Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30986485A= | CA2216821913 | HSD3B7 | c.385A= (p.Ser129=) c.508A= (p.Ser170=) | |
16 | g.30986485A>C | CA395640041 | HSD3B7 | c.385A>C (p.Ser129Arg) c.508A>C (p.Ser170Arg) | |
16 | g.30986485A>G | CA16607411 | HSD3B7 | c.385A>G (p.Ser129Gly) c.508A>G (p.Ser170Gly) | ClinVar dbSNP |
16 | g.30986485A>T | CA395640042 | HSD3B7 | c.385A>T (p.Ser129Cys) c.508A>T (p.Ser170Cys) | |
16 | g.30986486G>A | CA395640046 | HSD3B7 | c.386G>A (p.Ser129Asn) c.509G>A (p.Ser170Asn) | |
16 | g.30986486G>C | CA395640048 | HSD3B7 | c.386G>C (p.Ser129Thr) c.509G>C (p.Ser170Thr) | gnomAD v4 |
16 | g.30986486G>T | CA395640050 | HSD3B7 | c.386G>T (p.Ser129Ile) c.509G>T (p.Ser170Ile) | |
16 | g.30986487C>A | CA395640052 | HSD3B7 | c.387C>A (p.Ser129Arg) c.510C>A (p.Ser170Arg) | |
16 | g.30986487C= | CA2216821924 | HSD3B7 | c.387C= (p.Ser129=) c.510C= (p.Ser170=) | |
16 | g.30986487C>G | CA395640054 | HSD3B7 | c.387C>G (p.Ser129Arg) c.510C>G (p.Ser170Arg) | |
16 | g.30986487C>T | CA494920106 | HSD3B7 | c.387C>T (p.Ser129=) c.510C>T (p.Ser170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986488A= | CA2216821932 | HSD3B7 | c.388A= (p.Met130=) c.511A= (p.Met171=) | |
16 | g.30986488A>C | CA395640060 | HSD3B7 | c.388A>C (p.Met130Leu) c.511A>C (p.Met171Leu) | |
16 | g.30986488A>G | CA395640058 | HSD3B7 | c.388A>G (p.Met130Val) c.511A>G (p.Met171Val) | ClinVar dbSNP gnomAD v4 |
16 | g.30986488A>T | CA395640056 | HSD3B7 | c.388A>T (p.Met130Leu) c.511A>T (p.Met171Leu) | |
16 | g.30986489T>A | CA395640062 | HSD3B7 | c.389T>A (p.Met130Lys) c.512T>A (p.Met171Lys) | |
16 | g.30986489T>C | CA395640064 | HSD3B7 | c.389T>C (p.Met130Thr) c.512T>C (p.Met171Thr) | |
16 | g.30986489T>G | CA395640066 | HSD3B7 | c.389T>G (p.Met130Arg) c.512T>G (p.Met171Arg) | |
16 | g.30986490G>A | CA395640068 | HSD3B7 | c.390G>A (p.Met130Ile) c.513G>A (p.Met171Ile) | |
16 | g.30986490G>C | CA395640070 | HSD3B7 | c.390G>C (p.Met130Ile) c.513G>C (p.Met171Ile) | dbSNP gnomAD v4 |
16 | g.30986490G= | CA2216821935 | HSD3B7 | c.390G= (p.Met130=) c.513G= (p.Met171=) | |
16 | g.30986490G>T | CA395640072 | HSD3B7 | c.390G>T (p.Met130Ile) c.513G>T (p.Met171Ile) | |
16 | g.30986491G>A | CA395640075 | HSD3B7 | c.391G>A (p.Glu131Lys) c.514G>A (p.Glu172Lys) | gnomAD v4 |
16 | g.30986491G>C | CA395640079 | HSD3B7 | c.391G>C (p.Glu131Gln) c.514G>C (p.Glu172Gln) | |
16 | g.30986491G>T | CA395640077 | HSD3B7 | c.391G>T (p.Glu131Ter) c.514G>T (p.Glu172Ter) | |
16 | g.30986492A>C | CA395640279 | HSD3B7 | c.392A>C (p.Glu131Ala) c.515A>C (p.Glu172Ala) | |
16 | g.30986492A>G | CA395640280 | HSD3B7 | c.392A>G (p.Glu131Gly) c.515A>G (p.Glu172Gly) | |
16 | g.30986492A>T | CA395640281 | HSD3B7 | c.392A>T (p.Glu131Val) c.515A>T (p.Glu172Val) | |
16 | g.30986493A>C | CA395640282 | HSD3B7 | c.393A>C (p.Glu131Asp) c.516A>C (p.Glu172Asp) | |
16 | g.30986493A>G | CA494920594 | HSD3B7 | c.393A>G (p.Glu131=) c.516A>G (p.Glu172=) | |
16 | g.30986493A>T | CA395640283 | HSD3B7 | c.393A>T (p.Glu131Asp) c.516A>T (p.Glu172Asp) | |
16 | g.30986494G>A | CA395640284 | HSD3B7 | c.394G>A (p.Val132Ile) c.517G>A (p.Val173Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986494G>C | CA395640285 | HSD3B7 | c.394G>C (p.Val132Leu) c.517G>C (p.Val173Leu) | |
16 | g.30986494G= | CA2216821940 | HSD3B7 | c.394G= (p.Val132=) c.517G= (p.Val173=) | |
16 | g.30986494G>T | CA395640286 | HSD3B7 | c.394G>T (p.Val132Phe) c.517G>T (p.Val173Phe) | |
16 | g.30986495T>A | CA395640287 | HSD3B7 | c.395T>A (p.Val132Asp) c.518T>A (p.Val173Asp) | |
16 | g.30986495T>C | CA395640288 | HSD3B7 | c.395T>C (p.Val132Ala) c.518T>C (p.Val173Ala) | |
16 | g.30986495T>G | CA395640289 | HSD3B7 | c.395T>G (p.Val132Gly) c.518T>G (p.Val173Gly) | |
16 | g.30986496T>A | CA494920600 | HSD3B7 | c.396T>A (p.Val132=) c.519T>A (p.Val173=) | |
16 | g.30986496T>C | CA494920601 | HSD3B7 | c.396T>C (p.Val132=) c.519T>C (p.Val173=) | |
16 | g.30986496T>G | CA494920603 | HSD3B7 | c.396T>G (p.Val132=) c.519T>G (p.Val173=) | |
16 | g.30986497G>A | CA395640290 | HSD3B7 | c.397G>A (p.Val133Met) c.520G>A (p.Val174Met) | ClinVar gnomAD v4 |
16 | g.30986497G>C | CA395640291 | HSD3B7 | c.397G>C (p.Val133Leu) c.520G>C (p.Val174Leu) | |
16 | g.30986497G= | CA2216821945 | HSD3B7 | c.397G= (p.Val133=) c.520G= (p.Val174=) | |
16 | g.30986497G>T | CA8017982 | HSD3B7 | c.397G>T (p.Val133Leu) c.520G>T (p.Val174Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986498T>A | CA395640292 | HSD3B7 | c.398T>A (p.Val133Glu) c.521T>A (p.Val174Glu) | |
16 | g.30986498T>C | CA395640294 | HSD3B7 | c.398T>C (p.Val133Ala) c.521T>C (p.Val174Ala) | |
16 | g.30986498T>G | CA395640293 | HSD3B7 | c.398T>G (p.Val133Gly) c.521T>G (p.Val174Gly) | |
16 | g.30986499G>A | CA494920608 | HSD3B7 | c.399G>A (p.Val133=) c.522G>A (p.Val174=) | |
16 | g.30986499G>C | CA494920609 | HSD3B7 | c.399G>C (p.Val133=) c.522G>C (p.Val174=) | |
16 | g.30986499G>T | CA494920610 | HSD3B7 | c.399G>T (p.Val133=) c.522G>T (p.Val174=) | |
16 | g.30986502dup | CA2695223277 | HSD3B7 | c.402dup (p.Pro135AlafsTer2) c.525dup (p.Pro176AlafsTer2) | |
16 | g.30986500G>A | CA280561913 | HSD3B7 | c.400G>A (p.Gly134Arg) c.523G>A (p.Gly175Arg) | dbSNP gnomAD v4 |
16 | g.30986500G>C | CA395640295 | HSD3B7 | c.400G>C (p.Gly134Arg) c.523G>C (p.Gly175Arg) | |
16 | g.30986500G= | CA2216821953 | HSD3B7 | c.400G= (p.Gly134=) c.523G= (p.Gly175=) | |
16 | g.30986500G>T | CA395640296 | HSD3B7 | c.400G>T (p.Gly134Trp) c.523G>T (p.Gly175Trp) | |
16 | g.30986501G>A | CA395640297 | HSD3B7 | c.401G>A (p.Gly134Glu) c.524G>A (p.Gly175Glu) | |
16 | g.30986501G>C | CA395640298 | HSD3B7 | c.401G>C (p.Gly134Ala) c.524G>C (p.Gly175Ala) | |
16 | g.30986501G>T | CA395640299 | HSD3B7 | c.401G>T (p.Gly134Val) c.524G>T (p.Gly175Val) | |
16 | g.30986502G>A | CA494920612 | HSD3B7 | c.402G>A (p.Gly134=) c.525G>A (p.Gly175=) | |
16 | g.30986502G>C | CA494920613 | HSD3B7 | c.402G>C (p.Gly134=) c.525G>C (p.Gly175=) | |
16 | g.30986502G>T | CA494920614 | HSD3B7 | c.402G>T (p.Gly134=) c.525G>T (p.Gly175=) | |
