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 |
|---|---|---|---|---|---|
| 5 | g.148826974_148827010delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA | CA1590223583 | ADRB2 | c.143_179delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA (p.Val48=) | |
| 5 | g.148826978_148827013del | CA3498376 | ADRB2 | c.147_182del (p.Gly50_Phe61del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148826997A>C | CA361894005 | ADRB2 | c.166A>C (p.Thr56Pro) | |
| 5 | g.148826997A>G | CA361894006 | ADRB2 | c.166A>G (p.Thr56Ala) | |
| 5 | g.148826997A>T | CA361894007 | ADRB2 | c.166A>T (p.Thr56Ser) | |
| 5 | g.148826998C>A | CA361894008 | ADRB2 | c.167C>A (p.Thr56Lys) | |
| 5 | g.148826998C>G | CA361894009 | ADRB2 | c.167C>G (p.Thr56Arg) | |
| 5 | g.148826998C>T | CA361894010 | ADRB2 | c.167C>T (p.Thr56Ile) | |
| 5 | g.148826998dup | CA2768848223 | ADRB2 | c.167dup (p.Ala57SerfsTer23) | |
| 5 | g.148826999A>C | CA447425347 | ADRB2 | c.168A>C (p.Thr56=) | |
| 5 | g.148826999A>G | CA447425349 | ADRB2 | c.168A>G (p.Thr56=) | |
| 5 | g.148826999A>T | CA447425348 | ADRB2 | c.168A>T (p.Thr56=) | |
| 5 | g.148827000G>A | CA361894011 | ADRB2 | c.169G>A (p.Ala57Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.148827000G>C | CA361894012 | ADRB2 | c.169G>C (p.Ala57Pro) | gnomAD v4 |
| 5 | g.148827000G= | CA1590223592 | ADRB2 | c.169G= (p.Ala57=) | |
| 5 | g.148827000G>T | CA361894013 | ADRB2 | c.169G>T (p.Ala57Ser) | |
| 5 | g.148827001C>A | CA361894016 | ADRB2 | c.170C>A (p.Ala57Asp) | gnomAD v4 |
| 5 | g.148827001C>G | CA361894015 | ADRB2 | c.170C>G (p.Ala57Gly) | |
| 5 | g.148827001C>T | CA361894014 | ADRB2 | c.170C>T (p.Ala57Val) | |
| 5 | g.148827002dup | CA129772935 | ADRB2 | c.171dup (p.Ile58HisfsTer22) | dbSNP |
| 5 | g.148827001_148827002insA | CA2768848226 | ADRB2 | c.170_171insA (p.Ile58HisfsTer22) | |
| 5 | g.148827002C>A | CA447425351 | ADRB2 | c.171C>A (p.Ala57=) | |
| 5 | g.148827002C= | CA1590223593 | ADRB2 | c.171C= (p.Ala57=) | |
| 5 | g.148827002C>G | CA3498378 | ADRB2 | c.171C>G (p.Ala57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827002C>T | CA447425354 | ADRB2 | c.171C>T (p.Ala57=) | |
| 5 | g.148827003A>C | CA361894019 | ADRB2 | c.172A>C (p.Ile58Leu) | |
| 5 | g.148827003A>G | CA361894017 | ADRB2 | c.172A>G (p.Ile58Val) | gnomAD v4 |
| 5 | g.148827003A>T | CA361894018 | ADRB2 | c.172A>T (p.Ile58Phe) | |
| 5 | g.148827004T>A | CA361894020 | ADRB2 | c.173T>A (p.Ile58Asn) | |
| 5 | g.148827004T>C | CA361894021 | ADRB2 | c.173T>C (p.Ile58Thr) | |
| 5 | g.148827004T>G | CA361894022 | ADRB2 | c.173T>G (p.Ile58Ser) | |
| 5 | g.148827005T>A | CA447425355 | ADRB2 | c.174T>A (p.Ile58=) | |
| 5 | g.148827005T>C | CA447425357 | ADRB2 | c.174T>C (p.Ile58=) | gnomAD v4 |
| 5 | g.148827005T>G | CA361894023 | ADRB2 | c.174T>G (p.Ile58Met) | |
| 5 | g.148827006G>A | CA361894024 | ADRB2 | c.175G>A (p.Ala59Thr) | |
| 5 | g.148827006G>C | CA361894025 | ADRB2 | c.175G>C (p.Ala59Pro) | |
| 5 | g.148827006G>T | CA361894026 | ADRB2 | c.175G>T (p.Ala59Ser) | |
| 5 | g.148827007C>A | CA361894027 | ADRB2 | c.176C>A (p.Ala59Asp) | gnomAD v4 |
| 5 | g.148827007C= | CA1590223594 | ADRB2 | c.176C= (p.Ala59=) | |
| 5 | g.148827007C>G | CA361894028 | ADRB2 | c.176C>G (p.Ala59Gly) | |
