OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37966218C>A | CA460494798 | ADRB3 | c.252G>T (p.Leu84=) n.380G>T | |
| 8 | g.37966218C>G | CA460494800 | ADRB3 | c.252G>C (p.Leu84=) n.380G>C | |
| 8 | g.37966218C>T | CA460494799 | ADRB3 | c.252G>A (p.Leu84=) n.380G>A | gnomAD v4 |
| 8 | g.37966219A>C | CA370697184 | ADRB3 | c.251T>G (p.Leu84Arg) n.379T>G | |
| 8 | g.37966219A>G | CA370697185 | ADRB3 | c.251T>C (p.Leu84Pro) n.379T>C | |
| 8 | g.37966219A>T | CA370697189 | ADRB3 | c.251T>A (p.Leu84Gln) n.379T>A | |
| 8 | g.37966220G>A | CA460494802 | ADRB3 | c.250C>T (p.Leu84=) n.378C>T | |
| 8 | g.37966220G>C | CA370697190 | ADRB3 | c.250C>G (p.Leu84Val) n.378C>G | |
| 8 | g.37966220G>T | CA370697191 | ADRB3 | c.250C>A (p.Leu84Met) n.378C>A | |
| 8 | g.37966221G>A | CA460494803 | ADRB3 | c.249C>T (p.Asp83=) n.377C>T | |
| 8 | g.37966221G>C | CA370697192 | ADRB3 | c.249C>G (p.Asp83Glu) n.377C>G | gnomAD v4 |
| 8 | g.37966221G>T | CA370697193 | ADRB3 | c.249C>A (p.Asp83Glu) n.377C>A | |
| 8 | g.37966222T>A | CA370697196 | ADRB3 | c.248A>T (p.Asp83Val) n.376A>T | |
| 8 | g.37966222T>C | CA370697200 | ADRB3 | c.248A>G (p.Asp83Gly) n.376A>G | |
| 8 | g.37966222T>G | CA370697199 | ADRB3 | c.248A>C (p.Asp83Ala) n.376A>C | |
| 8 | g.37966223C>A | CA370697204 | ADRB3 | c.247G>T (p.Asp83Tyr) n.375G>T | |
| 8 | g.37966223C= | CA1777329323 | ADRB3 | c.247G= (p.Asp83=) n.375G= | |
| 8 | g.37966223C>G | CA370697205 | ADRB3 | c.247G>C (p.Asp83His) n.375G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966223C>T | CA4714429 | ADRB3 | c.247G>A (p.Asp83Asn) n.375G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966224G>A | CA4714430 | ADRB3 | c.246C>T (p.Ala82=) n.374C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.37966224G>C | CA460494807 | ADRB3 | c.246C>G (p.Ala82=) n.374C>G | gnomAD v4 |
| 8 | g.37966224G= | CA1777329324 | ADRB3 | c.246C= (p.Ala82=) n.374C= | |
| 8 | g.37966224G>T | CA460494808 | ADRB3 | c.246C>A (p.Ala82=) n.374C>A | |
| 8 | g.37966225G>A | CA370697217 | ADRB3 | c.245C>T (p.Ala82Val) n.373C>T | |
| 8 | g.37966225G>C | CA370697207 | ADRB3 | c.245C>G (p.Ala82Gly) n.373C>G | |
| 8 | g.37966225G>T | CA370697211 | ADRB3 | c.245C>A (p.Ala82Asp) n.373C>A | |
| 8 | g.37966226C>A | CA4714431 | ADRB3 | c.244G>T (p.Ala82Ser) n.372G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966226C= | CA1777329325 | ADRB3 | c.244G= (p.Ala82=) n.372G= | |
| 8 | g.37966226C>G | CA370697221 | ADRB3 | c.244G>C (p.Ala82Pro) n.372G>C | |
| 8 | g.37966226C>T | CA370697220 | ADRB3 | c.244G>A (p.Ala82Thr) n.372G>A | gnomAD v4 |
| 8 | g.37966227T>A | CA460494810 | ADRB3 | c.243A>T (p.Ala81=) n.371A>T | |
| 8 | g.37966227T>C | CA460494811 | ADRB3 | c.243A>G (p.Ala81=) n.371A>G | |
| 8 | g.37966227T>G | CA460494813 | ADRB3 | c.243A>C (p.Ala81=) n.371A>C | |
| 8 | g.37966228G>A | CA370697222 | ADRB3 | c.242C>T (p.Ala81Val) n.370C>T | gnomAD v4 |
| 8 | g.37966228G>C | CA370697225 | ADRB3 | c.242C>G (p.Ala81Gly) n.370C>G | |
| 8 | g.37966228G>T | CA370697223 | ADRB3 | c.242C>A (p.Ala81Glu) n.370C>A | gnomAD v4 |
| 8 | g.37966229C>A | CA370697230 | ADRB3 | c.241G>T (p.Ala81Ser) n.369G>T | gnomAD v4 |
| 8 | g.37966229C= | CA1777329326 | ADRB3 | c.241G= (p.Ala81=) n.369G= | |
| 8 | g.37966229C>G | CA370697232 | ADRB3 | c.241G>C (p.Ala81Pro) n.369G>C | COSMIC |
| 8 | g.37966229C>T | CA4714432 | ADRB3 | c.241G>A (p.Ala81Thr) n.369G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.37966230G>A | CA460494817 | ADRB3 | c.240C>T (p.Ala80=) n.368C>T | gnomAD v4 COSMIC |
| 8 | g.37966230G>C | CA460494819 | ADRB3 | c.240C>G (p.Ala80=) n.368C>G | |
| 8 | g.37966230G>T | CA460494820 | ADRB3 | c.240C>A (p.Ala80=) n.368C>A | |