16 | g.30986503C>A | CA395640300 | HSD3B7 | c.403C>A (p.Pro135Thr) c.526C>A (p.Pro176Thr) | |
16 | g.30986503C>G | CA395640301 | HSD3B7 | c.403C>G (p.Pro135Ala) c.526C>G (p.Pro176Ala) | |
16 | g.30986503C>T | CA395640302 | HSD3B7 | c.403C>T (p.Pro135Ser) c.526C>T (p.Pro176Ser) | |
16 | g.30986504C>A | CA395640303 | HSD3B7 | c.404C>A (p.Pro135His) c.527C>A (p.Pro176His) | |
16 | g.30986504C>G | CA395640304 | HSD3B7 | c.404C>G (p.Pro135Arg) c.527C>G (p.Pro176Arg) | |
16 | g.30986504C>T | CA395640305 | HSD3B7 | c.404C>T (p.Pro135Leu) c.527C>T (p.Pro176Leu) | |
16 | g.30986505T>A | CA494920618 | HSD3B7 | c.405T>A (p.Pro135=) c.528T>A (p.Pro176=) | |
16 | g.30986505T>C | CA494920620 | HSD3B7 | c.405T>C (p.Pro135=) c.528T>C (p.Pro176=) | |
16 | g.30986505T>G | CA494920619 | HSD3B7 | c.405T>G (p.Pro135=) c.528T>G (p.Pro176=) | |
16 | g.30986506A>C | CA395640308 | HSD3B7 | c.406A>C (p.Asn136His) c.529A>C (p.Asn177His) | |
16 | g.30986506A>G | CA395640306 | HSD3B7 | c.406A>G (p.Asn136Asp) c.529A>G (p.Asn177Asp) | |
16 | g.30986506A>T | CA395640307 | HSD3B7 | c.406A>T (p.Asn136Tyr) c.529A>T (p.Asn177Tyr) | |
16 | g.30986507A= | CA2216821958 | HSD3B7 | c.407A= (p.Asn136=) c.530A= (p.Asn177=) | |
16 | g.30986507A>C | CA395640309 | HSD3B7 | c.407A>C (p.Asn136Thr) c.530A>C (p.Asn177Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986507A>G | CA395640310 | HSD3B7 | c.407A>G (p.Asn136Ser) c.530A>G (p.Asn177Ser) | |
16 | g.30986507A>T | CA395640311 | HSD3B7 | c.407A>T (p.Asn136Ile) c.530A>T (p.Asn177Ile) | |
16 | g.30986508C>A | CA395640312 | HSD3B7 | c.408C>A (p.Asn136Lys) c.531C>A (p.Asn177Lys) | |
16 | g.30986508C= | CA2216821963 | HSD3B7 | c.408C= (p.Asn136=) c.531C= (p.Asn177=) | |
16 | g.30986508C>G | CA395640313 | HSD3B7 | c.408C>G (p.Asn136Lys) c.531C>G (p.Asn177Lys) | |
16 | g.30986508C>T | CA494920625 | HSD3B7 | c.408C>T (p.Asn136=) c.531C>T (p.Asn177=) | dbSNP |
16 | g.30986509A>C | CA395640314 | HSD3B7 | c.409A>C (p.Thr137Pro) c.532A>C (p.Thr178Pro) | |
16 | g.30986509A>G | CA395640315 | HSD3B7 | c.409A>G (p.Thr137Ala) c.532A>G (p.Thr178Ala) | |
16 | g.30986509A>T | CA395640316 | HSD3B7 | c.409A>T (p.Thr137Ser) c.532A>T (p.Thr178Ser) | |
16 | g.30986510C>A | CA395640317 | HSD3B7 | c.410C>A (p.Thr137Asn) c.533C>A (p.Thr178Asn) | |
16 | g.30986510C= | CA2216821968 | HSD3B7 | c.410C= (p.Thr137=) c.533C= (p.Thr178=) | |
16 | g.30986510C>G | CA395640318 | HSD3B7 | c.410C>G (p.Thr137Ser) c.533C>G (p.Thr178Ser) | |
16 | g.30986510C>T | CA8017983 | HSD3B7 | c.410C>T (p.Thr137Ile) c.533C>T (p.Thr178Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986511C>A | CA494920627 | HSD3B7 | c.411C>A (p.Thr137=) c.534C>A (p.Thr178=) | gnomAD v4 |
16 | g.30986511C= | CA2216821974 | HSD3B7 | c.411C= (p.Thr137=) c.534C= (p.Thr178=) | |
16 | g.30986511C>G | CA494920628 | HSD3B7 | c.411C>G (p.Thr137=) c.534C>G (p.Thr178=) | gnomAD v4 |
16 | g.30986511C>T | CA494920629 | HSD3B7 | c.411C>T (p.Thr137=) c.534C>T (p.Thr178=) | |
16 | g.30986512A>C | CA395640321 | HSD3B7 | c.412A>C (p.Lys138Gln) c.535A>C (p.Lys179Gln) | |
16 | g.30986512A>G | CA395640320 | HSD3B7 | c.412A>G (p.Lys138Glu) c.535A>G (p.Lys179Glu) | |
16 | g.30986512A>T | CA395640319 | HSD3B7 | c.412A>T (p.Lys138Ter) c.535A>T (p.Lys179Ter) | |
16 | g.30986512_30986513insCCTTCTA | CA719897694 | HSD3B7 | c.412_413insCCTTCTA (p.Lys138ThrfsTer3) c.535_536insCCTTCTA (p.Lys179ThrfsTer3) | dbSNP |
16 | g.30986514del | CA2575973590 | HSD3B7 | c.414del (p.Gly139ValfsTer?) c.537del (p.Gly180ValfsTer?) | |
16 | g.30986513A= | CA2216821981 | HSD3B7 | c.413A= (p.Lys138=) c.536A= (p.Lys179=) | |
16 | g.30986513A>C | CA395640322 | HSD3B7 | c.413A>C (p.Lys138Thr) c.536A>C (p.Lys179Thr) | dbSNP |
16 | g.30986513A>G | CA395640323 | HSD3B7 | c.413A>G (p.Lys138Arg) c.536A>G (p.Lys179Arg) | |
16 | g.30986513A>T | CA395640325 | HSD3B7 | c.413A>T (p.Lys138Ile) c.536A>T (p.Lys179Ile) | |
16 | g.30986514A>C | CA395640327 | HSD3B7 | c.414A>C (p.Lys138Asn) c.537A>C (p.Lys179Asn) | |
16 | g.30986514A>G | CA494920633 | HSD3B7 | c.414A>G (p.Lys138=) c.537A>G (p.Lys179=) | |
16 | g.30986514A>T | CA395640328 | HSD3B7 | c.414A>T (p.Lys138Asn) c.537A>T (p.Lys179Asn) | |
16 | g.30986515G>A | CA8017984 | HSD3B7 | c.415G>A (p.Gly139Ser) c.538G>A (p.Gly180Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986515G>C | CA395640330 | HSD3B7 | c.415G>C (p.Gly139Arg) c.538G>C (p.Gly180Arg) | |
16 | g.30986515G= | CA2216821985 | HSD3B7 | c.415G= (p.Gly139=) c.538G= (p.Gly180=) | |
16 | g.30986515G>T | CA395640332 | HSD3B7 | c.415G>T (p.Gly139Cys) c.538G>T (p.Gly180Cys) | |
16 | g.30986516G>A | CA395640334 | HSD3B7 | c.416G>A (p.Gly139Asp) c.539G>A (p.Gly180Asp) | |
16 | g.30986516G>C | CA395640335 | HSD3B7 | c.416G>C (p.Gly139Ala) c.539G>C (p.Gly180Ala) | |
16 | g.30986516G>T | CA395640336 | HSD3B7 | c.416G>T (p.Gly139Val) c.539G>T (p.Gly180Val) | |
16 | g.30986517T>A | CA494920637 | HSD3B7 | c.417T>A (p.Gly139=) c.540T>A (p.Gly180=) | |
16 | g.30986517T>C | CA494920638 | HSD3B7 | c.417T>C (p.Gly139=) c.540T>C (p.Gly180=) | gnomAD v4 |
16 | g.30986517T>G | CA8017985 | HSD3B7 | c.417T>G (p.Gly139=) c.540T>G (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986517T= | CA2216821995 | HSD3B7 | c.417T= (p.Gly139=) c.540T= (p.Gly180=) | |
16 | g.30986518C>A | CA395640342 | HSD3B7 | c.418C>A (p.His140Asn) c.541C>A (p.His181Asn) | |
16 | g.30986518C>G | CA395640340 | HSD3B7 | c.418C>G (p.His140Asp) c.541C>G (p.His181Asp) | |
16 | g.30986518C>T | CA395640338 | HSD3B7 | c.418C>T (p.His140Tyr) c.541C>T (p.His181Tyr) | |
16 | g.30986519A= | CA2216821999 | HSD3B7 | c.419A= (p.His140=) c.542A= (p.His181=) | |
16 | g.30986519A>C | CA395640343 | HSD3B7 | c.419A>C (p.His140Pro) c.542A>C (p.His181Pro) | |
16 | g.30986519A>G | CA395640345 | HSD3B7 | c.419A>G (p.His140Arg) c.542A>G (p.His181Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.30986519A>T | CA395640347 | HSD3B7 | c.419A>T (p.His140Leu) c.542A>T (p.His181Leu) | |
16 | g.30986520C>A | CA395640349 | HSD3B7 | c.420C>A (p.His140Gln) c.543C>A (p.His181Gln) | |
16 | g.30986520C= | CA2216822003 | HSD3B7 | c.420C= (p.His140=) c.543C= (p.His181=) | |
16 | g.30986520C>G | CA395640350 | HSD3B7 | c.420C>G (p.His140Gln) c.543C>G (p.His181Gln) | |
16 | g.30986520C>T | CA494920641 | HSD3B7 | c.420C>T (p.His140=) c.543C>T (p.His181=) | dbSNP gnomAD v4 |
16 | g.30986521C>A | CA395640351 | HSD3B7 | c.421C>A (p.Pro141Thr) c.544C>A (p.Pro182Thr) | |
16 | g.30986521C>G | CA395640352 | HSD3B7 | c.421C>G (p.Pro141Ala) c.544C>G (p.Pro182Ala) | |
16 | g.30986521C>T | CA395640354 | HSD3B7 | c.421C>T (p.Pro141Ser) c.544C>T (p.Pro182Ser) | gnomAD v4 COSMIC |
16 | g.30986522C>A | CA395640356 | HSD3B7 | c.422C>A (p.Pro141His) c.545C>A (p.Pro182His) | |
16 | g.30986522C>G | CA395640358 | HSD3B7 | c.422C>G (p.Pro141Arg) c.545C>G (p.Pro182Arg) | |
16 | g.30986522C>T | CA395640359 | HSD3B7 | c.422C>T (p.Pro141Leu) c.545C>T (p.Pro182Leu) | |
16 | g.30986523C>A | CA8017986 | HSD3B7 | c.423C>A (p.Pro141=) c.546C>A (p.Pro182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986523C= | CA2216822009 | HSD3B7 | c.423C= (p.Pro141=) c.546C= (p.Pro182=) | |
16 | g.30986523C>G | CA494920643 | HSD3B7 | c.423C>G (p.Pro141=) c.546C>G (p.Pro182=) | |
16 | g.30986523C>T | CA494920645 | HSD3B7 | c.423C>T (p.Pro141=) c.546C>T (p.Pro182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986524T>A | CA395640362 | HSD3B7 | c.424T>A (p.Phe142Ile) c.547T>A (p.Phe183Ile) | |
16 | g.30986524T>C | CA395640364 | HSD3B7 | c.424T>C (p.Phe142Leu) c.547T>C (p.Phe183Leu) | |
16 | g.30986524T>G | CA395640363 | HSD3B7 | c.424T>G (p.Phe142Val) c.547T>G (p.Phe183Val) | |
16 | g.30986525T>A | CA395640366 | HSD3B7 | c.425T>A (p.Phe142Tyr) c.548T>A (p.Phe183Tyr) | |
16 | g.30986525T>C | CA395640369 | HSD3B7 | c.425T>C (p.Phe142Ser) c.548T>C (p.Phe183Ser) | |
16 | g.30986525T>G | CA395640368 | HSD3B7 | c.425T>G (p.Phe142Cys) c.548T>G (p.Phe183Cys) | |
16 | g.30986526C>A | CA395640371 | HSD3B7 | c.426C>A (p.Phe142Leu) c.549C>A (p.Phe183Leu) | |
16 | g.30986526C= | CA2216822018 | HSD3B7 | c.426C= (p.Phe142=) c.549C= (p.Phe183=) | |
16 | g.30986526C>G | CA395640374 | HSD3B7 | c.426C>G (p.Phe142Leu) c.549C>G (p.Phe183Leu) | |
16 | g.30986526C>T | CA280561940 | HSD3B7 | c.426C>T (p.Phe142=) c.549C>T (p.Phe183=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986527T>A | CA395640376 | HSD3B7 | c.427T>A (p.Tyr143Asn) c.550T>A (p.Tyr184Asn) | |
16 | g.30986527T>C | CA395640379 | HSD3B7 | c.427T>C (p.Tyr143His) c.550T>C (p.Tyr184His) | |
16 | g.30986527T>G | CA395640378 | HSD3B7 | c.427T>G (p.Tyr143Asp) c.550T>G (p.Tyr184Asp) | |
16 | g.30986528A>C | CA395640381 | HSD3B7 | c.428A>C (p.Tyr143Ser) c.551A>C (p.Tyr184Ser) | |
16 | g.30986528A>G | CA395640383 | HSD3B7 | c.428A>G (p.Tyr143Cys) c.551A>G (p.Tyr184Cys) | gnomAD v4 |
16 | g.30986528A>T | CA395640385 | HSD3B7 | c.428A>T (p.Tyr143Phe) c.551A>T (p.Tyr184Phe) | |
16 | g.30986529C>A | CA395640386 | HSD3B7 | c.429C>A (p.Tyr143Ter) c.552C>A (p.Tyr184Ter) | |
16 | g.30986529C= | CA2216822024 | HSD3B7 | c.429C= (p.Tyr143=) c.552C= (p.Tyr184=) | |
16 | g.30986529C>G | CA395640388 | HSD3B7 | c.429C>G (p.Tyr143Ter) c.552C>G (p.Tyr184Ter) | |
16 | g.30986529C>T | CA494920649 | HSD3B7 | c.429C>T (p.Tyr143=) c.552C>T (p.Tyr184=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986530A>C | CA494920651 | HSD3B7 | c.430A>C (p.Arg144=) c.553A>C (p.Arg185=) | |
16 | g.30986530A>G | CA395640390 | HSD3B7 | c.430A>G (p.Arg144Gly) c.553A>G (p.Arg185Gly) | gnomAD v4 |
16 | g.30986530A>T | CA395640392 | HSD3B7 | c.430A>T (p.Arg144Trp) c.553A>T (p.Arg185Trp) | |
16 | g.30986531G>A | CA395640394 | HSD3B7 | c.431G>A (p.Arg144Lys) c.554G>A (p.Arg185Lys) | |
16 | g.30986531G>C | CA395640396 | HSD3B7 | c.431G>C (p.Arg144Thr) c.554G>C (p.Arg185Thr) | gnomAD v4 |
16 | g.30986531G>T | CA395640397 | HSD3B7 | c.431G>T (p.Arg144Met) c.554G>T (p.Arg185Met) | |
16 | g.30986532G>A | CA395640403 | HSD3B7 | c.431+1G>A (n.431+1G>A) c.554+1G>A (n.554+1G>A) | gnomAD v4 |
16 | g.30986532G>C | CA395640401 | HSD3B7 | c.431+1G>C (n.431+1G>C) c.554+1G>C (n.554+1G>C) | |
16 | g.30986532G>T | CA395640399 | HSD3B7 | c.431+1G>T (n.431+1G>T) c.554+1G>T (n.554+1G>T) | |
16 | g.30986533T>A | CA395640404 | HSD3B7 | c.431+2T>A (n.431+2T>A) c.554+2T>A (n.554+2T>A) | |
16 | g.30986533T>C | CA395640406 | HSD3B7 | c.431+2T>C (n.431+2T>C) c.554+2T>C (n.554+2T>C) | ClinVar |
16 | g.30986533T>G | CA395640408 | HSD3B7 | c.431+2T>G (n.431+2T>G) c.554+2T>G (n.554+2T>G) | |
16 | g.30986533dup | CA2695223278 | HSD3B7 | c.431+2dup (n.431+2dup) c.554+2dup (n.554+2dup) | |
16 | g.30986534G>A | CA280561943 | HSD3B7 | c.431+3G>A (n.431+3G>A) c.554+3G>A (n.554+3G>A) | dbSNP |
16 | g.30986534G= | CA2216822029 | HSD3B7 | c.431+3G= (n.431+3G=) c.554+3G= (n.554+3G=) | |
16 | g.30986535_30986536del | CA2575973591 | HSD3B7 | c.431+4_431+5del (n.431+4_431+5del) c.554+4_554+5del (n.554+4_554+5del) | |
16 | g.30986535A= | CA2216822036 | HSD3B7 | c.431+4A= (n.431+4A=) c.554+4A= (n.554+4A=) | |
16 | g.30986535A>G | CA622171154 | HSD3B7 | c.431+4A>G (n.431+4A>G) c.554+4A>G (n.554+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986535A>T | CA2632803631 | HSD3B7 | c.431+4A>T (n.431+4A>T) c.554+4A>T (n.554+4A>T) | gnomAD v4 |
16 | g.30986536G>A | CA622171155 | HSD3B7 | c.431+5G>A (n.431+5G>A) c.554+5G>A (n.554+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986536G= | CA2216822039 | HSD3B7 | c.431+5G= (n.431+5G=) c.554+5G= (n.554+5G=) | |
16 | g.30986537T>C | CA2216822042 | HSD3B7 | c.431+6T>C (n.431+6T>C) c.554+6T>C (n.554+6T>C) | dbSNP |
16 | g.30986537T= | CA2216822041 | HSD3B7 | c.431+6T= (n.431+6T=) c.554+6T= (n.554+6T=) | |
16 | g.30986538G>A | CA2632803634 | HSD3B7 | c.431+7G>A (n.431+7G>A) c.554+7G>A (n.554+7G>A) | gnomAD v4 |
16 | g.30986538G= | CA2216822044 | HSD3B7 | c.431+7G= (n.431+7G=) c.554+7G= (n.554+7G=) | |
16 | g.30986538_30986539insA | CA622171156 | HSD3B7 | c.431+7_431+8insA (n.431+7_431+8insA) c.554+7_554+8insA (n.554+7_554+8insA) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986543G>A | CA622171157 | HSD3B7 | c.431+12G>A (n.431+12G>A) c.554+12G>A (n.554+12G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986543G= | CA2216822056 | HSD3B7 | c.431+12G= (n.431+12G=) c.554+12G= (n.554+12G=) | |
16 | g.30986543G>T | CA2632803640 | HSD3B7 | c.431+12G>T (n.431+12G>T) c.554+12G>T (n.554+12G>T) | gnomAD v4 |
16 | g.30986544C= | CA2216822062 | HSD3B7 | c.431+13C= (n.431+13C=) c.554+13C= (n.554+13C=) | |
16 | g.30986544C>G | CA622171158 | HSD3B7 | c.431+13C>G (n.431+13C>G) c.554+13C>G (n.554+13C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986544C>T | CA622171159 | HSD3B7 | c.431+13C>T (n.431+13C>T) c.554+13C>T (n.554+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986545C>A | CA8017987 | HSD3B7 | c.431+14C>A (n.431+14C>A) c.554+14C>A (n.554+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986545C= | CA2216822064 | HSD3B7 | c.431+14C= (n.431+14C=) c.554+14C= (n.554+14C=) | |
16 | g.30986545C>T | CA2216822067 | HSD3B7 | c.431+14C>T (n.431+14C>T) c.554+14C>T (n.554+14C>T) | dbSNP gnomAD v4 |
16 | g.30986546C>T | CA2632803650 | HSD3B7 | c.431+15C>T (n.431+15C>T) c.554+15C>T (n.554+15C>T) | gnomAD v4 |
16 | g.30986547T>G | CA622171160 | HSD3B7 | c.431+16T>G (n.431+16T>G) c.554+16T>G (n.554+16T>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986547T= | CA2216822068 | HSD3B7 | c.431+16T= (n.431+16T=) c.554+16T= (n.554+16T=) | |
16 | g.30986548C= | CA2216822074 | HSD3B7 | c.431+17C= (n.431+17C=) c.554+17C= (n.554+17C=) | |
16 | g.30986548C>T | CA8017988 | HSD3B7 | c.431+17C>T (n.431+17C>T) c.554+17C>T (n.554+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986549T>C | CA622171161 | HSD3B7 | c.431+18T>C (n.431+18T>C) c.554+18T>C (n.554+18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986549T= | CA2216822080 | HSD3B7 | c.431+18T= (n.431+18T=) c.554+18T= (n.554+18T=) | |
16 | g.30986554C= | CA2216822085 | HSD3B7 | c.431+23C= (n.431+23C=) c.554+23C= (n.554+23C=) | |
16 | g.30986554C>T | CA719897775 | HSD3B7 | c.431+23C>T (n.431+23C>T) c.554+23C>T (n.554+23C>T) | dbSNP |
16 | g.30986556C= | CA2216822090 | HSD3B7 | c.431+25C= (n.431+25C=) c.554+25C= (n.554+25C=) | |
16 | g.30986556C>G | CA2632803656 | HSD3B7 | c.431+25C>G (n.431+25C>G) c.554+25C>G (n.554+25C>G) | gnomAD v4 |
16 | g.30986556C>T | CA8017990 | HSD3B7 | c.431+25C>T (n.431+25C>T) c.554+25C>T (n.554+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986556_30986560delinsCTAAG | CA2216822088 | HSD3B7 | c.431+25_431+29delinsCTAAG (n.431+25_431+29delinsCTAAG) c.554+25_554+29delinsCTAAG (n.554+25_554+29delinsCTAAG) | |
16 | g.30986557T>C | CA719897777 | HSD3B7 | c.431+26T>C (n.431+26T>C) c.554+26T>C (n.554+26T>C) | dbSNP |
16 | g.30986557T= | CA2216822100 | HSD3B7 | c.431+26T= (n.431+26T=) c.554+26T= (n.554+26T=) | |
16 | g.30986557dup | CA8017989 | HSD3B7 | c.431+26dup (n.431+26dup) c.554+26dup (n.554+26dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986557_30986560del | CA622171162 | HSD3B7 | c.431+26_431+29del (n.431+26_431+29del) c.554+26_554+29del (n.554+26_554+29del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986558A>G | CA2575973592 | HSD3B7 | c.431+27A>G (n.431+27A>G) c.554+27A>G (n.554+27A>G) | |
16 | g.30986562G>A | CA2575973593 | HSD3B7 | c.431+31G>A (n.431+31G>A) c.554+31G>A (n.554+31G>A) | |
16 | g.30986563C= | CA2216822103 | HSD3B7 | c.431+32C= (n.431+32C=) c.554+32C= (n.554+32C=) | |
16 | g.30986563C>G | CA622171163 | HSD3B7 | c.431+32C>G (n.431+32C>G) c.554+32C>G (n.554+32C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986563C>T | CA2632803672 | HSD3B7 | c.431+32C>T (n.431+32C>T) c.554+32C>T (n.554+32C>T) | gnomAD v4 |
16 | g.30986564C= | CA2216822107 | HSD3B7 | c.431+33C= (n.431+33C=) c.554+33C= (n.554+33C=) | |
16 | g.30986564C>G | CA8017991 | HSD3B7 | c.431+33C>G (n.431+33C>G) c.554+33C>G (n.554+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986565C= | CA2216822111 | HSD3B7 | c.431+34C= (n.431+34C=) c.554+34C= (n.554+34C=) | |
16 | g.30986565C>G | CA622171164 | HSD3B7 | c.431+34C>G (n.431+34C>G) c.554+34C>G (n.554+34C>G) | dbSNP gnomAD v2 |
16 | g.30986566A>G | CA2575973594 | HSD3B7 | c.431+35A>G (n.431+35A>G) c.554+35A>G (n.554+35A>G) | |
16 | g.30986571C>A | CA2575973595 | HSD3B7 | c.432-34C>A (n.432-34C>A) c.555-34C>A (n.555-34C>A) | |
16 | g.30986572C= | CA2216822113 | HSD3B7 | c.432-33C= (n.432-33C=) c.555-33C= (n.555-33C=) | |
16 | g.30986572C>T | CA2216822114 | HSD3B7 | c.432-33C>T (n.432-33C>T) c.555-33C>T (n.555-33C>T) | dbSNP gnomAD v4 |
16 | g.30986574C>T | CA2632803679 | HSD3B7 | c.432-31C>T (n.432-31C>T) c.555-31C>T (n.555-31C>T) | gnomAD v4 |
16 | g.30986575A>G | CA2632803681 | HSD3B7 | c.432-30A>G (n.432-30A>G) c.555-30A>G (n.555-30A>G) | gnomAD v4 |
16 | g.30986576del | CA2806494006 | HSD3B7 | c.432-29del (n.432-29del) c.555-29del (n.555-29del) | |
16 | g.30986577C= | CA2216822116 | HSD3B7 | c.432-28C= (n.432-28C=) c.555-28C= (n.555-28C=) | |
16 | g.30986577C>T | CA8017992 | HSD3B7 | c.432-28C>T (n.432-28C>T) c.555-28C>T (n.555-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986581G>A | CA8017993 | HSD3B7 | c.432-24G>A (n.432-24G>A) c.555-24G>A (n.555-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986581G= | CA2216822117 | HSD3B7 | c.432-24G= (n.432-24G=) c.555-24G= (n.555-24G=) | |
16 | g.30986582_30986583del | CA2632803683 | HSD3B7 | c.432-23_432-22del (n.432-23_432-22del) c.555-23_555-22del (n.555-23_555-22del) | gnomAD v4 |
16 | g.30986584T>C | CA622171166 | HSD3B7 | c.432-21T>C (n.432-21T>C) c.555-21T>C (n.555-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986584T= | CA2216822120 | HSD3B7 | c.432-21T= (n.432-21T=) c.555-21T= (n.555-21T=) | |
16 | g.30986584_30986588delinsTCTTC | CA2216822123 | HSD3B7 | c.432-21_432-17delinsTCTTC (n.432-21_432-17delinsTCTTC) c.555-21_555-17delinsTCTTC (n.555-21_555-17delinsTCTTC) | |
16 | g.30986585C= | CA2216822129 | HSD3B7 | c.432-20C= (n.432-20C=) c.555-20C= (n.555-20C=) | |
16 | g.30986585C>T | CA719897782 | HSD3B7 | c.432-20C>T (n.432-20C>T) c.555-20C>T (n.555-20C>T) | dbSNP gnomAD v4 |
16 | g.30986589_30986592del | CA8017994 | HSD3B7 | c.432-16_432-13del (n.432-16_432-13del) c.555-16_555-13del (n.555-16_555-13del) | dbSNP ExAC gnomAD v3 gnomAD v4 |