Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77933268_77933273delinsATTATTCA1177626649NEXNc.1054-14_1054-9delinsATTATT (n.1054-14_1054-9delinsATTATT)
c.862-14_862-9delinsATTATT (n.862-14_862-9delinsATTATT)
c.753-14_753-9delinsATTATT
c.1012-14_1012-9delinsATTATT (n.1012-14_1012-9delinsATTATT)
n.514-14_514-9delinsATTATT
n.614_619delinsATTATT
c.820-14_820-9delinsATTATT (n.820-14_820-9delinsATTATT)
c.637-14_637-9delinsATTATT (n.637-14_637-9delinsATTATT)
1g.77933272_77933276delCA739053040NEXNc.1054-10_1054-6del (n.1054-10_1054-6del)
c.862-10_862-6del (n.862-10_862-6del)
c.753-10_753-6del
c.1012-10_1012-6del (n.1012-10_1012-6del)
n.514-10_514-6del
n.618_622del
c.820-10_820-6del (n.820-10_820-6del)
c.637-10_637-6del (n.637-10_637-6del)
 dbSNP gnomAD v3 gnomAD v4
1g.77933271A>TCA2646274513NEXNc.1054-11A>T (n.1054-11A>T)
c.862-11A>T (n.862-11A>T)
c.753-11A>T
c.1012-11A>T (n.1012-11A>T)
n.514-11A>T
n.617A>T
c.820-11A>T (n.820-11A>T)
c.637-11A>T (n.637-11A>T)
 gnomAD v4
1g.77933273T>CCA1003481408NEXNc.1054-9T>C (n.1054-9T>C)
c.862-9T>C (n.862-9T>C)
c.753-9T>C
c.1012-9T>C (n.1012-9T>C)
n.514-9T>C
n.619T>C
c.820-9T>C (n.820-9T>C)
c.637-9T>C (n.637-9T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.77933273T>GCA918799NEXNc.1054-9T>G (n.1054-9T>G)
c.862-9T>G (n.862-9T>G)
c.753-9T>G
c.1012-9T>G (n.1012-9T>G)
n.514-9T>G
n.619T>G
c.820-9T>G (n.820-9T>G)
c.637-9T>G (n.637-9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933273T=CA1177626651NEXNc.1054-9T= (n.1054-9T=)
c.862-9T= (n.862-9T=)
c.753-9T=
c.1012-9T= (n.1012-9T=)
n.514-9T=
n.619T=
c.820-9T= (n.820-9T=)
c.637-9T= (n.637-9T=)
1g.77933274T>CCA2646274514NEXNc.1054-8T>C (n.1054-8T>C)
c.862-8T>C (n.862-8T>C)
c.753-8T>C
c.1012-8T>C (n.1012-8T>C)
n.514-8T>C
n.620T>C
c.820-8T>C (n.820-8T>C)
c.637-8T>C (n.637-8T>C)
 gnomAD v4
1g.77933275T>CCA1177626653NEXNc.1054-7T>C (n.1054-7T>C)
c.862-7T>C (n.862-7T>C)
c.753-7T>C
c.1012-7T>C (n.1012-7T>C)
n.514-7T>C
n.621T>C
c.820-7T>C (n.820-7T>C)
c.637-7T>C (n.637-7T>C)
 dbSNP gnomAD v4
1g.77933275T=CA1177626652NEXNc.1054-7T= (n.1054-7T=)
c.862-7T= (n.862-7T=)
c.753-7T=
c.1012-7T= (n.1012-7T=)
n.514-7T=
n.621T=
c.820-7T= (n.820-7T=)
c.637-7T= (n.637-7T=)
1g.77933276A>GCA2646274515NEXNc.1054-6A>G (n.1054-6A>G)
c.862-6A>G (n.862-6A>G)
c.753-6A>G
c.1012-6A>G (n.1012-6A>G)
n.514-6A>G
n.622A>G
c.820-6A>G (n.820-6A>G)
c.637-6A>G (n.637-6A>G)
 gnomAD v4
1g.77933276A>TCA2646274516NEXNc.1054-6A>T (n.1054-6A>T)
c.862-6A>T (n.862-6A>T)
c.753-6A>T
c.1012-6A>T (n.1012-6A>T)
n.514-6A>T
n.622A>T
c.820-6A>T (n.820-6A>T)
c.637-6A>T (n.637-6A>T)
 gnomAD v4
1g.77933279T>CCA2646274517NEXNc.1054-3T>C (n.1054-3T>C)
c.862-3T>C (n.862-3T>C)
c.753-3T>C
c.1012-3T>C (n.1012-3T>C)
n.514-3T>C
n.625T>C
c.820-3T>C (n.820-3T>C)
c.637-3T>C (n.637-3T>C)
 gnomAD v4
1g.77933280A>CCA340876465NEXNc.1054-2A>C (n.1054-2A>C)
c.862-2A>C (n.862-2A>C)
c.753-2A>C
c.1012-2A>C (n.1012-2A>C)
n.514-2A>C
n.626A>C
c.820-2A>C (n.820-2A>C)
c.637-2A>C (n.637-2A>C)
1g.77933280A>GCA340876468NEXNc.1054-2A>G (n.1054-2A>G)
c.862-2A>G (n.862-2A>G)
c.753-2A>G
c.1012-2A>G (n.1012-2A>G)
n.514-2A>G
n.626A>G
c.820-2A>G (n.820-2A>G)
c.637-2A>G (n.637-2A>G)
1g.77933280A>TCA340876470NEXNc.1054-2A>T (n.1054-2A>T)
c.862-2A>T (n.862-2A>T)
c.753-2A>T
c.1012-2A>T (n.1012-2A>T)
n.514-2A>T
n.626A>T
c.820-2A>T (n.820-2A>T)
c.637-2A>T (n.637-2A>T)
1g.77933281G>ACA340876472NEXNc.1054-1G>A (n.1054-1G>A)
c.862-1G>A (n.862-1G>A)
c.753-1G>A
c.1012-1G>A (n.1012-1G>A)
n.514-1G>A
n.627G>A
c.820-1G>A (n.820-1G>A)
c.637-1G>A (n.637-1G>A)
 gnomAD v4
1g.77933281G>CCA340876473NEXNc.1054-1G>C (n.1054-1G>C)
c.862-1G>C (n.862-1G>C)
c.753-1G>C
c.1012-1G>C (n.1012-1G>C)
n.514-1G>C
n.627G>C
c.820-1G>C (n.820-1G>C)
c.637-1G>C (n.637-1G>C)
1g.77933281G>TCA340876475NEXNc.1054-1G>T (n.1054-1G>T)
c.862-1G>T (n.862-1G>T)
c.753-1G>T
c.1012-1G>T (n.1012-1G>T)
n.514-1G>T
n.627G>T
c.820-1G>T (n.820-1G>T)
c.637-1G>T (n.637-1G>T)
1g.77933282G>ACA340876476NEXNc.1054G>A (p.Val352Ile)
c.862G>A (p.Val288Ile)
c.753G>A
c.1012G>A (p.Val338Ile)
n.514G>A
n.628G>A
c.820G>A (p.Val274Ile)
c.637G>A (p.Val213Ile)
 gnomAD v4
1g.77933282G>CCA340876478NEXNc.1054G>C (p.Val352Leu)
c.862G>C (p.Val288Leu)
c.753G>C
c.1012G>C (p.Val338Leu)
n.514G>C
n.628G>C
c.820G>C (p.Val274Leu)
c.637G>C (p.Val213Leu)
1g.77933282G>TCA340876479NEXNc.1054G>T (p.Val352Leu)
c.862G>T (p.Val288Leu)
c.753G>T
c.1012G>T (p.Val338Leu)
n.514G>T
n.628G>T
c.820G>T (p.Val274Leu)
c.637G>T (p.Val213Leu)
1g.77933283T>ACA340876483NEXNc.1055T>A (p.Val352Glu)
c.863T>A (p.Val288Glu)
c.754T>A
c.1013T>A (p.Val338Glu)
n.515T>A
n.629T>A
c.821T>A (p.Val274Glu)
c.638T>A (p.Val213Glu)
 gnomAD v4
1g.77933283T>CCA24684063NEXNc.1055T>C (p.Val352Ala)
c.863T>C (p.Val288Ala)
c.754T>C
c.1013T>C (p.Val338Ala)
n.515T>C
n.629T>C
c.821T>C (p.Val274Ala)
c.638T>C (p.Val213Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77933283T>GCA340876481NEXNc.1055T>G (p.Val352Gly)
c.863T>G (p.Val288Gly)
c.754T>G
c.1013T>G (p.Val338Gly)
n.515T>G
n.629T>G
c.821T>G (p.Val274Gly)
c.638T>G (p.Val213Gly)
1g.77933283T=CA1177626656NEXNc.1055T= (p.Val352=)
c.863T= (p.Val288=)
c.754T=
c.1013T= (p.Val338=)
n.515T=
n.629T=
c.821T= (p.Val274=)
c.638T= (p.Val213=)
1g.77933284A>CCA418572031NEXNc.1056A>C (p.Val352=)
c.864A>C (p.Val288=)
c.755A>C
c.1014A>C (p.Val338=)
n.516A>C
n.630A>C
c.822A>C (p.Val274=)
c.639A>C (p.Val213=)
1g.77933284A>GCA418572032NEXNc.1056A>G (p.Val352=)
c.864A>G (p.Val288=)
c.755A>G
c.1014A>G (p.Val338=)
n.516A>G
n.630A>G
c.822A>G (p.Val274=)
c.639A>G (p.Val213=)
 gnomAD v4
1g.77933284A>TCA418572033NEXNc.1056A>T (p.Val352=)
c.864A>T (p.Val288=)
c.755A>T
c.1014A>T (p.Val338=)
n.516A>T
n.630A>T
c.822A>T (p.Val274=)
c.639A>T (p.Val213=)
1g.77933285G>ACA24684065NEXNc.1057G>A (p.Val353Ile)
c.865G>A (p.Val289Ile)
c.756G>A
c.1015G>A (p.Val339Ile)
n.517G>A
n.631G>A
c.823G>A (p.Val275Ile)
c.640G>A (p.Val214Ile)
 ClinVar dbSNP
1g.77933285G>CCA340876487NEXNc.1057G>C (p.Val353Leu)
c.865G>C (p.Val289Leu)
c.756G>C
c.1015G>C (p.Val339Leu)
n.517G>C
n.631G>C
c.823G>C (p.Val275Leu)
c.640G>C (p.Val214Leu)
1g.77933285G=CA1177626659NEXNc.1057G= (p.Val353=)
c.865G= (p.Val289=)
c.756G=
c.1015G= (p.Val339=)
n.517G=
n.631G=
c.823G= (p.Val275=)
c.640G= (p.Val214=)
1g.77933285G>TCA340876489NEXNc.1057G>T (p.Val353Leu)
c.865G>T (p.Val289Leu)
c.756G>T
c.1015G>T (p.Val339Leu)
n.517G>T
n.631G>T
c.823G>T (p.Val275Leu)
c.640G>T (p.Val214Leu)
1g.77933286T>ACA340876491NEXNc.1058T>A (p.Val353Glu)
c.866T>A (p.Val289Glu)
c.757T>A
c.1016T>A (p.Val339Glu)
n.518T>A
n.632T>A
c.824T>A (p.Val275Glu)
c.641T>A (p.Val214Glu)
1g.77933286T>CCA340876493NEXNc.1058T>C (p.Val353Ala)
c.866T>C (p.Val289Ala)
c.757T>C
c.1016T>C (p.Val339Ala)
n.518T>C
n.632T>C
c.824T>C (p.Val275Ala)
c.641T>C (p.Val214Ala)
 gnomAD v4
1g.77933286T>GCA340876495NEXNc.1058T>G (p.Val353Gly)
c.866T>G (p.Val289Gly)
c.757T>G
c.1016T>G (p.Val339Gly)
n.518T>G
n.632T>G
c.824T>G (p.Val275Gly)
c.641T>G (p.Val214Gly)
1g.77933286_77933292delinsTAGATGACA1177626662NEXNc.1058_1064delinsTAGATGA (p.Val353=)
c.866_872delinsTAGATGA (p.Val289=)
c.757_763delinsTAGATGA
c.1016_1022delinsTAGATGA (p.Val339=)
n.518_524delinsTAGATGA
n.632_638delinsTAGATGA
c.824_830delinsTAGATGA (p.Val275=)
c.641_647delinsTAGATGA (p.Val214=)
1g.77933287A>CCA418572034NEXNc.1059A>C (p.Val353=)
c.867A>C (p.Val289=)
c.758A>C
c.1017A>C (p.Val339=)
n.519A>C
n.633A>C
c.825A>C (p.Val275=)
c.642A>C (p.Val214=)
1g.77933287A>GCA418572035NEXNc.1059A>G (p.Val353=)
c.867A>G (p.Val289=)
c.758A>G
c.1017A>G (p.Val339=)
n.519A>G
n.633A>G
c.825A>G (p.Val275=)
c.642A>G (p.Val214=)
1g.77933287A>TCA418572036NEXNc.1059A>T (p.Val353=)
c.867A>T (p.Val289=)
c.758A>T
c.1017A>T (p.Val339=)
n.519A>T
n.633A>T
c.825A>T (p.Val275=)
c.642A>T (p.Val214=)
1g.77933287_77933292delCA524231365NEXNc.1059_1064del (p.Asp354_Asp355del)
c.867_872del (p.Asp290_Asp291del)
c.758_763del
c.1017_1022del (p.Asp340_Asp341del)
n.519_524del
n.633_638del
c.825_830del (p.Asp276_Asp277del)
c.642_647del (p.Asp215_Asp216del)
 dbSNP gnomAD v2 gnomAD v4
1g.77933288G>ACA340876499NEXNc.1060G>A (p.Asp354Asn)
c.868G>A (p.Asp290Asn)
c.759G>A
c.1018G>A (p.Asp340Asn)
n.520G>A
n.634G>A
c.826G>A (p.Asp276Asn)
c.643G>A (p.Asp215Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.77933288G>CCA340876500NEXNc.1060G>C (p.Asp354His)
c.868G>C (p.Asp290His)
c.759G>C
c.1018G>C (p.Asp340His)
n.520G>C
n.634G>C
c.826G>C (p.Asp276His)
c.643G>C (p.Asp215His)
 dbSNP
1g.77933288G=CA1177626664NEXNc.1060G= (p.Asp354=)
c.868G= (p.Asp290=)
c.759G=
c.1018G= (p.Asp340=)
n.520G=
n.634G=
c.826G= (p.Asp276=)
c.643G= (p.Asp215=)
1g.77933288G>TCA340876502NEXNc.1060G>T (p.Asp354Tyr)
c.868G>T (p.Asp290Tyr)
c.759G>T
c.1018G>T (p.Asp340Tyr)
n.520G>T
n.634G>T
c.826G>T (p.Asp276Tyr)
c.643G>T (p.Asp215Tyr)
1g.77933289A>CCA340876504NEXNc.1061A>C (p.Asp354Ala)
c.869A>C (p.Asp290Ala)
c.760A>C
c.1019A>C (p.Asp340Ala)
n.521A>C
n.635A>C
c.827A>C (p.Asp276Ala)
c.644A>C (p.Asp215Ala)
1g.77933289A>GCA340876507NEXNc.1061A>G (p.Asp354Gly)
c.869A>G (p.Asp290Gly)
c.760A>G
c.1019A>G (p.Asp340Gly)
n.521A>G
n.635A>G
c.827A>G (p.Asp276Gly)
c.644A>G (p.Asp215Gly)
1g.77933289A>TCA340876508NEXNc.1061A>T (p.Asp354Val)
c.869A>T (p.Asp290Val)
c.760A>T
c.1019A>T (p.Asp340Val)
n.521A>T
n.635A>T
c.827A>T (p.Asp276Val)
c.644A>T (p.Asp215Val)
1g.77933290T>ACA340876514NEXNc.1062T>A (p.Asp354Glu)
c.870T>A (p.Asp290Glu)
c.761T>A
c.1020T>A (p.Asp340Glu)
n.522T>A
n.636T>A
c.828T>A (p.Asp276Glu)
c.645T>A (p.Asp215Glu)
1g.77933290T>CCA418572037NEXNc.1062T>C (p.Asp354=)
c.870T>C (p.Asp290=)
c.761T>C
c.1020T>C (p.Asp340=)
n.522T>C
n.636T>C
c.828T>C (p.Asp276=)
c.645T>C (p.Asp215=)
1g.77933290T>GCA340876516NEXNc.1062T>G (p.Asp354Glu)
c.870T>G (p.Asp290Glu)
c.761T>G
c.1020T>G (p.Asp340Glu)
n.522T>G
n.636T>G
c.828T>G (p.Asp276Glu)
c.645T>G (p.Asp215Glu)
1g.77933291G>ACA340876519NEXNc.1063G>A (p.Asp355Asn)
c.871G>A (p.Asp291Asn)
c.762G>A
c.1021G>A (p.Asp341Asn)
n.523G>A
n.637G>A
c.829G>A (p.Asp277Asn)
c.646G>A (p.Asp216Asn)
1g.77933291G>CCA340876521NEXNc.1063G>C (p.Asp355His)
c.871G>C (p.Asp291His)
c.762G>C
c.1021G>C (p.Asp341His)
n.523G>C
n.637G>C
c.829G>C (p.Asp277His)
c.646G>C (p.Asp216His)
 ClinVar dbSNP gnomAD v4
1g.77933291G=CA1177626666NEXNc.1063G= (p.Asp355=)
c.871G= (p.Asp291=)
c.762G=
c.1021G= (p.Asp341=)
n.523G=
n.637G=
c.829G= (p.Asp277=)
c.646G= (p.Asp216=)
1g.77933291G>TCA340876518NEXNc.1063G>T (p.Asp355Tyr)
c.871G>T (p.Asp291Tyr)
c.762G>T
c.1021G>T (p.Asp341Tyr)
n.523G>T
n.637G>T
c.829G>T (p.Asp277Tyr)
c.646G>T (p.Asp216Tyr)
 gnomAD v4
1g.77933291_77933299dupCA2646274518NEXNc.1063_1071dup (p.Ser357_Pro358insAspAspSer)
c.871_879dup (p.Ser293_Pro294insAspAspSer)
c.762_770dup
c.1021_1029dup (p.Ser343_Pro344insAspAspSer)
n.523_531dup
n.637_645dup
c.829_837dup (p.Ser279_Pro280insAspAspSer)
c.646_654dup (p.Ser218_Pro219insAspAspSer)
 gnomAD v4
1g.77933292A=CA1177626669NEXNc.1064A= (p.Asp355=)
c.872A= (p.Asp291=)
c.763A=
c.1022A= (p.Asp341=)
n.524A=
n.638A=
c.830A= (p.Asp277=)
c.647A= (p.Asp216=)
1g.77933292A>CCA340876523NEXNc.1064A>C (p.Asp355Ala)
c.872A>C (p.Asp291Ala)
c.763A>C
c.1022A>C (p.Asp341Ala)
n.524A>C
n.638A>C
c.830A>C (p.Asp277Ala)
c.647A>C (p.Asp216Ala)
 dbSNP
1g.77933292A>GCA340876525NEXNc.1064A>G (p.Asp355Gly)
c.872A>G (p.Asp291Gly)
c.763A>G
c.1022A>G (p.Asp341Gly)
n.524A>G
n.638A>G
c.830A>G (p.Asp277Gly)
c.647A>G (p.Asp216Gly)
 ClinVar
1g.77933292A>TCA340876528NEXNc.1064A>T (p.Asp355Val)
c.872A>T (p.Asp291Val)
c.763A>T
c.1022A>T (p.Asp341Val)
n.524A>T
n.638A>T
c.830A>T (p.Asp277Val)
c.647A>T (p.Asp216Val)
1g.77933293T>ACA340876531NEXNc.1065T>A (p.Asp355Glu)
c.873T>A (p.Asp291Glu)
c.764T>A
c.1023T>A (p.Asp341Glu)
n.525T>A
n.639T>A
c.831T>A (p.Asp277Glu)
c.648T>A (p.Asp216Glu)
1g.77933293T>CCA177488NEXNc.1065T>C (p.Asp355=)
c.873T>C (p.Asp291=)
c.764T>C
c.1023T>C (p.Asp341=)
n.525T>C
n.639T>C
c.831T>C (p.Asp277=)
c.648T>C (p.Asp216=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933293T>GCA340876535NEXNc.1065T>G (p.Asp355Glu)
c.873T>G (p.Asp291Glu)
c.764T>G
c.1023T>G (p.Asp341Glu)
n.525T>G
n.639T>G
c.831T>G (p.Asp277Glu)
c.648T>G (p.Asp216Glu)
1g.77933293T=CA1143694066NEXNc.1065T= (p.Asp355=)
c.873T= (p.Asp291=)
c.764T=
c.1023T= (p.Asp341=)
n.525T=
n.639T=
c.831T= (p.Asp277=)
c.648T= (p.Asp216=)
1g.77933294G>ACA340876537NEXNc.1066G>A (p.Asp356Asn)
c.874G>A (p.Asp292Asn)
c.765G>A
c.1024G>A (p.Asp342Asn)
n.526G>A
n.640G>A
c.832G>A (p.Asp278Asn)
c.649G>A (p.Asp217Asn)
 COSMIC COSMIC
1g.77933294G>CCA340876539NEXNc.1066G>C (p.Asp356His)
c.874G>C (p.Asp292His)
c.765G>C
c.1024G>C (p.Asp342His)
n.526G>C
n.640G>C
c.832G>C (p.Asp278His)
c.649G>C (p.Asp217His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933294G=CA1177626673NEXNc.1066G= (p.Asp356=)
c.874G= (p.Asp292=)
c.765G=
c.1024G= (p.Asp342=)
n.526G=
n.640G=
c.832G= (p.Asp278=)
c.649G= (p.Asp217=)
1g.77933294G>TCA340876541NEXNc.1066G>T (p.Asp356Tyr)
c.874G>T (p.Asp292Tyr)
c.765G>T
c.1024G>T (p.Asp342Tyr)
n.526G>T
n.640G>T
c.832G>T (p.Asp278Tyr)
c.649G>T (p.Asp217Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.77933295A>CCA340876544NEXNc.1067A>C (p.Asp356Ala)
c.875A>C (p.Asp292Ala)
c.766A>C
c.1025A>C (p.Asp342Ala)
n.527A>C
n.641A>C
c.833A>C (p.Asp278Ala)
c.650A>C (p.Asp217Ala)
1g.77933295A>GCA340876546NEXNc.1067A>G (p.Asp356Gly)
c.875A>G (p.Asp292Gly)
c.766A>G
c.1025A>G (p.Asp342Gly)
n.527A>G
n.641A>G
c.833A>G (p.Asp278Gly)
c.650A>G (p.Asp217Gly)
1g.77933295A>TCA340876548NEXNc.1067A>T (p.Asp356Val)
c.875A>T (p.Asp292Val)
c.766A>T
c.1025A>T (p.Asp342Val)
n.527A>T
n.641A>T
c.833A>T (p.Asp278Val)
c.650A>T (p.Asp217Val)
1g.77933296C>ACA340876551NEXNc.1068C>A (p.Asp356Glu)
c.876C>A (p.Asp292Glu)
c.767C>A
c.1026C>A (p.Asp342Glu)
n.528C>A
n.642C>A
c.834C>A (p.Asp278Glu)
c.651C>A (p.Asp217Glu)
 gnomAD v4
1g.77933296C=CA1177626675NEXNc.1068C= (p.Asp356=)
c.876C= (p.Asp292=)
c.767C=
c.1026C= (p.Asp342=)
n.528C=
n.642C=
c.834C= (p.Asp278=)
c.651C= (p.Asp217=)
1g.77933296C>GCA340876549NEXNc.1068C>G (p.Asp356Glu)
c.876C>G (p.Asp292Glu)
c.767C>G
c.1026C>G (p.Asp342Glu)
n.528C>G
n.642C>G
c.834C>G (p.Asp278Glu)
c.651C>G (p.Asp217Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.77933296C>TCA418572038NEXNc.1068C>T (p.Asp356=)
c.876C>T (p.Asp292=)
c.767C>T
c.1026C>T (p.Asp342=)
n.528C>T
n.642C>T
c.834C>T (p.Asp278=)
c.651C>T (p.Asp217=)
1g.77933297T>ACA340876553NEXNc.1069T>A (p.Ser357Thr)
c.877T>A (p.Ser293Thr)
c.768T>A
c.1027T>A (p.Ser343Thr)
n.529T>A
n.643T>A
c.835T>A (p.Ser279Thr)
c.652T>A (p.Ser218Thr)
1g.77933297T>CCA340876557NEXNc.1069T>C (p.Ser357Pro)
c.877T>C (p.Ser293Pro)
c.768T>C
c.1027T>C (p.Ser343Pro)
n.529T>C
n.643T>C
c.835T>C (p.Ser279Pro)
c.652T>C (p.Ser218Pro)
 COSMIC COSMIC
1g.77933297T>GCA340876558NEXNc.1069T>G (p.Ser357Ala)
c.877T>G (p.Ser293Ala)
c.768T>G
c.1027T>G (p.Ser343Ala)
n.529T>G
n.643T>G
c.835T>G (p.Ser279Ala)
c.652T>G (p.Ser218Ala)
1g.77933298C>ACA340876561NEXNc.1070C>A (p.Ser357Tyr)
c.878C>A (p.Ser293Tyr)
c.769C>A
c.1028C>A (p.Ser343Tyr)
n.530C>A
n.644C>A
c.836C>A (p.Ser279Tyr)
c.653C>A (p.Ser218Tyr)
 gnomAD v4
1g.77933298C=CA1177626676NEXNc.1070C= (p.Ser357=)
c.878C= (p.Ser293=)
c.769C=
c.1028C= (p.Ser343=)
n.530C=
n.644C=
c.836C= (p.Ser279=)
c.653C= (p.Ser218=)
1g.77933298C>GCA340876563NEXNc.1070C>G (p.Ser357Cys)
c.878C>G (p.Ser293Cys)
c.769C>G
c.1028C>G (p.Ser343Cys)
n.530C>G
n.644C>G
c.836C>G (p.Ser279Cys)
c.653C>G (p.Ser218Cys)
1g.77933298C>TCA918800NEXNc.1070C>T (p.Ser357Phe)
c.878C>T (p.Ser293Phe)
c.769C>T
c.1028C>T (p.Ser343Phe)
n.530C>T
n.644C>T
c.836C>T (p.Ser279Phe)
c.653C>T (p.Ser218Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933299C>ACA418572039NEXNc.1071C>A (p.Ser357=)
c.879C>A (p.Ser293=)
c.770C>A
c.1029C>A (p.Ser343=)
n.531C>A
n.645C>A
c.837C>A (p.Ser279=)
c.654C>A (p.Ser218=)
1g.77933299C=CA1177626678NEXNc.1071C= (p.Ser357=)
c.879C= (p.Ser293=)
c.770C=
c.1029C= (p.Ser343=)
n.531C=
n.645C=
c.837C= (p.Ser279=)
c.654C= (p.Ser218=)
1g.77933299C>GCA418572040NEXNc.1071C>G (p.Ser357=)
c.879C>G (p.Ser293=)
c.770C>G
c.1029C>G (p.Ser343=)
n.531C>G
n.645C>G
c.837C>G (p.Ser279=)
c.654C>G (p.Ser218=)
1g.77933299C>TCA418572041NEXNc.1071C>T (p.Ser357=)
c.879C>T (p.Ser293=)
c.770C>T
c.1029C>T (p.Ser343=)
n.531C>T
n.645C>T
c.837C>T (p.Ser279=)
c.654C>T (p.Ser218=)
1g.77933299_77933300insTTTCA24684091NEXNc.1071_1072insTTT (p.Ser357_Pro358insPhe)
c.879_880insTTT (p.Ser293_Pro294insPhe)
c.770_771insTTT
c.1029_1030insTTT (p.Ser343_Pro344insPhe)
n.531_532insTTT
n.645_646insTTT
c.837_838insTTT (p.Ser279_Pro280insPhe)
c.654_655insTTT (p.Ser218_Pro219insPhe)
 dbSNP
1g.77933300C>ACA340876565NEXNc.1072C>A (p.Pro358Thr)
c.880C>A (p.Pro294Thr)
c.771C>A
c.1030C>A (p.Pro344Thr)
n.532C>A
n.646C>A
c.838C>A (p.Pro280Thr)
c.655C>A (p.Pro219Thr)
1g.77933300C=CA1177626680NEXNc.1072C= (p.Pro358=)
c.880C= (p.Pro294=)
c.771C=
c.1030C= (p.Pro344=)
n.532C=
n.646C=
c.838C= (p.Pro280=)
c.655C= (p.Pro219=)
1g.77933300C>GCA340876566NEXNc.1072C>G (p.Pro358Ala)
c.880C>G (p.Pro294Ala)
c.771C>G
c.1030C>G (p.Pro344Ala)
n.532C>G
n.646C>G
c.838C>G (p.Pro280Ala)
c.655C>G (p.Pro219Ala)
1g.77933300C>TCA24684103NEXNc.1072C>T (p.Pro358Ser)
c.880C>T (p.Pro294Ser)
c.771C>T
c.1030C>T (p.Pro344Ser)
n.532C>T
n.646C>T
c.838C>T (p.Pro280Ser)
c.655C>T (p.Pro219Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77933301C>ACA340876569NEXNc.1073C>A (p.Pro358Gln)
c.881C>A (p.Pro294Gln)
c.772C>A
c.1031C>A (p.Pro344Gln)
n.533C>A
n.647C>A
c.839C>A (p.Pro280Gln)
c.656C>A (p.Pro219Gln)
1g.77933301C=CA1177626682NEXNc.1073C= (p.Pro358=)
c.881C= (p.Pro294=)
c.772C=
c.1031C= (p.Pro344=)
n.533C=
n.647C=
c.839C= (p.Pro280=)
c.656C= (p.Pro219=)
1g.77933301C>GCA340876571NEXNc.1073C>G (p.Pro358Arg)
c.881C>G (p.Pro294Arg)
c.772C>G
c.1031C>G (p.Pro344Arg)
n.533C>G
n.647C>G
c.839C>G (p.Pro280Arg)
c.656C>G (p.Pro219Arg)
1g.77933301C>TCA918801NEXNc.1073C>T (p.Pro358Leu)
c.881C>T (p.Pro294Leu)
c.772C>T
c.1031C>T (p.Pro344Leu)
n.533C>T
n.647C>T
c.839C>T (p.Pro280Leu)
c.656C>T (p.Pro219Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933302A>CCA418572042NEXNc.1074A>C (p.Pro358=)
c.882A>C (p.Pro294=)
c.773A>C
c.1032A>C (p.Pro344=)
n.534A>C
n.648A>C
c.840A>C (p.Pro280=)
c.657A>C (p.Pro219=)
1g.77933302A>GCA418572043NEXNc.1074A>G (p.Pro358=)
c.882A>G (p.Pro294=)
c.773A>G
c.1032A>G (p.Pro344=)
n.534A>G
n.648A>G
c.840A>G (p.Pro280=)
c.657A>G (p.Pro219=)
1g.77933302A>TCA418572044NEXNc.1074A>T (p.Pro358=)
c.882A>T (p.Pro294=)
c.773A>T
c.1032A>T (p.Pro344=)
n.534A>T
n.648A>T
c.840A>T (p.Pro280=)
c.657A>T (p.Pro219=)
1g.77933303G>ACA340876579NEXNc.1075G>A (p.Glu359Lys)
c.883G>A (p.Glu295Lys)
c.774G>A
c.1033G>A (p.Glu345Lys)
n.535G>A
n.649G>A
c.841G>A (p.Glu281Lys)
c.658G>A (p.Glu220Lys)
1g.77933303G>CCA340876581NEXNc.1075G>C (p.Glu359Gln)
c.883G>C (p.Glu295Gln)
c.774G>C
c.1033G>C (p.Glu345Gln)
n.535G>C
n.649G>C
c.841G>C (p.Glu281Gln)
c.658G>C (p.Glu220Gln)
1g.77933303G>TCA340876577NEXNc.1075G>T (p.Glu359Ter)
c.883G>T (p.Glu295Ter)
c.774G>T
c.1033G>T (p.Glu345Ter)
n.535G>T
n.649G>T
c.841G>T (p.Glu281Ter)
c.658G>T (p.Glu220Ter)
1g.77933304A>CCA340876583NEXNc.1076A>C (p.Glu359Ala)
c.884A>C (p.Glu295Ala)
c.775A>C
c.1034A>C (p.Glu345Ala)
n.536A>C
n.650A>C
c.842A>C (p.Glu281Ala)
c.659A>C (p.Glu220Ala)
1g.77933304A>GCA340876582NEXNc.1076A>G (p.Glu359Gly)
c.884A>G (p.Glu295Gly)
c.775A>G
c.1034A>G (p.Glu345Gly)
n.536A>G
n.650A>G
c.842A>G (p.Glu281Gly)
c.659A>G (p.Glu220Gly)
1g.77933304A>TCA340876585NEXNc.1076A>T (p.Glu359Val)
c.884A>T (p.Glu295Val)
c.775A>T
c.1034A>T (p.Glu345Val)
n.536A>T
n.650A>T
c.842A>T (p.Glu281Val)
c.659A>T (p.Glu220Val)
1g.77933305G>ACA418572045NEXNc.1077G>A (p.Glu359=)
c.885G>A (p.Glu295=)
c.776G>A
c.1035G>A (p.Glu345=)
n.537G>A
n.651G>A
c.843G>A (p.Glu281=)
c.660G>A (p.Glu220=)
1g.77933305G>CCA340876587NEXNc.1077G>C (p.Glu359Asp)
c.885G>C (p.Glu295Asp)
c.776G>C
c.1035G>C (p.Glu345Asp)
n.537G>C
n.651G>C
c.843G>C (p.Glu281Asp)
c.660G>C (p.Glu220Asp)
1g.77933305G=CA1177626683NEXNc.1077G= (p.Glu359=)
c.885G= (p.Glu295=)
c.776G=
c.1035G= (p.Glu345=)
n.537G=
n.651G=
c.843G= (p.Glu281=)
c.660G= (p.Glu220=)
1g.77933305G>TCA340876589NEXNc.1077G>T (p.Glu359Asp)
c.885G>T (p.Glu295Asp)
c.776G>T
c.1035G>T (p.Glu345Asp)
n.537G>T
n.651G>T
c.843G>T (p.Glu281Asp)
c.660G>T (p.Glu220Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.77933306A>CCA340876590NEXNc.1078A>C (p.Met360Leu)
c.886A>C (p.Met296Leu)
c.777A>C
c.1036A>C (p.Met346Leu)
n.538A>C
n.652A>C
c.844A>C (p.Met282Leu)
c.661A>C (p.Met221Leu)
1g.77933306A>GCA340876591NEXNc.1078A>G (p.Met360Val)
c.886A>G (p.Met296Val)
c.777A>G
c.1036A>G (p.Met346Val)
n.538A>G
n.652A>G
c.844A>G (p.Met282Val)
c.661A>G (p.Met221Val)
 gnomAD v4
1g.77933306A>TCA340876593NEXNc.1078A>T (p.Met360Leu)
c.886A>T (p.Met296Leu)
c.777A>T
c.1036A>T (p.Met346Leu)
n.538A>T
n.652A>T
c.844A>T (p.Met282Leu)
c.661A>T (p.Met221Leu)
 gnomAD v4
1g.77933307T>ACA340876594NEXNc.1079T>A (p.Met360Lys)
c.887T>A (p.Met296Lys)
c.778T>A
c.1037T>A (p.Met346Lys)
n.539T>A
n.653T>A
c.845T>A (p.Met282Lys)
c.662T>A (p.Met221Lys)
1g.77933307T>CCA340876596NEXNc.1079T>C (p.Met360Thr)
c.887T>C (p.Met296Thr)
c.778T>C
c.1037T>C (p.Met346Thr)
n.539T>C
n.653T>C
c.845T>C (p.Met282Thr)
c.662T>C (p.Met221Thr)
 gnomAD v4
1g.77933307T>GCA340876598NEXNc.1079T>G (p.Met360Arg)
c.887T>G (p.Met296Arg)
c.778T>G
c.1037T>G (p.Met346Arg)
n.539T>G
n.653T>G
c.845T>G (p.Met282Arg)
c.662T>G (p.Met221Arg)
1g.77933308G>ACA340876599NEXNc.1080G>A (p.Met360Ile)
c.888G>A (p.Met296Ile)
c.779G>A
c.1038G>A (p.Met346Ile)
n.540G>A
n.654G>A
c.846G>A (p.Met282Ile)
c.663G>A (p.Met221Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.77933308G>CCA340876600NEXNc.1080G>C (p.Met360Ile)
c.888G>C (p.Met296Ile)
c.779G>C
c.1038G>C (p.Met346Ile)
n.540G>C
n.654G>C
c.846G>C (p.Met282Ile)
c.663G>C (p.Met221Ile)
1g.77933308G=CA1177626685NEXNc.1080G= (p.Met360=)
c.888G= (p.Met296=)
c.779G=
c.1038G= (p.Met346=)
n.540G=
n.654G=
c.846G= (p.Met282=)
c.663G= (p.Met221=)
1g.77933308G>TCA340876601NEXNc.1080G>T (p.Met360Ile)
c.888G>T (p.Met296Ile)
c.779G>T
c.1038G>T (p.Met346Ile)
n.540G>T
n.654G>T
c.846G>T (p.Met282Ile)
c.663G>T (p.Met221Ile)
1g.77933309T>ACA340876602NEXNc.1081T>A (p.Tyr361Asn)
c.889T>A (p.Tyr297Asn)
c.780T>A
c.1039T>A (p.Tyr347Asn)
n.541T>A
n.655T>A
c.847T>A (p.Tyr283Asn)
c.664T>A (p.Tyr222Asn)
1g.77933309T>CCA340876603NEXNc.1081T>C (p.Tyr361His)
c.889T>C (p.Tyr297His)
c.780T>C
c.1039T>C (p.Tyr347His)
n.541T>C
n.655T>C
c.847T>C (p.Tyr283His)
c.664T>C (p.Tyr222His)
1g.77933309T>GCA340876604NEXNc.1081T>G (p.Tyr361Asp)
c.889T>G (p.Tyr297Asp)
c.780T>G
c.1039T>G (p.Tyr347Asp)
n.541T>G
n.655T>G
c.847T>G (p.Tyr283Asp)
c.664T>G (p.Tyr222Asp)
1g.77933310A=CA1145347785NEXNc.1082A= (p.Tyr361=)
c.890A= (p.Tyr297=)
c.781A=
c.1040A= (p.Tyr347=)
n.542A=
n.656A=
c.848A= (p.Tyr283=)
c.665A= (p.Tyr222=)
1g.77933310A>CCA340876605NEXNc.1082A>C (p.Tyr361Ser)
c.890A>C (p.Tyr297Ser)
c.781A>C
c.1040A>C (p.Tyr347Ser)
n.542A>C
n.656A>C
c.848A>C (p.Tyr283Ser)
c.665A>C (p.Tyr222Ser)
1g.77933310A>GCA24684109NEXNc.1082A>G (p.Tyr361Cys)
c.890A>G (p.Tyr297Cys)
c.781A>G
c.1040A>G (p.Tyr347Cys)
n.542A>G
n.656A>G
c.848A>G (p.Tyr283Cys)
c.665A>G (p.Tyr222Cys)
 dbSNP gnomAD v4
1g.77933310A>TCA340876606NEXNc.1082A>T (p.Tyr361Phe)
c.890A>T (p.Tyr297Phe)
c.781A>T
c.1040A>T (p.Tyr347Phe)
n.542A>T
n.656A>T
c.848A>T (p.Tyr283Phe)
c.665A>T (p.Tyr222Phe)
1g.77933311T>ACA340876608NEXNc.1083T>A (p.Tyr361Ter)
c.891T>A (p.Tyr297Ter)
c.782T>A
c.1041T>A (p.Tyr347Ter)
n.543T>A
n.657T>A
c.849T>A (p.Tyr283Ter)
c.666T>A (p.Tyr222Ter)
1g.77933311T>CCA16610154NEXNc.1083T>C (p.Tyr361=)
c.891T>C (p.Tyr297=)
c.782T>C
c.1041T>C (p.Tyr347=)
n.543T>C
n.657T>C
c.849T>C (p.Tyr283=)
c.666T>C (p.Tyr222=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77933311T>GCA340876611NEXNc.1083T>G (p.Tyr361Ter)
c.891T>G (p.Tyr297Ter)
c.782T>G
c.1041T>G (p.Tyr347Ter)
n.543T>G
n.657T>G
c.849T>G (p.Tyr283Ter)
c.666T>G (p.Tyr222Ter)
1g.77933311T=CA1177626687NEXNc.1083T= (p.Tyr361=)
c.891T= (p.Tyr297=)
c.782T=
c.1041T= (p.Tyr347=)
n.543T=
n.657T=
c.849T= (p.Tyr283=)
c.666T= (p.Tyr222=)
1g.77933312A=CA1177626688NEXNc.1084A= (p.Lys362=)
c.892A= (p.Lys298=)
c.783A=
c.1042A= (p.Lys348=)
n.544A=
n.658A=
c.850A= (p.Lys284=)
c.667A= (p.Lys223=)
1g.77933312A>CCA918802NEXNc.1084A>C (p.Lys362Gln)
c.892A>C (p.Lys298Gln)
c.783A>C
c.1042A>C (p.Lys348Gln)
n.544A>C
n.658A>C
c.850A>C (p.Lys284Gln)
c.667A>C (p.Lys223Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933312A>GCA340876613NEXNc.1084A>G (p.Lys362Glu)
c.892A>G (p.Lys298Glu)
c.783A>G
c.1042A>G (p.Lys348Glu)
n.544A>G
n.658A>G
c.850A>G (p.Lys284Glu)
c.667A>G (p.Lys223Glu)
1g.77933312A>TCA340876615NEXNc.1084A>T (p.Lys362Ter)
c.892A>T (p.Lys298Ter)
c.783A>T
c.1042A>T (p.Lys348Ter)
n.544A>T
n.658A>T
c.850A>T (p.Lys284Ter)
c.667A>T (p.Lys223Ter)
 ClinVar
1g.77933313delCA2574414088NEXNc.1085del (p.Lys362ArgfsTer21)
c.893del (p.Lys298ArgfsTer21)
c.784del
c.1043del (p.Lys348ArgfsTer21)
n.545del
n.659del
c.851del (p.Lys284ArgfsTer21)
c.668del (p.Lys223ArgfsTer21)
1g.77933313A>CCA340876625NEXNc.1085A>C (p.Lys362Thr)
c.893A>C (p.Lys298Thr)
c.784A>C
c.1043A>C (p.Lys348Thr)
n.545A>C
n.659A>C
c.851A>C (p.Lys284Thr)
c.668A>C (p.Lys223Thr)
1g.77933313A>GCA340876626NEXNc.1085A>G (p.Lys362Arg)
c.893A>G (p.Lys298Arg)
c.784A>G
c.1043A>G (p.Lys348Arg)
n.545A>G
n.659A>G
c.851A>G (p.Lys284Arg)
c.668A>G (p.Lys223Arg)
1g.77933313A>TCA340876628NEXNc.1085A>T (p.Lys362Met)
c.893A>T (p.Lys298Met)
c.784A>T
c.1043A>T (p.Lys348Met)
n.545A>T
n.659A>T
c.851A>T (p.Lys284Met)
c.668A>T (p.Lys223Met)
1g.77933314G>ACA418572046NEXNc.1086G>A (p.Lys362=)
c.894G>A (p.Lys298=)
c.785G>A
c.1044G>A (p.Lys348=)
n.546G>A
n.660G>A
c.852G>A (p.Lys284=)
c.669G>A (p.Lys223=)
1g.77933314G>CCA340876631NEXNc.1086G>C (p.Lys362Asn)
c.894G>C (p.Lys298Asn)
c.785G>C
c.1044G>C (p.Lys348Asn)
n.546G>C
n.660G>C
c.852G>C (p.Lys284Asn)
c.669G>C (p.Lys223Asn)
1g.77933314G>TCA340876632NEXNc.1086G>T (p.Lys362Asn)
c.894G>T (p.Lys298Asn)
c.785G>T
c.1044G>T (p.Lys348Asn)
n.546G>T
n.660G>T
c.852G>T (p.Lys284Asn)
c.669G>T (p.Lys223Asn)
 gnomAD v4
1g.77933315A>CCA340876636NEXNc.1087A>C (p.Thr363Pro)
c.895A>C (p.Thr299Pro)
c.786A>C
c.1045A>C (p.Thr349Pro)
n.547A>C
n.661A>C
c.853A>C (p.Thr285Pro)
c.670A>C (p.Thr224Pro)
1g.77933315A>GCA340876638NEXNc.1087A>G (p.Thr363Ala)
c.895A>G (p.Thr299Ala)
c.786A>G
c.1045A>G (p.Thr349Ala)
n.547A>G
n.661A>G
c.853A>G (p.Thr285Ala)
c.670A>G (p.Thr224Ala)
1g.77933315A>TCA340876634NEXNc.1087A>T (p.Thr363Ser)
c.895A>T (p.Thr299Ser)
c.786A>T
c.1045A>T (p.Thr349Ser)
n.547A>T
n.661A>T
c.853A>T (p.Thr285Ser)
c.670A>T (p.Thr224Ser)
1g.77933316C>ACA340876639NEXNc.1088C>A (p.Thr363Lys)
c.896C>A (p.Thr299Lys)
c.787C>A
c.1046C>A (p.Thr349Lys)
n.548C>A
n.662C>A
c.854C>A (p.Thr285Lys)
c.671C>A (p.Thr224Lys)
1g.77933316C=CA1148876825NEXNc.1088C= (p.Thr363=)
c.896C= (p.Thr299=)
c.787C=
c.1046C= (p.Thr349=)
n.548C=
n.662C=
c.854C= (p.Thr285=)
c.671C= (p.Thr224=)
1g.77933316C>GCA918803NEXNc.1088C>G (p.Thr363Arg)
c.896C>G (p.Thr299Arg)
c.787C>G
c.1046C>G (p.Thr349Arg)
n.548C>G
n.662C>G
c.854C>G (p.Thr285Arg)
c.671C>G (p.Thr224Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933316C>TCA340876642NEXNc.1088C>T (p.Thr363Ile)
c.896C>T (p.Thr299Ile)
c.787C>T
c.1046C>T (p.Thr349Ile)
n.548C>T
n.662C>T
c.854C>T (p.Thr285Ile)
c.671C>T (p.Thr224Ile)
 ClinVar dbSNP
1g.77933317A=CA1177626692NEXNc.1089A= (p.Thr363=)
c.897A= (p.Thr299=)
c.788A=
c.1047A= (p.Thr349=)
n.549A=
n.663A=
c.855A= (p.Thr285=)
c.672A= (p.Thr224=)
1g.77933317A>CCA10581817NEXNc.1089A>C (p.Thr363=)
c.897A>C (p.Thr299=)
c.788A>C
c.1047A>C (p.Thr349=)
n.549A>C
n.663A>C
c.855A>C (p.Thr285=)
c.672A>C (p.Thr224=)
 ClinVar dbSNP gnomAD v4
1g.77933317A>GCA418572048NEXNc.1089A>G (p.Thr363=)
c.897A>G (p.Thr299=)
c.788A>G
c.1047A>G (p.Thr349=)
n.549A>G
n.663A>G
c.855A>G (p.Thr285=)
c.672A>G (p.Thr224=)
1g.77933317A>TCA418572047NEXNc.1089A>T (p.Thr363=)
c.897A>T (p.Thr299=)
c.788A>T
c.1047A>T (p.Thr349=)
n.549A>T
n.663A>T
c.855A>T (p.Thr285=)
c.672A>T (p.Thr224=)
1g.77933318A>CCA340876646NEXNc.1090A>C (p.Ile364Leu)
c.898A>C (p.Ile300Leu)
c.789A>C
c.1048A>C (p.Ile350Leu)
n.550A>C
n.664A>C
c.856A>C (p.Ile286Leu)
c.673A>C (p.Ile225Leu)
1g.77933318A>GCA340876648NEXNc.1090A>G (p.Ile364Val)
c.898A>G (p.Ile300Val)
c.789A>G
c.1048A>G (p.Ile350Val)
n.550A>G
n.664A>G
c.856A>G (p.Ile286Val)
c.673A>G (p.Ile225Val)
 gnomAD v4
1g.77933318A>TCA340876652NEXNc.1090A>T (p.Ile364Phe)
c.898A>T (p.Ile300Phe)
c.789A>T
c.1048A>T (p.Ile350Phe)
n.550A>T
n.664A>T
c.856A>T (p.Ile286Phe)
c.673A>T (p.Ile225Phe)
1g.77933319T>ACA340876655NEXNc.1091T>A (p.Ile364Asn)
c.899T>A (p.Ile300Asn)
c.790T>A
c.1049T>A (p.Ile350Asn)
n.551T>A
n.665T>A
c.857T>A (p.Ile286Asn)
c.674T>A (p.Ile225Asn)
 gnomAD v4
1g.77933319T>CCA340876659NEXNc.1091T>C (p.Ile364Thr)
c.899T>C (p.Ile300Thr)
c.790T>C
c.1049T>C (p.Ile350Thr)
n.551T>C
n.665T>C
c.857T>C (p.Ile286Thr)
c.674T>C (p.Ile225Thr)
 gnomAD v4
1g.77933319T>GCA340876657NEXNc.1091T>G (p.Ile364Ser)
c.899T>G (p.Ile300Ser)
c.790T>G
c.1049T>G (p.Ile350Ser)
n.551T>G
n.665T>G
c.857T>G (p.Ile286Ser)
c.674T>G (p.Ile225Ser)
1g.77933320C>ACA418572049NEXNc.1092C>A (p.Ile364=)
c.900C>A (p.Ile300=)
c.791C>A
c.1050C>A (p.Ile350=)
n.552C>A
n.666C>A
c.858C>A (p.Ile286=)
c.675C>A (p.Ile225=)
 dbSNP gnomAD v3 gnomAD v4
1g.77933320C=CA1177626696NEXNc.1092C= (p.Ile364=)
c.900C= (p.Ile300=)
c.791C=
c.1050C= (p.Ile350=)
n.552C=
n.666C=
c.858C= (p.Ile286=)
c.675C= (p.Ile225=)
1g.77933320C>GCA340876660NEXNc.1092C>G (p.Ile364Met)
c.900C>G (p.Ile300Met)
c.791C>G
c.1050C>G (p.Ile350Met)
n.552C>G
n.666C>G
c.858C>G (p.Ile286Met)
c.675C>G (p.Ile225Met)
1g.77933320C>TCA418572050NEXNc.1092C>T (p.Ile364=)
c.900C>T (p.Ile300=)
c.791C>T
c.1050C>T (p.Ile350=)
n.552C>T
n.666C>T
c.858C>T (p.Ile286=)
c.675C>T (p.Ile225=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933321T>ACA340876661NEXNc.1093T>A (p.Ser365Thr)
c.901T>A (p.Ser301Thr)
c.792T>A
c.1051T>A (p.Ser351Thr)
n.553T>A
n.667T>A
c.859T>A (p.Ser287Thr)
c.676T>A (p.Ser226Thr)
1g.77933321T>CCA340876662NEXNc.1093T>C (p.Ser365Pro)
c.901T>C (p.Ser301Pro)
c.792T>C
c.1051T>C (p.Ser351Pro)
n.553T>C
n.667T>C
c.859T>C (p.Ser287Pro)
c.676T>C (p.Ser226Pro)
1g.77933321T>GCA340876663NEXNc.1093T>G (p.Ser365Ala)
c.901T>G (p.Ser301Ala)
c.792T>G
c.1051T>G (p.Ser351Ala)
n.553T>G
n.667T>G
c.859T>G (p.Ser287Ala)
c.676T>G (p.Ser226Ala)
1g.77933322C>ACA340876664NEXNc.1094C>A (p.Ser365Tyr)
c.902C>A (p.Ser301Tyr)
c.793C>A
c.1052C>A (p.Ser351Tyr)
n.554C>A
n.668C>A
c.860C>A (p.Ser287Tyr)
c.677C>A (p.Ser226Tyr)
1g.77933322C=CA1177626698NEXNc.1094C= (p.Ser365=)
c.902C= (p.Ser301=)
c.793C=
c.1052C= (p.Ser351=)
n.554C=
n.668C=
c.860C= (p.Ser287=)
c.677C= (p.Ser226=)
1g.77933322C>GCA335406NEXNc.1094C>G (p.Ser365Cys)
c.902C>G (p.Ser301Cys)
c.793C>G
c.1052C>G (p.Ser351Cys)
n.554C>G
n.668C>G
c.860C>G (p.Ser287Cys)
c.677C>G (p.Ser226Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933322C>TCA340876665NEXNc.1094C>T (p.Ser365Phe)
c.902C>T (p.Ser301Phe)
c.793C>T
c.1052C>T (p.Ser351Phe)
n.554C>T
n.668C>T
c.860C>T (p.Ser287Phe)
c.677C>T (p.Ser226Phe)
1g.77933323T>ACA418572051NEXNc.1095T>A (p.Ser365=)
c.903T>A (p.Ser301=)
c.794T>A
c.1053T>A (p.Ser351=)
n.555T>A
n.669T>A
c.861T>A (p.Ser287=)
c.678T>A (p.Ser226=)
1g.77933323T>CCA418572052NEXNc.1095T>C (p.Ser365=)
c.903T>C (p.Ser301=)
c.794T>C
c.1053T>C (p.Ser351=)
n.555T>C
n.669T>C
c.861T>C (p.Ser287=)
c.678T>C (p.Ser226=)
1g.77933323T>GCA418572053NEXNc.1095T>G (p.Ser365=)
c.903T>G (p.Ser301=)
c.794T>G
c.1053T>G (p.Ser351=)
n.555T>G
n.669T>G
c.861T>G (p.Ser287=)
c.678T>G (p.Ser226=)
1g.77933324C>ACA340876666NEXNc.1096C>A (p.Gln366Lys)
c.904C>A (p.Gln302Lys)
c.795C>A
c.1054C>A (p.Gln352Lys)
n.556C>A
n.670C>A
c.862C>A (p.Gln288Lys)
c.679C>A (p.Gln227Lys)
1g.77933324C>GCA340876668NEXNc.1096C>G (p.Gln366Glu)
c.904C>G (p.Gln302Glu)
c.795C>G
c.1054C>G (p.Gln352Glu)
n.556C>G
n.670C>G
c.862C>G (p.Gln288Glu)
c.679C>G (p.Gln227Glu)
1g.77933324C>TCA340876670NEXNc.1096C>T (p.Gln366Ter)
c.904C>T (p.Gln302Ter)
c.795C>T
c.1054C>T (p.Gln352Ter)
n.556C>T
n.670C>T
c.862C>T (p.Gln288Ter)
c.679C>T (p.Gln227Ter)
 gnomAD v4
1g.77933325A>CCA340876671NEXNc.1097A>C (p.Gln366Pro)
c.905A>C (p.Gln302Pro)
c.796A>C
c.1055A>C (p.Gln352Pro)
n.557A>C
n.671A>C
c.863A>C (p.Gln288Pro)
c.680A>C (p.Gln227Pro)
 gnomAD v4
1g.77933325A>GCA340876673NEXNc.1097A>G (p.Gln366Arg)
c.905A>G (p.Gln302Arg)
c.796A>G
c.1055A>G (p.Gln352Arg)
n.557A>G
n.671A>G
c.863A>G (p.Gln288Arg)
c.680A>G (p.Gln227Arg)
1g.77933325A>TCA340876675NEXNc.1097A>T (p.Gln366Leu)
c.905A>T (p.Gln302Leu)
c.796A>T
c.1055A>T (p.Gln352Leu)
n.557A>T
n.671A>T
c.863A>T (p.Gln288Leu)
c.680A>T (p.Gln227Leu)
1g.77933326A>CCA340876676NEXNc.1098A>C (p.Gln366His)
c.906A>C (p.Gln302His)
c.797A>C
c.1056A>C (p.Gln352His)
n.558A>C
n.672A>C
c.864A>C (p.Gln288His)
c.681A>C (p.Gln227His)
1g.77933326A>GCA418572054NEXNc.1098A>G (p.Gln366=)
c.906A>G (p.Gln302=)
c.797A>G
c.1056A>G (p.Gln352=)
n.558A>G
n.672A>G
c.864A>G (p.Gln288=)
c.681A>G (p.Gln227=)
1g.77933326A>TCA340876678NEXNc.1098A>T (p.Gln366His)
c.906A>T (p.Gln302His)
c.797A>T
c.1056A>T (p.Gln352His)
n.558A>T
n.672A>T
c.864A>T (p.Gln288His)
c.681A>T (p.Gln227His)
 gnomAD v4
1g.77933327G>ACA918804NEXNc.1099G>A (p.Glu367Lys)
c.907G>A (p.Glu303Lys)
c.798G>A
c.1057G>A (p.Glu353Lys)
n.559G>A
n.673G>A
c.865G>A (p.Glu289Lys)
c.682G>A (p.Glu228Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.77933327G>CCA340876679NEXNc.1099G>C (p.Glu367Gln)
c.907G>C (p.Glu303Gln)
c.798G>C
c.1057G>C (p.Glu353Gln)
n.559G>C
n.673G>C
c.865G>C (p.Glu289Gln)
c.682G>C (p.Glu228Gln)
1g.77933327G=CA1177626700NEXNc.1099G= (p.Glu367=)
c.907G= (p.Glu303=)
c.798G=
c.1057G= (p.Glu353=)
n.559G=
n.673G=
c.865G= (p.Glu289=)
c.682G= (p.Glu228=)
1g.77933327G>TCA340876682NEXNc.1099G>T (p.Glu367Ter)
c.907G>T (p.Glu303Ter)
c.798G>T
c.1057G>T (p.Glu353Ter)
n.559G>T
n.673G>T
c.865G>T (p.Glu289Ter)
c.682G>T (p.Glu228Ter)
1g.77933328A=CA1177626702NEXNc.1100A= (p.Glu367=)
c.908A= (p.Glu303=)
c.799A=
c.1058A= (p.Glu353=)
n.560A=
n.674A=
c.866A= (p.Glu289=)
c.683A= (p.Glu228=)
1g.77933328A>CCA340876688NEXNc.1100A>C (p.Glu367Ala)
c.908A>C (p.Glu303Ala)
c.799A>C
c.1058A>C (p.Glu353Ala)
n.560A>C
n.674A>C
c.866A>C (p.Glu289Ala)
c.683A>C (p.Glu228Ala)
1g.77933328A>GCA340876686NEXNc.1100A>G (p.Glu367Gly)
c.908A>G (p.Glu303Gly)
c.799A>G
c.1058A>G (p.Glu353Gly)
n.560A>G
n.674A>G
c.866A>G (p.Glu289Gly)
c.683A>G (p.Glu228Gly)
 dbSNP gnomAD v4
1g.77933328A>TCA340876684NEXNc.1100A>T (p.Glu367Val)
c.908A>T (p.Glu303Val)
c.799A>T
c.1058A>T (p.Glu353Val)
n.560A>T
n.674A>T
c.866A>T (p.Glu289Val)
c.683A>T (p.Glu228Val)
1g.77933329A>CCA340876689NEXNc.1101A>C (p.Glu367Asp)
c.909A>C (p.Glu303Asp)
c.800A>C
c.1059A>C (p.Glu353Asp)
n.561A>C
n.675A>C
c.867A>C (p.Glu289Asp)
c.684A>C (p.Glu228Asp)
1g.77933329A>GCA418572055NEXNc.1101A>G (p.Glu367=)
c.909A>G (p.Glu303=)
c.800A>G
c.1059A>G (p.Glu353=)
n.561A>G
n.675A>G
c.867A>G (p.Glu289=)
c.684A>G (p.Glu228=)
1g.77933329A>TCA340876691NEXNc.1101A>T (p.Glu367Asp)
c.909A>T (p.Glu303Asp)
c.800A>T
c.1059A>T (p.Glu353Asp)
n.561A>T
n.675A>T
c.867A>T (p.Glu289Asp)
c.684A>T (p.Glu228Asp)
1g.77933330T>ACA340876694NEXNc.1102T>A (p.Phe368Ile)
c.910T>A (p.Phe304Ile)
c.801T>A
c.1060T>A (p.Phe354Ile)
n.562T>A
n.676T>A
c.868T>A (p.Phe290Ile)
c.685T>A (p.Phe229Ile)
1g.77933330T>CCA340876695NEXNc.1102T>C (p.Phe368Leu)
c.910T>C (p.Phe304Leu)
c.801T>C
c.1060T>C (p.Phe354Leu)
n.562T>C
n.676T>C
c.868T>C (p.Phe290Leu)
c.685T>C (p.Phe229Leu)
 gnomAD v4
1g.77933330T>GCA340876697NEXNc.1102T>G (p.Phe368Val)
c.910T>G (p.Phe304Val)
c.801T>G
c.1060T>G (p.Phe354Val)
n.562T>G
n.676T>G
c.868T>G (p.Phe290Val)
c.685T>G (p.Phe229Val)
1g.77933331T>ACA340876700NEXNc.1103T>A (p.Phe368Tyr)
c.911T>A (p.Phe304Tyr)
c.802T>A
c.1061T>A (p.Phe354Tyr)
n.563T>A
n.677T>A
c.869T>A (p.Phe290Tyr)
c.686T>A (p.Phe229Tyr)
1g.77933331T>CCA340876701NEXNc.1103T>C (p.Phe368Ser)
c.911T>C (p.Phe304Ser)
c.802T>C
c.1061T>C (p.Phe354Ser)
n.563T>C
n.677T>C
c.869T>C (p.Phe290Ser)
c.686T>C (p.Phe229Ser)
1g.77933331T>GCA340876702NEXNc.1103T>G (p.Phe368Cys)
c.911T>G (p.Phe304Cys)
c.802T>G
c.1061T>G (p.Phe354Cys)
n.563T>G
n.677T>G
c.869T>G (p.Phe290Cys)
c.686T>G (p.Phe229Cys)
1g.77933332T>ACA340876703NEXNc.1104T>A (p.Phe368Leu)
c.912T>A (p.Phe304Leu)
c.803T>A
c.1062T>A (p.Phe354Leu)
n.564T>A
n.678T>A
c.870T>A (p.Phe290Leu)
c.687T>A (p.Phe229Leu)
1g.77933332T>CCA418572056NEXNc.1104T>C (p.Phe368=)
c.912T>C (p.Phe304=)
c.803T>C
c.1062T>C (p.Phe354=)
n.564T>C
n.678T>C
c.870T>C (p.Phe290=)
c.687T>C (p.Phe229=)
1g.77933332T>GCA340876704NEXNc.1104T>G (p.Phe368Leu)
c.912T>G (p.Phe304Leu)
c.803T>G
c.1062T>G (p.Phe354Leu)
n.564T>G
n.678T>G
c.870T>G (p.Phe290Leu)
c.687T>G (p.Phe229Leu)
1g.77933333C>ACA340876705NEXNc.1105C>A (p.Leu369Ile)
c.913C>A (p.Leu305Ile)
c.804C>A
c.1063C>A (p.Leu355Ile)
n.565C>A
n.679C>A
c.871C>A (p.Leu291Ile)
c.688C>A (p.Leu230Ile)
1g.77933333C>GCA340876706NEXNc.1105C>G (p.Leu369Val)
c.913C>G (p.Leu305Val)
c.804C>G
c.1063C>G (p.Leu355Val)
n.565C>G
n.679C>G
c.871C>G (p.Leu291Val)
c.688C>G (p.Leu230Val)
1g.77933333C>TCA340876707NEXNc.1105C>T (p.Leu369Phe)
c.913C>T (p.Leu305Phe)
c.804C>T
c.1063C>T (p.Leu355Phe)
n.565C>T
n.679C>T
c.871C>T (p.Leu291Phe)
c.688C>T (p.Leu230Phe)
1g.77933334T>ACA340876710NEXNc.1106T>A (p.Leu369His)
c.914T>A (p.Leu305His)
c.805T>A
c.1064T>A (p.Leu355His)
n.566T>A
n.680T>A
c.872T>A (p.Leu291His)
c.689T>A (p.Leu230His)
1g.77933334T>CCA340876709NEXNc.1106T>C (p.Leu369Pro)
c.914T>C (p.Leu305Pro)
c.805T>C
c.1064T>C (p.Leu355Pro)
n.566T>C
n.680T>C
c.872T>C (p.Leu291Pro)
c.689T>C (p.Leu230Pro)
1g.77933334T>GCA340876708NEXNc.1106T>G (p.Leu369Arg)
c.914T>G (p.Leu305Arg)
c.805T>G
c.1064T>G (p.Leu355Arg)
n.566T>G
n.680T>G
c.872T>G (p.Leu291Arg)
c.689T>G (p.Leu230Arg)
1g.77933335T>ACA418572057NEXNc.1107T>A (p.Leu369=)
c.915T>A (p.Leu305=)
c.806T>A
c.1065T>A (p.Leu355=)
n.567T>A
n.681T>A
c.873T>A (p.Leu291=)
c.690T>A (p.Leu230=)
1g.77933335T>CCA418572058NEXNc.1107T>C (p.Leu369=)
c.915T>C (p.Leu305=)
c.806T>C
c.1065T>C (p.Leu355=)
n.567T>C
n.681T>C
c.873T>C (p.Leu291=)
c.690T>C (p.Leu230=)
1g.77933335T>GCA418572059NEXNc.1107T>G (p.Leu369=)
c.915T>G (p.Leu305=)
c.806T>G
c.1065T>G (p.Leu355=)
n.567T>G
n.681T>G
c.873T>G (p.Leu291=)
c.690T>G (p.Leu230=)
1g.77933336A=CA1177626703NEXNc.1108A= (p.Thr370=)
c.916A= (p.Thr306=)
c.807A=
c.1066A= (p.Thr356=)
n.568A=
n.682A=
c.874A= (p.Thr292=)
c.691A= (p.Thr231=)
1g.77933336A>CCA340876711NEXNc.1108A>C (p.Thr370Pro)
c.916A>C (p.Thr306Pro)
c.807A>C
c.1066A>C (p.Thr356Pro)
n.568A>C
n.682A>C
c.874A>C (p.Thr292Pro)
c.691A>C (p.Thr231Pro)
1g.77933336A>GCA340876712NEXNc.1108A>G (p.Thr370Ala)
c.916A>G (p.Thr306Ala)
c.807A>G
c.1066A>G (p.Thr356Ala)
n.568A>G
n.682A>G
c.874A>G (p.Thr292Ala)
c.691A>G (p.Thr231Ala)
 ClinVar dbSNP
1g.77933336A>TCA340876713NEXNc.1108A>T (p.Thr370Ser)
c.916A>T (p.Thr306Ser)
c.807A>T
c.1066A>T (p.Thr356Ser)
n.568A>T
n.682A>T
c.874A>T (p.Thr292Ser)
c.691A>T (p.Thr231Ser)
1g.77933337C>ACA340876714NEXNc.1109C>A (p.Thr370Lys)
c.917C>A (p.Thr306Lys)
c.808C>A
c.1067C>A (p.Thr356Lys)
n.569C>A
n.683C>A
c.875C>A (p.Thr292Lys)
c.692C>A (p.Thr231Lys)
1g.77933337C>GCA340876715NEXNc.1109C>G (p.Thr370Arg)
c.917C>G (p.Thr306Arg)
c.808C>G
c.1067C>G (p.Thr356Arg)
n.569C>G
n.683C>G
c.875C>G (p.Thr292Arg)
c.692C>G (p.Thr231Arg)
1g.77933337C>TCA340876716NEXNc.1109C>T (p.Thr370Ile)
c.917C>T (p.Thr306Ile)
c.808C>T
c.1067C>T (p.Thr356Ile)
n.569C>T
n.683C>T
c.875C>T (p.Thr292Ile)
c.692C>T (p.Thr231Ile)
1g.77933338A=CA1145570309NEXNc.1110A= (p.Thr370=)
c.918A= (p.Thr306=)
c.809A=
c.1068A= (p.Thr356=)
n.570A=
n.684A=
c.876A= (p.Thr292=)
c.693A= (p.Thr231=)
1g.77933338A>CCA418572060NEXNc.1110A>C (p.Thr370=)
c.918A>C (p.Thr306=)
c.809A>C
c.1068A>C (p.Thr356=)
n.570A>C
n.684A>C
c.876A>C (p.Thr292=)
c.693A>C (p.Thr231=)
1g.77933338A>GCA418572061NEXNc.1110A>G (p.Thr370=)
c.918A>G (p.Thr306=)
c.809A>G
c.1068A>G (p.Thr356=)
n.570A>G
n.684A>G
c.876A>G (p.Thr292=)
c.693A>G (p.Thr231=)
1g.77933338A>TCA918805NEXNc.1110A>T (p.Thr370=)
c.918A>T (p.Thr306=)
c.809A>T
c.1068A>T (p.Thr356=)
n.570A>T
n.684A>T
c.876A>T (p.Thr292=)
c.693A>T (p.Thr231=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933339C>ACA340876717NEXNc.1111C>A (p.Pro371Thr)
c.919C>A (p.Pro307Thr)
c.810C>A
c.1069C>A (p.Pro357Thr)
n.571C>A
n.685C>A
c.877C>A (p.Pro293Thr)
c.694C>A (p.Pro232Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933339C=CA1177626706NEXNc.1111C= (p.Pro371=)
c.919C= (p.Pro307=)
c.810C=
c.1069C= (p.Pro357=)
n.571C=
n.685C=
c.877C= (p.Pro293=)
c.694C= (p.Pro232=)
1g.77933339C>GCA340876718NEXNc.1111C>G (p.Pro371Ala)
c.919C>G (p.Pro307Ala)
c.810C>G
c.1069C>G (p.Pro357Ala)
n.571C>G
n.685C>G
c.877C>G (p.Pro293Ala)
c.694C>G (p.Pro232Ala)
1g.77933339C>TCA340876719NEXNc.1111C>T (p.Pro371Ser)
c.919C>T (p.Pro307Ser)
c.810C>T
c.1069C>T (p.Pro357Ser)
n.571C>T
n.685C>T
c.877C>T (p.Pro293Ser)
c.694C>T (p.Pro232Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.77933340C>ACA24684201NEXNc.1112C>A (p.Pro371Gln)
c.920C>A (p.Pro307Gln)
c.811C>A
c.1070C>A (p.Pro357Gln)
n.572C>A
n.686C>A
c.878C>A (p.Pro293Gln)
c.695C>A (p.Pro232Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933340C=CA1143393216NEXNc.1112C= (p.Pro371=)
c.920C= (p.Pro307=)
c.811C=
c.1070C= (p.Pro357=)
n.572C=
n.686C=
c.878C= (p.Pro293=)
c.695C= (p.Pro232=)
1g.77933340C>GCA340876720NEXNc.1112C>G (p.Pro371Arg)
c.920C>G (p.Pro307Arg)
c.811C>G
c.1070C>G (p.Pro357Arg)
n.572C>G
n.686C>G
c.878C>G (p.Pro293Arg)
c.695C>G (p.Pro232Arg)
1g.77933340C>TCA142104NEXNc.1112C>T (p.Pro371Leu)
c.920C>T (p.Pro307Leu)
c.811C>T
c.1070C>T (p.Pro357Leu)
n.572C>T
n.686C>T
c.878C>T (p.Pro293Leu)
c.695C>T (p.Pro232Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933341G>ACA918806NEXNc.1113G>A (p.Pro371=)
c.921G>A (p.Pro307=)
c.812G>A
c.1071G>A (p.Pro357=)
n.573G>A
n.687G>A
c.879G>A (p.Pro293=)
c.696G>A (p.Pro232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.77933341G>CCA418572062NEXNc.1113G>C (p.Pro371=)
c.921G>C (p.Pro307=)
c.812G>C
c.1071G>C (p.Pro357=)
n.573G>C
n.687G>C
c.879G>C (p.Pro293=)
c.696G>C (p.Pro232=)
1g.77933341G=CA1177626711NEXNc.1113G= (p.Pro371=)
c.921G= (p.Pro307=)
c.812G=
c.1071G= (p.Pro357=)
n.573G=
n.687G=
c.879G= (p.Pro293=)
c.696G= (p.Pro232=)
1g.77933341G>TCA418572063NEXNc.1113G>T (p.Pro371=)
c.921G>T (p.Pro307=)
c.812G>T
c.1071G>T (p.Pro357=)
n.573G>T
n.687G>T
c.879G>T (p.Pro293=)
c.696G>T (p.Pro232=)
 gnomAD v4
1g.77933342G>ACA340876722NEXNc.1114G>A (p.Gly372Arg)
c.922G>A (p.Gly308Arg)
c.813G>A
c.1072G>A (p.Gly358Arg)
n.574G>A
n.688G>A
c.880G>A (p.Gly294Arg)
c.697G>A (p.Gly233Arg)
 gnomAD v4 COSMIC COSMIC
1g.77933342G>CCA340876723NEXNc.1114G>C (p.Gly372Arg)
c.922G>C (p.Gly308Arg)
c.813G>C
c.1072G>C (p.Gly358Arg)
n.574G>C
n.688G>C
c.880G>C (p.Gly294Arg)
c.697G>C (p.Gly233Arg)
 gnomAD v4
1g.77933342G>TCA340876721NEXNc.1114G>T (p.Gly372Ter)
c.922G>T (p.Gly308Ter)
c.813G>T
c.1072G>T (p.Gly358Ter)
n.574G>T
n.688G>T
c.880G>T (p.Gly294Ter)
c.697G>T (p.Gly233Ter)
1g.77933343G>ACA340876724NEXNc.1115G>A (p.Gly372Glu)
c.923G>A (p.Gly308Glu)
c.814G>A
c.1073G>A (p.Gly358Glu)
n.575G>A
n.689G>A
c.881G>A (p.Gly294Glu)
c.698G>A (p.Gly233Glu)
1g.77933343G>CCA340876725NEXNc.1115G>C (p.Gly372Ala)
c.923G>C (p.Gly308Ala)
c.814G>C
c.1073G>C (p.Gly358Ala)
n.575G>C
n.689G>C
c.881G>C (p.Gly294Ala)
c.698G>C (p.Gly233Ala)
1g.77933343G>TCA340876726NEXNc.1115G>T (p.Gly372Val)
c.923G>T (p.Gly308Val)
c.814G>T
c.1073G>T (p.Gly358Val)
n.575G>T
n.689G>T
c.881G>T (p.Gly294Val)
c.698G>T (p.Gly233Val)
 gnomAD v4
1g.77933344A=CA1177626713NEXNc.1116A= (p.Gly372=)
c.924A= (p.Gly308=)
c.815A=
c.1074A= (p.Gly358=)
n.576A=
n.690A=
c.882A= (p.Gly294=)
c.699A= (p.Gly233=)
1g.77933344A>CCA418572064NEXNc.1116A>C (p.Gly372=)
c.924A>C (p.Gly308=)
c.815A>C
c.1074A>C (p.Gly358=)
n.576A>C
n.690A>C
c.882A>C (p.Gly294=)
c.699A>C (p.Gly233=)
1g.77933344A>GCA418572065NEXNc.1116A>G (p.Gly372=)
c.924A>G (p.Gly308=)
c.815A>G
c.1074A>G (p.Gly358=)
n.576A>G
n.690A>G
c.882A>G (p.Gly294=)
c.699A>G (p.Gly233=)
 dbSNP gnomAD v4
1g.77933344A>TCA418572066NEXNc.1116A>T (p.Gly372=)
c.924A>T (p.Gly308=)
c.815A>T
c.1074A>T (p.Gly358=)
n.576A>T
n.690A>T
c.882A>T (p.Gly294=)
c.699A>T (p.Gly233=)
1g.77933345A=CA1177626716NEXNc.1117A= (p.Lys373=)
c.925A= (p.Lys309=)
c.816A=
c.1075A= (p.Lys359=)
n.577A=
n.691A=
c.883A= (p.Lys295=)
c.700A= (p.Lys234=)
1g.77933345A>CCA918807NEXNc.1117A>C (p.Lys373Gln)
c.925A>C (p.Lys309Gln)
c.816A>C
c.1075A>C (p.Lys359Gln)
n.577A>C
n.691A>C
c.883A>C (p.Lys295Gln)
c.700A>C (p.Lys234Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.77933345A>GCA340876727NEXNc.1117A>G (p.Lys373Glu)
c.925A>G (p.Lys309Glu)
c.816A>G
c.1075A>G (p.Lys359Glu)
n.577A>G
n.691A>G
c.883A>G (p.Lys295Glu)
c.700A>G (p.Lys234Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.77933345A>TCA340876728NEXNc.1117A>T (p.Lys373Ter)
c.925A>T (p.Lys309Ter)
c.816A>T
c.1075A>T (p.Lys359Ter)
n.577A>T
n.691A>T
c.883A>T (p.Lys295Ter)
c.700A>T (p.Lys234Ter)
1g.77933346A>CCA340876729NEXNc.1118A>C (p.Lys373Thr)
c.926A>C (p.Lys309Thr)
c.817A>C
c.1076A>C (p.Lys359Thr)
n.578A>C
n.692A>C
c.884A>C (p.Lys295Thr)
c.701A>C (p.Lys234Thr)
1g.77933346A>GCA340876730NEXNc.1118A>G (p.Lys373Arg)
c.926A>G (p.Lys309Arg)
c.817A>G
c.1076A>G (p.Lys359Arg)
n.578A>G
n.692A>G
c.884A>G (p.Lys295Arg)
c.701A>G (p.Lys234Arg)
1g.77933346A>TCA340876731NEXNc.1118A>T (p.Lys373Ile)
c.926A>T (p.Lys309Ile)
c.817A>T
c.1076A>T (p.Lys359Ile)
n.578A>T
n.692A>T
c.884A>T (p.Lys295Ile)
c.701A>T (p.Lys234Ile)
1g.77933347A>CCA340876732NEXNc.1119A>C (p.Lys373Asn)
c.927A>C (p.Lys309Asn)
c.818A>C
c.1077A>C (p.Lys359Asn)
n.579A>C
n.693A>C
c.885A>C (p.Lys295Asn)
c.702A>C (p.Lys234Asn)
1g.77933347A>GCA418572067NEXNc.1119A>G (p.Lys373=)
c.927A>G (p.Lys309=)
c.818A>G
c.1077A>G (p.Lys359=)
n.579A>G
n.693A>G
c.885A>G (p.Lys295=)
c.702A>G (p.Lys234=)
1g.77933347A>TCA340876733NEXNc.1119A>T (p.Lys373Asn)
c.927A>T (p.Lys309Asn)
c.818A>T
c.1077A>T (p.Lys359Asn)
n.579A>T
n.693A>T
c.885A>T (p.Lys295Asn)
c.702A>T (p.Lys234Asn)
1g.77933348C>ACA340876734NEXNc.1120C>A (p.Leu374Met)
c.928C>A (p.Leu310Met)
c.819C>A
c.1078C>A (p.Leu360Met)
n.580C>A
n.694C>A
c.886C>A (p.Leu296Met)
c.703C>A (p.Leu235Met)
1g.77933348C>GCA340876735NEXNc.1120C>G (p.Leu374Val)
c.928C>G (p.Leu310Val)
c.819C>G
c.1078C>G (p.Leu360Val)
n.580C>G
n.694C>G
c.886C>G (p.Leu296Val)
c.703C>G (p.Leu235Val)
1g.77933348C>TCA418572068NEXNc.1120C>T (p.Leu374=)
c.928C>T (p.Leu310=)
c.819C>T
c.1078C>T (p.Leu360=)
n.580C>T
n.694C>T
c.886C>T (p.Leu296=)
c.703C>T (p.Leu235=)
1g.77933349T>ACA340876736NEXNc.1121T>A (p.Leu374Gln)
c.929T>A (p.Leu310Gln)
c.820T>A
c.1079T>A (p.Leu360Gln)
n.581T>A
n.695T>A
c.887T>A (p.Leu296Gln)
c.704T>A (p.Leu235Gln)
1g.77933349T>CCA340876738NEXNc.1121T>C (p.Leu374Pro)
c.929T>C (p.Leu310Pro)
c.820T>C
c.1079T>C (p.Leu360Pro)
n.581T>C
n.695T>C
c.887T>C (p.Leu296Pro)
c.704T>C (p.Leu235Pro)
1g.77933349T>GCA340876737NEXNc.1121T>G (p.Leu374Arg)
c.929T>G (p.Leu310Arg)
c.820T>G
c.1079T>G (p.Leu360Arg)
n.581T>G
n.695T>G
c.887T>G (p.Leu296Arg)
c.704T>G (p.Leu235Arg)
 ClinVar gnomAD v4
1g.77933350G>ACA418572069NEXNc.1122G>A (p.Leu374=)
c.930G>A (p.Leu310=)
c.821G>A
c.1080G>A (p.Leu360=)
n.582G>A
n.696G>A
c.888G>A (p.Leu296=)
c.705G>A (p.Leu235=)
1g.77933350G>CCA418572070NEXNc.1122G>C (p.Leu374=)
c.930G>C (p.Leu310=)
c.821G>C
c.1080G>C (p.Leu360=)
n.582G>C
n.696G>C
c.888G>C (p.Leu296=)
c.705G>C (p.Leu235=)
1g.77933350G>TCA418572071NEXNc.1122G>T (p.Leu374=)
c.930G>T (p.Leu310=)
c.821G>T
c.1080G>T (p.Leu360=)
n.582G>T
n.696G>T
c.888G>T (p.Leu296=)
c.705G>T (p.Leu235=)
1g.77933351G>ACA340876739NEXNc.1123G>A (p.Glu375Lys)
c.931G>A (p.Glu311Lys)
c.822G>A
c.1081G>A (p.Glu361Lys)
n.583G>A
n.697G>A
c.889G>A (p.Glu297Lys)
c.706G>A (p.Glu236Lys)
1g.77933351G>CCA340876740NEXNc.1123G>C (p.Glu375Gln)
c.931G>C (p.Glu311Gln)
c.822G>C
c.1081G>C (p.Glu361Gln)
n.583G>C
n.697G>C
c.889G>C (p.Glu297Gln)
c.706G>C (p.Glu236Gln)
1g.77933351G=CA1177626720NEXNc.1123G= (p.Glu375=)
c.931G= (p.Glu311=)
c.822G=
c.1081G= (p.Glu361=)
n.583G=
n.697G=
c.889G= (p.Glu297=)
c.706G= (p.Glu236=)
1g.77933351G>TCA340876741NEXNc.1123G>T (p.Glu375Ter)
c.931G>T (p.Glu311Ter)
c.822G>T
c.1081G>T (p.Glu361Ter)
n.583G>T
n.697G>T
c.889G>T (p.Glu297Ter)
c.706G>T (p.Glu236Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77933352A>CCA340876742NEXNc.1124A>C (p.Glu375Ala)
c.932A>C (p.Glu311Ala)
c.823A>C
c.1082A>C (p.Glu361Ala)
n.584A>C
n.698A>C
c.890A>C (p.Glu297Ala)
c.707A>C (p.Glu236Ala)
 gnomAD v4
1g.77933352A>GCA340876743NEXNc.1124A>G (p.Glu375Gly)
c.932A>G (p.Glu311Gly)
c.823A>G
c.1082A>G (p.Glu361Gly)
n.584A>G
n.698A>G
c.890A>G (p.Glu297Gly)
c.707A>G (p.Glu236Gly)
1g.77933352A>TCA340876744NEXNc.1124A>T (p.Glu375Val)
c.932A>T (p.Glu311Val)
c.823A>T
c.1082A>T (p.Glu361Val)
n.584A>T
n.698A>T
c.890A>T (p.Glu297Val)
c.707A>T (p.Glu236Val)
1g.77933353A>CCA340876746NEXNc.1125A>C (p.Glu375Asp)
c.933A>C (p.Glu311Asp)
c.824A>C
c.1083A>C (p.Glu361Asp)
n.585A>C
n.699A>C
c.891A>C (p.Glu297Asp)
c.708A>C (p.Glu236Asp)
1g.77933353A>GCA418572072NEXNc.1125A>G (p.Glu375=)
c.933A>G (p.Glu311=)
c.824A>G
c.1083A>G (p.Glu361=)
n.585A>G
n.699A>G
c.891A>G (p.Glu297=)
c.708A>G (p.Glu236=)
1g.77933353A>TCA340876747NEXNc.1125A>T (p.Glu375Asp)
c.933A>T (p.Glu311Asp)
c.824A>T
c.1083A>T (p.Glu361Asp)
n.585A>T
n.699A>T
c.891A>T (p.Glu297Asp)
c.708A>T (p.Glu236Asp)
1g.77933354A>CCA340876748NEXNc.1126A>C (p.Ile376Leu)
c.934A>C (p.Ile312Leu)
c.825A>C
c.1084A>C (p.Ile362Leu)
n.586A>C
n.700A>C
c.892A>C (p.Ile298Leu)
c.709A>C (p.Ile237Leu)
1g.77933354A>GCA340876750NEXNc.1126A>G (p.Ile376Val)
c.934A>G (p.Ile312Val)
c.825A>G
c.1084A>G (p.Ile362Val)
n.586A>G
n.700A>G
c.892A>G (p.Ile298Val)
c.709A>G (p.Ile237Val)
 gnomAD v4
1g.77933354A>TCA340876752NEXNc.1126A>T (p.Ile376Phe)
c.934A>T (p.Ile312Phe)
c.825A>T
c.1084A>T (p.Ile362Phe)
n.586A>T
n.700A>T
c.892A>T (p.Ile298Phe)
c.709A>T (p.Ile237Phe)
1g.77933355T>ACA340876763NEXNc.1127T>A (p.Ile376Asn)
c.935T>A (p.Ile312Asn)
c.826T>A
c.1085T>A (p.Ile362Asn)
n.587T>A
n.701T>A
c.893T>A (p.Ile298Asn)
c.710T>A (p.Ile237Asn)
1g.77933355T>CCA340876765NEXNc.1127T>C (p.Ile376Thr)
c.935T>C (p.Ile312Thr)
c.826T>C
c.1085T>C (p.Ile362Thr)
n.587T>C
n.701T>C
c.893T>C (p.Ile298Thr)
c.710T>C (p.Ile237Thr)
1g.77933355T>GCA340876758NEXNc.1127T>G (p.Ile376Ser)
c.935T>G (p.Ile312Ser)
c.826T>G
c.1085T>G (p.Ile362Ser)
n.587T>G
n.701T>G
c.893T>G (p.Ile298Ser)
c.710T>G (p.Ile237Ser)
1g.77933356T>ACA418572073NEXNc.1128T>A (p.Ile376=)
c.936T>A (p.Ile312=)
c.827T>A
c.1086T>A (p.Ile362=)
n.588T>A
n.702T>A
c.894T>A (p.Ile298=)
c.711T>A (p.Ile237=)
1g.77933356T>CCA418572074NEXNc.1128T>C (p.Ile376=)
c.936T>C (p.Ile312=)
c.827T>C
c.1086T>C (p.Ile362=)
n.588T>C
n.702T>C
c.894T>C (p.Ile298=)
c.711T>C (p.Ile237=)
1g.77933356T>GCA340876766NEXNc.1128T>G (p.Ile376Met)
c.936T>G (p.Ile312Met)
c.827T>G
c.1086T>G (p.Ile362Met)
n.588T>G
n.702T>G
c.894T>G (p.Ile298Met)
c.711T>G (p.Ile237Met)
1g.77933357A>CCA340876768NEXNc.1129A>C (p.Asn377His)
c.937A>C (p.Asn313His)
c.828A>C
c.1087A>C (p.Asn363His)
n.589A>C
n.703A>C
c.895A>C (p.Asn299His)
c.712A>C (p.Asn238His)
1g.77933357A>GCA340876773NEXNc.1129A>G (p.Asn377Asp)
c.937A>G (p.Asn313Asp)
c.828A>G
c.1087A>G (p.Asn363Asp)
n.589A>G
n.703A>G
c.895A>G (p.Asn299Asp)
c.712A>G (p.Asn238Asp)
1g.77933357A>TCA340876770NEXNc.1129A>T (p.Asn377Tyr)
c.937A>T (p.Asn313Tyr)
c.828A>T
c.1087A>T (p.Asn363Tyr)
n.589A>T
n.703A>T
c.895A>T (p.Asn299Tyr)
c.712A>T (p.Asn238Tyr)
1g.77933358dupCA2646274519NEXNc.1130dup (p.Asn377LysfsTer3)
c.938dup (p.Asn313LysfsTer3)
c.829dup
c.1088dup (p.Asn363LysfsTer3)
n.590dup
n.704dup
c.896dup (p.Asn299LysfsTer3)
c.713dup (p.Asn238LysfsTer3)
 gnomAD v4
1g.77933358A>CCA340876775NEXNc.1130A>C (p.Asn377Thr)
c.938A>C (p.Asn313Thr)
c.829A>C
c.1088A>C (p.Asn363Thr)
n.590A>C
n.704A>C
c.896A>C (p.Asn299Thr)
c.713A>C (p.Asn238Thr)
1g.77933358A>GCA340876777NEXNc.1130A>G (p.Asn377Ser)
c.938A>G (p.Asn313Ser)
c.829A>G
c.1088A>G (p.Asn363Ser)
n.590A>G
n.704A>G
c.896A>G (p.Asn299Ser)
c.713A>G (p.Asn238Ser)
 dbSNP gnomAD v4
1g.77933358A>TCA340876779NEXNc.1130A>T (p.Asn377Ile)
c.938A>T (p.Asn313Ile)
c.829A>T
c.1088A>T (p.Asn363Ile)
n.590A>T
n.704A>T
c.896A>T (p.Asn299Ile)
c.713A>T (p.Asn238Ile)
1g.77933359T>ACA340876789NEXNc.1131T>A (p.Asn377Lys)
c.939T>A (p.Asn313Lys)
c.830T>A
c.1089T>A (p.Asn363Lys)
n.591T>A
n.705T>A
c.897T>A (p.Asn299Lys)
c.714T>A (p.Asn238Lys)
 COSMIC
1g.77933359T>CCA418572075NEXNc.1131T>C (p.Asn377=)
c.939T>C (p.Asn313=)
c.830T>C
c.1089T>C (p.Asn363=)
n.591T>C
n.705T>C
c.897T>C (p.Asn299=)
c.714T>C (p.Asn238=)
1g.77933359T>GCA340876791NEXNc.1131T>G (p.Asn377Lys)
c.939T>G (p.Asn313Lys)
c.830T>G
c.1089T>G (p.Asn363Lys)
n.591T>G
n.705T>G
c.897T>G (p.Asn299Lys)
c.714T>G (p.Asn238Lys)
1g.77933360T>ACA340876794NEXNc.1132T>A (p.Phe378Ile)
c.940T>A (p.Phe314Ile)
c.831T>A
c.1090T>A (p.Phe364Ile)
n.592T>A
n.706T>A
c.898T>A (p.Phe300Ile)
c.715T>A (p.Phe239Ile)
1g.77933360T>CCA340876798NEXNc.1132T>C (p.Phe378Leu)
c.940T>C (p.Phe314Leu)
c.831T>C
c.1090T>C (p.Phe364Leu)
n.592T>C
n.706T>C
c.898T>C (p.Phe300Leu)
c.715T>C (p.Phe239Leu)
1g.77933360T>GCA340876800NEXNc.1132T>G (p.Phe378Val)
c.940T>G (p.Phe314Val)
c.831T>G
c.1090T>G (p.Phe364Val)
n.592T>G
n.706T>G
c.898T>G (p.Phe300Val)
c.715T>G (p.Phe239Val)
1g.77933361T>ACA340876803NEXNc.1133T>A (p.Phe378Tyr)
c.941T>A (p.Phe314Tyr)
c.832T>A
c.1091T>A (p.Phe364Tyr)
n.593T>A
n.707T>A
c.899T>A (p.Phe300Tyr)
c.716T>A (p.Phe239Tyr)
1g.77933361T>CCA340876805NEXNc.1133T>C (p.Phe378Ser)
c.941T>C (p.Phe314Ser)
c.832T>C
c.1091T>C (p.Phe364Ser)
n.593T>C
n.707T>C
c.899T>C (p.Phe300Ser)
c.716T>C (p.Phe239Ser)
1g.77933361T>GCA340876806NEXNc.1133T>G (p.Phe378Cys)
c.941T>G (p.Phe314Cys)
c.832T>G
c.1091T>G (p.Phe364Cys)
n.593T>G
n.707T>G
c.899T>G (p.Phe300Cys)
c.716T>G (p.Phe239Cys)
1g.77933362T>ACA340876807NEXNc.1134T>A (p.Phe378Leu)
c.942T>A (p.Phe314Leu)
c.833T>A
c.1092T>A (p.Phe364Leu)
n.594T>A
n.708T>A
c.900T>A (p.Phe300Leu)
c.717T>A (p.Phe239Leu)
1g.77933362T>CCA418572076NEXNc.1134T>C (p.Phe378=)
c.942T>C (p.Phe314=)
c.833T>C
c.1092T>C (p.Phe364=)
n.594T>C
n.708T>C
c.900T>C (p.Phe300=)
c.717T>C (p.Phe239=)
1g.77933362T>GCA340876808NEXNc.1134T>G (p.Phe378Leu)
c.942T>G (p.Phe314Leu)
c.833T>G
c.1092T>G (p.Phe364Leu)
n.594T>G
n.708T>G
c.900T>G (p.Phe300Leu)
c.717T>G (p.Phe239Leu)
1g.77933363G>ACA340876810NEXNc.1135G>A (p.Glu379Lys)
c.943G>A (p.Glu315Lys)
c.834G>A
c.1093G>A (p.Glu365Lys)
n.595G>A
n.709G>A
c.901G>A (p.Glu301Lys)
c.718G>A (p.Glu240Lys)
1g.77933363G>CCA340876817NEXNc.1135G>C (p.Glu379Gln)
c.943G>C (p.Glu315Gln)
c.834G>C
c.1093G>C (p.Glu365Gln)
n.595G>C
n.709G>C
c.901G>C (p.Glu301Gln)
c.718G>C (p.Glu240Gln)
 dbSNP
1g.77933363G>TCA340876815NEXNc.1135G>T (p.Glu379Ter)
c.943G>T (p.Glu315Ter)
c.834G>T
c.1093G>T (p.Glu365Ter)
n.595G>T
n.709G>T
c.901G>T (p.Glu301Ter)
c.718G>T (p.Glu240Ter)
1g.77933364A>CCA340876829NEXNc.1136A>C (p.Glu379Ala)
c.944A>C (p.Glu315Ala)
c.835A>C
c.1094A>C (p.Glu365Ala)
n.596A>C
n.710A>C
c.902A>C (p.Glu301Ala)
c.719A>C (p.Glu240Ala)
1g.77933364A>GCA340876830NEXNc.1136A>G (p.Glu379Gly)
c.944A>G (p.Glu315Gly)
c.835A>G
c.1094A>G (p.Glu365Gly)
n.596A>G
n.710A>G
c.902A>G (p.Glu301Gly)
c.719A>G (p.Glu240Gly)
1g.77933364A>TCA340876832NEXNc.1136A>T (p.Glu379Val)
c.944A>T (p.Glu315Val)
c.835A>T
c.1094A>T (p.Glu365Val)
n.596A>T
n.710A>T
c.902A>T (p.Glu301Val)
c.719A>T (p.Glu240Val)
1g.77933365A=CA1177626724NEXNc.1137A= (p.Glu379=)
c.945A= (p.Glu315=)
c.836A=
c.1095A= (p.Glu365=)
n.597A=
n.711A=
c.903A= (p.Glu301=)
c.720A= (p.Glu240=)
1g.77933365A>CCA340876834NEXNc.1137A>C (p.Glu379Asp)
c.945A>C (p.Glu315Asp)
c.836A>C
c.1095A>C (p.Glu365Asp)
n.597A>C
n.711A>C
c.903A>C (p.Glu301Asp)
c.720A>C (p.Glu240Asp)
1g.77933365A>GCA418572078NEXNc.1137A>G (p.Glu379=)
c.945A>G (p.Glu315=)
c.836A>G
c.1095A>G (p.Glu365=)
n.597A>G
n.711A>G
c.903A>G (p.Glu301=)
c.720A>G (p.Glu240=)
 ClinVar dbSNP
1g.77933365A>TCA340876836NEXNc.1137A>T (p.Glu379Asp)
c.945A>T (p.Glu315Asp)
c.836A>T
c.1095A>T (p.Glu365Asp)
n.597A>T
n.711A>T
c.903A>T (p.Glu301Asp)
c.720A>T (p.Glu240Asp)
1g.77933366G>ACA340876838NEXNc.1138G>A (p.Glu380Lys)
c.946G>A (p.Glu316Lys)
c.837G>A
c.1096G>A (p.Glu366Lys)
n.598G>A
n.712G>A
c.904G>A (p.Glu302Lys)
c.721G>A (p.Glu241Lys)
1g.77933366G>CCA340876840NEXNc.1138G>C (p.Glu380Gln)
c.946G>C (p.Glu316Gln)
c.837G>C
c.1096G>C (p.Glu366Gln)
n.598G>C
n.712G>C
c.904G>C (p.Glu302Gln)
c.721G>C (p.Glu241Gln)
1g.77933366G>TCA340876842NEXNc.1138G>T (p.Glu380Ter)
c.946G>T (p.Glu316Ter)
c.837G>T
c.1096G>T (p.Glu366Ter)
n.598G>T
n.712G>T
c.904G>T (p.Glu302Ter)
c.721G>T (p.Glu241Ter)
1g.77933366_77933369delinsGAATCA1177626725NEXNc.1138_1141delinsGAAT (p.Glu380=)
c.946_949delinsGAAT (p.Glu316=)
c.837_840delinsGAAT
c.1096_1099delinsGAAT (p.Glu366=)
n.598_601delinsGAAT
n.712_715delinsGAAT
c.904_907delinsGAAT (p.Glu302=)
c.721_724delinsGAAT (p.Glu241=)
1g.77933367A=CA1177626728NEXNc.1139A= (p.Glu380=)
c.947A= (p.Glu316=)
c.838A=
c.1097A= (p.Glu366=)
n.599A=
n.713A=
c.905A= (p.Glu302=)
c.722A= (p.Glu241=)
1g.77933367A>CCA340876843NEXNc.1139A>C (p.Glu380Ala)
c.947A>C (p.Glu316Ala)
c.838A>C
c.1097A>C (p.Glu366Ala)
n.599A>C
n.713A>C
c.905A>C (p.Glu302Ala)
c.722A>C (p.Glu241Ala)
1g.77933367A>GCA340876846NEXNc.1139A>G (p.Glu380Gly)
c.947A>G (p.Glu316Gly)
c.838A>G
c.1097A>G (p.Glu366Gly)
n.599A>G
n.713A>G
c.905A>G (p.Glu302Gly)
c.722A>G (p.Glu241Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933367A>TCA340876852NEXNc.1139A>T (p.Glu380Val)
c.947A>T (p.Glu316Val)
c.838A>T
c.1097A>T (p.Glu366Val)
n.599A>T
n.713A>T
c.905A>T (p.Glu302Val)
c.722A>T (p.Glu241Val)
 dbSNP gnomAD v4
1g.77933367_77933369delCA1177626730NEXNc.1139_1141del (p.Glu380_Leu381delinsVal)
c.947_949del (p.Glu316_Leu317delinsVal)
c.838_840del
c.1097_1099del (p.Glu366_Leu367delinsVal)
n.599_601del
n.713_715del
c.905_907del (p.Glu302_Leu303delinsVal)
c.722_724del (p.Glu241_Leu242delinsVal)
 dbSNP gnomAD v4
1g.77933368_77933371delCA2574414089NEXNc.1140_1143del (p.Glu380AspfsTer2)
c.948_951del (p.Glu316AspfsTer2)
c.839_842del
c.1098_1101del (p.Glu366AspfsTer2)
n.600_603del
n.714_717del
c.906_909del (p.Glu302AspfsTer2)
c.723_726del (p.Glu241AspfsTer2)
 gnomAD v4
1g.77933368A>CCA340876853NEXNc.1140A>C (p.Glu380Asp)
c.948A>C (p.Glu316Asp)
c.839A>C
c.1098A>C (p.Glu366Asp)
n.600A>C
n.714A>C
c.906A>C (p.Glu302Asp)
c.723A>C (p.Glu241Asp)
1g.77933368A>GCA418572079NEXNc.1140A>G (p.Glu380=)
c.948A>G (p.Glu316=)
c.839A>G
c.1098A>G (p.Glu366=)
n.600A>G
n.714A>G
c.906A>G (p.Glu302=)
c.723A>G (p.Glu241=)
 ClinVar
1g.77933368A>TCA340876854NEXNc.1140A>T (p.Glu380Asp)
c.948A>T (p.Glu316Asp)
c.839A>T
c.1098A>T (p.Glu366Asp)
n.600A>T
n.714A>T
c.906A>T (p.Glu302Asp)
c.723A>T (p.Glu241Asp)
1g.77933372_77933374delCA2646274520NEXNc.1144_1146del (p.Leu382del)
c.952_954del (p.Leu318del)
c.843_845del
c.1102_1104del (p.Leu368del)
n.604_606del
n.718_720del
c.910_912del (p.Leu304del)
c.727_729del (p.Leu243del)
 gnomAD v4
1g.77933369T>ACA340876855NEXNc.1141T>A (p.Leu381Ile)
c.949T>A (p.Leu317Ile)
c.840T>A
c.1099T>A (p.Leu367Ile)
n.601T>A
n.715T>A
c.907T>A (p.Leu303Ile)
c.724T>A (p.Leu242Ile)
1g.77933369T>CCA418572080NEXNc.1141T>C (p.Leu381=)
c.949T>C (p.Leu317=)
c.840T>C
c.1099T>C (p.Leu367=)
n.601T>C
n.715T>C
c.907T>C (p.Leu303=)
c.724T>C (p.Leu242=)
1g.77933369T>GCA340876856NEXNc.1141T>G (p.Leu381Val)
c.949T>G (p.Leu317Val)
c.840T>G
c.1099T>G (p.Leu367Val)
n.601T>G
n.715T>G
c.907T>G (p.Leu303Val)
c.724T>G (p.Leu242Val)
 dbSNP gnomAD v4
1g.77933369T=CA1177626731NEXNc.1141T= (p.Leu381=)
c.949T= (p.Leu317=)
c.840T=
c.1099T= (p.Leu367=)
n.601T=
n.715T=
c.907T= (p.Leu303=)
c.724T= (p.Leu242=)
1g.77933370T>ACA340876857NEXNc.1142T>A (p.Leu381Ter)
c.950T>A (p.Leu317Ter)
c.841T>A
c.1100T>A (p.Leu367Ter)
n.602T>A
n.716T>A
c.908T>A (p.Leu303Ter)
c.725T>A (p.Leu242Ter)
1g.77933370T>CCA340876858NEXNc.1142T>C (p.Leu381Ser)
c.950T>C (p.Leu317Ser)
c.841T>C
c.1100T>C (p.Leu367Ser)
n.602T>C
n.716T>C
c.908T>C (p.Leu303Ser)
c.725T>C (p.Leu242Ser)
1g.77933370T>GCA340876860NEXNc.1142T>G (p.Leu381Ter)
c.950T>G (p.Leu317Ter)
c.841T>G
c.1100T>G (p.Leu367Ter)
n.602T>G
n.716T>G
c.908T>G (p.Leu303Ter)
c.725T>G (p.Leu242Ter)
1g.77933371A>CCA340876864NEXNc.1143A>C (p.Leu381Phe)
c.951A>C (p.Leu317Phe)
c.842A>C
c.1101A>C (p.Leu367Phe)
n.603A>C
n.717A>C
c.909A>C (p.Leu303Phe)
c.726A>C (p.Leu242Phe)
1g.77933371A>GCA418572081NEXNc.1143A>G (p.Leu381=)
c.951A>G (p.Leu317=)
c.842A>G
c.1101A>G (p.Leu367=)
n.603A>G
n.717A>G
c.909A>G (p.Leu303=)
c.726A>G (p.Leu242=)
 gnomAD v4
1g.77933371A>TCA340876867NEXNc.1143A>T (p.Leu381Phe)
c.951A>T (p.Leu317Phe)
c.842A>T
c.1101A>T (p.Leu367Phe)
n.603A>T
n.717A>T
c.909A>T (p.Leu303Phe)
c.726A>T (p.Leu242Phe)
 ClinVar dbSNP

Number of alleles fetched