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 |
|---|---|---|---|---|---|
| X | g.136209919_136209927dup | CA913191013 | FHL1 | c.785_793dup (p.Tyr264_Cys265insTyrAspTyr) c.937_945dup (p.Thr315_Ala316insThrThrThr) c.737_745dup (p.Tyr248_Cys249insTyrAspTyr) c.*66_*74dup (n.*66_*74dup) c.598_606dup (p.Thr202_Ala203insThrThrThr) c.824_832dup (p.Tyr277_Cys278insTyrAspTyr) c.550_558dup (p.Thr186_Ala187insThrThrThr) n.324_332dup n.1148_1156dup c.985_993dup (p.Thr331_Ala332insThrThrThr) | ClinVar dbSNP |
| X | g.136209923C>A | CA414609723 | FHL1 | c.789C>A (p.Asp263Glu) c.941C>A (p.Thr314Asn) c.741C>A (p.Asp247Glu) c.*70C>A (n.*70C>A) c.602C>A (p.Thr201Asn) c.828C>A (p.Asp276Glu) c.554C>A (p.Thr185Asn) n.328C>A n.1152C>A c.989C>A (p.Thr330Asn) | |
| X | g.136209923C= | CA2460260274 | FHL1 | c.789C= (p.Asp263=) c.941C= (p.Thr314=) c.741C= (p.Asp247=) c.*70C= (n.*70C=) c.602C= (p.Thr201=) c.828C= (p.Asp276=) c.554C= (p.Thr185=) n.328C= n.1152C= c.989C= (p.Thr330=) | |
| X | g.136209923C>G | CA414609724 | FHL1 | c.789C>G (p.Asp263Glu) c.941C>G (p.Thr314Ser) c.741C>G (p.Asp247Glu) c.*70C>G (n.*70C>G) c.602C>G (p.Thr201Ser) c.828C>G (p.Asp276Glu) c.554C>G (p.Thr185Ser) n.328C>G n.1152C>G c.989C>G (p.Thr330Ser) | |
| X | g.136209923C>T | CA16608753 | FHL1 | c.789C>T (p.Asp263=) c.941C>T (p.Thr314Ile) c.741C>T (p.Asp247=) c.*70C>T (n.*70C>T) c.602C>T (p.Thr201Ile) c.828C>T (p.Asp276=) c.554C>T (p.Thr185Ile) n.328C>T n.1152C>T c.989C>T (p.Thr330Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.136209924T>A | CA414609725 | FHL1 | c.790T>A (p.Tyr264Asn) c.942T>A (p.Thr314=) c.742T>A (p.Tyr248Asn) c.*71T>A (n.*71T>A) c.603T>A (p.Thr201=) c.829T>A (p.Tyr277Asn) c.555T>A (p.Thr185=) n.329T>A n.1153T>A c.990T>A (p.Thr330=) | |
| X | g.136209924T>C | CA414609726 | FHL1 | c.790T>C (p.Tyr264His) c.942T>C (p.Thr314=) c.742T>C (p.Tyr248His) c.*71T>C (n.*71T>C) c.603T>C (p.Thr201=) c.829T>C (p.Tyr277His) c.555T>C (p.Thr185=) n.329T>C n.1153T>C c.990T>C (p.Thr330=) | |
| X | g.136209924T>G | CA414609727 | FHL1 | c.790T>G (p.Tyr264Asp) c.942T>G (p.Thr314=) c.742T>G (p.Tyr248Asp) c.*71T>G (n.*71T>G) c.603T>G (p.Thr201=) c.829T>G (p.Tyr277Asp) c.555T>G (p.Thr185=) n.329T>G n.1153T>G c.990T>G (p.Thr330=) | |
| X | g.136209925A>C | CA414609729 | FHL1 | c.791A>C (p.Tyr264Ser) c.943A>C (p.Thr315Pro) c.743A>C (p.Tyr248Ser) c.*72A>C (n.*72A>C) c.604A>C (p.Thr202Pro) c.830A>C (p.Tyr277Ser) c.556A>C (p.Thr186Pro) n.330A>C n.1154A>C c.991A>C (p.Thr331Pro) | |
