Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122508741T>A | CA378586852 | HTRA1 | c.1091T>A (p.Leu364His) c.773T>A (p.Leu258His) c.314T>A (p.Leu105His) | |
10 | g.122508741T>C | CA345927 | HTRA1 | c.1091T>C (p.Leu364Pro) c.773T>C (p.Leu258Pro) c.314T>C (p.Leu105Pro) | ClinVar dbSNP |
10 | g.122508741T>G | CA378586855 | HTRA1 | c.1091T>G (p.Leu364Arg) c.773T>G (p.Leu258Arg) c.314T>G (p.Leu105Arg) | |
10 | g.122508741T= | CA1941478116 | HTRA1 | c.1091T= (p.Leu364=) c.773T= (p.Leu258=) c.314T= (p.Leu105=) | |
10 | g.122508742C>A | CA471667153 | HTRA1 | c.1092C>A (p.Leu364=) c.774C>A (p.Leu258=) c.315C>A (p.Leu105=) | |
10 | g.122508742C= | CA1941478117 | HTRA1 | c.1092C= (p.Leu364=) c.774C= (p.Leu258=) c.315C= (p.Leu105=) | |
10 | g.122508742C>G | CA471667152 | HTRA1 | c.1092C>G (p.Leu364=) c.774C>G (p.Leu258=) c.315C>G (p.Leu105=) | |
10 | g.122508742C>T | CA214412619 | HTRA1 | c.1092C>T (p.Leu364=) c.774C>T (p.Leu258=) c.315C>T (p.Leu105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508743A= | CA1941478118 | HTRA1 | c.1093A= (p.Thr365=) c.775A= (p.Thr259=) c.316A= (p.Thr106=) | |
10 | g.122508743A>C | CA378586856 | HTRA1 | c.1093A>C (p.Thr365Pro) c.775A>C (p.Thr259Pro) c.316A>C (p.Thr106Pro) | |
10 | g.122508743A>G | CA5726039 | HTRA1 | c.1093A>G (p.Thr365Ala) c.775A>G (p.Thr259Ala) c.316A>G (p.Thr106Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508743A>T | CA378586860 | HTRA1 | c.1093A>T (p.Thr365Ser) c.775A>T (p.Thr259Ser) c.316A>T (p.Thr106Ser) | |
10 | g.122508744C>A | CA378586862 | HTRA1 | c.1094C>A (p.Thr365Lys) c.776C>A (p.Thr259Lys) c.317C>A (p.Thr106Lys) | gnomAD v4 |
10 | g.122508744C= | CA1941478119 | HTRA1 | c.1094C= (p.Thr365=) c.776C= (p.Thr259=) c.317C= (p.Thr106=) | |
10 | g.122508744C>G | CA378586865 | HTRA1 | c.1094C>G (p.Thr365Arg) c.776C>G (p.Thr259Arg) c.317C>G (p.Thr106Arg) | |
10 | g.122508744C>T | CA5726040 | HTRA1 | c.1094C>T (p.Thr365Met) c.776C>T (p.Thr259Met) c.317C>T (p.Thr106Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508745G>A | CA5726041 | HTRA1 | c.1095G>A (p.Thr365=) c.777G>A (p.Thr259=) c.318G>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.122508745G>C | CA471667154 | HTRA1 | c.1095G>C (p.Thr365=) c.777G>C (p.Thr259=) c.318G>C (p.Thr106=) | ClinVar dbSNP |
10 | g.122508745G= | CA1941478120 | HTRA1 | c.1095G= (p.Thr365=) c.777G= (p.Thr259=) c.318G= (p.Thr106=) | |
10 | g.122508745G>T | CA471667155 | HTRA1 | c.1095G>T (p.Thr365=) c.777G>T (p.Thr259=) c.318G>T (p.Thr106=) | gnomAD v4 |
10 | g.122508746G>A | CA378586872 | HTRA1 | c.1096G>A (p.Glu366Lys) c.778G>A (p.Glu260Lys) c.319G>A (p.Glu107Lys) | |
10 | g.122508746G>C | CA378586873 | HTRA1 | c.1096G>C (p.Glu366Gln) c.778G>C (p.Glu260Gln) c.319G>C (p.Glu107Gln) | dbSNP |
10 | g.122508746G= | CA1941478121 | HTRA1 | c.1096G= (p.Glu366=) c.778G= (p.Glu260=) c.319G= (p.Glu107=) | |
10 | g.122508746G>T | CA378586874 | HTRA1 | c.1096G>T (p.Glu366Ter) c.778G>T (p.Glu260Ter) c.319G>T (p.Glu107Ter) | |
10 | g.122508747A>C | CA378586875 | HTRA1 | c.1097A>C (p.Glu366Ala) c.779A>C (p.Glu260Ala) c.320A>C (p.Glu107Ala) | |