| 5 | g.148827007C>T | CA361894029 | ADRB2 | c.176C>T (p.Ala59Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827008C>A | CA447425361 | ADRB2 | c.177C>A (p.Ala59=) | dbSNP |
| 5 | g.148827008C= | CA1590223595 | ADRB2 | c.177C= (p.Ala59=) | |
| 5 | g.148827008C>G | CA447425362 | ADRB2 | c.177C>G (p.Ala59=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827008C>T | CA447425363 | ADRB2 | c.177C>T (p.Ala59=) | |
| 5 | g.148827009A= | CA1590223596 | ADRB2 | c.178A= (p.Lys60=) | |
| 5 | g.148827009A>C | CA361894032 | ADRB2 | c.178A>C (p.Lys60Gln) | |
| 5 | g.148827009A>G | CA361894031 | ADRB2 | c.178A>G (p.Lys60Glu) | dbSNP gnomAD v4 |
| 5 | g.148827009A>T | CA361894030 | ADRB2 | c.178A>T (p.Lys60Ter) | |
| 5 | g.148827010A>C | CA361894033 | ADRB2 | c.179A>C (p.Lys60Thr) | |
| 5 | g.148827010A>G | CA361894034 | ADRB2 | c.179A>G (p.Lys60Arg) | |
| 5 | g.148827010A>T | CA361894035 | ADRB2 | c.179A>T (p.Lys60Met) | |
| 5 | g.148827011G>A | CA447425367 | ADRB2 | c.180G>A (p.Lys60=) | |
| 5 | g.148827011G>C | CA361894036 | ADRB2 | c.180G>C (p.Lys60Asn) | |
| 5 | g.148827011G= | CA1590223597 | ADRB2 | c.180G= (p.Lys60=) | |
| 5 | g.148827011G>T | CA3498379 | ADRB2 | c.180G>T (p.Lys60Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827012T>A | CA361894037 | ADRB2 | c.181T>A (p.Phe61Ile) | |
| 5 | g.148827012T>C | CA361894038 | ADRB2 | c.181T>C (p.Phe61Leu) | |
| 5 | g.148827012T>G | CA361894039 | ADRB2 | c.181T>G (p.Phe61Val) | |
| 5 | g.148827013T>A | CA361894040 | ADRB2 | c.182T>A (p.Phe61Tyr) | |
| 5 | g.148827013T>C | CA361894041 | ADRB2 | c.182T>C (p.Phe61Ser) | |
| 5 | g.148827013T>G | CA361894042 | ADRB2 | c.182T>G (p.Phe61Cys) | |
| 5 | g.148827014C>A | CA361894043 | ADRB2 | c.183C>A (p.Phe61Leu) | gnomAD v4 |
| 5 | g.148827014C>G | CA361894044 | ADRB2 | c.183C>G (p.Phe61Leu) | |
| 5 | g.148827014C>T | CA447425370 | ADRB2 | c.183C>T (p.Phe61=) | COSMIC |
| 5 | g.148827015G>A | CA361894047 | ADRB2 | c.184G>A (p.Glu62Lys) | |
| 5 | g.148827015G>C | CA361894046 | ADRB2 | c.184G>C (p.Glu62Gln) | dbSNP |
| 5 | g.148827015G= | CA1590223598 | ADRB2 | c.184G= (p.Glu62=) | |
| 5 | g.148827015G>T | CA361894045 | ADRB2 | c.184G>T (p.Glu62Ter) | |
| 5 | g.148827016A>C | CA361894050 | ADRB2 | c.185A>C (p.Glu62Ala) | |
| 5 | g.148827016A>G | CA361894048 | ADRB2 | c.185A>G (p.Glu62Gly) | |
| 5 | g.148827016A>T | CA361894049 | ADRB2 | c.185A>T (p.Glu62Val) | |
| 5 | g.148827017G>A | CA447425374 | ADRB2 | c.186G>A (p.Glu62=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148827017G>C | CA3498380 | ADRB2 | c.186G>C (p.Glu62Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827017G= | CA1590223599 | ADRB2 | c.186G= (p.Glu62=) | |
| 5 | g.148827017G>T | CA361894051 | ADRB2 | c.186G>T (p.Glu62Asp) | |
| 5 | g.148827018C>A | CA361894052 | ADRB2 | c.187C>A (p.Arg63Ser) | |
| 5 | g.148827018C>G | CA361894053 | ADRB2 | c.187C>G (p.Arg63Gly) | gnomAD v4 |
| 5 | g.148827018C>T | CA361894054 | ADRB2 | c.187C>T (p.Arg63Cys) | |
| 5 | g.148827019G>A | CA361894057 | ADRB2 | c.188G>A (p.Arg63His) | dbSNP gnomAD v4 COSMIC |
| 5 | g.148827019G>C | CA361894055 | ADRB2 | c.188G>C (p.Arg63Pro) | |
| 5 | g.148827019G= | CA1590223600 | ADRB2 | c.188G= (p.Arg63=) | |
| 5 | g.148827019G>T | CA361894056 | ADRB2 | c.188G>T (p.Arg63Leu) | |
