| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120738636T>A | CA386601328 | ACADS | c.899T>A (p.Phe300Tyr) c.887T>A (p.Phe296Tyr) | |
| 12 | g.120738636T>C | CA386601329 | ACADS | c.899T>C (p.Phe300Ser) c.887T>C (p.Phe296Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738636T>G | CA386601330 | ACADS | c.899T>G (p.Phe300Cys) c.887T>G (p.Phe296Cys) | |
| 12 | g.120738636T= | CA2067555417 | ACADS | c.899T= (p.Phe300=) c.887T= (p.Phe296=) | |
| 12 | g.120738637C>A | CA386601332 | ACADS | c.900C>A (p.Phe300Leu) c.888C>A (p.Phe296Leu) | |
| 12 | g.120738637C= | CA2067555418 | ACADS | c.900C= (p.Phe300=) c.888C= (p.Phe296=) | |
| 12 | g.120738637C>G | CA386601331 | ACADS | c.900C>G (p.Phe300Leu) c.888C>G (p.Phe296Leu) | |
| 12 | g.120738637C>T | CA6831108 | ACADS | c.900C>T (p.Phe300=) c.888C>T (p.Phe296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738637_120738638delinsCG | CA2067555419 | ACADS | c.900_901delinsCG (p.Phe300=) c.888_889delinsCG (p.Phe296=) | |
| 12 | g.120738638G>A | CA6831109 | ACADS | c.901G>A (p.Gly301Arg) c.889G>A (p.Gly297Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738638G>C | CA386601333 | ACADS | c.901G>C (p.Gly301Arg) c.889G>C (p.Gly297Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738638G= | CA2067555420 | ACADS | c.901G= (p.Gly301=) c.889G= (p.Gly297=) | |
| 12 | g.120738638G>T | CA386601334 | ACADS | c.901G>T (p.Gly301Trp) c.889G>T (p.Gly297Trp) | |
| 12 | g.120738641del | CA684418292 | ACADS | c.904del (p.Ala302ArgfsTer26) c.892del (p.Ala298ArgfsTer26) | dbSNP |
| 12 | g.120738639G>A | CA386601335 | ACADS | c.902G>A (p.Gly301Glu) c.890G>A (p.Gly297Glu) | |
| 12 | g.120738639G>C | CA386601336 | ACADS | c.902G>C (p.Gly301Ala) c.890G>C (p.Gly297Ala) | |
| 12 | g.120738639G= | CA2067555421 | ACADS | c.902G= (p.Gly301=) c.890G= (p.Gly297=) | |
| 12 | g.120738639G>T | CA386601337 | ACADS | c.902G>T (p.Gly301Val) c.890G>T (p.Gly297Val) | dbSNP gnomAD v4 |
| 12 | g.120738640G>A | CA482146798 | ACADS | c.903G>A (p.Gly301=) c.891G>A (p.Gly297=) | |
| 12 | g.120738640G>C | CA482146799 | ACADS | c.903G>C (p.Gly301=) c.891G>C (p.Gly297=) | |
| 12 | g.120738640G>T | CA482146800 | ACADS | c.903G>T (p.Gly301=) c.891G>T (p.Gly297=) | |
| 12 | g.120738641G>A | CA386601338 | ACADS | c.904G>A (p.Ala302Thr) c.892G>A (p.Ala298Thr) | |
| 12 | g.120738641G>C | CA386601340 | ACADS | c.904G>C (p.Ala302Pro) c.892G>C (p.Ala298Pro) | |
| 12 | g.120738641G>T | CA386601339 | ACADS | c.904G>T (p.Ala302Ser) c.892G>T (p.Ala298Ser) | gnomAD v4 |
| 12 | g.120738642C>A | CA6831111 | ACADS | c.905C>A (p.Ala302Glu) c.893C>A (p.Ala298Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738642C= | CA2067555422 | ACADS | c.905C= (p.Ala302=) c.893C= (p.Ala298=) | |
| 12 | g.120738642C>G | CA386601341 | ACADS | c.905C>G (p.Ala302Gly) c.893C>G (p.Ala298Gly) | |
| 12 | g.120738642C>T | CA6831110 | ACADS | c.905C>T (p.Ala302Val) c.893C>T (p.Ala298Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738643G>A | CA6831112 | ACADS | c.906G>A (p.Ala302=) c.894G>A (p.Ala298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738643G>C | CA482146801 | ACADS | c.906G>C (p.Ala302=) c.894G>C (p.Ala298=) | dbSNP gnomAD v4 |
| 12 | g.120738643G= | CA2067555423 | ACADS | c.906G= (p.Ala302=) c.894G= (p.Ala298=) | |
| 12 | g.120738643G>T | CA482146802 | ACADS | c.906G>T (p.Ala302=) c.894G>T (p.Ala298=) | gnomAD v4 |
| 12 | g.120738644C>A | CA386601342 | ACADS | c.907C>A (p.Pro303Thr) c.895C>A (p.Pro299Thr) | |
| 12 | g.120738644C= | CA2067555424 | ACADS | c.907C= (p.Pro303=) c.895C= (p.Pro299=) | |
| 12 | g.120738644C>G | CA386601343 | ACADS | c.907C>G (p.Pro303Ala) c.895C>G (p.Pro299Ala) | |
| 12 | g.120738644C>T | CA386601344 | ACADS | c.907C>T (p.Pro303Ser) c.895C>T (p.Pro299Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738647dup | CA16041571 | ACADS | c.910dup (p.Leu304ProfsTer?) c.898dup (p.Leu300ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738647del | CA2621368661 | ACADS | c.910del (p.Leu304SerfsTer24) c.898del (p.Leu300SerfsTer24) | gnomAD v4 |
| 12 | g.120738645C>A | CA386601345 | ACADS | c.908C>A (p.Pro303His) c.896C>A (p.Pro299His) | |
| 12 | g.120738645C>G | CA386601346 | ACADS | c.908C>G (p.Pro303Arg) c.896C>G (p.Pro299Arg) | |
| 12 | g.120738645C>T | CA386601347 | ACADS | c.908C>T (p.Pro303Leu) c.896C>T (p.Pro299Leu) | gnomAD v4 |
| 12 | g.120738646C>A | CA482146804 | ACADS | c.909C>A (p.Pro303=) c.897C>A (p.Pro299=) | |
| 12 | g.120738646C>G | CA482146805 | ACADS | c.909C>G (p.Pro303=) c.897C>G (p.Pro299=) | |
| 12 | g.120738646C>T | CA482146806 | ACADS | c.909C>T (p.Pro303=) c.897C>T (p.Pro299=) | gnomAD v4 |
| 12 | g.120738647C>A | CA386601350 | ACADS | c.910C>A (p.Leu304Ile) c.898C>A (p.Leu300Ile) | |
| 12 | g.120738647C= | CA2067555425 | ACADS | c.910C= (p.Leu304=) c.898C= (p.Leu300=) | |
| 12 | g.120738647C>G | CA386601349 | ACADS | c.910C>G (p.Leu304Val) c.898C>G (p.Leu300Val) | |
| 12 | g.120738647C>T | CA386601348 | ACADS | c.910C>T (p.Leu304Phe) c.898C>T (p.Leu300Phe) | ClinVar dbSNP gnomAD v2 |
| 12 | g.120738648T>A | CA386601351 | ACADS | c.911T>A (p.Leu304His) c.899T>A (p.Leu300His) | |
| 12 | g.120738648T>C | CA386601352 | ACADS | c.911T>C (p.Leu304Pro) c.899T>C (p.Leu300Pro) | |
| 12 | g.120738648T>G | CA386601353 | ACADS | c.911T>G (p.Leu304Arg) c.899T>G (p.Leu300Arg) | |
| 12 | g.120738649C>A | CA482146808 | ACADS | c.912C>A (p.Leu304=) c.900C>A (p.Leu300=) | |
| 12 | g.120738649C= | CA2067555426 | ACADS | c.912C= (p.Leu304=) c.900C= (p.Leu300=) | |
| 12 | g.120738649C>G | CA482146807 | ACADS | c.912C>G (p.Leu304=) c.900C>G (p.Leu300=) | |
