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 |
|---|---|---|---|---|---|
| 1 | g.109610022A= | CA1188172135 | GNAI3,GNAT2 | c.303+18T= (n.303+18T=) c.*17700A= (n.*17700A=) | |
| 1 | g.109610022A>C | CA992468 | GNAI3,GNAT2 | c.303+18T>G (n.303+18T>G) c.*17700A>C (n.*17700A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610022A>G | CA992467 | GNAI3,GNAT2 | c.303+18T>C (n.303+18T>C) c.*17700A>G (n.*17700A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610024A= | CA1188172136 | GNAI3,GNAT2 | c.303+16T= (n.303+16T=) c.*17702A= (n.*17702A=) | |
| 1 | g.109610024A>G | CA1188172137 | GNAI3,GNAT2 | c.303+16T>C (n.303+16T>C) c.*17702A>G (n.*17702A>G) | dbSNP |
| 1 | g.109610026T>C | CA1188172138 | GNAI3,GNAT2 | c.303+14A>G (n.303+14A>G) c.*17704T>C (n.*17704T>C) | dbSNP gnomAD v4 |
| 1 | g.109610026T= | CA1188172139 | GNAI3,GNAT2 | c.303+14A= (n.303+14A=) c.*17704T= (n.*17704T=) | |
| 1 | g.109610027A>G | CA2646962172 | GNAI3,GNAT2 | c.303+13T>C (n.303+13T>C) c.*17705A>G (n.*17705A>G) | gnomAD v4 |
| 1 | g.109610030A>G | CA2646962174 | GNAI3,GNAT2 | c.303+10T>C (n.303+10T>C) c.*17708A>G (n.*17708A>G) | gnomAD v4 |
| 1 | g.109610031A>G | CA2574024513 | GNAI3,GNAT2 | c.303+9T>C (n.303+9T>C) c.*17709A>G (n.*17709A>G) | |
| 1 | g.109610032T>C | CA1005652321 | GNAI3,GNAT2 | c.303+8A>G (n.303+8A>G) c.*17710T>C (n.*17710T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610032T= | CA1188172140 | GNAI3,GNAT2 | c.303+8A= (n.303+8A=) c.*17710T= (n.*17710T=) | |
| 1 | g.109610035C= | CA1188172141 | GNAI3,GNAT2 | c.303+5G= (n.303+5G=) c.*17713C= (n.*17713C=) | |
| 1 | g.109610035C>T | CA992469 | GNAI3,GNAT2 | c.303+5G>A (n.303+5G>A) c.*17713C>T (n.*17713C>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.109610036A= | CA1188172142 | GNAI3,GNAT2 | c.303+4T= (n.303+4T=) c.*17714A= (n.*17714A=) | |
| 1 | g.109610036A>G | CA525626625 | GNAI3,GNAT2 | c.303+4T>C (n.303+4T>C) c.*17714A>G (n.*17714A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109610037T>C | CA885375102 | GNAI3,GNAT2 | c.303+3A>G (n.303+3A>G) c.*17715T>C (n.*17715T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610037T= | CA1188172143 | GNAI3,GNAT2 | c.303+3A= (n.303+3A=) c.*17715T= (n.*17715T=) | |
| 1 | g.109610038A>C | CA341541923 | GNAI3,GNAT2 | c.303+2T>G (n.303+2T>G) c.*17716A>C (n.*17716A>C) | |
| 1 | g.109610038A>G | CA341541924 | GNAI3,GNAT2 | c.303+2T>C (n.303+2T>C) c.*17716A>G (n.*17716A>G) | gnomAD v4 |
| 1 | g.109610038A>T | CA341541925 | GNAI3,GNAT2 | c.303+2T>A (n.303+2T>A) c.*17716A>T (n.*17716A>T) | |
| 1 | g.109610039C>A | CA341541928 | GNAI3,GNAT2 | c.303+1G>T (n.303+1G>T) c.*17717C>A (n.*17717C>A) | |
| 1 | g.109610039C>G | CA341541926 | GNAI3,GNAT2 | c.303+1G>C (n.303+1G>C) c.*17717C>G (n.*17717C>G) | |
| 1 | g.109610039C>T | CA341541927 | GNAI3,GNAT2 | c.303+1G>A (n.303+1G>A) c.*17717C>T (n.*17717C>T) | |
| 1 | g.109610040C>A | CA419369800 | GNAI3,GNAT2 | c.303G>T (p.Ala101=) c.*17718C>A (n.*17718C>A) | |
| 1 | g.109610040C= | CA1142603844 | GNAI3,GNAT2 | c.303G= (p.Ala101=) c.*17718C= (n.*17718C=) | |
| 1 | g.109610040C>G | CA992470 | GNAI3,GNAT2 | c.303G>C (p.Ala101=) c.*17718C>G (n.*17718C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610040C>T | CA992471 | GNAI3,GNAT2 | c.303G>A (p.Ala101=) c.*17718C>T (n.*17718C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610041G>A | CA992472 | GNAI3,GNAT2 | c.302C>T (p.Ala101Val) c.*17719G>A (n.*17719G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610041G>C | CA341541929 | GNAI3,GNAT2 | c.302C>G (p.Ala101Gly) c.*17719G>C (n.*17719G>C) | |
| 1 | g.109610041G= | CA1142131903 | GNAI3,GNAT2 | c.302C= (p.Ala101=) c.*17719G= (n.*17719G=) | |
| 1 | g.109610041G>T | CA992473 | GNAI3,GNAT2 | c.302C>A (p.Ala101Glu) c.*17719G>T (n.*17719G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610042C>A | CA341541930 | GNAI3,GNAT2 | c.301G>T (p.Ala101Ser) c.*17720C>A (n.*17720C>A) | |
| 1 | g.109610042C>G | CA341541931 | GNAI3,GNAT2 | c.301G>C (p.Ala101Pro) c.*17720C>G (n.*17720C>G) | |
| 1 | g.109610042C>T | CA341541932 | GNAI3,GNAT2 | c.301G>A (p.Ala101Thr) c.*17720C>T (n.*17720C>T) | |
| 1 | g.109610043A>C | CA341541933 | GNAI3,GNAT2 | c.300T>G (p.Cys100Trp) c.*17721A>C (n.*17721A>C) | |
| 1 | g.109610043A>G | CA419369801 | GNAI3,GNAT2 | c.300T>C (p.Cys100=) c.*17721A>G (n.*17721A>G) | |
| 1 | g.109610043A>T | CA341541934 | GNAI3,GNAT2 | c.300T>A (p.Cys100Ter) c.*17721A>T (n.*17721A>T) | |
| 1 | g.109610044C>A | CA341541935 | GNAI3,GNAT2 | c.299G>T (p.Cys100Phe) c.*17722C>A (n.*17722C>A) | gnomAD v4 |
| 1 | g.109610044C= | CA1188172144 | GNAI3,GNAT2 | c.299G= (p.Cys100=) c.*17722C= (n.*17722C=) | |
| 1 | g.109610044C>G | CA341541936 | GNAI3,GNAT2 | c.299G>C (p.Cys100Ser) c.*17722C>G (n.*17722C>G) | |
| 1 | g.109610044C>T | CA992474 | GNAI3,GNAT2 | c.299G>A (p.Cys100Tyr) c.*17722C>T (n.*17722C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610045A>C | CA341541937 | GNAI3,GNAT2 | c.298T>G (p.Cys100Gly) c.*17723A>C (n.*17723A>C) | |
| 1 | g.109610045A>G | CA341541938 | GNAI3,GNAT2 | c.298T>C (p.Cys100Arg) c.*17723A>G (n.*17723A>G) | |
| 1 | g.109610045A>T | CA341541941 | GNAI3,GNAT2 | c.298T>A (p.Cys100Ser) c.*17723A>T (n.*17723A>T) | |
| 1 | g.109610046G>A | CA419369802 | GNAI3,GNAT2 | c.297C>T (p.Ser99=) c.*17724G>A (n.*17724G>A) | |
| 1 | g.109610046G>C | CA341541943 | GNAI3,GNAT2 | c.297C>G (p.Ser99Arg) c.*17724G>C (n.*17724G>C) | |
| 1 | g.109610046G= | CA1188172145 | GNAI3,GNAT2 | c.297C= (p.Ser99=) c.*17724G= (n.*17724G=) | |
| 1 | g.109610046G>T | CA341541944 | GNAI3,GNAT2 | c.297C>A (p.Ser99Arg) c.*17724G>T (n.*17724G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109610047C>A | CA341541946 | GNAI3,GNAT2 | c.296G>T (p.Ser99Ile) c.*17725C>A (n.*17725C>A) | |
| 1 | g.109610047C>G | CA341541948 | GNAI3,GNAT2 | c.296G>C (p.Ser99Thr) c.*17725C>G (n.*17725C>G) | gnomAD v4 |
| 1 | g.109610047C>T | CA341541950 | GNAI3,GNAT2 | c.296G>A (p.Ser99Asn) c.*17725C>T (n.*17725C>T) | |
| 1 | g.109610048T>A | CA341541952 | GNAI3,GNAT2 | c.295A>T (p.Ser99Cys) c.*17726T>A (n.*17726T>A) | |
| 1 | g.109610048T>C | CA341541953 | GNAI3,GNAT2 | c.295A>G (p.Ser99Gly) c.*17726T>C (n.*17726T>C) | |
| 1 | g.109610048T>G | CA992475 | GNAI3,GNAT2 | c.295A>C (p.Ser99Arg) c.*17726T>G (n.*17726T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610048T= | CA1188172146 | GNAI3,GNAT2 | c.295A= (p.Ser99=) c.*17726T= (n.*17726T=) | |
| 1 | g.109610049T>A | CA419369803 | GNAI3,GNAT2 | c.294A>T (p.Pro98=) c.*17727T>A (n.*17727T>A) | |
| 1 | g.109610049T>C | CA419369805 | GNAI3,GNAT2 | c.294A>G (p.Pro98=) c.*17727T>C (n.*17727T>C) | dbSNP |
| 1 | g.109610049T>G | CA419369804 | GNAI3,GNAT2 | c.294A>C (p.Pro98=) c.*17727T>G (n.*17727T>G) | |
| 1 | g.109610049T= | CA1188172147 | GNAI3,GNAT2 | c.294A= (p.Pro98=) c.*17727T= (n.*17727T=) | |
| 1 | g.109610050G>A | CA341541954 | GNAI3,GNAT2 | c.293C>T (p.Pro98Leu) c.*17728G>A (n.*17728G>A) | |
| 1 | g.109610050G>C | CA992476 | GNAI3,GNAT2 | c.293C>G (p.Pro98Arg) c.*17728G>C (n.*17728G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610050G= | CA1188172148 | GNAI3,GNAT2 | c.293C= (p.Pro98=) c.*17728G= (n.*17728G=) | |
| 1 | g.109610050G>T | CA341541956 | GNAI3,GNAT2 | c.293C>A (p.Pro98Gln) c.*17728G>T (n.*17728G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610051G>A | CA341541958 | GNAI3,GNAT2 | c.292C>T (p.Pro98Ser) c.*17729G>A (n.*17729G>A) | |
| 1 | g.109610051G>C | CA341541961 | GNAI3,GNAT2 | c.292C>G (p.Pro98Ala) c.*17729G>C (n.*17729G>C) | |
| 1 | g.109610051G= | CA1188172149 | GNAI3,GNAT2 | c.292C= (p.Pro98=) c.*17729G= (n.*17729G=) | |
| 1 | g.109610051G>T | CA341541963 | GNAI3,GNAT2 | c.292C>A (p.Pro98Thr) c.*17729G>T (n.*17729G>T) | |
| 1 | g.109610051_109610058delinsGTTCAGCA | CA1188172150 | GNAI3,GNAT2 | c.285_292delinsTGCTGAAC (p.Tyr95=) c.*17729_*17736delinsGTTCAGCA (n.*17729_*17736delinsGTTCAGCA) | |
| 1 | g.109610051_109610052insA | CA885375132 | GNAI3,GNAT2 | c.291_292insT (p.Pro98SerfsTer6) c.*17729_*17730insA (n.*17729_*17730insA) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610052T>A | CA341541965 | GNAI3,GNAT2 | c.291A>T (p.Glu97Asp) c.*17730T>A (n.*17730T>A) | |
| 1 | g.109610052T>C | CA419369806 | GNAI3,GNAT2 | c.291A>G (p.Glu97=) c.*17730T>C (n.*17730T>C) | |
| 1 | g.109610052T>G | CA341541964 | GNAI3,GNAT2 | c.291A>C (p.Glu97Asp) c.*17730T>G (n.*17730T>G) | |
| 1 | g.109610053del | CA2696633995 | GNAI3,GNAT2 | c.291del (p.Glu97AspfsTer?) c.*17731del (n.*17731del) | dbSNP |
| 1 | g.109610052_109610058delinsATACAG | CA913189335 | GNAI3,GNAT2 | c.285_291delinsCTGTAT (p.Ala96CysfsTer?) c.*17730_*17736delinsATACAG (n.*17730_*17736delinsATACAG) | ClinVar dbSNP |
| 1 | g.109610052_109610053insGTACTG | CA2535792220 | GNAI3,GNAT2 | c.290_291insCAGTAC (p.Glu97delinsAspSerThr) c.*17730_*17731insGTACTG (n.*17730_*17731insGTACTG) | |
