Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73490006_73490013dup | CA2577005007 | ALMS1 | c.7666_7673dup (p.Glu2558AspfsTer2) c.1058_1065dup c.5118_5125dup c.2113_2120dup (p.Glu707AspfsTer2) c.8047_8054dup (p.Glu2685AspfsTer2) c.896-29769_896-29762dup c.2878_2885dup (p.Glu962AspfsTer2) c.7921_7928dup (p.Glu2643AspfsTer2) n.1850_1857dup c.8050_8057dup (p.Glu2686AspfsTer2) | |
2 | g.73490010_73490012del | CA2845022176 | ALMS1 | c.7670_7672del (p.Val2557del) c.1062_1064del c.5122_5124del c.2117_2119del (p.Val706del) c.8051_8053del (p.Val2684del) c.896-29765_896-29763del c.2882_2884del (p.Val961del) c.7925_7927del (p.Val2642del) n.1854_1856del c.8054_8056del (p.Val2685del) | |
2 | g.73490009G>A | CA347267146 | ALMS1 | c.7669G>A (p.Val2557Ile) c.1061G>A c.5121G>A c.2116G>A (p.Val706Ile) c.8050G>A (p.Val2684Ile) c.896-29766G>A c.2881G>A (p.Val961Ile) c.7924G>A (p.Val2642Ile) n.1853G>A c.8053G>A (p.Val2685Ile) | dbSNP |
2 | g.73490009G>C | CA347267142 | ALMS1 | c.7669G>C (p.Val2557Leu) c.1061G>C c.5121G>C c.2116G>C (p.Val706Leu) c.8050G>C (p.Val2684Leu) c.896-29766G>C c.2881G>C (p.Val961Leu) c.7924G>C (p.Val2642Leu) n.1853G>C c.8053G>C (p.Val2685Leu) | |
2 | g.73490009G= | CA1260981278 | ALMS1 | c.7669G= (p.Val2557=) c.1061G= c.5121G= c.2116G= (p.Val706=) c.8050G= (p.Val2684=) c.896-29766G= c.2881G= (p.Val961=) c.7924G= (p.Val2642=) n.1853G= c.8053G= (p.Val2685=) | |
2 | g.73490009G>T | CA347267143 | ALMS1 | c.7669G>T (p.Val2557Leu) c.1061G>T c.5121G>T c.2116G>T (p.Val706Leu) c.8050G>T (p.Val2684Leu) c.896-29766G>T c.2881G>T (p.Val961Leu) c.7924G>T (p.Val2642Leu) n.1853G>T c.8053G>T (p.Val2685Leu) | |
2 | g.73490010T>A | CA347267148 | ALMS1 | c.7670T>A (p.Val2557Glu) c.1062T>A c.5122T>A c.2117T>A (p.Val706Glu) c.8051T>A (p.Val2684Glu) c.896-29765T>A c.2882T>A (p.Val961Glu) c.7925T>A (p.Val2642Glu) n.1854T>A c.8054T>A (p.Val2685Glu) | |
2 | g.73490010T>C | CA347267150 | ALMS1 | c.7670T>C (p.Val2557Ala) c.1062T>C c.5122T>C c.2117T>C (p.Val706Ala) c.8051T>C (p.Val2684Ala) c.896-29765T>C c.2882T>C (p.Val961Ala) c.7925T>C (p.Val2642Ala) n.1854T>C c.8054T>C (p.Val2685Ala) | |
2 | g.73490010T>G | CA347267154 | ALMS1 | c.7670T>G (p.Val2557Gly) c.1062T>G c.5122T>G c.2117T>G (p.Val706Gly) c.8051T>G (p.Val2684Gly) c.896-29765T>G c.2882T>G (p.Val961Gly) c.7925T>G (p.Val2642Gly) n.1854T>G c.8054T>G (p.Val2685Gly) | |
2 | g.73490011A>C | CA427000755 | ALMS1 | c.7671A>C (p.Val2557=) c.1063A>C c.5123A>C c.2118A>C (p.Val706=) c.8052A>C (p.Val2684=) c.896-29764A>C c.2883A>C (p.Val961=) c.7926A>C (p.Val2642=) n.1855A>C c.8055A>C (p.Val2685=) | |
2 | g.73490011A>G | CA427000756 | ALMS1 | c.7671A>G (p.Val2557=) c.1063A>G c.5123A>G c.2118A>G (p.Val706=) c.8052A>G (p.Val2684=) c.896-29764A>G c.2883A>G (p.Val961=) c.7926A>G (p.Val2642=) n.1855A>G c.8055A>G (p.Val2685=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490011A>T | CA427000757 | ALMS1 | c.7671A>T (p.Val2557=) c.1063A>T c.5123A>T c.2118A>T (p.Val706=) c.8052A>T (p.Val2684=) c.896-29764A>T c.2883A>T (p.Val961=) c.7926A>T (p.Val2642=) n.1855A>T c.8055A>T (p.Val2685=) | |
2 | g.73490012G>A | CA347267157 | ALMS1 | c.7672G>A (p.Glu2558Lys) c.1064G>A c.5124G>A c.2119G>A (p.Glu707Lys) c.8053G>A (p.Glu2685Lys) c.896-29763G>A c.2884G>A (p.Glu962Lys) c.7927G>A (p.Glu2643Lys) n.1856G>A c.8056G>A (p.Glu2686Lys) | gnomAD v4 |
2 | g.73490012G>C | CA347267159 | ALMS1 | c.7672G>C (p.Glu2558Gln) c.1064G>C c.5124G>C c.2119G>C (p.Glu707Gln) c.8053G>C (p.Glu2685Gln) c.896-29763G>C c.2884G>C (p.Glu962Gln) c.7927G>C (p.Glu2643Gln) n.1856G>C c.8056G>C (p.Glu2686Gln) | |
2 | g.73490012G>T | CA347267162 | ALMS1 | c.7672G>T (p.Glu2558Ter) c.1064G>T c.5124G>T c.2119G>T (p.Glu707Ter) c.8053G>T (p.Glu2685Ter) c.896-29763G>T c.2884G>T (p.Glu962Ter) c.7927G>T (p.Glu2643Ter) n.1856G>T c.8056G>T (p.Glu2686Ter) | |
2 | g.73490013A>C | CA347267165 | ALMS1 | c.7673A>C (p.Glu2558Ala) c.1065A>C c.5125A>C c.2120A>C (p.Glu707Ala) c.8054A>C (p.Glu2685Ala) c.896-29762A>C c.2885A>C (p.Glu962Ala) c.7928A>C (p.Glu2643Ala) n.1857A>C c.8057A>C (p.Glu2686Ala) | |
2 | g.73490013A>G | CA347267169 | ALMS1 | c.7673A>G (p.Glu2558Gly) c.1065A>G c.5125A>G c.2120A>G (p.Glu707Gly) c.8054A>G (p.Glu2685Gly) c.896-29762A>G c.2885A>G (p.Glu962Gly) c.7928A>G (p.Glu2643Gly) n.1857A>G c.8057A>G (p.Glu2686Gly) | |
2 | g.73490013A>T | CA347267171 | ALMS1 | c.7673A>T (p.Glu2558Val) c.1065A>T c.5125A>T c.2120A>T (p.Glu707Val) c.8054A>T (p.Glu2685Val) c.896-29762A>T c.2885A>T (p.Glu962Val) c.7928A>T (p.Glu2643Val) n.1857A>T c.8057A>T (p.Glu2686Val) | |
2 | g.73490014A>C | CA347267174 | ALMS1 | c.7674A>C (p.Glu2558Asp) c.1066A>C c.5126A>C c.2121A>C (p.Glu707Asp) c.8055A>C (p.Glu2685Asp) c.896-29761A>C c.2886A>C (p.Glu962Asp) c.7929A>C (p.Glu2643Asp) n.1858A>C c.8058A>C (p.Glu2686Asp) | |
2 | g.73490014A>G | CA427000758 | ALMS1 | c.7674A>G (p.Glu2558=) c.1066A>G c.5126A>G c.2121A>G (p.Glu707=) c.8055A>G (p.Glu2685=) c.896-29761A>G c.2886A>G (p.Glu962=) c.7929A>G (p.Glu2643=) n.1858A>G c.8058A>G (p.Glu2686=) | |
2 | g.73490014A>T | CA347267176 | ALMS1 | c.7674A>T (p.Glu2558Asp) c.1066A>T c.5126A>T c.2121A>T (p.Glu707Asp) c.8055A>T (p.Glu2685Asp) c.896-29761A>T c.2886A>T (p.Glu962Asp) c.7929A>T (p.Glu2643Asp) n.1858A>T c.8058A>T (p.Glu2686Asp) | gnomAD v4 |
2 | g.73490015C>A | CA347267178 | ALMS1 | c.7675C>A (p.Pro2559Thr) c.1067C>A c.5127C>A c.2122C>A (p.Pro708Thr) c.8056C>A (p.Pro2686Thr) c.896-29760C>A c.2887C>A (p.Pro963Thr) c.7930C>A (p.Pro2644Thr) n.1859C>A c.8059C>A (p.Pro2687Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490015C= | CA1260981281 | ALMS1 | c.7675C= (p.Pro2559=) c.1067C= c.5127C= c.2122C= (p.Pro708=) c.8056C= (p.Pro2686=) c.896-29760C= c.2887C= (p.Pro963=) c.7930C= (p.Pro2644=) n.1859C= c.8059C= (p.Pro2687=) | |
2 | g.73490015C>G | CA347267183 | ALMS1 | c.7675C>G (p.Pro2559Ala) c.1067C>G c.5127C>G c.2122C>G (p.Pro708Ala) c.8056C>G (p.Pro2686Ala) c.896-29760C>G c.2887C>G (p.Pro963Ala) c.7930C>G (p.Pro2644Ala) n.1859C>G c.8059C>G (p.Pro2687Ala) | dbSNP |
2 | g.73490015C>T | CA347267181 | ALMS1 | c.7675C>T (p.Pro2559Ser) c.1067C>T c.5127C>T c.2122C>T (p.Pro708Ser) c.8056C>T (p.Pro2686Ser) c.896-29760C>T c.2887C>T (p.Pro963Ser) c.7930C>T (p.Pro2644Ser) n.1859C>T c.8059C>T (p.Pro2687Ser) | gnomAD v4 |
2 | g.73490016C>A | CA347267186 | ALMS1 | c.7676C>A (p.Pro2559His) c.1068C>A c.5128C>A c.2123C>A (p.Pro708His) c.8057C>A (p.Pro2686His) c.896-29759C>A c.2888C>A (p.Pro963His) c.7931C>A (p.Pro2644His) n.1860C>A c.8060C>A (p.Pro2687His) | |
2 | g.73490016C= | CA1260981284 | ALMS1 | c.7676C= (p.Pro2559=) c.1068C= c.5128C= c.2123C= (p.Pro708=) c.8057C= (p.Pro2686=) c.896-29759C= c.2888C= (p.Pro963=) c.7931C= (p.Pro2644=) n.1860C= c.8060C= (p.Pro2687=) | |
2 | g.73490016C>G | CA347267191 | ALMS1 | c.7676C>G (p.Pro2559Arg) c.1068C>G c.5128C>G c.2123C>G (p.Pro708Arg) c.8057C>G (p.Pro2686Arg) c.896-29759C>G c.2888C>G (p.Pro963Arg) c.7931C>G (p.Pro2644Arg) n.1860C>G c.8060C>G (p.Pro2687Arg) | |
2 | g.73490016C>T | CA347267187 | ALMS1 | c.7676C>T (p.Pro2559Leu) c.1068C>T c.5128C>T c.2123C>T (p.Pro708Leu) c.8057C>T (p.Pro2686Leu) c.896-29759C>T c.2888C>T (p.Pro963Leu) c.7931C>T (p.Pro2644Leu) n.1860C>T c.8060C>T (p.Pro2687Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490017T>A | CA427000759 | ALMS1 | c.7677T>A (p.Pro2559=) c.1069T>A c.5129T>A c.2124T>A (p.Pro708=) c.8058T>A (p.Pro2686=) c.896-29758T>A c.2889T>A (p.Pro963=) c.7932T>A (p.Pro2644=) n.1861T>A c.8061T>A (p.Pro2687=) | |
2 | g.73490017T>C | CA427000760 | ALMS1 | c.7677T>C (p.Pro2559=) c.1069T>C c.5129T>C c.2124T>C (p.Pro708=) c.8058T>C (p.Pro2686=) c.896-29758T>C c.2889T>C (p.Pro963=) c.7932T>C (p.Pro2644=) n.1861T>C c.8061T>C (p.Pro2687=) | |
2 | g.73490017T>G | CA427000761 | ALMS1 | c.7677T>G (p.Pro2559=) c.1069T>G c.5129T>G c.2124T>G (p.Pro708=) c.8058T>G (p.Pro2686=) c.896-29758T>G c.2889T>G (p.Pro963=) c.7932T>G (p.Pro2644=) n.1861T>G c.8061T>G (p.Pro2687=) | |
2 | g.73490018G>A | CA50377934 | ALMS1 | c.7678G>A (p.Ala2560Thr) c.1070G>A c.5130G>A c.2125G>A (p.Ala709Thr) c.8059G>A (p.Ala2687Thr) c.896-29757G>A c.2890G>A (p.Ala964Thr) c.7933G>A (p.Ala2645Thr) n.1862G>A c.8062G>A (p.Ala2688Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490018G>C | CA347267195 | ALMS1 | c.7678G>C (p.Ala2560Pro) c.1070G>C c.5130G>C c.2125G>C (p.Ala709Pro) c.8059G>C (p.Ala2687Pro) c.896-29757G>C c.2890G>C (p.Ala964Pro) c.7933G>C (p.Ala2645Pro) n.1862G>C c.8062G>C (p.Ala2688Pro) | |
2 | g.73490018G= | CA1260981287 | ALMS1 | c.7678G= (p.Ala2560=) c.1070G= c.5130G= c.2125G= (p.Ala709=) c.8059G= (p.Ala2687=) c.896-29757G= c.2890G= (p.Ala964=) c.7933G= (p.Ala2645=) n.1862G= c.8062G= (p.Ala2688=) | |
2 | g.73490018G>T | CA347267197 | ALMS1 | c.7678G>T (p.Ala2560Ser) c.1070G>T c.5130G>T c.2125G>T (p.Ala709Ser) c.8059G>T (p.Ala2687Ser) c.896-29757G>T c.2890G>T (p.Ala964Ser) c.7933G>T (p.Ala2645Ser) n.1862G>T c.8062G>T (p.Ala2688Ser) | gnomAD v4 |
2 | g.73490019C>A | CA347267201 | ALMS1 | c.7679C>A (p.Ala2560Asp) c.1071C>A c.5131C>A c.2126C>A (p.Ala709Asp) c.8060C>A (p.Ala2687Asp) c.896-29756C>A c.2891C>A (p.Ala964Asp) c.7934C>A (p.Ala2645Asp) n.1863C>A c.8063C>A (p.Ala2688Asp) | |
2 | g.73490019C>G | CA347267207 | ALMS1 | c.7679C>G (p.Ala2560Gly) c.1071C>G c.5131C>G c.2126C>G (p.Ala709Gly) c.8060C>G (p.Ala2687Gly) c.896-29756C>G c.2891C>G (p.Ala964Gly) c.7934C>G (p.Ala2645Gly) n.1863C>G c.8063C>G (p.Ala2688Gly) | |
2 | g.73490019C>T | CA347267209 | ALMS1 | c.7679C>T (p.Ala2560Val) c.1071C>T c.5131C>T c.2126C>T (p.Ala709Val) c.8060C>T (p.Ala2687Val) c.896-29756C>T c.2891C>T (p.Ala964Val) c.7934C>T (p.Ala2645Val) n.1863C>T c.8063C>T (p.Ala2688Val) | gnomAD v4 |
2 | g.73490020T>A | CA427000762 | ALMS1 | c.7680T>A (p.Ala2560=) c.1072T>A c.5132T>A c.2127T>A (p.Ala709=) c.8061T>A (p.Ala2687=) c.896-29755T>A c.2892T>A (p.Ala964=) c.7935T>A (p.Ala2645=) n.1864T>A c.8064T>A (p.Ala2688=) | ClinVar |
2 | g.73490020T>C | CA427000763 | ALMS1 | c.7680T>C (p.Ala2560=) c.1072T>C c.5132T>C c.2127T>C (p.Ala709=) c.8061T>C (p.Ala2687=) c.896-29755T>C c.2892T>C (p.Ala964=) c.7935T>C (p.Ala2645=) n.1864T>C c.8064T>C (p.Ala2688=) | |
2 | g.73490020T>G | CA427000764 | ALMS1 | c.7680T>G (p.Ala2560=) c.1072T>G c.5132T>G c.2127T>G (p.Ala709=) c.8061T>G (p.Ala2687=) c.896-29755T>G c.2892T>G (p.Ala964=) c.7935T>G (p.Ala2645=) n.1864T>G c.8064T>G (p.Ala2688=) | |
2 | g.73490021T>A | CA347267226 | ALMS1 | c.7681T>A (p.Phe2561Ile) c.1073T>A c.5133T>A c.2128T>A (p.Phe710Ile) c.8062T>A (p.Phe2688Ile) c.896-29754T>A c.2893T>A (p.Phe965Ile) c.7936T>A (p.Phe2646Ile) n.1865T>A c.8065T>A (p.Phe2689Ile) | |
2 | g.73490021T>C | CA347267215 | ALMS1 | c.7681T>C (p.Phe2561Leu) c.1073T>C c.5133T>C c.2128T>C (p.Phe710Leu) c.8062T>C (p.Phe2688Leu) c.896-29754T>C c.2893T>C (p.Phe965Leu) c.7936T>C (p.Phe2646Leu) n.1865T>C c.8065T>C (p.Phe2689Leu) | |
2 | g.73490021T>G | CA347267223 | ALMS1 | c.7681T>G (p.Phe2561Val) c.1073T>G c.5133T>G c.2128T>G (p.Phe710Val) c.8062T>G (p.Phe2688Val) c.896-29754T>G c.2893T>G (p.Phe965Val) c.7936T>G (p.Phe2646Val) n.1865T>G c.8065T>G (p.Phe2689Val) | |
2 | g.73490022T>A | CA347267229 | ALMS1 | c.7682T>A (p.Phe2561Tyr) c.1074T>A c.5134T>A c.2129T>A (p.Phe710Tyr) c.8063T>A (p.Phe2688Tyr) c.896-29753T>A c.2894T>A (p.Phe965Tyr) c.7937T>A (p.Phe2646Tyr) n.1866T>A c.8066T>A (p.Phe2689Tyr) | |
2 | g.73490022T>C | CA347267233 | ALMS1 | c.7682T>C (p.Phe2561Ser) c.1074T>C c.5134T>C c.2129T>C (p.Phe710Ser) c.8063T>C (p.Phe2688Ser) c.896-29753T>C c.2894T>C (p.Phe965Ser) c.7937T>C (p.Phe2646Ser) n.1866T>C c.8066T>C (p.Phe2689Ser) | gnomAD v4 |
2 | g.73490022T>G | CA347267238 | ALMS1 | c.7682T>G (p.Phe2561Cys) c.1074T>G c.5134T>G c.2129T>G (p.Phe710Cys) c.8063T>G (p.Phe2688Cys) c.896-29753T>G c.2894T>G (p.Phe965Cys) c.7937T>G (p.Phe2646Cys) n.1866T>G c.8066T>G (p.Phe2689Cys) | |
