| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627209_50627241del | CA2573158321 | ARSA | c.393_425del (p.Pro132_Gly142del) c.135_167del (p.Pro46_Gly56del) n.784_816del | ClinVar dbSNP |
| 22 | g.50627232_50627241del | CA2657593850 | ARSA | c.397_406del (p.Glu133SerfsTer12) c.139_148del (p.Glu47SerfsTer12) n.788_797del | gnomAD v4 |
| 22 | g.50627238C>A | CA515391461 | ARSA | c.393G>T (p.Gly131=) c.135G>T (p.Gly45=) n.784G>T | gnomAD v4 |
| 22 | g.50627238C>G | CA515391462 | ARSA | c.393G>C (p.Gly131=) c.135G>C (p.Gly45=) n.784G>C | |
| 22 | g.50627238C>T | CA515391464 | ARSA | c.393G>A (p.Gly131=) c.135G>A (p.Gly45=) n.784G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627239C>A | CA412180573 | ARSA | c.392G>T (p.Gly131Val) c.134G>T (p.Gly45Val) n.783G>T | |
| 22 | g.50627239C= | CA2410959504 | ARSA | c.392G= (p.Gly131=) c.134G= (p.Gly45=) n.783G= | |
| 22 | g.50627239C>G | CA412180575 | ARSA | c.392G>C (p.Gly131Ala) c.134G>C (p.Gly45Ala) n.783G>C | |
| 22 | g.50627239C>T | CA412180582 | ARSA | c.392G>A (p.Gly131Glu) c.134G>A (p.Gly45Glu) n.783G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627240C>A | CA412180591 | ARSA | c.391G>T (p.Gly131Trp) c.133G>T (p.Gly45Trp) n.782G>T | gnomAD v4 |
| 22 | g.50627240C>G | CA412180595 | ARSA | c.391G>C (p.Gly131Arg) c.133G>C (p.Gly45Arg) n.782G>C | |
| 22 | g.50627240C>T | CA412180598 | ARSA | c.391G>A (p.Gly131Arg) c.133G>A (p.Gly45Arg) n.782G>A | |
| 22 | g.50627241C>A | CA515391466 | ARSA | c.390G>T (p.Val130=) c.132G>T (p.Val44=) n.781G>T | gnomAD v4 |
| 22 | g.50627241C>G | CA515391467 | ARSA | c.390G>C (p.Val130=) c.132G>C (p.Val44=) n.781G>C | |
| 22 | g.50627241C>T | CA515391468 | ARSA | c.390G>A (p.Val130=) c.132G>A (p.Val44=) n.781G>A | |
| 22 | g.50627242A>C | CA412180607 | ARSA | c.389T>G (p.Val130Gly) c.131T>G (p.Val44Gly) n.780T>G | dbSNP |
| 22 | g.50627242A>G | CA412180604 | ARSA | c.389T>C (p.Val130Ala) c.131T>C (p.Val44Ala) n.780T>C | |
| 22 | g.50627242A>T | CA412180603 | ARSA | c.389T>A (p.Val130Glu) c.131T>A (p.Val44Glu) n.780T>A | |
| 22 | g.50627243C>A | CA412180612 | ARSA | c.388G>T (p.Val130Leu) c.130G>T (p.Val44Leu) n.779G>T | dbSNP |
| 22 | g.50627243C= | CA2410959505 | ARSA | c.388G= (p.Val130=) c.130G= (p.Val44=) n.779G= | |
| 22 | g.50627243C>G | CA412180621 | ARSA | c.388G>C (p.Val130Leu) c.130G>C (p.Val44Leu) n.779G>C | |
| 22 | g.50627243C>T | CA412180625 | ARSA | c.388G>A (p.Val130Met) c.130G>A (p.Val44Met) n.779G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627244C>A | CA515391471 | ARSA | c.387G>T (p.Gly129=) c.129G>T (p.Gly43=) n.778G>T | gnomAD v4 |
| 22 | g.50627244C= | CA2410959506 | ARSA | c.387G= (p.Gly129=) c.129G= (p.Gly43=) n.778G= | |