| 12 | g.120738649C>T | CA6831113 | ACADS | c.912C>T (p.Leu304=) c.900C>T (p.Leu300=) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738650del | CA2727324059 | ACADS | c.913del (p.Thr305ProfsTer23) c.901del (p.Thr301ProfsTer23) | dbSNP |
| 12 | g.120738650A>C | CA386601354 | ACADS | c.913A>C (p.Thr305Pro) c.901A>C (p.Thr301Pro) | |
| 12 | g.120738650A>G | CA386601355 | ACADS | c.913A>G (p.Thr305Ala) c.901A>G (p.Thr301Ala) | |
| 12 | g.120738650A>T | CA386601356 | ACADS | c.913A>T (p.Thr305Ser) c.901A>T (p.Thr301Ser) | |
| 12 | g.120738651C>A | CA386601357 | ACADS | c.914C>A (p.Thr305Asn) c.902C>A (p.Thr301Asn) | |
| 12 | g.120738651C= | CA2067555427 | ACADS | c.914C= (p.Thr305=) c.902C= (p.Thr301=) | |
| 12 | g.120738651C>G | CA244494354 | ACADS | c.914C>G (p.Thr305Ser) c.902C>G (p.Thr301Ser) | dbSNP gnomAD v4 |
| 12 | g.120738651C>T | CA386601358 | ACADS | c.914C>T (p.Thr305Ile) c.902C>T (p.Thr301Ile) | |
| 12 | g.120738652C>A | CA482146812 | ACADS | c.915C>A (p.Thr305=) c.903C>A (p.Thr301=) | |
| 12 | g.120738652C= | CA2067555428 | ACADS | c.915C= (p.Thr305=) c.903C= (p.Thr301=) | |
| 12 | g.120738652C>G | CA482146813 | ACADS | c.915C>G (p.Thr305=) c.903C>G (p.Thr301=) | gnomAD v4 |
| 12 | g.120738652C>T | CA6831114 | ACADS | c.915C>T (p.Thr305=) c.903C>T (p.Thr301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738653A>C | CA386601359 | ACADS | c.916A>C (p.Lys306Gln) c.904A>C (p.Lys302Gln) | |
| 12 | g.120738653A>G | CA386601360 | ACADS | c.916A>G (p.Lys306Glu) c.904A>G (p.Lys302Glu) | |
| 12 | g.120738653A>T | CA386601361 | ACADS | c.916A>T (p.Lys306Ter) c.904A>T (p.Lys302Ter) | ClinVar |
| 12 | g.120738654A>C | CA386601362 | ACADS | c.917A>C (p.Lys306Thr) c.905A>C (p.Lys302Thr) | |
| 12 | g.120738654A>G | CA386601364 | ACADS | c.917A>G (p.Lys306Arg) c.905A>G (p.Lys302Arg) | gnomAD v4 |
| 12 | g.120738654A>T | CA386601363 | ACADS | c.917A>T (p.Lys306Met) c.905A>T (p.Lys302Met) | |
| 12 | g.120738655G>A | CA482146818 | ACADS | c.918G>A (p.Lys306=) c.906G>A (p.Lys302=) | gnomAD v4 |
| 12 | g.120738655G>C | CA386601365 | ACADS | c.918G>C (p.Lys306Asn) c.906G>C (p.Lys302Asn) | |
| 12 | g.120738655G>T | CA386601366 | ACADS | c.918G>T (p.Lys306Asn) c.906G>T (p.Lys302Asn) | gnomAD v4 |
| 12 | g.120738656C>A | CA386601367 | ACADS | c.919C>A (p.Leu307Ile) c.907C>A (p.Leu303Ile) | |
| 12 | g.120738656C>G | CA386601368 | ACADS | c.919C>G (p.Leu307Val) c.907C>G (p.Leu303Val) | |
| 12 | g.120738656C>T | CA386601369 | ACADS | c.919C>T (p.Leu307Phe) c.907C>T (p.Leu303Phe) | gnomAD v4 |
| 12 | g.120738657T>A | CA386601370 | ACADS | c.920T>A (p.Leu307His) c.908T>A (p.Leu303His) | |
| 12 | g.120738657T>C | CA386601371 | ACADS | c.920T>C (p.Leu307Pro) c.908T>C (p.Leu303Pro) | |
| 12 | g.120738657T>G | CA386601372 | ACADS | c.920T>G (p.Leu307Arg) c.908T>G (p.Leu303Arg) | |
| 12 | g.120738658C>A | CA482146824 | ACADS | c.921C>A (p.Leu307=) c.909C>A (p.Leu303=) | |
