| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.80203049A>C | CA390764993 | DIO2 | c.462T>G (p.Ala154=) c.*300T>G (n.*300T>G) c.*263T>G (n.*263T>G) c.570T>G (p.Ala190=) c.546T>G c.438T>G c.86T>G (p.Leu29Arg) n.602T>G n.736T>G | |
| 14 | g.80203049A>G | CA390764994 | DIO2 | c.462T>C (p.Ala154=) c.*300T>C (n.*300T>C) c.*263T>C (n.*263T>C) c.570T>C (p.Ala190=) c.546T>C c.438T>C c.86T>C (p.Leu29Pro) n.602T>C n.736T>C | gnomAD v4 |
| 14 | g.80203049A>T | CA390764995 | DIO2 | c.462T>A (p.Ala154=) c.*300T>A (n.*300T>A) c.*263T>A (n.*263T>A) c.570T>A (p.Ala190=) c.546T>A c.438T>A c.86T>A (p.Leu29Gln) n.602T>A n.736T>A | |
| 14 | g.80203050G>A | CA390764996 | DIO2 | c.461C>T (p.Ala154Val) c.*299C>T (n.*299C>T) c.*262C>T (n.*262C>T) c.569C>T (p.Ala190Val) c.545C>T c.437C>T c.85C>T (p.Leu29=) n.601C>T n.735C>T | COSMIC COSMIC |
| 14 | g.80203050G>C | CA390764998 | DIO2 | c.461C>G (p.Ala154Gly) c.*299C>G (n.*299C>G) c.*262C>G (n.*262C>G) c.569C>G (p.Ala190Gly) c.545C>G c.437C>G c.85C>G (p.Leu29Val) n.601C>G n.735C>G | |
| 14 | g.80203050G>T | CA390764997 | DIO2 | c.461C>A (p.Ala154Asp) c.*299C>A (n.*299C>A) c.*262C>A (n.*262C>A) c.569C>A (p.Ala190Asp) c.545C>A c.437C>A c.85C>A (p.Leu29Met) n.601C>A n.735C>A | |
| 14 | g.80203051C>A | CA390764999 | DIO2 | c.460G>T (p.Ala154Ser) c.*298G>T (n.*298G>T) c.*261G>T (n.*261G>T) c.568G>T (p.Ala190Ser) c.544G>T c.436G>T c.84G>T (p.Trp28Cys) n.600G>T n.734G>T | COSMIC |
| 14 | g.80203051C>G | CA390765000 | DIO2 | c.460G>C (p.Ala154Pro) c.*298G>C (n.*298G>C) c.*261G>C (n.*261G>C) c.568G>C (p.Ala190Pro) c.544G>C c.436G>C c.84G>C (p.Trp28Cys) n.600G>C n.734G>C | |
| 14 | g.80203051C>T | CA390765001 | DIO2 | c.460G>A (p.Ala154Thr) c.*298G>A (n.*298G>A) c.*261G>A (n.*261G>A) c.568G>A (p.Ala190Thr) c.544G>A c.436G>A c.84G>A (p.Trp28Ter) n.600G>A n.734G>A | gnomAD v4 COSMIC COSMIC |
| 14 | g.80203052C>A | CA390765002 | DIO2 | c.459G>T (p.Val153=) c.*297G>T (n.*297G>T) c.*260G>T (n.*260G>T) c.567G>T (p.Val189=) c.543G>T c.435G>T c.83G>T (p.Trp28Leu) n.599G>T n.733G>T | |
| 14 | g.80203052C>G | CA390765003 | DIO2 | c.459G>C (p.Val153=) c.*297G>C (n.*297G>C) c.*260G>C (n.*260G>C) c.567G>C (p.Val189=) c.543G>C c.435G>C c.83G>C (p.Trp28Ser) n.599G>C n.733G>C | |
| 14 | g.80203052C>T | CA390765004 | DIO2 | c.459G>A (p.Val153=) c.*297G>A (n.*297G>A) c.*260G>A (n.*260G>A) c.567G>A (p.Val189=) c.543G>A c.435G>A c.83G>A (p.Trp28Ter) n.599G>A n.733G>A | |
| 14 | g.80203053A= | CA2149670733 | DIO2 | c.458T= (p.Val153=) c.*296T= (n.*296T=) c.*259T= (n.*259T=) c.566T= (p.Val189=) c.542T= c.434T= c.82T= (p.Trp28=) n.598T= n.732T= | |
| 14 | g.80203053A>C | CA390765005 | DIO2 | c.458T>G (p.Val153Gly) c.*296T>G (n.*296T>G) c.*259T>G (n.*259T>G) c.566T>G (p.Val189Gly) c.542T>G c.434T>G c.82T>G (p.Trp28Gly) n.598T>G n.732T>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.80203053A>G | CA7292629 | DIO2 | c.458T>C (p.Val153Ala) c.*296T>C (n.*296T>C) c.*259T>C (n.*259T>C) c.566T>C (p.Val189Ala) c.542T>C c.434T>C c.82T>C (p.Trp28Arg) n.598T>C n.732T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.80203053A>T | CA390765006 | DIO2 | c.458T>A (p.Val153Glu) c.*296T>A (n.*296T>A) c.*259T>A (n.*259T>A) c.566T>A (p.Val189Glu) c.542T>A c.434T>A c.82T>A (p.Trp28Arg) n.598T>A n.732T>A | |
| 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 |