| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627298_50627364del | CA2697552823 | ARSA | c.269_335del (p.Tyr90SerfsTer?) c.11_77del (p.Tyr4SerfsTer?) n.660_726del | ClinVar |
| 22 | g.50627304C>A | CA515391548 | ARSA | c.327G>T (p.Val109=) c.69G>T (p.Val23=) n.718G>T | gnomAD v4 |
| 22 | g.50627304C= | CA2410959541 | ARSA | c.327G= (p.Val109=) c.69G= (p.Val23=) n.718G= | |
| 22 | g.50627304C>G | CA10325053 | ARSA | c.327G>C (p.Val109=) c.69G>C (p.Val23=) n.718G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627304C>T | CA325531589 | ARSA | c.327G>A (p.Val109=) c.69G>A (p.Val23=) n.718G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627305A>C | CA412181176 | ARSA | c.326T>G (p.Val109Gly) c.68T>G (p.Val23Gly) n.717T>G | |
| 22 | g.50627305A>G | CA412181180 | ARSA | c.326T>C (p.Val109Ala) c.68T>C (p.Val23Ala) n.717T>C | ClinVar |
| 22 | g.50627305A>T | CA412181185 | ARSA | c.326T>A (p.Val109Glu) c.68T>A (p.Val23Glu) n.717T>A | |
| 22 | g.50627306C>A | CA412181193 | ARSA | c.325G>T (p.Val109Leu) c.67G>T (p.Val23Leu) n.716G>T | |
| 22 | g.50627306C= | CA2410959542 | ARSA | c.325G= (p.Val109=) c.67G= (p.Val23=) n.716G= | |
| 22 | g.50627306C>G | CA412181194 | ARSA | c.325G>C (p.Val109Leu) c.67G>C (p.Val23Leu) n.716G>C | |
| 22 | g.50627306C>T | CA10325054 | ARSA | c.325G>A (p.Val109Met) c.67G>A (p.Val23Met) n.716G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627307G>A | CA10325055 | ARSA | c.324C>T (p.Thr108=) c.66C>T (p.Thr22=) n.715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627307G>C | CA515391549 | ARSA | c.324C>G (p.Thr108=) c.66C>G (p.Thr22=) n.715C>G | gnomAD v4 |
| 22 | g.50627307G= | CA2410959543 | ARSA | c.324C= (p.Thr108=) c.66C= (p.Thr22=) n.715C= | |
| 22 | g.50627307G>T | CA515391550 | ARSA | c.324C>A (p.Thr108=) c.66C>A (p.Thr22=) n.715C>A | gnomAD v4 |
| 22 | g.50627308G>A | CA412181209 | ARSA | c.323C>T (p.Thr108Ile) c.65C>T (p.Thr22Ile) n.714C>T | ClinVar |
| 22 | g.50627308G>C | CA412181218 | ARSA | c.323C>G (p.Thr108Ser) c.65C>G (p.Thr22Ser) n.714C>G | |
| 22 | g.50627308G>T | CA412181222 | ARSA | c.323C>A (p.Thr108Asn) c.65C>A (p.Thr22Asn) n.714C>A | |
| 22 | g.50627309T>A | CA412181228 | ARSA | c.322A>T (p.Thr108Ser) c.64A>T (p.Thr22Ser) n.713A>T | |
| 22 | g.50627309T>C | CA412181231 | ARSA | c.322A>G (p.Thr108Ala) c.64A>G (p.Thr22Ala) n.713A>G | |
| 22 | g.50627309T>G | CA412181240 | ARSA | c.322A>C (p.Thr108Pro) c.64A>C (p.Thr22Pro) n.713A>C | |
| 22 | g.50627310C>A | CA515391551 | ARSA | c.321G>T (p.Val107=) c.63G>T (p.Val21=) n.712G>T | gnomAD v4 |
| 22 | g.50627310C>G | CA515391553 | ARSA | c.321G>C (p.Val107=) c.63G>C (p.Val21=) n.712G>C | |
