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.71813378_71813381del | CA715430747 | NR2E3 | c.748-11_748-8del (n.748-11_748-8del) c.484-11_484-8del (n.484-11_484-8del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813379C>A | CA2186514556 | NR2E3 | c.748-10C>A (n.748-10C>A) c.484-10C>A (n.484-10C>A) | dbSNP gnomAD v4 |
| 15 | g.71813379C= | CA2186514555 | NR2E3 | c.748-10C= (n.748-10C=) c.484-10C= (n.484-10C=) | |
| 15 | g.71813381G>A | CA618749099 | NR2E3 | c.748-8G>A (n.748-8G>A) c.484-8G>A (n.484-8G>A) | dbSNP gnomAD v2 |
| 15 | g.71813381G= | CA2186514557 | NR2E3 | c.748-8G= (n.748-8G=) c.484-8G= (n.484-8G=) | |
| 15 | g.71813381G>T | CA2629294136 | NR2E3 | c.748-8G>T (n.748-8G>T) c.484-8G>T (n.484-8G>T) | gnomAD v4 |
| 15 | g.71813383G>A | CA618749100 | NR2E3 | c.748-6G>A (n.748-6G>A) c.484-6G>A (n.484-6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813383G= | CA2186514558 | NR2E3 | c.748-6G= (n.748-6G=) c.484-6G= (n.484-6G=) | |
| 15 | g.71813384C= | CA2186514559 | NR2E3 | c.748-5C= (n.748-5C=) c.484-5C= (n.484-5C=) | |
| 15 | g.71813384C>T | CA618749101 | NR2E3 | c.748-5C>T (n.748-5C>T) c.484-5C>T (n.484-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813387A>C | CA393036095 | NR2E3 | c.748-2A>C (n.748-2A>C) c.484-2A>C (n.484-2A>C) | |
| 15 | g.71813387A>G | CA393036097 | NR2E3 | c.748-2A>G (n.748-2A>G) c.484-2A>G (n.484-2A>G) | |
| 15 | g.71813387A>T | CA393036099 | NR2E3 | c.748-2A>T (n.748-2A>T) c.484-2A>T (n.484-2A>T) | gnomAD v4 |
| 15 | g.71813388G>A | CA393036102 | NR2E3 | c.748-1G>A (n.748-1G>A) c.484-1G>A (n.484-1G>A) | ClinVar dbSNP |
| 15 | g.71813388G>C | CA393036103 | NR2E3 | c.748-1G>C (n.748-1G>C) c.484-1G>C (n.484-1G>C) | |
| 15 | g.71813388G= | CA2186514560 | NR2E3 | c.748-1G= (n.748-1G=) c.484-1G= (n.484-1G=) | |
| 15 | g.71813388G>T | CA393036104 | NR2E3 | c.748-1G>T (n.748-1G>T) c.484-1G>T (n.484-1G>T) | gnomAD v4 |
| 15 | g.71813389G>A | CA393036107 | NR2E3 | c.748G>A (p.Val250Met) c.484G>A (p.Val162Met) | |
| 15 | g.71813389G>C | CA393036108 | NR2E3 | c.748G>C (p.Val250Leu) c.484G>C (p.Val162Leu) | |
| 15 | g.71813389G>T | CA393036110 | NR2E3 | c.748G>T (p.Val250Leu) c.484G>T (p.Val162Leu) | |
| 15 | g.71813390T>A | CA393036111 | NR2E3 | c.749T>A (p.Val250Glu) c.485T>A (p.Val162Glu) | |
| 15 | g.71813390T>C | CA393036112 | NR2E3 | c.749T>C (p.Val250Ala) c.485T>C (p.Val162Ala) | |
| 15 | g.71813390T>G | CA393036115 | NR2E3 | c.749T>G (p.Val250Gly) c.485T>G (p.Val162Gly) | |
| 15 | g.71813391G>A | CA491104011 | NR2E3 | c.750G>A (p.Val250=) c.486G>A (p.Val162=) | gnomAD v4 |
| 15 | g.71813391G>C | CA491104013 | NR2E3 | c.750G>C (p.Val250=) c.486G>C (p.Val162=) | |
| 15 | g.71813391G>T | CA491104014 | NR2E3 | c.750G>T (p.Val250=) c.486G>T (p.Val162=) | gnomAD v4 COSMIC |
| 15 | g.71813392A= | CA2186514561 | NR2E3 | c.751A= (p.Ile251=) c.487A= (p.Ile163=) | |
| 15 | g.71813392A>C | CA393036120 | NR2E3 | c.751A>C (p.Ile251Leu) c.487A>C (p.Ile163Leu) | |
| 15 | g.71813392A>G | CA272575618 | NR2E3 | c.751A>G (p.Ile251Val) c.487A>G (p.Ile163Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813392A>T | CA393036122 | NR2E3 | c.751A>T (p.Ile251Phe) c.487A>T (p.Ile163Phe) | |
| 15 | g.71813393T>A | CA7640398 | NR2E3 | c.752T>A (p.Ile251Asn) c.488T>A (p.Ile163Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813393T>C | CA393036132 | NR2E3 | c.752T>C (p.Ile251Thr) c.488T>C (p.Ile163Thr) | COSMIC |
| 15 | g.71813393T>G | CA393036130 | NR2E3 | c.752T>G (p.Ile251Ser) c.488T>G (p.Ile163Ser) | |
| 15 | g.71813393T= | CA2186514562 | NR2E3 | c.752T= (p.Ile251=) c.488T= (p.Ile163=) | |
| 15 | g.71813394C>A | CA491104032 | NR2E3 | c.753C>A (p.Ile251=) c.489C>A (p.Ile163=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813394C= | CA2186514563 | NR2E3 | c.753C= (p.Ile251=) c.489C= (p.Ile163=) | |
| 15 | g.71813394C>G | CA393036138 | NR2E3 | c.753C>G (p.Ile251Met) c.489C>G (p.Ile163Met) | |
| 15 | g.71813394C>T | CA491104034 | NR2E3 | c.753C>T (p.Ile251=) c.489C>T (p.Ile163=) | ClinVar gnomAD v4 |
