16 | g.67436271G>A | CA496082847 | HSD11B2 | c.687G>A (p.Leu229=)
| |
16 | g.67436271G>C | CA396280241 | HSD11B2 | c.687G>C (p.Leu229Phe)
| |
16 | g.67436271G>T | CA396280239 | HSD11B2 | c.687G>T (p.Leu229Phe)
| |
16 | g.67436272G>A | CA396280244 | HSD11B2 | c.688G>A (p.Gly230Arg)
| COSMIC |
16 | g.67436272G>C | CA396280246 | HSD11B2 | c.688G>C (p.Gly230Arg)
| |
16 | g.67436272G>T | CA396280249 | HSD11B2 | c.688G>T (p.Gly230Trp)
| |
16 | g.67436273G>A | CA396280251 | HSD11B2 | c.689G>A (p.Gly230Glu)
| gnomAD v4 COSMIC |
16 | g.67436273G>C | CA396280253 | HSD11B2 | c.689G>C (p.Gly230Ala)
| |
16 | g.67436273G>T | CA396280256 | HSD11B2 | c.689G>T (p.Gly230Val)
| |
16 | g.67436274G>A | CA496082852 | HSD11B2 | c.690G>A (p.Gly230=)
| gnomAD v4 |
16 | g.67436274G>C | CA496082851 | HSD11B2 | c.690G>C (p.Gly230=)
| |
16 | g.67436274G>T | CA496082850 | HSD11B2 | c.690G>T (p.Gly230=)
| |
16 | g.67436275G>A | CA396280269 | HSD11B2 | c.691G>A (p.Ala231Thr)
| |
16 | g.67436275G>C | CA396280263 | HSD11B2 | c.691G>C (p.Ala231Pro)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.67436275G= | CA2229310001 | HSD11B2 | c.691G= (p.Ala231=)
| |
16 | g.67436275G>T | CA396280265 | HSD11B2 | c.691G>T (p.Ala231Ser)
| |
16 | g.67436275_67436284delinsGCCTATGGAA | CA2229310000 | HSD11B2 | c.691_700delinsGCCTATGGAA (p.Ala231=)
| |
16 | g.67436276C>A | CA396280276 | HSD11B2 | c.692C>A (p.Ala231Asp)
| |
16 | g.67436276C>G | CA396280292 | HSD11B2 | c.692C>G (p.Ala231Gly)
| |
16 | g.67436276C>T | CA396280295 | HSD11B2 | c.692C>T (p.Ala231Val)
| |
16 | g.67436279_67436287del | CA8110721 | HSD11B2 | c.695_703del (p.Tyr232_Thr234del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436277C>A | CA496082858 | HSD11B2 | c.693C>A (p.Ala231=)
| |
16 | g.67436277C>G | CA496082860 | HSD11B2 | c.693C>G (p.Ala231=)
| |
16 | g.67436277C>T | CA496082862 | HSD11B2 | c.693C>T (p.Ala231=)
| |
16 | g.67436278T>A | CA396280297 | HSD11B2 | c.694T>A (p.Tyr232Asn)
| |
16 | g.67436278T>C | CA396280304 | HSD11B2 | c.694T>C (p.Tyr232His)
| |
16 | g.67436278T>G | CA396280300 | HSD11B2 | c.694T>G (p.Tyr232Asp)
| |
16 | g.67436279A>C | CA396280312 | HSD11B2 | c.695A>C (p.Tyr232Ser)
| |
16 | g.67436279A>G | CA396280314 | HSD11B2 | c.695A>G (p.Tyr232Cys)
| gnomAD v4 |
16 | g.67436279A>T | CA396280316 | HSD11B2 | c.695A>T (p.Tyr232Phe)
| |
16 | g.67436280T>A | CA396280319 | HSD11B2 | c.696T>A (p.Tyr232Ter)
| |
16 | g.67436280T>C | CA8110722 | HSD11B2 | c.696T>C (p.Tyr232=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436280T>G | CA396280332 | HSD11B2 | c.696T>G (p.Tyr232Ter)
| |
16 | g.67436280T= | CA2229310004 | HSD11B2 | c.696T= (p.Tyr232=)
| |
16 | g.67436281G>A | CA396280340 | HSD11B2 | c.697G>A (p.Gly233Arg)
| |
16 | g.67436281G>C | CA396280347 | HSD11B2 | c.697G>C (p.Gly233Arg)
| |
16 | g.67436281G>T | CA396280348 | HSD11B2 | c.697G>T (p.Gly233Ter)
| |
16 | g.67436282G>A | CA282322862 | HSD11B2 | c.698G>A (p.Gly233Glu)
| dbSNP |
16 | g.67436282G>C | CA396280353 | HSD11B2 | c.698G>C (p.Gly233Ala)
| |
16 | g.67436282G= | CA2229310007 | HSD11B2 | c.698G= (p.Gly233=)
| |
16 | g.67436282G>T | CA396280355 | HSD11B2 | c.698G>T (p.Gly233Val)
| COSMIC |
16 | g.67436283A= | CA2229310009 | HSD11B2 | c.699A= (p.Gly233=)
| |
16 | g.67436283A>C | CA496082869 | HSD11B2 | c.699A>C (p.Gly233=)
| |
16 | g.67436283A>G | CA496082870 | HSD11B2 | c.699A>G (p.Gly233=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436283A>T | CA496082871 | HSD11B2 | c.699A>T (p.Gly233=)
| |
16 | g.67436284del | CA496082872 | HSD11B2 | c.700del (p.Thr234ProfsTer?)
