WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110618420A>C | CA357983804 | PITX2 | c.453T>G (p.His151Gln) c.578T>G (p.Met193Arg) n.646T>G n.650T>G c.659T>G (p.Met220Arg) n.722T>G c.680T>G (p.Met227Arg) n.611T>G c.521T>G (p.Met174Arg) n.407T>G c.326T>G (p.Met109Arg) | |
| 4 | g.110618420A>G | CA357983805 | PITX2 | c.453T>C (p.His151=) c.578T>C (p.Met193Thr) n.646T>C n.650T>C c.659T>C (p.Met220Thr) n.722T>C c.680T>C (p.Met227Thr) n.611T>C c.521T>C (p.Met174Thr) n.407T>C c.326T>C (p.Met109Thr) | |
| 4 | g.110618420A>T | CA357983806 | PITX2 | c.453T>A (p.His151Gln) c.578T>A (p.Met193Lys) n.646T>A n.650T>A c.659T>A (p.Met220Lys) n.722T>A c.680T>A (p.Met227Lys) n.611T>A c.521T>A (p.Met174Lys) n.407T>A c.326T>A (p.Met109Lys) | |
| 4 | g.110618421T>A | CA357983808 | PITX2 | c.452A>T (p.His151Leu) c.577A>T (p.Met193Leu) n.645A>T n.649A>T c.658A>T (p.Met220Leu) n.721A>T c.679A>T (p.Met227Leu) n.610A>T c.520A>T (p.Met174Leu) n.406A>T c.325A>T (p.Met109Leu) | |
| 4 | g.110618421T>C | CA357983809 | PITX2 | c.452A>G (p.His151Arg) c.577A>G (p.Met193Val) n.645A>G n.649A>G c.658A>G (p.Met220Val) n.721A>G c.679A>G (p.Met227Val) n.610A>G c.520A>G (p.Met174Val) n.406A>G c.325A>G (p.Met109Val) | gnomAD v4 |
| 4 | g.110618421T>G | CA357983807 | PITX2 | c.452A>C (p.His151Pro) c.577A>C (p.Met193Leu) n.645A>C n.649A>C c.658A>C (p.Met220Leu) n.721A>C c.679A>C (p.Met227Leu) n.610A>C c.520A>C (p.Met174Leu) n.406A>C c.325A>C (p.Met109Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618421T= | CA1485097873 | PITX2 | c.452A= (p.His151=) c.577A= (p.Met193=) n.645A= n.649A= c.658A= (p.Met220=) n.721A= c.679A= (p.Met227=) n.610A= c.520A= (p.Met174=) n.406A= c.325A= (p.Met109=) | |
| 4 | g.110618422G>A | CA3045443 | PITX2 | c.451C>T (p.His151Tyr) c.576C>T (p.Ser192=) n.644C>T n.648C>T c.657C>T (p.Ser219=) n.720C>T c.678C>T (p.Ser226=) n.609C>T c.519C>T (p.Ser173=) n.405C>T c.324C>T (p.Ser108=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618422G>C | CA357983810 | PITX2 | c.451C>G (p.His151Asp) c.576C>G (p.Ser192=) n.644C>G n.648C>G c.657C>G (p.Ser219=) n.720C>G c.678C>G (p.Ser226=) n.609C>G c.519C>G (p.Ser173=) n.405C>G c.324C>G (p.Ser108=) | dbSNP |
| 4 | g.110618422G= | CA1485097876 | PITX2 | c.451C= (p.His151=) c.576C= (p.Ser192=) n.644C= n.648C= c.657C= (p.Ser219=) n.720C= c.678C= (p.Ser226=) n.609C= c.519C= (p.Ser173=) n.405C= c.324C= (p.Ser108=) | |