| 5 | g.148827020T>A | CA447425380 | ADRB2 | c.189T>A (p.Arg63=) | gnomAD v4 |
| 5 | g.148827020T>C | CA447425379 | ADRB2 | c.189T>C (p.Arg63=) | |
| 5 | g.148827020T>G | CA447425378 | ADRB2 | c.189T>G (p.Arg63=) | |
| 5 | g.148827021C>A | CA361894058 | ADRB2 | c.190C>A (p.Leu64Met) | |
| 5 | g.148827021C>G | CA361894059 | ADRB2 | c.190C>G (p.Leu64Val) | |
| 5 | g.148827021C>T | CA447425381 | ADRB2 | c.190C>T (p.Leu64=) | |
| 5 | g.148827022T>A | CA361894060 | ADRB2 | c.191T>A (p.Leu64Gln) | |
| 5 | g.148827022T>C | CA361894061 | ADRB2 | c.191T>C (p.Leu64Pro) | dbSNP gnomAD v4 |
| 5 | g.148827022T>G | CA361894062 | ADRB2 | c.191T>G (p.Leu64Arg) | |
| 5 | g.148827022T= | CA1590223601 | ADRB2 | c.191T= (p.Leu64=) | |
| 5 | g.148827023G>A | CA447425387 | ADRB2 | c.192G>A (p.Leu64=) | |
| 5 | g.148827023G>C | CA447425386 | ADRB2 | c.192G>C (p.Leu64=) | |
| 5 | g.148827023G>T | CA447425384 | ADRB2 | c.192G>T (p.Leu64=) | |
| 5 | g.148827024C>A | CA361894063 | ADRB2 | c.193C>A (p.Gln65Lys) | |
| 5 | g.148827024C>G | CA361894065 | ADRB2 | c.193C>G (p.Gln65Glu) | |
| 5 | g.148827024C>T | CA361894064 | ADRB2 | c.193C>T (p.Gln65Ter) | |
| 5 | g.148827025A>C | CA361894066 | ADRB2 | c.194A>C (p.Gln65Pro) | |
| 5 | g.148827025A>G | CA361894067 | ADRB2 | c.194A>G (p.Gln65Arg) | |
| 5 | g.148827025A>T | CA361894068 | ADRB2 | c.194A>T (p.Gln65Leu) | |
| 5 | g.148827026G>A | CA447425390 | ADRB2 | c.195G>A (p.Gln65=) | gnomAD v4 |
| 5 | g.148827026G>C | CA361894069 | ADRB2 | c.195G>C (p.Gln65His) | |
| 5 | g.148827026G>T | CA361894070 | ADRB2 | c.195G>T (p.Gln65His) | |
| 5 | g.148827027A>C | CA361894071 | ADRB2 | c.196A>C (p.Thr66Pro) | |
| 5 | g.148827027A>G | CA361894072 | ADRB2 | c.196A>G (p.Thr66Ala) | |
| 5 | g.148827027A>T | CA361894073 | ADRB2 | c.196A>T (p.Thr66Ser) | |
| 5 | g.148827028C>A | CA361894074 | ADRB2 | c.197C>A (p.Thr66Lys) | |
| 5 | g.148827028C= | CA1590223602 | ADRB2 | c.197C= (p.Thr66=) | |
| 5 | g.148827028C>G | CA361894075 | ADRB2 | c.197C>G (p.Thr66Arg) | |
| 5 | g.148827028C>T | CA3498381 | ADRB2 | c.197C>T (p.Thr66Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.148827029G>A | CA3498382 | ADRB2 | c.198G>A (p.Thr66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827029G>C | CA447425394 | ADRB2 | c.198G>C (p.Thr66=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148827029G= | CA1590223603 | ADRB2 | c.198G= (p.Thr66=) | |
| 5 | g.148827029G>T | CA447425395 | ADRB2 | c.198G>T (p.Thr66=) | |
| 5 | g.148827030G>A | CA361894077 | ADRB2 | c.199G>A (p.Val67Ile) | |
| 5 | g.148827030G>C | CA361894078 | ADRB2 | c.199G>C (p.Val67Leu) | |
| 5 | g.148827030G>T | CA361894076 | ADRB2 | c.199G>T (p.Val67Phe) | |
| 5 | g.148827031T>A | CA361894079 | ADRB2 | c.200T>A (p.Val67Asp) | |
| 5 | g.148827031T>C | CA361894081 | ADRB2 | c.200T>C (p.Val67Ala) | |
| 5 | g.148827031T>G | CA361894080 | ADRB2 | c.200T>G (p.Val67Gly) | |
| 5 | g.148827032C>A | CA447425399 | ADRB2 | c.201C>A (p.Val67=) | |
| 5 | g.148827032C>G | CA447425398 | ADRB2 | c.201C>G (p.Val67=) | |
| 5 | g.148827032C>T | CA447425400 | ADRB2 | c.201C>T (p.Val67=) | gnomAD v4 |
| 5 | g.148827033A>C | CA361894082 | ADRB2 | c.202A>C (p.Thr68Pro) | |
| 5 | g.148827033A>G | CA361894083 | ADRB2 | c.202A>G (p.Thr68Ala) | |
