Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.46549821T>A | CA410583908 | DIP2A | c.2573T>A (p.Val858Glu) c.2561T>A (p.Val854Glu) c.2681T>A (p.Val894Glu) c.2678T>A (p.Val893Glu) c.2576T>A (p.Val859Glu) c.2549T>A (p.Val850Glu) c.2426T>A (p.Val809Glu) c.*31T>A (n.*31T>A) c.2444T>A (p.Val815Glu) c.2321T>A (p.Val774Glu) | |
21 | g.46549821T>C | CA410583909 | DIP2A | c.2573T>C (p.Val858Ala) c.2561T>C (p.Val854Ala) c.2681T>C (p.Val894Ala) c.2678T>C (p.Val893Ala) c.2576T>C (p.Val859Ala) c.2549T>C (p.Val850Ala) c.2426T>C (p.Val809Ala) c.*31T>C (n.*31T>C) c.2444T>C (p.Val815Ala) c.2321T>C (p.Val774Ala) | |
21 | g.46549821T>G | CA410583910 | DIP2A | c.2573T>G (p.Val858Gly) c.2561T>G (p.Val854Gly) c.2681T>G (p.Val894Gly) c.2678T>G (p.Val893Gly) c.2576T>G (p.Val859Gly) c.2549T>G (p.Val850Gly) c.2426T>G (p.Val809Gly) c.*31T>G (n.*31T>G) c.2444T>G (p.Val815Gly) c.2321T>G (p.Val774Gly) | |
21 | g.46549822G>A | CA512744010 | DIP2A | c.2574G>A (p.Val858=) c.2562G>A (p.Val854=) c.2682G>A (p.Val894=) c.2679G>A (p.Val893=) c.2577G>A (p.Val859=) c.2550G>A (p.Val850=) c.2427G>A (p.Val809=) c.*32G>A (n.*32G>A) c.2445G>A (p.Val815=) c.2322G>A (p.Val774=) | |
21 | g.46549822G>C | CA512744005 | DIP2A | c.2574G>C (p.Val858=) c.2562G>C (p.Val854=) c.2682G>C (p.Val894=) c.2679G>C (p.Val893=) c.2577G>C (p.Val859=) c.2550G>C (p.Val850=) c.2427G>C (p.Val809=) c.*32G>C (n.*32G>C) c.2445G>C (p.Val815=) c.2322G>C (p.Val774=) | |
21 | g.46549822G= | CA2392733473 | DIP2A | c.2574G= (p.Val858=) c.2562G= (p.Val854=) c.2682G= (p.Val894=) c.2679G= (p.Val893=) c.2577G= (p.Val859=) c.2550G= (p.Val850=) c.2427G= (p.Val809=) c.*32G= (n.*32G=) c.2445G= (p.Val815=) c.2322G= (p.Val774=) | |
21 | g.46549822G>T | CA512744004 | DIP2A | c.2574G>T (p.Val858=) c.2562G>T (p.Val854=) c.2682G>T (p.Val894=) c.2679G>T (p.Val893=) c.2577G>T (p.Val859=) c.2550G>T (p.Val850=) c.2427G>T (p.Val809=) c.*32G>T (n.*32G>T) c.2445G>T (p.Val815=) c.2322G>T (p.Val774=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549823G>A | CA410583913 | DIP2A | c.2575G>A (p.Ala859Thr) c.2563G>A (p.Ala855Thr) c.2683G>A (p.Ala895Thr) c.2680G>A (p.Ala894Thr) c.2578G>A (p.Ala860Thr) c.2551G>A (p.Ala851Thr) c.2428G>A (p.Ala810Thr) c.*33G>A (n.*33G>A) c.2446G>A (p.Ala816Thr) c.2323G>A (p.Ala775Thr) | |
21 | g.46549823G>C | CA410583912 | DIP2A | c.2575G>C (p.Ala859Pro) c.2563G>C (p.Ala855Pro) c.2683G>C (p.Ala895Pro) c.2680G>C (p.Ala894Pro) c.2578G>C (p.Ala860Pro) c.2551G>C (p.Ala851Pro) c.2428G>C (p.Ala810Pro) c.*33G>C (n.*33G>C) c.2446G>C (p.Ala816Pro) c.2323G>C (p.Ala775Pro) | |
21 | g.46549823G>T | CA410583911 | DIP2A | c.2575G>T (p.Ala859Ser) c.2563G>T (p.Ala855Ser) c.2683G>T (p.Ala895Ser) c.2680G>T (p.Ala894Ser) c.2578G>T (p.Ala860Ser) c.2551G>T (p.Ala851Ser) c.2428G>T (p.Ala810Ser) c.*33G>T (n.*33G>T) c.2446G>T (p.Ala816Ser) c.2323G>T (p.Ala775Ser) | |
21 | g.46549824C>A | CA410583914 | DIP2A | c.2576C>A (p.Ala859Asp) c.2564C>A (p.Ala855Asp) c.2684C>A (p.Ala895Asp) c.2681C>A (p.Ala894Asp) c.2579C>A (p.Ala860Asp) c.2552C>A (p.Ala851Asp) c.2429C>A (p.Ala810Asp) c.*34C>A (n.*34C>A) c.2447C>A (p.Ala816Asp) c.2324C>A (p.Ala775Asp) | |
21 | g.46549824C>G | CA410583916 | DIP2A | c.2576C>G (p.Ala859Gly) c.2564C>G (p.Ala855Gly) c.2684C>G (p.Ala895Gly) c.2681C>G (p.Ala894Gly) c.2579C>G (p.Ala860Gly) c.2552C>G (p.Ala851Gly) c.2429C>G (p.Ala810Gly) c.*34C>G (n.*34C>G) c.2447C>G (p.Ala816Gly) c.2324C>G (p.Ala775Gly) | |
21 | g.46549824C>T | CA410583915 | DIP2A | c.2576C>T (p.Ala859Val) c.2564C>T (p.Ala855Val) c.2684C>T (p.Ala895Val) c.2681C>T (p.Ala894Val) c.2579C>T (p.Ala860Val) c.2552C>T (p.Ala851Val) c.2429C>T (p.Ala810Val) c.*34C>T (n.*34C>T) c.2447C>T (p.Ala816Val) c.2324C>T (p.Ala775Val) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549825T>A | CA512744028 | DIP2A | c.2577T>A (p.Ala859=) c.2565T>A (p.Ala855=) c.2685T>A (p.Ala895=) c.2682T>A (p.Ala894=) c.2580T>A (p.Ala860=) c.2553T>A (p.Ala851=) c.2430T>A (p.Ala810=) c.*35T>A (n.*35T>A) c.2448T>A (p.Ala816=) c.2325T>A (p.Ala775=) | |
21 | g.46549825T>C | CA512744027 | DIP2A | c.2577T>C (p.Ala859=) c.2565T>C (p.Ala855=) c.2685T>C (p.Ala895=) c.2682T>C (p.Ala894=) c.2580T>C (p.Ala860=) c.2553T>C (p.Ala851=) c.2430T>C (p.Ala810=) c.*35T>C (n.*35T>C) c.2448T>C (p.Ala816=) c.2325T>C (p.Ala775=) | |
21 | g.46549825T>G | CA512744025 | DIP2A | c.2577T>G (p.Ala859=) c.2565T>G (p.Ala855=) c.2685T>G (p.Ala895=) c.2682T>G (p.Ala894=) c.2580T>G (p.Ala860=) c.2553T>G (p.Ala851=) c.2430T>G (p.Ala810=) c.*35T>G (n.*35T>G) c.2448T>G (p.Ala816=) c.2325T>G (p.Ala775=) | |
21 | g.46549826G>A | CA410583917 | DIP2A | c.2578G>A (p.Glu860Lys) c.2566G>A (p.Glu856Lys) c.2686G>A (p.Glu896Lys) c.2683G>A (p.Glu895Lys) c.2581G>A (p.Glu861Lys) c.2554G>A (p.Glu852Lys) c.2431G>A (p.Glu811Lys) c.*36G>A (n.*36G>A) c.2449G>A (p.Glu817Lys) c.2326G>A (p.Glu776Lys) | |
21 | g.46549826G>C | CA410583919 | DIP2A | c.2578G>C (p.Glu860Gln) c.2566G>C (p.Glu856Gln) c.2686G>C (p.Glu896Gln) c.2683G>C (p.Glu895Gln) c.2581G>C (p.Glu861Gln) c.2554G>C (p.Glu852Gln) c.2431G>C (p.Glu811Gln) c.*36G>C (n.*36G>C) c.2449G>C (p.Glu817Gln) c.2326G>C (p.Glu776Gln) | |
21 | g.46549826G>T | CA410583918 | DIP2A | c.2578G>T (p.Glu860Ter) c.2566G>T (p.Glu856Ter) c.2686G>T (p.Glu896Ter) c.2683G>T (p.Glu895Ter) c.2581G>T (p.Glu861Ter) c.2554G>T (p.Glu852Ter) c.2431G>T (p.Glu811Ter) c.*36G>T (n.*36G>T) c.2449G>T (p.Glu817Ter) c.2326G>T (p.Glu776Ter) | |
21 | g.46549827A>C | CA410583920 | DIP2A | c.2579A>C (p.Glu860Ala) c.2567A>C (p.Glu856Ala) c.2687A>C (p.Glu896Ala) c.2684A>C (p.Glu895Ala) c.2582A>C (p.Glu861Ala) c.2555A>C (p.Glu852Ala) c.2432A>C (p.Glu811Ala) c.*37A>C (n.*37A>C) c.2450A>C (p.Glu817Ala) c.2327A>C (p.Glu776Ala) | |
21 | g.46549827A>G | CA410583922 | DIP2A | c.2579A>G (p.Glu860Gly) c.2567A>G (p.Glu856Gly) c.2687A>G (p.Glu896Gly) c.2684A>G (p.Glu895Gly) c.2582A>G (p.Glu861Gly) c.2555A>G (p.Glu852Gly) c.2432A>G (p.Glu811Gly) c.*37A>G (n.*37A>G) c.2450A>G (p.Glu817Gly) c.2327A>G (p.Glu776Gly) | |
21 | g.46549827A>T | CA410583921 | DIP2A | c.2579A>T (p.Glu860Val) c.2567A>T (p.Glu856Val) c.2687A>T (p.Glu896Val) c.2684A>T (p.Glu895Val) c.2582A>T (p.Glu861Val) c.2555A>T (p.Glu852Val) c.2432A>T (p.Glu811Val) c.*37A>T (n.*37A>T) c.2450A>T (p.Glu817Val) c.2327A>T (p.Glu776Val) | |
21 | g.46549828G>A | CA512744044 | DIP2A | c.2580G>A (p.Glu860=) c.2568G>A (p.Glu856=) c.2688G>A (p.Glu896=) c.2685G>A (p.Glu895=) c.2583G>A (p.Glu861=) c.2556G>A (p.Glu852=) c.2433G>A (p.Glu811=) c.*38G>A (n.*38G>A) c.2451G>A (p.Glu817=) c.2328G>A (p.Glu776=) | |
21 | g.46549828G>C | CA410583923 | DIP2A | c.2580G>C (p.Glu860Asp) c.2568G>C (p.Glu856Asp) c.2688G>C (p.Glu896Asp) c.2685G>C (p.Glu895Asp) c.2583G>C (p.Glu861Asp) c.2556G>C (p.Glu852Asp) c.2433G>C (p.Glu811Asp) c.*38G>C (n.*38G>C) c.2451G>C (p.Glu817Asp) c.2328G>C (p.Glu776Asp) | |
21 | g.46549828G>T | CA410583924 | DIP2A | c.2580G>T (p.Glu860Asp) c.2568G>T (p.Glu856Asp) c.2688G>T (p.Glu896Asp) c.2685G>T (p.Glu895Asp) c.2583G>T (p.Glu861Asp) c.2556G>T (p.Glu852Asp) c.2433G>T (p.Glu811Asp) c.*38G>T (n.*38G>T) c.2451G>T (p.Glu817Asp) c.2328G>T (p.Glu776Asp) | |
21 | g.46549829C>A | CA410583925 | DIP2A | c.2581C>A (p.Gln861Lys) c.2569C>A (p.Gln857Lys) c.2689C>A (p.Gln897Lys) c.2686C>A (p.Gln896Lys) c.2584C>A (p.Gln862Lys) c.2557C>A (p.Gln853Lys) c.2434C>A (p.Gln812Lys) c.*39C>A (n.*39C>A) c.2452C>A (p.Gln818Lys) c.2329C>A (p.Gln777Lys) | |
21 | g.46549829C>G | CA410583926 | DIP2A | c.2581C>G (p.Gln861Glu) c.2569C>G (p.Gln857Glu) c.2689C>G (p.Gln897Glu) c.2686C>G (p.Gln896Glu) c.2584C>G (p.Gln862Glu) c.2557C>G (p.Gln853Glu) c.2434C>G (p.Gln812Glu) c.*39C>G (n.*39C>G) c.2452C>G (p.Gln818Glu) c.2329C>G (p.Gln777Glu) | |
21 | g.46549829C>T | CA410583927 | DIP2A | c.2581C>T (p.Gln861Ter) c.2569C>T (p.Gln857Ter) c.2689C>T (p.Gln897Ter) c.2686C>T (p.Gln896Ter) c.2584C>T (p.Gln862Ter) c.2557C>T (p.Gln853Ter) c.2434C>T (p.Gln812Ter) c.*39C>T (n.*39C>T) c.2452C>T (p.Gln818Ter) c.2329C>T (p.Gln777Ter) | |
21 | g.46549830A= | CA2392733474 | DIP2A | c.2582A= (p.Gln861=) c.2570A= (p.Gln857=) c.2690A= (p.Gln897=) c.2687A= (p.Gln896=) c.2585A= (p.Gln862=) c.2558A= (p.Gln853=) c.2435A= (p.Gln812=) c.*40A= (n.*40A=) c.2453A= (p.Gln818=) c.2330A= (p.Gln777=) | |
21 | g.46549830A>C | CA410583928 | DIP2A | c.2582A>C (p.Gln861Pro) c.2570A>C (p.Gln857Pro) c.2690A>C (p.Gln897Pro) c.2687A>C (p.Gln896Pro) c.2585A>C (p.Gln862Pro) c.2558A>C (p.Gln853Pro) c.2435A>C (p.Gln812Pro) c.*40A>C (n.*40A>C) c.2453A>C (p.Gln818Pro) c.2330A>C (p.Gln777Pro) | |
21 | g.46549830A>G | CA410583929 | DIP2A | c.2582A>G (p.Gln861Arg) c.2570A>G (p.Gln857Arg) c.2690A>G (p.Gln897Arg) c.2687A>G (p.Gln896Arg) c.2585A>G (p.Gln862Arg) c.2558A>G (p.Gln853Arg) c.2435A>G (p.Gln812Arg) c.*40A>G (n.*40A>G) c.2453A>G (p.Gln818Arg) c.2330A>G (p.Gln777Arg) | |
21 | g.46549830A>T | CA410583930 | DIP2A | c.2582A>T (p.Gln861Leu) c.2570A>T (p.Gln857Leu) c.2690A>T (p.Gln897Leu) c.2687A>T (p.Gln896Leu) c.2585A>T (p.Gln862Leu) c.2558A>T (p.Gln853Leu) c.2435A>T (p.Gln812Leu) c.*40A>T (n.*40A>T) c.2453A>T (p.Gln818Leu) c.2330A>T (p.Gln777Leu) | dbSNP |
21 | g.46549831G>A | CA512744065 | DIP2A | c.2583G>A (p.Gln861=) c.2571G>A (p.Gln857=) c.2691G>A (p.Gln897=) c.2688G>A (p.Gln896=) c.2586G>A (p.Gln862=) c.2559G>A (p.Gln853=) c.2436G>A (p.Gln812=) c.*41G>A (n.*41G>A) c.2454G>A (p.Gln818=) c.2331G>A (p.Gln777=) | gnomAD v4 |
21 | g.46549831G>C | CA410583931 | DIP2A | c.2583G>C (p.Gln861His) c.2571G>C (p.Gln857His) c.2691G>C (p.Gln897His) c.2688G>C (p.Gln896His) c.2586G>C (p.Gln862His) c.2559G>C (p.Gln853His) c.2436G>C (p.Gln812His) c.*41G>C (n.*41G>C) c.2454G>C (p.Gln818His) c.2331G>C (p.Gln777His) | |
21 | g.46549831G>T | CA410583932 | DIP2A | c.2583G>T (p.Gln861His) c.2571G>T (p.Gln857His) c.2691G>T (p.Gln897His) c.2688G>T (p.Gln896His) c.2586G>T (p.Gln862His) c.2559G>T (p.Gln853His) c.2436G>T (p.Gln812His) c.*41G>T (n.*41G>T) c.2454G>T (p.Gln818His) c.2331G>T (p.Gln777His) | gnomAD v4 |
21 | g.46549832C>A | CA512744071 | DIP2A | c.2584C>A (p.Arg862=) c.2572C>A (p.Arg858=) c.2692C>A (p.Arg898=) c.2689C>A (p.Arg897=) c.2587C>A (p.Arg863=) c.2560C>A (p.Arg854=) c.2437C>A (p.Arg813=) c.*42C>A (n.*42C>A) c.2455C>A (p.Arg819=) c.2332C>A (p.Arg778=) | |
21 | g.46549832C= | CA2392733475 | DIP2A | c.2584C= (p.Arg862=) c.2572C= (p.Arg858=) c.2692C= (p.Arg898=) c.2689C= (p.Arg897=) c.2587C= (p.Arg863=) c.2560C= (p.Arg854=) c.2437C= (p.Arg813=) c.*42C= (n.*42C=) c.2455C= (p.Arg819=) c.2332C= (p.Arg778=) | |
21 | g.46549832C>G | CA410583933 | DIP2A | c.2584C>G (p.Arg862Gly) c.2572C>G (p.Arg858Gly) c.2692C>G (p.Arg898Gly) c.2689C>G (p.Arg897Gly) c.2587C>G (p.Arg863Gly) c.2560C>G (p.Arg854Gly) c.2437C>G (p.Arg813Gly) c.*42C>G (n.*42C>G) c.2455C>G (p.Arg819Gly) c.2332C>G (p.Arg778Gly) | |
21 | g.46549832C>T | CA10082470 | DIP2A | c.2584C>T (p.Arg862Trp) c.2572C>T (p.Arg858Trp) c.2692C>T (p.Arg898Trp) c.2689C>T (p.Arg897Trp) c.2587C>T (p.Arg863Trp) c.2560C>T (p.Arg854Trp) c.2437C>T (p.Arg813Trp) c.*42C>T (n.*42C>T) c.2455C>T (p.Arg819Trp) c.2332C>T (p.Arg778Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.46549833G>A | CA10082471 | DIP2A | c.2585G>A (p.Arg862Gln) c.2573G>A (p.Arg858Gln) c.2693G>A (p.Arg898Gln) c.2690G>A (p.Arg897Gln) c.2588G>A (p.Arg863Gln) c.2561G>A (p.Arg854Gln) c.2438G>A (p.Arg813Gln) c.*43G>A (n.*43G>A) c.2456G>A (p.Arg819Gln) c.2333G>A (p.Arg778Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549833G>C | CA410583934 | DIP2A | c.2585G>C (p.Arg862Pro) c.2573G>C (p.Arg858Pro) c.2693G>C (p.Arg898Pro) c.2690G>C (p.Arg897Pro) c.2588G>C (p.Arg863Pro) c.2561G>C (p.Arg854Pro) c.2438G>C (p.Arg813Pro) c.*43G>C (n.*43G>C) c.2456G>C (p.Arg819Pro) c.2333G>C (p.Arg778Pro) | |
