16 | g.67436711_67436721delinsACTCGCTACGC | CA2229310511 | HSD11B2 | c.926_936delinsACTCGCTACGC (p.His309=)
| |
16 | g.67436714_67436723del | CA8110777 | HSD11B2 | c.929_938del (p.Ser310TrpfsTer10)
| dbSNP ExAC gnomAD v2 |
16 | g.67436720G>A | CA8110783 | HSD11B2 | c.935G>A (p.Arg312His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436720G>C | CA396282369 | HSD11B2 | c.935G>C (p.Arg312Pro)
| |
16 | g.67436720G= | CA2229310533 | HSD11B2 | c.935G= (p.Arg312=)
| |
16 | g.67436720G>T | CA396282372 | HSD11B2 | c.935G>T (p.Arg312Leu)
| |
16 | g.67436721C>A | CA496083037 | HSD11B2 | c.936C>A (p.Arg312=)
| gnomAD v4 |
16 | g.67436721C>G | CA496083039 | HSD11B2 | c.936C>G (p.Arg312=)
| |
16 | g.67436721C>T | CA496083038 | HSD11B2 | c.936C>T (p.Arg312=)
| |
16 | g.67436722C>A | CA396282376 | HSD11B2 | c.937C>A (p.Leu313Met)
| |
16 | g.67436722C>G | CA396282380 | HSD11B2 | c.937C>G (p.Leu313Val)
| |
16 | g.67436722C>T | CA496083040 | HSD11B2 | c.937C>T (p.Leu313=)
| |
16 | g.67436723T>A | CA396282384 | HSD11B2 | c.938T>A (p.Leu313Gln)
| |
16 | g.67436723T>C | CA396282388 | HSD11B2 | c.938T>C (p.Leu313Pro)
| |
16 | g.67436723T>G | CA396282391 | HSD11B2 | c.938T>G (p.Leu313Arg)
| |
16 | g.67436724G>A | CA496083041 | HSD11B2 | c.939G>A (p.Leu313=)
| gnomAD v4 |
16 | g.67436724G>C | CA496083042 | HSD11B2 | c.939G>C (p.Leu313=)
| gnomAD v4 |
16 | g.67436724G>T | CA496083043 | HSD11B2 | c.939G>T (p.Leu313=)
| |
16 | g.67436725G>A | CA396282400 | HSD11B2 | c.940G>A (p.Ala314Thr)
| gnomAD v4 |
16 | g.67436725G>C | CA396282401 | HSD11B2 | c.940G>C (p.Ala314Pro)
| |
16 | g.67436725G>T | CA396282404 | HSD11B2 | c.940G>T (p.Ala314Ser)
| |
16 | g.67436726C>A | CA396282417 | HSD11B2 | c.941C>A (p.Ala314Asp)
| |
16 | g.67436726C>G | CA396282420 | HSD11B2 | c.941C>G (p.Ala314Gly)
| |
16 | g.67436726C>T | CA396282424 | HSD11B2 | c.941C>T (p.Ala314Val)
| |
16 | g.67436727C>A | CA496083044 | HSD11B2 | c.942C>A (p.Ala314=)
| |
16 | g.67436727C>G | CA496083045 | HSD11B2 | c.942C>G (p.Ala314=)
| |
16 | g.67436727C>T | CA496083046 | HSD11B2 | c.942C>T (p.Ala314=)
| |
16 | g.67436728A= | CA2229310536 | HSD11B2 | c.943A= (p.Met315=)
| |
16 | g.67436728A>C | CA396282429 | HSD11B2 | c.943A>C (p.Met315Leu)
| |
16 | g.67436728A>G | CA282323394 | HSD11B2 | c.943A>G (p.Met315Val)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436728A>T | CA396282427 | HSD11B2 | c.943A>T (p.Met315Leu)
| |
16 | g.67436729T>A | CA396282437 | HSD11B2 | c.944T>A (p.Met315Lys)
| |
16 | g.67436729T>C | CA396282439 | HSD11B2 | c.944T>C (p.Met315Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436729T>G | CA396282458 | HSD11B2 | c.944T>G (p.Met315Arg)
| |
16 | g.67436729T= | CA2229310538 | HSD11B2 | c.944T= (p.Met315=)
| |
16 | g.67436730G>A | CA396282462 | HSD11B2 | c.945G>A (p.Met315Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436730G>C | CA396282465 | HSD11B2 | c.945G>C (p.Met315Ile)
| |
16 | g.67436730G= | CA2229310540 | HSD11B2 | c.945G= (p.Met315=)
| |
16 | g.67436730G>T | CA396282469 | HSD11B2 | c.945G>T (p.Met315Ile)
| |
16 | g.67436731T>A | CA396282473 | HSD11B2 | c.946T>A (p.Ser316Thr)
| |
16 | g.67436731T>C | CA8110784 | HSD11B2 | c.946T>C (p.Ser316Pro)
| dbSNP ExAC |
16 | g.67436731T>G | CA396282479 | HSD11B2 | c.946T>G (p.Ser316Ala)
| |
16 | g.67436731T= | CA2229310542 | HSD11B2 | c.946T= (p.Ser316=)
| |
16 | g.67436732C>A | CA396282482 | HSD11B2 | c.947C>A (p.Ser316Tyr)
| |
16 | g.67436732C= | CA2229310543 | HSD11B2 | c.947C= (p.Ser316=)
| |
16 | g.67436732C>G | CA396282486 | HSD11B2 | c.947C>G (p.Ser316Cys)
| |
16 | g.67436732C>T | CA8110785 | HSD11B2 | c.947C>T (p.Ser316Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436733C>A | CA496083047 | HSD11B2 | c.948C>A (p.Ser316=)
| |
16 | g.67436733C= | CA2229310546 | HSD11B2 | c.948C= (p.Ser316=)
| |
16 | g.67436733C>G | CA496083048 | HSD11B2 | c.948C>G (p.Ser316=)
| |
16 | g.67436733C>T | CA282323403 | HSD11B2 | c.948C>T (p.Ser316=)
| ClinVar dbSNP gnomAD v4 |
16 | g.67436734G>A | CA8110786 | HSD11B2 | c.949G>A (p.Asp317Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436734G>C | CA396282495 | HSD11B2 | c.949G>C (p.Asp317His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436734G= | CA2229310551 | HSD11B2 | c.949G= (p.Asp317=)
| |
16 | g.67436734G>T | CA396282491 | HSD11B2 | c.949G>T (p.Asp317Tyr)
| |
16 | g.67436735A>C | CA396282501 | HSD11B2 | c.950A>C (p.Asp317Ala)
| |
16 | g.67436735A>G | CA396282504 | HSD11B2 | c.950A>G (p.Asp317Gly)
| |
16 | g.67436735A>T | CA396282506 | HSD11B2 | c.950A>T (p.Asp317Val)
| |
16 | g.67436736C>A | CA396282509 | HSD11B2 | c.951C>A (p.Asp317Glu)
| dbSNP |
16 | g.67436736C= | CA2229310553 | HSD11B2 | c.951C= (p.Asp317=)
| |
16 | g.67436736C>G | CA396282512 | HSD11B2 | c.951C>G (p.Asp317Glu)
| |
16 | g.67436736C>T | CA8110787 | HSD11B2 | c.951C>T (p.Asp317=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436737C>A | CA396282516 | HSD11B2 | c.952C>A (p.Leu318Ile)
| |
16 | g.67436737C>G | CA396282518 | HSD11B2 | c.952C>G (p.Leu318Val)
| |
16 | g.67436737C>T | CA396282520 | HSD11B2 | c.952C>T (p.Leu318Phe)
| gnomAD v4 |
16 | g.67436738_67436739del | CA2633777001 | HSD11B2 | c.953_954del (p.Leu318HisfsTer?)
| gnomAD v4 |
16 | g.67436738T>A | CA396282523 | HSD11B2 | c.953T>A (p.Leu318His)
| |
16 | g.67436738T>C | CA8110788 | HSD11B2 | c.953T>C (p.Leu318Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436738T>G | CA396282530 | HSD11B2 | c.953T>G (p.Leu318Arg)
| |
16 | g.67436738T= | CA2229310556 | HSD11B2 | c.953T= (p.Leu318=)
| |
16 | g.67436739C>A | CA496083049 | HSD11B2 | c.954C>A (p.Leu318=)
| |
16 | g.67436739C>G | CA496083050 | HSD11B2 | c.954C>G (p.Leu318=)
| |
16 | g.67436739C>T | CA496083051 | HSD11B2 | c.954C>T (p.Leu318=)
| |
16 | g.67436740A= | CA2229310559 | HSD11B2 | c.955A= (p.Thr319=)
| |
16 | g.67436740A>C | CA396282540 | HSD11B2 | c.955A>C (p.Thr319Pro)
| |
16 | g.67436740A>G | CA396282534 | HSD11B2 | c.955A>G (p.Thr319Ala)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436740A>T | CA396282538 | HSD11B2 | c.955A>T (p.Thr319Ser)
| |
16 | g.67436741C>A | CA396282544 | HSD11B2 | c.956C>A (p.Thr319Asn)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436741C= | CA2229310566 | HSD11B2 | c.956C= (p.Thr319=)
| |
16 | g.67436741C>G | CA396282546 | HSD11B2 | c.956C>G (p.Thr319Ser)
| |
16 | g.67436741C>T | CA396282545 | HSD11B2 | c.956C>T (p.Thr319Ile)
| |
16 | g.67436743_67436744del | CA2842144247 | HSD11B2 | c.958_959del (p.Pro320SerfsTer?)