| |
16 | g.67436284A= | CA2229310012 | HSD11B2 | c.700A= (p.Thr234=)
| |
16 | g.67436284A>C | CA396280362 | HSD11B2 | c.700A>C (p.Thr234Pro)
| |
16 | g.67436284A>G | CA396280357 | HSD11B2 | c.700A>G (p.Thr234Ala)
| |
16 | g.67436284A>T | CA396280360 | HSD11B2 | c.700A>T (p.Thr234Ser)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436285C>A | CA396280364 | HSD11B2 | c.701C>A (p.Thr234Asn)
| |
16 | g.67436285C>G | CA396280366 | HSD11B2 | c.701C>G (p.Thr234Ser)
| |
16 | g.67436285C>T | CA396280368 | HSD11B2 | c.701C>T (p.Thr234Ile)
| |
16 | g.67436286C>A | CA496082752 | HSD11B2 | c.702C>A (p.Thr234=)
| |
16 | g.67436286C>G | CA496082753 | HSD11B2 | c.702C>G (p.Thr234=)
| |
16 | g.67436286C>T | CA496082755 | HSD11B2 | c.702C>T (p.Thr234=)
| |
16 | g.67436287T>A | CA396280372 | HSD11B2 | c.703T>A (p.Ser235Thr)
| gnomAD v4 |
16 | g.67436287T>C | CA396280376 | HSD11B2 | c.703T>C (p.Ser235Pro)
| |
16 | g.67436287T>G | CA396280379 | HSD11B2 | c.703T>G (p.Ser235Ala)
| |
16 | g.67436288C>A | CA396280386 | HSD11B2 | c.704C>A (p.Ser235Tyr)
| |
16 | g.67436288C= | CA2229310015 | HSD11B2 | c.704C= (p.Ser235=)
| |
16 | g.67436288C>G | CA396280389 | HSD11B2 | c.704C>G (p.Ser235Cys)
| dbSNP gnomAD v4 |
16 | g.67436288C>T | CA396280390 | HSD11B2 | c.704C>T (p.Ser235Phe)
| COSMIC |
16 | g.67436289C>A | CA496082766 | HSD11B2 | c.705C>A (p.Ser235=)
| |
16 | g.67436289C>G | CA496082764 | HSD11B2 | c.705C>G (p.Ser235=)
| |
16 | g.67436289C>T | CA496082765 | HSD11B2 | c.705C>T (p.Ser235=)
| |
16 | g.67436290A>C | CA396280395 | HSD11B2 | c.706A>C (p.Lys236Gln)
| ClinVar |
16 | g.67436290A>G | CA396280412 | HSD11B2 | c.706A>G (p.Lys236Glu)
| |
16 | g.67436290A>T | CA396280416 | HSD11B2 | c.706A>T (p.Lys236Ter)
| |
16 | g.67436291A>C | CA396280432 | HSD11B2 | c.707A>C (p.Lys236Thr)
| |
16 | g.67436291A>G | CA396280435 | HSD11B2 | c.707A>G (p.Lys236Arg)
| |
16 | g.67436291A>T | CA396280421 | HSD11B2 | c.707A>T (p.Lys236Ile)
| ClinVar |
16 | g.67436292A>C | CA396280440 | HSD11B2 | c.708A>C (p.Lys236Asn)
| COSMIC |
16 | g.67436292A>G | CA496082772 | HSD11B2 | c.708A>G (p.Lys236=)
| |
16 | g.67436292A>T | CA396280437 | HSD11B2 | c.708A>T (p.Lys236Asn)
| |
16 | g.67436293G>A | CA396280447 | HSD11B2 | c.709G>A (p.Ala237Thr)
| |
16 | g.67436293G>C | CA396280444 | HSD11B2 | c.709G>C (p.Ala237Pro)
| |
16 | g.67436293G>T | CA396280446 | HSD11B2 | c.709G>T (p.Ala237Ser)
| |
16 | g.67436294C>A | CA396280448 | HSD11B2 | c.710C>A (p.Ala237Glu)
| |
16 | g.67436294C= | CA2229310017 | HSD11B2 | c.710C= (p.Ala237=)
| |
16 | g.67436294C>G | CA396280449 | HSD11B2 | c.710C>G (p.Ala237Gly)
| |
16 | g.67436294C>T | CA396280452 | HSD11B2 | c.710C>T (p.Ala237Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436295G>A | CA8110723 | HSD11B2 | c.711G>A (p.Ala237=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436295G>C | CA496082780 | HSD11B2 | c.711G>C (p.Ala237=)
| |
16 | g.67436295G= | CA2229310025 | HSD11B2 | c.711G= (p.Ala237=)
| |
16 | g.67436295G>T | CA496082782 | HSD11B2 | c.711G>T (p.Ala237=)
| |
16 | g.67436296G>A | CA396280459 | HSD11B2 | c.712G>A (p.Ala238Thr)
| |
16 | g.67436296G>C | CA396280458 | HSD11B2 | c.712G>C (p.Ala238Pro)
| |
16 | g.67436296G>T | CA396280457 | HSD11B2 | c.712G>T (p.Ala238Ser)
| |
16 | g.67436297C>A | CA396280463 | HSD11B2 | c.713C>A (p.Ala238Asp)
| |
16 | g.67436297C>G | CA396280466 | HSD11B2 | c.713C>G (p.Ala238Gly)
| |