| X | g.136209925A>G | CA414609730 | FHL1 | c.791A>G (p.Tyr264Cys) c.943A>G (p.Thr315Ala) c.743A>G (p.Tyr248Cys) c.*72A>G (n.*72A>G) c.604A>G (p.Thr202Ala) c.830A>G (p.Tyr277Cys) c.556A>G (p.Thr186Ala) n.330A>G n.1154A>G c.991A>G (p.Thr331Ala) | gnomAD v4 |
| X | g.136209925A>T | CA414609728 | FHL1 | c.791A>T (p.Tyr264Phe) c.943A>T (p.Thr315Ser) c.743A>T (p.Tyr248Phe) c.*72A>T (n.*72A>T) c.604A>T (p.Thr202Ser) c.830A>T (p.Tyr277Phe) c.556A>T (p.Thr186Ser) n.330A>T n.1154A>T c.991A>T (p.Thr331Ser) | gnomAD v4 |
| X | g.136209926C>A | CA414609731 | FHL1 | c.792C>A (p.Tyr264Ter) c.944C>A (p.Thr315Asn) c.744C>A (p.Tyr248Ter) c.*73C>A (n.*73C>A) c.605C>A (p.Thr202Asn) c.831C>A (p.Tyr277Ter) c.557C>A (p.Thr186Asn) n.331C>A n.1155C>A c.992C>A (p.Thr331Asn) | |
| X | g.136209926C= | CA2460260275 | FHL1 | c.792C= (p.Tyr264=) c.944C= (p.Thr315=) c.744C= (p.Tyr248=) c.*73C= (n.*73C=) c.605C= (p.Thr202=) c.831C= (p.Tyr277=) c.557C= (p.Thr186=) n.331C= n.1155C= c.992C= (p.Thr331=) | |
| X | g.136209926C>G | CA414609732 | FHL1 | c.792C>G (p.Tyr264Ter) c.944C>G (p.Thr315Ser) c.744C>G (p.Tyr248Ter) c.*73C>G (n.*73C>G) c.605C>G (p.Thr202Ser) c.831C>G (p.Tyr277Ter) c.557C>G (p.Thr186Ser) n.331C>G n.1155C>G c.992C>G (p.Thr331Ser) | ClinVar |
| X | g.136209926C>T | CA10525123 | FHL1 | c.792C>T (p.Tyr264=) c.944C>T (p.Thr315Ile) c.744C>T (p.Tyr248=) c.*73C>T (n.*73C>T) c.605C>T (p.Thr202Ile) c.831C>T (p.Tyr277=) c.557C>T (p.Thr186Ile) n.331C>T n.1155C>T c.992C>T (p.Thr331Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.136209927T>A | CA414609733 | FHL1 | c.793T>A (p.Cys265Ser) c.945T>A (p.Thr315=) c.745T>A (p.Cys249Ser) c.*74T>A (n.*74T>A) c.606T>A (p.Thr202=) c.832T>A (p.Cys278Ser) c.558T>A (p.Thr186=) n.332T>A n.1156T>A c.993T>A (p.Thr331=) | |
| X | g.136209927T>C | CA414609734 | FHL1 | c.793T>C (p.Cys265Arg) c.945T>C (p.Thr315=) c.745T>C (p.Cys249Arg) c.*74T>C (n.*74T>C) c.606T>C (p.Thr202=) c.832T>C (p.Cys278Arg) c.558T>C (p.Thr186=) n.332T>C n.1156T>C c.993T>C (p.Thr331=) | |
| X | g.136209927T>G | CA414609735 | FHL1 | c.793T>G (p.Cys265Gly) c.945T>G (p.Thr315=) c.745T>G (p.Cys249Gly) c.*74T>G (n.*74T>G) c.606T>G (p.Thr202=) c.832T>G (p.Cys278Gly) c.558T>G (p.Thr186=) n.332T>G n.1156T>G c.993T>G (p.Thr331=) | |
| X | g.136209928G>A | CA336096626 | FHL1 | c.794G>A (p.Cys265Tyr) c.946G>A (p.Ala316Thr) c.746G>A (p.Cys249Tyr) c.*75G>A (n.*75G>A) c.607G>A (p.Ala203Thr) c.833G>A (p.Cys278Tyr) c.559G>A (p.Ala187Thr) n.333G>A n.1157G>A c.994G>A (p.Ala332Thr) | ClinVar dbSNP |
