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 |
|---|---|---|---|---|---|
| 4 | g.110618570A= | CA1485098120 | PITX2 | c.303T= (p.His101=) c.428T= (p.Met143=) n.496T= n.500T= c.509T= (p.Met170=) n.572T= c.530T= (p.Met177=) n.461T= c.371T= (p.Met124=) n.836T= n.257T= c.176T= (p.Met59=) | |
| 4 | g.110618570A>C | CA357984214 | PITX2 | c.303T>G (p.His101Gln) c.428T>G (p.Met143Arg) n.496T>G n.500T>G c.509T>G (p.Met170Arg) n.572T>G c.530T>G (p.Met177Arg) n.461T>G c.371T>G (p.Met124Arg) n.836T>G n.257T>G c.176T>G (p.Met59Arg) | |
| 4 | g.110618570A>G | CA3045471 | PITX2 | c.303T>C (p.His101=) c.428T>C (p.Met143Thr) n.496T>C n.500T>C c.509T>C (p.Met170Thr) n.572T>C c.530T>C (p.Met177Thr) n.461T>C c.371T>C (p.Met124Thr) n.836T>C n.257T>C c.176T>C (p.Met59Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618570A>T | CA357984215 | PITX2 | c.303T>A (p.His101Gln) c.428T>A (p.Met143Lys) n.496T>A n.500T>A c.509T>A (p.Met170Lys) n.572T>A c.530T>A (p.Met177Lys) n.461T>A c.371T>A (p.Met124Lys) n.836T>A n.257T>A c.176T>A (p.Met59Lys) | gnomAD v4 |
| 4 | g.110618571T>A | CA357984216 | PITX2 | c.302A>T (p.His101Leu) c.427A>T (p.Met143Leu) n.495A>T n.499A>T c.508A>T (p.Met170Leu) n.571A>T c.529A>T (p.Met177Leu) n.460A>T c.370A>T (p.Met124Leu) n.835A>T n.256A>T c.175A>T (p.Met59Leu) | |
| 4 | g.110618571T>C | CA357984217 | PITX2 | c.302A>G (p.His101Arg) c.427A>G (p.Met143Val) n.495A>G n.499A>G c.508A>G (p.Met170Val) n.571A>G c.529A>G (p.Met177Val) n.460A>G c.370A>G (p.Met124Val) n.835A>G n.256A>G c.175A>G (p.Met59Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618571T>G | CA357984218 | PITX2 | c.302A>C (p.His101Pro) c.427A>C (p.Met143Leu) n.495A>C n.499A>C c.508A>C (p.Met170Leu) n.571A>C c.529A>C (p.Met177Leu) n.460A>C c.370A>C (p.Met124Leu) n.835A>C n.256A>C c.175A>C (p.Met59Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618571T= | CA1485098125 | PITX2 | c.302A= (p.His101=) c.427A= (p.Met143=) n.495A= n.499A= c.508A= (p.Met170=) n.571A= c.529A= (p.Met177=) n.460A= c.370A= (p.Met124=) n.835A= n.256A= c.175A= (p.Met59=) | |
| 4 | g.110618571_110618574delinsTGTC | CA1485098123 | PITX2 | c.299_302delinsGACA (p.Arg100=) c.424_427delinsGACA (p.Asp142=) n.492_495delinsGACA n.496_499delinsGACA c.505_508delinsGACA (p.Asp169=) n.568_571delinsGACA c.526_529delinsGACA (p.Asp176=) n.457_460delinsGACA c.367_370delinsGACA (p.Asp123=) n.832_835delinsGACA n.253_256delinsGACA c.172_175delinsGACA (p.Asp58=) | |
| 4 | g.110618572G>A | CA357984219 | PITX2 | c.301C>T (p.His101Tyr) c.426C>T (p.Asp142=) n.494C>T n.498C>T c.507C>T (p.Asp169=) n.570C>T c.528C>T (p.Asp176=) n.459C>T c.369C>T (p.Asp123=) n.834C>T n.255C>T c.174C>T (p.Asp58=) | gnomAD v4 |
| 4 | g.110618572G>C | CA357984220 | PITX2 | c.301C>G (p.His101Asp) c.426C>G (p.Asp142Glu) n.494C>G n.498C>G c.507C>G (p.Asp169Glu) n.570C>G c.528C>G (p.Asp176Glu) n.459C>G c.369C>G (p.Asp123Glu) n.834C>G n.255C>G c.174C>G (p.Asp58Glu) | |
| 4 | g.110618572G>T | CA357984221 | PITX2 | c.301C>A (p.His101Asn) c.426C>A (p.Asp142Glu) n.494C>A n.498C>A c.507C>A (p.Asp169Glu) n.570C>A c.528C>A (p.Asp176Glu) n.459C>A c.369C>A (p.Asp123Glu) n.834C>A n.255C>A c.174C>A (p.Asp58Glu) | |
| 4 | g.110618577_110618579del | CA785301517 | PITX2 | c.299_301del (p.Arg100del) c.424_426del (p.Asp142del) n.492_494del n.496_498del c.505_507del (p.Asp169del) n.568_570del c.526_528del (p.Asp176del) n.457_459del c.367_369del (p.Asp123del) n.832_834del n.253_255del c.172_174del (p.Asp58del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618573T>A | CA357984223 | PITX2 | c.300A>T (p.Arg100=) c.425A>T (p.Asp142Val) n.493A>T n.497A>T c.506A>T (p.Asp169Val) n.569A>T c.527A>T (p.Asp176Val) n.458A>T c.368A>T (p.Asp123Val) n.833A>T n.254A>T c.173A>T (p.Asp58Val) | COSMIC COSMIC |
| 4 | g.110618573T>C | CA357984224 | PITX2 | c.300A>G (p.Arg100=) c.425A>G (p.Asp142Gly) n.493A>G n.497A>G c.506A>G (p.Asp169Gly) n.569A>G c.527A>G (p.Asp176Gly) n.458A>G c.368A>G (p.Asp123Gly) n.833A>G n.254A>G c.173A>G (p.Asp58Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618573T>G | CA357984222 | PITX2 | c.300A>C (p.Arg100=) c.425A>C (p.Asp142Ala) n.493A>C n.497A>C c.506A>C (p.Asp169Ala) n.569A>C c.527A>C (p.Asp176Ala) n.458A>C c.368A>C (p.Asp123Ala) n.833A>C n.254A>C c.173A>C (p.Asp58Ala) | |
| 4 | g.110618573T= | CA1485098127 | PITX2 | c.300A= (p.Arg100=) c.425A= (p.Asp142=) n.493A= n.497A= c.506A= (p.Asp169=) n.569A= c.527A= (p.Asp176=) n.458A= c.368A= (p.Asp123=) n.833A= n.254A= c.173A= (p.Asp58=) | |
| 4 | g.110618574C>A | CA357984225 | PITX2 | c.299G>T (p.Arg100Leu) c.424G>T (p.Asp142Tyr) n.492G>T n.496G>T c.505G>T (p.Asp169Tyr) n.568G>T c.526G>T (p.Asp176Tyr) n.457G>T c.367G>T (p.Asp123Tyr) n.832G>T n.253G>T c.172G>T (p.Asp58Tyr) | |
| 4 | g.110618574C>G | CA357984227 | PITX2 | c.299G>C (p.Arg100Pro) c.424G>C (p.Asp142His) n.492G>C n.496G>C c.505G>C (p.Asp169His) n.568G>C c.526G>C (p.Asp176His) n.457G>C c.367G>C (p.Asp123His) n.832G>C n.253G>C c.172G>C (p.Asp58His) | |
| 4 | g.110618574C>T | CA357984226 | PITX2 | c.299G>A (p.Arg100Gln) c.424G>A (p.Asp142Asn) n.492G>A n.496G>A c.505G>A (p.Asp169Asn) n.568G>A c.526G>A (p.Asp176Asn) n.457G>A c.367G>A (p.Asp123Asn) n.832G>A n.253G>A c.172G>A (p.Asp58Asn) | gnomAD v4 |
| 4 | g.110618575del | CA2580071396 | PITX2 | c.298del (p.Arg100AspfsTer?) c.423del (p.Asp141GlufsTer?) n.491del n.495del c.504del (p.Asp168GlufsTer?) n.567del c.525del (p.Asp175GlufsTer?) n.456del c.366del (p.Asp122GlufsTer?) n.831del n.252del c.171del (p.Asp57GlufsTer?) | ClinVar |
| 4 | g.110618575G>A | CA104044416 | PITX2 | c.298C>T (p.Arg100Ter) c.423C>T (p.Asp141=) n.491C>T n.495C>T c.504C>T (p.Asp168=) n.567C>T c.525C>T (p.Asp175=) n.456C>T c.366C>T (p.Asp122=) n.831C>T n.252C>T c.171C>T (p.Asp57=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618575G>C | CA357984229 | PITX2 | c.298C>G (p.Arg100Gly) c.423C>G (p.Asp141Glu) n.491C>G n.495C>G c.504C>G (p.Asp168Glu) n.567C>G c.525C>G (p.Asp175Glu) n.456C>G c.366C>G (p.Asp122Glu) n.831C>G n.252C>G c.171C>G (p.Asp57Glu) | |
| 4 | g.110618575G= | CA1485098130 | PITX2 | c.298C= (p.Arg100=) c.423C= (p.Asp141=) n.491C= n.495C= c.504C= (p.Asp168=) n.567C= c.525C= (p.Asp175=) n.456C= c.366C= (p.Asp122=) n.831C= n.252C= c.171C= (p.Asp57=) | |
| 4 | g.110618575G>T | CA357984228 | PITX2 | c.298C>A (p.Arg100=) c.423C>A (p.Asp141Glu) n.491C>A n.495C>A c.504C>A (p.Asp168Glu) n.567C>A c.525C>A (p.Asp175Glu) n.456C>A c.366C>A (p.Asp122Glu) n.831C>A n.252C>A c.171C>A (p.Asp57Glu) | |
| 4 | g.110618576T>A | CA357984230 | PITX2 | c.297A>T (p.Arg99=) c.422A>T (p.Asp141Val) n.490A>T n.494A>T c.503A>T (p.Asp168Val) n.566A>T c.524A>T (p.Asp175Val) n.455A>T c.365A>T (p.Asp122Val) n.830A>T n.251A>T c.170A>T (p.Asp57Val) | |
| 4 | g.110618576T>C | CA357984232 | PITX2 | c.297A>G (p.Arg99=) c.422A>G (p.Asp141Gly) n.490A>G n.494A>G c.503A>G (p.Asp168Gly) n.566A>G c.524A>G (p.Asp175Gly) n.455A>G c.365A>G (p.Asp122Gly) n.830A>G n.251A>G c.170A>G (p.Asp57Gly) | dbSNP gnomAD v4 |
| 4 | g.110618576T>G | CA357984231 | PITX2 | c.297A>C (p.Arg99=) c.422A>C (p.Asp141Ala) n.490A>C n.494A>C c.503A>C (p.Asp168Ala) n.566A>C c.524A>C (p.Asp175Ala) n.455A>C c.365A>C (p.Asp122Ala) n.830A>C n.251A>C c.170A>C (p.Asp57Ala) | |
| 4 | g.110618577C>A | CA357984233 | PITX2 | c.296G>T (p.Arg99Leu) c.421G>T (p.Asp141Tyr) n.489G>T n.493G>T c.502G>T (p.Asp168Tyr) n.565G>T c.523G>T (p.Asp175Tyr) n.454G>T c.364G>T (p.Asp122Tyr) n.829G>T n.250G>T c.169G>T (p.Asp57Tyr) | dbSNP |
| 4 | g.110618577C= | CA1485098139 | PITX2 | c.296G= (p.Arg99=) c.421G= (p.Asp141=) n.489G= n.493G= c.502G= (p.Asp168=) n.565G= c.523G= (p.Asp175=) n.454G= c.364G= (p.Asp122=) n.829G= n.250G= c.169G= (p.Asp57=) | |
| 4 | g.110618577C>G | CA357984234 | PITX2 | c.296G>C (p.Arg99Pro) c.421G>C (p.Asp141His) n.489G>C n.493G>C c.502G>C (p.Asp168His) n.565G>C c.523G>C (p.Asp175His) n.454G>C c.364G>C (p.Asp122His) n.829G>C n.250G>C c.169G>C (p.Asp57His) | dbSNP |
| 4 | g.110618577C>T | CA357984235 | PITX2 | c.296G>A (p.Arg99Gln) c.421G>A (p.Asp141Asn) n.489G>A n.493G>A c.502G>A (p.Asp168Asn) n.565G>A c.523G>A (p.Asp175Asn) n.454G>A c.364G>A (p.Asp122Asn) n.829G>A n.250G>A c.169G>A (p.Asp57Asn) | gnomAD v4 |
| 4 | g.110618577_110618578delinsCG | CA1485098138 | PITX2 | c.295_296delinsCG (p.Arg99=) c.420_421delinsCG (p.Tyr140=) n.488_489delinsCG n.492_493delinsCG c.501_502delinsCG (p.Tyr167=) n.564_565delinsCG c.522_523delinsCG (p.Tyr174=) n.453_454delinsCG c.363_364delinsCG (p.Tyr121=) n.828_829delinsCG n.249_250delinsCG c.168_169delinsCG (p.Tyr56=) | |
| 4 | g.110618577_110618578delinsTT | CA1139658596 | PITX2 | c.295_296delinsAA (p.Arg99Lys) c.420_421delinsAA (p.Tyr140Ter) n.488_489delinsAA n.492_493delinsAA c.501_502delinsAA (p.Tyr167Ter) n.564_565delinsAA c.522_523delinsAA (p.Tyr174Ter) n.453_454delinsAA c.363_364delinsAA (p.Tyr121Ter) n.828_829delinsAA n.249_250delinsAA c.168_169delinsAA (p.Tyr56Ter) | ClinVar dbSNP |
| 4 | g.110618578G>A | CA104044418 | PITX2 | c.295C>T (p.Arg99Ter) c.420C>T (p.Tyr140=) n.488C>T n.492C>T c.501C>T (p.Tyr167=) n.564C>T c.522C>T (p.Tyr174=) n.453C>T c.363C>T (p.Tyr121=) n.828C>T n.249C>T c.168C>T (p.Tyr56=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618578G>C | CA357984236 | PITX2 | c.295C>G (p.Arg99Gly) c.420C>G (p.Tyr140Ter) n.488C>G n.492C>G c.501C>G (p.Tyr167Ter) n.564C>G c.522C>G (p.Tyr174Ter) n.453C>G c.363C>G (p.Tyr121Ter) n.828C>G n.249C>G c.168C>G (p.Tyr56Ter) | ClinVar dbSNP COSMIC COSMIC |
| 4 | g.110618578G= | CA1485098145 | PITX2 | c.295C= (p.Arg99=) c.420C= (p.Tyr140=) n.488C= n.492C= c.501C= (p.Tyr167=) n.564C= c.522C= (p.Tyr174=) n.453C= c.363C= (p.Tyr121=) n.828C= n.249C= c.168C= (p.Tyr56=) | |
| 4 | g.110618578G>T | CA357984237 | PITX2 | c.295C>A (p.Arg99=) c.420C>A (p.Tyr140Ter) n.488C>A n.492C>A c.501C>A (p.Tyr167Ter) n.564C>A c.522C>A (p.Tyr174Ter) n.453C>A c.363C>A (p.Tyr121Ter) n.828C>A n.249C>A c.168C>A (p.Tyr56Ter) | ClinVar |
| 4 | g.110618579T>A | CA357984238 | PITX2 | c.294A>T (p.Leu98=) c.419A>T (p.Tyr140Phe) n.487A>T n.491A>T c.500A>T (p.Tyr167Phe) n.563A>T c.521A>T (p.Tyr174Phe) n.452A>T c.362A>T (p.Tyr121Phe) n.827A>T n.248A>T c.167A>T (p.Tyr56Phe) | |
| 4 | g.110618579T>C | CA3045472 | PITX2 | c.294A>G (p.Leu98=) c.419A>G (p.Tyr140Cys) n.487A>G n.491A>G c.500A>G (p.Tyr167Cys) n.563A>G c.521A>G (p.Tyr174Cys) n.452A>G c.362A>G (p.Tyr121Cys) n.827A>G n.248A>G c.167A>G (p.Tyr56Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618579T>G | CA357984239 | PITX2 | c.294A>C (p.Leu98=) c.419A>C (p.Tyr140Ser) n.487A>C n.491A>C c.500A>C (p.Tyr167Ser) n.563A>C c.521A>C (p.Tyr174Ser) n.452A>C c.362A>C (p.Tyr121Ser) n.827A>C n.248A>C c.167A>C (p.Tyr56Ser) | |
| 4 | g.110618579T= | CA1485098147 | PITX2 | c.294A= (p.Leu98=) c.419A= (p.Tyr140=) n.487A= n.491A= c.500A= (p.Tyr167=) n.563A= c.521A= (p.Tyr174=) n.452A= c.362A= (p.Tyr121=) n.827A= n.248A= c.167A= (p.Tyr56=) | |
| 4 | g.110618580A>C | CA357984242 | PITX2 | c.293T>G (p.Leu98Arg) c.418T>G (p.Tyr140Asp) n.486T>G n.490T>G c.499T>G (p.Tyr167Asp) n.562T>G c.520T>G (p.Tyr174Asp) n.451T>G c.361T>G (p.Tyr121Asp) n.826T>G n.247T>G c.166T>G (p.Tyr56Asp) | |
| 4 | g.110618580A>G | CA357984241 | PITX2 | c.293T>C (p.Leu98Pro) c.418T>C (p.Tyr140His) n.486T>C n.490T>C c.499T>C (p.Tyr167His) n.562T>C c.520T>C (p.Tyr174His) n.451T>C c.361T>C (p.Tyr121His) n.826T>C n.247T>C c.166T>C (p.Tyr56His) | |
| 4 | g.110618580A>T | CA357984240 | PITX2 | c.293T>A (p.Leu98Gln) c.418T>A (p.Tyr140Asn) n.486T>A n.490T>A c.499T>A (p.Tyr167Asn) n.562T>A c.520T>A (p.Tyr174Asn) n.451T>A c.361T>A (p.Tyr121Asn) n.826T>A n.247T>A c.166T>A (p.Tyr56Asn) | |
| 4 | g.110618581G>A | CA440822271 | PITX2 | c.292C>T (p.Leu98=) c.417C>T (p.Pro139=) n.485C>T n.489C>T c.498C>T (p.Pro166=) n.561C>T c.519C>T (p.Pro173=) n.450C>T c.360C>T (p.Pro120=) n.825C>T n.246C>T c.165C>T (p.Pro55=) | dbSNP |
| 4 | g.110618581G>C | CA357984243 | PITX2 | c.292C>G (p.Leu98Val) c.417C>G (p.Pro139=) n.485C>G n.489C>G c.498C>G (p.Pro166=) n.561C>G c.519C>G (p.Pro173=) n.450C>G c.360C>G (p.Pro120=) n.825C>G n.246C>G c.165C>G (p.Pro55=) | |
| 4 | g.110618581G= | CA1485098149 | PITX2 | c.292C= (p.Leu98=) c.417C= (p.Pro139=) n.485C= n.489C= c.498C= (p.Pro166=) n.561C= c.519C= (p.Pro173=) n.450C= c.360C= (p.Pro120=) n.825C= n.246C= c.165C= (p.Pro55=) | |
| 4 | g.110618581G>T | CA357984244 | PITX2 | c.292C>A (p.Leu98Ile) c.417C>A (p.Pro139=) n.485C>A n.489C>A c.498C>A (p.Pro166=) n.561C>A c.519C>A (p.Pro173=) n.450C>A c.360C>A (p.Pro120=) n.825C>A n.246C>A c.165C>A (p.Pro55=) | |
| 4 | g.110618582G>A | CA357984245 | PITX2 | c.291C>T (p.Ala97=) c.416C>T (p.Pro139Leu) n.484C>T n.488C>T c.497C>T (p.Pro166Leu) n.560C>T c.518C>T (p.Pro173Leu) n.449C>T c.359C>T (p.Pro120Leu) n.824C>T n.245C>T c.164C>T (p.Pro55Leu) |