| 8 | g.37966231G>A | CA370697273 | ADRB3 | c.239C>T (p.Ala80Val) n.367C>T | |
| 8 | g.37966231G>C | CA370697282 | ADRB3 | c.239C>G (p.Ala80Gly) n.367C>G | |
| 8 | g.37966231G>T | CA370697284 | ADRB3 | c.239C>A (p.Ala80Asp) n.367C>A | gnomAD v4 |
| 8 | g.37966232C>A | CA370697290 | ADRB3 | c.238G>T (p.Ala80Ser) n.366G>T | |
| 8 | g.37966232C= | CA1777329327 | ADRB3 | c.238G= (p.Ala80=) n.366G= | |
| 8 | g.37966232C>G | CA370697292 | ADRB3 | c.238G>C (p.Ala80Pro) n.366G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966232C>T | CA370697294 | ADRB3 | c.238G>A (p.Ala80Thr) n.366G>A | |
| 8 | g.37966233C>A | CA460494823 | ADRB3 | c.237G>T (p.Leu79=) n.365G>T | |
| 8 | g.37966233C= | CA1777329328 | ADRB3 | c.237G= (p.Leu79=) n.365G= | |
| 8 | g.37966233C>G | CA460494824 | ADRB3 | c.237G>C (p.Leu79=) n.365G>C | |
| 8 | g.37966233C>T | CA4714433 | ADRB3 | c.237G>A (p.Leu79=) n.365G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966234A>C | CA370697308 | ADRB3 | c.236T>G (p.Leu79Arg) n.364T>G | |
| 8 | g.37966234A>G | CA370697304 | ADRB3 | c.236T>C (p.Leu79Pro) n.364T>C | |
| 8 | g.37966234A>T | CA370697301 | ADRB3 | c.236T>A (p.Leu79Gln) n.364T>A | |
| 8 | g.37966235G>A | CA460494825 | ADRB3 | c.235C>T (p.Leu79=) n.363C>T | |
| 8 | g.37966235G>C | CA370697322 | ADRB3 | c.235C>G (p.Leu79Val) n.363C>G | |
| 8 | g.37966235G>T | CA370697332 | ADRB3 | c.235C>A (p.Leu79Met) n.363C>A | |
| 8 | g.37966236C>A | CA460494828 | ADRB3 | c.234G>T (p.Ser78=) n.362G>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966236C= | CA1777329329 | ADRB3 | c.234G= (p.Ser78=) n.362G= | |
| 8 | g.37966236C>G | CA460494829 | ADRB3 | c.234G>C (p.Ser78=) n.362G>C | gnomAD v4 |
| 8 | g.37966236C>T | CA460494831 | ADRB3 | c.234G>A (p.Ser78=) n.362G>A | COSMIC |
| 8 | g.37966237G>A | CA370697337 | ADRB3 | c.233C>T (p.Ser78Leu) n.361C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.37966237G>C | CA370697341 | ADRB3 | c.233C>G (p.Ser78Trp) n.361C>G | |
| 8 | g.37966237G= | CA1777329330 | ADRB3 | c.233C= (p.Ser78=) n.361C= | |
| 8 | g.37966237G>T | CA370697344 | ADRB3 | c.233C>A (p.Ser78Ter) n.361C>A | gnomAD v4 |
| 8 | g.37966238A>C | CA370697352 | ADRB3 | c.232T>G (p.Ser78Ala) n.360T>G | gnomAD v4 |
| 8 | g.37966238A>G | CA370697355 | ADRB3 | c.232T>C (p.Ser78Pro) n.360T>C | |
| 8 | g.37966238A>T | CA370697358 | ADRB3 | c.232T>A (p.Ser78Thr) n.360T>A | |
| 8 | g.37966239A>C | CA460494837 | ADRB3 | c.231T>G (p.Thr77=) n.359T>G | |
| 8 | g.37966239A>G | CA460494839 | ADRB3 | c.231T>C (p.Thr77=) n.359T>C | |
| 8 | g.37966239A>T | CA460494836 | ADRB3 | c.231T>A (p.Thr77=) n.359T>A | |
| 8 | g.37966240G>A | CA370697364 | ADRB3 | c.230C>T (p.Thr77Ile) n.358C>T | gnomAD v4 |
| 8 | g.37966240G>C | CA370697365 | ADRB3 | c.230C>G (p.Thr77Ser) n.358C>G | |
| 8 | g.37966240G>T | CA370697369 | ADRB3 | c.230C>A (p.Thr77Asn) n.358C>A | |
| 8 | g.37966241T>A | CA370697375 | ADRB3 | c.229A>T (p.Thr77Ser) n.357A>T | |
| 8 | g.37966241T>C | CA370697379 | ADRB3 | c.229A>G (p.Thr77Ala) n.357A>G | |
| 8 | g.37966241T>G | CA370697371 | ADRB3 | c.229A>C (p.Thr77Pro) n.357A>C | |
| 8 | g.37966242C>A | CA460494846 | ADRB3 | c.228G>T (p.Val76=) n.356G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37966242C= | CA1777329331 | ADRB3 | c.228G= (p.Val76=) n.356G= | |
| 8 | g.37966242C>G | CA460494842 | ADRB3 | c.228G>C (p.Val76=) n.356G>C | |
| 8 | g.37966242C>T | CA460494845 | ADRB3 | c.228G>A (p.Val76=) n.356G>A | |
| 8 | g.37966243A>C | CA370697384 | ADRB3 | c.227T>G (p.Val76Gly) n.355T>G | gnomAD v4 |
| 8 | g.37966243A>G | CA370697394 | ADRB3 | c.227T>C (p.Val76Ala) n.355T>C | |
| 8 | g.37966243A>T | CA370697395 | ADRB3 | c.227T>A (p.Val76Glu) n.355T>A | |
