Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693346C>A | CA515072431 | A4GALT,CYB5R3 | c.-49+27451G>T (n.-49+27451G>T) c.606G>T (p.Arg202=) | |
22 | g.42693346C>G | CA515072433 | A4GALT,CYB5R3 | c.-49+27451G>C (n.-49+27451G>C) c.606G>C (p.Arg202=) | |
22 | g.42693346C>T | CA515072434 | A4GALT,CYB5R3 | c.-49+27451G>A (n.-49+27451G>A) c.606G>A (p.Arg202=) | |
22 | g.42693347C>A | CA411812003 | A4GALT,CYB5R3 | c.-49+27450G>T (n.-49+27450G>T) c.605G>T (p.Arg202Leu) | |
22 | g.42693347C= | CA2406870250 | A4GALT,CYB5R3 | c.-49+27450G= (n.-49+27450G=) c.605G= (p.Arg202=) | |
22 | g.42693347C>G | CA411812004 | A4GALT,CYB5R3 | c.-49+27450G>C (n.-49+27450G>C) c.605G>C (p.Arg202Pro) | |
22 | g.42693347C>T | CA10270258 | A4GALT,CYB5R3 | c.-49+27450G>A (n.-49+27450G>A) c.605G>A (p.Arg202Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693348G>A | CA10270259 | A4GALT,CYB5R3 | c.-49+27449C>T (n.-49+27449C>T) c.604C>T (p.Arg202Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693348G>C | CA411812005 | A4GALT,CYB5R3 | c.-49+27449C>G (n.-49+27449C>G) c.604C>G (p.Arg202Gly) | |
22 | g.42693348G= | CA2406870251 | A4GALT,CYB5R3 | c.-49+27449C= (n.-49+27449C=) c.604C= (p.Arg202=) | |
22 | g.42693348G>T | CA515072441 | A4GALT,CYB5R3 | c.-49+27449C>A (n.-49+27449C>A) c.604C>A (p.Arg202=) | gnomAD v4 |
22 | g.42693349C>A | CA515072444 | A4GALT,CYB5R3 | c.-49+27448G>T (n.-49+27448G>T) c.603G>T (p.Leu201=) | |
22 | g.42693349C>G | CA515072446 | A4GALT,CYB5R3 | c.-49+27448G>C (n.-49+27448G>C) c.603G>C (p.Leu201=) | |
22 | g.42693349C>T | CA515072447 | A4GALT,CYB5R3 | c.-49+27448G>A (n.-49+27448G>A) c.603G>A (p.Leu201=) | |
22 | g.42693350A>C | CA411812006 | A4GALT,CYB5R3 | c.-49+27447T>G (n.-49+27447T>G) c.602T>G (p.Leu201Arg) | |
22 | g.42693350A>G | CA411812007 | A4GALT,CYB5R3 | c.-49+27447T>C (n.-49+27447T>C) c.602T>C (p.Leu201Pro) | |
22 | g.42693350A>T | CA411812008 | A4GALT,CYB5R3 | c.-49+27447T>A (n.-49+27447T>A) c.602T>A (p.Leu201Gln) | |
22 | g.42693351G>A | CA515072454 | A4GALT,CYB5R3 | c.-49+27446C>T (n.-49+27446C>T) c.601C>T (p.Leu201=) | |
22 | g.42693351G>C | CA411812009 | A4GALT,CYB5R3 | c.-49+27446C>G (n.-49+27446C>G) c.601C>G (p.Leu201Val) | |
22 | g.42693351G>T | CA411812010 | A4GALT,CYB5R3 | c.-49+27446C>A (n.-49+27446C>A) c.601C>A (p.Leu201Met) | |
22 | g.42693352G>A | CA515072457 | A4GALT,CYB5R3 | c.-49+27445C>T (n.-49+27445C>T) c.600C>T (p.Asn200=) | gnomAD v4 |
22 | g.42693352G>C | CA411812012 | A4GALT,CYB5R3 | c.-49+27445C>G (n.-49+27445C>G) c.600C>G (p.Asn200Lys) | |
22 | g.42693352G>T | CA411812011 | A4GALT,CYB5R3 | c.-49+27445C>A (n.-49+27445C>A) c.600C>A (p.Asn200Lys) | |
22 | g.42693353T>A | CA411812013 | A4GALT,CYB5R3 | c.-49+27444A>T (n.-49+27444A>T) c.599A>T (p.Asn200Ile) | |
22 | g.42693353T>C | CA411812014 | A4GALT,CYB5R3 | c.-49+27444A>G (n.-49+27444A>G) c.599A>G (p.Asn200Ser) | |
22 | g.42693353T>G | CA411812015 | A4GALT,CYB5R3 | c.-49+27444A>C (n.-49+27444A>C) c.599A>C (p.Asn200Thr) | |