| 5 | g.148827033A>T | CA361894084 | ADRB2 | c.202A>T (p.Thr68Ser) | |
| 5 | g.148827034C>A | CA361894085 | ADRB2 | c.203C>A (p.Thr68Asn) | |
| 5 | g.148827034C>G | CA361894086 | ADRB2 | c.203C>G (p.Thr68Ser) | |
| 5 | g.148827034C>T | CA361894087 | ADRB2 | c.203C>T (p.Thr68Ile) | gnomAD v4 |
| 5 | g.148827035C>A | CA447425404 | ADRB2 | c.204C>A (p.Thr68=) | gnomAD v4 |
| 5 | g.148827035C>G | CA447425406 | ADRB2 | c.204C>G (p.Thr68=) | |
| 5 | g.148827035C>T | CA447425408 | ADRB2 | c.204C>T (p.Thr68=) | |
| 5 | g.148827036A>C | CA361894088 | ADRB2 | c.205A>C (p.Asn69His) | |
| 5 | g.148827036A>G | CA361894089 | ADRB2 | c.205A>G (p.Asn69Asp) | |
| 5 | g.148827036A>T | CA361894090 | ADRB2 | c.205A>T (p.Asn69Tyr) | |
| 5 | g.148827037A= | CA1590223604 | ADRB2 | c.206A= (p.Asn69=) | |
| 5 | g.148827037A>C | CA361894091 | ADRB2 | c.206A>C (p.Asn69Thr) | |
| 5 | g.148827037A>G | CA3498383 | ADRB2 | c.206A>G (p.Asn69Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827037A>T | CA361894092 | ADRB2 | c.206A>T (p.Asn69Ile) | dbSNP |
| 5 | g.148827038C>A | CA361894094 | ADRB2 | c.207C>A (p.Asn69Lys) | |
| 5 | g.148827038C= | CA1590223605 | ADRB2 | c.207C= (p.Asn69=) | |
| 5 | g.148827038C>G | CA361894093 | ADRB2 | c.207C>G (p.Asn69Lys) | |
| 5 | g.148827038C>T | CA447425411 | ADRB2 | c.207C>T (p.Asn69=) | dbSNP |
| 5 | g.148827039T>A | CA361894095 | ADRB2 | c.208T>A (p.Tyr70Asn) | |
| 5 | g.148827039T>C | CA361894096 | ADRB2 | c.208T>C (p.Tyr70His) | |
| 5 | g.148827039T>G | CA361894097 | ADRB2 | c.208T>G (p.Tyr70Asp) | |
| 5 | g.148827040A>C | CA361894098 | ADRB2 | c.209A>C (p.Tyr70Ser) | |
| 5 | g.148827040A>G | CA361894099 | ADRB2 | c.209A>G (p.Tyr70Cys) | |
| 5 | g.148827040A>T | CA361894100 | ADRB2 | c.209A>T (p.Tyr70Phe) | |
| 5 | g.148827040_148827043delinsACTT | CA1590223606 | ADRB2 | c.209_212delinsACTT (p.Tyr70=) | |
| 5 | g.148827041C>A | CA361894101 | ADRB2 | c.210C>A (p.Tyr70Ter) | |
| 5 | g.148827041C= | CA1590223607 | ADRB2 | c.210C= (p.Tyr70=) | |
| 5 | g.148827041C>G | CA361894102 | ADRB2 | c.210C>G (p.Tyr70Ter) | |
| 5 | g.148827041C>T | CA3498384 | ADRB2 | c.210C>T (p.Tyr70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827042_148827044del | CA1082786182 | ADRB2 | c.211_213del (p.Phe71del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148827042T>A | CA361894103 | ADRB2 | c.211T>A (p.Phe71Ile) | |
| 5 | g.148827042T>C | CA361894104 | ADRB2 | c.211T>C (p.Phe71Leu) | |
| 5 | g.148827042T>G | CA361894105 | ADRB2 | c.211T>G (p.Phe71Val) | |
| 5 | g.148827043T>A | CA361894108 | ADRB2 | c.212T>A (p.Phe71Tyr) | |
| 5 | g.148827043T>C | CA361894107 | ADRB2 | c.212T>C (p.Phe71Ser) | |
| 5 | g.148827043T>G | CA361894106 | ADRB2 | c.212T>G (p.Phe71Cys) | |
| 5 | g.148827044C>A | CA361894109 | ADRB2 | c.213C>A (p.Phe71Leu) | |
| 5 | g.148827044C= | CA1590223608 | ADRB2 | c.213C= (p.Phe71=) | |
| 5 | g.148827044C>G | CA361894110 | ADRB2 | c.213C>G (p.Phe71Leu) | |
| 5 | g.148827044C>T | CA447425417 | ADRB2 | c.213C>T (p.Phe71=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.148827045A>C | CA361894111 | ADRB2 | c.214A>C (p.Ile72Leu) | |
| 5 | g.148827045A>G | CA361894112 | ADRB2 | c.214A>G (p.Ile72Val) | gnomAD v4 |
| 5 | g.148827045A>T | CA361894113 | ADRB2 | c.214A>T (p.Ile72Phe) | |
| 5 | g.148827046T>A | CA361894114 | ADRB2 | c.215T>A (p.Ile72Asn) | |
| 5 | g.148827046T>C | CA361894115 | ADRB2 | c.215T>C (p.Ile72Thr) | |
| 5 | g.148827046T>G | CA361894116 | ADRB2 | c.215T>G (p.Ile72Ser) | |
| 5 | g.148827047C>A | CA447425419 | ADRB2 | c.216C>A (p.Ile72=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148827047C= | CA1590223609 | ADRB2 | c.216C= (p.Ile72=) | |
| 5 | g.148827047C>G | CA361894117 | ADRB2 | c.216C>G (p.Ile72Met) | |
| 5 | g.148827047C>T | CA447425420 | ADRB2 | c.216C>T (p.Ile72=) | dbSNP gnomAD v4 |
| 5 | g.148827048A>C | CA361894118 | ADRB2 | c.217A>C (p.Thr73Pro) | |
| 5 | g.148827048A>G | CA361894119 | ADRB2 | c.217A>G (p.Thr73Ala) | gnomAD v4 |
| 5 | g.148827048A>T | CA361894120 | ADRB2 | c.217A>T (p.Thr73Ser) | |
| 5 | g.148827049C>A | CA361894122 | ADRB2 | c.218C>A (p.Thr73Asn) | |
| 5 | g.148827049C= | CA1590223610 | ADRB2 | c.218C= (p.Thr73=) | |
| 5 | g.148827049C>G | CA3498385 | ADRB2 | c.218C>G (p.Thr73Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827049C>T | CA361894121 | ADRB2 | c.218C>T (p.Thr73Ile) | gnomAD v4 |
| 5 | g.148827050T>A | CA447425424 | ADRB2 | c.219T>A (p.Thr73=) | COSMIC |
| 5 | g.148827050T>C | CA447425425 | ADRB2 | c.219T>C (p.Thr73=) | dbSNP gnomAD v4 |
| 5 | g.148827050T>G | CA447425426 | ADRB2 | c.219T>G (p.Thr73=) | |
| 5 | g.148827050T= | CA1590223611 | ADRB2 | c.219T= (p.Thr73=) | |
| 5 | g.148827051T>A | CA361894123 | ADRB2 | c.220T>A (p.Ser74Thr) | |
| 5 | g.148827051T>C | CA361894124 | ADRB2 | c.220T>C (p.Ser74Pro) | |
| 5 | g.148827051T>G | CA361894125 | ADRB2 | c.220T>G (p.Ser74Ala) | |
| 5 | g.148827052C>A | CA361894126 | ADRB2 | c.221C>A (p.Ser74Ter) | |
| 5 | g.148827052C= | CA1590223612 | ADRB2 | c.221C= (p.Ser74=) | |
| 5 | g.148827052C>G | CA361894127 | ADRB2 | c.221C>G (p.Ser74Ter) | |
| 5 | g.148827052C>T | CA3498386 | ADRB2 | c.221C>T (p.Ser74Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.148827053A= | CA1590223613 | ADRB2 | c.222A= (p.Ser74=) | |
| 5 | g.148827053A>C | CA447425427 | ADRB2 | c.222A>C (p.Ser74=) | |
| 5 | g.148827053A>G | CA3498387 | ADRB2 | c.222A>G (p.Ser74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827053A>T | CA447425429 | ADRB2 | c.222A>T (p.Ser74=) | |
| 5 | g.148827054C>A | CA361894128 | ADRB2 | c.223C>A (p.Leu75Met) | |
| 5 | g.148827054C= | CA1590223614 | ADRB2 | c.223C= (p.Leu75=) | |
| 5 | g.148827054C>G | CA361894129 | ADRB2 | c.223C>G (p.Leu75Val) | |
| 5 | g.148827054C>T | CA3498388 | ADRB2 | c.223C>T (p.Leu75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827055T>A | CA361894130 | ADRB2 | c.224T>A (p.Leu75Gln) | |
| 5 | g.148827055T>C | CA361894131 | ADRB2 | c.224T>C (p.Leu75Pro) | |
| 5 | g.148827055T>G | CA361894132 | ADRB2 | c.224T>G (p.Leu75Arg) | |
| 5 | g.148827056G>A | CA447425350 | ADRB2 | c.225G>A (p.Leu75=) | gnomAD v4 |
| 5 | g.148827056G>C | CA447425352 | ADRB2 | c.225G>C (p.Leu75=) | |
| 5 | g.148827056G>T | CA447425353 | ADRB2 | c.225G>T (p.Leu75=) | |
| 5 | g.148827057G>A | CA361894133 | ADRB2 | c.226G>A (p.Ala76Thr) | |
| 5 | g.148827057G>C | CA361894135 | ADRB2 | c.226G>C (p.Ala76Pro) | |
| 5 | g.148827057G>T | CA361894134 | ADRB2 | c.226G>T (p.Ala76Ser) | |
