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 |
|---|---|---|---|---|---|
| 15 | g.71813466_71813483delinsTCCTCTGCTGGCACCGCC | CA2186514593 | NR2E3 | c.825_842delinsTCCTCTGCTGGCACCGCC (p.Cys275=) c.561_578delinsTCCTCTGCTGGCACCGCC (p.Cys187=) | |
| 15 | g.71813468_71813484del | CA715430921 | NR2E3 | c.827_843del (p.Pro276ArgfsTer?) c.563_579del (p.Pro188ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813476G>A | CA393036716 | NR2E3 | c.835G>A (p.Ala279Thr) c.571G>A (p.Ala191Thr) | gnomAD v4 |
| 15 | g.71813476G>C | CA393036712 | NR2E3 | c.835G>C (p.Ala279Pro) c.571G>C (p.Ala191Pro) | |
| 15 | g.71813476G>T | CA393036719 | NR2E3 | c.835G>T (p.Ala279Ser) c.571G>T (p.Ala191Ser) | |
| 15 | g.71813477C>A | CA393036725 | NR2E3 | c.836C>A (p.Ala279Glu) c.572C>A (p.Ala191Glu) | |
| 15 | g.71813477C= | CA2186514598 | NR2E3 | c.836C= (p.Ala279=) c.572C= (p.Ala191=) | |
| 15 | g.71813477C>G | CA393036728 | NR2E3 | c.836C>G (p.Ala279Gly) c.572C>G (p.Ala191Gly) | |
| 15 | g.71813477C>T | CA393036732 | NR2E3 | c.836C>T (p.Ala279Val) c.572C>T (p.Ala191Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813478A= | CA2186514599 | NR2E3 | c.837A= (p.Ala279=) c.573A= (p.Ala191=) | |
| 15 | g.71813478A>C | CA491104717 | NR2E3 | c.837A>C (p.Ala279=) c.573A>C (p.Ala191=) | dbSNP |
| 15 | g.71813478A>G | CA491104720 | NR2E3 | c.837A>G (p.Ala279=) c.573A>G (p.Ala191=) | |
| 15 | g.71813478A>T | CA491104721 | NR2E3 | c.837A>T (p.Ala279=) c.573A>T (p.Ala191=) | |
| 15 | g.71813479C>A | CA7640407 | NR2E3 | c.838C>A (p.Pro280Thr) c.574C>A (p.Pro192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813479C= | CA2186514600 | NR2E3 | c.838C= (p.Pro280=) c.574C= (p.Pro192=) | |
| 15 | g.71813479C>G | CA10636493 | NR2E3 | c.838C>G (p.Pro280Ala) c.574C>G (p.Pro192Ala) | ClinVar dbSNP |
| 15 | g.71813479C>T | CA393036736 | NR2E3 | c.838C>T (p.Pro280Ser) c.574C>T (p.Pro192Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813480del | CA2580089938 | NR2E3 | c.839del (p.Pro280ArgfsTer?) c.575del (p.Pro192ArgfsTer?) | ClinVar |
| 15 | g.71813480C>A | CA393036739 | NR2E3 | c.839C>A (p.Pro280Gln) c.575C>A (p.Pro192Gln) | |
| 15 | g.71813480C= | CA2186514601 | NR2E3 | c.839C= (p.Pro280=) c.575C= (p.Pro192=) | |
| 15 | g.71813480C>G | CA393036743 | NR2E3 | c.839C>G (p.Pro280Arg) c.575C>G (p.Pro192Arg) | gnomAD v4 |
| 15 | g.71813480C>T | CA7640408 | NR2E3 | c.839C>T (p.Pro280Leu) c.575C>T (p.Pro192Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.71813481G>A | CA491104727 | NR2E3 | c.840G>A (p.Pro280=) c.576G>A (p.Pro192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813481G>C | CA491104728 | NR2E3 | c.840G>C (p.Pro280=) c.576G>C (p.Pro192=) | |
| 15 | g.71813481G= | CA2186514602 | NR2E3 | c.840G= (p.Pro280=) c.576G= (p.Pro192=) | |
| 15 | g.71813481G>T | CA491104729 | NR2E3 | c.840G>T (p.Pro280=) c.576G>T (p.Pro192=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813482C>A | CA393036750 | NR2E3 | c.841C>A (p.Pro281Thr) c.577C>A (p.Pro193Thr) | |
| 15 | g.71813482C>G | CA393036754 | NR2E3 | c.841C>G (p.Pro281Ala) c.577C>G (p.Pro193Ala) | |
| 15 | g.71813482C>T | CA393036768 | NR2E3 | c.841C>T (p.Pro281Ser) c.577C>T (p.Pro193Ser) | gnomAD v4 |
| 15 | g.71813483C>A | CA393036771 | NR2E3 | c.842C>A (p.Pro281His) c.578C>A (p.Pro193His) | |
| 15 | g.71813483C>G | CA393036780 | NR2E3 | c.842C>G (p.Pro281Arg) c.578C>G (p.Pro193Arg) | |
| 15 | g.71813483C>T | CA393036775 | NR2E3 | c.842C>T (p.Pro281Leu) c.578C>T (p.Pro193Leu) | gnomAD v4 |
| 15 | g.71813484C>A | CA491104739 | NR2E3 | c.843C>A (p.Pro281=) c.579C>A (p.Pro193=) | gnomAD v4 |
| 15 | g.71813484C= | CA2186514603 | NR2E3 | c.843C= (p.Pro281=) c.579C= (p.Pro193=) | |
| 15 | g.71813484C>G | CA491104743 | NR2E3 | c.843C>G (p.Pro281=) c.579C>G (p.Pro193=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813484C>T | CA7640409 | NR2E3 | c.843C>T (p.Pro281=) c.579C>T (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813485G>A | CA7640410 | NR2E3 | c.844G>A (p.Glu282Lys) c.580G>A (p.Glu194Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813485G>C | CA393036786 | NR2E3 | c.844G>C (p.Glu282Gln) c.580G>C (p.Glu194Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813485G= | CA2186514604 | NR2E3 | c.844G= (p.Glu282=) c.580G= (p.Glu194=) | |
| 15 | g.71813485G>T | CA393036789 | NR2E3 | c.844G>T (p.Glu282Ter) c.580G>T (p.Glu194Ter) | ClinVar |
| 15 | g.71813486A>C | CA393036795 | NR2E3 | c.845A>C (p.Glu282Ala) c.581A>C (p.Glu194Ala) | |
| 15 | g.71813486A>G | CA393036796 | NR2E3 | c.845A>G (p.Glu282Gly) c.581A>G (p.Glu194Gly) | |
