| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.80203044A>C | CA390764980 | DIO2 | c.467T>G (p.Phe156Cys) c.*305T>G (n.*305T>G) c.*268T>G (n.*268T>G) c.575T>G (p.Phe192Cys) c.551T>G c.443T>G c.91T>G (p.Ser31Ala) n.607T>G n.741T>G | |
| 14 | g.80203044A>G | CA390764979 | DIO2 | c.467T>C (p.Phe156Ser) c.*305T>C (n.*305T>C) c.*268T>C (n.*268T>C) c.575T>C (p.Phe192Ser) c.551T>C c.443T>C c.91T>C (p.Ser31Pro) n.607T>C n.741T>C | |
| 14 | g.80203044A>T | CA390764978 | DIO2 | c.467T>A (p.Phe156Tyr) c.*305T>A (n.*305T>A) c.*268T>A (n.*268T>A) c.575T>A (p.Phe192Tyr) c.551T>A c.443T>A c.91T>A (p.Ser31Thr) n.607T>A n.741T>A | |
| 14 | g.80203045A>C | CA390764981 | DIO2 | c.466T>G (p.Phe156Val) c.*304T>G (n.*304T>G) c.*267T>G (n.*267T>G) c.574T>G (p.Phe192Val) c.550T>G c.442T>G c.90T>G (p.Thr30=) n.606T>G n.740T>G | |
| 14 | g.80203045A>G | CA390764982 | DIO2 | c.466T>C (p.Phe156Leu) c.*304T>C (n.*304T>C) c.*267T>C (n.*267T>C) c.574T>C (p.Phe192Leu) c.550T>C c.442T>C c.90T>C (p.Thr30=) n.606T>C n.740T>C | |
| 14 | g.80203045A>T | CA390764983 | DIO2 | c.466T>A (p.Phe156Ile) c.*304T>A (n.*304T>A) c.*267T>A (n.*267T>A) c.574T>A (p.Phe192Ile) c.550T>A c.442T>A c.90T>A (p.Thr30=) n.606T>A n.740T>A | |
| 14 | g.80203046G>A | CA390764984 | DIO2 | c.465C>T (p.Asp155=) c.*303C>T (n.*303C>T) c.*266C>T (n.*266C>T) c.573C>T (p.Asp191=) c.549C>T c.441C>T c.89C>T (p.Thr30Ile) n.605C>T n.739C>T | |
| 14 | g.80203046G>C | CA390764985 | DIO2 | c.465C>G (p.Asp155Glu) c.*303C>G (n.*303C>G) c.*266C>G (n.*266C>G) c.573C>G (p.Asp191Glu) c.549C>G c.441C>G c.89C>G (p.Thr30Ser) n.605C>G n.739C>G | |
| 14 | g.80203046G>T | CA390764986 | DIO2 | c.465C>A (p.Asp155Glu) c.*303C>A (n.*303C>A) c.*266C>A (n.*266C>A) c.573C>A (p.Asp191Glu) c.549C>A c.441C>A c.89C>A (p.Thr30Asn) n.605C>A n.739C>A | |
| 14 | g.80203047T>A | CA390764989 | DIO2 | c.464A>T (p.Asp155Val) c.*302A>T (n.*302A>T) c.*265A>T (n.*265A>T) c.572A>T (p.Asp191Val) c.548A>T c.440A>T c.88A>T (p.Thr30Ser) n.604A>T n.738A>T | |
| 14 | g.80203047T>C | CA390764988 | DIO2 | c.464A>G (p.Asp155Gly) c.*302A>G (n.*302A>G) c.*265A>G (n.*265A>G) c.572A>G (p.Asp191Gly) c.548A>G c.440A>G c.88A>G (p.Thr30Ala) n.604A>G n.738A>G | |
| 14 | g.80203047T>G | CA390764987 | DIO2 | c.464A>C (p.Asp155Ala) c.*302A>C (n.*302A>C) c.*265A>C (n.*265A>C) c.572A>C (p.Asp191Ala) c.548A>C c.440A>C c.88A>C (p.Thr30Pro) n.604A>C n.738A>C | |
| 14 | g.80203048C>A | CA390764990 | DIO2 | c.463G>T (p.Asp155Tyr) c.*301G>T (n.*301G>T) c.*264G>T (n.*264G>T) c.571G>T (p.Asp191Tyr) c.547G>T c.439G>T c.87G>T (p.Leu29=) n.603G>T n.737G>T | |
| 14 | g.80203048C= | CA2149670731 | DIO2 | c.463G= (p.Asp155=) c.*301G= (n.*301G=) c.*264G= (n.*264G=) c.571G= (p.Asp191=) c.547G= c.439G= c.87G= (p.Leu29=) n.603G= n.737G= | |
| 14 | g.80203048C>G | CA390764991 | DIO2 | c.463G>C (p.Asp155His) c.*301G>C (n.*301G>C) c.*264G>C (n.*264G>C) c.571G>C (p.Asp191His) c.547G>C c.439G>C c.87G>C (p.Leu29=) n.603G>C n.737G>C | |
| 14 | g.80203048C>T | CA390764992 | DIO2 | c.463G>A (p.Asp155Asn) c.*301G>A (n.*301G>A) c.*264G>A (n.*264G>A) c.571G>A (p.Asp191Asn) c.547G>A c.439G>A c.87G>A (p.Leu29=) n.603G>A n.737G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |