Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67436171dup | CA8110698 | HSD11B2 | c.664+29dup (n.664+29dup) n.527+29dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436171_67436172insAACCAAACACACCCAACACA | CA2807429703 | HSD11B2 | c.664+29_664+30insAACCAAACACACCCAACACA (n.664+29_664+30insAACCAAACACACCCAACACA) n.527+29_527+30insAACCAAACACACCCAACACA | |
16 | g.67436172G>A | CA623119575 | HSD11B2 | c.664+30G>A (n.664+30G>A) n.527+30G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436172G>C | CA2807429704 | HSD11B2 | c.664+30G>C (n.664+30G>C) n.527+30G>C | |
16 | g.67436172G= | CA2229309847 | HSD11B2 | c.664+30G= (n.664+30G=) n.527+30G= | |
16 | g.67436172G>T | CA2633779366 | HSD11B2 | c.664+30G>T (n.664+30G>T) n.527+30G>T | gnomAD v4 |
16 | g.67436173G>A | CA2229309850 | HSD11B2 | c.664+31G>A (n.664+31G>A) n.527+31G>A | dbSNP |
16 | g.67436173G= | CA2229309849 | HSD11B2 | c.664+31G= (n.664+31G=) n.527+31G= | |
16 | g.67436173G>T | CA282322651 | HSD11B2 | c.664+31G>T (n.664+31G>T) n.527+31G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436175G>A | CA2633779368 | HSD11B2 | c.664+33G>A (n.664+33G>A) n.527+33G>A | gnomAD v4 |
16 | g.67436175_67436176delinsGC | CA2229309852 | HSD11B2 | c.664+33_664+34delinsGC (n.664+33_664+34delinsGC) n.527+33_527+34delinsGC | |
16 | g.67436176C>A | CA2229309859 | HSD11B2 | c.664+34C>A (n.664+34C>A) n.527+34C>A | dbSNP gnomAD v4 |
16 | g.67436176C= | CA2229309857 | HSD11B2 | c.664+34C= (n.664+34C=) n.527+34C= | |
16 | g.67436176C>G | CA282322657 | HSD11B2 | c.664+34C>G (n.664+34C>G) n.527+34C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436176C>T | CA2633779372 | HSD11B2 | c.664+34C>T (n.664+34C>T) n.527+34C>T | gnomAD v4 |
16 | g.67436180dup | CA919730037 | HSD11B2 | c.664+38dup (n.664+38dup) n.527+38dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436180del | CA8110701 | HSD11B2 | c.664+38del (n.664+38del) n.527+38del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436177C>A | CA623119576 | HSD11B2 | c.664+35C>A (n.664+35C>A) n.527+35C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436177C= | CA2229309862 | HSD11B2 | c.664+35C= (n.664+35C=) n.527+35C= | |
16 | g.67436177C>T | CA723036852 | HSD11B2 | c.664+35C>T (n.664+35C>T) n.527+35C>T | dbSNP gnomAD v4 |
16 | g.67436178C= | CA2229309864 | HSD11B2 | c.664+36C= (n.664+36C=) n.527+36C= | |
16 | g.67436178C>T | CA978416335 | HSD11B2 | c.664+36C>T (n.664+36C>T) n.527+36C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436179C= | CA2229309866 | HSD11B2 | c.664+37C= (n.664+37C=) n.527+37C= | |
16 | g.67436179C>T | CA282322688 | HSD11B2 | c.664+37C>T (n.664+37C>T) n.527+37C>T | dbSNP gnomAD v4 |
16 | g.67436180C= | CA2229309870 | HSD11B2 | c.664+38C= (n.664+38C=) n.527+38C= | |
16 | g.67436180C>T | CA8110702 | HSD11B2 | c.664+38C>T (n.664+38C>T) n.527+38C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436181T>G | CA2633779384 | HSD11B2 | c.664+39T>G (n.664+39T>G) n.527+39T>G | gnomAD v4 |
