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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986863G>A | CA494920320 | HSD3B7 | c.555G>A (p.Val185=) c.531+159G>A (n.531+159G>A) | |
| 16 | g.30986863G>C | CA494920322 | HSD3B7 | c.555G>C (p.Val185=) c.531+159G>C (n.531+159G>C) | |
| 16 | g.30986863G>T | CA494920321 | HSD3B7 | c.555G>T (p.Val185=) c.531+159G>T (n.531+159G>T) | |
| 16 | g.30986864A>C | CA395641171 | HSD3B7 | c.556A>C (p.Thr186Pro) c.531+160A>C (n.531+160A>C) | |
| 16 | g.30986864A>G | CA395641174 | HSD3B7 | c.556A>G (p.Thr186Ala) c.531+160A>G (n.531+160A>G) | |
| 16 | g.30986864A>T | CA395641176 | HSD3B7 | c.556A>T (p.Thr186Ser) c.531+160A>T (n.531+160A>T) | |
| 16 | g.30986865C>A | CA395641178 | HSD3B7 | c.557C>A (p.Thr186Lys) c.531+161C>A (n.531+161C>A) | |
| 16 | g.30986865C= | CA2216822875 | HSD3B7 | c.557C= (p.Thr186=) c.531+161C= (n.531+161C=) | |
| 16 | g.30986865C>G | CA395641180 | HSD3B7 | c.557C>G (p.Thr186Arg) c.531+161C>G (n.531+161C>G) | |
| 16 | g.30986865C>T | CA8018039 | HSD3B7 | c.557C>T (p.Thr186Met) c.531+161C>T (n.531+161C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986866G>A | CA8018040 | HSD3B7 | c.558G>A (p.Thr186=) c.531+162G>A (n.531+162G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986866G>C | CA494920323 | HSD3B7 | c.558G>C (p.Thr186=) c.531+162G>C (n.531+162G>C) | |
| 16 | g.30986866G= | CA2216822884 | HSD3B7 | c.558G= (p.Thr186=) c.531+162G= (n.531+162G=) | |
| 16 | g.30986866G>T | CA494920324 | HSD3B7 | c.558G>T (p.Thr186=) c.531+162G>T (n.531+162G>T) | |
| 16 | g.30986867T>A | CA395641185 | HSD3B7 | c.559T>A (p.Cys187Ser) c.531+163T>A (n.531+163T>A) | |
| 16 | g.30986867T>C | CA395641186 | HSD3B7 | c.559T>C (p.Cys187Arg) c.531+163T>C (n.531+163T>C) | |
| 16 | g.30986867T>G | CA395641189 | HSD3B7 | c.559T>G (p.Cys187Gly) c.531+163T>G (n.531+163T>G) | |
| 16 | g.30986868G>A | CA395641196 | HSD3B7 | c.560G>A (p.Cys187Tyr) c.531+164G>A (n.531+164G>A) | |
| 16 | g.30986868G>C | CA395641191 | HSD3B7 | c.560G>C (p.Cys187Ser) c.531+164G>C (n.531+164G>C) | |
| 16 | g.30986868G>T | CA395641193 | HSD3B7 | c.560G>T (p.Cys187Phe) c.531+164G>T (n.531+164G>T) | |
| 16 | g.30986869T>A | CA395641198 | HSD3B7 | c.561T>A (p.Cys187Ter) c.531+165T>A (n.531+165T>A) | |
| 16 | g.30986869T>C | CA494920325 | HSD3B7 | c.561T>C (p.Cys187=) c.531+165T>C (n.531+165T>C) | dbSNP |
| 16 | g.30986869T>G | CA395641202 | HSD3B7 | c.561T>G (p.Cys187Trp) c.531+165T>G (n.531+165T>G) | |
| 16 | g.30986869T= | CA2216822889 | HSD3B7 | c.561T= (p.Cys187=) c.531+165T= (n.531+165T=) | |
| 16 | g.30986870G>A | CA395641204 | HSD3B7 | c.562G>A (p.Ala188Thr) c.531+166G>A (n.531+166G>A) | |
| 16 | g.30986870G>C | CA395641205 | HSD3B7 | c.562G>C (p.Ala188Pro) c.531+166G>C (n.531+166G>C) | |
| 16 | g.30986870G>T | CA395641207 | HSD3B7 | c.562G>T (p.Ala188Ser) c.531+166G>T (n.531+166G>T) | |
| 16 | g.30986871C>A | CA395641212 | HSD3B7 | c.563C>A (p.Ala188Asp) c.531+167C>A (n.531+167C>A) | |
| 16 | g.30986871C>G | CA395641214 | HSD3B7 | c.563C>G (p.Ala188Gly) c.531+167C>G (n.531+167C>G) | |
| 16 | g.30986871C>T | CA395641216 | HSD3B7 | c.563C>T (p.Ala188Val) c.531+167C>T (n.531+167C>T) | gnomAD v4 |
| 16 | g.30986872C>A | CA494920326 | HSD3B7 | c.564C>A (p.Ala188=) c.531+168C>A (n.531+168C>A) | |
| 16 | g.30986872C>G | CA494920327 | HSD3B7 | c.564C>G (p.Ala188=) c.531+168C>G (n.531+168C>G) | |
| 16 | g.30986872C>T | CA494920328 | HSD3B7 | c.564C>T (p.Ala188=) c.531+168C>T (n.531+168C>T) | |
| 16 | g.30986873C>A | CA395641219 | HSD3B7 | c.565C>A (p.Leu189Ile) c.531+169C>A (n.531+169C>A) | |
| 16 | g.30986873C= | CA2216822894 | HSD3B7 | c.565C= (p.Leu189=) c.531+169C= (n.531+169C=) | |
| 16 | g.30986873C>G | CA395641221 | HSD3B7 | c.565C>G (p.Leu189Val) c.531+169C>G (n.531+169C>G) | |
| 16 | g.30986873C>T | CA395641222 | HSD3B7 | c.565C>T (p.Leu189Phe) c.531+169C>T (n.531+169C>T) | ClinVar dbSNP |
| 16 | g.30986874T>A | CA395641231 | HSD3B7 | c.566T>A (p.Leu189His) c.531+170T>A (n.531+170T>A) | |
| 16 | g.30986874T>C | CA395641227 | HSD3B7 | c.566T>C (p.Leu189Pro) c.531+170T>C (n.531+170T>C) | |
| 16 | g.30986874T>G | CA395641229 | HSD3B7 | c.566T>G (p.Leu189Arg) c.531+170T>G (n.531+170T>G) | |
| 16 | g.30986875T>A | CA494920329 | HSD3B7 | c.567T>A (p.Leu189=) c.531+171T>A (n.531+171T>A) | |
| 16 | g.30986875T>C | CA494920330 | HSD3B7 | c.567T>C (p.Leu189=) c.531+171T>C (n.531+171T>C) | |
| 16 | g.30986875T>G | CA494920331 | HSD3B7 | c.567T>G (p.Leu189=) c.531+171T>G (n.531+171T>G) | |
| 16 | g.30986876C>A | CA395641235 | HSD3B7 | c.568C>A (p.Arg190Ser) c.531+172C>A (n.531+172C>A) | |
