UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693332A= | CA2406870243 | A4GALT,CYB5R3 | c.-49+27465T= (n.-49+27465T=) c.620T= (p.Val207=) | |
| 22 | g.42693332A>C | CA10270255 | A4GALT,CYB5R3 | c.-49+27465T>G (n.-49+27465T>G) c.620T>G (p.Val207Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693332A>G | CA411811947 | A4GALT,CYB5R3 | c.-49+27465T>C (n.-49+27465T>C) c.620T>C (p.Val207Ala) | |
| 22 | g.42693332A>T | CA411811945 | A4GALT,CYB5R3 | c.-49+27465T>A (n.-49+27465T>A) c.620T>A (p.Val207Glu) | |
| 22 | g.42693333C>A | CA411811949 | A4GALT,CYB5R3 | c.-49+27464G>T (n.-49+27464G>T) c.619G>T (p.Val207Leu) | |
| 22 | g.42693333C= | CA2406870244 | A4GALT,CYB5R3 | c.-49+27464G= (n.-49+27464G=) c.619G= (p.Val207=) | |
| 22 | g.42693333C>G | CA411811951 | A4GALT,CYB5R3 | c.-49+27464G>C (n.-49+27464G>C) c.619G>C (p.Val207Leu) | |
| 22 | g.42693333C>T | CA10270256 | A4GALT,CYB5R3 | c.-49+27464G>A (n.-49+27464G>A) c.619G>A (p.Val207Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693334G>A | CA10270257 | A4GALT,CYB5R3 | c.-49+27463C>T (n.-49+27463C>T) c.618C>T (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693334G>C | CA411811956 | A4GALT,CYB5R3 | c.-49+27463C>G (n.-49+27463C>G) c.618C>G (p.Asn206Lys) | |
| 22 | g.42693334G= | CA2406870245 | A4GALT,CYB5R3 | c.-49+27463C= (n.-49+27463C=) c.618C= (p.Asn206=) | |
| 22 | g.42693334G>T | CA411811958 | A4GALT,CYB5R3 | c.-49+27463C>A (n.-49+27463C>A) c.618C>A (p.Asn206Lys) | |
| 22 | g.42693335T>A | CA411811960 | A4GALT,CYB5R3 | c.-49+27462A>T (n.-49+27462A>T) c.617A>T (p.Asn206Ile) | |
| 22 | g.42693335T>C | CA411811962 | A4GALT,CYB5R3 | c.-49+27462A>G (n.-49+27462A>G) c.617A>G (p.Asn206Ser) | gnomAD v4 |
| 22 | g.42693335T>G | CA411811964 | A4GALT,CYB5R3 | c.-49+27462A>C (n.-49+27462A>C) c.617A>C (p.Asn206Thr) | |
| 22 | g.42693336T>A | CA411811966 | A4GALT,CYB5R3 | c.-49+27461A>T (n.-49+27461A>T) c.616A>T (p.Asn206Tyr) | |
| 22 | g.42693336T>C | CA411811968 | A4GALT,CYB5R3 | c.-49+27461A>G (n.-49+27461A>G) c.616A>G (p.Asn206Asp) | |
| 22 | g.42693336T>G | CA411811970 | A4GALT,CYB5R3 | c.-49+27461A>C (n.-49+27461A>C) c.616A>C (p.Asn206His) | |
| 22 | g.42693337G>A | CA515072395 | A4GALT,CYB5R3 | c.-49+27460C>T (n.-49+27460C>T) c.615C>T (p.Thr205=) | |
| 22 | g.42693337G>C | CA515072397 | A4GALT,CYB5R3 | c.-49+27460C>G (n.-49+27460C>G) c.615C>G (p.Thr205=) | dbSNP |
| 22 | g.42693337G= | CA2406870246 | A4GALT,CYB5R3 | c.-49+27460C= (n.-49+27460C=) c.615C= (p.Thr205=) | |
| 22 | g.42693337G>T | CA515072394 | A4GALT,CYB5R3 | c.-49+27460C>A (n.-49+27460C>A) c.615C>A (p.Thr205=) | |
| 22 | g.42693338G>A | CA411811972 | A4GALT,CYB5R3 | c.-49+27459C>T (n.-49+27459C>T) c.614C>T (p.Thr205Ile) | dbSNP |
| 22 | g.42693338G>C | CA411811975 | A4GALT,CYB5R3 | c.-49+27459C>G (n.-49+27459C>G) c.614C>G (p.Thr205Ser) | |
| 22 | g.42693338G>T | CA411811974 | A4GALT,CYB5R3 | c.-49+27459C>A (n.-49+27459C>A) c.614C>A (p.Thr205Asn) | |
| 22 | g.42693339T>A | CA411811981 | A4GALT,CYB5R3 | c.-49+27458A>T (n.-49+27458A>T) c.613A>T (p.Thr205Ser) | |
| 22 | g.42693339T>C | CA411811983 | A4GALT,CYB5R3 | c.-49+27458A>G (n.-49+27458A>G) c.613A>G (p.Thr205Ala) | |
| 22 | g.42693339T>G | CA411811985 | A4GALT,CYB5R3 | c.-49+27458A>C (n.-49+27458A>C) c.613A>C (p.Thr205Pro) | |
| 22 | g.42693340C>A | CA515072414 | A4GALT,CYB5R3 | c.-49+27457G>T (n.-49+27457G>T) c.612G>T (p.Leu204=) | |
| 22 | g.42693340C>G | CA515072408 | A4GALT,CYB5R3 | c.-49+27457G>C (n.-49+27457G>C) c.612G>C (p.Leu204=) | gnomAD v4 |
| 22 | g.42693340C>T | CA515072406 | A4GALT,CYB5R3 | c.-49+27457G>A (n.-49+27457G>A) c.612G>A (p.Leu204=) | |
| 22 | g.42693341A= | CA2406870247 | A4GALT,CYB5R3 | c.-49+27456T= (n.-49+27456T=) c.611T= (p.Leu204=) | |
| 22 | g.42693341A>C | CA324732289 | A4GALT,CYB5R3 | c.-49+27456T>G (n.-49+27456T>G) c.611T>G (p.Leu204Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693341A>G | CA411811988 | A4GALT,CYB5R3 | c.-49+27456T>C (n.-49+27456T>C) c.611T>C (p.Leu204Pro) | |
| 22 | g.42693341A>T | CA411811990 | A4GALT,CYB5R3 | c.-49+27456T>A (n.-49+27456T>A) c.611T>A (p.Leu204Gln) | |
| 22 | g.42693342G>A | CA515072419 | A4GALT,CYB5R3 | c.-49+27455C>T (n.-49+27455C>T) c.610C>T (p.Leu204=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693342G>C | CA411811993 | A4GALT,CYB5R3 | c.-49+27455C>G (n.-49+27455C>G) c.610C>G (p.Leu204Val) | |
| 22 | g.42693342G= | CA2406870248 | A4GALT,CYB5R3 | c.-49+27455C= (n.-49+27455C=) c.610C= (p.Leu204=) | |
| 22 | g.42693342G>T | CA411811994 | A4GALT,CYB5R3 | c.-49+27455C>A (n.-49+27455C>A) c.610C>A (p.Leu204Met) | gnomAD v4 |
| 22 | g.42693343G>A | CA515072422 | A4GALT,CYB5R3 | c.-49+27454C>T (n.-49+27454C>T) c.609C>T (p.Asn203=) | gnomAD v4 |
| 22 | g.42693343G>C | CA411811995 | A4GALT,CYB5R3 | c.-49+27454C>G (n.-49+27454C>G) c.609C>G (p.Asn203Lys) | |
| 22 | g.42693343G>T | CA411811996 | A4GALT,CYB5R3 | c.-49+27454C>A (n.-49+27454C>A) c.609C>A (p.Asn203Lys) | |
| 22 | g.42693344T>A | CA411811998 | A4GALT,CYB5R3 | c.-49+27453A>T (n.-49+27453A>T) c.608A>T (p.Asn203Ile) | |
| 22 | g.42693344T>C | CA411811999 | A4GALT,CYB5R3 | c.-49+27453A>G (n.-49+27453A>G) c.608A>G (p.Asn203Ser) | |
| 22 | g.42693344T>G | CA411811997 | A4GALT,CYB5R3 | c.-49+27453A>C (n.-49+27453A>C) c.608A>C (p.Asn203Thr) | |
| 22 | g.42693345T>A | CA411812000 | A4GALT,CYB5R3 | c.-49+27452A>T (n.-49+27452A>T) c.607A>T (p.Asn203Tyr) | |
| 22 | g.42693345T>C | CA411812001 | A4GALT,CYB5R3 | c.-49+27452A>G (n.-49+27452A>G) c.607A>G (p.Asn203Asp) | dbSNP gnomAD v4 |
| 22 | g.42693345T>G | CA411812002 | A4GALT,CYB5R3 | c.-49+27452A>C (n.-49+27452A>C) c.607A>C (p.Asn203His) | gnomAD v4 |
| 22 | g.42693345T= | CA2406870249 | A4GALT,CYB5R3 | c.-49+27452A= (n.-49+27452A=) c.607A= (p.Asn203=) | |
| 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=) | |
| 22 | g.42693360G>T | CA411812029 | A4GALT,CYB5R3 | c.-49+27437C>A (n.-49+27437C>A) c.592C>A (p.Leu198Ile) | dbSNP |
| 22 | g.42693361A= | CA2406870256 | A4GALT,CYB5R3 | c.-49+27436T= (n.-49+27436T=) c.591T= (p.Val197=) | |
| 22 | g.42693361A>C | CA515072485 | A4GALT,CYB5R3 | c.-49+27436T>G (n.-49+27436T>G) c.591T>G (p.Val197=) | |
| 22 | g.42693361A>G | CA515072487 | A4GALT,CYB5R3 | c.-49+27436T>C (n.-49+27436T>C) c.591T>C (p.Val197=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693361A>T | CA515072489 | A4GALT,CYB5R3 | c.-49+27436T>A (n.-49+27436T>A) c.591T>A (p.Val197=) | |
| 22 | g.42693362A>C | CA411812030 | A4GALT,CYB5R3 | c.-49+27435T>G (n.-49+27435T>G) c.590T>G (p.Val197Gly) | |
| 22 | g.42693362A>G | CA411812031 | A4GALT,CYB5R3 | c.-49+27435T>C (n.-49+27435T>C) c.590T>C (p.Val197Ala) | |
| 22 | g.42693362A>T | CA411812032 | A4GALT,CYB5R3 | c.-49+27435T>A (n.-49+27435T>A) c.590T>A (p.Val197Asp) | |
| 22 | g.42693363C>A | CA411812033 | A4GALT,CYB5R3 | c.-49+27434G>T (n.-49+27434G>T) c.589G>T (p.Val197Phe) | |
| 22 | g.42693363C>G | CA411812034 | A4GALT,CYB5R3 | c.-49+27434G>C (n.-49+27434G>C) c.589G>C (p.Val197Leu) | |
| 22 | g.42693363C>T | CA411812035 | A4GALT,CYB5R3 | c.-49+27434G>A (n.-49+27434G>A) c.589G>A (p.Val197Ile) | |
| 22 | g.42693364A= | CA2406870257 | A4GALT,CYB5R3 | c.-49+27433T= (n.-49+27433T=) c.588T= (p.Ile196=) | |
| 22 | g.42693364A>C | CA411812036 | A4GALT,CYB5R3 | c.-49+27433T>G (n.-49+27433T>G) c.588T>G (p.Ile196Met) | |
| 22 | g.42693364A>G | CA324732300 | A4GALT,CYB5R3 | c.-49+27433T>C (n.-49+27433T>C) c.588T>C (p.Ile196=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693364A>T | CA515072496 | A4GALT,CYB5R3 | c.-49+27433T>A (n.-49+27433T>A) c.588T>A (p.Ile196=) | |
| 22 | g.42693365A= | CA2406870258 | A4GALT,CYB5R3 | c.-49+27432T= (n.-49+27432T=) c.587T= (p.Ile196=) | |
| 22 | g.42693365A>C | CA411812037 | A4GALT,CYB5R3 | c.-49+27432T>G (n.-49+27432T>G) c.587T>G (p.Ile196Ser) | |
| 22 | g.42693365A>G | CA411812038 | A4GALT,CYB5R3 | c.-49+27432T>C (n.-49+27432T>C) c.587T>C (p.Ile196Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693365A>T | CA411812039 | A4GALT,CYB5R3 | c.-49+27432T>A (n.-49+27432T>A) c.587T>A (p.Ile196Asn) | |
| 22 | g.42693366T>A | CA411812040 | A4GALT,CYB5R3 | c.-49+27431A>T (n.-49+27431A>T) c.586A>T (p.Ile196Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693366T>C | CA10270262 | A4GALT,CYB5R3 | c.-49+27431A>G (n.-49+27431A>G) c.586A>G (p.Ile196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693366T>G | CA411812041 | A4GALT,CYB5R3 | c.-49+27431A>C (n.-49+27431A>C) c.586A>C (p.Ile196Leu) | |
| 22 | g.42693366T= | CA2406870259 | A4GALT,CYB5R3 | c.-49+27431A= (n.-49+27431A=) c.586A= (p.Ile196=) | |
| 22 | g.42693367G>A | CA515072505 | A4GALT,CYB5R3 | c.-49+27430C>T (n.-49+27430C>T) c.585C>T (p.Phe195=) | |
| 22 | g.42693367G>C | CA10270263 | A4GALT,CYB5R3 | c.-49+27430C>G (n.-49+27430C>G) c.585C>G (p.Phe195Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693367G= | CA2406870260 | A4GALT,CYB5R3 | c.-49+27430C= (n.-49+27430C=) c.585C= (p.Phe195=) | |
| 22 | g.42693367G>T | CA411812042 | A4GALT,CYB5R3 | c.-49+27430C>A (n.-49+27430C>A) c.585C>A (p.Phe195Leu) | gnomAD v4 |
| 22 | g.42693368A>C | CA411812043 | A4GALT,CYB5R3 | c.-49+27429T>G (n.-49+27429T>G) c.584T>G (p.Phe195Cys) | |
| 22 | g.42693368A>G | CA411812044 | A4GALT,CYB5R3 | c.-49+27429T>C (n.-49+27429T>C) c.584T>C (p.Phe195Ser) | |
| 22 | g.42693368A>T | CA411812045 | A4GALT,CYB5R3 | c.-49+27429T>A (n.-49+27429T>A) c.584T>A (p.Phe195Tyr) | |
| 22 | g.42693369A>C | CA411812046 | A4GALT,CYB5R3 | c.-49+27428T>G (n.-49+27428T>G) c.583T>G (p.Phe195Val) | |
| 22 | g.42693369A>G | CA411812047 | A4GALT,CYB5R3 | c.-49+27428T>C (n.-49+27428T>C) c.583T>C (p.Phe195Leu) | gnomAD v4 |
| 22 | g.42693369A>T | CA411812048 | A4GALT,CYB5R3 | c.-49+27428T>A (n.-49+27428T>A) c.583T>A (p.Phe195Ile) | |
| 22 | g.42693370G>A | CA515072513 | A4GALT,CYB5R3 | c.-49+27427C>T (n.-49+27427C>T) c.582C>T (p.Asp194=) | |
| 22 | g.42693370G>C | CA411812050 | A4GALT,CYB5R3 | c.-49+27427C>G (n.-49+27427C>G) c.582C>G (p.Asp194Glu) | gnomAD v4 |
| 22 | g.42693370G>T | CA411812049 | A4GALT,CYB5R3 | c.-49+27427C>A (n.-49+27427C>A) c.582C>A (p.Asp194Glu) | |
| 22 | g.42693371T>A | CA411812051 | A4GALT,CYB5R3 | c.-49+27426A>T (n.-49+27426A>T) c.581A>T (p.Asp194Val) | |
| 22 | g.42693371T>C | CA411812052 | A4GALT,CYB5R3 | c.-49+27426A>G (n.-49+27426A>G) c.581A>G (p.Asp194Gly) | |
| 22 | g.42693371T>G | CA411812053 | A4GALT,CYB5R3 | c.-49+27426A>C (n.-49+27426A>C) c.581A>C (p.Asp194Ala) | |
| 22 | g.42693372C>A | CA411812054 | A4GALT,CYB5R3 | c.-49+27425G>T (n.-49+27425G>T) c.580G>T (p.Asp194Tyr) | |
| 22 | g.42693372C>G | CA411812055 | A4GALT,CYB5R3 | c.-49+27425G>C (n.-49+27425G>C) c.580G>C (p.Asp194His) | |
| 22 | g.42693372C>T | CA411812056 | A4GALT,CYB5R3 | c.-49+27425G>A (n.-49+27425G>A) c.580G>A (p.Asp194Asn) | COSMIC |
| 22 | g.42693373C>A | CA515072523 | A4GALT,CYB5R3 | c.-49+27424G>T (n.-49+27424G>T) c.579G>T (p.Thr193=) | dbSNP |
| 22 | g.42693373C= | CA2406870261 | A4GALT,CYB5R3 | c.-49+27424G= (n.-49+27424G=) c.579G= (p.Thr193=) | |
| 22 | g.42693373C>G | CA515072525 | A4GALT,CYB5R3 | c.-49+27424G>C (n.-49+27424G>C) c.579G>C (p.Thr193=) | |
| 22 | g.42693373C>T | CA515072528 | A4GALT,CYB5R3 | c.-49+27424G>A (n.-49+27424G>A) c.579G>A (p.Thr193=) | gnomAD v4 |
| 22 | g.42693374G>A | CA10270264 | A4GALT,CYB5R3 | c.-49+27423C>T (n.-49+27423C>T) c.578C>T (p.Thr193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693374G>C | CA411812058 | A4GALT,CYB5R3 | c.-49+27423C>G (n.-49+27423C>G) c.578C>G (p.Thr193Arg) | gnomAD v4 |
| 22 | g.42693374G= | CA2406870262 | A4GALT,CYB5R3 | c.-49+27423C= (n.-49+27423C=) c.578C= (p.Thr193=) | |
| 22 | g.42693374G>T | CA411812057 | A4GALT,CYB5R3 | c.-49+27423C>A (n.-49+27423C>A) c.578C>A (p.Thr193Lys) | |
| 22 | g.42693375T>A | CA411812059 | A4GALT,CYB5R3 | c.-49+27422A>T (n.-49+27422A>T) c.577A>T (p.Thr193Ser) | |
| 22 | g.42693375T>C | CA411812060 | A4GALT,CYB5R3 | c.-49+27422A>G (n.-49+27422A>G) c.577A>G (p.Thr193Ala) | gnomAD v4 |
| 22 | g.42693375T>G | CA411812061 | A4GALT,CYB5R3 | c.-49+27422A>C (n.-49+27422A>C) c.577A>C (p.Thr193Pro) | |
| 22 | g.42693376G>A | CA515072536 | A4GALT,CYB5R3 | c.-49+27421C>T (n.-49+27421C>T) c.576C>T (p.Asp192=) | |
| 22 | g.42693376G>C | CA411812062 | A4GALT,CYB5R3 | c.-49+27421C>G (n.-49+27421C>G) c.576C>G (p.Asp192Glu) | |
| 22 | g.42693376G>T | CA411812063 | A4GALT,CYB5R3 | c.-49+27421C>A (n.-49+27421C>A) c.576C>A (p.Asp192Glu) | |
| 22 | g.42693376dup | CA2577739308 | A4GALT,CYB5R3 | c.-49+27421dup (n.-49+27421dup) c.576dup (p.Thr193HisfsTer?) | gnomAD v4 |
| 22 | g.42693377T>A | CA411812064 | A4GALT,CYB5R3 | c.-49+27420A>T (n.-49+27420A>T) c.575A>T (p.Asp192Val) | |
| 22 | g.42693377T>C | CA411812065 | A4GALT,CYB5R3 | c.-49+27420A>G (n.-49+27420A>G) c.575A>G (p.Asp192Gly) | |
| 22 | g.42693377T>G | CA411812066 | A4GALT,CYB5R3 | c.-49+27420A>C (n.-49+27420A>C) c.575A>C (p.Asp192Ala) | |
| 22 | g.42693378C>A | CA411812067 | A4GALT,CYB5R3 | c.-49+27419G>T (n.-49+27419G>T) c.574G>T (p.Asp192Tyr) | |
| 22 | g.42693378C>G | CA411812068 | A4GALT,CYB5R3 | c.-49+27419G>C (n.-49+27419G>C) c.574G>C (p.Asp192His) | gnomAD v4 |
| 22 | g.42693378C>T | CA411812069 | A4GALT,CYB5R3 | c.-49+27419G>A (n.-49+27419G>A) c.574G>A (p.Asp192Asn) | gnomAD v4 |
| 22 | g.42693379C>A | CA515072551 | A4GALT,CYB5R3 | c.-49+27418G>T (n.-49+27418G>T) c.573G>T (p.Leu191=) | |
| 22 | g.42693379C>G | CA515072549 | A4GALT,CYB5R3 | c.-49+27418G>C (n.-49+27418G>C) c.573G>C (p.Leu191=) | |
| 22 | g.42693379C>T | CA515072546 | A4GALT,CYB5R3 | c.-49+27418G>A (n.-49+27418G>A) c.573G>A (p.Leu191=) | |
| 22 | g.42693380A= | CA2406870263 | A4GALT,CYB5R3 | c.-49+27417T= (n.-49+27417T=) c.572T= (p.Leu191=) | |
| 22 | g.42693380A>C | CA411812070 | A4GALT,CYB5R3 | c.-49+27417T>G (n.-49+27417T>G) c.572T>G (p.Leu191Arg) | |
| 22 | g.42693380A>G | CA411812071 | A4GALT,CYB5R3 | c.-49+27417T>C (n.-49+27417T>C) c.572T>C (p.Leu191Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693380A>T | CA411812072 | A4GALT,CYB5R3 | c.-49+27417T>A (n.-49+27417T>A) c.572T>A (p.Leu191Gln) | |
| 22 | g.42693381G>A | CA515072556 | A4GALT,CYB5R3 | c.-49+27416C>T (n.-49+27416C>T) c.571C>T (p.Leu191=) | gnomAD v4 |
| 22 | g.42693381G>C | CA411812073 | A4GALT,CYB5R3 | c.-49+27416C>G (n.-49+27416C>G) c.571C>G (p.Leu191Val) | |
| 22 | g.42693381G>T | CA411812074 | A4GALT,CYB5R3 | c.-49+27416C>A (n.-49+27416C>A) c.571C>A (p.Leu191Met) | |
| 22 | g.42693382G>A | CA515072562 | A4GALT,CYB5R3 | c.-49+27415C>T (n.-49+27415C>T) c.570C>T (p.Tyr190=) | |
| 22 | g.42693382G>C | CA411812075 | A4GALT,CYB5R3 | c.-49+27415C>G (n.-49+27415C>G) c.570C>G (p.Tyr190Ter) | |
| 22 | g.42693382G>T | CA411812076 | A4GALT,CYB5R3 | c.-49+27415C>A (n.-49+27415C>A) c.570C>A (p.Tyr190Ter) | |
| 22 | g.42693383T>A | CA411812077 | A4GALT,CYB5R3 | c.-49+27414A>T (n.-49+27414A>T) c.569A>T (p.Tyr190Phe) | |
| 22 | g.42693383T>C | CA411812078 | A4GALT,CYB5R3 | c.-49+27414A>G (n.-49+27414A>G) c.569A>G (p.Tyr190Cys) | gnomAD v4 |
| 22 | g.42693383T>G | CA411812079 | A4GALT,CYB5R3 | c.-49+27414A>C (n.-49+27414A>C) c.569A>C (p.Tyr190Ser) | dbSNP |
| 22 | g.42693383T= | CA2406870264 | A4GALT,CYB5R3 | c.-49+27414A= (n.-49+27414A=) c.569A= (p.Tyr190=) | |
| 22 | g.42693384A= | CA2406870265 | A4GALT,CYB5R3 | c.-49+27413T= (n.-49+27413T=) c.568T= (p.Tyr190=) | |
| 22 | g.42693384A>C | CA411812080 | A4GALT,CYB5R3 | c.-49+27413T>G (n.-49+27413T>G) c.568T>G (p.Tyr190Asp) | |
| 22 | g.42693384A>G | CA411812081 | A4GALT,CYB5R3 | c.-49+27413T>C (n.-49+27413T>C) c.568T>C (p.Tyr190His) | gnomAD v4 |
| 22 | g.42693384A>T | CA324732307 | A4GALT,CYB5R3 | c.-49+27413T>A (n.-49+27413T>A) c.568T>A (p.Tyr190Asn) | dbSNP |
| 22 | g.42693384dup | CA2657079475 | A4GALT,CYB5R3 | c.-49+27413dup (n.-49+27413dup) c.568dup (p.Tyr190LeufsTer?) | gnomAD v4 |
| 22 | g.42693385G>A | CA515072572 | A4GALT,CYB5R3 | c.-49+27412C>T (n.-49+27412C>T) c.567C>T (p.Ile189=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693385G>C | CA411812082 | A4GALT,CYB5R3 | c.-49+27412C>G (n.-49+27412C>G) c.567C>G (p.Ile189Met) | |
| 22 | g.42693385G= | CA2406870266 | A4GALT,CYB5R3 | c.-49+27412C= (n.-49+27412C=) c.567C= (p.Ile189=) | |
| 22 | g.42693385G>T | CA515072571 | A4GALT,CYB5R3 | c.-49+27412C>A (n.-49+27412C>A) c.567C>A (p.Ile189=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693386A>C | CA411812083 | A4GALT,CYB5R3 | c.-49+27411T>G (n.-49+27411T>G) c.566T>G (p.Ile189Ser) | |
| 22 | g.42693386A>G | CA411812084 | A4GALT,CYB5R3 | c.-49+27411T>C (n.-49+27411T>C) c.566T>C (p.Ile189Thr) | |
| 22 | g.42693386A>T | CA411812085 | A4GALT,CYB5R3 | c.-49+27411T>A (n.-49+27411T>A) c.566T>A (p.Ile189Asn) | gnomAD v4 |
| 22 | g.42693387T>A | CA411812086 | A4GALT,CYB5R3 | c.-49+27410A>T (n.-49+27410A>T) c.565A>T (p.Ile189Phe) | |
| 22 | g.42693387T>C | CA411812088 | A4GALT,CYB5R3 | c.-49+27410A>G (n.-49+27410A>G) c.565A>G (p.Ile189Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693387T>G | CA411812087 | A4GALT,CYB5R3 | c.-49+27410A>C (n.-49+27410A>C) c.565A>C (p.Ile189Leu) | |
| 22 | g.42693387T= | CA2406870267 | A4GALT,CYB5R3 | c.-49+27410A= (n.-49+27410A=) c.565A= (p.Ile189=) | |
| 22 | g.42693388G>A | CA515072587 | A4GALT,CYB5R3 | c.-49+27409C>T (n.-49+27409C>T) c.564C>T (p.Gly188=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693388G>C | CA515072588 | A4GALT,CYB5R3 | c.-49+27409C>G (n.-49+27409C>G) c.564C>G (p.Gly188=) | |
| 22 | g.42693388G= | CA2406870268 | A4GALT,CYB5R3 | c.-49+27409C= (n.-49+27409C=) c.564C= (p.Gly188=) | |
| 22 | g.42693388G>T | CA515072590 | A4GALT,CYB5R3 | c.-49+27409C>A (n.-49+27409C>A) c.564C>A (p.Gly188=) | |
| 22 | g.42693389C>A | CA411812089 | A4GALT,CYB5R3 | c.-49+27408G>T (n.-49+27408G>T) c.563G>T (p.Gly188Val) | gnomAD v4 |
| 22 | g.42693389C= | CA2406870269 | A4GALT,CYB5R3 | c.-49+27408G= (n.-49+27408G=) c.563G= (p.Gly188=) | |
| 22 | g.42693389C>G | CA411812090 | A4GALT,CYB5R3 | c.-49+27408G>C (n.-49+27408G>C) c.563G>C (p.Gly188Ala) | |
| 22 | g.42693389C>T | CA10270265 | A4GALT,CYB5R3 | c.-49+27408G>A (n.-49+27408G>A) c.563G>A (p.Gly188Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693390C>A | CA411812091 | A4GALT,CYB5R3 | c.-49+27407G>T (n.-49+27407G>T) c.562G>T (p.Gly188Cys) | |
| 22 | g.42693390C= | CA2406870270 | A4GALT,CYB5R3 | c.-49+27407G= (n.-49+27407G=) c.562G= (p.Gly188=) | |
| 22 | g.42693390C>G | CA411812092 | A4GALT,CYB5R3 | c.-49+27407G>C (n.-49+27407G>C) c.562G>C (p.Gly188Arg) | |