10 | g.122508747A>G | CA378586876 | HTRA1 | c.1097A>G (p.Glu366Gly) c.779A>G (p.Glu260Gly) c.320A>G (p.Glu107Gly) | gnomAD v4 |
10 | g.122508747A>T | CA378586877 | HTRA1 | c.1097A>T (p.Glu366Val) c.779A>T (p.Glu260Val) c.320A>T (p.Glu107Val) | |
10 | g.122508748G>A | CA471667156 | HTRA1 | c.1098G>A (p.Glu366=) c.780G>A (p.Glu260=) c.321G>A (p.Glu107=) | |
10 | g.122508748G>C | CA378586879 | HTRA1 | c.1098G>C (p.Glu366Asp) c.780G>C (p.Glu260Asp) c.321G>C (p.Glu107Asp) | |
10 | g.122508748G>T | CA378586881 | HTRA1 | c.1098G>T (p.Glu366Asp) c.780G>T (p.Glu260Asp) c.321G>T (p.Glu107Asp) | |
10 | g.122508749T>A | CA378586882 | HTRA1 | c.1099T>A (p.Ser367Thr) c.781T>A (p.Ser261Thr) c.322T>A (p.Ser108Thr) | |
10 | g.122508749T>C | CA5726042 | HTRA1 | c.1099T>C (p.Ser367Pro) c.781T>C (p.Ser261Pro) c.322T>C (p.Ser108Pro) | dbSNP ExAC gnomAD v2 |
10 | g.122508749T>G | CA378586886 | HTRA1 | c.1099T>G (p.Ser367Ala) c.781T>G (p.Ser261Ala) c.322T>G (p.Ser108Ala) | |
10 | g.122508749T= | CA1941478122 | HTRA1 | c.1099T= (p.Ser367=) c.781T= (p.Ser261=) c.322T= (p.Ser108=) | |
10 | g.122508750C>A | CA378586887 | HTRA1 | c.1100C>A (p.Ser367Tyr) c.782C>A (p.Ser261Tyr) c.323C>A (p.Ser108Tyr) | |
10 | g.122508750C>G | CA378586888 | HTRA1 | c.1100C>G (p.Ser367Cys) c.782C>G (p.Ser261Cys) c.323C>G (p.Ser108Cys) | |
10 | g.122508750C>T | CA378586889 | HTRA1 | c.1100C>T (p.Ser367Phe) c.782C>T (p.Ser261Phe) c.323C>T (p.Ser108Phe) | |
10 | g.122508752del | CA2574697867 | HTRA1 | c.1102del (p.His368MetfsTer20) c.784del (p.His262MetfsTer20) c.325del (p.His109MetfsTer20) | |
10 | g.122508751C>A | CA471667157 | HTRA1 | c.1101C>A (p.Ser367=) c.783C>A (p.Ser261=) c.324C>A (p.Ser108=) | |
10 | g.122508751C>G | CA471667158 | HTRA1 | c.1101C>G (p.Ser367=) c.783C>G (p.Ser261=) c.324C>G (p.Ser108=) | gnomAD v4 |
10 | g.122508751C>T | CA471667159 | HTRA1 | c.1101C>T (p.Ser367=) c.783C>T (p.Ser261=) c.324C>T (p.Ser108=) | |
10 | g.122508752C>A | CA378586890 | HTRA1 | c.1102C>A (p.His368Asn) c.784C>A (p.His262Asn) c.325C>A (p.His109Asn) | |
10 | g.122508752C>G | CA378586892 | HTRA1 | c.1102C>G (p.His368Asp) c.784C>G (p.His262Asp) c.325C>G (p.His109Asp) | gnomAD v4 |
10 | g.122508752C>T | CA378586891 | HTRA1 | c.1102C>T (p.His368Tyr) c.784C>T (p.His262Tyr) c.325C>T (p.His109Tyr) | |
10 | g.122508753A= | CA1941478123 | HTRA1 | c.1103A= (p.His368=) c.785A= (p.His262=) c.326A= (p.His109=) | |
10 | g.122508753A>C | CA378586893 | HTRA1 | c.1103A>C (p.His368Pro) c.785A>C (p.His262Pro) c.326A>C (p.His109Pro) | |
10 | g.122508753A>G | CA378586896 | HTRA1 | c.1103A>G (p.His368Arg) c.785A>G (p.His262Arg) c.326A>G (p.His109Arg) | dbSNP gnomAD v4 |
10 | g.122508753A>T | CA378586895 | HTRA1 | c.1103A>T (p.His368Leu) c.785A>T (p.His262Leu) c.326A>T (p.His109Leu) | |
10 | g.122508754T>A | CA378586898 | HTRA1 | c.1104T>A (p.His368Gln) c.786T>A (p.His262Gln) c.327T>A (p.His109Gln) | |
10 | g.122508754T>C | CA214412641 | HTRA1 | c.1104T>C (p.His368=) c.786T>C (p.His262=) c.327T>C (p.His109=) | dbSNP gnomAD v3 gnomAD v4 |