Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506724T>A | CA378585331 | HTRA1 | c.811T>A (p.Ser271Thr) c.493T>A (p.Ser165Thr) c.34T>A (p.Ser12Thr) | dbSNP |
10 | g.122506724T>C | CA378585333 | HTRA1 | c.811T>C (p.Ser271Pro) c.493T>C (p.Ser165Pro) c.34T>C (p.Ser12Pro) | gnomAD v4 |
10 | g.122506724T>G | CA378585335 | HTRA1 | c.811T>G (p.Ser271Ala) c.493T>G (p.Ser165Ala) c.34T>G (p.Ser12Ala) | |
10 | g.122506724T= | CA1941477197 | HTRA1 | c.811T= (p.Ser271=) c.493T= (p.Ser165=) c.34T= (p.Ser12=) | |
10 | g.122506725C>A | CA378585338 | HTRA1 | c.812C>A (p.Ser271Ter) c.494C>A (p.Ser165Ter) c.35C>A (p.Ser12Ter) | |
10 | g.122506725C= | CA1941477198 | HTRA1 | c.812C= (p.Ser271=) c.494C= (p.Ser165=) c.35C= (p.Ser12=) | |
10 | g.122506725C>G | CA378585341 | HTRA1 | c.812C>G (p.Ser271Ter) c.494C>G (p.Ser165Ter) c.35C>G (p.Ser12Ter) | |
10 | g.122506725C>T | CA214411222 | HTRA1 | c.812C>T (p.Ser271Leu) c.494C>T (p.Ser165Leu) c.35C>T (p.Ser12Leu) | dbSNP COSMIC |
10 | g.122506726A>C | CA471666658 | HTRA1 | c.813A>C (p.Ser271=) c.495A>C (p.Ser165=) c.36A>C (p.Ser12=) | |
10 | g.122506726A>G | CA471666660 | HTRA1 | c.813A>G (p.Ser271=) c.495A>G (p.Ser165=) c.36A>G (p.Ser12=) | |
10 | g.122506726A>T | CA471666662 | HTRA1 | c.813A>T (p.Ser271=) c.495A>T (p.Ser165=) c.36A>T (p.Ser12=) | |
10 | g.122506727G>A | CA378585346 | HTRA1 | c.814G>A (p.Glu272Lys) c.496G>A (p.Glu166Lys) c.37G>A (p.Glu13Lys) | |
10 | g.122506727G>C | CA378585350 | HTRA1 | c.814G>C (p.Glu272Gln) c.496G>C (p.Glu166Gln) c.37G>C (p.Glu13Gln) | |
10 | g.122506727G>T | CA378585344 | HTRA1 | c.814G>T (p.Glu272Ter) c.496G>T (p.Glu166Ter) c.37G>T (p.Glu13Ter) | |
10 | g.122506728A= | CA1941477199 | HTRA1 | c.815A= (p.Glu272=) c.497A= (p.Glu166=) c.38A= (p.Glu13=) | |
10 | g.122506728A>C | CA378585351 | HTRA1 | c.815A>C (p.Glu272Ala) c.497A>C (p.Glu166Ala) c.38A>C (p.Glu13Ala) | |
10 | g.122506728A>G | CA378585352 | HTRA1 | c.815A>G (p.Glu272Gly) c.497A>G (p.Glu166Gly) c.38A>G (p.Glu13Gly) | dbSNP gnomAD v4 |
10 | g.122506728A>T | CA5725936 | HTRA1 | c.815A>T (p.Glu272Val) c.497A>T (p.Glu166Val) c.38A>T (p.Glu13Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506729G>A | CA471666671 | HTRA1 | c.816G>A (p.Glu272=) c.498G>A (p.Glu166=) c.39G>A (p.Glu13=) | |
10 | g.122506729G>C | CA378585360 | HTRA1 | c.816G>C (p.Glu272Asp) c.498G>C (p.Glu166Asp) c.39G>C (p.Glu13Asp) | |
10 | g.122506729G>T | CA378585361 | HTRA1 | c.816G>T (p.Glu272Asp) c.498G>T (p.Glu166Asp) c.39G>T (p.Glu13Asp) | |
10 | g.122506730C>A | CA378585366 | HTRA1 | c.817C>A (p.Leu273Met) c.499C>A (p.Leu167Met) c.40C>A (p.Leu14Met) | |
10 | g.122506730C>G | CA378585364 | HTRA1 | c.817C>G (p.Leu273Val) c.499C>G (p.Leu167Val) c.40C>G (p.Leu14Val) | |
10 | g.122506730C>T | CA471666675 | HTRA1 | c.817C>T (p.Leu273=) c.499C>T (p.Leu167=) c.40C>T (p.Leu14=) | |
10 | g.122506731T>A | CA378585368 | HTRA1 | c.818T>A (p.Leu273Gln) c.500T>A (p.Leu167Gln) c.41T>A (p.Leu14Gln) | |
10 | g.122506731T>C | CA378585369 | HTRA1 | c.818T>C (p.Leu273Pro) c.500T>C (p.Leu167Pro) c.41T>C (p.Leu14Pro) | |
10 | g.122506731T>G | CA378585371 | HTRA1 | c.818T>G (p.Leu273Arg) c.500T>G (p.Leu167Arg) c.41T>G (p.Leu14Arg) | |
10 | g.122506732G>A | CA5725937 | HTRA1 | c.819G>A (p.Leu273=) c.501G>A (p.Leu167=) c.42G>A (p.Leu14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506732G>C | CA471666682 | HTRA1 | c.819G>C (p.Leu273=) c.501G>C (p.Leu167=) c.42G>C (p.Leu14=) | |
10 | g.122506732G= | CA1941477200 | HTRA1 | c.819G= (p.Leu273=) c.501G= (p.Leu167=) c.42G= (p.Leu14=) | |
10 | g.122506732G>T | CA471666684 | HTRA1 | c.819G>T (p.Leu273=) c.501G>T (p.Leu167=) c.42G>T (p.Leu14=) | |
10 | g.122506733C>A | CA471666685 | HTRA1 | c.820C>A (p.Arg274=) c.502C>A (p.Arg168=) c.43C>A (p.Arg15=) | |
10 | g.122506733C= | CA1941477201 | HTRA1 | c.820C= (p.Arg274=) c.502C= (p.Arg168=) c.43C= (p.Arg15=) | |
10 | g.122506733C>G | CA378585374 | HTRA1 | c.820C>G (p.Arg274Gly) c.502C>G (p.Arg168Gly) c.43C>G (p.Arg15Gly) | ClinVar dbSNP |
10 | g.122506733C>T | CA5725938 | HTRA1 | c.820C>T (p.Arg274Trp) c.502C>T (p.Arg168Trp) c.43C>T (p.Arg15Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506734G>A | CA345923 | HTRA1 | c.821G>A (p.Arg274Gln) c.503G>A (p.Arg168Gln) c.44G>A (p.Arg15Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506734G>C | CA378585381 | HTRA1 | c.821G>C (p.Arg274Pro) c.503G>C (p.Arg168Pro) c.44G>C (p.Arg15Pro) | |
10 | g.122506734G= | CA1941477202 | HTRA1 | c.821G= (p.Arg274=) c.503G= (p.Arg168=) c.44G= (p.Arg15=) | |
10 | g.122506734G>T | CA378585379 | HTRA1 | c.821G>T (p.Arg274Leu) c.503G>T (p.Arg168Leu) c.44G>T (p.Arg15Leu) | |
10 | g.122506735G>A | CA471666691 | HTRA1 | c.822G>A (p.Arg274=) c.504G>A (p.Arg168=) c.45G>A (p.Arg15=) | |
10 | g.122506735G>C | CA471666692 | HTRA1 | c.822G>C (p.Arg274=) c.504G>C (p.Arg168=) c.45G>C (p.Arg15=) | |
10 | g.122506735G>T | CA471666697 | HTRA1 | c.822G>T (p.Arg274=) c.504G>T (p.Arg168=) c.45G>T (p.Arg15=) | gnomAD v4 |
10 | g.122506736C>A | CA378585382 | HTRA1 | c.823C>A (p.Pro275Thr) c.505C>A (p.Pro169Thr) c.46C>A (p.Pro16Thr) | |
10 | g.122506736C= | CA1941477203 | HTRA1 | c.823C= (p.Pro275=) c.505C= (p.Pro169=) c.46C= (p.Pro16=) | |
10 | g.122506736C>G | CA378585383 | HTRA1 | c.823C>G (p.Pro275Ala) c.505C>G (p.Pro169Ala) c.46C>G (p.Pro16Ala) | |
10 | g.122506736C>T | CA378585384 | HTRA1 | c.823C>T (p.Pro275Ser) c.505C>T (p.Pro169Ser) c.46C>T (p.Pro16Ser) | dbSNP |
10 | g.122506737C>A | CA378585386 | HTRA1 | c.824C>A (p.Pro275Gln) c.506C>A (p.Pro169Gln) c.47C>A (p.Pro16Gln) | |
10 | g.122506737C= | CA1941477204 | HTRA1 | c.824C= (p.Pro275=) c.506C= (p.Pro169=) c.47C= (p.Pro16=) | |
10 | g.122506737C>G | CA378585391 | HTRA1 | c.824C>G (p.Pro275Arg) c.506C>G (p.Pro169Arg) c.47C>G (p.Pro16Arg) | |
10 | g.122506737C>T | CA5725939 | HTRA1 | c.824C>T (p.Pro275Leu) c.506C>T (p.Pro169Leu) c.47C>T (p.Pro16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506738G>A | CA5725940 | HTRA1 | c.825G>A (p.Pro275=) c.507G>A (p.Pro169=) c.48G>A (p.Pro16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506738G>C | CA471666706 | HTRA1 | c.825G>C (p.Pro275=) c.507G>C (p.Pro169=) c.48G>C (p.Pro16=) | |
10 | g.122506738G= | CA1941477205 | HTRA1 | c.825G= (p.Pro275=) c.507G= (p.Pro169=) c.48G= (p.Pro16=) | |
10 | g.122506738G>T | CA471666709 | HTRA1 | c.825G>T (p.Pro275=) c.507G>T (p.Pro169=) c.48G>T (p.Pro16=) | |
10 | g.122506740del | CA2842616627 | HTRA1 | c.827del (p.Gly276GlufsTer22) c.509del (p.Gly170GlufsTer22) c.50del (p.Gly17GlufsTer22) | |
10 | g.122506739G>A | CA378585397 | HTRA1 | c.826G>A (p.Gly276Arg) c.508G>A (p.Gly170Arg) c.49G>A (p.Gly17Arg) | COSMIC |
10 | g.122506739G>C | CA378585398 | HTRA1 | c.826G>C (p.Gly276Arg) c.508G>C (p.Gly170Arg) c.49G>C (p.Gly17Arg) | |
10 | g.122506739G>T | CA378585401 | HTRA1 | c.826G>T (p.Gly276Ter) c.508G>T (p.Gly170Ter) c.49G>T (p.Gly17Ter) | |
10 | g.122506740G>A | CA378585405 | HTRA1 | c.827G>A (p.Gly276Glu) c.509G>A (p.Gly170Glu) c.50G>A (p.Gly17Glu) | |
10 | g.122506740G>C | CA378585406 | HTRA1 | c.827G>C (p.Gly276Ala) c.509G>C (p.Gly170Ala) c.50G>C (p.Gly17Ala) | ClinVar dbSNP |
10 | g.122506740G= | CA1941477206 | HTRA1 | c.827G= (p.Gly276=) c.509G= (p.Gly170=) c.50G= (p.Gly17=) | |
10 | g.122506740G>T | CA378585409 | HTRA1 | c.827G>T (p.Gly276Val) c.509G>T (p.Gly170Val) c.50G>T (p.Gly17Val) | |
10 | g.122506743_122506744del | CA2695212890 | HTRA1 | c.830_831del (p.Glu277ValfsTer?) c.512_513del (p.Glu171ValfsTer?) c.53_54del (p.Glu18ValfsTer?) | |
10 | g.122506741A= | CA1941477207 | HTRA1 | c.828A= (p.Gly276=) c.510A= (p.Gly170=) c.51A= (p.Gly17=) | |
10 | g.122506741A>C | CA471666717 | HTRA1 | c.828A>C (p.Gly276=) c.510A>C (p.Gly170=) c.51A>C (p.Gly17=) | |
10 | g.122506741A>G | CA471666718 | HTRA1 | c.828A>G (p.Gly276=) c.510A>G (p.Gly170=) c.51A>G (p.Gly17=) | dbSNP |
10 | g.122506741A>T | CA471666720 | HTRA1 | c.828A>T (p.Gly276=) c.510A>T (p.Gly170=) c.51A>T (p.Gly17=) | |
10 | g.122506742G>A | CA378585416 | HTRA1 | c.829G>A (p.Glu277Lys) c.511G>A (p.Glu171Lys) c.52G>A (p.Glu18Lys) | |
10 | g.122506742G>C | CA378585415 | HTRA1 | c.829G>C (p.Glu277Gln) c.511G>C (p.Glu171Gln) c.52G>C (p.Glu18Gln) | COSMIC |
10 | g.122506742G>T | CA378585413 | HTRA1 | c.829G>T (p.Glu277Ter) c.511G>T (p.Glu171Ter) c.52G>T (p.Glu18Ter) | |
10 | g.122506743del | CA2695212891 | HTRA1 | c.830del (p.Glu277GlyfsTer21) c.512del (p.Glu171GlyfsTer21) c.53del (p.Glu18GlyfsTer21) | |
10 | g.122506743A>C | CA378585419 | HTRA1 | c.830A>C (p.Glu277Ala) c.512A>C (p.Glu171Ala) c.53A>C (p.Glu18Ala) | |
10 | g.122506743A>G | CA378585420 | HTRA1 | c.830A>G (p.Glu277Gly) c.512A>G (p.Glu171Gly) c.53A>G (p.Glu18Gly) | |
10 | g.122506743A>T | CA378585423 | HTRA1 | c.830A>T (p.Glu277Val) c.512A>T (p.Glu171Val) c.53A>T (p.Glu18Val) | |
10 | g.122506744G>A | CA471666729 | HTRA1 | c.831G>A (p.Glu277=) c.513G>A (p.Glu171=) c.54G>A (p.Glu18=) | |
10 | g.122506744G>C | CA378585426 | HTRA1 | c.831G>C (p.Glu277Asp) c.513G>C (p.Glu171Asp) c.54G>C (p.Glu18Asp) | |
10 | g.122506744G>T | CA378585428 | HTRA1 | c.831G>T (p.Glu277Asp) c.513G>T (p.Glu171Asp) c.54G>T (p.Glu18Asp) | |
10 | g.122506744_122506745delinsGT | CA1941477208 | HTRA1 | c.831_832delinsGT (p.Glu277=) c.513_514delinsGT (p.Glu171=) c.54_55delinsGT (p.Glu18=) | |
10 | g.122506745T>A | CA378585430 | HTRA1 | c.832T>A (p.Phe278Ile) c.514T>A (p.Phe172Ile) c.55T>A (p.Phe19Ile) | |
10 | g.122506745T>C | CA5725941 | HTRA1 | c.832T>C (p.Phe278Leu) c.514T>C (p.Phe172Leu) c.55T>C (p.Phe19Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506745T>G | CA378585434 | HTRA1 | c.832T>G (p.Phe278Val) c.514T>G (p.Phe172Val) c.55T>G (p.Phe19Val) | dbSNP |
10 | g.122506745T= | CA1941477209 | HTRA1 | c.832T= (p.Phe278=) c.514T= (p.Phe172=) c.55T= (p.Phe19=) | |
10 | g.122506746del | CA596579032 | HTRA1 | c.833del (p.Phe278SerfsTer20) c.515del (p.Phe172SerfsTer20) c.56del (p.Phe19SerfsTer20) | dbSNP gnomAD v2 |
10 | g.122506746T>A | CA378585438 | HTRA1 | c.833T>A (p.Phe278Tyr) c.515T>A (p.Phe172Tyr) c.56T>A (p.Phe19Tyr) | |
10 | g.122506746T>C | CA378585440 | HTRA1 | c.833T>C (p.Phe278Ser) c.515T>C (p.Phe172Ser) c.56T>C (p.Phe19Ser) | |
10 | g.122506746T>G | CA378585443 | HTRA1 | c.833T>G (p.Phe278Cys) c.515T>G (p.Phe172Cys) c.56T>G (p.Phe19Cys) | |
10 | g.122506747C>A | CA378585444 | HTRA1 | c.834C>A (p.Phe278Leu) c.516C>A (p.Phe172Leu) c.57C>A (p.Phe19Leu) | gnomAD v4 |
10 | g.122506747C= | CA1941477210 | HTRA1 | c.834C= (p.Phe278=) c.516C= (p.Phe172=) c.57C= (p.Phe19=) | |
10 | g.122506747C>G | CA378585447 | HTRA1 | c.834C>G (p.Phe278Leu) c.516C>G (p.Phe172Leu) c.57C>G (p.Phe19Leu) | |