2 | g.73490023T>A | CA347267242 | ALMS1 | c.7683T>A (p.Phe2561Leu) c.1075T>A c.5135T>A c.2130T>A (p.Phe710Leu) c.8064T>A (p.Phe2688Leu) c.896-29752T>A c.2895T>A (p.Phe965Leu) c.7938T>A (p.Phe2646Leu) n.1867T>A c.8067T>A (p.Phe2689Leu) | |
2 | g.73490023T>C | CA427000765 | ALMS1 | c.7683T>C (p.Phe2561=) c.1075T>C c.5135T>C c.2130T>C (p.Phe710=) c.8064T>C (p.Phe2688=) c.896-29752T>C c.2895T>C (p.Phe965=) c.7938T>C (p.Phe2646=) n.1867T>C c.8067T>C (p.Phe2689=) | |
2 | g.73490023T>G | CA347267243 | ALMS1 | c.7683T>G (p.Phe2561Leu) c.1075T>G c.5135T>G c.2130T>G (p.Phe710Leu) c.8064T>G (p.Phe2688Leu) c.896-29752T>G c.2895T>G (p.Phe965Leu) c.7938T>G (p.Phe2646Leu) n.1867T>G c.8067T>G (p.Phe2689Leu) | |
2 | g.73490024G>A | CA347267251 | ALMS1 | c.7684G>A (p.Val2562Met) c.1076G>A c.5136G>A c.2131G>A (p.Val711Met) c.8065G>A (p.Val2689Met) c.896-29751G>A c.2896G>A (p.Val966Met) c.7939G>A (p.Val2647Met) n.1868G>A c.8068G>A (p.Val2690Met) | dbSNP gnomAD v4 |
2 | g.73490024G>C | CA347267247 | ALMS1 | c.7684G>C (p.Val2562Leu) c.1076G>C c.5136G>C c.2131G>C (p.Val711Leu) c.8065G>C (p.Val2689Leu) c.896-29751G>C c.2896G>C (p.Val966Leu) c.7939G>C (p.Val2647Leu) n.1868G>C c.8068G>C (p.Val2690Leu) | |
2 | g.73490024G= | CA1260981291 | ALMS1 | c.7684G= (p.Val2562=) c.1076G= c.5136G= c.2131G= (p.Val711=) c.8065G= (p.Val2689=) c.896-29751G= c.2896G= (p.Val966=) c.7939G= (p.Val2647=) n.1868G= c.8068G= (p.Val2690=) | |
2 | g.73490024G>T | CA347267249 | ALMS1 | c.7684G>T (p.Val2562Leu) c.1076G>T c.5136G>T c.2131G>T (p.Val711Leu) c.8065G>T (p.Val2689Leu) c.896-29751G>T c.2896G>T (p.Val966Leu) c.7939G>T (p.Val2647Leu) n.1868G>T c.8068G>T (p.Val2690Leu) | dbSNP |
2 | g.73490025T>A | CA347267259 | ALMS1 | c.7685T>A (p.Val2562Glu) c.1077T>A c.5137T>A c.2132T>A (p.Val711Glu) c.8066T>A (p.Val2689Glu) c.896-29750T>A c.2897T>A (p.Val966Glu) c.7940T>A (p.Val2647Glu) n.1869T>A c.8069T>A (p.Val2690Glu) | |
2 | g.73490025T>C | CA347267263 | ALMS1 | c.7685T>C (p.Val2562Ala) c.1077T>C c.5137T>C c.2132T>C (p.Val711Ala) c.8066T>C (p.Val2689Ala) c.896-29750T>C c.2897T>C (p.Val966Ala) c.7940T>C (p.Val2647Ala) n.1869T>C c.8069T>C (p.Val2690Ala) | gnomAD v4 |
2 | g.73490025T>G | CA347267265 | ALMS1 | c.7685T>G (p.Val2562Gly) c.1077T>G c.5137T>G c.2132T>G (p.Val711Gly) c.8066T>G (p.Val2689Gly) c.896-29750T>G c.2897T>G (p.Val966Gly) c.7940T>G (p.Val2647Gly) n.1869T>G c.8069T>G (p.Val2690Gly) | |
2 | g.73490026G>A | CA427000766 | ALMS1 | c.7686G>A (p.Val2562=) c.1078G>A c.5138G>A c.2133G>A (p.Val711=) c.8067G>A (p.Val2689=) c.896-29749G>A c.2898G>A (p.Val966=) c.7941G>A (p.Val2647=) n.1870G>A c.8070G>A (p.Val2690=) | |
2 | g.73490026G>C | CA427000767 | ALMS1 | c.7686G>C (p.Val2562=) c.1078G>C c.5138G>C c.2133G>C (p.Val711=) c.8067G>C (p.Val2689=) c.896-29749G>C c.2898G>C (p.Val966=) c.7941G>C (p.Val2647=) n.1870G>C c.8070G>C (p.Val2690=) | |
2 | g.73490026G>T | CA427000768 | ALMS1 | c.7686G>T (p.Val2562=) c.1078G>T c.5138G>T c.2133G>T (p.Val711=) c.8067G>T (p.Val2689=) c.896-29749G>T c.2898G>T (p.Val966=) c.7941G>T (p.Val2647=) n.1870G>T c.8070G>T (p.Val2690=) | |
2 | g.73490027C>A | CA347267267 | ALMS1 | c.7687C>A (p.Pro2563Thr) c.1079C>A c.5139C>A c.2134C>A (p.Pro712Thr) c.8068C>A (p.Pro2690Thr) c.896-29748C>A c.2899C>A (p.Pro967Thr) c.7942C>A (p.Pro2648Thr) n.1871C>A c.8071C>A (p.Pro2691Thr) | |
2 | g.73490027C= | CA1260981296 | ALMS1 | c.7687C= (p.Pro2563=) c.1079C= c.5139C= c.2134C= (p.Pro712=) c.8068C= (p.Pro2690=) c.896-29748C= c.2899C= (p.Pro967=) c.7942C= (p.Pro2648=) n.1871C= c.8071C= (p.Pro2691=) | |
2 | g.73490027C>G | CA347267269 | ALMS1 | c.7687C>G (p.Pro2563Ala) c.1079C>G c.5139C>G c.2134C>G (p.Pro712Ala) c.8068C>G (p.Pro2690Ala) c.896-29748C>G c.2899C>G (p.Pro967Ala) c.7942C>G (p.Pro2648Ala) n.1871C>G c.8071C>G (p.Pro2691Ala) | ClinVar |
2 | g.73490027C>T | CA50377959 | ALMS1 | c.7687C>T (p.Pro2563Ser) c.1079C>T c.5139C>T c.2134C>T (p.Pro712Ser) c.8068C>T (p.Pro2690Ser) c.896-29748C>T c.2899C>T (p.Pro967Ser) c.7942C>T (p.Pro2648Ser) n.1871C>T c.8071C>T (p.Pro2691Ser) | dbSNP gnomAD v4 |
2 | g.73490028C>A | CA347267273 | ALMS1 | c.7688C>A (p.Pro2563Gln) c.1080C>A c.5140C>A c.2135C>A (p.Pro712Gln) c.8069C>A (p.Pro2690Gln) c.896-29747C>A c.2900C>A (p.Pro967Gln) c.7943C>A (p.Pro2648Gln) n.1872C>A c.8072C>A (p.Pro2691Gln) | |
2 | g.73490028C= | CA1260981300 | ALMS1 | c.7688C= (p.Pro2563=) c.1080C= c.5140C= c.2135C= (p.Pro712=) c.8069C= (p.Pro2690=) c.896-29747C= c.2900C= (p.Pro967=) c.7943C= (p.Pro2648=) n.1872C= c.8072C= (p.Pro2691=) | |
2 | g.73490028C>G | CA347267277 | ALMS1 | c.7688C>G (p.Pro2563Arg) c.1080C>G c.5140C>G c.2135C>G (p.Pro712Arg) c.8069C>G (p.Pro2690Arg) c.896-29747C>G c.2900C>G (p.Pro967Arg) c.7943C>G (p.Pro2648Arg) n.1872C>G c.8072C>G (p.Pro2691Arg) | |
2 | g.73490028C>T | CA347267279 | ALMS1 | c.7688C>T (p.Pro2563Leu) c.1080C>T c.5140C>T c.2135C>T (p.Pro712Leu) c.8069C>T (p.Pro2690Leu) c.896-29747C>T c.2900C>T (p.Pro967Leu) c.7943C>T (p.Pro2648Leu) n.1872C>T c.8072C>T (p.Pro2691Leu) | |
2 | g.73490029A>C | CA427000769 | ALMS1 | c.7689A>C (p.Pro2563=) c.1081A>C c.5141A>C c.2136A>C (p.Pro712=) c.8070A>C (p.Pro2690=) c.896-29746A>C c.2901A>C (p.Pro967=) c.7944A>C (p.Pro2648=) n.1873A>C c.8073A>C (p.Pro2691=) | |
2 | g.73490029A>G | CA427000770 | ALMS1 | c.7689A>G (p.Pro2563=) c.1081A>G c.5141A>G c.2136A>G (p.Pro712=) c.8070A>G (p.Pro2690=) c.896-29746A>G c.2901A>G (p.Pro967=) c.7944A>G (p.Pro2648=) n.1873A>G c.8073A>G (p.Pro2691=) | ClinVar gnomAD v4 |
2 | g.73490029A>T | CA427000771 | ALMS1 | c.7689A>T (p.Pro2563=) c.1081A>T c.5141A>T c.2136A>T (p.Pro712=) c.8070A>T (p.Pro2690=) c.896-29746A>T c.2901A>T (p.Pro967=) c.7944A>T (p.Pro2648=) n.1873A>T c.8073A>T (p.Pro2691=) | gnomAD v4 |
2 | g.73490029dup | CA1260981302 | ALMS1 | c.7689dup (p.Pro2564ThrfsTer2) c.1081dup c.5141dup c.2136dup (p.Pro713ThrfsTer2) c.8070dup (p.Pro2691ThrfsTer2) c.896-29746dup c.2901dup (p.Pro968ThrfsTer2) c.7944dup (p.Pro2649ThrfsTer2) n.1873dup c.8073dup (p.Pro2692ThrfsTer2) | dbSNP |
2 | g.73490030C>A | CA347267284 | ALMS1 | c.7690C>A (p.Pro2564Thr) c.1082C>A c.5142C>A c.2137C>A (p.Pro713Thr) c.8071C>A (p.Pro2691Thr) c.896-29745C>A c.2902C>A (p.Pro968Thr) c.7945C>A (p.Pro2649Thr) n.1874C>A c.8074C>A (p.Pro2692Thr) | |
2 | g.73490030C>G | CA347267289 | ALMS1 | c.7690C>G (p.Pro2564Ala) c.1082C>G c.5142C>G c.2137C>G (p.Pro713Ala) c.8071C>G (p.Pro2691Ala) c.896-29745C>G c.2902C>G (p.Pro968Ala) c.7945C>G (p.Pro2649Ala) n.1874C>G c.8074C>G (p.Pro2692Ala) | |
2 | g.73490030C>T | CA347267294 | ALMS1 | c.7690C>T (p.Pro2564Ser) c.1082C>T c.5142C>T c.2137C>T (p.Pro713Ser) c.8071C>T (p.Pro2691Ser) c.896-29745C>T c.2902C>T (p.Pro968Ser) c.7945C>T (p.Pro2649Ser) n.1874C>T c.8074C>T (p.Pro2692Ser) | |
2 | g.73490031del | CA2577005008 | ALMS1 | c.7691del (p.Pro2564LeufsTer18) c.1083del c.5143del c.2138del (p.Pro713LeufsTer18) c.8072del (p.Pro2691LeufsTer18) c.896-29744del c.2903del (p.Pro968LeufsTer18) c.7946del (p.Pro2649LeufsTer18) n.1875del c.8075del (p.Pro2692LeufsTer18) | ClinVar |
2 | g.73490031C>A | CA50377970 | ALMS1 | c.7691C>A (p.Pro2564His) c.1083C>A c.5143C>A c.2138C>A (p.Pro713His) c.8072C>A (p.Pro2691His) c.896-29744C>A c.2903C>A (p.Pro968His) c.7946C>A (p.Pro2649His) n.1875C>A c.8075C>A (p.Pro2692His) | dbSNP |
2 | g.73490031C= | CA1260981303 | ALMS1 | c.7691C= (p.Pro2564=) c.1083C= c.5143C= c.2138C= (p.Pro713=) c.8072C= (p.Pro2691=) c.896-29744C= c.2903C= (p.Pro968=) c.7946C= (p.Pro2649=) n.1875C= c.8075C= (p.Pro2692=) | |
2 | g.73490031C>G | CA347267301 | ALMS1 | c.7691C>G (p.Pro2564Arg) c.1083C>G c.5143C>G c.2138C>G (p.Pro713Arg) c.8072C>G (p.Pro2691Arg) c.896-29744C>G c.2903C>G (p.Pro968Arg) c.7946C>G (p.Pro2649Arg) n.1875C>G c.8075C>G (p.Pro2692Arg) | dbSNP gnomAD v4 |
2 | g.73490031C>T | CA347267299 | ALMS1 | c.7691C>T (p.Pro2564Leu) c.1083C>T c.5143C>T c.2138C>T (p.Pro713Leu) c.8072C>T (p.Pro2691Leu) c.896-29744C>T c.2903C>T (p.Pro968Leu) c.7946C>T (p.Pro2649Leu) n.1875C>T c.8075C>T (p.Pro2692Leu) | gnomAD v4 |
2 | g.73490032T>A | CA427000772 | ALMS1 | c.7692T>A (p.Pro2564=) c.1084T>A c.5144T>A c.2139T>A (p.Pro713=) c.8073T>A (p.Pro2691=) c.896-29743T>A c.2904T>A (p.Pro968=) c.7947T>A (p.Pro2649=) n.1876T>A c.8076T>A (p.Pro2692=) | |
2 | g.73490032T>C | CA427000773 | ALMS1 | c.7692T>C (p.Pro2564=) c.1084T>C c.5144T>C c.2139T>C (p.Pro713=) c.8073T>C (p.Pro2691=) c.896-29743T>C c.2904T>C (p.Pro968=) c.7947T>C (p.Pro2649=) n.1876T>C c.8076T>C (p.Pro2692=) | |
2 | g.73490032T>G | CA427000774 | ALMS1 | c.7692T>G (p.Pro2564=) c.1084T>G c.5144T>G c.2139T>G (p.Pro713=) c.8073T>G (p.Pro2691=) c.896-29743T>G c.2904T>G (p.Pro968=) c.7947T>G (p.Pro2649=) n.1876T>G c.8076T>G (p.Pro2692=) | |
2 | g.73490033A= | CA1260981311 | ALMS1 | c.7693A= (p.Lys2565=) c.1085A= c.5145A= c.2140A= (p.Lys714=) c.8074A= (p.Lys2692=) c.896-29742A= c.2905A= (p.Lys969=) c.7948A= (p.Lys2650=) n.1877A= c.8077A= (p.Lys2693=) | |
2 | g.73490033A>C | CA347267302 | ALMS1 | c.7693A>C (p.Lys2565Gln) c.1085A>C c.5145A>C c.2140A>C (p.Lys714Gln) c.8074A>C (p.Lys2692Gln) c.896-29742A>C c.2905A>C (p.Lys969Gln) c.7948A>C (p.Lys2650Gln) n.1877A>C c.8077A>C (p.Lys2693Gln) | |
2 | g.73490033A>G | CA1714396 | ALMS1 | c.7693A>G (p.Lys2565Glu) c.1085A>G c.5145A>G c.2140A>G (p.Lys714Glu) c.8074A>G (p.Lys2692Glu) c.896-29742A>G c.2905A>G (p.Lys969Glu) c.7948A>G (p.Lys2650Glu) n.1877A>G c.8077A>G (p.Lys2693Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490033A>T | CA347267304 | ALMS1 | c.7693A>T (p.Lys2565Ter) c.1085A>T c.5145A>T c.2140A>T (p.Lys714Ter) c.8074A>T (p.Lys2692Ter) c.896-29742A>T c.2905A>T (p.Lys969Ter) c.7948A>T (p.Lys2650Ter) n.1877A>T c.8077A>T (p.Lys2693Ter) | |
2 | g.73490033_73490036delinsAAAG | CA1260981314 | ALMS1 | c.7693_7696delinsAAAG (p.Lys2565=) c.1085_1088delinsAAAG c.5145_5148delinsAAAG c.2140_2143delinsAAAG (p.Lys714=) c.8074_8077delinsAAAG (p.Lys2692=) c.896-29742_896-29739delinsAAAG c.2905_2908delinsAAAG (p.Lys969=) c.7948_7951delinsAAAG (p.Lys2650=) n.1877_1880delinsAAAG c.8077_8080delinsAAAG (p.Lys2693=) | |
2 | g.73490035_73490038del | CA913090802 | ALMS1 | c.7695_7698del (p.Glu2566TrpfsTer15) c.1087_1090del c.5147_5150del c.2142_2145del (p.Glu715TrpfsTer15) c.8076_8079del (p.Glu2693TrpfsTer15) c.896-29740_896-29737del c.2907_2910del (p.Glu970TrpfsTer15) c.7950_7953del (p.Glu2651TrpfsTer15) n.1879_1882del c.8079_8082del (p.Glu2694TrpfsTer15) | |
2 | g.73490034A= | CA1260981318 | ALMS1 | c.7694A= (p.Lys2565=) c.1086A= c.5146A= c.2141A= (p.Lys714=) c.8075A= (p.Lys2692=) c.896-29741A= c.2906A= (p.Lys969=) c.7949A= (p.Lys2650=) n.1878A= c.8078A= (p.Lys2693=) | |
2 | g.73490034A>C | CA347267307 | ALMS1 | c.7694A>C (p.Lys2565Thr) c.1086A>C c.5146A>C c.2141A>C (p.Lys714Thr) c.8075A>C (p.Lys2692Thr) c.896-29741A>C c.2906A>C (p.Lys969Thr) c.7949A>C (p.Lys2650Thr) n.1878A>C c.8078A>C (p.Lys2693Thr) | |
2 | g.73490034A>G | CA347267309 | ALMS1 | c.7694A>G (p.Lys2565Arg) c.1086A>G c.5146A>G c.2141A>G (p.Lys714Arg) c.8075A>G (p.Lys2692Arg) c.896-29741A>G c.2906A>G (p.Lys969Arg) c.7949A>G (p.Lys2650Arg) n.1878A>G c.8078A>G (p.Lys2693Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490034A>T | CA347267313 | ALMS1 | c.7694A>T (p.Lys2565Ile) c.1086A>T c.5146A>T c.2141A>T (p.Lys714Ile) c.8075A>T (p.Lys2692Ile) c.896-29741A>T c.2906A>T (p.Lys969Ile) c.7949A>T (p.Lys2650Ile) n.1878A>T c.8078A>T (p.Lys2693Ile) | |
2 | g.73490037_73490039del | CA658821973 | ALMS1 | c.7697_7699del (p.Glu2566del) c.1089_1091del c.5149_5151del c.2144_2146del (p.Glu715del) c.8078_8080del (p.Glu2693del) c.896-29738_896-29736del c.2909_2911del (p.Glu970del) c.7952_7954del (p.Glu2651del) n.1881_1883del c.8081_8083del (p.Glu2694del) | ClinVar dbSNP |
2 | g.73490035A>C | CA347267316 | ALMS1 | c.7695A>C (p.Lys2565Asn) c.1087A>C c.5147A>C c.2142A>C (p.Lys714Asn) c.8076A>C (p.Lys2692Asn) c.896-29740A>C c.2907A>C (p.Lys969Asn) c.7950A>C (p.Lys2650Asn) n.1879A>C c.8079A>C (p.Lys2693Asn) | |
2 | g.73490035A>G | CA427000775 | ALMS1 | c.7695A>G (p.Lys2565=) c.1087A>G c.5147A>G c.2142A>G (p.Lys714=) c.8076A>G (p.Lys2692=) c.896-29740A>G c.2907A>G (p.Lys969=) c.7950A>G (p.Lys2650=) n.1879A>G c.8079A>G (p.Lys2693=) | |
2 | g.73490035A>T | CA347267317 | ALMS1 | c.7695A>T (p.Lys2565Asn) c.1087A>T c.5147A>T c.2142A>T (p.Lys714Asn) c.8076A>T (p.Lys2692Asn) c.896-29740A>T c.2907A>T (p.Lys969Asn) c.7950A>T (p.Lys2650Asn) n.1879A>T c.8079A>T (p.Lys2693Asn) | |
2 | g.73490036G>A | CA347267320 | ALMS1 | c.7696G>A (p.Glu2566Lys) c.1088G>A c.5148G>A c.2143G>A (p.Glu715Lys) c.8077G>A (p.Glu2693Lys) c.896-29739G>A c.2908G>A (p.Glu970Lys) c.7951G>A (p.Glu2651Lys) n.1880G>A c.8080G>A (p.Glu2694Lys) | |
2 | g.73490036G>C | CA347267323 | ALMS1 | c.7696G>C (p.Glu2566Gln) c.1088G>C c.5148G>C c.2143G>C (p.Glu715Gln) c.8077G>C (p.Glu2693Gln) c.896-29739G>C c.2908G>C (p.Glu970Gln) c.7951G>C (p.Glu2651Gln) n.1880G>C c.8080G>C (p.Glu2694Gln) | |
2 | g.73490036G= | CA1260981325 | ALMS1 | c.7696G= (p.Glu2566=) c.1088G= c.5148G= c.2143G= (p.Glu715=) c.8077G= (p.Glu2693=) c.896-29739G= c.2908G= (p.Glu970=) c.7951G= (p.Glu2651=) n.1880G= c.8080G= (p.Glu2694=) | |
2 | g.73490036G>T | CA347267325 | ALMS1 | c.7696G>T (p.Glu2566Ter) c.1088G>T c.5148G>T c.2143G>T (p.Glu715Ter) c.8077G>T (p.Glu2693Ter) c.896-29739G>T c.2908G>T (p.Glu970Ter) c.7951G>T (p.Glu2651Ter) n.1880G>T c.8080G>T (p.Glu2694Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490037A= | CA1260981328 | ALMS1 | c.7697A= (p.Glu2566=) c.1089A= c.5149A= c.2144A= (p.Glu715=) c.8078A= (p.Glu2693=) c.896-29738A= c.2909A= (p.Glu970=) c.7952A= (p.Glu2651=) n.1881A= c.8081A= (p.Glu2694=) | |
2 | g.73490037A>C | CA1714397 | ALMS1 | c.7697A>C (p.Glu2566Ala) c.1089A>C c.5149A>C c.2144A>C (p.Glu715Ala) c.8078A>C (p.Glu2693Ala) c.896-29738A>C c.2909A>C (p.Glu970Ala) c.7952A>C (p.Glu2651Ala) n.1881A>C c.8081A>C (p.Glu2694Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490037A>G | CA347267330 | ALMS1 | c.7697A>G (p.Glu2566Gly) c.1089A>G c.5149A>G c.2144A>G (p.Glu715Gly) c.8078A>G (p.Glu2693Gly) c.896-29738A>G c.2909A>G (p.Glu970Gly) c.7952A>G (p.Glu2651Gly) n.1881A>G c.8081A>G (p.Glu2694Gly) | |
2 | g.73490037A>T | CA347267328 | ALMS1 | c.7697A>T (p.Glu2566Val) c.1089A>T c.5149A>T c.2144A>T (p.Glu715Val) c.8078A>T (p.Glu2693Val) c.896-29738A>T c.2909A>T (p.Glu970Val) c.7952A>T (p.Glu2651Val) n.1881A>T c.8081A>T (p.Glu2694Val) | |
2 | g.73490038A= | CA1260981330 | ALMS1 | c.7698A= (p.Glu2566=) c.1090A= c.5150A= c.2145A= (p.Glu715=) c.8079A= (p.Glu2693=) c.896-29737A= c.2910A= (p.Glu970=) c.7953A= (p.Glu2651=) n.1882A= c.8082A= (p.Glu2694=) | |
2 | g.73490038A>C | CA347267332 | ALMS1 | c.7698A>C (p.Glu2566Asp) c.1090A>C c.5150A>C c.2145A>C (p.Glu715Asp) c.8079A>C (p.Glu2693Asp) c.896-29737A>C c.2910A>C (p.Glu970Asp) c.7953A>C (p.Glu2651Asp) n.1882A>C c.8082A>C (p.Glu2694Asp) | |
2 | g.73490038A>G | CA427000776 | ALMS1 | c.7698A>G (p.Glu2566=) c.1090A>G c.5150A>G c.2145A>G (p.Glu715=) c.8079A>G (p.Glu2693=) c.896-29737A>G c.2910A>G (p.Glu970=) c.7953A>G (p.Glu2651=) n.1882A>G c.8082A>G (p.Glu2694=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490038A>T | CA347267334 | ALMS1 | c.7698A>T (p.Glu2566Asp) c.1090A>T c.5150A>T c.2145A>T (p.Glu715Asp) c.8079A>T (p.Glu2693Asp) c.896-29737A>T c.2910A>T (p.Glu970Asp) c.7953A>T (p.Glu2651Asp) n.1882A>T c.8082A>T (p.Glu2694Asp) | |
2 | g.73490039G>A | CA347267339 | ALMS1 | c.7699G>A (p.Val2567Met) c.1091G>A c.5151G>A c.2146G>A (p.Val716Met) c.8080G>A (p.Val2694Met) c.896-29736G>A c.2911G>A (p.Val971Met) c.7954G>A (p.Val2652Met) n.1883G>A c.8083G>A (p.Val2695Met) | gnomAD v4 |
2 | g.73490039G>C | CA347267341 | ALMS1 | c.7699G>C (p.Val2567Leu) c.1091G>C c.5151G>C c.2146G>C (p.Val716Leu) c.8080G>C (p.Val2694Leu) c.896-29736G>C c.2911G>C (p.Val971Leu) c.7954G>C (p.Val2652Leu) n.1883G>C c.8083G>C (p.Val2695Leu) | |
2 | g.73490039G>T | CA347267342 | ALMS1 | c.7699G>T (p.Val2567Leu) c.1091G>T c.5151G>T c.2146G>T (p.Val716Leu) c.8080G>T (p.Val2694Leu) c.896-29736G>T c.2911G>T (p.Val971Leu) c.7954G>T (p.Val2652Leu) n.1883G>T c.8083G>T (p.Val2695Leu) | |
2 | g.73490040T>A | CA347267343 | ALMS1 | c.7700T>A (p.Val2567Glu) c.1092T>A c.5152T>A c.2147T>A (p.Val716Glu) c.8081T>A (p.Val2694Glu) c.896-29735T>A c.2912T>A (p.Val971Glu) c.7955T>A (p.Val2652Glu) n.1884T>A c.8084T>A (p.Val2695Glu) | |
2 | g.73490040T>C | CA347267344 | ALMS1 | c.7700T>C (p.Val2567Ala) c.1092T>C c.5152T>C c.2147T>C (p.Val716Ala) c.8081T>C (p.Val2694Ala) c.896-29735T>C c.2912T>C (p.Val971Ala) c.7955T>C (p.Val2652Ala) n.1884T>C c.8084T>C (p.Val2695Ala) | |
2 | g.73490040T>G | CA1714398 | ALMS1 | c.7700T>G (p.Val2567Gly) c.1092T>G c.5152T>G c.2147T>G (p.Val716Gly) c.8081T>G (p.Val2694Gly) c.896-29735T>G c.2912T>G (p.Val971Gly) c.7955T>G (p.Val2652Gly) n.1884T>G c.8084T>G (p.Val2695Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490040T= | CA1260981332 | ALMS1 | c.7700T= (p.Val2567=) c.1092T= c.5152T= c.2147T= (p.Val716=) c.8081T= (p.Val2694=) c.896-29735T= c.2912T= (p.Val971=) c.7955T= (p.Val2652=) n.1884T= c.8084T= (p.Val2695=) | |
2 | g.73490041G>A | CA427000777 | ALMS1 | c.7701G>A (p.Val2567=) c.1093G>A c.5153G>A c.2148G>A (p.Val716=) c.8082G>A (p.Val2694=) c.896-29734G>A c.2913G>A (p.Val971=) c.7956G>A (p.Val2652=) n.1885G>A c.8085G>A (p.Val2695=) | dbSNP |
2 | g.73490041G>C | CA427000778 | ALMS1 | c.7701G>C (p.Val2567=) c.1093G>C c.5153G>C c.2148G>C (p.Val716=) c.8082G>C (p.Val2694=) c.896-29734G>C c.2913G>C (p.Val971=) c.7956G>C (p.Val2652=) n.1885G>C c.8085G>C (p.Val2695=) | |
2 | g.73490041G>T | CA427000779 | ALMS1 | c.7701G>T (p.Val2567=) c.1093G>T c.5153G>T c.2148G>T (p.Val716=) c.8082G>T (p.Val2694=) c.896-29734G>T c.2913G>T (p.Val971=) c.7956G>T (p.Val2652=) n.1885G>T c.8085G>T (p.Val2695=) | |
2 | g.73490042G>A | CA347267348 | ALMS1 | c.7702G>A (p.Asp2568Asn) c.1094G>A c.5154G>A c.2149G>A (p.Asp717Asn) c.8083G>A (p.Asp2695Asn) c.896-29733G>A c.2914G>A (p.Asp972Asn) c.7957G>A (p.Asp2653Asn) n.1886G>A c.8086G>A (p.Asp2696Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490042G>C | CA347267349 | ALMS1 | c.7702G>C (p.Asp2568His) c.1094G>C c.5154G>C c.2149G>C (p.Asp717His) c.8083G>C (p.Asp2695His) c.896-29733G>C c.2914G>C (p.Asp972His) c.7957G>C (p.Asp2653His) n.1886G>C c.8086G>C (p.Asp2696His) | |
2 | g.73490042G= | CA1260981336 | ALMS1 | c.7702G= (p.Asp2568=) c.1094G= c.5154G= c.2149G= (p.Asp717=) c.8083G= (p.Asp2695=) c.896-29733G= c.2914G= (p.Asp972=) c.7957G= (p.Asp2653=) n.1886G= c.8086G= (p.Asp2696=) | |
2 | g.73490042G>T | CA347267353 | ALMS1 | c.7702G>T (p.Asp2568Tyr) c.1094G>T c.5154G>T c.2149G>T (p.Asp717Tyr) c.8083G>T (p.Asp2695Tyr) c.896-29733G>T c.2914G>T (p.Asp972Tyr) c.7957G>T (p.Asp2653Tyr) n.1886G>T c.8086G>T (p.Asp2696Tyr) | |
2 | g.73490043A>C | CA347267366 | ALMS1 | c.7703A>C (p.Asp2568Ala) c.1095A>C c.5155A>C c.2150A>C (p.Asp717Ala) c.8084A>C (p.Asp2695Ala) c.896-29732A>C c.2915A>C (p.Asp972Ala) c.7958A>C (p.Asp2653Ala) n.1887A>C c.8087A>C (p.Asp2696Ala) | |
2 | g.73490043A>G | CA347267365 | ALMS1 | c.7703A>G (p.Asp2568Gly) c.1095A>G c.5155A>G c.2150A>G (p.Asp717Gly) c.8084A>G (p.Asp2695Gly) c.896-29732A>G c.2915A>G (p.Asp972Gly) c.7958A>G (p.Asp2653Gly) n.1887A>G c.8087A>G (p.Asp2696Gly) | |
2 | g.73490043A>T | CA347267364 | ALMS1 | c.7703A>T (p.Asp2568Val) c.1095A>T c.5155A>T c.2150A>T (p.Asp717Val) c.8084A>T (p.Asp2695Val) c.896-29732A>T c.2915A>T (p.Asp972Val) c.7958A>T (p.Asp2653Val) n.1887A>T c.8087A>T (p.Asp2696Val) | |
2 | g.73490044T>A | CA347267369 | ALMS1 | c.7704T>A (p.Asp2568Glu) c.1096T>A c.5156T>A c.2151T>A (p.Asp717Glu) c.8085T>A (p.Asp2695Glu) c.896-29731T>A c.2916T>A (p.Asp972Glu) c.7959T>A (p.Asp2653Glu) n.1888T>A c.8088T>A (p.Asp2696Glu) | |
2 | g.73490044T>C | CA427000780 | ALMS1 | c.7704T>C (p.Asp2568=) c.1096T>C c.5156T>C c.2151T>C (p.Asp717=) c.8085T>C (p.Asp2695=) c.896-29731T>C c.2916T>C (p.Asp972=) c.7959T>C (p.Asp2653=) n.1888T>C c.8088T>C (p.Asp2696=) | |
2 | g.73490044T>G | CA347267370 | ALMS1 | c.7704T>G (p.Asp2568Glu) c.1096T>G c.5156T>G c.2151T>G (p.Asp717Glu) c.8085T>G (p.Asp2695Glu) c.896-29731T>G c.2916T>G (p.Asp972Glu) c.7959T>G (p.Asp2653Glu) n.1888T>G c.8088T>G (p.Asp2696Glu) | |
2 | g.73490047dup | CA2577005009 | ALMS1 | c.7707dup (p.His2570SerfsTer28) c.1099dup c.5159dup c.2154dup (p.His719SerfsTer28) c.8088dup (p.His2697SerfsTer28) c.896-29728dup c.2919dup (p.His974SerfsTer28) c.7962dup (p.His2655SerfsTer28) n.1891dup c.8091dup (p.His2698SerfsTer28) | gnomAD v4 |
2 | g.73490045T>A | CA347267373 | ALMS1 | c.7705T>A (p.Phe2569Ile) c.1097T>A c.5157T>A c.2152T>A (p.Phe718Ile) c.8086T>A (p.Phe2696Ile) c.896-29730T>A c.2917T>A (p.Phe973Ile) c.7960T>A (p.Phe2654Ile) n.1889T>A c.8089T>A (p.Phe2697Ile) | |
2 | g.73490045T>C | CA347267376 | ALMS1 | c.7705T>C (p.Phe2569Leu) c.1097T>C c.5157T>C c.2152T>C (p.Phe718Leu) c.8086T>C (p.Phe2696Leu) c.896-29730T>C c.2917T>C (p.Phe973Leu) c.7960T>C (p.Phe2654Leu) n.1889T>C c.8089T>C (p.Phe2697Leu) | |
2 | g.73490045T>G | CA347267378 | ALMS1 | c.7705T>G (p.Phe2569Val) c.1097T>G c.5157T>G c.2152T>G (p.Phe718Val) c.8086T>G (p.Phe2696Val) c.896-29730T>G c.2917T>G (p.Phe973Val) c.7960T>G (p.Phe2654Val) n.1889T>G c.8089T>G (p.Phe2697Val) | gnomAD v4 |
2 | g.73490046T>A | CA347267380 | ALMS1 | c.7706T>A (p.Phe2569Tyr) c.1098T>A c.5158T>A c.2153T>A (p.Phe718Tyr) c.8087T>A (p.Phe2696Tyr) c.896-29729T>A c.2918T>A (p.Phe973Tyr) c.7961T>A (p.Phe2654Tyr) n.1890T>A c.8090T>A (p.Phe2697Tyr) | |
2 | g.73490046T>C | CA347267386 | ALMS1 | c.7706T>C (p.Phe2569Ser) c.1098T>C c.5158T>C c.2153T>C (p.Phe718Ser) c.8087T>C (p.Phe2696Ser) c.896-29729T>C c.2918T>C (p.Phe973Ser) c.7961T>C (p.Phe2654Ser) n.1890T>C c.8090T>C (p.Phe2697Ser) | |
2 | g.73490046T>G | CA347267388 | ALMS1 | c.7706T>G (p.Phe2569Cys) c.1098T>G c.5158T>G c.2153T>G (p.Phe718Cys) c.8087T>G (p.Phe2696Cys) c.896-29729T>G c.2918T>G (p.Phe973Cys) c.7961T>G (p.Phe2654Cys) n.1890T>G c.8090T>G (p.Phe2697Cys) | |
2 | g.73490047T>A | CA347267390 | ALMS1 | c.7707T>A (p.Phe2569Leu) c.1099T>A c.5159T>A c.2154T>A (p.Phe718Leu) c.8088T>A (p.Phe2696Leu) c.896-29728T>A c.2919T>A (p.Phe973Leu) c.7962T>A (p.Phe2654Leu) n.1891T>A c.8091T>A (p.Phe2697Leu) | |
2 | g.73490047T>C | CA427000781 | ALMS1 | c.7707T>C (p.Phe2569=) c.1099T>C c.5159T>C c.2154T>C (p.Phe718=) c.8088T>C (p.Phe2696=) c.896-29728T>C c.2919T>C (p.Phe973=) c.7962T>C (p.Phe2654=) n.1891T>C c.8091T>C (p.Phe2697=) | |
2 | g.73490047T>G | CA347267393 | ALMS1 | c.7707T>G (p.Phe2569Leu) c.1099T>G c.5159T>G c.2154T>G (p.Phe718Leu) c.8088T>G (p.Phe2696Leu) c.896-29728T>G c.2919T>G (p.Phe973Leu) c.7962T>G (p.Phe2654Leu) n.1891T>G c.8091T>G (p.Phe2697Leu) | |
2 | g.73490048C>A | CA347267394 | ALMS1 | c.7708C>A (p.His2570Asn) c.1100C>A c.5160C>A c.2155C>A (p.His719Asn) c.8089C>A (p.His2697Asn) c.896-29727C>A c.2920C>A (p.His974Asn) c.7963C>A (p.His2655Asn) n.1892C>A c.8092C>A (p.His2698Asn) | |
2 | g.73490048C= | CA1260981339 | ALMS1 | c.7708C= (p.His2570=) c.1100C= c.5160C= c.2155C= (p.His719=) c.8089C= (p.His2697=) c.896-29727C= c.2920C= (p.His974=) c.7963C= (p.His2655=) n.1892C= c.8092C= (p.His2698=) | |
2 | g.73490048C>G | CA347267395 | ALMS1 | c.7708C>G (p.His2570Asp) c.1100C>G c.5160C>G c.2155C>G (p.His719Asp) c.8089C>G (p.His2697Asp) c.896-29727C>G c.2920C>G (p.His974Asp) c.7963C>G (p.His2655Asp) n.1892C>G c.8092C>G (p.His2698Asp) | |
