg) | |
12 | g.120738660A>T | CA386601375 | ACADS | c.923A>T (p.Gln308Leu) c.911A>T (p.Gln304Leu) | |
12 | g.120738661G>A | CA482146827 | ACADS | c.924G>A (p.Gln308=) c.912G>A (p.Gln304=) | gnomAD v4 |
12 | g.120738661G>C | CA386601378 | ACADS | c.924G>C (p.Gln308His) c.912G>C (p.Gln304His) | |
12 | g.120738661G>T | CA386601379 | ACADS | c.924G>T (p.Gln308His) c.912G>T (p.Gln304His) | gnomAD v4 |
12 | g.120738662G>A | CA386601380 | ACADS | c.925G>A (p.Val309Ile) c.913G>A (p.Val305Ile) | |
12 | g.120738662G>C | CA386601382 | ACADS | c.925G>C (p.Val309Leu) c.913G>C (p.Val305Leu) | |
12 | g.120738662G>T | CA386601381 | ACADS | c.925G>T (p.Val309Phe) c.913G>T (p.Val305Phe) | |
12 | g.120738663T>A | CA386601383 | ACADS | c.926T>A (p.Val309Asp) c.914T>A (p.Val305Asp) | |
12 | g.120738663T>C | CA386601385 | ACADS | c.926T>C (p.Val309Ala) c.914T>C (p.Val305Ala) | |
12 | g.120738663T>G | CA386601384 | ACADS | c.926T>G (p.Val309Gly) c.914T>G (p.Val305Gly) | |
12 | g.120738664C>A | CA482146829 | ACADS | c.927C>A (p.Val309=) c.915C>A (p.Val305=) | gnomAD v4 |
12 | g.120738664C= | CA2067555431 | ACADS | c.927C= (p.Val309=) c.915C= (p.Val305=) | |
12 | g.120738664C>G | CA482146830 | ACADS | c.927C>G (p.Val309=) c.915C>G (p.Val305=) | |
12 | g.120738664C>T | CA6831116 | ACADS | c.927C>T (p.Val309=) c.915C>T (p.Val305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120738665A>C | CA386601386 | ACADS | c.928A>C (p.Ile310Leu) c.916A>C (p.Ile306Leu) | gnomAD v4 |
12 | g.120738665A>G | CA386601387 | ACADS | c.928A>G (p.Ile310Val) c.916A>G (p.Ile306Val) | |
12 | g.120738665A>T | CA386601388 | ACADS | c.928A>T (p.Ile310Phe) c.916A>T (p.Ile306Phe) | |
12 | g.120738666T>A | CA386601389 | ACADS | c.929T>A (p.Ile310Asn) c.917T>A (p.Ile306Asn) | |
12 | g.120738666T>C | CA6831117 | ACADS | c.929T>C (p.Ile310Thr) c.917T>C (p.Ile306Thr) | dbSNP ExAC gnomAD v2 |
12 | g.120738666T>G | CA386601390 | ACADS | c.929T>G (p.Ile310Ser) c.917T>G (p.Ile306Ser) | |
12 | g.120738666T= | CA2067555432 | ACADS | c.929T= (p.Ile310=) c.917T= (p.Ile306=) | |
12 | g.120738667C>A | CA482146837 | ACADS | c.930C>A (p.Ile310=) c.918C>A (p.Ile306=) | |
12 | g.120738667C>G | CA386601391 | ACADS | c.930C>G (p.Ile310Met) c.918C>G (p.Ile306Met) | |
12 | g.120738667C>T | CA482146838 | ACADS | c.930C>T (p.Ile310=) c.918C>T (p.Ile306=) | |
12 | g.120738668C>A | CA386601392 | ACADS | c.931C>A (p.Gln311Lys) c.919C>A (p.Gln307Lys) | |
12 | g.120738668C>G | CA386601393 | ACADS | c.931C>G (p.Gln311Glu) c.919C>G (p.Gln307Glu) | |
12 | g.120738668C>T | CA386601394 | ACADS | c.931C>T (p.Gln311Ter) c.919C>T (p.Gln307Ter) | ClinVar |
12 | g.120738669A>C | CA386601397 | ACADS | c.932A>C (p.Gln311Pro) c.920A>C (p.Gln307Pro) | |
12 | g.120738669A>G | CA386601396 | ACADS | c.932A>G (p.Gln311Arg) c.920A>G (p.Gln307Arg) | gnomAD v4 |
12 | g.120738669A>T | CA386601395 | ACADS | c.932A>T (p.Gln311Leu) c.920A>T (p.Gln307Leu) | |
12 | g.120738670G>A | CA482146842 | ACADS | c.933G>A (p.Gln311=) c.921G>A (p.Gln307=) | |
12 | g.120738670G>C | CA386601398 | ACADS | c.933G>C (p.Gln311His) c.921G>C (p.Gln307His) | |
12 | g.120738670G>T | CA386601399 | ACADS | c.933G>T (p.Gln311His) c.921G>T (p.Gln307His) | |
12 | g.120738671G>A | CA386601400 | ACADS | c.933+1G>A (n.933+1G>A) c.921+1G>A (n.921+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120738671G>C | CA386601401 | ACADS | c.933+1G>C (n.933+1G>C) c.921+1G>C (n.921+1G>C) | dbSNP |
12 | g.120738671G= | CA2067555433 | ACADS | c.933+1G= (n.933+1G=) c.921+1G= (n.921+1G=) | |
12 | g.120738671G>T | CA386601402 | ACADS | c.933+1G>T (n.933+1G>T) c.921+1G>T (n.921+1G>T) | gnomAD v4 |
12 | g.120738672T>A | CA386601403 | ACADS | c.933+2T>A (n.933+2T>A) c.921+2T>A (n.921+2T>A) | |
12 | g.120738672T>C | CA386601404 | ACADS | c.933+2T>C (n.933+2T>C) c.921+2T>C (n.921+2T>C) | |
12 | g.120738672T>G | CA386601405 | ACADS | c.933+2T>G (n.933+2T>G) c.921+2T>G (n.921+2T>G) | |
12 | g.120738674_120738677delinsATGG | CA2067555434 | ACADS | c.933+4_933+7delinsATGG (n.933+4_933+7delinsATGG) c.921+4_921+7delinsATGG (n.921+4_921+7delinsATGG) | |
12 | g.120738675T>C | CA6831118 | ACADS | c.933+5T>C (n.933+5T>C) c.921+5T>C (n.921+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120738675T= | CA2067555436 | ACADS | c.933+5T= (n.933+5T=) c.921+5T= (n.921+5T=) |