| 12 | g.120738658C= | CA2067555429 | ACADS | c.921C= (p.Leu307=) c.909C= (p.Leu303=) | |
| 12 | g.120738658C>G | CA482146825 | ACADS | c.921C>G (p.Leu307=) c.909C>G (p.Leu303=) | gnomAD v4 |
| 12 | g.120738658C>T | CA482146826 | ACADS | c.921C>T (p.Leu307=) c.909C>T (p.Leu303=) | dbSNP gnomAD v2 gnomAD v4 |
| 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=) | |
| 12 | g.120738678_120738680del | CA2067555435 | ACADS | c.933+8_933+10del (n.933+8_933+10del) c.921+8_921+10del (n.921+8_921+10del) | dbSNP |
| 12 | g.120738676G>A | CA608059955 | ACADS | c.933+6G>A (n.933+6G>A) c.921+6G>A (n.921+6G>A) | dbSNP gnomAD v2 |
| 12 | g.120738676G= | CA2067555437 | ACADS | c.933+6G= (n.933+6G=) c.921+6G= (n.921+6G=) | |
| 12 | g.120738676G>T | CA2621368791 | ACADS | c.933+6G>T (n.933+6G>T) c.921+6G>T (n.921+6G>T) | gnomAD v4 |
| 12 | g.120738678T>C | CA2797705091 | ACADS | c.933+8T>C (n.933+8T>C) c.921+8T>C (n.921+8T>C) | |
| 12 | g.120738679G>A | CA608059956 | ACADS | c.933+9G>A (n.933+9G>A) c.921+9G>A (n.921+9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738679G= | CA2067555438 | ACADS | c.933+9G= (n.933+9G=) c.921+9G= (n.921+9G=) | |
| 12 | g.120738680G>A | CA2575321501 | ACADS | c.933+10G>A (n.933+10G>A) c.921+10G>A (n.921+10G>A) | |
| 12 | g.120738680G>T | CA2621368798 | ACADS | c.933+10G>T (n.933+10G>T) c.921+10G>T (n.921+10G>T) | gnomAD v4 |
| 12 | g.120738681C>T | CA2575321502 | ACADS | c.933+11C>T (n.933+11C>T) c.921+11C>T (n.921+11C>T) | gnomAD v4 |
| 12 | g.120738682A= | CA2067555439 | ACADS | c.933+12A= (n.933+12A=) c.921+12A= (n.921+12A=) | |
| 12 | g.120738682A>C | CA6831119 | ACADS | c.933+12A>C (n.933+12A>C) c.921+12A>C (n.921+12A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738682A>G | CA482146844 | ACADS | c.933+12A>G (n.933+12A>G) c.921+12A>G (n.921+12A>G) | |
| 12 | g.120738683G>A | CA2621368812 | ACADS | c.933+13G>A (n.933+13G>A) c.921+13G>A (n.921+13G>A) | gnomAD v4 |
| 12 | g.120738683G>T | CA2621368815 | ACADS | c.933+13G>T (n.933+13G>T) c.921+13G>T (n.921+13G>T) | gnomAD v4 |
| 12 | g.120738684C= | CA2067555440 | ACADS | c.933+14C= (n.933+14C=) c.921+14C= (n.921+14C=) | |
| 12 | g.120738684C>G | CA6831120 | ACADS | c.933+14C>G (n.933+14C>G) c.921+14C>G (n.921+14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738687del | CA2621368816 | ACADS | c.933+17del (n.933+17del) c.921+17del (n.921+17del) | gnomAD v4 |
| 12 | g.120738688A= | CA2067555441 | ACADS | c.933+18A= (n.933+18A=) c.921+18A= (n.921+18A=) | |
| 12 | g.120738688A>G | CA608059957 | ACADS | c.933+18A>G (n.933+18A>G) c.921+18A>G (n.921+18A>G) | dbSNP gnomAD v2 |
| 12 | g.120738689G>A | CA2621368819 | ACADS | c.933+19G>A (n.933+19G>A) c.921+19G>A (n.921+19G>A) | gnomAD v4 |
| 12 | g.120738690G>C | CA608059958 | ACADS | c.933+20G>C (n.933+20G>C) c.921+20G>C (n.921+20G>C) | dbSNP gnomAD v2 |