| X | g.136209928G>C | CA414609737 | FHL1 | c.794G>C (p.Cys265Ser) c.946G>C (p.Ala316Pro) c.746G>C (p.Cys249Ser) c.*75G>C (n.*75G>C) c.607G>C (p.Ala203Pro) c.833G>C (p.Cys278Ser) c.559G>C (p.Ala187Pro) n.333G>C n.1157G>C c.994G>C (p.Ala332Pro) | ClinVar dbSNP |
| X | g.136209928G= | CA2460260276 | FHL1 | c.794G= (p.Cys265=) c.946G= (p.Ala316=) c.746G= (p.Cys249=) c.*75G= (n.*75G=) c.607G= (p.Ala203=) c.833G= (p.Cys278=) c.559G= (p.Ala187=) n.333G= n.1157G= c.994G= (p.Ala332=) | |
| X | g.136209928G>T | CA414609736 | FHL1 | c.794G>T (p.Cys265Phe) c.946G>T (p.Ala316Ser) c.746G>T (p.Cys249Phe) c.*75G>T (n.*75G>T) c.607G>T (p.Ala203Ser) c.833G>T (p.Cys278Phe) c.559G>T (p.Ala187Ser) n.333G>T n.1157G>T c.994G>T (p.Ala332Ser) | |
| X | g.136209929C>A | CA414609738 | FHL1 | c.795C>A (p.Cys265Ter) c.947C>A (p.Ala316Asp) c.747C>A (p.Cys249Ter) c.*76C>A (n.*76C>A) c.608C>A (p.Ala203Asp) c.834C>A (p.Cys278Ter) c.560C>A (p.Ala187Asp) n.334C>A n.1158C>A c.995C>A (p.Ala332Asp) | |
| X | g.136209929C= | CA2460260277 | FHL1 | c.795C= (p.Cys265=) c.947C= (p.Ala316=) c.747C= (p.Cys249=) c.*76C= (n.*76C=) c.608C= (p.Ala203=) c.834C= (p.Cys278=) c.560C= (p.Ala187=) n.334C= n.1158C= c.995C= (p.Ala332=) | |
| X | g.136209929C>G | CA414609739 | FHL1 | c.795C>G (p.Cys265Trp) c.947C>G (p.Ala316Gly) c.747C>G (p.Cys249Trp) c.*76C>G (n.*76C>G) c.608C>G (p.Ala203Gly) c.834C>G (p.Cys278Trp) c.560C>G (p.Ala187Gly) n.334C>G n.1158C>G c.995C>G (p.Ala332Gly) | |
| X | g.136209929C>T | CA10525124 | FHL1 | c.795C>T (p.Cys265=) c.947C>T (p.Ala316Val) c.747C>T (p.Cys249=) c.*76C>T (n.*76C>T) c.608C>T (p.Ala203Val) c.834C>T (p.Cys278=) c.560C>T (p.Ala187Val) n.334C>T n.1158C>T c.995C>T (p.Ala332Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.136209930T>A | CA414609740 | FHL1 | c.796T>A (p.Phe266Ile) c.948T>A (p.Ala316=) c.748T>A (p.Phe250Ile) c.*77T>A (n.*77T>A) c.609T>A (p.Ala203=) c.835T>A (p.Phe279Ile) c.561T>A (p.Ala187=) n.335T>A n.1159T>A c.996T>A (p.Ala332=) | |
| X | g.136209930T>C | CA414609741 | FHL1 | c.796T>C (p.Phe266Leu) c.948T>C (p.Ala316=) c.748T>C (p.Phe250Leu) c.*77T>C (n.*77T>C) c.609T>C (p.Ala203=) c.835T>C (p.Phe279Leu) c.561T>C (p.Ala187=) n.335T>C n.1159T>C c.996T>C (p.Ala332=) | |
| X | g.136209930T>G | CA414609742 | FHL1 | c.796T>G (p.Phe266Val) c.948T>G (p.Ala316=) c.748T>G (p.Phe250Val) c.*77T>G (n.*77T>G) c.609T>G (p.Ala203=) c.835T>G (p.Phe279Val) c.561T>G (p.Ala187=) n.335T>G n.1159T>G c.996T>G (p.Ala332=) | |
| X | g.136209931T>A | CA414609743 | FHL1 | c.797T>A (p.Phe266Tyr) c.949T>A (p.Ser317Thr) c.749T>A (p.Phe250Tyr) c.*78T>A (n.*78T>A) c.610T>A (p.Ser204Thr) c.836T>A (p.Phe279Tyr) c.562T>A (p.Ser188Thr) n.336T>A n.1160T>A c.997T>A (p.Ser333Thr) | |
