| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |