Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50624946G>A | CA2657590078 | ARSA | c.*199C>T (n.*199C>T) c.180+417C>T | gnomAD v4 |
22 | g.50624946G>T | CA2657590080 | ARSA | c.*199C>A (n.*199C>A) c.180+417C>A | gnomAD v4 |
22 | g.50624947C>A | CA2657590081 | ARSA | c.*198G>T (n.*198G>T) c.180+416G>T | gnomAD v4 |
22 | g.50624947C>T | CA2657590082 | ARSA | c.*198G>A (n.*198G>A) c.180+416G>A | gnomAD v4 |
22 | g.50624947_50624948insTCAA | CA2657590083 | ARSA | c.*197_*198insTTGA (n.*197_*198insTTGA) c.180+415_180+416insTTGA | gnomAD v4 |
22 | g.50624949C>A | CA2410958228 | ARSA | c.*196G>T (n.*196G>T) c.180+414G>T | dbSNP gnomAD v4 |
22 | g.50624949C= | CA2410958227 | ARSA | c.*196G= (n.*196G=) c.180+414G= | |
22 | g.50624949C>T | CA325531078 | ARSA | c.*196G>A (n.*196G>A) c.180+414G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624950C>A | CA2657590089 | ARSA | c.*195G>T (n.*195G>T) c.180+413G>T | gnomAD v4 |
22 | g.50624950C= | CA2410958229 | ARSA | c.*195G= (n.*195G=) c.180+413G= | |
22 | g.50624950C>T | CA325531080 | ARSA | c.*195G>A (n.*195G>A) c.180+413G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624951T>A | CA2410958231 | ARSA | c.*194A>T (n.*194A>T) c.180+412A>T | dbSNP |
22 | g.50624951T>C | CA2657590092 | ARSA | c.*194A>G (n.*194A>G) c.180+412A>G | gnomAD v4 |
22 | g.50624951T= | CA2410958230 | ARSA | c.*194A= (n.*194A=) c.180+412A= | |
22 | g.50624952C>A | CA2657590094 | ARSA | c.*193G>T (n.*193G>T) c.180+411G>T | gnomAD v4 |
22 | g.50624953A>G | CA2657590095 | ARSA | c.*192T>C (n.*192T>C) c.180+410T>C | gnomAD v4 |
22 | g.50624954G>A | CA2657590096 | ARSA | c.*191C>T (n.*191C>T) c.180+409C>T | gnomAD v4 |
22 | g.50624954G>C | CA10654223 | ARSA | c.*191C>G (n.*191C>G) c.180+409C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624954G= | CA2410958232 | ARSA | c.*191C= (n.*191C=) c.180+409C= | |
22 | g.50624955T>C | CA2657590105 | ARSA | c.*190A>G (n.*190A>G) c.180+408A>G | gnomAD v4 |
22 | g.50624956T>C | CA2657590107 | ARSA | c.*189A>G (n.*189A>G) c.180+407A>G | gnomAD v4 |
22 | g.50624957T>G | CA2657590108 | ARSA | c.*188A>C (n.*188A>C) c.180+406A>C | gnomAD v4 |
22 | g.50624958C= | CA2410958233 | ARSA | c.*187G= (n.*187G=) c.180+405G= | |
22 | g.50624958C>T | CA2410958234 | ARSA | c.*187G>A (n.*187G>A) c.180+405G>A | dbSNP |
22 | g.50624959C>T | CA2657590109 | ARSA | c.*186G>A (n.*186G>A) c.180+404G>A | gnomAD v4 |
22 | g.50624960T>A | CA2410958236 | ARSA | c.*185A>T (n.*185A>T) c.180+403A>T | dbSNP gnomAD v4 |
22 | g.50624960T= | CA2410958235 | ARSA | c.*185A= (n.*185A=) c.180+403A= | |
22 | g.50624961C>A | CA2657590111 | ARSA | c.*184G>T (n.*184G>T) c.180+402G>T | gnomAD v4 |
22 | g.50624963T>C | CA2657590113 | ARSA | c.*182A>G (n.*182A>G) c.180+400A>G | gnomAD v4 |
22 | g.50624963T>G | CA2657590114 | ARSA | c.*182A>C (n.*182A>C) c.180+400A>C | gnomAD v4 |
22 | g.50624964T>C | CA2657590119 | ARSA | c.*181A>G (n.*181A>G) c.180+399A>G | gnomAD v4 |
22 | g.50624964T= | CA2410958237 | ARSA | c.*181A= (n.*181A=) c.180+399A= | |
22 | g.50624965C>A | CA2657590124 | ARSA | c.*180G>T (n.*180G>T) c.180+398G>T | gnomAD v4 |
22 | g.50624965C= | CA2410958238 | ARSA | c.*180G= (n.*180G=) c.180+398G= | |
22 | g.50624965C>T | CA640051374 | ARSA | c.*180G>A (n.*180G>A) c.180+398G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624966_50624969dup | CA1026680005 | ARSA | c.*177_*180dup (n.*177_*180dup) c.180+395_180+398dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624966G>A | CA640051375 | ARSA | c.*179C>T (n.*179C>T) c.180+397C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624966G>C | CA2657590127 | ARSA | c.*179C>G (n.*179C>G) c.180+397C>G | gnomAD v4 |
22 | g.50624966G= | CA2410958239 | ARSA | c.*179C= (n.*179C=) c.180+397C= | |
22 | g.50624966G>T | CA2657590129 | ARSA | c.*179C>A (n.*179C>A) c.180+397C>A | gnomAD v4 |
22 | g.50624967T>C | CA2657590130 | ARSA | c.*178A>G (n.*178A>G) c.180+396A>G | gnomAD v4 |
22 | g.50624968A>G | CA2657590131 | ARSA | c.*177T>C (n.*177T>C) c.180+395T>C | gnomAD v4 |
22 | g.50624969C>A | CA2657590132 | ARSA | c.*176G>T (n.*176G>T) c.180+394G>T | gnomAD v4 |
22 | g.50624969C>T | CA2657590134 | ARSA | c.*176G>A (n.*176G>A) c.180+394G>A | gnomAD v4 |
22 | g.50624971A>T | CA2657590136 | ARSA | c.*174T>A (n.*174T>A) c.180+392T>A | gnomAD v4 |
22 | g.50624972C>T | CA2657590138 | ARSA | c.*173G>A (n.*173G>A) c.180+391G>A | gnomAD v4 |
22 | g.50624973A= | CA2410958240 | ARSA | c.*172T= (n.*172T=) c.180+390T= | |
22 | g.50624973A>G | CA2657590141 | ARSA | c.*172T>C (n.*172T>C) c.180+390T>C | gnomAD v4 |
22 | g.50624973A>T | CA754067053 | ARSA | c.*172T>A (n.*172T>A) c.180+390T>A | dbSNP gnomAD v4 |
22 | g.50624974G>A | CA754067054 | ARSA | c.*171C>T (n.*171C>T) c.180+389C>T | dbSNP gnomAD v3 gnomAD v4 |