| 4 | g.110618422G>T | CA357983811 | PITX2 | c.451C>A (p.His151Asn) c.576C>A (p.Ser192=) n.644C>A n.648C>A c.657C>A (p.Ser219=) n.720C>A c.678C>A (p.Ser226=) n.609C>A c.519C>A (p.Ser173=) n.405C>A c.324C>A (p.Ser108=) | |
| 4 | g.110618423G>A | CA357983812 | PITX2 | c.450C>T (p.Val150=) c.575C>T (p.Ser192Phe) n.643C>T n.647C>T c.656C>T (p.Ser219Phe) n.719C>T c.677C>T (p.Ser226Phe) n.608C>T c.518C>T (p.Ser173Phe) n.404C>T c.323C>T (p.Ser108Phe) | gnomAD v4 |
| 4 | g.110618423G>C | CA357983813 | PITX2 | c.450C>G (p.Val150=) c.575C>G (p.Ser192Cys) n.643C>G n.647C>G c.656C>G (p.Ser219Cys) n.719C>G c.677C>G (p.Ser226Cys) n.608C>G c.518C>G (p.Ser173Cys) n.404C>G c.323C>G (p.Ser108Cys) | |
| 4 | g.110618423G>T | CA357983814 | PITX2 | c.450C>A (p.Val150=) c.575C>A (p.Ser192Tyr) n.643C>A n.647C>A c.656C>A (p.Ser219Tyr) n.719C>A c.677C>A (p.Ser226Tyr) n.608C>A c.518C>A (p.Ser173Tyr) n.404C>A c.323C>A (p.Ser108Tyr) | |
| 4 | g.110618424A>C | CA357983817 | PITX2 | c.449T>G (p.Val150Gly) c.574T>G (p.Ser192Ala) n.642T>G n.646T>G c.655T>G (p.Ser219Ala) n.718T>G c.676T>G (p.Ser226Ala) n.607T>G c.517T>G (p.Ser173Ala) n.403T>G c.322T>G (p.Ser108Ala) | |
| 4 | g.110618424A>G | CA357983816 | PITX2 | c.449T>C (p.Val150Ala) c.574T>C (p.Ser192Pro) n.642T>C n.646T>C c.655T>C (p.Ser219Pro) n.718T>C c.676T>C (p.Ser226Pro) n.607T>C c.517T>C (p.Ser173Pro) n.403T>C c.322T>C (p.Ser108Pro) | |
| 4 | g.110618424A>T | CA357983815 | PITX2 | c.449T>A (p.Val150Asp) c.574T>A (p.Ser192Thr) n.642T>A n.646T>A c.655T>A (p.Ser219Thr) n.718T>A c.676T>A (p.Ser226Thr) n.607T>A c.517T>A (p.Ser173Thr) n.403T>A c.322T>A (p.Ser108Thr) | |
| 4 | g.110618425C>A | CA357983818 | PITX2 | c.448G>T (p.Val150Phe) c.573G>T (p.Ser191=) n.641G>T n.645G>T c.654G>T (p.Ser218=) n.717G>T c.675G>T (p.Ser225=) n.606G>T c.516G>T (p.Ser172=) n.402G>T c.321G>T (p.Ser107=) | |
| 4 | g.110618425C= | CA1485097879 | PITX2 | c.448G= (p.Val150=) c.573G= (p.Ser191=) n.641G= n.645G= c.654G= (p.Ser218=) n.717G= c.675G= (p.Ser225=) n.606G= c.516G= (p.Ser172=) n.402G= c.321G= (p.Ser107=) | |
| 4 | g.110618425C>G | CA357983819 | PITX2 | c.448G>C (p.Val150Leu) c.573G>C (p.Ser191=) n.641G>C n.645G>C c.654G>C (p.Ser218=) n.717G>C c.675G>C (p.Ser225=) n.606G>C c.516G>C (p.Ser172=) n.402G>C c.321G>C (p.Ser107=) | |
| 4 | g.110618425C>T | CA3045444 | PITX2 | c.448G>A (p.Val150Ile) c.573G>A (p.Ser191=) n.641G>A n.645G>A c.654G>A (p.Ser218=) n.717G>A c.675G>A (p.Ser225=) n.606G>A c.516G>A (p.Ser172=) n.402G>A c.321G>A (p.Ser107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618426G>A | CA357983820 | PITX2 | c.447C>T (p.Leu149=) c.572C>T (p.Ser191Leu) n.640C>T n.644C>T c.653C>T (p.Ser218Leu) n.716C>T c.674C>T (p.Ser225Leu) n.605C>T c.515C>T (p.Ser172Leu) n.401C>T c.320C>T (p.Ser107Leu) | |
| 4 | g.110618426G>C | CA357983821 | PITX2 | c.447C>G (p.Leu149=) c.572C>G (p.Ser191Trp) n.640C>G n.644C>G c.653C>G (p.Ser218Trp) n.716C>G c.674C>G (p.Ser225Trp) n.605C>G c.515C>G (p.Ser172Trp) n.401C>G c.320C>G (p.Ser107Trp) | |
| 4 | g.110618426G>T | CA357983822 | PITX2 | c.447C>A (p.Leu149=) c.572C>A (p.Ser191Ter) n.640C>A n.644C>A c.653C>A (p.Ser218Ter) n.716C>A c.674C>A (p.Ser225Ter) n.605C>A c.515C>A (p.Ser172Ter) n.401C>A c.320C>A (p.Ser107Ter) | |
| 4 | g.110618427A= | CA1485097882 | PITX2 | c.446T= (p.Leu149=) c.571T= (p.Ser191=) n.639T= n.643T= c.652T= (p.Ser218=) n.715T= c.673T= (p.Ser225=) n.604T= c.514T= (p.Ser172=) n.400T= c.319T= (p.Ser107=) | |
| 4 | g.110618427A>C | CA357983823 | PITX2 | c.446T>G (p.Leu149Arg) c.571T>G (p.Ser191Ala) n.639T>G n.643T>G c.652T>G (p.Ser218Ala) n.715T>G c.673T>G (p.Ser225Ala) n.604T>G c.514T>G (p.Ser172Ala) n.400T>G c.319T>G (p.Ser107Ala) | |
| 4 | g.110618427A>G | CA3045445 | PITX2 | c.446T>C (p.Leu149Pro) c.571T>C (p.Ser191Pro) n.639T>C n.643T>C c.652T>C (p.Ser218Pro) n.715T>C c.673T>C (p.Ser225Pro) n.604T>C c.514T>C (p.Ser172Pro) n.400T>C c.319T>C (p.Ser107Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618427A>T | CA357983824 | PITX2 | c.446T>A (p.Leu149His) c.571T>A (p.Ser191Thr) n.639T>A n.643T>A c.652T>A (p.Ser218Thr) n.715T>A c.673T>A (p.Ser225Thr) n.604T>A c.514T>A (p.Ser172Thr) n.400T>A c.319T>A (p.Ser107Thr) | |
| 4 | g.110618428G>A | CA357983825 | PITX2 | c.445C>T (p.Leu149Phe) c.570C>T (p.Ile190=) n.638C>T n.642C>T c.651C>T (p.Ile217=) n.714C>T c.672C>T (p.Ile224=) n.603C>T c.513C>T (p.Ile171=) n.399C>T c.318C>T (p.Ile106=) | |
| 4 | g.110618428G>C | CA357983826 | PITX2 | c.445C>G (p.Leu149Val) c.570C>G (p.Ile190Met) n.638C>G n.642C>G c.651C>G (p.Ile217Met) n.714C>G c.672C>G (p.Ile224Met) n.603C>G c.513C>G (p.Ile171Met) n.399C>G c.318C>G (p.Ile106Met) | |