| 22 | g.50627244C>G | CA10325042 | ARSA | c.387G>C (p.Gly129=) c.129G>C (p.Gly43=) n.778G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627244C>T | CA515391472 | ARSA | c.387G>A (p.Gly129=) c.129G>A (p.Gly43=) n.778G>A | gnomAD v4 |
| 22 | g.50627245C>A | CA412180636 | ARSA | c.386G>T (p.Gly129Val) c.128G>T (p.Gly43Val) n.777G>T | gnomAD v4 |
| 22 | g.50627245C>G | CA412180644 | ARSA | c.386G>C (p.Gly129Ala) c.128G>C (p.Gly43Ala) n.777G>C | |
| 22 | g.50627245C>T | CA412180652 | ARSA | c.386G>A (p.Gly129Glu) c.128G>A (p.Gly43Glu) n.777G>A | ClinVar |
| 22 | g.50627246C>A | CA412180654 | ARSA | c.385G>T (p.Gly129Trp) c.127G>T (p.Gly43Trp) n.776G>T | |
| 22 | g.50627246C= | CA2410959507 | ARSA | c.385G= (p.Gly129=) c.127G= (p.Gly43=) n.776G= | |
| 22 | g.50627246C>G | CA412180656 | ARSA | c.385G>C (p.Gly129Arg) c.127G>C (p.Gly43Arg) n.776G>C | |
| 22 | g.50627246C>T | CA10325043 | ARSA | c.385G>A (p.Gly129Arg) c.127G>A (p.Gly43Arg) n.776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627247A>C | CA515391476 | ARSA | c.384T>G (p.Leu128=) c.126T>G (p.Leu42=) n.775T>G | |
| 22 | g.50627247A>G | CA515391475 | ARSA | c.384T>C (p.Leu128=) c.126T>C (p.Leu42=) n.775T>C | |
| 22 | g.50627247A>T | CA515391474 | ARSA | c.384T>A (p.Leu128=) c.126T>A (p.Leu42=) n.775T>A | |
| 22 | g.50627247_50627257del | CA2657593856 | ARSA | c.374_384del (p.Lys125ArgfsTer5) c.116_126del (p.Lys39ArgfsTer5) n.765_775del | gnomAD v4 |
| 22 | g.50627248A= | CA2410959508 | ARSA | c.383T= (p.Leu128=) c.125T= (p.Leu42=) n.774T= | |
| 22 | g.50627248A>C | CA412180668 | ARSA | c.383T>G (p.Leu128Arg) c.125T>G (p.Leu42Arg) n.774T>G | dbSNP |
| 22 | g.50627248A>G | CA412180671 | ARSA | c.383T>C (p.Leu128Pro) c.125T>C (p.Leu42Pro) n.774T>C | |
| 22 | g.50627248A>T | CA412180685 | ARSA | c.383T>A (p.Leu128His) c.125T>A (p.Leu42His) n.774T>A | |
| 22 | g.50627249G>A | CA412180691 | ARSA | c.382C>T (p.Leu128Phe) c.124C>T (p.Leu42Phe) n.773C>T | |
| 22 | g.50627249G>C | CA412180697 | ARSA | c.382C>G (p.Leu128Val) c.124C>G (p.Leu42Val) n.773C>G | |
| 22 | g.50627249G>T | CA412180696 | ARSA | c.382C>A (p.Leu128Ile) c.124C>A (p.Leu42Ile) n.773C>A | |
| 22 | g.50627250G>A | CA515391480 | ARSA | c.381C>T (p.His127=) c.123C>T (p.His41=) n.772C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627250G>C | CA412180700 | ARSA | c.381C>G (p.His127Gln) c.123C>G (p.His41Gln) n.772C>G | |
| 22 | g.50627250G= | CA2410959509 | ARSA | c.381C= (p.His127=) c.123C= (p.His41=) n.772C= | |
| 22 | g.50627250G>T | CA412180701 | ARSA | c.381C>A (p.His127Gln) c.123C>A (p.His41Gln) n.772C>A | |
| 22 | g.50627251T>A | CA412180704 | ARSA | c.380A>T (p.His127Leu) c.122A>T (p.His41Leu) n.771A>T | |
| 22 | g.50627251T>C | CA412180706 | ARSA | c.380A>G (p.His127Arg) c.122A>G (p.His41Arg) n.771A>G |