Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.78500205C>A | CA2629776902 | IREB2 | c.*2062C>A (n.*2062C>A) | gnomAD v4 |
15 | g.78500205C>G | CA2629776903 | IREB2 | c.*2062C>G (n.*2062C>G) | gnomAD v4 |
15 | g.78500205C>T | CA2629776904 | IREB2 | c.*2062C>T (n.*2062C>T) | gnomAD v4 |
15 | g.78500206T>C | CA2629776905 | IREB2 | c.*2063T>C (n.*2063T>C) | gnomAD v4 |
15 | g.78500208A= | CA2189548486 | IREB2 | c.*2065A= (n.*2065A=) | |
15 | g.78500208A>C | CA2629776906 | IREB2 | c.*2065A>C (n.*2065A>C) | gnomAD v4 |
15 | g.78500208A>G | CA715967411 | IREB2 | c.*2065A>G (n.*2065A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500209G>T | CA2629776907 | IREB2 | c.*2066G>T (n.*2066G>T) | gnomAD v4 |
15 | g.78500210C>A | CA2629776908 | IREB2 | c.*2067C>A (n.*2067C>A) | gnomAD v4 |
15 | g.78500210C>T | CA2629776909 | IREB2 | c.*2067C>T (n.*2067C>T) | gnomAD v4 |
15 | g.78500211A= | CA2189548487 | IREB2 | c.*2068A= (n.*2068A=) | |
15 | g.78500211A>G | CA971768319 | IREB2 | c.*2068A>G (n.*2068A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500212G>A | CA2629776910 | IREB2 | c.*2069G>A (n.*2069G>A) | gnomAD v4 |
15 | g.78500212G>T | CA2629776911 | IREB2 | c.*2069G>T (n.*2069G>T) | gnomAD v4 |
15 | g.78500213C= | CA2189548488 | IREB2 | c.*2070C= (n.*2070C=) | |
15 | g.78500213C>T | CA715967413 | IREB2 | c.*2070C>T (n.*2070C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500214T>C | CA2629776912 | IREB2 | c.*2071T>C (n.*2071T>C) | gnomAD v4 |
15 | g.78500218T>A | CA2629776913 | IREB2 | c.*2075T>A (n.*2075T>A) | gnomAD v4 |
15 | g.78500218T>C | CA619228944 | IREB2 | c.*2075T>C (n.*2075T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500218T>G | CA273872386 | IREB2 | c.*2075T>G (n.*2075T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500218T= | CA2189548490 | IREB2 | c.*2075T= (n.*2075T=) | |
15 | g.78500219C= | CA2189548493 | IREB2 | c.*2076C= (n.*2076C=) | |
15 | g.78500219C>T | CA273872388 | IREB2 | c.*2076C>T (n.*2076C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500220A>G | CA2629776914 | IREB2 | c.*2077A>G (n.*2077A>G) | gnomAD v4 |
15 | g.78500222G>A | CA715967426 | IREB2 | c.*2079G>A (n.*2079G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500222G= | CA2189548497 | IREB2 | c.*2079G= (n.*2079G=) | |
15 | g.78500222G>T | CA2629776915 | IREB2 | c.*2079G>T (n.*2079G>T) | gnomAD v4 |
15 | g.78500223A= | CA2189548500 | IREB2 | c.*2080A= (n.*2080A=) | |
15 | g.78500223A>G | CA2189548502 | IREB2 | c.*2080A>G (n.*2080A>G) | dbSNP gnomAD v4 |
15 | g.78500224G>T | CA2629776916 | IREB2 | c.*2081G>T (n.*2081G>T) | gnomAD v4 |
15 | g.78500225A= | CA2189548505 | IREB2 | c.*2082A= (n.*2082A=) | |
15 | g.78500225A>G | CA2189548506 | IREB2 | c.*2082A>G (n.*2082A>G) | dbSNP gnomAD v4 |
15 | g.78500226T>C | CA273872395 | IREB2 | c.*2083T>C (n.*2083T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500226T= | CA2189548507 | IREB2 | c.*2083T= (n.*2083T=) | |