2 | g.73490048C>T | CA50378010 | ALMS1 | c.7708C>T (p.His2570Tyr) c.1100C>T c.5160C>T c.2155C>T (p.His719Tyr) c.8089C>T (p.His2697Tyr) c.896-29727C>T c.2920C>T (p.His974Tyr) c.7963C>T (p.His2655Tyr) n.1892C>T c.8092C>T (p.His2698Tyr) | ClinVar dbSNP |
2 | g.73490049A= | CA1260981342 | ALMS1 | c.7709A= (p.His2570=) c.1101A= c.5161A= c.2156A= (p.His719=) c.8090A= (p.His2697=) c.896-29726A= c.2921A= (p.His974=) c.7964A= (p.His2655=) n.1893A= c.8093A= (p.His2698=) | |
2 | g.73490049A>C | CA1714399 | ALMS1 | c.7709A>C (p.His2570Pro) c.1101A>C c.5161A>C c.2156A>C (p.His719Pro) c.8090A>C (p.His2697Pro) c.896-29726A>C c.2921A>C (p.His974Pro) c.7964A>C (p.His2655Pro) n.1893A>C c.8093A>C (p.His2698Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490049A>G | CA347267397 | ALMS1 | c.7709A>G (p.His2570Arg) c.1101A>G c.5161A>G c.2156A>G (p.His719Arg) c.8090A>G (p.His2697Arg) c.896-29726A>G c.2921A>G (p.His974Arg) c.7964A>G (p.His2655Arg) n.1893A>G c.8093A>G (p.His2698Arg) | |
2 | g.73490049A>T | CA347267399 | ALMS1 | c.7709A>T (p.His2570Leu) c.1101A>T c.5161A>T c.2156A>T (p.His719Leu) c.8090A>T (p.His2697Leu) c.896-29726A>T c.2921A>T (p.His974Leu) c.7964A>T (p.His2655Leu) n.1893A>T c.8093A>T (p.His2698Leu) | gnomAD v4 |
2 | g.73490050T>A | CA347267402 | ALMS1 | c.7710T>A (p.His2570Gln) c.1102T>A c.5162T>A c.2157T>A (p.His719Gln) c.8091T>A (p.His2697Gln) c.896-29725T>A c.2922T>A (p.His974Gln) c.7965T>A (p.His2655Gln) n.1894T>A c.8094T>A (p.His2698Gln) | |
2 | g.73490050T>C | CA427000782 | ALMS1 | c.7710T>C (p.His2570=) c.1102T>C c.5162T>C c.2157T>C (p.His719=) c.8091T>C (p.His2697=) c.896-29725T>C c.2922T>C (p.His974=) c.7965T>C (p.His2655=) n.1894T>C c.8094T>C (p.His2698=) | |
2 | g.73490050T>G | CA347267404 | ALMS1 | c.7710T>G (p.His2570Gln) c.1102T>G c.5162T>G c.2157T>G (p.His719Gln) c.8091T>G (p.His2697Gln) c.896-29725T>G c.2922T>G (p.His974Gln) c.7965T>G (p.His2655Gln) n.1894T>G c.8094T>G (p.His2698Gln) | gnomAD v4 |
2 | g.73490053_73490055del | CA2659619850 | ALMS1 | c.7713_7715del (p.Ser2572del) c.1105_1107del c.5165_5167del c.2160_2162del (p.Ser721del) c.8094_8096del (p.Ser2699del) c.896-29722_896-29720del c.2925_2927del (p.Ser976del) c.7968_7970del (p.Ser2657del) n.1897_1899del c.8097_8099del (p.Ser2700del) | gnomAD v4 |
2 | g.73490051T>A | CA347267406 | ALMS1 | c.7711T>A (p.Ser2571Thr) c.1103T>A c.5163T>A c.2158T>A (p.Ser720Thr) c.8092T>A (p.Ser2698Thr) c.896-29724T>A c.2923T>A (p.Ser975Thr) c.7966T>A (p.Ser2656Thr) n.1895T>A c.8095T>A (p.Ser2699Thr) | |
2 | g.73490051T>C | CA347267415 | ALMS1 | c.7711T>C (p.Ser2571Pro) c.1103T>C c.5163T>C c.2158T>C (p.Ser720Pro) c.8092T>C (p.Ser2698Pro) c.896-29724T>C c.2923T>C (p.Ser975Pro) c.7966T>C (p.Ser2656Pro) n.1895T>C c.8095T>C (p.Ser2699Pro) | |
2 | g.73490051T>G | CA347267416 | ALMS1 | c.7711T>G (p.Ser2571Ala) c.1103T>G c.5163T>G c.2158T>G (p.Ser720Ala) c.8092T>G (p.Ser2698Ala) c.896-29724T>G c.2923T>G (p.Ser975Ala) c.7966T>G (p.Ser2656Ala) n.1895T>G c.8095T>G (p.Ser2699Ala) | |
2 | g.73490052C>A | CA347267417 | ALMS1 | c.7712C>A (p.Ser2571Tyr) c.1104C>A c.5164C>A c.2159C>A (p.Ser720Tyr) c.8093C>A (p.Ser2698Tyr) c.896-29723C>A c.2924C>A (p.Ser975Tyr) c.7967C>A (p.Ser2656Tyr) n.1896C>A c.8096C>A (p.Ser2699Tyr) | |
2 | g.73490052C>G | CA347267418 | ALMS1 | c.7712C>G (p.Ser2571Cys) c.1104C>G c.5164C>G c.2159C>G (p.Ser720Cys) c.8093C>G (p.Ser2698Cys) c.896-29723C>G c.2924C>G (p.Ser975Cys) c.7967C>G (p.Ser2656Cys) n.1896C>G c.8096C>G (p.Ser2699Cys) | |
2 | g.73490052C>T | CA347267420 | ALMS1 | c.7712C>T (p.Ser2571Phe) c.1104C>T c.5164C>T c.2159C>T (p.Ser720Phe) c.8093C>T (p.Ser2698Phe) c.896-29723C>T c.2924C>T (p.Ser975Phe) c.7967C>T (p.Ser2656Phe) n.1896C>T c.8096C>T (p.Ser2699Phe) | |
2 | g.73490053T>A | CA427000793 | ALMS1 | c.7713T>A (p.Ser2571=) c.1105T>A c.5165T>A c.2160T>A (p.Ser720=) c.8094T>A (p.Ser2698=) c.896-29722T>A c.2925T>A (p.Ser975=) c.7968T>A (p.Ser2656=) n.1897T>A c.8097T>A (p.Ser2699=) | |
2 | g.73490053T>C | CA427000794 | ALMS1 | c.7713T>C (p.Ser2571=) c.1105T>C c.5165T>C c.2160T>C (p.Ser720=) c.8094T>C (p.Ser2698=) c.896-29722T>C c.2925T>C (p.Ser975=) c.7968T>C (p.Ser2656=) n.1897T>C c.8097T>C (p.Ser2699=) | gnomAD v4 |
2 | g.73490053T>G | CA427000795 | ALMS1 | c.7713T>G (p.Ser2571=) c.1105T>G c.5165T>G c.2160T>G (p.Ser720=) c.8094T>G (p.Ser2698=) c.896-29722T>G c.2925T>G (p.Ser975=) c.7968T>G (p.Ser2656=) n.1897T>G c.8097T>G (p.Ser2699=) | |
2 | g.73490054T>A | CA347267422 | ALMS1 | c.7714T>A (p.Ser2572Thr) c.1106T>A c.5166T>A c.2161T>A (p.Ser721Thr) c.8095T>A (p.Ser2699Thr) c.896-29721T>A c.2926T>A (p.Ser976Thr) c.7969T>A (p.Ser2657Thr) n.1898T>A c.8098T>A (p.Ser2700Thr) | |
2 | g.73490054T>C | CA347267424 | ALMS1 | c.7714T>C (p.Ser2572Pro) c.1106T>C c.5166T>C c.2161T>C (p.Ser721Pro) c.8095T>C (p.Ser2699Pro) c.896-29721T>C c.2926T>C (p.Ser976Pro) c.7969T>C (p.Ser2657Pro) n.1898T>C c.8098T>C (p.Ser2700Pro) | |
2 | g.73490054T>G | CA347267426 | ALMS1 | c.7714T>G (p.Ser2572Ala) c.1106T>G c.5166T>G c.2161T>G (p.Ser721Ala) c.8095T>G (p.Ser2699Ala) c.896-29721T>G c.2926T>G (p.Ser976Ala) c.7969T>G (p.Ser2657Ala) n.1898T>G c.8098T>G (p.Ser2700Ala) | |
2 | g.73490055C>A | CA347267428 | ALMS1 | c.7715C>A (p.Ser2572Ter) c.1107C>A c.5167C>A c.2162C>A (p.Ser721Ter) c.8096C>A (p.Ser2699Ter) c.896-29720C>A c.2927C>A (p.Ser976Ter) c.7970C>A (p.Ser2657Ter) n.1899C>A c.8099C>A (p.Ser2700Ter) | |
2 | g.73490055C= | CA1260981346 | ALMS1 | c.7715C= (p.Ser2572=) c.1107C= c.5167C= c.2162C= (p.Ser721=) c.8096C= (p.Ser2699=) c.896-29720C= c.2927C= (p.Ser976=) c.7970C= (p.Ser2657=) n.1899C= c.8099C= (p.Ser2700=) | |
2 | g.73490055C>G | CA347267430 | ALMS1 | c.7715C>G (p.Ser2572Ter) c.1107C>G c.5167C>G c.2162C>G (p.Ser721Ter) c.8096C>G (p.Ser2699Ter) c.896-29720C>G c.2927C>G (p.Ser976Ter) c.7970C>G (p.Ser2657Ter) n.1899C>G c.8099C>G (p.Ser2700Ter) | |
2 | g.73490055C>T | CA1714400 | ALMS1 | c.7715C>T (p.Ser2572Leu) c.1107C>T c.5167C>T c.2162C>T (p.Ser721Leu) c.8096C>T (p.Ser2699Leu) c.896-29720C>T c.2927C>T (p.Ser976Leu) c.7970C>T (p.Ser2657Leu) n.1899C>T c.8099C>T (p.Ser2700Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490056A>C | CA427000803 | ALMS1 | c.7716A>C (p.Ser2572=) c.1108A>C c.5168A>C c.2163A>C (p.Ser721=) c.8097A>C (p.Ser2699=) c.896-29719A>C c.2928A>C (p.Ser976=) c.7971A>C (p.Ser2657=) n.1900A>C c.8100A>C (p.Ser2700=) | gnomAD v4 |
2 | g.73490056A>G | CA427000805 | ALMS1 | c.7716A>G (p.Ser2572=) c.1108A>G c.5168A>G c.2163A>G (p.Ser721=) c.8097A>G (p.Ser2699=) c.896-29719A>G c.2928A>G (p.Ser976=) c.7971A>G (p.Ser2657=) n.1900A>G c.8100A>G (p.Ser2700=) | gnomAD v4 |
2 | g.73490056A>T | CA427000807 | ALMS1 | c.7716A>T (p.Ser2572=) c.1108A>T c.5168A>T c.2163A>T (p.Ser721=) c.8097A>T (p.Ser2699=) c.896-29719A>T c.2928A>T (p.Ser976=) c.7971A>T (p.Ser2657=) n.1900A>T c.8100A>T (p.Ser2700=) | |
2 | g.73490057T>A | CA347267432 | ALMS1 | c.7717T>A (p.Ser2573Thr) c.1109T>A c.5169T>A c.2164T>A (p.Ser722Thr) c.8098T>A (p.Ser2700Thr) c.896-29718T>A c.2929T>A (p.Ser977Thr) c.7972T>A (p.Ser2658Thr) n.1901T>A c.8101T>A (p.Ser2701Thr) | |
2 | g.73490057T>C | CA347267434 | ALMS1 | c.7717T>C (p.Ser2573Pro) c.1109T>C c.5169T>C c.2164T>C (p.Ser722Pro) c.8098T>C (p.Ser2700Pro) c.896-29718T>C c.2929T>C (p.Ser977Pro) c.7972T>C (p.Ser2658Pro) n.1901T>C c.8101T>C (p.Ser2701Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490057T>G | CA347267436 | ALMS1 | c.7717T>G (p.Ser2573Ala) c.1109T>G c.5169T>G c.2164T>G (p.Ser722Ala) c.8098T>G (p.Ser2700Ala) c.896-29718T>G c.2929T>G (p.Ser977Ala) c.7972T>G (p.Ser2658Ala) n.1901T>G c.8101T>G (p.Ser2701Ala) | |
2 | g.73490057T= | CA1260981351 | ALMS1 | c.7717T= (p.Ser2573=) c.1109T= c.5169T= c.2164T= (p.Ser722=) c.8098T= (p.Ser2700=) c.896-29718T= c.2929T= (p.Ser977=) c.7972T= (p.Ser2658=) n.1901T= c.8101T= (p.Ser2701=) | |
2 | g.73490058C>A | CA347267437 | ALMS1 | c.7718C>A (p.Ser2573Ter) c.1110C>A c.5170C>A c.2165C>A (p.Ser722Ter) c.8099C>A (p.Ser2700Ter) c.896-29717C>A c.2930C>A (p.Ser977Ter) c.7973C>A (p.Ser2658Ter) n.1902C>A c.8102C>A (p.Ser2701Ter) | |
2 | g.73490058C= | CA1260981353 | ALMS1 | c.7718C= (p.Ser2573=) c.1110C= c.5170C= c.2165C= (p.Ser722=) c.8099C= (p.Ser2700=) c.896-29717C= c.2930C= (p.Ser977=) c.7973C= (p.Ser2658=) n.1902C= c.8102C= (p.Ser2701=) | |
2 | g.73490058C>G | CA347267439 | ALMS1 | c.7718C>G (p.Ser2573Ter) c.1110C>G c.5170C>G c.2165C>G (p.Ser722Ter) c.8099C>G (p.Ser2700Ter) c.896-29717C>G c.2930C>G (p.Ser977Ter) c.7973C>G (p.Ser2658Ter) n.1902C>G c.8102C>G (p.Ser2701Ter) | |
2 | g.73490058C>T | CA347267441 | ALMS1 | c.7718C>T (p.Ser2573Leu) c.1110C>T c.5170C>T c.2165C>T (p.Ser722Leu) c.8099C>T (p.Ser2700Leu) c.896-29717C>T c.2930C>T (p.Ser977Leu) c.7973C>T (p.Ser2658Leu) n.1902C>T c.8102C>T (p.Ser2701Leu) | dbSNP gnomAD v4 |
2 | g.73490059A= | CA1260981355 | ALMS1 | c.7719A= (p.Ser2573=) c.1111A= c.5171A= c.2166A= (p.Ser722=) c.8100A= (p.Ser2700=) c.896-29716A= c.2931A= (p.Ser977=) c.7974A= (p.Ser2658=) n.1903A= c.8103A= (p.Ser2701=) | |
2 | g.73490059A>C | CA427000813 | ALMS1 | c.7719A>C (p.Ser2573=) c.1111A>C c.5171A>C c.2166A>C (p.Ser722=) c.8100A>C (p.Ser2700=) c.896-29716A>C c.2931A>C (p.Ser977=) c.7974A>C (p.Ser2658=) n.1903A>C c.8103A>C (p.Ser2701=) | |
2 | g.73490059A>G | CA427000815 | ALMS1 | c.7719A>G (p.Ser2573=) c.1111A>G c.5171A>G c.2166A>G (p.Ser722=) c.8100A>G (p.Ser2700=) c.896-29716A>G c.2931A>G (p.Ser977=) c.7974A>G (p.Ser2658=) n.1903A>G c.8103A>G (p.Ser2701=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490059A>T | CA427000816 | ALMS1 | c.7719A>T (p.Ser2573=) c.1111A>T c.5171A>T c.2166A>T (p.Ser722=) c.8100A>T (p.Ser2700=) c.896-29716A>T c.2931A>T (p.Ser977=) c.7974A>T (p.Ser2658=) n.1903A>T c.8103A>T (p.Ser2701=) | |
2 | g.73490059_73490060delinsAC | CA1260981358 | ALMS1 | c.7719_7720delinsAC (p.Ser2573=) c.1111_1112delinsAC c.5171_5172delinsAC c.2166_2167delinsAC (p.Ser722=) c.8100_8101delinsAC (p.Ser2700=) c.896-29716_896-29715delinsAC c.2931_2932delinsAC (p.Ser977=) c.7974_7975delinsAC (p.Ser2658=) n.1903_1904delinsAC c.8103_8104delinsAC (p.Ser2701=) | |
2 | g.73490060del | CA892865923 | ALMS1 | c.7720del (p.Gln2574LysfsTer8) c.1112del c.5172del c.2167del (p.Gln723LysfsTer8) c.8101del (p.Gln2701LysfsTer8) c.896-29715del c.2932del (p.Gln978LysfsTer8) c.7975del (p.Gln2659LysfsTer8) n.1904del c.8104del (p.Gln2702LysfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490060C>A | CA347267448 | ALMS1 | c.7720C>A (p.Gln2574Lys) c.1112C>A c.5172C>A c.2167C>A (p.Gln723Lys) c.8101C>A (p.Gln2701Lys) c.896-29715C>A c.2932C>A (p.Gln978Lys) c.7975C>A (p.Gln2659Lys) n.1904C>A c.8104C>A (p.Gln2702Lys) | |
2 | g.73490060C>G | CA347267444 | ALMS1 | c.7720C>G (p.Gln2574Glu) c.1112C>G c.5172C>G c.2167C>G (p.Gln723Glu) c.8101C>G (p.Gln2701Glu) c.896-29715C>G c.2932C>G (p.Gln978Glu) c.7975C>G (p.Gln2659Glu) n.1904C>G c.8104C>G (p.Gln2702Glu) | |
2 | g.73490060C>T | CA347267445 | ALMS1 | c.7720C>T (p.Gln2574Ter) c.1112C>T c.5172C>T c.2167C>T (p.Gln723Ter) c.8101C>T (p.Gln2701Ter) c.896-29715C>T c.2932C>T (p.Gln978Ter) c.7975C>T (p.Gln2659Ter) n.1904C>T c.8104C>T (p.Gln2702Ter) | |
2 | g.73490061A= | CA1260981363 | ALMS1 | c.7721A= (p.Gln2574=) c.1113A= c.5173A= c.2168A= (p.Gln723=) c.8102A= (p.Gln2701=) c.896-29714A= c.2933A= (p.Gln978=) c.7976A= (p.Gln2659=) n.1905A= c.8105A= (p.Gln2702=) | |
2 | g.73490061A>C | CA1714401 | ALMS1 | c.7721A>C (p.Gln2574Pro) c.1113A>C c.5173A>C c.2168A>C (p.Gln723Pro) c.8102A>C (p.Gln2701Pro) c.896-29714A>C c.2933A>C (p.Gln978Pro) c.7976A>C (p.Gln2659Pro) n.1905A>C c.8105A>C (p.Gln2702Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490061A>G | CA347267451 | ALMS1 | c.7721A>G (p.Gln2574Arg) c.1113A>G c.5173A>G c.2168A>G (p.Gln723Arg) c.8102A>G (p.Gln2701Arg) c.896-29714A>G c.2933A>G (p.Gln978Arg) c.7976A>G (p.Gln2659Arg) n.1905A>G c.8105A>G (p.Gln2702Arg) | |
