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 |
|---|---|---|---|---|---|
| 3 | g.148741522G>A | CA2657336 | AGTR1 | c.487G>A (p.Ala163Thr) c.574G>A (p.Ala192Thr) c.592G>A (p.Ala198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.148741522G>C | CA354887751 | AGTR1 | c.487G>C (p.Ala163Pro) c.574G>C (p.Ala192Pro) c.592G>C (p.Ala198Pro) | |
| 3 | g.148741522G= | CA1409909785 | AGTR1 | c.487G= (p.Ala163=) c.574G= (p.Ala192=) c.592G= (p.Ala198=) | |
| 3 | g.148741522G>T | CA354887757 | AGTR1 | c.487G>T (p.Ala163Ser) c.574G>T (p.Ala192Ser) c.592G>T (p.Ala198Ser) | |
| 3 | g.148741523C>A | CA354887759 | AGTR1 | c.488C>A (p.Ala163Asp) c.575C>A (p.Ala192Asp) c.593C>A (p.Ala198Asp) | |
| 3 | g.148741523C>G | CA354887761 | AGTR1 | c.488C>G (p.Ala163Gly) c.575C>G (p.Ala192Gly) c.593C>G (p.Ala198Gly) | |
| 3 | g.148741523C>T | CA354887763 | AGTR1 | c.488C>T (p.Ala163Val) c.575C>T (p.Ala192Val) c.593C>T (p.Ala198Val) | |
| 3 | g.148741524T>A | CA436389442 | AGTR1 | c.489T>A (p.Ala163=) c.576T>A (p.Ala192=) c.594T>A (p.Ala198=) | |
| 3 | g.148741524T>C | CA436389443 | AGTR1 | c.489T>C (p.Ala163=) c.576T>C (p.Ala192=) c.594T>C (p.Ala198=) | |
| 3 | g.148741524T>G | CA436389444 | AGTR1 | c.489T>G (p.Ala163=) c.576T>G (p.Ala192=) c.594T>G (p.Ala198=) | |
| 3 | g.148741525A= | CA1409909789 | AGTR1 | c.490A= (p.Ile164=) c.577A= (p.Ile193=) c.595A= (p.Ile199=) | |
| 3 | g.148741525A>C | CA354887766 | AGTR1 | c.490A>C (p.Ile164Leu) c.577A>C (p.Ile193Leu) c.595A>C (p.Ile199Leu) | |
| 3 | g.148741525A>G | CA354887767 | AGTR1 | c.490A>G (p.Ile164Val) c.577A>G (p.Ile193Val) c.595A>G (p.Ile199Val) | dbSNP |
| 3 | g.148741525A>T | CA354887768 | AGTR1 | c.490A>T (p.Ile164Leu) c.577A>T (p.Ile193Leu) c.595A>T (p.Ile199Leu) | |
| 3 | g.148741526T>A | CA354887773 | AGTR1 | c.491T>A (p.Ile164Lys) c.578T>A (p.Ile193Lys) c.596T>A (p.Ile199Lys) | |
| 3 | g.148741526T>C | CA354887770 | AGTR1 | c.491T>C (p.Ile164Thr) c.578T>C (p.Ile193Thr) c.596T>C (p.Ile199Thr) | |
| 3 | g.148741526T>G | CA354887771 | AGTR1 | c.491T>G (p.Ile164Arg) c.578T>G (p.Ile193Arg) c.596T>G (p.Ile199Arg) | |
| 3 | g.148741527A>C | CA436389445 | AGTR1 | c.492A>C (p.Ile164=) c.579A>C (p.Ile193=) c.597A>C (p.Ile199=) | |
| 3 | g.148741527A>G | CA354887774 | AGTR1 | c.492A>G (p.Ile164Met) c.579A>G (p.Ile193Met) c.597A>G (p.Ile199Met) | |
| 3 | g.148741527A>T | CA436389446 | AGTR1 | c.492A>T (p.Ile164=) c.579A>T (p.Ile193=) c.597A>T (p.Ile199=) | |
| 3 | g.148741528A>C | CA354887776 | AGTR1 | c.493A>C (p.Ile165Leu) c.580A>C (p.Ile194Leu) c.598A>C (p.Ile200Leu) | |
| 3 | g.148741528A>G | CA354887778 | AGTR1 | c.493A>G (p.Ile165Val) c.580A>G (p.Ile194Val) c.598A>G (p.Ile200Val) | |
| 3 | g.148741528A>T | CA354887779 | AGTR1 | c.493A>T (p.Ile165Phe) c.580A>T (p.Ile194Phe) c.598A>T (p.Ile200Phe) | |
| 3 | g.148741529T>A | CA354887781 | AGTR1 | c.494T>A (p.Ile165Asn) c.581T>A (p.Ile194Asn) c.599T>A (p.Ile200Asn) | |
| 3 | g.148741529T>C | CA354887783 | AGTR1 | c.494T>C (p.Ile165Thr) c.581T>C (p.Ile194Thr) c.599T>C (p.Ile200Thr) | gnomAD v4 |
| 3 | g.148741529T>G | CA354887785 | AGTR1 | c.494T>G (p.Ile165Ser) c.581T>G (p.Ile194Ser) c.599T>G (p.Ile200Ser) | |
| 3 | g.148741530C>A | CA436389447 | AGTR1 | c.495C>A (p.Ile165=) c.582C>A (p.Ile194=) c.600C>A (p.Ile200=) | |
| 3 | g.148741530C>G | CA354887786 | AGTR1 | c.495C>G (p.Ile165Met) c.582C>G (p.Ile194Met) c.600C>G (p.Ile200Met) | COSMIC |
| 3 | g.148741530C>T | CA436389448 | AGTR1 | c.495C>T (p.Ile165=) c.582C>T (p.Ile194=) c.600C>T (p.Ile200=) | |
| 3 | g.148741531C>A | CA354887787 | AGTR1 | c.496C>A (p.His166Asn) c.583C>A (p.His195Asn) c.601C>A (p.His201Asn) | |
| 3 | g.148741531C>G | CA354887788 | AGTR1 | c.496C>G (p.His166Asp) c.583C>G (p.His195Asp) c.601C>G (p.His201Asp) | |
| 3 | g.148741531C>T | CA354887789 | AGTR1 | c.496C>T (p.His166Tyr) c.583C>T (p.His195Tyr) c.601C>T (p.His201Tyr) | COSMIC |
| 3 | g.148741532A= | CA1409909791 | AGTR1 | c.497A= (p.His166=) c.584A= (p.His195=) c.602A= (p.His201=) | |
| 3 | g.148741532A>C | CA354887793 | AGTR1 | c.497A>C (p.His166Pro) c.584A>C (p.His195Pro) c.602A>C (p.His201Pro) | |
| 3 | g.148741532A>G | CA354887792 | AGTR1 | c.497A>G (p.His166Arg) c.584A>G (p.His195Arg) c.602A>G (p.His201Arg) | gnomAD v4 |
| 3 | g.148741532A>T | CA354887791 | AGTR1 | c.497A>T (p.His166Leu) c.584A>T (p.His195Leu) c.602A>T (p.His201Leu) | dbSNP gnomAD v4 |
| 3 | g.148741533T>A | CA354887795 | AGTR1 | c.498T>A (p.His166Gln) c.585T>A (p.His195Gln) c.603T>A (p.His201Gln) | |
| 3 | g.148741533T>C | CA436389449 | AGTR1 | c.498T>C (p.His166=) c.585T>C (p.His195=) c.603T>C (p.His201=) | |
| 3 | g.148741533T>G | CA354887797 | AGTR1 | c.498T>G (p.His166Gln) c.585T>G (p.His195Gln) c.603T>G (p.His201Gln) | |
| 3 | g.148741534C>A | CA436389450 | AGTR1 | c.499C>A (p.Arg167=) c.586C>A (p.Arg196=) c.604C>A (p.Arg202=) | |
| 3 | g.148741534C= | CA1409909794 | AGTR1 | c.499C= (p.Arg167=) c.586C= (p.Arg196=) c.604C= (p.Arg202=) | |
| 3 | g.148741534C>G | CA354887798 | AGTR1 | c.499C>G (p.Arg167Gly) c.586C>G (p.Arg196Gly) c.604C>G (p.Arg202Gly) | |
| 3 | g.148741534C>T | CA2657337 | AGTR1 | c.499C>T (p.Arg167Ter) c.586C>T (p.Arg196Ter) c.604C>T (p.Arg202Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741535G>A | CA2657338 | AGTR1 | c.500G>A (p.Arg167Gln) c.587G>A (p.Arg196Gln) c.605G>A (p.Arg202Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.148741535G>C | CA354887801 | AGTR1 | c.500G>C (p.Arg167Pro) c.587G>C (p.Arg196Pro) c.605G>C (p.Arg202Pro) | |
| 3 | g.148741535G= | CA1409909798 | AGTR1 | c.500G= (p.Arg167=) c.587G= (p.Arg196=) c.605G= (p.Arg202=) | |
| 3 | g.148741535G>T | CA354887803 | AGTR1 | c.500G>T (p.Arg167Leu) c.587G>T (p.Arg196Leu) c.605G>T (p.Arg202Leu) | |
| 3 | g.148741536A>C | CA436389451 | AGTR1 | c.501A>C (p.Arg167=) c.588A>C (p.Arg196=) c.606A>C (p.Arg202=) | |
| 3 | g.148741536A>G | CA436389452 | AGTR1 | c.501A>G (p.Arg167=) c.588A>G (p.Arg196=) c.606A>G (p.Arg202=) | gnomAD v4 |
| 3 | g.148741536A>T | CA436389453 | AGTR1 | c.501A>T (p.Arg167=) c.588A>T (p.Arg196=) c.606A>T (p.Arg202=) | |
| 3 | g.148741538del | CA2668116561 | AGTR1 | c.503del (p.Asn168MetfsTer26) c.590del (p.Asn197MetfsTer26) c.608del (p.Asn203MetfsTer26) | gnomAD v4 |
| 3 | g.148741537A>C | CA354887805 | AGTR1 | c.502A>C (p.Asn168His) c.589A>C (p.Asn197His) c.607A>C (p.Asn203His) | |
| 3 | g.148741537A>G | CA354887806 | AGTR1 | c.502A>G (p.Asn168Asp) c.589A>G (p.Asn197Asp) c.607A>G (p.Asn203Asp) | |
| 3 | g.148741537A>T | CA354887807 | AGTR1 | c.502A>T (p.Asn168Tyr) c.589A>T (p.Asn197Tyr) c.607A>T (p.Asn203Tyr) | |
| 3 | g.148741538A= | CA1409909805 | AGTR1 | c.503A= (p.Asn168=) c.590A= (p.Asn197=) c.608A= (p.Asn203=) | |
| 3 | g.148741538A>C | CA354887809 | AGTR1 | c.503A>C (p.Asn168Thr) c.590A>C (p.Asn197Thr) c.608A>C (p.Asn203Thr) | dbSNP |
| 3 | g.148741538A>G | CA354887811 | AGTR1 | c.503A>G (p.Asn168Ser) c.590A>G (p.Asn197Ser) c.608A>G (p.Asn203Ser) | |
| 3 | g.148741538A>T | CA354887812 | AGTR1 | c.503A>T (p.Asn168Ile) c.590A>T (p.Asn197Ile) c.608A>T (p.Asn203Ile) | |
| 3 | g.148741539T>A | CA354887814 | AGTR1 | c.504T>A (p.Asn168Lys) c.591T>A (p.Asn197Lys) c.609T>A (p.Asn203Lys) | |
| 3 | g.148741539T>C | CA436389454 | AGTR1 | c.504T>C (p.Asn168=) c.591T>C (p.Asn197=) c.609T>C (p.Asn203=) | |
| 3 | g.148741539T>G | CA354887815 | AGTR1 | c.504T>G (p.Asn168Lys) c.591T>G (p.Asn197Lys) c.609T>G (p.Asn203Lys) | |
| 3 | g.148741540G>A | CA354887821 | AGTR1 | c.505G>A (p.Val169Ile) c.592G>A (p.Val198Ile) c.610G>A (p.Val204Ile) | |
| 3 | g.148741540G>C | CA354887819 | AGTR1 | c.505G>C (p.Val169Leu) c.592G>C (p.Val198Leu) c.610G>C (p.Val204Leu) | |
| 3 | g.148741540G>T | CA354887818 | AGTR1 | c.505G>T (p.Val169Leu) c.592G>T (p.Val198Leu) c.610G>T (p.Val204Leu) | |
| 3 | g.148741541T>A | CA354887823 | AGTR1 | c.506T>A (p.Val169Glu) c.593T>A (p.Val198Glu) c.611T>A (p.Val204Glu) | |
| 3 | g.148741541T>C | CA354887825 | AGTR1 | c.506T>C (p.Val169Ala) c.593T>C (p.Val198Ala) c.611T>C (p.Val204Ala) | gnomAD v4 |
| 3 | g.148741541T>G | CA354887826 | AGTR1 | c.506T>G (p.Val169Gly) c.593T>G (p.Val198Gly) c.611T>G (p.Val204Gly) | |
| 3 | g.148741542A= | CA1409909811 | AGTR1 | c.507A= (p.Val169=) c.594A= (p.Val198=) c.612A= (p.Val204=) | |
| 3 | g.148741542A>C | CA436389455 | AGTR1 | c.507A>C (p.Val169=) c.594A>C (p.Val198=) c.612A>C (p.Val204=) | |
| 3 | g.148741542A>G | CA85497752 | AGTR1 | c.507A>G (p.Val169=) c.594A>G (p.Val198=) c.612A>G (p.Val204=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741542A>T | CA436389456 | AGTR1 | c.507A>T (p.Val169=) c.594A>T (p.Val198=) c.612A>T (p.Val204=) | |
| 3 | g.148741542_148741544delinsATT | CA1409909810 | AGTR1 | c.507_509delinsATT (p.Val169=) c.594_596delinsATT (p.Val198=) c.612_614delinsATT (p.Val204=) | |
| 3 | g.148741543T>A | CA354887828 | AGTR1 | c.508T>A (p.Phe170Ile) c.595T>A (p.Phe199Ile) c.613T>A (p.Phe205Ile) | |
| 3 | g.148741543T>C | CA354887830 | AGTR1 | c.508T>C (p.Phe170Leu) c.595T>C (p.Phe199Leu) c.613T>C (p.Phe205Leu) | |
| 3 | g.148741543T>G | CA354887831 | AGTR1 | c.508T>G (p.Phe170Val) c.595T>G (p.Phe199Val) c.613T>G (p.Phe205Val) | |
| 3 | g.148741546_148741547del | CA2657339 | AGTR1 | c.511_512del (p.Phe171HisfsTer2) c.598_599del (p.Phe200HisfsTer2) c.616_617del (p.Phe206HisfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741544T>A | CA354887834 | AGTR1 | c.509T>A (p.Phe170Tyr) c.596T>A (p.Phe199Tyr) c.614T>A (p.Phe205Tyr) | |
| 3 | g.148741544T>C | CA354887835 | AGTR1 | c.509T>C (p.Phe170Ser) c.596T>C (p.Phe199Ser) c.614T>C (p.Phe205Ser) | |
| 3 | g.148741544T>G | CA354887837 | AGTR1 | c.509T>G (p.Phe170Cys) c.596T>G (p.Phe199Cys) c.614T>G (p.Phe205Cys) | |
| 3 | g.148741545T>A | CA354887839 | AGTR1 | c.510T>A (p.Phe170Leu) c.597T>A (p.Phe199Leu) c.615T>A (p.Phe205Leu) | |
| 3 | g.148741545T>C | CA436389457 | AGTR1 | c.510T>C (p.Phe170=) c.597T>C (p.Phe199=) c.615T>C (p.Phe205=) | |
| 3 | g.148741545T>G | CA354887841 | AGTR1 | c.510T>G (p.Phe170Leu) c.597T>G (p.Phe199Leu) c.615T>G (p.Phe205Leu) | |
| 3 | g.148741546T>A | CA354887843 | AGTR1 | c.511T>A (p.Phe171Ile) c.598T>A (p.Phe200Ile) c.616T>A (p.Phe206Ile) | |
| 3 | g.148741546T>C | CA354887845 | AGTR1 | c.511T>C (p.Phe171Leu) c.598T>C (p.Phe200Leu) c.616T>C (p.Phe206Leu) | |
| 3 | g.148741546T>G | CA354887842 | AGTR1 | c.511T>G (p.Phe171Val) c.598T>G (p.Phe200Val) c.616T>G (p.Phe206Val) | |
| 3 | g.148741547T>A | CA354887847 | AGTR1 | c.512T>A (p.Phe171Tyr) c.599T>A (p.Phe200Tyr) c.617T>A (p.Phe206Tyr) | |
| 3 | g.148741547T>C | CA354887848 | AGTR1 | c.512T>C (p.Phe171Ser) c.599T>C (p.Phe200Ser) c.617T>C (p.Phe206Ser) | |
| 3 | g.148741547T>G | CA354887850 | AGTR1 | c.512T>G (p.Phe171Cys) c.599T>G (p.Phe200Cys) c.617T>G (p.Phe206Cys) | |
| 3 | g.148741548C>A | CA354887851 | AGTR1 | c.513C>A (p.Phe171Leu) c.600C>A (p.Phe200Leu) c.618C>A (p.Phe206Leu) | |
| 3 | g.148741548C>G | CA354887853 | AGTR1 | c.513C>G (p.Phe171Leu) c.600C>G (p.Phe200Leu) c.618C>G (p.Phe206Leu) | COSMIC |
| 3 | g.148741548C>T | CA436389458 | AGTR1 | c.513C>T (p.Phe171=) c.600C>T (p.Phe200=) c.618C>T (p.Phe206=) | |
| 3 | g.148741549A>C | CA354887855 | AGTR1 | c.514A>C (p.Ile172Leu) c.601A>C (p.Ile201Leu) c.619A>C (p.Ile207Leu) | |
| 3 | g.148741549A>G | CA354887857 | AGTR1 | c.514A>G (p.Ile172Val) c.601A>G (p.Ile201Val) c.619A>G (p.Ile207Val) | |
| 3 | g.148741549A>T | CA354887858 | AGTR1 | c.514A>T (p.Ile172Phe) c.601A>T (p.Ile201Phe) c.619A>T (p.Ile207Phe) | |
| 3 | g.148741550T>A | CA354887860 | AGTR1 | c.515T>A (p.Ile172Asn) c.602T>A (p.Ile201Asn) c.620T>A (p.Ile207Asn) | |
| 3 | g.148741550T>C | CA2657340 | AGTR1 | c.515T>C (p.Ile172Thr) c.602T>C (p.Ile201Thr) c.620T>C (p.Ile207Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741550T>G | CA354887863 | AGTR1 | c.515T>G (p.Ile172Ser) c.602T>G (p.Ile201Ser) c.620T>G (p.Ile207Ser) | |
| 3 | g.148741550T= | CA1409909815 | AGTR1 | c.515T= (p.Ile172=) c.602T= (p.Ile201=) c.620T= (p.Ile207=) | |
| 3 | g.148741551T>A | CA436389459 | AGTR1 | c.516T>A (p.Ile172=) c.603T>A (p.Ile201=) c.621T>A (p.Ile207=) | |
| 3 | g.148741551T>C | CA436389460 | AGTR1 | c.516T>C (p.Ile172=) c.603T>C (p.Ile201=) c.621T>C (p.Ile207=) | |
| 3 | g.148741551T>G | CA354887865 | AGTR1 | c.516T>G (p.Ile172Met) c.603T>G (p.Ile201Met) c.621T>G (p.Ile207Met) | gnomAD v4 |
| 3 | g.148741552G>A | CA354887867 | AGTR1 | c.517G>A (p.Glu173Lys) c.604G>A (p.Glu202Lys) c.622G>A (p.Glu208Lys) | |
| 3 | g.148741552G>C | CA85497764 | AGTR1 | c.517G>C (p.Glu173Gln) c.604G>C (p.Glu202Gln) c.622G>C (p.Glu208Gln) | dbSNP gnomAD v4 |
| 3 | g.148741552G= | CA1409909817 | AGTR1 | c.517G= (p.Glu173=) c.604G= (p.Glu202=) c.622G= (p.Glu208=) | |
| 3 | g.148741552G>T | CA354887866 | AGTR1 | c.517G>T (p.Glu173Ter) c.604G>T (p.Glu202Ter) c.622G>T (p.Glu208Ter) | |
| 3 | g.148741553A>C | CA354887868 | AGTR1 | c.518A>C (p.Glu173Ala) c.605A>C (p.Glu202Ala) c.623A>C (p.Glu208Ala) | |
| 3 | g.148741553A>G | CA354887869 | AGTR1 | c.518A>G (p.Glu173Gly) c.605A>G (p.Glu202Gly) c.623A>G (p.Glu208Gly) | |
| 3 | g.148741553A>T | CA354887870 | AGTR1 | c.518A>T (p.Glu173Val) c.605A>T (p.Glu202Val) c.623A>T (p.Glu208Val) | |
| 3 | g.148741554G>A | CA436389461 | AGTR1 | c.519G>A (p.Glu173=) c.606G>A (p.Glu202=) c.624G>A (p.Glu208=) | gnomAD v4 |
| 3 | g.148741554G>C | CA354887872 | AGTR1 | c.519G>C (p.Glu173Asp) c.606G>C (p.Glu202Asp) c.624G>C (p.Glu208Asp) | |
| 3 | g.148741554G>T | CA354887874 | AGTR1 | c.519G>T (p.Glu173Asp) c.606G>T (p.Glu202Asp) c.624G>T (p.Glu208Asp) | |
| 3 | g.148741555A>C | CA354887879 | AGTR1 | c.520A>C (p.Asn174His) c.607A>C (p.Asn203His) c.625A>C (p.Asn209His) | |
| 3 | g.148741555A>G | CA354887875 | AGTR1 | c.520A>G (p.Asn174Asp) c.607A>G (p.Asn203Asp) c.625A>G (p.Asn209Asp) | |
| 3 | g.148741555A>T | CA354887877 | AGTR1 | c.520A>T (p.Asn174Tyr) c.607A>T (p.Asn203Tyr) c.625A>T (p.Asn209Tyr) | |
| 3 | g.148741556A= | CA1409909819 | AGTR1 | c.521A= (p.Asn174=) c.608A= (p.Asn203=) c.626A= (p.Asn209=) | |
| 3 | g.148741556A>C | CA354887881 | AGTR1 | c.521A>C (p.Asn174Thr) c.608A>C (p.Asn203Thr) c.626A>C (p.Asn209Thr) | |
| 3 | g.148741556A>G | CA354887882 | AGTR1 | c.521A>G (p.Asn174Ser) c.608A>G (p.Asn203Ser) c.626A>G (p.Asn209Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.148741556A>T | CA354887883 | AGTR1 | c.521A>T (p.Asn174Ile) c.608A>T (p.Asn203Ile) c.626A>T (p.Asn209Ile) | |
| 3 | g.148741557C>A | CA354887884 | AGTR1 | c.522C>A (p.Asn174Lys) c.609C>A (p.Asn203Lys) c.627C>A (p.Asn209Lys) | |
| 3 | g.148741557C= | CA1409909821 | AGTR1 | c.522C= (p.Asn174=) c.609C= (p.Asn203=) c.627C= (p.Asn209=) | |
| 3 | g.148741557C>G | CA354887885 | AGTR1 | c.522C>G (p.Asn174Lys) c.609C>G (p.Asn203Lys) c.627C>G (p.Asn209Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.148741557C>T | CA436389464 | AGTR1 | c.522C>T (p.Asn174=) c.609C>T (p.Asn203=) c.627C>T (p.Asn209=) | gnomAD v4 |
| 3 | g.148741558A>C | CA354887889 | AGTR1 | c.523A>C (p.Thr175Pro) c.610A>C (p.Thr204Pro) c.628A>C (p.Thr210Pro) | |
| 3 | g.148741558A>G | CA354887888 | AGTR1 | c.523A>G (p.Thr175Ala) c.610A>G (p.Thr204Ala) c.628A>G (p.Thr210Ala) | |
| 3 | g.148741558A>T | CA354887887 | AGTR1 | c.523A>T (p.Thr175Ser) c.610A>T (p.Thr204Ser) c.628A>T (p.Thr210Ser) | |
| 3 | g.148741559C>A | CA354887891 | AGTR1 | c.524C>A (p.Thr175Asn) c.611C>A (p.Thr204Asn) c.629C>A (p.Thr210Asn) | |
| 3 | g.148741559C>G | CA354887894 | AGTR1 | c.524C>G (p.Thr175Ser) c.611C>G (p.Thr204Ser) c.629C>G (p.Thr210Ser) | |
| 3 | g.148741559C>T | CA354887893 | AGTR1 | c.524C>T (p.Thr175Ile) c.611C>T (p.Thr204Ile) c.629C>T (p.Thr210Ile) | |
| 3 | g.148741560C>A | CA436389466 | AGTR1 | c.525C>A (p.Thr175=) c.612C>A (p.Thr204=) c.630C>A (p.Thr210=) | |
| 3 | g.148741560C= | CA1409909823 | AGTR1 | c.525C= (p.Thr175=) c.612C= (p.Thr204=) c.630C= (p.Thr210=) | |
| 3 | g.148741560C>G | CA436389468 | AGTR1 | c.525C>G (p.Thr175=) c.612C>G (p.Thr204=) c.630C>G (p.Thr210=) | |
| 3 | g.148741560C>T | CA2657341 | AGTR1 | c.525C>T (p.Thr175=) c.612C>T (p.Thr204=) c.630C>T (p.Thr210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741561A>C | CA354887896 | AGTR1 | c.526A>C (p.Asn176His) c.613A>C (p.Asn205His) c.631A>C (p.Asn211His) | |
| 3 | g.148741561A>G | CA354887897 | AGTR1 | c.526A>G (p.Asn176Asp) c.613A>G (p.Asn205Asp) c.631A>G (p.Asn211Asp) | |