| 15 | g.71813395C>A | CA393036140 | NR2E3 | c.754C>A (p.Leu252Met) c.490C>A (p.Leu164Met) | dbSNP |
| 15 | g.71813395C= | CA2186514564 | NR2E3 | c.754C= (p.Leu252=) c.490C= (p.Leu164=) | |
| 15 | g.71813395C>G | CA393036144 | NR2E3 | c.754C>G (p.Leu252Val) c.490C>G (p.Leu164Val) | |
| 15 | g.71813395C>T | CA491104038 | NR2E3 | c.754C>T (p.Leu252=) c.490C>T (p.Leu164=) | dbSNP gnomAD v4 |
| 15 | g.71813396T>A | CA393036154 | NR2E3 | c.755T>A (p.Leu252Gln) c.491T>A (p.Leu164Gln) | |
| 15 | g.71813396T>C | CA393036159 | NR2E3 | c.755T>C (p.Leu252Pro) c.491T>C (p.Leu164Pro) | gnomAD v4 |
| 15 | g.71813396T>G | CA393036161 | NR2E3 | c.755T>G (p.Leu252Arg) c.491T>G (p.Leu164Arg) | |
| 15 | g.71813397G>A | CA491104047 | NR2E3 | c.756G>A (p.Leu252=) c.492G>A (p.Leu164=) | dbSNP gnomAD v2 |
| 15 | g.71813397G>C | CA7640399 | NR2E3 | c.756G>C (p.Leu252=) c.492G>C (p.Leu164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813397G= | CA2186514565 | NR2E3 | c.756G= (p.Leu252=) c.492G= (p.Leu164=) | |
| 15 | g.71813397G>T | CA491104045 | NR2E3 | c.756G>T (p.Leu252=) c.492G>T (p.Leu164=) | gnomAD v4 |
| 15 | g.71813398C>A | CA393036167 | NR2E3 | c.757C>A (p.Leu253Met) c.493C>A (p.Leu165Met) | gnomAD v4 |
| 15 | g.71813398C= | CA2186514566 | NR2E3 | c.757C= (p.Leu253=) c.493C= (p.Leu165=) | |
| 15 | g.71813398C>G | CA393036169 | NR2E3 | c.757C>G (p.Leu253Val) c.493C>G (p.Leu165Val) | |
| 15 | g.71813398C>T | CA491104055 | NR2E3 | c.757C>T (p.Leu253=) c.493C>T (p.Leu165=) | dbSNP gnomAD v4 |
| 15 | g.71813399T>A | CA393036174 | NR2E3 | c.758T>A (p.Leu253Gln) c.494T>A (p.Leu165Gln) | |
| 15 | g.71813399T>C | CA393036177 | NR2E3 | c.758T>C (p.Leu253Pro) c.494T>C (p.Leu165Pro) | ClinVar |
| 15 | g.71813399T>G | CA393036181 | NR2E3 | c.758T>G (p.Leu253Arg) c.494T>G (p.Leu165Arg) | |
| 15 | g.71813400G>A | CA491104071 | NR2E3 | c.759G>A (p.Leu253=) c.495G>A (p.Leu165=) | gnomAD v4 |
| 15 | g.71813400G>C | CA491104069 | NR2E3 | c.759G>C (p.Leu253=) c.495G>C (p.Leu165=) | |
| 15 | g.71813400G>T | CA491104068 | NR2E3 | c.759G>T (p.Leu253=) c.495G>T (p.Leu165=) | |
| 15 | g.71813401G>A | CA393036187 | NR2E3 | c.760G>A (p.Glu254Lys) c.496G>A (p.Glu166Lys) | gnomAD v4 |
| 15 | g.71813401G>C | CA393036184 | NR2E3 | c.760G>C (p.Glu254Gln) c.496G>C (p.Glu166Gln) | gnomAD v4 |
| 15 | g.71813401G>T | CA393036186 | NR2E3 | c.760G>T (p.Glu254Ter) c.496G>T (p.Glu166Ter) | |
| 15 | g.71813402A>C | CA393036188 | NR2E3 | c.761A>C (p.Glu254Ala) c.497A>C (p.Glu166Ala) | |
| 15 | g.71813402A>G | CA393036190 | NR2E3 | c.761A>G (p.Glu254Gly) c.497A>G (p.Glu166Gly) | |
| 15 | g.71813402A>T | CA393036193 | NR2E3 | c.761A>T (p.Glu254Val) c.497A>T (p.Glu166Val) | |
| 15 | g.71813403A>C | CA393036198 | NR2E3 | c.762A>C (p.Glu254Asp) c.498A>C (p.Glu166Asp) | |
| 15 | g.71813403A>G | CA491104087 | NR2E3 | c.762A>G (p.Glu254=) c.498A>G (p.Glu166=) | |
| 15 | g.71813403A>T | CA393036201 | NR2E3 | c.762A>T (p.Glu254Asp) c.498A>T (p.Glu166Asp) | |
| 15 | g.71813404G>A | CA393036203 | NR2E3 | c.763G>A (p.Glu255Lys) c.499G>A (p.Glu167Lys) | gnomAD v4 |
| 15 | g.71813404G>C | CA393036206 | NR2E3 | c.763G>C (p.Glu255Gln) c.499G>C (p.Glu167Gln) | |
| 15 | g.71813404G>T | CA393036209 | NR2E3 | c.763G>T (p.Glu255Ter) c.499G>T (p.Glu167Ter) | |
| 15 | g.71813405A>C | CA393036213 | NR2E3 | c.764A>C (p.Glu255Ala) c.500A>C (p.Glu167Ala) | |
| 15 | g.71813405A>G | CA393036216 | NR2E3 | c.764A>G (p.Glu255Gly) c.500A>G (p.Glu167Gly) | |
| 15 | g.71813405A>T | CA393036219 | NR2E3 | c.764A>T (p.Glu255Val) c.500A>T (p.Glu167Val) | |
| 15 | g.71813406G>A | CA491104119 | NR2E3 | c.765G>A (p.Glu255=) c.501G>A (p.Glu167=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813406G>C | CA393036221 | NR2E3 | c.765G>C (p.Glu255Asp) c.501G>C (p.Glu167Asp) | |
| 15 | g.71813406G>T | CA393036220 | NR2E3 | c.765G>T (p.Glu255Asp) c.501G>T (p.Glu167Asp) | |
| 15 | g.71813407G>A | CA393036223 | NR2E3 | c.766G>A (p.Ala256Thr) c.502G>A (p.Ala168Thr) | |
| 15 | g.71813407G>C | CA393036225 | NR2E3 | c.766G>C (p.Ala256Pro) c.502G>C (p.Ala168Pro) | |