| |
16 | g.67436741_67436749dup | CA913191234 | HSD11B2 | c.956_964dup (p.Val321_Val322insAlaProVal)
| ClinVar dbSNP |
16 | g.67436742C>A | CA496083052 | HSD11B2 | c.957C>A (p.Thr319=)
| |
16 | g.67436742C>G | CA496083054 | HSD11B2 | c.957C>G (p.Thr319=)
| |
16 | g.67436742C>T | CA496083053 | HSD11B2 | c.957C>T (p.Thr319=)
| gnomAD v4 |
16 | g.67436743C>A | CA396282547 | HSD11B2 | c.958C>A (p.Pro320Thr)
| |
16 | g.67436743C>G | CA396282548 | HSD11B2 | c.958C>G (p.Pro320Ala)
| |
16 | g.67436743C>T | CA396282549 | HSD11B2 | c.958C>T (p.Pro320Ser)
| gnomAD v4 |
16 | g.67436744C>A | CA396282552 | HSD11B2 | c.959C>A (p.Pro320Gln)
| |
16 | g.67436744C>G | CA396282556 | HSD11B2 | c.959C>G (p.Pro320Arg)
| |
16 | g.67436744C>T | CA396282562 | HSD11B2 | c.959C>T (p.Pro320Leu)
| |
16 | g.67436745A= | CA2229310570 | HSD11B2 | c.960A= (p.Pro320=)
| |
16 | g.67436745A>C | CA496083055 | HSD11B2 | c.960A>C (p.Pro320=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436745A>G | CA496083056 | HSD11B2 | c.960A>G (p.Pro320=)
| |
16 | g.67436745A>T | CA496083057 | HSD11B2 | c.960A>T (p.Pro320=)
| |
16 | g.67436746G>A | CA396282582 | HSD11B2 | c.961G>A (p.Val321Ile)
| |
16 | g.67436746G>C | CA396282580 | HSD11B2 | c.961G>C (p.Val321Leu)
| |
16 | g.67436746G>T | CA396282578 | HSD11B2 | c.961G>T (p.Val321Phe)
| |
16 | g.67436747T>A | CA396282586 | HSD11B2 | c.962T>A (p.Val321Asp)
| |
16 | g.67436747T>C | CA396282588 | HSD11B2 | c.962T>C (p.Val321Ala)
| |
16 | g.67436747T>G | CA396282599 | HSD11B2 | c.962T>G (p.Val321Gly)
| |
16 | g.67436748T>A | CA496083058 | HSD11B2 | c.963T>A (p.Val321=)
| |
16 | g.67436748T>C | CA496083059 | HSD11B2 | c.963T>C (p.Val321=)
| gnomAD v4 |
16 | g.67436748T>G | CA496083060 | HSD11B2 | c.963T>G (p.Val321=)
| |
16 | g.67436749G>A | CA396282601 | HSD11B2 | c.964G>A (p.Val322Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436749G>C | CA396282604 | HSD11B2 | c.964G>C (p.Val322Leu)
| |
16 | g.67436749G= | CA2229310573 | HSD11B2 | c.964G= (p.Val322=)
| |
16 | g.67436749G>T | CA396282608 | HSD11B2 | c.964G>T (p.Val322Leu)
| |
16 | g.67436750T>A | CA396282611 | HSD11B2 | c.965T>A (p.Val322Glu)
| |
16 | g.67436750T>C | CA8110789 | HSD11B2 | c.965T>C (p.Val322Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436750T>G | CA396282613 | HSD11B2 | c.965T>G (p.Val322Gly)
| |
16 | g.67436750T= | CA2229310575 | HSD11B2 | c.965T= (p.Val322=)
| |
16 | g.67436751A>C | CA496083061 | HSD11B2 | c.966A>C (p.Val322=)
| |
16 | g.67436751A>G | CA496083062 | HSD11B2 | c.966A>G (p.Val322=)
| |
16 | g.67436751A>T | CA496083063 | HSD11B2 | c.966A>T (p.Val322=)
| |
16 | g.67436752G>A | CA396282616 | HSD11B2 | c.967G>A (p.Asp323Asn)
| dbSNP |
16 | g.67436752G>C | CA396282625 | HSD11B2 | c.967G>C (p.Asp323His)
| |
16 | g.67436752G= | CA2229310578 | HSD11B2 | c.967G= (p.Asp323=)
| |
16 | g.67436752G>T | CA396282628 | HSD11B2 | c.967G>T (p.Asp323Tyr)
| gnomAD v4 |
16 | g.67436753A= | CA2229310580 | HSD11B2 | c.968A= (p.Asp323=)
| |
16 | g.67436753A>C | CA396282631 | HSD11B2 | c.968A>C (p.Asp323Ala)
| |
16 | g.67436753A>G | CA396282633 | HSD11B2 | c.968A>G (p.Asp323Gly)
| dbSNP gnomAD v4 |
16 | g.67436753A>T | CA8110790 | HSD11B2 | c.968A>T (p.Asp323Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436754T>A | CA396282644 | HSD11B2 | c.969T>A (p.Asp323Glu)
| |
16 | g.67436754T>C | CA496083064 | HSD11B2 | c.969T>C (p.Asp323=)
| |
16 | g.67436754T>G | CA396282647 | HSD11B2 | c.969T>G (p.Asp323Glu)
| |
16 | g.67436755G>A | CA396282650 | HSD11B2 | c.970G>A (p.Ala324Thr)
| gnomAD v4 |
16 | g.67436755G>C | CA396282652 | HSD11B2 | c.970G>C (p.Ala324Pro)
| |
16 | g.67436755G>T | CA396282656 | HSD11B2 | c.970G>T (p.Ala324Ser)
| |
