| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624069T>A | CA10653690 | ARSA | c.*1076A>T (n.*1076A>T) c.181-174A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624069T>C | CA2410957791 | ARSA | c.*1076A>G (n.*1076A>G) c.181-174A>G | dbSNP |
| 22 | g.50624069T= | CA2410957790 | ARSA | c.*1076A= (n.*1076A=) c.181-174A= | |
| 22 | g.50624072C>A | CA325530885 | ARSA | c.*1073G>T (n.*1073G>T) c.181-177G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624072C= | CA2410957792 | ARSA | c.*1073G= (n.*1073G=) c.181-177G= | |
| 22 | g.50624072C>T | CA325530886 | ARSA | c.*1073G>A (n.*1073G>A) c.181-177G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624073A= | CA2410957793 | ARSA | c.*1072T= (n.*1072T=) c.181-178T= | |
| 22 | g.50624073A>G | CA2410957794 | ARSA | c.*1072T>C (n.*1072T>C) c.181-178T>C | dbSNP |
| 22 | g.50624073A>T | CA2410957795 | ARSA | c.*1072T>A (n.*1072T>A) c.181-178T>A | dbSNP |
| 22 | g.50624074G>A | CA640051298 | ARSA | c.*1071C>T (n.*1071C>T) c.181-179C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624074G>C | CA640051300 | ARSA | c.*1071C>G (n.*1071C>G) c.181-179C>G | dbSNP gnomAD v2 |
| 22 | g.50624074G= | CA2410957796 | ARSA | c.*1071C= (n.*1071C=) c.181-179C= | |
| 22 | g.50624074G>T | CA325530889 | ARSA | c.*1071C>A (n.*1071C>A) c.181-179C>A | dbSNP |
| 22 | g.50624078T>A | CA640051301 | ARSA | c.*1067A>T (n.*1067A>T) c.181-183A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624078T= | CA2410957797 | ARSA | c.*1067A= (n.*1067A=) c.181-183A= | |
| 22 | g.50624082G= | CA2410957798 | ARSA | c.*1063C= (n.*1063C=) c.181-187C= | |
| 22 | g.50624088dup | CA10654219 | ARSA | c.*1062dup (n.*1062dup) c.181-188dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624084T>C | CA325530894 | ARSA | c.*1061A>G (n.*1061A>G) c.181-189A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624084T= | CA2410957799 | ARSA | c.*1061A= (n.*1061A=) c.181-189A= | |
| 22 | g.50624089G>C | CA2410957801 | ARSA | c.*1056C>G (n.*1056C>G) c.181-194C>G | dbSNP |
| 22 | g.50624089G= | CA2410957800 | ARSA | c.*1056C= (n.*1056C=) c.181-194C= | |
| 22 | g.50624091G>A | CA2410957804 | ARSA | c.*1054C>T (n.*1054C>T) c.181-196C>T | dbSNP |
| 22 | g.50624091G= | CA2410957803 | ARSA | c.*1054C= (n.*1054C=) c.181-196C= | |
| 22 | g.50624091_50624093delinsGAC | CA2410957802 | ARSA | c.*1052_*1054delinsGTC (n.*1052_*1054delinsGTC) c.181-198_181-196delinsGTC | |
| 22 | g.50624093_50624094del | CA640051303 | ARSA | c.*1052_*1053del (n.*1052_*1053del) c.181-198_181-197del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624093_50624095delinsCAG | CA2410957805 | ARSA | c.*1050_*1052delinsCTG (n.*1050_*1052delinsCTG) c.181-200_181-198delinsCTG | |
| 22 | g.50624094A= | CA2410957806 | ARSA | c.*1051T= (n.*1051T=) c.181-199T= | |
| 22 | g.50624094A>G | CA2410957807 | ARSA | c.*1051T>C (n.*1051T>C) c.181-199T>C | dbSNP |
| 22 | g.50624096_50624097del | CA754066506 | ARSA | c.*1050_*1051del (n.*1050_*1051del) c.181-200_181-199del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624095G>C | CA640051305 | ARSA | c.*1050C>G (n.*1050C>G) c.181-200C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624095G= | CA2410957808 | ARSA | c.*1050C= (n.*1050C=) c.181-200C= | |
| 22 | g.50624096A= | CA2410957809 | ARSA | c.*1049T= (n.*1049T=) c.181-201T= | |
| 22 | g.50624096A>G | CA640051306 | ARSA | c.*1049T>C (n.*1049T>C) c.181-201T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624096A>T | CA325530897 | ARSA | c.*1049T>A (n.*1049T>A) c.181-201T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624102T>G | CA1026679040 | ARSA | c.*1043A>C (n.*1043A>C) c.181-207A>C | gnomAD v3 gnomAD v4 |
| 22 | g.50624104T>C | CA640051308 | ARSA | c.*1041A>G (n.*1041A>G) c.181-209A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624104T= | CA2410957810 | ARSA | c.*1041A= (n.*1041A=) c.181-209A= | |
| 22 | g.50624105_50624107delinsCTT | CA2410957811 | ARSA | c.*1038_*1040delinsAAG (n.*1038_*1040delinsAAG) c.181-212_181-210delinsAAG | |
| 22 | g.50624106_50624107del | CA754066546 | ARSA | c.*1038_*1039del (n.*1038_*1039del) c.181-212_181-211del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624108G>A | CA2410957813 | ARSA | c.*1037C>T (n.*1037C>T) c.181-213C>T | dbSNP |
| 22 | g.50624108G= | CA2410957812 | ARSA | c.*1037C= (n.*1037C=) c.181-213C= | |
| 22 | g.50624111_50624112delinsGC | CA2410957814 | ARSA | c.*1033_*1034delinsGC (n.*1033_*1034delinsGC) c.181-217_181-216delinsGC | |
| 22 | g.50624114del | CA754066550 | ARSA | c.*1033del (n.*1033del) c.181-217del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624115A= | CA2410957815 | ARSA | c.*1030T= (n.*1030T=) c.181-220T= | |
| 22 | g.50624115A>G | CA640051310 | ARSA | c.*1030T>C (n.*1030T>C) c.181-220T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624120G>C | CA2410957817 | ARSA | c.*1025C>G (n.*1025C>G) c.181-225C>G | dbSNP |
| 22 | g.50624120G= | CA2410957816 | ARSA | c.*1025C= (n.*1025C=) c.181-225C= | |
| 22 | g.50624121G>A | CA2410957819 | ARSA | c.*1024C>T (n.*1024C>T) c.181-226C>T | dbSNP |
| 22 | g.50624121G= | CA2410957818 | ARSA | c.*1024C= (n.*1024C=) c.181-226C= | |
| 22 | g.50624124T>C | CA2410957821 | ARSA | c.*1021A>G (n.*1021A>G) c.181-229A>G | dbSNP |