Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |