Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.122506788T>ACA378585620HTRA1c.875T>A (p.Val292Asp)
c.557T>A (p.Val186Asp)
c.98T>A (p.Val33Asp)
10g.122506788T>CCA378585617HTRA1c.875T>C (p.Val292Ala)
c.557T>C (p.Val186Ala)
c.98T>C (p.Val33Ala)
10g.122506788T>GCA378585619HTRA1c.875T>G (p.Val292Gly)
c.557T>G (p.Val186Gly)
c.98T>G (p.Val33Gly)
10g.122506789C>ACA471666866HTRA1c.876C>A (p.Val292=)
c.558C>A (p.Val186=)
c.99C>A (p.Val33=)
10g.122506789C>GCA471666867HTRA1c.876C>G (p.Val292=)
c.558C>G (p.Val186=)
c.99C>G (p.Val33=)
10g.122506789C>TCA471666869HTRA1c.876C>T (p.Val292=)
c.558C>T (p.Val186=)
c.99C>T (p.Val33=)
10g.122506790A>CCA378585621HTRA1c.877A>C (p.Thr293Pro)
c.559A>C (p.Thr187Pro)
c.100A>C (p.Thr34Pro)
10g.122506790A>GCA378585624HTRA1c.877A>G (p.Thr293Ala)
c.559A>G (p.Thr187Ala)
c.100A>G (p.Thr34Ala)
gnomAD v4
10g.122506790A>TCA378585625HTRA1c.877A>T (p.Thr293Ser)
c.559A>T (p.Thr187Ser)
c.100A>T (p.Thr34Ser)
10g.122506791C>ACA378585628HTRA1c.878C>A (p.Thr293Asn)
c.560C>A (p.Thr187Asn)
c.101C>A (p.Thr34Asn)
10g.122506791C>GCA378585630HTRA1c.878C>G (p.Thr293Ser)
c.560C>G (p.Thr187Ser)
c.101C>G (p.Thr34Ser)
10g.122506791C>TCA378585632HTRA1c.878C>T (p.Thr293Ile)
c.560C>T (p.Thr187Ile)
c.101C>T (p.Thr34Ile)
10g.122506792C>ACA471666877HTRA1c.879C>A (p.Thr293=)
c.561C>A (p.Thr187=)
c.102C>A (p.Thr34=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.122506792C=CA1941477229HTRA1c.879C= (p.Thr293=)
c.561C= (p.Thr187=)
c.102C= (p.Thr34=)
10g.122506792C>GCA471666878HTRA1c.879C>G (p.Thr293=)
c.561C>G (p.Thr187=)
c.102C>G (p.Thr34=)
10g.122506792C>TCA5725957HTRA1c.879C>T (p.Thr293=)
c.561C>T (p.Thr187=)
c.102C>T (p.Thr34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506793A=CA1941477230HTRA1c.880A= (p.Thr294=)
c.562A= (p.Thr188=)
c.103A= (p.Thr35=)
10g.122506793A>CCA378585635HTRA1c.880A>C (p.Thr294Pro)
c.562A>C (p.Thr188Pro)
c.103A>C (p.Thr35Pro)
10g.122506793A>GCA378585637HTRA1c.880A>G (p.Thr294Ala)
c.562A>G (p.Thr188Ala)
c.103A>G (p.Thr35Ala)
dbSNP gnomAD v4
10g.122506793A>TCA378585639HTRA1c.880A>T (p.Thr294Ser)
c.562A>T (p.Thr188Ser)
c.103A>T (p.Thr35Ser)
10g.122506794C>ACA378585645HTRA1c.881C>A (p.Thr294Asn)
c.563C>A (p.Thr188Asn)
c.104C>A (p.Thr35Asn)
10g.122506794C=CA1941477231HTRA1c.881C= (p.Thr294=)
c.563C= (p.Thr188=)
c.104C= (p.Thr35=)
10g.122506794C>GCA378585641HTRA1c.881C>G (p.Thr294Ser)
c.563C>G (p.Thr188Ser)
c.104C>G (p.Thr35Ser)
10g.122506794C>TCA378585643HTRA1c.881C>T (p.Thr294Ile)
