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 |
|---|---|---|---|---|---|
| 6 | g.137204354_137204355delinsTA | CA1666385240 | IFNGR1 | c.493_494delinsTA (p.Tyr165=) c.421_422delinsTA (p.Tyr141=) c.400_401delinsTA (p.Tyr134=) c.523_524delinsTA (p.Tyr175=) c.*422_*423delinsTA (n.*422_*423delinsTA) c.469_470delinsTA (p.Tyr157=) c.439_440delinsTA (p.Tyr147=) c.466_467delinsTA (p.Tyr156=) c.643_644delinsTA (n.643_644delinsTA) c.632_633delinsTA | |
| 6 | g.137204355del | CA204565 | IFNGR1 | c.493del (p.Tyr165MetfsTer2) c.421del (p.Tyr141MetfsTer2) c.400del (p.Tyr134MetfsTer2) c.523del (p.Tyr175MetfsTer2) c.*422del (n.*422del) c.469del (p.Tyr157MetfsTer2) c.439del (p.Tyr147MetfsTer2) c.466del (p.Tyr156MetfsTer2) c.643del (n.643del) c.632del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137204355A>C | CA365775234 | IFNGR1 | c.493T>G (p.Tyr165Asp) c.421T>G (p.Tyr141Asp) c.400T>G (p.Tyr134Asp) c.523T>G (p.Tyr175Asp) c.*422T>G (n.*422T>G) c.469T>G (p.Tyr157Asp) c.439T>G (p.Tyr147Asp) c.466T>G (p.Tyr156Asp) c.643T>G (n.643T>G) c.632T>G | |
| 6 | g.137204355A>G | CA365775232 | IFNGR1 | c.493T>C (p.Tyr165His) c.421T>C (p.Tyr141His) c.400T>C (p.Tyr134His) c.523T>C (p.Tyr175His) c.*422T>C (n.*422T>C) c.469T>C (p.Tyr157His) c.439T>C (p.Tyr147His) c.466T>C (p.Tyr156His) c.643T>C (n.643T>C) c.632T>C | |
| 6 | g.137204355A>T | CA365775233 | IFNGR1 | c.493T>A (p.Tyr165Asn) c.421T>A (p.Tyr141Asn) c.400T>A (p.Tyr134Asn) c.523T>A (p.Tyr175Asn) c.*422T>A (n.*422T>A) c.469T>A (p.Tyr157Asn) c.439T>A (p.Tyr147Asn) c.466T>A (p.Tyr156Asn) c.643T>A (n.643T>A) c.632T>A | |
| 6 | g.137204356C>A | CA452236781 | IFNGR1 | c.492G>T (p.Val164=) c.420G>T (p.Val140=) c.399G>T (p.Val133=) c.522G>T (p.Val174=) c.*421G>T (n.*421G>T) c.468G>T (p.Val156=) c.438G>T (p.Val146=) c.465G>T (p.Val155=) c.642G>T (n.642G>T) c.631G>T | |
| 6 | g.137204356C= | CA1666385242 | IFNGR1 | c.492G= (p.Val164=) c.420G= (p.Val140=) c.399G= (p.Val133=) c.522G= (p.Val174=) c.*421G= (n.*421G=) c.468G= (p.Val156=) c.438G= (p.Val146=) c.465G= (p.Val155=) c.642G= (n.642G=) c.631G= | |
| 6 | g.137204356C>G | CA452236782 | IFNGR1 | c.492G>C (p.Val164=) c.420G>C (p.Val140=) c.399G>C (p.Val133=) c.522G>C (p.Val174=) c.*421G>C (n.*421G>C) c.468G>C (p.Val156=) c.438G>C (p.Val146=) c.465G>C (p.Val155=) c.642G>C (n.642G>C) c.631G>C | |
| 6 | g.137204356C>T | CA4018958 | IFNGR1 | c.492G>A (p.Val164=) c.420G>A (p.Val140=) c.399G>A (p.Val133=) c.522G>A (p.Val174=) c.*421G>A (n.*421G>A) c.468G>A (p.Val156=) c.438G>A (p.Val146=) c.465G>A (p.Val155=) c.642G>A (n.642G>A) c.631G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137204357A>C | CA365775235 | IFNGR1 | c.491T>G (p.Val164Gly) c.419T>G (p.Val140Gly) c.398T>G (p.Val133Gly) c.521T>G (p.Val174Gly) c.*420T>G (n.*420T>G) c.467T>G (p.Val156Gly) c.437T>G (p.Val146Gly) c.464T>G (p.Val155Gly) c.641T>G (n.641T>G) c.630T>G | |
| 6 | g.137204357A>G | CA365775236 | IFNGR1 | c.491T>C (p.Val164Ala) c.419T>C (p.Val140Ala) c.398T>C (p.Val133Ala) c.521T>C (p.Val174Ala) c.*420T>C (n.*420T>C) c.467T>C (p.Val156Ala) c.437T>C (p.Val146Ala) c.464T>C (p.Val155Ala) c.641T>C (n.641T>C) c.630T>C | |
| 6 | g.137204357A>T | CA365775237 | IFNGR1 | c.491T>A (p.Val164Glu) c.419T>A (p.Val140Glu) c.398T>A (p.Val133Glu) c.521T>A (p.Val174Glu) c.*420T>A (n.*420T>A) c.467T>A (p.Val156Glu) c.437T>A (p.Val146Glu) c.464T>A (p.Val155Glu) c.641T>A (n.641T>A) c.630T>A | |
| 6 | g.137204358C>A | CA4018959 | IFNGR1 | c.490G>T (p.Val164Leu) c.418G>T (p.Val140Leu) c.397G>T (p.Val133Leu) c.520G>T (p.Val174Leu) c.*419G>T (n.*419G>T) c.466G>T (p.Val156Leu) c.436G>T (p.Val146Leu) c.463G>T (p.Val155Leu) c.640G>T (n.640G>T) c.629G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137204358C= | CA1666385243 | IFNGR1 | c.490G= (p.Val164=) c.418G= (p.Val140=) c.397G= (p.Val133=) c.520G= (p.Val174=) c.*419G= (n.*419G=) c.466G= (p.Val156=) c.436G= (p.Val146=) c.463G= (p.Val155=) c.640G= (n.640G=) c.629G= | |
| 6 | g.137204358C>G | CA365775238 | IFNGR1 | c.490G>C (p.Val164Leu) c.418G>C (p.Val140Leu) c.397G>C (p.Val133Leu) c.520G>C (p.Val174Leu) c.*419G>C (n.*419G>C) c.466G>C (p.Val156Leu) c.436G>C (p.Val146Leu) c.463G>C (p.Val155Leu) c.640G>C (n.640G>C) c.629G>C | |
| 6 | g.137204358C>T | CA148229762 | IFNGR1 | c.490G>A (p.Val164Met) c.418G>A (p.Val140Met) c.397G>A (p.Val133Met) c.520G>A (p.Val174Met) c.*419G>A (n.*419G>A) c.466G>A (p.Val156Met) c.436G>A (p.Val146Met) c.463G>A (p.Val155Met) c.640G>A (n.640G>A) c.629G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137204359A= | CA1666385244 | IFNGR1 | c.489T= (p.Asn163=) c.417T= (p.Asn139=) c.396T= (p.Asn132=) c.519T= (p.Asn173=) c.*418T= (n.*418T=) c.465T= (p.Asn155=) c.435T= (p.Asn145=) c.462T= (p.Asn154=) c.639T= (n.639T=) c.628T= | |
| 6 | g.137204359A>C | CA365775239 | IFNGR1 | c.489T>G (p.Asn163Lys) c.417T>G (p.Asn139Lys) c.396T>G (p.Asn132Lys) c.519T>G (p.Asn173Lys) c.*418T>G (n.*418T>G) c.465T>G (p.Asn155Lys) c.435T>G (p.Asn145Lys) c.462T>G (p.Asn154Lys) c.639T>G (n.639T>G) c.628T>G | |
| 6 | g.137204359A>G | CA452236783 | IFNGR1 | c.489T>C (p.Asn163=) c.417T>C (p.Asn139=) c.396T>C (p.Asn132=) c.519T>C (p.Asn173=) c.*418T>C (n.*418T>C) c.465T>C (p.Asn155=) c.435T>C (p.Asn145=) c.462T>C (p.Asn154=) c.639T>C (n.639T>C) c.628T>C | dbSNP |
| 6 | g.137204359A>T | CA365775240 | IFNGR1 | c.489T>A (p.Asn163Lys) c.417T>A (p.Asn139Lys) c.396T>A (p.Asn132Lys) c.519T>A (p.Asn173Lys) c.*418T>A (n.*418T>A) c.465T>A (p.Asn155Lys) c.435T>A (p.Asn145Lys) c.462T>A (p.Asn154Lys) c.639T>A (n.639T>A) c.628T>A | |
| 6 | g.137204360T>A | CA365775242 | IFNGR1 | c.488A>T (p.Asn163Ile) c.416A>T (p.Asn139Ile) c.395A>T (p.Asn132Ile) c.518A>T (p.Asn173Ile) c.*417A>T (n.*417A>T) c.464A>T (p.Asn155Ile) c.434A>T (p.Asn145Ile) c.461A>T (p.Asn154Ile) c.638A>T (n.638A>T) c.627A>T | |
| 6 | g.137204360T>C | CA4018960 | IFNGR1 | c.488A>G (p.Asn163Ser) c.416A>G (p.Asn139Ser) c.395A>G (p.Asn132Ser) c.518A>G (p.Asn173Ser) c.*417A>G (n.*417A>G) c.464A>G (p.Asn155Ser) c.434A>G (p.Asn145Ser) c.461A>G (p.Asn154Ser) c.638A>G (n.638A>G) c.627A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137204360T>G | CA365775241 | IFNGR1 | c.488A>C (p.Asn163Thr) c.416A>C (p.Asn139Thr) c.395A>C (p.Asn132Thr) c.518A>C (p.Asn173Thr) c.*417A>C (n.*417A>C) c.464A>C (p.Asn155Thr) c.434A>C (p.Asn145Thr) c.461A>C (p.Asn154Thr) c.638A>C (n.638A>C) c.627A>C | |
| 6 | g.137204360T= | CA1666385245 | IFNGR1 | c.488A= (p.Asn163=) c.416A= (p.Asn139=) c.395A= (p.Asn132=) c.518A= (p.Asn173=) c.*417A= (n.*417A=) c.464A= (p.Asn155=) c.434A= (p.Asn145=) c.461A= (p.Asn154=) c.638A= (n.638A=) c.627A= | |
| 6 | g.137204361T>A | CA365775243 | IFNGR1 | c.487A>T (p.Asn163Tyr) c.415A>T (p.Asn139Tyr) c.394A>T (p.Asn132Tyr) c.517A>T (p.Asn173Tyr) c.*416A>T (n.*416A>T) c.463A>T (p.Asn155Tyr) c.433A>T (p.Asn145Tyr) c.460A>T (p.Asn154Tyr) c.637A>T (n.637A>T) c.626A>T | |
| 6 | g.137204361T>C | CA4018961 | IFNGR1 | c.487A>G (p.Asn163Asp) c.415A>G (p.Asn139Asp) c.394A>G (p.Asn132Asp) c.517A>G (p.Asn173Asp) c.*416A>G (n.*416A>G) c.463A>G (p.Asn155Asp) c.433A>G (p.Asn145Asp) c.460A>G (p.Asn154Asp) c.637A>G (n.637A>G) c.626A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137204361T>G | CA365775244 | IFNGR1 | c.487A>C (p.Asn163His) c.415A>C (p.Asn139His) c.394A>C (p.Asn132His) c.517A>C (p.Asn173His) c.*416A>C (n.*416A>C) c.463A>C (p.Asn155His) c.433A>C (p.Asn145His) c.460A>C (p.Asn154His) c.637A>C (n.637A>C) c.626A>C | |
| 6 | g.137204361T= | CA1666385246 | IFNGR1 | c.487A= (p.Asn163=) c.415A= (p.Asn139=) c.394A= (p.Asn132=) c.517A= (p.Asn173=) c.*416A= (n.*416A=) c.463A= (p.Asn155=) c.433A= (p.Asn145=) c.460A= (p.Asn154=) c.637A= (n.637A=) c.626A= | |
| 6 | g.137204362G>A | CA452236784 | IFNGR1 | c.486C>T (p.Tyr162=) c.414C>T (p.Tyr138=) c.393C>T (p.Tyr131=) c.516C>T (p.Tyr172=) c.*415C>T (n.*415C>T) c.462C>T (p.Tyr154=) c.432C>T (p.Tyr144=) c.459C>T (p.Tyr153=) c.636C>T (n.636C>T) c.625C>T | |
| 6 | g.137204362G>C | CA365775245 | IFNGR1 | c.486C>G (p.Tyr162Ter) c.414C>G (p.Tyr138Ter) c.393C>G (p.Tyr131Ter) c.516C>G (p.Tyr172Ter) c.*415C>G (n.*415C>G) c.462C>G (p.Tyr154Ter) c.432C>G (p.Tyr144Ter) c.459C>G (p.Tyr153Ter) c.636C>G (n.636C>G) c.625C>G | |
| 6 | g.137204362G>T | CA365775246 | IFNGR1 | c.486C>A (p.Tyr162Ter) c.414C>A (p.Tyr138Ter) c.393C>A (p.Tyr131Ter) c.516C>A (p.Tyr172Ter) c.*415C>A (n.*415C>A) c.462C>A (p.Tyr154Ter) c.432C>A (p.Tyr144Ter) c.459C>A (p.Tyr153Ter) c.636C>A (n.636C>A) c.625C>A | gnomAD v4 |
| 6 | g.137204363T>A | CA365775249 | IFNGR1 | c.485A>T (p.Tyr162Phe) c.413A>T (p.Tyr138Phe) c.392A>T (p.Tyr131Phe) c.515A>T (p.Tyr172Phe) c.*414A>T (n.*414A>T) c.461A>T (p.Tyr154Phe) c.431A>T (p.Tyr144Phe) c.458A>T (p.Tyr153Phe) c.635A>T (n.635A>T) c.624A>T c.485A>T | |
| 6 | g.137204363T>C | CA365775247 | IFNGR1 | c.485A>G (p.Tyr162Cys) c.413A>G (p.Tyr138Cys) c.392A>G (p.Tyr131Cys) c.515A>G (p.Tyr172Cys) c.*414A>G (n.*414A>G) c.461A>G (p.Tyr154Cys) c.431A>G (p.Tyr144Cys) c.458A>G (p.Tyr153Cys) c.635A>G (n.635A>G) c.624A>G c.485A>G | COSMIC |
| 6 | g.137204363T>G | CA365775248 | IFNGR1 | c.485A>C (p.Tyr162Ser) c.413A>C (p.Tyr138Ser) c.392A>C (p.Tyr131Ser) c.515A>C (p.Tyr172Ser) c.*414A>C (n.*414A>C) c.461A>C (p.Tyr154Ser) c.431A>C (p.Tyr144Ser) c.458A>C (p.Tyr153Ser) c.635A>C (n.635A>C) c.624A>C c.485A>C | |
| 6 | g.137204364A>C | CA365775250 | IFNGR1 | c.484T>G (p.Tyr162Asp) c.412T>G (p.Tyr138Asp) c.391T>G (p.Tyr131Asp) c.514T>G (p.Tyr172Asp) c.*413T>G (n.*413T>G) c.460T>G (p.Tyr154Asp) c.430T>G (p.Tyr144Asp) c.457T>G (p.Tyr153Asp) c.634T>G (n.634T>G) c.623T>G c.484T>G | |
| 6 | g.137204364A>G | CA365775251 | IFNGR1 | c.484T>C (p.Tyr162His) c.412T>C (p.Tyr138His) c.391T>C (p.Tyr131His) c.514T>C (p.Tyr172His) c.*413T>C (n.*413T>C) c.460T>C (p.Tyr154His) c.430T>C (p.Tyr144His) c.457T>C (p.Tyr153His) c.634T>C (n.634T>C) c.623T>C c.484T>C | |
| 6 | g.137204364A>T | CA365775252 | IFNGR1 | c.484T>A (p.Tyr162Asn) c.412T>A (p.Tyr138Asn) c.391T>A (p.Tyr131Asn) c.514T>A (p.Tyr172Asn) c.*413T>A (n.*413T>A) c.460T>A (p.Tyr154Asn) c.430T>A (p.Tyr144Asn) c.457T>A (p.Tyr153Asn) c.634T>A (n.634T>A) c.623T>A c.484T>A | |
| 6 | g.137204365C>A | CA452236787 | IFNGR1 | c.483G>T (p.Val161=) c.411G>T (p.Val137=) c.390G>T (p.Val130=) c.513G>T (p.Val171=) c.*412G>T (n.*412G>T) c.459G>T (p.Val153=) c.429G>T (p.Val143=) c.456G>T (p.Val152=) c.633G>T (n.633G>T) c.622G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137204365C= | CA1666385247 | IFNGR1 | c.483G= (p.Val161=) c.411G= (p.Val137=) c.390G= (p.Val130=) c.513G= (p.Val171=) c.*412G= (n.*412G=) c.459G= (p.Val153=) c.429G= (p.Val143=) c.456G= (p.Val152=) c.633G= (n.633G=) c.622G= | |
| 6 | g.137204365C>G | CA452236786 | IFNGR1 | c.483G>C (p.Val161=) c.411G>C (p.Val137=) c.390G>C (p.Val130=) c.513G>C (p.Val171=) c.*412G>C (n.*412G>C) c.459G>C (p.Val153=) c.429G>C (p.Val143=) c.456G>C (p.Val152=) c.633G>C (n.633G>C) c.622G>C | |