| X | g.136209931T>C | CA414609745 | FHL1 | c.797T>C (p.Phe266Ser) c.949T>C (p.Ser317Pro) c.749T>C (p.Phe250Ser) c.*78T>C (n.*78T>C) c.610T>C (p.Ser204Pro) c.836T>C (p.Phe279Ser) c.562T>C (p.Ser188Pro) n.336T>C n.1160T>C c.997T>C (p.Ser333Pro) | |
| X | g.136209931T>G | CA414609744 | FHL1 | c.797T>G (p.Phe266Cys) c.949T>G (p.Ser317Ala) c.749T>G (p.Phe250Cys) c.*78T>G (n.*78T>G) c.610T>G (p.Ser204Ala) c.836T>G (p.Phe279Cys) c.562T>G (p.Ser188Ala) n.336T>G n.1160T>G c.997T>G (p.Ser333Ala) | |
| X | g.136209932C>A | CA414609746 | FHL1 | c.798C>A (p.Phe266Leu) c.950C>A (p.Ser317Tyr) c.750C>A (p.Phe250Leu) c.*79C>A (n.*79C>A) c.611C>A (p.Ser204Tyr) c.837C>A (p.Phe279Leu) c.563C>A (p.Ser188Tyr) n.337C>A n.1161C>A c.998C>A (p.Ser333Tyr) | |
| X | g.136209932C>G | CA414609747 | FHL1 | c.798C>G (p.Phe266Leu) c.950C>G (p.Ser317Cys) c.750C>G (p.Phe250Leu) c.*79C>G (n.*79C>G) c.611C>G (p.Ser204Cys) c.837C>G (p.Phe279Leu) c.563C>G (p.Ser188Cys) n.337C>G n.1161C>G c.998C>G (p.Ser333Cys) | |
| X | g.136209932C>T | CA414609748 | FHL1 | c.798C>T (p.Phe266=) c.950C>T (p.Ser317Phe) c.750C>T (p.Phe250=) c.*79C>T (n.*79C>T) c.611C>T (p.Ser204Phe) c.837C>T (p.Phe279=) c.563C>T (p.Ser188Phe) n.337C>T n.1161C>T c.998C>T (p.Ser333Phe) | |
| X | g.136209933C>A | CA414609749 | FHL1 | c.799C>A (p.His267Asn) c.951C>A (p.Ser317=) c.751C>A (p.His251Asn) c.*80C>A (n.*80C>A) c.612C>A (p.Ser204=) c.838C>A (p.His280Asn) c.564C>A (p.Ser188=) n.338C>A n.1162C>A c.999C>A (p.Ser333=) | |
| X | g.136209933C= | CA2460260278 | FHL1 | c.799C= (p.His267=) c.951C= (p.Ser317=) c.751C= (p.His251=) c.*80C= (n.*80C=) c.612C= (p.Ser204=) c.838C= (p.His280=) c.564C= (p.Ser188=) n.338C= n.1162C= c.999C= (p.Ser333=) | |
| X | g.136209933C>G | CA414609750 | FHL1 | c.799C>G (p.His267Asp) c.951C>G (p.Ser317=) c.751C>G (p.His251Asp) c.*80C>G (n.*80C>G) c.612C>G (p.Ser204=) c.838C>G (p.His280Asp) c.564C>G (p.Ser188=) n.338C>G n.1162C>G c.999C>G (p.Ser333=) | |
| X | g.136209933C>T | CA414609751 | FHL1 | c.799C>T (p.His267Tyr) c.951C>T (p.Ser317=) c.751C>T (p.His251Tyr) c.*80C>T (n.*80C>T) c.612C>T (p.Ser204=) c.838C>T (p.His280Tyr) c.564C>T (p.Ser188=) n.338C>T n.1162C>T c.999C>T (p.Ser333=) | dbSNP |
| X | g.136209934A>C | CA414609752 | FHL1 | c.800A>C (p.His267Pro) c.952A>C (p.Thr318Pro) c.752A>C (p.His251Pro) c.*81A>C (n.*81A>C) c.613A>C (p.Thr205Pro) c.839A>C (p.His280Pro) c.565A>C (p.Thr189Pro) n.339A>C n.1163A>C c.1000A>C (p.Thr334Pro) | |