c.563C>T (p.Thr188Ile)
c.104C>T (p.Thr35Ile)
dbSNP gnomAD v2 gnomAD v4
10g.122506795C>ACA471666887HTRA1c.882C>A (p.Thr294=)
c.564C>A (p.Thr188=)
c.105C>A (p.Thr35=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506795C=CA1941477232HTRA1c.882C= (p.Thr294=)
c.564C= (p.Thr188=)
c.105C= (p.Thr35=)
10g.122506795C>GCA5725958HTRA1c.882C>G (p.Thr294=)
c.564C>G (p.Thr188=)
c.105C>G (p.Thr35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506795C>TCA5725959HTRA1c.882C>T (p.Thr294=)
c.564C>T (p.Thr188=)
c.105C>T (p.Thr35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506796G>ACA342726HTRA1c.883G>A (p.Gly295Arg)
c.565G>A (p.Gly189Arg)
c.106G>A (p.Gly36Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.122506796G>CCA5725960HTRA1c.883G>C (p.Gly295Arg)
c.565G>C (p.Gly189Arg)
c.106G>C (p.Gly36Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506796G=CA1941477233HTRA1c.883G= (p.Gly295=)
c.565G= (p.Gly189=)
c.106G= (p.Gly36=)
10g.122506796G>TCA378585651HTRA1c.883G>T (p.Gly295Trp)
c.565G>T (p.Gly189Trp)
c.106G>T (p.Gly36Trp)
10g.122506797G>ACA5725961HTRA1c.884G>A (p.Gly295Glu)
c.566G>A (p.Gly189Glu)
c.107G>A (p.Gly36Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506797G>CCA378585653HTRA1c.884G>C (p.Gly295Ala)
c.566G>C (p.Gly189Ala)
c.107G>C (p.Gly36Ala)
10g.122506797G=CA1941477234HTRA1c.884G= (p.Gly295=)
c.566G= (p.Gly189=)
c.107G= (p.Gly36=)
10g.122506797G>TCA378585655HTRA1c.884G>T (p.Gly295Val)
c.566G>T (p.Gly189Val)
c.107G>T (p.Gly36Val)
10g.122506798G>ACA471666900HTRA1c.885G>A (p.Gly295=)
c.567G>A (p.Gly189=)
c.108G>A (p.Gly36=)
10g.122506798G>CCA471666901HTRA1c.885G>C (p.Gly295=)
c.567G>C (p.Gly189=)
c.108G>C (p.Gly36=)
10g.122506798G>TCA471666904HTRA1c.885G>T (p.Gly295=)
c.567G>T (p.Gly189=)
c.108G>T (p.Gly36=)
10g.122506799A>CCA378585657HTRA1c.886A>C (p.Ile296Leu)
c.568A>C (p.Ile190Leu)
c.109A>C (p.Ile37Leu)
10g.122506799A>GCA378585659HTRA1c.886A>G (p.Ile296Val)
c.568A>G (p.Ile190Val)
c.109A>G (p.Ile37Val)
10g.122506799A>TCA378585661HTRA1c.886A>T (p.Ile296Phe)
c.568A>T (p.Ile190Phe)
c.109A>T (p.Ile37Phe)
10g.122506800T>ACA378585665HTRA1c.887T>A (p.Ile296Asn)
c.569T>A (p.Ile190Asn)
c.110T>A (p.Ile37Asn)
10g.122506800T>CCA214411347HTRA1c.887T>C (p.Ile296Thr)
c.569T>C (p.Ile190Thr)
c.110T>C (p.Ile37Thr)
dbSNP
10g.122506800T>GCA378585663HTRA1c.887T>G (p.Ile296Ser)
c.569T>G (p.Ile190Ser)
c.110T>G (p.Ile37Ser)
10g.122506800T=CA1941477235HTRA1c.887T= (p.Ile296=)
c.569T= (p.Ile190=)
