Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.135446758_135446761delinsTCTG | CA1584519459 | DCANP1,TIFAB | c.*2693_*2696delinsCAGA (n.*2693_*2696delinsCAGA) c.348_351delinsCAGA (p.Ser116=) | |
5 | g.135446764_135446766del | CA3418261 | DCANP1,TIFAB | c.*2693_*2695del (n.*2693_*2695del) c.348_350del (p.Ser116del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135446760T>A | CA3418263 | DCANP1,TIFAB | c.*2694A>T (n.*2694A>T) c.349A>T (p.Arg117Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135446760T>C | CA361020703 | DCANP1,TIFAB | c.*2694A>G (n.*2694A>G) c.349A>G (p.Arg117Gly) | dbSNP |
5 | g.135446760T>G | CA446784847 | DCANP1,TIFAB | c.*2694A>C (n.*2694A>C) c.349A>C (p.Arg117=) | dbSNP |
5 | g.135446760T= | CA1584519461 | DCANP1,TIFAB | c.*2694A= (n.*2694A=) c.349A= (p.Arg117=) | |
5 | g.135446761G>A | CA446784848 | DCANP1,TIFAB | c.*2693C>T (n.*2693C>T) c.348C>T (p.Ser116=) | |
5 | g.135446761G>C | CA361020704 | DCANP1,TIFAB | c.*2693C>G (n.*2693C>G) c.348C>G (p.Ser116Arg) | |
5 | g.135446761G>T | CA361020705 | DCANP1,TIFAB | c.*2693C>A (n.*2693C>A) c.348C>A (p.Ser116Arg) | |
5 | g.135446762C>A | CA361020706 | DCANP1,TIFAB | c.*2692G>T (n.*2692G>T) c.347G>T (p.Ser116Ile) | |
5 | g.135446762C>G | CA361020707 | DCANP1,TIFAB | c.*2692G>C (n.*2692G>C) c.347G>C (p.Ser116Thr) | gnomAD v4 |
5 | g.135446762C>T | CA361020708 | DCANP1,TIFAB | c.*2692G>A (n.*2692G>A) c.347G>A (p.Ser116Asn) | |
5 | g.135446763T>A | CA361020709 | DCANP1,TIFAB | c.*2691A>T (n.*2691A>T) c.346A>T (p.Ser116Cys) | |
5 | g.135446763T>C | CA361020711 | DCANP1,TIFAB | c.*2691A>G (n.*2691A>G) c.346A>G (p.Ser116Gly) | |
5 | g.135446763T>G | CA361020710 | DCANP1,TIFAB | c.*2691A>C (n.*2691A>C) c.346A>C (p.Ser116Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135446763T= | CA1584519462 | DCANP1,TIFAB | c.*2691A= (n.*2691A=) c.346A= (p.Ser116=) | |
5 | g.135446764G>A | CA446784849 | DCANP1,TIFAB | c.*2690C>T (n.*2690C>T) c.345C>T (p.Ser115=) | dbSNP |
5 | g.135446764G>C | CA361020712 | DCANP1,TIFAB | c.*2690C>G (n.*2690C>G) c.345C>G (p.Ser115Arg) | |
5 | g.135446764G= | CA1584519463 | DCANP1,TIFAB | c.*2690C= (n.*2690C=) c.345C= (p.Ser115=) | |
5 | g.135446764G>T | CA361020713 | DCANP1,TIFAB | c.*2690C>A (n.*2690C>A) c.345C>A (p.Ser115Arg) | |
5 | g.135446765C>A | CA361020714 | DCANP1,TIFAB | c.*2689G>T (n.*2689G>T) c.344G>T (p.Ser115Ile) | |
5 | g.135446765C>G | CA361020715 | DCANP1,TIFAB | c.*2689G>C (n.*2689G>C) c.344G>C (p.Ser115Thr) | |
5 | g.135446765C>T | CA361020716 | DCANP1,TIFAB | c.*2689G>A (n.*2689G>A) c.344G>A (p.Ser115Asn) | |
5 | g.135446766T>A | CA361020717 | DCANP1,TIFAB | c.*2688A>T (n.*2688A>T) c.343A>T (p.Ser115Cys) | |