10 | g.122506747C>T | CA5725942 | HTRA1 | c.834C>T (p.Phe278=) c.516C>T (p.Phe172=) c.57C>T (p.Phe19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506748G>A | CA5725943 | HTRA1 | c.835G>A (p.Val279Met) c.517G>A (p.Val173Met) c.58G>A (p.Val20Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506748G>C | CA378585452 | HTRA1 | c.835G>C (p.Val279Leu) c.517G>C (p.Val173Leu) c.58G>C (p.Val20Leu) | gnomAD v4 |
10 | g.122506748G= | CA1941477211 | HTRA1 | c.835G= (p.Val279=) c.517G= (p.Val173=) c.58G= (p.Val20=) | |
10 | g.122506748G>T | CA378585449 | HTRA1 | c.835G>T (p.Val279Leu) c.517G>T (p.Val173Leu) c.58G>T (p.Val20Leu) | gnomAD v4 |
10 | g.122506749T>A | CA378585456 | HTRA1 | c.836T>A (p.Val279Glu) c.518T>A (p.Val173Glu) c.59T>A (p.Val20Glu) | |
10 | g.122506749T>C | CA378585457 | HTRA1 | c.836T>C (p.Val279Ala) c.518T>C (p.Val173Ala) c.59T>C (p.Val20Ala) | |
10 | g.122506749T>G | CA378585458 | HTRA1 | c.836T>G (p.Val279Gly) c.518T>G (p.Val173Gly) c.59T>G (p.Val20Gly) | |
10 | g.122506750G>A | CA5725944 | HTRA1 | c.837G>A (p.Val279=) c.519G>A (p.Val173=) c.60G>A (p.Val20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506750G>C | CA471666745 | HTRA1 | c.837G>C (p.Val279=) c.519G>C (p.Val173=) c.60G>C (p.Val20=) | |
10 | g.122506750G= | CA1941477212 | HTRA1 | c.837G= (p.Val279=) c.519G= (p.Val173=) c.60G= (p.Val20=) | |
10 | g.122506750G>T | CA471666744 | HTRA1 | c.837G>T (p.Val279=) c.519G>T (p.Val173=) c.60G>T (p.Val20=) | |
10 | g.122506751G>A | CA5725945 | HTRA1 | c.838G>A (p.Val280Ile) c.520G>A (p.Val174Ile) c.61G>A (p.Val21Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506751G>C | CA378585464 | HTRA1 | c.838G>C (p.Val280Leu) c.520G>C (p.Val174Leu) c.61G>C (p.Val21Leu) | dbSNP |
10 | g.122506751G= | CA1941477213 | HTRA1 | c.838G= (p.Val280=) c.520G= (p.Val174=) c.61G= (p.Val21=) | |
10 | g.122506751G>T | CA378585466 | HTRA1 | c.838G>T (p.Val280Phe) c.520G>T (p.Val174Phe) c.61G>T (p.Val21Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506752T>A | CA378585467 | HTRA1 | c.839T>A (p.Val280Asp) c.521T>A (p.Val174Asp) c.62T>A (p.Val21Asp) | |
10 | g.122506752T>C | CA378585469 | HTRA1 | c.839T>C (p.Val280Ala) c.521T>C (p.Val174Ala) c.62T>C (p.Val21Ala) | |
10 | g.122506752T>G | CA378585471 | HTRA1 | c.839T>G (p.Val280Gly) c.521T>G (p.Val174Gly) c.62T>G (p.Val21Gly) | |
10 | g.122506755_122506760dup | CA2697558800 | HTRA1 | c.842_847dup (p.Ile282_Gly283insAlaIle) c.524_529dup (p.Ile176_Gly177insAlaIle) c.65_70dup (p.Ile23_Gly24insAlaIle) | ClinVar |
10 | g.122506753C>A | CA5725947 | HTRA1 | c.840C>A (p.Val280=) c.522C>A (p.Val174=) c.63C>A (p.Val21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506753C= | CA1941477214 | HTRA1 | c.840C= (p.Val280=) c.522C= (p.Val174=) c.63C= (p.Val21=) | |
10 | g.122506753C>G | CA471666753 | HTRA1 | c.840C>G (p.Val280=) c.522C>G (p.Val174=) c.63C>G (p.Val21=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506753C>T | CA5725946 | HTRA1 | c.840C>T (p.Val280=) c.522C>T (p.Val174=) c.63C>T (p.Val21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506754G>A | CA5725948 | HTRA1 | c.841G>A (p.Ala281Thr) c.523G>A (p.Ala175Thr) c.64G>A (p.Ala22Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506754G>C | CA378585474 | HTRA1 | c.841G>C (p.Ala281Pro) c.523G>C (p.Ala175Pro) c.64G>C (p.Ala22Pro) | |
10 | g.122506754G= | CA1941477215 | HTRA1 | c.841G= (p.Ala281=) c.523G= (p.Ala175=) c.64G= (p.Ala22=) | |
10 | g.122506754G>T | CA214411292 | HTRA1 | c.841G>T (p.Ala281Ser) c.523G>T (p.Ala175Ser) c.64G>T (p.Ala22Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506755C>A | CA378585476 | HTRA1 | c.842C>A (p.Ala281Asp) c.524C>A (p.Ala175Asp) c.65C>A (p.Ala22Asp) | |
10 | g.122506755C>G | CA378585477 | HTRA1 | c.842C>G (p.Ala281Gly) c.524C>G (p.Ala175Gly) c.65C>G (p.Ala22Gly) | |
10 | g.122506755C>T | CA378585479 | HTRA1 | c.842C>T (p.Ala281Val) c.524C>T (p.Ala175Val) c.65C>T (p.Ala22Val) | |
10 | g.122506756C>A | CA471666762 | HTRA1 | c.843C>A (p.Ala281=) c.525C>A (p.Ala175=) c.66C>A (p.Ala22=) | |
10 | g.122506756C= | CA1941477216 | HTRA1 | c.843C= (p.Ala281=) c.525C= (p.Ala175=) c.66C= (p.Ala22=) | |
10 | g.122506756C>G | CA471666764 | HTRA1 | c.843C>G (p.Ala281=) c.525C>G (p.Ala175=) c.66C>G (p.Ala22=) | |
10 | g.122506756C>T | CA5725949 | HTRA1 | c.843C>T (p.Ala281=) c.525C>T (p.Ala175=) c.66C>T (p.Ala22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506757A= | CA1941477217 | HTRA1 | c.844A= (p.Ile282=) c.526A= (p.Ile176=) c.67A= (p.Ile23=) | |
10 | g.122506757A>C | CA378585482 | HTRA1 | c.844A>C (p.Ile282Leu) c.526A>C (p.Ile176Leu) c.67A>C (p.Ile23Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506757A>G | CA378585485 | HTRA1 | c.844A>G (p.Ile282Val) c.526A>G (p.Ile176Val) c.67A>G (p.Ile23Val) | gnomAD v4 |
10 | g.122506757A>T | CA378585486 | HTRA1 | c.844A>T (p.Ile282Phe) c.526A>T (p.Ile176Phe) c.67A>T (p.Ile23Phe) | |
10 | g.122506758T>A | CA378585487 | HTRA1 | c.845T>A (p.Ile282Asn) c.527T>A (p.Ile176Asn) c.68T>A (p.Ile23Asn) | |
10 | g.122506758T>C | CA5725950 | HTRA1 | c.845T>C (p.Ile282Thr) c.527T>C (p.Ile176Thr) c.68T>C (p.Ile23Thr) | dbSNP ExAC gnomAD v2 |
10 | g.122506758T>G | CA378585489 | HTRA1 | c.845T>G (p.Ile282Ser) c.527T>G (p.Ile176Ser) c.68T>G (p.Ile23Ser) | |
10 | g.122506758T= | CA1941477218 | HTRA1 | c.845T= (p.Ile282=) c.527T= (p.Ile176=) c.68T= (p.Ile23=) | |
