| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
| 22 | g.50626271T>A | CA412175116 | ARSA | c.862A>T (p.Thr288Ser) c.604A>T (p.Thr202Ser) | |
| 22 | g.50626271T>C | CA412175117 | ARSA | c.862A>G (p.Thr288Ala) c.604A>G (p.Thr202Ala) | |
| 22 | g.50626271T>G | CA116005 | ARSA | c.862A>C (p.Thr288Pro) c.604A>C (p.Thr202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626271T= | CA2410958960 | ARSA | c.862A= (p.Thr288=) c.604A= (p.Thr202=) | |
| 22 | g.50626272C>A | CA412175143 | ARSA | c.861G>T (p.Glu287Asp) c.603G>T (p.Glu201Asp) | |
| 22 | g.50626272C>G | CA412175149 | ARSA | c.861G>C (p.Glu287Asp) c.603G>C (p.Glu201Asp) | gnomAD v4 |
| 22 | g.50626272C>T | CA515249010 | ARSA | c.861G>A (p.Glu287=) c.603G>A (p.Glu201=) | ClinVar dbSNP |
| 22 | g.50626273T>A | CA412175172 | ARSA | c.860A>T (p.Glu287Val) c.602A>T (p.Glu201Val) | |
| 22 | g.50626273T>C | CA412175167 | ARSA | c.860A>G (p.Glu287Gly) c.602A>G (p.Glu201Gly) | |
| 22 | g.50626273T>G | CA412175170 | ARSA | c.860A>C (p.Glu287Ala) c.602A>C (p.Glu201Ala) | |
| 22 | g.50626274C>A | CA412175176 | ARSA | c.859G>T (p.Glu287Ter) c.601G>T (p.Glu201Ter) | |
| 22 | g.50626274C= | CA2410958961 | ARSA | c.859G= (p.Glu287=) c.601G= (p.Glu201=) | |
| 22 | g.50626274C>G | CA412175186 | ARSA | c.859G>C (p.Glu287Gln) c.601G>C (p.Glu201Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626274C>T | CA412175189 | ARSA | c.859G>A (p.Glu287Lys) c.601G>A (p.Glu201Lys) | |
| 22 | g.50626275A= | CA2410958962 | ARSA | c.858T= (p.Pro286=) c.600T= (p.Pro200=) | |
| 22 | g.50626275A>C | CA515249012 | ARSA | c.858T>G (p.Pro286=) c.600T>G (p.Pro200=) | |
| 22 | g.50626275A>G | CA325531367 | ARSA | c.858T>C (p.Pro286=) c.600T>C (p.Pro200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626275A>T | CA515249011 | ARSA | c.858T>A (p.Pro286=) c.600T>A (p.Pro200=) | |
| 22 | g.50626276G>A | CA412175197 | ARSA | c.857C>T (p.Pro286Leu) c.599C>T (p.Pro200Leu) | |
| 22 | g.50626276G>C | CA412175199 | ARSA | c.857C>G (p.Pro286Arg) c.599C>G (p.Pro200Arg) | |
| 22 | g.50626276G>T | CA412175202 | ARSA | c.857C>A (p.Pro286His) c.599C>A (p.Pro200His) | |
| 22 | g.50626277G>A | CA412175211 | ARSA | c.856C>T (p.Pro286Ser) c.598C>T (p.Pro200Ser) | |
| 22 | g.50626277G>C | CA412175214 | ARSA | c.856C>G (p.Pro286Ala) c.598C>G (p.Pro200Ala) | |
| 22 | g.50626277G= | CA2410958963 | ARSA | c.856C= (p.Pro286=) c.598C= (p.Pro200=) | |
| 22 | g.50626277G>T | CA412175220 | ARSA | c.856C>A (p.Pro286Thr) c.598C>A (p.Pro200Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626278T>A | CA515249013 | ARSA | c.855A>T (p.Gly285=) c.597A>T (p.Gly199=) | |
| 22 | g.50626278T>C | CA515249014 | ARSA | c.855A>G (p.Gly285=) c.597A>G (p.Gly199=) | gnomAD v4 |
| 22 | g.50626278T>G | CA515249015 | ARSA | c.855A>C (p.Gly285=) c.597A>C (p.Gly199=) | gnomAD v4 |
| 22 | g.50626279C>A | CA412175235 | ARSA | c.855-1G>T (n.855-1G>T) c.597-1G>T (n.597-1G>T) | |
| 22 | g.50626279C= | CA2410958964 | ARSA | c.855-1G= (n.855-1G=) c.597-1G= (n.597-1G=) | |
| 22 | g.50626279C>G | CA412175240 | ARSA | c.855-1G>C (n.855-1G>C) c.597-1G>C (n.597-1G>C) | |
| 22 | g.50626279C>T | CA10324892 | ARSA | c.855-1G>A (n.855-1G>A) c.597-1G>A (n.597-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626280T>A | CA412175246 | ARSA | c.855-2A>T (n.855-2A>T) c.597-2A>T (n.597-2A>T) | |
| 22 | g.50626280T>C | CA412175253 | ARSA | c.855-2A>G (n.855-2A>G) c.597-2A>G (n.597-2A>G) | |
| 22 | g.50626280T>G | CA412175258 | ARSA | c.855-2A>C (n.855-2A>C) c.597-2A>C (n.597-2A>C) | |
| 22 | g.50626281G>A | CA640358668 | ARSA | c.855-3C>T (n.855-3C>T) c.597-3C>T (n.597-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626281G= | CA2410958965 | ARSA | c.855-3C= (n.855-3C=) c.597-3C= (n.597-3C=) | |
| 22 | g.50626281G>T | CA2657592620 | ARSA | c.855-3C>A (n.855-3C>A) c.597-3C>A (n.597-3C>A) | gnomAD v4 |
| 22 | g.50626282G>A | CA10324893 | ARSA | c.855-4C>T (n.855-4C>T) c.597-4C>T (n.597-4C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50626282G= | CA2410958966 | ARSA | c.855-4C= (n.855-4C=) c.597-4C= (n.597-4C=) | |
| 22 | g.50626282G>T | CA2577767939 | ARSA | c.855-4C>A (n.855-4C>A) c.597-4C>A (n.597-4C>A) | gnomAD v4 |
| 22 | g.50626283G>A | CA10324894 | ARSA | c.855-5C>T (n.855-5C>T) c.597-5C>T (n.597-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626283G= | CA2410958967 | ARSA | c.855-5C= (n.855-5C=) c.597-5C= (n.597-5C=) | |
| 22 | g.50626283G>T | CA2410958968 | ARSA | c.855-5C>A (n.855-5C>A) c.597-5C>A (n.597-5C>A) | dbSNP gnomAD v4 |
| 22 | g.50626285C>T | CA2657592629 | ARSA | c.855-7G>A (n.855-7G>A) c.597-7G>A (n.597-7G>A) | gnomAD v4 |
| 22 | g.50626286A= | CA2410958969 | ARSA | c.855-8T= (n.855-8T=) c.597-8T= (n.597-8T=) | |
| 22 | g.50626286A>T | CA640358669 | ARSA | c.855-8T>A (n.855-8T>A) c.597-8T>A (n.597-8T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626287C>T | CA2657592633 | ARSA | c.855-9G>A (n.855-9G>A) c.597-9G>A (n.597-9G>A) | gnomAD v4 |
| 22 | g.50626288A>G | CA2657592634 | ARSA | c.855-10T>C (n.855-10T>C) c.597-10T>C (n.597-10T>C) | gnomAD v4 |