| 5 | g.148827058C>A | CA361894136 | ADRB2 | c.227C>A (p.Ala76Asp) | |
| 5 | g.148827058C>G | CA361894138 | ADRB2 | c.227C>G (p.Ala76Gly) | |
| 5 | g.148827058C>T | CA361894137 | ADRB2 | c.227C>T (p.Ala76Val) | |
| 5 | g.148827059del | CA2675882565 | ADRB2 | c.228del (p.Cys77ValfsTer20) | gnomAD v4 |
| 5 | g.148827059C>A | CA447425356 | ADRB2 | c.228C>A (p.Ala76=) | |
| 5 | g.148827059C>G | CA447425358 | ADRB2 | c.228C>G (p.Ala76=) | |
| 5 | g.148827059C>T | CA447425359 | ADRB2 | c.228C>T (p.Ala76=) | |
| 5 | g.148827060T>A | CA361894139 | ADRB2 | c.229T>A (p.Cys77Ser) | |
| 5 | g.148827060T>C | CA361894141 | ADRB2 | c.229T>C (p.Cys77Arg) | |
| 5 | g.148827060T>G | CA361894140 | ADRB2 | c.229T>G (p.Cys77Gly) | |
| 5 | g.148827061G>A | CA361894142 | ADRB2 | c.230G>A (p.Cys77Tyr) | |
| 5 | g.148827061G>C | CA361894143 | ADRB2 | c.230G>C (p.Cys77Ser) | |
| 5 | g.148827061G>T | CA361894144 | ADRB2 | c.230G>T (p.Cys77Phe) | |
| 5 | g.148827062T>A | CA361894145 | ADRB2 | c.231T>A (p.Cys77Ter) | |
| 5 | g.148827062T>C | CA447425360 | ADRB2 | c.231T>C (p.Cys77=) | |
| 5 | g.148827062T>G | CA361894146 | ADRB2 | c.231T>G (p.Cys77Trp) | |
| 5 | g.148827063G>A | CA361894147 | ADRB2 | c.232G>A (p.Ala78Thr) | |
| 5 | g.148827063G>C | CA361894148 | ADRB2 | c.232G>C (p.Ala78Pro) | |
| 5 | g.148827063G>T | CA361894149 | ADRB2 | c.232G>T (p.Ala78Ser) | |
| 5 | g.148827064C>A | CA361894150 | ADRB2 | c.233C>A (p.Ala78Asp) | |
| 5 | g.148827064C= | CA1590223615 | ADRB2 | c.233C= (p.Ala78=) | |
| 5 | g.148827064C>G | CA361894151 | ADRB2 | c.233C>G (p.Ala78Gly) | |
| 5 | g.148827064C>T | CA361894152 | ADRB2 | c.233C>T (p.Ala78Val) | dbSNP gnomAD v4 |
| 5 | g.148827065T>A | CA447425364 | ADRB2 | c.234T>A (p.Ala78=) | |
| 5 | g.148827065T>C | CA447425365 | ADRB2 | c.234T>C (p.Ala78=) | |
| 5 | g.148827065T>G | CA447425366 | ADRB2 | c.234T>G (p.Ala78=) | |
| 5 | g.148827066G>A | CA361894155 | ADRB2 | c.235G>A (p.Asp79Asn) | |
| 5 | g.148827066G>C | CA361894153 | ADRB2 | c.235G>C (p.Asp79His) | |
| 5 | g.148827066G>T | CA361894154 | ADRB2 | c.235G>T (p.Asp79Tyr) | |
| 5 | g.148827067A= | CA1590223616 | ADRB2 | c.236A= (p.Asp79=) | |
| 5 | g.148827067A>C | CA361894156 | ADRB2 | c.236A>C (p.Asp79Ala) | |
| 5 | g.148827067A>G | CA361894157 | ADRB2 | c.236A>G (p.Asp79Gly) | |
| 5 | g.148827067A>T | CA361894158 | ADRB2 | c.236A>T (p.Asp79Val) | dbSNP |
| 5 | g.148827068T>A | CA361894159 | ADRB2 | c.237T>A (p.Asp79Glu) | |
| 5 | g.148827068T>C | CA447425368 | ADRB2 | c.237T>C (p.Asp79=) | |
| 5 | g.148827068T>G | CA361894160 | ADRB2 | c.237T>G (p.Asp79Glu) | |
| 5 | g.148827069C>A | CA361894161 | ADRB2 | c.238C>A (p.Leu80Met) | |
| 5 | g.148827069C>G | CA361894162 | ADRB2 | c.238C>G (p.Leu80Val) | gnomAD v4 |
| 5 | g.148827069C>T | CA447425369 | ADRB2 | c.238C>T (p.Leu80=) | |
| 5 | g.148827070T>A | CA361894163 | ADRB2 | c.239T>A (p.Leu80Gln) | |
| 5 | g.148827070T>C | CA361894164 | ADRB2 | c.239T>C (p.Leu80Pro) | |
| 5 | g.148827070T>G | CA361894165 | ADRB2 | c.239T>G (p.Leu80Arg) | |
| 5 | g.148827071G>A | CA447425371 | ADRB2 | c.240G>A (p.Leu80=) | dbSNP gnomAD v4 |
| 5 | g.148827071G>C | CA447425372 | ADRB2 | c.240G>C (p.Leu80=) | |
| 5 | g.148827071G>T | CA447425373 | ADRB2 | c.240G>T (p.Leu80=) | |
| 5 | g.148827072G>A | CA361894168 | ADRB2 | c.241G>A (p.Val81Ile) | |
