| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67436580T>C | CA623119630 | HSD11B2 | c.803-8T>C (n.803-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.67436580T>G | CA2576029229 | HSD11B2 | c.803-8T>G (n.803-8T>G) | |
| 16 | g.67436580T= | CA2229310349 | HSD11B2 | c.803-8T= (n.803-8T=) | |
| 16 | g.67436582C= | CA2229310352 | HSD11B2 | c.803-6C= (n.803-6C=) | |
| 16 | g.67436582C>T | CA623119632 | HSD11B2 | c.803-6C>T (n.803-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67436583C>T | CA2633780210 | HSD11B2 | c.803-5C>T (n.803-5C>T) | gnomAD v4 |
| 16 | g.67436584C= | CA2229310354 | HSD11B2 | c.803-4C= (n.803-4C=) | |
| 16 | g.67436584C>G | CA8110756 | HSD11B2 | c.803-4C>G (n.803-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67436584C>T | CA2576029230 | HSD11B2 | c.803-4C>T (n.803-4C>T) | |
| 16 | g.67436586A>C | CA396281539 | HSD11B2 | c.803-2A>C (n.803-2A>C) | |
| 16 | g.67436586A>G | CA396281542 | HSD11B2 | c.803-2A>G (n.803-2A>G) | gnomAD v4 |
| 16 | g.67436586A>T | CA396281544 | HSD11B2 | c.803-2A>T (n.803-2A>T) | |
| 16 | g.67436588_67436589del | CA2633780219 | HSD11B2 | c.803_804del | gnomAD v4 |
| 16 | g.67436587G>A | CA396281546 | HSD11B2 | c.803-1G>A (n.803-1G>A) | |
| 16 | g.67436587G>C | CA396281547 | HSD11B2 | c.803-1G>C (n.803-1G>C) | |
| 16 | g.67436587G>T | CA396281548 | HSD11B2 | c.803-1G>T (n.803-1G>T) | gnomAD v4 |
| 16 | g.67436588A= | CA2229310356 | HSD11B2 | c.803A= (p.Glu268=) | |
| 16 | g.67436588A>C | CA396281551 | HSD11B2 | c.803A>C (p.Glu268Ala) | |
| 16 | g.67436588A>G | CA8110757 | HSD11B2 | c.803A>G (p.Glu268Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67436588A>T | CA396281549 | HSD11B2 | c.803A>T (p.Glu268Val) | |
| 16 | g.67436589G>A | CA496082961 | HSD11B2 | c.804G>A (p.Glu268=) | |
| 16 | g.67436589G>C | CA396281552 | HSD11B2 | c.804G>C (p.Glu268Asp) | |
| 16 | g.67436589G>T | CA396281554 | HSD11B2 | c.804G>T (p.Glu268Asp) | |
| 16 | g.67436590T>A | CA396281559 | HSD11B2 | c.805T>A (p.Ser269Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.67436590T>C | CA396281563 | HSD11B2 | c.805T>C (p.Ser269Pro) | |
| 16 | g.67436590T>G | CA396281565 | HSD11B2 | c.805T>G (p.Ser269Ala) | |
| 16 | g.67436590T= | CA2229310359 | HSD11B2 | c.805T= (p.Ser269=) | |
| 16 | g.67436591C>A | CA396281568 | HSD11B2 | c.806C>A (p.Ser269Ter) | gnomAD v4 |
| 16 | g.67436591C>G | CA396281571 | HSD11B2 | c.806C>G (p.Ser269Ter) | |
| 16 | g.67436591C>T | CA396281575 | HSD11B2 | c.806C>T (p.Ser269Leu) | |
| 16 | g.67436592A>C | CA496082962 | HSD11B2 | c.807A>C (p.Ser269=) | |
| 16 | g.67436592A>G | CA496082963 | HSD11B2 | c.807A>G (p.Ser269=) | |
| 16 | g.67436592A>T | CA496082964 | HSD11B2 | c.807A>T (p.Ser269=) | |
| 16 | g.67436593G>A | CA396281579 | HSD11B2 | c.808G>A (p.Val270Met) | gnomAD v4 |
| 16 | g.67436593G>C | CA396281581 | HSD11B2 | c.808G>C (p.Val270Leu) | |
| 16 | g.67436593G>T | CA396281583 | HSD11B2 | c.808G>T (p.Val270Leu) | |
| 16 | g.67436594T>A | CA396281596 | HSD11B2 | c.809T>A (p.Val270Glu) | |
| 16 | g.67436594T>C | CA396281594 | HSD11B2 | c.809T>C (p.Val270Ala) | |
| 16 | g.67436594T>G | CA396281588 | HSD11B2 | c.809T>G (p.Val270Gly) | gnomAD v4 |
| 16 | g.67436595G>A | CA8110758 | HSD11B2 | c.810G>A (p.Val270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67436595G>C | CA496082966 | HSD11B2 | c.810G>C (p.Val270=) | |
| 16 | g.67436595G= | CA2229310363 | HSD11B2 | c.810G= (p.Val270=) | |
| 16 | g.67436595G>T | CA496082965 | HSD11B2 | c.810G>T (p.Val270=) | |
| 16 | g.67436596A>C | CA496082967 | HSD11B2 | c.811A>C (p.Arg271=) | |
| 16 | g.67436596A>G | CA396281601 | HSD11B2 | c.811A>G (p.Arg271Gly) | |
| 16 | g.67436596A>T | CA396281604 | HSD11B2 | c.811A>T (p.Arg271Ter) | |
| 16 | g.67436597G>A | CA396281609 | HSD11B2 | c.812G>A (p.Arg271Lys) | |
| 16 | g.67436597G>C | CA396281611 | HSD11B2 | c.812G>C (p.Arg271Thr) | |
| 16 | g.67436597G>T | CA396281613 | HSD11B2 | c.812G>T (p.Arg271Ile) | |
| 16 | g.67436598A>C | CA396281620 | HSD11B2 | c.813A>C (p.Arg271Ser) | gnomAD v4 |