| X | g.136209934A>G | CA414609753 | FHL1 | c.800A>G (p.His267Arg) c.952A>G (p.Thr318Ala) c.752A>G (p.His251Arg) c.*81A>G (n.*81A>G) c.613A>G (p.Thr205Ala) c.839A>G (p.His280Arg) c.565A>G (p.Thr189Ala) n.339A>G n.1163A>G c.1000A>G (p.Thr334Ala) | gnomAD v4 |
| X | g.136209934A>T | CA414609754 | FHL1 | c.800A>T (p.His267Leu) c.952A>T (p.Thr318Ser) c.752A>T (p.His251Leu) c.*81A>T (n.*81A>T) c.613A>T (p.Thr205Ser) c.839A>T (p.His280Leu) c.565A>T (p.Thr189Ser) n.339A>T n.1163A>T c.1000A>T (p.Thr334Ser) | |
| X | g.136209935C>A | CA414609755 | FHL1 | c.801C>A (p.His267Gln) c.953C>A (p.Thr318Asn) c.753C>A (p.His251Gln) c.*82C>A (n.*82C>A) c.614C>A (p.Thr205Asn) c.840C>A (p.His280Gln) c.566C>A (p.Thr189Asn) n.340C>A n.1164C>A c.1001C>A (p.Thr334Asn) | |
| X | g.136209935C>G | CA414609756 | FHL1 | c.801C>G (p.His267Gln) c.953C>G (p.Thr318Ser) c.753C>G (p.His251Gln) c.*82C>G (n.*82C>G) c.614C>G (p.Thr205Ser) c.840C>G (p.His280Gln) c.566C>G (p.Thr189Ser) n.340C>G n.1164C>G c.1001C>G (p.Thr334Ser) | |
| X | g.136209935C>T | CA414609757 | FHL1 | c.801C>T (p.His267=) c.953C>T (p.Thr318Ile) c.753C>T (p.His251=) c.*82C>T (n.*82C>T) c.614C>T (p.Thr205Ile) c.840C>T (p.His280=) c.566C>T (p.Thr189Ile) n.340C>T n.1164C>T c.1001C>T (p.Thr334Ile) | |
| X | g.136209935delinsAA | CA2580101596 | FHL1 | c.801delinsAA (p.His267GlnfsTer?) c.953delinsAA (p.Thr318LysfsTer31) c.753delinsAA (p.His251GlnfsTer?) c.*82delinsAA (n.*82delinsAA) c.614delinsAA (p.Thr205LysfsTer31) c.840delinsAA (p.His280GlnfsTer?) c.566delinsAA (p.Thr189LysfsTer31) n.340delinsAA n.1164delinsAA c.1001delinsAA (p.Thr334LysfsTer31) | ClinVar |
| X | g.136209936T>A | CA414609758 | FHL1 | c.802T>A (p.Cys268Ser) c.954T>A (p.Thr318=) c.754T>A (p.Cys252Ser) c.*83T>A (n.*83T>A) c.615T>A (p.Thr205=) c.841T>A (p.Cys281Ser) c.567T>A (p.Thr189=) n.341T>A n.1165T>A c.1002T>A (p.Thr334=) | |
| X | g.136209936T>C | CA414609760 | FHL1 | c.802T>C (p.Cys268Arg) c.954T>C (p.Thr318=) c.754T>C (p.Cys252Arg) c.*83T>C (n.*83T>C) c.615T>C (p.Thr205=) c.841T>C (p.Cys281Arg) c.567T>C (p.Thr189=) n.341T>C n.1165T>C c.1002T>C (p.Thr334=) | ClinVar |
| X | g.136209936T>G | CA414609759 | FHL1 | c.802T>G (p.Cys268Gly) c.954T>G (p.Thr318=) c.754T>G (p.Cys252Gly) c.*83T>G (n.*83T>G) c.615T>G (p.Thr205=) c.841T>G (p.Cys281Gly) c.567T>G (p.Thr189=) n.341T>G n.1165T>G c.1002T>G (p.Thr334=) | |
| X | g.136209937G>A | CA414609761 | FHL1 | c.803G>A (p.Cys268Tyr) c.955G>A (p.Ala319Thr) c.755G>A (p.Cys252Tyr) c.*84G>A (n.*84G>A) c.616G>A (p.Ala206Thr) c.842G>A (p.Cys281Tyr) c.568G>A (p.Ala190Thr) n.342G>A n.1166G>A c.1003G>A (p.Ala335Thr) | ClinVar dbSNP gnomAD v4 |