| 12 | g.120738690G= | CA2067555442 | ACADS | c.933+20G= (n.933+20G=) c.921+20G= (n.921+20G=) | |
| 12 | g.120738691_120738696delinsAGCTGG | CA2067555443 | ACADS | c.933+21_933+26delinsAGCTGG (n.933+21_933+26delinsAGCTGG) c.921+21_921+26delinsAGCTGG (n.921+21_921+26delinsAGCTGG) | |
| 12 | g.120738694_120738698del | CA6831121 | ACADS | c.933+24_933+28del (n.933+24_933+28del) c.921+24_921+28del (n.921+24_921+28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738693C>T | CA2621368824 | ACADS | c.933+23C>T (n.933+23C>T) c.921+23C>T (n.921+23C>T) | gnomAD v4 |
| 12 | g.120738695G>C | CA6831122 | ACADS | c.933+25G>C (n.933+25G>C) c.921+25G>C (n.921+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738695G= | CA2067555444 | ACADS | c.933+25G= (n.933+25G=) c.921+25G= (n.921+25G=) | |
| 12 | g.120738697del | CA2621368828 | ACADS | c.933+27del (n.933+27del) c.921+27del (n.921+27del) | gnomAD v4 |
| 12 | g.120738696G>A | CA2575321503 | ACADS | c.933+26G>A (n.933+26G>A) c.921+26G>A (n.921+26G>A) | gnomAD v4 |
| 12 | g.120738696G>C | CA608059959 | ACADS | c.933+26G>C (n.933+26G>C) c.921+26G>C (n.921+26G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738696G= | CA2067555445 | ACADS | c.933+26G= (n.933+26G=) c.921+26G= (n.921+26G=) | |
| 12 | g.120738696G>T | CA2621368840 | ACADS | c.933+26G>T (n.933+26G>T) c.921+26G>T (n.921+26G>T) | gnomAD v4 |
| 12 | g.120738697G>A | CA2575321504 | ACADS | c.933+27G>A (n.933+27G>A) c.921+27G>A (n.921+27G>A) | dbSNP gnomAD v4 |
| 12 | g.120738697G>T | CA2621368845 | ACADS | c.933+27G>T (n.933+27G>T) c.921+27G>T (n.921+27G>T) | gnomAD v4 |
| 12 | g.120738698C>T | CA2621368847 | ACADS | c.933+28C>T (n.933+28C>T) c.921+28C>T (n.921+28C>T) | gnomAD v4 |
| 12 | g.120738701A= | CA2067555446 | ACADS | c.933+31A= (n.933+31A=) c.921+31A= (n.921+31A=) | |
| 12 | g.120738701A>G | CA244494379 | ACADS | c.933+31A>G (n.933+31A>G) c.921+31A>G (n.921+31A>G) | dbSNP gnomAD v4 |
| 12 | g.120738703_120738704del | CA2575321505 | ACADS | c.933+33_933+34del (n.933+33_933+34del) c.921+33_921+34del (n.921+33_921+34del) | |
| 12 | g.120738702G>A | CA2621368857 | ACADS | c.933+32G>A (n.933+32G>A) c.921+32G>A (n.921+32G>A) | gnomAD v4 |
| 12 | g.120738703A>G | CA2621368860 | ACADS | c.933+33A>G (n.933+33A>G) c.921+33A>G (n.921+33A>G) | gnomAD v4 |
| 12 | g.120738705G>A | CA2621368869 | ACADS | c.933+35G>A (n.933+35G>A) c.921+35G>A (n.921+35G>A) | gnomAD v4 |
| 12 | g.120738705G= | CA2067555447 | ACADS | c.933+35G= (n.933+35G=) c.921+35G= (n.921+35G=) | |
| 12 | g.120738705G>T | CA6831123 | ACADS | c.933+35G>T (n.933+35G>T) c.921+35G>T (n.921+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738707T>C | CA6831124 | ACADS | c.933+37T>C (n.933+37T>C) c.921+37T>C (n.921+37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738707T= | CA2067555448 | ACADS | c.933+37T= (n.933+37T=) c.921+37T= (n.921+37T=) | |
| 12 | g.120738709G>T | CA2621368879 | ACADS | c.933+39G>T (n.933+39G>T) c.921+39G>T (n.921+39G>T) | gnomAD v4 |
| 12 | g.120738710A= | CA2067555449 | ACADS | c.933+40A= (n.933+40A=) c.921+40A= (n.921+40A=) | |
| 12 | g.120738710A>G | CA2067555450 | ACADS | c.933+40A>G (n.933+40A>G) c.921+40A>G (n.921+40A>G) | dbSNP gnomAD v4 |
| 12 | g.120738711C>A | CA2621368886 | ACADS | c.933+41C>A (n.933+41C>A) c.921+41C>A (n.921+41C>A) | gnomAD v4 |
| 12 | g.120738711C= | CA2067555451 | ACADS | c.933+41C= (n.933+41C=) c.921+41C= (n.921+41C=) | |
| 12 | g.120738711C>T | CA244494390 | ACADS | c.933+41C>T (n.933+41C>T) c.921+41C>T (n.921+41C>T) | dbSNP |
| 12 | g.120738712A= | CA2067555452 | ACADS | c.933+42A= (n.933+42A=) c.921+42A= (n.921+42A=) | |
| 12 | g.120738712A>G | CA6831125 | ACADS | c.933+42A>G (n.933+42A>G) c.921+42A>G (n.921+42A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738712A>T | CA6831126 | ACADS | c.933+42A>T (n.933+42A>T) c.921+42A>T (n.921+42A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738713G>C | CA2621368894 | ACADS | c.933+43G>C (n.933+43G>C) c.921+43G>C (n.921+43G>C) | gnomAD v4 |
| 12 | g.120738714C>A | CA2621368898 | ACADS | c.933+44C>A (n.933+44C>A) c.921+44C>A (n.921+44C>A) | gnomAD v4 |
| 12 | g.120738714C= | CA2067555453 | ACADS | c.933+44C= (n.933+44C=) c.921+44C= (n.921+44C=) | |
| 12 | g.120738714C>T | CA6831127 | ACADS | c.933+44C>T (n.933+44C>T) c.921+44C>T (n.921+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738715G>A | CA6831128 | ACADS | c.933+45G>A (n.933+45G>A) c.921+45G>A (n.921+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738715G= | CA2067555454 | ACADS | c.933+45G= (n.933+45G=) c.921+45G= (n.921+45G=) | |
| 12 | g.120738715G>T | CA6831129 | ACADS | c.933+45G>T (n.933+45G>T) c.921+45G>T (n.921+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738718C= | CA2067555455 | ACADS | c.933+48C= (n.933+48C=) c.921+48C= (n.921+48C=) | |
| 12 | g.120738718C>T | CA6831130 | ACADS | c.933+48C>T (n.933+48C>T) c.921+48C>T (n.921+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738719G>A | CA6831131 | ACADS | c.933+49G>A (n.933+49G>A) c.921+49G>A (n.921+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738719G>C | CA952543913 | ACADS | c.933+49G>C (n.933+49G>C) c.921+49G>C (n.921+49G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738719G= | CA2067555456 | ACADS | c.933+49G= (n.933+49G=) c.921+49G= (n.921+49G=) | |
| 12 | g.120738722G>A | CA244494459 | ACADS | c.933+52G>A (n.933+52G>A) c.921+52G>A (n.921+52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738722G= | CA2067555457 | ACADS | c.933+52G= (n.933+52G=) c.921+52G= (n.921+52G=) | |
| 12 | g.120738722G>T | CA2621368908 | ACADS | c.933+52G>T (n.933+52G>T) c.921+52G>T (n.921+52G>T) | gnomAD v4 |