16 | g.67436182G>A | CA8110703 | HSD11B2 | c.664+40G>A (n.664+40G>A) n.527+40G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436182G= | CA2229309874 | HSD11B2 | c.664+40G= (n.664+40G=) n.527+40G= | |
16 | g.67436183G>A | CA2229309876 | HSD11B2 | c.664+41G>A (n.664+41G>A) n.527+41G>A | dbSNP gnomAD v4 |
16 | g.67436183G= | CA2229309875 | HSD11B2 | c.664+41G= (n.664+41G=) n.527+41G= | |
16 | g.67436184G= | CA2229309878 | HSD11B2 | c.664+42G= (n.664+42G=) n.527+42G= | |
16 | g.67436184G>T | CA8110704 | HSD11B2 | c.664+42G>T (n.664+42G>T) n.527+42G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436185G>A | CA2633779391 | HSD11B2 | c.664+43G>A (n.664+43G>A) n.527+43G>A | gnomAD v4 |
16 | g.67436186T>G | CA623119577 | HSD11B2 | c.664+44T>G (n.664+44T>G) n.527+44T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436186T= | CA2229309881 | HSD11B2 | c.664+44T= (n.664+44T=) n.527+44T= | |
16 | g.67436186_67436187delinsTG | CA2229309880 | HSD11B2 | c.664+44_664+45delinsTG (n.664+44_664+45delinsTG) n.527+44_527+45delinsTG | |
16 | g.67436186_67436193delinsTGGGGGAG | CA2229309882 | HSD11B2 | c.664+44_664+51delinsTGGGGGAG (n.664+44_664+51delinsTGGGGGAG) n.527+44_527+51delinsTGGGGGAG | |
16 | g.67436187G>A | CA2229309888 | HSD11B2 | c.664+45G>A (n.664+45G>A) n.527+45G>A | dbSNP gnomAD v4 |
16 | g.67436187G>C | CA8110706 | HSD11B2 | c.664+45G>C (n.664+45G>C) n.527+45G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436187G= | CA2229309887 | HSD11B2 | c.664+45G= (n.664+45G=) n.527+45G= | |
16 | g.67436187G>T | CA8110707 | HSD11B2 | c.664+45G>T (n.664+45G>T) n.527+45G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436191del | CA8110705 | HSD11B2 | c.664+49del (n.664+49del) n.527+49del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436189_67436195del | CA623119578 | HSD11B2 | c.664+47_665-54del (n.664+47_665-54del) n.527+47_528-54del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436189G>A | CA623119579 | HSD11B2 | c.664+47G>A (n.664+47G>A) n.527+47G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436189G= | CA2229309890 | HSD11B2 | c.664+47G= (n.664+47G=) n.527+47G= | |
16 | g.67436191G>A | CA2633779396 | HSD11B2 | c.664+49G>A (n.664+49G>A) n.527+49G>A | gnomAD v4 |
16 | g.67436191G>T | CA2633779397 | HSD11B2 | c.664+49G>T (n.664+49G>T) n.527+49G>T | gnomAD v4 |
16 | g.67436192A= | CA2229309894 | HSD11B2 | c.664+50A= (n.664+50A=) n.527+50A= | |
16 | g.67436192A>G | CA8110708 | HSD11B2 | c.664+50A>G (n.664+50A>G) n.527+50A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436192A>T | CA282322753 | HSD11B2 | c.664+50A>T (n.664+50A>T) n.527+50A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436193G>A | CA623119580 | HSD11B2 | c.664+51G>A (n.664+51G>A) n.527+51G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436193G>C | CA2576029161 | HSD11B2 | c.664+51G>C (n.664+51G>C) n.527+51G>C | gnomAD v4 |
16 | g.67436193G= | CA2229309897 | HSD11B2 | c.664+51G= (n.664+51G=) n.527+51G= | |
16 | g.67436193G>T | CA2633779399 | HSD11B2 | c.664+51G>T (n.664+51G>T) n.527+51G>T | gnomAD v4 |
16 | g.67436194G>A | CA623119581 | HSD11B2 | c.664+52G>A (n.664+52G>A) n.527+52G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436194G= | CA2229309899 | HSD11B2 | c.664+52G= (n.664+52G=) n.527+52G= | |
16 | g.67436195G>A | CA2633779403 | HSD11B2 | c.665-54G>A (n.665-54G>A) n.528-54G>A | gnomAD v4 |
16 | g.67436196C= | CA2229309902 | HSD11B2 | c.665-53C= (n.665-53C=) n.528-53C= | |
16 | g.67436196C>T | CA282322767 | HSD11B2 | c.665-53C>T (n.665-53C>T) n.528-53C>T | dbSNP gnomAD v4 |
16 | g.67436197T>C | CA2633779405 | HSD11B2 | c.665-52T>C (n.665-52T>C) n.528-52T>C | gnomAD v4 |
16 | g.67436197T>G | CA723036875 | HSD11B2 | c.665-52T>G (n.665-52T>G) n.528-52T>G | dbSNP |
16 | g.67436197T= | CA2229309903 | HSD11B2 | c.665-52T= (n.665-52T=) n.528-52T= | |
16 | g.67436200G>C | CA623119582 | HSD11B2 | c.665-49G>C (n.665-49G>C) n.528-49G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436200G= | CA2229309906 | HSD11B2 | c.665-49G= (n.665-49G=) n.528-49G= | |
16 | g.67436201G>A | CA2229309910 | HSD11B2 | c.665-48G>A (n.665-48G>A) n.528-48G>A | dbSNP |
16 | g.67436201G= | CA2229309908 | HSD11B2 | c.665-48G= (n.665-48G=) n.528-48G= | |
16 | g.67436201G>T | CA2633779407 | HSD11B2 | c.665-48G>T (n.665-48G>T) n.528-48G>T | gnomAD v4 |
16 | g.67436202G>A | CA282322772 | HSD11B2 | c.665-47G>A (n.665-47G>A) n.528-47G>A | dbSNP |
16 | g.67436202G= | CA2229309911 | HSD11B2 | c.665-47G= (n.665-47G=) n.528-47G= | |
16 | g.67436204G>A | CA2576029162 | HSD11B2 | c.665-45G>A (n.665-45G>A) n.528-45G>A | |
16 | g.67436205C>A | CA2633779410 | HSD11B2 | c.665-44C>A (n.665-44C>A) n.528-44C>A | gnomAD v4 |
16 | g.67436205C= | CA2229309914 | HSD11B2 | c.665-44C= (n.665-44C=) n.528-44C= | |
16 | g.67436205C>T | CA2229309915 | HSD11B2 | c.665-44C>T (n.665-44C>T) n.528-44C>T | dbSNP |
16 | g.67436207_67436208del | CA2633779408 | HSD11B2 | c.665-42_665-41del (n.665-42_665-41del) n.528-42_528-41del | gnomAD v4 |
16 | g.67436206C= | CA2229309917 | HSD11B2 | c.665-43C= (n.665-43C=) n.528-43C= | |
16 | g.67436206C>T | CA623119583 | HSD11B2 | c.665-43C>T (n.665-43C>T) n.528-43C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436208C>A | CA2576029163 | HSD11B2 | c.665-41C>A (n.665-41C>A) n.528-41C>A | |
16 | g.67436212C= | CA2229309919 | HSD11B2 | c.665-37C= (n.665-37C=) n.528-37C= | |
16 | g.67436212C>G | CA8110709 | HSD11B2 | c.665-37C>G (n.665-37C>G) n.528-37C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436214A>G | CA2576029164 | HSD11B2 | c.665-35A>G (n.665-35A>G) n.528-35A>G | |
16 | g.67436216A= | CA2229309921 | HSD11B2 | c.665-33A= (n.665-33A=) n.528-33A= | |
16 | g.67436216A>T | CA2229309922 | HSD11B2 | c.665-33A>T (n.665-33A>T) n.528-33A>T | dbSNP |
16 | g.67436217G>A | CA723036887 | HSD11B2 | c.665-32G>A (n.665-32G>A) n.528-32G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436217G= | CA2229309924 | HSD11B2 | c.665-32G= (n.665-32G=) n.528-32G= | |
16 | g.67436217_67436228del | CA2807429715 | HSD11B2 | c.665-32_665-21del (n.665-32_665-21del) n.528-32_528-21del | |
16 | g.67436219T>C | CA8110710 | HSD11B2 | c.665-30T>C (n.665-30T>C) n.528-30T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436219T= | CA2229309926 | HSD11B2 | c.665-30T= (n.665-30T=) n.528-30T= | |
16 | g.67436220G>A | CA2633779414 | HSD11B2 | c.665-29G>A (n.665-29G>A) n.528-29G>A | gnomAD v4 |
16 | g.67436221A>G | CA2633779415 | HSD11B2 | c.665-28A>G (n.665-28A>G) n.528-28A>G | gnomAD v4 |
16 | g.67436222G>A | CA282322790 | HSD11B2 | c.665-27G>A (n.665-27G>A) n.528-27G>A | dbSNP |
16 | g.67436222G= | CA2229309927 | HSD11B2 | c.665-27G= (n.665-27G=) n.528-27G= | |
16 | g.67436223C>A | CA8110711 | HSD11B2 | c.665-26C>A (n.665-26C>A) n.528-26C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436223C= | CA2229309929 | HSD11B2 | c.665-26C= (n.665-26C=) n.528-26C= | |
16 | g.67436225G>C | CA282322798 | HSD11B2 | c.665-24G>C (n.665-24G>C) n.528-24G>C | dbSNP |
16 | g.67436225G= | CA2229309930 | HSD11B2 | c.665-24G= (n.665-24G=) n.528-24G= | |
16 | g.67436225G>T | CA2229309932 | HSD11B2 | c.665-24G>T (n.665-24G>T) n.528-24G>T | dbSNP |
16 | g.67436226C= | CA2229309935 | HSD11B2 | c.665-23C= (n.665-23C=) n.528-23C= | |
16 | g.67436226C>G | CA8110713 | HSD11B2 | c.665-23C>G (n.665-23C>G) n.528-23C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436226C>T | CA623119584 | HSD11B2 | c.665-23C>T (n.665-23C>T) n.528-23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436227C= | CA2229309939 | HSD11B2 | c.665-22C= (n.665-22C=) n.528-22C= | |
16 | g.67436227C>G | CA978416338 | HSD11B2 | c.665-22C>G (n.665-22C>G) n.528-22C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436228_67436231dup | CA8110712 | HSD11B2 | c.665-21_665-18dup (n.665-21_665-18dup) n.528-21_528-18dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436228C= | CA2229309942 | HSD11B2 | c.665-21C= (n.665-21C=) n.528-21C= | |
16 | g.67436228C>G | CA2229309943 | HSD11B2 | c.665-21C>G (n.665-21C>G) n.528-21C>G | dbSNP |
16 | g.67436228C>T | CA2576029165 | HSD11B2 | c.665-21C>T (n.665-21C>T) n.528-21C>T | gnomAD v4 |
16 | g.67436231C= | CA2229309944 | HSD11B2 | c.665-18C= (n.665-18C=) n.528-18C= | |
16 | g.67436231C>T | CA2229309945 | HSD11B2 | c.665-18C>T (n.665-18C>T) n.528-18C>T | dbSNP |
16 | g.67436232T>A | CA2807429717 | HSD11B2 | c.665-17T>A (n.665-17T>A) n.528-17T>A | |
16 | g.67436232T>C | CA2576029166 | HSD11B2 | c.665-17T>C (n.665-17T>C) n.528-17T>C | gnomAD v4 |
16 | g.67436233C= | CA2229309946 | HSD11B2 | c.665-16C= (n.665-16C=) n.528-16C= | |
16 | g.67436233C>G | CA2229309947 | HSD11B2 | c.665-16C>G (n.665-16C>G) n.528-16C>G | dbSNP gnomAD v4 |
16 | g.67436235C>G | CA2633779418 | HSD11B2 | c.665-14C>G (n.665-14C>G) n.528-14C>G | gnomAD v4 |
16 | g.67436237A>G | CA2576029167 | HSD11B2 | c.665-12A>G (n.665-12A>G) n.528-12A>G | gnomAD v4 |
16 | g.67436238T>C | CA2633779419 | HSD11B2 | c.665-11T>C (n.665-11T>C) n.528-11T>C | gnomAD v4 |
16 | g.67436239C>A | CA2807429719 | HSD11B2 | c.665-10C>A (n.665-10C>A) n.528-10C>A | |
16 | g.67436239C= | CA2229309948 | HSD11B2 | c.665-10C= (n.665-10C=) n.528-10C= | |
16 | g.67436239C>G | CA282322800 | HSD11B2 | c.665-10C>G (n.665-10C>G) n.528-10C>G | dbSNP |
16 | g.67436240C= | CA2229309949 | HSD11B2 | c.665-9C= (n.665-9C=) n.528-9C= | |
16 | g.67436240C>T | CA8110714 | HSD11B2 | c.665-9C>T (n.665-9C>T) n.528-9C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436241A= | CA2229309952 | HSD11B2 | c.665-8A= (n.665-8A=) n.528-8A= | |
16 | g.67436241A>G | CA623119585 | HSD11B2 | c.665-8A>G (n.665-8A>G) n.528-8A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436241A>T | CA623119586 | HSD11B2 | c.665-8A>T (n.665-8A>T) n.528-8A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436242T>G | CA978416339 | HSD11B2 | c.665-7T>G (n.665-7T>G) n.528-7T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436242T= | CA2229309954 | HSD11B2 | c.665-7T= (n.665-7T=) n.528-7T= | |
16 | g.67436244C>A | CA2633779422 | HSD11B2 | c.665-5C>A (n.665-5C>A) n.528-5C>A | gnomAD v4 |
16 | g.67436244C= | CA2229309958 | HSD11B2 | c.665-5C= (n.665-5C=) n.528-5C= | |
16 | g.67436244C>T | CA8110715 | HSD11B2 | c.665-5C>T (n.665-5C>T) n.528-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436245G>A | CA8110716 | HSD11B2 | c.665-4G>A (n.665-4G>A) n.528-4G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436245G= | CA2229309960 | HSD11B2 | c.665-4G= (n.665-4G=) n.528-4G= | |
16 | g.67436245G>T | CA645586894 | HSD11B2 | c.665-4G>T (n.665-4G>T) n.528-4G>T | dbSNP COSMIC |
16 | g.67436246C= | CA2229309963 | HSD11B2 | c.665-3C= (n.665-3C=) n.528-3C= | |
16 | g.67436246C>T | CA623119587 | HSD11B2 | c.665-3C>T (n.665-3C>T) n.528-3C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436247A>C | CA396280049 | HSD11B2 | c.665-2A>C (n.665-2A>C) n.528-2A>C | |
16 | g.67436247A>G | CA396280051 | HSD11B2 | c.665-2A>G (n.665-2A>G) n.528-2A>G | |
16 | g.67436247A>T | CA396280053 | HSD11B2 | c.665-2A>T (n.665-2A>T) n.528-2A>T | |
16 | g.67436248G>A | CA396280056 | HSD11B2 | c.665-1G>A (n.665-1G>A) n.528-1G>A | dbSNP gnomAD v4 |
16 | g.67436248G>C | CA396280059 | HSD11B2 | c.665-1G>C (n.665-1G>C) n.528-1G>C | |
16 | g.67436248G= | CA2229309965 | HSD11B2 | c.665-1G= (n.665-1G=) n.528-1G= | |
16 | g.67436248G>T | CA396280065 | HSD11B2 | c.665-1G>T (n.665-1G>T) n.528-1G>T | |
16 | g.67436251del | CA2576029168 | HSD11B2 | c.667del n.530del | gnomAD v4 |
16 | g.67436249G>A | CA396280068 | HSD11B2 | c.665G>A (p.Gly222Glu) n.528G>A | |
16 | g.67436249G>C | CA396280071 | HSD11B2 | c.665G>C (p.Gly222Ala) n.528G>C | |
16 | g.67436249G>T | CA396280072 | HSD11B2 | c.665G>T (p.Gly222Val) n.528G>T | |
16 | g.67436250G>A | CA496082813 | HSD11B2 | c.666G>A (p.Gly222=) n.529G>A | |
16 | g.67436250G>C | CA496082814 | HSD11B2 | c.666G>C (p.Gly222=) n.529G>C | |
16 | g.67436250G>T | CA496082815 | HSD11B2 | c.666G>T (p.Gly222=) n.529G>T | |
16 | g.67436251G>A | CA121888 | HSD11B2 | c.667G>A (p.Asp223Asn) n.530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436251G>C | CA396280073 | HSD11B2 | c.667G>C (p.Asp223His) n.530G>C | |
16 | g.67436251G= | CA2229309968 | HSD11B2 | c.667G= (p.Asp223=) n.530G= | |
16 | g.67436251G>T | CA396280076 | HSD11B2 | c.667G>T (p.Asp223Tyr) n.530G>T | |
16 | g.67436252A>C | CA396280087 | HSD11B2 | c.668A>C (p.Asp223Ala) n.531A>C | |
16 | g.67436252A>G | CA396280085 | HSD11B2 | c.668A>G (p.Asp223Gly) n.531A>G | |
16 | g.67436252A>T | CA396280083 | HSD11B2 | c.668A>T (p.Asp223Val) n.531A>T | |
16 | g.67436253C>A | CA396280095 | HSD11B2 | c.669C>A (p.Asp223Glu) n.532C>A | |
16 | g.67436253C= | CA2229309972 | HSD11B2 | c.669C= (p.Asp223=) n.532C= | |
16 | g.67436253C>G | CA396280090 | HSD11B2 | c.669C>G (p.Asp223Glu) n.532C>G | |
16 | g.67436253C>T | CA8110717 | HSD11B2 | c.669C>T (p.Asp223=) n.532C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436254A= | CA2229309975 | HSD11B2 | c.670A= (p.Met224=) n.533A= | |
16 | g.67436254A>C | CA396280096 | HSD11B2 | c.670A>C (p.Met224Leu) n.533A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436254A>G | CA396280101 | HSD11B2 | c.670A>G (p.Met224Val) n.533A>G | |
16 | g.67436254A>T | CA396280104 | HSD11B2 | c.670A>T (p.Met224Leu) n.533A>T | |
16 | g.67436255T>A | CA396280112 | HSD11B2 | c.671T>A (p.Met224Lys) n.534T>A | |
16 | g.67436255T>C | CA396280108 | HSD11B2 | c.671T>C (p.Met224Thr) n.534T>C | |
16 | g.67436255T>G | CA396280106 | HSD11B2 | c.671T>G (p.Met224Arg) n.534T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436255T= | CA2229309979 | HSD11B2 | c.671T= (p.Met224=) n.534T= | |
16 | g.67436256G>A | CA396280116 | HSD11B2 | c.672G>A (p.Met224Ile) n.535G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436256G>C | CA396280120 | HSD11B2 | c.672G>C (p.Met224Ile) n.535G>C | |
16 | g.67436256G= | CA2229309982 | HSD11B2 | c.672G= (p.Met224=) n.535G= | |
16 | g.67436256G>T | CA396280123 | HSD11B2 | c.672G>T (p.Met224Ile) n.535G>T | |
16 | g.67436257C>A | CA8110718 | HSD11B2 | c.673C>A (p.Pro225Thr) n.536C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436257C= | CA2229309983 | HSD11B2 | c.673C= (p.Pro225=) n.536C= | |
16 | g.67436257C>G | CA396280129 | HSD11B2 | c.673C>G (p.Pro225Ala) n.536C>G | gnomAD v4 |
16 | g.67436257C>T | CA396280132 | HSD11B2 | c.673C>T (p.Pro225Ser) n.536C>T | |
16 | g.67436258C>A | CA396280135 | HSD11B2 | c.674C>A (p.Pro225Gln) n.537C>A | |
16 | g.67436258C>G | CA396280140 | HSD11B2 | c.674C>G (p.Pro225Arg) n.537C>G | |
16 | g.67436258C>T | CA396280136 | HSD11B2 | c.674C>T (p.Pro225Leu) n.537C>T | |
16 | g.67436259A= | CA2229309986 | HSD11B2 | c.675A= (p.Pro225=) n.538A= | |
16 | g.67436259A>C | CA496082827 | HSD11B2 | c.675A>C (p.Pro225=) n.538A>C | |