| 15 | g.71813407G>T | CA393036229 | NR2E3 | c.766G>T (p.Ala256Ser) c.502G>T (p.Ala168Ser) | gnomAD v4 |
| 15 | g.71813408C>A | CA7640401 | NR2E3 | c.767C>A (p.Ala256Glu) c.503C>A (p.Ala168Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813408C= | CA2186514567 | NR2E3 | c.767C= (p.Ala256=) c.503C= (p.Ala168=) | |
| 15 | g.71813408C>G | CA393036234 | NR2E3 | c.767C>G (p.Ala256Gly) c.503C>G (p.Ala168Gly) | |
| 15 | g.71813408C>T | CA7640400 | NR2E3 | c.767C>T (p.Ala256Val) c.503C>T (p.Ala168Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813409G>A | CA491104144 | NR2E3 | c.768G>A (p.Ala256=) c.504G>A (p.Ala168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813409G>C | CA491104150 | NR2E3 | c.768G>C (p.Ala256=) c.504G>C (p.Ala168=) | |
| 15 | g.71813409G= | CA2186514568 | NR2E3 | c.768G= (p.Ala256=) c.504G= (p.Ala168=) | |
| 15 | g.71813409G>T | CA491104146 | NR2E3 | c.768G>T (p.Ala256=) c.504G>T (p.Ala168=) | |
| 15 | g.71813412_71813416del | CA2697549192 | NR2E3 | c.771_775del (p.Trp257Ter) c.507_511del (p.Trp169Ter) | ClinVar |
| 15 | g.71813410T>A | CA393036239 | NR2E3 | c.769T>A (p.Trp257Arg) c.505T>A (p.Trp169Arg) | |
| 15 | g.71813410T>C | CA393036241 | NR2E3 | c.769T>C (p.Trp257Arg) c.505T>C (p.Trp169Arg) | |
| 15 | g.71813410T>G | CA393036243 | NR2E3 | c.769T>G (p.Trp257Gly) c.505T>G (p.Trp169Gly) | |
| 15 | g.71813411G>A | CA272575622 | NR2E3 | c.770G>A (p.Trp257Ter) c.506G>A (p.Trp169Ter) | dbSNP gnomAD v4 |
| 15 | g.71813411G>C | CA272575624 | NR2E3 | c.770G>C (p.Trp257Ser) c.506G>C (p.Trp169Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813411G= | CA2186514569 | NR2E3 | c.770G= (p.Trp257=) c.506G= (p.Trp169=) | |
| 15 | g.71813411G>T | CA393036253 | NR2E3 | c.770G>T (p.Trp257Leu) c.506G>T (p.Trp169Leu) | |
| 15 | g.71813412G>A | CA393036256 | NR2E3 | c.771G>A (p.Trp257Ter) c.507G>A (p.Trp169Ter) | ClinVar |
| 15 | g.71813412G>C | CA393036259 | NR2E3 | c.771G>C (p.Trp257Cys) c.507G>C (p.Trp169Cys) | |
| 15 | g.71813412G>T | CA393036254 | NR2E3 | c.771G>T (p.Trp257Cys) c.507G>T (p.Trp169Cys) | |
| 15 | g.71813413A= | CA2186514570 | NR2E3 | c.772A= (p.Ser258=) c.508A= (p.Ser170=) | |
| 15 | g.71813413A>C | CA393036262 | NR2E3 | c.772A>C (p.Ser258Arg) c.508A>C (p.Ser170Arg) | |
| 15 | g.71813413A>G | CA393036263 | NR2E3 | c.772A>G (p.Ser258Gly) c.508A>G (p.Ser170Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813413A>T | CA393036264 | NR2E3 | c.772A>T (p.Ser258Cys) c.508A>T (p.Ser170Cys) | |
| 15 | g.71813414G>A | CA393036267 | NR2E3 | c.773G>A (p.Ser258Asn) c.509G>A (p.Ser170Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813414G>C | CA393036269 | NR2E3 | c.773G>C (p.Ser258Thr) c.509G>C (p.Ser170Thr) | |
| 15 | g.71813414G= | CA2186514571 | NR2E3 | c.773G= (p.Ser258=) c.509G= (p.Ser170=) | |
| 15 | g.71813414G>T | CA393036270 | NR2E3 | c.773G>T (p.Ser258Ile) c.509G>T (p.Ser170Ile) | |
| 15 | g.71813415T>A | CA393036274 | NR2E3 | c.774T>A (p.Ser258Arg) c.510T>A (p.Ser170Arg) | |
| 15 | g.71813415T>C | CA491104222 | NR2E3 | c.774T>C (p.Ser258=) c.510T>C (p.Ser170=) | |
| 15 | g.71813415T>G | CA393036281 | NR2E3 | c.774T>G (p.Ser258Arg) c.510T>G (p.Ser170Arg) | |
| 15 | g.71813416G>A | CA393036285 | NR2E3 | c.775G>A (p.Glu259Lys) c.511G>A (p.Glu171Lys) | |
| 15 | g.71813416G>C | CA393036286 | NR2E3 | c.775G>C (p.Glu259Gln) c.511G>C (p.Glu171Gln) | |
| 15 | g.71813416G>T | CA393036287 | NR2E3 | c.775G>T (p.Glu259Ter) c.511G>T (p.Glu171Ter) | gnomAD v4 |
| 15 | g.71813417A>C | CA393036291 | NR2E3 | c.776A>C (p.Glu259Ala) c.512A>C (p.Glu171Ala) | |
| 15 | g.71813417A>G | CA393036292 | NR2E3 | c.776A>G (p.Glu259Gly) c.512A>G (p.Glu171Gly) | |
| 15 | g.71813417A>T | CA393036294 | NR2E3 | c.776A>T (p.Glu259Val) c.512A>T (p.Glu171Val) | |
| 15 | g.71813418A>C | CA393036296 | NR2E3 | c.777A>C (p.Glu259Asp) c.513A>C (p.Glu171Asp) | gnomAD v4 |
| 15 | g.71813418A>G | CA491104242 | NR2E3 | c.777A>G (p.Glu259=) c.513A>G (p.Glu171=) | |
| 15 | g.71813418A>T | CA393036299 | NR2E3 | c.777A>T (p.Glu259Asp) c.513A>T (p.Glu171Asp) | |