| 5 | g.148827072G>C | CA361894167 | ADRB2 | c.241G>C (p.Val81Leu) | gnomAD v4 |
| 5 | g.148827072G>T | CA361894166 | ADRB2 | c.241G>T (p.Val81Phe) | |
| 5 | g.148827073T>A | CA361894169 | ADRB2 | c.242T>A (p.Val81Asp) | |
| 5 | g.148827073T>C | CA361894170 | ADRB2 | c.242T>C (p.Val81Ala) | |
| 5 | g.148827073T>G | CA361894171 | ADRB2 | c.242T>G (p.Val81Gly) | |
| 5 | g.148827074C>A | CA447425377 | ADRB2 | c.243C>A (p.Val81=) | gnomAD v4 |
| 5 | g.148827074C>G | CA447425376 | ADRB2 | c.243C>G (p.Val81=) | |
| 5 | g.148827074C>T | CA447425375 | ADRB2 | c.243C>T (p.Val81=) | gnomAD v4 |
| 5 | g.148827075A>C | CA361894172 | ADRB2 | c.244A>C (p.Met82Leu) | |
| 5 | g.148827075A>G | CA361894173 | ADRB2 | c.244A>G (p.Met82Val) | |
| 5 | g.148827075A>T | CA361894174 | ADRB2 | c.244A>T (p.Met82Leu) | |
| 5 | g.148827076T>A | CA3498389 | ADRB2 | c.245T>A (p.Met82Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827076T>C | CA361894175 | ADRB2 | c.245T>C (p.Met82Thr) | COSMIC |
| 5 | g.148827076T>G | CA361894176 | ADRB2 | c.245T>G (p.Met82Arg) | |
| 5 | g.148827076T= | CA1590223617 | ADRB2 | c.245T= (p.Met82=) | |
| 5 | g.148827077G>A | CA361894177 | ADRB2 | c.246G>A (p.Met82Ile) | |
| 5 | g.148827077G>C | CA361894178 | ADRB2 | c.246G>C (p.Met82Ile) | |
| 5 | g.148827077G>T | CA361894179 | ADRB2 | c.246G>T (p.Met82Ile) | |
| 5 | g.148827078G>A | CA361894181 | ADRB2 | c.247G>A (p.Gly83Ser) | gnomAD v4 |
| 5 | g.148827078G>C | CA361894180 | ADRB2 | c.247G>C (p.Gly83Arg) | gnomAD v4 |
| 5 | g.148827078G= | CA1590223618 | ADRB2 | c.247G= (p.Gly83=) | |
| 5 | g.148827078G>T | CA3498390 | ADRB2 | c.247G>T (p.Gly83Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827079G>A | CA3498391 | ADRB2 | c.248G>A (p.Gly83Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827079G>C | CA361894182 | ADRB2 | c.248G>C (p.Gly83Ala) | |
| 5 | g.148827079G= | CA1590223619 | ADRB2 | c.248G= (p.Gly83=) | |
| 5 | g.148827079G>T | CA361894183 | ADRB2 | c.248G>T (p.Gly83Val) | |
| 5 | g.148827080C>A | CA447425382 | ADRB2 | c.249C>A (p.Gly83=) | |
| 5 | g.148827080C>G | CA447425383 | ADRB2 | c.249C>G (p.Gly83=) | gnomAD v4 |
| 5 | g.148827080C>T | CA447425385 | ADRB2 | c.249C>T (p.Gly83=) | COSMIC |
| 5 | g.148827081C>A | CA361894184 | ADRB2 | c.250C>A (p.Leu84Met) | |
| 5 | g.148827081C= | CA1590223620 | ADRB2 | c.250C= (p.Leu84=) | |
| 5 | g.148827081C>G | CA361894185 | ADRB2 | c.250C>G (p.Leu84Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.148827081C>T | CA447425388 | ADRB2 | c.250C>T (p.Leu84=) | |
| 5 | g.148827082T>A | CA361894186 | ADRB2 | c.251T>A (p.Leu84Gln) | |
| 5 | g.148827082T>C | CA361894187 | ADRB2 | c.251T>C (p.Leu84Pro) | |
| 5 | g.148827082T>G | CA361894188 | ADRB2 | c.251T>G (p.Leu84Arg) | |
| 5 | g.148827083G>A | CA3498392 | ADRB2 | c.252G>A (p.Leu84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148827083G>C | CA3498393 | ADRB2 | c.252G>C (p.Leu84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827083G= | CA1590223621 | ADRB2 | c.252G= (p.Leu84=) | |
| 5 | g.148827083G>T | CA447425389 | ADRB2 | c.252G>T (p.Leu84=) | |
| 5 | g.148827084G>A | CA361894189 | ADRB2 | c.253G>A (p.Ala85Thr) | |
| 5 | g.148827084G>C | CA361894190 | ADRB2 | c.253G>C (p.Ala85Pro) | |