c.110T= (p.Ile37=)
10g.122506801C>ACA471666913HTRA1c.888C>A (p.Ile296=)
c.570C>A (p.Ile190=)
c.111C>A (p.Ile37=)
10g.122506801C=CA1941477236HTRA1c.888C= (p.Ile296=)
c.570C= (p.Ile190=)
c.111C= (p.Ile37=)
10g.122506801C>GCA378585667HTRA1c.888C>G (p.Ile296Met)
c.570C>G (p.Ile190Met)
c.111C>G (p.Ile37Met)
ClinVar dbSNP
10g.122506801C>TCA5725962HTRA1c.888C>T (p.Ile296=)
c.570C>T (p.Ile190=)
c.111C>T (p.Ile37=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506802G>ACA340685HTRA1c.889G>A (p.Val297Met)
c.571G>A (p.Val191Met)
c.112G>A (p.Val38Met)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.122506802G>CCA378585670HTRA1c.889G>C (p.Val297Leu)
c.571G>C (p.Val191Leu)
c.112G>C (p.Val38Leu)
10g.122506802G=CA1941477237HTRA1c.889G= (p.Val297=)
c.571G= (p.Val191=)
c.112G= (p.Val38=)
10g.122506802G>TCA378585672HTRA1c.889G>T (p.Val297Leu)
c.571G>T (p.Val191Leu)
c.112G>T (p.Val38Leu)
10g.122506803T>ACA378585674HTRA1c.890T>A (p.Val297Glu)
c.572T>A (p.Val191Glu)
c.113T>A (p.Val38Glu)
10g.122506803T>CCA378585675HTRA1c.890T>C (p.Val297Ala)
c.572T>C (p.Val191Ala)
c.113T>C (p.Val38Ala)
10g.122506803T>GCA378585677HTRA1c.890T>G (p.Val297Gly)
c.572T>G (p.Val191Gly)
c.113T>G (p.Val38Gly)
10g.122506804G>ACA471666921HTRA1c.891G>A (p.Val297=)
c.573G>A (p.Val191=)
c.114G>A (p.Val38=)
gnomAD v4
10g.122506804G>CCA471666923HTRA1c.891G>C (p.Val297=)
c.573G>C (p.Val191=)
c.114G>C (p.Val38=)
10g.122506804G>TCA471666922HTRA1c.891G>T (p.Val297=)
c.573G>T (p.Val191=)
c.114G>T (p.Val38=)
10g.122506805A>CCA378585679HTRA1c.892A>C (p.Ser298Arg)
c.574A>C (p.Ser192Arg)
c.115A>C (p.Ser39Arg)
10g.122506805A>GCA378585681HTRA1c.892A>G (p.Ser298Gly)
c.574A>G (p.Ser192Gly)
c.115A>G (p.Ser39Gly)
10g.122506805A>TCA378585682HTRA1c.892A>T (p.Ser298Cys)
c.574A>T (p.Ser192Cys)
c.115A>T (p.Ser39Cys)
10g.122506806G>ACA378585683HTRA1c.893G>A (p.Ser298Asn)
c.575G>A (p.Ser192Asn)
c.116G>A (p.Ser39Asn)
ClinVar dbSNP
10g.122506806G>CCA378585685HTRA1c.893G>C (p.Ser298Thr)
c.575G>C (p.Ser192Thr)
c.116G>C (p.Ser39Thr)
10g.122506806G>TCA378585687HTRA1c.893G>T (p.Ser298Ile)
c.575G>T (p.Ser192Ile)
c.116G>T (p.Ser39Ile)
10g.122506807C>ACA378585689HTRA1c.894C>A (p.Ser298Arg)
c.576C>A (p.Ser192Arg)
c.117C>A (p.Ser39Arg)
10g.122506807C>GCA378585691HTRA1c.894C>G (p.Ser298Arg)
c.576C>G (p.Ser192Arg)
c.117C>G (p.Ser39Arg)
10g.122506807C>TCA471666929HTRA1c.894C>T (p.Ser298=)
c.576C>T (p.Ser192=)
c.117C>T (p.Ser39=)
10g.122506808A>CCA378585693HTRA1c.895A>C (p.Thr299Pro)