15 | g.78500227G>A | CA2629776918 | IREB2 | c.*2084G>A (n.*2084G>A) | gnomAD v4 |
15 | g.78500227G>T | CA2629776917 | IREB2 | c.*2084G>T (n.*2084G>T) | gnomAD v4 |
15 | g.78500242_78500243insGGATGGTAAAGCTAGCT | CA2804870078 | IREB2 | c.*2099_*2100insGGATGGTAAAGCTAGCT (n.*2099_*2100insGGATGGTAAAGCTAGCT) | |
15 | g.78500229T>C | CA2189548511 | IREB2 | c.*2086T>C (n.*2086T>C) | dbSNP gnomAD v4 |
15 | g.78500229T>G | CA971768326 | IREB2 | c.*2086T>G (n.*2086T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500229T= | CA2189548510 | IREB2 | c.*2086T= (n.*2086T=) | |
15 | g.78500230G>T | CA2629776919 | IREB2 | c.*2087G>T (n.*2087G>T) | gnomAD v4 |
15 | g.78500231del | CA2629776920 | IREB2 | c.*2088del (n.*2088del) | gnomAD v4 |
15 | g.78500237C>A | CA2629776921 | IREB2 | c.*2094C>A (n.*2094C>A) | gnomAD v4 |
15 | g.78500239A>T | CA2731363610 | IREB2 | c.*2096A>T (n.*2096A>T) | dbSNP |
15 | g.78500242T>C | CA2804870079 | IREB2 | c.*2099T>C (n.*2099T>C) | |
15 | g.78500246T>C | CA715967432 | IREB2 | c.*2103T>C (n.*2103T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500246T= | CA2189548514 | IREB2 | c.*2103T= (n.*2103T=) | |
15 | g.78500249G>T | CA2629776922 | IREB2 | c.*2106G>T (n.*2106G>T) | gnomAD v4 |
15 | g.78500254A>G | CA2518436208 | IREB2 | c.*2111A>G (n.*2111A>G) | |
15 | g.78500257C= | CA2189548518 | IREB2 | c.*2114C= (n.*2114C=) | |
15 | g.78500257C>T | CA715967433 | IREB2 | c.*2114C>T (n.*2114C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500258A>G | CA2629776923 | IREB2 | c.*2115A>G (n.*2115A>G) | gnomAD v4 |
15 | g.78500259T>C | CA619228945 | IREB2 | c.*2116T>C (n.*2116T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500259T= | CA2189548521 | IREB2 | c.*2116T= (n.*2116T=) | |
15 | g.78500261C>A | CA2629776924 | IREB2 | c.*2118C>A (n.*2118C>A) | gnomAD v4 |
15 | g.78500261C= | CA2189548524 | IREB2 | c.*2118C= (n.*2118C=) | |
15 | g.78500261C>G | CA273872396 | IREB2 | c.*2118C>G (n.*2118C>G) | dbSNP |
15 | g.78500262A= | CA2189548526 | IREB2 | c.*2119A= (n.*2119A=) | |
15 | g.78500262A>T | CA273872397 | IREB2 | c.*2119A>T (n.*2119A>T) | dbSNP |
15 | g.78500268C= | CA2189548529 | IREB2 | c.*2125C= (n.*2125C=) | |
15 | g.78500268C>G | CA2189548530 | IREB2 | c.*2125C>G (n.*2125C>G) | dbSNP |
15 | g.78500275A>G | CA2731363665 | IREB2 | c.*2132A>G (n.*2132A>G) | dbSNP |
15 | g.78500276C>A | CA2629776925 | IREB2 | c.*2133C>A (n.*2133C>A) | gnomAD v4 |
15 | g.78500276C= | CA2189548532 | IREB2 | c.*2133C= (n.*2133C=) | |
15 | g.78500276C>T | CA273872402 | IREB2 | c.*2133C>T (n.*2133C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500277C>A | CA2629776926 | IREB2 | c.*2134C>A (n.*2134C>A) | gnomAD v4 |
15 | g.78500277C= | CA2189548535 | IREB2 | c.*2134C= (n.*2134C=) | |