16 | g.67436259A>G | CA8110719 | HSD11B2 | c.675A>G (p.Pro225=) n.538A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436259A>T | CA496082828 | HSD11B2 | c.675A>T (p.Pro225=) n.538A>T | gnomAD v4 |
16 | g.67436259_67436260delinsGA | CA2695223624 | HSD11B2 | c.675_676delinsGA (p.Tyr226Asn) n.538_539delinsGA | |
16 | g.67436260T>A | CA396280145 | HSD11B2 | c.676T>A (p.Tyr226Asn) n.539T>A | |
16 | g.67436260T>C | CA396280148 | HSD11B2 | c.676T>C (p.Tyr226His) n.539T>C | |
16 | g.67436260T>G | CA396280162 | HSD11B2 | c.676T>G (p.Tyr226Asp) n.539T>G | |
16 | g.67436261A>C | CA396280171 | HSD11B2 | c.677A>C (p.Tyr226Ser) n.540A>C | |
16 | g.67436261A>G | CA396280173 | HSD11B2 | c.677A>G (p.Tyr226Cys) n.540A>G | |
16 | g.67436261A>T | CA396280176 | HSD11B2 | c.677A>T (p.Tyr226Phe) n.540A>T | |
16 | g.67436262T>A | CA396280178 | HSD11B2 | c.678T>A (p.Tyr226Ter) | |
16 | g.67436262T>C | CA496082834 | HSD11B2 | c.678T>C (p.Tyr226=) | gnomAD v4 |
16 | g.67436262T>G | CA396280181 | HSD11B2 | c.678T>G (p.Tyr226Ter) | |
16 | g.67436263C>A | CA396280185 | HSD11B2 | c.679C>A (p.Pro227Thr) | |
16 | g.67436263C>G | CA396280189 | HSD11B2 | c.679C>G (p.Pro227Ala) | |
16 | g.67436263C>T | CA396280191 | HSD11B2 | c.679C>T (p.Pro227Ser) | |
16 | g.67436264C>A | CA396280199 | HSD11B2 | c.680C>A (p.Pro227Gln) | gnomAD v4 |
16 | g.67436264C= | CA2229309992 | HSD11B2 | c.680C= (p.Pro227=) | |
16 | g.67436264C>G | CA396280201 | HSD11B2 | c.680C>G (p.Pro227Arg) | dbSNP |
16 | g.67436264C>T | CA121886 | HSD11B2 | c.680C>T (p.Pro227Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436265G>A | CA8110720 | HSD11B2 | c.681G>A (p.Pro227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436265G>C | CA496082839 | HSD11B2 | c.681G>C (p.Pro227=) | |
16 | g.67436265G= | CA2229309997 | HSD11B2 | c.681G= (p.Pro227=) | |
16 | g.67436265G>T | CA496082840 | HSD11B2 | c.681G>T (p.Pro227=) | |
16 | g.67436266T>A | CA396280207 | HSD11B2 | c.682T>A (p.Cys228Ser) | |
16 | g.67436266T>C | CA396280208 | HSD11B2 | c.682T>C (p.Cys228Arg) | gnomAD v4 |
16 | g.67436266T>G | CA396280212 | HSD11B2 | c.682T>G (p.Cys228Gly) | |
16 | g.67436267G>A | CA396280221 | HSD11B2 | c.683G>A (p.Cys228Tyr) | |
16 | g.67436267G>C | CA396280224 | HSD11B2 | c.683G>C (p.Cys228Ser) | |
16 | g.67436267G>T | CA396280226 | HSD11B2 | c.683G>T (p.Cys228Phe) | |
16 | g.67436268C>A | CA396280227 | HSD11B2 | c.684C>A (p.Cys228Ter) | |
16 | g.67436268C>G | CA396280228 | HSD11B2 | c.684C>G (p.Cys228Trp) | gnomAD v4 |
16 | g.67436268C>T | CA496082845 | HSD11B2 | c.684C>T (p.Cys228=) | gnomAD v4 |
16 | g.67436269T>A | CA396280229 | HSD11B2 | c.685T>A (p.Leu229Met) | |
16 | g.67436269T>C | CA496082846 | HSD11B2 | c.685T>C (p.Leu229=) | |
16 | g.67436269T>G | CA396280230 | HSD11B2 | c.685T>G (p.Leu229Val) | |
16 | g.67436270T>A | CA396280231 | HSD11B2 | c.686T>A (p.Leu229Ter) | |
16 | g.67436270T>C | CA396280232 | HSD11B2 | c.686T>C (p.Leu229Ser) | |
16 | g.67436270T>G | CA396280233 | HSD11B2 | c.686T>G (p.Leu229Trp) | |
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) |