21 | g.46549833G= | CA2392733476 | DIP2A | c.2585G= (p.Arg862=) c.2573G= (p.Arg858=) c.2693G= (p.Arg898=) c.2690G= (p.Arg897=) c.2588G= (p.Arg863=) c.2561G= (p.Arg854=) c.2438G= (p.Arg813=) c.*43G= (n.*43G=) c.2456G= (p.Arg819=) c.2333G= (p.Arg778=) | |
21 | g.46549833G>T | CA410583935 | DIP2A | c.2585G>T (p.Arg862Leu) c.2573G>T (p.Arg858Leu) c.2693G>T (p.Arg898Leu) c.2690G>T (p.Arg897Leu) c.2588G>T (p.Arg863Leu) c.2561G>T (p.Arg854Leu) c.2438G>T (p.Arg813Leu) c.*43G>T (n.*43G>T) c.2456G>T (p.Arg819Leu) c.2333G>T (p.Arg778Leu) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549834G>A | CA512744082 | DIP2A | c.2586G>A (p.Arg862=) c.2574G>A (p.Arg858=) c.2694G>A (p.Arg898=) c.2691G>A (p.Arg897=) c.2589G>A (p.Arg863=) c.2562G>A (p.Arg854=) c.2439G>A (p.Arg813=) c.*44G>A (n.*44G>A) c.2457G>A (p.Arg819=) c.2334G>A (p.Arg778=) | |
21 | g.46549834G>C | CA512744080 | DIP2A | c.2586G>C (p.Arg862=) c.2574G>C (p.Arg858=) c.2694G>C (p.Arg898=) c.2691G>C (p.Arg897=) c.2589G>C (p.Arg863=) c.2562G>C (p.Arg854=) c.2439G>C (p.Arg813=) c.*44G>C (n.*44G>C) c.2457G>C (p.Arg819=) c.2334G>C (p.Arg778=) | |
21 | g.46549834G>T | CA512744078 | DIP2A | c.2586G>T (p.Arg862=) c.2574G>T (p.Arg858=) c.2694G>T (p.Arg898=) c.2691G>T (p.Arg897=) c.2589G>T (p.Arg863=) c.2562G>T (p.Arg854=) c.2439G>T (p.Arg813=) c.*44G>T (n.*44G>T) c.2457G>T (p.Arg819=) c.2334G>T (p.Arg778=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549835C>A | CA410583936 | DIP2A | c.2587C>A (p.Pro863Thr) c.2575C>A (p.Pro859Thr) c.2695C>A (p.Pro899Thr) c.2692C>A (p.Pro898Thr) c.2590C>A (p.Pro864Thr) c.2563C>A (p.Pro855Thr) c.2440C>A (p.Pro814Thr) c.*45C>A (n.*45C>A) c.2458C>A (p.Pro820Thr) c.2335C>A (p.Pro779Thr) | |
21 | g.46549835C>G | CA410583937 | DIP2A | c.2587C>G (p.Pro863Ala) c.2575C>G (p.Pro859Ala) c.2695C>G (p.Pro899Ala) c.2692C>G (p.Pro898Ala) c.2590C>G (p.Pro864Ala) c.2563C>G (p.Pro855Ala) c.2440C>G (p.Pro814Ala) c.*45C>G (n.*45C>G) c.2458C>G (p.Pro820Ala) c.2335C>G (p.Pro779Ala) | |
21 | g.46549835C>T | CA410583938 | DIP2A | c.2587C>T (p.Pro863Ser) c.2575C>T (p.Pro859Ser) c.2695C>T (p.Pro899Ser) c.2692C>T (p.Pro898Ser) c.2590C>T (p.Pro864Ser) c.2563C>T (p.Pro855Ser) c.2440C>T (p.Pro814Ser) c.*45C>T (n.*45C>T) c.2458C>T (p.Pro820Ser) c.2335C>T (p.Pro779Ser) | gnomAD v4 |
21 | g.46549836C>A | CA410583939 | DIP2A | c.2588C>A (p.Pro863Gln) c.2576C>A (p.Pro859Gln) c.2696C>A (p.Pro899Gln) c.2693C>A (p.Pro898Gln) c.2591C>A (p.Pro864Gln) c.2564C>A (p.Pro855Gln) c.2441C>A (p.Pro814Gln) c.*46C>A (n.*46C>A) c.2459C>A (p.Pro820Gln) c.2336C>A (p.Pro779Gln) | gnomAD v4 |
21 | g.46549836C= | CA2392733477 | DIP2A | c.2588C= (p.Pro863=) c.2576C= (p.Pro859=) c.2696C= (p.Pro899=) c.2693C= (p.Pro898=) c.2591C= (p.Pro864=) c.2564C= (p.Pro855=) c.2441C= (p.Pro814=) c.*46C= (n.*46C=) c.2459C= (p.Pro820=) c.2336C= (p.Pro779=) | |
21 | g.46549836C>G | CA410583940 | DIP2A | c.2588C>G (p.Pro863Arg) c.2576C>G (p.Pro859Arg) c.2696C>G (p.Pro899Arg) c.2693C>G (p.Pro898Arg) c.2591C>G (p.Pro864Arg) c.2564C>G (p.Pro855Arg) c.2441C>G (p.Pro814Arg) c.*46C>G (n.*46C>G) c.2459C>G (p.Pro820Arg) c.2336C>G (p.Pro779Arg) | |
21 | g.46549836C>T | CA10082472 | DIP2A | c.2588C>T (p.Pro863Leu) c.2576C>T (p.Pro859Leu) c.2696C>T (p.Pro899Leu) c.2693C>T (p.Pro898Leu) c.2591C>T (p.Pro864Leu) c.2564C>T (p.Pro855Leu) c.2441C>T (p.Pro814Leu) c.*46C>T (n.*46C>T) c.2459C>T (p.Pro820Leu) c.2336C>T (p.Pro779Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549837G>A | CA10082473 | DIP2A | c.2589G>A (p.Pro863=) c.2577G>A (p.Pro859=) c.2697G>A (p.Pro899=) c.2694G>A (p.Pro898=) c.2592G>A (p.Pro864=) c.2565G>A (p.Pro855=) c.2442G>A (p.Pro814=) c.*47G>A (n.*47G>A) c.2460G>A (p.Pro820=) c.2337G>A (p.Pro779=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549837G>C | CA512744101 | DIP2A | c.2589G>C (p.Pro863=) c.2577G>C (p.Pro859=) c.2697G>C (p.Pro899=) c.2694G>C (p.Pro898=) c.2592G>C (p.Pro864=) c.2565G>C (p.Pro855=) c.2442G>C (p.Pro814=) c.*47G>C (n.*47G>C) c.2460G>C (p.Pro820=) c.2337G>C (p.Pro779=) | |
21 | g.46549837G= | CA2392733478 | DIP2A | c.2589G= (p.Pro863=) c.2577G= (p.Pro859=) c.2697G= (p.Pro899=) c.2694G= (p.Pro898=) c.2592G= (p.Pro864=) c.2565G= (p.Pro855=) c.2442G= (p.Pro814=) c.*47G= (n.*47G=) c.2460G= (p.Pro820=) c.2337G= (p.Pro779=) | |
21 | g.46549837G>T | CA512744099 | DIP2A | c.2589G>T (p.Pro863=) c.2577G>T (p.Pro859=) c.2697G>T (p.Pro899=) c.2694G>T (p.Pro898=) c.2592G>T (p.Pro864=) c.2565G>T (p.Pro855=) c.2442G>T (p.Pro814=) c.*47G>T (n.*47G>T) c.2460G>T (p.Pro820=) c.2337G>T (p.Pro779=) | |
21 | g.46549838G>A | CA410583941 | DIP2A | c.2590G>A (p.Asp864Asn) c.2578G>A (p.Asp860Asn) c.2698G>A (p.Asp900Asn) c.2695G>A (p.Asp899Asn) c.2593G>A (p.Asp865Asn) c.2566G>A (p.Asp856Asn) c.2443G>A (p.Asp815Asn) c.*48G>A (n.*48G>A) c.2461G>A (p.Asp821Asn) c.2338G>A (p.Asp780Asn) | |
21 | g.46549838G>C | CA410583942 | DIP2A | c.2590G>C (p.Asp864His) c.2578G>C (p.Asp860His) c.2698G>C (p.Asp900His) c.2695G>C (p.Asp899His) c.2593G>C (p.Asp865His) c.2566G>C (p.Asp856His) c.2443G>C (p.Asp815His) c.*48G>C (n.*48G>C) c.2461G>C (p.Asp821His) c.2338G>C (p.Asp780His) | |
21 | g.46549838G>T | CA410583943 | DIP2A | c.2590G>T (p.Asp864Tyr) c.2578G>T (p.Asp860Tyr) c.2698G>T (p.Asp900Tyr) c.2695G>T (p.Asp899Tyr) c.2593G>T (p.Asp865Tyr) c.2566G>T (p.Asp856Tyr) c.2443G>T (p.Asp815Tyr) c.*48G>T (n.*48G>T) c.2461G>T (p.Asp821Tyr) c.2338G>T (p.Asp780Tyr) | gnomAD v4 |
21 | g.46549839A>C | CA410583946 | DIP2A | c.2591A>C (p.Asp864Ala) c.2579A>C (p.Asp860Ala) c.2699A>C (p.Asp900Ala) c.2696A>C (p.Asp899Ala) c.2594A>C (p.Asp865Ala) c.2567A>C (p.Asp856Ala) c.2444A>C (p.Asp815Ala) c.*49A>C (n.*49A>C) c.2462A>C (p.Asp821Ala) c.2339A>C (p.Asp780Ala) | |
21 | g.46549839A>G | CA410583945 | DIP2A | c.2591A>G (p.Asp864Gly) c.2579A>G (p.Asp860Gly) c.2699A>G (p.Asp900Gly) c.2696A>G (p.Asp899Gly) c.2594A>G (p.Asp865Gly) c.2567A>G (p.Asp856Gly) c.2444A>G (p.Asp815Gly) c.*49A>G (n.*49A>G) c.2462A>G (p.Asp821Gly) c.2339A>G (p.Asp780Gly) | gnomAD v4 |
21 | g.46549839A>T | CA410583944 | DIP2A | c.2591A>T (p.Asp864Val) c.2579A>T (p.Asp860Val) c.2699A>T (p.Asp900Val) c.2696A>T (p.Asp899Val) c.2594A>T (p.Asp865Val) c.2567A>T (p.Asp856Val) c.2444A>T (p.Asp815Val) c.*49A>T (n.*49A>T) c.2462A>T (p.Asp821Val) c.2339A>T (p.Asp780Val) | |
21 | g.46549840T>A | CA410583947 | DIP2A | c.2592T>A (p.Asp864Glu) c.2580T>A (p.Asp860Glu) c.2700T>A (p.Asp900Glu) c.2697T>A (p.Asp899Glu) c.2595T>A (p.Asp865Glu) c.2568T>A (p.Asp856Glu) c.2445T>A (p.Asp815Glu) c.*50T>A (n.*50T>A) c.2463T>A (p.Asp821Glu) c.2340T>A (p.Asp780Glu) | |
21 | g.46549840T>C | CA512744118 | DIP2A | c.2592T>C (p.Asp864=) c.2580T>C (p.Asp860=) c.2700T>C (p.Asp900=) c.2697T>C (p.Asp899=) c.2595T>C (p.Asp865=) c.2568T>C (p.Asp856=) c.2445T>C (p.Asp815=) c.*50T>C (n.*50T>C) c.2463T>C (p.Asp821=) c.2340T>C (p.Asp780=) | |
21 | g.46549840T>G | CA410583948 | DIP2A | c.2592T>G (p.Asp864Glu) c.2580T>G (p.Asp860Glu) c.2700T>G (p.Asp900Glu) c.2697T>G (p.Asp899Glu) c.2595T>G (p.Asp865Glu) c.2568T>G (p.Asp856Glu) c.2445T>G (p.Asp815Glu) c.*50T>G (n.*50T>G) c.2463T>G (p.Asp821Glu) c.2340T>G (p.Asp780Glu) | |
21 | g.46549841G>A | CA410583949 | DIP2A | c.2593G>A (p.Ala865Thr) c.2581G>A (p.Ala861Thr) c.2701G>A (p.Ala901Thr) c.2698G>A (p.Ala900Thr) c.2596G>A (p.Ala866Thr) c.2569G>A (p.Ala857Thr) c.2446G>A (p.Ala816Thr) c.*51G>A (n.*51G>A) c.2464G>A (p.Ala822Thr) c.2341G>A (p.Ala781Thr) | gnomAD v4 |
21 | g.46549841G>C | CA410583950 | DIP2A | c.2593G>C (p.Ala865Pro) c.2581G>C (p.Ala861Pro) c.2701G>C (p.Ala901Pro) c.2698G>C (p.Ala900Pro) c.2596G>C (p.Ala866Pro) c.2569G>C (p.Ala857Pro) c.2446G>C (p.Ala816Pro) c.*51G>C (n.*51G>C) c.2464G>C (p.Ala822Pro) c.2341G>C (p.Ala781Pro) | |
21 | g.46549841G>T | CA410583951 | DIP2A | c.2593G>T (p.Ala865Ser) c.2581G>T (p.Ala861Ser) c.2701G>T (p.Ala901Ser) c.2698G>T (p.Ala900Ser) c.2596G>T (p.Ala866Ser) c.2569G>T (p.Ala857Ser) c.2446G>T (p.Ala816Ser) c.*51G>T (n.*51G>T) c.2464G>T (p.Ala822Ser) c.2341G>T (p.Ala781Ser) | |
21 | g.46549842C>A | CA410583952 | DIP2A | c.2594C>A (p.Ala865Asp) c.2582C>A (p.Ala861Asp) c.2702C>A (p.Ala901Asp) c.2699C>A (p.Ala900Asp) c.2597C>A (p.Ala866Asp) c.2570C>A (p.Ala857Asp) c.2447C>A (p.Ala816Asp) c.*52C>A (n.*52C>A) c.2465C>A (p.Ala822Asp) c.2342C>A (p.Ala781Asp) | |
21 | g.46549842C= | CA2392733479 | DIP2A | c.2594C= (p.Ala865=) c.2582C= (p.Ala861=) c.2702C= (p.Ala901=) c.2699C= (p.Ala900=) c.2597C= (p.Ala866=) c.2570C= (p.Ala857=) c.2447C= (p.Ala816=) c.*52C= (n.*52C=) c.2465C= (p.Ala822=) c.2342C= (p.Ala781=) | |
21 | g.46549842C>G | CA410583953 | DIP2A | c.2594C>G (p.Ala865Gly) c.2582C>G (p.Ala861Gly) c.2702C>G (p.Ala901Gly) c.2699C>G (p.Ala900Gly) c.2597C>G (p.Ala866Gly) c.2570C>G (p.Ala857Gly) c.2447C>G (p.Ala816Gly) c.*52C>G (n.*52C>G) c.2465C>G (p.Ala822Gly) c.2342C>G (p.Ala781Gly) | |
21 | g.46549842C>T | CA10082474 | DIP2A | c.2594C>T (p.Ala865Val) c.2582C>T (p.Ala861Val) c.2702C>T (p.Ala901Val) c.2699C>T (p.Ala900Val) c.2597C>T (p.Ala866Val) c.2570C>T (p.Ala857Val) c.2447C>T (p.Ala816Val) c.*52C>T (n.*52C>T) c.2465C>T (p.Ala822Val) c.2342C>T (p.Ala781Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549843C>A | CA512744141 | DIP2A | c.2595C>A (p.Ala865=) c.2583C>A (p.Ala861=) c.2703C>A (p.Ala901=) c.2700C>A (p.Ala900=) c.2598C>A (p.Ala866=) c.2571C>A (p.Ala857=) c.2448C>A (p.Ala816=) c.*53C>A (n.*53C>A) c.2466C>A (p.Ala822=) c.2343C>A (p.Ala781=) | |
21 | g.46549843C= | CA2392733480 | DIP2A | c.2595C= (p.Ala865=) c.2583C= (p.Ala861=) c.2703C= (p.Ala901=) c.2700C= (p.Ala900=) c.2598C= (p.Ala866=) c.2571C= (p.Ala857=) c.2448C= (p.Ala816=) c.*53C= (n.*53C=) c.2466C= (p.Ala822=) c.2343C= (p.Ala781=) | |
21 | g.46549843C>G | CA512744139 | DIP2A | c.2595C>G (p.Ala865=) c.2583C>G (p.Ala861=) c.2703C>G (p.Ala901=) c.2700C>G (p.Ala900=) c.2598C>G (p.Ala866=) c.2571C>G (p.Ala857=) c.2448C>G (p.Ala816=) c.*53C>G (n.*53C>G) c.2466C>G (p.Ala822=) c.2343C>G (p.Ala781=) | |
21 | g.46549843C>T | CA10082475 | DIP2A | c.2595C>T (p.Ala865=) c.2583C>T (p.Ala861=) c.2703C>T (p.Ala901=) c.2700C>T (p.Ala900=) c.2598C>T (p.Ala866=) c.2571C>T (p.Ala857=) c.2448C>T (p.Ala816=) c.*53C>T (n.*53C>T) c.2466C>T (p.Ala822=) c.2343C>T (p.Ala781=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549844T>A | CA410583954 | DIP2A | c.2596T>A (p.Ser866Thr) c.2584T>A (p.Ser862Thr) c.2704T>A (p.Ser902Thr) c.2701T>A (p.Ser901Thr) c.2599T>A (p.Ser867Thr) c.2572T>A (p.Ser858Thr) c.2449T>A (p.Ser817Thr) c.*54T>A (n.*54T>A) c.2467T>A (p.Ser823Thr) c.2344T>A (p.Ser782Thr) | |
21 | g.46549844T>C | CA410583955 | DIP2A | c.2596T>C (p.Ser866Pro) c.2584T>C (p.Ser862Pro) c.2704T>C (p.Ser902Pro) c.2701T>C (p.Ser901Pro) c.2599T>C (p.Ser867Pro) c.2572T>C (p.Ser858Pro) c.2449T>C (p.Ser817Pro) c.*54T>C (n.*54T>C) c.2467T>C (p.Ser823Pro) c.2344T>C (p.Ser782Pro) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549844T>G | CA410583956 | DIP2A | c.2596T>G (p.Ser866Ala) c.2584T>G (p.Ser862Ala) c.2704T>G (p.Ser902Ala) c.2701T>G (p.Ser901Ala) c.2599T>G (p.Ser867Ala) c.2572T>G (p.Ser858Ala) c.2449T>G (p.Ser817Ala) c.*54T>G (n.*54T>G) c.2467T>G (p.Ser823Ala) c.2344T>G (p.Ser782Ala) | |
21 | g.46549844T= | CA2392733481 | DIP2A | c.2596T= (p.Ser866=) c.2584T= (p.Ser862=) c.2704T= (p.Ser902=) c.2701T= (p.Ser901=) c.2599T= (p.Ser867=) c.2572T= (p.Ser858=) c.2449T= (p.Ser817=) c.*54T= (n.*54T=) c.2467T= (p.Ser823=) c.2344T= (p.Ser782=) | |
21 | g.46549845C>A | CA410583957 | DIP2A | c.2597C>A (p.Ser866Ter) c.2585C>A (p.Ser862Ter) c.2705C>A (p.Ser902Ter) c.2702C>A (p.Ser901Ter) c.2600C>A (p.Ser867Ter) c.2573C>A (p.Ser858Ter) c.2450C>A (p.Ser817Ter) c.*55C>A (n.*55C>A) c.2468C>A (p.Ser823Ter) c.2345C>A (p.Ser782Ter) | |
21 | g.46549845C= | CA2392733482 | DIP2A | c.2597C= (p.Ser866=) c.2585C= (p.Ser862=) c.2705C= (p.Ser902=) c.2702C= (p.Ser901=) c.2600C= (p.Ser867=) c.2573C= (p.Ser858=) c.2450C= (p.Ser817=) c.*55C= (n.*55C=) c.2468C= (p.Ser823=) c.2345C= (p.Ser782=) | |
21 | g.46549845C>G | CA10082477 | DIP2A | c.2597C>G (p.Ser866Trp) c.2585C>G (p.Ser862Trp) c.2705C>G (p.Ser902Trp) c.2702C>G (p.Ser901Trp) c.2600C>G (p.Ser867Trp) c.2573C>G (p.Ser858Trp) c.2450C>G (p.Ser817Trp) c.*55C>G (n.*55C>G) c.2468C>G (p.Ser823Trp) c.2345C>G (p.Ser782Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549845C>T | CA10082476 | DIP2A | c.2597C>T (p.Ser866Leu) c.2585C>T (p.Ser862Leu) c.2705C>T (p.Ser902Leu) c.2702C>T (p.Ser901Leu) c.2600C>T (p.Ser867Leu) c.2573C>T (p.Ser858Leu) c.2450C>T (p.Ser817Leu) c.*55C>T (n.*55C>T) c.2468C>T (p.Ser823Leu) c.2345C>T (p.Ser782Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549846G>A | CA10082478 | DIP2A | c.2598G>A (p.Ser866=) c.2586G>A (p.Ser862=) c.2706G>A (p.Ser902=) c.2703G>A (p.Ser901=) c.2601G>A (p.Ser867=) c.2574G>A (p.Ser858=) c.2451G>A (p.Ser817=) c.*56G>A (n.*56G>A) c.2469G>A (p.Ser823=) c.2346G>A (p.Ser782=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549846G>C | CA512744160 | DIP2A | c.2598G>C (p.Ser866=) c.2586G>C (p.Ser862=) c.2706G>C (p.Ser902=) c.2703G>C (p.Ser901=) c.2601G>C (p.Ser867=) c.2574G>C (p.Ser858=) c.2451G>C (p.Ser817=) c.*56G>C (n.*56G>C) c.2469G>C (p.Ser823=) c.2346G>C (p.Ser782=) | |
21 | g.46549846G= | CA2392733483 | DIP2A | c.2598G= (p.Ser866=) c.2586G= (p.Ser862=) c.2706G= (p.Ser902=) c.2703G= (p.Ser901=) c.2601G= (p.Ser867=) c.2574G= (p.Ser858=) c.2451G= (p.Ser817=) c.*56G= (n.*56G=) c.2469G= (p.Ser823=) c.2346G= (p.Ser782=) | |
21 | g.46549846G>T | CA512744158 | DIP2A | c.2598G>T (p.Ser866=) c.2586G>T (p.Ser862=) c.2706G>T (p.Ser902=) c.2703G>T (p.Ser901=) c.2601G>T (p.Ser867=) c.2574G>T (p.Ser858=) c.2451G>T (p.Ser817=) c.*56G>T (n.*56G>T) c.2469G>T (p.Ser823=) c.2346G>T (p.Ser782=) | |
21 | g.46549852_46549854del | CA2655037513 | DIP2A | c.2604_2606del (p.Glu868del) c.2592_2594del (p.Glu864del) c.2712_2714del (p.Glu904del) c.2709_2711del (p.Glu903del) c.2607_2609del (p.Glu869del) c.2580_2582del (p.Glu860del) c.2457_2459del (p.Glu819del) c.*62_*64del (n.*62_*64del) c.2475_2477del (p.Glu825del) c.2352_2354del (p.Glu784del) | gnomAD v4 |
21 | g.46549847G>A | CA410583958 | DIP2A | c.2599G>A (p.Glu867Lys) c.2587G>A (p.Glu863Lys) c.2707G>A (p.Glu903Lys) c.2704G>A (p.Glu902Lys) c.2602G>A (p.Glu868Lys) c.2575G>A (p.Glu859Lys) c.2452G>A (p.Glu818Lys) c.*57G>A (n.*57G>A) c.2470G>A (p.Glu824Lys) c.2347G>A (p.Glu783Lys) | |
21 | g.46549847G>C | CA410583959 | DIP2A | c.2599G>C (p.Glu867Gln) c.2587G>C (p.Glu863Gln) c.2707G>C (p.Glu903Gln) c.2704G>C (p.Glu902Gln) c.2602G>C (p.Glu868Gln) c.2575G>C (p.Glu859Gln) c.2452G>C (p.Glu818Gln) c.*57G>C (n.*57G>C) c.2470G>C (p.Glu824Gln) c.2347G>C (p.Glu783Gln) | |
21 | g.46549847G>T | CA410583960 | DIP2A | c.2599G>T (p.Glu867Ter) c.2587G>T (p.Glu863Ter) c.2707G>T (p.Glu903Ter) c.2704G>T (p.Glu902Ter) c.2602G>T (p.Glu868Ter) c.2575G>T (p.Glu859Ter) c.2452G>T (p.Glu818Ter) c.*57G>T (n.*57G>T) c.2470G>T (p.Glu824Ter) c.2347G>T (p.Glu783Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549848A>C | CA410583961 | DIP2A | c.2600A>C (p.Glu867Ala) c.2588A>C (p.Glu863Ala) c.2708A>C (p.Glu903Ala) c.2705A>C (p.Glu902Ala) c.2603A>C (p.Glu868Ala) c.2576A>C (p.Glu859Ala) c.2453A>C (p.Glu818Ala) c.*58A>C (n.*58A>C) c.2471A>C (p.Glu824Ala) c.2348A>C (p.Glu783Ala) | |
21 | g.46549848A>G | CA410583962 | DIP2A | c.2600A>G (p.Glu867Gly) c.2588A>G (p.Glu863Gly) c.2708A>G (p.Glu903Gly) c.2705A>G (p.Glu902Gly) c.2603A>G (p.Glu868Gly) c.2576A>G (p.Glu859Gly) c.2453A>G (p.Glu818Gly) c.*58A>G (n.*58A>G) c.2471A>G (p.Glu824Gly) c.2348A>G (p.Glu783Gly) | |
21 | g.46549848A>T | CA410583963 | DIP2A | c.2600A>T (p.Glu867Val) c.2588A>T (p.Glu863Val) c.2708A>T (p.Glu903Val) c.2705A>T (p.Glu902Val) c.2603A>T (p.Glu868Val) c.2576A>T (p.Glu859Val) c.2453A>T (p.Glu818Val) c.*58A>T (n.*58A>T) c.2471A>T (p.Glu824Val) c.2348A>T (p.Glu783Val) | |
21 | g.46549849G>A | CA512744179 | DIP2A | c.2601G>A (p.Glu867=) c.2589G>A (p.Glu863=) c.2709G>A (p.Glu903=) c.2706G>A (p.Glu902=) c.2604G>A (p.Glu868=) c.2577G>A (p.Glu859=) c.2454G>A (p.Glu818=) c.*59G>A (n.*59G>A) c.2472G>A (p.Glu824=) c.2349G>A (p.Glu783=) | |
21 | g.46549849G>C | CA410583964 | DIP2A | c.2601G>C (p.Glu867Asp) c.2589G>C (p.Glu863Asp) c.2709G>C (p.Glu903Asp) c.2706G>C (p.Glu902Asp) c.2604G>C (p.Glu868Asp) c.2577G>C (p.Glu859Asp) c.2454G>C (p.Glu818Asp) c.*59G>C (n.*59G>C) c.2472G>C (p.Glu824Asp) c.2349G>C (p.Glu783Asp) | |
21 | g.46549849G>T | CA410583965 | DIP2A | c.2601G>T (p.Glu867Asp) c.2589G>T (p.Glu863Asp) c.2709G>T (p.Glu903Asp) c.2706G>T (p.Glu902Asp) c.2604G>T (p.Glu868Asp) c.2577G>T (p.Glu859Asp) c.2454G>T (p.Glu818Asp) c.*59G>T (n.*59G>T) c.2472G>T (p.Glu824Asp) c.2349G>T (p.Glu783Asp) | gnomAD v4 |
21 | g.46549850G>A | CA410583966 | DIP2A | c.2602G>A (p.Glu868Lys) c.2590G>A (p.Glu864Lys) c.2710G>A (p.Glu904Lys) c.2707G>A (p.Glu903Lys) c.2605G>A (p.Glu869Lys) c.2578G>A (p.Glu860Lys) c.2455G>A (p.Glu819Lys) c.*60G>A (n.*60G>A) c.2473G>A (p.Glu825Lys) c.2350G>A (p.Glu784Lys) | |
21 | g.46549850G>C | CA410583967 | DIP2A | c.2602G>C (p.Glu868Gln) c.2590G>C (p.Glu864Gln) c.2710G>C (p.Glu904Gln) c.2707G>C (p.Glu903Gln) c.2605G>C (p.Glu869Gln) c.2578G>C (p.Glu860Gln) c.2455G>C (p.Glu819Gln) c.*60G>C (n.*60G>C) c.2473G>C (p.Glu825Gln) c.2350G>C (p.Glu784Gln) | |
21 | g.46549850G= | CA2392733484 | DIP2A | c.2602G= (p.Glu868=) c.2590G= (p.Glu864=) c.2710G= (p.Glu904=) c.2707G= (p.Glu903=) c.2605G= (p.Glu869=) c.2578G= (p.Glu860=) c.2455G= (p.Glu819=) c.*60G= (n.*60G=) c.2473G= (p.Glu825=) c.2350G= (p.Glu784=) | |
21 | g.46549850G>T | CA10082479 | DIP2A | c.2602G>T (p.Glu868Ter) c.2590G>T (p.Glu864Ter) c.2710G>T (p.Glu904Ter) c.2707G>T (p.Glu903Ter) c.2605G>T (p.Glu869Ter) c.2578G>T (p.Glu860Ter) c.2455G>T (p.Glu819Ter) c.*60G>T (n.*60G>T) c.2473G>T (p.Glu825Ter) c.2350G>T (p.Glu784Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549851A= | CA2392733485 | DIP2A | c.2603A= (p.Glu868=) c.2591A= (p.Glu864=) c.2711A= (p.Glu904=) c.2708A= (p.Glu903=) c.2606A= (p.Glu869=) c.2579A= (p.Glu860=) c.2456A= (p.Glu819=) c.*61A= (n.*61A=) c.2474A= (p.Glu825=) c.2351A= (p.Glu784=) | |
21 | g.46549851A>C | CA410583969 | DIP2A | c.2603A>C (p.Glu868Ala) c.2591A>C (p.Glu864Ala) c.2711A>C (p.Glu904Ala) c.2708A>C (p.Glu903Ala) c.2606A>C (p.Glu869Ala) c.2579A>C (p.Glu860Ala) c.2456A>C (p.Glu819Ala) c.*61A>C (n.*61A>C) c.2474A>C (p.Glu825Ala) c.2351A>C (p.Glu784Ala) | |
21 | g.46549851A>G | CA410583968 | DIP2A | c.2603A>G (p.Glu868Gly) c.2591A>G (p.Glu864Gly) c.2711A>G (p.Glu904Gly) c.2708A>G (p.Glu903Gly) c.2606A>G (p.Glu869Gly) c.2579A>G (p.Glu860Gly) c.2456A>G (p.Glu819Gly) c.*61A>G (n.*61A>G) c.2474A>G (p.Glu825Gly) c.2351A>G (p.Glu784Gly) | |
21 | g.46549851A>T | CA10082480 | DIP2A | c.2603A>T (p.Glu868Val) c.2591A>T (p.Glu864Val) c.2711A>T (p.Glu904Val) c.2708A>T (p.Glu903Val) c.2606A>T (p.Glu869Val) c.2579A>T (p.Glu860Val) c.2456A>T (p.Glu819Val) c.*61A>T (n.*61A>T) c.2474A>T (p.Glu825Val) c.2351A>T (p.Glu784Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549852G>A | CA10082481 | DIP2A | c.2604G>A (p.Glu868=) c.2592G>A (p.Glu864=) c.2712G>A (p.Glu904=) c.2709G>A (p.Glu903=) c.2607G>A (p.Glu869=) c.2580G>A (p.Glu860=) c.2457G>A (p.Glu819=) c.*62G>A (n.*62G>A) c.2475G>A (p.Glu825=) c.2352G>A (p.Glu784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549852G>C | CA410583970 | DIP2A | c.2604G>C (p.Glu868Asp) c.2592G>C (p.Glu864Asp) c.2712G>C (p.Glu904Asp) c.2709G>C (p.Glu903Asp) c.2607G>C (p.Glu869Asp) c.2580G>C (p.Glu860Asp) c.2457G>C (p.Glu819Asp) c.*62G>C (n.*62G>C) c.2475G>C (p.Glu825Asp) c.2352G>C (p.Glu784Asp) | |
21 | g.46549852G= | CA2392733486 | DIP2A | c.2604G= (p.Glu868=) c.2592G= (p.Glu864=) c.2712G= (p.Glu904=) c.2709G= (p.Glu903=) c.2607G= (p.Glu869=) c.2580G= (p.Glu860=) c.2457G= (p.Glu819=) c.*62G= (n.*62G=) c.2475G= (p.Glu825=) c.2352G= (p.Glu784=) | |
21 | g.46549852G>T | CA410583971 | DIP2A | c.2604G>T (p.Glu868Asp) c.2592G>T (p.Glu864Asp) c.2712G>T (p.Glu904Asp) c.2709G>T (p.Glu903Asp) c.2607G>T (p.Glu869Asp) c.2580G>T (p.Glu860Asp) c.2457G>T (p.Glu819Asp) c.*62G>T (n.*62G>T) c.2475G>T (p.Glu825Asp) c.2352G>T (p.Glu784Asp) | gnomAD v4 |
21 | g.46549853G>A | CA410583972 | DIP2A | c.2605G>A (p.Asp869Asn) c.2593G>A (p.Asp865Asn) c.2713G>A (p.Asp905Asn) c.2710G>A (p.Asp904Asn) c.2608G>A (p.Asp870Asn) c.2581G>A (p.Asp861Asn) c.2458G>A (p.Asp820Asn) c.*63G>A (n.*63G>A) c.2476G>A (p.Asp826Asn) c.2353G>A (p.Asp785Asn) | dbSNP |
21 | g.46549853G>C | CA410583973 | DIP2A | c.2605G>C (p.Asp869His) c.2593G>C (p.Asp865His) c.2713G>C (p.Asp905His) c.2710G>C (p.Asp904His) c.2608G>C (p.Asp870His) c.2581G>C (p.Asp861His) c.2458G>C (p.Asp820His) c.*63G>C (n.*63G>C) c.2476G>C (p.Asp826His) c.2353G>C (p.Asp785His) | |
21 | g.46549853G= | CA2392733487 | DIP2A | c.2605G= (p.Asp869=) c.2593G= (p.Asp865=) c.2713G= (p.Asp905=) c.2710G= (p.Asp904=) c.2608G= (p.Asp870=) c.2581G= (p.Asp861=) c.2458G= (p.Asp820=) c.*63G= (n.*63G=) c.2476G= (p.Asp826=) c.2353G= (p.Asp785=) | |
21 | g.46549853G>T | CA410583974 | DIP2A | c.2605G>T (p.Asp869Tyr) c.2593G>T (p.Asp865Tyr) c.2713G>T (p.Asp905Tyr) c.2710G>T (p.Asp904Tyr) c.2608G>T (p.Asp870Tyr) c.2581G>T (p.Asp861Tyr) c.2458G>T (p.Asp820Tyr) c.*63G>T (n.*63G>T) c.2476G>T (p.Asp826Tyr) c.2353G>T (p.Asp785Tyr) | |
21 | g.46549854A= | CA2392733488 | DIP2A | c.2606A= (p.Asp869=) c.2594A= (p.Asp865=) c.2714A= (p.Asp905=) c.2711A= (p.Asp904=) c.2609A= (p.Asp870=) c.2582A= (p.Asp861=) c.2459A= (p.Asp820=) c.*64A= (n.*64A=) c.2477A= (p.Asp826=) c.2354A= (p.Asp785=) | |
21 | g.46549854A>C | CA410583975 | DIP2A | c.2606A>C (p.Asp869Ala) c.2594A>C (p.Asp865Ala) c.2714A>C (p.Asp905Ala) c.2711A>C (p.Asp904Ala) c.2609A>C (p.Asp870Ala) c.2582A>C (p.Asp861Ala) c.2459A>C (p.Asp820Ala) c.*64A>C (n.*64A>C) c.2477A>C (p.Asp826Ala) c.2354A>C (p.Asp785Ala) | |
21 | g.46549854A>G | CA10082482 | DIP2A | c.2606A>G (p.Asp869Gly) c.2594A>G (p.Asp865Gly) c.2714A>G (p.Asp905Gly) c.2711A>G (p.Asp904Gly) c.2609A>G (p.Asp870Gly) c.2582A>G (p.Asp861Gly) c.2459A>G (p.Asp820Gly) c.*64A>G (n.*64A>G) c.2477A>G (p.Asp826Gly) c.2354A>G (p.Asp785Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549854A>T | CA410583976 | DIP2A | c.2606A>T (p.Asp869Val) c.2594A>T (p.Asp865Val) c.2714A>T (p.Asp905Val) c.2711A>T (p.Asp904Val) c.2609A>T (p.Asp870Val) c.2582A>T (p.Asp861Val) c.2459A>T (p.Asp820Val) c.*64A>T (n.*64A>T) c.2477A>T (p.Asp826Val) c.2354A>T (p.Asp785Val) | |
21 | g.46549855C>A | CA410583977 | DIP2A | c.2607C>A (p.Asp869Glu) c.2595C>A (p.Asp865Glu) c.2715C>A (p.Asp905Glu) c.2712C>A (p.Asp904Glu) c.2610C>A (p.Asp870Glu) c.2583C>A (p.Asp861Glu) c.2460C>A (p.Asp820Glu) c.*65C>A (n.*65C>A) c.2478C>A (p.Asp826Glu) c.2355C>A (p.Asp785Glu) | |
21 | g.46549855C= | CA2392733489 | DIP2A | c.2607C= (p.Asp869=) c.2595C= (p.Asp865=) c.2715C= (p.Asp905=) c.2712C= (p.Asp904=) c.2610C= (p.Asp870=) c.2583C= (p.Asp861=) c.2460C= (p.Asp820=) c.*65C= (n.*65C=) c.2478C= (p.Asp826=) c.2355C= (p.Asp785=) | |
21 | g.46549855C>G | CA410583978 | DIP2A | c.2607C>G (p.Asp869Glu) c.2595C>G (p.Asp865Glu) c.2715C>G (p.Asp905Glu) c.2712C>G (p.Asp904Glu) c.2610C>G (p.Asp870Glu) c.2583C>G (p.Asp861Glu) c.2460C>G (p.Asp820Glu) c.*65C>G (n.*65C>G) c.2478C>G (p.Asp826Glu) c.2355C>G (p.Asp785Glu) | |
21 | g.46549855C>T | CA512744207 | DIP2A | c.2607C>T (p.Asp869=) c.2595C>T (p.Asp865=) c.2715C>T (p.Asp905=) c.2712C>T (p.Asp904=) c.2610C>T (p.Asp870=) c.2583C>T (p.Asp861=) c.2460C>T (p.Asp820=) c.*65C>T (n.*65C>T) c.2478C>T (p.Asp826=) c.2355C>T (p.Asp785=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549856A>C | CA410583979 | DIP2A | c.2608A>C (p.Ser870Arg) c.2596A>C (p.Ser866Arg) c.2716A>C (p.Ser906Arg) c.2713A>C (p.Ser905Arg) c.2611A>C (p.Ser871Arg) c.2584A>C (p.Ser862Arg) c.2461A>C (p.Ser821Arg) c.*66A>C (n.*66A>C) c.2479A>C (p.Ser827Arg) c.2356A>C (p.Ser786Arg) | |
21 | g.46549856A>G | CA410583980 | DIP2A | c.2608A>G (p.Ser870Gly) c.2596A>G (p.Ser866Gly) c.2716A>G (p.Ser906Gly) c.2713A>G (p.Ser905Gly) c.2611A>G (p.Ser871Gly) c.2584A>G (p.Ser862Gly) c.2461A>G (p.Ser821Gly) c.*66A>G (n.*66A>G) c.2479A>G (p.Ser827Gly) c.2356A>G (p.Ser786Gly) | |
21 | g.46549856A>T | CA410583981 | DIP2A | c.2608A>T (p.Ser870Cys) c.2596A>T (p.Ser866Cys) c.2716A>T (p.Ser906Cys) c.2713A>T (p.Ser905Cys) c.2611A>T (p.Ser871Cys) c.2584A>T (p.Ser862Cys) c.2461A>T (p.Ser821Cys) c.*66A>T (n.*66A>T) c.2479A>T (p.Ser827Cys) c.2356A>T (p.Ser786Cys) | |
21 | g.46549857G>A | CA410583982 | DIP2A | c.2609G>A (p.Ser870Asn) c.2597G>A (p.Ser866Asn) c.2717G>A (p.Ser906Asn) c.2714G>A (p.Ser905Asn) c.2612G>A (p.Ser871Asn) c.2585G>A (p.Ser862Asn) c.2462G>A (p.Ser821Asn) c.*67G>A (n.*67G>A) c.2480G>A (p.Ser827Asn) c.2357G>A (p.Ser786Asn) | gnomAD v4 COSMIC |
21 | g.46549857G>C | CA410583983 | DIP2A | c.2609G>C (p.Ser870Thr) c.2597G>C (p.Ser866Thr) c.2717G>C (p.Ser906Thr) c.2714G>C (p.Ser905Thr) c.2612G>C (p.Ser871Thr) c.2585G>C (p.Ser862Thr) c.2462G>C (p.Ser821Thr) c.*67G>C (n.*67G>C) c.2480G>C (p.Ser827Thr) c.2357G>C (p.Ser786Thr) | gnomAD v4 |
21 | g.46549857G>T | CA410583984 | DIP2A | c.2609G>T (p.Ser870Ile) c.2597G>T (p.Ser866Ile) c.2717G>T (p.Ser906Ile) c.2714G>T (p.Ser905Ile) c.2612G>T (p.Ser871Ile) c.2585G>T (p.Ser862Ile) c.2462G>T (p.Ser821Ile) c.*67G>T (n.*67G>T) c.2480G>T (p.Ser827Ile) c.2357G>T (p.Ser786Ile) | gnomAD v4 |
21 | g.46549858C>A | CA410583985 | DIP2A | c.2610C>A (p.Ser870Arg) c.2598C>A (p.Ser866Arg) c.2718C>A (p.Ser906Arg) c.2715C>A (p.Ser905Arg) c.2613C>A (p.Ser871Arg) c.2586C>A (p.Ser862Arg) c.2463C>A (p.Ser821Arg) c.*68C>A (n.*68C>A) c.2481C>A (p.Ser827Arg) c.2358C>A (p.Ser786Arg) | |
21 | g.46549858C= | CA2392733490 | DIP2A | c.2610C= (p.Ser870=) c.2598C= (p.Ser866=) c.2718C= (p.Ser906=) c.2715C= (p.Ser905=) c.2613C= (p.Ser871=) c.2586C= (p.Ser862=) c.2463C= (p.Ser821=) c.*68C= (n.*68C=) c.2481C= (p.Ser827=) c.2358C= (p.Ser786=) | |
21 | g.46549858C>G | CA410583986 | DIP2A | c.2610C>G (p.Ser870Arg) c.2598C>G (p.Ser866Arg) c.2718C>G (p.Ser906Arg) c.2715C>G (p.Ser905Arg) c.2613C>G (p.Ser871Arg) c.2586C>G (p.Ser862Arg) c.2463C>G (p.Ser821Arg) c.*68C>G (n.*68C>G) c.2481C>G (p.Ser827Arg) c.2358C>G (p.Ser786Arg) | |
21 | g.46549858C>T | CA512744243 | DIP2A | c.2610C>T (p.Ser870=) c.2598C>T (p.Ser866=) c.2718C>T (p.Ser906=) c.2715C>T (p.Ser905=) c.2613C>T (p.Ser871=) c.2586C>T (p.Ser862=) c.2463C>T (p.Ser821=) c.*68C>T (n.*68C>T) c.2481C>T (p.Ser827=) c.2358C>T (p.Ser786=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549859T>A | CA410583987 | DIP2A | c.2611T>A (p.Phe871Ile) c.2599T>A (p.Phe867Ile) c.2719T>A (p.Phe907Ile) c.2716T>A (p.Phe906Ile) c.2614T>A (p.Phe872Ile) c.2587T>A (p.Phe863Ile) c.2464T>A (p.Phe822Ile) c.*69T>A (n.*69T>A) c.2482T>A (p.Phe828Ile) c.2359T>A (p.Phe787Ile) | |
21 | g.46549859T>C | CA410583988 | DIP2A | c.2611T>C (p.Phe871Leu) c.2599T>C (p.Phe867Leu) c.2719T>C (p.Phe907Leu) c.2716T>C (p.Phe906Leu) c.2614T>C (p.Phe872Leu) c.2587T>C (p.Phe863Leu) c.2464T>C (p.Phe822Leu) c.*69T>C (n.*69T>C) c.2482T>C (p.Phe828Leu) c.2359T>C (p.Phe787Leu) | |
21 | g.46549859T>G | CA410583989 | DIP2A | c.2611T>G (p.Phe871Val) c.2599T>G (p.Phe867Val) c.2719T>G (p.Phe907Val) c.2716T>G (p.Phe906Val) c.2614T>G (p.Phe872Val) c.2587T>G (p.Phe863Val) c.2464T>G (p.Phe822Val) c.*69T>G (n.*69T>G) c.2482T>G (p.Phe828Val) c.2359T>G (p.Phe787Val) | |
21 | g.46549860T>A | CA410583990 | DIP2A | c.2612T>A (p.Phe871Tyr) c.2600T>A (p.Phe867Tyr) c.2720T>A (p.Phe907Tyr) c.2717T>A (p.Phe906Tyr) c.2615T>A (p.Phe872Tyr) c.2588T>A (p.Phe863Tyr) c.2465T>A (p.Phe822Tyr) c.*70T>A (n.*70T>A) c.2483T>A (p.Phe828Tyr) c.2360T>A (p.Phe787Tyr) | |
21 | g.46549860T>C | CA410583991 | DIP2A | c.2612T>C (p.Phe871Ser) c.2600T>C (p.Phe867Ser) c.2720T>C (p.Phe907Ser) c.2717T>C (p.Phe906Ser) c.2615T>C (p.Phe872Ser) c.2588T>C (p.Phe863Ser) c.2465T>C (p.Phe822Ser) c.*70T>C (n.*70T>C) c.2483T>C (p.Phe828Ser) c.2360T>C (p.Phe787Ser) | |
21 | g.46549860T>G | CA410583992 | DIP2A | c.2612T>G (p.Phe871Cys) c.2600T>G (p.Phe867Cys) c.2720T>G (p.Phe907Cys) c.2717T>G (p.Phe906Cys) c.2615T>G (p.Phe872Cys) c.2588T>G (p.Phe863Cys) c.2465T>G (p.Phe822Cys) c.*70T>G (n.*70T>G) c.2483T>G (p.Phe828Cys) c.2360T>G (p.Phe787Cys) | |
21 | g.46549861C>A | CA410583993 | DIP2A | c.2613C>A (p.Phe871Leu) c.2601C>A (p.Phe867Leu) c.2721C>A (p.Phe907Leu) c.2718C>A (p.Phe906Leu) c.2616C>A (p.Phe872Leu) c.2589C>A (p.Phe863Leu) c.2466C>A (p.Phe822Leu) c.*71C>A (n.*71C>A) c.2484C>A (p.Phe828Leu) c.2361C>A (p.Phe787Leu) | dbSNP gnomAD v2 |
21 | g.46549861C= | CA2392733491 | DIP2A | c.2613C= (p.Phe871=) c.2601C= (p.Phe867=) c.2721C= (p.Phe907=) c.2718C= (p.Phe906=) c.2616C= (p.Phe872=) c.2589C= (p.Phe863=) c.2466C= (p.Phe822=) c.*71C= (n.*71C=) c.2484C= (p.Phe828=) c.2361C= (p.Phe787=) | |
21 | g.46549861C>G | CA410583994 | DIP2A | c.2613C>G (p.Phe871Leu) c.2601C>G (p.Phe867Leu) c.2721C>G (p.Phe907Leu) c.2718C>G (p.Phe906Leu) c.2616C>G (p.Phe872Leu) c.2589C>G (p.Phe863Leu) c.2466C>G (p.Phe822Leu) c.*71C>G (n.*71C>G) c.2484C>G (p.Phe828Leu) c.2361C>G (p.Phe787Leu) | |
21 | g.46549861C>T | CA512744264 | DIP2A | c.2613C>T (p.Phe871=) c.2601C>T (p.Phe867=) c.2721C>T (p.Phe907=) c.2718C>T (p.Phe906=) c.2616C>T (p.Phe872=) c.2589C>T (p.Phe863=) c.2466C>T (p.Phe822=) c.*71C>T (n.*71C>T) c.2484C>T (p.Phe828=) c.2361C>T (p.Phe787=) | COSMIC COSMIC COSMIC COSMIC |
21 | g.46549862C>A | CA410583995 | DIP2A | c.2614C>A (p.Gln872Lys) c.2602C>A (p.Gln868Lys) c.2722C>A (p.Gln908Lys) c.2719C>A (p.Gln907Lys) c.2617C>A (p.Gln873Lys) c.2590C>A (p.Gln864Lys) c.2467C>A (p.Gln823Lys) c.*72C>A (n.*72C>A) c.2485C>A (p.Gln829Lys) c.2362C>A (p.Gln788Lys) | |
21 | g.46549862C= | CA2392733492 | DIP2A | c.2614C= (p.Gln872=) c.2602C= (p.Gln868=) c.2722C= (p.Gln908=) c.2719C= (p.Gln907=) c.2617C= (p.Gln873=) c.2590C= (p.Gln864=) c.2467C= (p.Gln823=) c.*72C= (n.*72C=) c.2485C= (p.Gln829=) c.2362C= (p.Gln788=) | |
21 | g.46549862C>G | CA410583996 | DIP2A | c.2614C>G (p.Gln872Glu) c.2602C>G (p.Gln868Glu) c.2722C>G (p.Gln908Glu) c.2719C>G (p.Gln907Glu) c.2617C>G (p.Gln873Glu) c.2590C>G (p.Gln864Glu) c.2467C>G (p.Gln823Glu) c.*72C>G (n.*72C>G) c.2485C>G (p.Gln829Glu) c.2362C>G (p.Gln788Glu) | |
21 | g.46549862C>T | CA410583997 | DIP2A | c.2614C>T (p.Gln872Ter) c.2602C>T (p.Gln868Ter) c.2722C>T (p.Gln908Ter) c.2719C>T (p.Gln907Ter) c.2617C>T (p.Gln873Ter) c.2590C>T (p.Gln864Ter) c.2467C>T (p.Gln823Ter) c.*72C>T (n.*72C>T) c.2485C>T (p.Gln829Ter) c.2362C>T (p.Gln788Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549863A>C | CA410584000 | DIP2A | c.2615A>C (p.Gln872Pro) c.2603A>C (p.Gln868Pro) c.2723A>C (p.Gln908Pro) c.2720A>C (p.Gln907Pro) c.2618A>C (p.Gln873Pro) c.2591A>C (p.Gln864Pro) c.2468A>C (p.Gln823Pro) c.*73A>C (n.*73A>C) c.2486A>C (p.Gln829Pro) c.2363A>C (p.Gln788Pro) | |
21 | g.46549863A>G | CA410583999 | DIP2A | c.2615A>G (p.Gln872Arg) c.2603A>G (p.Gln868Arg) c.2723A>G (p.Gln908Arg) c.2720A>G (p.Gln907Arg) c.2618A>G (p.Gln873Arg) c.2591A>G (p.Gln864Arg) c.2468A>G (p.Gln823Arg) c.*73A>G (n.*73A>G) c.2486A>G (p.Gln829Arg) c.2363A>G (p.Gln788Arg) | |
21 | g.46549863A>T | CA410583998 | DIP2A | c.2615A>T (p.Gln872Leu) c.2603A>T (p.Gln868Leu) c.2723A>T (p.Gln908Leu) c.2720A>T (p.Gln907Leu) c.2618A>T (p.Gln873Leu) c.2591A>T (p.Gln864Leu) c.2468A>T (p.Gln823Leu) c.*73A>T (n.*73A>T) c.2486A>T (p.Gln829Leu) c.2363A>T (p.Gln788Leu) | |
21 | g.46549864G>A | CA512744281 | DIP2A | c.2616G>A (p.Gln872=) c.2604G>A (p.Gln868=) c.2724G>A (p.Gln908=) c.2721G>A (p.Gln907=) c.2619G>A (p.Gln873=) c.2592G>A (p.Gln864=) c.2469G>A (p.Gln823=) c.*74G>A (n.*74G>A) c.2487G>A (p.Gln829=) c.2364G>A (p.Gln788=) | gnomAD v4 |
21 | g.46549864G>C | CA410584001 | DIP2A | c.2616G>C (p.Gln872His) c.2604G>C (p.Gln868His) c.2724G>C (p.Gln908His) c.2721G>C (p.Gln907His) c.2619G>C (p.Gln873His) c.2592G>C (p.Gln864His) c.2469G>C (p.Gln823His) c.*74G>C (n.*74G>C) c.2487G>C (p.Gln829His) c.2364G>C (p.Gln788His) | dbSNP gnomAD v4 |
21 | g.46549864G= | CA2392733493 | DIP2A | c.2616G= (p.Gln872=) c.2604G= (p.Gln868=) c.2724G= (p.Gln908=) c.2721G= (p.Gln907=) c.2619G= (p.Gln873=) c.2592G= (p.Gln864=) c.2469G= (p.Gln823=) c.*74G= (n.*74G=) c.2487G= (p.Gln829=) c.2364G= (p.Gln788=) | |
21 | g.46549864G>T | CA410584002 | DIP2A | c.2616G>T (p.Gln872His) c.2604G>T (p.Gln868His) c.2724G>T (p.Gln908His) c.2721G>T (p.Gln907His) c.2619G>T (p.Gln873His) c.2592G>T (p.Gln864His) c.2469G>T (p.Gln823His) c.*74G>T (n.*74G>T) c.2487G>T (p.Gln829His) c.2364G>T (p.Gln788His) | gnomAD v4 |
21 | g.46549865T>A | CA410584003 | DIP2A | c.2617T>A (p.Trp873Arg) c.2605T>A (p.Trp869Arg) c.2725T>A (p.Trp909Arg) c.2722T>A (p.Trp908Arg) c.2620T>A (p.Trp874Arg) c.2593T>A (p.Trp865Arg) c.2470T>A (p.Trp824Arg) c.*75T>A (n.*75T>A) c.2488T>A (p.Trp830Arg) c.2365T>A (p.Trp789Arg) | |
21 | g.46549865T>C | CA410584004 | DIP2A | c.2617T>C (p.Trp873Arg) c.2605T>C (p.Trp869Arg) c.2725T>C (p.Trp909Arg) c.2722T>C (p.Trp908Arg) c.2620T>C (p.Trp874Arg) c.2593T>C (p.Trp865Arg) c.2470T>C (p.Trp824Arg) c.*75T>C (n.*75T>C) c.2488T>C (p.Trp830Arg) c.2365T>C (p.Trp789Arg) | |
21 | g.46549865T>G | CA410584005 | DIP2A | c.2617T>G (p.Trp873Gly) c.2605T>G (p.Trp869Gly) c.2725T>G (p.Trp909Gly) c.2722T>G (p.Trp908Gly) c.2620T>G (p.Trp874Gly) c.2593T>G (p.Trp865Gly) c.2470T>G (p.Trp824Gly) c.*75T>G (n.*75T>G) c.2488T>G (p.Trp830Gly) c.2365T>G (p.Trp789Gly) | |
21 | g.46549866G>A | CA410584008 | DIP2A | c.2618G>A (p.Trp873Ter) c.2606G>A (p.Trp869Ter) c.2726G>A (p.Trp909Ter) c.2723G>A (p.Trp908Ter) c.2621G>A (p.Trp874Ter) c.2594G>A (p.Trp865Ter) c.2471G>A (p.Trp824Ter) c.*76G>A (n.*76G>A) c.2489G>A (p.Trp830Ter) c.2366G>A (p.Trp789Ter) | |
21 | g.46549866G>C | CA410584007 | DIP2A | c.2618G>C (p.Trp873Ser) c.2606G>C (p.Trp869Ser) c.2726G>C (p.Trp909Ser) c.2723G>C (p.Trp908Ser) c.2621G>C (p.Trp874Ser) c.2594G>C (p.Trp865Ser) c.2471G>C (p.Trp824Ser) c.*76G>C (n.*76G>C) c.2489G>C (p.Trp830Ser) c.2366G>C (p.Trp789Ser) | |
21 | g.46549866G>T | CA410584006 | DIP2A | c.2618G>T (p.Trp873Leu) c.2606G>T (p.Trp869Leu) c.2726G>T (p.Trp909Leu) c.2723G>T (p.Trp908Leu) c.2621G>T (p.Trp874Leu) c.2594G>T (p.Trp865Leu) c.2471G>T (p.Trp824Leu) c.*76G>T (n.*76G>T) c.2489G>T (p.Trp830Leu) c.2366G>T (p.Trp789Leu) | gnomAD v4 |
21 | g.46549867G>A | CA410584009 | DIP2A | c.2619G>A (p.Trp873Ter) c.2607G>A (p.Trp869Ter) c.2727G>A (p.Trp909Ter) c.2724G>A (p.Trp908Ter) c.2622G>A (p.Trp874Ter) c.2595G>A (p.Trp865Ter) c.2472G>A (p.Trp824Ter) c.*77G>A (n.*77G>A) c.2490G>A (p.Trp830Ter) c.2367G>A (p.Trp789Ter) | dbSNP gnomAD v4 |
21 | g.46549867G>C | CA410584010 | DIP2A | c.2619G>C (p.Trp873Cys) c.2607G>C (p.Trp869Cys) c.2727G>C (p.Trp909Cys) c.2724G>C (p.Trp908Cys) c.2622G>C (p.Trp874Cys) c.2595G>C (p.Trp865Cys) c.2472G>C (p.Trp824Cys) c.*77G>C (n.*77G>C) c.2490G>C (p.Trp830Cys) c.2367G>C (p.Trp789Cys) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549867G= | CA2392733494 | DIP2A | c.2619G= (p.Trp873=) c.2607G= (p.Trp869=) c.2727G= (p.Trp909=) c.2724G= (p.Trp908=) c.2622G= (p.Trp874=) c.2595G= (p.Trp865=) c.2472G= (p.Trp824=) c.*77G= (n.*77G=) c.2490G= (p.Trp830=) c.2367G= (p.Trp789=) | |
21 | g.46549867G>T | CA410584011 | DIP2A | c.2619G>T (p.Trp873Cys) c.2607G>T (p.Trp869Cys) c.2727G>T (p.Trp909Cys) c.2724G>T (p.Trp908Cys) c.2622G>T (p.Trp874Cys) c.2595G>T (p.Trp865Cys) c.2472G>T (p.Trp824Cys) c.*77G>T (n.*77G>T) c.2490G>T (p.Trp830Cys) c.2367G>T (p.Trp789Cys) | gnomAD v4 |
21 | g.46549868A>C | CA410584012 | DIP2A | c.2620A>C (p.Met874Leu) c.2608A>C (p.Met870Leu) c.2728A>C (p.Met910Leu) c.2725A>C (p.Met909Leu) c.2623A>C (p.Met875Leu) c.2596A>C (p.Met866Leu) c.2473A>C (p.Met825Leu) c.*78A>C (n.*78A>C) c.2491A>C (p.Met831Leu) c.2368A>C (p.Met790Leu) | |
21 | g.46549868A>G | CA410584013 | DIP2A | c.2620A>G (p.Met874Val) c.2608A>G (p.Met870Val) c.2728A>G (p.Met910Val) c.2725A>G (p.Met909Val) c.2623A>G (p.Met875Val) c.2596A>G (p.Met866Val) c.2473A>G (p.Met825Val) c.*78A>G (n.*78A>G) c.2491A>G (p.Met831Val) c.2368A>G (p.Met790Val) | gnomAD v4 |
21 | g.46549868A>T | CA410584014 | DIP2A | c.2620A>T (p.Met874Leu) c.2608A>T (p.Met870Leu) c.2728A>T (p.Met910Leu) c.2725A>T (p.Met909Leu) c.2623A>T (p.Met875Leu) c.2596A>T (p.Met866Leu) c.2473A>T (p.Met825Leu) c.*78A>T (n.*78A>T) c.2491A>T (p.Met831Leu) c.2368A>T (p.Met790Leu) | |
21 | g.46549869T>A | CA410584015 | DIP2A | c.2621T>A (p.Met874Lys) c.2609T>A (p.Met870Lys) c.2729T>A (p.Met910Lys) c.2726T>A (p.Met909Lys) c.2624T>A (p.Met875Lys) c.2597T>A (p.Met866Lys) c.2474T>A (p.Met825Lys) c.*79T>A (n.*79T>A) c.2492T>A (p.Met831Lys) c.2369T>A (p.Met790Lys) | |
21 | g.46549869T>C | CA410584017 | DIP2A | c.2621T>C (p.Met874Thr) c.2609T>C (p.Met870Thr) c.2729T>C (p.Met910Thr) c.2726T>C (p.Met909Thr) c.2624T>C (p.Met875Thr) c.2597T>C (p.Met866Thr) c.2474T>C (p.Met825Thr) c.*79T>C (n.*79T>C) c.2492T>C (p.Met831Thr) c.2369T>C (p.Met790Thr) | dbSNP gnomAD v4 |
21 | g.46549869T>G | CA410584016 | DIP2A | c.2621T>G (p.Met874Arg) c.2609T>G (p.Met870Arg) c.2729T>G (p.Met910Arg) c.2726T>G (p.Met909Arg) c.2624T>G (p.Met875Arg) c.2597T>G (p.Met866Arg) c.2474T>G (p.Met825Arg) c.*79T>G (n.*79T>G) c.2492T>G (p.Met831Arg) c.2369T>G (p.Met790Arg) | |
21 | g.46549869T= | CA2392733495 | DIP2A | c.2621T= (p.Met874=) c.2609T= (p.Met870=) c.2729T= (p.Met910=) c.2726T= (p.Met909=) c.2624T= (p.Met875=) c.2597T= (p.Met866=) c.2474T= (p.Met825=) c.*79T= (n.*79T=) c.2492T= (p.Met831=) c.2369T= (p.Met790=) | |
21 | g.46549870G>A | CA410584018 | DIP2A | c.2622G>A (p.Met874Ile) c.2610G>A (p.Met870Ile) c.2730G>A (p.Met910Ile) c.2727G>A (p.Met909Ile) c.2625G>A (p.Met875Ile) c.2598G>A (p.Met866Ile) c.2475G>A (p.Met825Ile) c.*80G>A (n.*80G>A) c.2493G>A (p.Met831Ile) c.2370G>A (p.Met790Ile) | |
21 | g.46549870G>C | CA410584019 | DIP2A | c.2622G>C (p.Met874Ile) c.2610G>C (p.Met870Ile) c.2730G>C (p.Met910Ile) c.2727G>C (p.Met909Ile) c.2625G>C (p.Met875Ile) c.2598G>C (p.Met866Ile) c.2475G>C (p.Met825Ile) c.*80G>C (n.*80G>C) c.2493G>C (p.Met831Ile) c.2370G>C (p.Met790Ile) | |
21 | g.46549870G>T | CA410584020 | DIP2A | c.2622G>T (p.Met874Ile) c.2610G>T (p.Met870Ile) c.2730G>T (p.Met910Ile) c.2727G>T (p.Met909Ile) c.2625G>T (p.Met875Ile) c.2598G>T (p.Met866Ile) c.2475G>T (p.Met825Ile) c.*80G>T (n.*80G>T) c.2493G>T (p.Met831Ile) c.2370G>T (p.Met790Ile) | |
21 | g.46549871A>C | CA410584021 | DIP2A | c.2623A>C (p.Ser875Arg) c.2611A>C (p.Ser871Arg) c.2731A>C (p.Ser911Arg) c.2728A>C (p.Ser910Arg) c.2626A>C (p.Ser876Arg) c.2599A>C (p.Ser867Arg) c.2476A>C (p.Ser826Arg) c.*81A>C (n.*81A>C) c.2494A>C (p.Ser832Arg) c.2371A>C (p.Ser791Arg) | |
21 | g.46549871A>G | CA410584022 | DIP2A | c.2623A>G (p.Ser875Gly) c.2611A>G (p.Ser871Gly) c.2731A>G (p.Ser911Gly) c.2728A>G (p.Ser910Gly) c.2626A>G (p.Ser876Gly) c.2599A>G (p.Ser867Gly) c.2476A>G (p.Ser826Gly) c.*81A>G (n.*81A>G) c.2494A>G (p.Ser832Gly) c.2371A>G (p.Ser791Gly) | gnomAD v4 |
21 | g.46549871A>T | CA410584023 | DIP2A | c.2623A>T (p.Ser875Cys) c.2611A>T (p.Ser871Cys) c.2731A>T (p.Ser911Cys) c.2728A>T (p.Ser910Cys) c.2626A>T (p.Ser876Cys) c.2599A>T (p.Ser867Cys) c.2476A>T (p.Ser826Cys) c.*81A>T (n.*81A>T) c.2494A>T (p.Ser832Cys) c.2371A>T (p.Ser791Cys) | |
21 | g.46549872G>A | CA410584024 | DIP2A | c.2624G>A (p.Ser875Asn) c.2612G>A (p.Ser871Asn) c.2732G>A (p.Ser911Asn) c.2729G>A (p.Ser910Asn) c.2627G>A (p.Ser876Asn) c.2600G>A (p.Ser867Asn) c.2477G>A (p.Ser826Asn) c.*82G>A (n.*82G>A) c.2495G>A (p.Ser832Asn) c.2372G>A (p.Ser791Asn) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549872G>C | CA410584025 | DIP2A | c.2624G>C (p.Ser875Thr) c.2612G>C (p.Ser871Thr) c.2732G>C (p.Ser911Thr) c.2729G>C (p.Ser910Thr) c.2627G>C (p.Ser876Thr) c.2600G>C (p.Ser867Thr) c.2477G>C (p.Ser826Thr) c.*82G>C (n.*82G>C) c.2495G>C (p.Ser832Thr) c.2372G>C (p.Ser791Thr) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46549872G= | CA2392733496 | DIP2A | c.2624G= (p.Ser875=) c.2612G= (p.Ser871=) c.2732G= (p.Ser911=) c.2729G= (p.Ser910=) c.2627G= (p.Ser876=) c.2600G= (p.Ser867=) c.2477G= (p.Ser826=) c.*82G= (n.*82G=) c.2495G= (p.Ser832=) c.2372G= (p.Ser791=) | |
21 | g.46549872G>T | CA410584026 | DIP2A | c.2624G>T (p.Ser875Ile) c.2612G>T (p.Ser871Ile) c.2732G>T (p.Ser911Ile) c.2729G>T (p.Ser910Ile) c.2627G>T (p.Ser876Ile) c.2600G>T (p.Ser867Ile) c.2477G>T (p.Ser826Ile) c.*82G>T (n.*82G>T) c.2495G>T (p.Ser832Ile) c.2372G>T (p.Ser791Ile) | |
21 | g.46549873C>A | CA410584027 | DIP2A | c.2625C>A (p.Ser875Arg) c.2613C>A (p.Ser871Arg) c.2733C>A (p.Ser911Arg) c.2730C>A (p.Ser910Arg) c.2628C>A (p.Ser876Arg) c.2601C>A (p.Ser867Arg) c.2478C>A (p.Ser826Arg) c.*83C>A (n.*83C>A) c.2496C>A (p.Ser832Arg) c.2373C>A (p.Ser791Arg) | |
21 | g.46549873C>G | CA410584028 | DIP2A | c.2625C>G (p.Ser875Arg) c.2613C>G (p.Ser871Arg) c.2733C>G (p.Ser911Arg) c.2730C>G (p.Ser910Arg) c.2628C>G (p.Ser876Arg) c.2601C>G (p.Ser867Arg) c.2478C>G (p.Ser826Arg) c.*83C>G (n.*83C>G) c.2496C>G (p.Ser832Arg) c.2373C>G (p.Ser791Arg) | |
21 | g.46549873C>T | CA512744329 | DIP2A | c.2625C>T (p.Ser875=) c.2613C>T (p.Ser871=) c.2733C>T (p.Ser911=) c.2730C>T (p.Ser910=) c.2628C>T (p.Ser876=) c.2601C>T (p.Ser867=) c.2478C>T (p.Ser826=) c.*83C>T (n.*83C>T) c.2496C>T (p.Ser832=) c.2373C>T (p.Ser791=) | |
21 | g.46549874C>A | CA410584029 | DIP2A | c.2626C>A (p.Arg876Ser) c.2614C>A (p.Arg872Ser) c.2734C>A (p.Arg912Ser) c.2731C>A (p.Arg911Ser) c.2629C>A (p.Arg877Ser) c.2602C>A (p.Arg868Ser) c.2479C>A (p.Arg827Ser) c.*84C>A (n.*84C>A) c.2497C>A (p.Arg833Ser) c.2374C>A (p.Arg792Ser) | |
21 | g.46549874C= | CA2392733497 | DIP2A | c.2626C= (p.Arg876=) c.2614C= (p.Arg872=) c.2734C= (p.Arg912=) c.2731C= (p.Arg911=) c.2629C= (p.Arg877=) c.2602C= (p.Arg868=) c.2479C= (p.Arg827=) c.*84C= (n.*84C=) c.2497C= (p.Arg833=) c.2374C= (p.Arg792=) | |
21 | g.46549874C>G | CA410584030 | DIP2A | c.2626C>G (p.Arg876Gly) c.2614C>G (p.Arg872Gly) c.2734C>G (p.Arg912Gly) c.2731C>G (p.Arg911Gly) c.2629C>G (p.Arg877Gly) c.2602C>G (p.Arg868Gly) c.2479C>G (p.Arg827Gly) c.*84C>G (n.*84C>G) c.2497C>G (p.Arg833Gly) c.2374C>G (p.Arg792Gly) | |
21 | g.46549874C>T | CA10082483 | DIP2A | c.2626C>T (p.Arg876Cys) c.2614C>T (p.Arg872Cys) c.2734C>T (p.Arg912Cys) c.2731C>T (p.Arg911Cys) c.2629C>T (p.Arg877Cys) c.2602C>T (p.Arg868Cys) c.2479C>T (p.Arg827Cys) c.*84C>T (n.*84C>T) c.2497C>T (p.Arg833Cys) c.2374C>T (p.Arg792Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549875G>A | CA10082484 | DIP2A | c.2627G>A (p.Arg876His) c.2615G>A (p.Arg872His) c.2735G>A (p.Arg912His) c.2732G>A (p.Arg911His) c.2630G>A (p.Arg877His) c.2603G>A (p.Arg868His) c.2480G>A (p.Arg827His) c.*85G>A (n.*85G>A) c.2498G>A (p.Arg833His) c.2375G>A (p.Arg792His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549875G>C | CA410584032 | DIP2A | c.2627G>C (p.Arg876Pro) c.2615G>C (p.Arg872Pro) c.2735G>C (p.Arg912Pro) c.2732G>C (p.Arg911Pro) c.2630G>C (p.Arg877Pro) c.2603G>C (p.Arg868Pro) c.2480G>C (p.Arg827Pro) c.*85G>C (n.*85G>C) c.2498G>C (p.Arg833Pro) c.2375G>C (p.Arg792Pro) | |
21 | g.46549875G= | CA2392733498 | DIP2A | c.2627G= (p.Arg876=) c.2615G= (p.Arg872=) c.2735G= (p.Arg912=) c.2732G= (p.Arg911=) c.2630G= (p.Arg877=) c.2603G= (p.Arg868=) c.2480G= (p.Arg827=) c.*85G= (n.*85G=) c.2498G= (p.Arg833=) c.2375G= (p.Arg792=) | |
21 | g.46549875G>T | CA410584031 | DIP2A | c.2627G>T (p.Arg876Leu) c.2615G>T (p.Arg872Leu) c.2735G>T (p.Arg912Leu) c.2732G>T (p.Arg911Leu) c.2630G>T (p.Arg877Leu) c.2603G>T (p.Arg868Leu) c.2480G>T (p.Arg827Leu) c.*85G>T (n.*85G>T) c.2498G>T (p.Arg833Leu) c.2375G>T (p.Arg792Leu) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549876T>A | CA512744360 | DIP2A | c.2628T>A (p.Arg876=) c.2616T>A (p.Arg872=) c.2736T>A (p.Arg912=) c.2733T>A (p.Arg911=) c.2631T>A (p.Arg877=) c.2604T>A (p.Arg868=) c.2481T>A (p.Arg827=) c.*86T>A (n.*86T>A) c.2499T>A (p.Arg833=) c.2376T>A (p.Arg792=) | |
21 | g.46549876T>C | CA512744358 | DIP2A | c.2628T>C (p.Arg876=) c.2616T>C (p.Arg872=) c.2736T>C (p.Arg912=) c.2733T>C (p.Arg911=) c.2631T>C (p.Arg877=) c.2604T>C (p.Arg868=) c.2481T>C (p.Arg827=) c.*86T>C (n.*86T>C) c.2499T>C (p.Arg833=) c.2376T>C (p.Arg792=) | |
21 | g.46549876T>G | CA512744355 | DIP2A | c.2628T>G (p.Arg876=) c.2616T>G (p.Arg872=) c.2736T>G (p.Arg912=) c.2733T>G (p.Arg911=) c.2631T>G (p.Arg877=) c.2604T>G (p.Arg868=) c.2481T>G (p.Arg827=) c.*86T>G (n.*86T>G) c.2499T>G (p.Arg833=) c.2376T>G (p.Arg792=) | |
21 | g.46549877G>A | CA410584033 | DIP2A | c.2629G>A (p.Val877Met) c.2617G>A (p.Val873Met) c.2737G>A (p.Val913Met) c.2734G>A (p.Val912Met) c.2632G>A (p.Val878Met) c.2605G>A (p.Val869Met) c.2482G>A (p.Val828Met) c.*87G>A (n.*87G>A) c.2500G>A (p.Val834Met) c.2377G>A (p.Val793Met) | |
21 | g.46549877G>C | CA410584035 | DIP2A | c.2629G>C (p.Val877Leu) c.2617G>C (p.Val873Leu) c.2737G>C (p.Val913Leu) c.2734G>C (p.Val912Leu) c.2632G>C (p.Val878Leu) c.2605G>C (p.Val869Leu) c.2482G>C (p.Val828Leu) c.*87G>C (n.*87G>C) c.2500G>C (p.Val834Leu) c.2377G>C (p.Val793Leu) | |
21 | g.46549877G>T | CA410584034 | DIP2A | c.2629G>T (p.Val877Leu) c.2617G>T (p.Val873Leu) c.2737G>T (p.Val913Leu) c.2734G>T (p.Val912Leu) c.2632G>T (p.Val878Leu) c.2605G>T (p.Val869Leu) c.2482G>T (p.Val828Leu) c.*87G>T (n.*87G>T) c.2500G>T (p.Val834Leu) c.2377G>T (p.Val793Leu) | gnomAD v4 |
21 | g.46549878T>A | CA410584036 | DIP2A | c.2630T>A (p.Val877Glu) c.2618T>A (p.Val873Glu) c.2738T>A (p.Val913Glu) c.2735T>A (p.Val912Glu) c.2633T>A (p.Val878Glu) c.2606T>A (p.Val869Glu) c.2483T>A (p.Val828Glu) c.*88T>A (n.*88T>A) c.2501T>A (p.Val834Glu) c.2378T>A (p.Val793Glu) | |
21 | g.46549878T>C | CA410584037 | DIP2A | c.2630T>C (p.Val877Ala) c.2618T>C (p.Val873Ala) c.2738T>C (p.Val913Ala) c.2735T>C (p.Val912Ala) c.2633T>C (p.Val878Ala) c.2606T>C (p.Val869Ala) c.2483T>C (p.Val828Ala) c.*88T>C (n.*88T>C) c.2501T>C (p.Val834Ala) c.2378T>C (p.Val793Ala) | |
21 | g.46549878T>G | CA410584038 | DIP2A | c.2630T>G (p.Val877Gly) c.2618T>G (p.Val873Gly) c.2738T>G (p.Val913Gly) c.2735T>G (p.Val912Gly) c.2633T>G (p.Val878Gly) c.2606T>G (p.Val869Gly) c.2483T>G (p.Val828Gly) c.*88T>G (n.*88T>G) c.2501T>G (p.Val834Gly) c.2378T>G (p.Val793Gly) | |
21 | g.46549879G>A | CA512744380 | DIP2A | c.2631G>A (p.Val877=) c.2619G>A (p.Val873=) c.2739G>A (p.Val913=) c.2736G>A (p.Val912=) c.2634G>A (p.Val878=) c.2607G>A (p.Val869=) c.2484G>A (p.Val828=) c.*89G>A (n.*89G>A) c.2502G>A (p.Val834=) c.2379G>A (p.Val793=) | |
21 | g.46549879G>C | CA512744378 | DIP2A | c.2631G>C (p.Val877=) c.2619G>C (p.Val873=) c.2739G>C (p.Val913=) c.2736G>C (p.Val912=) c.2634G>C (p.Val878=) c.2607G>C (p.Val869=) c.2484G>C (p.Val828=) c.*89G>C (n.*89G>C) c.2502G>C (p.Val834=) c.2379G>C (p.Val793=) | gnomAD v4 |
21 | g.46549879G>T | CA512744374 | DIP2A | c.2631G>T (p.Val877=) c.2619G>T (p.Val873=) c.2739G>T (p.Val913=) c.2736G>T (p.Val912=) c.2634G>T (p.Val878=) c.2607G>T (p.Val869=) c.2484G>T (p.Val828=) c.*89G>T (n.*89G>T) c.2502G>T (p.Val834=) c.2379G>T (p.Val793=) | |
21 | g.46549880C>A | CA410584039 | DIP2A | c.2632C>A (p.Leu878Met) c.2620C>A (p.Leu874Met) c.2740C>A (p.Leu914Met) c.2737C>A (p.Leu913Met) c.2635C>A (p.Leu879Met) c.2608C>A (p.Leu870Met) c.2485C>A (p.Leu829Met) c.*90C>A (n.*90C>A) c.2503C>A (p.Leu835Met) c.2380C>A (p.Leu794Met) | |
21 | g.46549880C= | CA2392733499 | DIP2A | c.2632C= (p.Leu878=) c.2620C= (p.Leu874=) c.2740C= (p.Leu914=) c.2737C= (p.Leu913=) c.2635C= (p.Leu879=) c.2608C= (p.Leu870=) c.2485C= (p.Leu829=) c.*90C= (n.*90C=) c.2503C= (p.Leu835=) c.2380C= (p.Leu794=) | |
21 | g.46549880C>G | CA410584040 | DIP2A | c.2632C>G (p.Leu878Val) c.2620C>G (p.Leu874Val) c.2740C>G (p.Leu914Val) c.2737C>G (p.Leu913Val) c.2635C>G (p.Leu879Val) c.2608C>G (p.Leu870Val) c.2485C>G (p.Leu829Val) c.*90C>G (n.*90C>G) c.2503C>G (p.Leu835Val) c.2380C>G (p.Leu794Val) | |
21 | g.46549880C>T | CA10082485 | DIP2A | c.2632C>T (p.Leu878=) c.2620C>T (p.Leu874=) c.2740C>T (p.Leu914=) c.2737C>T (p.Leu913=) c.2635C>T (p.Leu879=) c.2608C>T (p.Leu870=) c.2485C>T (p.Leu829=) c.*90C>T (n.*90C>T) c.2503C>T (p.Leu835=) c.2380C>T (p.Leu794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549881T>A | CA410584041 | DIP2A | c.2633T>A (p.Leu878Gln) c.2621T>A (p.Leu874Gln) c.2741T>A (p.Leu914Gln) c.2738T>A (p.Leu913Gln) c.2636T>A (p.Leu879Gln) c.2609T>A (p.Leu870Gln) c.2486T>A (p.Leu829Gln) c.*91T>A (n.*91T>A) c.2504T>A (p.Leu835Gln) c.2381T>A (p.Leu794Gln) | |
21 | g.46549881T>C | CA410584042 | DIP2A | c.2633T>C (p.Leu878Pro) c.2621T>C (p.Leu874Pro) c.2741T>C (p.Leu914Pro) c.2738T>C (p.Leu913Pro) c.2636T>C (p.Leu879Pro) c.2609T>C (p.Leu870Pro) c.2486T>C (p.Leu829Pro) c.*91T>C (n.*91T>C) c.2504T>C (p.Leu835Pro) c.2381T>C (p.Leu794Pro) | |
21 | g.46549881T>G | CA410584043 | DIP2A | c.2633T>G (p.Leu878Arg) c.2621T>G (p.Leu874Arg) c.2741T>G (p.Leu914Arg) c.2738T>G (p.Leu913Arg) c.2636T>G (p.Leu879Arg) c.2609T>G (p.Leu870Arg) c.2486T>G (p.Leu829Arg) c.*91T>G (n.*91T>G) c.2504T>G (p.Leu835Arg) c.2381T>G (p.Leu794Arg) | |
21 | g.46549882G>A | CA10082486 | DIP2A | c.2634G>A (p.Leu878=) c.2622G>A (p.Leu874=) c.2742G>A (p.Leu914=) c.2739G>A (p.Leu913=) c.2637G>A (p.Leu879=) c.2610G>A (p.Leu870=) c.2487G>A (p.Leu829=) c.*92G>A (n.*92G>A) c.2505G>A (p.Leu835=) c.2382G>A (p.Leu794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549882G>C | CA512744401 | DIP2A | c.2634G>C (p.Leu878=) c.2622G>C (p.Leu874=) c.2742G>C (p.Leu914=) c.2739G>C (p.Leu913=) c.2637G>C (p.Leu879=) c.2610G>C (p.Leu870=) c.2487G>C (p.Leu829=) c.*92G>C (n.*92G>C) c.2505G>C (p.Leu835=) c.2382G>C (p.Leu794=) | |
21 | g.46549882G= | CA2392733500 | DIP2A | c.2634G= (p.Leu878=) c.2622G= (p.Leu874=) c.2742G= (p.Leu914=) c.2739G= (p.Leu913=) c.2637G= (p.Leu879=) c.2610G= (p.Leu870=) c.2487G= (p.Leu829=) c.*92G= (n.*92G=) c.2505G= (p.Leu835=) c.2382G= (p.Leu794=) | |
21 | g.46549882G>T | CA512744398 | DIP2A | c.2634G>T (p.Leu878=) c.2622G>T (p.Leu874=) c.2742G>T (p.Leu914=) c.2739G>T (p.Leu913=) c.2637G>T (p.Leu879=) c.2610G>T (p.Leu870=) c.2487G>T (p.Leu829=) c.*92G>T (n.*92G>T) c.2505G>T (p.Leu835=) c.2382G>T (p.Leu794=) | gnomAD v4 |
21 | g.46549883C>A | CA410584046 | DIP2A | c.2635C>A (p.Gln879Lys) c.2623C>A (p.Gln875Lys) c.2743C>A (p.Gln915Lys) c.2740C>A (p.Gln914Lys) c.2638C>A (p.Gln880Lys) c.2611C>A (p.Gln871Lys) c.2488C>A (p.Gln830Lys) c.*93C>A (n.*93C>A) c.2506C>A (p.Gln836Lys) c.2383C>A (p.Gln795Lys) | gnomAD v4 |
21 | g.46549883C>G | CA410584045 | DIP2A | c.2635C>G (p.Gln879Glu) c.2623C>G (p.Gln875Glu) c.2743C>G (p.Gln915Glu) c.2740C>G (p.Gln914Glu) c.2638C>G (p.Gln880Glu) c.2611C>G (p.Gln871Glu) c.2488C>G (p.Gln830Glu) c.*93C>G (n.*93C>G) c.2506C>G (p.Gln836Glu) c.2383C>G (p.Gln795Glu) | |
21 | g.46549883C>T | CA410584044 | DIP2A | c.2635C>T (p.Gln879Ter) c.2623C>T (p.Gln875Ter) c.2743C>T (p.Gln915Ter) c.2740C>T (p.Gln914Ter) c.2638C>T (p.Gln880Ter) c.2611C>T (p.Gln871Ter) c.2488C>T (p.Gln830Ter) c.*93C>T (n.*93C>T) c.2506C>T (p.Gln836Ter) c.2383C>T (p.Gln795Ter) | gnomAD v4 |
21 | g.46549884A= | CA2392733501 | DIP2A | c.2636A= (p.Gln879=) c.2624A= (p.Gln875=) c.2744A= (p.Gln915=) c.2741A= (p.Gln914=) c.2639A= (p.Gln880=) c.2612A= (p.Gln871=) c.2489A= (p.Gln830=) c.*94A= (n.*94A=) c.2507A= (p.Gln836=) c.2384A= (p.Gln795=) | |
21 | g.46549884A>C | CA410584047 | DIP2A | c.2636A>C (p.Gln879Pro) c.2624A>C (p.Gln875Pro) c.2744A>C (p.Gln915Pro) c.2741A>C (p.Gln914Pro) c.2639A>C (p.Gln880Pro) c.2612A>C (p.Gln871Pro) c.2489A>C (p.Gln830Pro) c.*94A>C (n.*94A>C) c.2507A>C (p.Gln836Pro) c.2384A>C (p.Gln795Pro) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46549884A>G | CA410584048 | DIP2A | c.2636A>G (p.Gln879Arg) c.2624A>G (p.Gln875Arg) c.2744A>G (p.Gln915Arg) c.2741A>G (p.Gln914Arg) c.2639A>G (p.Gln880Arg) c.2612A>G (p.Gln871Arg) c.2489A>G (p.Gln830Arg) c.*94A>G (n.*94A>G) c.2507A>G (p.Gln836Arg) c.2384A>G (p.Gln795Arg) | |
21 | g.46549884A>T | CA410584049 | DIP2A | c.2636A>T (p.Gln879Leu) c.2624A>T (p.Gln875Leu) c.2744A>T (p.Gln915Leu) c.2741A>T (p.Gln914Leu) c.2639A>T (p.Gln880Leu) c.2612A>T (p.Gln871Leu) c.2489A>T (p.Gln830Leu) c.*94A>T (n.*94A>T) c.2507A>T (p.Gln836Leu) c.2384A>T (p.Gln795Leu) | |
21 | g.46549885G>A | CA512744421 | DIP2A | c.2637G>A (p.Gln879=) c.2625G>A (p.Gln875=) c.2745G>A (p.Gln915=) c.2742G>A (p.Gln914=) c.2640G>A (p.Gln880=) c.2613G>A (p.Gln871=) c.2490G>A (p.Gln830=) c.*95G>A (n.*95G>A) c.2508G>A (p.Gln836=) c.2385G>A (p.Gln795=) | |
21 | g.46549885G>C | CA410584050 | DIP2A | c.2637G>C (p.Gln879His) c.2625G>C (p.Gln875His) c.2745G>C (p.Gln915His) c.2742G>C (p.Gln914His) c.2640G>C (p.Gln880His) c.2613G>C (p.Gln871His) c.2490G>C (p.Gln830His) c.*95G>C (n.*95G>C) c.2508G>C (p.Gln836His) c.2385G>C (p.Gln795His) | |
21 | g.46549885G>T | CA410584051 | DIP2A | c.2637G>T (p.Gln879His) c.2625G>T (p.Gln875His) c.2745G>T (p.Gln915His) c.2742G>T (p.Gln914His) c.2640G>T (p.Gln880His) c.2613G>T (p.Gln871His) c.2490G>T (p.Gln830His) c.*95G>T (n.*95G>T) c.2508G>T (p.Gln836His) c.2385G>T (p.Gln795His) | gnomAD v4 |
21 | g.46549886G>A | CA410584052 | DIP2A | c.2637+1G>A (n.2637+1G>A) c.2625+1G>A (n.2625+1G>A) c.2638G>A (p.Val880Met) c.2745+1G>A (n.2745+1G>A) c.2742+1G>A (n.2742+1G>A) c.2640+1G>A (n.2640+1G>A) c.2613+1G>A (n.2613+1G>A) c.2490+1G>A (n.2490+1G>A) c.*96G>A (n.*96G>A) c.2508+1G>A (n.2508+1G>A) c.2385+1G>A (n.2385+1G>A) c.*95+1G>A (n.*95+1G>A) | |
21 | g.46549886G>C | CA410584053 | DIP2A | c.2637+1G>C (n.2637+1G>C) c.2625+1G>C (n.2625+1G>C) c.2638G>C (p.Val880Leu) c.2745+1G>C (n.2745+1G>C) c.2742+1G>C (n.2742+1G>C) c.2640+1G>C (n.2640+1G>C) c.2613+1G>C (n.2613+1G>C) c.2490+1G>C (n.2490+1G>C) c.*96G>C (n.*96G>C) c.2508+1G>C (n.2508+1G>C) c.2385+1G>C (n.2385+1G>C) c.*95+1G>C (n.*95+1G>C) | |
21 | g.46549886G>T | CA410584054 | DIP2A | c.2637+1G>T (n.2637+1G>T) c.2625+1G>T (n.2625+1G>T) c.2638G>T (p.Val880Leu) c.2745+1G>T (n.2745+1G>T) c.2742+1G>T (n.2742+1G>T) c.2640+1G>T (n.2640+1G>T) c.2613+1G>T (n.2613+1G>T) c.2490+1G>T (n.2490+1G>T) c.*96G>T (n.*96G>T) c.2508+1G>T (n.2508+1G>T) c.2385+1G>T (n.2385+1G>T) c.*95+1G>T (n.*95+1G>T) | |
21 | g.46549887T>A | CA410584055 | DIP2A | c.2637+2T>A (n.2637+2T>A) c.2625+2T>A (n.2625+2T>A) c.2639T>A (p.Val880Glu) c.2745+2T>A (n.2745+2T>A) c.2742+2T>A (n.2742+2T>A) c.2640+2T>A (n.2640+2T>A) c.2613+2T>A (n.2613+2T>A) c.2490+2T>A (n.2490+2T>A) c.*97T>A (n.*97T>A) c.2508+2T>A (n.2508+2T>A) c.2385+2T>A (n.2385+2T>A) c.*95+2T>A (n.*95+2T>A) | |
21 | g.46549887T>C | CA410584056 | DIP2A | c.2637+2T>C (n.2637+2T>C) c.2625+2T>C (n.2625+2T>C) c.2639T>C (p.Val880Ala) c.2745+2T>C (n.2745+2T>C) c.2742+2T>C (n.2742+2T>C) c.2640+2T>C (n.2640+2T>C) c.2613+2T>C (n.2613+2T>C) c.2490+2T>C (n.2490+2T>C) c.*97T>C (n.*97T>C) c.2508+2T>C (n.2508+2T>C) c.2385+2T>C (n.2385+2T>C) c.*95+2T>C (n.*95+2T>C) | |
21 | g.46549887T>G | CA410584057 | DIP2A | c.2637+2T>G (n.2637+2T>G) c.2625+2T>G (n.2625+2T>G) c.2639T>G (p.Val880Gly) c.2745+2T>G (n.2745+2T>G) c.2742+2T>G (n.2742+2T>G) c.2640+2T>G (n.2640+2T>G) c.2613+2T>G (n.2613+2T>G) c.2490+2T>G (n.2490+2T>G) c.*97T>G (n.*97T>G) c.2508+2T>G (n.2508+2T>G) c.2385+2T>G (n.2385+2T>G) c.*95+2T>G (n.*95+2T>G) | |
21 | g.46549888G>A | CA2842833493 | DIP2A | c.2637+3G>A (n.2637+3G>A) c.2625+3G>A (n.2625+3G>A) c.2640G>A (p.Val880=) c.2745+3G>A (n.2745+3G>A) c.2742+3G>A (n.2742+3G>A) c.2640+3G>A (n.2640+3G>A) c.2613+3G>A (n.2613+3G>A) c.2490+3G>A (n.2490+3G>A) c.*98G>A (n.*98G>A) c.2508+3G>A (n.2508+3G>A) c.2385+3G>A (n.2385+3G>A) c.*95+3G>A (n.*95+3G>A) | |
21 | g.46549888G>C | CA658794801 | DIP2A | c.2637+3G>C (n.2637+3G>C) c.2625+3G>C (n.2625+3G>C) c.2640G>C (p.Val880=) c.2745+3G>C (n.2745+3G>C) c.2742+3G>C (n.2742+3G>C) c.2640+3G>C (n.2640+3G>C) c.2613+3G>C (n.2613+3G>C) c.2490+3G>C (n.2490+3G>C) c.*98G>C (n.*98G>C) c.2508+3G>C (n.2508+3G>C) c.2385+3G>C (n.2385+3G>C) c.*95+3G>C (n.*95+3G>C) | |
21 | g.46549888G>T | CA2842833494 | DIP2A | c.2637+3G>T (n.2637+3G>T) c.2625+3G>T (n.2625+3G>T) c.2640G>T (p.Val880=) c.2745+3G>T (n.2745+3G>T) c.2742+3G>T (n.2742+3G>T) c.2640+3G>T (n.2640+3G>T) c.2613+3G>T (n.2613+3G>T) c.2490+3G>T (n.2490+3G>T) c.*98G>T (n.*98G>T) c.2508+3G>T (n.2508+3G>T) c.2385+3G>T (n.2385+3G>T) c.*95+3G>T (n.*95+3G>T) | |
21 | g.46549889G>A | CA410584059 | DIP2A | c.2637+4G>A (n.2637+4G>A) c.2625+4G>A (n.2625+4G>A) c.2641G>A (p.Gly881Ser) c.2745+4G>A (n.2745+4G>A) c.2742+4G>A (n.2742+4G>A) c.2640+4G>A (n.2640+4G>A) c.2613+4G>A (n.2613+4G>A) c.2490+4G>A (n.2490+4G>A) c.*99G>A (n.*99G>A) c.2508+4G>A (n.2508+4G>A) c.2385+4G>A (n.2385+4G>A) c.*95+4G>A (n.*95+4G>A) | gnomAD v4 |
21 | g.46549889G>C | CA410584060 | DIP2A | c.2637+4G>C (n.2637+4G>C) c.2625+4G>C (n.2625+4G>C) c.2641G>C (p.Gly881Arg) c.2745+4G>C (n.2745+4G>C) c.2742+4G>C (n.2742+4G>C) c.2640+4G>C (n.2640+4G>C) c.2613+4G>C (n.2613+4G>C) c.2490+4G>C (n.2490+4G>C) c.*99G>C (n.*99G>C) c.2508+4G>C (n.2508+4G>C) c.2385+4G>C (n.2385+4G>C) c.*95+4G>C (n.*95+4G>C) | |
21 | g.46549889G>T | CA410584058 | DIP2A | c.2637+4G>T (n.2637+4G>T) c.2625+4G>T (n.2625+4G>T) c.2641G>T (p.Gly881Cys) c.2745+4G>T (n.2745+4G>T) c.2742+4G>T (n.2742+4G>T) c.2640+4G>T (n.2640+4G>T) c.2613+4G>T (n.2613+4G>T) c.2490+4G>T (n.2490+4G>T) c.*99G>T (n.*99G>T) c.2508+4G>T (n.2508+4G>T) c.2385+4G>T (n.2385+4G>T) c.*95+4G>T (n.*95+4G>T) | |
21 | g.46549890G>A | CA410584061 | DIP2A | c.2637+5G>A (n.2637+5G>A) c.2625+5G>A (n.2625+5G>A) c.2642G>A (p.Gly881Asp) c.2745+5G>A (n.2745+5G>A) c.2742+5G>A (n.2742+5G>A) c.2640+5G>A (n.2640+5G>A) c.2613+5G>A (n.2613+5G>A) c.2490+5G>A (n.2490+5G>A) c.*100G>A (n.*100G>A) c.2508+5G>A (n.2508+5G>A) c.2385+5G>A (n.2385+5G>A) c.*95+5G>A (n.*95+5G>A) | |
21 | g.46549890G>C | CA410584062 | DIP2A | c.2637+5G>C (n.2637+5G>C) c.2625+5G>C (n.2625+5G>C) c.2642G>C (p.Gly881Ala) c.2745+5G>C (n.2745+5G>C) c.2742+5G>C (n.2742+5G>C) c.2640+5G>C (n.2640+5G>C) c.2613+5G>C (n.2613+5G>C) c.2490+5G>C (n.2490+5G>C) c.*100G>C (n.*100G>C) c.2508+5G>C (n.2508+5G>C) c.2385+5G>C (n.2385+5G>C) c.*95+5G>C (n.*95+5G>C) | |