10 | g.122506759C>A | CA5725952 | HTRA1 | c.846C>A (p.Ile282=) c.528C>A (p.Ile176=) c.69C>A (p.Ile23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506759C= | CA1941477219 | HTRA1 | c.846C= (p.Ile282=) c.528C= (p.Ile176=) c.69C= (p.Ile23=) | |
10 | g.122506759C>G | CA378585493 | HTRA1 | c.846C>G (p.Ile282Met) c.528C>G (p.Ile176Met) c.69C>G (p.Ile23Met) | gnomAD v4 |
10 | g.122506759C>T | CA5725951 | HTRA1 | c.846C>T (p.Ile282=) c.528C>T (p.Ile176=) c.69C>T (p.Ile23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506760G>A | CA5725953 | HTRA1 | c.847G>A (p.Gly283Arg) c.529G>A (p.Gly177Arg) c.70G>A (p.Gly24Arg) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
10 | g.122506760G>C | CA378585498 | HTRA1 | c.847G>C (p.Gly283Arg) c.529G>C (p.Gly177Arg) c.70G>C (p.Gly24Arg) | gnomAD v4 |
10 | g.122506760G= | CA1941477220 | HTRA1 | c.847G= (p.Gly283=) c.529G= (p.Gly177=) c.70G= (p.Gly24=) | |
10 | g.122506760G>T | CA378585495 | HTRA1 | c.847G>T (p.Gly283Ter) c.529G>T (p.Gly177Ter) c.70G>T (p.Gly24Ter) | dbSNP |
10 | g.122506761G>A | CA378585501 | HTRA1 | c.848G>A (p.Gly283Glu) c.530G>A (p.Gly177Glu) c.71G>A (p.Gly24Glu) | |
10 | g.122506761G>C | CA5725954 | HTRA1 | c.848G>C (p.Gly283Ala) c.530G>C (p.Gly177Ala) c.71G>C (p.Gly24Ala) | dbSNP ExAC gnomAD v2 |
10 | g.122506761G= | CA1941477221 | HTRA1 | c.848G= (p.Gly283=) c.530G= (p.Gly177=) c.71G= (p.Gly24=) | |
10 | g.122506761G>T | CA378585503 | HTRA1 | c.848G>T (p.Gly283Val) c.530G>T (p.Gly177Val) c.71G>T (p.Gly24Val) | |
10 | g.122506762A= | CA1941477222 | HTRA1 | c.849A= (p.Gly283=) c.531A= (p.Gly177=) c.72A= (p.Gly24=) | |
10 | g.122506762A>C | CA471666779 | HTRA1 | c.849A>C (p.Gly283=) c.531A>C (p.Gly177=) c.72A>C (p.Gly24=) | |
10 | g.122506762A>G | CA5725955 | HTRA1 | c.849A>G (p.Gly283=) c.531A>G (p.Gly177=) c.72A>G (p.Gly24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506762A>T | CA471666781 | HTRA1 | c.849A>T (p.Gly283=) c.531A>T (p.Gly177=) c.72A>T (p.Gly24=) | |
10 | g.122506763A= | CA1941477223 | HTRA1 | c.850A= (p.Ser284=) c.532A= (p.Ser178=) c.73A= (p.Ser25=) | |
10 | g.122506763A>C | CA378585511 | HTRA1 | c.850A>C (p.Ser284Arg) c.532A>C (p.Ser178Arg) c.73A>C (p.Ser25Arg) | |
10 | g.122506763A>G | CA378585507 | HTRA1 | c.850A>G (p.Ser284Gly) c.532A>G (p.Ser178Gly) c.73A>G (p.Ser25Gly) | |
10 | g.122506763A>T | CA378585509 | HTRA1 | c.850A>T (p.Ser284Cys) c.532A>T (p.Ser178Cys) c.73A>T (p.Ser25Cys) | |
10 | g.122506764G>A | CA378585513 | HTRA1 | c.851G>A (p.Ser284Asn) c.533G>A (p.Ser178Asn) c.74G>A (p.Ser25Asn) | |
10 | g.122506764G>C | CA378585515 | HTRA1 | c.851G>C (p.Ser284Thr) c.533G>C (p.Ser178Thr) c.74G>C (p.Ser25Thr) | |
10 | g.122506764G>T | CA378585517 | HTRA1 | c.851G>T (p.Ser284Ile) c.533G>T (p.Ser178Ile) c.74G>T (p.Ser25Ile) | |
10 | g.122506764dup | CA918779412 | HTRA1 | c.851dup (p.Ser284ArgfsTer?) c.533dup (p.Ser178ArgfsTer?) c.74dup (p.Ser25ArgfsTer?) | dbSNP |
10 | g.122506765C>A | CA350890 | HTRA1 | c.852C>A (p.Ser284Arg) c.534C>A (p.Ser178Arg) c.75C>A (p.Ser25Arg) | ClinVar dbSNP |
10 | g.122506765C= | CA1941477224 | HTRA1 | c.852C= (p.Ser284=) c.534C= (p.Ser178=) c.75C= (p.Ser25=) | |
10 | g.122506765C>G | CA378585519 | HTRA1 | c.852C>G (p.Ser284Arg) c.534C>G (p.Ser178Arg) c.75C>G (p.Ser25Arg) | |
10 | g.122506765C>T | CA471666795 | HTRA1 | c.852C>T (p.Ser284=) c.534C>T (p.Ser178=) c.75C>T (p.Ser25=) | |
10 | g.122506766C>A | CA378585522 | HTRA1 | c.853C>A (p.Pro285Thr) c.535C>A (p.Pro179Thr) c.76C>A (p.Pro26Thr) | |
10 | g.122506766C>G | CA378585526 | HTRA1 | c.853C>G (p.Pro285Ala) c.535C>G (p.Pro179Ala) c.76C>G (p.Pro26Ala) | |
10 | g.122506766C>T | CA378585524 | HTRA1 | c.853C>T (p.Pro285Ser) c.535C>T (p.Pro179Ser) c.76C>T (p.Pro26Ser) | |
10 | g.122506767C>A | CA378585528 | HTRA1 | c.854C>A (p.Pro285Gln) c.536C>A (p.Pro179Gln) c.77C>A (p.Pro26Gln) | |
10 | g.122506767C= | CA1941477225 | HTRA1 | c.854C= (p.Pro285=) c.536C= (p.Pro179=) c.77C= (p.Pro26=) | |
10 | g.122506767C>G | CA378585530 | HTRA1 | c.854C>G (p.Pro285Arg) c.536C>G (p.Pro179Arg) c.77C>G (p.Pro26Arg) | |
10 | g.122506767C>T | CA345925 | HTRA1 | c.854C>T (p.Pro285Leu) c.536C>T (p.Pro179Leu) c.77C>T (p.Pro26Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506768G>A | CA5725956 | HTRA1 | c.855G>A (p.Pro285=) c.537G>A (p.Pro179=) c.78G>A (p.Pro26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506768G>C | CA471666804 | HTRA1 | c.855G>C (p.Pro285=) c.537G>C (p.Pro179=) c.78G>C (p.Pro26=) | dbSNP |
10 | g.122506768G= | CA1941477226 | HTRA1 | c.855G= (p.Pro285=) c.537G= (p.Pro179=) c.78G= (p.Pro26=) | |
10 | g.122506768G>T | CA471666805 | HTRA1 | c.855G>T (p.Pro285=) c.537G>T (p.Pro179=) c.78G>T (p.Pro26=) | |
10 | g.122506769T>A | CA378585534 | HTRA1 | c.856T>A (p.Phe286Ile) c.538T>A (p.Phe180Ile) c.79T>A (p.Phe27Ile) | |
10 | g.122506769T>C | CA378585537 | HTRA1 | c.856T>C (p.Phe286Leu) c.538T>C (p.Phe180Leu) c.79T>C (p.Phe27Leu) | |
10 | g.122506769T>G | CA378585536 | HTRA1 | c.856T>G (p.Phe286Val) c.538T>G (p.Phe180Val) c.79T>G (p.Phe27Val) | |
10 | g.122506770T>A | CA378585539 | HTRA1 | c.857T>A (p.Phe286Tyr) c.539T>A (p.Phe180Tyr) c.80T>A (p.Phe27Tyr) | |
10 | g.122506770T>C | CA378585540 | HTRA1 | c.857T>C (p.Phe286Ser) c.539T>C (p.Phe180Ser) c.80T>C (p.Phe27Ser) | ClinVar |
10 | g.122506770T>G | CA378585541 | HTRA1 | c.857T>G (p.Phe286Cys) c.539T>G (p.Phe180Cys) c.80T>G (p.Phe27Cys) | |