| 15 | g.71813486A>T | CA393036799 | NR2E3 | c.845A>T (p.Glu282Val) c.581A>T (p.Glu194Val) | |
| 15 | g.71813487G>A | CA7640411 | NR2E3 | c.846G>A (p.Glu282=) c.582G>A (p.Glu194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813487G>C | CA393036807 | NR2E3 | c.846G>C (p.Glu282Asp) c.582G>C (p.Glu194Asp) | |
| 15 | g.71813487G= | CA2186514605 | NR2E3 | c.846G= (p.Glu282=) c.582G= (p.Glu194=) | |
| 15 | g.71813487G>T | CA393036813 | NR2E3 | c.846G>T (p.Glu282Asp) c.582G>T (p.Glu194Asp) | |
| 15 | g.71813488G>A | CA393036824 | NR2E3 | c.847G>A (p.Ala283Thr) c.583G>A (p.Ala195Thr) | gnomAD v4 |
| 15 | g.71813488G>C | CA393036827 | NR2E3 | c.847G>C (p.Ala283Pro) c.583G>C (p.Ala195Pro) | |
| 15 | g.71813488G>T | CA393036815 | NR2E3 | c.847G>T (p.Ala283Ser) c.583G>T (p.Ala195Ser) | gnomAD v4 |
| 15 | g.71813489C>A | CA393036830 | NR2E3 | c.848C>A (p.Ala283Asp) c.584C>A (p.Ala195Asp) | |
| 15 | g.71813489C= | CA2186514606 | NR2E3 | c.848C= (p.Ala283=) c.584C= (p.Ala195=) | |
| 15 | g.71813489C>G | CA393036833 | NR2E3 | c.848C>G (p.Ala283Gly) c.584C>G (p.Ala195Gly) | |
| 15 | g.71813489C>T | CA393036837 | NR2E3 | c.848C>T (p.Ala283Val) c.584C>T (p.Ala195Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813490C>A | CA491104745 | NR2E3 | c.849C>A (p.Ala283=) c.585C>A (p.Ala195=) | |
| 15 | g.71813490C= | CA2186514607 | NR2E3 | c.849C= (p.Ala283=) c.585C= (p.Ala195=) | |
| 15 | g.71813490C>G | CA491104746 | NR2E3 | c.849C>G (p.Ala283=) c.585C>G (p.Ala195=) | |
| 15 | g.71813490C>T | CA491104747 | NR2E3 | c.849C>T (p.Ala283=) c.585C>T (p.Ala195=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813491T>A | CA393036841 | NR2E3 | c.850T>A (p.Ser284Thr) c.586T>A (p.Ser196Thr) | |
| 15 | g.71813491T>C | CA393036847 | NR2E3 | c.850T>C (p.Ser284Pro) c.586T>C (p.Ser196Pro) | |
| 15 | g.71813491T>G | CA393036850 | NR2E3 | c.850T>G (p.Ser284Ala) c.586T>G (p.Ser196Ala) | |
| 15 | g.71813492C>A | CA393036854 | NR2E3 | c.851C>A (p.Ser284Tyr) c.587C>A (p.Ser196Tyr) | |
| 15 | g.71813492C>G | CA393036857 | NR2E3 | c.851C>G (p.Ser284Cys) c.587C>G (p.Ser196Cys) | |
| 15 | g.71813492C>T | CA393036861 | NR2E3 | c.851C>T (p.Ser284Phe) c.587C>T (p.Ser196Phe) | |
| 15 | g.71813493T>A | CA491104751 | NR2E3 | c.852T>A (p.Ser284=) c.588T>A (p.Ser196=) | |
| 15 | g.71813493T>C | CA491104752 | NR2E3 | c.852T>C (p.Ser284=) c.588T>C (p.Ser196=) | gnomAD v4 |
| 15 | g.71813493T>G | CA491104753 | NR2E3 | c.852T>G (p.Ser284=) c.588T>G (p.Ser196=) | |
| 15 | g.71813494G>A | CA393036865 | NR2E3 | c.853G>A (p.Ala285Thr) c.589G>A (p.Ala197Thr) | |
| 15 | g.71813494G>C | CA393036869 | NR2E3 | c.853G>C (p.Ala285Pro) c.589G>C (p.Ala197Pro) | gnomAD v4 |
| 15 | g.71813494G>T | CA393036873 | NR2E3 | c.853G>T (p.Ala285Ser) c.589G>T (p.Ala197Ser) | |
| 15 | g.71813495C>A | CA393036891 | NR2E3 | c.854C>A (p.Ala285Asp) c.590C>A (p.Ala197Asp) | |
| 15 | g.71813495C>G | CA393036894 | NR2E3 | c.854C>G (p.Ala285Gly) c.590C>G (p.Ala197Gly) | |
| 15 | g.71813495C>T | CA393036887 | NR2E3 | c.854C>T (p.Ala285Val) c.590C>T (p.Ala197Val) | |
| 15 | g.71813496T>A | CA491104759 | NR2E3 | c.855T>A (p.Ala285=) c.591T>A (p.Ala197=) | gnomAD v4 |
| 15 | g.71813496T>C | CA491104761 | NR2E3 | c.855T>C (p.Ala285=) c.591T>C (p.Ala197=) | |
| 15 | g.71813496T>G | CA491104762 | NR2E3 | c.855T>G (p.Ala285=) c.591T>G (p.Ala197=) | |
| 15 | g.71813497G>A | CA393036898 | NR2E3 | c.856G>A (p.Ala286Thr) c.592G>A (p.Ala198Thr) | |
| 15 | g.71813497G>C | CA393036901 | NR2E3 | c.856G>C (p.Ala286Pro) c.592G>C (p.Ala198Pro) | |
| 15 | g.71813497G>T | CA393036906 | NR2E3 | c.856G>T (p.Ala286Ser) c.592G>T (p.Ala198Ser) | COSMIC |
| 15 | g.71813498C>A | CA393036911 | NR2E3 | c.857C>A (p.Ala286Asp) c.593C>A (p.Ala198Asp) | |
| 15 | g.71813498C>G | CA393036915 | NR2E3 | c.857C>G (p.Ala286Gly) c.593C>G (p.Ala198Gly) | COSMIC |
| 15 | g.71813498C>T | CA393036919 | NR2E3 | c.857C>T (p.Ala286Val) c.593C>T (p.Ala198Val) | |
| 15 | g.71813499C>A | CA491104765 | NR2E3 | c.858C>A (p.Ala286=) c.594C>A (p.Ala198=) | |
| 15 | g.71813499C= | CA2186514608 | NR2E3 | c.858C= (p.Ala286=) c.594C= (p.Ala198=) | |
| 15 | g.71813499C>G | CA491104766 | NR2E3 | c.858C>G (p.Ala286=) c.594C>G (p.Ala198=) | |
| 15 | g.71813499C>T | CA7640412 | NR2E3 | c.858C>T (p.Ala286=) c.594C>T (p.Ala198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813500G>A | CA7640413 | NR2E3 | c.859G>A (p.Gly287Ser) c.595G>A (p.Gly199Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813500G>C | CA393036933 | NR2E3 | c.859G>C (p.Gly287Arg) c.595G>C (p.Gly199Arg) | |