2 | g.73490061A>T | CA347267453 | ALMS1 | c.7721A>T (p.Gln2574Leu) c.1113A>T c.5173A>T c.2168A>T (p.Gln723Leu) c.8102A>T (p.Gln2701Leu) c.896-29714A>T c.2933A>T (p.Gln978Leu) c.7976A>T (p.Gln2659Leu) n.1905A>T c.8105A>T (p.Gln2702Leu) | |
2 | g.73490062A>C | CA347267454 | ALMS1 | c.7722A>C (p.Gln2574His) c.1114A>C c.5174A>C c.2169A>C (p.Gln723His) c.8103A>C (p.Gln2701His) c.896-29713A>C c.2934A>C (p.Gln978His) c.7977A>C (p.Gln2659His) n.1906A>C c.8106A>C (p.Gln2702His) | |
2 | g.73490062A>G | CA427000824 | ALMS1 | c.7722A>G (p.Gln2574=) c.1114A>G c.5174A>G c.2169A>G (p.Gln723=) c.8103A>G (p.Gln2701=) c.896-29713A>G c.2934A>G (p.Gln978=) c.7977A>G (p.Gln2659=) n.1906A>G c.8106A>G (p.Gln2702=) | |
2 | g.73490062A>T | CA347267456 | ALMS1 | c.7722A>T (p.Gln2574His) c.1114A>T c.5174A>T c.2169A>T (p.Gln723His) c.8103A>T (p.Gln2701His) c.896-29713A>T c.2934A>T (p.Gln978His) c.7977A>T (p.Gln2659His) n.1906A>T c.8106A>T (p.Gln2702His) | |
2 | g.73490063A>C | CA347267457 | ALMS1 | c.7723A>C (p.Met2575Leu) c.1115A>C c.5175A>C c.2170A>C (p.Met724Leu) c.8104A>C (p.Met2702Leu) c.896-29712A>C c.2935A>C (p.Met979Leu) c.7978A>C (p.Met2660Leu) n.1907A>C c.8107A>C (p.Met2703Leu) | |
2 | g.73490063A>G | CA347267460 | ALMS1 | c.7723A>G (p.Met2575Val) c.1115A>G c.5175A>G c.2170A>G (p.Met724Val) c.8104A>G (p.Met2702Val) c.896-29712A>G c.2935A>G (p.Met979Val) c.7978A>G (p.Met2660Val) n.1907A>G c.8107A>G (p.Met2703Val) | |
2 | g.73490063A>T | CA347267458 | ALMS1 | c.7723A>T (p.Met2575Leu) c.1115A>T c.5175A>T c.2170A>T (p.Met724Leu) c.8104A>T (p.Met2702Leu) c.896-29712A>T c.2935A>T (p.Met979Leu) c.7978A>T (p.Met2660Leu) n.1907A>T c.8107A>T (p.Met2703Leu) | |
2 | g.73490064T>A | CA347267462 | ALMS1 | c.7724T>A (p.Met2575Lys) c.1116T>A c.5176T>A c.2171T>A (p.Met724Lys) c.8105T>A (p.Met2702Lys) c.896-29711T>A c.2936T>A (p.Met979Lys) c.7979T>A (p.Met2660Lys) n.1908T>A c.8108T>A (p.Met2703Lys) | |
2 | g.73490064T>C | CA347267465 | ALMS1 | c.7724T>C (p.Met2575Thr) c.1116T>C c.5176T>C c.2171T>C (p.Met724Thr) c.8105T>C (p.Met2702Thr) c.896-29711T>C c.2936T>C (p.Met979Thr) c.7979T>C (p.Met2660Thr) n.1908T>C c.8108T>C (p.Met2703Thr) | |
2 | g.73490064T>G | CA347267468 | ALMS1 | c.7724T>G (p.Met2575Arg) c.1116T>G c.5176T>G c.2171T>G (p.Met724Arg) c.8105T>G (p.Met2702Arg) c.896-29711T>G c.2936T>G (p.Met979Arg) c.7979T>G (p.Met2660Arg) n.1908T>G c.8108T>G (p.Met2703Arg) | |
2 | g.73490065G>A | CA347267469 | ALMS1 | c.7725G>A (p.Met2575Ile) c.1117G>A c.5177G>A c.2172G>A (p.Met724Ile) c.8106G>A (p.Met2702Ile) c.896-29710G>A c.2937G>A (p.Met979Ile) c.7980G>A (p.Met2660Ile) n.1909G>A c.8109G>A (p.Met2703Ile) | |
2 | g.73490065G>C | CA347267470 | ALMS1 | c.7725G>C (p.Met2575Ile) c.1117G>C c.5177G>C c.2172G>C (p.Met724Ile) c.8106G>C (p.Met2702Ile) c.896-29710G>C c.2937G>C (p.Met979Ile) c.7980G>C (p.Met2660Ile) n.1909G>C c.8109G>C (p.Met2703Ile) | |
2 | g.73490065G>T | CA347267471 | ALMS1 | c.7725G>T (p.Met2575Ile) c.1117G>T c.5177G>T c.2172G>T (p.Met724Ile) c.8106G>T (p.Met2702Ile) c.896-29710G>T c.2937G>T (p.Met979Ile) c.7980G>T (p.Met2660Ile) n.1909G>T c.8109G>T (p.Met2703Ile) | |
2 | g.73490066C>A | CA347267472 | ALMS1 | c.7726C>A (p.Pro2576Thr) c.1118C>A c.5178C>A c.2173C>A (p.Pro725Thr) c.8107C>A (p.Pro2703Thr) c.896-29709C>A c.2938C>A (p.Pro980Thr) c.7981C>A (p.Pro2661Thr) n.1910C>A c.8110C>A (p.Pro2704Thr) | |
2 | g.73490066C>G | CA347267474 | ALMS1 | c.7726C>G (p.Pro2576Ala) c.1118C>G c.5178C>G c.2173C>G (p.Pro725Ala) c.8107C>G (p.Pro2703Ala) c.896-29709C>G c.2938C>G (p.Pro980Ala) c.7981C>G (p.Pro2661Ala) n.1910C>G c.8110C>G (p.Pro2704Ala) | |
2 | g.73490066C>T | CA347267475 | ALMS1 | c.7726C>T (p.Pro2576Ser) c.1118C>T c.5178C>T c.2173C>T (p.Pro725Ser) c.8107C>T (p.Pro2703Ser) c.896-29709C>T c.2938C>T (p.Pro980Ser) c.7981C>T (p.Pro2661Ser) n.1910C>T c.8110C>T (p.Pro2704Ser) | |
2 | g.73490067C>A | CA347267476 | ALMS1 | c.7727C>A (p.Pro2576Gln) c.1119C>A c.5179C>A c.2174C>A (p.Pro725Gln) c.8108C>A (p.Pro2703Gln) c.896-29708C>A c.2939C>A (p.Pro980Gln) c.7982C>A (p.Pro2661Gln) n.1911C>A c.8111C>A (p.Pro2704Gln) | gnomAD v4 |
2 | g.73490067C= | CA1260981369 | ALMS1 | c.7727C= (p.Pro2576=) c.1119C= c.5179C= c.2174C= (p.Pro725=) c.8108C= (p.Pro2703=) c.896-29708C= c.2939C= (p.Pro980=) c.7982C= (p.Pro2661=) n.1911C= c.8111C= (p.Pro2704=) | |
2 | g.73490067C>G | CA347267478 | ALMS1 | c.7727C>G (p.Pro2576Arg) c.1119C>G c.5179C>G c.2174C>G (p.Pro725Arg) c.8108C>G (p.Pro2703Arg) c.896-29708C>G c.2939C>G (p.Pro980Arg) c.7982C>G (p.Pro2661Arg) n.1911C>G c.8111C>G (p.Pro2704Arg) | |
2 | g.73490067C>T | CA1714402 | ALMS1 | c.7727C>T (p.Pro2576Leu) c.1119C>T c.5179C>T c.2174C>T (p.Pro725Leu) c.8108C>T (p.Pro2703Leu) c.896-29708C>T c.2939C>T (p.Pro980Leu) c.7982C>T (p.Pro2661Leu) n.1911C>T c.8111C>T (p.Pro2704Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490068del | CA2499216255 | ALMS1 | c.7728del (p.Ser2577ProfsTer5) c.1120del c.5180del c.2175del (p.Ser726ProfsTer5) c.8109del (p.Ser2704ProfsTer5) c.896-29707del c.2940del (p.Ser981ProfsTer5) c.7983del (p.Ser2662ProfsTer5) n.1912del c.8112del (p.Ser2705ProfsTer5) | ClinVar dbSNP |
2 | g.73490068G>A | CA1714403 | ALMS1 | c.7728G>A (p.Pro2576=) c.1120G>A c.5180G>A c.2175G>A (p.Pro725=) c.8109G>A (p.Pro2703=) c.896-29707G>A c.2940G>A (p.Pro980=) c.7983G>A (p.Pro2661=) n.1912G>A c.8112G>A (p.Pro2704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490068G>C | CA427000831 | ALMS1 | c.7728G>C (p.Pro2576=) c.1120G>C c.5180G>C c.2175G>C (p.Pro725=) c.8109G>C (p.Pro2703=) c.896-29707G>C c.2940G>C (p.Pro980=) c.7983G>C (p.Pro2661=) n.1912G>C c.8112G>C (p.Pro2704=) | |
2 | g.73490068G= | CA1260981374 | ALMS1 | c.7728G= (p.Pro2576=) c.1120G= c.5180G= c.2175G= (p.Pro725=) c.8109G= (p.Pro2703=) c.896-29707G= c.2940G= (p.Pro980=) c.7983G= (p.Pro2661=) n.1912G= c.8112G= (p.Pro2704=) | |
2 | g.73490068G>T | CA1714404 | ALMS1 | c.7728G>T (p.Pro2576=) c.1120G>T c.5180G>T c.2175G>T (p.Pro725=) c.8109G>T (p.Pro2703=) c.896-29707G>T c.2940G>T (p.Pro980=) c.7983G>T (p.Pro2661=) n.1912G>T c.8112G>T (p.Pro2704=) | dbSNP ExAC gnomAD v2 |
2 | g.73490069T>A | CA347267484 | ALMS1 | c.7729T>A (p.Ser2577Thr) c.1121T>A c.5181T>A c.2176T>A (p.Ser726Thr) c.8110T>A (p.Ser2704Thr) c.896-29706T>A c.2941T>A (p.Ser981Thr) c.7984T>A (p.Ser2662Thr) n.1913T>A c.8113T>A (p.Ser2705Thr) | |
2 | g.73490069T>C | CA347267489 | ALMS1 | c.7729T>C (p.Ser2577Pro) c.1121T>C c.5181T>C c.2176T>C (p.Ser726Pro) c.8110T>C (p.Ser2704Pro) c.896-29706T>C c.2941T>C (p.Ser981Pro) c.7984T>C (p.Ser2662Pro) n.1913T>C c.8113T>C (p.Ser2705Pro) | |
2 | g.73490069T>G | CA347267487 | ALMS1 | c.7729T>G (p.Ser2577Ala) c.1121T>G c.5181T>G c.2176T>G (p.Ser726Ala) c.8110T>G (p.Ser2704Ala) c.896-29706T>G c.2941T>G (p.Ser981Ala) c.7984T>G (p.Ser2662Ala) n.1913T>G c.8113T>G (p.Ser2705Ala) | |
2 | g.73490070C>A | CA347267495 | ALMS1 | c.7730C>A (p.Ser2577Tyr) c.1122C>A c.5182C>A c.2177C>A (p.Ser726Tyr) c.8111C>A (p.Ser2704Tyr) c.896-29705C>A c.2942C>A (p.Ser981Tyr) c.7985C>A (p.Ser2662Tyr) n.1914C>A c.8114C>A (p.Ser2705Tyr) | dbSNP |
2 | g.73490070C= | CA1260981381 | ALMS1 | c.7730C= (p.Ser2577=) c.1122C= c.5182C= c.2177C= (p.Ser726=) c.8111C= (p.Ser2704=) c.896-29705C= c.2942C= (p.Ser981=) c.7985C= (p.Ser2662=) n.1914C= c.8114C= (p.Ser2705=) | |
2 | g.73490070C>G | CA347267496 | ALMS1 | c.7730C>G (p.Ser2577Cys) c.1122C>G c.5182C>G c.2177C>G (p.Ser726Cys) c.8111C>G (p.Ser2704Cys) c.896-29705C>G c.2942C>G (p.Ser981Cys) c.7985C>G (p.Ser2662Cys) n.1914C>G c.8114C>G (p.Ser2705Cys) | |
2 | g.73490070C>T | CA1714405 | ALMS1 | c.7730C>T (p.Ser2577Phe) c.1122C>T c.5182C>T c.2177C>T (p.Ser726Phe) c.8111C>T (p.Ser2704Phe) c.896-29705C>T c.2942C>T (p.Ser981Phe) c.7985C>T (p.Ser2662Phe) n.1914C>T c.8114C>T (p.Ser2705Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490071C>A | CA427000841 | ALMS1 | c.7731C>A (p.Ser2577=) c.1123C>A c.5183C>A c.2178C>A (p.Ser726=) c.8112C>A (p.Ser2704=) c.896-29704C>A c.2943C>A (p.Ser981=) c.7986C>A (p.Ser2662=) n.1915C>A c.8115C>A (p.Ser2705=) | |
2 | g.73490071C>G | CA427000843 | ALMS1 | c.7731C>G (p.Ser2577=) c.1123C>G c.5183C>G c.2178C>G (p.Ser726=) c.8112C>G (p.Ser2704=) c.896-29704C>G c.2943C>G (p.Ser981=) c.7986C>G (p.Ser2662=) n.1915C>G c.8115C>G (p.Ser2705=) | |
2 | g.73490071C>T | CA427000840 | ALMS1 | c.7731C>T (p.Ser2577=) c.1123C>T c.5183C>T c.2178C>T (p.Ser726=) c.8112C>T (p.Ser2704=) c.896-29704C>T c.2943C>T (p.Ser981=) c.7986C>T (p.Ser2662=) n.1915C>T c.8115C>T (p.Ser2705=) | |
2 | g.73490072C>A | CA347267497 | ALMS1 | c.7732C>A (p.Pro2578Thr) c.1124C>A c.5184C>A c.2179C>A (p.Pro727Thr) c.8113C>A (p.Pro2705Thr) c.896-29703C>A c.2944C>A (p.Pro982Thr) c.7987C>A (p.Pro2663Thr) n.1916C>A c.8116C>A (p.Pro2706Thr) | |
2 | g.73490072C= | CA1260981388 | ALMS1 | c.7732C= (p.Pro2578=) c.1124C= c.5184C= c.2179C= (p.Pro727=) c.8113C= (p.Pro2705=) c.896-29703C= c.2944C= (p.Pro982=) c.7987C= (p.Pro2663=) n.1916C= c.8116C= (p.Pro2706=) | |
2 | g.73490072C>G | CA347267498 | ALMS1 | c.7732C>G (p.Pro2578Ala) c.1124C>G c.5184C>G c.2179C>G (p.Pro727Ala) c.8113C>G (p.Pro2705Ala) c.896-29703C>G c.2944C>G (p.Pro982Ala) c.7987C>G (p.Pro2663Ala) n.1916C>G c.8116C>G (p.Pro2706Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490072C>T | CA347267499 | ALMS1 | c.7732C>T (p.Pro2578Ser) c.1124C>T c.5184C>T c.2179C>T (p.Pro727Ser) c.8113C>T (p.Pro2705Ser) c.896-29703C>T c.2944C>T (p.Pro982Ser) c.7987C>T (p.Pro2663Ser) n.1916C>T c.8116C>T (p.Pro2706Ser) | |
2 | g.73490073C>A | CA347267500 | ALMS1 | c.7733C>A (p.Pro2578Gln) c.1125C>A c.5185C>A c.2180C>A (p.Pro727Gln) c.8114C>A (p.Pro2705Gln) c.896-29702C>A c.2945C>A (p.Pro982Gln) c.7988C>A (p.Pro2663Gln) n.1917C>A c.8117C>A (p.Pro2706Gln) | |
2 | g.73490073C>G | CA347267502 | ALMS1 | c.7733C>G (p.Pro2578Arg) c.1125C>G c.5185C>G c.2180C>G (p.Pro727Arg) c.8114C>G (p.Pro2705Arg) c.896-29702C>G c.2945C>G (p.Pro982Arg) c.7988C>G (p.Pro2663Arg) n.1917C>G c.8117C>G (p.Pro2706Arg) | |
2 | g.73490073C>T | CA347267503 | ALMS1 | c.7733C>T (p.Pro2578Leu) c.1125C>T c.5185C>T c.2180C>T (p.Pro727Leu) c.8114C>T (p.Pro2705Leu) c.896-29702C>T c.2945C>T (p.Pro982Leu) c.7988C>T (p.Pro2663Leu) n.1917C>T c.8117C>T (p.Pro2706Leu) | ClinVar |
2 | g.73490074A>C | CA427000853 | ALMS1 | c.7734A>C (p.Pro2578=) c.1126A>C c.5186A>C c.2181A>C (p.Pro727=) c.8115A>C (p.Pro2705=) c.896-29701A>C c.2946A>C (p.Pro982=) c.7989A>C (p.Pro2663=) n.1918A>C c.8118A>C (p.Pro2706=) | |
2 | g.73490074A>G | CA427000849 | ALMS1 | c.7734A>G (p.Pro2578=) c.1126A>G c.5186A>G c.2181A>G (p.Pro727=) c.8115A>G (p.Pro2705=) c.896-29701A>G c.2946A>G (p.Pro982=) c.7989A>G (p.Pro2663=) n.1918A>G c.8118A>G (p.Pro2706=) | |
2 | g.73490074A>T | CA427000847 | ALMS1 | c.7734A>T (p.Pro2578=) c.1126A>T c.5186A>T c.2181A>T (p.Pro727=) c.8115A>T (p.Pro2705=) c.896-29701A>T c.2946A>T (p.Pro982=) c.7989A>T (p.Pro2663=) n.1918A>T c.8118A>T (p.Pro2706=) | |
2 | g.73490075G>A | CA347267504 | ALMS1 | c.7735G>A (p.Glu2579Lys) c.1127G>A c.5187G>A c.2182G>A (p.Glu728Lys) c.8116G>A (p.Glu2706Lys) c.896-29700G>A c.2947G>A (p.Glu983Lys) c.7990G>A (p.Glu2664Lys) n.1919G>A c.8119G>A (p.Glu2707Lys) | |
2 | g.73490075G>C | CA347267506 | ALMS1 | c.7735G>C (p.Glu2579Gln) c.1127G>C c.5187G>C c.2182G>C (p.Glu728Gln) c.8116G>C (p.Glu2706Gln) c.896-29700G>C c.2947G>C (p.Glu983Gln) c.7990G>C (p.Glu2664Gln) n.1919G>C c.8119G>C (p.Glu2707Gln) | |
2 | g.73490075G>T | CA347267507 | ALMS1 | c.7735G>T (p.Glu2579Ter) c.1127G>T c.5187G>T c.2182G>T (p.Glu728Ter) c.8116G>T (p.Glu2706Ter) c.896-29700G>T c.2947G>T (p.Glu983Ter) c.7990G>T (p.Glu2664Ter) n.1919G>T c.8119G>T (p.Glu2707Ter) | |
2 | g.73490075_73490077delinsGAA | CA1260981392 | ALMS1 | c.7735_7737delinsGAA (p.Glu2579=) c.1127_1129delinsGAA c.5187_5189delinsGAA c.2182_2184delinsGAA (p.Glu728=) c.8116_8118delinsGAA (p.Glu2706=) c.896-29700_896-29698delinsGAA c.2947_2949delinsGAA (p.Glu983=) c.7990_7992delinsGAA (p.Glu2664=) n.1919_1921delinsGAA c.8119_8121delinsGAA (p.Glu2707=) | |
2 | g.73490076A= | CA1260981398 | ALMS1 | c.7736A= (p.Glu2579=) c.1128A= c.5188A= c.2183A= (p.Glu728=) c.8117A= (p.Glu2706=) c.896-29699A= c.2948A= (p.Glu983=) c.7991A= (p.Glu2664=) n.1920A= c.8120A= (p.Glu2707=) | |
2 | g.73490076A>C | CA347267508 | ALMS1 | c.7736A>C (p.Glu2579Ala) c.1128A>C c.5188A>C c.2183A>C (p.Glu728Ala) c.8117A>C (p.Glu2706Ala) c.896-29699A>C c.2948A>C (p.Glu983Ala) c.7991A>C (p.Glu2664Ala) n.1920A>C c.8120A>C (p.Glu2707Ala) | |
2 | g.73490076A>G | CA1714406 | ALMS1 | c.7736A>G (p.Glu2579Gly) c.1128A>G c.5188A>G c.2183A>G (p.Glu728Gly) c.8117A>G (p.Glu2706Gly) c.896-29699A>G c.2948A>G (p.Glu983Gly) c.7991A>G (p.Glu2664Gly) n.1920A>G c.8120A>G (p.Glu2707Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490076A>T | CA347267510 | ALMS1 | c.7736A>T (p.Glu2579Val) c.1128A>T c.5188A>T c.2183A>T (p.Glu728Val) c.8117A>T (p.Glu2706Val) c.896-29699A>T c.2948A>T (p.Glu983Val) c.7991A>T (p.Glu2664Val) n.1920A>T c.8120A>T (p.Glu2707Val) | |
2 | g.73490076_73490077delinsG | CA915944024 | ALMS1 | c.7736_7737delinsG (p.Glu2579GlyfsTer3) c.1128_1129delinsG c.5188_5189delinsG c.2183_2184delinsG (p.Glu728GlyfsTer3) c.8117_8118delinsG (p.Glu2706GlyfsTer3) c.896-29699_896-29698delinsG c.2948_2949delinsG (p.Glu983GlyfsTer3) c.7991_7992delinsG (p.Glu2664GlyfsTer3) n.1920_1921delinsG c.8120_8121delinsG (p.Glu2707GlyfsTer3) | ClinVar dbSNP |
2 | g.73490077del | CA892865947 | ALMS1 | c.7737del (p.Glu2579AspfsTer3) c.1129del c.5189del c.2184del (p.Glu728AspfsTer3) c.8118del (p.Glu2706AspfsTer3) c.896-29698del c.2949del (p.Glu983AspfsTer3) c.7992del (p.Glu2664AspfsTer3) n.1921del c.8121del (p.Glu2707AspfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490077A= | CA1260981410 | ALMS1 | c.7737A= (p.Glu2579=) c.1129A= c.5189A= c.2184A= (p.Glu728=) c.8118A= (p.Glu2706=) c.896-29698A= c.2949A= (p.Glu983=) c.7992A= (p.Glu2664=) n.1921A= c.8121A= (p.Glu2707=) | |
2 | g.73490077A>C | CA347267512 | ALMS1 | c.7737A>C (p.Glu2579Asp) c.1129A>C c.5189A>C c.2184A>C (p.Glu728Asp) c.8118A>C (p.Glu2706Asp) c.896-29698A>C c.2949A>C (p.Glu983Asp) c.7992A>C (p.Glu2664Asp) n.1921A>C c.8121A>C (p.Glu2707Asp) | |
2 | g.73490077A>G | CA427000864 | ALMS1 | c.7737A>G (p.Glu2579=) c.1129A>G c.5189A>G c.2184A>G (p.Glu728=) c.8118A>G (p.Glu2706=) c.896-29698A>G c.2949A>G (p.Glu983=) c.7992A>G (p.Glu2664=) n.1921A>G c.8121A>G (p.Glu2707=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490077A>T | CA347267513 | ALMS1 | c.7737A>T (p.Glu2579Asp) c.1129A>T c.5189A>T c.2184A>T (p.Glu728Asp) c.8118A>T (p.Glu2706Asp) c.896-29698A>T c.2949A>T (p.Glu983Asp) c.7992A>T (p.Glu2664Asp) n.1921A>T c.8121A>T (p.Glu2707Asp) | |
2 | g.73490078C>A | CA347267515 | ALMS1 | c.7738C>A (p.Pro2580Thr) c.1130C>A c.5190C>A c.2185C>A (p.Pro729Thr) c.8119C>A (p.Pro2707Thr) c.896-29697C>A c.2950C>A (p.Pro984Thr) c.7993C>A (p.Pro2665Thr) n.1922C>A c.8122C>A (p.Pro2708Thr) | |
2 | g.73490078C>G | CA347267516 | ALMS1 | c.7738C>G (p.Pro2580Ala) c.1130C>G c.5190C>G c.2185C>G (p.Pro729Ala) c.8119C>G (p.Pro2707Ala) c.896-29697C>G c.2950C>G (p.Pro984Ala) c.7993C>G (p.Pro2665Ala) n.1922C>G c.8122C>G (p.Pro2708Ala) | |
2 | g.73490078C>T | CA347267518 | ALMS1 | c.7738C>T (p.Pro2580Ser) c.1130C>T c.5190C>T c.2185C>T (p.Pro729Ser) c.8119C>T (p.Pro2707Ser) c.896-29697C>T c.2950C>T (p.Pro984Ser) c.7993C>T (p.Pro2665Ser) n.1922C>T c.8122C>T (p.Pro2708Ser) | |
2 | g.73490079C>A | CA347267521 | ALMS1 | c.7739C>A (p.Pro2580His) c.1131C>A c.5191C>A c.2186C>A (p.Pro729His) c.8120C>A (p.Pro2707His) c.896-29696C>A c.2951C>A (p.Pro984His) c.7994C>A (p.Pro2665His) n.1923C>A c.8123C>A (p.Pro2708His) | |
2 | g.73490079C>G | CA347267523 | ALMS1 | c.7739C>G (p.Pro2580Arg) c.1131C>G c.5191C>G c.2186C>G (p.Pro729Arg) c.8120C>G (p.Pro2707Arg) c.896-29696C>G c.2951C>G (p.Pro984Arg) c.7994C>G (p.Pro2665Arg) n.1923C>G c.8123C>G (p.Pro2708Arg) | |
2 | g.73490079C>T | CA347267525 | ALMS1 | c.7739C>T (p.Pro2580Leu) c.1131C>T c.5191C>T c.2186C>T (p.Pro729Leu) c.8120C>T (p.Pro2707Leu) c.896-29696C>T c.2951C>T (p.Pro984Leu) c.7994C>T (p.Pro2665Leu) n.1923C>T c.8123C>T (p.Pro2708Leu) | gnomAD v4 |
2 | g.73490080C>A | CA427000871 | ALMS1 | c.7740C>A (p.Pro2580=) c.1132C>A c.5192C>A c.2187C>A (p.Pro729=) c.8121C>A (p.Pro2707=) c.896-29695C>A c.2952C>A (p.Pro984=) c.7995C>A (p.Pro2665=) n.1924C>A c.8124C>A (p.Pro2708=) | |
2 | g.73490080C>G | CA427000872 | ALMS1 | c.7740C>G (p.Pro2580=) c.1132C>G c.5192C>G c.2187C>G (p.Pro729=) c.8121C>G (p.Pro2707=) c.896-29695C>G c.2952C>G (p.Pro984=) c.7995C>G (p.Pro2665=) n.1924C>G c.8124C>G (p.Pro2708=) | |
2 | g.73490080C>T | CA427000874 | ALMS1 | c.7740C>T (p.Pro2580=) c.1132C>T c.5192C>T c.2187C>T (p.Pro729=) c.8121C>T (p.Pro2707=) c.896-29695C>T c.2952C>T (p.Pro984=) c.7995C>T (p.Pro2665=) n.1924C>T c.8124C>T (p.Pro2708=) | |
2 | g.73490081A= | CA1260981418 | ALMS1 | c.7741A= (p.Met2581=) c.1133A= c.5193A= c.2188A= (p.Met730=) c.8122A= (p.Met2708=) c.896-29694A= c.2953A= (p.Met985=) c.7996A= (p.Met2666=) n.1925A= c.8125A= (p.Met2709=) | |
2 | g.73490081A>C | CA1714407 | ALMS1 | c.7741A>C (p.Met2581Leu) c.1133A>C c.5193A>C c.2188A>C (p.Met730Leu) c.8122A>C (p.Met2708Leu) c.896-29694A>C c.2953A>C (p.Met985Leu) c.7996A>C (p.Met2666Leu) n.1925A>C c.8125A>C (p.Met2709Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490081A>G | CA347267528 | ALMS1 | c.7741A>G (p.Met2581Val) c.1133A>G c.5193A>G c.2188A>G (p.Met730Val) c.8122A>G (p.Met2708Val) c.896-29694A>G c.2953A>G (p.Met985Val) c.7996A>G (p.Met2666Val) n.1925A>G c.8125A>G (p.Met2709Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490081A>T | CA347267529 | ALMS1 | c.7741A>T (p.Met2581Leu) c.1133A>T c.5193A>T c.2188A>T (p.Met730Leu) c.8122A>T (p.Met2708Leu) c.896-29694A>T c.2953A>T (p.Met985Leu) c.7996A>T (p.Met2666Leu) n.1925A>T c.8125A>T (p.Met2709Leu) | |
2 | g.73490082T>A | CA347267531 | ALMS1 | c.7742T>A (p.Met2581Lys) c.1134T>A c.5194T>A c.2189T>A (p.Met730Lys) c.8123T>A (p.Met2708Lys) c.896-29693T>A c.2954T>A (p.Met985Lys) c.7997T>A (p.Met2666Lys) n.1926T>A c.8126T>A (p.Met2709Lys) | dbSNP |
2 | g.73490082T>C | CA347267533 | ALMS1 | c.7742T>C (p.Met2581Thr) c.1134T>C c.5194T>C c.2189T>C (p.Met730Thr) c.8123T>C (p.Met2708Thr) c.896-29693T>C c.2954T>C (p.Met985Thr) c.7997T>C (p.Met2666Thr) n.1926T>C c.8126T>C (p.Met2709Thr) | ClinVar |
2 | g.73490082T>G | CA347267535 | ALMS1 | c.7742T>G (p.Met2581Arg) c.1134T>G c.5194T>G c.2189T>G (p.Met730Arg) c.8123T>G (p.Met2708Arg) c.896-29693T>G c.2954T>G (p.Met985Arg) c.7997T>G (p.Met2666Arg) n.1926T>G c.8126T>G (p.Met2709Arg) | |
2 | g.73490082T= | CA1260981423 | ALMS1 | c.7742T= (p.Met2581=) c.1134T= c.5194T= c.2189T= (p.Met730=) c.8123T= (p.Met2708=) c.896-29693T= c.2954T= (p.Met985=) c.7997T= (p.Met2666=) n.1926T= c.8126T= (p.Met2709=) | |
2 | g.73490083G>A | CA347267538 | ALMS1 | c.7743G>A (p.Met2581Ile) c.1135G>A c.5195G>A c.2190G>A (p.Met730Ile) c.8124G>A (p.Met2708Ile) c.896-29692G>A c.2955G>A (p.Met985Ile) c.7998G>A (p.Met2666Ile) n.1927G>A c.8127G>A (p.Met2709Ile) | |
2 | g.73490083G>C | CA347267541 | ALMS1 | c.7743G>C (p.Met2581Ile) c.1135G>C c.5195G>C c.2190G>C (p.Met730Ile) c.8124G>C (p.Met2708Ile) c.896-29692G>C c.2955G>C (p.Met985Ile) c.7998G>C (p.Met2666Ile) n.1927G>C c.8127G>C (p.Met2709Ile) | |
2 | g.73490083G= | CA1260981426 | ALMS1 | c.7743G= (p.Met2581=) c.1135G= c.5195G= c.2190G= (p.Met730=) c.8124G= (p.Met2708=) c.896-29692G= c.2955G= (p.Met985=) c.7998G= (p.Met2666=) n.1927G= c.8127G= (p.Met2709=) | |
2 | g.73490083G>T | CA50378083 | ALMS1 | c.7743G>T (p.Met2581Ile) c.1135G>T c.5195G>T c.2190G>T (p.Met730Ile) c.8124G>T (p.Met2708Ile) c.896-29692G>T c.2955G>T (p.Met985Ile) c.7998G>T (p.Met2666Ile) n.1927G>T c.8127G>T (p.Met2709Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490084A= | CA1260981429 | ALMS1 | c.7744A= (p.Lys2582=) c.1136A= c.5196A= c.2191A= (p.Lys731=) c.8125A= (p.Lys2709=) c.896-29691A= c.2956A= (p.Lys986=) c.7999A= (p.Lys2667=) n.1928A= c.8128A= (p.Lys2710=) | |
2 | g.73490084A>C | CA347267544 | ALMS1 | c.7744A>C (p.Lys2582Gln) c.1136A>C c.5196A>C c.2191A>C (p.Lys731Gln) c.8125A>C (p.Lys2709Gln) c.896-29691A>C c.2956A>C (p.Lys986Gln) c.7999A>C (p.Lys2667Gln) n.1928A>C c.8128A>C (p.Lys2710Gln) | |
2 | g.73490084A>G | CA50378087 | ALMS1 | c.7744A>G (p.Lys2582Glu) c.1136A>G c.5196A>G c.2191A>G (p.Lys731Glu) c.8125A>G (p.Lys2709Glu) c.896-29691A>G c.2956A>G (p.Lys986Glu) c.7999A>G (p.Lys2667Glu) n.1928A>G c.8128A>G (p.Lys2710Glu) | dbSNP |
2 | g.73490084A>T | CA347267545 | ALMS1 | c.7744A>T (p.Lys2582Ter) c.1136A>T c.5196A>T c.2191A>T (p.Lys731Ter) c.8125A>T (p.Lys2709Ter) c.896-29691A>T c.2956A>T (p.Lys986Ter) c.7999A>T (p.Lys2667Ter) n.1928A>T c.8128A>T (p.Lys2710Ter) | |
2 | g.73490088del | CA2580068233 | ALMS1 | c.7748del (p.Lys2583SerfsTer?) c.1140del c.5200del c.2195del (p.Lys732SerfsTer?) c.8129del (p.Lys2710SerfsTer?) c.896-29687del c.2960del (p.Lys987SerfsTer?) c.8003del (p.Lys2668SerfsTer?) n.1932del c.8132del (p.Lys2711SerfsTer?) | ClinVar |
2 | g.73490085A= | CA1260981431 | ALMS1 | c.7745A= (p.Lys2582=) c.1137A= c.5197A= c.2192A= (p.Lys731=) c.8126A= (p.Lys2709=) c.896-29690A= c.2957A= (p.Lys986=) c.8000A= (p.Lys2667=) n.1929A= c.8129A= (p.Lys2710=) | |
2 | g.73490085A>C | CA347267546 | ALMS1 | c.7745A>C (p.Lys2582Thr) c.1137A>C c.5197A>C c.2192A>C (p.Lys731Thr) c.8126A>C (p.Lys2709Thr) c.896-29690A>C c.2957A>C (p.Lys986Thr) c.8000A>C (p.Lys2667Thr) n.1929A>C c.8129A>C (p.Lys2710Thr) | |
2 | g.73490085A>G | CA1714408 | ALMS1 | c.7745A>G (p.Lys2582Arg) c.1137A>G c.5197A>G c.2192A>G (p.Lys731Arg) c.8126A>G (p.Lys2709Arg) c.896-29690A>G c.2957A>G (p.Lys986Arg) c.8000A>G (p.Lys2667Arg) n.1929A>G c.8129A>G (p.Lys2710Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490085A>T | CA347267547 | ALMS1 | c.7745A>T (p.Lys2582Ile) c.1137A>T c.5197A>T c.2192A>T (p.Lys731Ile) c.8126A>T (p.Lys2709Ile) c.896-29690A>T c.2957A>T (p.Lys986Ile) c.8000A>T (p.Lys2667Ile) n.1929A>T c.8129A>T (p.Lys2710Ile) | |
2 | g.73490086A= | CA1260981434 | ALMS1 | c.7746A= (p.Lys2582=) c.1138A= c.5198A= c.2193A= (p.Lys731=) c.8127A= (p.Lys2709=) c.896-29689A= c.2958A= (p.Lys986=) c.8001A= (p.Lys2667=) n.1930A= c.8130A= (p.Lys2710=) | |
2 | g.73490086A>C | CA347267550 | ALMS1 | c.7746A>C (p.Lys2582Asn) c.1138A>C c.5198A>C c.2193A>C (p.Lys731Asn) c.8127A>C (p.Lys2709Asn) c.896-29689A>C c.2958A>C (p.Lys986Asn) c.8001A>C (p.Lys2667Asn) n.1930A>C c.8130A>C (p.Lys2710Asn) | |
2 | g.73490086A>G | CA1714409 | ALMS1 | c.7746A>G (p.Lys2582=) c.1138A>G c.5198A>G c.2193A>G (p.Lys731=) c.8127A>G (p.Lys2709=) c.896-29689A>G c.2958A>G (p.Lys986=) c.8001A>G (p.Lys2667=) n.1930A>G c.8130A>G (p.Lys2710=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490086A>T | CA347267553 | ALMS1 | c.7746A>T (p.Lys2582Asn) c.1138A>T c.5198A>T c.2193A>T (p.Lys731Asn) c.8127A>T (p.Lys2709Asn) c.896-29689A>T c.2958A>T (p.Lys986Asn) c.8001A>T (p.Lys2667Asn) n.1930A>T c.8130A>T (p.Lys2710Asn) | |
2 | g.73490087A>C | CA347267554 | ALMS1 | c.7747A>C (p.Lys2583Gln) c.1139A>C c.5199A>C c.2194A>C (p.Lys732Gln) c.8128A>C (p.Lys2710Gln) c.896-29688A>C c.2959A>C (p.Lys987Gln) c.8002A>C (p.Lys2668Gln) n.1931A>C c.8131A>C (p.Lys2711Gln) | |
2 | g.73490087A>G | CA347267555 | ALMS1 | c.7747A>G (p.Lys2583Glu) c.1139A>G c.5199A>G c.2194A>G (p.Lys732Glu) c.8128A>G (p.Lys2710Glu) c.896-29688A>G c.2959A>G (p.Lys987Glu) c.8002A>G (p.Lys2668Glu) n.1931A>G c.8131A>G (p.Lys2711Glu) | |
2 | g.73490087A>T | CA347267557 | ALMS1 | c.7747A>T (p.Lys2583Ter) c.1139A>T c.5199A>T c.2194A>T (p.Lys732Ter) c.8128A>T (p.Lys2710Ter) c.896-29688A>T c.2959A>T (p.Lys987Ter) c.8002A>T (p.Lys2668Ter) n.1931A>T c.8131A>T (p.Lys2711Ter) | |
