Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73489778G>A | CA347264132 | ALMS1 | c.7438G>A (p.Ala2480Thr) c.830G>A c.4890G>A c.1885G>A (p.Ala629Thr) c.7819G>A (p.Ala2607Thr) c.896-29997G>A c.2650G>A (p.Ala884Thr) c.7693G>A (p.Ala2565Thr) n.1622G>A c.7822G>A (p.Ala2608Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489778G>C | CA347264133 | ALMS1 | c.7438G>C (p.Ala2480Pro) c.830G>C c.4890G>C c.1885G>C (p.Ala629Pro) c.7819G>C (p.Ala2607Pro) c.896-29997G>C c.2650G>C (p.Ala884Pro) c.7693G>C (p.Ala2565Pro) n.1622G>C c.7822G>C (p.Ala2608Pro) | gnomAD v4 |
2 | g.73489778G= | CA1260981155 | ALMS1 | c.7438G= (p.Ala2480=) c.830G= c.4890G= c.1885G= (p.Ala629=) c.7819G= (p.Ala2607=) c.896-29997G= c.2650G= (p.Ala884=) c.7693G= (p.Ala2565=) n.1622G= c.7822G= (p.Ala2608=) | |
2 | g.73489778G>T | CA347264134 | ALMS1 | c.7438G>T (p.Ala2480Ser) c.830G>T c.4890G>T c.1885G>T (p.Ala629Ser) c.7819G>T (p.Ala2607Ser) c.896-29997G>T c.2650G>T (p.Ala884Ser) c.7693G>T (p.Ala2565Ser) n.1622G>T c.7822G>T (p.Ala2608Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489779C>A | CA347264135 | ALMS1 | c.7439C>A (p.Ala2480Asp) c.831C>A c.4891C>A c.1886C>A (p.Ala629Asp) c.7820C>A (p.Ala2607Asp) c.896-29996C>A c.2651C>A (p.Ala884Asp) c.7694C>A (p.Ala2565Asp) n.1623C>A c.7823C>A (p.Ala2608Asp) | |
2 | g.73489779C= | CA1260981156 | ALMS1 | c.7439C= (p.Ala2480=) c.831C= c.4891C= c.1886C= (p.Ala629=) c.7820C= (p.Ala2607=) c.896-29996C= c.2651C= (p.Ala884=) c.7694C= (p.Ala2565=) n.1623C= c.7823C= (p.Ala2608=) | |
2 | g.73489779C>G | CA1714355 | ALMS1 | c.7439C>G (p.Ala2480Gly) c.831C>G c.4891C>G c.1886C>G (p.Ala629Gly) c.7820C>G (p.Ala2607Gly) c.896-29996C>G c.2651C>G (p.Ala884Gly) c.7694C>G (p.Ala2565Gly) n.1623C>G c.7823C>G (p.Ala2608Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489779C>T | CA347264137 | ALMS1 | c.7439C>T (p.Ala2480Val) c.831C>T c.4891C>T c.1886C>T (p.Ala629Val) c.7820C>T (p.Ala2607Val) c.896-29996C>T c.2651C>T (p.Ala884Val) c.7694C>T (p.Ala2565Val) n.1623C>T c.7823C>T (p.Ala2608Val) | gnomAD v4 |
2 | g.73489780T>A | CA426765839 | ALMS1 | c.7440T>A (p.Ala2480=) c.832T>A c.4892T>A c.1887T>A (p.Ala629=) c.7821T>A (p.Ala2607=) c.896-29995T>A c.2652T>A (p.Ala884=) c.7695T>A (p.Ala2565=) n.1624T>A c.7824T>A (p.Ala2608=) | |
2 | g.73489780T>C | CA50377528 | ALMS1 | c.7440T>C (p.Ala2480=) c.832T>C c.4892T>C c.1887T>C (p.Ala629=) c.7821T>C (p.Ala2607=) c.896-29995T>C c.2652T>C (p.Ala884=) c.7695T>C (p.Ala2565=) n.1624T>C c.7824T>C (p.Ala2608=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489780T>G | CA426765843 | ALMS1 | c.7440T>G (p.Ala2480=) c.832T>G c.4892T>G c.1887T>G (p.Ala629=) c.7821T>G (p.Ala2607=) c.896-29995T>G c.2652T>G (p.Ala884=) c.7695T>G (p.Ala2565=) n.1624T>G c.7824T>G (p.Ala2608=) | ClinVar |
2 | g.73489780T= | CA1260981157 | ALMS1 | c.7440T= (p.Ala2480=) c.832T= c.4892T= c.1887T= (p.Ala629=) c.7821T= (p.Ala2607=) c.896-29995T= c.2652T= (p.Ala884=) c.7695T= (p.Ala2565=) n.1624T= c.7824T= (p.Ala2608=) | |
2 | g.73489781G>A | CA347264139 | ALMS1 | c.7441G>A (p.Gly2481Arg) c.833G>A c.4893G>A c.1888G>A (p.Gly630Arg) c.7822G>A (p.Gly2608Arg) c.896-29994G>A c.2653G>A (p.Gly885Arg) c.7696G>A (p.Gly2566Arg) n.1625G>A c.7825G>A (p.Gly2609Arg) | |
2 | g.73489781G>C | CA347264140 | ALMS1 | c.7441G>C (p.Gly2481Arg) c.833G>C c.4893G>C c.1888G>C (p.Gly630Arg) c.7822G>C (p.Gly2608Arg) c.896-29994G>C c.2653G>C (p.Gly885Arg) c.7696G>C (p.Gly2566Arg) n.1625G>C c.7825G>C (p.Gly2609Arg) | |
2 | g.73489781G>T | CA347264142 | ALMS1 | c.7441G>T (p.Gly2481Ter) c.833G>T c.4893G>T c.1888G>T (p.Gly630Ter) c.7822G>T (p.Gly2608Ter) c.896-29994G>T c.2653G>T (p.Gly885Ter) c.7696G>T (p.Gly2566Ter) n.1625G>T c.7825G>T (p.Gly2609Ter) | |
2 | g.73489782G>A | CA347264144 | ALMS1 | c.7442G>A (p.Gly2481Glu) c.834G>A c.4894G>A c.1889G>A (p.Gly630Glu) c.7823G>A (p.Gly2608Glu) c.896-29993G>A c.2654G>A (p.Gly885Glu) c.7697G>A (p.Gly2566Glu) n.1626G>A c.7826G>A (p.Gly2609Glu) | |
2 | g.73489782G>C | CA347264146 | ALMS1 | c.7442G>C (p.Gly2481Ala) c.834G>C c.4894G>C c.1889G>C (p.Gly630Ala) c.7823G>C (p.Gly2608Ala) c.896-29993G>C c.2654G>C (p.Gly885Ala) c.7697G>C (p.Gly2566Ala) n.1626G>C c.7826G>C (p.Gly2609Ala) | |
2 | g.73489782G>T | CA347264145 | ALMS1 | c.7442G>T (p.Gly2481Val) c.834G>T c.4894G>T c.1889G>T (p.Gly630Val) c.7823G>T (p.Gly2608Val) c.896-29993G>T c.2654G>T (p.Gly885Val) c.7697G>T (p.Gly2566Val) n.1626G>T c.7826G>T (p.Gly2609Val) | |
2 | g.73489783A>C | CA426765852 | ALMS1 | c.7443A>C (p.Gly2481=) c.835A>C c.4895A>C c.1890A>C (p.Gly630=) c.7824A>C (p.Gly2608=) c.896-29992A>C c.2655A>C (p.Gly885=) c.7698A>C (p.Gly2566=) n.1627A>C c.7827A>C (p.Gly2609=) | |
2 | g.73489783A>G | CA426765861 | ALMS1 | c.7443A>G (p.Gly2481=) c.835A>G c.4895A>G c.1890A>G (p.Gly630=) c.7824A>G (p.Gly2608=) c.896-29992A>G c.2655A>G (p.Gly885=) c.7698A>G (p.Gly2566=) n.1627A>G c.7827A>G (p.Gly2609=) | |
2 | g.73489783A>T | CA426765858 | ALMS1 | c.7443A>T (p.Gly2481=) c.835A>T c.4895A>T c.1890A>T (p.Gly630=) c.7824A>T (p.Gly2608=) c.896-29992A>T c.2655A>T (p.Gly885=) c.7698A>T (p.Gly2566=) n.1627A>T c.7827A>T (p.Gly2609=) | |
2 | g.73489783_73489784del | CA913090800 | ALMS1 | c.7443_7444del (p.Pro2482LeufsTer?) c.835_836del c.4895_4896del c.1890_1891del (p.Pro631LeufsTer?) c.7824_7825del (p.Pro2609LeufsTer?) c.896-29992_896-29991del c.2655_2656del (p.Pro886LeufsTer?) c.7698_7699del (p.Pro2567LeufsTer?) n.1627_1628del c.7827_7828del (p.Pro2610LeufsTer?) | |
2 | g.73489783_73489784delinsAC | CA1260981158 | ALMS1 | c.7443_7444delinsAC (p.Gly2481=) c.835_836delinsAC c.4895_4896delinsAC c.1890_1891delinsAC (p.Gly630=) c.7824_7825delinsAC (p.Gly2608=) c.896-29992_896-29991delinsAC c.2655_2656delinsAC (p.Gly885=) c.7698_7699delinsAC (p.Gly2566=) n.1627_1628delinsAC c.7827_7828delinsAC (p.Gly2609=) | |
2 | g.73489784C>A | CA347264148 | ALMS1 | c.7444C>A (p.Pro2482Thr) c.836C>A c.4896C>A c.1891C>A (p.Pro631Thr) c.7825C>A (p.Pro2609Thr) c.896-29991C>A c.2656C>A (p.Pro886Thr) c.7699C>A (p.Pro2567Thr) n.1628C>A c.7828C>A (p.Pro2610Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.73489784C>G | CA347264149 | ALMS1 | c.7444C>G (p.Pro2482Ala) c.836C>G c.4896C>G c.1891C>G (p.Pro631Ala) c.7825C>G (p.Pro2609Ala) c.896-29991C>G c.2656C>G (p.Pro886Ala) c.7699C>G (p.Pro2567Ala) n.1628C>G c.7828C>G (p.Pro2610Ala) | gnomAD v4 |
2 | g.73489784C>T | CA347264151 | ALMS1 | c.7444C>T (p.Pro2482Ser) c.836C>T c.4896C>T c.1891C>T (p.Pro631Ser) c.7825C>T (p.Pro2609Ser) c.896-29991C>T c.2656C>T (p.Pro886Ser) c.7699C>T (p.Pro2567Ser) n.1628C>T c.7828C>T (p.Pro2610Ser) | |
2 | g.73489786del | CA658821971 | ALMS1 | c.7446del (p.Ser2483GlnfsTer3) c.838del c.4898del c.1893del (p.Ser632GlnfsTer3) c.7827del (p.Ser2610GlnfsTer3) c.896-29989del c.2658del (p.Ser887GlnfsTer3) c.7701del (p.Ser2568GlnfsTer3) n.1630del c.7830del (p.Ser2611GlnfsTer3) | ClinVar dbSNP |
2 | g.73489785C>A | CA347264153 | ALMS1 | c.7445C>A (p.Pro2482His) c.837C>A c.4897C>A c.1892C>A (p.Pro631His) c.7826C>A (p.Pro2609His) c.896-29990C>A c.2657C>A (p.Pro886His) c.7700C>A (p.Pro2567His) n.1629C>A c.7829C>A (p.Pro2610His) | |
2 | g.73489785C>G | CA347264154 | ALMS1 | c.7445C>G (p.Pro2482Arg) c.837C>G c.4897C>G c.1892C>G (p.Pro631Arg) c.7826C>G (p.Pro2609Arg) c.896-29990C>G c.2657C>G (p.Pro886Arg) c.7700C>G (p.Pro2567Arg) n.1629C>G c.7829C>G (p.Pro2610Arg) | |
2 | g.73489785C>T | CA347264156 | ALMS1 | c.7445C>T (p.Pro2482Leu) c.837C>T c.4897C>T c.1892C>T (p.Pro631Leu) c.7826C>T (p.Pro2609Leu) c.896-29990C>T c.2657C>T (p.Pro886Leu) c.7700C>T (p.Pro2567Leu) n.1629C>T c.7829C>T (p.Pro2610Leu) | |
2 | g.73489786C>A | CA426765867 | ALMS1 | c.7446C>A (p.Pro2482=) c.838C>A c.4898C>A c.1893C>A (p.Pro631=) c.7827C>A (p.Pro2609=) c.896-29989C>A c.2658C>A (p.Pro886=) c.7701C>A (p.Pro2567=) n.1630C>A c.7830C>A (p.Pro2610=) | |
2 | g.73489786C>G | CA426765868 | ALMS1 | c.7446C>G (p.Pro2482=) c.838C>G c.4898C>G c.1893C>G (p.Pro631=) c.7827C>G (p.Pro2609=) c.896-29989C>G c.2658C>G (p.Pro886=) c.7701C>G (p.Pro2567=) n.1630C>G c.7830C>G (p.Pro2610=) | |
2 | g.73489786C>T | CA426765869 | ALMS1 | c.7446C>T (p.Pro2482=) c.838C>T c.4898C>T c.1893C>T (p.Pro631=) c.7827C>T (p.Pro2609=) c.896-29989C>T c.2658C>T (p.Pro886=) c.7701C>T (p.Pro2567=) n.1630C>T c.7830C>T (p.Pro2610=) | |
2 | g.73489787T>A | CA347264158 | ALMS1 | c.7447T>A (p.Ser2483Thr) c.839T>A c.4899T>A c.1894T>A (p.Ser632Thr) c.7828T>A (p.Ser2610Thr) c.896-29988T>A c.2659T>A (p.Ser887Thr) c.7702T>A (p.Ser2568Thr) n.1631T>A c.7831T>A (p.Ser2611Thr) | |
2 | g.73489787T>C | CA347264159 | ALMS1 | c.7447T>C (p.Ser2483Pro) c.839T>C c.4899T>C c.1894T>C (p.Ser632Pro) c.7828T>C (p.Ser2610Pro) c.896-29988T>C c.2659T>C (p.Ser887Pro) c.7702T>C (p.Ser2568Pro) n.1631T>C c.7831T>C (p.Ser2611Pro) | dbSNP |
2 | g.73489787T>G | CA347264161 | ALMS1 | c.7447T>G (p.Ser2483Ala) c.839T>G c.4899T>G c.1894T>G (p.Ser632Ala) c.7828T>G (p.Ser2610Ala) c.896-29988T>G c.2659T>G (p.Ser887Ala) c.7702T>G (p.Ser2568Ala) n.1631T>G c.7831T>G (p.Ser2611Ala) | |
2 | g.73489787T= | CA1260981159 | ALMS1 | c.7447T= (p.Ser2483=) c.839T= c.4899T= c.1894T= (p.Ser632=) c.7828T= (p.Ser2610=) c.896-29988T= c.2659T= (p.Ser887=) c.7702T= (p.Ser2568=) n.1631T= c.7831T= (p.Ser2611=) | |
2 | g.73489788C>A | CA347264164 | ALMS1 | c.7448C>A (p.Ser2483Ter) c.840C>A c.4900C>A c.1895C>A (p.Ser632Ter) c.7829C>A (p.Ser2610Ter) c.896-29987C>A c.2660C>A (p.Ser887Ter) c.7703C>A (p.Ser2568Ter) n.1632C>A c.7832C>A (p.Ser2611Ter) | |
2 | g.73489788C>G | CA347264166 | ALMS1 | c.7448C>G (p.Ser2483Ter) c.840C>G c.4900C>G c.1895C>G (p.Ser632Ter) c.7829C>G (p.Ser2610Ter) c.896-29987C>G c.2660C>G (p.Ser887Ter) c.7703C>G (p.Ser2568Ter) n.1632C>G c.7832C>G (p.Ser2611Ter) | |
2 | g.73489788C>T | CA347264162 | ALMS1 | c.7448C>T (p.Ser2483Leu) c.840C>T c.4900C>T c.1895C>T (p.Ser632Leu) c.7829C>T (p.Ser2610Leu) c.896-29987C>T c.2660C>T (p.Ser887Leu) c.7703C>T (p.Ser2568Leu) n.1632C>T c.7832C>T (p.Ser2611Leu) | gnomAD v4 |
2 | g.73489789A>C | CA426765878 | ALMS1 | c.7449A>C (p.Ser2483=) c.841A>C c.4901A>C c.1896A>C (p.Ser632=) c.7830A>C (p.Ser2610=) c.896-29986A>C c.2661A>C (p.Ser887=) c.7704A>C (p.Ser2568=) n.1633A>C c.7833A>C (p.Ser2611=) | |
2 | g.73489789A>G | CA426765879 | ALMS1 | c.7449A>G (p.Ser2483=) c.841A>G c.4901A>G c.1896A>G (p.Ser632=) c.7830A>G (p.Ser2610=) c.896-29986A>G c.2661A>G (p.Ser887=) c.7704A>G (p.Ser2568=) n.1633A>G c.7833A>G (p.Ser2611=) | ClinVar |
2 | g.73489789A>T | CA426765880 | ALMS1 | c.7449A>T (p.Ser2483=) c.841A>T c.4901A>T c.1896A>T (p.Ser632=) c.7830A>T (p.Ser2610=) c.896-29986A>T c.2661A>T (p.Ser887=) c.7704A>T (p.Ser2568=) n.1633A>T c.7833A>T (p.Ser2611=) | |
2 | g.73489790G>A | CA347264167 | ALMS1 | c.7450G>A (p.Glu2484Lys) c.842G>A c.4902G>A c.1897G>A (p.Glu633Lys) c.7831G>A (p.Glu2611Lys) c.896-29985G>A c.2662G>A (p.Glu888Lys) c.7705G>A (p.Glu2569Lys) n.1634G>A c.7834G>A (p.Glu2612Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489790G>C | CA347264169 | ALMS1 | c.7450G>C (p.Glu2484Gln) c.842G>C c.4902G>C c.1897G>C (p.Glu633Gln) c.7831G>C (p.Glu2611Gln) c.896-29985G>C c.2662G>C (p.Glu888Gln) c.7705G>C (p.Glu2569Gln) n.1634G>C c.7834G>C (p.Glu2612Gln) | |