| 8 | g.37966244C>A | CA370697397 | ADRB3 | c.226G>T (p.Val76Leu) n.354G>T | |
| 8 | g.37966244C= | CA1777329332 | ADRB3 | c.226G= (p.Val76=) n.354G= | |
| 8 | g.37966244C>G | CA4714434 | ADRB3 | c.226G>C (p.Val76Leu) n.354G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966244C>T | CA370697400 | ADRB3 | c.226G>A (p.Val76Met) n.354G>A | |
| 8 | g.37966245G>A | CA460494852 | ADRB3 | c.225C>T (p.Phe75=) n.353C>T | dbSNP gnomAD v4 |
| 8 | g.37966245G>C | CA370697404 | ADRB3 | c.225C>G (p.Phe75Leu) n.353C>G | |
| 8 | g.37966245G= | CA1777329333 | ADRB3 | c.225C= (p.Phe75=) n.353C= | |
| 8 | g.37966245G>T | CA370697409 | ADRB3 | c.225C>A (p.Phe75Leu) n.353C>A | |
| 8 | g.37966246A>C | CA370697412 | ADRB3 | c.224T>G (p.Phe75Cys) n.352T>G | |
| 8 | g.37966246A>G | CA370697428 | ADRB3 | c.224T>C (p.Phe75Ser) n.352T>C | |
| 8 | g.37966246A>T | CA370697432 | ADRB3 | c.224T>A (p.Phe75Tyr) n.352T>A | |
| 8 | g.37966247A>C | CA370697440 | ADRB3 | c.223T>G (p.Phe75Val) n.351T>G | |
| 8 | g.37966247A>G | CA370697443 | ADRB3 | c.223T>C (p.Phe75Leu) n.351T>C | |
| 8 | g.37966247A>T | CA370697438 | ADRB3 | c.223T>A (p.Phe75Ile) n.351T>A | |
| 8 | g.37966248C>A | CA460494860 | ADRB3 | c.222G>T (p.Val74=) n.350G>T | gnomAD v4 |
| 8 | g.37966248C>G | CA460494861 | ADRB3 | c.222G>C (p.Val74=) n.350G>C | |
| 8 | g.37966248C>T | CA460494862 | ADRB3 | c.222G>A (p.Val74=) n.350G>A | |
| 8 | g.37966249A>C | CA370697448 | ADRB3 | c.221T>G (p.Val74Gly) n.349T>G | |
| 8 | g.37966249A>G | CA370697450 | ADRB3 | c.221T>C (p.Val74Ala) n.349T>C | |
| 8 | g.37966249A>T | CA370697454 | ADRB3 | c.221T>A (p.Val74Glu) n.349T>A | gnomAD v4 |
| 8 | g.37966250C>A | CA370697458 | ADRB3 | c.220G>T (p.Val74Leu) n.348G>T | |
| 8 | g.37966250C= | CA1777329334 | ADRB3 | c.220G= (p.Val74=) n.348G= | |
| 8 | g.37966250C>G | CA370697459 | ADRB3 | c.220G>C (p.Val74Leu) n.348G>C | |
| 8 | g.37966250C>T | CA4714435 | ADRB3 | c.220G>A (p.Val74Met) n.348G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966251G>A | CA460494872 | ADRB3 | c.219C>T (p.Asn73=) n.347C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37966251G>C | CA370697461 | ADRB3 | c.219C>G (p.Asn73Lys) n.347C>G | |
| 8 | g.37966251G= | CA1777329335 | ADRB3 | c.219C= (p.Asn73=) n.347C= | |
| 8 | g.37966251G>T | CA175072438 | ADRB3 | c.219C>A (p.Asn73Lys) n.347C>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966252T>A | CA370697468 | ADRB3 | c.218A>T (p.Asn73Ile) n.346A>T | |
| 8 | g.37966252T>C | CA370697470 | ADRB3 | c.218A>G (p.Asn73Ser) n.346A>G | gnomAD v4 |
| 8 | g.37966252T>G | CA370697474 | ADRB3 | c.218A>C (p.Asn73Thr) n.346A>C | |
| 8 | g.37966253T>A | CA370697477 | ADRB3 | c.217A>T (p.Asn73Tyr) n.345A>T | |
| 8 | g.37966253T>C | CA370697480 | ADRB3 | c.217A>G (p.Asn73Asp) n.345A>G | |
| 8 | g.37966253T>G | CA370697481 | ADRB3 | c.217A>C (p.Asn73His) n.345A>C | |
| 8 | g.37966254G>A | CA460494879 | ADRB3 | c.216C>T (p.Thr72=) n.344C>T | dbSNP gnomAD v2 |
| 8 | g.37966254G>C | CA460494881 | ADRB3 | c.216C>G (p.Thr72=) n.344C>G | |
| 8 | g.37966254G= | CA1777329336 | ADRB3 | c.216C= (p.Thr72=) n.344C= | |
| 8 | g.37966254G>T | CA460494882 | ADRB3 | c.216C>A (p.Thr72=) n.344C>A | |
| 8 | g.37966255G>A | CA370697485 | ADRB3 | c.215C>T (p.Thr72Ile) n.343C>T | gnomAD v4 |
| 8 | g.37966255G>C | CA370697483 | ADRB3 | c.215C>G (p.Thr72Ser) n.343C>G | |
| 8 | g.37966255G= | CA1777329337 | ADRB3 | c.215C= (p.Thr72=) n.343C= | |
| 8 | g.37966255G>T | CA370697482 | ADRB3 | c.215C>A (p.Thr72Asn) n.343C>A | dbSNP gnomAD v4 |
| 8 | g.37966256T>A | CA370697496 | ADRB3 | c.214A>T (p.Thr72Ser) n.342A>T | |
| 8 | g.37966256T>C | CA370697489 | ADRB3 | c.214A>G (p.Thr72Ala) n.342A>G | dbSNP gnomAD v2 |
| 8 | g.37966256T>G | CA370697498 | ADRB3 | c.214A>C (p.Thr72Pro) n.342A>C | |
| 8 | g.37966256T= | CA1777329338 | ADRB3 | c.214A= (p.Thr72=) n.342A= | |
| 8 | g.37966257C>A | CA370697502 | ADRB3 | c.213G>T (p.Met71Ile) n.341G>T | COSMIC |
| 8 | g.37966257C>G | CA370697513 | ADRB3 | c.213G>C (p.Met71Ile) n.341G>C | |
| 8 | g.37966257C>T | CA370697516 | ADRB3 | c.213G>A (p.Met71Ile) n.341G>A | |
| 8 | g.37966258A= | CA1777329339 | ADRB3 | c.212T= (p.Met71=) n.340T= | |
| 8 | g.37966258A>C | CA370697521 | ADRB3 | c.212T>G (p.Met71Arg) n.340T>G | |
| 8 | g.37966258A>G | CA370697527 | ADRB3 | c.212T>C (p.Met71Thr) n.340T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.37966258A>T | CA370697532 | ADRB3 | c.212T>A (p.Met71Lys) n.340T>A | |
| 8 | g.37966259T>A | CA370697533 | ADRB3 | c.211A>T (p.Met71Leu) n.339A>T | |
| 8 | g.37966259T>C | CA370697534 | ADRB3 | c.211A>G (p.Met71Val) n.339A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966259T>G | CA370697537 | ADRB3 | c.211A>C (p.Met71Leu) n.339A>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966259T= | CA1777329340 | ADRB3 | c.211A= (p.Met71=) n.339A= | |
| 8 | g.37966260G>A | CA460494900 | ADRB3 | c.210C>T (p.Thr70=) n.338C>T | |
| 8 | g.37966260G>C | CA460494902 | ADRB3 | c.210C>G (p.Thr70=) n.338C>G | |
| 8 | g.37966260G= | CA1777329341 | ADRB3 | c.210C= (p.Thr70=) n.338C= | |
| 8 | g.37966260G>T | CA460494901 | ADRB3 | c.210C>A (p.Thr70=) n.338C>A | dbSNP gnomAD v4 |
| 8 | g.37966261G>A | CA370697540 | ADRB3 | c.209C>T (p.Thr70Ile) n.337C>T | |
| 8 | g.37966261G>C | CA370697541 | ADRB3 | c.209C>G (p.Thr70Ser) n.337C>G | |
| 8 | g.37966261G>T | CA370697542 | ADRB3 | c.209C>A (p.Thr70Asn) n.337C>A | COSMIC |
| 8 | g.37966262T>A | CA370697552 | ADRB3 | c.208A>T (p.Thr70Ser) n.336A>T | |
| 8 | g.37966262T>C | CA370697551 | ADRB3 | c.208A>G (p.Thr70Ala) n.336A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966262T>G | CA370697546 | ADRB3 | c.208A>C (p.Thr70Pro) n.336A>C | dbSNP |
| 8 | g.37966262T= | CA1777329342 | ADRB3 | c.208A= (p.Thr70=) n.336A= | |
| 8 | g.37966263C>A | CA370697555 | ADRB3 | c.207G>T (p.Gln69His) n.335G>T | |
| 8 | g.37966263C= | CA1777329343 | ADRB3 | c.207G= (p.Gln69=) n.335G= | |
| 8 | g.37966263C>G | CA370697559 | ADRB3 | c.207G>C (p.Gln69His) n.335G>C | gnomAD v4 |
| 8 | g.37966263C>T | CA4714436 | ADRB3 | c.207G>A (p.Gln69=) n.335G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966264T>A | CA370697564 | ADRB3 | c.206A>T (p.Gln69Leu) n.334A>T | gnomAD v4 |
| 8 | g.37966264T>C | CA370697567 | ADRB3 | c.206A>G (p.Gln69Arg) n.334A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966264T>G | CA370697573 | ADRB3 | c.206A>C (p.Gln69Pro) n.334A>C | |
| 8 | g.37966264T= | CA1777329344 | ADRB3 | c.206A= (p.Gln69=) n.334A= | |
| 8 | g.37966265G>A | CA370697587 | ADRB3 | c.205C>T (p.Gln69Ter) n.333C>T | COSMIC |
| 8 | g.37966265G>C | CA370697590 | ADRB3 | c.205C>G (p.Gln69Glu) n.333C>G | |
| 8 | g.37966265G>T | CA370697593 | ADRB3 | c.205C>A (p.Gln69Lys) n.333C>A | |
| 8 | g.37966266G>A | CA460494907 | ADRB3 | c.204C>T (p.Leu68=) n.332C>T | |
| 8 | g.37966266G>C | CA460494909 | ADRB3 | c.204C>G (p.Leu68=) n.332C>G | dbSNP |
| 8 | g.37966266G= | CA1777329345 | ADRB3 | c.204C= (p.Leu68=) n.332C= | |
| 8 | g.37966266G>T | CA460494910 | ADRB3 | c.204C>A (p.Leu68=) n.332C>A | |
| 8 | g.37966267A>C | CA370697602 | ADRB3 | c.203T>G (p.Leu68Arg) n.331T>G | |
| 8 | g.37966267A>G | CA370697605 | ADRB3 | c.203T>C (p.Leu68Pro) n.331T>C | |
| 8 | g.37966267A>T | CA370697618 | ADRB3 | c.203T>A (p.Leu68His) n.331T>A | |
| 8 | g.37966268G>A | CA370697628 | ADRB3 | c.202C>T (p.Leu68Phe) n.330C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37966268G>C | CA370697626 | ADRB3 | c.202C>G (p.Leu68Val) n.330C>G | |
| 8 | g.37966268G= | CA1777329346 | ADRB3 | c.202C= (p.Leu68=) n.330C= | |
| 8 | g.37966268G>T | CA370697622 | ADRB3 | c.202C>A (p.Leu68Ile) n.330C>A | |
| 8 | g.37966269T>A | CA370697631 | ADRB3 | c.201A>T (p.Arg67Ser) n.329A>T | gnomAD v4 |
| 8 | g.37966269T>C | CA460370403 | ADRB3 | c.201A>G (p.Arg67=) n.329A>G | |
| 8 | g.37966269T>G | CA370697634 | ADRB3 | c.201A>C (p.Arg67Ser) n.329A>C | |
| 8 | g.37966270C>A | CA370697638 | ADRB3 | c.200G>T (p.Arg67Ile) n.328G>T | COSMIC |
| 8 | g.37966270C>G | CA370697641 | ADRB3 | c.200G>C (p.Arg67Thr) n.328G>C | |
| 8 | g.37966270C>T | CA370697643 | ADRB3 | c.200G>A (p.Arg67Lys) n.328G>A | |
| 8 | g.37966271T>A | CA370697647 | ADRB3 | c.199A>T (p.Arg67Ter) n.327A>T | |
| 8 | g.37966271T>C | CA370697649 | ADRB3 | c.199A>G (p.Arg67Gly) n.327A>G | |
| 8 | g.37966271T>G | CA460370409 | ADRB3 | c.199A>C (p.Arg67=) n.327A>C | |
| 8 | g.37966272C>A | CA460370411 | ADRB3 | c.198G>T (p.Pro66=) n.326G>T | |
| 8 | g.37966272C>G | CA460370414 | ADRB3 | c.198G>C (p.Pro66=) n.326G>C | |
| 8 | g.37966272C>T | CA460370412 | ADRB3 | c.198G>A (p.Pro66=) n.326G>A | gnomAD v4 COSMIC |
| 8 | g.37966273G>A | CA4714437 | ADRB3 | c.197C>T (p.Pro66Leu) n.325C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966273G>C | CA370697650 | ADRB3 | c.197C>G (p.Pro66Arg) n.325C>G | dbSNP gnomAD v4 |
| 8 | g.37966273G= | CA1777329347 | ADRB3 | c.197C= (p.Pro66=) n.325C= | |
| 8 | g.37966273G>T | CA370697652 | ADRB3 | c.197C>A (p.Pro66Gln) n.325C>A | |
| 8 | g.37966274G>A | CA370697654 | ADRB3 | c.196C>T (p.Pro66Ser) n.324C>T | |
| 8 | g.37966274G>C | CA370697655 | ADRB3 | c.196C>G (p.Pro66Ala) n.324C>G | |
| 8 | g.37966274G>T | CA370697657 | ADRB3 | c.196C>A (p.Pro66Thr) n.324C>A | |
| 8 | g.37966275A>C | CA460370417 | ADRB3 | c.195T>G (p.Thr65=) n.323T>G | |
| 8 | g.37966275A>G | CA460370419 | ADRB3 | c.195T>C (p.Thr65=) n.323T>C | gnomAD v4 |
| 8 | g.37966275A>T | CA460370420 | ADRB3 | c.195T>A (p.Thr65=) n.323T>A | |
| 8 | g.37966276G>A | CA370697669 | ADRB3 | c.194C>T (p.Thr65Ile) n.322C>T | |
| 8 | g.37966276G>C | CA370697660 | ADRB3 | c.194C>G (p.Thr65Ser) n.322C>G | |
| 8 | g.37966276G>T | CA370697663 | ADRB3 | c.194C>A (p.Thr65Asn) n.322C>A | |
| 8 | g.37966277T>A | CA370697672 | ADRB3 | c.193A>T (p.Thr65Ser) n.321A>T | |
| 8 | g.37966277T>C | CA370697674 | ADRB3 | c.193A>G (p.Thr65Ala) n.321A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966277T>G | CA370697676 | ADRB3 | c.193A>C (p.Thr65Pro) n.321A>C | |
| 8 | g.37966277T= | CA1777329348 | ADRB3 | c.193A= (p.Thr65=) n.321A= | |
| 8 | g.37966278C>A | CA370697680 | ADRB3 | c.192G>T (p.Trp64Cys) n.320G>T | gnomAD v4 |
| 8 | g.37966278C>G | CA370697682 | ADRB3 | c.192G>C (p.Trp64Cys) n.320G>C | |
| 8 | g.37966278C>T | CA370697685 | ADRB3 | c.192G>A (p.Trp64Ter) n.320G>A | |
| 8 | g.37966279C>A | CA370697689 | ADRB3 | c.191G>T (p.Trp64Leu) n.319G>T | |
| 8 | g.37966279C>G | CA370697690 | ADRB3 | c.191G>C (p.Trp64Ser) n.319G>C | |
| 8 | g.37966279C>T | CA370697692 | ADRB3 | c.191G>A (p.Trp64Ter) n.319G>A | dbSNP |
| 8 | g.37966280A= | CA1777329349 | ADRB3 | c.190T= (p.Trp64=) n.318T= | |
| 8 | g.37966280A>C | CA370697695 | ADRB3 | c.190T>G (p.Trp64Gly) n.318T>G | |
| 8 | g.37966280A>G | CA210819 | ADRB3 | c.190T>C (p.Trp64Arg) n.318T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966280A>T | CA370697697 | ADRB3 | c.190T>A (p.Trp64Arg) n.318T>A | |
| 8 | g.37966281G>A | CA460370431 | ADRB3 | c.189C>T (p.Ala63=) n.317C>T | |
| 8 | g.37966281G>C | CA460370432 | ADRB3 | c.189C>G (p.Ala63=) n.317C>G | |
| 8 | g.37966281G>T | CA460370433 | ADRB3 | c.189C>A (p.Ala63=) n.317C>A | |
| 8 | g.37966282G>A | CA4714438 | ADRB3 | c.188C>T (p.Ala63Val) n.316C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966282G>C | CA370697700 | ADRB3 | c.188C>G (p.Ala63Gly) n.316C>G | |
| 8 | g.37966282G= | CA1777329350 | ADRB3 | c.188C= (p.Ala63=) n.316C= | |
| 8 | g.37966282G>T | CA370697699 | ADRB3 | c.188C>A (p.Ala63Asp) n.316C>A | |
| 8 | g.37966283C>A | CA370697701 | ADRB3 | c.187G>T (p.Ala63Ser) n.315G>T | |
| 8 | g.37966283C>G | CA370697703 | ADRB3 | c.187G>C (p.Ala63Pro) n.315G>C | |
| 8 | g.37966283C>T | CA370697702 | ADRB3 | c.187G>A (p.Ala63Thr) n.315G>A | gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.37966283_37966284delinsCG | CA1777329351 | ADRB3 | c.186_187delinsCG (p.Ile62=) n.314_315delinsCG | |
| 8 | g.37966284del | CA581430263 | ADRB3 | c.186del (p.Ile62MetfsTer10) n.314del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37966284G>A | CA460370439 | ADRB3 | c.186C>T (p.Ile62=) n.314C>T | |
| 8 | g.37966284G>C | CA175072494 | ADRB3 | c.186C>G (p.Ile62Met) n.314C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.37966284G= | CA1777329352 | ADRB3 | c.186C= (p.Ile62=) n.314C= | |
| 8 | g.37966284G>T | CA4714439 | ADRB3 | c.186C>A (p.Ile62=) n.314C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966285A>C | CA370697704 | ADRB3 | c.185T>G (p.Ile62Ser) n.313T>G | |
| 8 | g.37966285A>G | CA370697705 | ADRB3 | c.185T>C (p.Ile62Thr) n.313T>C | |
| 8 | g.37966285A>T | CA370697707 | ADRB3 | c.185T>A (p.Ile62Asn) n.313T>A | |
| 8 | g.37966286T>A | CA370697709 | ADRB3 | c.184A>T (p.Ile62Phe) n.312A>T | gnomAD v4 |
| 8 | g.37966286T>C | CA175072514 | ADRB3 | c.184A>G (p.Ile62Val) n.312A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966286T>G | CA370697710 | ADRB3 | c.184A>C (p.Ile62Leu) n.312A>C | |
| 8 | g.37966286T= | CA1777329353 | ADRB3 | c.184A= (p.Ile62=) n.312A= | |
| 8 | g.37966287G>A | CA460370446 | ADRB3 | c.183C>T (p.Ala61=) n.311C>T | gnomAD v4 |
| 8 | g.37966287G>C | CA460370448 | ADRB3 | c.183C>G (p.Ala61=) n.311C>G | |
| 8 | g.37966287G>T | CA460370449 | ADRB3 | c.183C>A (p.Ala61=) n.311C>A | |
| 8 | g.37966288G>A | CA370697713 | ADRB3 | c.182C>T (p.Ala61Val) n.310C>T | gnomAD v4 |
| 8 | g.37966288G>C | CA370697714 | ADRB3 | c.182C>G (p.Ala61Gly) n.310C>G | |
| 8 | g.37966288G>T | CA370697716 | ADRB3 | c.182C>A (p.Ala61Asp) n.310C>A | gnomAD v4 |
| 8 | g.37966289C>A | CA370697717 | ADRB3 | c.181G>T (p.Ala61Ser) n.309G>T | |
| 8 | g.37966289C>G | CA370697719 | ADRB3 | c.181G>C (p.Ala61Pro) n.309G>C | |
| 8 | g.37966289C>T | CA370697720 | ADRB3 | c.181G>A (p.Ala61Thr) n.309G>A | |
| 8 | g.37966290C>A | CA460370455 | ADRB3 | c.180G>T (p.Val60=) n.308G>T | |
| 8 | g.37966290C>G | CA460370456 | ADRB3 | c.180G>C (p.Val60=) n.308G>C | |
| 8 | g.37966290C>T | CA460370458 | ADRB3 | c.180G>A (p.Val60=) n.308G>A | gnomAD v4 |
| 8 | g.37966291A= | CA1777329354 | ADRB3 | c.179T= (p.Val60=) n.307T= | |
| 8 | g.37966291A>C | CA370697725 | ADRB3 | c.179T>G (p.Val60Gly) n.307T>G | |
| 8 | g.37966291A>G | CA370697724 | ADRB3 | c.179T>C (p.Val60Ala) n.307T>C | dbSNP gnomAD v4 |
| 8 | g.37966291A>T | CA370697722 | ADRB3 | c.179T>A (p.Val60Glu) n.307T>A | |
| 8 | g.37966292C>A | CA4714440 | ADRB3 | c.178G>T (p.Val60Leu) n.306G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966292C= | CA1777329355 | ADRB3 | c.178G= (p.Val60=) n.306G= | |
| 8 | g.37966292C>G | CA370697728 | ADRB3 | c.178G>C (p.Val60Leu) n.306G>C | |
| 8 | g.37966292C>T | CA175072583 | ADRB3 | c.178G>A (p.Val60Met) n.306G>A | dbSNP gnomAD v4 |
| 8 | g.37966293G>A | CA460370463 | ADRB3 | c.177C>T (p.Ile59=) n.305C>T | dbSNP gnomAD v4 |
| 8 | g.37966293G>C | CA370697730 | ADRB3 | c.177C>G (p.Ile59Met) n.305C>G | gnomAD v4 |
| 8 | g.37966293G= | CA1777329356 | ADRB3 | c.177C= (p.Ile59=) n.305C= | |
| 8 | g.37966293G>T | CA460370466 | ADRB3 | c.177C>A (p.Ile59=) n.305C>A | |
| 8 | g.37966294A>C | CA370697731 | ADRB3 | c.176T>G (p.Ile59Ser) n.304T>G | |
| 8 | g.37966294A>G | CA370697733 | ADRB3 | c.176T>C (p.Ile59Thr) n.304T>C | gnomAD v4 |
| 8 | g.37966294A>T | CA370697734 | ADRB3 | c.176T>A (p.Ile59Asn) n.304T>A | |
| 8 | g.37966295T>A | CA370697735 | ADRB3 | c.175A>T (p.Ile59Phe) n.303A>T | |
| 8 | g.37966295T>C | CA370697737 | ADRB3 | c.175A>G (p.Ile59Val) n.303A>G | gnomAD v4 |
| 8 | g.37966295T>G | CA370697739 | ADRB3 | c.175A>C (p.Ile59Leu) n.303A>C | dbSNP gnomAD v2 |
| 8 | g.37966295T= | CA1777329357 | ADRB3 | c.175A= (p.Ile59=) n.303A= | |
| 8 | g.37966296G>A | CA4714441 | ADRB3 | c.174C>T (p.Val58=) n.302C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966296G>C | CA460370473 | ADRB3 | c.174C>G (p.Val58=) n.302C>G | |
| 8 | g.37966296G= | CA1777329358 | ADRB3 | c.174C= (p.Val58=) n.302C= | |
| 8 | g.37966296G>T | CA460370475 | ADRB3 | c.174C>A (p.Val58=) n.302C>A | gnomAD v4 |
| 8 | g.37966297A= | CA1777329360 | ADRB3 | c.173T= (p.Val58=) n.301T= | |
| 8 | g.37966297A>C | CA370697742 | ADRB3 | c.173T>G (p.Val58Gly) n.301T>G | |
| 8 | g.37966297A>G | CA370697743 | ADRB3 | c.173T>C (p.Val58Ala) n.301T>C | |
| 8 | g.37966297A>T | CA175072596 | ADRB3 | c.173T>A (p.Val58Asp) n.301T>A | dbSNP |
| 8 | g.37966298_37966303dup | CA1777329359 | ADRB3 | c.168_173dup (p.Val58_Ile59insLeuVal) n.296_301dup | dbSNP |
| 8 | g.37966298C>A | CA370697747 | ADRB3 | c.172G>T (p.Val58Phe) n.300G>T | |
| 8 | g.37966298C= | CA1777329361 | ADRB3 | c.172G= (p.Val58=) n.300G= | |
| 8 | g.37966298C>G | CA370697748 | ADRB3 | c.172G>C (p.Val58Leu) n.300G>C | gnomAD v4 |
| 8 | g.37966298C>T | CA370697746 | ADRB3 | c.172G>A (p.Val58Ile) n.300G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966299C>A | CA460370479 | ADRB3 | c.171G>T (p.Leu57=) n.299G>T | gnomAD v4 |
| 8 | g.37966299C>G | CA460370481 | ADRB3 | c.171G>C (p.Leu57=) n.299G>C | |
| 8 | g.37966299C>T | CA460370483 | ADRB3 | c.171G>A (p.Leu57=) n.299G>A | |
| 8 | g.37966300A>C | CA370697751 | ADRB3 | c.170T>G (p.Leu57Arg) n.298T>G | |
| 8 | g.37966300A>G | CA370697752 | ADRB3 | c.170T>C (p.Leu57Pro) n.298T>C | |
| 8 | g.37966300A>T | CA370697754 | ADRB3 | c.170T>A (p.Leu57Gln) n.298T>A | |
| 8 | g.37966301G>A | CA460370486 | ADRB3 | c.169C>T (p.Leu57=) n.297C>T | dbSNP |
| 8 | g.37966301G>C | CA370697755 | ADRB3 | c.169C>G (p.Leu57Val) n.297C>G | ClinVar |
| 8 | g.37966301G= | CA1777329362 | ADRB3 | c.169C= (p.Leu57=) n.297C= | |
| 8 | g.37966301G>T | CA370697756 | ADRB3 | c.169C>A (p.Leu57Met) n.297C>A | |
| 8 | g.37966302C>A | CA460370492 | ADRB3 | c.168G>T (p.Leu56=) n.296G>T | |
| 8 | g.37966302C= | CA1777329363 | ADRB3 | c.168G= (p.Leu56=) n.296G= | |
| 8 | g.37966302C>G | CA460370491 | ADRB3 | c.168G>C (p.Leu56=) n.296G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37966302C>T | CA460370489 | ADRB3 | c.168G>A (p.Leu56=) n.296G>A | dbSNP |
| 8 | g.37966303A>C | CA370697758 | ADRB3 | c.167T>G (p.Leu56Arg) n.295T>G | |
| 8 | g.37966303A>G | CA370697760 | ADRB3 | c.167T>C (p.Leu56Pro) n.295T>C | |
| 8 | g.37966303A>T | CA370697762 | ADRB3 | c.167T>A (p.Leu56Gln) n.295T>A | |
| 8 | g.37966304G>A | CA460370495 | ADRB3 | c.166C>T (p.Leu56=) n.294C>T | |
| 8 | g.37966304G>C | CA370697763 | ADRB3 | c.166C>G (p.Leu56Val) n.294C>G | |
| 8 | g.37966304G>T | CA370697765 | ADRB3 | c.166C>A (p.Leu56Met) n.294C>A | |
| 8 | g.37966305G>A | CA460370498 | ADRB3 | c.165C>T (p.Asn55=) n.293C>T | |
| 8 | g.37966305G>C | CA370697767 | ADRB3 | c.165C>G (p.Asn55Lys) n.293C>G | |
| 8 | g.37966305G>T | CA370697769 | ADRB3 | c.165C>A (p.Asn55Lys) n.293C>A | |
| 8 | g.37966306T>A | CA370697774 | ADRB3 | c.164A>T (p.Asn55Ile) n.292A>T | |
| 8 | g.37966306T>C | CA370697772 | ADRB3 | c.164A>G (p.Asn55Ser) n.292A>G | |
| 8 | g.37966306T>G | CA370697770 | ADRB3 | c.164A>C (p.Asn55Thr) n.292A>C | |
| 8 | g.37966307T>A | CA370697775 | ADRB3 | c.163A>T (p.Asn55Tyr) n.291A>T | |
| 8 | g.37966307T>C | CA370697777 | ADRB3 | c.163A>G (p.Asn55Asp) n.291A>G | dbSNP |
| 8 | g.37966307T>G | CA370697778 | ADRB3 | c.163A>C (p.Asn55His) n.291A>C | |
| 8 | g.37966307T= | CA1777329364 | ADRB3 | c.163A= (p.Asn55=) n.291A= | |
| 8 | g.37966308G>A | CA460370505 | ADRB3 | c.162C>T (p.Gly54=) n.290C>T | |
| 8 | g.37966308G>C | CA460370506 | ADRB3 | c.162C>G (p.Gly54=) n.290C>G | |
| 8 | g.37966308G>T | CA460370507 | ADRB3 | c.162C>A (p.Gly54=) n.290C>A | |
| 8 | g.37966309C>A | CA370697780 | ADRB3 | c.161G>T (p.Gly54Val) n.289G>T | |
| 8 | g.37966309C>G | CA370697782 | ADRB3 | c.161G>C (p.Gly54Ala) n.289G>C | |
| 8 | g.37966309C>T | CA370697783 | ADRB3 | c.161G>A (p.Gly54Asp) n.289G>A | gnomAD v4 |
| 8 | g.37966310C>A | CA370697785 | ADRB3 | c.160G>T (p.Gly54Cys) n.288G>T | |
| 8 | g.37966310C>G | CA370697786 | ADRB3 | c.160G>C (p.Gly54Arg) n.288G>C | |
| 8 | g.37966310C>T | CA370697787 | ADRB3 | c.160G>A (p.Gly54Ser) n.288G>A | |
| 8 | g.37966311T>A | CA460370513 | ADRB3 | c.159A>T (p.Gly53=) n.287A>T | |
| 8 | g.37966311T>C | CA460370515 | ADRB3 | c.159A>G (p.Gly53=) n.287A>G | |
| 8 | g.37966311T>G | CA460370516 | ADRB3 | c.159A>C (p.Gly53=) n.287A>C | |
| 8 | g.37966312C>A | CA370697789 | ADRB3 | c.158G>T (p.Gly53Val) n.286G>T | |
| 8 | g.37966312C>G | CA370697790 | ADRB3 | c.158G>C (p.Gly53Ala) n.286G>C | |
| 8 | g.37966312C>T | CA370697791 | ADRB3 | c.158G>A (p.Gly53Glu) n.286G>A | COSMIC |
| 8 | g.37966313C>A | CA370697793 | ADRB3 | c.157G>T (p.Gly53Ter) n.285G>T | |
| 8 | g.37966313C>G | CA370697796 | ADRB3 | c.157G>C (p.Gly53Arg) n.285G>C | |
| 8 | g.37966313C>T | CA370697795 | ADRB3 | c.157G>A (p.Gly53Arg) n.285G>A | |
| 8 | g.37966314C>A | CA460370523 | ADRB3 | c.156G>T (p.Val52=) n.284G>T | |
| 8 | g.37966314C= | CA1777329365 | ADRB3 | c.156G= (p.Val52=) n.284G= | |
| 8 | g.37966314C>G | CA4714442 | ADRB3 | c.156G>C (p.Val52=) n.284G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966314C>T | CA460370525 | ADRB3 | c.156G>A (p.Val52=) n.284G>A | |
| 8 | g.37966315A>C | CA370697799 | ADRB3 | c.155T>G (p.Val52Gly) n.283T>G | |
| 8 | g.37966315A>G | CA370697800 | ADRB3 | c.155T>C (p.Val52Ala) n.283T>C | |
| 8 | g.37966315A>T | CA370697802 | ADRB3 | c.155T>A (p.Val52Glu) n.283T>A | |
| 8 | g.37966316C>A | CA370697803 | ADRB3 | c.154G>T (p.Val52Leu) n.282G>T | |
| 8 | g.37966316C= | CA1777329366 | ADRB3 | c.154G= (p.Val52=) n.282G= | |
| 8 | g.37966316C>G | CA370697805 | ADRB3 | c.154G>C (p.Val52Leu) n.282G>C | |
| 8 | g.37966316C>T | CA370697806 | ADRB3 | c.154G>A (p.Val52Met) n.282G>A | dbSNP gnomAD v4 |
| 8 | g.37966317G>A | CA4714443 | ADRB3 | c.153C>T (p.Thr51=) n.281C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37966317G>C | CA4714444 | ADRB3 | c.153C>G (p.Thr51=) n.281C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37966317G= | CA1777329367 | ADRB3 | c.153C= (p.Thr51=) n.281C= | |
| 8 | g.37966317G>T | CA460370532 | ADRB3 | c.153C>A (p.Thr51=) n.281C>A | |
| 8 | g.37966318G>A | CA175072605 | ADRB3 | c.152C>T (p.Thr51Ile) n.280C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37966318G>C | CA370697810 | ADRB3 | c.152C>G (p.Thr51Ser) n.280C>G | |
| 8 | g.37966318G= | CA1777329368 | ADRB3 | c.152C= (p.Thr51=) n.280C= | |
| 8 | g.37966318G>T | CA370697812 | ADRB3 | c.152C>A (p.Thr51Asn) n.280C>A | dbSNP gnomAD v2 |