15 | g.78500277C>G | CA715967450 | IREB2 | c.*2134C>G (n.*2134C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500277C>T | CA2189548539 | IREB2 | c.*2134C>T (n.*2134C>T) | dbSNP |
15 | g.78500280G>A | CA619228946 | IREB2 | c.*2137G>A (n.*2137G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500280G= | CA2189548542 | IREB2 | c.*2137G= (n.*2137G=) | |
15 | g.78500281T>C | CA273872403 | IREB2 | c.*2138T>C (n.*2138T>C) | dbSNP gnomAD v4 |
15 | g.78500281T>G | CA2596538275 | IREB2 | c.*2138T>G (n.*2138T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500281T= | CA2189548544 | IREB2 | c.*2138T= (n.*2138T=) | |
15 | g.78500282C>A | CA2629776927 | IREB2 | c.*2139C>A (n.*2139C>A) | gnomAD v4 |
15 | g.78500282C= | CA2189548548 | IREB2 | c.*2139C= (n.*2139C=) | |
15 | g.78500282C>G | CA971768348 | IREB2 | c.*2139C>G (n.*2139C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500284A>T | CA2804870080 | IREB2 | c.*2141A>T (n.*2141A>T) | |
15 | g.78500285G>T | CA2629776928 | IREB2 | c.*2142G>T (n.*2142G>T) | gnomAD v4 |
15 | g.78500289T>C | CA971768350 | IREB2 | c.*2146T>C (n.*2146T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500289T>G | CA2189548551 | IREB2 | c.*2146T>G (n.*2146T>G) | dbSNP |
15 | g.78500289T= | CA2189548550 | IREB2 | c.*2146T= (n.*2146T=) | |
15 | g.78500292T>A | CA2189548553 | IREB2 | c.*2149T>A (n.*2149T>A) | dbSNP |
15 | g.78500292T= | CA2189548552 | IREB2 | c.*2149T= (n.*2149T=) | |
15 | g.78500294C= | CA2189548556 | IREB2 | c.*2151C= (n.*2151C=) | |
15 | g.78500294C>G | CA971768351 | IREB2 | c.*2151C>G (n.*2151C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500297G>T | CA2629776929 | IREB2 | c.*2154G>T (n.*2154G>T) | gnomAD v4 |
15 | g.78500298C>A | CA2629776930 | IREB2 | c.*2155C>A (n.*2155C>A) | gnomAD v4 |
15 | g.78500298C= | CA2189548562 | IREB2 | c.*2155C= (n.*2155C=) | |
15 | g.78500298C>G | CA273872405 | IREB2 | c.*2155C>G (n.*2155C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78500298C>T | CA715967472 | IREB2 | c.*2155C>T (n.*2155C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500299A= | CA2189548566 | IREB2 | c.*2156A= (n.*2156A=) | |
15 | g.78500299A>G | CA971768356 | IREB2 | c.*2156A>G (n.*2156A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500301del | CA2629776931 | IREB2 | c.*2158del (n.*2158del) | gnomAD v4 |
15 | g.78500301A= | CA2189548569 | IREB2 | c.*2158A= (n.*2158A=) | |
15 | g.78500301A>C | CA2189548570 | IREB2 | c.*2158A>C (n.*2158A>C) | dbSNP |
15 | g.78500303C>A | CA715967474 | IREB2 | c.*2160C>A (n.*2160C>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500303C= | CA2189548571 | IREB2 | c.*2160C= (n.*2160C=) | |
15 | g.78500304T>C | CA2596538276 | IREB2 | c.*2161T>C (n.*2161T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78500305dup | CA2629776932 | IREB2 | c.*2162dup (n.*2162dup) | gnomAD v4 |
15 | g.78500306_78500307del | CA2804870088 | IREB2 | c.*2163_*2164del (n.*2163_*2164del) |