Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.122506688C=CA1941477183HTRA1c.778-3C= (n.778-3C=)
c.460-3C= (n.460-3C=)
10g.122506688C>GCA2574697800HTRA1c.778-3C>G (n.778-3C>G)
c.460-3C>G (n.460-3C>G)
gnomAD v4
10g.122506688C>TCA660910306HTRA1c.778-3C>T (n.778-3C>T)
c.460-3C>T (n.460-3C>T)
dbSNP gnomAD v3 gnomAD v4
10g.122506689A>CCA378584809HTRA1c.778-2A>C (n.778-2A>C)
c.460-2A>C (n.460-2A>C)
10g.122506689A>GCA378584805HTRA1c.778-2A>G (n.778-2A>G)
c.460-2A>G (n.460-2A>G)
10g.122506689A>TCA378584806HTRA1c.778-2A>T (n.778-2A>T)
c.460-2A>T (n.460-2A>T)
10g.122506690G>ACA378584812HTRA1c.778-1G>A (n.778-1G>A)
c.460-1G>A (n.460-1G>A)
dbSNP gnomAD v2
10g.122506690G>CCA378584813HTRA1c.778-1G>C (n.778-1G>C)
c.460-1G>C (n.460-1G>C)
10g.122506690G=CA1941477184HTRA1c.778-1G= (n.778-1G=)
c.460-1G= (n.460-1G=)
10g.122506690G>TCA378584815HTRA1c.778-1G>T (n.778-1G>T)
c.460-1G>T (n.460-1G>T)
10g.122506691G>ACA378584824HTRA1c.778G>A (p.Gly260Ser)
c.460G>A (p.Gly154Ser)
c.1G>A (p.Gly1Ser)
COSMIC
10g.122506691G>CCA378584822HTRA1c.778G>C (p.Gly260Arg)
c.460G>C (p.Gly154Arg)
c.1G>C (p.Gly1Arg)
10g.122506691G>TCA378584819HTRA1c.778G>T (p.Gly260Cys)
c.460G>T (p.Gly154Cys)
c.1G>T (p.Gly1Cys)
gnomAD v4
10g.122506692G>ACA378584830HTRA1c.779G>A (p.Gly260Asp)
c.461G>A (p.Gly154Asp)
c.2G>A (p.Gly1Asp)
gnomAD v4
10g.122506692G>CCA378584832HTRA1c.779G>C (p.Gly260Ala)
c.461G>C (p.Gly154Ala)
c.2G>C (p.Gly1Ala)
10g.122506692G>TCA378584835HTRA1c.779G>T (p.Gly260Val)
c.461G>T (p.Gly154Val)
c.2G>T (p.Gly1Val)
10g.122506693C>ACA471666546HTRA1c.780C>A (p.Gly260=)
c.462C>A (p.Gly154=)
c.3C>A (p.Gly1=)
gnomAD v4
10g.122506693C>GCA471666545HTRA1c.780C>G (p.Gly260=)
c.462C>G (p.Gly154=)
c.3C>G (p.Gly1=)
10g.122506693C>TCA471666544HTRA1c.780C>T (p.Gly260=)
c.462C>T (p.Gly154=)
c.3C>T (p.Gly1=)
10g.122506694A>CCA378585190HTRA1c.781A>C (p.Lys261Gln)
c.463A>C (p.Lys155Gln)
c.4A>C (p.Lys2Gln)
10g.122506694A>GCA378585191HTRA1c.781A>G (p.Lys261Glu)
c.463A>G (p.Lys155Glu)
c.4A>G (p.Lys2Glu)
10g.122506694A>TCA378585192HTRA1c.781A>T (p.Lys261Ter)
c.463A>T (p.Lys155Ter)
c.4A>T (p.Lys2Ter)
10g.122506695A=CA1941477185HTRA1c.782A= (p.Lys261=)
c.464A= (p.Lys155=)
c.5A= (p.Lys2=)
10g.122506695A>CCA378585194HTRA1c.782A>C (p.Lys261Thr)
c.464A>C (p.Lys155Thr)
c.5A>C (p.Lys2Thr)
10g.122506695A>GCA5725930HTRA1c.782A>G (p.Lys261Arg)
c.464A>G (p.Lys155Arg)
c.5A>G (p.Lys2Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506695A>TCA378585195HTRA1c.782A>T (p.Lys261Met)
c.464A>T (p.Lys155Met)
c.5A>T (p.Lys2Met)
10g.122506696G>ACA471666553HTRA1c.783G>A (p.Lys261=)
c.465G>A (p.Lys155=)
c.6G>A (p.Lys2=)
10g.122506696G>CCA378585201HTRA1c.783G>C (p.Lys261Asn)
c.465G>C (p.Lys155Asn)
c.6G>C (p.Lys2Asn)
10g.122506696G>TCA378585203HTRA1c.783G>T (p.Lys261Asn)
c.465G>T (p.Lys155Asn)
c.6G>T (p.Lys2Asn)
10g.122506697C>ACA378585204HTRA1c.784C>A (p.Leu262Met)
c.466C>A (p.Leu156Met)
c.7C>A (p.Leu3Met)
gnomAD v4
10g.122506697C=CA1941477186HTRA1c.784C= (p.Leu262=)
c.466C= (p.Leu156=)
c.7C= (p.Leu3=)
10g.122506697C>GCA378585206HTRA1c.784C>G (p.Leu262Val)
c.466C>G (p.Leu156Val)
c.7C>G (p.Leu3Val)
10g.122506697C>TCA471666557HTRA1c.784C>T (p.Leu262=)
c.466C>T (p.Leu156=)
c.7C>T (p.Leu3=)
dbSNP gnomAD v4
10g.122506698T>ACA378585208HTRA1c.785T>A (p.Leu262Gln)
c.467T>A (p.Leu156Gln)
c.8T>A (p.Leu3Gln)
10g.122506698T>CCA378585209HTRA1c.785T>C (p.Leu262Pro)
c.467T>C (p.Leu156Pro)
c.8T>C (p.Leu3Pro)
10g.122506698T>GCA378585210HTRA1c.785T>G (p.Leu262Arg)
c.467T>G (p.Leu156Arg)
c.8T>G (p.Leu3Arg)
10g.122506699G>ACA471666562HTRA1c.786G>A (p.Leu262=)
c.468G>A (p.Leu156=)
c.9G>A (p.Leu3=)
10g.122506699G>CCA5725931HTRA1c.786G>C (p.Leu262=)
c.468G>C (p.Leu156=)
c.9G>C (p.Leu3=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506699G=CA1941477187HTRA1c.786G= (p.Leu262=)
c.468G= (p.Leu156=)
c.9G= (p.Leu3=)
10g.122506699G>TCA471666565HTRA1c.786G>T (p.Leu262=)
c.468G>T (p.Leu156=)
c.9G>T (p.Leu3=)
10g.122506700C>ACA378585212HTRA1c.787C>A (p.Pro263Thr)
c.469C>A (p.Pro157Thr)
c.10C>A (p.Pro4Thr)
10g.122506700C=CA1941477188HTRA1c.787C= (p.Pro263=)
c.469C= (p.Pro157=)
c.10C= (p.Pro4=)
10g.122506700C>GCA378585213HTRA1c.787C>G (p.Pro263Ala)
c.469C>G (p.Pro157Ala)
c.10C>G (p.Pro4Ala)
dbSNP
10g.122506700C>TCA378585216HTRA1c.787C>T (p.Pro263Ser)
c.469C>T (p.Pro157Ser)
c.10C>T (p.Pro4Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506701C>ACA378585226HTRA1c.788C>A (p.Pro263His)
c.470C>A (p.Pro157His)
c.11C>A (p.Pro4His)
10g.122506701C=CA1941477189HTRA1c.788C= (p.Pro263=)
c.470C= (p.Pro157=)
c.11C= (p.Pro4=)
10g.122506701C>GCA378585220HTRA1c.788C>G (p.Pro263Arg)
c.470C>G (p.Pro157Arg)
c.11C>G (p.Pro4Arg)