16 | g.67436297C>T | CA396280468 | HSD11B2 | c.713C>T (p.Ala238Val)
| COSMIC |
16 | g.67436298C>A | CA496082788 | HSD11B2 | c.714C>A (p.Ala238=)
| |
16 | g.67436298C= | CA2229310027 | HSD11B2 | c.714C= (p.Ala238=)
| |
16 | g.67436298C>G | CA496082790 | HSD11B2 | c.714C>G (p.Ala238=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436298C>T | CA8110724 | HSD11B2 | c.714C>T (p.Ala238=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436299G>A | CA8110725 | HSD11B2 | c.715G>A (p.Val239Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436299G>C | CA396280477 | HSD11B2 | c.715G>C (p.Val239Leu)
| |
16 | g.67436299G= | CA2229310029 | HSD11B2 | c.715G= (p.Val239=)
| |
16 | g.67436299G>T | CA396280484 | HSD11B2 | c.715G>T (p.Val239Leu)
| |
16 | g.67436300T>A | CA396280487 | HSD11B2 | c.716T>A (p.Val239Glu)
| |
16 | g.67436300T>C | CA282322891 | HSD11B2 | c.716T>C (p.Val239Ala)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436300T>G | CA396280491 | HSD11B2 | c.716T>G (p.Val239Gly)
| |
16 | g.67436300T= | CA2229310031 | HSD11B2 | c.716T= (p.Val239=)
| |
16 | g.67436301G>A | CA496082794 | HSD11B2 | c.717G>A (p.Val239=)
| gnomAD v4 |
16 | g.67436301G>C | CA496082795 | HSD11B2 | c.717G>C (p.Val239=)
| |
16 | g.67436301G>T | CA496082796 | HSD11B2 | c.717G>T (p.Val239=)
| |
16 | g.67436302G>A | CA396280508 | HSD11B2 | c.718G>A (p.Ala240Thr)
| gnomAD v4 |
16 | g.67436302G>C | CA396280519 | HSD11B2 | c.718G>C (p.Ala240Pro)
| |
16 | g.67436302G>T | CA396280522 | HSD11B2 | c.718G>T (p.Ala240Ser)
| |
16 | g.67436303C>A | CA396280528 | HSD11B2 | c.719C>A (p.Ala240Glu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436303C= | CA2229310033 | HSD11B2 | c.719C= (p.Ala240=)
| |
16 | g.67436303C>G | CA396280529 | HSD11B2 | c.719C>G (p.Ala240Gly)
| gnomAD v4 |
16 | g.67436303C>T | CA8110726 | HSD11B2 | c.719C>T (p.Ala240Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436304G>A | CA8110727 | HSD11B2 | c.720G>A (p.Ala240=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436304G>C | CA496082799 | HSD11B2 | c.720G>C (p.Ala240=)
| |
16 | g.67436304G= | CA2229310037 | HSD11B2 | c.720G= (p.Ala240=)
| |
16 | g.67436304G>T | CA496082800 | HSD11B2 | c.720G>T (p.Ala240=)
| gnomAD v4 |
16 | g.67436305C>A | CA396280542 | HSD11B2 | c.721C>A (p.Leu241Ile)
| |
16 | g.67436305C>G | CA396280546 | HSD11B2 | c.721C>G (p.Leu241Val)
| |
16 | g.67436305C>T | CA496082801 | HSD11B2 | c.721C>T (p.Leu241=)
| gnomAD v4 |
16 | g.67436306T>A | CA396280553 | HSD11B2 | c.722T>A (p.Leu241Gln)
| |
16 | g.67436306T>C | CA396280556 | HSD11B2 | c.722T>C (p.Leu241Pro)
| |
16 | g.67436306T>G | CA396280558 | HSD11B2 | c.722T>G (p.Leu241Arg)
| |
16 | g.67436307A>C | CA496082802 | HSD11B2 | c.723A>C (p.Leu241=)
| |
16 | g.67436307A>G | CA496082803 | HSD11B2 | c.723A>G (p.Leu241=)
| |
16 | g.67436307A>T | CA496082804 | HSD11B2 | c.723A>T (p.Leu241=)
| |
16 | g.67436308C>A | CA396280563 | HSD11B2 | c.724C>A (p.Leu242Ile)
| |
16 | g.67436308C>G | CA396280569 | HSD11B2 | c.724C>G (p.Leu242Val)
| |
16 | g.67436308C>T | CA396280567 | HSD11B2 | c.724C>T (p.Leu242Phe)
| |
16 | g.67436309T>A | CA396280578 | HSD11B2 | c.725T>A (p.Leu242His)
| |
16 | g.67436309T>C | CA396280582 | HSD11B2 | c.725T>C (p.Leu242Pro)
| |
16 | g.67436309T>G | CA396280589 | HSD11B2 | c.725T>G (p.Leu242Arg)
| |
16 | g.67436310C>A | CA496082807 | HSD11B2 | c.726C>A (p.Leu242=)
| |
16 | g.67436310C= | CA2229310041 | HSD11B2 | c.726C= (p.Leu242=)
| |
16 | g.67436310C>G | CA496082806 | HSD11B2 | c.726C>G (p.Leu242=)
| |
16 | g.67436310C>T | CA8110728 | HSD11B2 | c.726C>T (p.Leu242=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436311A>C | CA396280609 | HSD11B2 | c.727A>C (p.Met243Leu)
| |
16 | g.67436311A>G | CA396280614 | HSD11B2 | c.727A>G (p.Met243Val)
| gnomAD v4 |
16 | g.67436311A>T | CA396280615 | HSD11B2 | c.727A>T (p.Met243Leu)
| |
16 | g.67436312T>A | CA396280618 | HSD11B2 | c.728T>A (p.Met243Lys)
| |
16 | g.67436312T>C | CA396280620 | HSD11B2 | c.728T>C (p.Met243Thr)
| ClinVar dbSNP |
16 | g.67436312T>G | CA396280624 | HSD11B2 | c.728T>G (p.Met243Arg)
| |
16 | g.67436312T= | CA2229310045 | HSD11B2 | c.728T= (p.Met243=)
| |
16 | g.67436313G>A | CA396280627 | HSD11B2 | c.729G>A (p.Met243Ile)
| |
16 | g.67436313G>C | CA396280629 | HSD11B2 | c.729G>C (p.Met243Ile)
| dbSNP |
16 | g.67436313G= | CA2229310049 | HSD11B2 | c.729G= (p.Met243=)
| |
16 | g.67436313G>T | CA396280634 | HSD11B2 | c.729G>T (p.Met243Ile)
| |
16 | g.67436314G>A | CA396280655 | HSD11B2 | c.730G>A (p.Asp244Asn)
| gnomAD v4 COSMIC |
16 | g.67436314G>C | CA396280641 | HSD11B2 | c.730G>C (p.Asp244His)
| |
16 | g.67436314G>T | CA396280653 | HSD11B2 | c.730G>T (p.Asp244Tyr)
| |
16 | g.67436315A>C | CA396280659 | HSD11B2 | c.731A>C (p.Asp244Ala)
| |
16 | g.67436315A>G | CA396280662 | HSD11B2 | c.731A>G (p.Asp244Gly)
| |
16 | g.67436315A>T | CA396280667 | HSD11B2 | c.731A>T (p.Asp244Val)
| |
16 | g.67436316C>A | CA396280669 | HSD11B2 | c.732C>A (p.Asp244Glu)
| |
16 | g.67436316C>G | CA396280671 | HSD11B2 | c.732C>G (p.Asp244Glu)
| |
16 | g.67436316C>T | CA496082817 | HSD11B2 | c.732C>T (p.Asp244=)
| |
16 | g.67436317A>C | CA396280675 | HSD11B2 | c.733A>C (p.Thr245Pro)
| |
16 | g.67436317A>G | CA396280676 | HSD11B2 | c.733A>G (p.Thr245Ala)
| |
16 | g.67436317A>T | CA396280678 | HSD11B2 | c.733A>T (p.Thr245Ser)
| |
16 | g.67436318C>A | CA396280682 | HSD11B2 | c.734C>A (p.Thr245Lys)
| |
16 | g.67436318C= | CA2229310051 | HSD11B2 | c.734C= (p.Thr245=)
| |
16 | g.67436318C>G | CA396280684 | HSD11B2 | c.734C>G (p.Thr245Arg)
| |
16 | g.67436318C>T | CA396280687 | HSD11B2 | c.734C>T (p.Thr245Ile)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436319A= | CA2229310056 | HSD11B2 | c.735A= (p.Thr245=)
| |
16 | g.67436319A>C | CA496082823 | HSD11B2 | c.735A>C (p.Thr245=)
| |
16 | g.67436319A>G | CA496082821 | HSD11B2 | c.735A>G (p.Thr245=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436319A>T | CA496082820 | HSD11B2 | c.735A>T (p.Thr245=)
| |
16 | g.67436319dup | CA623119599 | HSD11B2 | c.735dup (p.Phe246IlefsTer4)
| ClinVar dbSNP gnomAD v2 |
16 | g.67436320T>A | CA8110729 | HSD11B2 | c.736T>A (p.Phe246Ile)
| dbSNP ExAC gnomAD v2 |
16 | g.67436320T>C | CA396280724 | HSD11B2 | c.736T>C (p.Phe246Leu)
| |
16 | g.67436320T>G | CA396280721 | HSD11B2 | c.736T>G (p.Phe246Val)
| |
16 | g.67436320T= | CA2229310062 | HSD11B2 | c.736T= (p.Phe246=)
| |
16 | g.67436321dup | CA623119600 | HSD11B2 | c.737dup (p.Ser247GlnfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436321T>A | CA396280731 | HSD11B2 | c.737T>A (p.Phe246Tyr)
| |
16 | g.67436321T>C | CA396280740 | HSD11B2 | c.737T>C (p.Phe246Ser)
| |
16 | g.67436321T>G | CA396280741 | HSD11B2 | c.737T>G (p.Phe246Cys)
| |
16 | g.67436322C>A | CA396280743 | HSD11B2 | c.738C>A (p.Phe246Leu)
| |
