| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624574C>A | CA2410958059 | ARSA | c.*571G>T (n.*571G>T) c.181-679G>T | dbSNP |
| 22 | g.50624574C= | CA2410958058 | ARSA | c.*571G= (n.*571G=) c.181-679G= | |
| 22 | g.50624574C>T | CA2410958060 | ARSA | c.*571G>A (n.*571G>A) c.181-679G>A | dbSNP |
| 22 | g.50624578G>C | CA325531000 | ARSA | c.*567C>G (n.*567C>G) c.181-683C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624578G= | CA2410958061 | ARSA | c.*567C= (n.*567C=) c.181-683C= | |
| 22 | g.50624580G>A | CA754066820 | ARSA | c.*565C>T (n.*565C>T) c.181-685C>T | dbSNP |
| 22 | g.50624580G>C | CA325531001 | ARSA | c.*565C>G (n.*565C>G) c.181-685C>G | dbSNP |
| 22 | g.50624580G= | CA2410958062 | ARSA | c.*565C= (n.*565C=) c.181-685C= | |
| 22 | g.50624581T>C | CA754066831 | ARSA | c.*564A>G (n.*564A>G) c.181-686A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624581T= | CA2410958063 | ARSA | c.*564A= (n.*564A=) c.181-686A= | |
| 22 | g.50624582G>A | CA1026679318 | ARSA | c.*563C>T (n.*563C>T) c.181-687C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624582G= | CA2410958064 | ARSA | c.*563C= (n.*563C=) c.181-687C= | |
| 22 | g.50624590C>A | CA2819315717 | ARSA | c.*555G>T (n.*555G>T) c.181-695G>T | |
| 22 | g.50624596C= | CA2410958065 | ARSA | c.*549G= (n.*549G=) c.181-701G= | |
| 22 | g.50624596C>T | CA325531003 | ARSA | c.*549G>A (n.*549G>A) c.181-701G>A | dbSNP |
| 22 | g.50624603C= | CA2410958066 | ARSA | c.*542G= (n.*542G=) c.181-708G= | |
| 22 | g.50624603C>G | CA325531004 | ARSA | c.*542G>C (n.*542G>C) c.181-708G>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624609G>A | CA754066836 | ARSA | c.*536C>T (n.*536C>T) c.181-714C>T | dbSNP |
| 22 | g.50624609G>C | CA914705016 | ARSA | c.*536C>G (n.*536C>G) c.181-714C>G | gnomAD v2 |
| 22 | g.50624609G= | CA2410958067 | ARSA | c.*536C= (n.*536C=) c.181-714C= | |
| 22 | g.50624617A= | CA2410958068 | ARSA | c.*528T= (n.*528T=) c.181-722T= | |
| 22 | g.50624617A>G | CA325531006 | ARSA | c.*528T>C (n.*528T>C) c.181-722T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624618T>C | CA325531007 | ARSA | c.*527A>G (n.*527A>G) c.181-723A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624618T= | CA2410958069 | ARSA | c.*527A= (n.*527A=) c.181-723A= | |
| 22 | g.50624619A= | CA2410958070 | ARSA | c.*526T= (n.*526T=) c.181-724T= | |
| 22 | g.50624619A>C | CA640051344 | ARSA | c.*526T>G (n.*526T>G) c.181-724T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624619A>G | CA754066842 | ARSA | c.*526T>C (n.*526T>C) c.181-724T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624628G>C | CA325531009 | ARSA | c.*517C>G (n.*517C>G) c.181-733C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624628G= | CA2410958071 | ARSA | c.*517C= (n.*517C=) c.181-733C= | |
| 22 | g.50624629G>A | CA2410958073 | ARSA | c.*516C>T (n.*516C>T) c.181-734C>T | dbSNP |
| 22 | g.50624629G= | CA2410958072 | ARSA | c.*516C= (n.*516C=) c.181-734C= | |
| 22 | g.50624630A= | CA2410958074 | ARSA | c.*515T= (n.*515T=) c.180+733T= | |
| 22 | g.50624630A>T | CA2410958075 | ARSA | c.*515T>A (n.*515T>A) c.180+733T>A | dbSNP |
| 22 | g.50624631G>A | CA1026679328 | ARSA | c.*514C>T (n.*514C>T) c.180+732C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624631G= | CA2410958076 | ARSA | c.*514C= (n.*514C=) c.180+732C= | |
| 22 | g.50624637G>C | CA2410958078 | ARSA | c.*508C>G (n.*508C>G) c.180+726C>G | dbSNP |
| 22 | g.50624637G= | CA2410958077 | ARSA | c.*508C= (n.*508C=) c.180+726C= | |
| 22 | g.50624640C>T | CA2819315727 | ARSA | c.*505G>A (n.*505G>A) c.180+723G>A | |
| 22 | g.50624642T>C | CA10651565 | ARSA | c.*503A>G (n.*503A>G) c.180+721A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624642T= | CA2410958079 | ARSA | c.*503A= (n.*503A=) c.180+721A= | |
| 22 | g.50624644T>A | CA2738227675 | ARSA | c.*501A>T (n.*501A>T) c.180+719A>T | dbSNP |
| 22 | g.50624644T= | CA2410958080 | ARSA | c.*501A= (n.*501A=) c.180+719A= | |
| 22 | g.50624645dup | CA754066853 | ARSA | c.*500dup (n.*500dup) c.180+718dup | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624649C>A | CA2819315733 | ARSA | c.*496G>T (n.*496G>T) c.180+714G>T | |
| 22 | g.50624657G>A | CA754066854 | ARSA | c.*488C>T (n.*488C>T) c.180+706C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624657G= | CA2410958081 | ARSA | c.*488C= (n.*488C=) c.180+706C= | |
| 22 | g.50624660T>C | CA2410958083 | ARSA | c.*485A>G (n.*485A>G) c.180+703A>G | dbSNP |
| 22 | g.50624660T= | CA2410958082 | ARSA | c.*485A= (n.*485A=) c.180+703A= | |
| 22 | g.50624665_50624666delinsTG | CA2410958084 | ARSA | c.*479_*480delinsCA (n.*479_*480delinsCA) c.180+697_180+698delinsCA | |
| 22 | g.50624666G>C | CA325531013 | ARSA | c.*479C>G (n.*479C>G) c.180+697C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624666G= | CA2410958085 | ARSA | c.*479C= (n.*479C=) c.180+697C= | |
| 22 | g.50624670del | CA920392308 | ARSA | c.*479del (n.*479del) c.180+697del | dbSNP |
| 22 | g.50624667G>C | CA1026679336 | ARSA | c.*478C>G (n.*478C>G) c.180+696C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624667G= | CA2410958086 | ARSA | c.*478C= (n.*478C=) c.180+696C= | |
| 22 | g.50624668G>A | CA325531017 | ARSA | c.*477C>T (n.*477C>T) c.180+695C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624668G= | CA2410958087 | ARSA | c.*477C= (n.*477C=) c.180+695C= | |
| 22 | g.50624668G>T | CA2410958088 | ARSA | c.*477C>A (n.*477C>A) c.180+695C>A | dbSNP |
| 22 | g.50624672A= | CA2410958089 | ARSA | c.*473T= (n.*473T=) c.180+691T= | |
| 22 | g.50624672A>G | CA754066856 | ARSA | c.*473T>C (n.*473T>C) c.180+691T>C | dbSNP |
| 22 | g.50624673T>A | CA2738181085 | ARSA | c.*472A>T (n.*472A>T) c.180+690A>T | dbSNP |
| 22 | g.50624673T>C | CA1026679339 | ARSA | c.*472A>G (n.*472A>G) c.180+690A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624673T= | CA2410958090 | ARSA | c.*472A= (n.*472A=) c.180+690A= |