10g.122506701C>TCA5725932HTRA1c.788C>T (p.Pro263Leu)
c.470C>T (p.Pro157Leu)
c.11C>T (p.Pro4Leu)
dbSNP ExAC gnomAD v2
10g.122506702T>ACA471666572HTRA1c.789T>A (p.Pro263=)
c.471T>A (p.Pro157=)
c.12T>A (p.Pro4=)
gnomAD v4
10g.122506702T>CCA471666573HTRA1c.789T>C (p.Pro263=)
c.471T>C (p.Pro157=)
c.12T>C (p.Pro4=)
gnomAD v4
10g.122506702T>GCA471666574HTRA1c.789T>G (p.Pro263=)
c.471T>G (p.Pro157=)
c.12T>G (p.Pro4=)
10g.122506703G>ACA378585231HTRA1c.790G>A (p.Val264Ile)
c.472G>A (p.Val158Ile)
c.13G>A (p.Val5Ile)
gnomAD v4
10g.122506703G>CCA378585229HTRA1c.790G>C (p.Val264Leu)
c.472G>C (p.Val158Leu)
c.13G>C (p.Val5Leu)
gnomAD v4
10g.122506703G>TCA378585233HTRA1c.790G>T (p.Val264Phe)
c.472G>T (p.Val158Phe)
c.13G>T (p.Val5Phe)
10g.122506704T>ACA378585238HTRA1c.791T>A (p.Val264Asp)
c.473T>A (p.Val158Asp)
c.14T>A (p.Val5Asp)
10g.122506704T>CCA378585244HTRA1c.791T>C (p.Val264Ala)
c.473T>C (p.Val158Ala)
c.14T>C (p.Val5Ala)
10g.122506704T>GCA378585241HTRA1c.791T>G (p.Val264Gly)
c.473T>G (p.Val158Gly)
c.14T>G (p.Val5Gly)
10g.122506705C>ACA471666583HTRA1c.792C>A (p.Val264=)
c.474C>A (p.Val158=)
c.15C>A (p.Val5=)
10g.122506705C>GCA471666585HTRA1c.792C>G (p.Val264=)
c.474C>G (p.Val158=)
c.15C>G (p.Val5=)
10g.122506705C>TCA471666586HTRA1c.792C>T (p.Val264=)
c.474C>T (p.Val158=)
c.15C>T (p.Val5=)
10g.122506706C>ACA378585249HTRA1c.793C>A (p.Leu265Met)
c.475C>A (p.Leu159Met)
c.16C>A (p.Leu6Met)
10g.122506706C>GCA378585251HTRA1c.793C>G (p.Leu265Val)
c.475C>G (p.Leu159Val)
c.16C>G (p.Leu6Val)
10g.122506706C>TCA471666590HTRA1c.793C>T (p.Leu265=)
c.475C>T (p.Leu159=)
c.16C>T (p.Leu6=)
10g.122506707T>ACA378585254HTRA1c.794T>A (p.Leu265Gln)
c.476T>A (p.Leu159Gln)
c.17T>A (p.Leu6Gln)
dbSNP
10g.122506707T>CCA378585255HTRA1c.794T>C (p.Leu265Pro)
c.476T>C (p.Leu159Pro)
c.17T>C (p.Leu6Pro)
10g.122506707T>GCA378585259HTRA1c.794T>G (p.Leu265Arg)
c.476T>G (p.Leu159Arg)
c.17T>G (p.Leu6Arg)
10g.122506707T=CA1941477190HTRA1c.794T= (p.Leu265=)
c.476T= (p.Leu159=)
c.17T= (p.Leu6=)
10g.122506708G>ACA471666594HTRA1c.795G>A (p.Leu265=)
c.477G>A (p.Leu159=)
c.18G>A (p.Leu6=)
gnomAD v4
10g.122506708G>CCA471666597HTRA1c.795G>C (p.Leu265=)
c.477G>C (p.Leu159=)
c.18G>C (p.Leu6=)
10g.122506708G>TCA471666593HTRA1c.795G>T (p.Leu265=)
c.477G>T (p.Leu159=)
c.18G>T (p.Leu6=)
10g.122506709C>ACA378585261HTRA1c.796C>A (p.Leu266Met)
c.478C>A (p.Leu160Met)
c.19C>A (p.Leu7Met)
10g.122506709C>GCA378585265HTRA1c.796C>G (p.Leu266Val)
c.478C>G (p.Leu160Val)
c.19C>G (p.Leu7Val)
gnomAD v4
10g.122506709C>TCA471666601HTRA1c.796C>T (p.Leu266=)
c.478C>T (p.Leu160=)
c.19C>T (p.Leu7=)
10g.122506710T>ACA378585267HTRA1c.797T>A (p.Leu266Gln)
c.479T>A (p.Leu160Gln)
c.20T>A (p.Leu7Gln)
10g.122506710T>CCA378585270HTRA1c.797T>C (p.Leu266Pro)
c.479T>C (p.Leu160Pro)
c.20T>C (p.Leu7Pro)
10g.122506710T>GCA378585272HTRA1c.797T>G (p.Leu266Arg)
c.479T>G (p.Leu160Arg)
c.20T>G (p.Leu7Arg)
10g.122506711G>ACA471666608HTRA1c.798G>A (p.Leu266=)
c.480G>A (p.Leu160=)
c.21G>A (p.Leu7=)
10g.122506711G>CCA471666605HTRA1c.798G>C (p.Leu266=)
c.480G>C (p.Leu160=)
c.21G>C (p.Leu7=)
10g.122506711G>TCA471666607HTRA1c.798G>T (p.Leu266=)
c.480G>T (p.Leu160=)
c.21G>T (p.Leu7=)
10g.122506712C>ACA378585279HTRA1c.799C>A (p.Leu267Ile)
c.481C>A (p.Leu161Ile)
c.22C>A (p.Leu8Ile)
COSMIC
10g.122506712C=CA1941477191HTRA1c.799C= (p.Leu267=)
c.481C= (p.Leu161=)
c.22C= (p.Leu8=)
10g.122506712C>GCA378585276HTRA1c.799C>G (p.Leu267Val)
c.481C>G (p.Leu161Val)
c.22C>G (p.Leu8Val)
10g.122506712C>TCA378585274HTRA1c.799C>T (p.Leu267Phe)
c.481C>T (p.Leu161Phe)
c.22C>T (p.Leu8Phe)
dbSNP
10g.122506713T>ACA378585283HTRA1c.800T>A (p.Leu267His)
c.482T>A (p.Leu161His)
c.23T>A (p.Leu8His)
10g.122506713T>CCA378585284HTRA1c.800T>C (p.Leu267Pro)
c.482T>C (p.Leu161Pro)
c.23T>C (p.Leu8Pro)
10g.122506713T>GCA378585286HTRA1c.800T>G (p.Leu267Arg)
c.482T>G (p.Leu161Arg)
c.23T>G (p.Leu8Arg)
10g.122506714T>ACA471666611HTRA1c.801T>A (p.Leu267=)
c.483T>A (p.Leu161=)
c.24T>A (p.Leu8=)
10g.122506714T>CCA471666614HTRA1c.801T>C (p.Leu267=)
c.483T>C (p.Leu161=)
c.24T>C (p.Leu8=)
10g.122506714T>GCA471666613HTRA1c.801T>G (p.Leu267=)
c.483T>G (p.Leu161=)
c.24T>G (p.Leu8=)
10g.122506715G>ACA378585290HTRA1c.802G>A (p.Gly268Ser)
c.484G>A (p.Gly162Ser)
c.25G>A (p.Gly9Ser)
10g.122506715G>CCA378585292HTRA1c.802G>C (p.Gly268Arg)
c.484G>C (p.Gly162Arg)
c.25G>C (p.Gly9Arg)
10g.122506715G=CA1941477192HTRA1c.802G= (p.Gly268=)
c.484G= (p.Gly162=)
c.25G= (p.Gly9=)
10g.122506715G>TCA378585295HTRA1c.802G>T (p.Gly268Cys)
c.484G>T (p.Gly162Cys)
c.25G>T (p.Gly9Cys)
dbSNP
10g.122506716G>ACA378585297HTRA1c.803G>A (p.Gly268Asp)
c.485G>A (p.Gly162Asp)
c.26G>A (p.Gly9Asp)
10g.122506716G>CCA378585300HTRA1c.803G>C (p.Gly268Ala)
c.485G>C (p.Gly162Ala)
c.26G>C (p.Gly9Ala)
10g.122506716G>TCA378585303HTRA1c.803G>T (p.Gly268Val)
c.485G>T (p.Gly162Val)
c.26G>T (p.Gly9Val)
10g.122506717C>ACA471666620HTRA1c.804C>A (p.Gly268=)
c.486C>A (p.Gly162=)
c.27C>A (p.Gly9=)
10g.122506717C>GCA471666622HTRA1c.804C>G (p.Gly268=)
c.486C>G (p.Gly162=)
c.27C>G (p.Gly9=)
10g.122506717C>TCA471666624HTRA1c.804C>T (p.Gly268=)
c.486C>T (p.Gly162=)
c.27C>T (p.Gly9=)
10g.122506718C>ACA5725934HTRA1c.805C>A (p.Arg269Ser)
c.487C>A (p.Arg163Ser)
c.28C>A (p.Arg10Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506718C=CA1941477193HTRA1c.805C= (p.Arg269=)
c.487C= (p.Arg163=)
c.28C= (p.Arg10=)
10g.122506718C>GCA378585306HTRA1c.805C>G (p.Arg269Gly)
c.487C>G (p.Arg163Gly)
c.28C>G (p.Arg10Gly)
dbSNP gnomAD v4
10g.122506718C>TCA5725933HTRA1c.805C>T (p.Arg269Cys)
c.487C>T (p.Arg163Cys)
c.28C>T (p.Arg10Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506719G>ACA5725935HTRA1c.806G>A (p.Arg269His)
c.488G>A (p.Arg163His)
c.29G>A (p.Arg10His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506719G>CCA378585314HTRA1c.806G>C (p.Arg269Pro)
c.488G>C (p.Arg163Pro)
c.29G>C (p.Arg10Pro)
10g.122506719G=CA1941477194HTRA1c.806G= (p.Arg269=)
c.488G= (p.Arg163=)
c.29G= (p.Arg10=)
10g.122506719G>TCA378585310HTRA1c.806G>T (p.Arg269Leu)
c.488G>T (p.Arg163Leu)
c.29G>T (p.Arg10Leu)
10g.122506719dupCA2695212889HTRA1c.806dup (p.Ser270LeufsTer?)
c.488dup (p.Ser164LeufsTer?)
c.29dup (p.Ser11LeufsTer?)
10g.122506720C>ACA471666633HTRA1c.807C>A (p.Arg269=)
c.489C>A (p.Arg163=)
c.30C>A (p.Arg10=)
10g.122506720C=CA1941477195HTRA1c.807C= (p.Arg269=)
c.489C= (p.Arg163=)
c.30C= (p.Arg10=)
10g.122506720C>GCA471666635HTRA1c.807C>G (p.Arg269=)
c.489C>G (p.Arg163=)
c.30C>G (p.Arg10=)
10g.122506720C>TCA471666637HTRA1c.807C>T (p.Arg269=)
c.489C>T (p.Arg163=)
c.30C>T (p.Arg10=)
dbSNP gnomAD v2 gnomAD v4
10g.122506721T>ACA378585316HTRA1c.808T>A (p.Ser270Thr)
c.490T>A (p.Ser164Thr)
c.31T>A (p.Ser11Thr)
10g.122506721T>CCA378585319HTRA1c.808T>C (p.Ser270Pro)
c.490T>C (p.Ser164Pro)
c.31T>C (p.Ser11Pro)
10g.122506721T>GCA378585320HTRA1c.808T>G (p.Ser270Ala)
c.490T>G (p.Ser164Ala)
c.31T>G (p.Ser11Ala)
10g.122506722C>ACA378585322HTRA1c.809C>A (p.Ser270Tyr)
c.491C>A (p.Ser164Tyr)
c.32C>A (p.Ser11Tyr)
ClinVar
10g.122506722C=CA1941477196HTRA1c.809C= (p.Ser270=)
c.491C= (p.Ser164=)
c.32C= (p.Ser11=)
10g.122506722C>GCA378585325HTRA1c.809C>G (p.Ser270Cys)
c.491C>G (p.Ser164Cys)
c.32C>G (p.Ser11Cys)
10g.122506722C>TCA378585327HTRA1c.809C>T (p.Ser270Phe)
c.491C>T (p.Ser164Phe)
c.32C>T (p.Ser11Phe)
ClinVar dbSNP gnomAD v4
10g.122506723C>ACA471666645HTRA1c.810C>A (p.Ser270=)
c.492C>A (p.Ser164=)
c.33C>A (p.Ser11=)
10g.122506723C>GCA471666647HTRA1c.810C>G (p.Ser270=)
c.492C>G (p.Ser164=)
c.33C>G (p.Ser11=)
10g.122506723C>TCA471666649HTRA1c.810C>T (p.Ser270=)
c.492C>T (p.Ser164=)
c.33C>T (p.Ser11=)
10g.122506724T>ACA378585331HTRA1c.811T>A (p.Ser271Thr)
c.493T>A (p.Ser165Thr)
c.34T>A (p.Ser12Thr)
dbSNP
10g.122506724T>CCA378585333HTRA1c.811T>C (p.Ser271Pro)
c.493T>C (p.Ser165Pro)
c.34T>C (p.Ser12Pro)
gnomAD v4
10g.122506724T>GCA378585335HTRA1c.811T>G (p.Ser271Ala)
c.493T>G (p.Ser165Ala)
c.34T>G (p.Ser12Ala)
10g.122506724T=CA1941477197HTRA1c.811T= (p.Ser271=)
c.493T= (p.Ser165=)
c.34T= (p.Ser12=)
10g.122506725C>ACA378585338HTRA1c.812C>A (p.Ser271Ter)
c.494C>A (p.Ser165Ter)
c.35C>A (p.Ser12Ter)
10g.122506725C=CA1941477198HTRA1c.812C= (p.Ser271=)
c.494C= (p.Ser165=)
c.35C= (p.Ser12=)
10g.122506725C>GCA378585341HTRA1c.812C>G (p.Ser271Ter)
c.494C>G (p.Ser165Ter)
c.35C>G (p.Ser12Ter)
10g.122506725C>TCA214411222HTRA1c.812C>T (p.Ser271Leu)
c.494C>T (p.Ser165Leu)
c.35C>T (p.Ser12Leu)
dbSNP COSMIC
10g.122506726A>CCA471666658HTRA1c.813A>C (p.Ser271=)
c.495A>C (p.Ser165=)
c.36A>C (p.Ser12=)
10g.122506726A>GCA471666660HTRA1c.813A>G (p.Ser271=)
c.495A>G (p.Ser165=)
c.36A>G (p.Ser12=)
10g.122506726A>TCA471666662HTRA1c.813A>T (p.Ser271=)
c.495A>T (p.Ser165=)
c.36A>T (p.Ser12=)
10g.122506727G>ACA378585346HTRA1c.814G>A (p.Glu272Lys)
c.496G>A (p.Glu166Lys)
c.37G>A (p.Glu13Lys)
10g.122506727G>CCA378585350HTRA1c.814G>C (p.Glu272Gln)
c.496G>C (p.Glu166Gln)
c.37G>C (p.Glu13Gln)
10g.122506727G>TCA378585344HTRA1c.814G>T (p.Glu272Ter)
c.496G>T (p.Glu166Ter)
c.37G>T (p.Glu13Ter)
10g.122506728A=CA1941477199HTRA1c.815A= (p.Glu272=)
c.497A= (p.Glu166=)
c.38A= (p.Glu13=)
10g.122506728A>CCA378585351HTRA1c.815A>C (p.Glu272Ala)
c.497A>C (p.Glu166Ala)
c.38A>C (p.Glu13Ala)
10g.122506728A>GCA378585352HTRA1c.815A>G (p.Glu272Gly)
c.497A>G (p.Glu166Gly)
c.38A>G (p.Glu13Gly)
dbSNP gnomAD v4
10g.122506728A>TCA5725936HTRA1c.815A>T (p.Glu272Val)
c.497A>T (p.Glu166Val)
c.38A>T (p.Glu13Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506729G>ACA471666671HTRA1c.816G>A (p.Glu272=)
c.498G>A (p.Glu166=)
c.39G>A (p.Glu13=)
10g.122506729G>CCA378585360HTRA1c.816G>C (p.Glu272Asp)
c.498G>C (p.Glu166Asp)
c.39G>C (p.Glu13Asp)
10g.122506729G>TCA378585361HTRA1c.816G>T (p.Glu272Asp)
c.498G>T (p.Glu166Asp)
c.39G>T (p.Glu13Asp)
10g.122506730C>ACA378585366HTRA1c.817C>A (p.Leu273Met)
c.499C>A (p.Leu167Met)
c.40C>A (p.Leu14Met)
10g.122506730C>GCA378585364HTRA1c.817C>G (p.Leu273Val)
c.499C>G (p.Leu167Val)
c.40C>G (p.Leu14Val)
10g.122506730C>TCA471666675HTRA1c.817C>T (p.Leu273=)
c.499C>T (p.Leu167=)
c.40C>T (p.Leu14=)
10g.122506731T>ACA378585368HTRA1c.818T>A (p.Leu273Gln)
c.500T>A (p.Leu167Gln)
c.41T>A (p.Leu14Gln)
10g.122506731T>CCA378585369HTRA1c.818T>C (p.Leu273Pro)
c.500T>C (p.Leu167Pro)
c.41T>C (p.Leu14Pro)
10g.122506731T>GCA378585371HTRA1c.818T>G (p.Leu273Arg)
c.500T>G (p.Leu167Arg)
c.41T>G (p.Leu14Arg)
10g.122506732G>ACA5725937HTRA1c.819G>A (p.Leu273=)
c.501G>A (p.Leu167=)
c.42G>A (p.Leu14=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506732G>CCA471666682HTRA1c.819G>C (p.Leu273=)
c.501G>C (p.Leu167=)
c.42G>C (p.Leu14=)
10g.122506732G=CA1941477200HTRA1c.819G= (p.Leu273=)
c.501G= (p.Leu167=)
c.42G= (p.Leu14=)
10g.122506732G>TCA471666684HTRA1c.819G>T (p.Leu273=)
c.501G>T (p.Leu167=)
c.42G>T (p.Leu14=)
10g.122506733C>ACA471666685HTRA1c.820C>A (p.Arg274=)
c.502C>A (p.Arg168=)
c.43C>A (p.Arg15=)
10g.122506733C=CA1941477201HTRA1c.820C= (p.Arg274=)
c.502C= (p.Arg168=)
c.43C= (p.Arg15=)
10g.122506733C>GCA378585374HTRA1c.820C>G (p.Arg274Gly)
c.502C>G (p.Arg168Gly)
c.43C>G (p.Arg15Gly)
ClinVar dbSNP
10g.122506733C>TCA5725938HTRA1c.820C>T (p.Arg274Trp)
c.502C>T (p.Arg168Trp)
c.43C>T (p.Arg15Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506734G>ACA345923HTRA1c.821G>A (p.Arg274Gln)
c.503G>A (p.Arg168Gln)
c.44G>A (p.Arg15Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506734G>CCA378585381HTRA1c.821G>C (p.Arg274Pro)
c.503G>C (p.Arg168Pro)
c.44G>C (p.Arg15Pro)
10g.122506734G=CA1941477202HTRA1c.821G= (p.Arg274=)
c.503G= (p.Arg168=)
c.44G= (p.Arg15=)
10g.122506734G>TCA378585379HTRA1c.821G>T (p.Arg274Leu)
c.503G>T (p.Arg168Leu)
c.44G>T (p.Arg15Leu)
10g.122506735G>ACA471666691HTRA1c.822G>A (p.Arg274=)
c.504G>A (p.Arg168=)
c.45G>A (p.Arg15=)
10g.122506735G>CCA471666692HTRA1c.822G>C (p.Arg274=)
c.504G>C (p.Arg168=)
c.45G>C (p.Arg15=)
10g.122506735G>TCA471666697HTRA1c.822G>T (p.Arg274=)
c.504G>T (p.Arg168=)
c.45G>T (p.Arg15=)
gnomAD v4
10g.122506736C>ACA378585382HTRA1c.823C>A (p.Pro275Thr)
c.505C>A (p.Pro169Thr)
c.46C>A (p.Pro16Thr)
10g.122506736C=CA1941477203HTRA1c.823C= (p.Pro275=)
c.505C= (p.Pro169=)
c.46C= (p.Pro16=)
10g.122506736C>GCA378585383HTRA1c.823C>G (p.Pro275Ala)
c.505C>G (p.Pro169Ala)
c.46C>G (p.Pro16Ala)
10g.122506736C>TCA378585384HTRA1c.823C>T (p.Pro275Ser)
c.505C>T (p.Pro169Ser)
c.46C>T (p.Pro16Ser)
dbSNP
10g.122506737C>ACA378585386HTRA1c.824C>A (p.Pro275Gln)
c.506C>A (p.Pro169Gln)
c.47C>A (p.Pro16Gln)
10g.122506737C=CA1941477204HTRA1c.824C= (p.Pro275=)
c.506C= (p.Pro169=)
c.47C= (p.Pro16=)
10g.122506737C>GCA378585391HTRA1c.824C>G (p.Pro275Arg)
c.506C>G (p.Pro169Arg)
c.47C>G (p.Pro16Arg)
10g.122506737C>TCA5725939HTRA1c.824C>T (p.Pro275Leu)
c.506C>T (p.Pro169Leu)
c.47C>T (p.Pro16Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506738G>ACA5725940HTRA1c.825G>A (p.Pro275=)
c.507G>A (p.Pro169=)
c.48G>A (p.Pro16=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506738G>CCA471666706HTRA1c.825G>C (p.Pro275=)
c.507G>C (p.Pro169=)
c.48G>C (p.Pro16=)
10g.122506738G=CA1941477205HTRA1c.825G= (p.Pro275=)
c.507G= (p.Pro169=)
c.48G= (p.Pro16=)
10g.122506738G>TCA471666709HTRA1c.825G>T (p.Pro275=)
c.507G>T (p.Pro169=)
c.48G>T (p.Pro16=)
10g.122506739G>ACA378585397HTRA1c.826G>A (p.Gly276Arg)
c.508G>A (p.Gly170Arg)
c.49G>A (p.Gly17Arg)
COSMIC
10g.122506739G>CCA378585398HTRA1c.826G>C (p.Gly276Arg)
c.508G>C (p.Gly170Arg)
c.49G>C (p.Gly17Arg)
10g.122506739G>TCA378585401HTRA1c.826G>T (p.Gly276Ter)
c.508G>T (p.Gly170Ter)
c.49G>T (p.Gly17Ter)
10g.122506740G>ACA378585405HTRA1c.827G>A (p.Gly276Glu)
c.509G>A (p.Gly170Glu)
c.50G>A (p.Gly17Glu)
10g.122506740G>CCA378585406HTRA1c.827G>C (p.Gly276Ala)
c.509G>C (p.Gly170Ala)
c.50G>C (p.Gly17Ala)
ClinVar dbSNP
10g.122506740G=CA1941477206HTRA1c.827G= (p.Gly276=)
c.509G= (p.Gly170=)
c.50G= (p.Gly17=)
10g.122506740G>TCA378585409HTRA1c.827G>T (p.Gly276Val)
c.509G>T (p.Gly170Val)
c.50G>T (p.Gly17Val)
10g.122506743_122506744delCA2695212890HTRA1c.830_831del (p.Glu277ValfsTer?)
c.512_513del (p.Glu171ValfsTer?)
c.53_54del (p.Glu18ValfsTer?)
10g.122506741A=CA1941477207HTRA1c.828A= (p.Gly276=)
c.510A= (p.Gly170=)
c.51A= (p.Gly17=)
10g.122506741A>CCA471666717HTRA1c.828A>C (p.Gly276=)
c.510A>C (p.Gly170=)
c.51A>C (p.Gly17=)
10g.122506741A>GCA471666718HTRA1c.828A>G (p.Gly276=)
c.510A>G (p.Gly170=)
c.51A>G (p.Gly17=)
dbSNP
10g.122506741A>TCA471666720HTRA1c.828A>T (p.Gly276=)
c.510A>T (p.Gly170=)
c.51A>T (p.Gly17=)
10g.122506742G>ACA378585416HTRA1c.829G>A (p.Glu277Lys)
c.511G>A (p.Glu171Lys)
c.52G>A (p.Glu18Lys)
10g.122506742G>CCA378585415HTRA1c.829G>C (p.Glu277Gln)
c.511G>C (p.Glu171Gln)
c.52G>C (p.Glu18Gln)
COSMIC
10g.122506742G>TCA378585413HTRA1c.829G>T (p.Glu277Ter)
c.511G>T (p.Glu171Ter)
c.52G>T (p.Glu18Ter)
10g.122506743delCA2695212891HTRA1c.830del (p.Glu277GlyfsTer21)
c.512del (p.Glu171GlyfsTer21)
c.53del (p.Glu18GlyfsTer21)
10g.122506743A>CCA378585419HTRA1c.830A>C (p.Glu277Ala)
c.512A>C (p.Glu171Ala)
c.53A>C (p.Glu18Ala)
10g.122506743A>GCA378585420HTRA1c.830A>G (p.Glu277Gly)
c.512A>G (p.Glu171Gly)
c.53A>G (p.Glu18Gly)
10g.122506743A>TCA378585423HTRA1c.830A>T (p.Glu277Val)
c.512A>T (p.Glu171Val)
c.53A>T (p.Glu18Val)
10g.122506744G>ACA471666729HTRA1c.831G>A (p.Glu277=)
c.513G>A (p.Glu171=)
c.54G>A (p.Glu18=)
10g.122506744G>CCA378585426HTRA1c.831G>C (p.Glu277Asp)
c.513G>C (p.Glu171Asp)
c.54G>C (p.Glu18Asp)
10g.122506744G>TCA378585428HTRA1c.831G>T (p.Glu277Asp)
c.513G>T (p.Glu171Asp)
c.54G>T (p.Glu18Asp)
10g.122506744_122506745delinsGTCA1941477208HTRA1c.831_832delinsGT (p.Glu277=)
c.513_514delinsGT (p.Glu171=)
c.54_55delinsGT (p.Glu18=)
10g.122506745T>ACA378585430HTRA1c.832T>A (p.Phe278Ile)
c.514T>A (p.Phe172Ile)
c.55T>A (p.Phe19Ile)
10g.122506745T>CCA5725941HTRA1c.832T>C (p.Phe278Leu)
c.514T>C (p.Phe172Leu)
c.55T>C (p.Phe19Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506745T>GCA378585434HTRA1c.832T>G (p.Phe278Val)
c.514T>G (p.Phe172Val)
c.55T>G (p.Phe19Val)
dbSNP
10g.122506745T=CA1941477209HTRA1c.832T= (p.Phe278=)
c.514T= (p.Phe172=)
c.55T= (p.Phe19=)
10g.122506746delCA596579032HTRA1c.833del (p.Phe278SerfsTer20)
c.515del (p.Phe172SerfsTer20)
c.56del (p.Phe19SerfsTer20)
dbSNP gnomAD v2
10g.122506746T>ACA378585438HTRA1c.833T>A (p.Phe278Tyr)
c.515T>A (p.Phe172Tyr)
c.56T>A (p.Phe19Tyr)
10g.122506746T>CCA378585440HTRA1c.833T>C (p.Phe278Ser)
c.515T>C (p.Phe172Ser)
c.56T>C (p.Phe19Ser)
10g.122506746T>GCA378585443HTRA1c.833T>G (p.Phe278Cys)
c.515T>G (p.Phe172Cys)
c.56T>G (p.Phe19Cys)
10g.122506747C>ACA378585444HTRA1c.834C>A (p.Phe278Leu)
c.516C>A (p.Phe172Leu)
c.57C>A (p.Phe19Leu)
gnomAD v4
10g.122506747C=CA1941477210HTRA1c.834C= (p.Phe278=)
c.516C= (p.Phe172=)
c.57C= (p.Phe19=)
10g.122506747C>GCA378585447HTRA1c.834C>G (p.Phe278Leu)
c.516C>G (p.Phe172Leu)
c.57C>G (p.Phe19Leu)
10g.122506747C>TCA5725942HTRA1c.834C>T (p.Phe278=)
c.516C>T (p.Phe172=)
c.57C>T (p.Phe19=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506748G>ACA5725943HTRA1c.835G>A (p.Val279Met)
c.517G>A (p.Val173Met)
c.58G>A (p.Val20Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506748G>CCA378585452HTRA1c.835G>C (p.Val279Leu)
c.517G>C (p.Val173Leu)
c.58G>C (p.Val20Leu)
gnomAD v4
10g.122506748G=CA1941477211HTRA1c.835G= (p.Val279=)
c.517G= (p.Val173=)
c.58G= (p.Val20=)
10g.122506748G>TCA378585449HTRA1c.835G>T (p.Val279Leu)
c.517G>T (p.Val173Leu)
c.58G>T (p.Val20Leu)
gnomAD v4
10g.122506749T>ACA378585456HTRA1c.836T>A (p.Val279Glu)
c.518T>A (p.Val173Glu)
c.59T>A (p.Val20Glu)
10g.122506749T>CCA378585457HTRA1c.836T>C (p.Val279Ala)
c.518T>C (p.Val173Ala)
c.59T>C (p.Val20Ala)
10g.122506749T>GCA378585458HTRA1c.836T>G (p.Val279Gly)
c.518T>G (p.Val173Gly)
c.59T>G (p.Val20Gly)
10g.122506750G>ACA5725944HTRA1c.837G>A (p.Val279=)
c.519G>A (p.Val173=)
c.60G>A (p.Val20=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506750G>CCA471666745HTRA1c.837G>C (p.Val279=)
c.519G>C (p.Val173=)
c.60G>C (p.Val20=)
10g.122506750G=CA1941477212HTRA1c.837G= (p.Val279=)
c.519G= (p.Val173=)
c.60G= (p.Val20=)
10g.122506750G>TCA471666744HTRA1c.837G>T (p.Val279=)
c.519G>T (p.Val173=)
c.60G>T (p.Val20=)
10g.122506751G>ACA5725945HTRA1c.838G>A (p.Val280Ile)
c.520G>A (p.Val174Ile)
c.61G>A (p.Val21Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506751G>CCA378585464HTRA1c.838G>C (p.Val280Leu)
c.520G>C (p.Val174Leu)
c.61G>C (p.Val21Leu)
dbSNP
10g.122506751G=CA1941477213HTRA1c.838G= (p.Val280=)
c.520G= (p.Val174=)
c.61G= (p.Val21=)
10g.122506751G>TCA378585466HTRA1c.838G>T (p.Val280Phe)
c.520G>T (p.Val174Phe)
c.61G>T (p.Val21Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506752T>ACA378585467HTRA1c.839T>A (p.Val280Asp)
c.521T>A (p.Val174Asp)
c.62T>A (p.Val21Asp)
10g.122506752T>CCA378585469HTRA1c.839T>C (p.Val280Ala)
c.521T>C (p.Val174Ala)
c.62T>C (p.Val21Ala)
10g.122506752T>GCA378585471HTRA1c.839T>G (p.Val280Gly)
c.521T>G (p.Val174Gly)
c.62T>G (p.Val21Gly)
10g.122506755_122506760dupCA2697558800HTRA1c.842_847dup (p.Ile282_Gly283insAlaIle)
c.524_529dup (p.Ile176_Gly177insAlaIle)
c.65_70dup (p.Ile23_Gly24insAlaIle)
ClinVar
10g.122506753C>ACA5725947HTRA1c.840C>A (p.Val280=)
c.522C>A (p.Val174=)
c.63C>A (p.Val21=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506753C=CA1941477214HTRA1c.840C= (p.Val280=)
c.522C= (p.Val174=)
c.63C= (p.Val21=)
10g.122506753C>GCA471666753HTRA1c.840C>G (p.Val280=)
c.522C>G (p.Val174=)
c.63C>G (p.Val21=)
dbSNP gnomAD v2 gnomAD v4
10g.122506753C>TCA5725946HTRA1c.840C>T (p.Val280=)
c.522C>T (p.Val174=)
c.63C>T (p.Val21=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506754G>ACA5725948HTRA1c.841G>A (p.Ala281Thr)
c.523G>A (p.Ala175Thr)
c.64G>A (p.Ala22Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506754G>CCA378585474HTRA1c.841G>C (p.Ala281Pro)
c.523G>C (p.Ala175Pro)
c.64G>C (p.Ala22Pro)
10g.122506754G=CA1941477215HTRA1c.841G= (p.Ala281=)
c.523G= (p.Ala175=)
c.64G= (p.Ala22=)
10g.122506754G>TCA214411292HTRA1c.841G>T (p.Ala281Ser)
c.523G>T (p.Ala175Ser)
c.64G>T (p.Ala22Ser)
dbSNP gnomAD v2 gnomAD v4
10g.122506755C>ACA378585476HTRA1c.842C>A (p.Ala281Asp)
c.524C>A (p.Ala175Asp)
c.65C>A (p.Ala22Asp)
10g.122506755C>GCA378585477HTRA1c.842C>G (p.Ala281Gly)
c.524C>G (p.Ala175Gly)
c.65C>G (p.Ala22Gly)
10g.122506755C>TCA378585479HTRA1c.842C>T (p.Ala281Val)
c.524C>T (p.Ala175Val)
c.65C>T (p.Ala22Val)
10g.122506756C>ACA471666762HTRA1c.843C>A (p.Ala281=)
c.525C>A (p.Ala175=)
c.66C>A (p.Ala22=)
10g.122506756C=CA1941477216HTRA1c.843C= (p.Ala281=)
c.525C= (p.Ala175=)
c.66C= (p.Ala22=)
10g.122506756C>GCA471666764HTRA1c.843C>G (p.Ala281=)
c.525C>G (p.Ala175=)
c.66C>G (p.Ala22=)
10g.122506756C>TCA5725949HTRA1c.843C>T (p.Ala281=)
c.525C>T (p.Ala175=)
c.66C>T (p.Ala22=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506757A=CA1941477217HTRA1c.844A= (p.Ile282=)
c.526A= (p.Ile176=)
c.67A= (p.Ile23=)
10g.122506757A>CCA378585482HTRA1c.844A>C (p.Ile282Leu)
c.526A>C (p.Ile176Leu)
c.67A>C (p.Ile23Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506757A>GCA378585485HTRA1c.844A>G (p.Ile282Val)
c.526A>G (p.Ile176Val)
c.67A>G (p.Ile23Val)
gnomAD v4
10g.122506757A>TCA378585486HTRA1c.844A>T (p.Ile282Phe)
c.526A>T (p.Ile176Phe)
c.67A>T (p.Ile23Phe)
10g.122506758T>ACA378585487HTRA1c.845T>A (p.Ile282Asn)
c.527T>A (p.Ile176Asn)
c.68T>A (p.Ile23Asn)
10g.122506758T>CCA5725950HTRA1c.845T>C (p.Ile282Thr)
c.527T>C (p.Ile176Thr)
c.68T>C (p.Ile23Thr)
dbSNP ExAC gnomAD v2
10g.122506758T>GCA378585489HTRA1c.845T>G (p.Ile282Ser)
c.527T>G (p.Ile176Ser)
c.68T>G (p.Ile23Ser)
10g.122506758T=CA1941477218HTRA1c.845T= (p.Ile282=)
c.527T= (p.Ile176=)
c.68T= (p.Ile23=)
10g.122506759C>ACA5725952HTRA1c.846C>A (p.Ile282=)
c.528C>A (p.Ile176=)
c.69C>A (p.Ile23=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506759C=CA1941477219HTRA1c.846C= (p.Ile282=)
c.528C= (p.Ile176=)
c.69C= (p.Ile23=)
10g.122506759C>GCA378585493HTRA1c.846C>G (p.Ile282Met)
c.528C>G (p.Ile176Met)
c.69C>G (p.Ile23Met)
gnomAD v4
10g.122506759C>TCA5725951HTRA1c.846C>T (p.Ile282=)
c.528C>T (p.Ile176=)
c.69C>T (p.Ile23=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506760G>ACA5725953HTRA1c.847G>A (p.Gly283Arg)
c.529G>A (p.Gly177Arg)
c.70G>A (p.Gly24Arg)
ClinVar dbSNP ExAC gnomAD v2 COSMIC
10g.122506760G>CCA378585498HTRA1c.847G>C (p.Gly283Arg)
c.529G>C (p.Gly177Arg)
c.70G>C (p.Gly24Arg)
gnomAD v4
10g.122506760G=CA1941477220HTRA1c.847G= (p.Gly283=)
c.529G= (p.Gly177=)
c.70G= (p.Gly24=)
10g.122506760G>TCA378585495HTRA1c.847G>T (p.Gly283Ter)
c.529G>T (p.Gly177Ter)
c.70G>T (p.Gly24Ter)
dbSNP
10g.122506761G>ACA378585501HTRA1c.848G>A (p.Gly283Glu)
c.530G>A (p.Gly177Glu)
c.71G>A (p.Gly24Glu)
10g.122506761G>CCA5725954HTRA1c.848G>C (p.Gly283Ala)
c.530G>C (p.Gly177Ala)
c.71G>C (p.Gly24Ala)
dbSNP ExAC gnomAD v2
10g.122506761G=CA1941477221HTRA1c.848G= (p.Gly283=)
c.530G= (p.Gly177=)
c.71G= (p.Gly24=)
10g.122506761G>TCA378585503HTRA1c.848G>T (p.Gly283Val)
c.530G>T (p.Gly177Val)
c.71G>T (p.Gly24Val)
10g.122506762A=CA1941477222HTRA1c.849A= (p.Gly283=)
c.531A= (p.Gly177=)
c.72A= (p.Gly24=)
10g.122506762A>CCA471666779HTRA1c.849A>C (p.Gly283=)
c.531A>C (p.Gly177=)
c.72A>C (p.Gly24=)
10g.122506762A>GCA5725955HTRA1c.849A>G (p.Gly283=)
c.531A>G (p.Gly177=)
c.72A>G (p.Gly24=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506762A>TCA471666781HTRA1c.849A>T (p.Gly283=)
c.531A>T (p.Gly177=)
c.72A>T (p.Gly24=)
10g.122506763A=CA1941477223HTRA1c.850A= (p.Ser284=)
c.532A= (p.Ser178=)
c.73A= (p.Ser25=)
10g.122506763A>CCA378585511HTRA1c.850A>C (p.Ser284Arg)
c.532A>C (p.Ser178Arg)
c.73A>C (p.Ser25Arg)
10g.122506763A>GCA378585507HTRA1c.850A>G (p.Ser284Gly)
c.532A>G (p.Ser178Gly)
c.73A>G (p.Ser25Gly)
10g.122506763A>TCA378585509HTRA1c.850A>T (p.Ser284Cys)
c.532A>T (p.Ser178Cys)
c.73A>T (p.Ser25Cys)
10g.122506764G>ACA378585513HTRA1c.851G>A (p.Ser284Asn)
c.533G>A (p.Ser178Asn)
c.74G>A (p.Ser25Asn)
10g.122506764G>CCA378585515HTRA1c.851G>C (p.Ser284Thr)
c.533G>C (p.Ser178Thr)
c.74G>C (p.Ser25Thr)
10g.122506764G>TCA378585517HTRA1c.851G>T (p.Ser284Ile)
c.533G>T (p.Ser178Ile)
c.74G>T (p.Ser25Ile)
10g.122506764dupCA918779412HTRA1c.851dup (p.Ser284ArgfsTer?)
c.533dup (p.Ser178ArgfsTer?)
c.74dup (p.Ser25ArgfsTer?)
dbSNP
10g.122506765C>ACA350890HTRA1c.852C>A (p.Ser284Arg)
c.534C>A (p.Ser178Arg)
c.75C>A (p.Ser25Arg)
ClinVar dbSNP
10g.122506765C=CA1941477224HTRA1c.852C= (p.Ser284=)
c.534C= (p.Ser178=)
c.75C= (p.Ser25=)
10g.122506765C>GCA378585519HTRA1c.852C>G (p.Ser284Arg)
c.534C>G (p.Ser178Arg)
c.75C>G (p.Ser25Arg)
10g.122506765C>TCA471666795HTRA1c.852C>T (p.Ser284=)
c.534C>T (p.Ser178=)
c.75C>T (p.Ser25=)
10g.122506766C>ACA378585522HTRA1c.853C>A (p.Pro285Thr)
c.535C>A (p.Pro179Thr)
c.76C>A (p.Pro26Thr)
10g.122506766C>GCA378585526HTRA1c.853C>G (p.Pro285Ala)
c.535C>G (p.Pro179Ala)
c.76C>G (p.Pro26Ala)
10g.122506766C>TCA378585524HTRA1c.853C>T (p.Pro285Ser)
c.535C>T (p.Pro179Ser)
c.76C>T (p.Pro26Ser)
10g.122506767C>ACA378585528HTRA1c.854C>A (p.Pro285Gln)
c.536C>A (p.Pro179Gln)
c.77C>A (p.Pro26Gln)
10g.122506767C=CA1941477225HTRA1c.854C= (p.Pro285=)
c.536C= (p.Pro179=)
c.77C= (p.Pro26=)
10g.122506767C>GCA378585530HTRA1c.854C>G (p.Pro285Arg)
c.536C>G (p.Pro179Arg)
c.77C>G (p.Pro26Arg)
10g.122506767C>TCA345925HTRA1c.854C>T (p.Pro285Leu)
c.536C>T (p.Pro179Leu)
c.77C>T (p.Pro26Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.122506768G>ACA5725956HTRA1c.855G>A (p.Pro285=)
c.537G>A (p.Pro179=)
c.78G>A (p.Pro26=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506768G>CCA471666804HTRA1c.855G>C (p.Pro285=)
c.537G>C (p.Pro179=)
c.78G>C (p.Pro26=)
dbSNP
10g.122506768G=CA1941477226HTRA1c.855G= (p.Pro285=)
c.537G= (p.Pro179=)
c.78G= (p.Pro26=)
10g.122506768G>TCA471666805HTRA1c.855G>T (p.Pro285=)
c.537G>T (p.Pro179=)
c.78G>T (p.Pro26=)
10g.122506769T>ACA378585534HTRA1c.856T>A (p.Phe286Ile)
c.538T>A (p.Phe180Ile)
c.79T>A (p.Phe27Ile)
10g.122506769T>CCA378585537HTRA1c.856T>C (p.Phe286Leu)
c.538T>C (p.Phe180Leu)
c.79T>C (p.Phe27Leu)
10g.122506769T>GCA378585536HTRA1c.856T>G (p.Phe286Val)
c.538T>G (p.Phe180Val)
c.79T>G (p.Phe27Val)
10g.122506770T>ACA378585539HTRA1c.857T>A (p.Phe286Tyr)
c.539T>A (p.Phe180Tyr)
c.80T>A (p.Phe27Tyr)
10g.122506770T>CCA378585540HTRA1c.857T>C (p.Phe286Ser)
c.539T>C (p.Phe180Ser)
c.80T>C (p.Phe27Ser)
ClinVar
10g.122506770T>GCA378585541HTRA1c.857T>G (p.Phe286Cys)
c.539T>G (p.Phe180Cys)
c.80T>G (p.Phe27Cys)
10g.122506771T>ACA378585543HTRA1c.858T>A (p.Phe286Leu)
c.540T>A (p.Phe180Leu)
c.81T>A (p.Phe27Leu)
10g.122506771T>CCA471666813HTRA1c.858T>C (p.Phe286=)
c.540T>C (p.Phe180=)
c.81T>C (p.Phe27=)
10g.122506771T>GCA378585544HTRA1c.858T>G (p.Phe286Leu)
c.540T>G (p.Phe180Leu)
c.81T>G (p.Phe27Leu)
10g.122506772T>ACA378585546HTRA1c.859T>A (p.Ser287Thr)
c.541T>A (p.Ser181Thr)
c.82T>A (p.Ser28Thr)
10g.122506772T>CCA378585547HTRA1c.859T>C (p.Ser287Pro)
c.541T>C (p.Ser181Pro)
c.82T>C (p.Ser28Pro)
ClinVar
10g.122506772T>GCA378585549HTRA1c.859T>G (p.Ser287Ala)
c.541T>G (p.Ser181Ala)
c.82T>G (p.Ser28Ala)
10g.122506773C>ACA378585550HTRA1c.860C>A (p.Ser287Tyr)
c.542C>A (p.Ser181Tyr)
c.83C>A (p.Ser28Tyr)
10g.122506773C>GCA378585551HTRA1c.860C>G (p.Ser287Cys)
c.542C>G (p.Ser181Cys)
c.83C>G (p.Ser28Cys)
10g.122506773C>TCA378585554HTRA1c.860C>T (p.Ser287Phe)
c.542C>T (p.Ser181Phe)
c.83C>T (p.Ser28Phe)
10g.122506773_122506774delinsTTCA645568693HTRA1c.860_861delinsTT (p.Ser287Phe)
c.542_543delinsTT (p.Ser181Phe)
c.83_84delinsTT (p.Ser28Phe)
COSMIC
10g.122506774C>ACA471666819HTRA1c.861C>A (p.Ser287=)
c.543C>A (p.Ser181=)
c.84C>A (p.Ser28=)
10g.122506774C>GCA471666820HTRA1c.861C>G (p.Ser287=)
c.543C>G (p.Ser181=)
c.84C>G (p.Ser28=)
10g.122506774C>TCA471666822HTRA1c.861C>T (p.Ser287=)
c.543C>T (p.Ser181=)
c.84C>T (p.Ser28=)
10g.122506775C>ACA378585555HTRA1c.862C>A (p.Leu288Ile)
c.544C>A (p.Leu182Ile)
c.85C>A (p.Leu29Ile)
10g.122506775C>GCA378585559HTRA1c.862C>G (p.Leu288Val)
c.544C>G (p.Leu182Val)
c.85C>G (p.Leu29Val)
10g.122506775C>TCA378585557HTRA1c.862C>T (p.Leu288Phe)
c.544C>T (p.Leu182Phe)
c.85C>T (p.Leu29Phe)
10g.122506776T>ACA378585561HTRA1c.863T>A (p.Leu288His)
c.545T>A (p.Leu182His)
c.86T>A (p.Leu29His)
10g.122506776T>CCA378585563HTRA1c.863T>C (p.Leu288Pro)
c.545T>C (p.Leu182Pro)
c.86T>C (p.Leu29Pro)
10g.122506776T>GCA378585565HTRA1c.863T>G (p.Leu288Arg)
c.545T>G (p.Leu182Arg)
c.86T>G (p.Leu29Arg)
10g.122506777T>ACA471666832HTRA1c.864T>A (p.Leu288=)
c.546T>A (p.Leu182=)
c.87T>A (p.Leu29=)
10g.122506777T>CCA471666828HTRA1c.864T>C (p.Leu288=)
c.546T>C (p.Leu182=)
c.87T>C (p.Leu29=)
10g.122506777T>GCA471666829HTRA1c.864T>G (p.Leu288=)
c.546T>G (p.Leu182=)
c.87T>G (p.Leu29=)
10g.122506778C>ACA378585567HTRA1c.865C>A (p.Gln289Lys)
c.547C>A (p.Gln183Lys)
c.88C>A (p.Gln30Lys)
10g.122506778C=CA1941477227HTRA1c.865C= (p.Gln289=)
c.547C= (p.Gln183=)
c.88C= (p.Gln30=)
10g.122506778C>GCA378585569HTRA1c.865C>G (p.Gln289Glu)
c.547C>G (p.Gln183Glu)
c.88C>G (p.Gln30Glu)
10g.122506778C>TCA378585571HTRA1c.865C>T (p.Gln289Ter)
c.547C>T (p.Gln183Ter)
c.88C>T (p.Gln30Ter)
ClinVar dbSNP
10g.122506779A>CCA378585573HTRA1c.866A>C (p.Gln289Pro)
c.548A>C (p.Gln183Pro)
c.89A>C (p.Gln30Pro)
10g.122506779A>GCA378585577HTRA1c.866A>G (p.Gln289Arg)
c.548A>G (p.Gln183Arg)
c.89A>G (p.Gln30Arg)
10g.122506779A>TCA378585578HTRA1c.866A>T (p.Gln289Leu)
c.548A>T (p.Gln183Leu)
c.89A>T (p.Gln30Leu)
10g.122506780A>CCA378585580HTRA1c.867A>C (p.Gln289His)
c.549A>C (p.Gln183His)
c.90A>C (p.Gln30His)
10g.122506780A>GCA471666837HTRA1c.867A>G (p.Gln289=)
c.549A>G (p.Gln183=)
c.90A>G (p.Gln30=)
10g.122506780A>TCA378585582HTRA1c.867A>T (p.Gln289His)
c.549A>T (p.Gln183His)
c.90A>T (p.Gln30His)
10g.122506781A>CCA378585588HTRA1c.868A>C (p.Asn290His)
c.550A>C (p.Asn184His)
c.91A>C (p.Asn31His)
10g.122506781A>GCA378585584HTRA1c.868A>G (p.Asn290Asp)
c.550A>G (p.Asn184Asp)
c.91A>G (p.Asn31Asp)
10g.122506781A>TCA378585586HTRA1c.868A>T (p.Asn290Tyr)
c.550A>T (p.Asn184Tyr)
c.91A>T (p.Asn31Tyr)
10g.122506782A>CCA378585590HTRA1c.869A>C (p.Asn290Thr)
c.551A>C (p.Asn184Thr)
c.92A>C (p.Asn31Thr)
10g.122506782A>GCA378585591HTRA1c.869A>G (p.Asn290Ser)
c.551A>G (p.Asn184Ser)
c.92A>G (p.Asn31Ser)
10g.122506782A>TCA378585594HTRA1c.869A>T (p.Asn290Ile)
c.551A>T (p.Asn184Ile)
c.92A>T (p.Asn31Ile)
10g.122506785_122506786delCA2695212892HTRA1c.872_873del (p.Thr291SerfsTer?)
c.554_555del (p.Thr185SerfsTer?)
c.95_96del (p.Thr32SerfsTer?)
10g.122506783C>ACA378585596HTRA1c.870C>A (p.Asn290Lys)
c.552C>A (p.Asn184Lys)
c.93C>A (p.Asn31Lys)
10g.122506783C>GCA378585597HTRA1c.870C>G (p.Asn290Lys)
c.552C>G (p.Asn184Lys)
c.93C>G (p.Asn31Lys)
10g.122506783C>TCA471666845HTRA1c.870C>T (p.Asn290=)
c.552C>T (p.Asn184=)
c.93C>T (p.Asn31=)
10g.122506784A>CCA378585599HTRA1c.871A>C (p.Thr291Pro)
c.553A>C (p.Thr185Pro)
c.94A>C (p.Thr32Pro)
10g.122506784A>GCA378585601HTRA1c.871A>G (p.Thr291Ala)
c.553A>G (p.Thr185Ala)
c.94A>G (p.Thr32Ala)
10g.122506784A>TCA378585604HTRA1c.871A>T (p.Thr291Ser)
c.553A>T (p.Thr185Ser)
c.94A>T (p.Thr32Ser)
10g.122506785C>ACA378585606HTRA1c.872C>A (p.Thr291Lys)
c.554C>A (p.Thr185Lys)
c.95C>A (p.Thr32Lys)
10g.122506785C>GCA378585607HTRA1c.872C>G (p.Thr291Arg)
c.554C>G (p.Thr185Arg)
c.95C>G (p.Thr32Arg)
10g.122506785C>TCA378585609HTRA1c.872C>T (p.Thr291Ile)
c.554C>T (p.Thr185Ile)
c.95C>T (p.Thr32Ile)
10g.122506786A=CA1941477228HTRA1c.873A= (p.Thr291=)
c.555A= (p.Thr185=)
c.96A= (p.Thr32=)
10g.122506786A>CCA471666851HTRA1c.873A>C (p.Thr291=)
c.555A>C (p.Thr185=)
c.96A>C (p.Thr32=)
dbSNP
10g.122506786A>GCA471666853HTRA1c.873A>G (p.Thr291=)
c.555A>G (p.Thr185=)
c.96A>G (p.Thr32=)
gnomAD v4
10g.122506786A>TCA471666855HTRA1c.873A>T (p.Thr291=)
c.555A>T (p.Thr185=)
c.96A>T (p.Thr32=)
10g.122506787G>ACA378585613HTRA1c.874G>A (p.Val292Ile)
c.556G>A (p.Val186Ile)
c.97G>A (p.Val33Ile)
10g.122506787G>CCA378585614HTRA1c.874G>C (p.Val292Leu)
c.556G>C (p.Val186Leu)
c.97G>C (p.Val33Leu)
10g.122506787G>TCA378585611HTRA1c.874G>T (p.Val292Phe)
c.556G>T (p.Val186Phe)
c.97G>T (p.Val33Phe)

Number of alleles fetched