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 |
|---|---|---|---|---|---|
| 14 | g.80203054C>A | CA390765007 | DIO2 | c.457G>T (p.Val153Leu) c.*295G>T (n.*295G>T) c.*258G>T (n.*258G>T) c.565G>T (p.Val189Leu) c.541G>T c.433G>T c.81G>T (p.Gln27His) n.597G>T n.731G>T | |
| 14 | g.80203054C>G | CA390765008 | DIO2 | c.457G>C (p.Val153Leu) c.*295G>C (n.*295G>C) c.*258G>C (n.*258G>C) c.565G>C (p.Val189Leu) c.541G>C c.433G>C c.81G>C (p.Gln27His) n.597G>C n.731G>C | |
| 14 | g.80203054C>T | CA390765009 | DIO2 | c.457G>A (p.Val153Met) c.*295G>A (n.*295G>A) c.*258G>A (n.*258G>A) c.565G>A (p.Val189Met) c.541G>A c.433G>A c.81G>A (p.Gln27=) n.597G>A n.731G>A | |
| 14 | g.80203055T>A | CA390765012 | DIO2 | c.456A>T (p.Ser152=) c.*294A>T (n.*294A>T) c.*257A>T (n.*257A>T) c.564A>T (p.Ser188=) c.540A>T c.432A>T c.80A>T (p.Gln27Leu) n.596A>T n.730A>T | |
| 14 | g.80203055T>C | CA390765010 | DIO2 | c.456A>G (p.Ser152=) c.*294A>G (n.*294A>G) c.*257A>G (n.*257A>G) c.564A>G (p.Ser188=) c.540A>G c.432A>G c.80A>G (p.Gln27Arg) n.596A>G n.730A>G | |
| 14 | g.80203055T>G | CA390765011 | DIO2 | c.456A>C (p.Ser152=) c.*294A>C (n.*294A>C) c.*257A>C (n.*257A>C) c.564A>C (p.Ser188=) c.540A>C c.432A>C c.80A>C (p.Gln27Pro) n.596A>C n.730A>C | |
| 14 | g.80203055_80203058delinsTGAG | CA2149670738 | DIO2 | c.453_456delinsCTCA (p.Ser151=) c.*291_*294delinsCTCA (n.*291_*294delinsCTCA) c.*254_*257delinsCTCA (n.*254_*257delinsCTCA) c.561_564delinsCTCA (p.Ser187=) c.537_540delinsCTCA c.429_432delinsCTCA c.77_80delinsCTCA (p.Pro26=) n.593_596delinsCTCA n.727_730delinsCTCA | |
| 14 | g.80203056G>A | CA390765013 | DIO2 | c.455C>T (p.Ser152Leu) c.*293C>T (n.*293C>T) c.*256C>T (n.*256C>T) c.563C>T (p.Ser188Leu) c.539C>T c.431C>T c.79C>T (p.Gln27Ter) n.595C>T n.729C>T | |
| 14 | g.80203056G>C | CA390765014 | DIO2 | c.455C>G (p.Ser152Ter) c.*293C>G (n.*293C>G) c.*256C>G (n.*256C>G) c.563C>G (p.Ser188Ter) c.539C>G c.431C>G c.79C>G (p.Gln27Glu) n.595C>G n.729C>G | |
| 14 | g.80203056G>T | CA390765015 | DIO2 | c.455C>A (p.Ser152Ter) c.*293C>A (n.*293C>A) c.*256C>A (n.*256C>A) c.563C>A (p.Ser188Ter) c.539C>A c.431C>A c.79C>A (p.Gln27Lys) n.595C>A n.729C>A | |
| 14 | g.80203059_80203061del | CA7292630 | DIO2 | c.453_455del (p.Ser152del) c.*291_*293del (n.*291_*293del) c.*254_*256del (n.*254_*256del) c.561_563del (p.Ser188del) c.537_539del c.429_431del c.77_79del (p.Pro26del) n.593_595del n.727_729del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.80203057A>C | CA390765016 | DIO2 | c.454T>G (p.Ser152Ala) c.*292T>G (n.*292T>G) c.*255T>G (n.*255T>G) c.562T>G (p.Ser188Ala) c.538T>G c.430T>G c.78T>G (p.Pro26=) n.594T>G n.728T>G | |