c.577A>C (p.Thr193Pro)
c.118A>C (p.Thr40Pro)
10g.122506808A>GCA378585694HTRA1c.895A>G (p.Thr299Ala)
c.577A>G (p.Thr193Ala)
c.118A>G (p.Thr40Ala)
10g.122506808A>TCA378585697HTRA1c.895A>T (p.Thr299Ser)
c.577A>T (p.Thr193Ser)
c.118A>T (p.Thr40Ser)
10g.122506809C>ACA378585699HTRA1c.896C>A (p.Thr299Asn)
c.578C>A (p.Thr193Asn)
c.119C>A (p.Thr40Asn)
10g.122506809C>GCA378585701HTRA1c.896C>G (p.Thr299Ser)
c.578C>G (p.Thr193Ser)
c.119C>G (p.Thr40Ser)
10g.122506809C>TCA378585703HTRA1c.896C>T (p.Thr299Ile)
c.578C>T (p.Thr193Ile)
c.119C>T (p.Thr40Ile)
10g.122506810C>ACA471666930HTRA1c.897C>A (p.Thr299=)
c.579C>A (p.Thr193=)
c.120C>A (p.Thr40=)
10g.122506810C>GCA471666931HTRA1c.897C>G (p.Thr299=)
c.579C>G (p.Thr193=)
c.120C>G (p.Thr40=)
10g.122506810C>TCA471666932HTRA1c.897C>T (p.Thr299=)
c.579C>T (p.Thr193=)
c.120C>T (p.Thr40=)
10g.122506811A>CCA378585705HTRA1c.898A>C (p.Thr300Pro)
c.580A>C (p.Thr194Pro)
c.121A>C (p.Thr41Pro)
10g.122506811A>GCA378585707HTRA1c.898A>G (p.Thr300Ala)
c.580A>G (p.Thr194Ala)
c.121A>G (p.Thr41Ala)
10g.122506811A>TCA378585708HTRA1c.898A>T (p.Thr300Ser)
c.580A>T (p.Thr194Ser)
c.121A>T (p.Thr41Ser)
10g.122506812C>ACA378585711HTRA1c.899C>A (p.Thr300Asn)
c.581C>A (p.Thr194Asn)
c.122C>A (p.Thr41Asn)
10g.122506812C>GCA378585712HTRA1c.899C>G (p.Thr300Ser)
c.581C>G (p.Thr194Ser)
c.122C>G (p.Thr41Ser)
10g.122506812C>TCA378585714HTRA1c.899C>T (p.Thr300Ile)
c.581C>T (p.Thr194Ile)
c.122C>T (p.Thr41Ile)
10g.122506813C>ACA471666936HTRA1c.900C>A (p.Thr300=)
c.582C>A (p.Thr194=)
c.123C>A (p.Thr41=)
gnomAD v4
10g.122506813C=CA1941477238HTRA1c.900C= (p.Thr300=)
c.582C= (p.Thr194=)
c.123C= (p.Thr41=)
10g.122506813C>GCA471666937HTRA1c.900C>G (p.Thr300=)
c.582C>G (p.Thr194=)
c.123C>G (p.Thr41=)
gnomAD v4
10g.122506813C>TCA214411368HTRA1c.900C>T (p.Thr300=)
c.582C>T (p.Thr194=)
c.123C>T (p.Thr41=)
dbSNP
10g.122506814C>ACA378585718HTRA1c.901C>A (p.Gln301Lys)
c.583C>A (p.Gln195Lys)
c.124C>A (p.Gln42Lys)
10g.122506814C>GCA378585721HTRA1c.901C>G (p.Gln301Glu)
c.583C>G (p.Gln195Glu)
c.124C>G (p.Gln42Glu)
10g.122506814C>TCA378585717HTRA1c.901C>T (p.Gln301Ter)
c.583C>T (p.Gln195Ter)
c.124C>T (p.Gln42Ter)
10g.122506815A>CCA378585723HTRA1c.902A>C (p.Gln301Pro)
c.584A>C (p.Gln195Pro)
c.125A>C (p.Gln42Pro)
10g.122506815A>GCA378585724HTRA1c.902A>G (p.Gln301Arg)
c.584A>G (p.Gln195Arg)
c.125A>G (p.Gln42Arg)
10g.122506815A>TCA378585726HTRA1c.902A>T (p.Gln301Leu)
c.584A>T (p.Gln195Leu)
c.125A>T (p.Gln42Leu)
10g.122506816G>ACA471666941HTRA1c.903G>A (p.Gln301=)
c.585G>A (p.Gln195=)
c.126G>A (p.Gln42=)
dbSNP
10g.122506816G>CCA378585727HTRA1c.903G>C (p.Gln301His)
c.585G>C (p.Gln195His)
c.126G>C (p.Gln42His)
dbSNP gnomAD v3 gnomAD v4
10g.122506816G=CA1941477239HTRA1c.903G= (p.Gln301=)
c.585G= (p.Gln195=)
c.126G= (p.Gln42=)
10g.122506816G>TCA378585729HTRA1c.903G>T (p.Gln301His)
c.585G>T (p.Gln195His)
c.126G>T (p.Gln42His)
10g.122506817C>ACA471666942HTRA1c.904C>A (p.Arg302=)
c.586C>A (p.Arg196=)
c.127C>A (p.Arg43=)
gnomAD v4
10g.122506817C=CA1941477240HTRA1c.904C= (p.Arg302=)
c.586C= (p.Arg196=)
c.127C= (p.Arg43=)
10g.122506817C>GCA378585731HTRA1c.904C>G (p.Arg302Gly)
c.586C>G (p.Arg196Gly)
c.127C>G (p.Arg43Gly)
10g.122506817C>TCA340683HTRA1c.904C>T (p.Arg302Ter)
c.586C>T (p.Arg196Ter)
c.127C>T (p.Arg43Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506818G>ACA378585732HTRA1c.905G>A (p.Arg302Gln)
c.587G>A (p.Arg196Gln)
c.128G>A (p.Arg43Gln)
ClinVar dbSNP gnomAD v4 COSMIC
10g.122506818G>CCA378585734HTRA1c.905G>C (p.Arg302Pro)
c.587G>C (p.Arg196Pro)
c.128G>C (p.Arg43Pro)
10g.122506818G>TCA378585735HTRA1c.905G>T (p.Arg302Leu)
c.587G>T (p.Arg196Leu)
c.128G>T (p.Arg43Leu)
10g.122506819A>CCA471666944HTRA1c.906A>C (p.Arg302=)
c.588A>C (p.Arg196=)
c.129A>C (p.Arg43=)
10g.122506819A>GCA471666945HTRA1c.906A>G (p.Arg302=)
c.588A>G (p.Arg196=)
c.129A>G (p.Arg43=)
10g.122506819A>TCA471666946HTRA1c.906A>T (p.Arg302=)
c.588A>T (p.Arg196=)
c.129A>T (p.Arg43=)
10g.122506820G>ACA5725963HTRA1c.907G>A (p.Gly303Ser)
c.589G>A (p.Gly197Ser)
c.130G>A (p.Gly44Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506820G>CCA378585738HTRA1c.907G>C (p.Gly303Arg)
c.589G>C (p.Gly197Arg)
c.130G>C (p.Gly44Arg)
gnomAD v4
10g.122506820G=CA1941477241HTRA1c.907G= (p.Gly303=)
c.589G= (p.Gly197=)
c.130G= (p.Gly44=)
10g.122506820G>TCA378585740HTRA1c.907G>T (p.Gly303Cys)
c.589G>T (p.Gly197Cys)
c.130G>T (p.Gly44Cys)
10g.122506821G>ACA378585743HTRA1c.908G>A (p.Gly303Asp)
c.590G>A (p.Gly197Asp)
c.131G>A (p.Gly44Asp)
10g.122506821G>CCA378585742HTRA1c.908G>C (p.Gly303Ala)
c.590G>C (p.Gly197Ala)
c.131G>C (p.Gly44Ala)
10g.122506821G>TCA378585741HTRA1c.908G>T (p.Gly303Val)
c.590G>T (p.Gly197Val)
c.131G>T (p.Gly44Val)
10g.122506822C>ACA471666948HTRA1c.909C>A (p.Gly303=)
c.591C>A (p.Gly197=)
c.132C>A (p.Gly44=)
10g.122506822C=CA1941477242HTRA1c.909C= (p.Gly303=)
c.591C= (p.Gly197=)
c.132C= (p.Gly44=)
10g.122506822C>GCA471666949HTRA1c.909C>G (p.Gly303=)
c.591C>G (p.Gly197=)