| 1 | g.109610053T>A | CA341541968 | GNAI3,GNAT2 | c.290A>T (p.Glu97Val) c.*17731T>A (n.*17731T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610053T>C | CA341541970 | GNAI3,GNAT2 | c.290A>G (p.Glu97Gly) c.*17731T>C (n.*17731T>C) | |
| 1 | g.109610053T>G | CA341541972 | GNAI3,GNAT2 | c.290A>C (p.Glu97Ala) c.*17731T>G (n.*17731T>G) | |
| 1 | g.109610053T= | CA1188172151 | GNAI3,GNAT2 | c.290A= (p.Glu97=) c.*17731T= (n.*17731T=) | |
| 1 | g.109610054C>A | CA341541976 | GNAI3,GNAT2 | c.289G>T (p.Glu97Ter) c.*17732C>A (n.*17732C>A) | |
| 1 | g.109610054C>G | CA341541978 | GNAI3,GNAT2 | c.289G>C (p.Glu97Gln) c.*17732C>G (n.*17732C>G) | |
| 1 | g.109610054C>T | CA341541981 | GNAI3,GNAT2 | c.289G>A (p.Glu97Lys) c.*17732C>T (n.*17732C>T) | gnomAD v4 |
| 1 | g.109610054_109610055del | CA2563307875 | GNAI3,GNAT2 | c.288_289del (p.Glu97ThrfsTer6) c.*17732_*17733del (n.*17732_*17733del) | |
| 1 | g.109610055A>C | CA419369807 | GNAI3,GNAT2 | c.288T>G (p.Ala96=) c.*17733A>C (n.*17733A>C) | |
| 1 | g.109610055A>G | CA419369808 | GNAI3,GNAT2 | c.288T>C (p.Ala96=) c.*17733A>G (n.*17733A>G) | |
| 1 | g.109610055A>T | CA419369809 | GNAI3,GNAT2 | c.288T>A (p.Ala96=) c.*17733A>T (n.*17733A>T) | |
| 1 | g.109610056G>A | CA341541987 | GNAI3,GNAT2 | c.287C>T (p.Ala96Val) c.*17734G>A (n.*17734G>A) | |
| 1 | g.109610056G>C | CA341541984 | GNAI3,GNAT2 | c.287C>G (p.Ala96Gly) c.*17734G>C (n.*17734G>C) | gnomAD v4 |
| 1 | g.109610056G>T | CA341541985 | GNAI3,GNAT2 | c.287C>A (p.Ala96Asp) c.*17734G>T (n.*17734G>T) | |
| 1 | g.109610056_109610058delinsGCA | CA1188172152 | GNAI3,GNAT2 | c.285_287delinsTGC (p.Tyr95=) c.*17734_*17736delinsGCA (n.*17734_*17736delinsGCA) | |
| 1 | g.109610057C>A | CA341541988 | GNAI3,GNAT2 | c.286G>T (p.Ala96Ser) c.*17735C>A (n.*17735C>A) | |
| 1 | g.109610057C= | CA1188172153 | GNAI3,GNAT2 | c.286G= (p.Ala96=) c.*17735C= (n.*17735C=) | |
| 1 | g.109610057C>G | CA341541989 | GNAI3,GNAT2 | c.286G>C (p.Ala96Pro) c.*17735C>G (n.*17735C>G) | |
| 1 | g.109610057C>T | CA341541990 | GNAI3,GNAT2 | c.286G>A (p.Ala96Thr) c.*17735C>T (n.*17735C>T) | dbSNP gnomAD v2 |
| 1 | g.109610057_109610058del | CA885375141 | GNAI3,GNAT2 | c.285_286del (p.Ala96Ter) c.*17735_*17736del (n.*17735_*17736del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610058A>C | CA341541991 | GNAI3,GNAT2 | c.285T>G (p.Tyr95Ter) c.*17736A>C (n.*17736A>C) | |
| 1 | g.109610058A>G | CA419369810 | GNAI3,GNAT2 | c.285T>C (p.Tyr95=) c.*17736A>G (n.*17736A>G) | |
| 1 | g.109610058A>T | CA341541992 | GNAI3,GNAT2 | c.285T>A (p.Tyr95Ter) c.*17736A>T (n.*17736A>T) | gnomAD v4 |
| 1 | g.109610059T>A | CA341542001 | GNAI3,GNAT2 | c.284A>T (p.Tyr95Phe) c.*17737T>A (n.*17737T>A) | |
| 1 | g.109610059T>C | CA992477 | GNAI3,GNAT2 | c.284A>G (p.Tyr95Cys) c.*17737T>C (n.*17737T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610059T>G | CA341541999 | GNAI3,GNAT2 | c.284A>C (p.Tyr95Ser) c.*17737T>G (n.*17737T>G) | |
| 1 | g.109610059T= | CA1188172154 | GNAI3,GNAT2 | c.284A= (p.Tyr95=) c.*17737T= (n.*17737T=) | |
| 1 | g.109610060A>C | CA341542005 | GNAI3,GNAT2 | c.283T>G (p.Tyr95Asp) c.*17738A>C (n.*17738A>C) | |
| 1 | g.109610060A>G | CA341542006 | GNAI3,GNAT2 | c.283T>C (p.Tyr95His) c.*17738A>G (n.*17738A>G) | |
| 1 | g.109610060A>T | CA341542009 | GNAI3,GNAT2 | c.283T>A (p.Tyr95Asn) c.*17738A>T (n.*17738A>T) | |
| 1 | g.109610061A= | CA1188172155 | GNAI3,GNAT2 | c.282T= (p.Asp94=) c.*17739A= (n.*17739A=) | |
| 1 | g.109610061A>C | CA341542011 | GNAI3,GNAT2 | c.282T>G (p.Asp94Glu) c.*17739A>C (n.*17739A>C) | |
| 1 | g.109610061A>G | CA419369811 | GNAI3,GNAT2 | c.282T>C (p.Asp94=) c.*17739A>G (n.*17739A>G) | dbSNP gnomAD v4 |
| 1 | g.109610061A>T | CA341542012 | GNAI3,GNAT2 | c.282T>A (p.Asp94Glu) c.*17739A>T (n.*17739A>T) | |
| 1 | g.109610062T>A | CA341542013 | GNAI3,GNAT2 | c.281A>T (p.Asp94Val) c.*17740T>A (n.*17740T>A) | |
| 1 | g.109610062T>C | CA341542015 | GNAI3,GNAT2 | c.281A>G (p.Asp94Gly) c.*17740T>C (n.*17740T>C) | |
| 1 | g.109610062T>G | CA992478 | GNAI3,GNAT2 | c.281A>C (p.Asp94Ala) c.*17740T>G (n.*17740T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610062T= | CA1188172156 | GNAI3,GNAT2 | c.281A= (p.Asp94=) c.*17740T= (n.*17740T=) | |
| 1 | g.109610063C>A | CA341542020 | GNAI3,GNAT2 | c.280G>T (p.Asp94Tyr) c.*17741C>A (n.*17741C>A) | |
| 1 | g.109610063C= | CA1143492573 | GNAI3,GNAT2 | c.280G= (p.Asp94=) c.*17741C= (n.*17741C=) | |
| 1 | g.109610063C>G | CA341542021 | GNAI3,GNAT2 | c.280G>C (p.Asp94His) c.*17741C>G (n.*17741C>G) | |
| 1 | g.109610063C>T | CA992479 | GNAI3,GNAT2 | c.280G>A (p.Asp94Asn) c.*17741C>T (n.*17741C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610064G>A | CA419369812 | GNAI3,GNAT2 | c.279C>T (p.Ile93=) c.*17742G>A (n.*17742G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109610064G>C | CA341542022 | GNAI3,GNAT2 | c.279C>G (p.Ile93Met) c.*17742G>C (n.*17742G>C) | |
| 1 | g.109610064G= | CA1188172157 | GNAI3,GNAT2 | c.279C= (p.Ile93=) c.*17742G= (n.*17742G=) | |
| 1 | g.109610064G>T | CA419369813 | GNAI3,GNAT2 | c.279C>A (p.Ile93=) c.*17742G>T (n.*17742G>T) | |
| 1 | g.109610065A>C | CA341542034 | GNAI3,GNAT2 | c.278T>G (p.Ile93Ser) c.*17743A>C (n.*17743A>C) | |
| 1 | g.109610065A>G | CA341542024 | GNAI3,GNAT2 | c.278T>C (p.Ile93Thr) c.*17743A>G (n.*17743A>G) | |
| 1 | g.109610065A>T | CA341542031 | GNAI3,GNAT2 | c.278T>A (p.Ile93Asn) c.*17743A>T (n.*17743A>T) | |
| 1 | g.109610066T>A | CA341542042 | GNAI3,GNAT2 | c.277A>T (p.Ile93Phe) c.*17744T>A (n.*17744T>A) | |
| 1 | g.109610066T>C | CA341542048 | GNAI3,GNAT2 | c.277A>G (p.Ile93Val) c.*17744T>C (n.*17744T>C) | gnomAD v4 |
| 1 | g.109610066T>G | CA341542045 | GNAI3,GNAT2 | c.277A>C (p.Ile93Leu) c.*17744T>G (n.*17744T>G) | |
| 1 | g.109610067G>A | CA419369814 | GNAI3,GNAT2 | c.276C>T (p.Gly92=) c.*17745G>A (n.*17745G>A) | |
| 1 | g.109610067G>C | CA419369815 | GNAI3,GNAT2 | c.276C>G (p.Gly92=) c.*17745G>C (n.*17745G>C) | |
| 1 | g.109610067G>T | CA419369816 | GNAI3,GNAT2 | c.276C>A (p.Gly92=) c.*17745G>T (n.*17745G>T) | |
| 1 | g.109610068C>A | CA341542051 | GNAI3,GNAT2 | c.275G>T (p.Gly92Val) c.*17746C>A (n.*17746C>A) | |
| 1 | g.109610068C>G | CA341542056 | GNAI3,GNAT2 | c.275G>C (p.Gly92Ala) c.*17746C>G (n.*17746C>G) | gnomAD v4 COSMIC |
| 1 | g.109610068C>T | CA341542053 | GNAI3,GNAT2 | c.275G>A (p.Gly92Asp) c.*17746C>T (n.*17746C>T) | |
| 1 | g.109610069C>A | CA341542060 | GNAI3,GNAT2 | c.274G>T (p.Gly92Cys) c.*17747C>A (n.*17747C>A) | ClinVar dbSNP |
| 1 | g.109610069C= | CA1188172158 | GNAI3,GNAT2 | c.274G= (p.Gly92=) c.*17747C= (n.*17747C=) | |
| 1 | g.109610069C>G | CA341542061 | GNAI3,GNAT2 | c.274G>C (p.Gly92Arg) c.*17747C>G (n.*17747C>G) | |
| 1 | g.109610069C>T | CA341542063 | GNAI3,GNAT2 | c.274G>A (p.Gly92Ser) c.*17747C>T (n.*17747C>T) | dbSNP gnomAD v4 |
| 1 | g.109610070C>A | CA419369817 | GNAI3,GNAT2 | c.273G>T (p.Leu91=) c.*17748C>A (n.*17748C>A) | gnomAD v4 |
| 1 | g.109610070C= | CA1188172159 | GNAI3,GNAT2 | c.273G= (p.Leu91=) c.*17748C= (n.*17748C=) | |
| 1 | g.109610070C>G | CA419369818 | GNAI3,GNAT2 | c.273G>C (p.Leu91=) c.*17748C>G (n.*17748C>G) | |
| 1 | g.109610070C>T | CA419369819 | GNAI3,GNAT2 | c.273G>A (p.Leu91=) c.*17748C>T (n.*17748C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.109610071A= | CA1188172160 | GNAI3,GNAT2 | c.272T= (p.Leu91=) c.*17749A= (n.*17749A=) | |
| 1 | g.109610071A>C | CA341542068 | GNAI3,GNAT2 | c.272T>G (p.Leu91Arg) c.*17749A>C (n.*17749A>C) | gnomAD v4 |
| 1 | g.109610071A>G | CA341542070 | GNAI3,GNAT2 | c.272T>C (p.Leu91Pro) c.*17749A>G (n.*17749A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109610071A>T | CA341542072 | GNAI3,GNAT2 | c.272T>A (p.Leu91Gln) c.*17749A>T (n.*17749A>T) | gnomAD v4 |
| 1 | g.109610072G>A | CA992480 | GNAI3,GNAT2 | c.271C>T (p.Leu91=) c.*17750G>A (n.*17750G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610072G>C | CA341542077 | GNAI3,GNAT2 | c.271C>G (p.Leu91Val) c.*17750G>C (n.*17750G>C) | |
| 1 | g.109610072G= | CA1149154384 | GNAI3,GNAT2 | c.271C= (p.Leu91=) c.*17750G= (n.*17750G=) | |
| 1 | g.109610072G>T | CA341542080 | GNAI3,GNAT2 | c.271C>A (p.Leu91Met) c.*17750G>T (n.*17750G>T) | |
| 1 | g.109610073T>A | CA419369820 | GNAI3,GNAT2 | c.270A>T (p.Thr90=) c.*17751T>A (n.*17751T>A) | |
| 1 | g.109610073T>C | CA419369821 | GNAI3,GNAT2 | c.270A>G (p.Thr90=) c.*17751T>C (n.*17751T>C) | |
| 1 | g.109610073T>G | CA419369822 | GNAI3,GNAT2 | c.270A>C (p.Thr90=) c.*17751T>G (n.*17751T>G) | |
| 1 | g.109610074G>A | CA341542082 | GNAI3,GNAT2 | c.269C>T (p.Thr90Ile) c.*17752G>A (n.*17752G>A) | gnomAD v4 |
| 1 | g.109610074G>C | CA341542085 | GNAI3,GNAT2 | c.269C>G (p.Thr90Arg) c.*17752G>C (n.*17752G>C) | |
| 1 | g.109610074G>T | CA341542086 | GNAI3,GNAT2 | c.269C>A (p.Thr90Lys) c.*17752G>T (n.*17752G>T) | |