| 22 | g.42693390C>T | CA10270266 | A4GALT,CYB5R3 | c.-49+27407G>A (n.-49+27407G>A) c.562G>A (p.Gly188Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693391G>A | CA515072601 | A4GALT,CYB5R3 | c.-49+27406C>T (n.-49+27406C>T) c.561C>T (p.Gly187=) | gnomAD v4 |
| 22 | g.42693391G>C | CA515072603 | A4GALT,CYB5R3 | c.-49+27406C>G (n.-49+27406C>G) c.561C>G (p.Gly187=) | |
| 22 | g.42693391G>T | CA515072605 | A4GALT,CYB5R3 | c.-49+27406C>A (n.-49+27406C>A) c.561C>A (p.Gly187=) | gnomAD v4 |
| 22 | g.42693392C>A | CA411812094 | A4GALT,CYB5R3 | c.-49+27405G>T (n.-49+27405G>T) c.560G>T (p.Gly187Val) | |
| 22 | g.42693392C= | CA2406870271 | A4GALT,CYB5R3 | c.-49+27405G= (n.-49+27405G=) c.560G= (p.Gly187=) | |
| 22 | g.42693392C>G | CA411812093 | A4GALT,CYB5R3 | c.-49+27405G>C (n.-49+27405G>C) c.560G>C (p.Gly187Ala) | |
| 22 | g.42693392C>T | CA115689 | A4GALT,CYB5R3 | c.-49+27405G>A (n.-49+27405G>A) c.560G>A (p.Gly187Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693393C>A | CA411812095 | A4GALT,CYB5R3 | c.-49+27404G>T (n.-49+27404G>T) c.559G>T (p.Gly187Cys) | dbSNP gnomAD v2 |
| 22 | g.42693393C= | CA2406870272 | A4GALT,CYB5R3 | c.-49+27404G= (n.-49+27404G=) c.559G= (p.Gly187=) | |
| 22 | g.42693393C>G | CA411812096 | A4GALT,CYB5R3 | c.-49+27404G>C (n.-49+27404G>C) c.559G>C (p.Gly187Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693393C>T | CA10270267 | A4GALT,CYB5R3 | c.-49+27404G>A (n.-49+27404G>A) c.559G>A (p.Gly187Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693394G>A | CA10270268 | A4GALT,CYB5R3 | c.-49+27403C>T (n.-49+27403C>T) c.558C>T (p.Phe186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693394G>C | CA10270269 | A4GALT,CYB5R3 | c.-49+27403C>G (n.-49+27403C>G) c.558C>G (p.Phe186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693394G= | CA2406870273 | A4GALT,CYB5R3 | c.-49+27403C= (n.-49+27403C=) c.558C= (p.Phe186=) | |
| 22 | g.42693394G>T | CA411812097 | A4GALT,CYB5R3 | c.-49+27403C>A (n.-49+27403C>A) c.558C>A (p.Phe186Leu) | |
| 22 | g.42693395A>C | CA411812098 | A4GALT,CYB5R3 | c.-49+27402T>G (n.-49+27402T>G) c.557T>G (p.Phe186Cys) | COSMIC |
| 22 | g.42693395A>G | CA411812100 | A4GALT,CYB5R3 | c.-49+27402T>C (n.-49+27402T>C) c.557T>C (p.Phe186Ser) | |
| 22 | g.42693395A>T | CA411812099 | A4GALT,CYB5R3 | c.-49+27402T>A (n.-49+27402T>A) c.557T>A (p.Phe186Tyr) | |
| 22 | g.42693396A= | CA2406870274 | A4GALT,CYB5R3 | c.-49+27401T= (n.-49+27401T=) c.556T= (p.Phe186=) | |
| 22 | g.42693396A>C | CA411812101 | A4GALT,CYB5R3 | c.-49+27401T>G (n.-49+27401T>G) c.556T>G (p.Phe186Val) | |
| 22 | g.42693396A>G | CA411812102 | A4GALT,CYB5R3 | c.-49+27401T>C (n.-49+27401T>C) c.556T>C (p.Phe186Leu) | |
| 22 | g.42693396A>T | CA411812103 | A4GALT,CYB5R3 | c.-49+27401T>A (n.-49+27401T>A) c.556T>A (p.Phe186Ile) | |
| 22 | g.42693397C>A | CA411812104 | A4GALT,CYB5R3 | c.-49+27400G>T (n.-49+27400G>T) c.555G>T (p.Lys185Asn) | |
| 22 | g.42693397C>G | CA411812105 | A4GALT,CYB5R3 | c.-49+27400G>C (n.-49+27400G>C) c.555G>C (p.Lys185Asn) | |
| 22 | g.42693397C>T | CA515072626 | A4GALT,CYB5R3 | c.-49+27400G>A (n.-49+27400G>A) c.555G>A (p.Lys185=) | |
| 22 | g.42693398_42693400dup | CA639829273 | A4GALT,CYB5R3 | c.-49+27398_-49+27400dup (n.-49+27398_-49+27400dup) c.553_555dup (p.Lys185_Phe186insLys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693398T>A | CA411812106 | A4GALT,CYB5R3 | c.-49+27399A>T (n.-49+27399A>T) c.554A>T (p.Lys185Met) | |
| 22 | g.42693398T>C | CA411812107 | A4GALT,CYB5R3 | c.-49+27399A>G (n.-49+27399A>G) c.554A>G (p.Lys185Arg) | |
| 22 | g.42693398T>G | CA411812108 | A4GALT,CYB5R3 | c.-49+27399A>C (n.-49+27399A>C) c.554A>C (p.Lys185Thr) | |
| 22 | g.42693399T>A | CA411812109 | A4GALT,CYB5R3 | c.-49+27398A>T (n.-49+27398A>T) c.553A>T (p.Lys185Ter) | |
| 22 | g.42693399T>C | CA411812110 | A4GALT,CYB5R3 | c.-49+27398A>G (n.-49+27398A>G) c.553A>G (p.Lys185Glu) | |
| 22 | g.42693399T>G | CA411812111 | A4GALT,CYB5R3 | c.-49+27398A>C (n.-49+27398A>C) c.553A>C (p.Lys185Gln) | |
| 22 | g.42693399_42693400delinsTC | CA2406870275 | A4GALT,CYB5R3 | c.-49+27397_-49+27398delinsGA (n.-49+27397_-49+27398delinsGA) c.552_553delinsGA (p.Trp184=) | |
| 22 | g.42693400C>A | CA411812112 | A4GALT,CYB5R3 | c.-49+27397G>T (n.-49+27397G>T) c.552G>T (p.Trp184Cys) | |
| 22 | g.42693400C>G | CA411812113 | A4GALT,CYB5R3 | c.-49+27397G>C (n.-49+27397G>C) c.552G>C (p.Trp184Cys) | |
| 22 | g.42693400C>T | CA411812114 | A4GALT,CYB5R3 | c.-49+27397G>A (n.-49+27397G>A) c.552G>A (p.Trp184Ter) | |
| 22 | g.42693401del | CA10270270 | A4GALT,CYB5R3 | c.-49+27397del (n.-49+27397del) c.552del (p.Trp184Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693400_42693401insATTGTT | CA2819076060 | A4GALT,CYB5R3 | c.-49+27396_-49+27397insAACAAT (n.-49+27396_-49+27397insAACAAT) c.551_552insAACAAT (p.Trp184Ter) | |
| 22 | g.42693401C>A | CA411812115 | A4GALT,CYB5R3 | c.-49+27396G>T (n.-49+27396G>T) c.551G>T (p.Trp184Leu) | |
| 22 | g.42693401C>G | CA411812116 | A4GALT,CYB5R3 | c.-49+27396G>C (n.-49+27396G>C) c.551G>C (p.Trp184Ser) | |
| 22 | g.42693401C>T | CA411812117 | A4GALT,CYB5R3 | c.-49+27396G>A (n.-49+27396G>A) c.551G>A (p.Trp184Ter) | |
| 22 | g.42693402A>C | CA411812118 | A4GALT,CYB5R3 | c.-49+27395T>G (n.-49+27395T>G) c.550T>G (p.Trp184Gly) | |
| 22 | g.42693402A>G | CA411812119 | A4GALT,CYB5R3 | c.-49+27395T>C (n.-49+27395T>C) c.550T>C (p.Trp184Arg) | |
| 22 | g.42693402A>T | CA411812120 | A4GALT,CYB5R3 | c.-49+27395T>A (n.-49+27395T>A) c.550T>A (p.Trp184Arg) | |
| 22 | g.42693403C>A | CA411812121 | A4GALT,CYB5R3 | c.-49+27394G>T (n.-49+27394G>T) c.549G>T (p.Met183Ile) | |
| 22 | g.42693403C>G | CA411812122 | A4GALT,CYB5R3 | c.-49+27394G>C (n.-49+27394G>C) c.549G>C (p.Met183Ile) | |
| 22 | g.42693403C>T | CA411812123 | A4GALT,CYB5R3 | c.-49+27394G>A (n.-49+27394G>A) c.549G>A (p.Met183Ile) | gnomAD v4 |
| 22 | g.42693403_42693405delinsCAT | CA2406870276 | A4GALT,CYB5R3 | c.-49+27392_-49+27394delinsATG (n.-49+27392_-49+27394delinsATG) c.547_549delinsATG (p.Met183=) | |
| 22 | g.42693404A= | CA2406870277 | A4GALT,CYB5R3 | c.-49+27393T= (n.-49+27393T=) c.548T= (p.Met183=) | |
| 22 | g.42693404A>C | CA411812125 | A4GALT,CYB5R3 | c.-49+27393T>G (n.-49+27393T>G) c.548T>G (p.Met183Arg) | |
| 22 | g.42693404A>G | CA411812124 | A4GALT,CYB5R3 | c.-49+27393T>C (n.-49+27393T>C) c.548T>C (p.Met183Thr) | ClinVar gnomAD v4 |
| 22 | g.42693404A>T | CA115683 | A4GALT,CYB5R3 | c.-49+27393T>A (n.-49+27393T>A) c.548T>A (p.Met183Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693404_42693405del | CA10270271 | A4GALT,CYB5R3 | c.-49+27392_-49+27393del (n.-49+27392_-49+27393del) c.547_548del (p.Met183ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693405T>A | CA411812126 | A4GALT,CYB5R3 | c.-49+27392A>T (n.-49+27392A>T) c.547A>T (p.Met183Leu) | |
| 22 | g.42693405T>C | CA10270272 | A4GALT,CYB5R3 | c.-49+27392A>G (n.-49+27392A>G) c.547A>G (p.Met183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693405T>G | CA411812127 | A4GALT,CYB5R3 | c.-49+27392A>C (n.-49+27392A>C) c.547A>C (p.Met183Leu) | |
| 22 | g.42693405T= | CA2406870278 | A4GALT,CYB5R3 | c.-49+27392A= (n.-49+27392A=) c.547A= (p.Met183=) | |
| 22 | g.42693405_42693406del | CA411812128 | A4GALT,CYB5R3 | c.-49+27391_-49+27392del (n.-49+27391_-49+27392del) c.546_547del (p.Met183ValfsTer?) | |
| 22 | g.42693406G>A | CA515072663 | A4GALT,CYB5R3 | c.-49+27391C>T (n.-49+27391C>T) c.546C>T (p.Leu182=) | |
| 22 | g.42693406G>C | CA515072667 | A4GALT,CYB5R3 | c.-49+27391C>G (n.-49+27391C>G) c.546C>G (p.Leu182=) | |
| 22 | g.42693406G>T | CA515072665 | A4GALT,CYB5R3 | c.-49+27391C>A (n.-49+27391C>A) c.546C>A (p.Leu182=) | |
| 22 | g.42693407A= | CA2406870279 | A4GALT,CYB5R3 | c.-49+27390T= (n.-49+27390T=) c.545T= (p.Leu182=) | |
| 22 | g.42693407A>C | CA411812129 | A4GALT,CYB5R3 | c.-49+27390T>G (n.-49+27390T>G) c.545T>G (p.Leu182Arg) | dbSNP gnomAD v4 |
| 22 | g.42693407A>G | CA411812130 | A4GALT,CYB5R3 | c.-49+27390T>C (n.-49+27390T>C) c.545T>C (p.Leu182Pro) | |
| 22 | g.42693407A>T | CA411812131 | A4GALT,CYB5R3 | c.-49+27390T>A (n.-49+27390T>A) c.545T>A (p.Leu182His) | |
| 22 | g.42693408G>A | CA10270273 | A4GALT,CYB5R3 | c.-49+27389C>T (n.-49+27389C>T) c.544C>T (p.Leu182Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693408G>C | CA411812132 | A4GALT,CYB5R3 | c.-49+27389C>G (n.-49+27389C>G) c.544C>G (p.Leu182Val) | |
| 22 | g.42693408G= | CA2406870280 | A4GALT,CYB5R3 | c.-49+27389C= (n.-49+27389C=) c.544C= (p.Leu182=) | |
| 22 | g.42693408G>T | CA411812133 | A4GALT,CYB5R3 | c.-49+27389C>A (n.-49+27389C>A) c.544C>A (p.Leu182Ile) | gnomAD v4 |
| 22 | g.42693409T>A | CA515072676 | A4GALT,CYB5R3 | c.-49+27388A>T (n.-49+27388A>T) c.543A>T (p.Ala181=) | |
| 22 | g.42693409T>C | CA515072677 | A4GALT,CYB5R3 | c.-49+27388A>G (n.-49+27388A>G) c.543A>G (p.Ala181=) | dbSNP |
| 22 | g.42693409T>G | CA515072678 | A4GALT,CYB5R3 | c.-49+27388A>C (n.-49+27388A>C) c.543A>C (p.Ala181=) | |
| 22 | g.42693409T= | CA2406870281 | A4GALT,CYB5R3 | c.-49+27388A= (n.-49+27388A=) c.543A= (p.Ala181=) | |
| 22 | g.42693410G>A | CA411812134 | A4GALT,CYB5R3 | c.-49+27387C>T (n.-49+27387C>T) c.542C>T (p.Ala181Val) | COSMIC |
| 22 | g.42693410G>C | CA411812135 | A4GALT,CYB5R3 | c.-49+27387C>G (n.-49+27387C>G) c.542C>G (p.Ala181Gly) | |