10 | g.122506771T>A | CA378585543 | HTRA1 | c.858T>A (p.Phe286Leu) c.540T>A (p.Phe180Leu) c.81T>A (p.Phe27Leu) | |
10 | g.122506771T>C | CA471666813 | HTRA1 | c.858T>C (p.Phe286=) c.540T>C (p.Phe180=) c.81T>C (p.Phe27=) | |
10 | g.122506771T>G | CA378585544 | HTRA1 | c.858T>G (p.Phe286Leu) c.540T>G (p.Phe180Leu) c.81T>G (p.Phe27Leu) | |
10 | g.122506772T>A | CA378585546 | HTRA1 | c.859T>A (p.Ser287Thr) c.541T>A (p.Ser181Thr) c.82T>A (p.Ser28Thr) | |
10 | g.122506772T>C | CA378585547 | HTRA1 | c.859T>C (p.Ser287Pro) c.541T>C (p.Ser181Pro) c.82T>C (p.Ser28Pro) | ClinVar |
10 | g.122506772T>G | CA378585549 | HTRA1 | c.859T>G (p.Ser287Ala) c.541T>G (p.Ser181Ala) c.82T>G (p.Ser28Ala) | |
10 | g.122506773C>A | CA378585550 | HTRA1 | c.860C>A (p.Ser287Tyr) c.542C>A (p.Ser181Tyr) c.83C>A (p.Ser28Tyr) | |
10 | g.122506773C>G | CA378585551 | HTRA1 | c.860C>G (p.Ser287Cys) c.542C>G (p.Ser181Cys) c.83C>G (p.Ser28Cys) | |
10 | g.122506773C>T | CA378585554 | HTRA1 | c.860C>T (p.Ser287Phe) c.542C>T (p.Ser181Phe) c.83C>T (p.Ser28Phe) | |
10 | g.122506773_122506774delinsTT | CA645568693 | HTRA1 | c.860_861delinsTT (p.Ser287Phe) c.542_543delinsTT (p.Ser181Phe) c.83_84delinsTT (p.Ser28Phe) | COSMIC |
10 | g.122506774C>A | CA471666819 | HTRA1 | c.861C>A (p.Ser287=) c.543C>A (p.Ser181=) c.84C>A (p.Ser28=) | |
10 | g.122506774C>G | CA471666820 | HTRA1 | c.861C>G (p.Ser287=) c.543C>G (p.Ser181=) c.84C>G (p.Ser28=) | |
10 | g.122506774C>T | CA471666822 | HTRA1 | c.861C>T (p.Ser287=) c.543C>T (p.Ser181=) c.84C>T (p.Ser28=) | |
10 | g.122506775C>A | CA378585555 | HTRA1 | c.862C>A (p.Leu288Ile) c.544C>A (p.Leu182Ile) c.85C>A (p.Leu29Ile) | |
10 | g.122506775C>G | CA378585559 | HTRA1 | c.862C>G (p.Leu288Val) c.544C>G (p.Leu182Val) c.85C>G (p.Leu29Val) | |
10 | g.122506775C>T | CA378585557 | HTRA1 | c.862C>T (p.Leu288Phe) c.544C>T (p.Leu182Phe) c.85C>T (p.Leu29Phe) | |
10 | g.122506776T>A | CA378585561 | HTRA1 | c.863T>A (p.Leu288His) c.545T>A (p.Leu182His) c.86T>A (p.Leu29His) | |
10 | g.122506776T>C | CA378585563 | HTRA1 | c.863T>C (p.Leu288Pro) c.545T>C (p.Leu182Pro) c.86T>C (p.Leu29Pro) | |
10 | g.122506776T>G | CA378585565 | HTRA1 | c.863T>G (p.Leu288Arg) c.545T>G (p.Leu182Arg) c.86T>G (p.Leu29Arg) | |
10 | g.122506777T>A | CA471666832 | HTRA1 | c.864T>A (p.Leu288=) c.546T>A (p.Leu182=) c.87T>A (p.Leu29=) | |
10 | g.122506777T>C | CA471666828 | HTRA1 | c.864T>C (p.Leu288=) c.546T>C (p.Leu182=) c.87T>C (p.Leu29=) | |
10 | g.122506777T>G | CA471666829 | HTRA1 | c.864T>G (p.Leu288=) c.546T>G (p.Leu182=) c.87T>G (p.Leu29=) | |
10 | g.122506778C>A | CA378585567 | HTRA1 | c.865C>A (p.Gln289Lys) c.547C>A (p.Gln183Lys) c.88C>A (p.Gln30Lys) | |
10 | g.122506778C= | CA1941477227 | HTRA1 | c.865C= (p.Gln289=) c.547C= (p.Gln183=) c.88C= (p.Gln30=) | |
10 | g.122506778C>G | CA378585569 | HTRA1 | c.865C>G (p.Gln289Glu) c.547C>G (p.Gln183Glu) c.88C>G (p.Gln30Glu) | |
10 | g.122506778C>T | CA378585571 | HTRA1 | c.865C>T (p.Gln289Ter) c.547C>T (p.Gln183Ter) c.88C>T (p.Gln30Ter) | ClinVar dbSNP |
10 | g.122506779A>C | CA378585573 | HTRA1 | c.866A>C (p.Gln289Pro) c.548A>C (p.Gln183Pro) c.89A>C (p.Gln30Pro) | |
10 | g.122506779A>G | CA378585577 | HTRA1 | c.866A>G (p.Gln289Arg) c.548A>G (p.Gln183Arg) c.89A>G (p.Gln30Arg) | |
10 | g.122506779A>T | CA378585578 | HTRA1 | c.866A>T (p.Gln289Leu) c.548A>T (p.Gln183Leu) c.89A>T (p.Gln30Leu) | |
10 | g.122506780A>C | CA378585580 | HTRA1 | c.867A>C (p.Gln289His) c.549A>C (p.Gln183His) c.90A>C (p.Gln30His) | |
10 | g.122506780A>G | CA471666837 | HTRA1 | c.867A>G (p.Gln289=) c.549A>G (p.Gln183=) c.90A>G (p.Gln30=) | |
10 | g.122506780A>T | CA378585582 | HTRA1 | c.867A>T (p.Gln289His) c.549A>T (p.Gln183His) c.90A>T (p.Gln30His) | |
10 | g.122506781A>C | CA378585588 | HTRA1 | c.868A>C (p.Asn290His) c.550A>C (p.Asn184His) c.91A>C (p.Asn31His) | |
10 | g.122506781A>G | CA378585584 | HTRA1 | c.868A>G (p.Asn290Asp) c.550A>G (p.Asn184Asp) c.91A>G (p.Asn31Asp) | |
10 | g.122506781A>T | CA378585586 | HTRA1 | c.868A>T (p.Asn290Tyr) c.550A>T (p.Asn184Tyr) c.91A>T (p.Asn31Tyr) | |
10 | g.122506782A>C | CA378585590 | HTRA1 | c.869A>C (p.Asn290Thr) c.551A>C (p.Asn184Thr) c.92A>C (p.Asn31Thr) | |
10 | g.122506782A>G | CA378585591 | HTRA1 | c.869A>G (p.Asn290Ser) c.551A>G (p.Asn184Ser) c.92A>G (p.Asn31Ser) | |
10 | g.122506782A>T | CA378585594 | HTRA1 | c.869A>T (p.Asn290Ile) c.551A>T (p.Asn184Ile) c.92A>T (p.Asn31Ile) | |
10 | g.122506785_122506786del | CA2695212892 | HTRA1 | c.872_873del (p.Thr291SerfsTer?) c.554_555del (p.Thr185SerfsTer?) c.95_96del (p.Thr32SerfsTer?) | |
10 | g.122506783C>A | CA378585596 | HTRA1 | c.870C>A (p.Asn290Lys) c.552C>A (p.Asn184Lys) c.93C>A (p.Asn31Lys) | |
10 | g.122506783C>G | CA378585597 | HTRA1 | c.870C>G (p.Asn290Lys) c.552C>G (p.Asn184Lys) c.93C>G (p.Asn31Lys) | |
10 | g.122506783C>T | CA471666845 | HTRA1 | c.870C>T (p.Asn290=) c.552C>T (p.Asn184=) c.93C>T (p.Asn31=) | |
10 | g.122506784A>C | CA378585599 | HTRA1 | c.871A>C (p.Thr291Pro) c.553A>C (p.Thr185Pro) c.94A>C (p.Thr32Pro) | |
10 | g.122506784A>G | CA378585601 | HTRA1 | c.871A>G (p.Thr291Ala) c.553A>G (p.Thr185Ala) c.94A>G (p.Thr32Ala) | |
10 | g.122506784A>T | CA378585604 | HTRA1 | c.871A>T (p.Thr291Ser) c.553A>T (p.Thr185Ser) c.94A>T (p.Thr32Ser) | |
10 | g.122506785C>A | CA378585606 | HTRA1 | c.872C>A (p.Thr291Lys) c.554C>A (p.Thr185Lys) c.95C>A (p.Thr32Lys) | |
10 | g.122506785C>G | CA378585607 | HTRA1 | c.872C>G (p.Thr291Arg) c.554C>G (p.Thr185Arg) c.95C>G (p.Thr32Arg) | |
10 | g.122506785C>T | CA378585609 | HTRA1 | c.872C>T (p.Thr291Ile) c.554C>T (p.Thr185Ile) c.95C>T (p.Thr32Ile) | |
10 | g.122506786A= | CA1941477228 | HTRA1 | c.873A= (p.Thr291=) c.555A= (p.Thr185=) c.96A= (p.Thr32=) | |
10 | g.122506786A>C | CA471666851 | HTRA1 | c.873A>C (p.Thr291=) c.555A>C (p.Thr185=) c.96A>C (p.Thr32=) | dbSNP |
10 | g.122506786A>G | CA471666853 | HTRA1 | c.873A>G (p.Thr291=) c.555A>G (p.Thr185=) c.96A>G (p.Thr32=) | gnomAD v4 |
10 | g.122506786A>T | CA471666855 | HTRA1 | c.873A>T (p.Thr291=) c.555A>T (p.Thr185=) c.96A>T (p.Thr32=) | |
10 | g.122506787G>A | CA378585613 | HTRA1 | c.874G>A (p.Val292Ile) c.556G>A (p.Val186Ile) c.97G>A (p.Val33Ile) | |
10 | g.122506787G>C | CA378585614 | HTRA1 | c.874G>C (p.Val292Leu) c.556G>C (p.Val186Leu) c.97G>C (p.Val33Leu) | |
10 | g.122506787G>T | CA378585611 | HTRA1 | c.874G>T (p.Val292Phe) c.556G>T (p.Val186Phe) c.97G>T (p.Val33Phe) | |
10 | g.122506788T>A | CA378585620 | HTRA1 | c.875T>A (p.Val292Asp) c.557T>A (p.Val186Asp) c.98T>A (p.Val33Asp) | |
10 | g.122506788T>C | CA378585617 | HTRA1 | c.875T>C (p.Val292Ala) c.557T>C (p.Val186Ala) c.98T>C (p.Val33Ala) | |
10 | g.122506788T>G | CA378585619 | HTRA1 | c.875T>G (p.Val292Gly) c.557T>G (p.Val186Gly) c.98T>G (p.Val33Gly) | |
10 | g.122506789C>A | CA471666866 | HTRA1 | c.876C>A (p.Val292=) c.558C>A (p.Val186=) c.99C>A (p.Val33=) | |
10 | g.122506789C>G | CA471666867 | HTRA1 | c.876C>G (p.Val292=) c.558C>G (p.Val186=) c.99C>G (p.Val33=) | |
10 | g.122506789C>T | CA471666869 | HTRA1 | c.876C>T (p.Val292=) c.558C>T (p.Val186=) c.99C>T (p.Val33=) | |
10 | g.122506790A>C | CA378585621 | HTRA1 | c.877A>C (p.Thr293Pro) c.559A>C (p.Thr187Pro) c.100A>C (p.Thr34Pro) | |
10 | g.122506790A>G | CA378585624 | HTRA1 | c.877A>G (p.Thr293Ala) c.559A>G (p.Thr187Ala) c.100A>G (p.Thr34Ala) | gnomAD v4 |
10 | g.122506790A>T | CA378585625 | HTRA1 | c.877A>T (p.Thr293Ser) c.559A>T (p.Thr187Ser) c.100A>T (p.Thr34Ser) | |
10 | g.122506791C>A | CA378585628 | HTRA1 | c.878C>A (p.Thr293Asn) c.560C>A (p.Thr187Asn) c.101C>A (p.Thr34Asn) | |
10 | g.122506791C>G | CA378585630 | HTRA1 | c.878C>G (p.Thr293Ser) c.560C>G (p.Thr187Ser) c.101C>G (p.Thr34Ser) | |
10 | g.122506791C>T | CA378585632 | HTRA1 | c.878C>T (p.Thr293Ile) c.560C>T (p.Thr187Ile) c.101C>T (p.Thr34Ile) | |
10 | g.122506792C>A | CA471666877 | HTRA1 | c.879C>A (p.Thr293=) c.561C>A (p.Thr187=) c.102C>A (p.Thr34=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506792C= | CA1941477229 | HTRA1 | c.879C= (p.Thr293=) c.561C= (p.Thr187=) c.102C= (p.Thr34=) | |
10 | g.122506792C>G | CA471666878 | HTRA1 | c.879C>G (p.Thr293=) c.561C>G (p.Thr187=) c.102C>G (p.Thr34=) | |
10 | g.122506792C>T | CA5725957 | HTRA1 | c.879C>T (p.Thr293=) c.561C>T (p.Thr187=) c.102C>T (p.Thr34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506793A= | CA1941477230 | HTRA1 | c.880A= (p.Thr294=) c.562A= (p.Thr188=) c.103A= (p.Thr35=) | |
10 | g.122506793A>C | CA378585635 | HTRA1 | c.880A>C (p.Thr294Pro) c.562A>C (p.Thr188Pro) c.103A>C (p.Thr35Pro) | |
10 | g.122506793A>G | CA378585637 | HTRA1 | c.880A>G (p.Thr294Ala) c.562A>G (p.Thr188Ala) c.103A>G (p.Thr35Ala) | dbSNP gnomAD v4 |
10 | g.122506793A>T | CA378585639 | HTRA1 | c.880A>T (p.Thr294Ser) c.562A>T (p.Thr188Ser) c.103A>T (p.Thr35Ser) | |
10 | g.122506794C>A | CA378585645 | HTRA1 | c.881C>A (p.Thr294Asn) c.563C>A (p.Thr188Asn) c.104C>A (p.Thr35Asn) | |
10 | g.122506794C= | CA1941477231 | HTRA1 | c.881C= (p.Thr294=) c.563C= (p.Thr188=) c.104C= (p.Thr35=) | |
10 | g.122506794C>G | CA378585641 | HTRA1 | c.881C>G (p.Thr294Ser) c.563C>G (p.Thr188Ser) c.104C>G (p.Thr35Ser) | |
10 | g.122506794C>T | CA378585643 | HTRA1 | c.881C>T (p.Thr294Ile) c.563C>T (p.Thr188Ile) c.104C>T (p.Thr35Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506795C>A | CA471666887 | HTRA1 | c.882C>A (p.Thr294=) c.564C>A (p.Thr188=) c.105C>A (p.Thr35=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506795C= | CA1941477232 | HTRA1 | c.882C= (p.Thr294=) c.564C= (p.Thr188=) c.105C= (p.Thr35=) | |
10 | g.122506795C>G | CA5725958 | HTRA1 | c.882C>G (p.Thr294=) c.564C>G (p.Thr188=) c.105C>G (p.Thr35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506795C>T | CA5725959 | HTRA1 | c.882C>T (p.Thr294=) c.564C>T (p.Thr188=) c.105C>T (p.Thr35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506796G>A | CA342726 | HTRA1 | c.883G>A (p.Gly295Arg) c.565G>A (p.Gly189Arg) c.106G>A (p.Gly36Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122506796G>C | CA5725960 | HTRA1 | c.883G>C (p.Gly295Arg) c.565G>C (p.Gly189Arg) c.106G>C (p.Gly36Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506796G= | CA1941477233 | HTRA1 | c.883G= (p.Gly295=) c.565G= (p.Gly189=) c.106G= (p.Gly36=) | |
10 | g.122506796G>T | CA378585651 | HTRA1 | c.883G>T (p.Gly295Trp) c.565G>T (p.Gly189Trp) c.106G>T (p.Gly36Trp) | |
10 | g.122506797G>A | CA5725961 | HTRA1 | c.884G>A (p.Gly295Glu) c.566G>A (p.Gly189Glu) c.107G>A (p.Gly36Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506797G>C | CA378585653 | HTRA1 | c.884G>C (p.Gly295Ala) c.566G>C (p.Gly189Ala) c.107G>C (p.Gly36Ala) | |
10 | g.122506797G= | CA1941477234 | HTRA1 | c.884G= (p.Gly295=) c.566G= (p.Gly189=) c.107G= (p.Gly36=) | |