| 3 | g.148741561A>T | CA354887898 | AGTR1 | c.526A>T (p.Asn176Tyr) c.613A>T (p.Asn205Tyr) c.631A>T (p.Asn211Tyr) | |
| 3 | g.148741562A= | CA1409909827 | AGTR1 | c.527A= (p.Asn176=) c.614A= (p.Asn205=) c.632A= (p.Asn211=) | |
| 3 | g.148741562A>C | CA354887900 | AGTR1 | c.527A>C (p.Asn176Thr) c.614A>C (p.Asn205Thr) c.632A>C (p.Asn211Thr) | |
| 3 | g.148741562A>G | CA2657342 | AGTR1 | c.527A>G (p.Asn176Ser) c.614A>G (p.Asn205Ser) c.632A>G (p.Asn211Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.148741562A>T | CA354887901 | AGTR1 | c.527A>T (p.Asn176Ile) c.614A>T (p.Asn205Ile) c.632A>T (p.Asn211Ile) | |
| 3 | g.148741563T>A | CA354887902 | AGTR1 | c.528T>A (p.Asn176Lys) c.615T>A (p.Asn205Lys) c.633T>A (p.Asn211Lys) | |
| 3 | g.148741563T>C | CA436389469 | AGTR1 | c.528T>C (p.Asn176=) c.615T>C (p.Asn205=) c.633T>C (p.Asn211=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.148741563T>G | CA354887904 | AGTR1 | c.528T>G (p.Asn176Lys) c.615T>G (p.Asn205Lys) c.633T>G (p.Asn211Lys) | |
| 3 | g.148741563T= | CA1409909829 | AGTR1 | c.528T= (p.Asn176=) c.615T= (p.Asn205=) c.633T= (p.Asn211=) | |
| 3 | g.148741564A= | CA1409909832 | AGTR1 | c.529A= (p.Ile177=) c.616A= (p.Ile206=) c.634A= (p.Ile212=) | |
| 3 | g.148741564A>C | CA85497775 | AGTR1 | c.529A>C (p.Ile177Leu) c.616A>C (p.Ile206Leu) c.634A>C (p.Ile212Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741564A>G | CA354887906 | AGTR1 | c.529A>G (p.Ile177Val) c.616A>G (p.Ile206Val) c.634A>G (p.Ile212Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741564A>T | CA354887908 | AGTR1 | c.529A>T (p.Ile177Phe) c.616A>T (p.Ile206Phe) c.634A>T (p.Ile212Phe) | |
| 3 | g.148741565T>A | CA354887909 | AGTR1 | c.530T>A (p.Ile177Asn) c.617T>A (p.Ile206Asn) c.635T>A (p.Ile212Asn) | |
| 3 | g.148741565T>C | CA354887913 | AGTR1 | c.530T>C (p.Ile177Thr) c.617T>C (p.Ile206Thr) c.635T>C (p.Ile212Thr) | gnomAD v4 |
| 3 | g.148741565T>G | CA354887911 | AGTR1 | c.530T>G (p.Ile177Ser) c.617T>G (p.Ile206Ser) c.635T>G (p.Ile212Ser) | |
| 3 | g.148741566T>A | CA436389471 | AGTR1 | c.531T>A (p.Ile177=) c.618T>A (p.Ile206=) c.636T>A (p.Ile212=) | |
| 3 | g.148741566T>C | CA436389472 | AGTR1 | c.531T>C (p.Ile177=) c.618T>C (p.Ile206=) c.636T>C (p.Ile212=) | |
| 3 | g.148741566T>G | CA354887915 | AGTR1 | c.531T>G (p.Ile177Met) c.618T>G (p.Ile206Met) c.636T>G (p.Ile212Met) | |
| 3 | g.148741567A>C | CA354887916 | AGTR1 | c.532A>C (p.Thr178Pro) c.619A>C (p.Thr207Pro) c.637A>C (p.Thr213Pro) | |
| 3 | g.148741567A>G | CA354887917 | AGTR1 | c.532A>G (p.Thr178Ala) c.619A>G (p.Thr207Ala) c.637A>G (p.Thr213Ala) | |
| 3 | g.148741567A>T | CA354887918 | AGTR1 | c.532A>T (p.Thr178Ser) c.619A>T (p.Thr207Ser) c.637A>T (p.Thr213Ser) | |
| 3 | g.148741568_148741569del | CA2668116562 | AGTR1 | c.533_534del (p.Thr178SerfsTer7) c.620_621del (p.Thr207SerfsTer7) c.638_639del (p.Thr213SerfsTer7) | gnomAD v4 |
| 3 | g.148741568C>A | CA354887919 | AGTR1 | c.533C>A (p.Thr178Lys) c.620C>A (p.Thr207Lys) c.638C>A (p.Thr213Lys) | |
| 3 | g.148741568C>G | CA354887920 | AGTR1 | c.533C>G (p.Thr178Arg) c.620C>G (p.Thr207Arg) c.638C>G (p.Thr213Arg) | |
| 3 | g.148741568C>T | CA354887921 | AGTR1 | c.533C>T (p.Thr178Ile) c.620C>T (p.Thr207Ile) c.638C>T (p.Thr213Ile) | |
| 3 | g.148741569A>C | CA436389474 | AGTR1 | c.534A>C (p.Thr178=) c.621A>C (p.Thr207=) c.639A>C (p.Thr213=) | |
| 3 | g.148741569A>G | CA436389475 | AGTR1 | c.534A>G (p.Thr178=) c.621A>G (p.Thr207=) c.639A>G (p.Thr213=) | gnomAD v4 |
| 3 | g.148741569A>T | CA436389477 | AGTR1 | c.534A>T (p.Thr178=) c.621A>T (p.Thr207=) c.639A>T (p.Thr213=) | |
| 3 | g.148741570G>A | CA354887922 | AGTR1 | c.535G>A (p.Val179Ile) c.622G>A (p.Val208Ile) c.640G>A (p.Val214Ile) | |
| 3 | g.148741570G>C | CA2657343 | AGTR1 | c.535G>C (p.Val179Leu) c.622G>C (p.Val208Leu) c.640G>C (p.Val214Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741570G= | CA1409909835 | AGTR1 | c.535G= (p.Val179=) c.622G= (p.Val208=) c.640G= (p.Val214=) | |
| 3 | g.148741570G>T | CA354887923 | AGTR1 | c.535G>T (p.Val179Phe) c.622G>T (p.Val208Phe) c.640G>T (p.Val214Phe) | COSMIC |
| 3 | g.148741571T>A | CA354887925 | AGTR1 | c.536T>A (p.Val179Asp) c.623T>A (p.Val208Asp) c.641T>A (p.Val214Asp) | |
| 3 | g.148741571T>C | CA354887926 | AGTR1 | c.536T>C (p.Val179Ala) c.623T>C (p.Val208Ala) c.641T>C (p.Val214Ala) | |
| 3 | g.148741571T>G | CA354887924 | AGTR1 | c.536T>G (p.Val179Gly) c.623T>G (p.Val208Gly) c.641T>G (p.Val214Gly) | |
| 3 | g.148741572T>A | CA436389480 | AGTR1 | c.537T>A (p.Val179=) c.624T>A (p.Val208=) c.642T>A (p.Val214=) | |
| 3 | g.148741572T>C | CA436389481 | AGTR1 | c.537T>C (p.Val179=) c.624T>C (p.Val208=) c.642T>C (p.Val214=) | |
| 3 | g.148741572T>G | CA436389482 | AGTR1 | c.537T>G (p.Val179=) c.624T>G (p.Val208=) c.642T>G (p.Val214=) | |
| 3 | g.148741573T>A | CA354887927 | AGTR1 | c.538T>A (p.Cys180Ser) c.625T>A (p.Cys209Ser) c.643T>A (p.Cys215Ser) | |
| 3 | g.148741573T>C | CA354887929 | AGTR1 | c.538T>C (p.Cys180Arg) c.625T>C (p.Cys209Arg) c.643T>C (p.Cys215Arg) | |
| 3 | g.148741573T>G | CA354887931 | AGTR1 | c.538T>G (p.Cys180Gly) c.625T>G (p.Cys209Gly) c.643T>G (p.Cys215Gly) | |
| 3 | g.148741574G>A | CA354887939 | AGTR1 | c.539G>A (p.Cys180Tyr) c.626G>A (p.Cys209Tyr) c.644G>A (p.Cys215Tyr) | |
| 3 | g.148741574G>C | CA354887940 | AGTR1 | c.539G>C (p.Cys180Ser) c.626G>C (p.Cys209Ser) c.644G>C (p.Cys215Ser) | |
| 3 | g.148741574G>T | CA354887942 | AGTR1 | c.539G>T (p.Cys180Phe) c.626G>T (p.Cys209Phe) c.644G>T (p.Cys215Phe) | |
| 3 | g.148741575T>A | CA354887945 | AGTR1 | c.540T>A (p.Cys180Ter) c.627T>A (p.Cys209Ter) c.645T>A (p.Cys215Ter) | |
| 3 | g.148741575T>C | CA436389486 | AGTR1 | c.540T>C (p.Cys180=) c.627T>C (p.Cys209=) c.645T>C (p.Cys215=) | gnomAD v4 |
| 3 | g.148741575T>G | CA354887943 | AGTR1 | c.540T>G (p.Cys180Trp) c.627T>G (p.Cys209Trp) c.645T>G (p.Cys215Trp) | |
| 3 | g.148741576G>A | CA354887946 | AGTR1 | c.541G>A (p.Ala181Thr) c.628G>A (p.Ala210Thr) c.646G>A (p.Ala216Thr) | |
| 3 | g.148741576G>C | CA354887947 | AGTR1 | c.541G>C (p.Ala181Pro) c.628G>C (p.Ala210Pro) c.646G>C (p.Ala216Pro) | |
| 3 | g.148741576G>T | CA354887948 | AGTR1 | c.541G>T (p.Ala181Ser) c.628G>T (p.Ala210Ser) c.646G>T (p.Ala216Ser) | |
| 3 | g.148741577C>A | CA354887951 | AGTR1 | c.542C>A (p.Ala181Asp) c.629C>A (p.Ala210Asp) c.647C>A (p.Ala216Asp) | gnomAD v4 |
| 3 | g.148741577C>G | CA354887956 | AGTR1 | c.542C>G (p.Ala181Gly) c.629C>G (p.Ala210Gly) c.647C>G (p.Ala216Gly) | |
| 3 | g.148741577C>T | CA354887958 | AGTR1 | c.542C>T (p.Ala181Val) c.629C>T (p.Ala210Val) c.647C>T (p.Ala216Val) | COSMIC |
| 3 | g.148741578T>A | CA436389491 | AGTR1 | c.543T>A (p.Ala181=) c.630T>A (p.Ala210=) c.648T>A (p.Ala216=) | |
| 3 | g.148741578T>C | CA436389492 | AGTR1 | c.543T>C (p.Ala181=) c.630T>C (p.Ala210=) c.648T>C (p.Ala216=) | |
| 3 | g.148741578T>G | CA436389493 | AGTR1 | c.543T>G (p.Ala181=) c.630T>G (p.Ala210=) c.648T>G (p.Ala216=) | |
| 3 | g.148741579T>A | CA354887960 | AGTR1 | c.544T>A (p.Phe182Ile) c.631T>A (p.Phe211Ile) c.649T>A (p.Phe217Ile) | |
| 3 | g.148741579T>C | CA354887965 | AGTR1 | c.544T>C (p.Phe182Leu) c.631T>C (p.Phe211Leu) c.649T>C (p.Phe217Leu) | |
| 3 | g.148741579T>G | CA354887962 | AGTR1 | c.544T>G (p.Phe182Val) c.631T>G (p.Phe211Val) c.649T>G (p.Phe217Val) | |
| 3 | g.148741580T>A | CA354887966 | AGTR1 | c.545T>A (p.Phe182Tyr) c.632T>A (p.Phe211Tyr) c.650T>A (p.Phe217Tyr) | |
| 3 | g.148741580T>C | CA354887967 | AGTR1 | c.545T>C (p.Phe182Ser) c.632T>C (p.Phe211Ser) c.650T>C (p.Phe217Ser) | |
| 3 | g.148741580T>G | CA354887968 | AGTR1 | c.545T>G (p.Phe182Cys) c.632T>G (p.Phe211Cys) c.650T>G (p.Phe217Cys) | |
| 3 | g.148741581C>A | CA354887970 | AGTR1 | c.546C>A (p.Phe182Leu) c.633C>A (p.Phe211Leu) c.651C>A (p.Phe217Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741581C= | CA1409909841 | AGTR1 | c.546C= (p.Phe182=) c.633C= (p.Phe211=) c.651C= (p.Phe217=) | |
| 3 | g.148741581C>G | CA354887973 | AGTR1 | c.546C>G (p.Phe182Leu) c.633C>G (p.Phe211Leu) c.651C>G (p.Phe217Leu) | |
| 3 | g.148741581C>T | CA85497785 | AGTR1 | c.546C>T (p.Phe182=) c.633C>T (p.Phe211=) c.651C>T (p.Phe217=) | dbSNP COSMIC |
| 3 | g.148741582C>A | CA354887977 | AGTR1 | c.547C>A (p.His183Asn) c.634C>A (p.His212Asn) c.652C>A (p.His218Asn) | |
| 3 | g.148741582C>G | CA354887979 | AGTR1 | c.547C>G (p.His183Asp) c.634C>G (p.His212Asp) c.652C>G (p.His218Asp) | |
| 3 | g.148741582C>T | CA354887981 | AGTR1 | c.547C>T (p.His183Tyr) c.634C>T (p.His212Tyr) c.652C>T (p.His218Tyr) | COSMIC |
| 3 | g.148741583A= | CA1409909845 | AGTR1 | c.548A= (p.His183=) c.635A= (p.His212=) c.653A= (p.His218=) | |
| 3 | g.148741583A>C | CA354887982 | AGTR1 | c.548A>C (p.His183Pro) c.635A>C (p.His212Pro) c.653A>C (p.His218Pro) | |
| 3 | g.148741583A>G | CA354887983 | AGTR1 | c.548A>G (p.His183Arg) c.635A>G (p.His212Arg) c.653A>G (p.His218Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741583A>T | CA354887984 | AGTR1 | c.548A>T (p.His183Leu) c.635A>T (p.His212Leu) c.653A>T (p.His218Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.148741584T>A | CA354887986 | AGTR1 | c.549T>A (p.His183Gln) c.636T>A (p.His212Gln) c.654T>A (p.His218Gln) | |
| 3 | g.148741584T>C | CA2657344 | AGTR1 | c.549T>C (p.His183=) c.636T>C (p.His212=) c.654T>C (p.His218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741584T>G | CA354887985 | AGTR1 | c.549T>G (p.His183Gln) c.636T>G (p.His212Gln) c.654T>G (p.His218Gln) | |
| 3 | g.148741584T= | CA1409909847 | AGTR1 | c.549T= (p.His183=) c.636T= (p.His212=) c.654T= (p.His218=) | |
| 3 | g.148741585T>A | CA354887987 | AGTR1 | c.550T>A (p.Tyr184Asn) c.637T>A (p.Tyr213Asn) c.655T>A (p.Tyr219Asn) | |
| 3 | g.148741585T>C | CA2657345 | AGTR1 | c.550T>C (p.Tyr184His) c.637T>C (p.Tyr213His) c.655T>C (p.Tyr219His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741585T>G | CA354887988 | AGTR1 | c.550T>G (p.Tyr184Asp) c.637T>G (p.Tyr213Asp) c.655T>G (p.Tyr219Asp) | |
| 3 | g.148741585T= | CA1409909850 | AGTR1 | c.550T= (p.Tyr184=) c.637T= (p.Tyr213=) c.655T= (p.Tyr219=) | |
| 3 | g.148741586A>C | CA354887990 | AGTR1 | c.551A>C (p.Tyr184Ser) c.638A>C (p.Tyr213Ser) c.656A>C (p.Tyr219Ser) | |
| 3 | g.148741586A>G | CA354887992 | AGTR1 | c.551A>G (p.Tyr184Cys) c.638A>G (p.Tyr213Cys) c.656A>G (p.Tyr219Cys) | gnomAD v4 |
| 3 | g.148741586A>T | CA354887993 | AGTR1 | c.551A>T (p.Tyr184Phe) c.638A>T (p.Tyr213Phe) c.656A>T (p.Tyr219Phe) | |
| 3 | g.148741587T>A | CA354887994 | AGTR1 | c.552T>A (p.Tyr184Ter) c.639T>A (p.Tyr213Ter) c.657T>A (p.Tyr219Ter) | |
| 3 | g.148741587T>C | CA436389500 | AGTR1 | c.552T>C (p.Tyr184=) c.639T>C (p.Tyr213=) c.657T>C (p.Tyr219=) | COSMIC |
| 3 | g.148741587T>G | CA354887995 | AGTR1 | c.552T>G (p.Tyr184Ter) c.639T>G (p.Tyr213Ter) c.657T>G (p.Tyr219Ter) | |
| 3 | g.148741588G>A | CA2657346 | AGTR1 | c.553G>A (p.Glu185Lys) c.640G>A (p.Glu214Lys) c.658G>A (p.Glu220Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741588G>C | CA354887997 | AGTR1 | c.553G>C (p.Glu185Gln) c.640G>C (p.Glu214Gln) c.658G>C (p.Glu220Gln) | |
| 3 | g.148741588G= | CA1409909851 | AGTR1 | c.553G= (p.Glu185=) c.640G= (p.Glu214=) c.658G= (p.Glu220=) | |
| 3 | g.148741588G>T | CA354887999 | AGTR1 | c.553G>T (p.Glu185Ter) c.640G>T (p.Glu214Ter) c.658G>T (p.Glu220Ter) | |
| 3 | g.148741589A>C | CA354888003 | AGTR1 | c.554A>C (p.Glu185Ala) c.641A>C (p.Glu214Ala) c.659A>C (p.Glu220Ala) | |
| 3 | g.148741589A>G | CA354888004 | AGTR1 | c.554A>G (p.Glu185Gly) c.641A>G (p.Glu214Gly) c.659A>G (p.Glu220Gly) | |
| 3 | g.148741589A>T | CA354888007 | AGTR1 | c.554A>T (p.Glu185Val) c.641A>T (p.Glu214Val) c.659A>T (p.Glu220Val) | |
| 3 | g.148741590G>A | CA436389501 | AGTR1 | c.555G>A (p.Glu185=) c.642G>A (p.Glu214=) c.660G>A (p.Glu220=) | dbSNP gnomAD v4 |
| 3 | g.148741590G>C | CA354888010 | AGTR1 | c.555G>C (p.Glu185Asp) c.642G>C (p.Glu214Asp) c.660G>C (p.Glu220Asp) | gnomAD v4 |
| 3 | g.148741590G= | CA1409909854 | AGTR1 | c.555G= (p.Glu185=) c.642G= (p.Glu214=) c.660G= (p.Glu220=) | |
| 3 | g.148741590G>T | CA354888012 | AGTR1 | c.555G>T (p.Glu185Asp) c.642G>T (p.Glu214Asp) c.660G>T (p.Glu220Asp) | |
| 3 | g.148741591T>A | CA354888019 | AGTR1 | c.556T>A (p.Ser186Thr) c.643T>A (p.Ser215Thr) c.661T>A (p.Ser221Thr) | |
| 3 | g.148741591T>C | CA2657347 | AGTR1 | c.556T>C (p.Ser186Pro) c.643T>C (p.Ser215Pro) c.661T>C (p.Ser221Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741591T>G | CA354888015 | AGTR1 | c.556T>G (p.Ser186Ala) c.643T>G (p.Ser215Ala) c.661T>G (p.Ser221Ala) | |
| 3 | g.148741591T= | CA1409909858 | AGTR1 | c.556T= (p.Ser186=) c.643T= (p.Ser215=) c.661T= (p.Ser221=) | |
| 3 | g.148741592C>A | CA354888021 | AGTR1 | c.557C>A (p.Ser186Tyr) c.644C>A (p.Ser215Tyr) c.662C>A (p.Ser221Tyr) | |
| 3 | g.148741592C= | CA1409909860 | AGTR1 | c.557C= (p.Ser186=) c.644C= (p.Ser215=) c.662C= (p.Ser221=) | |
| 3 | g.148741592C>G | CA354888024 | AGTR1 | c.557C>G (p.Ser186Cys) c.644C>G (p.Ser215Cys) c.662C>G (p.Ser221Cys) | |
| 3 | g.148741592C>T | CA354888033 | AGTR1 | c.557C>T (p.Ser186Phe) c.644C>T (p.Ser215Phe) c.662C>T (p.Ser221Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741593C>A | CA436389505 | AGTR1 | c.558C>A (p.Ser186=) c.645C>A (p.Ser215=) c.663C>A (p.Ser221=) | |
| 3 | g.148741593C>G | CA436389507 | AGTR1 | c.558C>G (p.Ser186=) c.645C>G (p.Ser215=) c.663C>G (p.Ser221=) | |
| 3 | g.148741593C>T | CA436389506 | AGTR1 | c.558C>T (p.Ser186=) c.645C>T (p.Ser215=) c.663C>T (p.Ser221=) | |
| 3 | g.148741594C>A | CA354888038 | AGTR1 | c.559C>A (p.Gln187Lys) c.646C>A (p.Gln216Lys) c.664C>A (p.Gln222Lys) | |
| 3 | g.148741594C>G | CA354888039 | AGTR1 | c.559C>G (p.Gln187Glu) c.646C>G (p.Gln216Glu) c.664C>G (p.Gln222Glu) | |
| 3 | g.148741594C>T | CA354888041 | AGTR1 | c.559C>T (p.Gln187Ter) c.646C>T (p.Gln216Ter) c.664C>T (p.Gln222Ter) | |
| 3 | g.148741595A>C | CA354888044 | AGTR1 | c.560A>C (p.Gln187Pro) c.647A>C (p.Gln216Pro) c.665A>C (p.Gln222Pro) | |
| 3 | g.148741595A>G | CA354888049 | AGTR1 | c.560A>G (p.Gln187Arg) c.647A>G (p.Gln216Arg) c.665A>G (p.Gln222Arg) | |
| 3 | g.148741595A>T | CA354888052 | AGTR1 | c.560A>T (p.Gln187Leu) c.647A>T (p.Gln216Leu) c.665A>T (p.Gln222Leu) | |
| 3 | g.148741596A>C | CA354888055 | AGTR1 | c.561A>C (p.Gln187His) c.648A>C (p.Gln216His) c.666A>C (p.Gln222His) | |
| 3 | g.148741596A>G | CA436389511 | AGTR1 | c.561A>G (p.Gln187=) c.648A>G (p.Gln216=) c.666A>G (p.Gln222=) | |
| 3 | g.148741596A>T | CA354888056 | AGTR1 | c.561A>T (p.Gln187His) c.648A>T (p.Gln216His) c.666A>T (p.Gln222His) | |
| 3 | g.148741597A= | CA1409909867 | AGTR1 | c.562A= (p.Asn188=) c.649A= (p.Asn217=) c.667A= (p.Asn223=) | |
| 3 | g.148741597A>C | CA354888059 | AGTR1 | c.562A>C (p.Asn188His) c.649A>C (p.Asn217His) c.667A>C (p.Asn223His) | |
| 3 | g.148741597A>G | CA85497826 | AGTR1 | c.562A>G (p.Asn188Asp) c.649A>G (p.Asn217Asp) c.667A>G (p.Asn223Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741597A>T | CA2657348 | AGTR1 | c.562A>T (p.Asn188Tyr) c.649A>T (p.Asn217Tyr) c.667A>T (p.Asn223Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741597_148741598insCACACCCAACAC | CA2758831858 | AGTR1 | c.562_563insCACACCCAACAC (p.Asn188delinsThrHisProThrHis) c.649_650insCACACCCAACAC (p.Asn217delinsThrHisProThrHis) c.667_668insCACACCCAACAC (p.Asn223delinsThrHisProThrHis) | |
| 3 | g.148741598A>C | CA354888064 | AGTR1 | c.563A>C (p.Asn188Thr) c.650A>C (p.Asn217Thr) c.668A>C (p.Asn223Thr) | |
| 3 | g.148741598A>G | CA354888062 | AGTR1 | c.563A>G (p.Asn188Ser) c.650A>G (p.Asn217Ser) c.668A>G (p.Asn223Ser) | |
| 3 | g.148741598A>T | CA354888061 | AGTR1 | c.563A>T (p.Asn188Ile) c.650A>T (p.Asn217Ile) c.668A>T (p.Asn223Ile) | |
| 3 | g.148741598_148741599insAAACCCAAACACACCCAACACA | CA2758831857 | AGTR1 | c.563_564insAAACCCAAACACACCCAACACA (p.Asn188LysfsTer?) c.650_651insAAACCCAAACACACCCAACACA (p.Asn217LysfsTer?) c.668_669insAAACCCAAACACACCCAACACA (p.Asn223LysfsTer?) | |
| 3 | g.148741599T>A | CA354888068 | AGTR1 | c.564T>A (p.Asn188Lys) c.651T>A (p.Asn217Lys) c.669T>A (p.Asn223Lys) | |
| 3 | g.148741599T>C | CA436389513 | AGTR1 | c.564T>C (p.Asn188=) c.651T>C (p.Asn217=) c.669T>C (p.Asn223=) | |
| 3 | g.148741599T>G | CA354888071 | AGTR1 | c.564T>G (p.Asn188Lys) c.651T>G (p.Asn217Lys) c.669T>G (p.Asn223Lys) | dbSNP |
| 3 | g.148741600T>A | CA354888073 | AGTR1 | c.565T>A (p.Ser189Thr) c.652T>A (p.Ser218Thr) c.670T>A (p.Ser224Thr) | |
| 3 | g.148741600T>C | CA85497842 | AGTR1 | c.565T>C (p.Ser189Pro) c.652T>C (p.Ser218Pro) c.670T>C (p.Ser224Pro) | dbSNP |
| 3 | g.148741600T>G | CA354888076 | AGTR1 | c.565T>G (p.Ser189Ala) c.652T>G (p.Ser218Ala) c.670T>G (p.Ser224Ala) | |
| 3 | g.148741600T= | CA1409909871 | AGTR1 | c.565T= (p.Ser189=) c.652T= (p.Ser218=) c.670T= (p.Ser224=) | |
| 3 | g.148741601C>A | CA354888085 | AGTR1 | c.566C>A (p.Ser189Ter) c.653C>A (p.Ser218Ter) c.671C>A (p.Ser224Ter) | |
| 3 | g.148741601C= | CA1409909873 | AGTR1 | c.566C= (p.Ser189=) c.653C= (p.Ser218=) c.671C= (p.Ser224=) | |
| 3 | g.148741601C>G | CA354888083 | AGTR1 | c.566C>G (p.Ser189Ter) c.653C>G (p.Ser218Ter) c.671C>G (p.Ser224Ter) | |
| 3 | g.148741601C>T | CA2657349 | AGTR1 | c.566C>T (p.Ser189Leu) c.653C>T (p.Ser218Leu) c.671C>T (p.Ser224Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741602A= | CA1409909876 | AGTR1 | c.567A= (p.Ser189=) c.654A= (p.Ser218=) c.672A= (p.Ser224=) | |
| 3 | g.148741602A>C | CA436389519 | AGTR1 | c.567A>C (p.Ser189=) c.654A>C (p.Ser218=) c.672A>C (p.Ser224=) | |
| 3 | g.148741602A>G | CA436389517 | AGTR1 | c.567A>G (p.Ser189=) c.654A>G (p.Ser218=) c.672A>G (p.Ser224=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.148741602A>T | CA436389518 | AGTR1 | c.567A>T (p.Ser189=) c.654A>T (p.Ser218=) c.672A>T (p.Ser224=) | |
| 3 | g.148741603A= | CA1409909879 | AGTR1 | c.568A= (p.Thr190=) c.655A= (p.Thr219=) c.673A= (p.Thr225=) | |
| 3 | g.148741603A>C | CA354888086 | AGTR1 | c.568A>C (p.Thr190Pro) c.655A>C (p.Thr219Pro) c.673A>C (p.Thr225Pro) | dbSNP |
| 3 | g.148741603A>G | CA354888087 | AGTR1 | c.568A>G (p.Thr190Ala) c.655A>G (p.Thr219Ala) c.673A>G (p.Thr225Ala) | |
| 3 | g.148741603A>T | CA354888088 | AGTR1 | c.568A>T (p.Thr190Ser) c.655A>T (p.Thr219Ser) c.673A>T (p.Thr225Ser) | |
| 3 | g.148741604C>A | CA354888090 | AGTR1 | c.569C>A (p.Thr190Asn) c.656C>A (p.Thr219Asn) c.674C>A (p.Thr225Asn) | COSMIC |
| 3 | g.148741604C= | CA1409909881 | AGTR1 | c.569C= (p.Thr190=) c.656C= (p.Thr219=) c.674C= (p.Thr225=) | |
| 3 | g.148741604C>G | CA85497856 | AGTR1 | c.569C>G (p.Thr190Ser) c.656C>G (p.Thr219Ser) c.674C>G (p.Thr225Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741604C>T | CA354888095 | AGTR1 | c.569C>T (p.Thr190Ile) c.656C>T (p.Thr219Ile) c.674C>T (p.Thr225Ile) | |
| 3 | g.148741605C>A | CA436389523 | AGTR1 | c.570C>A (p.Thr190=) c.657C>A (p.Thr219=) c.675C>A (p.Thr225=) | |
| 3 | g.148741605C= | CA1409909884 | AGTR1 | c.570C= (p.Thr190=) c.657C= (p.Thr219=) c.675C= (p.Thr225=) | |
| 3 | g.148741605C>G | CA436389524 | AGTR1 | c.570C>G (p.Thr190=) c.657C>G (p.Thr219=) c.675C>G (p.Thr225=) | gnomAD v4 |
| 3 | g.148741605C>T | CA85497866 | AGTR1 | c.570C>T (p.Thr190=) c.657C>T (p.Thr219=) c.675C>T (p.Thr225=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.148741606C>A | CA354888096 | AGTR1 | c.571C>A (p.Leu191Ile) c.658C>A (p.Leu220Ile) c.676C>A (p.Leu226Ile) | |
| 3 | g.148741606C= | CA1409909891 | AGTR1 | c.571C= (p.Leu191=) c.658C= (p.Leu220=) c.676C= (p.Leu226=) | |
| 3 | g.148741606C>G | CA354888099 | AGTR1 | c.571C>G (p.Leu191Val) c.658C>G (p.Leu220Val) c.676C>G (p.Leu226Val) | |
| 3 | g.148741606C>T | CA2657350 | AGTR1 | c.571C>T (p.Leu191Phe) c.658C>T (p.Leu220Phe) c.676C>T (p.Leu226Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741607T>A | CA354888101 | AGTR1 | c.572T>A (p.Leu191His) c.659T>A (p.Leu220His) c.677T>A (p.Leu226His) | |
| 3 | g.148741607T>C | CA354888105 | AGTR1 | c.572T>C (p.Leu191Pro) c.659T>C (p.Leu220Pro) c.677T>C (p.Leu226Pro) | |
| 3 | g.148741607T>G | CA354888107 | AGTR1 | c.572T>G (p.Leu191Arg) c.659T>G (p.Leu220Arg) c.677T>G (p.Leu226Arg) | |
| 3 | g.148741608C>A | CA436389525 | AGTR1 | c.573C>A (p.Leu191=) c.660C>A (p.Leu220=) c.678C>A (p.Leu226=) | |
| 3 | g.148741608C= | CA1409909896 | AGTR1 | c.573C= (p.Leu191=) c.660C= (p.Leu220=) c.678C= (p.Leu226=) | |
| 3 | g.148741608C>G | CA436389526 | AGTR1 | c.573C>G (p.Leu191=) c.660C>G (p.Leu220=) c.678C>G (p.Leu226=) | dbSNP |
| 3 | g.148741608C>T | CA2657351 | AGTR1 | c.573C>T (p.Leu191=) c.660C>T (p.Leu220=) c.678C>T (p.Leu226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741609C>A | CA354888110 | AGTR1 | c.574C>A (p.Pro192Thr) c.661C>A (p.Pro221Thr) c.679C>A (p.Pro227Thr) | |
| 3 | g.148741609C= | CA1409909903 | AGTR1 | c.574C= (p.Pro192=) c.661C= (p.Pro221=) c.679C= (p.Pro227=) | |
| 3 | g.148741609C>G | CA354888111 | AGTR1 | c.574C>G (p.Pro192Ala) c.661C>G (p.Pro221Ala) c.679C>G (p.Pro227Ala) | |
| 3 | g.148741609C>T | CA354888115 | AGTR1 | c.574C>T (p.Pro192Ser) c.661C>T (p.Pro221Ser) c.679C>T (p.Pro227Ser) | dbSNP gnomAD v2 COSMIC |
| 3 | g.148741610C>A | CA354888117 | AGTR1 | c.575C>A (p.Pro192Gln) c.662C>A (p.Pro221Gln) c.680C>A (p.Pro227Gln) | COSMIC |
| 3 | g.148741610C= | CA1409909908 | AGTR1 | c.575C= (p.Pro192=) c.662C= (p.Pro221=) c.680C= (p.Pro227=) | |
| 3 | g.148741610C>G | CA354888121 | AGTR1 | c.575C>G (p.Pro192Arg) c.662C>G (p.Pro221Arg) c.680C>G (p.Pro227Arg) | |
| 3 | g.148741610C>T | CA2657352 | AGTR1 | c.575C>T (p.Pro192Leu) c.662C>T (p.Pro221Leu) c.680C>T (p.Pro227Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741611G>A | CA2657353 | AGTR1 | c.576G>A (p.Pro192=) c.663G>A (p.Pro221=) c.681G>A (p.Pro227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.148741611G>C | CA436389530 | AGTR1 | c.576G>C (p.Pro192=) c.663G>C (p.Pro221=) c.681G>C (p.Pro227=) | |