16 | g.67436322C>G | CA396280744 | HSD11B2 | c.738C>G (p.Phe246Leu)
| |
16 | g.67436322C>T | CA496082829 | HSD11B2 | c.738C>T (p.Phe246=)
| gnomAD v4 |
16 | g.67436323A>C | CA396280746 | HSD11B2 | c.739A>C (p.Ser247Arg)
| |
16 | g.67436323A>G | CA396280748 | HSD11B2 | c.739A>G (p.Ser247Gly)
| |
16 | g.67436323A>T | CA396280750 | HSD11B2 | c.739A>T (p.Ser247Cys)
| |
16 | g.67436324G>A | CA396280756 | HSD11B2 | c.740G>A (p.Ser247Asn)
| |
16 | g.67436324G>C | CA396280760 | HSD11B2 | c.740G>C (p.Ser247Thr)
| |
16 | g.67436324G>T | CA396280763 | HSD11B2 | c.740G>T (p.Ser247Ile)
| |
16 | g.67436325C>A | CA396280765 | HSD11B2 | c.741C>A (p.Ser247Arg)
| |
16 | g.67436325C>G | CA396280771 | HSD11B2 | c.741C>G (p.Ser247Arg)
| |
16 | g.67436325C>T | CA496082838 | HSD11B2 | c.741C>T (p.Ser247=)
| gnomAD v4 |
16 | g.67436326T>A | CA396280777 | HSD11B2 | c.742T>A (p.Cys248Ser)
| |
16 | g.67436326T>C | CA396280774 | HSD11B2 | c.742T>C (p.Cys248Arg)
| |
16 | g.67436326T>G | CA396280773 | HSD11B2 | c.742T>G (p.Cys248Gly)
| |
16 | g.67436327G>A | CA396280780 | HSD11B2 | c.743G>A (p.Cys248Tyr)
| |
16 | g.67436327G>C | CA396280783 | HSD11B2 | c.743G>C (p.Cys248Ser)
| |
16 | g.67436327G>T | CA396280787 | HSD11B2 | c.743G>T (p.Cys248Phe)
| |
16 | g.67436328T>A | CA396280792 | HSD11B2 | c.744T>A (p.Cys248Ter)
| |
16 | g.67436328T>C | CA496082841 | HSD11B2 | c.744T>C (p.Cys248=)
| |
16 | g.67436328T>G | CA396280796 | HSD11B2 | c.744T>G (p.Cys248Trp)
| |
16 | g.67436329G>A | CA396280801 | HSD11B2 | c.745G>A (p.Glu249Lys)
| ClinVar gnomAD v4 |
16 | g.67436329G>C | CA396280818 | HSD11B2 | c.745G>C (p.Glu249Gln)
| |
16 | g.67436329G>T | CA396280823 | HSD11B2 | c.745G>T (p.Glu249Ter)
| |
16 | g.67436330A>C | CA396280829 | HSD11B2 | c.746A>C (p.Glu249Ala)
| |
16 | g.67436330A>G | CA396280833 | HSD11B2 | c.746A>G (p.Glu249Gly)
| |
16 | g.67436330A>T | CA396280835 | HSD11B2 | c.746A>T (p.Glu249Val)
| |
16 | g.67436331A>C | CA396280836 | HSD11B2 | c.747A>C (p.Glu249Asp)
| |
16 | g.67436331A>G | CA496082849 | HSD11B2 | c.747A>G (p.Glu249=)
| |
16 | g.67436331A>T | CA396280837 | HSD11B2 | c.747A>T (p.Glu249Asp)
| |
16 | g.67436331_67436334delinsACTC | CA2229310065 | HSD11B2 | c.747_750delinsACTC (p.Glu249=)
| |
16 | g.67436332C>A | CA396280842 | HSD11B2 | c.748C>A (p.Leu250Ile)
| |
16 | g.67436332C>G | CA396280845 | HSD11B2 | c.748C>G (p.Leu250Val)
| |
16 | g.67436332C>T | CA396280838 | HSD11B2 | c.748C>T (p.Leu250Phe)
| |
16 | g.67436334_67436336del | CA723037089 | HSD11B2 | c.750_752del (p.Leu251del)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436333T>A | CA396280848 | HSD11B2 | c.749T>A (p.Leu250His)
| |
16 | g.67436333T>C | CA8110730 | HSD11B2 | c.749T>C (p.Leu250Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436333T>G | CA396280852 | HSD11B2 | c.749T>G (p.Leu250Arg)
| |
16 | g.67436333T= | CA2229310069 | HSD11B2 | c.749T= (p.Leu250=)
| |
16 | g.67436333_67436336delinsCCTC | CA2695223625 | HSD11B2 | c.749_752delinsCCTC (p.Leu250_Leu251delinsProSer)
| |
16 | g.67436334C>A | CA496082855 | HSD11B2 | c.750C>A (p.Leu250=)
| |
16 | g.67436334C= | CA2229310072 | HSD11B2 | c.750C= (p.Leu250=)
| |
16 | g.67436334C>G | CA496082856 | HSD11B2 | c.750C>G (p.Leu250=)
| |
16 | g.67436334C>T | CA8110731 | HSD11B2 | c.750C>T (p.Leu250=)
| dbSNP ExAC gnomAD v4 |
16 | g.67436335C>A | CA396280859 | HSD11B2 | c.751C>A (p.Leu251Ile)
| |
16 | g.67436335C>G | CA396280860 | HSD11B2 | c.751C>G (p.Leu251Val)
