Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30987767G>A | CA395642119 | HSD3B7 | c.695-1G>A (n.695-1G>A) c.532-1G>A (n.532-1G>A) | gnomAD v4 |
16 | g.30987767G>C | CA395642122 | HSD3B7 | c.695-1G>C (n.695-1G>C) c.532-1G>C (n.532-1G>C) | |
16 | g.30987767G>T | CA395642124 | HSD3B7 | c.695-1G>T (n.695-1G>T) c.532-1G>T (n.532-1G>T) | |
16 | g.30987768G>A | CA395642129 | HSD3B7 | c.695G>A (p.Gly232Asp) c.532G>A (p.Ala178Thr) | gnomAD v4 |
16 | g.30987768G>C | CA395642130 | HSD3B7 | c.695G>C (p.Gly232Ala) c.532G>C (p.Ala178Pro) | |
16 | g.30987768G= | CA2216824905 | HSD3B7 | c.695G= (p.Gly232=) c.532G= (p.Ala178=) | |
16 | g.30987768G>T | CA395642133 | HSD3B7 | c.695G>T (p.Gly232Val) c.532G>T (p.Ala178Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987769C>A | CA395642138 | HSD3B7 | c.696C>A (p.Gly232=) c.533C>A (p.Ala178Glu) | |
16 | g.30987769C>G | CA395642140 | HSD3B7 | c.696C>G (p.Gly232=) c.533C>G (p.Ala178Gly) | gnomAD v4 |
16 | g.30987769C>T | CA395642143 | HSD3B7 | c.696C>T (p.Gly232=) c.533C>T (p.Ala178Val) | |
16 | g.30987770A= | CA2216824913 | HSD3B7 | c.697A= (p.Asn233=) c.534A= (p.Ala178=) | |
16 | g.30987770A>C | CA395642144 | HSD3B7 | c.697A>C (p.Asn233His) c.534A>C (p.Ala178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987770A>G | CA395642146 | HSD3B7 | c.697A>G (p.Asn233Asp) c.534A>G (p.Ala178=) | dbSNP |
16 | g.30987770A>T | CA395642149 | HSD3B7 | c.697A>T (p.Asn233Tyr) c.534A>T (p.Ala178=) | |
16 | g.30987771A= | CA2216824920 | HSD3B7 | c.698A= (p.Asn233=) c.535A= (p.Met179=) | |
16 | g.30987771A>C | CA395642156 | HSD3B7 | c.698A>C (p.Asn233Thr) c.535A>C (p.Met179Leu) | |
16 | g.30987771A>G | CA395642151 | HSD3B7 | c.698A>G (p.Asn233Ser) c.535A>G (p.Met179Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987771A>T | CA395642154 | HSD3B7 | c.698A>T (p.Asn233Ile) c.535A>T (p.Met179Leu) | dbSNP gnomAD v2 |
16 | g.30987772T>A | CA395642159 | HSD3B7 | c.699T>A (p.Asn233Lys) c.536T>A (p.Met179Lys) | |
16 | g.30987772T>C | CA395642160 | HSD3B7 | c.699T>C (p.Asn233=) c.536T>C (p.Met179Thr) | gnomAD v4 |
16 | g.30987772T>G | CA395642162 | HSD3B7 | c.699T>G (p.Asn233Lys) c.536T>G (p.Met179Arg) | |
16 | g.30987773G>A | CA395642166 | HSD3B7 | c.700G>A (p.Val234Ile) c.537G>A (p.Met179Ile) | |
16 | g.30987773G>C | CA395642169 | HSD3B7 | c.700G>C (p.Val234Leu) c.537G>C (p.Met179Ile) | |
16 | g.30987773G>T | CA395642172 | HSD3B7 | c.700G>T (p.Val234Phe) c.537G>T (p.Met179Ile) | |
16 | g.30987774T>A | CA395642177 | HSD3B7 | c.701T>A (p.Val234Asp) c.538T>A (p.Leu180Met) | |
16 | g.30987774T>C | CA395642179 | HSD3B7 | c.701T>C (p.Val234Ala) c.538T>C (p.Leu180=) | |
16 | g.30987774T>G | CA395642180 | HSD3B7 | c.701T>G (p.Val234Gly) c.538T>G (p.Leu180Val) | |
16 | g.30987775T>A | CA395642184 | HSD3B7 | c.702T>A (p.Val234=) c.539T>A (p.Leu180Ter) | |
16 | g.30987775T>C | CA395642187 | HSD3B7 | c.702T>C (p.Val234=) c.539T>C (p.Leu180Ser) | gnomAD v4 |
16 | g.30987775T>G | CA395642191 | HSD3B7 | c.702T>G (p.Val234=) c.539T>G (p.Leu180Trp) | gnomAD v4 |
16 | g.30987776G>A | CA395642198 | HSD3B7 | c.703G>A (p.Ala235Thr) c.540G>A (p.Leu180=) | |
16 | g.30987776G>C | CA395642201 | HSD3B7 | c.703G>C (p.Ala235Pro) c.540G>C (p.Leu180Phe) | |
16 | g.30987776G>T | CA395642196 | HSD3B7 | c.703G>T (p.Ala235Ser) c.540G>T (p.Leu180Phe) | |
16 | g.30987777C>A | CA395642205 | HSD3B7 | c.704C>A (p.Ala235Asp) c.541C>A (p.Pro181Thr) | gnomAD v4 |
16 | g.30987777C>G | CA395642209 | HSD3B7 | c.704C>G (p.Ala235Gly) c.541C>G (p.Pro181Ala) | |
16 | g.30987777C>T | CA395642207 | HSD3B7 | c.704C>T (p.Ala235Val) c.541C>T (p.Pro181Ser) | gnomAD v4 |
16 | g.30987778C>A | CA395642211 | HSD3B7 | c.705C>A (p.Ala235=) c.542C>A (p.Pro181His) | |
16 | g.30987778C>G | CA395642214 | HSD3B7 | c.705C>G (p.Ala235=) c.542C>G (p.Pro181Arg) | |
16 | g.30987778C>T | CA395642212 | HSD3B7 | c.705C>T (p.Ala235=) c.542C>T (p.Pro181Leu) | gnomAD v4 |
16 | g.30987779T>A | CA395642216 | HSD3B7 | c.706T>A (p.Trp236Arg) c.543T>A (p.Pro181=) | |
16 | g.30987779T>C | CA395642221 | HSD3B7 | c.706T>C (p.Trp236Arg) c.543T>C (p.Pro181=) | |
16 | g.30987779T>G | CA395642219 | HSD3B7 | c.706T>G (p.Trp236Gly) c.543T>G (p.Pro181=) | |
16 | g.30987780G>A | CA395642225 | HSD3B7 | c.707G>A (p.Trp236Ter) c.544G>A (p.Gly182Arg) | |
16 | g.30987780G>C | CA395642229 | HSD3B7 | c.707G>C (p.Trp236Ser) c.544G>C (p.Gly182Arg) | |
16 | g.30987780G>T | CA395642226 | HSD3B7 | c.707G>T (p.Trp236Leu) c.544G>T (p.Gly182Ter) | |
16 | g.30987781G>A | CA395642232 | HSD3B7 | c.708G>A (p.Trp236Ter) c.545G>A (p.Gly182Glu) | |
16 | g.30987781G>C | CA395642235 | HSD3B7 | c.708G>C (p.Trp236Cys) c.545G>C (p.Gly182Ala) | |
16 | g.30987781G>T | CA395642234 | HSD3B7 | c.708G>T (p.Trp236Cys) c.545G>T (p.Gly182Val) | gnomAD v4 |
16 | g.30987782A>C | CA395642238 | HSD3B7 | c.709A>C (p.Met237Leu) c.546A>C (p.Gly182=) | |
16 | g.30987782A>G | CA395642240 | HSD3B7 | c.709A>G (p.Met237Val) c.546A>G (p.Gly182=) | |
16 | g.30987782A>T | CA395642245 | HSD3B7 | c.709A>T (p.Met237Leu) c.546A>T (p.Gly182=) | |
16 | g.30987783T>A | CA395642249 | HSD3B7 | c.710T>A (p.Met237Lys) c.547T>A (p.Cys183Ser) | |
16 | g.30987783T>C | CA395642253 | HSD3B7 | c.710T>C (p.Met237Thr) c.547T>C (p.Cys183Arg) | |
16 | g.30987783T>G | CA395642256 | HSD3B7 | c.710T>G (p.Met237Arg) c.547T>G (p.Cys183Gly) | |
16 | g.30987784G>A | CA395642260 | HSD3B7 | c.711G>A (p.Met237Ile) c.548G>A (p.Cys183Tyr) | |
16 | g.30987784G>C | CA395642264 | HSD3B7 | c.711G>C (p.Met237Ile) c.548G>C (p.Cys183Ser) | |
16 | g.30987784G= | CA2216824926 | HSD3B7 | c.711G= (p.Met237=) c.548G= (p.Cys183=) | |
16 | g.30987784G>T | CA395642266 | HSD3B7 | c.711G>T (p.Met237Ile) c.548G>T (p.Cys183Phe) | dbSNP gnomAD v2 |
16 | g.30987785C>A | CA395642269 | HSD3B7 | c.712C>A (p.His238Asn) c.549C>A (p.Cys183Ter) | |
16 | g.30987785C>G | CA395642271 | HSD3B7 | c.712C>G (p.His238Asp) c.549C>G (p.Cys183Trp) | |
16 | g.30987785C>T | CA395642274 | HSD3B7 | c.712C>T (p.His238Tyr) c.549C>T (p.Cys183=) | gnomAD v4 |
16 | g.30987786A>C | CA395642276 | HSD3B7 | c.713A>C (p.His238Pro) c.550A>C (p.Thr184Pro) | |
16 | g.30987786A>G | CA395642281 | HSD3B7 | c.713A>G (p.His238Arg) c.550A>G (p.Thr184Ala) | |
16 | g.30987786A>T | CA395642278 | HSD3B7 | c.713A>T (p.His238Leu) c.550A>T (p.Thr184Ser) | |
16 | g.30987787C>A | CA395642283 | HSD3B7 | c.714C>A (p.His238Gln) c.551C>A (p.Thr184Lys) | gnomAD v4 |
16 | g.30987787C= | CA2216824936 | HSD3B7 | c.714C= (p.His238=) c.551C= (p.Thr184=) | |
16 | g.30987787C>G | CA395642286 | HSD3B7 | c.714C>G (p.His238Gln) c.551C>G (p.Thr184Arg) | |
16 | g.30987787C>T | CA8018100 | HSD3B7 | c.714C>T (p.His238=) c.551C>T (p.Thr184Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987788G>A | CA8018101 | HSD3B7 | c.715G>A (p.Val239Met) c.552G>A (p.Thr184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987788G>C | CA395642292 | HSD3B7 | c.715G>C (p.Val239Leu) c.552G>C (p.Thr184=) | dbSNP |
16 | g.30987788G= | CA2216824941 | HSD3B7 | c.715G= (p.Val239=) c.552G= (p.Thr184=) | |
16 | g.30987788G>T | CA395642294 | HSD3B7 | c.715G>T (p.Val239Leu) c.552G>T (p.Thr184=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987789T>A | CA395642298 | HSD3B7 | c.716T>A (p.Val239Glu) c.553T>A (p.Cys185Ser) | |
16 | g.30987789T>C | CA395642299 | HSD3B7 | c.716T>C (p.Val239Ala) c.553T>C (p.Cys185Arg) | gnomAD v4 |
16 | g.30987789T>G | CA395642302 | HSD3B7 | c.716T>G (p.Val239Gly) c.553T>G (p.Cys185Gly) | |
16 | g.30987790G>A | CA280562943 | HSD3B7 | c.717G>A (p.Val239=) c.554G>A (p.Cys185Tyr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987790G>C | CA395642316 | HSD3B7 | c.717G>C (p.Val239=) c.554G>C (p.Cys185Ser) | |
16 | g.30987790G= | CA2216824942 | HSD3B7 | c.717G= (p.Val239=) c.554G= (p.Cys185=) | |
16 | g.30987790G>T | CA395642305 | HSD3B7 | c.717G>T (p.Val239=) c.554G>T (p.Cys185Phe) | gnomAD v4 |
16 | g.30987791C>A | CA395642321 | HSD3B7 | c.718C>A (p.Leu240Met) c.555C>A (p.Cys185Ter) | |
16 | g.30987791C>G | CA395642324 | HSD3B7 | c.718C>G (p.Leu240Val) c.555C>G (p.Cys185Trp) | |
16 | g.30987791C>T | CA494920854 | HSD3B7 | c.718C>T (p.Leu240=) c.555C>T (p.Cys185=) | |
16 | g.30987792T>A | CA395642329 | HSD3B7 | c.719T>A (p.Leu240Gln) c.556T>A (p.Trp186Arg) | |
16 | g.30987792T>C | CA395642332 | HSD3B7 | c.719T>C (p.Leu240Pro) c.556T>C (p.Trp186Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987792T>G | CA395642335 | HSD3B7 | c.719T>G (p.Leu240Arg) c.556T>G (p.Trp186Gly) | |
16 | g.30987792T= | CA2216824943 | HSD3B7 | c.719T= (p.Leu240=) c.556T= (p.Trp186=) | |
16 | g.30987793G>A | CA395642338 | HSD3B7 | c.720G>A (p.Leu240=) c.557G>A (p.Trp186Ter) | gnomAD v4 |
16 | g.30987793G>C | CA395642341 | HSD3B7 | c.720G>C (p.Leu240=) c.557G>C (p.Trp186Ser) | |
16 | g.30987793G>T | CA395642344 | HSD3B7 | c.720G>T (p.Leu240=) c.557G>T (p.Trp186Leu) | |
16 | g.30987794G>A | CA395642348 | HSD3B7 | c.721G>A (p.Ala241Thr) c.558G>A (p.Trp186Ter) | |
16 | g.30987794G>C | CA395642351 | HSD3B7 | c.721G>C (p.Ala241Pro) c.558G>C (p.Trp186Cys) | |
16 | g.30987794G>T | CA395642353 | HSD3B7 | c.721G>T (p.Ala241Ser) c.558G>T (p.Trp186Cys) | |
16 | g.30987794_30987795insAG | CA2573152292 | HSD3B7 | c.721_722insAG (p.Ala241GlufsTer12) c.558_559insAG (p.Gln187SerfsTer?) | ClinVar dbSNP |
16 | g.30987795C>A | CA395642362 | HSD3B7 | c.722C>A (p.Ala241Glu) c.559C>A (p.Gln187Lys) | gnomAD v4 |
16 | g.30987795C>G | CA395642359 | HSD3B7 | c.722C>G (p.Ala241Gly) c.559C>G (p.Gln187Glu) | |
16 | g.30987795C>T | CA395642356 | HSD3B7 | c.722C>T (p.Ala241Val) c.559C>T (p.Gln187Ter) | gnomAD v4 |
16 | g.30987796A= | CA2216824944 | HSD3B7 | c.723A= (p.Ala241=) c.560A= (p.Gln187=) | |
16 | g.30987796A>C | CA395642365 | HSD3B7 | c.723A>C (p.Ala241=) c.560A>C (p.Gln187Pro) | dbSNP |
16 | g.30987796A>G | CA395642367 | HSD3B7 | c.723A>G (p.Ala241=) c.560A>G (p.Gln187Arg) | |
16 | g.30987796A>T | CA395642371 | HSD3B7 | c.723A>T (p.Ala241=) c.560A>T (p.Gln187Leu) | |
16 | g.30987797G>A | CA395642374 | HSD3B7 | c.724G>A (p.Ala242Thr) c.561G>A (p.Gln187=) | |
16 | g.30987797G>C | CA395642376 | HSD3B7 | c.724G>C (p.Ala242Pro) c.561G>C (p.Gln187His) | |
16 | g.30987797G>T | CA395642379 | HSD3B7 | c.724G>T (p.Ala242Ser) c.561G>T (p.Gln187His) | gnomAD v4 |
16 | g.30987797_30987821delinsGCCCGGGAGCTGGAGCAGCGGGCAA | CA2216824945 | HSD3B7 | c.724_748delinsGCCCGGGAGCTGGAGCAGCGGGCAA (p.Ala242=) c.561_585delinsGCCCGGGAGCTGGAGCAGCGGGCAA (p.Gln187=) | |
16 | g.30987798C>A | CA395642383 | HSD3B7 | c.725C>A (p.Ala242Asp) c.562C>A (p.Pro188Thr) | |
16 | g.30987798C>G | CA395642385 | HSD3B7 | c.725C>G (p.Ala242Gly) c.562C>G (p.Pro188Ala) | |
16 | g.30987798C>T | CA395642388 | HSD3B7 | c.725C>T (p.Ala242Val) c.562C>T (p.Pro188Ser) | |
16 | g.30987801_30987824del | CA976327432 | HSD3B7 | c.728_751del (p.Arg243_Thr250del) c.565_588del (p.Gly189_Pro196del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987799C>A | CA395642392 | HSD3B7 | c.726C>A (p.Ala242=) c.563C>A (p.Pro188His) | |
16 | g.30987799C>G | CA395642395 | HSD3B7 | c.726C>G (p.Ala242=) c.563C>G (p.Pro188Arg) | gnomAD v4 |
16 | g.30987799C>T | CA395642398 | HSD3B7 | c.726C>T (p.Ala242=) c.563C>T (p.Pro188Leu) | |
16 | g.30987800C>A | CA494920856 | HSD3B7 | c.727C>A (p.Arg243=) c.564C>A (p.Pro188=) | dbSNP |
16 | g.30987800C= | CA2216824946 | HSD3B7 | c.727C= (p.Arg243=) c.564C= (p.Pro188=) | |
16 | g.30987800C>G | CA395642402 | HSD3B7 | c.727C>G (p.Arg243Gly) c.564C>G (p.Pro188=) | gnomAD v4 |
16 | g.30987800C>T | CA280562948 | HSD3B7 | c.727C>T (p.Arg243Trp) c.564C>T (p.Pro188=) | ClinVar dbSNP gnomAD v4 |
16 | g.30987801G>A | CA8018102 | HSD3B7 | c.728G>A (p.Arg243Gln) c.565G>A (p.Gly189Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987801G>C | CA395642410 | HSD3B7 | c.728G>C (p.Arg243Pro) c.565G>C (p.Gly189Arg) | |
16 | g.30987801G= | CA2216824954 | HSD3B7 | c.728G= (p.Arg243=) c.565G= (p.Gly189=) | |
16 | g.30987801G>T | CA395642408 | HSD3B7 | c.728G>T (p.Arg243Leu) c.565G>T (p.Gly189Trp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987802G>A | CA395642413 | HSD3B7 | c.729G>A (p.Arg243=) c.566G>A (p.Gly189Glu) | |
16 | g.30987802G>C | CA395642417 | HSD3B7 | c.729G>C (p.Arg243=) c.566G>C (p.Gly189Ala) | |
16 | g.30987802G>T | CA395642419 | HSD3B7 | c.729G>T (p.Arg243=) c.566G>T (p.Gly189Val) | |
16 | g.30987803G>A | CA395642422 | HSD3B7 | c.730G>A (p.Glu244Lys) c.567G>A (p.Gly189=) | |
16 | g.30987803G>C | CA395642424 | HSD3B7 | c.730G>C (p.Glu244Gln) c.567G>C (p.Gly189=) | |
16 | g.30987803G>T | CA395642427 | HSD3B7 | c.730G>T (p.Glu244Ter) c.567G>T (p.Gly189=) | |
16 | g.30987804A>C | CA395642431 | HSD3B7 | c.731A>C (p.Glu244Ala) c.568A>C (p.Ser190Arg) | |
16 | g.30987804A>G | CA395642433 | HSD3B7 | c.731A>G (p.Glu244Gly) c.568A>G (p.Ser190Gly) | gnomAD v4 |
16 | g.30987804A>T | CA395642436 | HSD3B7 | c.731A>T (p.Glu244Val) c.568A>T (p.Ser190Cys) | |
16 | g.30987805G>A | CA395642443 | HSD3B7 | c.732G>A (p.Glu244=) c.569G>A (p.Ser190Asn) | |
16 | g.30987805G>C | CA395642441 | HSD3B7 | c.732G>C (p.Glu244Asp) c.569G>C (p.Ser190Thr) | |
16 | g.30987805G>T | CA395642438 | HSD3B7 | c.732G>T (p.Glu244Asp) c.569G>T (p.Ser190Ile) | gnomAD v4 |
16 | g.30987806C>A | CA395642447 | HSD3B7 | c.733C>A (p.Leu245Met) c.570C>A (p.Ser190Arg) | |
16 | g.30987806C>G | CA395642449 | HSD3B7 | c.733C>G (p.Leu245Val) c.570C>G (p.Ser190Arg) | |
16 | g.30987806C>T | CA494920860 | HSD3B7 | c.733C>T (p.Leu245=) c.570C>T (p.Ser190=) | |
16 | g.30987807T>A | CA395642456 | HSD3B7 | c.734T>A (p.Leu245Gln) c.571T>A (p.Trp191Arg) | |
16 | g.30987807T>C | CA395642460 | HSD3B7 | c.734T>C (p.Leu245Pro) c.571T>C (p.Trp191Arg) | |
16 | g.30987807T>G | CA395642463 | HSD3B7 | c.734T>G (p.Leu245Arg) c.571T>G (p.Trp191Gly) | |
16 | g.30987808G>A | CA280562955 | HSD3B7 | c.735G>A (p.Leu245=) c.572G>A (p.Trp191Ter) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987808G>C | CA395642470 | HSD3B7 | c.735G>C (p.Leu245=) c.572G>C (p.Trp191Ser) | |
16 | g.30987808G= | CA2216824958 | HSD3B7 | c.735G= (p.Leu245=) c.572G= (p.Trp191=) | |
16 | g.30987808G>T | CA395642472 | HSD3B7 | c.735G>T (p.Leu245=) c.572G>T (p.Trp191Leu) | gnomAD v4 |
16 | g.30987809G>A | CA395642474 | HSD3B7 | c.736G>A (p.Glu246Lys) c.573G>A (p.Trp191Ter) | gnomAD v4 |
16 | g.30987809G>C | CA395642477 | HSD3B7 | c.736G>C (p.Glu246Gln) c.573G>C (p.Trp191Cys) | |
16 | g.30987809G>T | CA395642478 | HSD3B7 | c.736G>T (p.Glu246Ter) c.573G>T (p.Trp191Cys) | |
16 | g.30987810A>C | CA395642480 | HSD3B7 | c.737A>C (p.Glu246Ala) c.574A>C (p.Ser192Arg) | |
16 | g.30987810A>G | CA395642481 | HSD3B7 | c.737A>G (p.Glu246Gly) c.574A>G (p.Ser192Gly) | |
16 | g.30987810A>T | CA395642479 | HSD3B7 | c.737A>T (p.Glu246Val) c.574A>T (p.Ser192Cys) | |
16 | g.30987811G>A | CA395642482 | HSD3B7 | c.738G>A (p.Glu246=) c.575G>A (p.Ser192Asn) | gnomAD v4 |
16 | g.30987811G>C | CA395642483 | HSD3B7 | c.738G>C (p.Glu246Asp) c.575G>C (p.Ser192Thr) | |
16 | g.30987811G>T | CA395642485 | HSD3B7 | c.738G>T (p.Glu246Asp) c.575G>T (p.Ser192Ile) | gnomAD v4 |
16 | g.30987812C>A | CA395642487 | HSD3B7 | c.739C>A (p.Gln247Lys) c.576C>A (p.Ser192Arg) | |
16 | g.30987812C>G | CA395642489 | HSD3B7 | c.739C>G (p.Gln247Glu) c.576C>G (p.Ser192Arg) | |
16 | g.30987812C>T | CA395642491 | HSD3B7 | c.739C>T (p.Gln247Ter) c.576C>T (p.Ser192=) | |
16 | g.30987813A>C | CA395642495 | HSD3B7 | c.740A>C (p.Gln247Pro) c.577A>C (p.Ser193Arg) | |
16 | g.30987813A>G | CA395642496 | HSD3B7 | c.740A>G (p.Gln247Arg) c.577A>G (p.Ser193Gly) | |
16 | g.30987813A>T | CA395642499 | HSD3B7 | c.740A>T (p.Gln247Leu) c.577A>T (p.Ser193Cys) | |
16 | g.30987814G>A | CA395642503 | HSD3B7 | c.741G>A (p.Gln247=) c.578G>A (p.Ser193Asn) | |
16 | g.30987814G>C | CA395642505 | HSD3B7 | c.741G>C (p.Gln247His) c.578G>C (p.Ser193Thr) | |
16 | g.30987814G>T | CA395642507 | HSD3B7 | c.741G>T (p.Gln247His) c.578G>T (p.Ser193Ile) | |
16 | g.30987814_30987821delinsGCGGGCAA | CA2216824960 | HSD3B7 | c.741_748delinsGCGGGCAA (p.Gln247=) c.578_585delinsGCGGGCAA (p.Ser193=) | |
16 | g.30987815C>A | CA395642519 | HSD3B7 | c.742C>A (p.Arg248=) c.579C>A (p.Ser193Arg) | |
16 | g.30987815C= | CA2216824965 | HSD3B7 | c.742C= (p.Arg248=) c.579C= (p.Ser193=) | |
16 | g.30987815C>G | CA395642513 | HSD3B7 | c.742C>G (p.Arg248Gly) c.579C>G (p.Ser193Arg) | |
16 | g.30987815C>T | CA8018103 | HSD3B7 | c.742C>T (p.Arg248Trp) c.579C>T (p.Ser193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987816_30987822del | CA280562964 | HSD3B7 | c.743_749del (p.Arg248ProfsTer2) c.580_586del (p.Gly194ProfsTer?) | dbSNP |
16 | g.30987816G>A | CA395642523 | HSD3B7 | c.743G>A (p.Arg248Gln) c.580G>A (p.Gly194Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987816G>C | CA395642526 | HSD3B7 | c.743G>C (p.Arg248Pro) c.580G>C (p.Gly194Arg) | gnomAD v4 |
16 | g.30987816G= | CA2216824971 | HSD3B7 | c.743G= (p.Arg248=) c.580G= (p.Gly194=) | |
16 | g.30987816G>T | CA395642527 | HSD3B7 | c.743G>T (p.Arg248Leu) c.580G>T (p.Gly194Trp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987818dup | CA2838777562 | HSD3B7 | c.745dup (p.Ala249GlyfsTer?) c.582dup (p.Gln195AlafsTer?) | |
16 | g.30987816_30987837delinsGGGCAACCCTGATGGGCGGCCA | CA2216824970 | HSD3B7 | c.743_764delinsGGGCAACCCTGATGGGCGGCCA (p.Arg248=) c.580_*10delinsGGGCAACCCTGATGGGCGGCCA (n.[c.580_*10delinsGGGCAACCCTGATGGGCGGCCA;Gly194=]) | |
16 | g.30987817G>A | CA395642531 | HSD3B7 | c.744G>A (p.Arg248=) c.581G>A (p.Gly194Glu) | |
16 | g.30987817G>C | CA395642533 | HSD3B7 | c.744G>C (p.Arg248=) c.581G>C (p.Gly194Ala) | |
16 | g.30987817G>T | CA395642536 | HSD3B7 | c.744G>T (p.Arg248=) c.581G>T (p.Gly194Val) | |
16 | g.30987819_30987839del | CA2216824975 | HSD3B7 | c.746_766del (p.Ala249_Gln255del) c.583_*12del (n.[c.583_*12del;Gln195TyrfsTer?]) | dbSNP |
16 | g.30987818G>A | CA395642539 | HSD3B7 | c.745G>A (p.Ala249Thr) c.582G>A (p.Gly194=) | |
16 | g.30987818G>C | CA395642542 | HSD3B7 | c.745G>C (p.Ala249Pro) c.582G>C (p.Gly194=) | |
16 | g.30987818G>T | CA395642545 | HSD3B7 | c.745G>T (p.Ala249Ser) c.582G>T (p.Gly194=) | |
16 | g.30987819C>A | CA395642548 | HSD3B7 | c.746C>A (p.Ala249Glu) c.583C>A (p.Gln195Lys) | |
16 | g.30987819C= | CA2216824979 | HSD3B7 | c.746C= (p.Ala249=) c.583C= (p.Gln195=) | |
16 | g.30987819C>G | CA395642551 | HSD3B7 | c.746C>G (p.Ala249Gly) c.583C>G (p.Gln195Glu) | gnomAD v4 |
16 | g.30987819C>T | CA395642553 | HSD3B7 | c.746C>T (p.Ala249Val) c.583C>T (p.Gln195Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987820A>C | CA395642558 | HSD3B7 | c.747A>C (p.Ala249=) c.584A>C (p.Gln195Pro) | |
16 | g.30987820A>G | CA395642561 | HSD3B7 | c.747A>G (p.Ala249=) c.584A>G (p.Gln195Arg) | gnomAD v4 |
16 | g.30987820A>T | CA395642557 | HSD3B7 | c.747A>T (p.Ala249=) c.584A>T (p.Gln195Leu) | |
16 | g.30987821A= | CA2216824988 | HSD3B7 | c.748A= (p.Thr250=) c.585A= (p.Gln195=) | |
16 | g.30987821A>C | CA395642566 | HSD3B7 | c.748A>C (p.Thr250Pro) c.585A>C (p.Gln195His) | dbSNP |
16 | g.30987821A>G | CA8018104 | HSD3B7 | c.748A>G (p.Thr250Ala) c.585A>G (p.Gln195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987821A>T | CA8018105 | HSD3B7 | c.748A>T (p.Thr250Ser) c.585A>T (p.Gln195His) | dbSNP ExAC gnomAD v2 |
16 | g.30987822C>A | CA395642569 | HSD3B7 | c.749C>A (p.Thr250Asn) c.586C>A (p.Pro196Thr) | dbSNP |
16 | g.30987822C= | CA2216825016 | HSD3B7 | c.749C= (p.Thr250=) c.586C= (p.Pro196=) | |
16 | g.30987822C>G | CA395642571 | HSD3B7 | c.749C>G (p.Thr250Ser) c.586C>G (p.Pro196Ala) | |
16 | g.30987822C>T | CA395642574 | HSD3B7 | c.749C>T (p.Thr250Ile) c.586C>T (p.Pro196Ser) | |
16 | g.30987823C>A | CA395642577 | HSD3B7 | c.750C>A (p.Thr250=) c.587C>A (p.Pro196His) | dbSNP gnomAD v4 |
16 | g.30987823C= | CA2216825026 | HSD3B7 | c.750C= (p.Thr250=) c.587C= (p.Pro196=) | |
16 | g.30987823C>G | CA395642579 | HSD3B7 | c.750C>G (p.Thr250=) c.587C>G (p.Pro196Arg) | |
16 | g.30987823C>T | CA395642582 | HSD3B7 | c.750C>T (p.Thr250=) c.587C>T (p.Pro196Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987824C>A | CA395642585 | HSD3B7 | c.751C>A (p.Leu251Met) c.588C>A (p.Pro196=) | |
16 | g.30987824C>G | CA395642588 | HSD3B7 | c.751C>G (p.Leu251Val) c.588C>G (p.Pro196=) | gnomAD v4 |
16 | g.30987824C>T | CA494920863 | HSD3B7 | c.751C>T (p.Leu251=) c.588C>T (p.Pro196=) | |
16 | g.30987825T>A | CA395642592 | HSD3B7 | c.752T>A (p.Leu251Gln) c.589T>A (p.Ter197Arg) | |
16 | g.30987825T>C | CA395642594 | HSD3B7 | c.752T>C (p.Leu251Pro) c.589T>C (p.Ter197Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987825T>G | CA395642596 | HSD3B7 | c.752T>G (p.Leu251Arg) c.589T>G (p.Ter197Gly) | |
16 | g.30987825T= | CA2216825029 | HSD3B7 | c.752T= (p.Leu251=) c.589T= (p.Ter197=) | |
16 | g.30987826G>A | CA494920864 | HSD3B7 | c.753G>A (p.Leu251=) c.590G>A (p.Ter197=) | |
16 | g.30987826G>C | CA395642598 | HSD3B7 | c.753G>C (p.Leu251=) c.590G>C (p.Ter197Ser) | dbSNP |
16 | g.30987826G= | CA2216825034 | HSD3B7 | c.753G= (p.Leu251=) c.590G= (p.Ter197=) | |
16 | g.30987826G>T | CA395642599 | HSD3B7 | c.753G>T (p.Leu251=) c.590G>T (p.Ter197Leu) | gnomAD v4 |
16 | g.30987827A>C | CA395642608 | HSD3B7 | c.754A>C (p.Met252Leu) c.591A>C (p.Ter197Cys) | |
16 | g.30987827A>G | CA395642604 | HSD3B7 | c.754A>G (p.Met252Val) c.591A>G (p.Ter197Trp) | gnomAD v4 |
16 | g.30987827A>T | CA395642605 | HSD3B7 | c.754A>T (p.Met252Leu) c.591A>T (p.Ter197Cys) | |
16 | g.30987828T>A | CA395642613 | HSD3B7 | c.755T>A (p.Met252Lys) c.*1T>A (n.*1T>A) | |
16 | g.30987828T>C | CA395642616 | HSD3B7 | c.755T>C (p.Met252Thr) c.*1T>C (n.*1T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987828T>G | CA395642618 | HSD3B7 | c.755T>G (p.Met252Arg) c.*1T>G (n.*1T>G) | |
16 | g.30987828T= | CA2216825038 | HSD3B7 | c.755T= (p.Met252=) c.*1T= (n.*1T=) | |
16 | g.30987829G>A | CA395642622 | HSD3B7 | c.756G>A (p.Met252Ile) c.*2G>A (n.*2G>A) | gnomAD v4 |
16 | g.30987829G>C | CA395642630 | HSD3B7 | c.756G>C (p.Met252Ile) c.*2G>C (n.*2G>C) | |
16 | g.30987829G>T | CA395642633 | HSD3B7 | c.756G>T (p.Met252Ile) c.*2G>T (n.*2G>T) | dbSNP gnomAD v4 |
16 | g.30987830G>A | CA8018106 | HSD3B7 | c.757G>A (p.Gly253Ser) c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987830G>C | CA395642637 | HSD3B7 | c.757G>C (p.Gly253Arg) c.*3G>C (n.*3G>C) | |
16 | g.30987830G= | CA2216825043 | HSD3B7 | c.757G= (p.Gly253=) c.*3G= (n.*3G=) | |
16 | g.30987830G>T | CA395642640 | HSD3B7 | c.757G>T (p.Gly253Cys) c.*3G>T (n.*3G>T) | |
16 | g.30987831G>A | CA395642642 | HSD3B7 | c.758G>A (p.Gly253Asp) c.*4G>A (n.*4G>A) | |
16 | g.30987831G>C | CA395642643 | HSD3B7 | c.758G>C (p.Gly253Ala) c.*4G>C (n.*4G>C) | |
16 | g.30987831G>T | CA395642645 | HSD3B7 | c.758G>T (p.Gly253Val) c.*4G>T (n.*4G>T) | |
16 | g.30987832C>A | CA494920868 | HSD3B7 | c.759C>A (p.Gly253=) c.*5C>A (n.*5C>A) | |
16 | g.30987832C= | CA2216825047 | HSD3B7 | c.759C= (p.Gly253=) c.*5C= (n.*5C=) | |
16 | g.30987832C>G | CA494920870 | HSD3B7 | c.759C>G (p.Gly253=) c.*5C>G (n.*5C>G) | |
16 | g.30987832C>T | CA8018107 | HSD3B7 | c.759C>T (p.Gly253=) c.*5C>T (n.*5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987833G>A | CA8018108 | HSD3B7 | c.760G>A (p.Gly254Ser) c.*6G>A (n.*6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987833G>C | CA395642652 | HSD3B7 | c.760G>C (p.Gly254Arg) c.*6G>C (n.*6G>C) | |
16 | g.30987833G= | CA2216825051 | HSD3B7 | c.760G= (p.Gly254=) c.*6G= (n.*6G=) | |
16 | g.30987833G>T | CA395642653 | HSD3B7 | c.760G>T (p.Gly254Cys) c.*6G>T (n.*6G>T) | gnomAD v4 |
16 | g.30987834G>A | CA395642655 | HSD3B7 | c.761G>A (p.Gly254Asp) c.*7G>A (n.*7G>A) | COSMIC |
16 | g.30987834G>C | CA395642657 | HSD3B7 | c.761G>C (p.Gly254Ala) c.*7G>C (n.*7G>C) | |
16 | g.30987834G>T | CA395642660 | HSD3B7 | c.761G>T (p.Gly254Val) c.*7G>T (n.*7G>T) | |
16 | g.30987835C>A | CA494920871 | HSD3B7 | c.762C>A (p.Gly254=) c.*8C>A (n.*8C>A) | |
16 | g.30987835C>G | CA494920872 | HSD3B7 | c.762C>G (p.Gly254=) c.*8C>G (n.*8C>G) | |
16 | g.30987835C>T | CA494920873 | HSD3B7 | c.762C>T (p.Gly254=) c.*8C>T (n.*8C>T) | |
16 | g.30987836del | CA2632795733 | HSD3B7 | c.763del (p.Gln255ArgfsTer?) c.*9del (n.*9del) | gnomAD v4 |
16 | g.30987836C>A | CA395642664 | HSD3B7 | c.763C>A (p.Gln255Lys) c.*9C>A (n.*9C>A) | |
16 | g.30987836C>G | CA395642665 | HSD3B7 | c.763C>G (p.Gln255Glu) c.*9C>G (n.*9C>G) | |
16 | g.30987836C>T | CA395642668 | HSD3B7 | c.763C>T (p.Gln255Ter) c.*9C>T (n.*9C>T) | gnomAD v4 |
16 | g.30987837A>C | CA395642669 | HSD3B7 | c.764A>C (p.Gln255Pro) c.*10A>C (n.*10A>C) | |
16 | g.30987837A>G | CA395642670 | HSD3B7 | c.764A>G (p.Gln255Arg) c.*10A>G (n.*10A>G) | |
16 | g.30987837A>T | CA395642673 | HSD3B7 | c.764A>T (p.Gln255Leu) c.*10A>T (n.*10A>T) | |
16 | g.30987838G>A | CA494920875 | HSD3B7 | c.765G>A (p.Gln255=) c.*11G>A (n.*11G>A) | |
16 | g.30987838G>C | CA8018109 | HSD3B7 | c.765G>C (p.Gln255His) c.*11G>C (n.*11G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987838G= | CA2216825058 | HSD3B7 | c.765G= (p.Gln255=) c.*11G= (n.*11G=) | |
16 | g.30987838G>T | CA395642676 | HSD3B7 | c.765G>T (p.Gln255His) c.*11G>T (n.*11G>T) | |
16 | g.30987839G>A | CA395642686 | HSD3B7 | c.766G>A (p.Val256Ile) c.*12G>A (n.*12G>A) | |
16 | g.30987839G>C | CA395642680 | HSD3B7 | c.766G>C (p.Val256Leu) c.*12G>C (n.*12G>C) | gnomAD v4 |
16 | g.30987839G>T | CA395642682 | HSD3B7 | c.766G>T (p.Val256Leu) c.*12G>T (n.*12G>T) | |
16 | g.30987840T>A | CA395642690 | HSD3B7 | c.767T>A (p.Val256Glu) c.*13T>A (n.*13T>A) | gnomAD v4 |
16 | g.30987840T>C | CA395642692 | HSD3B7 | c.767T>C (p.Val256Ala) c.*13T>C (n.*13T>C) | |
16 | g.30987840T>G | CA395642695 | HSD3B7 | c.767T>G (p.Val256Gly) c.*13T>G (n.*13T>G) | dbSNP |
16 | g.30987840T= | CA2216825062 | HSD3B7 | c.767T= (p.Val256=) c.*13T= (n.*13T=) | |
16 | g.30987841A= | CA2216825068 | HSD3B7 | c.768A= (p.Val256=) c.*14A= (n.*14A=) | |
16 | g.30987841A>C | CA494920876 | HSD3B7 | c.768A>C (p.Val256=) c.*14A>C (n.*14A>C) | |
16 | g.30987841A>G | CA494920877 | HSD3B7 | c.768A>G (p.Val256=) c.*14A>G (n.*14A>G) | dbSNP |
16 | g.30987841A>T | CA494920878 | HSD3B7 | c.768A>T (p.Val256=) c.*14A>T (n.*14A>T) | |
16 | g.30987842T>A | CA395642699 | HSD3B7 | c.769T>A (p.Tyr257Asn) c.*15T>A (n.*15T>A) | |
16 | g.30987842T>C | CA395642702 | HSD3B7 | c.769T>C (p.Tyr257His) c.*15T>C (n.*15T>C) | gnomAD v4 |
16 | g.30987842T>G | CA8018110 | HSD3B7 | c.769T>G (p.Tyr257Asp) c.*15T>G (n.*15T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987842T= | CA2216825074 | HSD3B7 | c.769T= (p.Tyr257=) c.*15T= (n.*15T=) | |
16 | g.30987843A>C | CA395642706 | HSD3B7 | c.770A>C (p.Tyr257Ser) c.*16A>C (n.*16A>C) | gnomAD v4 |
16 | g.30987843A>G | CA395642708 | HSD3B7 | c.770A>G (p.Tyr257Cys) c.*16A>G (n.*16A>G) | |
16 | g.30987843A>T | CA395642709 | HSD3B7 | c.770A>T (p.Tyr257Phe) c.*16A>T (n.*16A>T) | |
16 | g.30987844C>A | CA395642711 | HSD3B7 | c.771C>A (p.Tyr257Ter) c.*17C>A (n.*17C>A) | |
16 | g.30987844C= | CA2216825075 | HSD3B7 | c.771C= (p.Tyr257=) c.*17C= (n.*17C=) | |
16 | g.30987844C>G | CA395642713 | HSD3B7 | c.771C>G (p.Tyr257Ter) c.*17C>G (n.*17C>G) | |
16 | g.30987844C>T | CA494920881 | HSD3B7 | c.771C>T (p.Tyr257=) c.*17C>T (n.*17C>T) | dbSNP |
16 | g.30987845T>A | CA395642722 | HSD3B7 | c.772T>A (p.Phe258Ile) c.*18T>A (n.*18T>A) | |
16 | g.30987845T>C | CA395642719 | HSD3B7 | c.772T>C (p.Phe258Leu) c.*18T>C (n.*18T>C) | |
16 | g.30987845T>G | CA395642716 | HSD3B7 | c.772T>G (p.Phe258Val) c.*18T>G (n.*18T>G) | |
16 | g.30987846T>A | CA395642726 | HSD3B7 | c.773T>A (p.Phe258Tyr) c.*19T>A (n.*19T>A) | |
16 | g.30987846T>C | CA395642731 | HSD3B7 | c.773T>C (p.Phe258Ser) c.*19T>C (n.*19T>C) | |
16 | g.30987846T>G | CA395642728 | HSD3B7 | c.773T>G (p.Phe258Cys) c.*19T>G (n.*19T>G) | |
16 | g.30987847C>A | CA395642733 | HSD3B7 | c.774C>A (p.Phe258Leu) c.*20C>A (n.*20C>A) | COSMIC |
16 | g.30987847C>G | CA395642735 | HSD3B7 | c.774C>G (p.Phe258Leu) c.*20C>G (n.*20C>G) | |
16 | g.30987847C>T | CA494920882 | HSD3B7 | c.774C>T (p.Phe258=) c.*20C>T (n.*20C>T) | |
16 | g.30987849_30987851del | CA645572535 | HSD3B7 | c.776_778del (p.Cys259del) c.*22_*24del (n.*22_*24del) | COSMIC |
16 | g.30987848T>A | CA395642739 | HSD3B7 | c.775T>A (p.Cys259Ser) c.*21T>A (n.*21T>A) | |
16 | g.30987848T>C | CA395642742 | HSD3B7 | c.775T>C (p.Cys259Arg) c.*21T>C (n.*21T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30987848T>G | CA395642743 | HSD3B7 | c.775T>G (p.Cys259Gly) c.*21T>G (n.*21T>G) | |
16 | g.30987848T= | CA2216825078 | HSD3B7 | c.775T= (p.Cys259=) c.*21T= (n.*21T=) | |
16 | g.30987849G>A | CA395642746 | HSD3B7 | c.776G>A (p.Cys259Tyr) c.*22G>A (n.*22G>A) | |
16 | g.30987849G>C | CA395642748 | HSD3B7 | c.776G>C (p.Cys259Ser) c.*22G>C (n.*22G>C) | |
16 | g.30987849G>T | CA395642750 | HSD3B7 | c.776G>T (p.Cys259Phe) c.*22G>T (n.*22G>T) | |
16 | g.30987850C>A | CA395642755 | HSD3B7 | c.777C>A (p.Cys259Ter) c.*23C>A (n.*23C>A) | |
16 | g.30987850C= | CA2216825082 | HSD3B7 | c.777C= (p.Cys259=) c.*23C= (n.*23C=) | |
16 | g.30987850C>G | CA8018111 | HSD3B7 | c.777C>G (p.Cys259Trp) c.*23C>G (n.*23C>G) | dbSNP ExAC gnomAD v4 |
16 | g.30987850C>T | CA494920883 | HSD3B7 | c.777C>T (p.Cys259=) c.*23C>T (n.*23C>T) | gnomAD v4 |
16 | g.30987851T>A | CA395642761 | HSD3B7 | c.778T>A (p.Tyr260Asn) c.*24T>A (n.*24T>A) | |
16 | g.30987851T>C | CA280563021 | HSD3B7 | c.778T>C (p.Tyr260His) c.*24T>C (n.*24T>C) | dbSNP |
16 | g.30987851T>G | CA395642766 | HSD3B7 | c.778T>G (p.Tyr260Asp) c.*24T>G (n.*24T>G) | |
16 | g.30987851T= | CA2216825087 | HSD3B7 | c.778T= (p.Tyr260=) c.*24T= (n.*24T=) | |
16 | g.30987852A= | CA2216825090 | HSD3B7 | c.779A= (p.Tyr260=) c.*25A= (n.*25A=) | |
16 | g.30987852A>C | CA395642769 | HSD3B7 | c.779A>C (p.Tyr260Ser) c.*25A>C (n.*25A>C) | |
16 | g.30987852A>G | CA395642774 | HSD3B7 | c.779A>G (p.Tyr260Cys) c.*25A>G (n.*25A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987852A>T | CA395642772 | HSD3B7 | c.779A>T (p.Tyr260Phe) c.*25A>T (n.*25A>T) | |
16 | g.30987853C>A | CA395642776 | HSD3B7 | c.780C>A (p.Tyr260Ter) c.*26C>A (n.*26C>A) | |
16 | g.30987853C= | CA2216825095 | HSD3B7 | c.780C= (p.Tyr260=) c.*26C= (n.*26C=) | |
16 | g.30987853C>G | CA8018112 | HSD3B7 | c.780C>G (p.Tyr260Ter) c.*26C>G (n.*26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987853C>T | CA494920885 | HSD3B7 | c.780C>T (p.Tyr260=) c.*26C>T (n.*26C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987854G>A | CA8018113 | HSD3B7 | c.781G>A (p.Asp261Asn) c.*27G>A (n.*27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987854G>C | CA395642781 | HSD3B7 | c.781G>C (p.Asp261His) c.*27G>C (n.*27G>C) | |
16 | g.30987854G= | CA2216825099 | HSD3B7 | c.781G= (p.Asp261=) c.*27G= (n.*27G=) | |
16 | g.30987854G>T | CA395642783 | HSD3B7 | c.781G>T (p.Asp261Tyr) c.*27G>T (n.*27G>T) | |
16 | g.30987855_30987857dup | CA2632795766 | HSD3B7 | c.782_784dup (p.Asp261_Gly262insAsp) c.*28_*30dup (n.*28_*30dup) | gnomAD v4 |
16 | g.30987855A= | CA2216825104 | HSD3B7 | c.782A= (p.Asp261=) c.*28A= (n.*28A=) | |
16 | g.30987855A>C | CA395642788 | HSD3B7 | c.782A>C (p.Asp261Ala) c.*28A>C (n.*28A>C) | |
16 | g.30987855A>G | CA8018114 | HSD3B7 | c.782A>G (p.Asp261Gly) c.*28A>G (n.*28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987855A>T | CA395642792 | HSD3B7 | c.782A>T (p.Asp261Val) c.*28A>T (n.*28A>T) | |
16 | g.30987856T>A | CA395642795 | HSD3B7 | c.783T>A (p.Asp261Glu) c.*29T>A (n.*29T>A) | |
16 | g.30987856T>C | CA494920886 | HSD3B7 | c.783T>C (p.Asp261=) c.*29T>C (n.*29T>C) | |
16 | g.30987856T>G | CA395642797 | HSD3B7 | c.783T>G (p.Asp261Glu) c.*29T>G (n.*29T>G) | |
16 | g.30987856_30987858delinsTGG | CA2216825115 | HSD3B7 | c.783_785delinsTGG (p.Asp261=) c.*29_*31delinsTGG (n.*29_*31delinsTGG) | |
16 | g.30987856_30987879delinsTGGATCACCCTACAGGAGCTACGA | CA2216825112 | HSD3B7 | c.783_806delinsTGGATCACCCTACAGGAGCTACGA (p.Asp261=) c.*29_*52delinsTGGATCACCCTACAGGAGCTACGA (n.*29_*52delinsTGGATCACCCTACAGGAGCTACGA) | |
16 | g.30987857G>A | CA395642806 | HSD3B7 | c.784G>A (p.Gly262Arg) c.*30G>A (n.*30G>A) | |
16 | g.30987857G>C | CA395642802 | HSD3B7 | c.784G>C (p.Gly262Arg) c.*30G>C (n.*30G>C) | |
16 | g.30987857G>T | CA395642807 | HSD3B7 | c.784G>T (p.Gly262Ter) c.*30G>T (n.*30G>T) | |
16 | g.30987857_30987858del | CA2216825118 | HSD3B7 | c.784_785del (p.Gly262IlefsTer?) c.*30_*31del (n.*30_*31del) | dbSNP |
16 | g.30987858_30987871del | CA2632795779 | HSD3B7 | c.785_798del (p.Gly262GlufsTer?) c.*31_*44del (n.*31_*44del) | gnomAD v4 |
16 | g.30987861_30987883del | CA8018115 | HSD3B7 | c.788_810del (p.Ser263PhefsTer?) c.*34_*56del (n.*34_*56del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30987858G>A | CA395642812 | HSD3B7 | c.785G>A (p.Gly262Glu) c.*31G>A (n.*31G>A) | |
16 | g.30987858G>C | CA395642814 | HSD3B7 | c.785G>C (p.Gly262Ala) c.*31G>C (n.*31G>C) | |
16 | g.30987858G>T | CA395642817 | HSD3B7 | c.785G>T (p.Gly262Val) c.*31G>T (n.*31G>T) | |
16 | g.30987859A= | CA2216825125 | HSD3B7 | c.786A= (p.Gly262=) c.*32A= (n.*32A=) | |
16 | g.30987859A>C | CA8018116 | HSD3B7 | c.786A>C (p.Gly262=) c.*32A>C (n.*32A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987859A>G | CA494920890 | HSD3B7 | c.786A>G (p.Gly262=) c.*32A>G (n.*32A>G) | |
16 | g.30987859A>T | CA494920891 | HSD3B7 | c.786A>T (p.Gly262=) c.*32A>T (n.*32A>T) | |
16 | g.30987859_30987860insAG | CA2216825128 | HSD3B7 | c.786_787insAG (p.Pro264HisfsTer?) c.*32_*33insAG (n.*32_*33insAG) | dbSNP |
16 | g.30987860T>A | CA395642839 | HSD3B7 | c.787T>A (p.Ser263Thr) c.*33T>A (n.*33T>A) | |
16 | g.30987860T>C | CA395642836 | HSD3B7 | c.787T>C (p.Ser263Pro) c.*33T>C (n.*33T>C) | |
16 | g.30987860T>G | CA395642834 | HSD3B7 | c.787T>G (p.Ser263Ala) c.*33T>G (n.*33T>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987860T= | CA2216825129 | HSD3B7 | c.787T= (p.Ser263=) c.*33T= (n.*33T=) | |
16 | g.30987861C>A | CA395642842 | HSD3B7 | c.788C>A (p.Ser263Ter) c.*34C>A (n.*34C>A) | |
16 | g.30987861C>G | CA395642843 | HSD3B7 | c.788C>G (p.Ser263Ter) c.*34C>G (n.*34C>G) | |
16 | g.30987861C>T | CA395642845 | HSD3B7 | c.788C>T (p.Ser263Leu) c.*34C>T (n.*34C>T) | |
16 | g.30987862A>C | CA494920892 | HSD3B7 | c.789A>C (p.Ser263=) c.*35A>C (n.*35A>C) | |
16 | g.30987862A>G | CA494920894 | HSD3B7 | c.789A>G (p.Ser263=) c.*35A>G (n.*35A>G) | |
16 | g.30987862A>T | CA494920893 | HSD3B7 | c.789A>T (p.Ser263=) c.*35A>T (n.*35A>T) | |
16 | g.30987863C>A | CA395642848 | HSD3B7 | c.790C>A (p.Pro264Thr) c.*36C>A (n.*36C>A) | |
16 | g.30987863C>G | CA395642849 | HSD3B7 | c.790C>G (p.Pro264Ala) c.*36C>G (n.*36C>G) | |
16 | g.30987863C>T | CA395642853 | HSD3B7 | c.790C>T (p.Pro264Ser) c.*36C>T (n.*36C>T) | gnomAD v4 COSMIC |
16 | g.30987864C>A | CA395642856 | HSD3B7 | c.791C>A (p.Pro264His) c.*37C>A (n.*37C>A) | |
16 | g.30987864C= | CA2216825133 | HSD3B7 | c.791C= (p.Pro264=) c.*37C= (n.*37C=) | |
16 | g.30987864C>G | CA395642862 | HSD3B7 | c.791C>G (p.Pro264Arg) c.*37C>G (n.*37C>G) | |
16 | g.30987864C>T | CA395642859 | HSD3B7 | c.791C>T (p.Pro264Leu) c.*37C>T (n.*37C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30987865C>A | CA494920895 | HSD3B7 | c.792C>A (p.Pro264=) c.*38C>A (n.*38C>A) | |
16 | g.30987865C= | CA2216825136 | HSD3B7 | c.792C= (p.Pro264=) c.*38C= (n.*38C=) | |
16 | g.30987865C>G | CA494920896 | HSD3B7 | c.792C>G (p.Pro264=) c.*38C>G (n.*38C>G) | gnomAD v4 |
16 | g.30987865C>T | CA494920897 | HSD3B7 | c.792C>T (p.Pro264=) c.*38C>T (n.*38C>T) | dbSNP |
16 | g.30987866T>A | CA395642864 | HSD3B7 | c.793T>A (p.Tyr265Asn) c.*39T>A (n.*39T>A) | |
16 | g.30987866T>C | CA395642866 | HSD3B7 | c.793T>C (p.Tyr265His) c.*39T>C (n.*39T>C) | dbSNP |
16 | g.30987866T>G | CA395642868 | HSD3B7 | c.793T>G (p.Tyr265Asp) c.*39T>G (n.*39T>G) | |
16 | g.30987866T= | CA2216825139 | HSD3B7 | c.793T= (p.Tyr265=) c.*39T= (n.*39T=) | |
16 | g.30987867A>C | CA395642873 | HSD3B7 | c.794A>C (p.Tyr265Ser) c.*40A>C (n.*40A>C) | |
16 | g.30987867A>G | CA395642877 | HSD3B7 | c.794A>G (p.Tyr265Cys) c.*40A>G (n.*40A>G) | gnomAD v4 |
16 | g.30987867A>T | CA395642880 | HSD3B7 | c.794A>T (p.Tyr265Phe) c.*40A>T (n.*40A>T) |