| 14 | g.80203057A>G | CA390765017 | DIO2 | c.454T>C (p.Ser152Pro) c.*292T>C (n.*292T>C) c.*255T>C (n.*255T>C) c.562T>C (p.Ser188Pro) c.538T>C c.430T>C c.78T>C (p.Pro26=) n.594T>C n.728T>C | |
| 14 | g.80203057A>T | CA390765018 | DIO2 | c.454T>A (p.Ser152Thr) c.*292T>A (n.*292T>A) c.*255T>A (n.*255T>A) c.562T>A (p.Ser188Thr) c.538T>A c.430T>A c.78T>A (p.Pro26=) n.594T>A n.728T>A | |
| 14 | g.80203058G>A | CA7292631 | DIO2 | c.453C>T (p.Ser151=) c.*291C>T (n.*291C>T) c.*254C>T (n.*254C>T) c.561C>T (p.Ser187=) c.537C>T c.429C>T c.77C>T (p.Pro26Leu) n.593C>T n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.80203058G>C | CA390765019 | DIO2 | c.453C>G (p.Ser151=) c.*291C>G (n.*291C>G) c.*254C>G (n.*254C>G) c.561C>G (p.Ser187=) c.537C>G c.429C>G c.77C>G (p.Pro26Arg) n.593C>G n.727C>G | |
| 14 | g.80203058G= | CA2149670742 | DIO2 | c.453C= (p.Ser151=) c.*291C= (n.*291C=) c.*254C= (n.*254C=) c.561C= (p.Ser187=) c.537C= c.429C= c.77C= (p.Pro26=) n.593C= n.727C= | |
| 14 | g.80203058G>T | CA390765020 | DIO2 | c.453C>A (p.Ser151=) c.*291C>A (n.*291C>A) c.*254C>A (n.*254C>A) c.561C>A (p.Ser187=) c.537C>A c.429C>A c.77C>A (p.Pro26His) n.593C>A n.727C>A | |
| 14 | g.80203059G>A | CA390765021 | DIO2 | c.452C>T (p.Ser151Phe) c.*290C>T (n.*290C>T) c.*253C>T (n.*253C>T) c.560C>T (p.Ser187Phe) c.536C>T c.428C>T c.76C>T (p.Pro26Ser) n.592C>T n.726C>T | |
| 14 | g.80203059G>C | CA7292632 | DIO2 | c.452C>G (p.Ser151Cys) c.*290C>G (n.*290C>G) c.*253C>G (n.*253C>G) c.560C>G (p.Ser187Cys) c.536C>G c.428C>G c.76C>G (p.Pro26Ala) n.592C>G n.726C>G | dbSNP ExAC |
| 14 | g.80203059G= | CA2149670746 | DIO2 | c.452C= (p.Ser151=) c.*290C= (n.*290C=) c.*253C= (n.*253C=) c.560C= (p.Ser187=) c.536C= c.428C= c.76C= (p.Pro26=) n.592C= n.726C= | |
| 14 | g.80203059G>T | CA390765022 | DIO2 | c.452C>A (p.Ser151Tyr) c.*290C>A (n.*290C>A) c.*253C>A (n.*253C>A) c.560C>A (p.Ser187Tyr) c.536C>A c.428C>A c.76C>A (p.Pro26Thr) n.592C>A n.726C>A | |
| 14 | g.80203060A>C | CA390765025 | DIO2 | c.451T>G (p.Ser151Ala) c.*289T>G (n.*289T>G) c.*252T>G (n.*252T>G) c.559T>G (p.Ser187Ala) c.535T>G c.427T>G c.75T>G (p.Ser25=) n.591T>G n.725T>G | |
| 14 | g.80203060A>G | CA390765023 | DIO2 | c.451T>C (p.Ser151Pro) c.*289T>C (n.*289T>C) c.*252T>C (n.*252T>C) c.559T>C (p.Ser187Pro) c.535T>C c.427T>C c.75T>C (p.Ser25=) n.591T>C n.725T>C | |
| 14 | g.80203060A>T | CA390765024 | DIO2 | c.451T>A (p.Ser151Thr) c.*289T>A (n.*289T>A) c.*252T>A (n.*252T>A) c.559T>A (p.Ser187Thr) c.535T>A c.427T>A c.75T>A (p.Ser25=) n.591T>A n.725T>A | |
| 14 | g.80203061G>A | CA390765026 | DIO2 | c.450C>T (p.Phe150=) c.*288C>T (n.*288C>T) c.*251C>T (n.*251C>T) c.558C>T (p.Phe186=) c.534C>T c.426C>T c.74C>T (p.Ser25Phe) n.590C>T n.724C>T | |
| 14 | g.80203061G>C | CA7292633 | DIO2 | c.450C>G (p.Phe150Leu) c.*288C>G (n.*288C>G) c.*251C>G (n.*251C>G) c.558C>G (p.Phe186Leu) c.534C>G c.426C>G c.74C>G (p.Ser25Cys) n.590C>G n.724C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.80203061G= | CA2149670748 | DIO2 | c.450C= (p.Phe150=) c.*288C= (n.*288C=) c.*251C= (n.*251C=) c.558C= (p.Phe186=) c.534C= c.426C= c.74C= (p.Ser25=) n.590C= n.724C= | |
| 14 | g.80203061G>T | CA390765027 | DIO2 | c.450C>A (p.Phe150Leu) c.*288C>A (n.*288C>A) c.*251C>A (n.*251C>A) c.558C>A (p.Phe186Leu) c.534C>A c.426C>A c.74C>A (p.Ser25Tyr) n.590C>A n.724C>A | |
| 14 | g.80203062A>C | CA390765028 | DIO2 | c.449T>G (p.Phe150Cys) c.*287T>G (n.*287T>G) c.*250T>G (n.*250T>G) c.557T>G (p.Phe186Cys) c.533T>G c.425T>G c.73T>G (p.Ser25Ala) n.589T>G n.723T>G | |
| 14 | g.80203062A>G | CA390765029 | DIO2 | c.449T>C (p.Phe150Ser) c.*287T>C (n.*287T>C) c.*250T>C (n.*250T>C) c.557T>C (p.Phe186Ser) c.533T>C c.425T>C c.73T>C (p.Ser25Pro) n.589T>C n.723T>C | |
| 14 | g.80203062A>T | CA390765030 | DIO2 | c.449T>A (p.Phe150Tyr) c.*287T>A (n.*287T>A) c.*250T>A (n.*250T>A) c.557T>A (p.Phe186Tyr) c.533T>A c.425T>A c.73T>A (p.Ser25Thr) n.589T>A n.723T>A | |
| 14 | g.80203063A>C | CA390765031 | DIO2 | c.448T>G (p.Phe150Val) c.*286T>G (n.*286T>G) c.*249T>G (n.*249T>G) c.556T>G (p.Phe186Val) c.532T>G c.424T>G c.72T>G (p.Ser24Arg) n.588T>G n.722T>G | |
| 14 | g.80203063A>G | CA390765032 | DIO2 | c.448T>C (p.Phe150Leu) c.*286T>C (n.*286T>C) c.*249T>C (n.*249T>C) c.556T>C (p.Phe186Leu) c.532T>C c.424T>C c.72T>C (p.Ser24=) n.588T>C n.722T>C | |
| 14 | g.80203063A>T | CA390765033 | DIO2 | c.448T>A (p.Phe150Ile) c.*286T>A (n.*286T>A) c.*249T>A (n.*249T>A) c.556T>A (p.Phe186Ile) c.532T>A c.424T>A c.72T>A (p.Ser24Arg) n.588T>A n.722T>A | |
| 14 | g.80203064C>A | CA390765034 | DIO2 | c.447G>T (p.Glu149Asp) c.*285G>T (n.*285G>T) c.*248G>T (n.*248G>T) c.555G>T (p.Glu185Asp) c.531G>T c.423G>T c.71G>T (p.Ser24Ile) n.587G>T n.721G>T | |
| 14 | g.80203064C>G | CA390765035 | DIO2 | c.447G>C (p.Glu149Asp) c.*285G>C (n.*285G>C) c.*248G>C (n.*248G>C) c.555G>C (p.Glu185Asp) c.531G>C c.423G>C c.71G>C (p.Ser24Thr) n.587G>C n.721G>C | |
| 14 | g.80203064C>T | CA390765036 | DIO2 | c.447G>A (p.Glu149=) c.*285G>A (n.*285G>A) c.*248G>A (n.*248G>A) c.555G>A (p.Glu185=) c.531G>A c.423G>A c.71G>A (p.Ser24Asn) n.587G>A n.721G>A | |
| 14 | g.80203065T>A | CA390765037 | DIO2 | c.446A>T (p.Glu149Val) c.*284A>T (n.*284A>T) c.*247A>T (n.*247A>T) c.554A>T (p.Glu185Val) c.530A>T c.422A>T c.70A>T (p.Ser24Cys) n.586A>T n.720A>T | |
| 14 | g.80203065T>C | CA390765038 | DIO2 | c.446A>G (p.Glu149Gly) c.*284A>G (n.*284A>G) c.*247A>G (n.*247A>G) c.554A>G (p.Glu185Gly) c.530A>G c.422A>G c.70A>G (p.Ser24Gly) n.586A>G n.720A>G | gnomAD v4 |
| 14 | g.80203065T>G | CA7292634 | DIO2 | c.446A>C (p.Glu149Ala) c.*284A>C (n.*284A>C) c.*247A>C (n.*247A>C) c.554A>C (p.Glu185Ala) c.530A>C c.422A>C c.70A>C (p.Ser24Arg) n.586A>C n.720A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.80203065T= | CA2149670753 | DIO2 | c.446A= (p.Glu149=) c.*284A= (n.*284A=) c.*247A= (n.*247A=) c.554A= (p.Glu185=) c.530A= c.422A= c.70A= (p.Ser24=) n.586A= n.720A= | |
| 14 | g.80203066C>A | CA390765039 | DIO2 | c.445G>T (p.Glu149Ter) c.*283G>T (n.*283G>T) c.*246G>T (n.*246G>T) c.553G>T (p.Glu185Ter) c.529G>T c.421G>T c.69G>T (p.Lys23Asn) n.585G>T n.719G>T | |
| 14 | g.80203066C>G | CA390765040 | DIO2 | c.445G>C (p.Glu149Gln) c.*283G>C (n.*283G>C) c.*246G>C (n.*246G>C) c.553G>C (p.Glu185Gln) c.529G>C c.421G>C c.69G>C (p.Lys23Asn) n.585G>C n.719G>C | |
| 14 | g.80203066C>T | CA390765041 | DIO2 | c.445G>A (p.Glu149Lys) c.*283G>A (n.*283G>A) c.*246G>A (n.*246G>A) c.553G>A (p.Glu185Lys) c.529G>A c.421G>A c.69G>A (p.Lys23=) n.585G>A n.719G>A | |
| 14 | g.80203067T>A | CA390765042 | DIO2 | c.444A>T (p.Glu148Asp) c.*282A>T (n.*282A>T) c.*245A>T (n.*245A>T) c.552A>T (p.Glu184Asp) c.528A>T c.420A>T c.68A>T (p.Lys23Met) n.584A>T n.718A>T | |
| 14 | g.80203067T>C | CA390765043 | DIO2 | c.444A>G (p.Glu148=) c.*282A>G (n.*282A>G) c.*245A>G (n.*245A>G) c.552A>G (p.Glu184=) c.528A>G c.420A>G c.68A>G (p.Lys23Arg) n.584A>G n.718A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.80203067T>G | CA390765044 | DIO2 | c.444A>C (p.Glu148Asp) c.*282A>C (n.*282A>C) c.*245A>C (n.*245A>C) c.552A>C (p.Glu184Asp) c.528A>C c.420A>C c.68A>C (p.Lys23Thr) n.584A>C n.718A>C | gnomAD v4 |
| 14 | g.80203067T= | CA2149670758 | DIO2 | c.444A= (p.Glu148=) c.*282A= (n.*282A=) c.*245A= (n.*245A=) c.552A= (p.Glu184=) c.528A= c.420A= c.68A= (p.Lys23=) n.584A= n.718A= | |
| 14 | g.80203068T>A | CA390765047 | DIO2 | c.443A>T (p.Glu148Val) c.*281A>T (n.*281A>T) c.*244A>T (n.*244A>T) c.551A>T (p.Glu184Val) c.527A>T c.419A>T c.67A>T (p.Lys23Ter) n.583A>T n.717A>T |