| 15 | g.71813500G= | CA2186514609 | NR2E3 | c.859G= (p.Gly287=) c.595G= (p.Gly199=) | |
| 15 | g.71813500G>T | CA393036938 | NR2E3 | c.859G>T (p.Gly287Cys) c.595G>T (p.Gly199Cys) | |
| 15 | g.71813501G>A | CA7640414 | NR2E3 | c.860G>A (p.Gly287Asp) c.596G>A (p.Gly199Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813501G>C | CA393036947 | NR2E3 | c.860G>C (p.Gly287Ala) c.596G>C (p.Gly199Ala) | |
| 15 | g.71813501G= | CA2186514610 | NR2E3 | c.860G= (p.Gly287=) c.596G= (p.Gly199=) | |
| 15 | g.71813501G>T | CA7640415 | NR2E3 | c.860G>T (p.Gly287Val) c.596G>T (p.Gly199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813502T>A | CA491104774 | NR2E3 | c.861T>A (p.Gly287=) c.597T>A (p.Gly199=) | |
| 15 | g.71813502T>C | CA7640416 | NR2E3 | c.861T>C (p.Gly287=) c.597T>C (p.Gly199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813502T>G | CA491104775 | NR2E3 | c.861T>G (p.Gly287=) c.597T>G (p.Gly199=) | |
| 15 | g.71813502T= | CA2186514611 | NR2E3 | c.861T= (p.Gly287=) c.597T= (p.Gly199=) | |
| 15 | g.71813503G>A | CA393036964 | NR2E3 | c.862G>A (p.Gly288Ser) c.598G>A (p.Gly200Ser) | |
| 15 | g.71813503G>C | CA393036974 | NR2E3 | c.862G>C (p.Gly288Arg) c.598G>C (p.Gly200Arg) | |
| 15 | g.71813503G>T | CA393036961 | NR2E3 | c.862G>T (p.Gly288Cys) c.598G>T (p.Gly200Cys) | |
| 15 | g.71813504G>A | CA393036983 | NR2E3 | c.863G>A (p.Gly288Asp) c.599G>A (p.Gly200Asp) | gnomAD v4 |
| 15 | g.71813504G>C | CA393036977 | NR2E3 | c.863G>C (p.Gly288Ala) c.599G>C (p.Gly200Ala) | |
| 15 | g.71813504G>T | CA393036980 | NR2E3 | c.863G>T (p.Gly288Val) c.599G>T (p.Gly200Val) | |
| 15 | g.71813505T>A | CA7640417 | NR2E3 | c.864T>A (p.Gly288=) c.600T>A (p.Gly200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813505T>C | CA491104783 | NR2E3 | c.864T>C (p.Gly288=) c.600T>C (p.Gly200=) | |
| 15 | g.71813505T>G | CA491104784 | NR2E3 | c.864T>G (p.Gly288=) c.600T>G (p.Gly200=) | |
| 15 | g.71813505T= | CA2186514612 | NR2E3 | c.864T= (p.Gly288=) c.600T= (p.Gly200=) | |
| 15 | g.71813505_71813516delinsTGCCCAGGGCCG | CA2186514613 | NR2E3 | c.864_875delinsTGCCCAGGGCCG (p.Gly288=) c.600_611delinsTGCCCAGGGCCG (p.Gly200=) | |
| 15 | g.71813506G>A | CA393036994 | NR2E3 | c.865G>A (p.Ala289Thr) c.601G>A (p.Ala201Thr) | gnomAD v4 |
| 15 | g.71813506G>C | CA272575639 | NR2E3 | c.865G>C (p.Ala289Pro) c.601G>C (p.Ala201Pro) | dbSNP |
| 15 | g.71813506G= | CA2186514614 | NR2E3 | c.865G= (p.Ala289=) c.601G= (p.Ala201=) | |
| 15 | g.71813506G>T | CA393036999 | NR2E3 | c.865G>T (p.Ala289Ser) c.601G>T (p.Ala201Ser) | |
| 15 | g.71813508_71813518del | CA1139664057 | NR2E3 | c.867_877del (p.Gln290HisfsTer?) c.603_613del (p.Gln202HisfsTer?) | ClinVar dbSNP |
| 15 | g.71813507C>A | CA393037007 | NR2E3 | c.866C>A (p.Ala289Asp) c.602C>A (p.Ala201Asp) | |
| 15 | g.71813507C>G | CA393037010 | NR2E3 | c.866C>G (p.Ala289Gly) c.602C>G (p.Ala201Gly) | |
| 15 | g.71813507C>T | CA393037013 | NR2E3 | c.866C>T (p.Ala289Val) c.602C>T (p.Ala201Val) | |
| 15 | g.71813508C>A | CA491104788 | NR2E3 | c.867C>A (p.Ala289=) c.603C>A (p.Ala201=) | |
| 15 | g.71813508C= | CA2186514615 | NR2E3 | c.867C= (p.Ala289=) c.603C= (p.Ala201=) | |
| 15 | g.71813508C>G | CA491104790 | NR2E3 | c.867C>G (p.Ala289=) c.603C>G (p.Ala201=) | |
| 15 | g.71813508C>T | CA491104792 | NR2E3 | c.867C>T (p.Ala289=) c.603C>T (p.Ala201=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813509C>A | CA393037019 | NR2E3 | c.868C>A (p.Gln290Lys) c.604C>A (p.Gln202Lys) | |
| 15 | g.71813509C>G | CA393037022 | NR2E3 | c.868C>G (p.Gln290Glu) c.604C>G (p.Gln202Glu) | |
| 15 | g.71813509C>T | CA393037026 | NR2E3 | c.868C>T (p.Gln290Ter) c.604C>T (p.Gln202Ter) | |
| 15 | g.71813510A>C | CA393037033 | NR2E3 | c.869A>C (p.Gln290Pro) c.605A>C (p.Gln202Pro) | |
| 15 | g.71813510A>G | CA393037030 | NR2E3 | c.869A>G (p.Gln290Arg) c.605A>G (p.Gln202Arg) | |
| 15 | g.71813510A>T | CA393037028 | NR2E3 | c.869A>T (p.Gln290Leu) c.605A>T (p.Gln202Leu) | |
| 15 | g.71813511G>A | CA491104798 | NR2E3 | c.870G>A (p.Gln290=) c.606G>A (p.Gln202=) | |
| 15 | g.71813511G>C | CA393037037 | NR2E3 | c.870G>C (p.Gln290His) c.606G>C (p.Gln202His) | |
| 15 | g.71813511G>T | CA393037040 | NR2E3 | c.870G>T (p.Gln290His) c.606G>T (p.Gln202His) | |
| 15 | g.71813513del | CA2580089941 | NR2E3 | c.872del (p.Gly291AlafsTer?) c.608del (p.Gly203AlafsTer?) | ClinVar |
| 15 | g.71813512G>A | CA393037043 | NR2E3 | c.871G>A (p.Gly291Ser) c.607G>A (p.Gly203Ser) | |
| 15 | g.71813512G>C | CA393037044 | NR2E3 | c.871G>C (p.Gly291Arg) c.607G>C (p.Gly203Arg) | |
| 15 | g.71813512G>T | CA393037045 | NR2E3 | c.871G>T (p.Gly291Cys) c.607G>T (p.Gly203Cys) | |
