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.42692864G>C | CA2739761842 | A4GALT,CYB5R3 | c.-49+27933C>G (n.-49+27933C>G) c.*26C>G (n.*26C>G) | |
| 22 | g.42692864G= | CA2406869988 | A4GALT,CYB5R3 | c.-49+27933C= (n.-49+27933C=) c.*26C= (n.*26C=) | |
| 22 | g.42692864G>T | CA1025982028 | A4GALT,CYB5R3 | c.-49+27933C>A (n.-49+27933C>A) c.*26C>A (n.*26C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692865T>A | CA2739761843 | A4GALT,CYB5R3 | c.-49+27932A>T (n.-49+27932A>T) c.*25A>T (n.*25A>T) | |
| 22 | g.42692865T>C | CA2406869991 | A4GALT,CYB5R3 | c.-49+27932A>G (n.-49+27932A>G) c.*25A>G (n.*25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692865T>G | CA2739761844 | A4GALT,CYB5R3 | c.-49+27932A>C (n.-49+27932A>C) c.*25A>C (n.*25A>C) | |
| 22 | g.42692865T= | CA2406869990 | A4GALT,CYB5R3 | c.-49+27932A= (n.-49+27932A=) c.*25A= (n.*25A=) | |
| 22 | g.42692865_42692878delinsTTGGGGAGGTGACC | CA2406869989 | A4GALT,CYB5R3 | c.-49+27919_-49+27932delinsGGTCACCTCCCCAA (n.-49+27919_-49+27932delinsGGTCACCTCCCCAA) c.*12_*25delinsGGTCACCTCCCCAA (n.*12_*25delinsGGTCACCTCCCCAA) | |
| 22 | g.42692866T>A | CA2739761845 | A4GALT,CYB5R3 | c.-49+27931A>T (n.-49+27931A>T) c.*24A>T (n.*24A>T) | |
| 22 | g.42692866T>C | CA2739761846 | A4GALT,CYB5R3 | c.-49+27931A>G (n.-49+27931A>G) c.*24A>G (n.*24A>G) | |
| 22 | g.42692866T>G | CA2657078926 | A4GALT,CYB5R3 | c.-49+27931A>C (n.-49+27931A>C) c.*24A>C (n.*24A>C) | gnomAD v4 |
| 22 | g.42692866_42692867delinsTG | CA2406869992 | A4GALT,CYB5R3 | c.-49+27930_-49+27931delinsCA (n.-49+27930_-49+27931delinsCA) c.*23_*24delinsCA (n.*23_*24delinsCA) | |
| 22 | g.42692869_42692881del | CA639829267 | A4GALT,CYB5R3 | c.-49+27919_-49+27931del (n.-49+27919_-49+27931del) c.*12_*24del (n.*12_*24del) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692867G>A | CA2657078930 | A4GALT,CYB5R3 | c.-49+27930C>T (n.-49+27930C>T) c.*23C>T (n.*23C>T) | gnomAD v4 |
| 22 | g.42692867G>T | CA2577739301 | A4GALT,CYB5R3 | c.-49+27930C>A (n.-49+27930C>A) c.*23C>A (n.*23C>A) | |
| 22 | g.42692870del | CA639829268 | A4GALT,CYB5R3 | c.-49+27930del (n.-49+27930del) c.*23del (n.*23del) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692868G>A | CA2739761847 | A4GALT,CYB5R3 | c.-49+27929C>T (n.-49+27929C>T) c.*22C>T (n.*22C>T) | |
| 22 | g.42692868G>C | CA2739761848 | A4GALT,CYB5R3 | c.-49+27929C>G (n.-49+27929C>G) c.*22C>G (n.*22C>G) | |
| 22 | g.42692868G>T | CA2577739302 | A4GALT,CYB5R3 | c.-49+27929C>A (n.-49+27929C>A) c.*22C>A (n.*22C>A) | gnomAD v4 |
| 22 | g.42692869G>A | CA639829269 | A4GALT,CYB5R3 | c.-49+27928C>T (n.-49+27928C>T) c.*21C>T (n.*21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692869G>C | CA2739761849 | A4GALT,CYB5R3 | c.-49+27928C>G (n.-49+27928C>G) c.*21C>G (n.*21C>G) | |
| 22 | g.42692869G= | CA2406869993 | A4GALT,CYB5R3 | c.-49+27928C= (n.-49+27928C=) c.*21C= (n.*21C=) | |
| 22 | g.42692869G>T | CA2657078947 | A4GALT,CYB5R3 | c.-49+27928C>A (n.-49+27928C>A) c.*21C>A (n.*21C>A) | gnomAD v4 |
| 22 | g.42692870G>A | CA1025982029 | A4GALT,CYB5R3 | c.-49+27927C>T (n.-49+27927C>T) c.*20C>T (n.*20C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692870G= | CA2406869994 | A4GALT,CYB5R3 | c.-49+27927C= (n.-49+27927C=) c.*20C= (n.*20C=) | |
| 22 | g.42692871A>C | CA2739761850 | A4GALT,CYB5R3 | c.-49+27926T>G (n.-49+27926T>G) c.*19T>G (n.*19T>G) | |
| 22 | g.42692871A>G | CA2739761851 | A4GALT,CYB5R3 | c.-49+27926T>C (n.-49+27926T>C) c.*19T>C (n.*19T>C) | |
| 22 | g.42692871A>T | CA2657078950 | A4GALT,CYB5R3 | c.-49+27926T>A (n.-49+27926T>A) c.*19T>A (n.*19T>A) | gnomAD v4 |
| 22 | g.42692872G>A | CA2657078951 | A4GALT,CYB5R3 | c.-49+27925C>T (n.-49+27925C>T) c.*18C>T (n.*18C>T) | gnomAD v4 |
| 22 | g.42692872G>C | CA2739761852 | A4GALT,CYB5R3 | c.-49+27925C>G (n.-49+27925C>G) c.*18C>G (n.*18C>G) | |
| 22 | g.42692872G>T | CA2739761853 | A4GALT,CYB5R3 | c.-49+27925C>A (n.-49+27925C>A) c.*18C>A (n.*18C>A) | |
| 22 | g.42692873G>C | CA2739761854 | A4GALT,CYB5R3 | c.-49+27924C>G (n.-49+27924C>G) c.*17C>G (n.*17C>G) | |
| 22 | g.42692873G>T | CA2739761855 | A4GALT,CYB5R3 | c.-49+27924C>A (n.-49+27924C>A) c.*17C>A (n.*17C>A) | |
| 22 | g.42692874T>A | CA2739761856 | A4GALT,CYB5R3 | c.-49+27923A>T (n.-49+27923A>T) c.*16A>T (n.*16A>T) | |
| 22 | g.42692874T>C | CA2739761857 | A4GALT,CYB5R3 | c.-49+27923A>G (n.-49+27923A>G) c.*16A>G (n.*16A>G) | |
| 22 | g.42692874T>G | CA2739761858 | A4GALT,CYB5R3 | c.-49+27923A>C (n.-49+27923A>C) c.*16A>C (n.*16A>C) | |
| 22 | g.42692875G>A | CA2739761859 | A4GALT,CYB5R3 | c.-49+27922C>T (n.-49+27922C>T) c.*15C>T (n.*15C>T) | |
| 22 | g.42692875G>C | CA2739761860 | A4GALT,CYB5R3 | c.-49+27922C>G (n.-49+27922C>G) c.*15C>G (n.*15C>G) | |
| 22 | g.42692875G>T | CA2657078952 | A4GALT,CYB5R3 | c.-49+27922C>A (n.-49+27922C>A) c.*15C>A (n.*15C>A) | gnomAD v4 |
| 22 | g.42692876A= | CA2406869995 | A4GALT,CYB5R3 | c.-49+27921T= (n.-49+27921T=) c.*14T= (n.*14T=) | |
| 22 | g.42692876A>T | CA639829270 | A4GALT,CYB5R3 | c.-49+27921T>A (n.-49+27921T>A) c.*14T>A (n.*14T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692877C>A | CA2739761861 | A4GALT,CYB5R3 | c.-49+27920G>T (n.-49+27920G>T) c.*13G>T (n.*13G>T) | |
| 22 | g.42692877C= | CA2406869996 | A4GALT,CYB5R3 | c.-49+27920G= (n.-49+27920G=) c.*13G= (n.*13G=) | |
| 22 | g.42692877C>G | CA2739761862 | A4GALT,CYB5R3 | c.-49+27920G>C (n.-49+27920G>C) c.*13G>C (n.*13G>C) | |
| 22 | g.42692877C>T | CA10270136 | A4GALT,CYB5R3 | c.-49+27920G>A (n.-49+27920G>A) c.*13G>A (n.*13G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692878C>A | CA2739761865 | A4GALT,CYB5R3 | c.-49+27919G>T (n.-49+27919G>T) c.*12G>T (n.*12G>T) | |
| 22 | g.42692878C>G | CA2739761864 | A4GALT,CYB5R3 | c.-49+27919G>C (n.-49+27919G>C) c.*12G>C (n.*12G>C) | |
| 22 | g.42692878C>T | CA2739761863 | A4GALT,CYB5R3 | c.-49+27919G>A (n.-49+27919G>A) c.*12G>A (n.*12G>A) | |
| 22 | g.42692879T>C | CA2657078958 | A4GALT,CYB5R3 | c.-49+27918A>G (n.-49+27918A>G) c.*11A>G (n.*11A>G) | gnomAD v4 |
| 22 | g.42692879T>G | CA10270137 | A4GALT,CYB5R3 | c.-49+27918A>C (n.-49+27918A>C) c.*11A>C (n.*11A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692879T= | CA2406869997 | A4GALT,CYB5R3 | c.-49+27918A= (n.-49+27918A=) c.*11A= (n.*11A=) | |
| 22 | g.42692880G>A | CA2739761866 | A4GALT,CYB5R3 | c.-49+27917C>T (n.-49+27917C>T) c.*10C>T (n.*10C>T) | |
| 22 | g.42692880G>C | CA2406869999 | A4GALT,CYB5R3 | c.-49+27917C>G (n.-49+27917C>G) c.*10C>G (n.*10C>G) | dbSNP gnomAD v4 |
| 22 | g.42692880G= | CA2406869998 | A4GALT,CYB5R3 | c.-49+27917C= (n.-49+27917C=) c.*10C= (n.*10C=) | |
| 22 | g.42692880G>T | CA2739761867 | A4GALT,CYB5R3 | c.-49+27917C>A (n.-49+27917C>A) c.*10C>A (n.*10C>A) | |
| 22 | g.42692881del | CA2577739303 | A4GALT,CYB5R3 | c.-49+27917del (n.-49+27917del) c.*10del (n.*10del) | |
| 22 | g.42692881G>A | CA2657078962 | A4GALT,CYB5R3 | c.-49+27916C>T (n.-49+27916C>T) c.*9C>T (n.*9C>T) | gnomAD v4 |
| 22 | g.42692881G>C | CA2739761868 | A4GALT,CYB5R3 | c.-49+27916C>G (n.-49+27916C>G) c.*9C>G (n.*9C>G) | |
| 22 | g.42692881G>T | CA2657078964 | A4GALT,CYB5R3 | c.-49+27916C>A (n.-49+27916C>A) c.*9C>A (n.*9C>A) | gnomAD v4 |
| 22 | g.42692882C>A | CA2406870000 | A4GALT,CYB5R3 | c.-49+27915G>T (n.-49+27915G>T) c.*8G>T (n.*8G>T) | dbSNP gnomAD v4 |
| 22 | g.42692882C= | CA2406870001 | A4GALT,CYB5R3 | c.-49+27915G= (n.-49+27915G=) c.*8G= (n.*8G=) | |
| 22 | g.42692882C>G | CA10270138 | A4GALT,CYB5R3 | c.-49+27915G>C (n.-49+27915G>C) c.*8G>C (n.*8G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692882C>T | CA324732031 | A4GALT,CYB5R3 | c.-49+27915G>A (n.-49+27915G>A) c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692883G>A | CA10270139 | A4GALT,CYB5R3 | c.-49+27914C>T (n.-49+27914C>T) c.*7C>T (n.*7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692883G>C | CA2739761869 | A4GALT,CYB5R3 | c.-49+27914C>G (n.-49+27914C>G) c.*7C>G (n.*7C>G) | |
| 22 | g.42692883G= | CA2406870002 | A4GALT,CYB5R3 | c.-49+27914C= (n.-49+27914C=) c.*7C= (n.*7C=) | |
| 22 | g.42692883G>T | CA2739761870 | A4GALT,CYB5R3 | c.-49+27914C>A (n.-49+27914C>A) c.*7C>A (n.*7C>A) | |
| 22 | g.42692884G>A | CA10270140 | A4GALT,CYB5R3 | c.-49+27913C>T (n.-49+27913C>T) c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692884G>C | CA2739761871 | A4GALT,CYB5R3 | c.-49+27913C>G (n.-49+27913C>G) c.*6C>G (n.*6C>G) | |
| 22 | g.42692884G= | CA2406870003 | A4GALT,CYB5R3 | c.-49+27913C= (n.-49+27913C=) c.*6C= (n.*6C=) | |
| 22 | g.42692884G>T | CA2739761872 | A4GALT,CYB5R3 | c.-49+27913C>A (n.-49+27913C>A) c.*6C>A (n.*6C>A) | |
| 22 | g.42692885G>A | CA2406870005 | A4GALT,CYB5R3 | c.-49+27912C>T (n.-49+27912C>T) c.*5C>T (n.*5C>T) | dbSNP |
| 22 | g.42692885G= | CA2406870006 | A4GALT,CYB5R3 | c.-49+27912C= (n.-49+27912C=) c.*5C= (n.*5C=) | |
| 22 | g.42692885G>T | CA2657078973 | A4GALT,CYB5R3 | c.-49+27912C>A (n.-49+27912C>A) c.*5C>A (n.*5C>A) | gnomAD v4 |
| 22 | g.42692885_42692886delinsGC | CA2406870004 | A4GALT,CYB5R3 | c.-49+27911_-49+27912delinsGC (n.-49+27911_-49+27912delinsGC) c.*4_*5delinsGC (n.*4_*5delinsGC) | |
| 22 | g.42692886C>A | CA2739761873 | A4GALT,CYB5R3 | c.-49+27911G>T (n.-49+27911G>T) c.*4G>T (n.*4G>T) | |
| 22 | g.42692886C= | CA2406870007 | A4GALT,CYB5R3 | c.-49+27911G= (n.-49+27911G=) c.*4G= (n.*4G=) | |
| 22 | g.42692886C>G | CA753382356 | A4GALT,CYB5R3 | c.-49+27911G>C (n.-49+27911G>C) c.*4G>C (n.*4G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692886C>T | CA10270141 | A4GALT,CYB5R3 | c.-49+27911G>A (n.-49+27911G>A) c.*4G>A (n.*4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692889del | CA1025982030 | A4GALT,CYB5R3 | c.-49+27911del (n.-49+27911del) c.*4del (n.*4del) | dbSNP |
| 22 | g.42692887C>A | CA2739761874 | A4GALT,CYB5R3 | c.-49+27910G>T (n.-49+27910G>T) c.*3G>T (n.*3G>T) | |
| 22 | g.42692887C= | CA2406870008 | A4GALT,CYB5R3 | c.-49+27910G= (n.-49+27910G=) c.*3G= (n.*3G=) | |
| 22 | g.42692887C>G | CA2739761875 | A4GALT,CYB5R3 | c.-49+27910G>C (n.-49+27910G>C) c.*3G>C (n.*3G>C) | |
| 22 | g.42692887C>T | CA10270142 | A4GALT,CYB5R3 | c.-49+27910G>A (n.-49+27910G>A) c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692888C>A | CA10270143 | A4GALT,CYB5R3 | c.-49+27909G>T (n.-49+27909G>T) c.*2G>T (n.*2G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692888C= | CA2406870009 | A4GALT,CYB5R3 | c.-49+27909G= (n.-49+27909G=) c.*2G= (n.*2G=) | |
| 22 | g.42692888C>G | CA2739761876 | A4GALT,CYB5R3 | c.-49+27909G>C (n.-49+27909G>C) c.*2G>C (n.*2G>C) | |
| 22 | g.42692888C>T | CA10270144 | A4GALT,CYB5R3 | c.-49+27909G>A (n.-49+27909G>A) c.*2G>A (n.*2G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692889C>A | CA2739761877 | A4GALT,CYB5R3 | c.-49+27908G>T (n.-49+27908G>T) c.*1G>T (n.*1G>T) | |
| 22 | g.42692889C>G | CA2739761878 | A4GALT,CYB5R3 | c.-49+27908G>C (n.-49+27908G>C) c.*1G>C (n.*1G>C) | |
| 22 | g.42692889C>T | CA2739761879 | A4GALT,CYB5R3 | c.-49+27908G>A (n.-49+27908G>A) c.*1G>A (n.*1G>A) | |
| 22 | g.42692890T>A | CA411809925 | A4GALT,CYB5R3 | c.-49+27907A>T (n.-49+27907A>T) c.1062A>T (p.Ter354Cys) | |
| 22 | g.42692890T>C | CA411809927 | A4GALT,CYB5R3 | c.-49+27907A>G (n.-49+27907A>G) c.1062A>G (p.Ter354Trp) | gnomAD v4 |
| 22 | g.42692890T>G | CA411809926 | A4GALT,CYB5R3 | c.-49+27907A>C (n.-49+27907A>C) c.1062A>C (p.Ter354Cys) | |
| 22 | g.42692891C>A | CA411809928 | A4GALT,CYB5R3 | c.-49+27906G>T (n.-49+27906G>T) c.1061G>T (p.Ter354Leu) | |
| 22 | g.42692891C>G | CA411809929 | A4GALT,CYB5R3 | c.-49+27906G>C (n.-49+27906G>C) c.1061G>C (p.Ter354Ser) | |
| 22 | g.42692891C>T | CA515062557 | A4GALT,CYB5R3 | c.-49+27906G>A (n.-49+27906G>A) c.1061G>A (p.Ter354=) | gnomAD v4 |
| 22 | g.42692892A= | CA2406870010 | A4GALT,CYB5R3 | c.-49+27905T= (n.-49+27905T=) c.1060T= (p.Ter354=) | |
| 22 | g.42692892A>C | CA411809930 | A4GALT,CYB5R3 | c.-49+27905T>G (n.-49+27905T>G) c.1060T>G (p.Ter354Gly) | |
| 22 | g.42692892A>G | CA411809931 | A4GALT,CYB5R3 | c.-49+27905T>C (n.-49+27905T>C) c.1060T>C (p.Ter354Arg) | |
| 22 | g.42692892A>T | CA411809932 | A4GALT,CYB5R3 | c.-49+27905T>A (n.-49+27905T>A) c.1060T>A (p.Ter354Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692893C>A | CA411809933 | A4GALT,CYB5R3 | c.-49+27904G>T (n.-49+27904G>T) c.1059G>T (p.Leu353Phe) | |
| 22 | g.42692893C= | CA2406870011 | A4GALT,CYB5R3 | c.-49+27904G= (n.-49+27904G=) c.1059G= (p.Leu353=) | |
| 22 | g.42692893C>G | CA411809934 | A4GALT,CYB5R3 | c.-49+27904G>C (n.-49+27904G>C) c.1059G>C (p.Leu353Phe) | gnomAD v4 |
| 22 | g.42692893C>T | CA10270145 | A4GALT,CYB5R3 | c.-49+27904G>A (n.-49+27904G>A) c.1059G>A (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692894A>C | CA411809935 | A4GALT,CYB5R3 | c.-49+27903T>G (n.-49+27903T>G) c.1058T>G (p.Leu353Trp) | |
| 22 | g.42692894A>G | CA411809936 | A4GALT,CYB5R3 | c.-49+27903T>C (n.-49+27903T>C) c.1058T>C (p.Leu353Ser) | |
| 22 | g.42692894A>T | CA411809937 | A4GALT,CYB5R3 | c.-49+27903T>A (n.-49+27903T>A) c.1058T>A (p.Leu353Ter) | |
| 22 | g.42692895A>C | CA411809939 | A4GALT,CYB5R3 | c.-49+27902T>G (n.-49+27902T>G) c.1057T>G (p.Leu353Val) | |
| 22 | g.42692895A>G | CA515062567 | A4GALT,CYB5R3 | c.-49+27902T>C (n.-49+27902T>C) c.1057T>C (p.Leu353=) | |
| 22 | g.42692895A>T | CA411809938 | A4GALT,CYB5R3 | c.-49+27902T>A (n.-49+27902T>A) c.1057T>A (p.Leu353Met) | |
| 22 | g.42692896G>A | CA10270146 | A4GALT,CYB5R3 | c.-49+27901C>T (n.-49+27901C>T) c.1056C>T (p.Tyr352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692896G>C | CA411809940 | A4GALT,CYB5R3 | c.-49+27901C>G (n.-49+27901C>G) c.1056C>G (p.Tyr352Ter) | |
| 22 | g.42692896G= | CA2406870012 | A4GALT,CYB5R3 | c.-49+27901C= (n.-49+27901C=) c.1056C= (p.Tyr352=) | |
| 22 | g.42692896G>T | CA411809941 | A4GALT,CYB5R3 | c.-49+27901C>A (n.-49+27901C>A) c.1056C>A (p.Tyr352Ter) | |
| 22 | g.42692897T>A | CA411809942 | A4GALT,CYB5R3 | c.-49+27900A>T (n.-49+27900A>T) c.1055A>T (p.Tyr352Phe) | |
| 22 | g.42692897T>C | CA10270147 | A4GALT,CYB5R3 | c.-49+27900A>G (n.-49+27900A>G) c.1055A>G (p.Tyr352Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692897T>G | CA411809943 | A4GALT,CYB5R3 | c.-49+27900A>C (n.-49+27900A>C) c.1055A>C (p.Tyr352Ser) | |
| 22 | g.42692897T= | CA2406870013 | A4GALT,CYB5R3 | c.-49+27900A= (n.-49+27900A=) c.1055A= (p.Tyr352=) | |
| 22 | g.42692898A>C | CA411809944 | A4GALT,CYB5R3 | c.-49+27899T>G (n.-49+27899T>G) c.1054T>G (p.Tyr352Asp) | |
| 22 | g.42692898A>G | CA411809945 | A4GALT,CYB5R3 | c.-49+27899T>C (n.-49+27899T>C) c.1054T>C (p.Tyr352His) | gnomAD v4 |
| 22 | g.42692898A>T | CA411809946 | A4GALT,CYB5R3 | c.-49+27899T>A (n.-49+27899T>A) c.1054T>A (p.Tyr352Asn) | |
| 22 | g.42692899_42692900del | CA2577739304 | A4GALT,CYB5R3 | c.-49+27898_-49+27899del (n.-49+27898_-49+27899del) c.1053_1054del (p.Met351IlefsTer?) | |
| 22 | g.42692899C>A | CA411809947 | A4GALT,CYB5R3 | c.-49+27898G>T (n.-49+27898G>T) c.1053G>T (p.Met351Ile) | |
| 22 | g.42692899C>G | CA411809948 | A4GALT,CYB5R3 | c.-49+27898G>C (n.-49+27898G>C) c.1053G>C (p.Met351Ile) | |
| 22 | g.42692899C>T | CA411809949 | A4GALT,CYB5R3 | c.-49+27898G>A (n.-49+27898G>A) c.1053G>A (p.Met351Ile) | gnomAD v4 |
| 22 | g.42692900A= | CA2406870014 | A4GALT,CYB5R3 | c.-49+27897T= (n.-49+27897T=) c.1052T= (p.Met351=) | |
| 22 | g.42692900A>C | CA10270148 | A4GALT,CYB5R3 | c.-49+27897T>G (n.-49+27897T>G) c.1052T>G (p.Met351Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692900A>G | CA411809951 | A4GALT,CYB5R3 | c.-49+27897T>C (n.-49+27897T>C) c.1052T>C (p.Met351Thr) | |
| 22 | g.42692900A>T | CA411809950 | A4GALT,CYB5R3 | c.-49+27897T>A (n.-49+27897T>A) c.1052T>A (p.Met351Lys) | |
| 22 | g.42692901T>A | CA411809952 | A4GALT,CYB5R3 | c.-49+27896A>T (n.-49+27896A>T) c.1051A>T (p.Met351Leu) | |
| 22 | g.42692901T>C | CA411809953 | A4GALT,CYB5R3 | c.-49+27896A>G (n.-49+27896A>G) c.1051A>G (p.Met351Val) | |
| 22 | g.42692901T>G | CA411809954 | A4GALT,CYB5R3 | c.-49+27896A>C (n.-49+27896A>C) c.1051A>C (p.Met351Leu) | |
| 22 | g.42692904del | CA2657079000 | A4GALT,CYB5R3 | c.-49+27896del (n.-49+27896del) c.1051del (p.Met351CysfsTer?) | gnomAD v4 |
| 22 | g.42692902T>A | CA411809955 | A4GALT,CYB5R3 | c.-49+27895A>T (n.-49+27895A>T) c.1050A>T (p.Lys350Asn) | |
| 22 | g.42692902T>C | CA515062594 | A4GALT,CYB5R3 | c.-49+27895A>G (n.-49+27895A>G) c.1050A>G (p.Lys350=) | dbSNP |
| 22 | g.42692902T>G | CA411809956 | A4GALT,CYB5R3 | c.-49+27895A>C (n.-49+27895A>C) c.1050A>C (p.Lys350Asn) | |
| 22 | g.42692903T>A | CA411809958 | A4GALT,CYB5R3 | c.-49+27894A>T (n.-49+27894A>T) c.1049A>T (p.Lys350Ile) | |
| 22 | g.42692903T>C | CA411809957 | A4GALT,CYB5R3 | c.-49+27894A>G (n.-49+27894A>G) c.1049A>G (p.Lys350Arg) | |
| 22 | g.42692903T>G | CA324732048 | A4GALT,CYB5R3 | c.-49+27894A>C (n.-49+27894A>C) c.1049A>C (p.Lys350Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692903T= | CA2406870015 | A4GALT,CYB5R3 | c.-49+27894A= (n.-49+27894A=) c.1049A= (p.Lys350=) | |
| 22 | g.42692904T>A | CA411809959 | A4GALT,CYB5R3 | c.-49+27893A>T (n.-49+27893A>T) c.1048A>T (p.Lys350Ter) | |
| 22 | g.42692904T>C | CA411809960 | A4GALT,CYB5R3 | c.-49+27893A>G (n.-49+27893A>G) c.1048A>G (p.Lys350Glu) | |
| 22 | g.42692904T>G | CA411809961 | A4GALT,CYB5R3 | c.-49+27893A>C (n.-49+27893A>C) c.1048A>C (p.Lys350Gln) | |
| 22 | g.42692905C>A | CA411809962 | A4GALT,CYB5R3 | c.-49+27892G>T (n.-49+27892G>T) c.1047G>T (p.Met349Ile) | |
| 22 | g.42692905C>G | CA411809963 | A4GALT,CYB5R3 | c.-49+27892G>C (n.-49+27892G>C) c.1047G>C (p.Met349Ile) | |
| 22 | g.42692905C>T | CA411809964 | A4GALT,CYB5R3 | c.-49+27892G>A (n.-49+27892G>A) c.1047G>A (p.Met349Ile) | gnomAD v4 |
| 22 | g.42692906A= | CA2406870016 | A4GALT,CYB5R3 | c.-49+27891T= (n.-49+27891T=) c.1046T= (p.Met349=) | |
| 22 | g.42692906A>C | CA411809967 | A4GALT,CYB5R3 | c.-49+27891T>G (n.-49+27891T>G) c.1046T>G (p.Met349Arg) | |
| 22 | g.42692906A>G | CA411809966 | A4GALT,CYB5R3 | c.-49+27891T>C (n.-49+27891T>C) c.1046T>C (p.Met349Thr) | dbSNP gnomAD v4 |
| 22 | g.42692906A>T | CA411809965 | A4GALT,CYB5R3 | c.-49+27891T>A (n.-49+27891T>A) c.1046T>A (p.Met349Lys) | |
| 22 | g.42692907T>A | CA411809969 | A4GALT,CYB5R3 | c.-49+27890A>T (n.-49+27890A>T) c.1045A>T (p.Met349Leu) | |
| 22 | g.42692907T>C | CA411809968 | A4GALT,CYB5R3 | c.-49+27890A>G (n.-49+27890A>G) c.1045A>G (p.Met349Val) | gnomAD v4 |
| 22 | g.42692907T>G | CA411809970 | A4GALT,CYB5R3 | c.-49+27890A>C (n.-49+27890A>C) c.1045A>C (p.Met349Leu) | |
| 22 | g.42692908G>A | CA515062613 | A4GALT,CYB5R3 | c.-49+27889C>T (n.-49+27889C>T) c.1044C>T (p.Ala348=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692908G>C | CA515062615 | A4GALT,CYB5R3 | c.-49+27889C>G (n.-49+27889C>G) c.1044C>G (p.Ala348=) | |
| 22 | g.42692908G= | CA2406870017 | A4GALT,CYB5R3 | c.-49+27889C= (n.-49+27889C=) c.1044C= (p.Ala348=) | |
| 22 | g.42692908G>T | CA515062616 | A4GALT,CYB5R3 | c.-49+27889C>A (n.-49+27889C>A) c.1044C>A (p.Ala348=) | gnomAD v4 |
| 22 | g.42692909G>A | CA411809971 | A4GALT,CYB5R3 | c.-49+27888C>T (n.-49+27888C>T) c.1043C>T (p.Ala348Val) | gnomAD v4 |
| 22 | g.42692909G>C | CA411809972 | A4GALT,CYB5R3 | c.-49+27888C>G (n.-49+27888C>G) c.1043C>G (p.Ala348Gly) | |
| 22 | g.42692909G>T | CA411809973 | A4GALT,CYB5R3 | c.-49+27888C>A (n.-49+27888C>A) c.1043C>A (p.Ala348Asp) | gnomAD v4 |
| 22 | g.42692910C>A | CA411809974 | A4GALT,CYB5R3 | c.-49+27887G>T (n.-49+27887G>T) c.1042G>T (p.Ala348Ser) | |
| 22 | g.42692910C>G | CA411809975 | A4GALT,CYB5R3 | c.-49+27887G>C (n.-49+27887G>C) c.1042G>C (p.Ala348Pro) | |
| 22 | g.42692910C>T | CA411809976 | A4GALT,CYB5R3 | c.-49+27887G>A (n.-49+27887G>A) c.1042G>A (p.Ala348Thr) | |
| 22 | g.42692911C>A | CA411809977 | A4GALT,CYB5R3 | c.-49+27886G>T (n.-49+27886G>T) c.1041G>T (p.Glu347Asp) | |
| 22 | g.42692911C= | CA2406870018 | A4GALT,CYB5R3 | c.-49+27886G= (n.-49+27886G=) c.1041G= (p.Glu347=) | |
| 22 | g.42692911C>G | CA411809978 | A4GALT,CYB5R3 | c.-49+27886G>C (n.-49+27886G>C) c.1041G>C (p.Glu347Asp) | |
| 22 | g.42692911C>T | CA10270149 | A4GALT,CYB5R3 | c.-49+27886G>A (n.-49+27886G>A) c.1041G>A (p.Glu347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692912T>A | CA411809979 | A4GALT,CYB5R3 | c.-49+27885A>T (n.-49+27885A>T) c.1040A>T (p.Glu347Val) | |
| 22 | g.42692912T>C | CA411809980 | A4GALT,CYB5R3 | c.-49+27885A>G (n.-49+27885A>G) c.1040A>G (p.Glu347Gly) | |
| 22 | g.42692912T>G | CA411809981 | A4GALT,CYB5R3 | c.-49+27885A>C (n.-49+27885A>C) c.1040A>C (p.Glu347Ala) | |
| 22 | g.42692917_42692923del | CA2657079016 | A4GALT,CYB5R3 | c.-49+27879_-49+27885del (n.-49+27879_-49+27885del) c.1034_1040del (p.Thr345ArgfsTer3) | gnomAD v4 |
| 22 | g.42692913C>A | CA411809983 | A4GALT,CYB5R3 | c.-49+27884G>T (n.-49+27884G>T) c.1039G>T (p.Glu347Ter) | gnomAD v4 |
| 22 | g.42692913C= | CA2406870019 | A4GALT,CYB5R3 | c.-49+27884G= (n.-49+27884G=) c.1039G= (p.Glu347=) | |
| 22 | g.42692913C>G | CA411809982 | A4GALT,CYB5R3 | c.-49+27884G>C (n.-49+27884G>C) c.1039G>C (p.Glu347Gln) | gnomAD v4 |
| 22 | g.42692913C>T | CA10270150 | A4GALT,CYB5R3 | c.-49+27884G>A (n.-49+27884G>A) c.1039G>A (p.Glu347Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692914G>A | CA10270151 | A4GALT,CYB5R3 | c.-49+27883C>T (n.-49+27883C>T) c.1038C>T (p.His346=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692914G>C | CA411809984 | A4GALT,CYB5R3 | c.-49+27883C>G (n.-49+27883C>G) c.1038C>G (p.His346Gln) | |
| 22 | g.42692914G= | CA2406870020 | A4GALT,CYB5R3 | c.-49+27883C= (n.-49+27883C=) c.1038C= (p.His346=) | |