| 16 | g.30986876C= | CA2216822900 | HSD3B7 | c.568C= (p.Arg190=) c.531+172C= (n.531+172C=) | |
| 16 | g.30986876C>G | CA395641239 | HSD3B7 | c.568C>G (p.Arg190Gly) c.531+172C>G (n.531+172C>G) | |
| 16 | g.30986876C>T | CA8018041 | HSD3B7 | c.568C>T (p.Arg190Cys) c.531+172C>T (n.531+172C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.30986877G>A | CA280562238 | HSD3B7 | c.569G>A (p.Arg190His) c.531+173G>A (n.531+173G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986877G>C | CA395641243 | HSD3B7 | c.569G>C (p.Arg190Pro) c.531+173G>C (n.531+173G>C) | |
| 16 | g.30986877G= | CA2216822927 | HSD3B7 | c.569G= (p.Arg190=) c.531+173G= (n.531+173G=) | |
| 16 | g.30986877G>T | CA8018042 | HSD3B7 | c.569G>T (p.Arg190Leu) c.531+173G>T (n.531+173G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.30986878T>A | CA494920334 | HSD3B7 | c.570T>A (p.Arg190=) c.531+174T>A (n.531+174T>A) | |
| 16 | g.30986878T>C | CA494920332 | HSD3B7 | c.570T>C (p.Arg190=) c.531+174T>C (n.531+174T>C) | |
| 16 | g.30986878T>G | CA494920333 | HSD3B7 | c.570T>G (p.Arg190=) c.531+174T>G (n.531+174T>G) | |
| 16 | g.30986879C>A | CA395641247 | HSD3B7 | c.571C>A (p.Pro191Thr) c.531+175C>A (n.531+175C>A) | |
| 16 | g.30986879C= | CA2216822936 | HSD3B7 | c.571C= (p.Pro191=) c.531+175C= (n.531+175C=) | |
| 16 | g.30986879C>G | CA8018043 | HSD3B7 | c.571C>G (p.Pro191Ala) c.531+175C>G (n.531+175C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986879C>T | CA395641250 | HSD3B7 | c.571C>T (p.Pro191Ser) c.531+175C>T (n.531+175C>T) | |
| 16 | g.30986880C>A | CA395641252 | HSD3B7 | c.572C>A (p.Pro191His) c.531+176C>A (n.531+176C>A) | |
| 16 | g.30986880C>G | CA395641255 | HSD3B7 | c.572C>G (p.Pro191Arg) c.531+176C>G (n.531+176C>G) | |
| 16 | g.30986880C>T | CA395641257 | HSD3B7 | c.572C>T (p.Pro191Leu) c.531+176C>T (n.531+176C>T) | |
| 16 | g.30986881C>A | CA494920335 | HSD3B7 | c.573C>A (p.Pro191=) c.531+177C>A (n.531+177C>A) | dbSNP |
| 16 | g.30986881C= | CA2216822941 | HSD3B7 | c.573C= (p.Pro191=) c.531+177C= (n.531+177C=) | |
| 16 | g.30986881C>G | CA494920336 | HSD3B7 | c.573C>G (p.Pro191=) c.531+177C>G (n.531+177C>G) | |
| 16 | g.30986881C>T | CA494920337 | HSD3B7 | c.573C>T (p.Pro191=) c.531+177C>T (n.531+177C>T) | |
| 16 | g.30986882A>C | CA395641260 | HSD3B7 | c.574A>C (p.Thr192Pro) c.531+178A>C (n.531+178A>C) | |
| 16 | g.30986882A>G | CA395641262 | HSD3B7 | c.574A>G (p.Thr192Ala) c.531+178A>G (n.531+178A>G) | |
| 16 | g.30986882A>T | CA395641267 | HSD3B7 | c.574A>T (p.Thr192Ser) c.531+178A>T (n.531+178A>T) | |
| 16 | g.30986883C>A | CA395641269 | HSD3B7 | c.575C>A (p.Thr192Lys) c.531+179C>A (n.531+179C>A) | |
| 16 | g.30986883C= | CA2216822944 | HSD3B7 | c.575C= (p.Thr192=) c.531+179C= (n.531+179C=) | |
| 16 | g.30986883C>G | CA395641271 | HSD3B7 | c.575C>G (p.Thr192Arg) c.531+179C>G (n.531+179C>G) | |
| 16 | g.30986883C>T | CA8018044 | HSD3B7 | c.575C>T (p.Thr192Met) c.531+179C>T (n.531+179C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986884G>A | CA8018045 | HSD3B7 | c.576G>A (p.Thr192=) c.531+180G>A (n.531+180G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986884G>C | CA494920338 | HSD3B7 | c.576G>C (p.Thr192=) c.531+180G>C (n.531+180G>C) | |
| 16 | g.30986884G= | CA2216822953 | HSD3B7 | c.576G= (p.Thr192=) c.531+180G= (n.531+180G=) | |
| 16 | g.30986884G>T | CA494920339 | HSD3B7 | c.576G>T (p.Thr192=) c.531+180G>T (n.531+180G>T) | gnomAD v4 |
| 16 | g.30986885G>A | CA395641280 | HSD3B7 | c.577G>A (p.Gly193Ser) c.531+181G>A (n.531+181G>A) | |
| 16 | g.30986885G>C | CA395641282 | HSD3B7 | c.577G>C (p.Gly193Arg) c.531+181G>C (n.531+181G>C) | |
| 16 | g.30986885G>T | CA395641283 | HSD3B7 | c.577G>T (p.Gly193Cys) c.531+181G>T (n.531+181G>T) | |
| 16 | g.30986886G>A | CA395641284 | HSD3B7 | c.578G>A (p.Gly193Asp) c.531+182G>A (n.531+182G>A) | |
| 16 | g.30986886G>C | CA395641285 | HSD3B7 | c.578G>C (p.Gly193Ala) c.531+182G>C (n.531+182G>C) | |
| 16 | g.30986886G>T | CA395641286 | HSD3B7 | c.578G>T (p.Gly193Val) c.531+182G>T (n.531+182G>T) | |
| 16 | g.30986887C>A | CA494920340 | HSD3B7 | c.579C>A (p.Gly193=) c.531+183C>A (n.531+183C>A) | |
| 16 | g.30986887C= | CA2216822958 | HSD3B7 | c.579C= (p.Gly193=) c.531+183C= (n.531+183C=) | |
| 16 | g.30986887C>G | CA494920341 | HSD3B7 | c.579C>G (p.Gly193=) c.531+183C>G (n.531+183C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986887C>T | CA494920342 | HSD3B7 | c.579C>T (p.Gly193=) c.531+183C>T (n.531+183C>T) | |
| 16 | g.30986888A= | CA2216822961 | HSD3B7 | c.580A= (p.Ile194=) c.531+184A= (n.531+184A=) | |