| 22 | g.42693410G>T | CA411812136 | A4GALT,CYB5R3 | c.-49+27387C>A (n.-49+27387C>A) c.542C>A (p.Ala181Glu) | |
| 22 | g.42693411C>A | CA411812138 | A4GALT,CYB5R3 | c.-49+27386G>T (n.-49+27386G>T) c.541G>T (p.Ala181Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693411C= | CA2406870282 | A4GALT,CYB5R3 | c.-49+27386G= (n.-49+27386G=) c.541G= (p.Ala181=) | |
| 22 | g.42693411C>G | CA411812139 | A4GALT,CYB5R3 | c.-49+27386G>C (n.-49+27386G>C) c.541G>C (p.Ala181Pro) | |
| 22 | g.42693411C>T | CA411812137 | A4GALT,CYB5R3 | c.-49+27386G>A (n.-49+27386G>A) c.541G>A (p.Ala181Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693412G>A | CA515072686 | A4GALT,CYB5R3 | c.-49+27385C>T (n.-49+27385C>T) c.540C>T (p.Ile180=) | gnomAD v4 COSMIC |
| 22 | g.42693412G>C | CA411812140 | A4GALT,CYB5R3 | c.-49+27385C>G (n.-49+27385C>G) c.540C>G (p.Ile180Met) | gnomAD v4 |
| 22 | g.42693412G>T | CA515072689 | A4GALT,CYB5R3 | c.-49+27385C>A (n.-49+27385C>A) c.540C>A (p.Ile180=) | |
| 22 | g.42693413A>C | CA411812142 | A4GALT,CYB5R3 | c.-49+27384T>G (n.-49+27384T>G) c.539T>G (p.Ile180Ser) | |
| 22 | g.42693413A>G | CA411812141 | A4GALT,CYB5R3 | c.-49+27384T>C (n.-49+27384T>C) c.539T>C (p.Ile180Thr) | |
| 22 | g.42693413A>T | CA411812143 | A4GALT,CYB5R3 | c.-49+27384T>A (n.-49+27384T>A) c.539T>A (p.Ile180Asn) | |
| 22 | g.42693414T>A | CA411812144 | A4GALT,CYB5R3 | c.-49+27383A>T (n.-49+27383A>T) c.538A>T (p.Ile180Phe) | |
| 22 | g.42693414T>C | CA411812145 | A4GALT,CYB5R3 | c.-49+27383A>G (n.-49+27383A>G) c.538A>G (p.Ile180Val) | gnomAD v4 |
| 22 | g.42693414T>G | CA411812146 | A4GALT,CYB5R3 | c.-49+27383A>C (n.-49+27383A>C) c.538A>C (p.Ile180Leu) | |
| 22 | g.42693415C>A | CA411812147 | A4GALT,CYB5R3 | c.-49+27382G>T (n.-49+27382G>T) c.537G>T (p.Arg179Ser) | |
| 22 | g.42693415C>G | CA411812148 | A4GALT,CYB5R3 | c.-49+27382G>C (n.-49+27382G>C) c.537G>C (p.Arg179Ser) | |
| 22 | g.42693415C>T | CA515072698 | A4GALT,CYB5R3 | c.-49+27382G>A (n.-49+27382G>A) c.537G>A (p.Arg179=) | gnomAD v4 |
| 22 | g.42693416C>A | CA411812149 | A4GALT,CYB5R3 | c.-49+27381G>T (n.-49+27381G>T) c.536G>T (p.Arg179Met) | |
| 22 | g.42693416C= | CA2406870283 | A4GALT,CYB5R3 | c.-49+27381G= (n.-49+27381G=) c.536G= (p.Arg179=) | |
| 22 | g.42693416C>G | CA411812150 | A4GALT,CYB5R3 | c.-49+27381G>C (n.-49+27381G>C) c.536G>C (p.Arg179Thr) | dbSNP |
| 22 | g.42693416C>T | CA411812151 | A4GALT,CYB5R3 | c.-49+27381G>A (n.-49+27381G>A) c.536G>A (p.Arg179Lys) | |
| 22 | g.42693417T>A | CA411812152 | A4GALT,CYB5R3 | c.-49+27380A>T (n.-49+27380A>T) c.535A>T (p.Arg179Trp) | |
| 22 | g.42693417T>C | CA10270274 | A4GALT,CYB5R3 | c.-49+27380A>G (n.-49+27380A>G) c.535A>G (p.Arg179Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693417T>G | CA515072707 | A4GALT,CYB5R3 | c.-49+27380A>C (n.-49+27380A>C) c.535A>C (p.Arg179=) | |
| 22 | g.42693417T= | CA2406870284 | A4GALT,CYB5R3 | c.-49+27380A= (n.-49+27380A=) c.535A= (p.Arg179=) | |
| 22 | g.42693418G>A | CA515072709 | A4GALT,CYB5R3 | c.-49+27379C>T (n.-49+27379C>T) c.534C>T (p.Ser178=) | |
| 22 | g.42693418G>C | CA515072711 | A4GALT,CYB5R3 | c.-49+27379C>G (n.-49+27379C>G) c.534C>G (p.Ser178=) | |
| 22 | g.42693418G>T | CA515072712 | A4GALT,CYB5R3 | c.-49+27379C>A (n.-49+27379C>A) c.534C>A (p.Ser178=) | |
| 22 | g.42693419G>A | CA411812153 | A4GALT,CYB5R3 | c.-49+27378C>T (n.-49+27378C>T) c.533C>T (p.Ser178Phe) | |
| 22 | g.42693419G>C | CA411812154 | A4GALT,CYB5R3 | c.-49+27378C>G (n.-49+27378C>G) c.533C>G (p.Ser178Cys) | |
| 22 | g.42693419G>T | CA411812155 | A4GALT,CYB5R3 | c.-49+27378C>A (n.-49+27378C>A) c.533C>A (p.Ser178Tyr) | |
| 22 | g.42693420A= | CA2406870285 | A4GALT,CYB5R3 | c.-49+27377T= (n.-49+27377T=) c.532T= (p.Ser178=) | |
| 22 | g.42693420A>C | CA411812158 | A4GALT,CYB5R3 | c.-49+27377T>G (n.-49+27377T>G) c.532T>G (p.Ser178Ala) | |
| 22 | g.42693420A>G | CA411812156 | A4GALT,CYB5R3 | c.-49+27377T>C (n.-49+27377T>C) c.532T>C (p.Ser178Pro) | |
| 22 | g.42693420A>T | CA411812157 | A4GALT,CYB5R3 | c.-49+27377T>A (n.-49+27377T>A) c.532T>A (p.Ser178Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693421G>A | CA324732321 | A4GALT,CYB5R3 | c.-49+27376C>T (n.-49+27376C>T) c.531C>T (p.Ala177=) | dbSNP |
| 22 | g.42693421G>C | CA515072723 | A4GALT,CYB5R3 | c.-49+27376C>G (n.-49+27376C>G) c.531C>G (p.Ala177=) | |
| 22 | g.42693421G= | CA2406870286 | A4GALT,CYB5R3 | c.-49+27376C= (n.-49+27376C=) c.531C= (p.Ala177=) | |
| 22 | g.42693421G>T | CA515072720 | A4GALT,CYB5R3 | c.-49+27376C>A (n.-49+27376C>A) c.531C>A (p.Ala177=) | |
| 22 | g.42693422G>A | CA411812159 | A4GALT,CYB5R3 | c.-49+27375C>T (n.-49+27375C>T) c.530C>T (p.Ala177Val) | |