| 22 | g.50627310C>T | CA515391552 | ARSA | c.321G>A (p.Val107=) c.63G>A (p.Val21=) n.712G>A | |
| 22 | g.50627311A>C | CA412181244 | ARSA | c.320T>G (p.Val107Gly) c.62T>G (p.Val21Gly) n.711T>G | |
| 22 | g.50627311A>G | CA412181260 | ARSA | c.320T>C (p.Val107Ala) c.62T>C (p.Val21Ala) n.711T>C | |
| 22 | g.50627311A>T | CA412181249 | ARSA | c.320T>A (p.Val107Glu) c.62T>A (p.Val21Glu) n.711T>A | |
| 22 | g.50627312C>A | CA412181265 | ARSA | c.319G>T (p.Val107Leu) c.61G>T (p.Val21Leu) n.710G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627312C= | CA2410959544 | ARSA | c.319G= (p.Val107=) c.61G= (p.Val21=) n.710G= | |
| 22 | g.50627312C>G | CA412181267 | ARSA | c.319G>C (p.Val107Leu) c.61G>C (p.Val21Leu) n.710G>C | |
| 22 | g.50627312C>T | CA412181266 | ARSA | c.319G>A (p.Val107Met) c.61G>A (p.Val21Met) n.710G>A | gnomAD v4 |
| 22 | g.50627313C>A | CA412181271 | ARSA | c.318G>T (p.Glu106Asp) c.60G>T (p.Glu20Asp) n.709G>T | gnomAD v4 |
| 22 | g.50627313C= | CA2410959545 | ARSA | c.318G= (p.Glu106=) c.60G= (p.Glu20=) n.709G= | |
| 22 | g.50627313C>G | CA412181277 | ARSA | c.318G>C (p.Glu106Asp) c.60G>C (p.Glu20Asp) n.709G>C | |
| 22 | g.50627313C>T | CA10325056 | ARSA | c.318G>A (p.Glu106=) c.60G>A (p.Glu20=) n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627314T>A | CA412181287 | ARSA | c.317A>T (p.Glu106Val) c.59A>T (p.Glu20Val) n.708A>T | |
| 22 | g.50627314T>C | CA412181289 | ARSA | c.317A>G (p.Glu106Gly) c.59A>G (p.Glu20Gly) n.708A>G | gnomAD v4 |
| 22 | g.50627314T>G | CA412181291 | ARSA | c.317A>C (p.Glu106Ala) c.59A>C (p.Glu20Ala) n.708A>C | |
| 22 | g.50627315C>A | CA412181292 | ARSA | c.316G>T (p.Glu106Ter) c.58G>T (p.Glu20Ter) n.707G>T | gnomAD v4 |
| 22 | g.50627315C>G | CA412181293 | ARSA | c.316G>C (p.Glu106Gln) c.58G>C (p.Glu20Gln) n.707G>C | |
| 22 | g.50627315C>T | CA412181297 | ARSA | c.316G>A (p.Glu106Lys) c.58G>A (p.Glu20Lys) n.707G>A | gnomAD v4 |
| 22 | g.50627316C>A | CA412181301 | ARSA | c.315G>T (p.Glu105Asp) c.57G>T (p.Glu19Asp) n.706G>T | |
| 22 | g.50627316C>G | CA412181303 | ARSA | c.315G>C (p.Glu105Asp) c.57G>C (p.Glu19Asp) n.706G>C | |
| 22 | g.50627316C>T | CA515391554 | ARSA | c.315G>A (p.Glu105=) c.57G>A (p.Glu19=) n.706G>A | |
| 22 | g.50627317T>A | CA412181316 | ARSA | c.314A>T (p.Glu105Val) c.56A>T (p.Glu19Val) n.705A>T | |
| 22 | g.50627317T>C | CA412181315 | ARSA | c.314A>G (p.Glu105Gly) c.56A>G (p.Glu19Gly) n.705A>G | gnomAD v4 |
| 22 | g.50627317T>G | CA412181311 | ARSA | c.314A>C (p.Glu105Ala) c.56A>C (p.Glu19Ala) n.705A>C | |
| 22 | g.50627318C>A | CA412181317 | ARSA | c.313G>T (p.Glu105Ter) c.55G>T (p.Glu19Ter) n.704G>T | gnomAD v4 |
| 22 | g.50627318C>G | CA412181318 | ARSA | c.313G>C (p.Glu105Gln) c.55G>C (p.Glu19Gln) n.704G>C |