| 1 | g.109610075T>A | CA341542090 | GNAI3,GNAT2 | c.268A>T (p.Thr90Ser) c.*17753T>A (n.*17753T>A) | |
| 1 | g.109610075T>C | CA341542093 | GNAI3,GNAT2 | c.268A>G (p.Thr90Ala) c.*17753T>C (n.*17753T>C) | |
| 1 | g.109610075T>G | CA341542092 | GNAI3,GNAT2 | c.268A>C (p.Thr90Pro) c.*17753T>G (n.*17753T>G) | |
| 1 | g.109610076G>A | CA419369825 | GNAI3,GNAT2 | c.267C>T (p.Thr89=) c.*17754G>A (n.*17754G>A) | |
| 1 | g.109610076G>C | CA419369824 | GNAI3,GNAT2 | c.267C>G (p.Thr89=) c.*17754G>C (n.*17754G>C) | |
| 1 | g.109610076G>T | CA419369823 | GNAI3,GNAT2 | c.267C>A (p.Thr89=) c.*17754G>T (n.*17754G>T) | |
| 1 | g.109610077G>A | CA341542095 | GNAI3,GNAT2 | c.266C>T (p.Thr89Ile) c.*17755G>A (n.*17755G>A) | dbSNP gnomAD v4 |
| 1 | g.109610077G>C | CA341542097 | GNAI3,GNAT2 | c.266C>G (p.Thr89Ser) c.*17755G>C (n.*17755G>C) | |
| 1 | g.109610077G= | CA1188172161 | GNAI3,GNAT2 | c.266C= (p.Thr89=) c.*17755G= (n.*17755G=) | |
| 1 | g.109610077G>T | CA341542099 | GNAI3,GNAT2 | c.266C>A (p.Thr89Asn) c.*17755G>T (n.*17755G>T) | |
| 1 | g.109610077_109610078del | CA2646962272 | GNAI3,GNAT2 | c.265_266del (p.Thr89HisfsTer8) c.*17755_*17756del (n.*17755_*17756del) | gnomAD v4 |
| 1 | g.109610078T>A | CA341542101 | GNAI3,GNAT2 | c.265A>T (p.Thr89Ser) c.*17756T>A (n.*17756T>A) | |
| 1 | g.109610078T>C | CA341542103 | GNAI3,GNAT2 | c.265A>G (p.Thr89Ala) c.*17756T>C (n.*17756T>C) | dbSNP |
| 1 | g.109610078T>G | CA341542104 | GNAI3,GNAT2 | c.265A>C (p.Thr89Pro) c.*17756T>G (n.*17756T>G) | |
| 1 | g.109610078T= | CA1188172162 | GNAI3,GNAT2 | c.265A= (p.Thr89=) c.*17756T= (n.*17756T=) | |
| 1 | g.109610079C>A | CA341542107 | GNAI3,GNAT2 | c.264G>T (p.Met88Ile) c.*17757C>A (n.*17757C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610079C= | CA1188172163 | GNAI3,GNAT2 | c.264G= (p.Met88=) c.*17757C= (n.*17757C=) | |
| 1 | g.109610079C>G | CA341542109 | GNAI3,GNAT2 | c.264G>C (p.Met88Ile) c.*17757C>G (n.*17757C>G) | |
| 1 | g.109610079C>T | CA341542111 | GNAI3,GNAT2 | c.264G>A (p.Met88Ile) c.*17757C>T (n.*17757C>T) | |
| 1 | g.109610080A>C | CA341542117 | GNAI3,GNAT2 | c.263T>G (p.Met88Arg) c.*17758A>C (n.*17758A>C) | |
| 1 | g.109610080A>G | CA341542116 | GNAI3,GNAT2 | c.263T>C (p.Met88Thr) c.*17758A>G (n.*17758A>G) | |
| 1 | g.109610080A>T | CA341542114 | GNAI3,GNAT2 | c.263T>A (p.Met88Lys) c.*17758A>T (n.*17758A>T) | |
| 1 | g.109610081T>A | CA341542119 | GNAI3,GNAT2 | c.262A>T (p.Met88Leu) c.*17759T>A (n.*17759T>A) | |
| 1 | g.109610081T>C | CA341542121 | GNAI3,GNAT2 | c.262A>G (p.Met88Val) c.*17759T>C (n.*17759T>C) | |
| 1 | g.109610081T>G | CA341542123 | GNAI3,GNAT2 | c.262A>C (p.Met88Leu) c.*17759T>G (n.*17759T>G) | |
| 1 | g.109610082G>A | CA419369826 | GNAI3,GNAT2 | c.261C>T (p.Ala87=) c.*17760G>A (n.*17760G>A) | |
| 1 | g.109610082G>C | CA419369828 | GNAI3,GNAT2 | c.261C>G (p.Ala87=) c.*17760G>C (n.*17760G>C) | |
| 1 | g.109610082G>T | CA419369827 | GNAI3,GNAT2 | c.261C>A (p.Ala87=) c.*17760G>T (n.*17760G>T) | |
| 1 | g.109610083G>A | CA341542125 | GNAI3,GNAT2 | c.260C>T (p.Ala87Val) c.*17761G>A (n.*17761G>A) | |
| 1 | g.109610083G>C | CA341542128 | GNAI3,GNAT2 | c.260C>G (p.Ala87Gly) c.*17761G>C (n.*17761G>C) | |
| 1 | g.109610083G>T | CA341542129 | GNAI3,GNAT2 | c.260C>A (p.Ala87Asp) c.*17761G>T (n.*17761G>T) | |
| 1 | g.109610084C>A | CA341542130 | GNAI3,GNAT2 | c.259G>T (p.Ala87Ser) c.*17762C>A (n.*17762C>A) | |
| 1 | g.109610084C>G | CA341542131 | GNAI3,GNAT2 | c.259G>C (p.Ala87Pro) c.*17762C>G (n.*17762C>G) | |
| 1 | g.109610084C>T | CA341542133 | GNAI3,GNAT2 | c.259G>A (p.Ala87Thr) c.*17762C>T (n.*17762C>T) | |
| 1 | g.109610085C>A | CA419369829 | GNAI3,GNAT2 | c.258G>T (p.Arg86=) c.*17763C>A (n.*17763C>A) | |
| 1 | g.109610085C>G | CA419369830 | GNAI3,GNAT2 | c.258G>C (p.Arg86=) c.*17763C>G (n.*17763C>G) | |
| 1 | g.109610085C>T | CA419369831 | GNAI3,GNAT2 | c.258G>A (p.Arg86=) c.*17763C>T (n.*17763C>T) | |
| 1 | g.109610086C>A | CA341542137 | GNAI3,GNAT2 | c.257G>T (p.Arg86Leu) c.*17764C>A (n.*17764C>A) | gnomAD v4 |
| 1 | g.109610086C= | CA1141730892 | GNAI3,GNAT2 | c.257G= (p.Arg86=) c.*17764C= (n.*17764C=) | |
| 1 | g.109610086C>G | CA992482 | GNAI3,GNAT2 | c.257G>C (p.Arg86Pro) c.*17764C>G (n.*17764C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610086C>T | CA992481 | GNAI3,GNAT2 | c.257G>A (p.Arg86Gln) c.*17764C>T (n.*17764C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610087G>A | CA992483 | GNAI3,GNAT2 | c.256C>T (p.Arg86Trp) c.*17765G>A (n.*17765G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109610087G>C | CA341542140 | GNAI3,GNAT2 | c.256C>G (p.Arg86Gly) c.*17765G>C (n.*17765G>C) | |