| 15 | g.71813513G>A | CA7640418 | NR2E3 | c.872G>A (p.Gly291Asp) c.608G>A (p.Gly203Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813513G>C | CA393037048 | NR2E3 | c.872G>C (p.Gly291Ala) c.608G>C (p.Gly203Ala) | |
| 15 | g.71813513G= | CA2186514616 | NR2E3 | c.872G= (p.Gly291=) c.608G= (p.Gly203=) | |
| 15 | g.71813513G>T | CA393037050 | NR2E3 | c.872G>T (p.Gly291Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
| 15 | g.71813513_71813514delinsGC | CA2186514617 | NR2E3 | c.872_873delinsGC (p.Gly291=) c.608_609delinsGC (p.Gly203=) | |
| 15 | g.71813514_71813516del | CA2629294345 | NR2E3 | c.873_875del (p.Arg292del) c.609_611del (p.Arg204del) | gnomAD v4 |
| 15 | g.71813514C>A | CA491104808 | NR2E3 | c.873C>A (p.Gly291=) c.609C>A (p.Gly203=) | gnomAD v4 |
| 15 | g.71813514C= | CA2186514618 | NR2E3 | c.873C= (p.Gly291=) c.609C= (p.Gly203=) | |
| 15 | g.71813514C>G | CA491104809 | NR2E3 | c.873C>G (p.Gly291=) c.609C>G (p.Gly203=) | |
| 15 | g.71813514C>T | CA491104811 | NR2E3 | c.873C>T (p.Gly291=) c.609C>T (p.Gly203=) | dbSNP |
| 15 | g.71813515del | CA715431049 | NR2E3 | c.874del (p.Arg292GlyfsTer?) c.610del (p.Arg204GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813515C>A | CA491104817 | NR2E3 | c.874C>A (p.Arg292=) c.610C>A (p.Arg204=) | |
| 15 | g.71813515C= | CA2186514619 | NR2E3 | c.874C= (p.Arg292=) c.610C= (p.Arg204=) | |
| 15 | g.71813515C>G | CA393037055 | NR2E3 | c.874C>G (p.Arg292Gly) c.610C>G (p.Arg204Gly) | dbSNP |
| 15 | g.71813515C>T | CA7640419 | NR2E3 | c.874C>T (p.Arg292Trp) c.610C>T (p.Arg204Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813516G>A | CA7640420 | NR2E3 | c.875G>A (p.Arg292Gln) c.611G>A (p.Arg204Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813516G>C | CA393037057 | NR2E3 | c.875G>C (p.Arg292Pro) c.611G>C (p.Arg204Pro) | |
| 15 | g.71813516G= | CA2186514620 | NR2E3 | c.875G= (p.Arg292=) c.611G= (p.Arg204=) | |
| 15 | g.71813516G>T | CA393037058 | NR2E3 | c.875G>T (p.Arg292Leu) c.611G>T (p.Arg204Leu) | |
| 15 | g.71813517G>A | CA491104821 | NR2E3 | c.876G>A (p.Arg292=) c.612G>A (p.Arg204=) | |
| 15 | g.71813517G>C | CA491104823 | NR2E3 | c.876G>C (p.Arg292=) c.612G>C (p.Arg204=) | ClinVar |
| 15 | g.71813517G>T | CA491104824 | NR2E3 | c.876G>T (p.Arg292=) c.612G>T (p.Arg204=) | |
| 15 | g.71813518C>A | CA393037063 | NR2E3 | c.877C>A (p.Leu293Ile) c.613C>A (p.Leu205Ile) | |
| 15 | g.71813518C>G | CA393037066 | NR2E3 | c.877C>G (p.Leu293Val) c.613C>G (p.Leu205Val) | |
| 15 | g.71813518C>T | CA393037061 | NR2E3 | c.877C>T (p.Leu293Phe) c.613C>T (p.Leu205Phe) | |
| 15 | g.71813519T>A | CA393037069 | NR2E3 | c.878T>A (p.Leu293His) c.614T>A (p.Leu205His) | |
| 15 | g.71813519T>C | CA393037071 | NR2E3 | c.878T>C (p.Leu293Pro) c.614T>C (p.Leu205Pro) | |
| 15 | g.71813519T>G | CA393037076 | NR2E3 | c.878T>G (p.Leu293Arg) c.614T>G (p.Leu205Arg) | |
| 15 | g.71813520C>A | CA491104830 | NR2E3 | c.879C>A (p.Leu293=) c.615C>A (p.Leu205=) | |
| 15 | g.71813520C>G | CA491104833 | NR2E3 | c.879C>G (p.Leu293=) c.615C>G (p.Leu205=) | |
| 15 | g.71813520C>T | CA491104835 | NR2E3 | c.879C>T (p.Leu293=) c.615C>T (p.Leu205=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813521A>C | CA393037079 | NR2E3 | c.880A>C (p.Thr294Pro) c.616A>C (p.Thr206Pro) | |
| 15 | g.71813521A>G | CA393037081 | NR2E3 | c.880A>G (p.Thr294Ala) c.616A>G (p.Thr206Ala) | |
| 15 | g.71813521A>T | CA393037087 | NR2E3 | c.880A>T (p.Thr294Ser) c.616A>T (p.Thr206Ser) | |
| 15 | g.71813522C>A | CA393037092 | NR2E3 | c.881C>A (p.Thr294Lys) c.617C>A (p.Thr206Lys) | |
| 15 | g.71813522C= | CA2186514621 | NR2E3 | c.881C= (p.Thr294=) c.617C= (p.Thr206=) | |
| 15 | g.71813522C>G | CA393037095 | NR2E3 | c.881C>G (p.Thr294Arg) c.617C>G (p.Thr206Arg) | |
| 15 | g.71813522C>T | CA7640421 | NR2E3 | c.881C>T (p.Thr294Met) c.617C>T (p.Thr206Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813523G>A | CA7640422 | NR2E3 | c.882G>A (p.Thr294=) c.618G>A (p.Thr206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813523G>C | CA491104844 | NR2E3 | c.882G>C (p.Thr294=) c.618G>C (p.Thr206=) | |
| 15 | g.71813523G= | CA2186514622 | NR2E3 | c.882G= (p.Thr294=) c.618G= (p.Thr206=) | |
| 15 | g.71813523G>T | CA7640423 | NR2E3 | c.882G>T (p.Thr294=) c.618G>T (p.Thr206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813524C>A | CA393037107 | NR2E3 | c.883C>A (p.Leu295Met) c.619C>A (p.Leu207Met) | |
| 15 | g.71813524C= | CA2186514623 | NR2E3 | c.883C= (p.Leu295=) c.619C= (p.Leu207=) | |
| 15 | g.71813524C>G | CA393037111 | NR2E3 | c.883C>G (p.Leu295Val) c.619C>G (p.Leu207Val) | |
| 15 | g.71813524C>T | CA7640424 | NR2E3 | c.883C>T (p.Leu295=) c.619C>T (p.Leu207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813525T>A | CA393037129 | NR2E3 | c.884T>A (p.Leu295Gln) c.620T>A (p.Leu207Gln) | |
| 15 | g.71813525T>C | CA393037121 | NR2E3 | c.884T>C (p.Leu295Pro) c.620T>C (p.Leu207Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813525T>G | CA393037117 | NR2E3 | c.884T>G (p.Leu295Arg) c.620T>G (p.Leu207Arg) | |
| 15 | g.71813525T= | CA2186514624 | NR2E3 | c.884T= (p.Leu295=) c.620T= (p.Leu207=) | |
| 15 | g.71813526G>A | CA491104855 | NR2E3 | c.885G>A (p.Leu295=) c.621G>A (p.Leu207=) | |
| 15 | g.71813526G>C | CA491104857 | NR2E3 | c.885G>C (p.Leu295=) c.621G>C (p.Leu207=) | |
| 15 | g.71813526G>T | CA491104858 | NR2E3 | c.885G>T (p.Leu295=) c.621G>T (p.Leu207=) | |
| 15 | g.71813527G>A | CA393037131 | NR2E3 | c.886G>A (p.Ala296Thr) c.622G>A (p.Ala208Thr) | |
| 15 | g.71813527G>C | CA393037133 | NR2E3 | c.886G>C (p.Ala296Pro) c.622G>C (p.Ala208Pro) | |
| 15 | g.71813527G>T | CA393037137 | NR2E3 | c.886G>T (p.Ala296Ser) c.622G>T (p.Ala208Ser) | |
| 15 | g.71813528C>A | CA393037141 | NR2E3 | c.887C>A (p.Ala296Asp) c.623C>A (p.Ala208Asp) | dbSNP |
| 15 | g.71813528C= | CA2186514625 | NR2E3 | c.887C= (p.Ala296=) c.623C= (p.Ala208=) | |
| 15 | g.71813528C>G | CA393037143 | NR2E3 | c.887C>G (p.Ala296Gly) c.623C>G (p.Ala208Gly) | |
| 15 | g.71813528C>T | CA393037145 | NR2E3 | c.887C>T (p.Ala296Val) c.623C>T (p.Ala208Val) | dbSNP |
| 15 | g.71813529C>A | CA491104865 | NR2E3 | c.888C>A (p.Ala296=) c.624C>A (p.Ala208=) | |
| 15 | g.71813529C>G | CA491104867 | NR2E3 | c.888C>G (p.Ala296=) c.624C>G (p.Ala208=) | |
| 15 | g.71813529C>T | CA491104868 | NR2E3 | c.888C>T (p.Ala296=) c.624C>T (p.Ala208=) | ClinVar |
| 15 | g.71813530A>C | CA393037149 | NR2E3 | c.889A>C (p.Ser297Arg) c.625A>C (p.Ser209Arg) | |
| 15 | g.71813530A>G | CA393037152 | NR2E3 | c.889A>G (p.Ser297Gly) c.625A>G (p.Ser209Gly) | |
| 15 | g.71813530A>T | CA393037155 | NR2E3 | c.889A>T (p.Ser297Cys) c.625A>T (p.Ser209Cys) | |
| 15 | g.71813531G>A | CA272575645 | NR2E3 | c.890G>A (p.Ser297Asn) c.626G>A (p.Ser209Asn) | dbSNP gnomAD v2 |
| 15 | g.71813531G>C | CA393037156 | NR2E3 | c.890G>C (p.Ser297Thr) c.626G>C (p.Ser209Thr) | |
| 15 | g.71813531G= | CA2186514627 | NR2E3 | c.890G= (p.Ser297=) c.626G= (p.Ser209=) | |
| 15 | g.71813531G>T | CA393037159 | NR2E3 | c.890G>T (p.Ser297Ile) c.626G>T (p.Ser209Ile) | |
| 15 | g.71813531_71813532delinsGC | CA2186514626 | NR2E3 | c.890_891delinsGC (p.Ser297=) c.626_627delinsGC (p.Ser209=) | |
| 15 | g.71813532del | CA2186514628 | NR2E3 | c.891del (p.Ser297ArgfsTer27) c.627del (p.Ser209ArgfsTer27) | dbSNP |
| 15 | g.71813532C>A | CA393037163 | NR2E3 | c.891C>A (p.Ser297Arg) c.627C>A (p.Ser209Arg) | |
| 15 | g.71813532C>G | CA393037165 | NR2E3 | c.891C>G (p.Ser297Arg) c.627C>G (p.Ser209Arg) | |
| 15 | g.71813532C>T | CA491104874 | NR2E3 | c.891C>T (p.Ser297=) c.627C>T (p.Ser209=) | gnomAD v4 |
| 15 | g.71813533A>C | CA393037171 | NR2E3 | c.892A>C (p.Met298Leu) c.628A>C (p.Met210Leu) | |
| 15 | g.71813533A>G | CA393037173 | NR2E3 | c.892A>G (p.Met298Val) c.628A>G (p.Met210Val) | gnomAD v4 |
| 15 | g.71813533A>T | CA393037168 | NR2E3 | c.892A>T (p.Met298Leu) c.628A>T (p.Met210Leu) | |
| 15 | g.71813534T>A | CA393037182 | NR2E3 | c.893T>A (p.Met298Lys) c.629T>A (p.Met210Lys) | |
| 15 | g.71813534T>C | CA7640425 | NR2E3 | c.893T>C (p.Met298Thr) c.629T>C (p.Met210Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813534T>G | CA393037183 | NR2E3 | c.893T>G (p.Met298Arg) c.629T>G (p.Met210Arg) | |
| 15 | g.71813534T= | CA2186514629 | NR2E3 | c.893T= (p.Met298=) c.629T= (p.Met210=) | |
| 15 | g.71813535G>A | CA393037187 | NR2E3 | c.894G>A (p.Met298Ile) c.630G>A (p.Met210Ile) | COSMIC |
| 15 | g.71813535G>C | CA393037192 | NR2E3 | c.894G>C (p.Met298Ile) c.630G>C (p.Met210Ile) | |
| 15 | g.71813535G>T | CA393037190 | NR2E3 | c.894G>T (p.Met298Ile) c.630G>T (p.Met210Ile) | |
| 15 | g.71813536G>A | CA393037195 | NR2E3 | c.895G>A (p.Glu299Lys) c.631G>A (p.Glu211Lys) | COSMIC |
| 15 | g.71813536G>C | CA393037200 | NR2E3 | c.895G>C (p.Glu299Gln) c.631G>C (p.Glu211Gln) | |
| 15 | g.71813536G>T | CA393037197 | NR2E3 | c.895G>T (p.Glu299Ter) c.631G>T (p.Glu211Ter) | |
| 15 | g.71813537A>C | CA393037204 | NR2E3 | c.896A>C (p.Glu299Ala) c.632A>C (p.Glu211Ala) | |
| 15 | g.71813537A>G | CA393037214 | NR2E3 | c.896A>G (p.Glu299Gly) c.632A>G (p.Glu211Gly) | |
| 15 | g.71813537A>T | CA393037210 | NR2E3 | c.896A>T (p.Glu299Val) c.632A>T (p.Glu211Val) | |
| 15 | g.71813538G>A | CA491104882 | NR2E3 | c.897G>A (p.Glu299=) c.633G>A (p.Glu211=) | |
| 15 | g.71813538G>C | CA393037220 | NR2E3 | c.897G>C (p.Glu299Asp) c.633G>C (p.Glu211Asp) | |
| 15 | g.71813538G>T | CA393037226 | NR2E3 | c.897G>T (p.Glu299Asp) c.633G>T (p.Glu211Asp) | |
| 15 | g.71813539A>C | CA393037228 | NR2E3 | c.898A>C (p.Thr300Pro) c.634A>C (p.Thr212Pro) | |
| 15 | g.71813539A>G | CA393037231 | NR2E3 | c.898A>G (p.Thr300Ala) c.634A>G (p.Thr212Ala) | |
| 15 | g.71813539A>T | CA393037233 | NR2E3 | c.898A>T (p.Thr300Ser) c.634A>T (p.Thr212Ser) | |
| 15 | g.71813540C>A | CA272575649 | NR2E3 | c.899C>A (p.Thr300Lys) c.635C>A (p.Thr212Lys) | dbSNP |
| 15 | g.71813540C= | CA2186514630 | NR2E3 | c.899C= (p.Thr300=) c.635C= (p.Thr212=) | |
| 15 | g.71813540C>G | CA393037239 | NR2E3 | c.899C>G (p.Thr300Arg) c.635C>G (p.Thr212Arg) | |
| 15 | g.71813540C>T | CA272575651 | NR2E3 | c.899C>T (p.Thr300Met) c.635C>T (p.Thr212Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813541G>A | CA7640426 | NR2E3 | c.900G>A (p.Thr300=) c.636G>A (p.Thr212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813541G>C | CA491104889 | NR2E3 | c.900G>C (p.Thr300=) c.636G>C (p.Thr212=) | |
| 15 | g.71813541G= | CA2186514631 | NR2E3 | c.900G= (p.Thr300=) c.636G= (p.Thr212=) | |
| 15 | g.71813541G>T | CA491104891 | NR2E3 | c.900G>T (p.Thr300=) c.636G>T (p.Thr212=) | ClinVar gnomAD v4 |
| 15 | g.71813542C>A | CA393037247 | NR2E3 | c.901C>A (p.Arg301Ser) c.637C>A (p.Arg213Ser) | |
| 15 | g.71813542C= | CA2186514632 | NR2E3 | c.901C= (p.Arg301=) c.637C= (p.Arg213=) | |
| 15 | g.71813542C>G | CA393037250 | NR2E3 | c.901C>G (p.Arg301Gly) c.637C>G (p.Arg213Gly) | |
| 15 | g.71813542C>T | CA393037253 | NR2E3 | c.901C>T (p.Arg301Cys) c.637C>T (p.Arg213Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813543G>A | CA7640427 | NR2E3 | c.902G>A (p.Arg301His) c.638G>A (p.Arg213His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813543G>C | CA393037264 | NR2E3 | c.902G>C (p.Arg301Pro) c.638G>C (p.Arg213Pro) | |
| 15 | g.71813543G= | CA2186514633 | NR2E3 | c.902G= (p.Arg301=) c.638G= (p.Arg213=) | |
| 15 | g.71813543G>T | CA393037262 | NR2E3 | c.902G>T (p.Arg301Leu) c.638G>T (p.Arg213Leu) | COSMIC |
| 15 | g.71813544T>A | CA491104895 | NR2E3 | c.903T>A (p.Arg301=) c.639T>A (p.Arg213=) | |
| 15 | g.71813544T>C | CA491104897 | NR2E3 | c.903T>C (p.Arg301=) c.639T>C (p.Arg213=) | ClinVar |
| 15 | g.71813544T>G | CA491104899 | NR2E3 | c.903T>G (p.Arg301=) c.639T>G (p.Arg213=) | |
| 15 | g.71813545G>A | CA7640428 | NR2E3 | c.904G>A (p.Val302Ile) c.640G>A (p.Val214Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813545G>C | CA393037277 | NR2E3 | c.904G>C (p.Val302Leu) c.640G>C (p.Val214Leu) | |
| 15 | g.71813545G= | CA2186514634 | NR2E3 | c.904G= (p.Val302=) c.640G= (p.Val214=) | |
| 15 | g.71813545G>T | CA393037280 | NR2E3 | c.904G>T (p.Val302Phe) c.640G>T (p.Val214Phe) | |
| 15 | g.71813546T>A | CA393037284 | NR2E3 | c.905T>A (p.Val302Asp) c.641T>A (p.Val214Asp) | |
| 15 | g.71813546T>C | CA7640429 | NR2E3 | c.905T>C (p.Val302Ala) c.641T>C (p.Val214Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813546T>G | CA393037290 | NR2E3 | c.905T>G (p.Val302Gly) c.641T>G (p.Val214Gly) | |
| 15 | g.71813546T= | CA2186514635 | NR2E3 | c.905T= (p.Val302=) c.641T= (p.Val214=) | |
| 15 | g.71813547C>A | CA491104905 | NR2E3 | c.906C>A (p.Val302=) c.642C>A (p.Val214=) | |
| 15 | g.71813547C>G | CA491104907 | NR2E3 | c.906C>G (p.Val302=) c.642C>G (p.Val214=) | ClinVar |
| 15 | g.71813547C>T | CA491104909 | NR2E3 | c.906C>T (p.Val302=) c.642C>T (p.Val214=) | |
| 15 | g.71813548C>A | CA393037293 | NR2E3 | c.907C>A (p.Leu303Met) c.643C>A (p.Leu215Met) | |
| 15 | g.71813548C>G | CA393037295 | NR2E3 | c.907C>G (p.Leu303Val) c.643C>G (p.Leu215Val) | |
| 15 | g.71813548C>T | CA491104910 | NR2E3 | c.907C>T (p.Leu303=) c.643C>T (p.Leu215=) | |
| 15 | g.71813549T>A | CA393037303 | NR2E3 | c.908T>A (p.Leu303Gln) c.644T>A (p.Leu215Gln) | |
| 15 | g.71813549T>C | CA393037305 | NR2E3 | c.908T>C (p.Leu303Pro) c.644T>C (p.Leu215Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813549T>G | CA393037309 | NR2E3 | c.908T>G (p.Leu303Arg) c.644T>G (p.Leu215Arg) | |
| 15 | g.71813549T= | CA2186514636 | NR2E3 | c.908T= (p.Leu303=) c.644T= (p.Leu215=) | |
| 15 | g.71813550G>A | CA491104914 | NR2E3 | c.909G>A (p.Leu303=) c.645G>A (p.Leu215=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813550G>C | CA491104915 | NR2E3 | c.909G>C (p.Leu303=) c.645G>C (p.Leu215=) | |
| 15 | g.71813550G= | CA2186514637 | NR2E3 | c.909G= (p.Leu303=) c.645G= (p.Leu215=) | |
| 15 | g.71813550G>T | CA491104913 | NR2E3 | c.909G>T (p.Leu303=) c.645G>T (p.Leu215=) | |
| 15 | g.71813551C>A | CA393037316 | NR2E3 | c.910C>A (p.Gln304Lys) c.646C>A (p.Gln216Lys) | |
| 15 | g.71813551C>G | CA393037314 | NR2E3 | c.910C>G (p.Gln304Glu) c.646C>G (p.Gln216Glu) | |
| 15 | g.71813551C>T | CA393037311 | NR2E3 | c.910C>T (p.Gln304Ter) c.646C>T (p.Gln216Ter) | |
| 15 | g.71813552A= | CA2186514638 | NR2E3 | c.911A= (p.Gln304=) c.647A= (p.Gln216=) | |
| 15 | g.71813552A>C | CA7640430 | NR2E3 | c.911A>C (p.Gln304Pro) c.647A>C (p.Gln216Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813552A>G | CA393037326 | NR2E3 | c.911A>G (p.Gln304Arg) c.647A>G (p.Gln216Arg) | dbSNP |
| 15 | g.71813552A>T | CA393037329 | NR2E3 | c.911A>T (p.Gln304Leu) c.647A>T (p.Gln216Leu) | |
| 15 | g.71813553G>A | CA491104920 | NR2E3 | c.912G>A (p.Gln304=) c.648G>A (p.Gln216=) | |
| 15 | g.71813553G>C | CA393037333 | NR2E3 | c.912G>C (p.Gln304His) c.648G>C (p.Gln216His) | |
| 15 | g.71813553G>T | CA393037339 | NR2E3 | c.912G>T (p.Gln304His) c.648G>T (p.Gln216His) | |
| 15 | g.71813554G>A | CA393037342 | NR2E3 | c.913G>A (p.Glu305Lys) c.649G>A (p.Glu217Lys) | |
| 15 | g.71813554G>C | CA393037345 | NR2E3 | c.913G>C (p.Glu305Gln) c.649G>C (p.Glu217Gln) | |
| 15 | g.71813554G>T | CA393037350 | NR2E3 | c.913G>T (p.Glu305Ter) c.649G>T (p.Glu217Ter) | |
| 15 | g.71813555A>C | CA393037356 | NR2E3 | c.914A>C (p.Glu305Ala) c.650A>C (p.Glu217Ala) | |
| 15 | g.71813555A>G | CA393037359 | NR2E3 | c.914A>G (p.Glu305Gly) c.650A>G (p.Glu217Gly) | |
| 15 | g.71813555A>T | CA393037372 | NR2E3 | c.914A>T (p.Glu305Val) c.650A>T (p.Glu217Val) | |
| 15 | g.71813556A>C | CA393037380 | NR2E3 | c.915A>C (p.Glu305Asp) c.651A>C (p.Glu217Asp) | |
| 15 | g.71813556A>G | CA491104933 | NR2E3 | c.915A>G (p.Glu305=) c.651A>G (p.Glu217=) | |
| 15 | g.71813556A>T | CA393037384 | NR2E3 | c.915A>T (p.Glu305Asp) c.651A>T (p.Glu217Asp) | |
| 15 | g.71813557A>C | CA393037399 | NR2E3 | c.916A>C (p.Thr306Pro) c.652A>C (p.Thr218Pro) | |
| 15 | g.71813557A>G | CA393037406 | NR2E3 | c.916A>G (p.Thr306Ala) c.652A>G (p.Thr218Ala) | dbSNP gnomAD v4 |
| 15 | g.71813557A>T | CA393037401 | NR2E3 | c.916A>T (p.Thr306Ser) c.652A>T (p.Thr218Ser) | |
| 15 | g.71813558C>A | CA393037410 | NR2E3 | c.917C>A (p.Thr306Asn) c.653C>A (p.Thr218Asn) | |
| 15 | g.71813558C>G | CA393037413 | NR2E3 | c.917C>G (p.Thr306Ser) c.653C>G (p.Thr218Ser) | |
| 15 | g.71813558C>T | CA393037415 | NR2E3 | c.917C>T (p.Thr306Ile) c.653C>T (p.Thr218Ile) | |
| 15 | g.71813559T>A | CA491104941 | NR2E3 | c.918T>A (p.Thr306=) c.654T>A (p.Thr218=) | |
| 15 | g.71813559T>C | CA491104939 | NR2E3 | c.918T>C (p.Thr306=) c.654T>C (p.Thr218=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813559T>G | CA491104940 | NR2E3 | c.918T>G (p.Thr306=) c.654T>G (p.Thr218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813559T= | CA2186514639 | NR2E3 | c.918T= (p.Thr306=) c.654T= (p.Thr218=) | |
| 15 | g.71813560_71813561del | CA2695220968 | NR2E3 | c.919_920del (p.Ile307LeufsTer?) c.655_656del (p.Ile219LeufsTer?) | |
| 15 | g.71813560A= | CA2186514640 | NR2E3 | c.919A= (p.Ile307=) c.655A= (p.Ile219=) | |
| 15 | g.71813560A>C | CA7640431 | NR2E3 | c.919A>C (p.Ile307Leu) c.655A>C (p.Ile219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813560A>G | CA393037428 | NR2E3 | c.919A>G (p.Ile307Val) c.655A>G (p.Ile219Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813560A>T | CA393037431 | NR2E3 | c.919A>T (p.Ile307Phe) c.655A>T (p.Ile219Phe) | |
| 15 | g.71813561T>A | CA393037436 | NR2E3 | c.920T>A (p.Ile307Asn) c.656T>A (p.Ile219Asn) | dbSNP |
| 15 | g.71813561T>C | CA7640432 | NR2E3 | c.920T>C (p.Ile307Thr) c.656T>C (p.Ile219Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813561T>G | CA393037442 | NR2E3 | c.920T>G (p.Ile307Ser) c.656T>G (p.Ile219Ser) | |
| 15 | g.71813561T= | CA2186514641 | NR2E3 | c.920T= (p.Ile307=) c.656T= (p.Ile219=) | |
| 15 | g.71813562C>A | CA491104945 | NR2E3 | c.921C>A (p.Ile307=) c.657C>A (p.Ile219=) | |
| 15 | g.71813562C>G | CA393037446 | NR2E3 | c.921C>G (p.Ile307Met) c.657C>G (p.Ile219Met) | |
| 15 | g.71813562C>T | CA491104947 | NR2E3 | c.921C>T (p.Ile307=) c.657C>T (p.Ile219=) | |
| 15 | g.71813563T>A | CA393037455 | NR2E3 | c.922T>A (p.Ser308Thr) c.658T>A (p.Ser220Thr) | |
| 15 | g.71813563T>C | CA7640433 | NR2E3 | c.922T>C (p.Ser308Pro) c.658T>C (p.Ser220Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813563T>G | CA393037452 | NR2E3 | c.922T>G (p.Ser308Ala) c.658T>G (p.Ser220Ala) | |