2 | g.73489790G= | CA1260981160 | ALMS1 | c.7450G= (p.Glu2484=) c.842G= c.4902G= c.1897G= (p.Glu633=) c.7831G= (p.Glu2611=) c.896-29985G= c.2662G= (p.Glu888=) c.7705G= (p.Glu2569=) n.1634G= c.7834G= (p.Glu2612=) | |
2 | g.73489790G>T | CA347264170 | ALMS1 | c.7450G>T (p.Glu2484Ter) c.842G>T c.4902G>T c.1897G>T (p.Glu633Ter) c.7831G>T (p.Glu2611Ter) c.896-29985G>T c.2662G>T (p.Glu888Ter) c.7705G>T (p.Glu2569Ter) n.1634G>T c.7834G>T (p.Glu2612Ter) | |
2 | g.73489791A>C | CA347264172 | ALMS1 | c.7451A>C (p.Glu2484Ala) c.843A>C c.4903A>C c.1898A>C (p.Glu633Ala) c.7832A>C (p.Glu2611Ala) c.896-29984A>C c.2663A>C (p.Glu888Ala) c.7706A>C (p.Glu2569Ala) n.1635A>C c.7835A>C (p.Glu2612Ala) | |
2 | g.73489791A>G | CA347264174 | ALMS1 | c.7451A>G (p.Glu2484Gly) c.843A>G c.4903A>G c.1898A>G (p.Glu633Gly) c.7832A>G (p.Glu2611Gly) c.896-29984A>G c.2663A>G (p.Glu888Gly) c.7706A>G (p.Glu2569Gly) n.1635A>G c.7835A>G (p.Glu2612Gly) | |
2 | g.73489791A>T | CA347264175 | ALMS1 | c.7451A>T (p.Glu2484Val) c.843A>T c.4903A>T c.1898A>T (p.Glu633Val) c.7832A>T (p.Glu2611Val) c.896-29984A>T c.2663A>T (p.Glu888Val) c.7706A>T (p.Glu2569Val) n.1635A>T c.7835A>T (p.Glu2612Val) | |
2 | g.73489792A>C | CA347264178 | ALMS1 | c.7452A>C (p.Glu2484Asp) c.844A>C c.4904A>C c.1899A>C (p.Glu633Asp) c.7833A>C (p.Glu2611Asp) c.896-29983A>C c.2664A>C (p.Glu888Asp) c.7707A>C (p.Glu2569Asp) n.1636A>C c.7836A>C (p.Glu2612Asp) | |
2 | g.73489792A>G | CA426765890 | ALMS1 | c.7452A>G (p.Glu2484=) c.844A>G c.4904A>G c.1899A>G (p.Glu633=) c.7833A>G (p.Glu2611=) c.896-29983A>G c.2664A>G (p.Glu888=) c.7707A>G (p.Glu2569=) n.1636A>G c.7836A>G (p.Glu2612=) | |
2 | g.73489792A>T | CA347264176 | ALMS1 | c.7452A>T (p.Glu2484Asp) c.844A>T c.4904A>T c.1899A>T (p.Glu633Asp) c.7833A>T (p.Glu2611Asp) c.896-29983A>T c.2664A>T (p.Glu888Asp) c.7707A>T (p.Glu2569Asp) n.1636A>T c.7836A>T (p.Glu2612Asp) | |
2 | g.73489793A>C | CA347264180 | ALMS1 | c.7453A>C (p.Met2485Leu) c.845A>C c.4905A>C c.1900A>C (p.Met634Leu) c.7834A>C (p.Met2612Leu) c.896-29982A>C c.2665A>C (p.Met889Leu) c.7708A>C (p.Met2570Leu) n.1637A>C c.7837A>C (p.Met2613Leu) | |
2 | g.73489793A>G | CA347264181 | ALMS1 | c.7453A>G (p.Met2485Val) c.845A>G c.4905A>G c.1900A>G (p.Met634Val) c.7834A>G (p.Met2612Val) c.896-29982A>G c.2665A>G (p.Met889Val) c.7708A>G (p.Met2570Val) n.1637A>G c.7837A>G (p.Met2613Val) | |
2 | g.73489793A>T | CA347264183 | ALMS1 | c.7453A>T (p.Met2485Leu) c.845A>T c.4905A>T c.1900A>T (p.Met634Leu) c.7834A>T (p.Met2612Leu) c.896-29982A>T c.2665A>T (p.Met889Leu) c.7708A>T (p.Met2570Leu) n.1637A>T c.7837A>T (p.Met2613Leu) | |
2 | g.73489794T>A | CA347264185 | ALMS1 | c.7454T>A (p.Met2485Lys) c.846T>A c.4906T>A c.1901T>A (p.Met634Lys) c.7835T>A (p.Met2612Lys) c.896-29981T>A c.2666T>A (p.Met889Lys) c.7709T>A (p.Met2570Lys) n.1638T>A c.7838T>A (p.Met2613Lys) | |
2 | g.73489794T>C | CA347264186 | ALMS1 | c.7454T>C (p.Met2485Thr) c.846T>C c.4906T>C c.1901T>C (p.Met634Thr) c.7835T>C (p.Met2612Thr) c.896-29981T>C c.2666T>C (p.Met889Thr) c.7709T>C (p.Met2570Thr) n.1638T>C c.7838T>C (p.Met2613Thr) | |
2 | g.73489794T>G | CA347264188 | ALMS1 | c.7454T>G (p.Met2485Arg) c.846T>G c.4906T>G c.1901T>G (p.Met634Arg) c.7835T>G (p.Met2612Arg) c.896-29981T>G c.2666T>G (p.Met889Arg) c.7709T>G (p.Met2570Arg) n.1638T>G c.7838T>G (p.Met2613Arg) | |
2 | g.73489795G>A | CA347265884 | ALMS1 | c.7455G>A (p.Met2485Ile) c.847G>A c.4907G>A c.1902G>A (p.Met634Ile) c.7836G>A (p.Met2612Ile) c.896-29980G>A c.2667G>A (p.Met889Ile) c.7710G>A (p.Met2570Ile) n.1639G>A c.7839G>A (p.Met2613Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489795G>C | CA347265889 | ALMS1 | c.7455G>C (p.Met2485Ile) c.847G>C c.4907G>C c.1902G>C (p.Met634Ile) c.7836G>C (p.Met2612Ile) c.896-29980G>C c.2667G>C (p.Met889Ile) c.7710G>C (p.Met2570Ile) n.1639G>C c.7839G>C (p.Met2613Ile) | |
2 | g.73489795G= | CA1260981161 | ALMS1 | c.7455G= (p.Met2485=) c.847G= c.4907G= c.1902G= (p.Met634=) c.7836G= (p.Met2612=) c.896-29980G= c.2667G= (p.Met889=) c.7710G= (p.Met2570=) n.1639G= c.7839G= (p.Met2613=) | |
2 | g.73489795G>T | CA347265887 | ALMS1 | c.7455G>T (p.Met2485Ile) c.847G>T c.4907G>T c.1902G>T (p.Met634Ile) c.7836G>T (p.Met2612Ile) c.896-29980G>T c.2667G>T (p.Met889Ile) c.7710G>T (p.Met2570Ile) n.1639G>T c.7839G>T (p.Met2613Ile) | gnomAD v4 |
2 | g.73489796A>C | CA347265890 | ALMS1 | c.7456A>C (p.Thr2486Pro) c.848A>C c.4908A>C c.1903A>C (p.Thr635Pro) c.7837A>C (p.Thr2613Pro) c.896-29979A>C c.2668A>C (p.Thr890Pro) c.7711A>C (p.Thr2571Pro) n.1640A>C c.7840A>C (p.Thr2614Pro) | |
2 | g.73489796A>G | CA347265895 | ALMS1 | c.7456A>G (p.Thr2486Ala) c.848A>G c.4908A>G c.1903A>G (p.Thr635Ala) c.7837A>G (p.Thr2613Ala) c.896-29979A>G c.2668A>G (p.Thr890Ala) c.7711A>G (p.Thr2571Ala) n.1640A>G c.7840A>G (p.Thr2614Ala) | |
2 | g.73489796A>T | CA347265899 | ALMS1 | c.7456A>T (p.Thr2486Ser) c.848A>T c.4908A>T c.1903A>T (p.Thr635Ser) c.7837A>T (p.Thr2613Ser) c.896-29979A>T c.2668A>T (p.Thr890Ser) c.7711A>T (p.Thr2571Ser) n.1640A>T c.7840A>T (p.Thr2614Ser) | gnomAD v4 |
2 | g.73489797C>A | CA347265904 | ALMS1 | c.7457C>A (p.Thr2486Asn) c.849C>A c.4909C>A c.1904C>A (p.Thr635Asn) c.7838C>A (p.Thr2613Asn) c.896-29978C>A c.2669C>A (p.Thr890Asn) c.7712C>A (p.Thr2571Asn) n.1641C>A c.7841C>A (p.Thr2614Asn) | |
2 | g.73489797C>G | CA347265909 | ALMS1 | c.7457C>G (p.Thr2486Ser) c.849C>G c.4909C>G c.1904C>G (p.Thr635Ser) c.7838C>G (p.Thr2613Ser) c.896-29978C>G c.2669C>G (p.Thr890Ser) c.7712C>G (p.Thr2571Ser) n.1641C>G c.7841C>G (p.Thr2614Ser) | |
2 | g.73489797C>T | CA347265911 | ALMS1 | c.7457C>T (p.Thr2486Ile) c.849C>T c.4909C>T c.1904C>T (p.Thr635Ile) c.7838C>T (p.Thr2613Ile) c.896-29978C>T c.2669C>T (p.Thr890Ile) c.7712C>T (p.Thr2571Ile) n.1641C>T c.7841C>T (p.Thr2614Ile) | gnomAD v4 |
2 | g.73489798C>A | CA427000635 | ALMS1 | c.7458C>A (p.Thr2486=) c.850C>A c.4910C>A c.1905C>A (p.Thr635=) c.7839C>A (p.Thr2613=) c.896-29977C>A c.2670C>A (p.Thr890=) c.7713C>A (p.Thr2571=) n.1642C>A c.7842C>A (p.Thr2614=) | ClinVar dbSNP |
2 | g.73489798C= | CA1260981162 | ALMS1 | c.7458C= (p.Thr2486=) c.850C= c.4910C= c.1905C= (p.Thr635=) c.7839C= (p.Thr2613=) c.896-29977C= c.2670C= (p.Thr890=) c.7713C= (p.Thr2571=) n.1642C= c.7842C= (p.Thr2614=) | |
2 | g.73489798C>G | CA427000636 | ALMS1 | c.7458C>G (p.Thr2486=) c.850C>G c.4910C>G c.1905C>G (p.Thr635=) c.7839C>G (p.Thr2613=) c.896-29977C>G c.2670C>G (p.Thr890=) c.7713C>G (p.Thr2571=) n.1642C>G c.7842C>G (p.Thr2614=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489798C>T | CA1714356 | ALMS1 | c.7458C>T (p.Thr2486=) c.850C>T c.4910C>T c.1905C>T (p.Thr635=) c.7839C>T (p.Thr2613=) c.896-29977C>T c.2670C>T (p.Thr890=) c.7713C>T (p.Thr2571=) n.1642C>T c.7842C>T (p.Thr2614=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489799_73489805del | CA2586969426 | ALMS1 | c.7459_7465del (p.Arg2487GlyfsTer18) c.851_857del c.4911_4917del c.1906_1912del (p.Arg636GlyfsTer18) c.7840_7846del (p.Arg2614GlyfsTer18) c.896-29976_896-29970del c.2671_2677del (p.Arg891GlyfsTer18) c.7714_7720del (p.Arg2572GlyfsTer18) n.1643_1649del c.7843_7849del (p.Arg2615GlyfsTer18) | |
2 | g.73489799A= | CA1260981163 | ALMS1 | c.7459A= (p.Arg2487=) c.851A= c.4911A= c.1906A= (p.Arg636=) c.7840A= (p.Arg2614=) c.896-29976A= c.2671A= (p.Arg891=) c.7714A= (p.Arg2572=) n.1643A= c.7843A= (p.Arg2615=) | |
2 | g.73489799A>C | CA427000637 | ALMS1 | c.7459A>C (p.Arg2487=) c.851A>C c.4911A>C c.1906A>C (p.Arg636=) c.7840A>C (p.Arg2614=) c.896-29976A>C c.2671A>C (p.Arg891=) c.7714A>C (p.Arg2572=) n.1643A>C c.7843A>C (p.Arg2615=) | |
2 | g.73489799A>G | CA1714357 | ALMS1 | c.7459A>G (p.Arg2487Gly) c.851A>G c.4911A>G c.1906A>G (p.Arg636Gly) c.7840A>G (p.Arg2614Gly) c.896-29976A>G c.2671A>G (p.Arg891Gly) c.7714A>G (p.Arg2572Gly) n.1643A>G c.7843A>G (p.Arg2615Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489799A>T | CA347265920 | ALMS1 | c.7459A>T (p.Arg2487Ter) c.851A>T c.4911A>T c.1906A>T (p.Arg636Ter) c.7840A>T (p.Arg2614Ter) c.896-29976A>T c.2671A>T (p.Arg891Ter) c.7714A>T (p.Arg2572Ter) n.1643A>T c.7843A>T (p.Arg2615Ter) | |
2 | g.73489800G>A | CA347265923 | ALMS1 | c.7460G>A (p.Arg2487Lys) c.852G>A c.4912G>A c.1907G>A (p.Arg636Lys) c.7841G>A (p.Arg2614Lys) c.896-29975G>A c.2672G>A (p.Arg891Lys) c.7715G>A (p.Arg2572Lys) n.1644G>A c.7844G>A (p.Arg2615Lys) | ClinVar |
2 | g.73489800G>C | CA50377544 | ALMS1 | c.7460G>C (p.Arg2487Thr) c.852G>C c.4912G>C c.1907G>C (p.Arg636Thr) c.7841G>C (p.Arg2614Thr) c.896-29975G>C c.2672G>C (p.Arg891Thr) c.7715G>C (p.Arg2572Thr) n.1644G>C c.7844G>C (p.Arg2615Thr) | dbSNP |
2 | g.73489800G= | CA1260981164 | ALMS1 | c.7460G= (p.Arg2487=) c.852G= c.4912G= c.1907G= (p.Arg636=) c.7841G= (p.Arg2614=) c.896-29975G= c.2672G= (p.Arg891=) c.7715G= (p.Arg2572=) n.1644G= c.7844G= (p.Arg2615=) | |
2 | g.73489800G>T | CA347265926 | ALMS1 | c.7460G>T (p.Arg2487Ile) c.852G>T c.4912G>T c.1907G>T (p.Arg636Ile) c.7841G>T (p.Arg2614Ile) c.896-29975G>T c.2672G>T (p.Arg891Ile) c.7715G>T (p.Arg2572Ile) n.1644G>T c.7844G>T (p.Arg2615Ile) | |
2 | g.73489801A= | CA1260981165 | ALMS1 | c.7461A= (p.Arg2487=) c.853A= c.4913A= c.1908A= (p.Arg636=) c.7842A= (p.Arg2614=) c.896-29974A= c.2673A= (p.Arg891=) c.7716A= (p.Arg2572=) n.1645A= c.7845A= (p.Arg2615=) | |
2 | g.73489801A>C | CA347265931 | ALMS1 | c.7461A>C (p.Arg2487Ser) c.853A>C c.4913A>C c.1908A>C (p.Arg636Ser) c.7842A>C (p.Arg2614Ser) c.896-29974A>C c.2673A>C (p.Arg891Ser) c.7716A>C (p.Arg2572Ser) n.1645A>C c.7845A>C (p.Arg2615Ser) | |
2 | g.73489801A>G | CA427000638 | ALMS1 | c.7461A>G (p.Arg2487=) c.853A>G c.4913A>G c.1908A>G (p.Arg636=) c.7842A>G (p.Arg2614=) c.896-29974A>G c.2673A>G (p.Arg891=) c.7716A>G (p.Arg2572=) n.1645A>G c.7845A>G (p.Arg2615=) | dbSNP gnomAD v4 |
2 | g.73489801A>T | CA347265928 | ALMS1 | c.7461A>T (p.Arg2487Ser) c.853A>T c.4913A>T c.1908A>T (p.Arg636Ser) c.7842A>T (p.Arg2614Ser) c.896-29974A>T c.2673A>T (p.Arg891Ser) c.7716A>T (p.Arg2572Ser) n.1645A>T c.7845A>T (p.Arg2615Ser) | |
2 | g.73489802G>A | CA347265934 | ALMS1 | c.7462G>A (p.Gly2488Arg) c.854G>A c.4914G>A c.1909G>A (p.Gly637Arg) c.7843G>A (p.Gly2615Arg) c.896-29973G>A c.2674G>A (p.Gly892Arg) c.7717G>A (p.Gly2573Arg) n.1646G>A c.7846G>A (p.Gly2616Arg) | ClinVar |
2 | g.73489802G>C | CA347265938 | ALMS1 | c.7462G>C (p.Gly2488Arg) c.854G>C c.4914G>C c.1909G>C (p.Gly637Arg) c.7843G>C (p.Gly2615Arg) c.896-29973G>C c.2674G>C (p.Gly892Arg) c.7717G>C (p.Gly2573Arg) n.1646G>C c.7846G>C (p.Gly2616Arg) | |
2 | g.73489802G>T | CA347265936 | ALMS1 | c.7462G>T (p.Gly2488Ter) c.854G>T c.4914G>T c.1909G>T (p.Gly637Ter) c.7843G>T (p.Gly2615Ter) c.896-29973G>T c.2674G>T (p.Gly892Ter) c.7717G>T (p.Gly2573Ter) n.1646G>T c.7846G>T (p.Gly2616Ter) | |
2 | g.73489803G>A | CA347265941 | ALMS1 | c.7463G>A (p.Gly2488Glu) c.855G>A c.4915G>A c.1910G>A (p.Gly637Glu) c.7844G>A (p.Gly2615Glu) c.896-29972G>A c.2675G>A (p.Gly892Glu) c.7718G>A (p.Gly2573Glu) n.1647G>A c.7847G>A (p.Gly2616Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489803G>C | CA347265946 | ALMS1 | c.7463G>C (p.Gly2488Ala) c.855G>C c.4915G>C c.1910G>C (p.Gly637Ala) c.7844G>C (p.Gly2615Ala) c.896-29972G>C c.2675G>C (p.Gly892Ala) c.7718G>C (p.Gly2573Ala) n.1647G>C c.7847G>C (p.Gly2616Ala) | |
2 | g.73489803G= | CA1260981166 | ALMS1 | c.7463G= (p.Gly2488=) c.855G= c.4915G= c.1910G= (p.Gly637=) c.7844G= (p.Gly2615=) c.896-29972G= c.2675G= (p.Gly892=) c.7718G= (p.Gly2573=) n.1647G= c.7847G= (p.Gly2616=) | |
2 | g.73489803G>T | CA347265944 | ALMS1 | c.7463G>T (p.Gly2488Val) c.855G>T c.4915G>T c.1910G>T (p.Gly637Val) c.7844G>T (p.Gly2615Val) c.896-29972G>T c.2675G>T (p.Gly892Val) c.7718G>T (p.Gly2573Val) n.1647G>T c.7847G>T (p.Gly2616Val) | |
2 | g.73489804A>C | CA427000640 | ALMS1 | c.7464A>C (p.Gly2488=) c.856A>C c.4916A>C c.1911A>C (p.Gly637=) c.7845A>C (p.Gly2615=) c.896-29971A>C c.2676A>C (p.Gly892=) c.7719A>C (p.Gly2573=) n.1648A>C c.7848A>C (p.Gly2616=) | |
2 | g.73489804A>G | CA427000641 | ALMS1 | c.7464A>G (p.Gly2488=) c.856A>G c.4916A>G c.1911A>G (p.Gly637=) c.7845A>G (p.Gly2615=) c.896-29971A>G c.2676A>G (p.Gly892=) c.7719A>G (p.Gly2573=) n.1648A>G c.7848A>G (p.Gly2616=) | gnomAD v4 |
2 | g.73489804A>T | CA427000639 | ALMS1 | c.7464A>T (p.Gly2488=) c.856A>T c.4916A>T c.1911A>T (p.Gly637=) c.7845A>T (p.Gly2615=) c.896-29971A>T c.2676A>T (p.Gly892=) c.7719A>T (p.Gly2573=) n.1648A>T c.7848A>T (p.Gly2616=) | |
2 | g.73489805C>A | CA427000642 | ALMS1 | c.7465C>A (p.Arg2489=) c.857C>A c.4917C>A c.1912C>A (p.Arg638=) c.7846C>A (p.Arg2616=) c.896-29970C>A c.2677C>A (p.Arg893=) c.7720C>A (p.Arg2574=) n.1649C>A c.7849C>A (p.Arg2617=) | gnomAD v4 |
2 | g.73489805C= | CA1260981167 | ALMS1 | c.7465C= (p.Arg2489=) c.857C= c.4917C= c.1912C= (p.Arg638=) c.7846C= (p.Arg2616=) c.896-29970C= c.2677C= (p.Arg893=) c.7720C= (p.Arg2574=) n.1649C= c.7849C= (p.Arg2617=) | |
2 | g.73489805C>G | CA347265948 | ALMS1 | c.7465C>G (p.Arg2489Gly) c.857C>G c.4917C>G c.1912C>G (p.Arg638Gly) c.7846C>G (p.Arg2616Gly) c.896-29970C>G c.2677C>G (p.Arg893Gly) c.7720C>G (p.Arg2574Gly) n.1649C>G c.7849C>G (p.Arg2617Gly) | |
2 | g.73489805C>T | CA1714358 | ALMS1 | c.7465C>T (p.Arg2489Trp) c.857C>T c.4917C>T c.1912C>T (p.Arg638Trp) c.7846C>T (p.Arg2616Trp) c.896-29970C>T c.2677C>T (p.Arg893Trp) c.7720C>T (p.Arg2574Trp) n.1649C>T c.7849C>T (p.Arg2617Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489806G>A | CA347265954 | ALMS1 | c.7466G>A (p.Arg2489Gln) c.858G>A c.4918G>A c.1913G>A (p.Arg638Gln) c.7847G>A (p.Arg2616Gln) c.896-29969G>A c.2678G>A (p.Arg893Gln) c.7721G>A (p.Arg2574Gln) n.1650G>A c.7850G>A (p.Arg2617Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.73489806G>C | CA347265957 | ALMS1 | c.7466G>C (p.Arg2489Pro) c.858G>C c.4918G>C c.1913G>C (p.Arg638Pro) c.7847G>C (p.Arg2616Pro) c.896-29969G>C c.2678G>C (p.Arg893Pro) c.7721G>C (p.Arg2574Pro) n.1650G>C c.7850G>C (p.Arg2617Pro) | |
2 | g.73489806G= | CA1260981168 | ALMS1 | c.7466G= (p.Arg2489=) c.858G= c.4918G= c.1913G= (p.Arg638=) c.7847G= (p.Arg2616=) c.896-29969G= c.2678G= (p.Arg893=) c.7721G= (p.Arg2574=) n.1650G= c.7850G= (p.Arg2617=) | |
2 | g.73489806G>T | CA347265959 | ALMS1 | c.7466G>T (p.Arg2489Leu) c.858G>T c.4918G>T c.1913G>T (p.Arg638Leu) c.7847G>T (p.Arg2616Leu) c.896-29969G>T c.2678G>T (p.Arg893Leu) c.7721G>T (p.Arg2574Leu) n.1650G>T c.7850G>T (p.Arg2617Leu) | |
2 | g.73489807G>A | CA427000643 | ALMS1 | c.7467G>A (p.Arg2489=) c.859G>A c.4919G>A c.1914G>A (p.Arg638=) c.7848G>A (p.Arg2616=) c.896-29968G>A c.2679G>A (p.Arg893=) c.7722G>A (p.Arg2574=) n.1651G>A c.7851G>A (p.Arg2617=) | |
2 | g.73489807G>C | CA427000644 | ALMS1 | c.7467G>C (p.Arg2489=) c.859G>C c.4919G>C c.1914G>C (p.Arg638=) c.7848G>C (p.Arg2616=) c.896-29968G>C c.2679G>C (p.Arg893=) c.7722G>C (p.Arg2574=) n.1651G>C c.7851G>C (p.Arg2617=) | |
2 | g.73489807G>T | CA427000645 | ALMS1 | c.7467G>T (p.Arg2489=) c.859G>T c.4919G>T c.1914G>T (p.Arg638=) c.7848G>T (p.Arg2616=) c.896-29968G>T c.2679G>T (p.Arg893=) c.7722G>T (p.Arg2574=) n.1651G>T c.7851G>T (p.Arg2617=) | gnomAD v4 |
2 | g.73489808C>A | CA347265962 | ALMS1 | c.7468C>A (p.Gln2490Lys) c.860C>A c.4920C>A c.1915C>A (p.Gln639Lys) c.7849C>A (p.Gln2617Lys) c.896-29967C>A c.2680C>A (p.Gln894Lys) c.7723C>A (p.Gln2575Lys) n.1652C>A c.7852C>A (p.Gln2618Lys) | |
2 | g.73489808C>G | CA347265965 | ALMS1 | c.7468C>G (p.Gln2490Glu) c.860C>G c.4920C>G c.1915C>G (p.Gln639Glu) c.7849C>G (p.Gln2617Glu) c.896-29967C>G c.2680C>G (p.Gln894Glu) c.7723C>G (p.Gln2575Glu) n.1652C>G c.7852C>G (p.Gln2618Glu) | |
2 | g.73489808C>T | CA347265967 | ALMS1 | c.7468C>T (p.Gln2490Ter) c.860C>T c.4920C>T c.1915C>T (p.Gln639Ter) c.7849C>T (p.Gln2617Ter) c.896-29967C>T c.2680C>T (p.Gln894Ter) c.7723C>T (p.Gln2575Ter) n.1652C>T c.7852C>T (p.Gln2618Ter) | |
2 | g.73489809A= | CA1260981169 | ALMS1 | c.7469A= (p.Gln2490=) c.861A= c.4921A= c.1916A= (p.Gln639=) c.7850A= (p.Gln2617=) c.896-29966A= c.2681A= (p.Gln894=) c.7724A= (p.Gln2575=) n.1653A= c.7853A= (p.Gln2618=) | |
2 | g.73489809A>C | CA347265969 | ALMS1 | c.7469A>C (p.Gln2490Pro) c.861A>C c.4921A>C c.1916A>C (p.Gln639Pro) c.7850A>C (p.Gln2617Pro) c.896-29966A>C c.2681A>C (p.Gln894Pro) c.7724A>C (p.Gln2575Pro) n.1653A>C c.7853A>C (p.Gln2618Pro) | |
2 | g.73489809A>G | CA1714359 | ALMS1 | c.7469A>G (p.Gln2490Arg) c.861A>G c.4921A>G c.1916A>G (p.Gln639Arg) c.7850A>G (p.Gln2617Arg) c.896-29966A>G c.2681A>G (p.Gln894Arg) c.7724A>G (p.Gln2575Arg) n.1653A>G c.7853A>G (p.Gln2618Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489809A>T | CA347265974 | ALMS1 | c.7469A>T (p.Gln2490Leu) c.861A>T c.4921A>T c.1916A>T (p.Gln639Leu) c.7850A>T (p.Gln2617Leu) c.896-29966A>T c.2681A>T (p.Gln894Leu) c.7724A>T (p.Gln2575Leu) n.1653A>T c.7853A>T (p.Gln2618Leu) | |
2 | g.73489810G>A | CA427000646 | ALMS1 | c.7470G>A (p.Gln2490=) c.862G>A c.4922G>A c.1917G>A (p.Gln639=) c.7851G>A (p.Gln2617=) c.896-29965G>A c.2682G>A (p.Gln894=) c.7725G>A (p.Gln2575=) n.1654G>A c.7854G>A (p.Gln2618=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489810G>C | CA347265978 | ALMS1 | c.7470G>C (p.Gln2490His) c.862G>C c.4922G>C c.1917G>C (p.Gln639His) c.7851G>C (p.Gln2617His) c.896-29965G>C c.2682G>C (p.Gln894His) c.7725G>C (p.Gln2575His) n.1654G>C c.7854G>C (p.Gln2618His) | gnomAD v4 |
2 | g.73489810G= | CA1260981170 | ALMS1 | c.7470G= (p.Gln2490=) c.862G= c.4922G= c.1917G= (p.Gln639=) c.7851G= (p.Gln2617=) c.896-29965G= c.2682G= (p.Gln894=) c.7725G= (p.Gln2575=) n.1654G= c.7854G= (p.Gln2618=) | |
2 | g.73489810G>T | CA347265977 | ALMS1 | c.7470G>T (p.Gln2490His) c.862G>T c.4922G>T c.1917G>T (p.Gln639His) c.7851G>T (p.Gln2617His) c.896-29965G>T c.2682G>T (p.Gln894His) c.7725G>T (p.Gln2575His) n.1654G>T c.7854G>T (p.Gln2618His) | |
2 | g.73489811A>C | CA347265982 | ALMS1 | c.7471A>C (p.Asn2491His) c.863A>C c.4923A>C c.1918A>C (p.Asn640His) c.7852A>C (p.Asn2618His) c.896-29964A>C c.2683A>C (p.Asn895His) c.7726A>C (p.Asn2576His) n.1655A>C c.7855A>C (p.Asn2619His) | |
2 | g.73489811A>G | CA347265985 | ALMS1 | c.7471A>G (p.Asn2491Asp) c.863A>G c.4923A>G c.1918A>G (p.Asn640Asp) c.7852A>G (p.Asn2618Asp) c.896-29964A>G c.2683A>G (p.Asn895Asp) c.7726A>G (p.Asn2576Asp) n.1655A>G c.7855A>G (p.Asn2619Asp) | |
2 | g.73489811A>T | CA347265987 | ALMS1 | c.7471A>T (p.Asn2491Tyr) c.863A>T c.4923A>T c.1918A>T (p.Asn640Tyr) c.7852A>T (p.Asn2618Tyr) c.896-29964A>T c.2683A>T (p.Asn895Tyr) c.7726A>T (p.Asn2576Tyr) n.1655A>T c.7855A>T (p.Asn2619Tyr) | |
2 | g.73489812A>C | CA347265989 | ALMS1 | c.7472A>C (p.Asn2491Thr) c.864A>C c.4924A>C c.1919A>C (p.Asn640Thr) c.7853A>C (p.Asn2618Thr) c.896-29963A>C c.2684A>C (p.Asn895Thr) c.7727A>C (p.Asn2576Thr) n.1656A>C c.7856A>C (p.Asn2619Thr) | |
2 | g.73489812A>G | CA347265992 | ALMS1 | c.7472A>G (p.Asn2491Ser) c.864A>G c.4924A>G c.1919A>G (p.Asn640Ser) c.7853A>G (p.Asn2618Ser) c.896-29963A>G c.2684A>G (p.Asn895Ser) c.7727A>G (p.Asn2576Ser) n.1656A>G c.7856A>G (p.Asn2619Ser) | gnomAD v4 |
2 | g.73489812A>T | CA347265995 | ALMS1 | c.7472A>T (p.Asn2491Ile) c.864A>T c.4924A>T c.1919A>T (p.Asn640Ile) c.7853A>T (p.Asn2618Ile) c.896-29963A>T c.2684A>T (p.Asn895Ile) c.7727A>T (p.Asn2576Ile) n.1656A>T c.7856A>T (p.Asn2619Ile) | gnomAD v4 |
2 | g.73489813C>A | CA347265998 | ALMS1 | c.7473C>A (p.Asn2491Lys) c.865C>A c.4925C>A c.1920C>A (p.Asn640Lys) c.7854C>A (p.Asn2618Lys) c.896-29962C>A c.2685C>A (p.Asn895Lys) c.7728C>A (p.Asn2576Lys) n.1657C>A c.7857C>A (p.Asn2619Lys) | |
2 | g.73489813C= | CA1260981171 | ALMS1 | c.7473C= (p.Asn2491=) c.865C= c.4925C= c.1920C= (p.Asn640=) c.7854C= (p.Asn2618=) c.896-29962C= c.2685C= (p.Asn895=) c.7728C= (p.Asn2576=) n.1657C= c.7857C= (p.Asn2619=) | |
2 | g.73489813C>G | CA347266001 | ALMS1 | c.7473C>G (p.Asn2491Lys) c.865C>G c.4925C>G c.1920C>G (p.Asn640Lys) c.7854C>G (p.Asn2618Lys) c.896-29962C>G c.2685C>G (p.Asn895Lys) c.7728C>G (p.Asn2576Lys) n.1657C>G c.7857C>G (p.Asn2619Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489813C>T | CA427000647 | ALMS1 | c.7473C>T (p.Asn2491=) c.865C>T c.4925C>T c.1920C>T (p.Asn640=) c.7854C>T (p.Asn2618=) c.896-29962C>T c.2685C>T (p.Asn895=) c.7728C>T (p.Asn2576=) n.1657C>T c.7857C>T (p.Asn2619=) | ClinVar |
2 | g.73489814C>A | CA347266003 | ALMS1 | c.7474C>A (p.Pro2492Thr) c.866C>A c.4926C>A c.1921C>A (p.Pro641Thr) c.7855C>A (p.Pro2619Thr) c.896-29961C>A c.2686C>A (p.Pro896Thr) c.7729C>A (p.Pro2577Thr) n.1658C>A c.7858C>A (p.Pro2620Thr) | |
2 | g.73489814C= | CA1260981173 | ALMS1 | c.7474C= (p.Pro2492=) c.866C= c.4926C= c.1921C= (p.Pro641=) c.7855C= (p.Pro2619=) c.896-29961C= c.2686C= (p.Pro896=) c.7729C= (p.Pro2577=) n.1658C= c.7858C= (p.Pro2620=) | |
2 | g.73489814C>G | CA347266004 | ALMS1 | c.7474C>G (p.Pro2492Ala) c.866C>G c.4926C>G c.1921C>G (p.Pro641Ala) c.7855C>G (p.Pro2619Ala) c.896-29961C>G c.2686C>G (p.Pro896Ala) c.7729C>G (p.Pro2577Ala) n.1658C>G c.7858C>G (p.Pro2620Ala) | |
2 | g.73489814C>T | CA347266005 | ALMS1 | c.7474C>T (p.Pro2492Ser) c.866C>T c.4926C>T c.1921C>T (p.Pro641Ser) c.7855C>T (p.Pro2619Ser) c.896-29961C>T c.2686C>T (p.Pro896Ser) c.7729C>T (p.Pro2577Ser) n.1658C>T c.7858C>T (p.Pro2620Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489814_73489817delinsCCAT | CA1260981172 | ALMS1 | c.7474_7477delinsCCAT (p.Pro2492=) c.866_869delinsCCAT c.4926_4929delinsCCAT c.1921_1924delinsCCAT (p.Pro641=) c.7855_7858delinsCCAT (p.Pro2619=) c.896-29961_896-29958delinsCCAT c.2686_2689delinsCCAT (p.Pro896=) c.7729_7732delinsCCAT (p.Pro2577=) n.1658_1661delinsCCAT c.7858_7861delinsCCAT (p.Pro2620=) | |
2 | g.73489815C>A | CA347266013 | ALMS1 | c.7475C>A (p.Pro2492Gln) c.867C>A c.4927C>A c.1922C>A (p.Pro641Gln) c.7856C>A (p.Pro2619Gln) c.896-29960C>A c.2687C>A (p.Pro896Gln) c.7730C>A (p.Pro2577Gln) n.1659C>A c.7859C>A (p.Pro2620Gln) | |
2 | g.73489815C= | CA1260981174 | ALMS1 | c.7475C= (p.Pro2492=) c.867C= c.4927C= c.1922C= (p.Pro641=) c.7856C= (p.Pro2619=) c.896-29960C= c.2687C= (p.Pro896=) c.7730C= (p.Pro2577=) n.1659C= c.7859C= (p.Pro2620=) | |
2 | g.73489815C>G | CA347266015 | ALMS1 | c.7475C>G (p.Pro2492Arg) c.867C>G c.4927C>G c.1922C>G (p.Pro641Arg) c.7856C>G (p.Pro2619Arg) c.896-29960C>G c.2687C>G (p.Pro896Arg) c.7730C>G (p.Pro2577Arg) n.1659C>G c.7859C>G (p.Pro2620Arg) | ClinVar dbSNP |
2 | g.73489815C>T | CA347266007 | ALMS1 | c.7475C>T (p.Pro2492Leu) c.867C>T c.4927C>T c.1922C>T (p.Pro641Leu) c.7856C>T (p.Pro2619Leu) c.896-29960C>T c.2687C>T (p.Pro896Leu) c.7730C>T (p.Pro2577Leu) n.1659C>T c.7859C>T (p.Pro2620Leu) | gnomAD v4 |
2 | g.73489821_73489823del | CA534125522 | ALMS1 | c.7481_7483del (p.Ser2494del) c.873_875del c.4933_4935del c.1928_1930del (p.Ser643del) c.7862_7864del (p.Ser2621del) c.896-29954_896-29952del c.2693_2695del (p.Ser898del) c.7736_7738del (p.Ser2579del) n.1665_1667del c.7865_7867del (p.Ser2622del) | dbSNP gnomAD v2 |
2 | g.73489816A= | CA1260981175 | ALMS1 | c.7476A= (p.Pro2492=) c.868A= c.4928A= c.1923A= (p.Pro641=) c.7857A= (p.Pro2619=) c.896-29959A= c.2688A= (p.Pro896=) c.7731A= (p.Pro2577=) n.1660A= c.7860A= (p.Pro2620=) | |
2 | g.73489816A>C | CA427000648 | ALMS1 | c.7476A>C (p.Pro2492=) c.868A>C c.4928A>C c.1923A>C (p.Pro641=) c.7857A>C (p.Pro2619=) c.896-29959A>C c.2688A>C (p.Pro896=) c.7731A>C (p.Pro2577=) n.1660A>C c.7860A>C (p.Pro2620=) | |
2 | g.73489816A>G | CA427000649 | ALMS1 | c.7476A>G (p.Pro2492=) c.868A>G c.4928A>G c.1923A>G (p.Pro641=) c.7857A>G (p.Pro2619=) c.896-29959A>G c.2688A>G (p.Pro896=) c.7731A>G (p.Pro2577=) n.1660A>G c.7860A>G (p.Pro2620=) | dbSNP gnomAD v4 |
2 | g.73489816A>T | CA427000650 | ALMS1 | c.7476A>T (p.Pro2492=) c.868A>T c.4928A>T c.1923A>T (p.Pro641=) c.7857A>T (p.Pro2619=) c.896-29959A>T c.2688A>T (p.Pro896=) c.7731A>T (p.Pro2577=) n.1660A>T c.7860A>T (p.Pro2620=) | |
2 | g.73489817T>A | CA347266016 | ALMS1 | c.7477T>A (p.Ser2493Thr) c.869T>A c.4929T>A c.1924T>A (p.Ser642Thr) c.7858T>A (p.Ser2620Thr) c.896-29958T>A c.2689T>A (p.Ser897Thr) c.7732T>A (p.Ser2578Thr) n.1661T>A c.7861T>A (p.Ser2621Thr) | dbSNP |
2 | g.73489817T>C | CA347266018 | ALMS1 | c.7477T>C (p.Ser2493Pro) c.869T>C c.4929T>C c.1924T>C (p.Ser642Pro) c.7858T>C (p.Ser2620Pro) c.896-29958T>C c.2689T>C (p.Ser897Pro) c.7732T>C (p.Ser2578Pro) n.1661T>C c.7861T>C (p.Ser2621Pro) | |
2 | g.73489817T>G | CA347266019 | ALMS1 | c.7477T>G (p.Ser2493Ala) c.869T>G c.4929T>G c.1924T>G (p.Ser642Ala) c.7858T>G (p.Ser2620Ala) c.896-29958T>G c.2689T>G (p.Ser897Ala) c.7732T>G (p.Ser2578Ala) n.1661T>G c.7861T>G (p.Ser2621Ala) | |
2 | g.73489817T= | CA1260981176 | ALMS1 | c.7477T= (p.Ser2493=) c.869T= c.4929T= c.1924T= (p.Ser642=) c.7858T= (p.Ser2620=) c.896-29958T= c.2689T= (p.Ser897=) c.7732T= (p.Ser2578=) n.1661T= c.7861T= (p.Ser2621=) | |
2 | g.73489818C>A | CA347266024 | ALMS1 | c.7478C>A (p.Ser2493Ter) c.870C>A c.4930C>A c.1925C>A (p.Ser642Ter) c.7859C>A (p.Ser2620Ter) c.896-29957C>A c.2690C>A (p.Ser897Ter) c.7733C>A (p.Ser2578Ter) n.1662C>A c.7862C>A (p.Ser2621Ter) | |
2 | g.73489818C>G | CA347266026 | ALMS1 | c.7478C>G (p.Ser2493Ter) c.870C>G c.4930C>G c.1925C>G (p.Ser642Ter) c.7859C>G (p.Ser2620Ter) c.896-29957C>G c.2690C>G (p.Ser897Ter) c.7733C>G (p.Ser2578Ter) n.1662C>G c.7862C>G (p.Ser2621Ter) | |
2 | g.73489818C>T | CA347266028 | ALMS1 | c.7478C>T (p.Ser2493Leu) c.870C>T c.4930C>T c.1925C>T (p.Ser642Leu) c.7859C>T (p.Ser2620Leu) c.896-29957C>T c.2690C>T (p.Ser897Leu) c.7733C>T (p.Ser2578Leu) n.1662C>T c.7862C>T (p.Ser2621Leu) | |
2 | g.73489819A>C | CA427000651 | ALMS1 | c.7479A>C (p.Ser2493=) c.871A>C c.4931A>C c.1926A>C (p.Ser642=) c.7860A>C (p.Ser2620=) c.896-29956A>C c.2691A>C (p.Ser897=) c.7734A>C (p.Ser2578=) n.1663A>C c.7863A>C (p.Ser2621=) | |
2 | g.73489819A>G | CA427000652 | ALMS1 | c.7479A>G (p.Ser2493=) c.871A>G c.4931A>G c.1926A>G (p.Ser642=) c.7860A>G (p.Ser2620=) c.896-29956A>G c.2691A>G (p.Ser897=) c.7734A>G (p.Ser2578=) n.1663A>G c.7863A>G (p.Ser2621=) | |
2 | g.73489819A>T | CA427000653 | ALMS1 | c.7479A>T (p.Ser2493=) c.871A>T c.4931A>T c.1926A>T (p.Ser642=) c.7860A>T (p.Ser2620=) c.896-29956A>T c.2691A>T (p.Ser897=) c.7734A>T (p.Ser2578=) n.1663A>T c.7863A>T (p.Ser2621=) | |
2 | g.73489820T>A | CA347266030 | ALMS1 | c.7480T>A (p.Ser2494Thr) c.872T>A c.4932T>A c.1927T>A (p.Ser643Thr) c.7861T>A (p.Ser2621Thr) c.896-29955T>A c.2692T>A (p.Ser898Thr) c.7735T>A (p.Ser2579Thr) n.1664T>A c.7864T>A (p.Ser2622Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489820T>C | CA347266033 | ALMS1 | c.7480T>C (p.Ser2494Pro) c.872T>C c.4932T>C c.1927T>C (p.Ser643Pro) c.7861T>C (p.Ser2621Pro) c.896-29955T>C c.2692T>C (p.Ser898Pro) c.7735T>C (p.Ser2579Pro) n.1664T>C c.7864T>C (p.Ser2622Pro) | gnomAD v4 |
2 | g.73489820T>G | CA347266035 | ALMS1 | c.7480T>G (p.Ser2494Ala) c.872T>G c.4932T>G c.1927T>G (p.Ser643Ala) c.7861T>G (p.Ser2621Ala) c.896-29955T>G c.2692T>G (p.Ser898Ala) c.7735T>G (p.Ser2579Ala) n.1664T>G c.7864T>G (p.Ser2622Ala) | |
2 | g.73489820T= | CA1260981177 | ALMS1 | c.7480T= (p.Ser2494=) c.872T= c.4932T= c.1927T= (p.Ser643=) c.7861T= (p.Ser2621=) c.896-29955T= c.2692T= (p.Ser898=) c.7735T= (p.Ser2579=) n.1664T= c.7864T= (p.Ser2622=) | |
2 | g.73489821C>A | CA347266038 | ALMS1 | c.7481C>A (p.Ser2494Ter) c.873C>A c.4933C>A c.1928C>A (p.Ser643Ter) c.7862C>A (p.Ser2621Ter) c.896-29954C>A c.2693C>A (p.Ser898Ter) c.7736C>A (p.Ser2579Ter) n.1665C>A c.7865C>A (p.Ser2622Ter) | |
2 | g.73489821C= | CA1260981178 | ALMS1 | c.7481C= (p.Ser2494=) c.873C= c.4933C= c.1928C= (p.Ser643=) c.7862C= (p.Ser2621=) c.896-29954C= c.2693C= (p.Ser898=) c.7736C= (p.Ser2579=) n.1665C= c.7865C= (p.Ser2622=) | |
2 | g.73489821C>G | CA347266041 | ALMS1 | c.7481C>G (p.Ser2494Ter) c.873C>G c.4933C>G c.1928C>G (p.Ser643Ter) c.7862C>G (p.Ser2621Ter) c.896-29954C>G c.2693C>G (p.Ser898Ter) c.7736C>G (p.Ser2579Ter) n.1665C>G c.7865C>G (p.Ser2622Ter) | dbSNP |
2 | g.73489821C>T | CA347266043 | ALMS1 | c.7481C>T (p.Ser2494Leu) c.873C>T c.4933C>T c.1928C>T (p.Ser643Leu) c.7862C>T (p.Ser2621Leu) c.896-29954C>T c.2693C>T (p.Ser898Leu) c.7736C>T (p.Ser2579Leu) n.1665C>T c.7865C>T (p.Ser2622Leu) | |
2 | g.73489822A= | CA1260981179 | ALMS1 | c.7482A= (p.Ser2494=) c.874A= c.4934A= c.1929A= (p.Ser643=) c.7863A= (p.Ser2621=) c.896-29953A= c.2694A= (p.Ser898=) c.7737A= (p.Ser2579=) n.1666A= c.7866A= (p.Ser2622=) | |
2 | g.73489822A>C | CA427000654 | ALMS1 | c.7482A>C (p.Ser2494=) c.874A>C c.4934A>C c.1929A>C (p.Ser643=) c.7863A>C (p.Ser2621=) c.896-29953A>C c.2694A>C (p.Ser898=) c.7737A>C (p.Ser2579=) n.1666A>C c.7866A>C (p.Ser2622=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489822A>G | CA427000655 | ALMS1 | c.7482A>G (p.Ser2494=) c.874A>G c.4934A>G c.1929A>G (p.Ser643=) c.7863A>G (p.Ser2621=) c.896-29953A>G c.2694A>G (p.Ser898=) c.7737A>G (p.Ser2579=) n.1666A>G c.7866A>G (p.Ser2622=) | ClinVar |
2 | g.73489822A>T | CA427000656 | ALMS1 | c.7482A>T (p.Ser2494=) c.874A>T c.4934A>T c.1929A>T (p.Ser643=) c.7863A>T (p.Ser2621=) c.896-29953A>T c.2694A>T (p.Ser898=) c.7737A>T (p.Ser2579=) n.1666A>T c.7866A>T (p.Ser2622=) | |
2 | g.73489823T>A | CA347266048 | ALMS1 | c.7483T>A (p.Cys2495Ser) c.875T>A c.4935T>A c.1930T>A (p.Cys644Ser) c.7864T>A (p.Cys2622Ser) c.896-29952T>A c.2695T>A (p.Cys899Ser) c.7738T>A (p.Cys2580Ser) n.1667T>A c.7867T>A (p.Cys2623Ser) | |
2 | g.73489823T>C | CA347266050 | ALMS1 | c.7483T>C (p.Cys2495Arg) c.875T>C c.4935T>C c.1930T>C (p.Cys644Arg) c.7864T>C (p.Cys2622Arg) c.896-29952T>C c.2695T>C (p.Cys899Arg) c.7738T>C (p.Cys2580Arg) n.1667T>C c.7867T>C (p.Cys2623Arg) | gnomAD v4 |
2 | g.73489823T>G | CA347266046 | ALMS1 | c.7483T>G (p.Cys2495Gly) c.875T>G c.4935T>G c.1930T>G (p.Cys644Gly) c.7864T>G (p.Cys2622Gly) c.896-29952T>G c.2695T>G (p.Cys899Gly) c.7738T>G (p.Cys2580Gly) n.1667T>G c.7867T>G (p.Cys2623Gly) | dbSNP |
2 | g.73489823T= | CA1260981180 | ALMS1 | c.7483T= (p.Cys2495=) c.875T= c.4935T= c.1930T= (p.Cys644=) c.7864T= (p.Cys2622=) c.896-29952T= c.2695T= (p.Cys899=) c.7738T= (p.Cys2580=) n.1667T= c.7867T= (p.Cys2623=) | |
2 | g.73489823dup | CA2573135752 | ALMS1 | c.7483dup (p.Cys2495LeufsTer?) c.875dup c.4935dup c.1930dup (p.Cys644LeufsTer?) c.7864dup (p.Cys2622LeufsTer?) c.896-29952dup c.2695dup (p.Cys899LeufsTer?) c.7738dup (p.Cys2580LeufsTer?) n.1667dup c.7867dup (p.Cys2623LeufsTer?) | ClinVar dbSNP |
2 | g.73489824G>A | CA347266053 | ALMS1 | c.7484G>A (p.Cys2495Tyr) c.876G>A c.4936G>A c.1931G>A (p.Cys644Tyr) c.7865G>A (p.Cys2622Tyr) c.896-29951G>A c.2696G>A (p.Cys899Tyr) c.7739G>A (p.Cys2580Tyr) n.1668G>A c.7868G>A (p.Cys2623Tyr) | |
2 | g.73489824G>C | CA347266055 | ALMS1 | c.7484G>C (p.Cys2495Ser) c.876G>C c.4936G>C c.1931G>C (p.Cys644Ser) c.7865G>C (p.Cys2622Ser) c.896-29951G>C c.2696G>C (p.Cys899Ser) c.7739G>C (p.Cys2580Ser) n.1668G>C c.7868G>C (p.Cys2623Ser) | |
2 | g.73489824G>T | CA347266058 | ALMS1 | c.7484G>T (p.Cys2495Phe) c.876G>T c.4936G>T c.1931G>T (p.Cys644Phe) c.7865G>T (p.Cys2622Phe) c.896-29951G>T c.2696G>T (p.Cys899Phe) c.7739G>T (p.Cys2580Phe) n.1668G>T c.7868G>T (p.Cys2623Phe) | |
2 | g.73489825C>A | CA347266060 | ALMS1 | c.7485C>A (p.Cys2495Ter) c.877C>A c.4937C>A c.1932C>A (p.Cys644Ter) c.7866C>A (p.Cys2622Ter) c.896-29950C>A c.2697C>A (p.Cys899Ter) c.7740C>A (p.Cys2580Ter) n.1669C>A c.7869C>A (p.Cys2623Ter) | ClinVar |
2 | g.73489825C= | CA1260981181 | ALMS1 | c.7485C= (p.Cys2495=) c.877C= c.4937C= c.1932C= (p.Cys644=) c.7866C= (p.Cys2622=) c.896-29950C= c.2697C= (p.Cys899=) c.7740C= (p.Cys2580=) n.1669C= c.7869C= (p.Cys2623=) | |
2 | g.73489825C>G | CA347266061 | ALMS1 | c.7485C>G (p.Cys2495Trp) c.877C>G c.4937C>G c.1932C>G (p.Cys644Trp) c.7866C>G (p.Cys2622Trp) c.896-29950C>G c.2697C>G (p.Cys899Trp) c.7740C>G (p.Cys2580Trp) n.1669C>G c.7869C>G (p.Cys2623Trp) | |
2 | g.73489825C>T | CA1714360 | ALMS1 | c.7485C>T (p.Cys2495=) c.877C>T c.4937C>T c.1932C>T (p.Cys644=) c.7866C>T (p.Cys2622=) c.896-29950C>T c.2697C>T (p.Cys899=) c.7740C>T (p.Cys2580=) n.1669C>T c.7869C>T (p.Cys2623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489826A>C | CA427000657 | ALMS1 | c.7486A>C (p.Arg2496=) c.878A>C c.4938A>C c.1933A>C (p.Arg645=) c.7867A>C (p.Arg2623=) c.896-29949A>C c.2698A>C (p.Arg900=) c.7741A>C (p.Arg2581=) n.1670A>C c.7870A>C (p.Arg2624=) | |
2 | g.73489826A>G | CA347266068 | ALMS1 | c.7486A>G (p.Arg2496Gly) c.878A>G c.4938A>G c.1933A>G (p.Arg645Gly) c.7867A>G (p.Arg2623Gly) c.896-29949A>G c.2698A>G (p.Arg900Gly) c.7741A>G (p.Arg2581Gly) n.1670A>G c.7870A>G (p.Arg2624Gly) | |
2 | g.73489826A>T | CA347266071 | ALMS1 | c.7486A>T (p.Arg2496Ter) c.878A>T c.4938A>T c.1933A>T (p.Arg645Ter) c.7867A>T (p.Arg2623Ter) c.896-29949A>T c.2698A>T (p.Arg900Ter) c.7741A>T (p.Arg2581Ter) n.1670A>T c.7870A>T (p.Arg2624Ter) | |
2 | g.73489827G>A | CA347266075 | ALMS1 | c.7487G>A (p.Arg2496Lys) c.879G>A c.4939G>A c.1934G>A (p.Arg645Lys) c.7868G>A (p.Arg2623Lys) c.896-29948G>A c.2699G>A (p.Arg900Lys) c.7742G>A (p.Arg2581Lys) n.1671G>A c.7871G>A (p.Arg2624Lys) | |
2 | g.73489827G>C | CA347266078 | ALMS1 | c.7487G>C (p.Arg2496Thr) c.879G>C c.4939G>C c.1934G>C (p.Arg645Thr) c.7868G>C (p.Arg2623Thr) c.896-29948G>C c.2699G>C (p.Arg900Thr) c.7742G>C (p.Arg2581Thr) n.1671G>C c.7871G>C (p.Arg2624Thr) | gnomAD v4 |
2 | g.73489827G= | CA1260981182 | ALMS1 | c.7487G= (p.Arg2496=) c.879G= c.4939G= c.1934G= (p.Arg645=) c.7868G= (p.Arg2623=) c.896-29948G= c.2699G= (p.Arg900=) c.7742G= (p.Arg2581=) n.1671G= c.7871G= (p.Arg2624=) | |
2 | g.73489827G>T | CA50377591 | ALMS1 | c.7487G>T (p.Arg2496Ile) c.879G>T c.4939G>T c.1934G>T (p.Arg645Ile) c.7868G>T (p.Arg2623Ile) c.896-29948G>T c.2699G>T (p.Arg900Ile) c.7742G>T (p.Arg2581Ile) n.1671G>T c.7871G>T (p.Arg2624Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489828A>C | CA347266080 | ALMS1 | c.7488A>C (p.Arg2496Ser) c.880A>C c.4940A>C c.1935A>C (p.Arg645Ser) c.7869A>C (p.Arg2623Ser) c.896-29947A>C c.2700A>C (p.Arg900Ser) c.7743A>C (p.Arg2581Ser) n.1672A>C c.7872A>C (p.Arg2624Ser) | |
2 | g.73489828A>G | CA427000658 | ALMS1 | c.7488A>G (p.Arg2496=) c.880A>G c.4940A>G c.1935A>G (p.Arg645=) c.7869A>G (p.Arg2623=) c.896-29947A>G c.2700A>G (p.Arg900=) c.7743A>G (p.Arg2581=) n.1672A>G c.7872A>G (p.Arg2624=) | |
2 | g.73489828A>T | CA347266082 | ALMS1 | c.7488A>T (p.Arg2496Ser) c.880A>T c.4940A>T c.1935A>T (p.Arg645Ser) c.7869A>T (p.Arg2623Ser) c.896-29947A>T c.2700A>T (p.Arg900Ser) c.7743A>T (p.Arg2581Ser) n.1672A>T c.7872A>T (p.Arg2624Ser) | |
2 | g.73489829G>A | CA1714361 | ALMS1 | c.7489G>A (p.Ala2497Thr) c.881G>A c.4941G>A c.1936G>A (p.Ala646Thr) c.7870G>A (p.Ala2624Thr) c.896-29946G>A c.2701G>A (p.Ala901Thr) c.7744G>A (p.Ala2582Thr) n.1673G>A c.7873G>A (p.Ala2625Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489829G>C | CA50377594 | ALMS1 | c.7489G>C (p.Ala2497Pro) c.881G>C c.4941G>C c.1936G>C (p.Ala646Pro) c.7870G>C (p.Ala2624Pro) c.896-29946G>C c.2701G>C (p.Ala901Pro) c.7744G>C (p.Ala2582Pro) n.1673G>C c.7873G>C (p.Ala2625Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.73489829G= | CA1260981183 | ALMS1 | c.7489G= (p.Ala2497=) c.881G= c.4941G= c.1936G= (p.Ala646=) c.7870G= (p.Ala2624=) c.896-29946G= c.2701G= (p.Ala901=) c.7744G= (p.Ala2582=) n.1673G= c.7873G= (p.Ala2625=) | |
2 | g.73489829G>T | CA347266083 | ALMS1 | c.7489G>T (p.Ala2497Ser) c.881G>T c.4941G>T c.1936G>T (p.Ala646Ser) c.7870G>T (p.Ala2624Ser) c.896-29946G>T c.2701G>T (p.Ala901Ser) c.7744G>T (p.Ala2582Ser) n.1673G>T c.7873G>T (p.Ala2625Ser) | |
2 | g.73489830C>A | CA347266084 | ALMS1 | c.7490C>A (p.Ala2497Asp) c.882C>A c.4942C>A c.1937C>A (p.Ala646Asp) c.7871C>A (p.Ala2624Asp) c.896-29945C>A c.2702C>A (p.Ala901Asp) c.7745C>A (p.Ala2582Asp) n.1674C>A c.7874C>A (p.Ala2625Asp) | |
2 | g.73489830C>G | CA347266095 | ALMS1 | c.7490C>G (p.Ala2497Gly) c.882C>G c.4942C>G c.1937C>G (p.Ala646Gly) c.7871C>G (p.Ala2624Gly) c.896-29945C>G c.2702C>G (p.Ala901Gly) c.7745C>G (p.Ala2582Gly) n.1674C>G c.7874C>G (p.Ala2625Gly) | |
2 | g.73489830C>T | CA347266092 | ALMS1 | c.7490C>T (p.Ala2497Val) c.882C>T c.4942C>T c.1937C>T (p.Ala646Val) c.7871C>T (p.Ala2624Val) c.896-29945C>T c.2702C>T (p.Ala901Val) c.7745C>T (p.Ala2582Val) n.1674C>T c.7874C>T (p.Ala2625Val) | |
2 | g.73489831C>A | CA427000659 | ALMS1 | c.7491C>A (p.Ala2497=) c.883C>A c.4943C>A c.1938C>A (p.Ala646=) c.7872C>A (p.Ala2624=) c.896-29944C>A c.2703C>A (p.Ala901=) c.7746C>A (p.Ala2582=) n.1675C>A c.7875C>A (p.Ala2625=) | |
2 | g.73489831C= | CA1260981184 | ALMS1 | c.7491C= (p.Ala2497=) c.883C= c.4943C= c.1938C= (p.Ala646=) c.7872C= (p.Ala2624=) c.896-29944C= c.2703C= (p.Ala901=) c.7746C= (p.Ala2582=) n.1675C= c.7875C= (p.Ala2625=) | |
2 | g.73489831C>G | CA1714362 | ALMS1 | c.7491C>G (p.Ala2497=) c.883C>G c.4943C>G c.1938C>G (p.Ala646=) c.7872C>G (p.Ala2624=) c.896-29944C>G c.2703C>G (p.Ala901=) c.7746C>G (p.Ala2582=) n.1675C>G c.7875C>G (p.Ala2625=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489831C>T | CA427000660 | ALMS1 | c.7491C>T (p.Ala2497=) c.883C>T c.4943C>T c.1938C>T (p.Ala646=) c.7872C>T (p.Ala2624=) c.896-29944C>T c.2703C>T (p.Ala901=) c.7746C>T (p.Ala2582=) n.1675C>T c.7875C>T (p.Ala2625=) | |
2 | g.73489832A>C | CA347266101 | ALMS1 | c.7492A>C (p.Lys2498Gln) c.884A>C c.4944A>C c.1939A>C (p.Lys647Gln) c.7873A>C (p.Lys2625Gln) c.896-29943A>C c.2704A>C (p.Lys902Gln) c.7747A>C (p.Lys2583Gln) n.1676A>C c.7876A>C (p.Lys2626Gln) | |
2 | g.73489832A>G | CA347266102 | ALMS1 | c.7492A>G (p.Lys2498Glu) c.884A>G c.4944A>G c.1939A>G (p.Lys647Glu) c.7873A>G (p.Lys2625Glu) c.896-29943A>G c.2704A>G (p.Lys902Glu) c.7747A>G (p.Lys2583Glu) n.1676A>G c.7876A>G (p.Lys2626Glu) | |
2 | g.73489832A>T | CA347266103 | ALMS1 | c.7492A>T (p.Lys2498Ter) c.884A>T c.4944A>T c.1939A>T (p.Lys647Ter) c.7873A>T (p.Lys2625Ter) c.896-29943A>T c.2704A>T (p.Lys902Ter) c.7747A>T (p.Lys2583Ter) n.1676A>T c.7876A>T (p.Lys2626Ter) | |
2 | g.73489833A= | CA1260981185 | ALMS1 | c.7493A= (p.Lys2498=) c.885A= c.4945A= c.1940A= (p.Lys647=) c.7874A= (p.Lys2625=) c.896-29942A= c.2705A= (p.Lys902=) c.7748A= (p.Lys2583=) n.1677A= c.7877A= (p.Lys2626=) | |
2 | g.73489833A>C | CA347266104 | ALMS1 | c.7493A>C (p.Lys2498Thr) c.885A>C c.4945A>C c.1940A>C (p.Lys647Thr) c.7874A>C (p.Lys2625Thr) c.896-29942A>C c.2705A>C (p.Lys902Thr) c.7748A>C (p.Lys2583Thr) n.1677A>C c.7877A>C (p.Lys2626Thr) | |
2 | g.73489833A>G | CA347266105 | ALMS1 | c.7493A>G (p.Lys2498Arg) c.885A>G c.4945A>G c.1940A>G (p.Lys647Arg) c.7874A>G (p.Lys2625Arg) c.896-29942A>G c.2705A>G (p.Lys902Arg) c.7748A>G (p.Lys2583Arg) n.1677A>G c.7877A>G (p.Lys2626Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489833A>T | CA347266106 | ALMS1 | c.7493A>T (p.Lys2498Met) c.885A>T c.4945A>T c.1940A>T (p.Lys647Met) c.7874A>T (p.Lys2625Met) c.896-29942A>T c.2705A>T (p.Lys902Met) c.7748A>T (p.Lys2583Met) n.1677A>T c.7877A>T (p.Lys2626Met) | |
2 | g.73489834G>A | CA427000661 | ALMS1 | c.7494G>A (p.Lys2498=) c.886G>A c.4946G>A c.1941G>A (p.Lys647=) c.7875G>A (p.Lys2625=) c.896-29941G>A c.2706G>A (p.Lys902=) c.7749G>A (p.Lys2583=) n.1678G>A c.7878G>A (p.Lys2626=) | |
2 | g.73489834G>C | CA347266107 | ALMS1 | c.7494G>C (p.Lys2498Asn) c.886G>C c.4946G>C c.1941G>C (p.Lys647Asn) c.7875G>C (p.Lys2625Asn) c.896-29941G>C c.2706G>C (p.Lys902Asn) c.7749G>C (p.Lys2583Asn) n.1678G>C c.7878G>C (p.Lys2626Asn) | |
2 | g.73489834G>T | CA347266108 | ALMS1 | c.7494G>T (p.Lys2498Asn) c.886G>T c.4946G>T c.1941G>T (p.Lys647Asn) c.7875G>T (p.Lys2625Asn) c.896-29941G>T c.2706G>T (p.Lys902Asn) c.7749G>T (p.Lys2583Asn) n.1678G>T c.7878G>T (p.Lys2626Asn) | |
2 | g.73489835C>A | CA347266109 | ALMS1 | c.7495C>A (p.His2499Asn) c.887C>A c.4947C>A c.1942C>A (p.His648Asn) c.7876C>A (p.His2626Asn) c.896-29940C>A c.2707C>A (p.His903Asn) c.7750C>A (p.His2584Asn) n.1679C>A c.7879C>A (p.His2627Asn) | |
2 | g.73489835C= | CA1260981186 | ALMS1 | c.7495C= (p.His2499=) c.887C= c.4947C= c.1942C= (p.His648=) c.7876C= (p.His2626=) c.896-29940C= c.2707C= (p.His903=) c.7750C= (p.His2584=) n.1679C= c.7879C= (p.His2627=) | |
2 | g.73489835C>G | CA347266111 | ALMS1 | c.7495C>G (p.His2499Asp) c.887C>G c.4947C>G c.1942C>G (p.His648Asp) c.7876C>G (p.His2626Asp) c.896-29940C>G c.2707C>G (p.His903Asp) c.7750C>G (p.His2584Asp) n.1679C>G c.7879C>G (p.His2627Asp) | dbSNP gnomAD v4 |
2 | g.73489835C>T | CA347266113 | ALMS1 | c.7495C>T (p.His2499Tyr) c.887C>T c.4947C>T c.1942C>T (p.His648Tyr) c.7876C>T (p.His2626Tyr) c.896-29940C>T c.2707C>T (p.His903Tyr) c.7750C>T (p.His2584Tyr) n.1679C>T c.7879C>T (p.His2627Tyr) | gnomAD v4 |
2 | g.73489836A= | CA1260981187 | ALMS1 | c.7496A= (p.His2499=) c.888A= c.4948A= c.1943A= (p.His648=) c.7877A= (p.His2626=) c.896-29939A= c.2708A= (p.His903=) c.7751A= (p.His2584=) n.1680A= c.7880A= (p.His2627=) | |
2 | g.73489836A>C | CA347266119 | ALMS1 | c.7496A>C (p.His2499Pro) c.888A>C c.4948A>C c.1943A>C (p.His648Pro) c.7877A>C (p.His2626Pro) c.896-29939A>C c.2708A>C (p.His903Pro) c.7751A>C (p.His2584Pro) n.1680A>C c.7880A>C (p.His2627Pro) | |
2 | g.73489836A>G | CA1714363 | ALMS1 | c.7496A>G (p.His2499Arg) c.888A>G c.4948A>G c.1943A>G (p.His648Arg) c.7877A>G (p.His2626Arg) c.896-29939A>G c.2708A>G (p.His903Arg) c.7751A>G (p.His2584Arg) n.1680A>G c.7880A>G (p.His2627Arg) | dbSNP ExAC gnomAD v4 |
2 | g.73489836A>T | CA347266116 | ALMS1 | c.7496A>T (p.His2499Leu) c.888A>T c.4948A>T c.1943A>T (p.His648Leu) c.7877A>T (p.His2626Leu) c.896-29939A>T c.2708A>T (p.His903Leu) c.7751A>T (p.His2584Leu) n.1680A>T c.7880A>T (p.His2627Leu) | |
2 | g.73489837T>A | CA50377602 | ALMS1 | c.7497T>A (p.His2499Gln) c.889T>A c.4949T>A c.1944T>A (p.His648Gln) c.7878T>A (p.His2626Gln) c.896-29938T>A c.2709T>A (p.His903Gln) c.7752T>A (p.His2584Gln) n.1681T>A c.7881T>A (p.His2627Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489837T>C | CA427000662 | ALMS1 | c.7497T>C (p.His2499=) c.889T>C c.4949T>C c.1944T>C (p.His648=) c.7878T>C (p.His2626=) c.896-29938T>C c.2709T>C (p.His903=) c.7752T>C (p.His2584=) n.1681T>C c.7881T>C (p.His2627=) | gnomAD v4 |
2 | g.73489837T>G | CA347266133 | ALMS1 | c.7497T>G (p.His2499Gln) c.889T>G c.4949T>G c.1944T>G (p.His648Gln) c.7878T>G (p.His2626Gln) c.896-29938T>G c.2709T>G (p.His903Gln) c.7752T>G (p.His2584Gln) n.1681T>G c.7881T>G (p.His2627Gln) | |
2 | g.73489837T= | CA1260981188 | ALMS1 | c.7497T= (p.His2499=) c.889T= c.4949T= c.1944T= (p.His648=) c.7878T= (p.His2626=) c.896-29938T= c.2709T= (p.His903=) c.7752T= (p.His2584=) n.1681T= c.7881T= (p.His2627=) | |
2 | g.73489838G>A | CA347266135 | ALMS1 | c.7498G>A (p.Val2500Ile) c.890G>A c.4950G>A c.1945G>A (p.Val649Ile) c.7879G>A (p.Val2627Ile) c.896-29937G>A c.2710G>A (p.Val904Ile) c.7753G>A (p.Val2585Ile) n.1682G>A c.7882G>A (p.Val2628Ile) | |
2 | g.73489838G>C | CA347266138 | ALMS1 | c.7498G>C (p.Val2500Leu) c.890G>C c.4950G>C c.1945G>C (p.Val649Leu) c.7879G>C (p.Val2627Leu) c.896-29937G>C c.2710G>C (p.Val904Leu) c.7753G>C (p.Val2585Leu) n.1682G>C c.7882G>C (p.Val2628Leu) | |
2 | g.73489838G>T | CA347266141 | ALMS1 | c.7498G>T (p.Val2500Phe) c.890G>T c.4950G>T c.1945G>T (p.Val649Phe) c.7879G>T (p.Val2627Phe) c.896-29937G>T c.2710G>T (p.Val904Phe) c.7753G>T (p.Val2585Phe) n.1682G>T c.7882G>T (p.Val2628Phe) | |
2 | g.73489838_73489839insACAG | CA2499216253 | ALMS1 | c.7498_7499insACAG (p.Val2500AspfsTer?) c.890_891insACAG c.4950_4951insACAG c.1945_1946insACAG (p.Val649AspfsTer?) c.7879_7880insACAG (p.Val2627AspfsTer?) c.896-29937_896-29936insACAG c.2710_2711insACAG (p.Val904AspfsTer?) c.7753_7754insACAG (p.Val2585AspfsTer?) n.1682_1683insACAG c.7882_7883insACAG (p.Val2628AspfsTer?) | ClinVar dbSNP |
2 | g.73489839T>A | CA347266145 | ALMS1 | c.7499T>A (p.Val2500Asp) c.891T>A c.4951T>A c.1946T>A (p.Val649Asp) c.7880T>A (p.Val2627Asp) c.896-29936T>A c.2711T>A (p.Val904Asp) c.7754T>A (p.Val2585Asp) n.1683T>A c.7883T>A (p.Val2628Asp) | |
2 | g.73489839T>C | CA347266146 | ALMS1 | c.7499T>C (p.Val2500Ala) c.891T>C c.4951T>C c.1946T>C (p.Val649Ala) c.7880T>C (p.Val2627Ala) c.896-29936T>C c.2711T>C (p.Val904Ala) c.7754T>C (p.Val2585Ala) n.1683T>C c.7883T>C (p.Val2628Ala) | |
2 | g.73489839T>G | CA347266148 | ALMS1 | c.7499T>G (p.Val2500Gly) c.891T>G c.4951T>G c.1946T>G (p.Val649Gly) c.7880T>G (p.Val2627Gly) c.896-29936T>G c.2711T>G (p.Val904Gly) c.7754T>G (p.Val2585Gly) n.1683T>G c.7883T>G (p.Val2628Gly) | |
2 | g.73489840C>A | CA427000663 | ALMS1 | c.7500C>A (p.Val2500=) c.892C>A c.4952C>A c.1947C>A (p.Val649=) c.7881C>A (p.Val2627=) c.896-29935C>A c.2712C>A (p.Val904=) c.7755C>A (p.Val2585=) n.1684C>A c.7884C>A (p.Val2628=) | |
2 | g.73489840C>G | CA427000664 | ALMS1 | c.7500C>G (p.Val2500=) c.892C>G c.4952C>G c.1947C>G (p.Val649=) c.7881C>G (p.Val2627=) c.896-29935C>G c.2712C>G (p.Val904=) c.7755C>G (p.Val2585=) n.1684C>G c.7884C>G (p.Val2628=) | |
2 | g.73489840C>T | CA427000665 | ALMS1 | c.7500C>T (p.Val2500=) c.892C>T c.4952C>T c.1947C>T (p.Val649=) c.7881C>T (p.Val2627=) c.896-29935C>T c.2712C>T (p.Val904=) c.7755C>T (p.Val2585=) n.1684C>T c.7884C>T (p.Val2628=) | |
2 | g.73489841A= | CA1260981189 | ALMS1 | c.7501A= (p.Asn2501=) c.893A= c.4953A= c.1948A= (p.Asn650=) c.7882A= (p.Asn2628=) c.896-29934A= c.2713A= (p.Asn905=) c.7756A= (p.Asn2586=) n.1685A= c.7885A= (p.Asn2629=) | |
2 | g.73489841A>C | CA50377604 | ALMS1 | c.7501A>C (p.Asn2501His) c.893A>C c.4953A>C c.1948A>C (p.Asn650His) c.7882A>C (p.Asn2628His) c.896-29934A>C c.2713A>C (p.Asn905His) c.7756A>C (p.Asn2586His) n.1685A>C c.7885A>C (p.Asn2629His) | dbSNP gnomAD v4 |
2 | g.73489841A>G | CA347266153 | ALMS1 | c.7501A>G (p.Asn2501Asp) c.893A>G c.4953A>G c.1948A>G (p.Asn650Asp) c.7882A>G (p.Asn2628Asp) c.896-29934A>G c.2713A>G (p.Asn905Asp) c.7756A>G (p.Asn2586Asp) n.1685A>G c.7885A>G (p.Asn2629Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489841A>T | CA347266157 | ALMS1 | c.7501A>T (p.Asn2501Tyr) c.893A>T c.4953A>T c.1948A>T (p.Asn650Tyr) c.7882A>T (p.Asn2628Tyr) c.896-29934A>T c.2713A>T (p.Asn905Tyr) c.7756A>T (p.Asn2586Tyr) n.1685A>T c.7885A>T (p.Asn2629Tyr) | |
2 | g.73489842A= | CA1260981190 | ALMS1 | c.7502A= (p.Asn2501=) c.894A= c.4954A= c.1949A= (p.Asn650=) c.7883A= (p.Asn2628=) c.896-29933A= c.2714A= (p.Asn905=) c.7757A= (p.Asn2586=) n.1686A= c.7886A= (p.Asn2629=) | |
2 | g.73489842A>C | CA347266167 | ALMS1 | c.7502A>C (p.Asn2501Thr) c.894A>C c.4954A>C c.1949A>C (p.Asn650Thr) c.7883A>C (p.Asn2628Thr) c.896-29933A>C c.2714A>C (p.Asn905Thr) c.7757A>C (p.Asn2586Thr) n.1686A>C c.7886A>C (p.Asn2629Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489842A>G | CA1714364 | ALMS1 | c.7502A>G (p.Asn2501Ser) c.894A>G c.4954A>G c.1949A>G (p.Asn650Ser) c.7883A>G (p.Asn2628Ser) c.896-29933A>G c.2714A>G (p.Asn905Ser) c.7757A>G (p.Asn2586Ser) n.1686A>G c.7886A>G (p.Asn2629Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489842A>T | CA347266163 | ALMS1 | c.7502A>T (p.Asn2501Ile) c.894A>T c.4954A>T c.1949A>T (p.Asn650Ile) c.7883A>T (p.Asn2628Ile) c.896-29933A>T c.2714A>T (p.Asn905Ile) c.7757A>T (p.Asn2586Ile) n.1686A>T c.7886A>T (p.Asn2629Ile) | gnomAD v4 |
2 | g.73489843C>A | CA347266169 | ALMS1 | c.7503C>A (p.Asn2501Lys) c.895C>A c.4955C>A c.1950C>A (p.Asn650Lys) c.7884C>A (p.Asn2628Lys) c.896-29932C>A c.2715C>A (p.Asn905Lys) c.7758C>A (p.Asn2586Lys) n.1687C>A c.7887C>A (p.Asn2629Lys) | |
2 | g.73489843C>G | CA347266170 | ALMS1 | c.7503C>G (p.Asn2501Lys) c.895C>G c.4955C>G c.1950C>G (p.Asn650Lys) c.7884C>G (p.Asn2628Lys) c.896-29932C>G c.2715C>G (p.Asn905Lys) c.7758C>G (p.Asn2586Lys) n.1687C>G c.7887C>G (p.Asn2629Lys) | |
2 | g.73489843C>T | CA427000666 | ALMS1 | c.7503C>T (p.Asn2501=) c.895C>T c.4955C>T c.1950C>T (p.Asn650=) c.7884C>T (p.Asn2628=) c.896-29932C>T c.2715C>T (p.Asn905=) c.7758C>T (p.Asn2586=) n.1687C>T c.7887C>T (p.Asn2629=) | |
2 | g.73489844C>A | CA347266171 | ALMS1 | c.7504C>A (p.Leu2502Ile) c.896C>A c.4956C>A c.1951C>A (p.Leu651Ile) c.7885C>A (p.Leu2629Ile) c.896-29931C>A c.2716C>A (p.Leu906Ile) c.7759C>A (p.Leu2587Ile) n.1688C>A c.7888C>A (p.Leu2630Ile) | |
2 | g.73489844C>G | CA347266173 | ALMS1 | c.7504C>G (p.Leu2502Val) c.896C>G c.4956C>G c.1951C>G (p.Leu651Val) c.7885C>G (p.Leu2629Val) c.896-29931C>G c.2716C>G (p.Leu906Val) c.7759C>G (p.Leu2587Val) n.1688C>G c.7888C>G (p.Leu2630Val) | gnomAD v4 |
2 | g.73489844C>T | CA347266176 | ALMS1 | c.7504C>T (p.Leu2502Phe) c.896C>T c.4956C>T c.1951C>T (p.Leu651Phe) c.7885C>T (p.Leu2629Phe) c.896-29931C>T c.2716C>T (p.Leu906Phe) c.7759C>T (p.Leu2587Phe) n.1688C>T c.7888C>T (p.Leu2630Phe) | gnomAD v4 |
2 | g.73489845T>A | CA347266182 | ALMS1 | c.7505T>A (p.Leu2502His) c.897T>A c.4957T>A c.1952T>A (p.Leu651His) c.7886T>A (p.Leu2629His) c.896-29930T>A c.2717T>A (p.Leu906His) c.7760T>A (p.Leu2587His) n.1689T>A c.7889T>A (p.Leu2630His) | |
2 | g.73489845T>C | CA347266181 | ALMS1 | c.7505T>C (p.Leu2502Pro) c.897T>C c.4957T>C c.1952T>C (p.Leu651Pro) c.7886T>C (p.Leu2629Pro) c.896-29930T>C c.2717T>C (p.Leu906Pro) c.7760T>C (p.Leu2587Pro) n.1689T>C c.7889T>C (p.Leu2630Pro) | |
2 | g.73489845T>G | CA347266178 | ALMS1 | c.7505T>G (p.Leu2502Arg) c.897T>G c.4957T>G c.1952T>G (p.Leu651Arg) c.7886T>G (p.Leu2629Arg) c.896-29930T>G c.2717T>G (p.Leu906Arg) c.7760T>G (p.Leu2587Arg) n.1689T>G c.7889T>G (p.Leu2630Arg) | |
2 | g.73489846T>A | CA427000667 | ALMS1 | c.7506T>A (p.Leu2502=) c.898T>A c.4958T>A c.1953T>A (p.Leu651=) c.7887T>A (p.Leu2629=) c.896-29929T>A c.2718T>A (p.Leu906=) c.7761T>A (p.Leu2587=) n.1690T>A c.7890T>A (p.Leu2630=) | |
2 | g.73489846T>C | CA427000668 | ALMS1 | c.7506T>C (p.Leu2502=) c.898T>C c.4958T>C c.1953T>C (p.Leu651=) c.7887T>C (p.Leu2629=) c.896-29929T>C c.2718T>C (p.Leu906=) c.7761T>C (p.Leu2587=) n.1690T>C c.7890T>C (p.Leu2630=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489846T>G | CA427000669 | ALMS1 | c.7506T>G (p.Leu2502=) c.898T>G c.4958T>G c.1953T>G (p.Leu651=) c.7887T>G (p.Leu2629=) c.896-29929T>G c.2718T>G (p.Leu906=) c.7761T>G (p.Leu2587=) n.1690T>G c.7890T>G (p.Leu2630=) | ClinVar dbSNP |
2 | g.73489846T= | CA1260981191 | ALMS1 | c.7506T= (p.Leu2502=) c.898T= c.4958T= c.1953T= (p.Leu651=) c.7887T= (p.Leu2629=) c.896-29929T= c.2718T= (p.Leu906=) c.7761T= (p.Leu2587=) n.1690T= c.7890T= (p.Leu2630=) | |
2 | g.73489847T>A | CA347266185 | ALMS1 | c.7507T>A (p.Ser2503Thr) c.899T>A c.4959T>A c.1954T>A (p.Ser652Thr) c.7888T>A (p.Ser2630Thr) c.896-29928T>A c.2719T>A (p.Ser907Thr) c.7762T>A (p.Ser2588Thr) n.1691T>A c.7891T>A (p.Ser2631Thr) | |
2 | g.73489847T>C | CA347266187 | ALMS1 | c.7507T>C (p.Ser2503Pro) c.899T>C c.4959T>C c.1954T>C (p.Ser652Pro) c.7888T>C (p.Ser2630Pro) c.896-29928T>C c.2719T>C (p.Ser907Pro) c.7762T>C (p.Ser2588Pro) n.1691T>C c.7891T>C (p.Ser2631Pro) | |
2 | g.73489847T>G | CA347266190 | ALMS1 | c.7507T>G (p.Ser2503Ala) c.899T>G c.4959T>G c.1954T>G (p.Ser652Ala) c.7888T>G (p.Ser2630Ala) c.896-29928T>G c.2719T>G (p.Ser907Ala) c.7762T>G (p.Ser2588Ala) n.1691T>G c.7891T>G (p.Ser2631Ala) | ClinVar dbSNP |
2 | g.73489847T= | CA1260981192 | ALMS1 | c.7507T= (p.Ser2503=) c.899T= c.4959T= c.1954T= (p.Ser652=) c.7888T= (p.Ser2630=) c.896-29928T= c.2719T= (p.Ser907=) c.7762T= (p.Ser2588=) n.1691T= c.7891T= (p.Ser2631=) | |
2 | g.73489848C>A | CA347266192 | ALMS1 | c.7508C>A (p.Ser2503Tyr) c.900C>A c.4960C>A c.1955C>A (p.Ser652Tyr) c.7889C>A (p.Ser2630Tyr) c.896-29927C>A c.2720C>A (p.Ser907Tyr) c.7763C>A (p.Ser2588Tyr) n.1692C>A c.7892C>A (p.Ser2631Tyr) | |
2 | g.73489848C= | CA1260981193 | ALMS1 | c.7508C= (p.Ser2503=) c.900C= c.4960C= c.1955C= (p.Ser652=) c.7889C= (p.Ser2630=) c.896-29927C= c.2720C= (p.Ser907=) c.7763C= (p.Ser2588=) n.1692C= c.7892C= (p.Ser2631=) | |
2 | g.73489848C>G | CA1714365 | ALMS1 | c.7508C>G (p.Ser2503Cys) c.900C>G c.4960C>G c.1955C>G (p.Ser652Cys) c.7889C>G (p.Ser2630Cys) c.896-29927C>G c.2720C>G (p.Ser907Cys) c.7763C>G (p.Ser2588Cys) n.1692C>G c.7892C>G (p.Ser2631Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489848C>T | CA347266194 | ALMS1 | c.7508C>T (p.Ser2503Phe) c.900C>T c.4960C>T c.1955C>T (p.Ser652Phe) c.7889C>T (p.Ser2630Phe) c.896-29927C>T c.2720C>T (p.Ser907Phe) c.7763C>T (p.Ser2588Phe) n.1692C>T c.7892C>T (p.Ser2631Phe) | dbSNP gnomAD v4 |
2 | g.73489849T>A | CA427000670 | ALMS1 | c.7509T>A (p.Ser2503=) c.901T>A c.4961T>A c.1956T>A (p.Ser652=) c.7890T>A (p.Ser2630=) c.896-29926T>A c.2721T>A (p.Ser907=) c.7764T>A (p.Ser2588=) n.1693T>A c.7893T>A (p.Ser2631=) | |
2 | g.73489849T>C | CA427000671 | ALMS1 | c.7509T>C (p.Ser2503=) c.901T>C c.4961T>C c.1956T>C (p.Ser652=) c.7890T>C (p.Ser2630=) c.896-29926T>C c.2721T>C (p.Ser907=) c.7764T>C (p.Ser2588=) n.1693T>C c.7893T>C (p.Ser2631=) | ClinVar |
2 | g.73489849T>G | CA427000672 | ALMS1 | c.7509T>G (p.Ser2503=) c.901T>G c.4961T>G c.1956T>G (p.Ser652=) c.7890T>G (p.Ser2630=) c.896-29926T>G c.2721T>G (p.Ser907=) c.7764T>G (p.Ser2588=) n.1693T>G c.7893T>G (p.Ser2631=) | gnomAD v4 |
2 | g.73489850G>A | CA347266196 | ALMS1 | c.7510G>A (p.Ala2504Thr) c.902G>A c.4962G>A c.1957G>A (p.Ala653Thr) c.7891G>A (p.Ala2631Thr) c.896-29925G>A c.2722G>A (p.Ala908Thr) c.7765G>A (p.Ala2589Thr) n.1694G>A c.7894G>A (p.Ala2632Thr) | |
2 | g.73489850G>C | CA347266201 | ALMS1 | c.7510G>C (p.Ala2504Pro) c.902G>C c.4962G>C c.1957G>C (p.Ala653Pro) c.7891G>C (p.Ala2631Pro) c.896-29925G>C c.2722G>C (p.Ala908Pro) c.7765G>C (p.Ala2589Pro) n.1694G>C c.7894G>C (p.Ala2632Pro) | |
2 | g.73489850G>T | CA347266198 | ALMS1 | c.7510G>T (p.Ala2504Ser) c.902G>T c.4962G>T c.1957G>T (p.Ala653Ser) c.7891G>T (p.Ala2631Ser) c.896-29925G>T c.2722G>T (p.Ala908Ser) c.7765G>T (p.Ala2589Ser) n.1694G>T c.7894G>T (p.Ala2632Ser) | gnomAD v4 |
2 | g.73489851C>A | CA347266205 | ALMS1 | c.7511C>A (p.Ala2504Glu) c.903C>A c.4963C>A c.1958C>A (p.Ala653Glu) c.7892C>A (p.Ala2631Glu) c.896-29924C>A c.2723C>A (p.Ala908Glu) c.7766C>A (p.Ala2589Glu) n.1695C>A c.7895C>A (p.Ala2632Glu) | |
2 | g.73489851C= | CA1260981194 | ALMS1 | c.7511C= (p.Ala2504=) c.903C= c.4963C= c.1958C= (p.Ala653=) c.7892C= (p.Ala2631=) c.896-29924C= c.2723C= (p.Ala908=) c.7766C= (p.Ala2589=) n.1695C= c.7895C= (p.Ala2632=) | |
2 | g.73489851C>G | CA347266206 | ALMS1 | c.7511C>G (p.Ala2504Gly) c.903C>G c.4963C>G c.1958C>G (p.Ala653Gly) c.7892C>G (p.Ala2631Gly) c.896-29924C>G c.2723C>G (p.Ala908Gly) c.7766C>G (p.Ala2589Gly) n.1695C>G c.7895C>G (p.Ala2632Gly) | |
2 | g.73489851C>T | CA50377645 | ALMS1 | c.7511C>T (p.Ala2504Val) c.903C>T c.4963C>T c.1958C>T (p.Ala653Val) c.7892C>T (p.Ala2631Val) c.896-29924C>T c.2723C>T (p.Ala908Val) c.7766C>T (p.Ala2589Val) n.1695C>T c.7895C>T (p.Ala2632Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489852A>C | CA427000675 | ALMS1 | c.7512A>C (p.Ala2504=) c.904A>C c.4964A>C c.1959A>C (p.Ala653=) c.7893A>C (p.Ala2631=) c.896-29923A>C c.2724A>C (p.Ala908=) c.7767A>C (p.Ala2589=) n.1696A>C c.7896A>C (p.Ala2632=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489852A>G | CA427000673 | ALMS1 | c.7512A>G (p.Ala2504=) c.904A>G c.4964A>G c.1959A>G (p.Ala653=) c.7893A>G (p.Ala2631=) c.896-29923A>G c.2724A>G (p.Ala908=) c.7767A>G (p.Ala2589=) n.1696A>G c.7896A>G (p.Ala2632=) | |
2 | g.73489852A>T | CA427000674 | ALMS1 | c.7512A>T (p.Ala2504=) c.904A>T c.4964A>T c.1959A>T (p.Ala653=) c.7893A>T (p.Ala2631=) c.896-29923A>T c.2724A>T (p.Ala908=) c.7767A>T (p.Ala2589=) n.1696A>T c.7896A>T (p.Ala2632=) | gnomAD v4 |
2 | g.73489853T>A | CA347266208 | ALMS1 | c.7513T>A (p.Ser2505Thr) c.905T>A c.4965T>A c.1960T>A (p.Ser654Thr) c.7894T>A (p.Ser2632Thr) c.896-29922T>A c.2725T>A (p.Ser909Thr) c.7768T>A (p.Ser2590Thr) n.1697T>A c.7897T>A (p.Ser2633Thr) | |
2 | g.73489853T>C | CA347266210 | ALMS1 | c.7513T>C (p.Ser2505Pro) c.905T>C c.4965T>C c.1960T>C (p.Ser654Pro) c.7894T>C (p.Ser2632Pro) c.896-29922T>C c.2725T>C (p.Ser909Pro) c.7768T>C (p.Ser2590Pro) n.1697T>C c.7897T>C (p.Ser2633Pro) | |
2 | g.73489853T>G | CA347266213 | ALMS1 | c.7513T>G (p.Ser2505Ala) c.905T>G c.4965T>G c.1960T>G (p.Ser654Ala) c.7894T>G (p.Ser2632Ala) c.896-29922T>G c.2725T>G (p.Ser909Ala) c.7768T>G (p.Ser2590Ala) n.1697T>G c.7897T>G (p.Ser2633Ala) | |
2 | g.73489854C>A | CA347266214 | ALMS1 | c.7514C>A (p.Ser2505Tyr) c.906C>A c.4966C>A c.1961C>A (p.Ser654Tyr) c.7895C>A (p.Ser2632Tyr) c.896-29921C>A c.2726C>A (p.Ser909Tyr) c.7769C>A (p.Ser2590Tyr) n.1698C>A c.7898C>A (p.Ser2633Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489854C= | CA1260981195 | ALMS1 | c.7514C= (p.Ser2505=) c.906C= c.4966C= c.1961C= (p.Ser654=) c.7895C= (p.Ser2632=) c.896-29921C= c.2726C= (p.Ser909=) c.7769C= (p.Ser2590=) n.1698C= c.7898C= (p.Ser2633=) | |
2 | g.73489854C>G | CA347266215 | ALMS1 | c.7514C>G (p.Ser2505Cys) c.906C>G c.4966C>G c.1961C>G (p.Ser654Cys) c.7895C>G (p.Ser2632Cys) c.896-29921C>G c.2726C>G (p.Ser909Cys) c.7769C>G (p.Ser2590Cys) n.1698C>G c.7898C>G (p.Ser2633Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489854C>T | CA347266216 | ALMS1 | c.7514C>T (p.Ser2505Phe) c.906C>T c.4966C>T c.1961C>T (p.Ser654Phe) c.7895C>T (p.Ser2632Phe) c.896-29921C>T c.2726C>T (p.Ser909Phe) c.7769C>T (p.Ser2590Phe) n.1698C>T c.7898C>T (p.Ser2633Phe) | |
2 | g.73489854_73489855insTATAAGCACCTATGAG | CA1260981196 | ALMS1 | c.7514_7515insTATAAGCACCTATGAG (p.Leu2506IlefsTer33) c.906_907insTATAAGCACCTATGAG c.4966_4967insTATAAGCACCTATGAG c.1961_1962insTATAAGCACCTATGAG (p.Leu655IlefsTer33) c.7895_7896insTATAAGCACCTATGAG (p.Leu2633IlefsTer33) c.896-29921_896-29920insTATAAGCACCTATGAG c.2726_2727insTATAAGCACCTATGAG (p.Leu910IlefsTer33) c.7769_7770insTATAAGCACCTATGAG (p.Leu2591IlefsTer33) n.1698_1699insTATAAGCACCTATGAG c.7898_7899insTATAAGCACCTATGAG (p.Leu2634IlefsTer33) | dbSNP |
2 | g.73489855C>A | CA427000676 | ALMS1 | c.7515C>A (p.Ser2505=) c.907C>A c.4967C>A c.1962C>A (p.Ser654=) c.7896C>A (p.Ser2632=) c.896-29920C>A c.2727C>A (p.Ser909=) c.7770C>A (p.Ser2590=) n.1699C>A c.7899C>A (p.Ser2633=) | |
2 | g.73489855C>G | CA427000677 | ALMS1 | c.7515C>G (p.Ser2505=) c.907C>G c.4967C>G c.1962C>G (p.Ser654=) c.7896C>G (p.Ser2632=) c.896-29920C>G c.2727C>G (p.Ser909=) c.7770C>G (p.Ser2590=) n.1699C>G c.7899C>G (p.Ser2633=) | |
2 | g.73489855C>T | CA427000678 | ALMS1 | c.7515C>T (p.Ser2505=) c.907C>T c.4967C>T c.1962C>T (p.Ser654=) c.7896C>T (p.Ser2632=) c.896-29920C>T c.2727C>T (p.Ser909=) c.7770C>T (p.Ser2590=) n.1699C>T c.7899C>T (p.Ser2633=) | gnomAD v4 |
2 | g.73489856T>A | CA347266217 | ALMS1 | c.7516T>A (p.Leu2506Ile) c.908T>A c.4968T>A c.1963T>A (p.Leu655Ile) c.7897T>A (p.Leu2633Ile) c.896-29919T>A c.2728T>A (p.Leu910Ile) c.7771T>A (p.Leu2591Ile) n.1700T>A c.7900T>A (p.Leu2634Ile) | |
2 | g.73489856T>C | CA427000679 | ALMS1 | c.7516T>C (p.Leu2506=) c.908T>C c.4968T>C c.1963T>C (p.Leu655=) c.7897T>C (p.Leu2633=) c.896-29919T>C c.2728T>C (p.Leu910=) c.7771T>C (p.Leu2591=) n.1700T>C c.7900T>C (p.Leu2634=) | |
2 | g.73489856T>G | CA347266219 | ALMS1 | c.7516T>G (p.Leu2506Val) c.908T>G c.4968T>G c.1963T>G (p.Leu655Val) c.7897T>G (p.Leu2633Val) c.896-29919T>G c.2728T>G (p.Leu910Val) c.7771T>G (p.Leu2591Val) n.1700T>G c.7900T>G (p.Leu2634Val) | |
2 | g.73489857T>A | CA347266224 | ALMS1 | c.7517T>A (p.Leu2506Ter) c.909T>A c.4969T>A c.1964T>A (p.Leu655Ter) c.7898T>A (p.Leu2633Ter) c.896-29918T>A c.2729T>A (p.Leu910Ter) c.7772T>A (p.Leu2591Ter) n.1701T>A c.7901T>A (p.Leu2634Ter) | ClinVar |
2 | g.73489857T>C | CA347266227 | ALMS1 | c.7517T>C (p.Leu2506Ser) c.909T>C c.4969T>C c.1964T>C (p.Leu655Ser) c.7898T>C (p.Leu2633Ser) c.896-29918T>C c.2729T>C (p.Leu910Ser) c.7772T>C (p.Leu2591Ser) n.1701T>C c.7901T>C (p.Leu2634Ser) | ClinVar dbSNP |
2 | g.73489857T>G | CA347266221 | ALMS1 | c.7517T>G (p.Leu2506Ter) c.909T>G c.4969T>G c.1964T>G (p.Leu655Ter) c.7898T>G (p.Leu2633Ter) c.896-29918T>G c.2729T>G (p.Leu910Ter) c.7772T>G (p.Leu2591Ter) n.1701T>G c.7901T>G (p.Leu2634Ter) | |
2 | g.73489858A>C | CA347266232 | ALMS1 | c.7518A>C (p.Leu2506Phe) c.910A>C c.4970A>C c.1965A>C (p.Leu655Phe) c.7899A>C (p.Leu2633Phe) c.896-29917A>C c.2730A>C (p.Leu910Phe) c.7773A>C (p.Leu2591Phe) n.1702A>C c.7902A>C (p.Leu2634Phe) | |
2 | g.73489858A>G | CA427000680 | ALMS1 | c.7518A>G (p.Leu2506=) c.910A>G c.4970A>G c.1965A>G (p.Leu655=) c.7899A>G (p.Leu2633=) c.896-29917A>G c.2730A>G (p.Leu910=) c.7773A>G (p.Leu2591=) n.1702A>G c.7902A>G (p.Leu2634=) | gnomAD v4 |
2 | g.73489858A>T | CA347266229 | ALMS1 | c.7518A>T (p.Leu2506Phe) c.910A>T c.4970A>T c.1965A>T (p.Leu655Phe) c.7899A>T (p.Leu2633Phe) c.896-29917A>T c.2730A>T (p.Leu910Phe) c.7773A>T (p.Leu2591Phe) n.1702A>T c.7902A>T (p.Leu2634Phe) | |
2 | g.73489859G>A | CA347266239 | ALMS1 | c.7519G>A (p.Asp2507Asn) c.911G>A c.4971G>A c.1966G>A (p.Asp656Asn) c.7900G>A (p.Asp2634Asn) c.896-29916G>A c.2731G>A (p.Asp911Asn) c.7774G>A (p.Asp2592Asn) n.1703G>A c.7903G>A (p.Asp2635Asn) | |
2 | g.73489859G>C | CA347266235 | ALMS1 | c.7519G>C (p.Asp2507His) c.911G>C c.4971G>C c.1966G>C (p.Asp656His) c.7900G>C (p.Asp2634His) c.896-29916G>C c.2731G>C (p.Asp911His) c.7774G>C (p.Asp2592His) n.1703G>C c.7903G>C (p.Asp2635His) | gnomAD v4 |
2 | g.73489859G= | CA1260981197 | ALMS1 | c.7519G= (p.Asp2507=) c.911G= c.4971G= c.1966G= (p.Asp656=) c.7900G= (p.Asp2634=) c.896-29916G= c.2731G= (p.Asp911=) c.7774G= (p.Asp2592=) n.1703G= c.7903G= (p.Asp2635=) | |
2 | g.73489859G>T | CA1714366 | ALMS1 | c.7519G>T (p.Asp2507Tyr) c.911G>T c.4971G>T c.1966G>T (p.Asp656Tyr) c.7900G>T (p.Asp2634Tyr) c.896-29916G>T c.2731G>T (p.Asp911Tyr) c.7774G>T (p.Asp2592Tyr) n.1703G>T c.7903G>T (p.Asp2635Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489860A= | CA1260981198 | ALMS1 | c.7520A= (p.Asp2507=) c.912A= c.4972A= c.1967A= (p.Asp656=) c.7901A= (p.Asp2634=) c.896-29915A= c.2732A= (p.Asp911=) c.7775A= (p.Asp2592=) n.1704A= c.7904A= (p.Asp2635=) | |
2 | g.73489860A>C | CA347266242 | ALMS1 | c.7520A>C (p.Asp2507Ala) c.912A>C c.4972A>C c.1967A>C (p.Asp656Ala) c.7901A>C (p.Asp2634Ala) c.896-29915A>C c.2732A>C (p.Asp911Ala) c.7775A>C (p.Asp2592Ala) n.1704A>C c.7904A>C (p.Asp2635Ala) | |
2 | g.73489860A>G | CA347266244 | ALMS1 | c.7520A>G (p.Asp2507Gly) c.912A>G c.4972A>G c.1967A>G (p.Asp656Gly) c.7901A>G (p.Asp2634Gly) c.896-29915A>G c.2732A>G (p.Asp911Gly) c.7775A>G (p.Asp2592Gly) n.1704A>G c.7904A>G (p.Asp2635Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73489860A>T | CA347266245 | ALMS1 | c.7520A>T (p.Asp2507Val) c.912A>T c.4972A>T c.1967A>T (p.Asp656Val) c.7901A>T (p.Asp2634Val) c.896-29915A>T c.2732A>T (p.Asp911Val) c.7775A>T (p.Asp2592Val) n.1704A>T c.7904A>T (p.Asp2635Val) | dbSNP |
2 | g.73489861C>A | CA347266249 | ALMS1 | c.7521C>A (p.Asp2507Glu) c.913C>A c.4973C>A c.1968C>A (p.Asp656Glu) c.7902C>A (p.Asp2634Glu) c.896-29914C>A c.2733C>A (p.Asp911Glu) c.7776C>A (p.Asp2592Glu) n.1705C>A c.7905C>A (p.Asp2635Glu) | |
2 | g.73489861C= | CA1260981199 | ALMS1 | c.7521C= (p.Asp2507=) c.913C= c.4973C= c.1968C= (p.Asp656=) c.7902C= (p.Asp2634=) c.896-29914C= c.2733C= (p.Asp911=) c.7776C= (p.Asp2592=) n.1705C= c.7905C= (p.Asp2635=) | |
2 | g.73489861C>G | CA1714367 | ALMS1 | c.7521C>G (p.Asp2507Glu) c.913C>G c.4973C>G c.1968C>G (p.Asp656Glu) c.7902C>G (p.Asp2634Glu) c.896-29914C>G c.2733C>G (p.Asp911Glu) c.7776C>G (p.Asp2592Glu) n.1705C>G c.7905C>G (p.Asp2635Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489861C>T | CA1714368 | ALMS1 | c.7521C>T (p.Asp2507=) c.913C>T c.4973C>T c.1968C>T (p.Asp656=) c.7902C>T (p.Asp2634=) c.896-29914C>T c.2733C>T (p.Asp911=) c.7776C>T (p.Asp2592=) n.1705C>T c.7905C>T (p.Asp2635=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489862C>A | CA347266257 | ALMS1 | c.7522C>A (p.Gln2508Lys) c.914C>A c.4974C>A c.1969C>A (p.Gln657Lys) c.7903C>A (p.Gln2635Lys) c.896-29913C>A c.2734C>A (p.Gln912Lys) c.7777C>A (p.Gln2593Lys) n.1706C>A c.7906C>A (p.Gln2636Lys) | |
2 | g.73489862C>G | CA347266259 | ALMS1 | c.7522C>G (p.Gln2508Glu) c.914C>G c.4974C>G c.1969C>G (p.Gln657Glu) c.7903C>G (p.Gln2635Glu) c.896-29913C>G c.2734C>G (p.Gln912Glu) c.7777C>G (p.Gln2593Glu) n.1706C>G c.7906C>G (p.Gln2636Glu) | gnomAD v4 |
2 | g.73489862C>T | CA347266262 | ALMS1 | c.7522C>T (p.Gln2508Ter) c.914C>T c.4974C>T c.1969C>T (p.Gln657Ter) c.7903C>T (p.Gln2635Ter) c.896-29913C>T c.2734C>T (p.Gln912Ter) c.7777C>T (p.Gln2593Ter) n.1706C>T c.7906C>T (p.Gln2636Ter) | |
2 | g.73489863A>C | CA347266264 | ALMS1 | c.7523A>C (p.Gln2508Pro) c.915A>C c.4975A>C c.1970A>C (p.Gln657Pro) c.7904A>C (p.Gln2635Pro) c.896-29912A>C c.2735A>C (p.Gln912Pro) c.7778A>C (p.Gln2593Pro) n.1707A>C c.7907A>C (p.Gln2636Pro) | gnomAD v4 |
2 | g.73489863A>G | CA347266267 | ALMS1 | c.7523A>G (p.Gln2508Arg) c.915A>G c.4975A>G c.1970A>G (p.Gln657Arg) c.7904A>G (p.Gln2635Arg) c.896-29912A>G c.2735A>G (p.Gln912Arg) c.7778A>G (p.Gln2593Arg) n.1707A>G c.7907A>G (p.Gln2636Arg) | ClinVar |
2 | g.73489863A>T | CA347266270 | ALMS1 | c.7523A>T (p.Gln2508Leu) c.915A>T c.4975A>T c.1970A>T (p.Gln657Leu) c.7904A>T (p.Gln2635Leu) c.896-29912A>T c.2735A>T (p.Gln912Leu) c.7778A>T (p.Gln2593Leu) n.1707A>T c.7907A>T (p.Gln2636Leu) | |
2 | g.73489864G>A | CA427000681 | ALMS1 | c.7524G>A (p.Gln2508=) c.916G>A c.4976G>A c.1971G>A (p.Gln657=) c.7905G>A (p.Gln2635=) c.896-29911G>A c.2736G>A (p.Gln912=) c.7779G>A (p.Gln2593=) n.1708G>A c.7908G>A (p.Gln2636=) | |
2 | g.73489864G>C | CA347266274 | ALMS1 | c.7524G>C (p.Gln2508His) c.916G>C c.4976G>C c.1971G>C (p.Gln657His) c.7905G>C (p.Gln2635His) c.896-29911G>C c.2736G>C (p.Gln912His) c.7779G>C (p.Gln2593His) n.1708G>C c.7908G>C (p.Gln2636His) | |
2 | g.73489864G>T | CA347266275 | ALMS1 | c.7524G>T (p.Gln2508His) c.916G>T c.4976G>T c.1971G>T (p.Gln657His) c.7905G>T (p.Gln2635His) c.896-29911G>T c.2736G>T (p.Gln912His) c.7779G>T (p.Gln2593His) n.1708G>T c.7908G>T (p.Gln2636His) | |
2 | g.73489865A>C | CA347266279 | ALMS1 | c.7525A>C (p.Asn2509His) c.917A>C c.4977A>C c.1972A>C (p.Asn658His) c.7906A>C (p.Asn2636His) c.896-29910A>C c.2737A>C (p.Asn913His) c.7780A>C (p.Asn2594His) n.1709A>C c.7909A>C (p.Asn2637His) | |
2 | g.73489865A>G | CA347266282 | ALMS1 | c.7525A>G (p.Asn2509Asp) c.917A>G c.4977A>G c.1972A>G (p.Asn658Asp) c.7906A>G (p.Asn2636Asp) c.896-29910A>G c.2737A>G (p.Asn913Asp) c.7780A>G (p.Asn2594Asp) n.1709A>G c.7909A>G (p.Asn2637Asp) | |
2 | g.73489865A>T | CA347266284 | ALMS1 | c.7525A>T (p.Asn2509Tyr) c.917A>T c.4977A>T c.1972A>T (p.Asn658Tyr) c.7906A>T (p.Asn2636Tyr) c.896-29910A>T c.2737A>T (p.Asn913Tyr) c.7780A>T (p.Asn2594Tyr) n.1709A>T c.7909A>T (p.Asn2637Tyr) | |
2 | g.73489868_73489870del | CA2750465613 | ALMS1 | c.7528_7530del (p.Asn2510del) c.920_922del c.4980_4982del c.1975_1977del (p.Asn659del) c.7909_7911del (p.Asn2637del) c.896-29907_896-29905del c.2740_2742del (p.Asn914del) c.7783_7785del (p.Asn2595del) n.1712_1714del c.7912_7914del (p.Asn2638del) | |
2 | g.73489866A= | CA1260981200 | ALMS1 | c.7526A= (p.Asn2509=) c.918A= c.4978A= c.1973A= (p.Asn658=) c.7907A= (p.Asn2636=) c.896-29909A= c.2738A= (p.Asn913=) c.7781A= (p.Asn2594=) n.1710A= c.7910A= (p.Asn2637=) | |
2 | g.73489866A>C | CA1714369 | ALMS1 | c.7526A>C (p.Asn2509Thr) c.918A>C c.4978A>C c.1973A>C (p.Asn658Thr) c.7907A>C (p.Asn2636Thr) c.896-29909A>C c.2738A>C (p.Asn913Thr) c.7781A>C (p.Asn2594Thr) n.1710A>C c.7910A>C (p.Asn2637Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489866A>G | CA347266285 | ALMS1 | c.7526A>G (p.Asn2509Ser) c.918A>G c.4978A>G c.1973A>G (p.Asn658Ser) c.7907A>G (p.Asn2636Ser) c.896-29909A>G c.2738A>G (p.Asn913Ser) c.7781A>G (p.Asn2594Ser) n.1710A>G c.7910A>G (p.Asn2637Ser) | dbSNP gnomAD v4 |
2 | g.73489866A>T | CA347266286 | ALMS1 | c.7526A>T (p.Asn2509Ile) c.918A>T c.4978A>T c.1973A>T (p.Asn658Ile) c.7907A>T (p.Asn2636Ile) c.896-29909A>T c.2738A>T (p.Asn913Ile) c.7781A>T (p.Asn2594Ile) n.1710A>T c.7910A>T (p.Asn2637Ile) | |
2 | g.73489867C>A | CA347266287 | ALMS1 | c.7527C>A (p.Asn2509Lys) c.919C>A c.4979C>A c.1974C>A (p.Asn658Lys) c.7908C>A (p.Asn2636Lys) c.896-29908C>A c.2739C>A (p.Asn913Lys) c.7782C>A (p.Asn2594Lys) n.1711C>A c.7911C>A (p.Asn2637Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489867C= | CA1260981201 | ALMS1 | c.7527C= (p.Asn2509=) c.919C= c.4979C= c.1974C= (p.Asn658=) c.7908C= (p.Asn2636=) c.896-29908C= c.2739C= (p.Asn913=) c.7782C= (p.Asn2594=) n.1711C= c.7911C= (p.Asn2637=) | |
2 | g.73489867C>G | CA347266288 | ALMS1 | c.7527C>G (p.Asn2509Lys) c.919C>G c.4979C>G c.1974C>G (p.Asn658Lys) c.7908C>G (p.Asn2636Lys) c.896-29908C>G c.2739C>G (p.Asn913Lys) c.7782C>G (p.Asn2594Lys) n.1711C>G c.7911C>G (p.Asn2637Lys) | gnomAD v4 |
2 | g.73489867C>T | CA427000682 | ALMS1 | c.7527C>T (p.Asn2509=) c.919C>T c.4979C>T c.1974C>T (p.Asn658=) c.7908C>T (p.Asn2636=) c.896-29908C>T c.2739C>T (p.Asn913=) c.7782C>T (p.Asn2594=) n.1711C>T c.7911C>T (p.Asn2637=) | ClinVar |
2 | g.73489867dup | CA2586969427 | ALMS1 | c.7527dup (p.Asn2510GlnfsTer24) c.919dup c.4979dup c.1974dup (p.Asn659GlnfsTer24) c.7908dup (p.Asn2637GlnfsTer24) c.896-29908dup c.2739dup (p.Asn914GlnfsTer24) c.7782dup (p.Asn2595GlnfsTer24) n.1711dup c.7911dup (p.Asn2638GlnfsTer24) | |
2 | g.73489868A>C | CA347266289 | ALMS1 | c.7528A>C (p.Asn2510His) c.920A>C c.4980A>C c.1975A>C (p.Asn659His) c.7909A>C (p.Asn2637His) c.896-29907A>C c.2740A>C (p.Asn914His) c.7783A>C (p.Asn2595His) n.1712A>C c.7912A>C (p.Asn2638His) | gnomAD v4 |
2 | g.73489868A>G | CA347266291 | ALMS1 | c.7528A>G (p.Asn2510Asp) c.920A>G c.4980A>G c.1975A>G (p.Asn659Asp) c.7909A>G (p.Asn2637Asp) c.896-29907A>G c.2740A>G (p.Asn914Asp) c.7783A>G (p.Asn2595Asp) n.1712A>G c.7912A>G (p.Asn2638Asp) | |
2 | g.73489868A>T | CA347266294 | ALMS1 | c.7528A>T (p.Asn2510Tyr) c.920A>T c.4980A>T c.1975A>T (p.Asn659Tyr) c.7909A>T (p.Asn2637Tyr) c.896-29907A>T c.2740A>T (p.Asn914Tyr) c.7783A>T (p.Asn2595Tyr) n.1712A>T c.7912A>T (p.Asn2638Tyr) | |
2 | g.73489869A>C | CA347266301 | ALMS1 | c.7529A>C (p.Asn2510Thr) c.921A>C c.4981A>C c.1976A>C (p.Asn659Thr) c.7910A>C (p.Asn2637Thr) c.896-29906A>C c.2741A>C (p.Asn914Thr) c.7784A>C (p.Asn2595Thr) n.1713A>C c.7913A>C (p.Asn2638Thr) | |
2 | g.73489869A>G | CA347266300 | ALMS1 | c.7529A>G (p.Asn2510Ser) c.921A>G c.4981A>G c.1976A>G (p.Asn659Ser) c.7910A>G (p.Asn2637Ser) c.896-29906A>G c.2741A>G (p.Asn914Ser) c.7784A>G (p.Asn2595Ser) n.1713A>G c.7913A>G (p.Asn2638Ser) | |
2 | g.73489869A>T | CA347266299 | ALMS1 | c.7529A>T (p.Asn2510Ile) c.921A>T c.4981A>T c.1976A>T (p.Asn659Ile) c.7910A>T (p.Asn2637Ile) c.896-29906A>T c.2741A>T (p.Asn914Ile) c.7784A>T (p.Asn2595Ile) n.1713A>T c.7913A>T (p.Asn2638Ile) | |
2 | g.73489870C>A | CA347266303 | ALMS1 | c.7530C>A (p.Asn2510Lys) c.922C>A c.4982C>A c.1977C>A (p.Asn659Lys) c.7911C>A (p.Asn2637Lys) c.896-29905C>A c.2742C>A (p.Asn914Lys) c.7785C>A (p.Asn2595Lys) n.1714C>A c.7914C>A (p.Asn2638Lys) | |
2 | g.73489870C= | CA1260981202 | ALMS1 | c.7530C= (p.Asn2510=) c.922C= c.4982C= c.1977C= (p.Asn659=) c.7911C= (p.Asn2637=) c.896-29905C= c.2742C= (p.Asn914=) c.7785C= (p.Asn2595=) n.1714C= c.7914C= (p.Asn2638=) | |
2 | g.73489870C>G | CA1714371 | ALMS1 | c.7530C>G (p.Asn2510Lys) c.922C>G c.4982C>G c.1977C>G (p.Asn659Lys) c.7911C>G (p.Asn2637Lys) c.896-29905C>G c.2742C>G (p.Asn914Lys) c.7785C>G (p.Asn2595Lys) n.1714C>G c.7914C>G (p.Asn2638Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489870C>T | CA1714370 | ALMS1 | c.7530C>T (p.Asn2510=) c.922C>T c.4982C>T c.1977C>T (p.Asn659=) c.7911C>T (p.Asn2637=) c.896-29905C>T c.2742C>T (p.Asn914=) c.7785C>T (p.Asn2595=) n.1714C>T c.7914C>T (p.Asn2638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489871T>A | CA1714372 | ALMS1 | c.7531T>A (p.Ser2511Thr) c.923T>A c.4983T>A c.1978T>A (p.Ser660Thr) c.7912T>A (p.Ser2638Thr) c.896-29904T>A c.2743T>A (p.Ser915Thr) c.7786T>A (p.Ser2596Thr) n.1715T>A c.7915T>A (p.Ser2639Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489871T>C | CA347266311 | ALMS1 | c.7531T>C (p.Ser2511Pro) c.923T>C c.4983T>C c.1978T>C (p.Ser660Pro) c.7912T>C (p.Ser2638Pro) c.896-29904T>C c.2743T>C (p.Ser915Pro) c.7786T>C (p.Ser2596Pro) n.1715T>C c.7915T>C (p.Ser2639Pro) | |
2 | g.73489871T>G | CA347266313 | ALMS1 | c.7531T>G (p.Ser2511Ala) c.923T>G c.4983T>G c.1978T>G (p.Ser660Ala) c.7912T>G (p.Ser2638Ala) c.896-29904T>G c.2743T>G (p.Ser915Ala) c.7786T>G (p.Ser2596Ala) n.1715T>G c.7915T>G (p.Ser2639Ala) | |
2 | g.73489871T= | CA1260981203 | ALMS1 | c.7531T= (p.Ser2511=) c.923T= c.4983T= c.1978T= (p.Ser660=) c.7912T= (p.Ser2638=) c.896-29904T= c.2743T= (p.Ser915=) c.7786T= (p.Ser2596=) n.1715T= c.7915T= (p.Ser2639=) | |
2 | g.73489872C>A | CA1714373 | ALMS1 | c.7532C>A (p.Ser2511Tyr) c.924C>A c.4984C>A c.1979C>A (p.Ser660Tyr) c.7913C>A (p.Ser2638Tyr) c.896-29903C>A c.2744C>A (p.Ser915Tyr) c.7787C>A (p.Ser2596Tyr) n.1716C>A c.7916C>A (p.Ser2639Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489872C= | CA1260981204 | ALMS1 | c.7532C= (p.Ser2511=) c.924C= c.4984C= c.1979C= (p.Ser660=) c.7913C= (p.Ser2638=) c.896-29903C= c.2744C= (p.Ser915=) c.7787C= (p.Ser2596=) n.1716C= c.7916C= (p.Ser2639=) | |
2 | g.73489872C>G | CA347266317 | ALMS1 | c.7532C>G (p.Ser2511Cys) c.924C>G c.4984C>G c.1979C>G (p.Ser660Cys) c.7913C>G (p.Ser2638Cys) c.896-29903C>G c.2744C>G (p.Ser915Cys) c.7787C>G (p.Ser2596Cys) n.1716C>G c.7916C>G (p.Ser2639Cys) | |
2 | g.73489872C>T | CA347266320 | ALMS1 | c.7532C>T (p.Ser2511Phe) c.924C>T c.4984C>T c.1979C>T (p.Ser660Phe) c.7913C>T (p.Ser2638Phe) c.896-29903C>T c.2744C>T (p.Ser915Phe) c.7787C>T (p.Ser2596Phe) n.1716C>T c.7916C>T (p.Ser2639Phe) | |
2 | g.73489873C>A | CA427000685 | ALMS1 | c.7533C>A (p.Ser2511=) c.925C>A c.4985C>A c.1980C>A (p.Ser660=) c.7914C>A (p.Ser2638=) c.896-29902C>A c.2745C>A (p.Ser915=) c.7788C>A (p.Ser2596=) n.1717C>A c.7917C>A (p.Ser2639=) | |
2 | g.73489873C>G | CA427000683 | ALMS1 | c.7533C>G (p.Ser2511=) c.925C>G c.4985C>G c.1980C>G (p.Ser660=) c.7914C>G (p.Ser2638=) c.896-29902C>G c.2745C>G (p.Ser915=) c.7788C>G (p.Ser2596=) n.1717C>G c.7917C>G (p.Ser2639=) | |
2 | g.73489873C>T | CA427000684 | ALMS1 | c.7533C>T (p.Ser2511=) c.925C>T c.4985C>T c.1980C>T (p.Ser660=) c.7914C>T (p.Ser2638=) c.896-29902C>T c.2745C>T (p.Ser915=) c.7788C>T (p.Ser2596=) n.1717C>T c.7917C>T (p.Ser2639=) | gnomAD v4 |
2 | g.73489874C>A | CA347266323 | ALMS1 | c.7534C>A (p.His2512Asn) c.926C>A c.4986C>A c.1981C>A (p.His661Asn) c.7915C>A (p.His2639Asn) c.896-29901C>A c.2746C>A (p.His916Asn) c.7789C>A (p.His2597Asn) n.1718C>A c.7918C>A (p.His2640Asn) | |
2 | g.73489874C>G | CA347266327 | ALMS1 | c.7534C>G (p.His2512Asp) c.926C>G c.4986C>G c.1981C>G (p.His661Asp) c.7915C>G (p.His2639Asp) c.896-29901C>G c.2746C>G (p.His916Asp) c.7789C>G (p.His2597Asp) n.1718C>G c.7918C>G (p.His2640Asp) | |
2 | g.73489874C>T | CA347266330 | ALMS1 | c.7534C>T (p.His2512Tyr) c.926C>T c.4986C>T c.1981C>T (p.His661Tyr) c.7915C>T (p.His2639Tyr) c.896-29901C>T c.2746C>T (p.His916Tyr) c.7789C>T (p.His2597Tyr) n.1718C>T c.7918C>T (p.His2640Tyr) | |
2 | g.73489875A>C | CA347266339 | ALMS1 | c.7535A>C (p.His2512Pro) c.927A>C c.4987A>C c.1982A>C (p.His661Pro) c.7916A>C (p.His2639Pro) c.896-29900A>C c.2747A>C (p.His916Pro) c.7790A>C (p.His2597Pro) n.1719A>C c.7919A>C (p.His2640Pro) | |
2 | g.73489875A>G | CA347266336 | ALMS1 | c.7535A>G (p.His2512Arg) c.927A>G c.4987A>G c.1982A>G (p.His661Arg) c.7916A>G (p.His2639Arg) c.896-29900A>G c.2747A>G (p.His916Arg) c.7790A>G (p.His2597Arg) n.1719A>G c.7919A>G (p.His2640Arg) | gnomAD v4 |
2 | g.73489875A>T | CA347266334 | ALMS1 | c.7535A>T (p.His2512Leu) c.927A>T c.4987A>T c.1982A>T (p.His661Leu) c.7916A>T (p.His2639Leu) c.896-29900A>T c.2747A>T (p.His916Leu) c.7790A>T (p.His2597Leu) n.1719A>T c.7919A>T (p.His2640Leu) | |
2 | g.73489876T>A | CA347266341 | ALMS1 | c.7536T>A (p.His2512Gln) c.928T>A c.4988T>A c.1983T>A (p.His661Gln) c.7917T>A (p.His2639Gln) c.896-29899T>A c.2748T>A (p.His916Gln) c.7791T>A (p.His2597Gln) n.1720T>A c.7920T>A (p.His2640Gln) | |
2 | g.73489876T>C | CA427000686 | ALMS1 | c.7536T>C (p.His2512=) c.928T>C c.4988T>C c.1983T>C (p.His661=) c.7917T>C (p.His2639=) c.896-29899T>C c.2748T>C (p.His916=) c.7791T>C (p.His2597=) n.1720T>C c.7920T>C (p.His2640=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489876T>G | CA347266343 | ALMS1 | c.7536T>G (p.His2512Gln) c.928T>G c.4988T>G c.1983T>G (p.His661Gln) c.7917T>G (p.His2639Gln) c.896-29899T>G c.2748T>G (p.His916Gln) c.7791T>G (p.His2597Gln) n.1720T>G c.7920T>G (p.His2640Gln) | |
2 | g.73489876T= | CA1260981205 | ALMS1 | c.7536T= (p.His2512=) c.928T= c.4988T= c.1983T= (p.His661=) c.7917T= (p.His2639=) c.896-29899T= c.2748T= (p.His916=) c.7791T= (p.His2597=) n.1720T= c.7920T= (p.His2640=) | |
2 | g.73489877T>A | CA347266346 | ALMS1 | c.7537T>A (p.Phe2513Ile) c.929T>A c.4989T>A c.1984T>A (p.Phe662Ile) c.7918T>A (p.Phe2640Ile) c.896-29898T>A c.2749T>A (p.Phe917Ile) c.7792T>A (p.Phe2598Ile) n.1721T>A c.7921T>A (p.Phe2641Ile) | |
2 | g.73489877T>C | CA347266349 | ALMS1 | c.7537T>C (p.Phe2513Leu) c.929T>C c.4989T>C c.1984T>C (p.Phe662Leu) c.7918T>C (p.Phe2640Leu) c.896-29898T>C c.2749T>C (p.Phe917Leu) c.7792T>C (p.Phe2598Leu) n.1721T>C c.7921T>C (p.Phe2641Leu) | |
2 | g.73489877T>G | CA347266352 | ALMS1 | c.7537T>G (p.Phe2513Val) c.929T>G c.4989T>G c.1984T>G (p.Phe662Val) c.7918T>G (p.Phe2640Val) c.896-29898T>G c.2749T>G (p.Phe917Val) c.7792T>G (p.Phe2598Val) n.1721T>G c.7921T>G (p.Phe2641Val) | |
2 | g.73489878T>A | CA347266354 | ALMS1 | c.7538T>A (p.Phe2513Tyr) c.930T>A c.4990T>A c.1985T>A (p.Phe662Tyr) c.7919T>A (p.Phe2640Tyr) c.896-29897T>A c.2750T>A (p.Phe917Tyr) c.7793T>A (p.Phe2598Tyr) n.1722T>A c.7922T>A (p.Phe2641Tyr) | |
2 | g.73489878T>C | CA347266356 | ALMS1 | c.7538T>C (p.Phe2513Ser) c.930T>C c.4990T>C c.1985T>C (p.Phe662Ser) c.7919T>C (p.Phe2640Ser) c.896-29897T>C c.2750T>C (p.Phe917Ser) c.7793T>C (p.Phe2598Ser) n.1722T>C c.7922T>C (p.Phe2641Ser) | |
2 | g.73489878T>G | CA347266358 | ALMS1 | c.7538T>G (p.Phe2513Cys) c.930T>G c.4990T>G c.1985T>G (p.Phe662Cys) c.7919T>G (p.Phe2640Cys) c.896-29897T>G c.2750T>G (p.Phe917Cys) c.7793T>G (p.Phe2598Cys) n.1722T>G c.7922T>G (p.Phe2641Cys) |