| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10641538del | CA16616203 | JAG1 | c.2840del (p.Lys947SerfsTer23) n.2706del | ClinVar dbSNP |
| 20 | g.10641538T>A | CA509816027 | JAG1 | c.2838A>T (p.Thr946=) n.2704A>T | |
| 20 | g.10641538T>C | CA509816028 | JAG1 | c.2838A>G (p.Thr946=) n.2704A>G | |
| 20 | g.10641538T>G | CA509816029 | JAG1 | c.2838A>C (p.Thr946=) n.2704A>C | |
| 20 | g.10641539G>A | CA9764383 | JAG1 | c.2837C>T (p.Thr946Ile) n.2703C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641539G>C | CA408244868 | JAG1 | c.2837C>G (p.Thr946Arg) n.2703C>G | |
| 20 | g.10641539G= | CA2349880882 | JAG1 | c.2837C= (p.Thr946=) n.2703C= | |
| 20 | g.10641539G>T | CA408244869 | JAG1 | c.2837C>A (p.Thr946Lys) n.2703C>A | gnomAD v4 |
| 20 | g.10641540del | CA2695229647 | JAG1 | c.2836del (p.Thr946GlnfsTer24) n.2702del | |
| 20 | g.10641540T>A | CA408244870 | JAG1 | c.2836A>T (p.Thr946Ser) n.2702A>T | |
| 20 | g.10641540T>C | CA408244871 | JAG1 | c.2836A>G (p.Thr946Ala) n.2702A>G | |
| 20 | g.10641540T>G | CA408244872 | JAG1 | c.2836A>C (p.Thr946Pro) n.2702A>C | |
| 20 | g.10641541C>A | CA408244873 | JAG1 | c.2835G>T (p.Lys945Asn) n.2701G>T | dbSNP |
| 20 | g.10641541C= | CA2349880883 | JAG1 | c.2835G= (p.Lys945=) n.2701G= | |
| 20 | g.10641541C>G | CA408244874 | JAG1 | c.2835G>C (p.Lys945Asn) n.2701G>C | |
| 20 | g.10641541C>T | CA509816034 | JAG1 | c.2835G>A (p.Lys945=) n.2701G>A | |
| 20 | g.10641542T>A | CA408244875 | JAG1 | c.2834A>T (p.Lys945Met) n.2700A>T | |
| 20 | g.10641542T>C | CA408244876 | JAG1 | c.2834A>G (p.Lys945Arg) n.2700A>G | dbSNP |
| 20 | g.10641542T>G | CA408244877 | JAG1 | c.2834A>C (p.Lys945Thr) n.2700A>C | |
| 20 | g.10641542T= | CA2349880884 | JAG1 | c.2834A= (p.Lys945=) n.2700A= | |
| 20 | g.10641543T>A | CA408244878 | JAG1 | c.2833A>T (p.Lys945Ter) n.2699A>T | |
| 20 | g.10641543T>C | CA408244879 | JAG1 | c.2833A>G (p.Lys945Glu) n.2699A>G | |
| 20 | g.10641543T>G | CA408244880 | JAG1 | c.2833A>C (p.Lys945Gln) n.2699A>C | |
| 20 | g.10641544C>A | CA509816036 | JAG1 | c.2832G>T (p.Val944=) n.2698G>T | |
| 20 | g.10641544C>G | CA509816037 | JAG1 | c.2832G>C (p.Val944=) n.2698G>C | |
| 20 | g.10641544C>T | CA509816038 | JAG1 | c.2832G>A (p.Val944=) n.2698G>A | COSMIC COSMIC |
| 20 | g.10641545A= | CA2349880886 | JAG1 | c.2831T= (p.Val944=) n.2697T= | |
| 20 | g.10641545A>C | CA408244881 | JAG1 | c.2831T>G (p.Val944Gly) n.2697T>G | |
| 20 | g.10641545A>G | CA408244882 | JAG1 | c.2831T>C (p.Val944Ala) n.2697T>C | |
| 20 | g.10641545A>T | CA311368737 | JAG1 | c.2831T>A (p.Val944Glu) n.2697T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641545_10641546delinsAC | CA2349880885 | JAG1 | c.2830_2831delinsGT (p.Val944=) n.2696_2697delinsGT | |
| 20 | g.10641547_10641557del | CA2695229648 | JAG1 | c.2821_2831del (p.Leu941GlufsTer7) n.2687_2697del | |
| 20 | g.10641546C>A | CA408244883 | JAG1 | c.2830G>T (p.Val944Leu) n.2696G>T | |
| 20 | g.10641546C>G | CA408244884 | JAG1 | c.2830G>C (p.Val944Leu) n.2696G>C | |
| 20 | g.10641546C>T | CA408244885 | JAG1 | c.2830G>A (p.Val944Met) n.2696G>A | gnomAD v4 |
| 20 | g.10641547dup | CA2695229649 | JAG1 | c.2830dup (p.Val944GlyfsTer8) n.2696dup | |
| 20 | g.10641547del | CA658799326 | JAG1 | c.2830del (p.Val944Ter) n.2696del | ClinVar dbSNP |
| 20 | g.10641547C>A | CA311368743 | JAG1 | c.2829G>T (p.Pro943=) n.2695G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641547C= | CA2349880887 | JAG1 | c.2829G= (p.Pro943=) n.2695G= | |
| 20 | g.10641547C>G | CA509816042 | JAG1 | c.2829G>C (p.Pro943=) n.2695G>C | |
| 20 | g.10641547C>T | CA9764384 | JAG1 | c.2829G>A (p.Pro943=) n.2695G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10641548G>A | CA9764385 | JAG1 | c.2828C>T (p.Pro943Leu) n.2694C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10641548G>C | CA408244886 | JAG1 | c.2828C>G (p.Pro943Arg) n.2694C>G | |
| 20 | g.10641548G= | CA2349880888 | JAG1 | c.2828C= (p.Pro943=) n.2694C= | |
| 20 | g.10641548G>T | CA408244887 | JAG1 | c.2828C>A (p.Pro943Gln) n.2694C>A | |
| 20 | g.10641549G>A | CA9764386 | JAG1 | c.2827C>T (p.Pro943Ser) n.2693C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641549G>C | CA408244888 | JAG1 | c.2827C>G (p.Pro943Ala) n.2693C>G | |
| 20 | g.10641549G= | CA2349880889 | JAG1 | c.2827C= (p.Pro943=) n.2693C= | |
| 20 | g.10641549G>T | CA408244889 | JAG1 | c.2827C>A (p.Pro943Thr) n.2693C>A | |
| 20 | g.10641550C>A | CA408244891 | JAG1 | c.2826G>T (p.Gln942His) n.2692G>T |