| 16 | g.30986888A>C | CA395641287 | HSD3B7 | c.580A>C (p.Ile194Leu) c.531+184A>C (n.531+184A>C) | |
| 16 | g.30986888A>G | CA8018046 | HSD3B7 | c.580A>G (p.Ile194Val) c.531+184A>G (n.531+184A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986888A>T | CA395641288 | HSD3B7 | c.580A>T (p.Ile194Phe) c.531+184A>T (n.531+184A>T) | |
| 16 | g.30986889T>A | CA395641290 | HSD3B7 | c.581T>A (p.Ile194Asn) c.531+185T>A (n.531+185T>A) | |
| 16 | g.30986889T>C | CA395641291 | HSD3B7 | c.581T>C (p.Ile194Thr) c.531+185T>C (n.531+185T>C) | |
| 16 | g.30986889T>G | CA395641293 | HSD3B7 | c.581T>G (p.Ile194Ser) c.531+185T>G (n.531+185T>G) | |
| 16 | g.30986890C>A | CA494920343 | HSD3B7 | c.582C>A (p.Ile194=) c.531+186C>A (n.531+186C>A) | |
| 16 | g.30986890C>G | CA395641295 | HSD3B7 | c.582C>G (p.Ile194Met) c.531+186C>G (n.531+186C>G) | |
| 16 | g.30986890C>T | CA494920344 | HSD3B7 | c.582C>T (p.Ile194=) c.531+186C>T (n.531+186C>T) | gnomAD v4 |
| 16 | g.30986891T>A | CA395641298 | HSD3B7 | c.583T>A (p.Tyr195Asn) c.531+187T>A (n.531+187T>A) | |
| 16 | g.30986891T>C | CA395641302 | HSD3B7 | c.583T>C (p.Tyr195His) c.531+187T>C (n.531+187T>C) | |
| 16 | g.30986891T>G | CA395641299 | HSD3B7 | c.583T>G (p.Tyr195Asp) c.531+187T>G (n.531+187T>G) | |
| 16 | g.30986892A= | CA2216822963 | HSD3B7 | c.584A= (p.Tyr195=) c.531+188A= (n.531+188A=) | |
| 16 | g.30986892A>C | CA395641305 | HSD3B7 | c.584A>C (p.Tyr195Ser) c.531+188A>C (n.531+188A>C) | |
| 16 | g.30986892A>G | CA395641308 | HSD3B7 | c.584A>G (p.Tyr195Cys) c.531+188A>G (n.531+188A>G) | gnomAD v4 |
| 16 | g.30986892A>T | CA395641310 | HSD3B7 | c.584A>T (p.Tyr195Phe) c.531+188A>T (n.531+188A>T) | dbSNP |
| 16 | g.30986893_30986907del | CA2575973612 | HSD3B7 | c.585_599del (p.Tyr195Ter) c.531+189_531+203del (n.531+189_531+203del) | |
| 16 | g.30986893C>A | CA395641313 | HSD3B7 | c.585C>A (p.Tyr195Ter) c.531+189C>A (n.531+189C>A) | gnomAD v4 |
| 16 | g.30986893C= | CA2216822966 | HSD3B7 | c.585C= (p.Tyr195=) c.531+189C= (n.531+189C=) | |
| 16 | g.30986893C>G | CA395641315 | HSD3B7 | c.585C>G (p.Tyr195Ter) c.531+189C>G (n.531+189C>G) | |
| 16 | g.30986893C>T | CA8018047 | HSD3B7 | c.585C>T (p.Tyr195=) c.531+189C>T (n.531+189C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.30986894G>A | CA10606754 | HSD3B7 | c.586G>A (p.Gly196Ser) c.531+190G>A (n.531+190G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.30986894G>C | CA395641321 | HSD3B7 | c.586G>C (p.Gly196Arg) c.531+190G>C (n.531+190G>C) | gnomAD v4 |
| 16 | g.30986894G= | CA2216822977 | HSD3B7 | c.586G= (p.Gly196=) c.531+190G= (n.531+190G=) | |
| 16 | g.30986894G>T | CA395641324 | HSD3B7 | c.586G>T (p.Gly196Cys) c.531+190G>T (n.531+190G>T) | |
| 16 | g.30986895G>A | CA395641326 | HSD3B7 | c.587G>A (p.Gly196Asp) c.531+191G>A (n.531+191G>A) | gnomAD v4 COSMIC |
| 16 | g.30986895G>C | CA395641328 | HSD3B7 | c.587G>C (p.Gly196Ala) c.531+191G>C (n.531+191G>C) | |
| 16 | g.30986895G>T | CA395641331 | HSD3B7 | c.587G>T (p.Gly196Val) c.531+191G>T (n.531+191G>T) | COSMIC |
| 16 | g.30986896T>A | CA494920345 | HSD3B7 | c.588T>A (p.Gly196=) c.531+192T>A (n.531+192T>A) | |
| 16 | g.30986896T>C | CA494920346 | HSD3B7 | c.588T>C (p.Gly196=) c.531+192T>C (n.531+192T>C) | |
| 16 | g.30986896T>G | CA494920347 | HSD3B7 | c.588T>G (p.Gly196=) c.531+192T>G (n.531+192T>G) | |
| 16 | g.30986897G>A | CA395641338 | HSD3B7 | c.589G>A (p.Glu197Lys) c.531+193G>A (n.531+193G>A) | |
| 16 | g.30986897G>C | CA395641334 | HSD3B7 | c.589G>C (p.Glu197Gln) c.531+193G>C (n.531+193G>C) | |
| 16 | g.30986897G>T | CA395641336 | HSD3B7 | c.589G>T (p.Glu197Ter) c.531+193G>T (n.531+193G>T) | |
| 16 | g.30986898A>C | CA395641340 | HSD3B7 | c.590A>C (p.Glu197Ala) c.531+194A>C (n.531+194A>C) | |
| 16 | g.30986898A>G | CA395641343 | HSD3B7 | c.590A>G (p.Glu197Gly) c.531+194A>G (n.531+194A>G) | |
| 16 | g.30986898A>T | CA395641345 | HSD3B7 | c.590A>T (p.Glu197Val) c.531+194A>T (n.531+194A>T) | |
| 16 | g.30986899A>C | CA395641348 | HSD3B7 | c.591A>C (p.Glu197Asp) c.531+195A>C (n.531+195A>C) | COSMIC |
| 16 | g.30986899A>G | CA494920348 | HSD3B7 | c.591A>G (p.Glu197=) c.531+195A>G (n.531+195A>G) | |
| 16 | g.30986899A>T | CA395641349 | HSD3B7 | c.591A>T (p.Glu197Asp) c.531+195A>T (n.531+195A>T) | |
| 16 | g.30986900G>A | CA8018048 | HSD3B7 | c.592G>A (p.Gly198Ser) c.531+196G>A (n.531+196G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986900G>C | CA395641352 | HSD3B7 | c.592G>C (p.Gly198Arg) c.531+196G>C (n.531+196G>C) | |
| 16 | g.30986900G= | CA2216822982 | HSD3B7 | c.592G= (p.Gly198=) c.531+196G= (n.531+196G=) | |
