Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67436217_67436228del | CA2807429715 | HSD11B2 | c.665-32_665-21del (n.665-32_665-21del) n.528-32_528-21del | |
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) | |
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 |