10 | g.122506797G>T | CA378585655 | HTRA1 | c.884G>T (p.Gly295Val) c.566G>T (p.Gly189Val) c.107G>T (p.Gly36Val) | |
10 | g.122506798G>A | CA471666900 | HTRA1 | c.885G>A (p.Gly295=) c.567G>A (p.Gly189=) c.108G>A (p.Gly36=) | |
10 | g.122506798G>C | CA471666901 | HTRA1 | c.885G>C (p.Gly295=) c.567G>C (p.Gly189=) c.108G>C (p.Gly36=) | |
10 | g.122506798G>T | CA471666904 | HTRA1 | c.885G>T (p.Gly295=) c.567G>T (p.Gly189=) c.108G>T (p.Gly36=) | |
10 | g.122506799A>C | CA378585657 | HTRA1 | c.886A>C (p.Ile296Leu) c.568A>C (p.Ile190Leu) c.109A>C (p.Ile37Leu) | |
10 | g.122506799A>G | CA378585659 | HTRA1 | c.886A>G (p.Ile296Val) c.568A>G (p.Ile190Val) c.109A>G (p.Ile37Val) | |
10 | g.122506799A>T | CA378585661 | HTRA1 | c.886A>T (p.Ile296Phe) c.568A>T (p.Ile190Phe) c.109A>T (p.Ile37Phe) | |
10 | g.122506800T>A | CA378585665 | HTRA1 | c.887T>A (p.Ile296Asn) c.569T>A (p.Ile190Asn) c.110T>A (p.Ile37Asn) | |
10 | g.122506800T>C | CA214411347 | HTRA1 | c.887T>C (p.Ile296Thr) c.569T>C (p.Ile190Thr) c.110T>C (p.Ile37Thr) | dbSNP |
10 | g.122506800T>G | CA378585663 | HTRA1 | c.887T>G (p.Ile296Ser) c.569T>G (p.Ile190Ser) c.110T>G (p.Ile37Ser) | |
10 | g.122506800T= | CA1941477235 | HTRA1 | c.887T= (p.Ile296=) c.569T= (p.Ile190=) c.110T= (p.Ile37=) | |
10 | g.122506801C>A | CA471666913 | HTRA1 | c.888C>A (p.Ile296=) c.570C>A (p.Ile190=) c.111C>A (p.Ile37=) | |
10 | g.122506801C= | CA1941477236 | HTRA1 | c.888C= (p.Ile296=) c.570C= (p.Ile190=) c.111C= (p.Ile37=) | |
10 | g.122506801C>G | CA378585667 | HTRA1 | c.888C>G (p.Ile296Met) c.570C>G (p.Ile190Met) c.111C>G (p.Ile37Met) | ClinVar dbSNP |
10 | g.122506801C>T | CA5725962 | HTRA1 | c.888C>T (p.Ile296=) c.570C>T (p.Ile190=) c.111C>T (p.Ile37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506802G>A | CA340685 | HTRA1 | c.889G>A (p.Val297Met) c.571G>A (p.Val191Met) c.112G>A (p.Val38Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506802G>C | CA378585670 | HTRA1 | c.889G>C (p.Val297Leu) c.571G>C (p.Val191Leu) c.112G>C (p.Val38Leu) | |
10 | g.122506802G= | CA1941477237 | HTRA1 | c.889G= (p.Val297=) c.571G= (p.Val191=) c.112G= (p.Val38=) | |
10 | g.122506802G>T | CA378585672 | HTRA1 | c.889G>T (p.Val297Leu) c.571G>T (p.Val191Leu) c.112G>T (p.Val38Leu) | |
10 | g.122506803T>A | CA378585674 | HTRA1 | c.890T>A (p.Val297Glu) c.572T>A (p.Val191Glu) c.113T>A (p.Val38Glu) | |
10 | g.122506803T>C | CA378585675 | HTRA1 | c.890T>C (p.Val297Ala) c.572T>C (p.Val191Ala) c.113T>C (p.Val38Ala) | |
10 | g.122506803T>G | CA378585677 | HTRA1 | c.890T>G (p.Val297Gly) c.572T>G (p.Val191Gly) c.113T>G (p.Val38Gly) | |
10 | g.122506804G>A | CA471666921 | HTRA1 | c.891G>A (p.Val297=) c.573G>A (p.Val191=) c.114G>A (p.Val38=) | gnomAD v4 |
10 | g.122506804G>C | CA471666923 | HTRA1 | c.891G>C (p.Val297=) c.573G>C (p.Val191=) c.114G>C (p.Val38=) | |
10 | g.122506804G>T | CA471666922 | HTRA1 | c.891G>T (p.Val297=) c.573G>T (p.Val191=) c.114G>T (p.Val38=) | |
10 | g.122506805A>C | CA378585679 | HTRA1 | c.892A>C (p.Ser298Arg) c.574A>C (p.Ser192Arg) c.115A>C (p.Ser39Arg) | |
10 | g.122506805A>G | CA378585681 | HTRA1 | c.892A>G (p.Ser298Gly) c.574A>G (p.Ser192Gly) c.115A>G (p.Ser39Gly) | |
10 | g.122506805A>T | CA378585682 | HTRA1 | c.892A>T (p.Ser298Cys) c.574A>T (p.Ser192Cys) c.115A>T (p.Ser39Cys) | |
10 | g.122506806G>A | CA378585683 | HTRA1 | c.893G>A (p.Ser298Asn) c.575G>A (p.Ser192Asn) c.116G>A (p.Ser39Asn) | ClinVar dbSNP |
10 | g.122506806G>C | CA378585685 | HTRA1 | c.893G>C (p.Ser298Thr) c.575G>C (p.Ser192Thr) c.116G>C (p.Ser39Thr) | |
10 | g.122506806G>T | CA378585687 | HTRA1 | c.893G>T (p.Ser298Ile) c.575G>T (p.Ser192Ile) c.116G>T (p.Ser39Ile) | |
10 | g.122506807C>A | CA378585689 | HTRA1 | c.894C>A (p.Ser298Arg) c.576C>A (p.Ser192Arg) c.117C>A (p.Ser39Arg) | |
10 | g.122506807C>G | CA378585691 | HTRA1 | c.894C>G (p.Ser298Arg) c.576C>G (p.Ser192Arg) c.117C>G (p.Ser39Arg) | |
10 | g.122506807C>T | CA471666929 | HTRA1 | c.894C>T (p.Ser298=) c.576C>T (p.Ser192=) c.117C>T (p.Ser39=) | |
10 | g.122506808A>C | CA378585693 | HTRA1 | c.895A>C (p.Thr299Pro) c.577A>C (p.Thr193Pro) c.118A>C (p.Thr40Pro) | |
10 | g.122506808A>G | CA378585694 | HTRA1 | c.895A>G (p.Thr299Ala) c.577A>G (p.Thr193Ala) c.118A>G (p.Thr40Ala) | |
10 | g.122506808A>T | CA378585697 | HTRA1 | c.895A>T (p.Thr299Ser) c.577A>T (p.Thr193Ser) c.118A>T (p.Thr40Ser) | |
10 | g.122506809C>A | CA378585699 | HTRA1 | c.896C>A (p.Thr299Asn) c.578C>A (p.Thr193Asn) c.119C>A (p.Thr40Asn) | |
10 | g.122506809C>G | CA378585701 | HTRA1 | c.896C>G (p.Thr299Ser) c.578C>G (p.Thr193Ser) c.119C>G (p.Thr40Ser) | |
10 | g.122506809C>T | CA378585703 | HTRA1 | c.896C>T (p.Thr299Ile) c.578C>T (p.Thr193Ile) c.119C>T (p.Thr40Ile) | |
10 | g.122506810C>A | CA471666930 | HTRA1 | c.897C>A (p.Thr299=) c.579C>A (p.Thr193=) c.120C>A (p.Thr40=) | |
10 | g.122506810C>G | CA471666931 | HTRA1 | c.897C>G (p.Thr299=) c.579C>G (p.Thr193=) c.120C>G (p.Thr40=) | |
10 | g.122506810C>T | CA471666932 | HTRA1 | c.897C>T (p.Thr299=) c.579C>T (p.Thr193=) c.120C>T (p.Thr40=) | |
10 | g.122506811A>C | CA378585705 | HTRA1 | c.898A>C (p.Thr300Pro) c.580A>C (p.Thr194Pro) c.121A>C (p.Thr41Pro) | |
10 | g.122506811A>G | CA378585707 | HTRA1 | c.898A>G (p.Thr300Ala) c.580A>G (p.Thr194Ala) c.121A>G (p.Thr41Ala) | |
10 | g.122506811A>T | CA378585708 | HTRA1 | c.898A>T (p.Thr300Ser) c.580A>T (p.Thr194Ser) c.121A>T (p.Thr41Ser) | |
10 | g.122506812C>A | CA378585711 | HTRA1 | c.899C>A (p.Thr300Asn) c.581C>A (p.Thr194Asn) c.122C>A (p.Thr41Asn) | |
10 | g.122506812C>G | CA378585712 | HTRA1 | c.899C>G (p.Thr300Ser) c.581C>G (p.Thr194Ser) c.122C>G (p.Thr41Ser) | |
10 | g.122506812C>T | CA378585714 | HTRA1 | c.899C>T (p.Thr300Ile) c.581C>T (p.Thr194Ile) c.122C>T (p.Thr41Ile) | |
10 | g.122506813C>A | CA471666936 | HTRA1 | c.900C>A (p.Thr300=) c.582C>A (p.Thr194=) c.123C>A (p.Thr41=) | gnomAD v4 |
10 | g.122506813C= | CA1941477238 | HTRA1 | c.900C= (p.Thr300=) c.582C= (p.Thr194=) c.123C= (p.Thr41=) | |
10 | g.122506813C>G | CA471666937 | HTRA1 | c.900C>G (p.Thr300=) c.582C>G (p.Thr194=) c.123C>G (p.Thr41=) | gnomAD v4 |
10 | g.122506813C>T | CA214411368 | HTRA1 | c.900C>T (p.Thr300=) c.582C>T (p.Thr194=) c.123C>T (p.Thr41=) | dbSNP |
10 | g.122506814C>A | CA378585718 | HTRA1 | c.901C>A (p.Gln301Lys) c.583C>A (p.Gln195Lys) c.124C>A (p.Gln42Lys) | |
10 | g.122506814C>G | CA378585721 | HTRA1 | c.901C>G (p.Gln301Glu) c.583C>G (p.Gln195Glu) c.124C>G (p.Gln42Glu) | |
10 | g.122506814C>T | CA378585717 | HTRA1 | c.901C>T (p.Gln301Ter) c.583C>T (p.Gln195Ter) c.124C>T (p.Gln42Ter) | |
10 | g.122506815A>C | CA378585723 | HTRA1 | c.902A>C (p.Gln301Pro) c.584A>C (p.Gln195Pro) c.125A>C (p.Gln42Pro) | |
10 | g.122506815A>G | CA378585724 | HTRA1 | c.902A>G (p.Gln301Arg) c.584A>G (p.Gln195Arg) c.125A>G (p.Gln42Arg) | |
10 | g.122506815A>T | CA378585726 | HTRA1 | c.902A>T (p.Gln301Leu) c.584A>T (p.Gln195Leu) c.125A>T (p.Gln42Leu) | |
10 | g.122506816G>A | CA471666941 | HTRA1 | c.903G>A (p.Gln301=) c.585G>A (p.Gln195=) c.126G>A (p.Gln42=) | dbSNP |
10 | g.122506816G>C | CA378585727 | HTRA1 | c.903G>C (p.Gln301His) c.585G>C (p.Gln195His) c.126G>C (p.Gln42His) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506816G= | CA1941477239 | HTRA1 | c.903G= (p.Gln301=) c.585G= (p.Gln195=) c.126G= (p.Gln42=) | |
10 | g.122506816G>T | CA378585729 | HTRA1 | c.903G>T (p.Gln301His) c.585G>T (p.Gln195His) c.126G>T (p.Gln42His) | |
10 | g.122506817C>A | CA471666942 | HTRA1 | c.904C>A (p.Arg302=) c.586C>A (p.Arg196=) c.127C>A (p.Arg43=) | gnomAD v4 |
10 | g.122506817C= | CA1941477240 | HTRA1 | c.904C= (p.Arg302=) c.586C= (p.Arg196=) c.127C= (p.Arg43=) | |
10 | g.122506817C>G | CA378585731 | HTRA1 | c.904C>G (p.Arg302Gly) c.586C>G (p.Arg196Gly) c.127C>G (p.Arg43Gly) | |
10 | g.122506817C>T | CA340683 | HTRA1 | c.904C>T (p.Arg302Ter) c.586C>T (p.Arg196Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506818G>A | CA378585732 | HTRA1 | c.905G>A (p.Arg302Gln) c.587G>A (p.Arg196Gln) c.128G>A (p.Arg43Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.122506818G>C | CA378585734 | HTRA1 | c.905G>C (p.Arg302Pro) c.587G>C (p.Arg196Pro) c.128G>C (p.Arg43Pro) | |
10 | g.122506818G>T | CA378585735 | HTRA1 | c.905G>T (p.Arg302Leu) c.587G>T (p.Arg196Leu) c.128G>T (p.Arg43Leu) | |
10 | g.122506819A>C | CA471666944 | HTRA1 | c.906A>C (p.Arg302=) c.588A>C (p.Arg196=) c.129A>C (p.Arg43=) | |
10 | g.122506819A>G | CA471666945 | HTRA1 | c.906A>G (p.Arg302=) c.588A>G (p.Arg196=) c.129A>G (p.Arg43=) | |
10 | g.122506819A>T | CA471666946 | HTRA1 | c.906A>T (p.Arg302=) c.588A>T (p.Arg196=) c.129A>T (p.Arg43=) | |
10 | g.122506820G>A | CA5725963 | HTRA1 | c.907G>A (p.Gly303Ser) c.589G>A (p.Gly197Ser) c.130G>A (p.Gly44Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506820G>C | CA378585738 | HTRA1 | c.907G>C (p.Gly303Arg) c.589G>C (p.Gly197Arg) c.130G>C (p.Gly44Arg) | gnomAD v4 |
10 | g.122506820G= | CA1941477241 | HTRA1 | c.907G= (p.Gly303=) c.589G= (p.Gly197=) c.130G= (p.Gly44=) | |
10 | g.122506820G>T | CA378585740 | HTRA1 | c.907G>T (p.Gly303Cys) c.589G>T (p.Gly197Cys) c.130G>T (p.Gly44Cys) | |
10 | g.122506821G>A | CA378585743 | HTRA1 | c.908G>A (p.Gly303Asp) c.590G>A (p.Gly197Asp) c.131G>A (p.Gly44Asp) | |
10 | g.122506821G>C | CA378585742 | HTRA1 | c.908G>C (p.Gly303Ala) c.590G>C (p.Gly197Ala) c.131G>C (p.Gly44Ala) | |
10 | g.122506821G>T | CA378585741 | HTRA1 | c.908G>T (p.Gly303Val) c.590G>T (p.Gly197Val) c.131G>T (p.Gly44Val) | |
10 | g.122506822C>A | CA471666948 | HTRA1 | c.909C>A (p.Gly303=) c.591C>A (p.Gly197=) c.132C>A (p.Gly44=) | |
10 | g.122506822C= | CA1941477242 | HTRA1 | c.909C= (p.Gly303=) c.591C= (p.Gly197=) c.132C= (p.Gly44=) | |
10 | g.122506822C>G | CA471666949 | HTRA1 | c.909C>G (p.Gly303=) c.591C>G (p.Gly197=) c.132C>G (p.Gly44=) | |
10 | g.122506822C>T | CA5725964 | HTRA1 | c.909C>T (p.Gly303=) c.591C>T (p.Gly197=) c.132C>T (p.Gly44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>A | CA378585744 | HTRA1 | c.910G>A (p.Gly304Ser) c.592G>A (p.Gly198Ser) c.133G>A (p.Gly45Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>C | CA378585745 | HTRA1 | c.910G>C (p.Gly304Arg) c.592G>C (p.Gly198Arg) c.133G>C (p.Gly45Arg) | ClinVar |
10 | g.122506823G= | CA1941477243 | HTRA1 | c.910G= (p.Gly304=) c.592G= (p.Gly198=) c.133G= (p.Gly45=) | |
10 | g.122506823G>T | CA378585746 | HTRA1 | c.910G>T (p.Gly304Cys) c.592G>T (p.Gly198Cys) c.133G>T (p.Gly45Cys) | |
10 | g.122506824G>A | CA378585747 | HTRA1 | c.911G>A (p.Gly304Asp) c.593G>A (p.Gly198Asp) c.134G>A (p.Gly45Asp) | COSMIC |
10 | g.122506824G>C | CA378585748 | HTRA1 | c.911G>C (p.Gly304Ala) c.593G>C (p.Gly198Ala) c.134G>C (p.Gly45Ala) | |
10 | g.122506824G>T | CA378585749 | HTRA1 | c.911G>T (p.Gly304Val) c.593G>T (p.Gly198Val) c.134G>T (p.Gly45Val) |