| 12 | g.120738723A= | CA2067555458 | ACADS | c.933+53A= (n.933+53A=) c.921+53A= (n.921+53A=) | |
| 12 | g.120738723A>G | CA2575321506 | ACADS | c.933+53A>G (n.933+53A>G) c.921+53A>G (n.921+53A>G) | gnomAD v4 |
| 12 | g.120738723A>T | CA2067555459 | ACADS | c.933+53A>T (n.933+53A>T) c.921+53A>T (n.921+53A>T) | dbSNP |
| 12 | g.120738727_120738728del | CA2621368912 | ACADS | c.933+57_933+58del (n.933+57_933+58del) c.921+57_921+58del (n.921+57_921+58del) | gnomAD v4 |
| 12 | g.120738725T>C | CA2621368915 | ACADS | c.933+55T>C (n.933+55T>C) c.921+55T>C (n.921+55T>C) | gnomAD v4 |
| 12 | g.120738725T>G | CA2067555461 | ACADS | c.933+55T>G (n.933+55T>G) c.921+55T>G (n.921+55T>G) | dbSNP |
| 12 | g.120738725T= | CA2067555460 | ACADS | c.933+55T= (n.933+55T=) c.921+55T= (n.921+55T=) | |
| 12 | g.120738726G>A | CA952543922 | ACADS | c.933+56G>A (n.933+56G>A) c.921+56G>A (n.921+56G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738726G= | CA2067555462 | ACADS | c.933+56G= (n.933+56G=) c.921+56G= (n.921+56G=) | |
| 12 | g.120738728G>A | CA2575321507 | ACADS | c.933+58G>A (n.933+58G>A) c.921+58G>A (n.921+58G>A) | gnomAD v4 |
| 12 | g.120738729G>A | CA2621368919 | ACADS | c.933+59G>A (n.933+59G>A) c.921+59G>A (n.921+59G>A) | gnomAD v4 |
| 12 | g.120738729G= | CA2067555463 | ACADS | c.933+59G= (n.933+59G=) c.921+59G= (n.921+59G=) | |
| 12 | g.120738729G>T | CA952543924 | ACADS | c.933+59G>T (n.933+59G>T) c.921+59G>T (n.921+59G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738730C>A | CA2575321508 | ACADS | c.933+60C>A (n.933+60C>A) c.921+60C>A (n.921+60C>A) | |
| 12 | g.120738730C= | CA2067555464 | ACADS | c.933+60C= (n.933+60C=) c.921+60C= (n.921+60C=) | |
| 12 | g.120738730C>T | CA952543926 | ACADS | c.933+60C>T (n.933+60C>T) c.921+60C>T (n.921+60C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738731C= | CA2067555465 | ACADS | c.933+61C= (n.933+61C=) c.921+61C= (n.921+61C=) | |
| 12 | g.120738731C>G | CA2621368926 | ACADS | c.933+61C>G (n.933+61C>G) c.921+61C>G (n.921+61C>G) | gnomAD v4 |
| 12 | g.120738731C>T | CA952543927 | ACADS | c.933+61C>T (n.933+61C>T) c.921+61C>T (n.921+61C>T) | dbSNP |
| 12 | g.120738733C= | CA2067555466 | ACADS | c.933+63C= (n.933+63C=) c.921+63C= (n.921+63C=) | |
| 12 | g.120738733C>T | CA684418367 | ACADS | c.933+63C>T (n.933+63C>T) c.921+63C>T (n.921+63C>T) | dbSNP gnomAD v4 |
| 12 | g.120738734C>T | CA2575321509 | ACADS | c.933+64C>T (n.933+64C>T) c.921+64C>T (n.921+64C>T) | |
| 12 | g.120738736G>A | CA2067555468 | ACADS | c.933+66G>A (n.933+66G>A) c.921+66G>A (n.921+66G>A) | dbSNP |
| 12 | g.120738736G>C | CA2575321510 | ACADS | c.933+66G>C (n.933+66G>C) c.921+66G>C (n.921+66G>C) | gnomAD v4 |
| 12 | g.120738736G= | CA2067555467 | ACADS | c.933+66G= (n.933+66G=) c.921+66G= (n.921+66G=) |