| 5 | g.148827084G>T | CA361894191 | ADRB2 | c.253G>T (p.Ala85Ser) | |
| 5 | g.148827085C>A | CA361894193 | ADRB2 | c.254C>A (p.Ala85Glu) | COSMIC |
| 5 | g.148827085C>G | CA361894194 | ADRB2 | c.254C>G (p.Ala85Gly) | |
| 5 | g.148827085C>T | CA361894192 | ADRB2 | c.254C>T (p.Ala85Val) | |
| 5 | g.148827086A>C | CA447425391 | ADRB2 | c.255A>C (p.Ala85=) | |
| 5 | g.148827086A>G | CA447425392 | ADRB2 | c.255A>G (p.Ala85=) | |
| 5 | g.148827086A>T | CA447425393 | ADRB2 | c.255A>T (p.Ala85=) | |
| 5 | g.148827087G>A | CA361894195 | ADRB2 | c.256G>A (p.Val86Met) | |
| 5 | g.148827087G>C | CA361894196 | ADRB2 | c.256G>C (p.Val86Leu) | |
| 5 | g.148827087G>T | CA361894197 | ADRB2 | c.256G>T (p.Val86Leu) | |
| 5 | g.148827088T>A | CA361894198 | ADRB2 | c.257T>A (p.Val86Glu) | |
| 5 | g.148827088T>C | CA361894199 | ADRB2 | c.257T>C (p.Val86Ala) | |
| 5 | g.148827088T>G | CA361894200 | ADRB2 | c.257T>G (p.Val86Gly) | |
| 5 | g.148827089G>A | CA3498394 | ADRB2 | c.258G>A (p.Val86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827089G>C | CA447425396 | ADRB2 | c.258G>C (p.Val86=) | |
| 5 | g.148827089G= | CA1590223622 | ADRB2 | c.258G= (p.Val86=) | |
| 5 | g.148827089G>T | CA447425397 | ADRB2 | c.258G>T (p.Val86=) | |
| 5 | g.148827090G>A | CA361894201 | ADRB2 | c.259G>A (p.Val87Met) | |
| 5 | g.148827090G>C | CA361894202 | ADRB2 | c.259G>C (p.Val87Leu) | |
| 5 | g.148827090G>T | CA361894203 | ADRB2 | c.259G>T (p.Val87Leu) | |
| 5 | g.148827091T>A | CA361894204 | ADRB2 | c.260T>A (p.Val87Glu) | |
| 5 | g.148827091T>C | CA361894205 | ADRB2 | c.260T>C (p.Val87Ala) | |
| 5 | g.148827091T>G | CA361894206 | ADRB2 | c.260T>G (p.Val87Gly) | gnomAD v4 |
| 5 | g.148827092G>A | CA447425401 | ADRB2 | c.261G>A (p.Val87=) | dbSNP |
| 5 | g.148827092G>C | CA447425402 | ADRB2 | c.261G>C (p.Val87=) | |
| 5 | g.148827092G= | CA1590223623 | ADRB2 | c.261G= (p.Val87=) | |
| 5 | g.148827092G>T | CA447425403 | ADRB2 | c.261G>T (p.Val87=) | |
| 5 | g.148827093C>A | CA361894209 | ADRB2 | c.262C>A (p.Pro88Thr) | |
| 5 | g.148827093C>G | CA361894208 | ADRB2 | c.262C>G (p.Pro88Ala) | |
| 5 | g.148827093C>T | CA361894207 | ADRB2 | c.262C>T (p.Pro88Ser) | |
| 5 | g.148827094C>A | CA3498395 | ADRB2 | c.263C>A (p.Pro88His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148827094C= | CA1590223624 | ADRB2 | c.263C= (p.Pro88=) | |
| 5 | g.148827094C>G | CA361894210 | ADRB2 | c.263C>G (p.Pro88Arg) | |
| 5 | g.148827094C>T | CA361894211 | ADRB2 | c.263C>T (p.Pro88Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.148827095C>A | CA447425409 | ADRB2 | c.264C>A (p.Pro88=) | |
| 5 | g.148827095C>G | CA447425407 | ADRB2 | c.264C>G (p.Pro88=) | |
| 5 | g.148827095C>T | CA447425405 | ADRB2 | c.264C>T (p.Pro88=) | |
| 5 | g.148827096T>A | CA361894212 | ADRB2 | c.265T>A (p.Phe89Ile) | |
| 5 | g.148827096T>C | CA129772936 | ADRB2 | c.265T>C (p.Phe89Leu) | dbSNP gnomAD v4 |
| 5 | g.148827096T>G | CA361894213 | ADRB2 | c.265T>G (p.Phe89Val) | gnomAD v4 |
| 5 | g.148827096T= | CA1590223625 | ADRB2 | c.265T= (p.Phe89=) | |
| 5 | g.148827097T>A | CA361894214 | ADRB2 | c.266T>A (p.Phe89Tyr) | |
| 5 | g.148827097T>C | CA361894215 | ADRB2 | c.266T>C (p.Phe89Ser) | |
| 5 | g.148827097T>G | CA361894216 | ADRB2 | c.266T>G (p.Phe89Cys) |