| 15 | g.71813563T= | CA2186514642 | NR2E3 | c.922T= (p.Ser308=) c.658T= (p.Ser220=) | |
| 15 | g.71813564C>A | CA393037471 | NR2E3 | c.923C>A (p.Ser308Tyr) c.659C>A (p.Ser220Tyr) | |
| 15 | g.71813564C= | CA2186514643 | NR2E3 | c.923C= (p.Ser308=) c.659C= (p.Ser220=) | |
| 15 | g.71813564C>G | CA272575657 | NR2E3 | c.923C>G (p.Ser308Cys) c.659C>G (p.Ser220Cys) | dbSNP gnomAD v4 |
| 15 | g.71813564C>T | CA393037466 | NR2E3 | c.923C>T (p.Ser308Phe) c.659C>T (p.Ser220Phe) | |
| 15 | g.71813565T>A | CA491104962 | NR2E3 | c.924T>A (p.Ser308=) c.660T>A (p.Ser220=) | |
| 15 | g.71813565T>C | CA491104963 | NR2E3 | c.924T>C (p.Ser308=) c.660T>C (p.Ser220=) | |
| 15 | g.71813565T>G | CA491104964 | NR2E3 | c.924T>G (p.Ser308=) c.660T>G (p.Ser220=) | |
| 15 | g.71813566C>A | CA491104968 | NR2E3 | c.925C>A (p.Arg309=) c.661C>A (p.Arg221=) | |
| 15 | g.71813566C= | CA2186514644 | NR2E3 | c.925C= (p.Arg309=) c.661C= (p.Arg221=) | |
| 15 | g.71813566C>G | CA393037479 | NR2E3 | c.925C>G (p.Arg309Gly) c.661C>G (p.Arg221Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813566C>T | CA7640434 | NR2E3 | c.925C>T (p.Arg309Trp) c.661C>T (p.Arg221Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813567G>A | CA7640435 | NR2E3 | c.926G>A (p.Arg309Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813567G>C | CA393037486 | NR2E3 | c.926G>C (p.Arg309Pro) c.662G>C (p.Arg221Pro) | |
| 15 | g.71813567G= | CA2186514645 | NR2E3 | c.926G= (p.Arg309=) c.662G= (p.Arg221=) | |
| 15 | g.71813567G>T | CA235938 | NR2E3 | c.926G>T (p.Arg309Leu) c.662G>T (p.Arg221Leu) | ClinVar dbSNP |
| 15 | g.71813568G>A | CA491104973 | NR2E3 | c.927G>A (p.Arg309=) c.663G>A (p.Arg221=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813568G>C | CA491104976 | NR2E3 | c.927G>C (p.Arg309=) c.663G>C (p.Arg221=) | |
| 15 | g.71813568G>T | CA491104978 | NR2E3 | c.927G>T (p.Arg309=) c.663G>T (p.Arg221=) | |
| 15 | g.71813569T>A | CA393037493 | NR2E3 | c.928T>A (p.Phe310Ile) c.664T>A (p.Phe222Ile) | |
| 15 | g.71813569T>C | CA393037499 | NR2E3 | c.928T>C (p.Phe310Leu) c.664T>C (p.Phe222Leu) | |
| 15 | g.71813569T>G | CA393037503 | NR2E3 | c.928T>G (p.Phe310Val) c.664T>G (p.Phe222Val) | |
| 15 | g.71813570T>A | CA393037510 | NR2E3 | c.929T>A (p.Phe310Tyr) c.665T>A (p.Phe222Tyr) | |
| 15 | g.71813570T>C | CA393037513 | NR2E3 | c.929T>C (p.Phe310Ser) c.665T>C (p.Phe222Ser) | |
| 15 | g.71813570T>G | CA393037530 | NR2E3 | c.929T>G (p.Phe310Cys) c.665T>G (p.Phe222Cys) | |
| 15 | g.71813571C>A | CA393037534 | NR2E3 | c.930C>A (p.Phe310Leu) c.666C>A (p.Phe222Leu) | |
| 15 | g.71813571C>G | CA393037535 | NR2E3 | c.930C>G (p.Phe310Leu) c.666C>G (p.Phe222Leu) | ClinVar gnomAD v4 |
| 15 | g.71813571C>T | CA491104988 | NR2E3 | c.930C>T (p.Phe310=) c.666C>T (p.Phe222=) | |
| 15 | g.71813572C>A | CA491104989 | NR2E3 | c.931C>A (p.Arg311=) c.667C>A (p.Arg223=) | |
| 15 | g.71813572C= | CA2186514646 | NR2E3 | c.931C= (p.Arg311=) c.667C= (p.Arg223=) | |
| 15 | g.71813572C>G | CA393037536 | NR2E3 | c.931C>G (p.Arg311Gly) c.667C>G (p.Arg223Gly) | |
| 15 | g.71813572C>T | CA7640436 | NR2E3 | c.931C>T (p.Arg311Trp) c.667C>T (p.Arg223Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813573G>A | CA117575 | NR2E3 | c.932G>A (p.Arg311Gln) c.668G>A (p.Arg223Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813573G>C | CA393037548 | NR2E3 | c.932G>C (p.Arg311Pro) c.668G>C (p.Arg223Pro) | |
| 15 | g.71813573G= | CA2186514647 | NR2E3 | c.932G= (p.Arg311=) c.668G= (p.Arg223=) | |
| 15 | g.71813573G>T | CA393037550 | NR2E3 | c.932G>T (p.Arg311Leu) c.668G>T (p.Arg223Leu) | |
| 15 | g.71813574G>A | CA491104996 | NR2E3 | c.933G>A (p.Arg311=) c.669G>A (p.Arg223=) | |
| 15 | g.71813574G>C | CA491104999 | NR2E3 | c.933G>C (p.Arg311=) c.669G>C (p.Arg223=) | |
| 15 | g.71813574G>T | CA491105001 | NR2E3 | c.933G>T (p.Arg311=) c.669G>T (p.Arg223=) | |
| 15 | g.71813575G>A | CA393037556 | NR2E3 | c.934G>A (p.Ala312Thr) c.670G>A (p.Ala224Thr) | gnomAD v4 |
| 15 | g.71813575G>C | CA393037559 | NR2E3 | c.934G>C (p.Ala312Pro) c.670G>C (p.Ala224Pro) | |
| 15 | g.71813575G>T | CA393037563 | NR2E3 | c.934G>T (p.Ala312Ser) c.670G>T (p.Ala224Ser) | gnomAD v4 |
| 15 | g.71813576C>A | CA393037568 | NR2E3 | c.935C>A (p.Ala312Glu) c.671C>A (p.Ala224Glu) | gnomAD v4 |
| 15 | g.71813576C= | CA2186514648 | NR2E3 | c.935C= (p.Ala312=) c.671C= (p.Ala224=) | |
| 15 | g.71813576C>G | CA272575661 | NR2E3 | c.935C>G (p.Ala312Gly) c.671C>G (p.Ala224Gly) | dbSNP |
| 15 | g.71813576C>T | CA393037577 | NR2E3 | c.935C>T (p.Ala312Val) c.671C>T (p.Ala224Val) |