| 22 | g.42692914G>T | CA411809985 | A4GALT,CYB5R3 | c.-49+27883C>A (n.-49+27883C>A) c.1038C>A (p.His346Gln) | gnomAD v4 |
| 22 | g.42692915T>A | CA10270152 | A4GALT,CYB5R3 | c.-49+27882A>T (n.-49+27882A>T) c.1037A>T (p.His346Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692915T>C | CA411809986 | A4GALT,CYB5R3 | c.-49+27882A>G (n.-49+27882A>G) c.1037A>G (p.His346Arg) | |
| 22 | g.42692915T>G | CA411809987 | A4GALT,CYB5R3 | c.-49+27882A>C (n.-49+27882A>C) c.1037A>C (p.His346Pro) | |
| 22 | g.42692915T= | CA2406870021 | A4GALT,CYB5R3 | c.-49+27882A= (n.-49+27882A=) c.1037A= (p.His346=) | |
| 22 | g.42692916G>A | CA411809988 | A4GALT,CYB5R3 | c.-49+27881C>T (n.-49+27881C>T) c.1036C>T (p.His346Tyr) | |
| 22 | g.42692916G>C | CA411809989 | A4GALT,CYB5R3 | c.-49+27881C>G (n.-49+27881C>G) c.1036C>G (p.His346Asp) | |
| 22 | g.42692916G>T | CA411809990 | A4GALT,CYB5R3 | c.-49+27881C>A (n.-49+27881C>A) c.1036C>A (p.His346Asn) | gnomAD v4 |
| 22 | g.42692917C>A | CA515062643 | A4GALT,CYB5R3 | c.-49+27880G>T (n.-49+27880G>T) c.1035G>T (p.Thr345=) | dbSNP gnomAD v4 |
| 22 | g.42692917C= | CA2406870022 | A4GALT,CYB5R3 | c.-49+27880G= (n.-49+27880G=) c.1035G= (p.Thr345=) | |
| 22 | g.42692917C>G | CA10270153 | A4GALT,CYB5R3 | c.-49+27880G>C (n.-49+27880G>C) c.1035G>C (p.Thr345=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.42692917C>T | CA324732056 | A4GALT,CYB5R3 | c.-49+27880G>A (n.-49+27880G>A) c.1035G>A (p.Thr345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692918G>A | CA10270154 | A4GALT,CYB5R3 | c.-49+27879C>T (n.-49+27879C>T) c.1034C>T (p.Thr345Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42692918G>C | CA411809992 | A4GALT,CYB5R3 | c.-49+27879C>G (n.-49+27879C>G) c.1034C>G (p.Thr345Arg) | gnomAD v4 |
| 22 | g.42692918G= | CA2406870023 | A4GALT,CYB5R3 | c.-49+27879C= (n.-49+27879C=) c.1034C= (p.Thr345=) | |
| 22 | g.42692918G>T | CA411809991 | A4GALT,CYB5R3 | c.-49+27879C>A (n.-49+27879C>A) c.1034C>A (p.Thr345Lys) | |
| 22 | g.42692919T>A | CA411809993 | A4GALT,CYB5R3 | c.-49+27878A>T (n.-49+27878A>T) c.1033A>T (p.Thr345Ser) | |
| 22 | g.42692919T>C | CA411809994 | A4GALT,CYB5R3 | c.-49+27878A>G (n.-49+27878A>G) c.1033A>G (p.Thr345Ala) | |
| 22 | g.42692919T>G | CA411809995 | A4GALT,CYB5R3 | c.-49+27878A>C (n.-49+27878A>C) c.1033A>C (p.Thr345Pro) | |
| 22 | g.42692920C>A | CA515062652 | A4GALT,CYB5R3 | c.-49+27877G>T (n.-49+27877G>T) c.1032G>T (p.Thr344=) | gnomAD v4 |
| 22 | g.42692920C= | CA2406870024 | A4GALT,CYB5R3 | c.-49+27877G= (n.-49+27877G=) c.1032G= (p.Thr344=) | |
| 22 | g.42692920C>G | CA515062655 | A4GALT,CYB5R3 | c.-49+27877G>C (n.-49+27877G>C) c.1032G>C (p.Thr344=) | |
| 22 | g.42692920C>T | CA10270155 | A4GALT,CYB5R3 | c.-49+27877G>A (n.-49+27877G>A) c.1032G>A (p.Thr344=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692921G>A | CA10270156 | A4GALT,CYB5R3 | c.-49+27876C>T (n.-49+27876C>T) c.1031C>T (p.Thr344Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692921G>C | CA411809996 | A4GALT,CYB5R3 | c.-49+27876C>G (n.-49+27876C>G) c.1031C>G (p.Thr344Arg) | |
| 22 | g.42692921G= | CA2406870025 | A4GALT,CYB5R3 | c.-49+27876C= (n.-49+27876C=) c.1031C= (p.Thr344=) | |
| 22 | g.42692921G>T | CA411809997 | A4GALT,CYB5R3 | c.-49+27876C>A (n.-49+27876C>A) c.1031C>A (p.Thr344Lys) | gnomAD v4 |
| 22 | g.42692922T>A | CA411809998 | A4GALT,CYB5R3 | c.-49+27875A>T (n.-49+27875A>T) c.1030A>T (p.Thr344Ser) | |
| 22 | g.42692922T>C | CA411810000 | A4GALT,CYB5R3 | c.-49+27875A>G (n.-49+27875A>G) c.1030A>G (p.Thr344Ala) | dbSNP |
| 22 | g.42692922T>G | CA411809999 | A4GALT,CYB5R3 | c.-49+27875A>C (n.-49+27875A>C) c.1030A>C (p.Thr344Pro) | |
| 22 | g.42692922T= | CA2406870026 | A4GALT,CYB5R3 | c.-49+27875A= (n.-49+27875A=) c.1030A= (p.Thr344=) | |
| 22 | g.42692926_42692948dup | CA2657079055 | A4GALT,CYB5R3 | c.-49+27853_-49+27875dup (n.-49+27853_-49+27875dup) c.1008_1030dup (p.Thr344SerfsTer14) | gnomAD v4 |
| 22 | g.42692923G>A | CA515070459 | A4GALT,CYB5R3 | c.-49+27874C>T (n.-49+27874C>T) c.1029C>T (p.Pro343=) | |
| 22 | g.42692923G>C | CA515070460 | A4GALT,CYB5R3 | c.-49+27874C>G (n.-49+27874C>G) c.1029C>G (p.Pro343=) | |
| 22 | g.42692923G>T | CA515070461 | A4GALT,CYB5R3 | c.-49+27874C>A (n.-49+27874C>A) c.1029C>A (p.Pro343=) | gnomAD v4 |
| 22 | g.42692926dup | CA115693 | A4GALT,CYB5R3 | c.-49+27874dup (n.-49+27874dup) c.1029dup (p.Thr344HisfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692924G>A | CA411810001 | A4GALT,CYB5R3 | c.-49+27873C>T (n.-49+27873C>T) c.1028C>T (p.Pro343Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692924G>C | CA411810002 | A4GALT,CYB5R3 | c.-49+27873C>G (n.-49+27873C>G) c.1028C>G (p.Pro343Arg) | |
| 22 | g.42692924G= | CA2406870027 | A4GALT,CYB5R3 | c.-49+27873C= (n.-49+27873C=) c.1028C= (p.Pro343=) | |
| 22 | g.42692924G>T | CA411810003 | A4GALT,CYB5R3 | c.-49+27873C>A (n.-49+27873C>A) c.1028C>A (p.Pro343His) | |
| 22 | g.42692925G>A | CA411810004 | A4GALT,CYB5R3 | c.-49+27872C>T (n.-49+27872C>T) c.1027C>T (p.Pro343Ser) | |
| 22 | g.42692925G>C | CA411810006 | A4GALT,CYB5R3 | c.-49+27872C>G (n.-49+27872C>G) c.1027C>G (p.Pro343Ala) | |
| 22 | g.42692925G>T | CA411810005 | A4GALT,CYB5R3 | c.-49+27872C>A (n.-49+27872C>A) c.1027C>A (p.Pro343Thr) | gnomAD v4 |
| 22 | g.42692926G>A | CA515070462 | A4GALT,CYB5R3 | c.-49+27871C>T (n.-49+27871C>T) c.1026C>T (p.Cys342=) | |