| 16 | g.30986900G>T | CA395641355 | HSD3B7 | c.592G>T (p.Gly198Cys) c.531+196G>T (n.531+196G>T) | |
| 16 | g.30986901G>A | CA395641357 | HSD3B7 | c.593G>A (p.Gly198Asp) c.531+197G>A (n.531+197G>A) | ClinVar |
| 16 | g.30986901G>C | CA395641359 | HSD3B7 | c.593G>C (p.Gly198Ala) c.531+197G>C (n.531+197G>C) | gnomAD v4 |
| 16 | g.30986901G>T | CA395641362 | HSD3B7 | c.593G>T (p.Gly198Val) c.531+197G>T (n.531+197G>T) | gnomAD v4 |
| 16 | g.30986902C>A | CA494920349 | HSD3B7 | c.594C>A (p.Gly198=) c.531+198C>A (n.531+198C>A) | |
| 16 | g.30986902C= | CA2216822994 | HSD3B7 | c.594C= (p.Gly198=) c.531+198C= (n.531+198C=) | |
| 16 | g.30986902C>G | CA494920350 | HSD3B7 | c.594C>G (p.Gly198=) c.531+198C>G (n.531+198C>G) | |
| 16 | g.30986902C>T | CA494920351 | HSD3B7 | c.594C>T (p.Gly198=) c.531+198C>T (n.531+198C>T) | dbSNP |
| 16 | g.30986903C>A | CA395641367 | HSD3B7 | c.595C>A (p.His199Asn) c.531+199C>A (n.531+199C>A) | |
| 16 | g.30986903C= | CA2216823001 | HSD3B7 | c.595C= (p.His199=) c.531+199C= (n.531+199C=) | |
| 16 | g.30986903C>G | CA395641365 | HSD3B7 | c.595C>G (p.His199Asp) c.531+199C>G (n.531+199C>G) | |
| 16 | g.30986903C>T | CA8018049 | HSD3B7 | c.595C>T (p.His199Tyr) c.531+199C>T (n.531+199C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986904A= | CA2216823006 | HSD3B7 | c.596A= (p.His199=) c.531+200A= (n.531+200A=) | |
| 16 | g.30986904A>C | CA395641375 | HSD3B7 | c.596A>C (p.His199Pro) c.531+200A>C (n.531+200A>C) | |
| 16 | g.30986904A>G | CA395641370 | HSD3B7 | c.596A>G (p.His199Arg) c.531+200A>G (n.531+200A>G) | |
| 16 | g.30986904A>T | CA8018050 | HSD3B7 | c.596A>T (p.His199Leu) c.531+200A>T (n.531+200A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986905C>A | CA395641378 | HSD3B7 | c.597C>A (p.His199Gln) c.531+201C>A (n.531+201C>A) | |
| 16 | g.30986905C>G | CA395641380 | HSD3B7 | c.597C>G (p.His199Gln) c.531+201C>G (n.531+201C>G) | |
| 16 | g.30986905C>T | CA494920352 | HSD3B7 | c.597C>T (p.His199=) c.531+201C>T (n.531+201C>T) | gnomAD v4 |
| 16 | g.30986906C>A | CA395641384 | HSD3B7 | c.598C>A (p.Gln200Lys) c.531+202C>A (n.531+202C>A) | |
| 16 | g.30986906C>G | CA395641386 | HSD3B7 | c.598C>G (p.Gln200Glu) c.531+202C>G (n.531+202C>G) | |
| 16 | g.30986906C>T | CA395641388 | HSD3B7 | c.598C>T (p.Gln200Ter) c.531+202C>T (n.531+202C>T) | gnomAD v4 |
| 16 | g.30986907A>C | CA395641394 | HSD3B7 | c.599A>C (p.Gln200Pro) c.531+203A>C (n.531+203A>C) | |
| 16 | g.30986907A>G | CA395641390 | HSD3B7 | c.599A>G (p.Gln200Arg) c.531+203A>G (n.531+203A>G) | |
| 16 | g.30986907A>T | CA395641393 | HSD3B7 | c.599A>T (p.Gln200Leu) c.531+203A>T (n.531+203A>T) | |
| 16 | g.30986908G>A | CA280562287 | HSD3B7 | c.600G>A (p.Gln200=) c.531+204G>A (n.531+204G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986908G>C | CA395641397 | HSD3B7 | c.600G>C (p.Gln200His) c.531+204G>C (n.531+204G>C) | |
| 16 | g.30986908G= | CA2216823011 | HSD3B7 | c.600G= (p.Gln200=) c.531+204G= (n.531+204G=) | |
| 16 | g.30986908G>T | CA395641400 | HSD3B7 | c.600G>T (p.Gln200His) c.531+204G>T (n.531+204G>T) | dbSNP |
| 16 | g.30986909A>C | CA395641403 | HSD3B7 | c.601A>C (p.Ile201Leu) c.531+205A>C (n.531+205A>C) | |
| 16 | g.30986909A>G | CA395641404 | HSD3B7 | c.601A>G (p.Ile201Val) c.531+205A>G (n.531+205A>G) | |
| 16 | g.30986909A>T | CA395641405 | HSD3B7 | c.601A>T (p.Ile201Phe) c.531+205A>T (n.531+205A>T) | |
| 16 | g.30986910T>A | CA395641409 | HSD3B7 | c.602T>A (p.Ile201Asn) c.531+206T>A (n.531+206T>A) | |
| 16 | g.30986910T>C | CA395641413 | HSD3B7 | c.602T>C (p.Ile201Thr) c.531+206T>C (n.531+206T>C) | |
| 16 | g.30986910T>G | CA395641412 | HSD3B7 | c.602T>G (p.Ile201Ser) c.531+206T>G (n.531+206T>G) | COSMIC |
| 16 | g.30986911C>A | CA494920353 | HSD3B7 | c.603C>A (p.Ile201=) c.531+207C>A (n.531+207C>A) | |
| 16 | g.30986911C>G | CA395641415 | HSD3B7 | c.603C>G (p.Ile201Met) c.531+207C>G (n.531+207C>G) | |
| 16 | g.30986911C>T | CA494920354 | HSD3B7 | c.603C>T (p.Ile201=) c.531+207C>T (n.531+207C>T) | gnomAD v4 |
| 16 | g.30986912A>C | CA395641418 | HSD3B7 | c.604A>C (p.Met202Leu) c.531+208A>C (n.531+208A>C) | |
| 16 | g.30986912A>G | CA395641421 | HSD3B7 | c.604A>G (p.Met202Val) c.531+208A>G (n.531+208A>G) | gnomAD v4 COSMIC |
| 16 | g.30986912A>T | CA395641424 | HSD3B7 | c.604A>T (p.Met202Leu) c.531+208A>T (n.531+208A>T) | |
| 16 | g.30986913T>A | CA395641428 | HSD3B7 | c.605T>A (p.Met202Lys) c.531+209T>A (n.531+209T>A) | |
| 16 | g.30986913T>C | CA395641435 | HSD3B7 | c.605T>C (p.Met202Thr) c.531+209T>C (n.531+209T>C) | |
| 16 | g.30986913T>G | CA395641437 | HSD3B7 | c.605T>G (p.Met202Arg) c.531+209T>G (n.531+209T>G) | |
| 16 | g.30986914G>A | CA280562291 | HSD3B7 | c.606G>A (p.Met202Ile) c.531+210G>A (n.531+210G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986914G>C | CA395641442 | HSD3B7 | c.606G>C (p.Met202Ile) c.531+210G>C (n.531+210G>C) | |
| 16 | g.30986914G= | CA2216823017 | HSD3B7 | c.606G= (p.Met202=) c.531+210G= (n.531+210G=) | |
| 16 | g.30986914G>T | CA395641445 | HSD3B7 | c.606G>T (p.Met202Ile) c.531+210G>T (n.531+210G>T) | |
| 16 | g.30986915A>C | CA494920355 | HSD3B7 | c.607A>C (p.Arg203=) c.531+211A>C (n.531+211A>C) | |
| 16 | g.30986915A>G | CA395641448 | HSD3B7 | c.607A>G (p.Arg203Gly) c.531+211A>G (n.531+211A>G) | |
| 16 | g.30986915A>T | CA395641449 | HSD3B7 | c.607A>T (p.Arg203Trp) c.531+211A>T (n.531+211A>T) | |
| 16 | g.30986916G>A | CA8018051 | HSD3B7 | c.608G>A (p.Arg203Lys) c.531+212G>A (n.531+212G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986916G>C | CA395641458 | HSD3B7 | c.608G>C (p.Arg203Thr) c.531+212G>C (n.531+212G>C) | |
| 16 | g.30986916G= | CA2216823024 | HSD3B7 | c.608G= (p.Arg203=) c.531+212G= (n.531+212G=) | |
| 16 | g.30986916G>T | CA395641457 | HSD3B7 | c.608G>T (p.Arg203Met) c.531+212G>T (n.531+212G>T) | |
| 16 | g.30986917G>A | CA494920356 | HSD3B7 | c.609G>A (p.Arg203=) c.531+213G>A (n.531+213G>A) | |
| 16 | g.30986917G>C | CA395641460 | HSD3B7 | c.609G>C (p.Arg203Ser) c.531+213G>C (n.531+213G>C) | |
| 16 | g.30986917G>T | CA395641462 | HSD3B7 | c.609G>T (p.Arg203Ser) c.531+213G>T (n.531+213G>T) | |
| 16 | g.30986918G>A | CA395641471 | HSD3B7 | c.610G>A (p.Asp204Asn) c.531+214G>A (n.531+214G>A) | |
| 16 | g.30986918G>C | CA395641474 | HSD3B7 | c.610G>C (p.Asp204His) c.531+214G>C (n.531+214G>C) | |
| 16 | g.30986918G>T | CA395641476 | HSD3B7 | c.610G>T (p.Asp204Tyr) c.531+214G>T (n.531+214G>T) | |
| 16 | g.30986919del | CA912995715 | HSD3B7 | c.611del (p.Asp204AlafsTer?) c.531+215del (n.531+215del) | ClinVar gnomAD v4 |
| 16 | g.30986919A>C | CA395641478 | HSD3B7 | c.611A>C (p.Asp204Ala) c.531+215A>C (n.531+215A>C) | |
| 16 | g.30986919A>G | CA395641480 | HSD3B7 | c.611A>G (p.Asp204Gly) c.531+215A>G (n.531+215A>G) | gnomAD v4 |
| 16 | g.30986919A>T | CA395641482 | HSD3B7 | c.611A>T (p.Asp204Val) c.531+215A>T (n.531+215A>T) | |
| 16 | g.30986920C>A | CA395641486 | HSD3B7 | c.612C>A (p.Asp204Glu) c.531+216C>A (n.531+216C>A) | |
| 16 | g.30986920C>G | CA395641488 | HSD3B7 | c.612C>G (p.Asp204Glu) c.531+216C>G (n.531+216C>G) | |
| 16 | g.30986920C>T | CA494920357 | HSD3B7 | c.612C>T (p.Asp204=) c.531+216C>T (n.531+216C>T) | |
| 16 | g.30986921T>A | CA395641493 | HSD3B7 | c.613T>A (p.Phe205Ile) c.531+217T>A (n.531+217T>A) | |
| 16 | g.30986921T>C | CA395641494 | HSD3B7 | c.613T>C (p.Phe205Leu) c.531+217T>C (n.531+217T>C) | dbSNP gnomAD v4 |
| 16 | g.30986921T>G | CA395641497 | HSD3B7 | c.613T>G (p.Phe205Val) c.531+217T>G (n.531+217T>G) | |
| 16 | g.30986921T= | CA2216823032 | HSD3B7 | c.613T= (p.Phe205=) c.531+217T= (n.531+217T=) | |
| 16 | g.30986922T>A | CA395641501 | HSD3B7 | c.614T>A (p.Phe205Tyr) c.531+218T>A (n.531+218T>A) | |
| 16 | g.30986922T>C | CA395641504 | HSD3B7 | c.614T>C (p.Phe205Ser) c.531+218T>C (n.531+218T>C) | |
| 16 | g.30986922T>G | CA395641503 | HSD3B7 | c.614T>G (p.Phe205Cys) c.531+218T>G (n.531+218T>G) | |
| 16 | g.30986923C>A | CA395641505 | HSD3B7 | c.615C>A (p.Phe205Leu) c.531+219C>A (n.531+219C>A) | COSMIC |
| 16 | g.30986923C>G | CA395641506 | HSD3B7 | c.615C>G (p.Phe205Leu) c.531+219C>G (n.531+219C>G) | |
| 16 | g.30986923C>T | CA494920358 | HSD3B7 | c.615C>T (p.Phe205=) c.531+219C>T (n.531+219C>T) | |
| 16 | g.30986924T>A | CA395641509 | HSD3B7 | c.616T>A (p.Tyr206Asn) c.531+220T>A (n.531+220T>A) | |
| 16 | g.30986924T>C | CA395641512 | HSD3B7 | c.616T>C (p.Tyr206His) c.531+220T>C (n.531+220T>C) | |
| 16 | g.30986924T>G | CA395641514 | HSD3B7 | c.616T>G (p.Tyr206Asp) c.531+220T>G (n.531+220T>G) | |
| 16 | g.30986925A>C | CA395641517 | HSD3B7 | c.617A>C (p.Tyr206Ser) c.531+221A>C (n.531+221A>C) | dbSNP |
| 16 | g.30986925A>G | CA395641520 | HSD3B7 | c.617A>G (p.Tyr206Cys) c.531+221A>G (n.531+221A>G) | |
| 16 | g.30986925A>T | CA395641523 | HSD3B7 | c.617A>T (p.Tyr206Phe) c.531+221A>T (n.531+221A>T) | |
| 16 | g.30986926C>A | CA395641524 | HSD3B7 | c.618C>A (p.Tyr206Ter) c.531+222C>A (n.531+222C>A) | dbSNP |
| 16 | g.30986926C= | CA2216823033 | HSD3B7 | c.618C= (p.Tyr206=) c.531+222C= (n.531+222C=) | |
| 16 | g.30986926C>G | CA395641526 | HSD3B7 | c.618C>G (p.Tyr206Ter) c.531+222C>G (n.531+222C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986926C>T | CA8018052 | HSD3B7 | c.618C>T (p.Tyr206=) c.531+222C>T (n.531+222C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986927C>A | CA395641533 | HSD3B7 | c.619C>A (p.Arg207Ser) c.531+223C>A (n.531+223C>A) | |
| 16 | g.30986927C= | CA2216823035 | HSD3B7 | c.619C= (p.Arg207=) c.531+223C= (n.531+223C=) | |
| 16 | g.30986927C>G | CA395641535 | HSD3B7 | c.619C>G (p.Arg207Gly) c.531+223C>G (n.531+223C>G) | dbSNP gnomAD v2 |
| 16 | g.30986927C>T | CA8018053 | HSD3B7 | c.619C>T (p.Arg207Cys) c.531+223C>T (n.531+223C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986928G>A | CA280562310 | HSD3B7 | c.620G>A (p.Arg207His) c.531+224G>A (n.531+224G>A) | dbSNP gnomAD v4 |
| 16 | g.30986928G>C | CA395641546 | HSD3B7 | c.620G>C (p.Arg207Pro) c.531+224G>C (n.531+224G>C) | |
| 16 | g.30986928G= | CA2216823049 | HSD3B7 | c.620G= (p.Arg207=) c.531+224G= (n.531+224G=) | |
| 16 | g.30986928G>T | CA395641544 | HSD3B7 | c.620G>T (p.Arg207Leu) c.531+224G>T (n.531+224G>T) | |
| 16 | g.30986929C>A | CA494920361 | HSD3B7 | c.621C>A (p.Arg207=) c.531+225C>A (n.531+225C>A) | |
| 16 | g.30986929C>G | CA494920360 | HSD3B7 | c.621C>G (p.Arg207=) c.531+225C>G (n.531+225C>G) | |
| 16 | g.30986929C>T | CA494920359 | HSD3B7 | c.621C>T (p.Arg207=) c.531+225C>T (n.531+225C>T) | |
| 16 | g.30986930C>A | CA395641548 | HSD3B7 | c.622C>A (p.Gln208Lys) c.531+226C>A (n.531+226C>A) | |
| 16 | g.30986930C>G | CA395641553 | HSD3B7 | c.622C>G (p.Gln208Glu) c.531+226C>G (n.531+226C>G) | |
| 16 | g.30986930C>T | CA395641550 | HSD3B7 | c.622C>T (p.Gln208Ter) c.531+226C>T (n.531+226C>T) | |
| 16 | g.30986931A>C | CA395641556 | HSD3B7 | c.623A>C (p.Gln208Pro) c.531+227A>C (n.531+227A>C) | |
| 16 | g.30986931A>G | CA395641559 | HSD3B7 | c.623A>G (p.Gln208Arg) c.531+227A>G (n.531+227A>G) | |
| 16 | g.30986931A>T | CA395641563 | HSD3B7 | c.623A>T (p.Gln208Leu) c.531+227A>T (n.531+227A>T) | |
| 16 | g.30986932G>A | CA494920362 | HSD3B7 | c.624G>A (p.Gln208=) c.531+228G>A (n.531+228G>A) | |
| 16 | g.30986932G>C | CA395641566 | HSD3B7 | c.624G>C (p.Gln208His) c.531+228G>C (n.531+228G>C) | |
| 16 | g.30986932G>T | CA395641568 | HSD3B7 | c.624G>T (p.Gln208His) c.531+228G>T (n.531+228G>T) | |
| 16 | g.30986933G>A | CA395641570 | HSD3B7 | c.625G>A (p.Gly209Ser) c.531+229G>A (n.531+229G>A) | |
| 16 | g.30986933G>C | CA395641573 | HSD3B7 | c.625G>C (p.Gly209Arg) c.531+229G>C (n.531+229G>C) | |
| 16 | g.30986933G>T | CA395641579 | HSD3B7 | c.625G>T (p.Gly209Cys) c.531+229G>T (n.531+229G>T) | |
| 16 | g.30986934G>A | CA395641584 | HSD3B7 | c.626G>A (p.Gly209Asp) c.531+230G>A (n.531+230G>A) | |
| 16 | g.30986934G>C | CA395641586 | HSD3B7 | c.626G>C (p.Gly209Ala) c.531+230G>C (n.531+230G>C) | |
| 16 | g.30986934G>T | CA395641588 | HSD3B7 | c.626G>T (p.Gly209Val) c.531+230G>T (n.531+230G>T) | |
| 16 | g.30986935C>A | CA494920363 | HSD3B7 | c.627C>A (p.Gly209=) c.531+231C>A (n.531+231C>A) | |
| 16 | g.30986935C>G | CA494920364 | HSD3B7 | c.627C>G (p.Gly209=) c.531+231C>G (n.531+231C>G) | |
| 16 | g.30986935C>T | CA494920365 | HSD3B7 | c.627C>T (p.Gly209=) c.531+231C>T (n.531+231C>T) | gnomAD v4 |
| 16 | g.30986936C>A | CA395641593 | HSD3B7 | c.628C>A (p.Leu210Met) c.531+232C>A (n.531+232C>A) | |
| 16 | g.30986936C>G | CA395641591 | HSD3B7 | c.628C>G (p.Leu210Val) c.531+232C>G (n.531+232C>G) | |
| 16 | g.30986936C>T | CA494920366 | HSD3B7 | c.628C>T (p.Leu210=) c.531+232C>T (n.531+232C>T) | |
| 16 | g.30986937T>A | CA395641596 | HSD3B7 | c.629T>A (p.Leu210Gln) c.531+233T>A (n.531+233T>A) | |
| 16 | g.30986937T>C | CA395641599 | HSD3B7 | c.629T>C (p.Leu210Pro) c.531+233T>C (n.531+233T>C) | |
| 16 | g.30986937T>G | CA395641602 | HSD3B7 | c.629T>G (p.Leu210Arg) c.531+233T>G (n.531+233T>G) | |
| 16 | g.30986938G>A | CA8018054 | HSD3B7 | c.630G>A (p.Leu210=) c.531+234G>A (n.531+234G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986938G>C | CA494920367 | HSD3B7 | c.630G>C (p.Leu210=) c.531+234G>C (n.531+234G>C) | |
| 16 | g.30986938G= | CA2216823056 | HSD3B7 | c.630G= (p.Leu210=) c.531+234G= (n.531+234G=) | |
| 16 | g.30986938G>T | CA494920368 | HSD3B7 | c.630G>T (p.Leu210=) c.531+234G>T (n.531+234G>T) | |
| 16 | g.30986939C>A | CA395641607 | HSD3B7 | c.631C>A (p.Arg211Ser) c.531+235C>A (n.531+235C>A) | |
| 16 | g.30986939C= | CA2216823064 | HSD3B7 | c.631C= (p.Arg211=) c.531+235C= (n.531+235C=) | |
| 16 | g.30986939C>G | CA395641609 | HSD3B7 | c.631C>G (p.Arg211Gly) c.531+235C>G (n.531+235C>G) | |
| 16 | g.30986939C>T | CA8018055 | HSD3B7 | c.631C>T (p.Arg211Cys) c.531+235C>T (n.531+235C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986940G>A | CA8018056 | HSD3B7 | c.632G>A (p.Arg211His) c.531+236G>A (n.531+236G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986940G>C | CA395641613 | HSD3B7 | c.632G>C (p.Arg211Pro) c.531+236G>C (n.531+236G>C) | gnomAD v4 |
| 16 | g.30986940G= | CA2216823078 | HSD3B7 | c.632G= (p.Arg211=) c.531+236G= (n.531+236G=) | |
| 16 | g.30986940G>T | CA395641616 | HSD3B7 | c.632G>T (p.Arg211Leu) c.531+236G>T (n.531+236G>T) | dbSNP |
| 16 | g.30986941C>A | CA494920369 | HSD3B7 | c.633C>A (p.Arg211=) c.531+237C>A (n.531+237C>A) | |
| 16 | g.30986941C>G | CA494920370 | HSD3B7 | c.633C>G (p.Arg211=) c.531+237C>G (n.531+237C>G) | |
| 16 | g.30986941C>T | CA494920371 | HSD3B7 | c.633C>T (p.Arg211=) c.531+237C>T (n.531+237C>T) | |
| 16 | g.30986942C>A | CA395641619 | HSD3B7 | c.634C>A (p.Leu212Met) c.531+238C>A (n.531+238C>A) | |
| 16 | g.30986942C= | CA2216823084 | HSD3B7 | c.634C= (p.Leu212=) c.531+238C= (n.531+238C=) | |
| 16 | g.30986942C>G | CA395641622 | HSD3B7 | c.634C>G (p.Leu212Val) c.531+238C>G (n.531+238C>G) | dbSNP gnomAD v4 |
| 16 | g.30986942C>T | CA494920372 | HSD3B7 | c.634C>T (p.Leu212=) c.531+238C>T (n.531+238C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986943T>A | CA395641631 | HSD3B7 | c.635T>A (p.Leu212Gln) c.531+239T>A (n.531+239T>A) | |
| 16 | g.30986943T>C | CA395641633 | HSD3B7 | c.635T>C (p.Leu212Pro) c.531+239T>C (n.531+239T>C) | |
| 16 | g.30986943T>G | CA395641629 | HSD3B7 | c.635T>G (p.Leu212Arg) c.531+239T>G (n.531+239T>G) | |
| 16 | g.30986944G>A | CA8018057 | HSD3B7 | c.636G>A (p.Leu212=) c.531+240G>A (n.531+240G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986944G>C | CA494920373 | HSD3B7 | c.636G>C (p.Leu212=) c.531+240G>C (n.531+240G>C) | |
| 16 | g.30986944G= | CA2216823087 | HSD3B7 | c.636G= (p.Leu212=) c.531+240G= (n.531+240G=) | |
| 16 | g.30986944G>T | CA494920374 | HSD3B7 | c.636G>T (p.Leu212=) c.531+240G>T (n.531+240G>T) | |
| 16 | g.30986945G>A | CA246819 | HSD3B7 | c.637G>A (p.Gly213Arg) c.531+241G>A (n.531+241G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986945G>C | CA395641641 | HSD3B7 | c.637G>C (p.Gly213Arg) c.531+241G>C (n.531+241G>C) | |
| 16 | g.30986945G= | CA2216823095 | HSD3B7 | c.637G= (p.Gly213=) c.531+241G= (n.531+241G=) | |
| 16 | g.30986945G>T | CA395641644 | HSD3B7 | c.637G>T (p.Gly213Ter) c.531+241G>T (n.531+241G>T) | |
| 16 | g.30986946G>A | CA395641647 | HSD3B7 | c.638G>A (p.Gly213Glu) c.531+242G>A (n.531+242G>A) | |
| 16 | g.30986946G>C | CA395641650 | HSD3B7 | c.638G>C (p.Gly213Ala) c.531+242G>C (n.531+242G>C) | |
| 16 | g.30986946G>T | CA395641652 | HSD3B7 | c.638G>T (p.Gly213Val) c.531+242G>T (n.531+242G>T) | |
| 16 | g.30986947A= | CA2216823106 | HSD3B7 | c.639A= (p.Gly213=) c.531+243A= (n.531+243A=) | |
| 16 | g.30986947A>C | CA494920375 | HSD3B7 | c.639A>C (p.Gly213=) c.531+243A>C (n.531+243A>C) | dbSNP gnomAD v4 |
| 16 | g.30986947A>G | CA494920377 | HSD3B7 | c.639A>G (p.Gly213=) c.531+243A>G (n.531+243A>G) | |
| 16 | g.30986947A>T | CA494920376 | HSD3B7 | c.639A>T (p.Gly213=) c.531+243A>T (n.531+243A>T) | |
| 16 | g.30986948G>A | CA8018058 | HSD3B7 | c.640G>A (p.Gly214Ser) c.531+244G>A (n.531+244G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986948G>C | CA395641657 | HSD3B7 | c.640G>C (p.Gly214Arg) c.531+244G>C (n.531+244G>C) | |
| 16 | g.30986948G= | CA2216823112 | HSD3B7 | c.640G= (p.Gly214=) c.531+244G= (n.531+244G=) | |
| 16 | g.30986948G>T | CA395641660 | HSD3B7 | c.640G>T (p.Gly214Cys) c.531+244G>T (n.531+244G>T) | |
| 16 | g.30986949G>A | CA395641663 | HSD3B7 | c.641G>A (p.Gly214Asp) c.531+245G>A (n.531+245G>A) | |
| 16 | g.30986949G>C | CA395641666 | HSD3B7 | c.641G>C (p.Gly214Ala) c.531+245G>C (n.531+245G>C) | |
| 16 | g.30986949G>T | CA395641668 | HSD3B7 | c.641G>T (p.Gly214Val) c.531+245G>T (n.531+245G>T) | gnomAD v4 |
| 16 | g.30986950T>A | CA494920378 | HSD3B7 | c.642T>A (p.Gly214=) c.531+246T>A (n.531+246T>A) | |
| 16 | g.30986950T>C | CA494920379 | HSD3B7 | c.642T>C (p.Gly214=) c.531+246T>C (n.531+246T>C) | |
| 16 | g.30986950T>G | CA494920380 | HSD3B7 | c.642T>G (p.Gly214=) c.531+246T>G (n.531+246T>G) | |
| 16 | g.30986951T>A | CA395641677 | HSD3B7 | c.643T>A (p.Trp215Arg) c.531+247T>A (n.531+247T>A) | |
| 16 | g.30986951T>C | CA395641675 | HSD3B7 | c.643T>C (p.Trp215Arg) c.531+247T>C (n.531+247T>C) | |
| 16 | g.30986951T>G | CA395641673 | HSD3B7 | c.643T>G (p.Trp215Gly) c.531+247T>G (n.531+247T>G) | |
| 16 | g.30986951_30986952delinsTG | CA2216823120 | HSD3B7 | c.643_644delinsTG (p.Trp215=) c.531+247_531+248delinsTG (n.531+247_531+248delinsTG) | |
| 16 | g.30986952G>A | CA395641680 | HSD3B7 | c.644G>A (p.Trp215Ter) c.531+248G>A (n.531+248G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986952G>C | CA395641682 | HSD3B7 | c.644G>C (p.Trp215Ser) c.531+248G>C (n.531+248G>C) | |
| 16 | g.30986952G= | CA2216823122 | HSD3B7 | c.644G= (p.Trp215=) c.531+248G= (n.531+248G=) | |
| 16 | g.30986952G>T | CA395641683 | HSD3B7 | c.644G>T (p.Trp215Leu) c.531+248G>T (n.531+248G>T) | |
| 16 | g.30986953del | CA8018059 | HSD3B7 | c.645del (p.Trp215CysfsTer?) c.531+249del (n.531+249del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986953G>A | CA8018060 | HSD3B7 | c.645G>A (p.Trp215Ter) c.531+249G>A (n.531+249G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986953G>C | CA395641684 | HSD3B7 | c.645G>C (p.Trp215Cys) c.531+249G>C (n.531+249G>C) | |
| 16 | g.30986953G= | CA2216823132 | HSD3B7 | c.645G= (p.Trp215=) c.531+249G= (n.531+249G=) | |
| 16 | g.30986953G>T | CA395641685 | HSD3B7 | c.645G>T (p.Trp215Cys) c.531+249G>T (n.531+249G>T) | |
| 16 | g.30986954C>A | CA395641686 | HSD3B7 | c.646C>A (p.Leu216Ile) c.531+250C>A (n.531+250C>A) | |
| 16 | g.30986954C>G | CA395641687 | HSD3B7 | c.646C>G (p.Leu216Val) c.531+250C>G (n.531+250C>G) | |
| 16 | g.30986954C>T | CA395641689 | HSD3B7 | c.646C>T (p.Leu216Phe) c.531+250C>T (n.531+250C>T) | |
| 16 | g.30986955T>A | CA395641692 | HSD3B7 | c.647T>A (p.Leu216His) c.531+251T>A (n.531+251T>A) | |
| 16 | g.30986955T>C | CA395641694 | HSD3B7 | c.647T>C (p.Leu216Pro) c.531+251T>C (n.531+251T>C) | |
| 16 | g.30986955T>G | CA395641696 | HSD3B7 | c.647T>G (p.Leu216Arg) c.531+251T>G (n.531+251T>G) | |
| 16 | g.30986956C>A | CA494920386 | HSD3B7 | c.648C>A (p.Leu216=) c.531+252C>A (n.531+252C>A) | |
| 16 | g.30986956C= | CA2216823142 | HSD3B7 | c.648C= (p.Leu216=) c.531+252C= (n.531+252C=) | |
| 16 | g.30986956C>G | CA494920388 | HSD3B7 | c.648C>G (p.Leu216=) c.531+252C>G (n.531+252C>G) | |
| 16 | g.30986956C>T | CA8018061 | HSD3B7 | c.648C>T (p.Leu216=) c.531+252C>T (n.531+252C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986957T>A | CA395641704 | HSD3B7 | c.649T>A (p.Phe217Ile) c.531+253T>A (n.531+253T>A) | |
| 16 | g.30986957T>C | CA395641701 | HSD3B7 | c.649T>C (p.Phe217Leu) c.531+253T>C (n.531+253T>C) | gnomAD v4 |
| 16 | g.30986957T>G | CA395641708 | HSD3B7 | c.649T>G (p.Phe217Val) c.531+253T>G (n.531+253T>G) | |
| 16 | g.30986958T>A | CA395641711 | HSD3B7 | c.650T>A (p.Phe217Tyr) c.531+254T>A (n.531+254T>A) | |
| 16 | g.30986958T>C | CA395641713 | HSD3B7 | c.650T>C (p.Phe217Ser) c.531+254T>C (n.531+254T>C) | |
| 16 | g.30986958T>G | CA395641716 | HSD3B7 | c.650T>G (p.Phe217Cys) c.531+254T>G (n.531+254T>G) | gnomAD v4 |
| 16 | g.30986959C>A | CA395641719 | HSD3B7 | c.651C>A (p.Phe217Leu) c.531+255C>A (n.531+255C>A) | |
| 16 | g.30986959C= | CA2216823148 | HSD3B7 | c.651C= (p.Phe217=) c.531+255C= (n.531+255C=) | |
| 16 | g.30986959C>G | CA395641722 | HSD3B7 | c.651C>G (p.Phe217Leu) c.531+255C>G (n.531+255C>G) | dbSNP |
| 16 | g.30986959C>T | CA494920399 | HSD3B7 | c.651C>T (p.Phe217=) c.531+255C>T (n.531+255C>T) | |
| 16 | g.30986960del | CA2632804115 | HSD3B7 | c.652del (p.Arg218GlyfsTer?) c.531+256del (n.531+256del) | gnomAD v4 |
| 16 | g.30986960C>A | CA494920401 | HSD3B7 | c.652C>A (p.Arg218=) c.531+256C>A (n.531+256C>A) | |
| 16 | g.30986960C= | CA2216823158 | HSD3B7 | c.652C= (p.Arg218=) c.531+256C= (n.531+256C=) | |
| 16 | g.30986960C>G | CA395641725 | HSD3B7 | c.652C>G (p.Arg218Gly) c.531+256C>G (n.531+256C>G) | |
| 16 | g.30986960C>T | CA8018062 | HSD3B7 | c.652C>T (p.Arg218Trp) c.531+256C>T (n.531+256C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986961G>A | CA8018063 | HSD3B7 | c.653G>A (p.Arg218Gln) c.531+257G>A (n.531+257G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986961G>C | CA395641730 | HSD3B7 | c.653G>C (p.Arg218Pro) c.531+257G>C (n.531+257G>C) | gnomAD v4 |
| 16 | g.30986961G= | CA2216823164 | HSD3B7 | c.653G= (p.Arg218=) c.531+257G= (n.531+257G=) | |
| 16 | g.30986961G>T | CA395641733 | HSD3B7 | c.653G>T (p.Arg218Leu) c.531+257G>T (n.531+257G>T) | |
| 16 | g.30986962G>A | CA494920409 | HSD3B7 | c.654G>A (p.Arg218=) c.531+258G>A (n.531+258G>A) | |
| 16 | g.30986962G>C | CA494920411 | HSD3B7 | c.654G>C (p.Arg218=) c.531+258G>C (n.531+258G>C) | |
| 16 | g.30986962G>T | CA494920413 | HSD3B7 | c.654G>T (p.Arg218=) c.531+258G>T (n.531+258G>T) | |
| 16 | g.30986963G>A | CA395641737 | HSD3B7 | c.655G>A (p.Ala219Thr) c.531+259G>A (n.531+259G>A) | |
| 16 | g.30986963G>C | CA395641740 | HSD3B7 | c.655G>C (p.Ala219Pro) c.531+259G>C (n.531+259G>C) | |
| 16 | g.30986963G>T | CA395641743 | HSD3B7 | c.655G>T (p.Ala219Ser) c.531+259G>T (n.531+259G>T) |