| |
16 | g.67436335C>T | CA396280865 | HSD11B2 | c.751C>T (p.Leu251Phe)
| |
16 | g.67436336T>A | CA396280870 | HSD11B2 | c.752T>A (p.Leu251His)
| |
16 | g.67436336T>C | CA396280875 | HSD11B2 | c.752T>C (p.Leu251Pro)
| |
16 | g.67436336T>G | CA396280878 | HSD11B2 | c.752T>G (p.Leu251Arg)
| |
16 | g.67436337T>A | CA496082863 | HSD11B2 | c.753T>A (p.Leu251=)
| |
16 | g.67436337T>C | CA496082867 | HSD11B2 | c.753T>C (p.Leu251=)
| |
16 | g.67436337T>G | CA496082865 | HSD11B2 | c.753T>G (p.Leu251=)
| |
16 | g.67436338C>A | CA396280882 | HSD11B2 | c.754C>A (p.Pro252Thr)
| |
16 | g.67436338C>G | CA396280884 | HSD11B2 | c.754C>G (p.Pro252Ala)
| |
16 | g.67436338C>T | CA396280889 | HSD11B2 | c.754C>T (p.Pro252Ser)
| gnomAD v4 |
16 | g.67436339C>A | CA396280908 | HSD11B2 | c.755C>A (p.Pro252His)
| |
16 | g.67436339C>G | CA396280940 | HSD11B2 | c.755C>G (p.Pro252Arg)
| |
16 | g.67436339C>T | CA396280936 | HSD11B2 | c.755C>T (p.Pro252Leu)
| |
16 | g.67436340C>A | CA496082873 | HSD11B2 | c.756C>A (p.Pro252=)
| |
16 | g.67436340C= | CA2229310077 | HSD11B2 | c.756C= (p.Pro252=)
| |
16 | g.67436340C>G | CA8110732 | HSD11B2 | c.756C>G (p.Pro252=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436340C>T | CA496082874 | HSD11B2 | c.756C>T (p.Pro252=)
| gnomAD v4 |
16 | g.67436341T>A | CA396280952 | HSD11B2 | c.757T>A (p.Trp253Arg)
| |
16 | g.67436341T>C | CA396280956 | HSD11B2 | c.757T>C (p.Trp253Arg)
| |
16 | g.67436341T>G | CA396280962 | HSD11B2 | c.757T>G (p.Trp253Gly)
| |
16 | g.67436341T= | CA2229310080 | HSD11B2 | c.757T= (p.Trp253=)
| |
16 | g.67436342G>A | CA396280964 | HSD11B2 | c.758G>A (p.Trp253Ter)
| dbSNP |
16 | g.67436342G>C | CA396280968 | HSD11B2 | c.758G>C (p.Trp253Ser)
| gnomAD v4 |
16 | g.67436342G>T | CA396280974 | HSD11B2 | c.758G>T (p.Trp253Leu)
| |
16 | g.67436347dup | CA623119601 | HSD11B2 | c.763dup (p.Val255GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436347del | CA645586895 | HSD11B2 | c.763del (p.Val255SerfsTer16)
| gnomAD v4 COSMIC |
16 | g.67436343G>A | CA396280977 | HSD11B2 | c.759G>A (p.Trp253Ter)
| COSMIC |
16 | g.67436343G>C | CA396280978 | HSD11B2 | c.759G>C (p.Trp253Cys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436343G= | CA2229310086 | HSD11B2 | c.759G= (p.Trp253=)
| |
16 | g.67436343G>T | CA396280982 | HSD11B2 | c.759G>T (p.Trp253Cys)
| |
16 | g.67436344G>A | CA396280987 | HSD11B2 | c.760G>A (p.Gly254Arg)
| |
16 | g.67436344G>C | CA396280996 | HSD11B2 | c.760G>C (p.Gly254Arg)
| |
16 | g.67436344G= | CA2229310091 | HSD11B2 | c.760G= (p.Gly254=)
| |
16 | g.67436344G>T | CA396280984 | HSD11B2 | c.760G>T (p.Gly254Trp)
| dbSNP |
16 | g.67436345G>A | CA396281000 | HSD11B2 | c.761G>A (p.Gly254Glu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436345G>C | CA396281005 | HSD11B2 | c.761G>C (p.Gly254Ala)
| |
16 | g.67436345G= | CA2229310095 | HSD11B2 | c.761G= (p.Gly254=)
| |
16 | g.67436345G>T | CA396281008 | HSD11B2 | c.761G>T (p.Gly254Val)
| |
16 | g.67436346G>A | CA496082881 | HSD11B2 | c.762G>A (p.Gly254=)
| |
16 | g.67436346G>C | CA496082882 | HSD11B2 | c.762G>C (p.Gly254=)
| gnomAD v4 |
16 | g.67436346G= | CA2229310097 | HSD11B2 | c.762G= (p.Gly254=)
| |
16 | g.67436346G>T | CA496082884 | HSD11B2 | c.762G>T (p.Gly254=)
| dbSNP |
16 | g.67436347G>A | CA396281016 | HSD11B2 | c.763G>A (p.Val255Ile)
| dbSNP gnomAD v4 |
16 | g.67436347G>C | CA396281031 | HSD11B2 | c.763G>C (p.Val255Leu)
| |
16 | g.67436347G= | CA2229310099 | HSD11B2 | c.763G= (p.Val255=)
| |
16 | g.67436347G>T | CA396281035 | HSD11B2 | c.763G>T (p.Val255Phe)
| dbSNP gnomAD v4 |
16 | g.67436348T>A | CA396281039 | HSD11B2 | c.764T>A (p.Val255Asp)
| |
16 | g.67436348T>C | CA396281043 | HSD11B2 | c.764T>C (p.Val255Ala)
| |
16 | g.67436348T>G | CA396281048 | HSD11B2 | c.764T>G (p.Val255Gly)
| |
16 | g.67436349C>A | CA496082886 | HSD11B2 | c.765C>A (p.Val255=)
| |
16 | g.67436349C= | CA2229310103 | HSD11B2 | c.765C= (p.Val255=)
| |
16 | g.67436349C>G | CA496082887 | HSD11B2 | c.765C>G (p.Val255=)
| |
16 | g.67436349C>T | CA282322908 | HSD11B2 | c.765C>T (p.Val255=)
| dbSNP |
16 | g.67436350A>C | CA396281051 | HSD11B2 | c.766A>C (p.Lys256Gln)
| |
16 | g.67436350A>G | CA396281053 | HSD11B2 | c.766A>G (p.Lys256Glu)
| |
16 | g.67436350A>T | CA396281058 | HSD11B2 | c.766A>T (p.Lys256Ter)
| |
16 | g.67436351A>C | CA396281064 | HSD11B2 | c.767A>C (p.Lys256Thr)
| |
16 | g.67436351A>G | CA396281066 | HSD11B2 | c.767A>G (p.Lys256Arg)
| |
16 | g.67436351A>T | CA396281071 | HSD11B2 | c.767A>T (p.Lys256Met)
| |
16 | g.67436352G>A | CA496082890 | HSD11B2 | c.768G>A (p.Lys256=)
| |
16 | g.67436352G>C | CA396281078 | HSD11B2 | c.768G>C (p.Lys256Asn)
| gnomAD v4 |
16 | g.67436352G>T | CA396281091 | HSD11B2 | c.768G>T (p.Lys256Asn)
| |
16 | g.67436353G>A | CA396281095 | HSD11B2 | c.769G>A (p.Val257Ile)
| dbSNP gnomAD v4 |
16 | g.67436353G>C | CA396281098 | HSD11B2 | c.769G>C (p.Val257Leu)
| |
16 | g.67436353G= | CA2229310108 | HSD11B2 | c.769G= (p.Val257=)
| |
16 | g.67436353G>T | CA396281101 | HSD11B2 | c.769G>T (p.Val257Phe)
| |
16 | g.67436354T>A | CA396281115 | HSD11B2 | c.770T>A (p.Val257Asp)
| |
16 | g.67436354T>C | CA396281122 | HSD11B2 | c.770T>C (p.Val257Ala)
| |
16 | g.67436354T>G | CA396281125 | HSD11B2 | c.770T>G (p.Val257Gly)
| |
16 | g.67436355C>A | CA496082892 | HSD11B2 | c.771C>A (p.Val257=)
| |
16 | g.67436355C>G | CA496082893 | HSD11B2 | c.771C>G (p.Val257=)
| |
16 | g.67436355C>T | CA496082894 | HSD11B2 | c.771C>T (p.Val257=)
| |
16 | g.67436356A>C | CA396281143 | HSD11B2 | c.772A>C (p.Ser258Arg)
| |
16 | g.67436356A>G | CA396281132 | HSD11B2 | c.772A>G (p.Ser258Gly)
| |
16 | g.67436356A>T | CA396281135 | HSD11B2 | c.772A>T (p.Ser258Cys)
| gnomAD v4 |
16 | g.67436357G>A | CA396281147 | HSD11B2 | c.773G>A (p.Ser258Asn)
| |
16 | g.67436357G>C | CA396281150 | HSD11B2 | c.773G>C (p.Ser258Thr)
| |
16 | g.67436357G>T | CA396281157 | HSD11B2 | c.773G>T (p.Ser258Ile)
| |
16 | g.67436358C>A | CA396281162 | HSD11B2 | c.774C>A (p.Ser258Arg)
| |
16 | g.67436358C>G | CA396281163 | HSD11B2 | c.774C>G (p.Ser258Arg)
| |
16 | g.67436358C>T | CA496082896 | HSD11B2 | c.774C>T (p.Ser258=)
| gnomAD v4 |
16 | g.67436359A>C | CA396281165 | HSD11B2 | c.775A>C (p.Ile259Leu)
| |
16 | g.67436359A>G | CA396281169 | HSD11B2 | c.775A>G (p.Ile259Val)
| gnomAD v4 |
16 | g.67436359A>T | CA396281166 | HSD11B2 | c.775A>T (p.Ile259Phe)
| |
16 | g.67436360T>A | CA396281174 | HSD11B2 | c.776T>A (p.Ile259Asn)
| |
16 | g.67436360T>C | CA396281177 | HSD11B2 | c.776T>C (p.Ile259Thr)
| gnomAD v4 |
16 | g.67436360T>G | CA396281180 | HSD11B2 | c.776T>G (p.Ile259Ser)
| |
16 | g.67436365_67436366insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCC | CA978416354 | HSD11B2 | c.781_782insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCC (p.Gln261ProfsTer?)