| 22 | g.42693422G>C | CA411812160 | A4GALT,CYB5R3 | c.-49+27375C>G (n.-49+27375C>G) c.530C>G (p.Ala177Gly) | |
| 22 | g.42693422G= | CA2406870287 | A4GALT,CYB5R3 | c.-49+27375C= (n.-49+27375C=) c.530C= (p.Ala177=) | |
| 22 | g.42693422G>T | CA10270275 | A4GALT,CYB5R3 | c.-49+27375C>A (n.-49+27375C>A) c.530C>A (p.Ala177Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693423C>A | CA411812161 | A4GALT,CYB5R3 | c.-49+27374G>T (n.-49+27374G>T) c.529G>T (p.Ala177Ser) | |
| 22 | g.42693423C= | CA2406870288 | A4GALT,CYB5R3 | c.-49+27374G= (n.-49+27374G=) c.529G= (p.Ala177=) | |
| 22 | g.42693423C>G | CA411812162 | A4GALT,CYB5R3 | c.-49+27374G>C (n.-49+27374G>C) c.529G>C (p.Ala177Pro) | |
| 22 | g.42693423C>T | CA411812163 | A4GALT,CYB5R3 | c.-49+27374G>A (n.-49+27374G>A) c.529G>A (p.Ala177Thr) | dbSNP gnomAD v4 |
| 22 | g.42693424G>A | CA515072737 | A4GALT,CYB5R3 | c.-49+27373C>T (n.-49+27373C>T) c.528C>T (p.Asp176=) | dbSNP gnomAD v4 COSMIC |
| 22 | g.42693424G>C | CA411812164 | A4GALT,CYB5R3 | c.-49+27373C>G (n.-49+27373C>G) c.528C>G (p.Asp176Glu) | |
| 22 | g.42693424G= | CA2406870289 | A4GALT,CYB5R3 | c.-49+27373C= (n.-49+27373C=) c.528C= (p.Asp176=) | |
| 22 | g.42693424G>T | CA411812165 | A4GALT,CYB5R3 | c.-49+27373C>A (n.-49+27373C>A) c.528C>A (p.Asp176Glu) | gnomAD v4 |
| 22 | g.42693425T>A | CA411812166 | A4GALT,CYB5R3 | c.-49+27372A>T (n.-49+27372A>T) c.527A>T (p.Asp176Val) | |
| 22 | g.42693425T>C | CA411812167 | A4GALT,CYB5R3 | c.-49+27372A>G (n.-49+27372A>G) c.527A>G (p.Asp176Gly) | |
| 22 | g.42693425T>G | CA411812168 | A4GALT,CYB5R3 | c.-49+27372A>C (n.-49+27372A>C) c.527A>C (p.Asp176Ala) | |
| 22 | g.42693426C>A | CA411812169 | A4GALT,CYB5R3 | c.-49+27371G>T (n.-49+27371G>T) c.526G>T (p.Asp176Tyr) | |
| 22 | g.42693426C= | CA2406870290 | A4GALT,CYB5R3 | c.-49+27371G= (n.-49+27371G=) c.526G= (p.Asp176=) | |
| 22 | g.42693426C>G | CA411812170 | A4GALT,CYB5R3 | c.-49+27371G>C (n.-49+27371G>C) c.526G>C (p.Asp176His) | |
| 22 | g.42693426C>T | CA10270276 | A4GALT,CYB5R3 | c.-49+27371G>A (n.-49+27371G>A) c.526G>A (p.Asp176Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693427G>A | CA10270277 | A4GALT,CYB5R3 | c.-49+27370C>T (n.-49+27370C>T) c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693427G>C | CA515072755 | A4GALT,CYB5R3 | c.-49+27370C>G (n.-49+27370C>G) c.525C>G (p.Ser175=) | |
| 22 | g.42693427G= | CA2406870291 | A4GALT,CYB5R3 | c.-49+27370C= (n.-49+27370C=) c.525C= (p.Ser175=) | |
| 22 | g.42693427G>T | CA515072753 | A4GALT,CYB5R3 | c.-49+27370C>A (n.-49+27370C>A) c.525C>A (p.Ser175=) | |
| 22 | g.42693428G>A | CA411812171 | A4GALT,CYB5R3 | c.-49+27369C>T (n.-49+27369C>T) c.524C>T (p.Ser175Phe) | COSMIC |
| 22 | g.42693428G>C | CA411812172 | A4GALT,CYB5R3 | c.-49+27369C>G (n.-49+27369C>G) c.524C>G (p.Ser175Cys) | gnomAD v4 |
| 22 | g.42693428G>T | CA411812173 | A4GALT,CYB5R3 | c.-49+27369C>A (n.-49+27369C>A) c.524C>A (p.Ser175Tyr) | |
| 22 | g.42693429A>C | CA411812174 | A4GALT,CYB5R3 | c.-49+27368T>G (n.-49+27368T>G) c.523T>G (p.Ser175Ala) | gnomAD v4 |
| 22 | g.42693429A>G | CA411812175 | A4GALT,CYB5R3 | c.-49+27368T>C (n.-49+27368T>C) c.523T>C (p.Ser175Pro) | |
| 22 | g.42693429A>T | CA411812176 | A4GALT,CYB5R3 | c.-49+27368T>A (n.-49+27368T>A) c.523T>A (p.Ser175Thr) | |
| 22 | g.42693430G>A | CA515072772 | A4GALT,CYB5R3 | c.-49+27367C>T (n.-49+27367C>T) c.522C>T (p.Leu174=) | |
| 22 | g.42693430G>C | CA515072773 | A4GALT,CYB5R3 | c.-49+27367C>G (n.-49+27367C>G) c.522C>G (p.Leu174=) | |
| 22 | g.42693430G>T | CA515072774 | A4GALT,CYB5R3 | c.-49+27367C>A (n.-49+27367C>A) c.522C>A (p.Leu174=) | |
| 22 | g.42693431A= | CA2406870292 | A4GALT,CYB5R3 | c.-49+27366T= (n.-49+27366T=) c.521T= (p.Leu174=) | |
| 22 | g.42693431A>C | CA411812177 | A4GALT,CYB5R3 | c.-49+27366T>G (n.-49+27366T>G) c.521T>G (p.Leu174Arg) | |
| 22 | g.42693431A>G | CA411812178 | A4GALT,CYB5R3 | c.-49+27366T>C (n.-49+27366T>C) c.521T>C (p.Leu174Pro) | |
| 22 | g.42693431A>T | CA411812179 | A4GALT,CYB5R3 | c.-49+27366T>A (n.-49+27366T>A) c.521T>A (p.Leu174His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693432G>A | CA10270278 | A4GALT,CYB5R3 | c.-49+27365C>T (n.-49+27365C>T) c.520C>T (p.Leu174Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693432G>C | CA411812180 | A4GALT,CYB5R3 | c.-49+27365C>G (n.-49+27365C>G) c.520C>G (p.Leu174Val) | |
| 22 | g.42693432G= | CA2406870293 | A4GALT,CYB5R3 | c.-49+27365C= (n.-49+27365C=) c.520C= (p.Leu174=) | |
| 22 | g.42693432G>T | CA411812181 | A4GALT,CYB5R3 | c.-49+27365C>A (n.-49+27365C>A) c.520C>A (p.Leu174Ile) |