Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035912_69035936dup | CA2690187681 | FXN | c.130_154dup (p.Pro52HisfsTer?) c.130_154dup (p.Pro52HisfsTer14) c.128_152dup c.130_154dup (p.Pro52HisfsTer15) | gnomAD v4 |
9 | g.69035912A= | CA1854034995 | FXN | c.130A= (p.Thr44=) c.128A= | |
9 | g.69035912A>C | CA373527679 | FXN | c.130A>C (p.Thr44Pro) c.128A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035912A>G | CA373527682 | FXN | c.130A>G (p.Thr44Ala) c.128A>G | |
9 | g.69035912A>T | CA373527683 | FXN | c.130A>T (p.Thr44Ser) c.128A>T | gnomAD v4 |
9 | g.69035913C>A | CA193369109 | FXN | c.131C>A (p.Thr44Asn) c.129C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035913C= | CA1854034996 | FXN | c.131C= (p.Thr44=) c.129C= | |
9 | g.69035913C>G | CA373527689 | FXN | c.131C>G (p.Thr44Ser) c.129C>G | gnomAD v4 |
9 | g.69035913C>T | CA373527687 | FXN | c.131C>T (p.Thr44Ile) c.129C>T | dbSNP |
9 | g.69035914C>A | CA465233201 | FXN | c.132C>A (p.Thr44=) c.130C>A | dbSNP gnomAD v4 |
9 | g.69035914C= | CA1854034997 | FXN | c.132C= (p.Thr44=) c.130C= | |
9 | g.69035914C>G | CA465233200 | FXN | c.132C>G (p.Thr44=) c.130C>G | gnomAD v4 |
9 | g.69035914C>T | CA465233202 | FXN | c.132C>T (p.Thr44=) c.130C>T | dbSNP gnomAD v4 |
9 | g.69035918_69035928dup | CA16622137 | FXN | c.136_146dup (p.Cys50SerfsTer30) c.136_146dup (p.Cys50SerfsTer21) c.134_144dup c.136_146dup (p.Cys50SerfsTer?) | |
9 | g.69035915G>A | CA5072645 | FXN | c.133G>A (p.Asp45Asn) c.131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035915G>C | CA373527692 | FXN | c.133G>C (p.Asp45His) c.131G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035915G= | CA1854034998 | FXN | c.133G= (p.Asp45=) c.131G= | |
9 | g.69035915G>T | CA373527694 | FXN | c.133G>T (p.Asp45Tyr) c.131G>T | gnomAD v4 |
9 | g.69035916A>C | CA373527696 | FXN | c.134A>C (p.Asp45Ala) c.132A>C | |
9 | g.69035916A>G | CA373527697 | FXN | c.134A>G (p.Asp45Gly) c.132A>G | dbSNP gnomAD v4 |
9 | g.69035916A>T | CA373527699 | FXN | c.134A>T (p.Asp45Val) c.132A>T | |
9 | g.69035917C>A | CA373527701 | FXN | c.135C>A (p.Asp45Glu) c.133C>A | gnomAD v4 |
9 | g.69035917C>G | CA373527703 | FXN | c.135C>G (p.Asp45Glu) c.133C>G | |
9 | g.69035917C>T | CA465233203 | FXN | c.135C>T (p.Asp45=) c.133C>T | gnomAD v4 |
9 | g.69035918A= | CA1854034999 | FXN | c.136A= (p.Ile46=) c.134A= | |
9 | g.69035918A>C | CA373527705 | FXN | c.136A>C (p.Ile46Leu) c.134A>C | |
9 | g.69035918A>G | CA373527707 | FXN | c.136A>G (p.Ile46Val) c.134A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035918A>T | CA373527709 | FXN | c.136A>T (p.Ile46Phe) c.134A>T | gnomAD v4 |
9 | g.69035919T>A | CA373527711 | FXN | c.137T>A (p.Ile46Asn) c.135T>A | dbSNP |
9 | g.69035919T>C | CA373527715 | FXN | c.137T>C (p.Ile46Thr) c.135T>C | dbSNP |
9 | g.69035919T>G | CA373527712 | FXN | c.137T>G (p.Ile46Ser) c.135T>G | dbSNP gnomAD v4 |
9 | g.69035919T= | CA1854035000 | FXN | c.137T= (p.Ile46=) c.135T= | |
9 | g.69035920C>A | CA465233204 | FXN | c.138C>A (p.Ile46=) c.136C>A | gnomAD v4 |
9 | g.69035920C= | CA1854035001 | FXN | c.138C= (p.Ile46=) c.136C= | |
9 | g.69035920C>G | CA5072646 | FXN | c.138C>G (p.Ile46Met) c.136C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035920C>T | CA5072647 | FXN | c.138C>T (p.Ile46=) c.136C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035921G>A | CA373527717 | FXN | c.139G>A (p.Asp47Asn) c.137G>A | gnomAD v4 |
9 | g.69035921G>C | CA373527718 | FXN | c.139G>C (p.Asp47His) c.137G>C | |
9 | g.69035921G>T | CA373527721 | FXN | c.139G>T (p.Asp47Tyr) c.137G>T | gnomAD v4 |
9 | g.69035922A>C | CA373527723 | FXN | c.140A>C (p.Asp47Ala) c.138A>C | |
9 | g.69035922A>G | CA373527725 | FXN | c.140A>G (p.Asp47Gly) c.138A>G | |
9 | g.69035922A>T | CA373527728 | FXN | c.140A>T (p.Asp47Val) c.138A>T | |
9 | g.69035923T>A | CA373527733 | FXN | c.141T>A (p.Asp47Glu) c.139T>A | |
9 | g.69035923T>C | CA465233205 | FXN | c.141T>C (p.Asp47=) c.139T>C | gnomAD v4 |
9 | g.69035923T>G | CA373527736 | FXN | c.141T>G (p.Asp47Glu) c.139T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035923T= | CA1854035002 | FXN | c.141T= (p.Asp47=) c.139T= | |
9 | g.69035924G>A | CA373527737 | FXN | c.142G>A (p.Ala48Thr) c.140G>A | dbSNP gnomAD v4 |
9 | g.69035924G>C | CA373527739 | FXN | c.142G>C (p.Ala48Pro) c.140G>C | |
9 | g.69035924G= | CA1854035003 | FXN | c.142G= (p.Ala48=) c.140G= | |
9 | g.69035924G>T | CA373527742 | FXN | c.142G>T (p.Ala48Ser) c.140G>T |