| 3 | g.148741611G= | CA1409909911 | AGTR1 | c.576G= (p.Pro192=) c.663G= (p.Pro221=) c.681G= (p.Pro227=) | |
| 3 | g.148741611G>T | CA436389531 | AGTR1 | c.576G>T (p.Pro192=) c.663G>T (p.Pro221=) c.681G>T (p.Pro227=) | gnomAD v4 |
| 3 | g.148741612A= | CA1409909916 | AGTR1 | c.577A= (p.Ile193=) c.664A= (p.Ile222=) c.682A= (p.Ile228=) | |
| 3 | g.148741612A>C | CA354888128 | AGTR1 | c.577A>C (p.Ile193Leu) c.664A>C (p.Ile222Leu) c.682A>C (p.Ile228Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.148741612A>G | CA354888132 | AGTR1 | c.577A>G (p.Ile193Val) c.664A>G (p.Ile222Val) c.682A>G (p.Ile228Val) | gnomAD v4 |
| 3 | g.148741612A>T | CA354888131 | AGTR1 | c.577A>T (p.Ile193Leu) c.664A>T (p.Ile222Leu) c.682A>T (p.Ile228Leu) | |
| 3 | g.148741613T>A | CA354888135 | AGTR1 | c.578T>A (p.Ile193Lys) c.665T>A (p.Ile222Lys) c.683T>A (p.Ile228Lys) | |
| 3 | g.148741613T>C | CA354888137 | AGTR1 | c.578T>C (p.Ile193Thr) c.665T>C (p.Ile222Thr) c.683T>C (p.Ile228Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741613T>G | CA354888140 | AGTR1 | c.578T>G (p.Ile193Arg) c.665T>G (p.Ile222Arg) c.683T>G (p.Ile228Arg) | |
| 3 | g.148741613T= | CA1409909919 | AGTR1 | c.578T= (p.Ile193=) c.665T= (p.Ile222=) c.683T= (p.Ile228=) | |
| 3 | g.148741613_148741614insC | CA2668116563 | AGTR1 | c.578_579insC (p.Gly194ArgfsTer?) c.665_666insC (p.Gly223ArgfsTer?) c.683_684insC (p.Gly229ArgfsTer?) | gnomAD v4 |
| 3 | g.148741614A>C | CA436389532 | AGTR1 | c.579A>C (p.Ile193=) c.666A>C (p.Ile222=) c.684A>C (p.Ile228=) | |
| 3 | g.148741614A>G | CA354888143 | AGTR1 | c.579A>G (p.Ile193Met) c.666A>G (p.Ile222Met) c.684A>G (p.Ile228Met) | |
| 3 | g.148741614A>T | CA436389535 | AGTR1 | c.579A>T (p.Ile193=) c.666A>T (p.Ile222=) c.684A>T (p.Ile228=) | |
| 3 | g.148741615G>A | CA354888145 | AGTR1 | c.580G>A (p.Gly194Arg) c.667G>A (p.Gly223Arg) c.685G>A (p.Gly229Arg) | dbSNP gnomAD v4 COSMIC |
| 3 | g.148741615G>C | CA354888147 | AGTR1 | c.580G>C (p.Gly194Arg) c.667G>C (p.Gly223Arg) c.685G>C (p.Gly229Arg) | |
| 3 | g.148741615G>T | CA354888149 | AGTR1 | c.580G>T (p.Gly194Trp) c.667G>T (p.Gly223Trp) c.685G>T (p.Gly229Trp) | |
| 3 | g.148741616G>A | CA354888151 | AGTR1 | c.581G>A (p.Gly194Glu) c.668G>A (p.Gly223Glu) c.686G>A (p.Gly229Glu) | |
| 3 | g.148741616G>C | CA85497882 | AGTR1 | c.581G>C (p.Gly194Ala) c.668G>C (p.Gly223Ala) c.686G>C (p.Gly229Ala) | dbSNP |
| 3 | g.148741616G= | CA1409909922 | AGTR1 | c.581G= (p.Gly194=) c.668G= (p.Gly223=) c.686G= (p.Gly229=) | |
| 3 | g.148741616G>T | CA354888153 | AGTR1 | c.581G>T (p.Gly194Val) c.668G>T (p.Gly223Val) c.686G>T (p.Gly229Val) | |
| 3 | g.148741617G>A | CA436389537 | AGTR1 | c.582G>A (p.Gly194=) c.669G>A (p.Gly223=) c.687G>A (p.Gly229=) | gnomAD v4 |
| 3 | g.148741617G>C | CA436389538 | AGTR1 | c.582G>C (p.Gly194=) c.669G>C (p.Gly223=) c.687G>C (p.Gly229=) | |
| 3 | g.148741617G= | CA1409909924 | AGTR1 | c.582G= (p.Gly194=) c.669G= (p.Gly223=) c.687G= (p.Gly229=) | |
| 3 | g.148741617G>T | CA2657354 | AGTR1 | c.582G>T (p.Gly194=) c.669G>T (p.Gly223=) c.687G>T (p.Gly229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741618C>A | CA354888157 | AGTR1 | c.583C>A (p.Leu195Met) c.670C>A (p.Leu224Met) c.688C>A (p.Leu230Met) | |
| 3 | g.148741618C>G | CA354888160 | AGTR1 | c.583C>G (p.Leu195Val) c.670C>G (p.Leu224Val) c.688C>G (p.Leu230Val) | |
| 3 | g.148741618C>T | CA436389539 | AGTR1 | c.583C>T (p.Leu195=) c.670C>T (p.Leu224=) c.688C>T (p.Leu230=) | |
| 3 | g.148741618dup | CA2577930437 | AGTR1 | c.583dup (p.Leu195ProfsTer?) c.670dup (p.Leu224ProfsTer?) c.688dup (p.Leu230ProfsTer?) | |
| 3 | g.148741619T>A | CA354888163 | AGTR1 | c.584T>A (p.Leu195Gln) c.671T>A (p.Leu224Gln) c.689T>A (p.Leu230Gln) | |
| 3 | g.148741619T>C | CA354888162 | AGTR1 | c.584T>C (p.Leu195Pro) c.671T>C (p.Leu224Pro) c.689T>C (p.Leu230Pro) | ClinVar gnomAD v4 |
| 3 | g.148741619T>G | CA354888161 | AGTR1 | c.584T>G (p.Leu195Arg) c.671T>G (p.Leu224Arg) c.689T>G (p.Leu230Arg) | |
| 3 | g.148741620G>A | CA436389541 | AGTR1 | c.585G>A (p.Leu195=) c.672G>A (p.Leu224=) c.690G>A (p.Leu230=) | dbSNP gnomAD v2 |
| 3 | g.148741620G>C | CA436389542 | AGTR1 | c.585G>C (p.Leu195=) c.672G>C (p.Leu224=) c.690G>C (p.Leu230=) | |
| 3 | g.148741620G= | CA1409909927 | AGTR1 | c.585G= (p.Leu195=) c.672G= (p.Leu224=) c.690G= (p.Leu230=) | |
| 3 | g.148741620G>T | CA436389543 | AGTR1 | c.585G>T (p.Leu195=) c.672G>T (p.Leu224=) c.690G>T (p.Leu230=) | |
| 3 | g.148741621G>A | CA354888164 | AGTR1 | c.586G>A (p.Gly196Ser) c.673G>A (p.Gly225Ser) c.691G>A (p.Gly231Ser) | |
| 3 | g.148741621G>C | CA354888165 | AGTR1 | c.586G>C (p.Gly196Arg) c.673G>C (p.Gly225Arg) c.691G>C (p.Gly231Arg) | |
| 3 | g.148741621G>T | CA354888166 | AGTR1 | c.586G>T (p.Gly196Cys) c.673G>T (p.Gly225Cys) c.691G>T (p.Gly231Cys) | COSMIC |
| 3 | g.148741622G>A | CA354888167 | AGTR1 | c.587G>A (p.Gly196Asp) c.674G>A (p.Gly225Asp) c.692G>A (p.Gly231Asp) | |
| 3 | g.148741622G>C | CA354888168 | AGTR1 | c.587G>C (p.Gly196Ala) c.674G>C (p.Gly225Ala) c.692G>C (p.Gly231Ala) | |
| 3 | g.148741622G= | CA1409909929 | AGTR1 | c.587G= (p.Gly196=) c.674G= (p.Gly225=) c.692G= (p.Gly231=) | |
| 3 | g.148741622G>T | CA354888169 | AGTR1 | c.587G>T (p.Gly196Val) c.674G>T (p.Gly225Val) c.692G>T (p.Gly231Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |