Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
10 | g.122508754T>G | CA378586900 | HTRA1 | c.1104T>G (p.His368Gln) c.786T>G (p.His262Gln) c.327T>G (p.His109Gln) | |
10 | g.122508754T= | CA1941478124 | HTRA1 | c.1104T= (p.His368=) c.786T= (p.His262=) c.327T= (p.His109=) | |
10 | g.122508755G>A | CA378586903 | HTRA1 | c.1105G>A (p.Asp369Asn) c.787G>A (p.Asp263Asn) c.328G>A (p.Asp110Asn) | gnomAD v4 |
10 | g.122508755G>C | CA378586906 | HTRA1 | c.1105G>C (p.Asp369His) c.787G>C (p.Asp263His) c.328G>C (p.Asp110His) | |
10 | g.122508755G>T | CA378586905 | HTRA1 | c.1105G>T (p.Asp369Tyr) c.787G>T (p.Asp263Tyr) c.328G>T (p.Asp110Tyr) | gnomAD v4 |
10 | g.122508756A>C | CA378586908 | HTRA1 | c.1106A>C (p.Asp369Ala) c.788A>C (p.Asp263Ala) c.329A>C (p.Asp110Ala) | |
10 | g.122508756A>G | CA378586911 | HTRA1 | c.1106A>G (p.Asp369Gly) c.788A>G (p.Asp263Gly) c.329A>G (p.Asp110Gly) | |
10 | g.122508756A>T | CA378586910 | HTRA1 | c.1106A>T (p.Asp369Val) c.788A>T (p.Asp263Val) c.329A>T (p.Asp110Val) | |
10 | g.122508757C>A | CA378586912 | HTRA1 | c.1107C>A (p.Asp369Glu) c.789C>A (p.Asp263Glu) c.330C>A (p.Asp110Glu) | gnomAD v4 |
10 | g.122508757C>G | CA378586913 | HTRA1 | c.1107C>G (p.Asp369Glu) c.789C>G (p.Asp263Glu) c.330C>G (p.Asp110Glu) | |
10 | g.122508757C>T | CA471667160 | HTRA1 | c.1107C>T (p.Asp369=) c.789C>T (p.Asp263=) c.330C>T (p.Asp110=) | |
10 | g.122508758C>A | CA471667161 | HTRA1 | c.1108C>A (p.Arg370=) c.790C>A (p.Arg264=) c.331C>A (p.Arg111=) | gnomAD v4 |
10 | g.122508758C= | CA1941478125 | HTRA1 | c.1108C= (p.Arg370=) c.790C= (p.Arg264=) c.331C= (p.Arg111=) | |
10 | g.122508758C>G | CA378586915 | HTRA1 | c.1108C>G (p.Arg370Gly) c.790C>G (p.Arg264Gly) c.331C>G (p.Arg111Gly) | |
10 | g.122508758C>T | CA340681 | HTRA1 | c.1108C>T (p.Arg370Ter) c.790C>T (p.Arg264Ter) c.331C>T (p.Arg111Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508759G>A | CA5726043 | HTRA1 | c.1109G>A (p.Arg370Gln) c.791G>A (p.Arg264Gln) c.332G>A (p.Arg111Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508759G>C | CA5726044 | HTRA1 | c.1109G>C (p.Arg370Pro) c.791G>C (p.Arg264Pro) c.332G>C (p.Arg111Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508759G= | CA1941478126 | HTRA1 | c.1109G= (p.Arg370=) c.791G= (p.Arg264=) c.332G= (p.Arg111=) | |
10 | g.122508759G>T | CA378586919 | HTRA1 | c.1109G>T (p.Arg370Leu) c.791G>T (p.Arg264Leu) c.332G>T (p.Arg111Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508760A>C | CA471667162 | HTRA1 | c.1110A>C (p.Arg370=) c.792A>C (p.Arg264=) c.333A>C (p.Arg111=) |