| 22 | g.42692926G>C | CA411810007 | A4GALT,CYB5R3 | c.-49+27871C>G (n.-49+27871C>G) c.1026C>G (p.Cys342Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692926G= | CA2406870028 | A4GALT,CYB5R3 | c.-49+27871C= (n.-49+27871C=) c.1026C= (p.Cys342=) | |
| 22 | g.42692926G>T | CA411810008 | A4GALT,CYB5R3 | c.-49+27871C>A (n.-49+27871C>A) c.1026C>A (p.Cys342Ter) | gnomAD v4 |
| 22 | g.42692927C>A | CA411810009 | A4GALT,CYB5R3 | c.-49+27870G>T (n.-49+27870G>T) c.1025G>T (p.Cys342Phe) | |
| 22 | g.42692927C>G | CA411810010 | A4GALT,CYB5R3 | c.-49+27870G>C (n.-49+27870G>C) c.1025G>C (p.Cys342Ser) | |
| 22 | g.42692927C>T | CA411810011 | A4GALT,CYB5R3 | c.-49+27870G>A (n.-49+27870G>A) c.1025G>A (p.Cys342Tyr) | gnomAD v4 |
| 22 | g.42692928A>C | CA411810012 | A4GALT,CYB5R3 | c.-49+27869T>G (n.-49+27869T>G) c.1024T>G (p.Cys342Gly) | |
| 22 | g.42692928A>G | CA411810013 | A4GALT,CYB5R3 | c.-49+27869T>C (n.-49+27869T>C) c.1024T>C (p.Cys342Arg) | |
| 22 | g.42692928A>T | CA411810014 | A4GALT,CYB5R3 | c.-49+27869T>A (n.-49+27869T>A) c.1024T>A (p.Cys342Ser) | |
| 22 | g.42692929G>A | CA515070463 | A4GALT,CYB5R3 | c.-49+27868C>T (n.-49+27868C>T) c.1023C>T (p.Tyr341=) | gnomAD v4 |
| 22 | g.42692929G>C | CA411810015 | A4GALT,CYB5R3 | c.-49+27868C>G (n.-49+27868C>G) c.1023C>G (p.Tyr341Ter) | |
| 22 | g.42692929G>T | CA411810016 | A4GALT,CYB5R3 | c.-49+27868C>A (n.-49+27868C>A) c.1023C>A (p.Tyr341Ter) | gnomAD v4 |
| 22 | g.42692930T>A | CA411810017 | A4GALT,CYB5R3 | c.-49+27867A>T (n.-49+27867A>T) c.1022A>T (p.Tyr341Phe) | |
| 22 | g.42692930T>C | CA10270157 | A4GALT,CYB5R3 | c.-49+27867A>G (n.-49+27867A>G) c.1022A>G (p.Tyr341Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692930T>G | CA411810018 | A4GALT,CYB5R3 | c.-49+27867A>C (n.-49+27867A>C) c.1022A>C (p.Tyr341Ser) | |
| 22 | g.42692930T= | CA2406870029 | A4GALT,CYB5R3 | c.-49+27867A= (n.-49+27867A=) c.1022A= (p.Tyr341=) | |
| 22 | g.42692931A= | CA2406870030 | A4GALT,CYB5R3 | c.-49+27866T= (n.-49+27866T=) c.1021T= (p.Tyr341=) | |
| 22 | g.42692931A>C | CA411810020 | A4GALT,CYB5R3 | c.-49+27866T>G (n.-49+27866T>G) c.1021T>G (p.Tyr341Asp) | |
| 22 | g.42692931A>G | CA10270158 | A4GALT,CYB5R3 | c.-49+27866T>C (n.-49+27866T>C) c.1021T>C (p.Tyr341His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692931A>T | CA411810019 | A4GALT,CYB5R3 | c.-49+27866T>A (n.-49+27866T>A) c.1021T>A (p.Tyr341Asn) | |
| 22 | g.42692932G>A | CA515070466 | A4GALT,CYB5R3 | c.-49+27865C>T (n.-49+27865C>T) c.1020C>T (p.Arg340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692932G>C | CA515070465 | A4GALT,CYB5R3 | c.-49+27865C>G (n.-49+27865C>G) c.1020C>G (p.Arg340=) | |
| 22 | g.42692932G= | CA2406870031 | A4GALT,CYB5R3 | c.-49+27865C= (n.-49+27865C=) c.1020C= (p.Arg340=) | |
| 22 | g.42692932G>T | CA515070464 | A4GALT,CYB5R3 | c.-49+27865C>A (n.-49+27865C>A) c.1020C>A (p.Arg340=) | gnomAD v4 |
| 22 | g.42692933C>A | CA411810021 | A4GALT,CYB5R3 | c.-49+27864G>T (n.-49+27864G>T) c.1019G>T (p.Arg340Leu) | |
| 22 | g.42692933C= | CA2406870032 | A4GALT,CYB5R3 | c.-49+27864G= (n.-49+27864G=) c.1019G= (p.Arg340=) | |
| 22 | g.42692933C>G | CA411810022 | A4GALT,CYB5R3 | c.-49+27864G>C (n.-49+27864G>C) c.1019G>C (p.Arg340Pro) | |
| 22 | g.42692933C>T | CA10270159 | A4GALT,CYB5R3 | c.-49+27864G>A (n.-49+27864G>A) c.1019G>A (p.Arg340His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>A | CA10270160 | A4GALT,CYB5R3 | c.-49+27863C>T (n.-49+27863C>T) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>C | CA411810024 | A4GALT,CYB5R3 | c.-49+27863C>G (n.-49+27863C>G) c.1018C>G (p.Arg340Gly) | gnomAD v4 |
| 22 | g.42692934G= | CA2406870033 | A4GALT,CYB5R3 | c.-49+27863C= (n.-49+27863C=) c.1018C= (p.Arg340=) | |
| 22 | g.42692934G>T | CA411810023 | A4GALT,CYB5R3 | c.-49+27863C>A (n.-49+27863C>A) c.1018C>A (p.Arg340Ser) | gnomAD v4 |
| 22 | g.42692935G>A | CA515070467 | A4GALT,CYB5R3 | c.-49+27862C>T (n.-49+27862C>T) c.1017C>T (p.Ala339=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692935G>C | CA515070468 | A4GALT,CYB5R3 | c.-49+27862C>G (n.-49+27862C>G) c.1017C>G (p.Ala339=) | |
| 22 | g.42692935G= | CA2406870034 | A4GALT,CYB5R3 | c.-49+27862C= (n.-49+27862C=) c.1017C= (p.Ala339=) | |
| 22 | g.42692935G>T | CA515070469 | A4GALT,CYB5R3 | c.-49+27862C>A (n.-49+27862C>A) c.1017C>A (p.Ala339=) | |
| 22 | g.42692936G>A | CA411810025 | A4GALT,CYB5R3 | c.-49+27861C>T (n.-49+27861C>T) c.1016C>T (p.Ala339Val) | gnomAD v4 COSMIC |
| 22 | g.42692936G>C | CA411810026 | A4GALT,CYB5R3 | c.-49+27861C>G (n.-49+27861C>G) c.1016C>G (p.Ala339Gly) | |
| 22 | g.42692936G>T | CA411810027 | A4GALT,CYB5R3 | c.-49+27861C>A (n.-49+27861C>A) c.1016C>A (p.Ala339Asp) | gnomAD v4 |
| 22 | g.42692937C>A | CA411810028 | A4GALT,CYB5R3 | c.-49+27860G>T (n.-49+27860G>T) c.1015G>T (p.Ala339Ser) | gnomAD v4 COSMIC |
| 22 | g.42692937C= | CA2406870035 | A4GALT,CYB5R3 | c.-49+27860G= (n.-49+27860G=) c.1015G= (p.Ala339=) | |
| 22 | g.42692937C>G | CA411810029 | A4GALT,CYB5R3 | c.-49+27860G>C (n.-49+27860G>C) c.1015G>C (p.Ala339Pro) | |
| 22 | g.42692937C>T | CA411810030 | A4GALT,CYB5R3 | c.-49+27860G>A (n.-49+27860G>A) c.1015G>A (p.Ala339Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692938A>C | CA411810031 | A4GALT,CYB5R3 | c.-49+27859T>G (n.-49+27859T>G) c.1014T>G (p.His338Gln) | |
| 22 | g.42692938A>G | CA515070470 | A4GALT,CYB5R3 | c.-49+27859T>C (n.-49+27859T>C) c.1014T>C (p.His338=) | |