| 6 | g.137204365C>T | CA452236785 | IFNGR1 | c.483G>A (p.Val161=) c.411G>A (p.Val137=) c.390G>A (p.Val130=) c.513G>A (p.Val171=) c.*412G>A (n.*412G>A) c.459G>A (p.Val153=) c.429G>A (p.Val143=) c.456G>A (p.Val152=) c.633G>A (n.633G>A) c.622G>A | dbSNP |
| 6 | g.137204366A= | CA1666385248 | IFNGR1 | c.482T= (p.Val161=) c.410T= (p.Val137=) c.389T= (p.Val130=) c.512T= (p.Val171=) c.*411T= (n.*411T=) c.458T= (p.Val153=) c.428T= (p.Val143=) c.455T= (p.Val152=) c.632T= (n.632T=) c.621T= | |
| 6 | g.137204366A>C | CA365775253 | IFNGR1 | c.482T>G (p.Val161Gly) c.410T>G (p.Val137Gly) c.389T>G (p.Val130Gly) c.512T>G (p.Val171Gly) c.*411T>G (n.*411T>G) c.458T>G (p.Val153Gly) c.428T>G (p.Val143Gly) c.455T>G (p.Val152Gly) c.632T>G (n.632T>G) c.621T>G | dbSNP |
| 6 | g.137204366A>G | CA365775254 | IFNGR1 | c.482T>C (p.Val161Ala) c.410T>C (p.Val137Ala) c.389T>C (p.Val130Ala) c.512T>C (p.Val171Ala) c.*411T>C (n.*411T>C) c.458T>C (p.Val153Ala) c.428T>C (p.Val143Ala) c.455T>C (p.Val152Ala) c.632T>C (n.632T>C) c.621T>C | |
| 6 | g.137204366A>T | CA365775255 | IFNGR1 | c.482T>A (p.Val161Glu) c.410T>A (p.Val137Glu) c.389T>A (p.Val130Glu) c.512T>A (p.Val171Glu) c.*411T>A (n.*411T>A) c.458T>A (p.Val153Glu) c.428T>A (p.Val143Glu) c.455T>A (p.Val152Glu) c.632T>A (n.632T>A) c.621T>A | gnomAD v4 |
| 6 | g.137204367C>A | CA365775257 | IFNGR1 | c.481G>T (p.Val161Leu) c.409G>T (p.Val137Leu) c.388G>T (p.Val130Leu) c.511G>T (p.Val171Leu) c.*410G>T (n.*410G>T) c.457G>T (p.Val153Leu) c.427G>T (p.Val143Leu) c.454G>T (p.Val152Leu) c.631G>T (n.631G>T) c.620G>T | ClinVar |
| 6 | g.137204367C>G | CA365775258 | IFNGR1 | c.481G>C (p.Val161Leu) c.409G>C (p.Val137Leu) c.388G>C (p.Val130Leu) c.511G>C (p.Val171Leu) c.*410G>C (n.*410G>C) c.457G>C (p.Val153Leu) c.427G>C (p.Val143Leu) c.454G>C (p.Val152Leu) c.631G>C (n.631G>C) c.620G>C | |
| 6 | g.137204367C>T | CA365775256 | IFNGR1 | c.481G>A (p.Val161Met) c.409G>A (p.Val137Met) c.388G>A (p.Val130Met) c.511G>A (p.Val171Met) c.*410G>A (n.*410G>A) c.457G>A (p.Val153Met) c.427G>A (p.Val143Met) c.454G>A (p.Val152Met) c.631G>A (n.631G>A) c.620G>A | gnomAD v4 |
| 6 | g.137204368C>A | CA365775259 | IFNGR1 | c.480G>T (p.Arg160Ser) c.408G>T (p.Arg136Ser) c.387G>T (p.Arg129Ser) c.510G>T (p.Arg170Ser) c.*409G>T (n.*409G>T) c.456G>T (p.Arg152Ser) c.426G>T (p.Arg142Ser) c.453G>T (p.Arg151Ser) c.630G>T (n.630G>T) c.619G>T | dbSNP |
| 6 | g.137204368C>G | CA365775260 | IFNGR1 | c.480G>C (p.Arg160Ser) c.408G>C (p.Arg136Ser) c.387G>C (p.Arg129Ser) c.510G>C (p.Arg170Ser) c.*409G>C (n.*409G>C) c.456G>C (p.Arg152Ser) c.426G>C (p.Arg142Ser) c.453G>C (p.Arg151Ser) c.630G>C (n.630G>C) c.619G>C |