Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
10 | g.122508760A>G | CA471667163 | HTRA1 | c.1110A>G (p.Arg370=) c.792A>G (p.Arg264=) c.333A>G (p.Arg111=) | |
10 | g.122508760A>T | CA471667164 | HTRA1 | c.1110A>T (p.Arg370=) c.792A>T (p.Arg264=) c.333A>T (p.Arg111=) | |
10 | g.122508761C>A | CA378586920 | HTRA1 | c.1111C>A (p.Gln371Lys) c.793C>A (p.Gln265Lys) c.334C>A (p.Gln112Lys) | |
10 | g.122508761C>G | CA378586923 | HTRA1 | c.1111C>G (p.Gln371Glu) c.793C>G (p.Gln265Glu) c.334C>G (p.Gln112Glu) | |
10 | g.122508761C>T | CA378586925 | HTRA1 | c.1111C>T (p.Gln371Ter) c.793C>T (p.Gln265Ter) c.334C>T (p.Gln112Ter) | |
10 | g.122508762A>C | CA378586928 | HTRA1 | c.1112A>C (p.Gln371Pro) c.794A>C (p.Gln265Pro) c.335A>C (p.Gln112Pro) | |
10 | g.122508762A>G | CA378586929 | HTRA1 | c.1112A>G (p.Gln371Arg) c.794A>G (p.Gln265Arg) c.335A>G (p.Gln112Arg) | |
10 | g.122508762A>T | CA378586932 | HTRA1 | c.1112A>T (p.Gln371Leu) c.794A>T (p.Gln265Leu) c.335A>T (p.Gln112Leu) | |
10 | g.122508763G>A | CA5726045 | HTRA1 | c.1113G>A (p.Gln371=) c.795G>A (p.Gln265=) c.336G>A (p.Gln112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508763G>C | CA378586943 | HTRA1 | c.1113G>C (p.Gln371His) c.795G>C (p.Gln265His) c.336G>C (p.Gln112His) | |
10 | g.122508763G= | CA1941478127 | HTRA1 | c.1113G= (p.Gln371=) c.795G= (p.Gln265=) c.336G= (p.Gln112=) | |
10 | g.122508763G>T | CA378586939 | HTRA1 | c.1113G>T (p.Gln371His) c.795G>T (p.Gln265His) c.336G>T (p.Gln112His) | |
10 | g.122508764G>A | CA378586945 | HTRA1 | c.1114G>A (p.Ala372Thr) c.796G>A (p.Ala266Thr) c.337G>A (p.Ala113Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122508764G>C | CA378586947 | HTRA1 | c.1114G>C (p.Ala372Pro) c.796G>C (p.Ala266Pro) c.337G>C (p.Ala113Pro) | |
10 | g.122508764G= | CA1941478128 | HTRA1 | c.1114G= (p.Ala372=) c.796G= (p.Ala266=) c.337G= (p.Ala113=) | |
10 | g.122508764G>T | CA378586949 | HTRA1 | c.1114G>T (p.Ala372Ser) c.796G>T (p.Ala266Ser) c.337G>T (p.Ala113Ser) | dbSNP |
10 | g.122508765C>A | CA378586951 | HTRA1 | c.1115C>A (p.Ala372Asp) c.797C>A (p.Ala266Asp) c.338C>A (p.Ala113Asp) | gnomAD v4 |