| 4 | g.110618428G>T | CA357983827 | PITX2 | c.445C>A (p.Leu149Ile) c.570C>A (p.Ile190=) n.638C>A n.642C>A c.651C>A (p.Ile217=) n.714C>A c.672C>A (p.Ile224=) n.603C>A c.513C>A (p.Ile171=) n.399C>A c.318C>A (p.Ile106=) | gnomAD v4 COSMIC COSMIC |
| 4 | g.110618429A= | CA1485097884 | PITX2 | c.444T= (p.Tyr148=) c.569T= (p.Ile190=) n.637T= n.641T= c.650T= (p.Ile217=) n.713T= c.671T= (p.Ile224=) n.602T= c.512T= (p.Ile171=) n.398T= c.317T= (p.Ile106=) | |
| 4 | g.110618429A>C | CA3045446 | PITX2 | c.444T>G (p.Tyr148Ter) c.569T>G (p.Ile190Ser) n.637T>G n.641T>G c.650T>G (p.Ile217Ser) n.713T>G c.671T>G (p.Ile224Ser) n.602T>G c.512T>G (p.Ile171Ser) n.398T>G c.317T>G (p.Ile106Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618429A>G | CA357983828 | PITX2 | c.444T>C (p.Tyr148=) c.569T>C (p.Ile190Thr) n.637T>C n.641T>C c.650T>C (p.Ile217Thr) n.713T>C c.671T>C (p.Ile224Thr) n.602T>C c.512T>C (p.Ile171Thr) n.398T>C c.317T>C (p.Ile106Thr) | |
| 4 | g.110618429A>T | CA357983829 | PITX2 | c.444T>A (p.Tyr148Ter) c.569T>A (p.Ile190Asn) n.637T>A n.641T>A c.650T>A (p.Ile217Asn) n.713T>A c.671T>A (p.Ile224Asn) n.602T>A c.512T>A (p.Ile171Asn) n.398T>A c.317T>A (p.Ile106Asn) | |
| 4 | g.110618430T>A | CA357983830 | PITX2 | c.443A>T (p.Tyr148Phe) c.568A>T (p.Ile190Phe) n.636A>T n.640A>T c.649A>T (p.Ile217Phe) n.712A>T c.670A>T (p.Ile224Phe) n.601A>T c.511A>T (p.Ile171Phe) n.397A>T c.316A>T (p.Ile106Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618430T>C | CA3045447 | PITX2 | c.443A>G (p.Tyr148Cys) c.568A>G (p.Ile190Val) n.636A>G n.640A>G c.649A>G (p.Ile217Val) n.712A>G c.670A>G (p.Ile224Val) n.601A>G c.511A>G (p.Ile171Val) n.397A>G c.316A>G (p.Ile106Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618430T>G | CA357983831 | PITX2 | c.443A>C (p.Tyr148Ser) c.568A>C (p.Ile190Leu) n.636A>C n.640A>C c.649A>C (p.Ile217Leu) n.712A>C c.670A>C (p.Ile224Leu) n.601A>C c.511A>C (p.Ile171Leu) n.397A>C c.316A>C (p.Ile106Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618430T= | CA1485097888 | PITX2 | c.443A= (p.Tyr148=) c.568A= (p.Ile190=) n.636A= n.640A= c.649A= (p.Ile217=) n.712A= c.670A= (p.Ile224=) n.601A= c.511A= (p.Ile171=) n.397A= c.316A= (p.Ile106=) | |
| 4 | g.110618431A>C | CA357983832 | PITX2 | c.442T>G (p.Tyr148Asp) c.567T>G (p.Ser189=) n.635T>G n.639T>G c.648T>G (p.Ser216=) n.711T>G c.669T>G (p.Ser223=) n.600T>G c.510T>G (p.Ser170=) n.396T>G c.315T>G (p.Ser105=) | |