| gnomAD v3 gnomAD v4 |
16 | g.67436361C>A | CA496082899 | HSD11B2 | c.777C>A (p.Ile259=)
| |
16 | g.67436361C>G | CA396281184 | HSD11B2 | c.777C>G (p.Ile259Met)
| |
16 | g.67436361C>T | CA496082901 | HSD11B2 | c.777C>T (p.Ile259=)
| gnomAD v4 |
16 | g.67436362A>C | CA396281187 | HSD11B2 | c.778A>C (p.Ile260Leu)
| |
16 | g.67436362A>G | CA396281189 | HSD11B2 | c.778A>G (p.Ile260Val)
| |
16 | g.67436362A>T | CA396281190 | HSD11B2 | c.778A>T (p.Ile260Phe)
| |
16 | g.67436363T>A | CA396281193 | HSD11B2 | c.779T>A (p.Ile260Asn)
| |
16 | g.67436363T>C | CA396281197 | HSD11B2 | c.779T>C (p.Ile260Thr)
| |
16 | g.67436363T>G | CA396281194 | HSD11B2 | c.779T>G (p.Ile260Ser)
| |
16 | g.67436364C>A | CA496082903 | HSD11B2 | c.780C>A (p.Ile260=)
| |
16 | g.67436364C= | CA2229310109 | HSD11B2 | c.780C= (p.Ile260=)
| |
16 | g.67436364C>G | CA396281201 | HSD11B2 | c.780C>G (p.Ile260Met)
| |
16 | g.67436364C>T | CA282322923 | HSD11B2 | c.780C>T (p.Ile260=)
| dbSNP |
16 | g.67436365C>A | CA396281205 | HSD11B2 | c.781C>A (p.Gln261Lys)
| dbSNP gnomAD v2 COSMIC |
16 | g.67436365C= | CA2229310112 | HSD11B2 | c.781C= (p.Gln261=)
| |
16 | g.67436365C>G | CA396281207 | HSD11B2 | c.781C>G (p.Gln261Glu)
| |
16 | g.67436365C>T | CA396281210 | HSD11B2 | c.781C>T (p.Gln261Ter)
| |
16 | g.67436366A>C | CA396281218 | HSD11B2 | c.782A>C (p.Gln261Pro)
| |
16 | g.67436366A>G | CA396281227 | HSD11B2 | c.782A>G (p.Gln261Arg)
| |
16 | g.67436366A>T | CA396281221 | HSD11B2 | c.782A>T (p.Gln261Leu)
| |
16 | g.67436367G>A | CA496082907 | HSD11B2 | c.783G>A (p.Gln261=)
| dbSNP |
16 | g.67436367G>C | CA396281230 | HSD11B2 | c.783G>C (p.Gln261His)
| |
16 | g.67436367G= | CA2229310114 | HSD11B2 | c.783G= (p.Gln261=)
| |
16 | g.67436367G>T | CA396281231 | HSD11B2 | c.783G>T (p.Gln261His)
| |
16 | g.67436368C>A | CA396281232 | HSD11B2 | c.784C>A (p.Pro262Thr)
| |
16 | g.67436368C= | CA2229310117 | HSD11B2 | c.784C= (p.Pro262=)
| |
16 | g.67436368C>G | CA396281233 | HSD11B2 | c.784C>G (p.Pro262Ala)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436368C>T | CA282322933 | HSD11B2 | c.784C>T (p.Pro262Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436369C>A | CA396281236 | HSD11B2 | c.785C>A (p.Pro262His)
| |
16 | g.67436369C>G | CA396281238 | HSD11B2 | c.785C>G (p.Pro262Arg)
| |
16 | g.67436369C>T | CA396281241 | HSD11B2 | c.785C>T (p.Pro262Leu)
| |
16 | g.67436370T>A | CA496082910 | HSD11B2 | c.786T>A (p.Pro262=)
| |
16 | g.67436370T>C | CA496082911 | HSD11B2 | c.786T>C (p.Pro262=)
| |
16 | g.67436370T>G | CA496082912 | HSD11B2 | c.786T>G (p.Pro262=)
| |
16 | g.67436371G>A | CA396281245 | HSD11B2 | c.787G>A (p.Gly263Ser)
| |
16 | g.67436371G>C | CA396281249 | HSD11B2 | c.787G>C (p.Gly263Arg)
| |
16 | g.67436371G>T | CA396281260 | HSD11B2 | c.787G>T (p.Gly263Cys)
| |