16 | g.67436756C>A | CA396282661 | HSD11B2 | c.971C>A (p.Ala324Asp)
| COSMIC |
16 | g.67436756C= | CA2229310585 | HSD11B2 | c.971C= (p.Ala324=)
| |
16 | g.67436756C>G | CA396282671 | HSD11B2 | c.971C>G (p.Ala324Gly)
| |
16 | g.67436756C>T | CA8110791 | HSD11B2 | c.971C>T (p.Ala324Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436757C>A | CA496083065 | HSD11B2 | c.972C>A (p.Ala324=)
| |
16 | g.67436757C>G | CA496083066 | HSD11B2 | c.972C>G (p.Ala324=)
| |
16 | g.67436757C>T | CA496083067 | HSD11B2 | c.972C>T (p.Ala324=)
| |
16 | g.67436758A= | CA2229310587 | HSD11B2 | c.973A= (p.Ile325=)
| |
16 | g.67436758A>C | CA396282676 | HSD11B2 | c.973A>C (p.Ile325Leu)
| |
16 | g.67436758A>G | CA396282680 | HSD11B2 | c.973A>G (p.Ile325Val)
| dbSNP |
16 | g.67436758A>T | CA396282682 | HSD11B2 | c.973A>T (p.Ile325Phe)
| |
16 | g.67436759T>A | CA396282692 | HSD11B2 | c.974T>A (p.Ile325Asn)
| |
16 | g.67436759T>C | CA396282696 | HSD11B2 | c.974T>C (p.Ile325Thr)
| |
16 | g.67436759T>G | CA396282700 | HSD11B2 | c.974T>G (p.Ile325Ser)
| |
16 | g.67436760C>A | CA496083068 | HSD11B2 | c.975C>A (p.Ile325=)
| |
16 | g.67436760C= | CA2229310591 | HSD11B2 | c.975C= (p.Ile325=)
| |
16 | g.67436760C>G | CA396282701 | HSD11B2 | c.975C>G (p.Ile325Met)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436760C>T | CA496083069 | HSD11B2 | c.975C>T (p.Ile325=)
| |
16 | g.67436761A>C | CA396282703 | HSD11B2 | c.976A>C (p.Thr326Pro)
| |
16 | g.67436761A>G | CA396282705 | HSD11B2 | c.976A>G (p.Thr326Ala)
| |
16 | g.67436761A>T | CA396282708 | HSD11B2 | c.976A>T (p.Thr326Ser)
| |
16 | g.67436762C>A | CA396282712 | HSD11B2 | c.977C>A (p.Thr326Lys)
| |
16 | g.67436762C= | CA2229310593 | HSD11B2 | c.977C= (p.Thr326=)
| |
16 | g.67436762C>G | CA396282715 | HSD11B2 | c.977C>G (p.Thr326Arg)
| |
16 | g.67436762C>T | CA282323436 | HSD11B2 | c.977C>T (p.Thr326Ile)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436763A>C | CA496083072 | HSD11B2 | c.978A>C (p.Thr326=)
| |
16 | g.67436763A>G | CA496083071 | HSD11B2 | c.978A>G (p.Thr326=)
| |
16 | g.67436763A>T | CA496083070 | HSD11B2 | c.978A>T (p.Thr326=)
| |
16 | g.67436764G>A | CA396282720 | HSD11B2 | c.979G>A (p.Asp327Asn)
| |
16 | g.67436764G>C | CA396282726 | HSD11B2 | c.979G>C (p.Asp327His)
| |
16 | g.67436764G= | CA2229310594 | HSD11B2 | c.979G= (p.Asp327=)
| |
16 | g.67436764G>T | CA396282723 | HSD11B2 | c.979G>T (p.Asp327Tyr)
| dbSNP gnomAD v2 |
16 | g.67436765A>C | CA396282731 | HSD11B2 | c.980A>C (p.Asp327Ala)
| |
16 | g.67436765A>G | CA396282734 | HSD11B2 | c.980A>G (p.Asp327Gly)
| gnomAD v4 |
16 | g.67436765A>T | CA396282737 | HSD11B2 | c.980A>T (p.Asp327Val)
| |
16 | g.67436766T>A | CA396282740 | HSD11B2 | c.981T>A (p.Asp327Glu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436766T>C | CA496083073 | HSD11B2 | c.981T>C (p.Asp327=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436766T>G | CA396282743 | HSD11B2 | c.981T>G (p.Asp327Glu)
| |
16 | g.67436766T= | CA2229310596 | HSD11B2 | c.981T= (p.Asp327=)
| |
16 | g.67436767G>A | CA396282746 | HSD11B2 | c.982G>A (p.Ala328Thr)
| |
16 | g.67436767G>C | CA396282747 | HSD11B2 | c.982G>C (p.Ala328Pro)
| |
16 | g.67436767G>T | CA396282752 | HSD11B2 | c.982G>T (p.Ala328Ser)
| |
16 | g.67436768C>A | CA396282756 | HSD11B2 | c.983C>A (p.Ala328Glu)
| |
16 | g.67436768C= | CA2229310603 | HSD11B2 | c.983C= (p.Ala328=)
| |
16 | g.67436768C>G | CA396282758 | HSD11B2 | c.983C>G (p.Ala328Gly)
| dbSNP |
16 | g.67436768C>T | CA396282760 | HSD11B2 | c.983C>T (p.Ala328Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436769G>A | CA496083074 | HSD11B2 | c.984G>A (p.Ala328=)
| dbSNP gnomAD v4 |
16 | g.67436769G>C | CA8110792 | HSD11B2 | c.984G>C (p.Ala328=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436769G= | CA2229310605 | HSD11B2 | c.984G= (p.Ala328=)
| |
16 | g.67436769G>T | CA496083075 | HSD11B2 | c.984G>T (p.Ala328=)
| |
16 | g.67436770C>A | CA396282770 | HSD11B2 | c.985C>A (p.Leu329Met)
| |
16 | g.67436770C= | CA2229310607 | HSD11B2 | c.985C= (p.Leu329=)
| |
16 | g.67436770C>G | CA396282767 | HSD11B2 | c.985C>G (p.Leu329Val)
| dbSNP |
16 | g.67436770C>T | CA496083076 | HSD11B2 | c.985C>T (p.Leu329=)
| gnomAD v4 |
16 | g.67436771T>A | CA396282773 | HSD11B2 | c.986T>A (p.Leu329Gln)
| |
16 | g.67436771T>C | CA396282776 | HSD11B2 | c.986T>C (p.Leu329Pro)
| |
16 | g.67436771T>G | CA396282801 | HSD11B2 | c.986T>G (p.Leu329Arg)
| |
16 | g.67436772G>A | CA496083077 | HSD11B2 | c.987G>A (p.Leu329=)
| |
16 | g.67436772G>C | CA8110793 | HSD11B2 | c.987G>C (p.Leu329=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436772G= | CA2229310609 | HSD11B2 | c.987G= (p.Leu329=)
| |
16 | g.67436772G>T | CA496083078 | HSD11B2 | c.987G>T (p.Leu329=)
| |
16 | g.67436773C>A | CA396282805 | HSD11B2 | c.988C>A (p.Leu330Met)
| |
16 | g.67436773C= | CA2229310612 | HSD11B2 | c.988C= (p.Leu330=)
| |
16 | g.67436773C>G | CA396282808 | HSD11B2 | c.988C>G (p.Leu330Val)
| |
16 | g.67436773C>T | CA496083079 | HSD11B2 | c.988C>T (p.Leu330=)
| dbSNP |
16 | g.67436774T>A | CA396282810 | HSD11B2 | c.989T>A (p.Leu330Gln)
| |
16 | g.67436774T>C | CA396282812 | HSD11B2 | c.989T>C (p.Leu330Pro)
| |
16 | g.67436774T>G | CA396282813 | HSD11B2 | c.989T>G (p.Leu330Arg)
| ClinVar |
16 | g.67436775G>A | CA496083080 | HSD11B2 | c.990G>A (p.Leu330=)
| |
16 | g.67436775G>C | CA496083081 | HSD11B2 | c.990G>C (p.Leu330=)
| |
16 | g.67436775G>T | CA496083082 | HSD11B2 | c.990G>T (p.Leu330=)
| |
16 | g.67436776G>A | CA396282814 | HSD11B2 | c.991G>A (p.Ala331Thr)
| |
16 | g.67436776G>C | CA396282815 | HSD11B2 | c.991G>C (p.Ala331Pro)
| |
16 | g.67436776G>T | CA396282816 | HSD11B2 | c.991G>T (p.Ala331Ser)
| gnomAD v4 |
16 | g.67436777C>A | CA396282824 | HSD11B2 | c.992C>A (p.Ala331Glu)
| |
16 | g.67436777C>G | CA396282821 | HSD11B2 | c.992C>G (p.Ala331Gly)
| |
16 | g.67436777C>T | CA396282819 | HSD11B2 | c.992C>T (p.Ala331Val)
| |
16 | g.67436778A>C | CA496083083 | HSD11B2 | c.993A>C (p.Ala331=)
| |
16 | g.67436778A>G | CA496083084 | HSD11B2 | c.993A>G (p.Ala331=)
| |
16 | g.67436778A>T | CA496083085 | HSD11B2 | c.993A>T (p.Ala331=)
| |
16 | g.67436779G>A | CA396282828 | HSD11B2 | c.994G>A (p.Ala332Thr)
| |
16 | g.67436779G>C | CA396282837 | HSD11B2 | c.994G>C (p.Ala332Pro)
| |
16 | g.67436779G>T | CA396282847 | HSD11B2 | c.994G>T (p.Ala332Ser)
| |
16 | g.67436780C>A | CA396282851 | HSD11B2 | c.995C>A (p.Ala332Asp)
| |
16 | g.67436780C>G | CA396282856 | HSD11B2 | c.995C>G (p.Ala332Gly)
| |
16 | g.67436780C>T | CA396282868 | HSD11B2 | c.995C>T (p.Ala332Val)
| gnomAD v4 |
16 | g.67436781T>A | CA496083086 | HSD11B2 | c.996T>A (p.Ala332=)
| |
16 | g.67436781T>C | CA496083087 | HSD11B2 | c.996T>C (p.Ala332=)
| gnomAD v4 |
16 | g.67436781T>G | CA496083088 | HSD11B2 | c.996T>G (p.Ala332=)
| |
16 | g.67436782C>A | CA496083089 | HSD11B2 | c.997C>A (p.Arg333=)
| |
16 | g.67436782C= | CA2229310616 | HSD11B2 | c.997C= (p.Arg333=)
| |
16 | g.67436782C>G | CA396282871 | HSD11B2 | c.997C>G (p.Arg333Gly)
| |
16 | g.67436782C>T | CA282323450 | HSD11B2 | c.997C>T (p.Arg333Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436783G>A | CA8110794 | HSD11B2 | c.998G>A (p.Arg333Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436783G>C | CA396282880 | HSD11B2 | c.998G>C (p.Arg333Pro)
| |
16 | g.67436783G= | CA2229310618 | HSD11B2 | c.998G= (p.Arg333=)
| |
16 | g.67436783G>T | CA396282884 | HSD11B2 | c.998G>T (p.Arg333Leu)
| |
16 | g.67436784G>A | CA496083090 | HSD11B2 | c.999G>A (p.Arg333=)
| |
16 | g.67436784G>C | CA496083091 | HSD11B2 | c.999G>C (p.Arg333=)
| |
16 | g.67436784G>T | CA496083092 | HSD11B2 | c.999G>T (p.Arg333=)
| |
16 | g.67436785C>A | CA396282888 | HSD11B2 | c.1000C>A (p.Pro334Thr)
| |
16 | g.67436785C= | CA2229310621 | HSD11B2 | c.1000C= (p.Pro334=)
| |
16 | g.67436785C>G | CA396282890 | HSD11B2 | c.1000C>G (p.Pro334Ala)
| |
16 | g.67436785C>T | CA282323462 | HSD11B2 | c.1000C>T (p.Pro334Ser)
| dbSNP gnomAD v4 |
16 | g.67436786C>A | CA396282898 | HSD11B2 | c.1001C>A (p.Pro334His)
| |
16 | g.67436786C= | CA2229310626 | HSD11B2 | c.1001C= (p.Pro334=)
| |
16 | g.67436786C>G | CA396282901 | HSD11B2 | c.1001C>G (p.Pro334Arg)
| |
16 | g.67436786C>T | CA396282896 | HSD11B2 | c.1001C>T (p.Pro334Leu)
| dbSNP |
16 | g.67436787C>A | CA496083093 | HSD11B2 | c.1002C>A (p.Pro334=)
| |
16 | g.67436787C>G | CA496083094 | HSD11B2 | c.1002C>G (p.Pro334=)
| |
16 | g.67436787C>T | CA496083095 | HSD11B2 | c.1002C>T (p.Pro334=)
| gnomAD v4 |
16 | g.67436788C>A | CA396282913 | HSD11B2 | c.1003C>A (p.Arg335Ser)
| |
16 | g.67436788C= | CA2229310628 | HSD11B2 | c.1003C= (p.Arg335=)
| |
16 | g.67436788C>G | CA396282918 | HSD11B2 | c.1003C>G (p.Arg335Gly)
| |
16 | g.67436788C>T | CA8110795 | HSD11B2 | c.1003C>T (p.Arg335Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436789G>A | CA8110796 | HSD11B2 | c.1004G>A (p.Arg335His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436789G>C | CA282323468 | HSD11B2 | c.1004G>C (p.Arg335Pro)
| dbSNP |
16 | g.67436789G= | CA2229310631 | HSD11B2 | c.1004G= (p.Arg335=)
| |
16 | g.67436789G>T | CA396282931 | HSD11B2 | c.1004G>T (p.Arg335Leu)
| |
16 | g.67436790C>A | CA496083098 | HSD11B2 | c.1005C>A (p.Arg335=)
| |
16 | g.67436790C>G | CA496083097 | HSD11B2 | c.1005C>G (p.Arg335=)
| |
16 | g.67436790C>T | CA496083096 | HSD11B2 | c.1005C>T (p.Arg335=)
| |
16 | g.67436791C>A | CA8110797 | HSD11B2 | c.1006C>A (p.Arg336Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436791C= | CA2229310636 | HSD11B2 | c.1006C= (p.Arg336=)
| |
16 | g.67436791C>G | CA396282938 | HSD11B2 | c.1006C>G (p.Arg336Gly)
| |
16 | g.67436791C>T | CA396282945 | HSD11B2 | c.1006C>T (p.Arg336Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436792G>A | CA8110798 | HSD11B2 | c.1007G>A (p.Arg336His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436792G>C | CA396282954 | HSD11B2 | c.1007G>C (p.Arg336Pro)
| |
16 | g.67436792G= | CA2229310640 | HSD11B2 | c.1007G= (p.Arg336=)
| |
16 | g.67436792G>T | CA396282971 | HSD11B2 | c.1007G>T (p.Arg336Leu)
| |
16 | g.67436793C>A | CA496083099 | HSD11B2 | c.1008C>A (p.Arg336=)
| |
16 | g.67436793C>G | CA496083100 | HSD11B2 | c.1008C>G (p.Arg336=)
| |
16 | g.67436793C>T | CA496083101 | HSD11B2 | c.1008C>T (p.Arg336=)
| |
16 | g.67436794C>A | CA396282974 | HSD11B2 | c.1009C>A (p.Arg337Ser)
| dbSNP |
16 | g.67436794C= | CA2229310644 | HSD11B2 | c.1009C= (p.Arg337=)
| |
16 | g.67436794C>G | CA396282973 | HSD11B2 | c.1009C>G (p.Arg337Gly)
| |
16 | g.67436794C>T | CA121881 | HSD11B2 | c.1009C>T (p.Arg337Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436794_67436797delinsCGCT | CA2229310647 | HSD11B2 | c.1009_1012delinsCGCT (p.Arg337=)
| |
16 | g.67436795G>A | CA282323483 | HSD11B2 | c.1010G>A (p.Arg337His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436795G>C | CA396282978 | HSD11B2 | c.1010G>C (p.Arg337Pro)
| |
16 | g.67436795G= | CA2229310656 | HSD11B2 | c.1010G= (p.Arg337=)
| |
16 | g.67436795G>T | CA396282986 | HSD11B2 | c.1010G>T (p.Arg337Leu)
| ClinVar dbSNP |
16 | g.67436795_67436797del | CA121883 | HSD11B2 | c.1010_1012del (p.Arg337_Tyr338delinsHis)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436796C>A | CA282328114 | HSD11B2 | c.1011C>A (p.Arg337=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436796C= | CA2229310658 | HSD11B2 | c.1011C= (p.Arg337=)
| |
16 | g.67436796C>G | CA495992048 | HSD11B2 | c.1011C>G (p.Arg337=)
| |
16 | g.67436796C>T | CA495992051 | HSD11B2 | c.1011C>T (p.Arg337=)
| |
16 | g.67436797T>A | CA396283888 | HSD11B2 | c.1012T>A (p.Tyr338Asn)
| |
16 | g.67436797T>C | CA129702 | HSD11B2 | c.1012T>C (p.Tyr338His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436797T>G | CA396283896 | HSD11B2 | c.1012T>G (p.Tyr338Asp)
| gnomAD v4 |
16 | g.67436797T= | CA2229310666 | HSD11B2 | c.1012T= (p.Tyr338=)
| |
16 | g.67436798A>C | CA396283899 | HSD11B2 | c.1013A>C (p.Tyr338Ser)
| |
16 | g.67436798A>G | CA396283904 | HSD11B2 | c.1013A>G (p.Tyr338Cys)
| gnomAD v4 |
16 | g.67436798A>T | CA396283908 | HSD11B2 | c.1013A>T (p.Tyr338Phe)
| |
16 | g.67436799T>A | CA396283914 | HSD11B2 | c.1014T>A (p.Tyr338Ter)
| |
16 | g.67436799T>C | CA495992060 | HSD11B2 | c.1014T>C (p.Tyr338=)
| |
16 | g.67436799T>G | CA396283917 | HSD11B2 | c.1014T>G (p.Tyr338Ter)
| |
16 | g.67436800T>A | CA396283921 | HSD11B2 | c.1015T>A (p.Tyr339Asn)
| |
16 | g.67436800T>C | CA396283929 | HSD11B2 | c.1015T>C (p.Tyr339His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436800T>G | CA396283922 | HSD11B2 | c.1015T>G (p.Tyr339Asp)
| |
16 | g.67436800T= | CA2229310670 | HSD11B2 | c.1015T= (p.Tyr339=)
| |
16 | g.67436801A= | CA2229310675 | HSD11B2 | c.1016A= (p.Tyr339=)
| |
16 | g.67436801A>C | CA396283931 | HSD11B2 | c.1016A>C (p.Tyr339Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436801A>G | CA396283933 | HSD11B2 | c.1016A>G (p.Tyr339Cys)
| |
16 | g.67436801A>T | CA396283932 | HSD11B2 | c.1016A>T (p.Tyr339Phe)
| |
16 | g.67436801_67436802delinsAC | CA2229310673 | HSD11B2 | c.1016_1017delinsAC (p.Tyr339=)
| |
16 | g.67436802C>A | CA396283936 | HSD11B2 | c.1017C>A (p.Tyr339Ter)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436802C= | CA2229310677 | HSD11B2 | c.1017C= (p.Tyr339=)
| |
16 | g.67436802C>G | CA396283937 | HSD11B2 | c.1017C>G (p.Tyr339Ter)
| COSMIC |
16 | g.67436802C>T | CA495992068 | HSD11B2 | c.1017C>T (p.Tyr339=)
| |
16 | g.67436805del | CA1139664738 | HSD11B2 | c.1020del (p.Gly341AlafsTer?)
| ClinVar dbSNP |
16 | g.67436803C>A | CA396283947 | HSD11B2 | c.1018C>A (p.Pro340Thr)
| |
16 | g.67436803C= | CA2229310679 | HSD11B2 | c.1018C= (p.Pro340=)
| |
16 | g.67436803C>G | CA396283948 | HSD11B2 | c.1018C>G (p.Pro340Ala)
| dbSNP |
16 | g.67436803C>T | CA396283952 | HSD11B2 | c.1018C>T (p.Pro340Ser)
| |
16 | g.67436804C>A | CA396283957 | HSD11B2 | c.1019C>A (p.Pro340His)
| gnomAD v4 |
16 | g.67436804C= | CA2229310681 | HSD11B2 | c.1019C= (p.Pro340=)
| |
16 | g.67436804C>G | CA396283961 | HSD11B2 | c.1019C>G (p.Pro340Arg)
| |
16 | g.67436804C>T | CA396283968 | HSD11B2 | c.1019C>T (p.Pro340Leu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436805C>A | CA495992076 | HSD11B2 | c.1020C>A (p.Pro340=)
| COSMIC |
16 | g.67436805C= | CA2229310685 | HSD11B2 | c.1020C= (p.Pro340=)
| |
16 | g.67436805C>G | CA495992078 | HSD11B2 | c.1020C>G (p.Pro340=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436805C>T | CA8110799 | HSD11B2 | c.1020C>T (p.Pro340=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436806G>A | CA396283972 | HSD11B2 | c.1021G>A (p.Gly341Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436806G>C | CA396283975 | HSD11B2 | c.1021G>C (p.Gly341Arg)
| |
16 | g.67436806G= | CA2229310687 | HSD11B2 | c.1021G= (p.Gly341=)
| |
16 | g.67436806G>T | CA396283979 | HSD11B2 | c.1021G>T (p.Gly341Cys)
| |
16 | g.67436807G>A | CA396283999 | HSD11B2 | c.1022G>A (p.Gly341Asp)
| |
16 | g.67436807G>C | CA396283994 | HSD11B2 | c.1022G>C (p.Gly341Ala)
| |
16 | g.67436807G>T | CA396283996 | HSD11B2 | c.1022G>T (p.Gly341Val)
| |
16 | g.67436808C>A | CA495992085 | HSD11B2 | c.1023C>A (p.Gly341=)
| |
16 | g.67436808C>G | CA495992087 | HSD11B2 | c.1023C>G (p.Gly341=)
| |
16 | g.67436808C>T | CA495992089 | HSD11B2 | c.1023C>T (p.Gly341=)
| |
16 | g.67436809C>A | CA396284002 | HSD11B2 | c.1024C>A (p.Gln342Lys)
| |
16 | g.67436809C>G | CA396284004 | HSD11B2 | c.1024C>G (p.Gln342Glu)
| |
16 | g.67436809C>T | CA396284005 | HSD11B2 | c.1024C>T (p.Gln342Ter)
| |
16 | g.67436810A= | CA2229310692 | HSD11B2 | c.1025A= (p.Gln342=)
| |
16 | g.67436810A>C | CA396284010 | HSD11B2 | c.1025A>C (p.Gln342Pro)
| |
16 | g.67436810A>G | CA396284013 | HSD11B2 | c.1025A>G (p.Gln342Arg)
| dbSNP gnomAD v4 |
16 | g.67436810A>T | CA396284015 | HSD11B2 | c.1025A>T (p.Gln342Leu)
| |
16 | g.67436811G>A | CA495992095 | HSD11B2 | c.1026G>A (p.Gln342=)
| |
16 | g.67436811G>C | CA396284020 | HSD11B2 | c.1026G>C (p.Gln342His)
| gnomAD v4 |
16 | g.67436811G>T | CA396284024 | HSD11B2 | c.1026G>T (p.Gln342His)
| |
16 | g.67436812G>A | CA396284030 | HSD11B2 | c.1027G>A (p.Gly343Ser)
| dbSNP |
16 | g.67436812G>C | CA396284034 | HSD11B2 | c.1027G>C (p.Gly343Arg)
| |
16 | g.67436812G= | CA2229310694 | HSD11B2 | c.1027G= (p.Gly343=)
| |
16 | g.67436812G>T | CA396284037 | HSD11B2 | c.1027G>T (p.Gly343Cys)
| |
16 | g.67436813G>A | CA396284042 | HSD11B2 | c.1028G>A (p.Gly343Asp)
| |
16 | g.67436813G>C | CA396284041 | HSD11B2 | c.1028G>C (p.Gly343Ala)
| |
16 | g.67436813G>T | CA396284040 | HSD11B2 | c.1028G>T (p.Gly343Val)
| |
16 | g.67436814C>A | CA495992102 | HSD11B2 | c.1029C>A (p.Gly343=)
| |
16 | g.67436814C>G | CA495992104 | HSD11B2 | c.1029C>G (p.Gly343=)
| |
16 | g.67436814C>T | CA495992105 | HSD11B2 | c.1029C>T (p.Gly343=)
| |
16 | g.67436815C>A | CA396284047 | HSD11B2 | c.1030C>A (p.Leu344Met)
| |
16 | g.67436815C>G | CA396284043 | HSD11B2 | c.1030C>G (p.Leu344Val)
| |
16 | g.67436815C>T | CA495992108 | HSD11B2 | c.1030C>T (p.Leu344=)
| gnomAD v4 |
16 | g.67436816T>A | CA8110800 | HSD11B2 | c.1031T>A (p.Leu344Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436816T>C | CA396284054 | HSD11B2 | c.1031T>C (p.Leu344Pro)
| |
16 | g.67436816T>G | CA396284062 | HSD11B2 | c.1031T>G (p.Leu344Arg)
| |
16 | g.67436816T= | CA2229310698 | HSD11B2 | c.1031T= (p.Leu344=)
| |
16 | g.67436817G>A | CA495992116 | HSD11B2 | c.1032G>A (p.Leu344=)
| dbSNP gnomAD v4 |
16 | g.67436817G>C | CA495992113 | HSD11B2 | c.1032G>C (p.Leu344=)
| |
16 | g.67436817G= | CA2229310701 | HSD11B2 | c.1032G= (p.Leu344=)
| |
16 | g.67436817G>T | CA495992114 | HSD11B2 | c.1032G>T (p.Leu344=)
| |
16 | g.67436820dup | CA2842144248 | HSD11B2 | c.1035dup (p.Leu346AlafsTer11)
| |
16 | g.67436818G>A | CA396284067 | HSD11B2 | c.1033G>A (p.Gly345Arg)
| |
16 | g.67436818G>C | CA396284068 | HSD11B2 | c.1033G>C (p.Gly345Arg)
| |
16 | g.67436818G>T | CA396284069 | HSD11B2 | c.1033G>T (p.Gly345Trp)
| |
16 | g.67436819G>A | CA396284070 | HSD11B2 | c.1034G>A (p.Gly345Glu)
| gnomAD v4 |
16 | g.67436819G>C | CA396284071 | HSD11B2 | c.1034G>C (p.Gly345Ala)
| |
16 | g.67436819G>T | CA396284075 | HSD11B2 | c.1034G>T (p.Gly345Val)
| |
16 | g.67436822_67436863dup | CA2633777136 | HSD11B2 | c.1037_1078dup (p.Arg359_Arg360insLeuMetTyrPheIleHisTyrTyrLeuProGluGlyLeuArg)
| gnomAD v4 |
16 | g.67436820G>A | CA495992122 | HSD11B2 | c.1035G>A (p.Gly345=)
| dbSNP gnomAD v4 |
16 | g.67436820G>C | CA495992123 | HSD11B2 | c.1035G>C (p.Gly345=)
| gnomAD v4 |
16 | g.67436820G= | CA2229310703 | HSD11B2 | c.1035G= (p.Gly345=)
| |
16 | g.67436820G>T | CA495992125 | HSD11B2 | c.1035G>T (p.Gly345=)
| |