| 1 | g.109610087G= | CA1149052910 | GNAI3,GNAT2 | c.256C= (p.Arg86=) c.*17765G= (n.*17765G=) | |
| 1 | g.109610087G>T | CA419369832 | GNAI3,GNAT2 | c.256C>A (p.Arg86=) c.*17765G>T (n.*17765G>T) | |
| 1 | g.109610088G>A | CA28681739 | GNAI3,GNAT2 | c.255C>T (p.Ile85=) c.*17766G>A (n.*17766G>A) | dbSNP |
| 1 | g.109610088G>C | CA341542145 | GNAI3,GNAT2 | c.255C>G (p.Ile85Met) c.*17766G>C (n.*17766G>C) | |
| 1 | g.109610088G= | CA1148011335 | GNAI3,GNAT2 | c.255C= (p.Ile85=) c.*17766G= (n.*17766G=) | |
| 1 | g.109610088G>T | CA419369833 | GNAI3,GNAT2 | c.255C>A (p.Ile85=) c.*17766G>T (n.*17766G>T) | gnomAD v4 |
| 1 | g.109610098_109610133del | CA2646962293 | GNAI3,GNAT2 | c.220_255del (p.Tyr74_Ile85del) c.*17776_*17811del (n.*17776_*17811del) | gnomAD v4 |
| 1 | g.109610089A= | CA1188172164 | GNAI3,GNAT2 | c.254T= (p.Ile85=) c.*17767A= (n.*17767A=) | |
| 1 | g.109610089A>C | CA992484 | GNAI3,GNAT2 | c.254T>G (p.Ile85Ser) c.*17767A>C (n.*17767A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610089A>G | CA341542154 | GNAI3,GNAT2 | c.254T>C (p.Ile85Thr) c.*17767A>G (n.*17767A>G) | |
| 1 | g.109610089A>T | CA341542156 | GNAI3,GNAT2 | c.254T>A (p.Ile85Asn) c.*17767A>T (n.*17767A>T) | |
| 1 | g.109610090T>A | CA341542158 | GNAI3,GNAT2 | c.253A>T (p.Ile85Phe) c.*17768T>A (n.*17768T>A) | |
| 1 | g.109610090T>C | CA341542160 | GNAI3,GNAT2 | c.253A>G (p.Ile85Val) c.*17768T>C (n.*17768T>C) | |
| 1 | g.109610090T>G | CA341542161 | GNAI3,GNAT2 | c.253A>C (p.Ile85Leu) c.*17768T>G (n.*17768T>G) | |
| 1 | g.109610091G>A | CA419369834 | GNAI3,GNAT2 | c.252C>T (p.Ile84=) c.*17769G>A (n.*17769G>A) | |
| 1 | g.109610091G>C | CA341542164 | GNAI3,GNAT2 | c.252C>G (p.Ile84Met) c.*17769G>C (n.*17769G>C) | |
| 1 | g.109610091G= | CA1143806911 | GNAI3,GNAT2 | c.252C= (p.Ile84=) c.*17769G= (n.*17769G=) | |
| 1 | g.109610091G>T | CA992485 | GNAI3,GNAT2 | c.252C>A (p.Ile84=) c.*17769G>T (n.*17769G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610092A>C | CA341542169 | GNAI3,GNAT2 | c.251T>G (p.Ile84Ser) c.*17770A>C (n.*17770A>C) | |
| 1 | g.109610092A>G | CA341542171 | GNAI3,GNAT2 | c.251T>C (p.Ile84Thr) c.*17770A>G (n.*17770A>G) | |
| 1 | g.109610092A>T | CA341542173 | GNAI3,GNAT2 | c.251T>A (p.Ile84Asn) c.*17770A>T (n.*17770A>T) | |
| 1 | g.109610093T>A | CA341542177 | GNAI3,GNAT2 | c.250A>T (p.Ile84Phe) c.*17771T>A (n.*17771T>A) | |
| 1 | g.109610093T>C | CA992486 | GNAI3,GNAT2 | c.250A>G (p.Ile84Val) c.*17771T>C (n.*17771T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610093T>G | CA341542174 | GNAI3,GNAT2 | c.250A>C (p.Ile84Leu) c.*17771T>G (n.*17771T>G) | |
| 1 | g.109610093T= | CA1148456956 | GNAI3,GNAT2 | c.250A= (p.Ile84=) c.*17771T= (n.*17771T=) | |
| 1 | g.109610094A>C | CA419369835 | GNAI3,GNAT2 | c.249T>G (p.Ala83=) c.*17772A>C (n.*17772A>C) | |
| 1 | g.109610094A>G | CA419369836 | GNAI3,GNAT2 | c.249T>C (p.Ala83=) c.*17772A>G (n.*17772A>G) | |
| 1 | g.109610094A>T | CA419369837 | GNAI3,GNAT2 | c.249T>A (p.Ala83=) c.*17772A>T (n.*17772A>T) | |
| 1 | g.109610095G>A | CA341542183 | GNAI3,GNAT2 | c.248C>T (p.Ala83Val) c.*17773G>A (n.*17773G>A) | gnomAD v4 |
| 1 | g.109610095G>C | CA341542179 | GNAI3,GNAT2 | c.248C>G (p.Ala83Gly) c.*17773G>C (n.*17773G>C) | |
| 1 | g.109610095G>T | CA341542181 | GNAI3,GNAT2 | c.248C>A (p.Ala83Asp) c.*17773G>T (n.*17773G>T) | |
| 1 | g.109610096C>A | CA341542184 | GNAI3,GNAT2 | c.247G>T (p.Ala83Ser) c.*17774C>A (n.*17774C>A) | |
| 1 | g.109610096C>G | CA341542186 | GNAI3,GNAT2 | c.247G>C (p.Ala83Pro) c.*17774C>G (n.*17774C>G) | |
| 1 | g.109610096C>T | CA341542188 | GNAI3,GNAT2 | c.247G>A (p.Ala83Thr) c.*17774C>T (n.*17774C>T) | |
| 1 | g.109610097C>A | CA419369838 | GNAI3,GNAT2 | c.246G>T (p.Leu82=) c.*17775C>A (n.*17775C>A) | |
| 1 | g.109610097C= | CA1143272482 | GNAI3,GNAT2 | c.246G= (p.Leu82=) c.*17775C= (n.*17775C=) | |
| 1 | g.109610097C>G | CA419369839 | GNAI3,GNAT2 | c.246G>C (p.Leu82=) c.*17775C>G (n.*17775C>G) | |
| 1 | g.109610097C>T | CA992487 | GNAI3,GNAT2 | c.246G>A (p.Leu82=) c.*17775C>T (n.*17775C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610098A>C | CA341542193 | GNAI3,GNAT2 | c.245T>G (p.Leu82Arg) c.*17776A>C (n.*17776A>C) | |
| 1 | g.109610098A>G | CA341542195 | GNAI3,GNAT2 | c.245T>C (p.Leu82Pro) c.*17776A>G (n.*17776A>G) | |
| 1 | g.109610098A>T | CA341542197 | GNAI3,GNAT2 | c.245T>A (p.Leu82Gln) c.*17776A>T (n.*17776A>T) | |
| 1 | g.109610099G>A | CA419369840 | GNAI3,GNAT2 | c.244C>T (p.Leu82=) c.*17777G>A (n.*17777G>A) | |
| 1 | g.109610099G>C | CA341542199 | GNAI3,GNAT2 | c.244C>G (p.Leu82Val) c.*17777G>C (n.*17777G>C) | |
| 1 | g.109610099G>T | CA341542201 | GNAI3,GNAT2 | c.244C>A (p.Leu82Met) c.*17777G>T (n.*17777G>T) | COSMIC |
| 1 | g.109610100G>A | CA28681754 | GNAI3,GNAT2 | c.243C>T (p.Ile81=) c.*17778G>A (n.*17778G>A) | dbSNP gnomAD v4 |
| 1 | g.109610100G>C | CA992488 | GNAI3,GNAT2 | c.243C>G (p.Ile81Met) c.*17778G>C (n.*17778G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109610100G= | CA1143409392 | GNAI3,GNAT2 | c.243C= (p.Ile81=) c.*17778G= (n.*17778G=) | |
| 1 | g.109610100G>T | CA419369841 | GNAI3,GNAT2 | c.243C>A (p.Ile81=) c.*17778G>T (n.*17778G>T) | |
| 1 | g.109610101A= | CA1188172165 | GNAI3,GNAT2 | c.242T= (p.Ile81=) c.*17779A= (n.*17779A=) | |
| 1 | g.109610101A>C | CA341542211 | GNAI3,GNAT2 | c.242T>G (p.Ile81Ser) c.*17779A>C (n.*17779A>C) | |
| 1 | g.109610101A>G | CA341542208 | GNAI3,GNAT2 | c.242T>C (p.Ile81Thr) c.*17779A>G (n.*17779A>G) | |
| 1 | g.109610101A>T | CA341542206 | GNAI3,GNAT2 | c.242T>A (p.Ile81Asn) c.*17779A>T (n.*17779A>T) | dbSNP |
| 1 | g.109610102T>A | CA341542215 | GNAI3,GNAT2 | c.241A>T (p.Ile81Phe) c.*17780T>A (n.*17780T>A) | |
| 1 | g.109610102T>C | CA341542217 | GNAI3,GNAT2 | c.241A>G (p.Ile81Val) c.*17780T>C (n.*17780T>C) | |
| 1 | g.109610102T>G | CA341542220 | GNAI3,GNAT2 | c.241A>C (p.Ile81Leu) c.*17780T>G (n.*17780T>G) | |
| 1 | g.109610103G>A | CA419369842 | GNAI3,GNAT2 | c.240C>T (p.Ser80=) c.*17781G>A (n.*17781G>A) | |
| 1 | g.109610103G>C | CA419369843 | GNAI3,GNAT2 | c.240C>G (p.Ser80=) c.*17781G>C (n.*17781G>C) | |
| 1 | g.109610103G>T | CA419369844 | GNAI3,GNAT2 | c.240C>A (p.Ser80=) c.*17781G>T (n.*17781G>T) | |
| 1 | g.109610104G>A | CA341542223 | GNAI3,GNAT2 | c.239C>T (p.Ser80Phe) c.*17782G>A (n.*17782G>A) | gnomAD v4 |
| 1 | g.109610104G>C | CA341542225 | GNAI3,GNAT2 | c.239C>G (p.Ser80Cys) c.*17782G>C (n.*17782G>C) | |
| 1 | g.109610104G>T | CA341542227 | GNAI3,GNAT2 | c.239C>A (p.Ser80Tyr) c.*17782G>T (n.*17782G>T) | |
| 1 | g.109610105A>C | CA341542230 | GNAI3,GNAT2 | c.238T>G (p.Ser80Ala) c.*17783A>C (n.*17783A>C) | |
| 1 | g.109610105A>G | CA341542232 | GNAI3,GNAT2 | c.238T>C (p.Ser80Pro) c.*17783A>G (n.*17783A>G) | |
| 1 | g.109610105A>T | CA341542235 | GNAI3,GNAT2 | c.238T>A (p.Ser80Thr) c.*17783A>T (n.*17783A>T) | |
| 1 | g.109610106C>A | CA341542237 | GNAI3,GNAT2 | c.237G>T (p.Gln79His) c.*17784C>A (n.*17784C>A) | |
| 1 | g.109610106C>G | CA341542239 | GNAI3,GNAT2 | c.237G>C (p.Gln79His) c.*17784C>G (n.*17784C>G) | |
| 1 | g.109610106C>T | CA419369845 | GNAI3,GNAT2 | c.237G>A (p.Gln79=) c.*17784C>T (n.*17784C>T) | gnomAD v4 |
| 1 | g.109610107T>A | CA341542242 | GNAI3,GNAT2 | c.236A>T (p.Gln79Leu) c.*17785T>A (n.*17785T>A) | |
| 1 | g.109610107T>C | CA341542243 | GNAI3,GNAT2 | c.236A>G (p.Gln79Arg) c.*17785T>C (n.*17785T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610107T>G | CA341542245 | GNAI3,GNAT2 | c.236A>C (p.Gln79Pro) c.*17785T>G (n.*17785T>G) | |
| 1 | g.109610107T= | CA1188172166 | GNAI3,GNAT2 | c.236A= (p.Gln79=) c.*17785T= (n.*17785T=) | |
| 1 | g.109610108G>A | CA257403 | GNAI3,GNAT2 | c.235C>T (p.Gln79Ter) c.*17786G>A (n.*17786G>A) | ClinVar dbSNP |
| 1 | g.109610108G>C | CA341542251 | GNAI3,GNAT2 | c.235C>G (p.Gln79Glu) c.*17786G>C (n.*17786G>C) | |
| 1 | g.109610108G= | CA1141580976 | GNAI3,GNAT2 | c.235C= (p.Gln79=) c.*17786G= (n.*17786G=) | |
| 1 | g.109610108G>T | CA341542247 | GNAI3,GNAT2 | c.235C>A (p.Gln79Lys) c.*17786G>T (n.*17786G>T) | |
| 1 | g.109610108dup | CA2646962337 | GNAI3,GNAT2 | c.235dup (p.Gln79ProfsTer19) c.*17786dup (n.*17786dup) | gnomAD v4 |
| 1 | g.109610109del | CA2696634007 | GNAI3,GNAT2 | c.234del (p.Gln79SerfsTer10) c.*17787del (n.*17787del) | dbSNP |
| 1 | g.109610109C>A | CA419369846 | GNAI3,GNAT2 | c.234G>T (p.Leu78=) c.*17787C>A (n.*17787C>A) | |
| 1 | g.109610109C>G | CA419369847 | GNAI3,GNAT2 | c.234G>C (p.Leu78=) c.*17787C>G (n.*17787C>G) | |
| 1 | g.109610109C>T | CA419369848 | GNAI3,GNAT2 | c.234G>A (p.Leu78=) c.*17787C>T (n.*17787C>T) | gnomAD v4 |
| 1 | g.109610110A>C | CA341542254 | GNAI3,GNAT2 | c.233T>G (p.Leu78Arg) c.*17788A>C (n.*17788A>C) | |
| 1 | g.109610110A>G | CA341542256 | GNAI3,GNAT2 | c.233T>C (p.Leu78Pro) c.*17788A>G (n.*17788A>G) | |
| 1 | g.109610110A>T | CA341542259 | GNAI3,GNAT2 | c.233T>A (p.Leu78Gln) c.*17788A>T (n.*17788A>T) | |
| 1 | g.109610111G>A | CA419369849 | GNAI3,GNAT2 | c.232C>T (p.Leu78=) c.*17789G>A (n.*17789G>A) | |
| 1 | g.109610111G>C | CA341542261 | GNAI3,GNAT2 | c.232C>G (p.Leu78Val) c.*17789G>C (n.*17789G>C) | |
| 1 | g.109610111G>T | CA341542263 | GNAI3,GNAT2 | c.232C>A (p.Leu78Met) c.*17789G>T (n.*17789G>T) | |
| 1 | g.109610112C>A | CA419369852 | GNAI3,GNAT2 | c.231G>T (p.Val77=) c.*17790C>A (n.*17790C>A) | |
| 1 | g.109610112C>G | CA419369851 | GNAI3,GNAT2 | c.231G>C (p.Val77=) c.*17790C>G (n.*17790C>G) | |
| 1 | g.109610112C>T | CA419369850 | GNAI3,GNAT2 | c.231G>A (p.Val77=) c.*17790C>T (n.*17790C>T) | |
| 1 | g.109610113A>C | CA341542269 | GNAI3,GNAT2 | c.230T>G (p.Val77Gly) c.*17791A>C (n.*17791A>C) | gnomAD v4 |
| 1 | g.109610113A>G | CA341542271 | GNAI3,GNAT2 | c.230T>C (p.Val77Ala) c.*17791A>G (n.*17791A>G) | |
| 1 | g.109610113A>T | CA341542276 | GNAI3,GNAT2 | c.230T>A (p.Val77Glu) c.*17791A>T (n.*17791A>T) | |
| 1 | g.109610114C>A | CA341542282 | GNAI3,GNAT2 | c.229G>T (p.Val77Leu) c.*17792C>A (n.*17792C>A) | |
| 1 | g.109610114C= | CA1188172167 | GNAI3,GNAT2 | c.229G= (p.Val77=) c.*17792C= (n.*17792C=) | |
| 1 | g.109610114C>G | CA341542286 | GNAI3,GNAT2 | c.229G>C (p.Val77Leu) c.*17792C>G (n.*17792C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109610114C>T | CA341542290 | GNAI3,GNAT2 | c.229G>A (p.Val77Met) c.*17792C>T (n.*17792C>T) | |
| 1 | g.109610115A>C | CA341542296 | GNAI3,GNAT2 | c.228T>G (p.Asn76Lys) c.*17793A>C (n.*17793A>C) | |
| 1 | g.109610115A>G | CA419369853 | GNAI3,GNAT2 | c.228T>C (p.Asn76=) c.*17793A>G (n.*17793A>G) | |
| 1 | g.109610115A>T | CA341542299 | GNAI3,GNAT2 | c.228T>A (p.Asn76Lys) c.*17793A>T (n.*17793A>T) | |
| 1 | g.109610116T>A | CA341542305 | GNAI3,GNAT2 | c.227A>T (p.Asn76Ile) c.*17794T>A (n.*17794T>A) | |
| 1 | g.109610116T>C | CA341542310 | GNAI3,GNAT2 | c.227A>G (p.Asn76Ser) c.*17794T>C (n.*17794T>C) | |
| 1 | g.109610116T>G | CA341542308 | GNAI3,GNAT2 | c.227A>C (p.Asn76Thr) c.*17794T>G (n.*17794T>G) | |
| 1 | g.109610117T>A | CA341542316 | GNAI3,GNAT2 | c.226A>T (p.Asn76Tyr) c.*17795T>A (n.*17795T>A) | |
| 1 | g.109610117T>C | CA341542319 | GNAI3,GNAT2 | c.226A>G (p.Asn76Asp) c.*17795T>C (n.*17795T>C) | |
| 1 | g.109610117T>G | CA341542322 | GNAI3,GNAT2 | c.226A>C (p.Asn76His) c.*17795T>G (n.*17795T>G) | |
| 1 | g.109610118T>A | CA419369854 | GNAI3,GNAT2 | c.225A>T (p.Gly75=) c.*17796T>A (n.*17796T>A) | |
| 1 | g.109610118T>C | CA419369855 | GNAI3,GNAT2 | c.225A>G (p.Gly75=) c.*17796T>C (n.*17796T>C) | |
| 1 | g.109610118T>G | CA419369856 | GNAI3,GNAT2 | c.225A>C (p.Gly75=) c.*17796T>G (n.*17796T>G) | |
| 1 | g.109610119C>A | CA341542327 | GNAI3,GNAT2 | c.224G>T (p.Gly75Val) c.*17797C>A (n.*17797C>A) | |
| 1 | g.109610119C>G | CA341542328 | GNAI3,GNAT2 | c.224G>C (p.Gly75Ala) c.*17797C>G (n.*17797C>G) | |
| 1 | g.109610119C>T | CA341542331 | GNAI3,GNAT2 | c.224G>A (p.Gly75Glu) c.*17797C>T (n.*17797C>T) | |
| 1 | g.109610120C>A | CA341542335 | GNAI3,GNAT2 | c.223G>T (p.Gly75Ter) c.*17798C>A (n.*17798C>A) | |
| 1 | g.109610120C>G | CA341542337 | GNAI3,GNAT2 | c.223G>C (p.Gly75Arg) c.*17798C>G (n.*17798C>G) | |
| 1 | g.109610120C>T | CA341542339 | GNAI3,GNAT2 | c.223G>A (p.Gly75Arg) c.*17798C>T (n.*17798C>T) | gnomAD v4 |
| 1 | g.109610121A= | CA1188172168 | GNAI3,GNAT2 | c.222T= (p.Tyr74=) c.*17799A= (n.*17799A=) | |
| 1 | g.109610121A>C | CA341542342 | GNAI3,GNAT2 | c.222T>G (p.Tyr74Ter) c.*17799A>C (n.*17799A>C) | |
| 1 | g.109610121A>G | CA28681765 | GNAI3,GNAT2 | c.222T>C (p.Tyr74=) c.*17799A>G (n.*17799A>G) | dbSNP gnomAD v4 |
| 1 | g.109610121A>T | CA341542345 | GNAI3,GNAT2 | c.222T>A (p.Tyr74Ter) c.*17799A>T (n.*17799A>T) | |
| 1 | g.109610122T>A | CA341542352 | GNAI3,GNAT2 | c.221A>T (p.Tyr74Phe) c.*17800T>A (n.*17800T>A) | |
| 1 | g.109610122T>C | CA992489 | GNAI3,GNAT2 | c.221A>G (p.Tyr74Cys) c.*17800T>C (n.*17800T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109610122T>G | CA341542349 | GNAI3,GNAT2 | c.221A>C (p.Tyr74Ser) c.*17800T>G (n.*17800T>G) | |
| 1 | g.109610122T= | CA1148271297 | GNAI3,GNAT2 | c.221A= (p.Tyr74=) c.*17800T= (n.*17800T=) |