Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.55432133G>A | CA11646873 | CLOCK,TMEM165 | c.*3282C>T (n.*3282C>T) c.352+7490G>A c.408+7490G>A c.898+7490G>A (n.898+7490G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55432133G>C | CA2581420767 | CLOCK,TMEM165 | c.*3282C>G (n.*3282C>G) c.352+7490G>C c.408+7490G>C c.898+7490G>C (n.898+7490G>C) | |
4 | g.55432133G= | CA1459095797 | CLOCK,TMEM165 | c.*3282C= (n.*3282C=) c.352+7490G= c.408+7490G= c.898+7490G= (n.898+7490G=) | |
4 | g.55432133G>T | CA2581420766 | CLOCK,TMEM165 | c.*3282C>A (n.*3282C>A) c.352+7490G>T c.408+7490G>T c.898+7490G>T (n.898+7490G>T) | |
4 | g.55432135A>G | CA2670685458 | CLOCK,TMEM165 | c.*3280T>C (n.*3280T>C) c.352+7492A>G c.408+7492A>G c.898+7492A>G (n.898+7492A>G) | gnomAD v4 |
4 | g.55432136A>C | CA2670685459 | CLOCK,TMEM165 | c.*3279T>G (n.*3279T>G) c.352+7493A>C c.408+7493A>C c.898+7493A>C (n.898+7493A>C) | gnomAD v4 |
4 | g.55432138T>G | CA1062735943 | CLOCK,TMEM165 | c.*3277A>C (n.*3277A>C) c.352+7495T>G c.408+7495T>G c.898+7495T>G (n.898+7495T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432138T= | CA1459095798 | CLOCK,TMEM165 | c.*3277A= (n.*3277A=) c.352+7495T= c.408+7495T= c.898+7495T= (n.898+7495T=) | |
4 | g.55432139T>C | CA96894384 | CLOCK,TMEM165 | c.*3276A>G (n.*3276A>G) c.352+7496T>C c.408+7496T>C c.898+7496T>C (n.898+7496T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55432139T= | CA1459095799 | CLOCK,TMEM165 | c.*3276A= (n.*3276A=) c.352+7496T= c.408+7496T= c.898+7496T= (n.898+7496T=) | |
4 | g.55432140G>T | CA2505070122 | CLOCK,TMEM165 | c.*3275C>A (n.*3275C>A) c.352+7497G>T c.408+7497G>T c.898+7497G>T (n.898+7497G>T) | gnomAD v4 |
4 | g.55432141G>A | CA96894388 | CLOCK,TMEM165 | c.*3274C>T (n.*3274C>T) c.352+7498G>A c.408+7498G>A c.898+7498G>A (n.898+7498G>A) | dbSNP gnomAD v4 |
4 | g.55432141G= | CA1459095800 | CLOCK,TMEM165 | c.*3274C= (n.*3274C=) c.352+7498G= c.408+7498G= c.898+7498G= (n.898+7498G=) | |
4 | g.55432141G>T | CA2670685460 | CLOCK,TMEM165 | c.*3274C>A (n.*3274C>A) c.352+7498G>T c.408+7498G>T c.898+7498G>T (n.898+7498G>T) | gnomAD v4 |
4 | g.55432143A= | CA1459095801 | CLOCK,TMEM165 | c.*3272T= (n.*3272T=) c.352+7500A= c.408+7500A= c.898+7500A= (n.898+7500A=) | |
4 | g.55432143A>G | CA96894391 | CLOCK,TMEM165 | c.*3272T>C (n.*3272T>C) c.352+7500A>G c.408+7500A>G c.898+7500A>G (n.898+7500A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432144T>C | CA796386624 | CLOCK,TMEM165 | c.*3271A>G (n.*3271A>G) c.352+7501T>C c.408+7501T>C c.898+7501T>C (n.898+7501T>C) | dbSNP |
4 | g.55432144T= | CA1459095802 | CLOCK,TMEM165 | c.*3271A= (n.*3271A=) c.352+7501T= c.408+7501T= c.898+7501T= (n.898+7501T=) | |
4 | g.55432145G>A | CA2670685461 | CLOCK,TMEM165 | c.*3270C>T (n.*3270C>T) c.352+7502G>A c.408+7502G>A c.898+7502G>A (n.898+7502G>A) | gnomAD v4 |
4 | g.55432147T>C | CA2670685462 | CLOCK,TMEM165 | c.*3268A>G (n.*3268A>G) c.352+7504T>C c.408+7504T>C c.898+7504T>C (n.898+7504T>C) | gnomAD v4 |
4 | g.55432148C>A | CA2670685463 | CLOCK,TMEM165 | c.*3267G>T (n.*3267G>T) c.352+7505C>A c.408+7505C>A c.898+7505C>A (n.898+7505C>A) | gnomAD v4 |
4 | g.55432148C= | CA1459095803 | CLOCK,TMEM165 | c.*3267G= (n.*3267G=) c.352+7505C= c.408+7505C= c.898+7505C= (n.898+7505C=) | |
4 | g.55432148C>G | CA1062735948 | CLOCK,TMEM165 | c.*3267G>C (n.*3267G>C) c.352+7505C>G c.408+7505C>G c.898+7505C>G (n.898+7505C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432148C>T | CA96894396 | CLOCK,TMEM165 | c.*3267G>A (n.*3267G>A) c.352+7505C>T c.408+7505C>T c.898+7505C>T (n.898+7505C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.55432148_55432149insT | CA648904422 | CLOCK,TMEM165 | c.*3266_*3267insA (n.*3266_*3267insA) c.352+7505_352+7506insT c.408+7505_408+7506insT c.898+7505_898+7506insT (n.898+7505_898+7506insT) | |
4 | g.55432149G>A | CA96894399 | CLOCK,TMEM165 | c.*3266C>T (n.*3266C>T) c.352+7506G>A c.408+7506G>A c.898+7506G>A (n.898+7506G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432149G= | CA1459095804 | CLOCK,TMEM165 | c.*3266C= (n.*3266C=) c.352+7506G= c.408+7506G= c.898+7506G= (n.898+7506G=) | |
4 | g.55432149G>T | CA96894401 | CLOCK,TMEM165 | c.*3266C>A (n.*3266C>A) c.352+7506G>T c.408+7506G>T c.898+7506G>T (n.898+7506G>T) | dbSNP |
4 | g.55432151A>T | CA2670685464 | CLOCK,TMEM165 | c.*3264T>A (n.*3264T>A) c.352+7508A>T c.408+7508A>T c.898+7508A>T (n.898+7508A>T) | gnomAD v4 |
4 | g.55432152G>T | CA2670685465 | CLOCK,TMEM165 | c.*3263C>A (n.*3263C>A) c.352+7509G>T c.408+7509G>T c.898+7509G>T (n.898+7509G>T) | gnomAD v4 |
4 | g.55432153G>A | CA2670685466 | CLOCK,TMEM165 | c.*3262C>T (n.*3262C>T) c.352+7510G>A c.408+7510G>A c.898+7510G>A (n.898+7510G>A) | gnomAD v4 |
4 | g.55432153G>T | CA2670685467 | CLOCK,TMEM165 | c.*3262C>A (n.*3262C>A) c.352+7510G>T c.408+7510G>T c.898+7510G>T (n.898+7510G>T) | gnomAD v4 |
4 | g.55432154C= | CA1459095805 | CLOCK,TMEM165 | c.*3261G= (n.*3261G=) c.352+7511C= c.408+7511C= c.898+7511C= (n.898+7511C=) | |
4 | g.55432154C>G | CA96894405 | CLOCK,TMEM165 | c.*3261G>C (n.*3261G>C) c.352+7511C>G c.408+7511C>G c.898+7511C>G (n.898+7511C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432155T>C | CA2670685468 | CLOCK,TMEM165 | c.*3260A>G (n.*3260A>G) c.352+7512T>C c.408+7512T>C c.898+7512T>C (n.898+7512T>C) | gnomAD v4 |
4 | g.55432155T= | CA1459095806 | CLOCK,TMEM165 | c.*3260A= (n.*3260A=) c.352+7512T= c.408+7512T= c.898+7512T= (n.898+7512T=) | |
4 | g.55432156A= | CA1459095807 | CLOCK,TMEM165 | c.*3259T= (n.*3259T=) c.352+7513A= c.408+7513A= c.898+7513A= (n.898+7513A=) | |
4 | g.55432156A>G | CA96894411 | CLOCK,TMEM165 | c.*3259T>C (n.*3259T>C) c.352+7513A>G c.408+7513A>G c.898+7513A>G (n.898+7513A>G) | dbSNP |
4 | g.55432156_55432164dup | CA1062735956 | CLOCK,TMEM165 | c.*3251_*3259dup (n.*3251_*3259dup) c.352+7513_352+7521dup c.408+7513_408+7521dup c.898+7513_898+7521dup (n.898+7513_898+7521dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432157G>C | CA96894415 | CLOCK,TMEM165 | c.*3258C>G (n.*3258C>G) c.352+7514G>C c.408+7514G>C c.898+7514G>C (n.898+7514G>C) | dbSNP |
4 | g.55432157G= | CA1459095808 | CLOCK,TMEM165 | c.*3258C= (n.*3258C=) c.352+7514G= c.408+7514G= c.898+7514G= (n.898+7514G=) | |
4 | g.55432157G>T | CA2670685469 | CLOCK,TMEM165 | c.*3258C>A (n.*3258C>A) c.352+7514G>T c.408+7514G>T c.898+7514G>T (n.898+7514G>T) | gnomAD v4 |
4 | g.55432158A= | CA1459095809 | CLOCK,TMEM165 | c.*3257T= (n.*3257T=) c.352+7515A= c.408+7515A= c.898+7515A= (n.898+7515A=) | |
4 | g.55432158A>T | CA96894442 | CLOCK,TMEM165 | c.*3257T>A (n.*3257T>A) c.352+7515A>T c.408+7515A>T c.898+7515A>T (n.898+7515A>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432159C>A | CA1062735962 | CLOCK,TMEM165 | c.*3256G>T (n.*3256G>T) c.352+7516C>A c.408+7516C>A c.898+7516C>A (n.898+7516C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55432159C= | CA1459095811 | CLOCK,TMEM165 | c.*3256G= (n.*3256G=) c.352+7516C= c.408+7516C= c.898+7516C= (n.898+7516C=) | |
4 | g.55432159C>T | CA1459095810 | CLOCK,TMEM165 | c.*3256G>A (n.*3256G>A) c.352+7516C>T c.408+7516C>T c.898+7516C>T (n.898+7516C>T) | dbSNP gnomAD v4 |
4 | g.55432160C= | CA1459095812 | CLOCK,TMEM165 | c.*3255G= (n.*3255G=) c.352+7517C= c.408+7517C= c.898+7517C= (n.898+7517C=) | |
4 | g.55432160C>G | CA96894445 | CLOCK,TMEM165 | c.*3255G>C (n.*3255G>C) c.352+7517C>G c.408+7517C>G c.898+7517C>G (n.898+7517C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55432160C>T | CA1062735972 | CLOCK,TMEM165 | c.*3255G>A (n.*3255G>A) c.352+7517C>T c.408+7517C>T c.898+7517C>T (n.898+7517C>T) | dbSNP gnomAD v3 gnomAD v4 |