c.132C>G (p.Gly44=)
10g.122506822C>TCA5725964HTRA1c.909C>T (p.Gly303=)
c.591C>T (p.Gly197=)
c.132C>T (p.Gly44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506823G>ACA378585744HTRA1c.910G>A (p.Gly304Ser)
c.592G>A (p.Gly198Ser)
c.133G>A (p.Gly45Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506823G>CCA378585745HTRA1c.910G>C (p.Gly304Arg)
c.592G>C (p.Gly198Arg)
c.133G>C (p.Gly45Arg)
ClinVar
10g.122506823G=CA1941477243HTRA1c.910G= (p.Gly304=)
c.592G= (p.Gly198=)
c.133G= (p.Gly45=)
10g.122506823G>TCA378585746HTRA1c.910G>T (p.Gly304Cys)
c.592G>T (p.Gly198Cys)
c.133G>T (p.Gly45Cys)
10g.122506824G>ACA378585747HTRA1c.911G>A (p.Gly304Asp)
c.593G>A (p.Gly198Asp)
c.134G>A (p.Gly45Asp)
COSMIC
10g.122506824G>CCA378585748HTRA1c.911G>C (p.Gly304Ala)
c.593G>C (p.Gly198Ala)
c.134G>C (p.Gly45Ala)
10g.122506824G>TCA378585749HTRA1c.911G>T (p.Gly304Val)
c.593G>T (p.Gly198Val)
c.134G>T (p.Gly45Val)
10g.122506825C>ACA471666955HTRA1c.912C>A (p.Gly304=)
c.594C>A (p.Gly198=)
c.135C>A (p.Gly45=)
10g.122506825C>GCA471666954HTRA1c.912C>G (p.Gly304=)
c.594C>G (p.Gly198=)
c.135C>G (p.Gly45=)
10g.122506825C>TCA471666953HTRA1c.912C>T (p.Gly304=)
c.594C>T (p.Gly198=)
c.135C>T (p.Gly45=)
10g.122506826A>CCA378585750HTRA1c.913A>C (p.Lys305Gln)
c.595A>C (p.Lys199Gln)
c.136A>C (p.Lys46Gln)
10g.122506826A>GCA378585751HTRA1c.913A>G (p.Lys305Glu)
c.595A>G (p.Lys199Glu)
c.136A>G (p.Lys46Glu)
gnomAD v4
10g.122506826A>TCA378585752HTRA1c.913A>T (p.Lys305Ter)
c.595A>T (p.Lys199Ter)
c.136A>T (p.Lys46Ter)
10g.122506827A>CCA378585753HTRA1c.914A>C (p.Lys305Thr)
c.596A>C (p.Lys199Thr)
c.137A>C (p.Lys46Thr)
gnomAD v4
10g.122506827A>GCA378585754HTRA1c.914A>G (p.Lys305Arg)
c.596A>G (p.Lys199Arg)
c.137A>G (p.Lys46Arg)
10g.122506827A>TCA378585755HTRA1c.914A>T (p.Lys305Ile)
c.596A>T (p.Lys199Ile)
c.137A>T (p.Lys46Ile)
10g.122506828A>CCA378585756HTRA1c.915A>C (p.Lys305Asn)
c.597A>C (p.Lys199Asn)
c.138A>C (p.Lys46Asn)
10g.122506828A>GCA471666956HTRA1c.915A>G (p.Lys305=)
c.597A>G (p.Lys199=)
c.138A>G (p.Lys46=)
gnomAD v4
10g.122506828A>TCA378585757HTRA1c.915A>T (p.Lys305Asn)
c.597A>T (p.Lys199Asn)
c.138A>T (p.Lys46Asn)
10g.122506829G>ACA378585759HTRA1c.916G>A (p.Glu306Lys)
c.598G>A (p.Glu200Lys)
c.139G>A (p.Glu47Lys)
gnomAD v4
10g.122506829G>CCA378585760HTRA1c.916G>C (p.Glu306Gln)
c.598G>C (p.Glu200Gln)
c.139G>C (p.Glu47Gln)
10g.122506829G>TCA378585758HTRA1c.916G>T (p.Glu306Ter)
c.598G>T (p.Glu200Ter)
c.139G>T (p.Glu47Ter)

Number of alleles fetched