Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67436149_67436151delinsGCC | CA2229309778 | HSD11B2 | c.664+7_664+9delinsGCC (n.664+7_664+9delinsGCC) n.527+7_527+9delinsGCC | |
16 | g.67436158dup | CA8110679 | HSD11B2 | c.664+16dup (n.664+16dup) n.527+16dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436157_67436158dup | CA8110681 | HSD11B2 | c.664+15_664+16dup (n.664+15_664+16dup) n.527+15_527+16dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436158del | CA8110680 | HSD11B2 | c.664+16del (n.664+16del) n.527+16del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436157_67436158del | CA2229309789 | HSD11B2 | c.664+15_664+16del (n.664+15_664+16del) n.527+15_527+16del | dbSNP |
16 | g.67436151C>A | CA8110682 | HSD11B2 | c.664+9C>A (n.664+9C>A) n.527+9C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436151C= | CA2229309795 | HSD11B2 | c.664+9C= (n.664+9C=) n.527+9C= | |
16 | g.67436151C>T | CA623119570 | HSD11B2 | c.664+9C>T (n.664+9C>T) n.527+9C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436152C>A | CA623119571 | HSD11B2 | c.664+10C>A (n.664+10C>A) n.527+10C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436152C= | CA2229309797 | HSD11B2 | c.664+10C= (n.664+10C=) n.527+10C= | |
16 | g.67436152C>G | CA2633779319 | HSD11B2 | c.664+10C>G (n.664+10C>G) n.527+10C>G | gnomAD v4 |
16 | g.67436153C>A | CA2229309800 | HSD11B2 | c.664+11C>A (n.664+11C>A) n.527+11C>A | dbSNP gnomAD v4 |
16 | g.67436153C= | CA2229309799 | HSD11B2 | c.664+11C= (n.664+11C=) n.527+11C= | |
16 | g.67436153C>G | CA8110683 | HSD11B2 | c.664+11C>G (n.664+11C>G) n.527+11C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436154C>A | CA282322576 | HSD11B2 | c.664+12C>A (n.664+12C>A) n.527+12C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436154C= | CA2229309804 | HSD11B2 | c.664+12C= (n.664+12C=) n.527+12C= | |
16 | g.67436154C>G | CA723036802 | HSD11B2 | c.664+12C>G (n.664+12C>G) n.527+12C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436154C>T | CA2229309802 | HSD11B2 | c.664+12C>T (n.664+12C>T) n.527+12C>T | dbSNP |
16 | g.67436155C>A | CA8110685 | HSD11B2 | c.664+13C>A (n.664+13C>A) n.527+13C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436155C= | CA2229309808 | HSD11B2 | c.664+13C= (n.664+13C=) n.527+13C= | |
16 | g.67436155C>G | CA8110684 | HSD11B2 | c.664+13C>G (n.664+13C>G) n.527+13C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436155C>T | CA282322582 | HSD11B2 | c.664+13C>T (n.664+13C>T) n.527+13C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436156C>A | CA8110687 | HSD11B2 | c.664+14C>A (n.664+14C>A) n.527+14C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436156C= | CA2229309811 | HSD11B2 | c.664+14C= (n.664+14C=) n.527+14C= | |
16 | g.67436156C>G | CA8110686 | HSD11B2 | c.664+14C>G (n.664+14C>G) n.527+14C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436156C>T | CA213041 | HSD11B2 | c.664+14C>T (n.664+14C>T) n.527+14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436157C>A | CA8110689 | HSD11B2 | c.664+15C>A (n.664+15C>A) n.527+15C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436157C= | CA2229309816 | HSD11B2 | c.664+15C= (n.664+15C=) n.527+15C= | |
16 | g.67436157C>G | CA8110688 | HSD11B2 | c.664+15C>G (n.664+15C>G) n.527+15C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436157C>T | CA282322617 | HSD11B2 | c.664+15C>T (n.664+15C>T) n.527+15C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436158C>A | CA8110690 | HSD11B2 | c.664+16C>A (n.664+16C>A) n.527+16C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436158C= | CA2229309818 | HSD11B2 | c.664+16C= (n.664+16C=) n.527+16C= | |
16 | g.67436158C>G | CA8110691 | HSD11B2 | c.664+16C>G (n.664+16C>G) n.527+16C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436158C>T | CA8110692 | HSD11B2 | c.664+16C>T (n.664+16C>T) n.527+16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436159del | CA2633779350 | HSD11B2 | c.664+17del (n.664+17del) n.527+17del | gnomAD v4 |
16 | g.67436159A= | CA2229309825 | HSD11B2 | c.664+17A= (n.664+17A=) n.527+17A= | |
16 | g.67436159A>C | CA8110693 | HSD11B2 | c.664+17A>C (n.664+17A>C) n.527+17A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436159dup | CA623119572 | HSD11B2 | c.664+17dup (n.664+17dup) n.527+17dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436160C>A | CA623119573 | HSD11B2 | c.664+18C>A (n.664+18C>A) n.527+18C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436160C= | CA2229309827 | HSD11B2 | c.664+18C= (n.664+18C=) n.527+18C= | |
16 | g.67436160C>G | CA8110694 | HSD11B2 | c.664+18C>G (n.664+18C>G) n.527+18C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436160dup | CA2576029160 | HSD11B2 | c.664+18dup (n.664+18dup) n.527+18dup | gnomAD v4 |
16 | g.67436161T>A | CA623119574 | HSD11B2 | c.664+19T>A (n.664+19T>A) n.527+19T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436161T>C | CA2555182318 | HSD11B2 | c.664+19T>C (n.664+19T>C) n.527+19T>C | |
16 | g.67436161T= | CA2229309831 | HSD11B2 | c.664+19T= (n.664+19T=) n.527+19T= | |
16 | g.67436162G>A | CA8110695 | HSD11B2 | c.664+20G>A (n.664+20G>A) n.527+20G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436162G= | CA2229309833 | HSD11B2 | c.664+20G= (n.664+20G=) n.527+20G= | |
16 | g.67436163G>A | CA8110696 | HSD11B2 | c.664+21G>A (n.664+21G>A) n.527+21G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436163G= | CA2229309835 | HSD11B2 | c.664+21G= (n.664+21G=) n.527+21G= | |
16 | g.67436166C= | CA2229309838 | HSD11B2 | c.664+24C= (n.664+24C=) n.527+24C= |