| 22 | g.42692938A>T | CA411810032 | A4GALT,CYB5R3 | c.-49+27859T>A (n.-49+27859T>A) c.1014T>A (p.His338Gln) | |
| 22 | g.42692939T>A | CA411810033 | A4GALT,CYB5R3 | c.-49+27858A>T (n.-49+27858A>T) c.1013A>T (p.His338Leu) | |
| 22 | g.42692939T>C | CA411810034 | A4GALT,CYB5R3 | c.-49+27858A>G (n.-49+27858A>G) c.1013A>G (p.His338Arg) | dbSNP |
| 22 | g.42692939T>G | CA411810035 | A4GALT,CYB5R3 | c.-49+27858A>C (n.-49+27858A>C) c.1013A>C (p.His338Pro) | gnomAD v4 |
| 22 | g.42692939T= | CA2406870036 | A4GALT,CYB5R3 | c.-49+27858A= (n.-49+27858A=) c.1013A= (p.His338=) | |
| 22 | g.42692940G>A | CA10270161 | A4GALT,CYB5R3 | c.-49+27857C>T (n.-49+27857C>T) c.1012C>T (p.His338Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692940G>C | CA411810036 | A4GALT,CYB5R3 | c.-49+27857C>G (n.-49+27857C>G) c.1012C>G (p.His338Asp) | |
| 22 | g.42692940G= | CA2406870037 | A4GALT,CYB5R3 | c.-49+27857C= (n.-49+27857C=) c.1012C= (p.His338=) | |
| 22 | g.42692940G>T | CA411810037 | A4GALT,CYB5R3 | c.-49+27857C>A (n.-49+27857C>A) c.1012C>A (p.His338Asn) | gnomAD v4 |
| 22 | g.42692941C>A | CA10270162 | A4GALT,CYB5R3 | c.-49+27856G>T (n.-49+27856G>T) c.1011G>T (p.Leu337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692941C= | CA2406870038 | A4GALT,CYB5R3 | c.-49+27856G= (n.-49+27856G=) c.1011G= (p.Leu337=) | |
| 22 | g.42692941C>G | CA515070471 | A4GALT,CYB5R3 | c.-49+27856G>C (n.-49+27856G>C) c.1011G>C (p.Leu337=) | dbSNP |
| 22 | g.42692941C>T | CA515070472 | A4GALT,CYB5R3 | c.-49+27856G>A (n.-49+27856G>A) c.1011G>A (p.Leu337=) | gnomAD v4 |
| 22 | g.42692942A>C | CA411810038 | A4GALT,CYB5R3 | c.-49+27855T>G (n.-49+27855T>G) c.1010T>G (p.Leu337Arg) | |
| 22 | g.42692942A>G | CA411810039 | A4GALT,CYB5R3 | c.-49+27855T>C (n.-49+27855T>C) c.1010T>C (p.Leu337Pro) | |
| 22 | g.42692942A>T | CA411810040 | A4GALT,CYB5R3 | c.-49+27855T>A (n.-49+27855T>A) c.1010T>A (p.Leu337Gln) | |
| 22 | g.42692943G>A | CA515070473 | A4GALT,CYB5R3 | c.-49+27854C>T (n.-49+27854C>T) c.1009C>T (p.Leu337=) | |
| 22 | g.42692943G>C | CA411810041 | A4GALT,CYB5R3 | c.-49+27854C>G (n.-49+27854C>G) c.1009C>G (p.Leu337Val) | |
| 22 | g.42692943G>T | CA411810042 | A4GALT,CYB5R3 | c.-49+27854C>A (n.-49+27854C>A) c.1009C>A (p.Leu337Met) | gnomAD v4 |
| 22 | g.42692944C>A | CA411810043 | A4GALT,CYB5R3 | c.-49+27853G>T (n.-49+27853G>T) c.1008G>T (p.Gln336His) | |
| 22 | g.42692944C= | CA2406870039 | A4GALT,CYB5R3 | c.-49+27853G= (n.-49+27853G=) c.1008G= (p.Gln336=) | |
| 22 | g.42692944C>G | CA411810044 | A4GALT,CYB5R3 | c.-49+27853G>C (n.-49+27853G>C) c.1008G>C (p.Gln336His) | |
| 22 | g.42692944C>T | CA515070474 | A4GALT,CYB5R3 | c.-49+27853G>A (n.-49+27853G>A) c.1008G>A (p.Gln336=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692945T>A | CA411810045 | A4GALT,CYB5R3 | c.-49+27852A>T (n.-49+27852A>T) c.1007A>T (p.Gln336Leu) | |
| 22 | g.42692945T>C | CA411810046 | A4GALT,CYB5R3 | c.-49+27852A>G (n.-49+27852A>G) c.1007A>G (p.Gln336Arg) | |
| 22 | g.42692945T>G | CA411810047 | A4GALT,CYB5R3 | c.-49+27852A>C (n.-49+27852A>C) c.1007A>C (p.Gln336Pro) | |
| 22 | g.42692946G>A | CA411810049 | A4GALT,CYB5R3 | c.-49+27851C>T (n.-49+27851C>T) c.1006C>T (p.Gln336Ter) | |
| 22 | g.42692946G>C | CA411810050 | A4GALT,CYB5R3 | c.-49+27851C>G (n.-49+27851C>G) c.1006C>G (p.Gln336Glu) | |
| 22 | g.42692946G>T | CA411810048 | A4GALT,CYB5R3 | c.-49+27851C>A (n.-49+27851C>A) c.1006C>A (p.Gln336Lys) | |
| 22 | g.42692948del | CA2657079098 | A4GALT,CYB5R3 | c.-49+27851del (n.-49+27851del) c.1006del (p.Gln336SerfsTer14) | gnomAD v4 |
| 22 | g.42692947G>A | CA515070477 | A4GALT,CYB5R3 | c.-49+27850C>T (n.-49+27850C>T) c.1005C>T (p.Ala335=) | |
| 22 | g.42692947G>C | CA515070476 | A4GALT,CYB5R3 | c.-49+27850C>G (n.-49+27850C>G) c.1005C>G (p.Ala335=) | |
| 22 | g.42692947G>T | CA515070475 | A4GALT,CYB5R3 | c.-49+27850C>A (n.-49+27850C>A) c.1005C>A (p.Ala335=) | |
| 22 | g.42692948G>A | CA411810051 | A4GALT,CYB5R3 | c.-49+27849C>T (n.-49+27849C>T) c.1004C>T (p.Ala335Val) | gnomAD v4 |
| 22 | g.42692948G>C | CA411810052 | A4GALT,CYB5R3 | c.-49+27849C>G (n.-49+27849C>G) c.1004C>G (p.Ala335Gly) | |
| 22 | g.42692948G>T | CA411810053 | A4GALT,CYB5R3 | c.-49+27849C>A (n.-49+27849C>A) c.1004C>A (p.Ala335Asp) | gnomAD v4 COSMIC |
| 22 | g.42692949C>A | CA411810054 | A4GALT,CYB5R3 | c.-49+27848G>T (n.-49+27848G>T) c.1003G>T (p.Ala335Ser) | |
| 22 | g.42692949C>G | CA411810055 | A4GALT,CYB5R3 | c.-49+27848G>C (n.-49+27848G>C) c.1003G>C (p.Ala335Pro) | |
| 22 | g.42692949C>T | CA411810056 | A4GALT,CYB5R3 | c.-49+27848G>A (n.-49+27848G>A) c.1003G>A (p.Ala335Thr) | gnomAD v4 |
| 22 | g.42692950C>A | CA515070478 | A4GALT,CYB5R3 | c.-49+27847G>T (n.-49+27847G>T) c.1002G>T (p.Leu334=) | |
| 22 | g.42692950C= | CA2406870040 | A4GALT,CYB5R3 | c.-49+27847G= (n.-49+27847G=) c.1002G= (p.Leu334=) | |
| 22 | g.42692950C>G | CA515070480 | A4GALT,CYB5R3 | c.-49+27847G>C (n.-49+27847G>C) c.1002G>C (p.Leu334=) | gnomAD v4 |
| 22 | g.42692950C>T | CA515070479 | A4GALT,CYB5R3 | c.-49+27847G>A (n.-49+27847G>A) c.1002G>A (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692951A>C | CA411810057 | A4GALT,CYB5R3 | c.-49+27846T>G (n.-49+27846T>G) c.1001T>G (p.Leu334Arg) | |
| 22 | g.42692951A>G | CA411810058 | A4GALT,CYB5R3 | c.-49+27846T>C (n.-49+27846T>C) c.1001T>C (p.Leu334Pro) | |
| 22 | g.42692951A>T | CA411810059 | A4GALT,CYB5R3 | c.-49+27846T>A (n.-49+27846T>A) c.1001T>A (p.Leu334Gln) | |
| 22 | g.42692952G>A | CA10270163 | A4GALT,CYB5R3 | c.-49+27845C>T (n.-49+27845C>T) c.1000C>T (p.Leu334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692952G>C | CA411810060 | A4GALT,CYB5R3 | c.-49+27845C>G (n.-49+27845C>G) c.1000C>G (p.Leu334Val) | |
| 22 | g.42692952G= | CA2406870041 | A4GALT,CYB5R3 | c.-49+27845C= (n.-49+27845C=) c.1000C= (p.Leu334=) | |
| 22 | g.42692952G>T | CA411810061 | A4GALT,CYB5R3 | c.-49+27845C>A (n.-49+27845C>A) c.1000C>A (p.Leu334Met) | gnomAD v4 |
| 22 | g.42692953C>A | CA515070481 | A4GALT,CYB5R3 | c.-49+27844G>T (n.-49+27844G>T) c.999G>T (p.Leu333=) | |
| 22 | g.42692953C>G | CA515070482 | A4GALT,CYB5R3 | c.-49+27844G>C (n.-49+27844G>C) c.999G>C (p.Leu333=) | |
| 22 | g.42692953C>T | CA515070483 | A4GALT,CYB5R3 | c.-49+27844G>A (n.-49+27844G>A) c.999G>A (p.Leu333=) | gnomAD v4 |
| 22 | g.42692954A= | CA2406870043 | A4GALT,CYB5R3 | c.-49+27843T= (n.-49+27843T=) c.998T= (p.Leu333=) | |
| 22 | g.42692954A>C | CA411810063 | A4GALT,CYB5R3 | c.-49+27843T>G (n.-49+27843T>G) c.998T>G (p.Leu333Arg) | |
| 22 | g.42692954A>G | CA411810064 | A4GALT,CYB5R3 | c.-49+27843T>C (n.-49+27843T>C) c.998T>C (p.Leu333Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692954A>T | CA411810062 | A4GALT,CYB5R3 | c.-49+27843T>A (n.-49+27843T>A) c.998T>A (p.Leu333Gln) | |
| 22 | g.42692954_42692980delinsAGTGCCCTGGACGTGGCCTCGAACCGC | CA2406870042 | A4GALT,CYB5R3 | c.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT (n.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT) c.972_998delinsGCGGTTCGAGGCCACGTCCAGGGCACT (p.Thr324=) | |
| 22 | g.42692955G>A | CA515070484 | A4GALT,CYB5R3 | c.-49+27842C>T (n.-49+27842C>T) c.997C>T (p.Leu333=) | |
| 22 | g.42692955G>C | CA411810065 | A4GALT,CYB5R3 | c.-49+27842C>G (n.-49+27842C>G) c.997C>G (p.Leu333Val) | |
| 22 | g.42692955G>T | CA411810066 | A4GALT,CYB5R3 | c.-49+27842C>A (n.-49+27842C>A) c.997C>A (p.Leu333Met) | |
| 22 | g.42692964_42692989del | CA10270164 | A4GALT,CYB5R3 | c.-49+27817_-49+27842del (n.-49+27817_-49+27842del) c.972_997del (p.Arg325AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692956T>A | CA515070487 | A4GALT,CYB5R3 | c.-49+27841A>T (n.-49+27841A>T) c.996A>T (p.Ala332=) | |
| 22 | g.42692956T>C | CA515070485 | A4GALT,CYB5R3 | c.-49+27841A>G (n.-49+27841A>G) c.996A>G (p.Ala332=) | |
| 22 | g.42692956T>G | CA515070486 | A4GALT,CYB5R3 | c.-49+27841A>C (n.-49+27841A>C) c.996A>C (p.Ala332=) | |
| 22 | g.42692957G>A | CA10270165 | A4GALT,CYB5R3 | c.-49+27840C>T (n.-49+27840C>T) c.995C>T (p.Ala332Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692957G>C | CA411810067 | A4GALT,CYB5R3 | c.-49+27840C>G (n.-49+27840C>G) c.995C>G (p.Ala332Gly) | |
| 22 | g.42692957G= | CA2406870044 | A4GALT,CYB5R3 | c.-49+27840C= (n.-49+27840C=) c.995C= (p.Ala332=) | |
| 22 | g.42692957G>T | CA411810068 | A4GALT,CYB5R3 | c.-49+27840C>A (n.-49+27840C>A) c.995C>A (p.Ala332Glu) | |
| 22 | g.42692958C>A | CA411810069 | A4GALT,CYB5R3 | c.-49+27839G>T (n.-49+27839G>T) c.994G>T (p.Ala332Ser) | gnomAD v4 |
| 22 | g.42692958C>G | CA411810071 | A4GALT,CYB5R3 | c.-49+27839G>C (n.-49+27839G>C) c.994G>C (p.Ala332Pro) | |
| 22 | g.42692958C>T | CA411810070 | A4GALT,CYB5R3 | c.-49+27839G>A (n.-49+27839G>A) c.994G>A (p.Ala332Thr) | |
| 22 | g.42692959C>A | CA411810072 | A4GALT,CYB5R3 | c.-49+27838G>T (n.-49+27838G>T) c.993G>T (p.Arg331Ser) | |
| 22 | g.42692959C>G | CA411810073 | A4GALT,CYB5R3 | c.-49+27838G>C (n.-49+27838G>C) c.993G>C (p.Arg331Ser) | |
| 22 | g.42692959C>T | CA515070488 | A4GALT,CYB5R3 | c.-49+27838G>A (n.-49+27838G>A) c.993G>A (p.Arg331=) | COSMIC |
| 22 | g.42692960C>A | CA411810074 | A4GALT,CYB5R3 | c.-49+27837G>T (n.-49+27837G>T) c.992G>T (p.Arg331Met) | |
| 22 | g.42692960C>G | CA411810075 | A4GALT,CYB5R3 | c.-49+27837G>C (n.-49+27837G>C) c.992G>C (p.Arg331Thr) | |
| 22 | g.42692960C>T | CA411810076 | A4GALT,CYB5R3 | c.-49+27837G>A (n.-49+27837G>A) c.992G>A (p.Arg331Lys) | |
| 22 | g.42692961T>A | CA411810077 | A4GALT,CYB5R3 | c.-49+27836A>T (n.-49+27836A>T) c.991A>T (p.Arg331Trp) | |
| 22 | g.42692961T>C | CA411810078 | A4GALT,CYB5R3 | c.-49+27836A>G (n.-49+27836A>G) c.991A>G (p.Arg331Gly) | gnomAD v4 |
| 22 | g.42692961T>G | CA515070489 | A4GALT,CYB5R3 | c.-49+27836A>C (n.-49+27836A>C) c.991A>C (p.Arg331=) | gnomAD v4 |
| 22 | g.42692962G>A | CA515070490 | A4GALT,CYB5R3 | c.-49+27835C>T (n.-49+27835C>T) c.990C>T (p.Ser330=) | |
| 22 | g.42692962G>C | CA515070491 | A4GALT,CYB5R3 | c.-49+27835C>G (n.-49+27835C>G) c.990C>G (p.Ser330=) | |
| 22 | g.42692962G>T | CA515070492 | A4GALT,CYB5R3 | c.-49+27835C>A (n.-49+27835C>A) c.990C>A (p.Ser330=) | gnomAD v4 COSMIC |
| 22 | g.42692963G>A | CA411810079 | A4GALT,CYB5R3 | c.-49+27834C>T (n.-49+27834C>T) c.989C>T (p.Ser330Phe) | |
| 22 | g.42692963G>C | CA411810080 | A4GALT,CYB5R3 | c.-49+27834C>G (n.-49+27834C>G) c.989C>G (p.Ser330Cys) | |
| 22 | g.42692963G>T | CA411810081 | A4GALT,CYB5R3 | c.-49+27834C>A (n.-49+27834C>A) c.989C>A (p.Ser330Tyr) | gnomAD v4 |
| 22 | g.42692964A>C | CA411810082 | A4GALT,CYB5R3 | c.-49+27833T>G (n.-49+27833T>G) c.988T>G (p.Ser330Ala) | |
| 22 | g.42692964A>G | CA411810083 | A4GALT,CYB5R3 | c.-49+27833T>C (n.-49+27833T>C) c.988T>C (p.Ser330Pro) | |
| 22 | g.42692964A>T | CA411810084 | A4GALT,CYB5R3 | c.-49+27833T>A (n.-49+27833T>A) c.988T>A (p.Ser330Thr) |