22 | g.42693354T>A | CA411812016 | A4GALT,CYB5R3 | c.-49+27443A>T (n.-49+27443A>T) c.598A>T (p.Asn200Tyr) | |
22 | g.42693354T>C | CA324732294 | A4GALT,CYB5R3 | c.-49+27443A>G (n.-49+27443A>G) c.598A>G (p.Asn200Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693354T>G | CA411812017 | A4GALT,CYB5R3 | c.-49+27443A>C (n.-49+27443A>C) c.598A>C (p.Asn200His) | |
22 | g.42693354T= | CA2406870252 | A4GALT,CYB5R3 | c.-49+27443A= (n.-49+27443A=) c.598A= (p.Asn200=) | |
22 | g.42693355C>A | CA411812018 | A4GALT,CYB5R3 | c.-49+27442G>T (n.-49+27442G>T) c.597G>T (p.Lys199Asn) | |
22 | g.42693355C>G | CA411812019 | A4GALT,CYB5R3 | c.-49+27442G>C (n.-49+27442G>C) c.597G>C (p.Lys199Asn) | |
22 | g.42693355C>T | CA515072469 | A4GALT,CYB5R3 | c.-49+27442G>A (n.-49+27442G>A) c.597G>A (p.Lys199=) | |
22 | g.42693356T>A | CA411812020 | A4GALT,CYB5R3 | c.-49+27441A>T (n.-49+27441A>T) c.596A>T (p.Lys199Met) | |
22 | g.42693356T>C | CA411812021 | A4GALT,CYB5R3 | c.-49+27441A>G (n.-49+27441A>G) c.596A>G (p.Lys199Arg) | gnomAD v4 |
22 | g.42693356T>G | CA411812022 | A4GALT,CYB5R3 | c.-49+27441A>C (n.-49+27441A>C) c.596A>C (p.Lys199Thr) | |
22 | g.42693357T>A | CA411812023 | A4GALT,CYB5R3 | c.-49+27440A>T (n.-49+27440A>T) c.595A>T (p.Lys199Ter) | |
22 | g.42693357T>C | CA10270260 | A4GALT,CYB5R3 | c.-49+27440A>G (n.-49+27440A>G) c.595A>G (p.Lys199Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693357T>G | CA411812024 | A4GALT,CYB5R3 | c.-49+27440A>C (n.-49+27440A>C) c.595A>C (p.Lys199Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.42693357T= | CA2406870253 | A4GALT,CYB5R3 | c.-49+27440A= (n.-49+27440A=) c.595A= (p.Lys199=) | |
22 | g.42693358G>A | CA515072477 | A4GALT,CYB5R3 | c.-49+27439C>T (n.-49+27439C>T) c.594C>T (p.Leu198=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693358G>C | CA515072478 | A4GALT,CYB5R3 | c.-49+27439C>G (n.-49+27439C>G) c.594C>G (p.Leu198=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.42693358G= | CA2406870254 | A4GALT,CYB5R3 | c.-49+27439C= (n.-49+27439C=) c.594C= (p.Leu198=) | |
22 | g.42693358G>T | CA515072476 | A4GALT,CYB5R3 | c.-49+27439C>A (n.-49+27439C>A) c.594C>A (p.Leu198=) | |
22 | g.42693359A>C | CA411812027 | A4GALT,CYB5R3 | c.-49+27438T>G (n.-49+27438T>G) c.593T>G (p.Leu198Arg) | |
22 | g.42693359A>G | CA411812026 | A4GALT,CYB5R3 | c.-49+27438T>C (n.-49+27438T>C) c.593T>C (p.Leu198Pro) | |
22 | g.42693359A>T | CA411812025 | A4GALT,CYB5R3 | c.-49+27438T>A (n.-49+27438T>A) c.593T>A (p.Leu198His) | |
22 | g.42693360G>A | CA10270261 | A4GALT,CYB5R3 | c.-49+27437C>T (n.-49+27437C>T) c.592C>T (p.Leu198Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693360G>C | CA411812028 | A4GALT,CYB5R3 | c.-49+27437C>G (n.-49+27437C>G) c.592C>G (p.Leu198Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42693360G= | CA2406870255 | A4GALT,CYB5R3 | c.-49+27437C= (n.-49+27437C=) c.592C= (p.Leu198=) |