5 | g.135446766T>C | CA361020718 | DCANP1,TIFAB | c.*2688A>G (n.*2688A>G) c.343A>G (p.Ser115Gly) | |
5 | g.135446766T>G | CA361020719 | DCANP1,TIFAB | c.*2688A>C (n.*2688A>C) c.343A>C (p.Ser115Arg) | |
5 | g.135446767A= | CA1584519464 | DCANP1,TIFAB | c.*2687T= (n.*2687T=) c.342T= (p.His114=) | |
5 | g.135446767A>C | CA361020720 | DCANP1,TIFAB | c.*2687T>G (n.*2687T>G) c.342T>G (p.His114Gln) | |
5 | g.135446767A>G | CA3418264 | DCANP1,TIFAB | c.*2687T>C (n.*2687T>C) c.342T>C (p.His114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135446767A>T | CA361020721 | DCANP1,TIFAB | c.*2687T>A (n.*2687T>A) c.342T>A (p.His114Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135446768T>A | CA361020722 | DCANP1,TIFAB | c.*2686A>T (n.*2686A>T) c.341A>T (p.His114Leu) | |
5 | g.135446768T>C | CA361020724 | DCANP1,TIFAB | c.*2686A>G (n.*2686A>G) c.341A>G (p.His114Arg) | |
5 | g.135446768T>G | CA361020723 | DCANP1,TIFAB | c.*2686A>C (n.*2686A>C) c.341A>C (p.His114Pro) | |
5 | g.135446769G>A | CA3418265 | DCANP1,TIFAB | c.*2685C>T (n.*2685C>T) c.340C>T (p.His114Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135446769G>C | CA361020725 | DCANP1,TIFAB | c.*2685C>G (n.*2685C>G) c.340C>G (p.His114Asp) | |
5 | g.135446769G= | CA1584519465 | DCANP1,TIFAB | c.*2685C= (n.*2685C=) c.340C= (p.His114=) | |
5 | g.135446769G>T | CA361020726 | DCANP1,TIFAB | c.*2685C>A (n.*2685C>A) c.340C>A (p.His114Asn) | |
5 | g.135446770C>A | CA446784850 | DCANP1,TIFAB | c.*2684G>T (n.*2684G>T) c.339G>T (p.Leu113=) | |
5 | g.135446770C>G | CA446784851 | DCANP1,TIFAB | c.*2684G>C (n.*2684G>C) c.339G>C (p.Leu113=) | |
5 | g.135446770C>T | CA446784852 | DCANP1,TIFAB | c.*2684G>A (n.*2684G>A) c.339G>A (p.Leu113=) | |
5 | g.135446771A= | CA1584519466 | DCANP1,TIFAB | c.*2683T= (n.*2683T=) c.338T= (p.Leu113=) | |
5 | g.135446771A>C | CA361020727 | DCANP1,TIFAB | c.*2683T>G (n.*2683T>G) c.338T>G (p.Leu113Arg) | |
5 | g.135446771A>G | CA361020728 | DCANP1,TIFAB | c.*2683T>C (n.*2683T>C) c.338T>C (p.Leu113Pro) | |
5 | g.135446771A>T | CA3418266 | DCANP1,TIFAB | c.*2683T>A (n.*2683T>A) c.338T>A (p.Leu113Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135446772G>A | CA3418267 | DCANP1,TIFAB | c.*2682C>T (n.*2682C>T) c.337C>T (p.Leu113=) | dbSNP ExAC gnomAD v2 |
5 | g.135446772G>C | CA361020729 | DCANP1,TIFAB | c.*2682C>G (n.*2682C>G) c.337C>G (p.Leu113Val) | |
5 | g.135446772G= | CA1584519467 | DCANP1,TIFAB | c.*2682C= (n.*2682C=) c.337C= (p.Leu113=) | |
5 | g.135446772G>T | CA361020730 | DCANP1,TIFAB | c.*2682C>A (n.*2682C>A) c.337C>A (p.Leu113Met) | |
5 | g.135446773T>A | CA361020731 | DCANP1,TIFAB | c.*2681A>T (n.*2681A>T) c.336A>T (p.Glu112Asp) | |
5 | g.135446773T>C | CA446784853 | DCANP1,TIFAB | c.*2681A>G (n.*2681A>G) c.336A>G (p.Glu112=) |