2 | g.73490088A= | CA1260981438 | ALMS1 | c.7748A= (p.Lys2583=) c.1140A= c.5200A= c.2195A= (p.Lys732=) c.8129A= (p.Lys2710=) c.896-29687A= c.2960A= (p.Lys987=) c.8003A= (p.Lys2668=) n.1932A= c.8132A= (p.Lys2711=) | |
2 | g.73490088A>C | CA347267562 | ALMS1 | c.7748A>C (p.Lys2583Thr) c.1140A>C c.5200A>C c.2195A>C (p.Lys732Thr) c.8129A>C (p.Lys2710Thr) c.896-29687A>C c.2960A>C (p.Lys987Thr) c.8003A>C (p.Lys2668Thr) n.1932A>C c.8132A>C (p.Lys2711Thr) | |
2 | g.73490088A>G | CA1714410 | ALMS1 | c.7748A>G (p.Lys2583Arg) c.1140A>G c.5200A>G c.2195A>G (p.Lys732Arg) c.8129A>G (p.Lys2710Arg) c.896-29687A>G c.2960A>G (p.Lys987Arg) c.8003A>G (p.Lys2668Arg) n.1932A>G c.8132A>G (p.Lys2711Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490088A>T | CA347267561 | ALMS1 | c.7748A>T (p.Lys2583Met) c.1140A>T c.5200A>T c.2195A>T (p.Lys732Met) c.8129A>T (p.Lys2710Met) c.896-29687A>T c.2960A>T (p.Lys987Met) c.8003A>T (p.Lys2668Met) n.1932A>T c.8132A>T (p.Lys2711Met) | gnomAD v4 |
2 | g.73490089G>A | CA1714411 | ALMS1 | c.7749G>A (p.Lys2583=) c.1141G>A c.5201G>A c.2196G>A (p.Lys732=) c.8130G>A (p.Lys2710=) c.896-29686G>A c.2961G>A (p.Lys987=) c.8004G>A (p.Lys2668=) n.1933G>A c.8133G>A (p.Lys2711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490089G>C | CA347267566 | ALMS1 | c.7749G>C (p.Lys2583Asn) c.1141G>C c.5201G>C c.2196G>C (p.Lys732Asn) c.8130G>C (p.Lys2710Asn) c.896-29686G>C c.2961G>C (p.Lys987Asn) c.8004G>C (p.Lys2668Asn) n.1933G>C c.8133G>C (p.Lys2711Asn) | |
2 | g.73490089G= | CA1260981445 | ALMS1 | c.7749G= (p.Lys2583=) c.1141G= c.5201G= c.2196G= (p.Lys732=) c.8130G= (p.Lys2710=) c.896-29686G= c.2961G= (p.Lys987=) c.8004G= (p.Lys2668=) n.1933G= c.8133G= (p.Lys2711=) | |
2 | g.73490089G>T | CA347267568 | ALMS1 | c.7749G>T (p.Lys2583Asn) c.1141G>T c.5201G>T c.2196G>T (p.Lys732Asn) c.8130G>T (p.Lys2710Asn) c.896-29686G>T c.2961G>T (p.Lys987Asn) c.8004G>T (p.Lys2668Asn) n.1933G>T c.8133G>T (p.Lys2711Asn) | |
2 | g.73490089_73490090del | CA913090804 | ALMS1 | c.7749_7750del (p.Lys2583AsnfsTer14) c.1141_1142del c.5201_5202del c.2196_2197del (p.Lys732AsnfsTer14) c.8130_8131del (p.Lys2710AsnfsTer14) c.896-29686_896-29685del c.2961_2962del (p.Lys987AsnfsTer14) c.8004_8005del (p.Lys2668AsnfsTer14) n.1933_1934del c.8133_8134del (p.Lys2711AsnfsTer14) | |
2 | g.73490089_73490090delinsGT | CA1260981444 | ALMS1 | c.7749_7750delinsGT (p.Lys2583=) c.1141_1142delinsGT c.5201_5202delinsGT c.2196_2197delinsGT (p.Lys732=) c.8130_8131delinsGT (p.Lys2710=) c.896-29686_896-29685delinsGT c.2961_2962delinsGT (p.Lys987=) c.8004_8005delinsGT (p.Lys2668=) n.1933_1934delinsGT c.8133_8134delinsGT (p.Lys2711=) | |
2 | g.73490090T>A | CA347267574 | ALMS1 | c.7750T>A (p.Phe2584Ile) c.1142T>A c.5202T>A c.2197T>A (p.Phe733Ile) c.8131T>A (p.Phe2711Ile) c.896-29685T>A c.2962T>A (p.Phe988Ile) c.8005T>A (p.Phe2669Ile) n.1934T>A c.8134T>A (p.Phe2712Ile) | |
2 | g.73490090T>C | CA50378099 | ALMS1 | c.7750T>C (p.Phe2584Leu) c.1142T>C c.5202T>C c.2197T>C (p.Phe733Leu) c.8131T>C (p.Phe2711Leu) c.896-29685T>C c.2962T>C (p.Phe988Leu) c.8005T>C (p.Phe2669Leu) n.1934T>C c.8134T>C (p.Phe2712Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490090T>G | CA347267577 | ALMS1 | c.7750T>G (p.Phe2584Val) c.1142T>G c.5202T>G c.2197T>G (p.Phe733Val) c.8131T>G (p.Phe2711Val) c.896-29685T>G c.2962T>G (p.Phe988Val) c.8005T>G (p.Phe2669Val) n.1934T>G c.8134T>G (p.Phe2712Val) | |
2 | g.73490090T= | CA1260981452 | ALMS1 | c.7750T= (p.Phe2584=) c.1142T= c.5202T= c.2197T= (p.Phe733=) c.8131T= (p.Phe2711=) c.896-29685T= c.2962T= (p.Phe988=) c.8005T= (p.Phe2669=) n.1934T= c.8134T= (p.Phe2712=) | |
2 | g.73490092dup | CA2750465615 | ALMS1 | c.7752dup (p.Thr2585TyrfsTer13) c.1144dup c.5204dup c.2199dup (p.Thr734TyrfsTer13) c.8133dup (p.Thr2712TyrfsTer13) c.896-29683dup c.2964dup (p.Thr989TyrfsTer13) c.8007dup (p.Thr2670TyrfsTer13) n.1936dup c.8136dup (p.Thr2713TyrfsTer13) | |
2 | g.73490092del | CA658821974 | ALMS1 | c.7752del (p.Phe2584LeufsTer?) c.1144del c.5204del c.2199del (p.Phe733LeufsTer?) c.8133del (p.Phe2711LeufsTer?) c.896-29683del c.2964del (p.Phe988LeufsTer?) c.8007del (p.Phe2669LeufsTer?) n.1936del c.8136del (p.Phe2712LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490090_73490091insGA | CA2830535121 | ALMS1 | c.7750_7751insGA (p.Phe2584Ter) c.1142_1143insGA c.5202_5203insGA c.2197_2198insGA (p.Phe733Ter) c.8131_8132insGA (p.Phe2711Ter) c.896-29685_896-29684insGA c.2962_2963insGA (p.Phe988Ter) c.8005_8006insGA (p.Phe2669Ter) n.1934_1935insGA c.8134_8135insGA (p.Phe2712Ter) | |
2 | g.73490091T>A | CA347267580 | ALMS1 | c.7751T>A (p.Phe2584Tyr) c.1143T>A c.5203T>A c.2198T>A (p.Phe733Tyr) c.8132T>A (p.Phe2711Tyr) c.896-29684T>A c.2963T>A (p.Phe988Tyr) c.8006T>A (p.Phe2669Tyr) n.1935T>A c.8135T>A (p.Phe2712Tyr) | gnomAD v4 |
2 | g.73490091T>C | CA347267581 | ALMS1 | c.7751T>C (p.Phe2584Ser) c.1143T>C c.5203T>C c.2198T>C (p.Phe733Ser) c.8132T>C (p.Phe2711Ser) c.896-29684T>C c.2963T>C (p.Phe988Ser) c.8006T>C (p.Phe2669Ser) n.1935T>C c.8135T>C (p.Phe2712Ser) | |
2 | g.73490091T>G | CA347267582 | ALMS1 | c.7751T>G (p.Phe2584Cys) c.1143T>G c.5203T>G c.2198T>G (p.Phe733Cys) c.8132T>G (p.Phe2711Cys) c.896-29684T>G c.2963T>G (p.Phe988Cys) c.8006T>G (p.Phe2669Cys) n.1935T>G c.8135T>G (p.Phe2712Cys) | |
2 | g.73490091_73490092insGGAGG | CA2830535124 | ALMS1 | c.7751_7752insGGAGG (p.Phe2584LeufsTer?) c.1143_1144insGGAGG c.5203_5204insGGAGG c.2198_2199insGGAGG (p.Phe733LeufsTer?) c.8132_8133insGGAGG (p.Phe2711LeufsTer?) c.896-29684_896-29683insGGAGG c.2963_2964insGGAGG (p.Phe988LeufsTer?) c.8006_8007insGGAGG (p.Phe2669LeufsTer?) n.1935_1936insGGAGG c.8135_8136insGGAGG (p.Phe2712LeufsTer?) | |
2 | g.73490092T>A | CA347267583 | ALMS1 | c.7752T>A (p.Phe2584Leu) c.1144T>A c.5204T>A c.2199T>A (p.Phe733Leu) c.8133T>A (p.Phe2711Leu) c.896-29683T>A c.2964T>A (p.Phe988Leu) c.8007T>A (p.Phe2669Leu) n.1936T>A c.8136T>A (p.Phe2712Leu) | |
2 | g.73490092T>C | CA427000903 | ALMS1 | c.7752T>C (p.Phe2584=) c.1144T>C c.5204T>C c.2199T>C (p.Phe733=) c.8133T>C (p.Phe2711=) c.896-29683T>C c.2964T>C (p.Phe988=) c.8007T>C (p.Phe2669=) n.1936T>C c.8136T>C (p.Phe2712=) | |
2 | g.73490092T>G | CA347267584 | ALMS1 | c.7752T>G (p.Phe2584Leu) c.1144T>G c.5204T>G c.2199T>G (p.Phe733Leu) c.8133T>G (p.Phe2711Leu) c.896-29683T>G c.2964T>G (p.Phe988Leu) c.8007T>G (p.Phe2669Leu) n.1936T>G c.8136T>G (p.Phe2712Leu) | |
2 | g.73490093A= | CA1260981455 | ALMS1 | c.7753A= (p.Thr2585=) c.1145A= c.5205A= c.2200A= (p.Thr734=) c.8134A= (p.Thr2712=) c.896-29682A= c.2965A= (p.Thr989=) c.8008A= (p.Thr2670=) n.1937A= c.8137A= (p.Thr2713=) | |
2 | g.73490093A>C | CA347267588 | ALMS1 | c.7753A>C (p.Thr2585Pro) c.1145A>C c.5205A>C c.2200A>C (p.Thr734Pro) c.8134A>C (p.Thr2712Pro) c.896-29682A>C c.2965A>C (p.Thr989Pro) c.8008A>C (p.Thr2670Pro) n.1937A>C c.8137A>C (p.Thr2713Pro) | |
2 | g.73490093A>G | CA1714412 | ALMS1 | c.7753A>G (p.Thr2585Ala) c.1145A>G c.5205A>G c.2200A>G (p.Thr734Ala) c.8134A>G (p.Thr2712Ala) c.896-29682A>G c.2965A>G (p.Thr989Ala) c.8008A>G (p.Thr2670Ala) n.1937A>G c.8137A>G (p.Thr2713Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490093A>T | CA347267586 | ALMS1 | c.7753A>T (p.Thr2585Ser) c.1145A>T c.5205A>T c.2200A>T (p.Thr734Ser) c.8134A>T (p.Thr2712Ser) c.896-29682A>T c.2965A>T (p.Thr989Ser) c.8008A>T (p.Thr2670Ser) n.1937A>T c.8137A>T (p.Thr2713Ser) | |
2 | g.73490094C>A | CA347267603 | ALMS1 | c.7754C>A (p.Thr2585Asn) c.1146C>A c.5206C>A c.2201C>A (p.Thr734Asn) c.8135C>A (p.Thr2712Asn) c.896-29681C>A c.2966C>A (p.Thr989Asn) c.8009C>A (p.Thr2670Asn) n.1938C>A c.8138C>A (p.Thr2713Asn) | |
2 | g.73490094C>G | CA347267592 | ALMS1 | c.7754C>G (p.Thr2585Ser) c.1146C>G c.5206C>G c.2201C>G (p.Thr734Ser) c.8135C>G (p.Thr2712Ser) c.896-29681C>G c.2966C>G (p.Thr989Ser) c.8009C>G (p.Thr2670Ser) n.1938C>G c.8138C>G (p.Thr2713Ser) | dbSNP gnomAD v4 |
2 | g.73490094C>T | CA347267600 | ALMS1 | c.7754C>T (p.Thr2585Ile) c.1146C>T c.5206C>T c.2201C>T (p.Thr734Ile) c.8135C>T (p.Thr2712Ile) c.896-29681C>T c.2966C>T (p.Thr989Ile) c.8009C>T (p.Thr2670Ile) n.1938C>T c.8138C>T (p.Thr2713Ile) | ClinVar |
2 | g.73490095T>A | CA427000911 | ALMS1 | c.7755T>A (p.Thr2585=) c.1147T>A c.5207T>A c.2202T>A (p.Thr734=) c.8136T>A (p.Thr2712=) c.896-29680T>A c.2967T>A (p.Thr989=) c.8010T>A (p.Thr2670=) n.1939T>A c.8139T>A (p.Thr2713=) | gnomAD v4 |
2 | g.73490095T>C | CA427000913 | ALMS1 | c.7755T>C (p.Thr2585=) c.1147T>C c.5207T>C c.2202T>C (p.Thr734=) c.8136T>C (p.Thr2712=) c.896-29680T>C c.2967T>C (p.Thr989=) c.8010T>C (p.Thr2670=) n.1939T>C c.8139T>C (p.Thr2713=) | |
2 | g.73490095T>G | CA427000914 | ALMS1 | c.7755T>G (p.Thr2585=) c.1147T>G c.5207T>G c.2202T>G (p.Thr734=) c.8136T>G (p.Thr2712=) c.896-29680T>G c.2967T>G (p.Thr989=) c.8010T>G (p.Thr2670=) n.1939T>G c.8139T>G (p.Thr2713=) | |
2 | g.73490096A= | CA1260981458 | ALMS1 | c.7756A= (p.Thr2586=) c.1148A= c.5208A= c.2203A= (p.Thr735=) c.8137A= (p.Thr2713=) c.896-29679A= c.2968A= (p.Thr990=) c.8011A= (p.Thr2671=) n.1940A= c.8140A= (p.Thr2714=) | |
2 | g.73490096A>C | CA347267607 | ALMS1 | c.7756A>C (p.Thr2586Pro) c.1148A>C c.5208A>C c.2203A>C (p.Thr735Pro) c.8137A>C (p.Thr2713Pro) c.896-29679A>C c.2968A>C (p.Thr990Pro) c.8011A>C (p.Thr2671Pro) n.1940A>C c.8140A>C (p.Thr2714Pro) | |
2 | g.73490096A>G | CA1714413 | ALMS1 | c.7756A>G (p.Thr2586Ala) c.1148A>G c.5208A>G c.2203A>G (p.Thr735Ala) c.8137A>G (p.Thr2713Ala) c.896-29679A>G c.2968A>G (p.Thr990Ala) c.8011A>G (p.Thr2671Ala) n.1940A>G c.8140A>G (p.Thr2714Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490096A>T | CA347267621 | ALMS1 | c.7756A>T (p.Thr2586Ser) c.1148A>T c.5208A>T c.2203A>T (p.Thr735Ser) c.8137A>T (p.Thr2713Ser) c.896-29679A>T c.2968A>T (p.Thr990Ser) c.8011A>T (p.Thr2671Ser) n.1940A>T c.8140A>T (p.Thr2714Ser) | |
2 | g.73490098_73490106del | CA913090805 | ALMS1 | c.7758_7766del (p.Ser2587_Thr2589del) c.1150_1158del c.5210_5218del c.2205_2213del (p.Ser736_Thr738del) c.8139_8147del (p.Ser2714_Thr2716del) c.896-29677_896-29669del c.2970_2978del (p.Ser991_Thr993del) c.8013_8021del (p.Ser2672_Thr2674del) n.1942_1950del c.8142_8150del (p.Ser2715_Thr2717del) | |
2 | g.73490097C>A | CA347267628 | ALMS1 | c.7757C>A (p.Thr2586Asn) c.1149C>A c.5209C>A c.2204C>A (p.Thr735Asn) c.8138C>A (p.Thr2713Asn) c.896-29678C>A c.2969C>A (p.Thr990Asn) c.8012C>A (p.Thr2671Asn) n.1941C>A c.8141C>A (p.Thr2714Asn) | |
2 | g.73490097C= | CA1260981463 | ALMS1 | c.7757C= (p.Thr2586=) c.1149C= c.5209C= c.2204C= (p.Thr735=) c.8138C= (p.Thr2713=) c.896-29678C= c.2969C= (p.Thr990=) c.8012C= (p.Thr2671=) n.1941C= c.8141C= (p.Thr2714=) | |
2 | g.73490097C>G | CA347267627 | ALMS1 | c.7757C>G (p.Thr2586Ser) c.1149C>G c.5209C>G c.2204C>G (p.Thr735Ser) c.8138C>G (p.Thr2713Ser) c.896-29678C>G c.2969C>G (p.Thr990Ser) c.8012C>G (p.Thr2671Ser) n.1941C>G c.8141C>G (p.Thr2714Ser) | |
2 | g.73490097C>T | CA347267624 | ALMS1 | c.7757C>T (p.Thr2586Ile) c.1149C>T c.5209C>T c.2204C>T (p.Thr735Ile) c.8138C>T (p.Thr2713Ile) c.896-29678C>T c.2969C>T (p.Thr990Ile) c.8012C>T (p.Thr2671Ile) n.1941C>T c.8141C>T (p.Thr2714Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490097_73490101del | CA2830535128 | ALMS1 | c.7757_7761del (p.Thr2586AsnfsTer10) c.1149_1153del c.5209_5213del c.2204_2208del (p.Thr735AsnfsTer10) c.8138_8142del (p.Thr2713AsnfsTer10) c.896-29678_896-29674del c.2969_2973del (p.Thr990AsnfsTer10) c.8012_8016del (p.Thr2671AsnfsTer10) n.1941_1945del c.8141_8145del (p.Thr2714AsnfsTer10) | |
2 | g.73490097_73490105delinsCCTCCATCA | CA1260981461 | ALMS1 | c.7757_7765delinsCCTCCATCA (p.Thr2586=) c.1149_1157delinsCCTCCATCA c.5209_5217delinsCCTCCATCA c.2204_2212delinsCCTCCATCA (p.Thr735=) c.8138_8146delinsCCTCCATCA (p.Thr2713=) c.896-29678_896-29670delinsCCTCCATCA c.2969_2977delinsCCTCCATCA (p.Thr990=) c.8012_8020delinsCCTCCATCA (p.Thr2671=) n.1941_1949delinsCCTCCATCA c.8141_8149delinsCCTCCATCA (p.Thr2714=) | |
2 | g.73490098C>A | CA427000922 | ALMS1 | c.7758C>A (p.Thr2586=) c.1150C>A c.5210C>A c.2205C>A (p.Thr735=) c.8139C>A (p.Thr2713=) c.896-29677C>A c.2970C>A (p.Thr990=) c.8013C>A (p.Thr2671=) n.1942C>A c.8142C>A (p.Thr2714=) | |
2 | g.73490098C>G | CA427000920 | ALMS1 | c.7758C>G (p.Thr2586=) c.1150C>G c.5210C>G c.2205C>G (p.Thr735=) c.8139C>G (p.Thr2713=) c.896-29677C>G c.2970C>G (p.Thr990=) c.8013C>G (p.Thr2671=) n.1942C>G c.8142C>G (p.Thr2714=) | |
2 | g.73490098C>T | CA427000921 | ALMS1 | c.7758C>T (p.Thr2586=) c.1150C>T c.5210C>T c.2205C>T (p.Thr735=) c.8139C>T (p.Thr2713=) c.896-29677C>T c.2970C>T (p.Thr990=) c.8013C>T (p.Thr2671=) n.1942C>T c.8142C>T (p.Thr2714=) | ClinVar dbSNP |
2 | g.73490100_73490107del | CA658821975 | ALMS1 | c.7760_7767del (p.Ser2587PhefsTer8) c.1152_1159del c.5212_5219del c.2207_2214del (p.Ser736PhefsTer8) c.8141_8148del (p.Ser2714PhefsTer8) c.896-29675_896-29668del c.2972_2979del (p.Ser991PhefsTer8) c.8015_8022del (p.Ser2672PhefsTer8) n.1944_1951del c.8144_8151del (p.Ser2715PhefsTer8) | ClinVar dbSNP |
2 | g.73490099T>A | CA347267631 | ALMS1 | c.7759T>A (p.Ser2587Thr) c.1151T>A c.5211T>A c.2206T>A (p.Ser736Thr) c.8140T>A (p.Ser2714Thr) c.896-29676T>A c.2971T>A (p.Ser991Thr) c.8014T>A (p.Ser2672Thr) n.1943T>A c.8143T>A (p.Ser2715Thr) | gnomAD v4 |
2 | g.73490099T>C | CA347267633 | ALMS1 | c.7759T>C (p.Ser2587Pro) c.1151T>C c.5211T>C c.2206T>C (p.Ser736Pro) c.8140T>C (p.Ser2714Pro) c.896-29676T>C c.2971T>C (p.Ser991Pro) c.8014T>C (p.Ser2672Pro) n.1943T>C c.8143T>C (p.Ser2715Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490099T>G | CA347267635 | ALMS1 | c.7759T>G (p.Ser2587Ala) c.1151T>G c.5211T>G c.2206T>G (p.Ser736Ala) c.8140T>G (p.Ser2714Ala) c.896-29676T>G c.2971T>G (p.Ser991Ala) c.8014T>G (p.Ser2672Ala) n.1943T>G c.8143T>G (p.Ser2715Ala) | |
2 | g.73490099T= | CA1260981470 | ALMS1 | c.7759T= (p.Ser2587=) c.1151T= c.5211T= c.2206T= (p.Ser736=) c.8140T= (p.Ser2714=) c.896-29676T= c.2971T= (p.Ser991=) c.8014T= (p.Ser2672=) n.1943T= c.8143T= (p.Ser2715=) | |
2 | g.73490100C>A | CA347267637 | ALMS1 | c.7760C>A (p.Ser2587Tyr) c.1152C>A c.5212C>A c.2207C>A (p.Ser736Tyr) c.8141C>A (p.Ser2714Tyr) c.896-29675C>A c.2972C>A (p.Ser991Tyr) c.8015C>A (p.Ser2672Tyr) n.1944C>A c.8144C>A (p.Ser2715Tyr) | |
2 | g.73490100C>G | CA347267640 | ALMS1 | c.7760C>G (p.Ser2587Cys) c.1152C>G c.5212C>G c.2207C>G (p.Ser736Cys) c.8141C>G (p.Ser2714Cys) c.896-29675C>G c.2972C>G (p.Ser991Cys) c.8015C>G (p.Ser2672Cys) n.1944C>G c.8144C>G (p.Ser2715Cys) | |
2 | g.73490100C>T | CA347267642 | ALMS1 | c.7760C>T (p.Ser2587Phe) c.1152C>T c.5212C>T c.2207C>T (p.Ser736Phe) c.8141C>T (p.Ser2714Phe) c.896-29675C>T c.2972C>T (p.Ser991Phe) c.8015C>T (p.Ser2672Phe) n.1944C>T c.8144C>T (p.Ser2715Phe) | |
2 | g.73490101C>A | CA427000943 | ALMS1 | c.7761C>A (p.Ser2587=) c.1153C>A c.5213C>A c.2208C>A (p.Ser736=) c.8142C>A (p.Ser2714=) c.896-29674C>A c.2973C>A (p.Ser991=) c.8016C>A (p.Ser2672=) n.1945C>A c.8145C>A (p.Ser2715=) | |
2 | g.73490101C= | CA1260981474 | ALMS1 | c.7761C= (p.Ser2587=) c.1153C= c.5213C= c.2208C= (p.Ser736=) c.8142C= (p.Ser2714=) c.896-29674C= c.2973C= (p.Ser991=) c.8016C= (p.Ser2672=) n.1945C= c.8145C= (p.Ser2715=) | |
2 | g.73490101C>G | CA427000944 | ALMS1 | c.7761C>G (p.Ser2587=) c.1153C>G c.5213C>G c.2208C>G (p.Ser736=) c.8142C>G (p.Ser2714=) c.896-29674C>G c.2973C>G (p.Ser991=) c.8016C>G (p.Ser2672=) n.1945C>G c.8145C>G (p.Ser2715=) | dbSNP |
2 | g.73490101C>T | CA427000946 | ALMS1 | c.7761C>T (p.Ser2587=) c.1153C>T c.5213C>T c.2208C>T (p.Ser736=) c.8142C>T (p.Ser2714=) c.896-29674C>T c.2973C>T (p.Ser991=) c.8016C>T (p.Ser2672=) n.1945C>T c.8145C>T (p.Ser2715=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490102A= | CA1260981479 | ALMS1 | c.7762A= (p.Ile2588=) c.1154A= c.5214A= c.2209A= (p.Ile737=) c.8143A= (p.Ile2715=) c.896-29673A= c.2974A= (p.Ile992=) c.8017A= (p.Ile2673=) n.1946A= c.8146A= (p.Ile2716=) | |
2 | g.73490102A>C | CA347267644 | ALMS1 | c.7762A>C (p.Ile2588Leu) c.1154A>C c.5214A>C c.2209A>C (p.Ile737Leu) c.8143A>C (p.Ile2715Leu) c.896-29673A>C c.2974A>C (p.Ile992Leu) c.8017A>C (p.Ile2673Leu) n.1946A>C c.8146A>C (p.Ile2716Leu) | |
2 | g.73490102A>G | CA1714414 | ALMS1 | c.7762A>G (p.Ile2588Val) c.1154A>G c.5214A>G c.2209A>G (p.Ile737Val) c.8143A>G (p.Ile2715Val) c.896-29673A>G c.2974A>G (p.Ile992Val) c.8017A>G (p.Ile2673Val) n.1946A>G c.8146A>G (p.Ile2716Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490102A>T | CA347267643 | ALMS1 | c.7762A>T (p.Ile2588Phe) c.1154A>T c.5214A>T c.2209A>T (p.Ile737Phe) c.8143A>T (p.Ile2715Phe) c.896-29673A>T c.2974A>T (p.Ile992Phe) c.8017A>T (p.Ile2673Phe) n.1946A>T c.8146A>T (p.Ile2716Phe) | gnomAD v4 |
2 | g.73490103T>A | CA347267647 | ALMS1 | c.7763T>A (p.Ile2588Asn) c.1155T>A c.5215T>A c.2210T>A (p.Ile737Asn) c.8144T>A (p.Ile2715Asn) c.896-29672T>A c.2975T>A (p.Ile992Asn) c.8018T>A (p.Ile2673Asn) n.1947T>A c.8147T>A (p.Ile2716Asn) | |
2 | g.73490103T>C | CA347267650 | ALMS1 | c.7763T>C (p.Ile2588Thr) c.1155T>C c.5215T>C c.2210T>C (p.Ile737Thr) c.8144T>C (p.Ile2715Thr) c.896-29672T>C c.2975T>C (p.Ile992Thr) c.8018T>C (p.Ile2673Thr) n.1947T>C c.8147T>C (p.Ile2716Thr) | |
2 | g.73490103T>G | CA347267651 | ALMS1 | c.7763T>G (p.Ile2588Ser) c.1155T>G c.5215T>G c.2210T>G (p.Ile737Ser) c.8144T>G (p.Ile2715Ser) c.896-29672T>G c.2975T>G (p.Ile992Ser) c.8018T>G (p.Ile2673Ser) n.1947T>G c.8147T>G (p.Ile2716Ser) | |
2 | g.73490103_73490104del | CA2830535129 | ALMS1 | c.7763_7764del (p.Ile2588AsnfsTer9) c.1155_1156del c.5215_5216del c.2210_2211del (p.Ile737AsnfsTer9) c.8144_8145del (p.Ile2715AsnfsTer9) c.896-29672_896-29671del c.2975_2976del (p.Ile992AsnfsTer9) c.8018_8019del (p.Ile2673AsnfsTer9) n.1947_1948del c.8147_8148del (p.Ile2716AsnfsTer9) | |
2 | g.73490104C>A | CA427000954 | ALMS1 | c.7764C>A (p.Ile2588=) c.1156C>A c.5216C>A c.2211C>A (p.Ile737=) c.8145C>A (p.Ile2715=) c.896-29671C>A c.2976C>A (p.Ile992=) c.8019C>A (p.Ile2673=) n.1948C>A c.8148C>A (p.Ile2716=) | |
2 | g.73490104C>G | CA347267653 | ALMS1 | c.7764C>G (p.Ile2588Met) c.1156C>G c.5216C>G c.2211C>G (p.Ile737Met) c.8145C>G (p.Ile2715Met) c.896-29671C>G c.2976C>G (p.Ile992Met) c.8019C>G (p.Ile2673Met) n.1948C>G c.8148C>G (p.Ile2716Met) | |
2 | g.73490104C>T | CA427000953 | ALMS1 | c.7764C>T (p.Ile2588=) c.1156C>T c.5216C>T c.2211C>T (p.Ile737=) c.8145C>T (p.Ile2715=) c.896-29671C>T c.2976C>T (p.Ile992=) c.8019C>T (p.Ile2673=) n.1948C>T c.8148C>T (p.Ile2716=) | |
2 | g.73490105A= | CA1260981484 | ALMS1 | c.7765A= (p.Thr2589=) c.1157A= c.5217A= c.2212A= (p.Thr738=) c.8146A= (p.Thr2716=) c.896-29670A= c.2977A= (p.Thr993=) c.8020A= (p.Thr2674=) n.1949A= c.8149A= (p.Thr2717=) | |
2 | g.73490105A>C | CA347267655 | ALMS1 | c.7765A>C (p.Thr2589Pro) c.1157A>C c.5217A>C c.2212A>C (p.Thr738Pro) c.8146A>C (p.Thr2716Pro) c.896-29670A>C c.2977A>C (p.Thr993Pro) c.8020A>C (p.Thr2674Pro) n.1949A>C c.8149A>C (p.Thr2717Pro) | ClinVar dbSNP |
2 | g.73490105A>G | CA347267656 | ALMS1 | c.7765A>G (p.Thr2589Ala) c.1157A>G c.5217A>G c.2212A>G (p.Thr738Ala) c.8146A>G (p.Thr2716Ala) c.896-29670A>G c.2977A>G (p.Thr993Ala) c.8020A>G (p.Thr2674Ala) n.1949A>G c.8149A>G (p.Thr2717Ala) | |
2 | g.73490105A>T | CA347267657 | ALMS1 | c.7765A>T (p.Thr2589Ser) c.1157A>T c.5217A>T c.2212A>T (p.Thr738Ser) c.8146A>T (p.Thr2716Ser) c.896-29670A>T c.2977A>T (p.Thr993Ser) c.8020A>T (p.Thr2674Ser) n.1949A>T c.8149A>T (p.Thr2717Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490106C>A | CA347267660 | ALMS1 | c.7766C>A (p.Thr2589Asn) c.1158C>A c.5218C>A c.2213C>A (p.Thr738Asn) c.8147C>A (p.Thr2716Asn) c.896-29669C>A c.2978C>A (p.Thr993Asn) c.8021C>A (p.Thr2674Asn) n.1950C>A c.8150C>A (p.Thr2717Asn) | |
2 | g.73490106C= | CA1260981487 | ALMS1 | c.7766C= (p.Thr2589=) c.1158C= c.5218C= c.2213C= (p.Thr738=) c.8147C= (p.Thr2716=) c.896-29669C= c.2978C= (p.Thr993=) c.8021C= (p.Thr2674=) n.1950C= c.8150C= (p.Thr2717=) | |
2 | g.73490106C>G | CA347267662 | ALMS1 | c.7766C>G (p.Thr2589Ser) c.1158C>G c.5218C>G c.2213C>G (p.Thr738Ser) c.8147C>G (p.Thr2716Ser) c.896-29669C>G c.2978C>G (p.Thr993Ser) c.8021C>G (p.Thr2674Ser) n.1950C>G c.8150C>G (p.Thr2717Ser) | |
2 | g.73490106C>T | CA347267663 | ALMS1 | c.7766C>T (p.Thr2589Ile) c.1158C>T c.5218C>T c.2213C>T (p.Thr738Ile) c.8147C>T (p.Thr2716Ile) c.896-29669C>T c.2978C>T (p.Thr993Ile) c.8021C>T (p.Thr2674Ile) n.1950C>T c.8150C>T (p.Thr2717Ile) | gnomAD v4 |
2 | g.73490106dup | CA913090806 | ALMS1 | c.7766dup (p.Ser2591PhefsTer7) c.1158dup c.5218dup c.2213dup (p.Ser740PhefsTer7) c.8147dup (p.Ser2718PhefsTer7) c.896-29669dup c.2978dup (p.Ser995PhefsTer7) c.8021dup (p.Ser2676PhefsTer7) n.1950dup c.8150dup (p.Ser2719PhefsTer7) | |
2 | g.73490107T>A | CA427000961 | ALMS1 | c.7767T>A (p.Thr2589=) c.1159T>A c.5219T>A c.2214T>A (p.Thr738=) c.8148T>A (p.Thr2716=) c.896-29668T>A c.2979T>A (p.Thr993=) c.8022T>A (p.Thr2674=) n.1951T>A c.8151T>A (p.Thr2717=) | |
2 | g.73490107T>C | CA427000962 | ALMS1 | c.7767T>C (p.Thr2589=) c.1159T>C c.5219T>C c.2214T>C (p.Thr738=) c.8148T>C (p.Thr2716=) c.896-29668T>C c.2979T>C (p.Thr993=) c.8022T>C (p.Thr2674=) n.1951T>C c.8151T>C (p.Thr2717=) | |
2 | g.73490107T>G | CA427000964 | ALMS1 | c.7767T>G (p.Thr2589=) c.1159T>G c.5219T>G c.2214T>G (p.Thr738=) c.8148T>G (p.Thr2716=) c.896-29668T>G c.2979T>G (p.Thr993=) c.8022T>G (p.Thr2674=) n.1951T>G c.8151T>G (p.Thr2717=) | |
2 | g.73490111dup | CA658821976 | ALMS1 | c.7771dup (p.Ser2591PhefsTer7) c.1163dup c.5223dup c.2218dup (p.Ser740PhefsTer7) c.8152dup (p.Ser2718PhefsTer7) c.896-29664dup c.2983dup (p.Ser995PhefsTer7) c.8026dup (p.Ser2676PhefsTer7) n.1955dup c.8155dup (p.Ser2719PhefsTer7) | ClinVar dbSNP |
2 | g.73490110_73490111del | CA2580068236 | ALMS1 | c.7770_7771del (p.Ser2591IlefsTer6) c.1162_1163del c.5222_5223del c.2217_2218del (p.Ser740IlefsTer6) c.8151_8152del (p.Ser2718IlefsTer6) c.896-29665_896-29664del c.2982_2983del (p.Ser995IlefsTer6) c.8025_8026del (p.Ser2676IlefsTer6) n.1954_1955del c.8154_8155del (p.Ser2719IlefsTer6) | ClinVar |
2 | g.73490108T>A | CA347267665 | ALMS1 | c.7768T>A (p.Phe2590Ile) c.1160T>A c.5220T>A c.2215T>A (p.Phe739Ile) c.8149T>A (p.Phe2717Ile) c.896-29667T>A c.2980T>A (p.Phe994Ile) c.8023T>A (p.Phe2675Ile) n.1952T>A c.8152T>A (p.Phe2718Ile) | |
2 | g.73490108T>C | CA347267667 | ALMS1 | c.7768T>C (p.Phe2590Leu) c.1160T>C c.5220T>C c.2215T>C (p.Phe739Leu) c.8149T>C (p.Phe2717Leu) c.896-29667T>C c.2980T>C (p.Phe994Leu) c.8023T>C (p.Phe2675Leu) n.1952T>C c.8152T>C (p.Phe2718Leu) | |
2 | g.73490108T>G | CA347267669 | ALMS1 | c.7768T>G (p.Phe2590Val) c.1160T>G c.5220T>G c.2215T>G (p.Phe739Val) c.8149T>G (p.Phe2717Val) c.896-29667T>G c.2980T>G (p.Phe994Val) c.8023T>G (p.Phe2675Val) n.1952T>G c.8152T>G (p.Phe2718Val) | gnomAD v4 |
2 | g.73490109T>A | CA347267670 | ALMS1 | c.7769T>A (p.Phe2590Tyr) c.1161T>A c.5221T>A c.2216T>A (p.Phe739Tyr) c.8150T>A (p.Phe2717Tyr) c.896-29666T>A c.2981T>A (p.Phe994Tyr) c.8024T>A (p.Phe2675Tyr) n.1953T>A c.8153T>A (p.Phe2718Tyr) | |
2 | g.73490109T>C | CA347267673 | ALMS1 | c.7769T>C (p.Phe2590Ser) c.1161T>C c.5221T>C c.2216T>C (p.Phe739Ser) c.8150T>C (p.Phe2717Ser) c.896-29666T>C c.2981T>C (p.Phe994Ser) c.8024T>C (p.Phe2675Ser) n.1953T>C c.8153T>C (p.Phe2718Ser) | |
2 | g.73490109T>G | CA347267672 | ALMS1 | c.7769T>G (p.Phe2590Cys) c.1161T>G c.5221T>G c.2216T>G (p.Phe739Cys) c.8150T>G (p.Phe2717Cys) c.896-29666T>G c.2981T>G (p.Phe994Cys) c.8024T>G (p.Phe2675Cys) n.1953T>G c.8153T>G (p.Phe2718Cys) | ClinVar |