| 15 | g.71813419C>A | CA393036303 | NR2E3 | c.778C>A (p.Leu260Ile) c.514C>A (p.Leu172Ile) | |
| 15 | g.71813419C>G | CA393036307 | NR2E3 | c.778C>G (p.Leu260Val) c.514C>G (p.Leu172Val) | gnomAD v4 |
| 15 | g.71813419C>T | CA393036304 | NR2E3 | c.778C>T (p.Leu260Phe) c.514C>T (p.Leu172Phe) | gnomAD v4 |
| 15 | g.71813420T>A | CA393036313 | NR2E3 | c.779T>A (p.Leu260His) c.515T>A (p.Leu172His) | |
| 15 | g.71813420T>C | CA393036318 | NR2E3 | c.779T>C (p.Leu260Pro) c.515T>C (p.Leu172Pro) | |
| 15 | g.71813420T>G | CA393036315 | NR2E3 | c.779T>G (p.Leu260Arg) c.515T>G (p.Leu172Arg) | |
| 15 | g.71813421C>A | CA491104276 | NR2E3 | c.780C>A (p.Leu260=) c.516C>A (p.Leu172=) | |
| 15 | g.71813421C= | CA2186514572 | NR2E3 | c.780C= (p.Leu260=) c.516C= (p.Leu172=) | |
| 15 | g.71813421C>G | CA491104270 | NR2E3 | c.780C>G (p.Leu260=) c.516C>G (p.Leu172=) | gnomAD v4 |
| 15 | g.71813421C>T | CA491104267 | NR2E3 | c.780C>T (p.Leu260=) c.516C>T (p.Leu172=) | dbSNP |
| 15 | g.71813422T>A | CA393036323 | NR2E3 | c.781T>A (p.Phe261Ile) c.517T>A (p.Phe173Ile) | |
| 15 | g.71813422T>C | CA393036325 | NR2E3 | c.781T>C (p.Phe261Leu) c.517T>C (p.Phe173Leu) | |
| 15 | g.71813422T>G | CA393036328 | NR2E3 | c.781T>G (p.Phe261Val) c.517T>G (p.Phe173Val) | |
| 15 | g.71813423_71813424del | CA2629294222 | NR2E3 | c.782_783del (p.Phe261SerfsTer?) c.518_519del (p.Phe173SerfsTer?) | gnomAD v4 |
| 15 | g.71813423T>A | CA393036333 | NR2E3 | c.782T>A (p.Phe261Tyr) c.518T>A (p.Phe173Tyr) | |
| 15 | g.71813423T>C | CA393036337 | NR2E3 | c.782T>C (p.Phe261Ser) c.518T>C (p.Phe173Ser) | |
| 15 | g.71813423T>G | CA393036341 | NR2E3 | c.782T>G (p.Phe261Cys) c.518T>G (p.Phe173Cys) | |
| 15 | g.71813424T>A | CA393036346 | NR2E3 | c.783T>A (p.Phe261Leu) c.519T>A (p.Phe173Leu) | |
| 15 | g.71813424T>C | CA491104287 | NR2E3 | c.783T>C (p.Phe261=) c.519T>C (p.Phe173=) | |
| 15 | g.71813424T>G | CA393036344 | NR2E3 | c.783T>G (p.Phe261Leu) c.519T>G (p.Phe173Leu) | |
| 15 | g.71813425C>A | CA393036350 | NR2E3 | c.784C>A (p.Leu262Ile) c.520C>A (p.Leu174Ile) | |
| 15 | g.71813425C>G | CA393036351 | NR2E3 | c.784C>G (p.Leu262Val) c.520C>G (p.Leu174Val) | |
| 15 | g.71813425C>T | CA393036355 | NR2E3 | c.784C>T (p.Leu262Phe) c.520C>T (p.Leu174Phe) | |
| 15 | g.71813426T>A | CA393036359 | NR2E3 | c.785T>A (p.Leu262His) c.521T>A (p.Leu174His) | gnomAD v4 |
| 15 | g.71813426T>C | CA393036368 | NR2E3 | c.785T>C (p.Leu262Pro) c.521T>C (p.Leu174Pro) | |
| 15 | g.71813426T>G | CA393036371 | NR2E3 | c.785T>G (p.Leu262Arg) c.521T>G (p.Leu174Arg) | |
| 15 | g.71813427C>A | CA491104326 | NR2E3 | c.786C>A (p.Leu262=) c.522C>A (p.Leu174=) | |
| 15 | g.71813427C>G | CA491104331 | NR2E3 | c.786C>G (p.Leu262=) c.522C>G (p.Leu174=) | |
| 15 | g.71813427C>T | CA491104322 | NR2E3 | c.786C>T (p.Leu262=) c.522C>T (p.Leu174=) | gnomAD v4 |
| 15 | g.71813428C>A | CA393036376 | NR2E3 | c.787C>A (p.Leu263Ile) c.523C>A (p.Leu175Ile) | |
| 15 | g.71813428C>G | CA393036384 | NR2E3 | c.787C>G (p.Leu263Val) c.523C>G (p.Leu175Val) | gnomAD v4 |
| 15 | g.71813428C>T | CA393036381 | NR2E3 | c.787C>T (p.Leu263Phe) c.523C>T (p.Leu175Phe) | |
| 15 | g.71813429T>A | CA393036389 | NR2E3 | c.788T>A (p.Leu263His) c.524T>A (p.Leu175His) | |
| 15 | g.71813429T>C | CA393036392 | NR2E3 | c.788T>C (p.Leu263Pro) c.524T>C (p.Leu175Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813429T>G | CA393036394 | NR2E3 | c.788T>G (p.Leu263Arg) c.524T>G (p.Leu175Arg) | |
| 15 | g.71813429T= | CA2186514573 | NR2E3 | c.788T= (p.Leu263=) c.524T= (p.Leu175=) | |
| 15 | g.71813430C>A | CA491104362 | NR2E3 | c.789C>A (p.Leu263=) c.525C>A (p.Leu175=) | gnomAD v4 |
| 15 | g.71813430C= | CA2186514574 | NR2E3 | c.789C= (p.Leu263=) c.525C= (p.Leu175=) | |
| 15 | g.71813430C>G | CA491104355 | NR2E3 | c.789C>G (p.Leu263=) c.525C>G (p.Leu175=) | |
| 15 | g.71813430C>T | CA7640402 | NR2E3 | c.789C>T (p.Leu263=) c.525C>T (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813431G>A | CA393036401 | NR2E3 | c.790G>A (p.Gly264Arg) c.526G>A (p.Gly176Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813431G>C | CA393036403 | NR2E3 | c.790G>C (p.Gly264Arg) c.526G>C (p.Gly176Arg) | |
| 15 | g.71813431G= | CA2186514575 | NR2E3 | c.790G= (p.Gly264=) c.526G= (p.Gly176=) | |
| 15 | g.71813431G>T | CA393036405 | NR2E3 | c.790G>T (p.Gly264Trp) c.526G>T (p.Gly176Trp) | gnomAD v4 |
| 15 | g.71813434del | CA2804685958 | NR2E3 | c.793del (p.Ala265ProfsTer?) c.529del (p.Ala177ProfsTer?) | |
| 15 | g.71813432G>A | CA7640403 | NR2E3 | c.791G>A (p.Gly264Glu) c.527G>A (p.Gly176Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813432G>C | CA393036412 | NR2E3 | c.791G>C (p.Gly264Ala) c.527G>C (p.Gly176Ala) | |
| 15 | g.71813432G= | CA2186514576 | NR2E3 | c.791G= (p.Gly264=) c.527G= (p.Gly176=) | |
| 15 | g.71813432G>T | CA393036414 | NR2E3 | c.791G>T (p.Gly264Val) c.527G>T (p.Gly176Val) | |
| 15 | g.71813433G>A | CA491104386 | NR2E3 | c.792G>A (p.Gly264=) c.528G>A (p.Gly176=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813433G>C | CA491104392 | NR2E3 | c.792G>C (p.Gly264=) c.528G>C (p.Gly176=) | |
| 15 | g.71813433G= | CA2186514577 | NR2E3 | c.792G= (p.Gly264=) c.528G= (p.Gly176=) | |
| 15 | g.71813433G>T | CA491104385 | NR2E3 | c.792G>T (p.Gly264=) c.528G>T (p.Gly176=) | |
| 15 | g.71813434G>A | CA393036417 | NR2E3 | c.793G>A (p.Ala265Thr) c.529G>A (p.Ala177Thr) | gnomAD v4 |
| 15 | g.71813434G>C | CA393036422 | NR2E3 | c.793G>C (p.Ala265Pro) c.529G>C (p.Ala177Pro) | dbSNP |
| 15 | g.71813434G= | CA2186514578 | NR2E3 | c.793G= (p.Ala265=) c.529G= (p.Ala177=) | |
| 15 | g.71813434G>T | CA393036420 | NR2E3 | c.793G>T (p.Ala265Ser) c.529G>T (p.Ala177Ser) | |
| 15 | g.71813435C>A | CA393036425 | NR2E3 | c.794C>A (p.Ala265Asp) c.530C>A (p.Ala177Asp) | |
| 15 | g.71813435C>G | CA393036430 | NR2E3 | c.794C>G (p.Ala265Gly) c.530C>G (p.Ala177Gly) | |
| 15 | g.71813435C>T | CA393036431 | NR2E3 | c.794C>T (p.Ala265Val) c.530C>T (p.Ala177Val) | |
| 15 | g.71813436C>A | CA491104407 | NR2E3 | c.795C>A (p.Ala265=) c.531C>A (p.Ala177=) | |
| 15 | g.71813436C= | CA2186514579 | NR2E3 | c.795C= (p.Ala265=) c.531C= (p.Ala177=) | |
| 15 | g.71813436C>G | CA491104409 | NR2E3 | c.795C>G (p.Ala265=) c.531C>G (p.Ala177=) | |
| 15 | g.71813436C>T | CA491104410 | NR2E3 | c.795C>T (p.Ala265=) c.531C>T (p.Ala177=) | dbSNP |
| 15 | g.71813437A>C | CA393036434 | NR2E3 | c.796A>C (p.Ile266Leu) c.532A>C (p.Ile178Leu) | |
| 15 | g.71813437A>G | CA393036437 | NR2E3 | c.796A>G (p.Ile266Val) c.532A>G (p.Ile178Val) | |
| 15 | g.71813437A>T | CA393036439 | NR2E3 | c.796A>T (p.Ile266Phe) c.532A>T (p.Ile178Phe) | |
| 15 | g.71813438T>A | CA393036443 | NR2E3 | c.797T>A (p.Ile266Asn) c.533T>A (p.Ile178Asn) | ClinVar dbSNP |
| 15 | g.71813438T>C | CA7640404 | NR2E3 | c.797T>C (p.Ile266Thr) c.533T>C (p.Ile178Thr) | dbSNP ExAC gnomAD v2 |
| 15 | g.71813438T>G | CA393036447 | NR2E3 | c.797T>G (p.Ile266Ser) c.533T>G (p.Ile178Ser) | |
| 15 | g.71813438T= | CA2186514580 | NR2E3 | c.797T= (p.Ile266=) c.533T= (p.Ile178=) | |
| 15 | g.71813439C>A | CA491104430 | NR2E3 | c.798C>A (p.Ile266=) c.534C>A (p.Ile178=) | |
| 15 | g.71813439C>G | CA393036451 | NR2E3 | c.798C>G (p.Ile266Met) c.534C>G (p.Ile178Met) | |
| 15 | g.71813439C>T | CA491104424 | NR2E3 | c.798C>T (p.Ile266=) c.534C>T (p.Ile178=) | ClinVar |
| 15 | g.71813440C>A | CA393036459 | NR2E3 | c.799C>A (p.Gln267Lys) c.535C>A (p.Gln179Lys) | |
| 15 | g.71813440C>G | CA393036458 | NR2E3 | c.799C>G (p.Gln267Glu) c.535C>G (p.Gln179Glu) | |
| 15 | g.71813440C>T | CA393036456 | NR2E3 | c.799C>T (p.Gln267Ter) c.535C>T (p.Gln179Ter) | |
| 15 | g.71813441A= | CA2186514581 | NR2E3 | c.800A= (p.Gln267=) c.536A= (p.Gln179=) | |
| 15 | g.71813441A>C | CA393036463 | NR2E3 | c.800A>C (p.Gln267Pro) c.536A>C (p.Gln179Pro) | |
| 15 | g.71813441A>G | CA393036465 | NR2E3 | c.800A>G (p.Gln267Arg) c.536A>G (p.Gln179Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813441A>T | CA393036468 | NR2E3 | c.800A>T (p.Gln267Leu) c.536A>T (p.Gln179Leu) | |
| 15 | g.71813442G>A | CA7640405 | NR2E3 | c.801G>A (p.Gln267=) c.537G>A (p.Gln179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71813442G>C | CA393036474 | NR2E3 | c.801G>C (p.Gln267His) c.537G>C (p.Gln179His) | |
| 15 | g.71813442G= | CA2186514582 | NR2E3 | c.801G= (p.Gln267=) c.537G= (p.Gln179=) | |
| 15 | g.71813442G>T | CA393036476 | NR2E3 | c.801G>T (p.Gln267His) c.537G>T (p.Gln179His) | |
| 15 | g.71813443T>A | CA393036481 | NR2E3 | c.802T>A (p.Trp268Arg) c.538T>A (p.Trp180Arg) | |
| 15 | g.71813443T>C | CA272575628 | NR2E3 | c.802T>C (p.Trp268Arg) c.538T>C (p.Trp180Arg) | dbSNP gnomAD v4 |
| 15 | g.71813443T>G | CA393036487 | NR2E3 | c.802T>G (p.Trp268Gly) c.538T>G (p.Trp180Gly) | |
| 15 | g.71813443T= | CA2186514583 | NR2E3 | c.802T= (p.Trp268=) c.538T= (p.Trp180=) | |
| 15 | g.71813444G>A | CA393036491 | NR2E3 | c.803G>A (p.Trp268Ter) c.539G>A (p.Trp180Ter) | ClinVar |
| 15 | g.71813444G>C | CA393036494 | NR2E3 | c.803G>C (p.Trp268Ser) c.539G>C (p.Trp180Ser) | gnomAD v4 |
| 15 | g.71813444G>T | CA393036497 | NR2E3 | c.803G>T (p.Trp268Leu) c.539G>T (p.Trp180Leu) | |
| 15 | g.71813445G>A | CA393036504 | NR2E3 | c.804G>A (p.Trp268Ter) c.540G>A (p.Trp180Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813445G>C | CA393036507 | NR2E3 | c.804G>C (p.Trp268Cys) c.540G>C (p.Trp180Cys) | |
| 15 | g.71813445G= | CA2186514584 | NR2E3 | c.804G= (p.Trp268=) c.540G= (p.Trp180=) | |
| 15 | g.71813445G>T | CA393036501 | NR2E3 | c.804G>T (p.Trp268Cys) c.540G>T (p.Trp180Cys) | |
| 15 | g.71813445_71813447delinsGTC | CA2186514585 | NR2E3 | c.804_806delinsGTC (p.Trp268=) c.540_542delinsGTC (p.Trp180=) | |
| 15 | g.71813446del | CA2629294250 | NR2E3 | c.805del (p.Ser269LeufsTer?) c.541del (p.Ser181LeufsTer?) | gnomAD v4 |
| 15 | g.71813446T>A | CA393036518 | NR2E3 | c.805T>A (p.Ser269Thr) c.541T>A (p.Ser181Thr) | |
| 15 | g.71813446T>C | CA393036511 | NR2E3 | c.805T>C (p.Ser269Pro) c.541T>C (p.Ser181Pro) | |
| 15 | g.71813446T>G | CA393036514 | NR2E3 | c.805T>G (p.Ser269Ala) c.541T>G (p.Ser181Ala) | |
| 15 | g.71813449_71813450del | CA916083437 | NR2E3 | c.808_809del (p.Leu270AlafsTer?) c.544_545del (p.Leu182AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813447C>A | CA272575630 | NR2E3 | c.806C>A (p.Ser269Tyr) c.542C>A (p.Ser181Tyr) | dbSNP |
| 15 | g.71813447C= | CA2186514586 | NR2E3 | c.806C= (p.Ser269=) c.542C= (p.Ser181=) | |
| 15 | g.71813447C>G | CA393036523 | NR2E3 | c.806C>G (p.Ser269Cys) c.542C>G (p.Ser181Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813447C>T | CA393036524 | NR2E3 | c.806C>T (p.Ser269Phe) c.542C>T (p.Ser181Phe) | |
| 15 | g.71813448T>A | CA491104513 | NR2E3 | c.807T>A (p.Ser269=) c.543T>A (p.Ser181=) | |
| 15 | g.71813448T>C | CA491104511 | NR2E3 | c.807T>C (p.Ser269=) c.543T>C (p.Ser181=) | |
| 15 | g.71813448T>G | CA491104491 | NR2E3 | c.807T>G (p.Ser269=) c.543T>G (p.Ser181=) | |
| 15 | g.71813449C>A | CA393036530 | NR2E3 | c.808C>A (p.Leu270Met) c.544C>A (p.Leu182Met) | |
| 15 | g.71813449C>G | CA393036533 | NR2E3 | c.808C>G (p.Leu270Val) c.544C>G (p.Leu182Val) | |
| 15 | g.71813449C>T | CA491104521 | NR2E3 | c.808C>T (p.Leu270=) c.544C>T (p.Leu182=) | |
| 15 | g.71813450T>A | CA393036536 | NR2E3 | c.809T>A (p.Leu270Gln) c.545T>A (p.Leu182Gln) | |
| 15 | g.71813450T>C | CA393036538 | NR2E3 | c.809T>C (p.Leu270Pro) c.545T>C (p.Leu182Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813450T>G | CA393036541 | NR2E3 | c.809T>G (p.Leu270Arg) c.545T>G (p.Leu182Arg) | |
| 15 | g.71813450T= | CA2186514587 | NR2E3 | c.809T= (p.Leu270=) c.545T= (p.Leu182=) | |
| 15 | g.71813451G>A | CA491104529 | NR2E3 | c.810G>A (p.Leu270=) c.546G>A (p.Leu182=) | gnomAD v4 |
| 15 | g.71813451G>C | CA491104538 | NR2E3 | c.810G>C (p.Leu270=) c.546G>C (p.Leu182=) | |
| 15 | g.71813451G>T | CA491104534 | NR2E3 | c.810G>T (p.Leu270=) c.546G>T (p.Leu182=) | |
| 15 | g.71813452C>A | CA393036544 | NR2E3 | c.811C>A (p.Pro271Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
| 15 | g.71813452C>G | CA393036548 | NR2E3 | c.811C>G (p.Pro271Ala) c.547C>G (p.Pro183Ala) | |
| 15 | g.71813452C>T | CA393036551 | NR2E3 | c.811C>T (p.Pro271Ser) c.547C>T (p.Pro183Ser) | |
| 15 | g.71813453C>A | CA393036560 | NR2E3 | c.812C>A (p.Pro271His) c.548C>A (p.Pro183His) | |
| 15 | g.71813453C= | CA2186514588 | NR2E3 | c.812C= (p.Pro271=) c.548C= (p.Pro183=) | |
| 15 | g.71813453C>G | CA393036555 | NR2E3 | c.812C>G (p.Pro271Arg) c.548C>G (p.Pro183Arg) | |
| 15 | g.71813453C>T | CA393036557 | NR2E3 | c.812C>T (p.Pro271Leu) c.548C>T (p.Pro183Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813454T>A | CA491104558 | NR2E3 | c.813T>A (p.Pro271=) c.549T>A (p.Pro183=) | |
| 15 | g.71813454T>C | CA7640406 | NR2E3 | c.813T>C (p.Pro271=) c.549T>C (p.Pro183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813454T>G | CA491104563 | NR2E3 | c.813T>G (p.Pro271=) c.549T>G (p.Pro183=) | |
| 15 | g.71813454T= | CA2186514589 | NR2E3 | c.813T= (p.Pro271=) c.549T= (p.Pro183=) | |
| 15 | g.71813455C>A | CA393036568 | NR2E3 | c.814C>A (p.Leu272Met) c.550C>A (p.Leu184Met) | |
| 15 | g.71813455C>G | CA393036571 | NR2E3 | c.814C>G (p.Leu272Val) c.550C>G (p.Leu184Val) | |
| 15 | g.71813455C>T | CA491104571 | NR2E3 | c.814C>T (p.Leu272=) c.550C>T (p.Leu184=) | |
| 15 | g.71813456T>A | CA393036575 | NR2E3 | c.815T>A (p.Leu272Gln) c.551T>A (p.Leu184Gln) | |
| 15 | g.71813456T>C | CA393036578 | NR2E3 | c.815T>C (p.Leu272Pro) c.551T>C (p.Leu184Pro) | |
| 15 | g.71813456T>G | CA393036580 | NR2E3 | c.815T>G (p.Leu272Arg) c.551T>G (p.Leu184Arg) | |
| 15 | g.71813457G>A | CA491104583 | NR2E3 | c.816G>A (p.Leu272=) c.552G>A (p.Leu184=) | |
| 15 | g.71813457G>C | CA491104589 | NR2E3 | c.816G>C (p.Leu272=) c.552G>C (p.Leu184=) | |
| 15 | g.71813457G>T | CA491104585 | NR2E3 | c.816G>T (p.Leu272=) c.552G>T (p.Leu184=) | |
| 15 | g.71813458G>A | CA393036581 | NR2E3 | c.817G>A (p.Asp273Asn) c.553G>A (p.Asp185Asn) | dbSNP gnomAD v2 |
| 15 | g.71813458G>C | CA393036582 | NR2E3 | c.817G>C (p.Asp273His) c.553G>C (p.Asp185His) | |
| 15 | g.71813458G= | CA2186514590 | NR2E3 | c.817G= (p.Asp273=) c.553G= (p.Asp185=) | |
| 15 | g.71813458G>T | CA393036583 | NR2E3 | c.817G>T (p.Asp273Tyr) c.553G>T (p.Asp185Tyr) | gnomAD v4 |
| 15 | g.71813459A>C | CA393036585 | NR2E3 | c.818A>C (p.Asp273Ala) c.554A>C (p.Asp185Ala) | |
| 15 | g.71813459A>G | CA393036586 | NR2E3 | c.818A>G (p.Asp273Gly) c.554A>G (p.Asp185Gly) | gnomAD v4 |
| 15 | g.71813459A>T | CA393036588 | NR2E3 | c.818A>T (p.Asp273Val) c.554A>T (p.Asp185Val) | |
| 15 | g.71813460C>A | CA393036591 | NR2E3 | c.819C>A (p.Asp273Glu) c.555C>A (p.Asp185Glu) | dbSNP |
| 15 | g.71813460C= | CA2186514591 | NR2E3 | c.819C= (p.Asp273=) c.555C= (p.Asp185=) | |
| 15 | g.71813460C>G | CA393036594 | NR2E3 | c.819C>G (p.Asp273Glu) c.555C>G (p.Asp185Glu) | |
| 15 | g.71813460C>T | CA491104609 | NR2E3 | c.819C>T (p.Asp273=) c.555C>T (p.Asp185=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.71813461A>C | CA393036600 | NR2E3 | c.820A>C (p.Ser274Arg) c.556A>C (p.Ser186Arg) | |
| 15 | g.71813461A>G | CA393036606 | NR2E3 | c.820A>G (p.Ser274Gly) c.556A>G (p.Ser186Gly) | |
| 15 | g.71813461A>T | CA393036608 | NR2E3 | c.820A>T (p.Ser274Cys) c.556A>T (p.Ser186Cys) | |
| 15 | g.71813462G>A | CA393036612 | NR2E3 | c.821G>A (p.Ser274Asn) c.557G>A (p.Ser186Asn) | gnomAD v4 |
| 15 | g.71813462G>C | CA393036615 | NR2E3 | c.821G>C (p.Ser274Thr) c.557G>C (p.Ser186Thr) | |
| 15 | g.71813462G>T | CA393036621 | NR2E3 | c.821G>T (p.Ser274Ile) c.557G>T (p.Ser186Ile) | |
| 15 | g.71813463C>A | CA393036625 | NR2E3 | c.822C>A (p.Ser274Arg) c.558C>A (p.Ser186Arg) | |
| 15 | g.71813463C= | CA2186514592 | NR2E3 | c.822C= (p.Ser274=) c.558C= (p.Ser186=) | |
| 15 | g.71813463C>G | CA393036628 | NR2E3 | c.822C>G (p.Ser274Arg) c.558C>G (p.Ser186Arg) | |
| 15 | g.71813463C>T | CA491104642 | NR2E3 | c.822C>T (p.Ser274=) c.558C>T (p.Ser186=) | dbSNP gnomAD v2 |
| 15 | g.71813464T>A | CA393036632 | NR2E3 | c.823T>A (p.Cys275Ser) c.559T>A (p.Cys187Ser) | |
| 15 | g.71813464T>C | CA393036635 | NR2E3 | c.823T>C (p.Cys275Arg) c.559T>C (p.Cys187Arg) | |
| 15 | g.71813464T>G | CA393036638 | NR2E3 | c.823T>G (p.Cys275Gly) c.559T>G (p.Cys187Gly) | |
| 15 | g.71813465G>A | CA393036641 | NR2E3 | c.824G>A (p.Cys275Tyr) c.560G>A (p.Cys187Tyr) | gnomAD v4 |
| 15 | g.71813465G>C | CA393036645 | NR2E3 | c.824G>C (p.Cys275Ser) c.560G>C (p.Cys187Ser) | gnomAD v4 |
| 15 | g.71813465G>T | CA393036648 | NR2E3 | c.824G>T (p.Cys275Phe) c.560G>T (p.Cys187Phe) | |
| 15 | g.71813466T>A | CA393036651 | NR2E3 | c.825T>A (p.Cys275Ter) c.561T>A (p.Cys187Ter) | |
| 15 | g.71813466T>C | CA491104655 | NR2E3 | c.825T>C (p.Cys275=) c.561T>C (p.Cys187=) | |
| 15 | g.71813466T>G | CA393036654 | NR2E3 | c.825T>G (p.Cys275Trp) c.561T>G (p.Cys187Trp) | |
| 15 | g.71813466_71813483delinsTCCTCTGCTGGCACCGCC | CA2186514593 | NR2E3 | c.825_842delinsTCCTCTGCTGGCACCGCC (p.Cys275=) c.561_578delinsTCCTCTGCTGGCACCGCC (p.Cys187=) | |
| 15 | g.71813467C>A | CA393036658 | NR2E3 | c.826C>A (p.Pro276Thr) c.562C>A (p.Pro188Thr) | |
| 15 | g.71813467C= | CA2186514594 | NR2E3 | c.826C= (p.Pro276=) c.562C= (p.Pro188=) | |
| 15 | g.71813467C>G | CA393036660 | NR2E3 | c.826C>G (p.Pro276Ala) c.562C>G (p.Pro188Ala) | |
| 15 | g.71813467C>T | CA393036663 | NR2E3 | c.826C>T (p.Pro276Ser) c.562C>T (p.Pro188Ser) | dbSNP gnomAD v2 |
| 15 | g.71813468_71813484del | CA715430921 | NR2E3 | c.827_843del (p.Pro276ArgfsTer?) c.563_579del (p.Pro188ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71813468C>A | CA393036667 | NR2E3 | c.827C>A (p.Pro276His) c.563C>A (p.Pro188His) | |
| 15 | g.71813468C>G | CA393036671 | NR2E3 | c.827C>G (p.Pro276Arg) c.563C>G (p.Pro188Arg) | |
| 15 | g.71813468C>T | CA393036674 | NR2E3 | c.827C>T (p.Pro276Leu) c.563C>T (p.Pro188Leu) | |
| 15 | g.71813469T>A | CA491104681 | NR2E3 | c.828T>A (p.Pro276=) c.564T>A (p.Pro188=) | |
| 15 | g.71813469T>C | CA491104679 | NR2E3 | c.828T>C (p.Pro276=) c.564T>C (p.Pro188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.71813469T>G | CA491104677 | NR2E3 | c.828T>G (p.Pro276=) c.564T>G (p.Pro188=) | |
| 15 | g.71813469T= | CA2186514595 | NR2E3 | c.828T= (p.Pro276=) c.564T= (p.Pro188=) | |
| 15 | g.71813470C>A | CA393036680 | NR2E3 | c.829C>A (p.Leu277Met) c.565C>A (p.Leu189Met) | |
| 15 | g.71813470C>G | CA393036683 | NR2E3 | c.829C>G (p.Leu277Val) c.565C>G (p.Leu189Val) | gnomAD v4 |
| 15 | g.71813470C>T | CA491104691 | NR2E3 | c.829C>T (p.Leu277=) c.565C>T (p.Leu189=) | ClinVar gnomAD v4 |
| 15 | g.71813471T>A | CA393036687 | NR2E3 | c.830T>A (p.Leu277Gln) c.566T>A (p.Leu189Gln) | |
| 15 | g.71813471T>C | CA393036690 | NR2E3 | c.830T>C (p.Leu277Pro) c.566T>C (p.Leu189Pro) | |
| 15 | g.71813471T>G | CA393036695 | NR2E3 | c.830T>G (p.Leu277Arg) c.566T>G (p.Leu189Arg) | |
| 15 | g.71813472G>A | CA491104701 | NR2E3 | c.831G>A (p.Leu277=) c.567G>A (p.Leu189=) | |
| 15 | g.71813472G>C | CA491104697 | NR2E3 | c.831G>C (p.Leu277=) c.567G>C (p.Leu189=) | |
| 15 | g.71813472G>T | CA491104696 | NR2E3 | c.831G>T (p.Leu277=) c.567G>T (p.Leu189=) | |
| 15 | g.71813473C>A | CA393036696 | NR2E3 | c.832C>A (p.Leu278Met) c.568C>A (p.Leu190Met) | dbSNP gnomAD v2 |
| 15 | g.71813473C= | CA2186514596 | NR2E3 | c.832C= (p.Leu278=) c.568C= (p.Leu190=) | |
| 15 | g.71813473C>G | CA393036697 | NR2E3 | c.832C>G (p.Leu278Val) c.568C>G (p.Leu190Val) | |
| 15 | g.71813473C>T | CA491104705 | NR2E3 | c.832C>T (p.Leu278=) c.568C>T (p.Leu190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71813474T>A | CA393036703 | NR2E3 | c.833T>A (p.Leu278Gln) c.569T>A (p.Leu190Gln) | |
| 15 | g.71813474T>C | CA393036706 | NR2E3 | c.833T>C (p.Leu278Pro) c.569T>C (p.Leu190Pro) | ClinVar gnomAD v4 |
| 15 | g.71813474T>G | CA393036700 | NR2E3 | c.833T>G (p.Leu278Arg) c.569T>G (p.Leu190Arg) | |
| 15 | g.71813475G>A | CA491104707 | NR2E3 | c.834G>A (p.Leu278=) c.570G>A (p.Leu190=) | dbSNP gnomAD v2 |
| 15 | g.71813475G>C | CA491104710 | NR2E3 | c.834G>C (p.Leu278=) c.570G>C (p.Leu190=) | |
| 15 | g.71813475G= | CA2186514597 | NR2E3 | c.834G= (p.Leu278=) c.570G= (p.Leu190=) | |
| 15 | g.71813475G>T | CA491104708 | NR2E3 | c.834G>T (p.Leu278=) c.570G>T (p.Leu190=) | |
| 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 |