| 4 | g.110618431A>G | CA357983833 | PITX2 | c.442T>C (p.Tyr148His) c.567T>C (p.Ser189=) n.635T>C n.639T>C c.648T>C (p.Ser216=) n.711T>C c.669T>C (p.Ser223=) n.600T>C c.510T>C (p.Ser170=) n.396T>C c.315T>C (p.Ser105=) | |
| 4 | g.110618431A>T | CA357983834 | PITX2 | c.442T>A (p.Tyr148Asn) c.567T>A (p.Ser189=) n.635T>A n.639T>A c.648T>A (p.Ser216=) n.711T>A c.669T>A (p.Ser223=) n.600T>A c.510T>A (p.Ser170=) n.396T>A c.315T>A (p.Ser105=) | |
| 4 | g.110618432G>A | CA357983835 | PITX2 | c.441C>T (p.Leu147=) c.566C>T (p.Ser189Phe) n.634C>T n.638C>T c.647C>T (p.Ser216Phe) n.710C>T c.668C>T (p.Ser223Phe) n.599C>T c.509C>T (p.Ser170Phe) n.395C>T c.314C>T (p.Ser105Phe) | |
| 4 | g.110618432G>C | CA357983837 | PITX2 | c.441C>G (p.Leu147=) c.566C>G (p.Ser189Cys) n.634C>G n.638C>G c.647C>G (p.Ser216Cys) n.710C>G c.668C>G (p.Ser223Cys) n.599C>G c.509C>G (p.Ser170Cys) n.395C>G c.314C>G (p.Ser105Cys) | |
| 4 | g.110618432G>T | CA357983836 | PITX2 | c.441C>A (p.Leu147=) c.566C>A (p.Ser189Tyr) n.634C>A n.638C>A c.647C>A (p.Ser216Tyr) n.710C>A c.668C>A (p.Ser223Tyr) n.599C>A c.509C>A (p.Ser170Tyr) n.395C>A c.314C>A (p.Ser105Tyr) | |
| 4 | g.110618433A>C | CA357983838 | PITX2 | c.440T>G (p.Leu147Arg) c.565T>G (p.Ser189Ala) n.633T>G n.637T>G c.646T>G (p.Ser216Ala) n.709T>G c.667T>G (p.Ser223Ala) n.598T>G c.508T>G (p.Ser170Ala) n.394T>G c.313T>G (p.Ser105Ala) | |
| 4 | g.110618433A>G | CA357983839 | PITX2 | c.440T>C (p.Leu147Pro) c.565T>C (p.Ser189Pro) n.633T>C n.637T>C c.646T>C (p.Ser216Pro) n.709T>C c.667T>C (p.Ser223Pro) n.598T>C c.508T>C (p.Ser170Pro) n.394T>C c.313T>C (p.Ser105Pro) | |
| 4 | g.110618433A>T | CA357983840 | PITX2 | c.440T>A (p.Leu147His) c.565T>A (p.Ser189Thr) n.633T>A n.637T>A c.646T>A (p.Ser216Thr) n.709T>A c.667T>A (p.Ser223Thr) n.598T>A c.508T>A (p.Ser170Thr) n.394T>A c.313T>A (p.Ser105Thr) | |
| 4 | g.110618434G>A | CA357983841 | PITX2 | c.439C>T (p.Leu147Phe) c.564C>T (p.Asn188=) n.632C>T n.636C>T c.645C>T (p.Asn215=) n.708C>T c.666C>T (p.Asn222=) n.597C>T c.507C>T (p.Asn169=) n.393C>T c.312C>T (p.Asn104=) | |
| 4 | g.110618434G>C | CA357983842 | PITX2 | c.439C>G (p.Leu147Val) c.564C>G (p.Asn188Lys) n.632C>G n.636C>G c.645C>G (p.Asn215Lys) n.708C>G c.666C>G (p.Asn222Lys) n.597C>G c.507C>G (p.Asn169Lys) n.393C>G c.312C>G (p.Asn104Lys) |