21 | g.46549890G>T | CA410584063 | DIP2A | c.2637+5G>T (n.2637+5G>T) c.2625+5G>T (n.2625+5G>T) c.2642G>T (p.Gly881Val) c.2745+5G>T (n.2745+5G>T) c.2742+5G>T (n.2742+5G>T) c.2640+5G>T (n.2640+5G>T) c.2613+5G>T (n.2613+5G>T) c.2490+5G>T (n.2490+5G>T) c.*100G>T (n.*100G>T) c.2508+5G>T (n.2508+5G>T) c.2385+5G>T (n.2385+5G>T) c.*95+5G>T (n.*95+5G>T) | gnomAD v4 |
21 | g.46549891C>A | CA2655037571 | DIP2A | c.2637+6C>A (n.2637+6C>A) c.2625+6C>A (n.2625+6C>A) c.2643C>A (p.Gly881=) c.2745+6C>A (n.2745+6C>A) c.2742+6C>A (n.2742+6C>A) c.2640+6C>A (n.2640+6C>A) c.2613+6C>A (n.2613+6C>A) c.2490+6C>A (n.2490+6C>A) c.*101C>A (n.*101C>A) c.2508+6C>A (n.2508+6C>A) c.2385+6C>A (n.2385+6C>A) c.*95+6C>A (n.*95+6C>A) | gnomAD v4 |
21 | g.46549891C= | CA2392733502 | DIP2A | c.2637+6C= (n.2637+6C=) c.2625+6C= (n.2625+6C=) c.2643C= (p.Gly881=) c.2745+6C= (n.2745+6C=) c.2742+6C= (n.2742+6C=) c.2640+6C= (n.2640+6C=) c.2613+6C= (n.2613+6C=) c.2490+6C= (n.2490+6C=) c.*101C= (n.*101C=) c.2508+6C= (n.2508+6C=) c.2385+6C= (n.2385+6C=) c.*95+6C= (n.*95+6C=) | |
21 | g.46549891C>T | CA10082487 | DIP2A | c.2637+6C>T (n.2637+6C>T) c.2625+6C>T (n.2625+6C>T) c.2643C>T (p.Gly881=) c.2745+6C>T (n.2745+6C>T) c.2742+6C>T (n.2742+6C>T) c.2640+6C>T (n.2640+6C>T) c.2613+6C>T (n.2613+6C>T) c.2490+6C>T (n.2490+6C>T) c.*101C>T (n.*101C>T) c.2508+6C>T (n.2508+6C>T) c.2385+6C>T (n.2385+6C>T) c.*95+6C>T (n.*95+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
21 | g.46549892G>A | CA410584064 | DIP2A | c.2637+7G>A (n.2637+7G>A) c.2625+7G>A (n.2625+7G>A) c.2644G>A (p.Ala882Thr) c.2745+7G>A (n.2745+7G>A) c.2742+7G>A (n.2742+7G>A) c.2640+7G>A (n.2640+7G>A) c.2613+7G>A (n.2613+7G>A) c.2490+7G>A (n.2490+7G>A) c.*102G>A (n.*102G>A) c.2508+7G>A (n.2508+7G>A) c.2385+7G>A (n.2385+7G>A) c.*95+7G>A (n.*95+7G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549892G>C | CA410584065 | DIP2A | c.2637+7G>C (n.2637+7G>C) c.2625+7G>C (n.2625+7G>C) c.2644G>C (p.Ala882Pro) c.2745+7G>C (n.2745+7G>C) c.2742+7G>C (n.2742+7G>C) c.2640+7G>C (n.2640+7G>C) c.2613+7G>C (n.2613+7G>C) c.2490+7G>C (n.2490+7G>C) c.*102G>C (n.*102G>C) c.2508+7G>C (n.2508+7G>C) c.2385+7G>C (n.2385+7G>C) c.*95+7G>C (n.*95+7G>C) | |
21 | g.46549892G= | CA2392733504 | DIP2A | c.2637+7G= (n.2637+7G=) c.2625+7G= (n.2625+7G=) c.2644G= (p.Ala882=) c.2745+7G= (n.2745+7G=) c.2742+7G= (n.2742+7G=) c.2640+7G= (n.2640+7G=) c.2613+7G= (n.2613+7G=) c.2490+7G= (n.2490+7G=) c.*102G= (n.*102G=) c.2508+7G= (n.2508+7G=) c.2385+7G= (n.2385+7G=) c.*95+7G= (n.*95+7G=) | |
21 | g.46549892G>T | CA410584066 | DIP2A | c.2637+7G>T (n.2637+7G>T) c.2625+7G>T (n.2625+7G>T) c.2644G>T (p.Ala882Ser) c.2745+7G>T (n.2745+7G>T) c.2742+7G>T (n.2742+7G>T) c.2640+7G>T (n.2640+7G>T) c.2613+7G>T (n.2613+7G>T) c.2490+7G>T (n.2490+7G>T) c.*102G>T (n.*102G>T) c.2508+7G>T (n.2508+7G>T) c.2385+7G>T (n.2385+7G>T) c.*95+7G>T (n.*95+7G>T) | |
21 | g.46549892_46549893delinsGC | CA2392733503 | DIP2A | c.2637+7_2637+8delinsGC (n.2637+7_2637+8delinsGC) c.2625+7_2625+8delinsGC (n.2625+7_2625+8delinsGC) c.2644_2645delinsGC (p.Ala882=) c.2745+7_2745+8delinsGC (n.2745+7_2745+8delinsGC) c.2742+7_2742+8delinsGC (n.2742+7_2742+8delinsGC) c.2640+7_2640+8delinsGC (n.2640+7_2640+8delinsGC) c.2613+7_2613+8delinsGC (n.2613+7_2613+8delinsGC) c.2490+7_2490+8delinsGC (n.2490+7_2490+8delinsGC) c.*102_*103delinsGC (n.*102_*103delinsGC) c.2508+7_2508+8delinsGC (n.2508+7_2508+8delinsGC) c.2385+7_2385+8delinsGC (n.2385+7_2385+8delinsGC) c.*95+7_*95+8delinsGC (n.*95+7_*95+8delinsGC) | |
21 | g.46549893C>A | CA410584067 | DIP2A | c.2637+8C>A (n.2637+8C>A) c.2625+8C>A (n.2625+8C>A) c.2645C>A (p.Ala882Asp) c.2745+8C>A (n.2745+8C>A) c.2742+8C>A (n.2742+8C>A) c.2640+8C>A (n.2640+8C>A) c.2613+8C>A (n.2613+8C>A) c.2490+8C>A (n.2490+8C>A) c.*103C>A (n.*103C>A) c.2508+8C>A (n.2508+8C>A) c.2385+8C>A (n.2385+8C>A) c.*95+8C>A (n.*95+8C>A) | |
21 | g.46549893C>G | CA410584068 | DIP2A | c.2637+8C>G (n.2637+8C>G) c.2625+8C>G (n.2625+8C>G) c.2645C>G (p.Ala882Gly) c.2745+8C>G (n.2745+8C>G) c.2742+8C>G (n.2742+8C>G) c.2640+8C>G (n.2640+8C>G) c.2613+8C>G (n.2613+8C>G) c.2490+8C>G (n.2490+8C>G) c.*103C>G (n.*103C>G) c.2508+8C>G (n.2508+8C>G) c.2385+8C>G (n.2385+8C>G) c.*95+8C>G (n.*95+8C>G) | |
21 | g.46549893C>T | CA410584069 | DIP2A | c.2637+8C>T (n.2637+8C>T) c.2625+8C>T (n.2625+8C>T) c.2645C>T (p.Ala882Val) c.2745+8C>T (n.2745+8C>T) c.2742+8C>T (n.2742+8C>T) c.2640+8C>T (n.2640+8C>T) c.2613+8C>T (n.2613+8C>T) c.2490+8C>T (n.2490+8C>T) c.*103C>T (n.*103C>T) c.2508+8C>T (n.2508+8C>T) c.2385+8C>T (n.2385+8C>T) c.*95+8C>T (n.*95+8C>T) | COSMIC COSMIC COSMIC COSMIC |
21 | g.46549896del | CA10082488 | DIP2A | c.2637+11del (n.2637+11del) c.2625+11del (n.2625+11del) c.2648del (p.Pro883ArgfsTer?) c.2745+11del (n.2745+11del) c.2742+11del (n.2742+11del) c.2640+11del (n.2640+11del) c.2613+11del (n.2613+11del) c.2490+11del (n.2490+11del) c.*106del (n.*106del) c.2508+11del (n.2508+11del) c.2385+11del (n.2385+11del) c.*95+11del (n.*95+11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549894C= | CA2392733505 | DIP2A | c.2637+9C= (n.2637+9C=) c.2625+9C= (n.2625+9C=) c.2646C= (p.Ala882=) c.2745+9C= (n.2745+9C=) c.2742+9C= (n.2742+9C=) c.2640+9C= (n.2640+9C=) c.2613+9C= (n.2613+9C=) c.2490+9C= (n.2490+9C=) c.*104C= (n.*104C=) c.2508+9C= (n.2508+9C=) c.2385+9C= (n.2385+9C=) c.*95+9C= (n.*95+9C=) | |
21 | g.46549894C>T | CA10082489 | DIP2A | c.2637+9C>T (n.2637+9C>T) c.2625+9C>T (n.2625+9C>T) c.2646C>T (p.Ala882=) c.2745+9C>T (n.2745+9C>T) c.2742+9C>T (n.2742+9C>T) c.2640+9C>T (n.2640+9C>T) c.2613+9C>T (n.2613+9C>T) c.2490+9C>T (n.2490+9C>T) c.*104C>T (n.*104C>T) c.2508+9C>T (n.2508+9C>T) c.2385+9C>T (n.2385+9C>T) c.*95+9C>T (n.*95+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549895C>A | CA410584071 | DIP2A | c.2637+10C>A (n.2637+10C>A) c.2625+10C>A (n.2625+10C>A) c.2647C>A (p.Pro883Thr) c.2745+10C>A (n.2745+10C>A) c.2742+10C>A (n.2742+10C>A) c.2640+10C>A (n.2640+10C>A) c.2613+10C>A (n.2613+10C>A) c.2490+10C>A (n.2490+10C>A) c.*105C>A (n.*105C>A) c.2508+10C>A (n.2508+10C>A) c.2385+10C>A (n.2385+10C>A) c.*95+10C>A (n.*95+10C>A) | gnomAD v4 |
21 | g.46549895C= | CA2392733506 | DIP2A | c.2637+10C= (n.2637+10C=) c.2625+10C= (n.2625+10C=) c.2647C= (p.Pro883=) c.2745+10C= (n.2745+10C=) c.2742+10C= (n.2742+10C=) c.2640+10C= (n.2640+10C=) c.2613+10C= (n.2613+10C=) c.2490+10C= (n.2490+10C=) c.*105C= (n.*105C=) c.2508+10C= (n.2508+10C=) c.2385+10C= (n.2385+10C=) c.*95+10C= (n.*95+10C=) | |
21 | g.46549895C>G | CA410584070 | DIP2A | c.2637+10C>G (n.2637+10C>G) c.2625+10C>G (n.2625+10C>G) c.2647C>G (p.Pro883Ala) c.2745+10C>G (n.2745+10C>G) c.2742+10C>G (n.2742+10C>G) c.2640+10C>G (n.2640+10C>G) c.2613+10C>G (n.2613+10C>G) c.2490+10C>G (n.2490+10C>G) c.*105C>G (n.*105C>G) c.2508+10C>G (n.2508+10C>G) c.2385+10C>G (n.2385+10C>G) c.*95+10C>G (n.*95+10C>G) | |
21 | g.46549895C>T | CA322006373 | DIP2A | c.2637+10C>T (n.2637+10C>T) c.2625+10C>T (n.2625+10C>T) c.2647C>T (p.Pro883Ser) c.2745+10C>T (n.2745+10C>T) c.2742+10C>T (n.2742+10C>T) c.2640+10C>T (n.2640+10C>T) c.2613+10C>T (n.2613+10C>T) c.2490+10C>T (n.2490+10C>T) c.*105C>T (n.*105C>T) c.2508+10C>T (n.2508+10C>T) c.2385+10C>T (n.2385+10C>T) c.*95+10C>T (n.*95+10C>T) | dbSNP gnomAD v4 |
21 | g.46549896C>A | CA410584072 | DIP2A | c.2637+11C>A (n.2637+11C>A) c.2625+11C>A (n.2625+11C>A) c.2648C>A (p.Pro883Gln) c.2745+11C>A (n.2745+11C>A) c.2742+11C>A (n.2742+11C>A) c.2640+11C>A (n.2640+11C>A) c.2613+11C>A (n.2613+11C>A) c.2490+11C>A (n.2490+11C>A) c.*106C>A (n.*106C>A) c.2508+11C>A (n.2508+11C>A) c.2385+11C>A (n.2385+11C>A) c.*95+11C>A (n.*95+11C>A) | gnomAD v4 |
21 | g.46549896C= | CA2392733507 | DIP2A | c.2637+11C= (n.2637+11C=) c.2625+11C= (n.2625+11C=) c.2648C= (p.Pro883=) c.2745+11C= (n.2745+11C=) c.2742+11C= (n.2742+11C=) c.2640+11C= (n.2640+11C=) c.2613+11C= (n.2613+11C=) c.2490+11C= (n.2490+11C=) c.*106C= (n.*106C=) c.2508+11C= (n.2508+11C=) c.2385+11C= (n.2385+11C=) c.*95+11C= (n.*95+11C=) | |
21 | g.46549896C>G | CA410584073 | DIP2A | c.2637+11C>G (n.2637+11C>G) c.2625+11C>G (n.2625+11C>G) c.2648C>G (p.Pro883Arg) c.2745+11C>G (n.2745+11C>G) c.2742+11C>G (n.2742+11C>G) c.2640+11C>G (n.2640+11C>G) c.2613+11C>G (n.2613+11C>G) c.2490+11C>G (n.2490+11C>G) c.*106C>G (n.*106C>G) c.2508+11C>G (n.2508+11C>G) c.2385+11C>G (n.2385+11C>G) c.*95+11C>G (n.*95+11C>G) | gnomAD v4 |
21 | g.46549896C>T | CA10082490 | DIP2A | c.2637+11C>T (n.2637+11C>T) c.2625+11C>T (n.2625+11C>T) c.2648C>T (p.Pro883Leu) c.2745+11C>T (n.2745+11C>T) c.2742+11C>T (n.2742+11C>T) c.2640+11C>T (n.2640+11C>T) c.2613+11C>T (n.2613+11C>T) c.2490+11C>T (n.2490+11C>T) c.*106C>T (n.*106C>T) c.2508+11C>T (n.2508+11C>T) c.2385+11C>T (n.2385+11C>T) c.*95+11C>T (n.*95+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46549897G>A | CA10082491 | DIP2A | c.2637+12G>A (n.2637+12G>A) c.2625+12G>A (n.2625+12G>A) c.2649G>A (p.Pro883=) c.2745+12G>A (n.2745+12G>A) c.2742+12G>A (n.2742+12G>A) c.2640+12G>A (n.2640+12G>A) c.2613+12G>A (n.2613+12G>A) c.2490+12G>A (n.2490+12G>A) c.*107G>A (n.*107G>A) c.2508+12G>A (n.2508+12G>A) c.2385+12G>A (n.2385+12G>A) c.*95+12G>A (n.*95+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549897G= | CA2392733508 | DIP2A | c.2637+12G= (n.2637+12G=) c.2625+12G= (n.2625+12G=) c.2649G= (p.Pro883=) c.2745+12G= (n.2745+12G=) c.2742+12G= (n.2742+12G=) c.2640+12G= (n.2640+12G=) c.2613+12G= (n.2613+12G=) c.2490+12G= (n.2490+12G=) c.*107G= (n.*107G=) c.2508+12G= (n.2508+12G=) c.2385+12G= (n.2385+12G=) c.*95+12G= (n.*95+12G=) | |
21 | g.46549897G>T | CA2655037576 | DIP2A | c.2637+12G>T (n.2637+12G>T) c.2625+12G>T (n.2625+12G>T) c.2649G>T (p.Pro883=) c.2745+12G>T (n.2745+12G>T) c.2742+12G>T (n.2742+12G>T) c.2640+12G>T (n.2640+12G>T) c.2613+12G>T (n.2613+12G>T) c.2490+12G>T (n.2490+12G>T) c.*107G>T (n.*107G>T) c.2508+12G>T (n.2508+12G>T) c.2385+12G>T (n.2385+12G>T) c.*95+12G>T (n.*95+12G>T) | gnomAD v4 |
21 | g.46549898G>A | CA410584074 | DIP2A | c.2637+13G>A (n.2637+13G>A) c.2625+13G>A (n.2625+13G>A) c.2650G>A (p.Ala884Thr) c.2745+13G>A (n.2745+13G>A) c.2742+13G>A (n.2742+13G>A) c.2640+13G>A (n.2640+13G>A) c.2613+13G>A (n.2613+13G>A) c.2490+13G>A (n.2490+13G>A) c.*108G>A (n.*108G>A) c.2508+13G>A (n.2508+13G>A) c.2385+13G>A (n.2385+13G>A) c.*95+13G>A (n.*95+13G>A) | gnomAD v4 |
21 | g.46549898G>C | CA410584075 | DIP2A | c.2637+13G>C (n.2637+13G>C) c.2625+13G>C (n.2625+13G>C) c.2650G>C (p.Ala884Pro) c.2745+13G>C (n.2745+13G>C) c.2742+13G>C (n.2742+13G>C) c.2640+13G>C (n.2640+13G>C) c.2613+13G>C (n.2613+13G>C) c.2490+13G>C (n.2490+13G>C) c.*108G>C (n.*108G>C) c.2508+13G>C (n.2508+13G>C) c.2385+13G>C (n.2385+13G>C) c.*95+13G>C (n.*95+13G>C) | dbSNP |
21 | g.46549898G= | CA2392733509 | DIP2A | c.2637+13G= (n.2637+13G=) c.2625+13G= (n.2625+13G=) c.2650G= (p.Ala884=) c.2745+13G= (n.2745+13G=) c.2742+13G= (n.2742+13G=) c.2640+13G= (n.2640+13G=) c.2613+13G= (n.2613+13G=) c.2490+13G= (n.2490+13G=) c.*108G= (n.*108G=) c.2508+13G= (n.2508+13G=) c.2385+13G= (n.2385+13G=) c.*95+13G= (n.*95+13G=) | |
21 | g.46549898G>T | CA410584076 | DIP2A | c.2637+13G>T (n.2637+13G>T) c.2625+13G>T (n.2625+13G>T) c.2650G>T (p.Ala884Ser) c.2745+13G>T (n.2745+13G>T) c.2742+13G>T (n.2742+13G>T) c.2640+13G>T (n.2640+13G>T) c.2613+13G>T (n.2613+13G>T) c.2490+13G>T (n.2490+13G>T) c.*108G>T (n.*108G>T) c.2508+13G>T (n.2508+13G>T) c.2385+13G>T (n.2385+13G>T) c.*95+13G>T (n.*95+13G>T) | gnomAD v4 |
21 | g.46549899C>A | CA410584077 | DIP2A | c.2637+14C>A (n.2637+14C>A) c.2625+14C>A (n.2625+14C>A) c.2651C>A (p.Ala884Glu) c.2745+14C>A (n.2745+14C>A) c.2742+14C>A (n.2742+14C>A) c.2640+14C>A (n.2640+14C>A) c.2613+14C>A (n.2613+14C>A) c.2490+14C>A (n.2490+14C>A) c.*109C>A (n.*109C>A) c.2508+14C>A (n.2508+14C>A) c.2385+14C>A (n.2385+14C>A) c.*95+14C>A (n.*95+14C>A) | |
21 | g.46549899C>G | CA410584078 | DIP2A | c.2637+14C>G (n.2637+14C>G) c.2625+14C>G (n.2625+14C>G) c.2651C>G (p.Ala884Gly) c.2745+14C>G (n.2745+14C>G) c.2742+14C>G (n.2742+14C>G) c.2640+14C>G (n.2640+14C>G) c.2613+14C>G (n.2613+14C>G) c.2490+14C>G (n.2490+14C>G) c.*109C>G (n.*109C>G) c.2508+14C>G (n.2508+14C>G) c.2385+14C>G (n.2385+14C>G) c.*95+14C>G (n.*95+14C>G) | |
21 | g.46549899C>T | CA410584079 | DIP2A | c.2637+14C>T (n.2637+14C>T) c.2625+14C>T (n.2625+14C>T) c.2651C>T (p.Ala884Val) c.2745+14C>T (n.2745+14C>T) c.2742+14C>T (n.2742+14C>T) c.2640+14C>T (n.2640+14C>T) c.2613+14C>T (n.2613+14C>T) c.2490+14C>T (n.2490+14C>T) c.*109C>T (n.*109C>T) c.2508+14C>T (n.2508+14C>T) c.2385+14C>T (n.2385+14C>T) c.*95+14C>T (n.*95+14C>T) | gnomAD v4 |
21 | g.46549899dup | CA2842833495 | DIP2A | c.2637+14dup (n.2637+14dup) c.2625+14dup (n.2625+14dup) c.2651dup (p.Arg885ThrfsTer?) c.2745+14dup (n.2745+14dup) c.2742+14dup (n.2742+14dup) c.2640+14dup (n.2640+14dup) c.2613+14dup (n.2613+14dup) c.2490+14dup (n.2490+14dup) c.*109dup (n.*109dup) c.2508+14dup (n.2508+14dup) c.2385+14dup (n.2385+14dup) c.*95+14dup (n.*95+14dup) | |
21 | g.46549900A= | CA2392733510 | DIP2A | c.2637+15A= (n.2637+15A=) c.2625+15A= (n.2625+15A=) c.2652A= (p.Ala884=) c.2745+15A= (n.2745+15A=) c.2742+15A= (n.2742+15A=) c.2640+15A= (n.2640+15A=) c.2613+15A= (n.2613+15A=) c.2490+15A= (n.2490+15A=) c.*110A= (n.*110A=) c.2508+15A= (n.2508+15A=) c.2385+15A= (n.2385+15A=) c.*95+15A= (n.*95+15A=) | |
21 | g.46549900A>C | CA638210565 | DIP2A | c.2637+15A>C (n.2637+15A>C) c.2625+15A>C (n.2625+15A>C) c.2652A>C (p.Ala884=) c.2745+15A>C (n.2745+15A>C) c.2742+15A>C (n.2742+15A>C) c.2640+15A>C (n.2640+15A>C) c.2613+15A>C (n.2613+15A>C) c.2490+15A>C (n.2490+15A>C) c.*110A>C (n.*110A>C) c.2508+15A>C (n.2508+15A>C) c.2385+15A>C (n.2385+15A>C) c.*95+15A>C (n.*95+15A>C) | dbSNP gnomAD v2 |
21 | g.46549900A>T | CA2842833496 | DIP2A | c.2637+15A>T (n.2637+15A>T) c.2625+15A>T (n.2625+15A>T) c.2652A>T (p.Ala884=) c.2745+15A>T (n.2745+15A>T) c.2742+15A>T (n.2742+15A>T) c.2640+15A>T (n.2640+15A>T) c.2613+15A>T (n.2613+15A>T) c.2490+15A>T (n.2490+15A>T) c.*110A>T (n.*110A>T) c.2508+15A>T (n.2508+15A>T) c.2385+15A>T (n.2385+15A>T) c.*95+15A>T (n.*95+15A>T) | |
21 | g.46549901C= | CA2392733511 | DIP2A | c.2637+16C= (n.2637+16C=) c.2625+16C= (n.2625+16C=) c.2653C= (p.Arg885=) c.2745+16C= (n.2745+16C=) c.2742+16C= (n.2742+16C=) c.2640+16C= (n.2640+16C=) c.2613+16C= (n.2613+16C=) c.2490+16C= (n.2490+16C=) c.*111C= (n.*111C=) c.2508+16C= (n.2508+16C=) c.2385+16C= (n.2385+16C=) c.*95+16C= (n.*95+16C=) | |
21 | g.46549901C>G | CA410584080 | DIP2A | c.2637+16C>G (n.2637+16C>G) c.2625+16C>G (n.2625+16C>G) c.2653C>G (p.Arg885Gly) c.2745+16C>G (n.2745+16C>G) c.2742+16C>G (n.2742+16C>G) c.2640+16C>G (n.2640+16C>G) c.2613+16C>G (n.2613+16C>G) c.2490+16C>G (n.2490+16C>G) c.*111C>G (n.*111C>G) c.2508+16C>G (n.2508+16C>G) c.2385+16C>G (n.2385+16C>G) c.*95+16C>G (n.*95+16C>G) | |
21 | g.46549901C>T | CA10082492 | DIP2A | c.2637+16C>T (n.2637+16C>T) c.2625+16C>T (n.2625+16C>T) c.2653C>T (p.Arg885Trp) c.2745+16C>T (n.2745+16C>T) c.2742+16C>T (n.2742+16C>T) c.2640+16C>T (n.2640+16C>T) c.2613+16C>T (n.2613+16C>T) c.2490+16C>T (n.2490+16C>T) c.*111C>T (n.*111C>T) c.2508+16C>T (n.2508+16C>T) c.2385+16C>T (n.2385+16C>T) c.*95+16C>T (n.*95+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549902G>A | CA204197 | DIP2A | c.2637+17G>A (n.2637+17G>A) c.2625+17G>A (n.2625+17G>A) c.2654G>A (p.Arg885Gln) c.2745+17G>A (n.2745+17G>A) c.2742+17G>A (n.2742+17G>A) c.2640+17G>A (n.2640+17G>A) c.2613+17G>A (n.2613+17G>A) c.2490+17G>A (n.2490+17G>A) c.*112G>A (n.*112G>A) c.2508+17G>A (n.2508+17G>A) c.2385+17G>A (n.2385+17G>A) c.*95+17G>A (n.*95+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549902G>C | CA410584082 | DIP2A | c.2637+17G>C (n.2637+17G>C) c.2625+17G>C (n.2625+17G>C) c.2654G>C (p.Arg885Pro) c.2745+17G>C (n.2745+17G>C) c.2742+17G>C (n.2742+17G>C) c.2640+17G>C (n.2640+17G>C) c.2613+17G>C (n.2613+17G>C) c.2490+17G>C (n.2490+17G>C) c.*112G>C (n.*112G>C) c.2508+17G>C (n.2508+17G>C) c.2385+17G>C (n.2385+17G>C) c.*95+17G>C (n.*95+17G>C) | |
21 | g.46549902G= | CA2392733512 | DIP2A | c.2637+17G= (n.2637+17G=) c.2625+17G= (n.2625+17G=) c.2654G= (p.Arg885=) c.2745+17G= (n.2745+17G=) c.2742+17G= (n.2742+17G=) c.2640+17G= (n.2640+17G=) c.2613+17G= (n.2613+17G=) c.2490+17G= (n.2490+17G=) c.*112G= (n.*112G=) c.2508+17G= (n.2508+17G=) c.2385+17G= (n.2385+17G=) c.*95+17G= (n.*95+17G=) | |
21 | g.46549902G>T | CA410584081 | DIP2A | c.2637+17G>T (n.2637+17G>T) c.2625+17G>T (n.2625+17G>T) c.2654G>T (p.Arg885Leu) c.2745+17G>T (n.2745+17G>T) c.2742+17G>T (n.2742+17G>T) c.2640+17G>T (n.2640+17G>T) c.2613+17G>T (n.2613+17G>T) c.2490+17G>T (n.2490+17G>T) c.*112G>T (n.*112G>T) c.2508+17G>T (n.2508+17G>T) c.2385+17G>T (n.2385+17G>T) c.*95+17G>T (n.*95+17G>T) | gnomAD v4 |
21 | g.46549903G>A | CA10082493 | DIP2A | c.2637+18G>A (n.2637+18G>A) c.2625+18G>A (n.2625+18G>A) c.2655G>A (p.Arg885=) c.2745+18G>A (n.2745+18G>A) c.2742+18G>A (n.2742+18G>A) c.2640+18G>A (n.2640+18G>A) c.2613+18G>A (n.2613+18G>A) c.2490+18G>A (n.2490+18G>A) c.*113G>A (n.*113G>A) c.2508+18G>A (n.2508+18G>A) c.2385+18G>A (n.2385+18G>A) c.*95+18G>A (n.*95+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549903G>C | CA2842833497 | DIP2A | c.2637+18G>C (n.2637+18G>C) c.2625+18G>C (n.2625+18G>C) c.2655G>C (p.Arg885=) c.2745+18G>C (n.2745+18G>C) c.2742+18G>C (n.2742+18G>C) c.2640+18G>C (n.2640+18G>C) c.2613+18G>C (n.2613+18G>C) c.2490+18G>C (n.2490+18G>C) c.*113G>C (n.*113G>C) c.2508+18G>C (n.2508+18G>C) c.2385+18G>C (n.2385+18G>C) c.*95+18G>C (n.*95+18G>C) | |
21 | g.46549903G= | CA2392733513 | DIP2A | c.2637+18G= (n.2637+18G=) c.2625+18G= (n.2625+18G=) c.2655G= (p.Arg885=) c.2745+18G= (n.2745+18G=) c.2742+18G= (n.2742+18G=) c.2640+18G= (n.2640+18G=) c.2613+18G= (n.2613+18G=) c.2490+18G= (n.2490+18G=) c.*113G= (n.*113G=) c.2508+18G= (n.2508+18G=) c.2385+18G= (n.2385+18G=) c.*95+18G= (n.*95+18G=) | |
21 | g.46549903G>T | CA2655037581 | DIP2A | c.2637+18G>T (n.2637+18G>T) c.2625+18G>T (n.2625+18G>T) c.2655G>T (p.Arg885=) c.2745+18G>T (n.2745+18G>T) c.2742+18G>T (n.2742+18G>T) c.2640+18G>T (n.2640+18G>T) c.2613+18G>T (n.2613+18G>T) c.2490+18G>T (n.2490+18G>T) c.*113G>T (n.*113G>T) c.2508+18G>T (n.2508+18G>T) c.2385+18G>T (n.2385+18G>T) c.*95+18G>T (n.*95+18G>T) | gnomAD v4 |
21 | g.46549904C>A | CA410584085 | DIP2A | c.2637+19C>A (n.2637+19C>A) c.2625+19C>A (n.2625+19C>A) c.2656C>A (p.Pro886Thr) c.2745+19C>A (n.2745+19C>A) c.2742+19C>A (n.2742+19C>A) c.2640+19C>A (n.2640+19C>A) c.2613+19C>A (n.2613+19C>A) c.2490+19C>A (n.2490+19C>A) c.*114C>A (n.*114C>A) c.2508+19C>A (n.2508+19C>A) c.2385+19C>A (n.2385+19C>A) c.*95+19C>A (n.*95+19C>A) | gnomAD v4 |
21 | g.46549904C>G | CA410584083 | DIP2A | c.2637+19C>G (n.2637+19C>G) c.2625+19C>G (n.2625+19C>G) c.2656C>G (p.Pro886Ala) c.2745+19C>G (n.2745+19C>G) c.2742+19C>G (n.2742+19C>G) c.2640+19C>G (n.2640+19C>G) c.2613+19C>G (n.2613+19C>G) c.2490+19C>G (n.2490+19C>G) c.*114C>G (n.*114C>G) c.2508+19C>G (n.2508+19C>G) c.2385+19C>G (n.2385+19C>G) c.*95+19C>G (n.*95+19C>G) | |
21 | g.46549904C>T | CA410584084 | DIP2A | c.2637+19C>T (n.2637+19C>T) c.2625+19C>T (n.2625+19C>T) c.2656C>T (p.Pro886Ser) c.2745+19C>T (n.2745+19C>T) c.2742+19C>T (n.2742+19C>T) c.2640+19C>T (n.2640+19C>T) c.2613+19C>T (n.2613+19C>T) c.2490+19C>T (n.2490+19C>T) c.*114C>T (n.*114C>T) c.2508+19C>T (n.2508+19C>T) c.2385+19C>T (n.2385+19C>T) c.*95+19C>T (n.*95+19C>T) | |
21 | g.46549905C>A | CA410584086 | DIP2A | c.2637+20C>A (n.2637+20C>A) c.2625+20C>A (n.2625+20C>A) c.2657C>A (p.Pro886His) c.2745+20C>A (n.2745+20C>A) c.2742+20C>A (n.2742+20C>A) c.2640+20C>A (n.2640+20C>A) c.2613+20C>A (n.2613+20C>A) c.2490+20C>A (n.2490+20C>A) c.*115C>A (n.*115C>A) c.2508+20C>A (n.2508+20C>A) c.2385+20C>A (n.2385+20C>A) c.*95+20C>A (n.*95+20C>A) | |
21 | g.46549905C= | CA2392733514 | DIP2A | c.2637+20C= (n.2637+20C=) c.2625+20C= (n.2625+20C=) c.2657C= (p.Pro886=) c.2745+20C= (n.2745+20C=) c.2742+20C= (n.2742+20C=) c.2640+20C= (n.2640+20C=) c.2613+20C= (n.2613+20C=) c.2490+20C= (n.2490+20C=) c.*115C= (n.*115C=) c.2508+20C= (n.2508+20C=) c.2385+20C= (n.2385+20C=) c.*95+20C= (n.*95+20C=) | |
21 | g.46549905C>G | CA410584087 | DIP2A | c.2637+20C>G (n.2637+20C>G) c.2625+20C>G (n.2625+20C>G) c.2657C>G (p.Pro886Arg) c.2745+20C>G (n.2745+20C>G) c.2742+20C>G (n.2742+20C>G) c.2640+20C>G (n.2640+20C>G) c.2613+20C>G (n.2613+20C>G) c.2490+20C>G (n.2490+20C>G) c.*115C>G (n.*115C>G) c.2508+20C>G (n.2508+20C>G) c.2385+20C>G (n.2385+20C>G) c.*95+20C>G (n.*95+20C>G) | |
21 | g.46549905C>T | CA10082494 | DIP2A | c.2637+20C>T (n.2637+20C>T) c.2625+20C>T (n.2625+20C>T) c.2657C>T (p.Pro886Leu) c.2745+20C>T (n.2745+20C>T) c.2742+20C>T (n.2742+20C>T) c.2640+20C>T (n.2640+20C>T) c.2613+20C>T (n.2613+20C>T) c.2490+20C>T (n.2490+20C>T) c.*115C>T (n.*115C>T) c.2508+20C>T (n.2508+20C>T) c.2385+20C>T (n.2385+20C>T) c.*95+20C>T (n.*95+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46549906T>C | CA2655037585 | DIP2A | c.2637+21T>C (n.2637+21T>C) c.2625+21T>C (n.2625+21T>C) c.2658T>C (p.Pro886=) c.2745+21T>C (n.2745+21T>C) c.2742+21T>C (n.2742+21T>C) c.2640+21T>C (n.2640+21T>C) c.2613+21T>C (n.2613+21T>C) c.2490+21T>C (n.2490+21T>C) c.*116T>C (n.*116T>C) c.2508+21T>C (n.2508+21T>C) c.2385+21T>C (n.2385+21T>C) c.*95+21T>C (n.*95+21T>C) | gnomAD v4 |
21 | g.46549907A= | CA2392733515 | DIP2A | c.2637+22A= (n.2637+22A=) c.2625+22A= (n.2625+22A=) c.2659A= (p.Met887=) c.2745+22A= (n.2745+22A=) c.2742+22A= (n.2742+22A=) c.2640+22A= (n.2640+22A=) c.2613+22A= (n.2613+22A=) c.2490+22A= (n.2490+22A=) c.*117A= (n.*117A=) c.2508+22A= (n.2508+22A=) c.2385+22A= (n.2385+22A=) c.*95+22A= (n.*95+22A=) | |
21 | g.46549907A>C | CA410584088 | DIP2A | c.2637+22A>C (n.2637+22A>C) c.2625+22A>C (n.2625+22A>C) c.2659A>C (p.Met887Leu) c.2745+22A>C (n.2745+22A>C) c.2742+22A>C (n.2742+22A>C) c.2640+22A>C (n.2640+22A>C) c.2613+22A>C (n.2613+22A>C) c.2490+22A>C (n.2490+22A>C) c.*117A>C (n.*117A>C) c.2508+22A>C (n.2508+22A>C) c.2385+22A>C (n.2385+22A>C) c.*95+22A>C (n.*95+22A>C) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46549907A>G | CA10082495 | DIP2A | c.2637+22A>G (n.2637+22A>G) c.2625+22A>G (n.2625+22A>G) c.2659A>G (p.Met887Val) c.2745+22A>G (n.2745+22A>G) c.2742+22A>G (n.2742+22A>G) c.2640+22A>G (n.2640+22A>G) c.2613+22A>G (n.2613+22A>G) c.2490+22A>G (n.2490+22A>G) c.*117A>G (n.*117A>G) c.2508+22A>G (n.2508+22A>G) c.2385+22A>G (n.2385+22A>G) c.*95+22A>G (n.*95+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549907A>T | CA410584089 | DIP2A | c.2637+22A>T (n.2637+22A>T) c.2625+22A>T (n.2625+22A>T) c.2659A>T (p.Met887Leu) c.2745+22A>T (n.2745+22A>T) c.2742+22A>T (n.2742+22A>T) c.2640+22A>T (n.2640+22A>T) c.2613+22A>T (n.2613+22A>T) c.2490+22A>T (n.2490+22A>T) c.*117A>T (n.*117A>T) c.2508+22A>T (n.2508+22A>T) c.2385+22A>T (n.2385+22A>T) c.*95+22A>T (n.*95+22A>T) | |
21 | g.46549908T>A | CA410584090 | DIP2A | c.2637+23T>A (n.2637+23T>A) c.2625+23T>A (n.2625+23T>A) c.2660T>A (p.Met887Lys) c.2745+23T>A (n.2745+23T>A) c.2742+23T>A (n.2742+23T>A) c.2640+23T>A (n.2640+23T>A) c.2613+23T>A (n.2613+23T>A) c.2490+23T>A (n.2490+23T>A) c.*118T>A (n.*118T>A) c.2508+23T>A (n.2508+23T>A) c.2385+23T>A (n.2385+23T>A) c.*95+23T>A (n.*95+23T>A) | |
21 | g.46549908T>C | CA410584091 | DIP2A | c.2637+23T>C (n.2637+23T>C) c.2625+23T>C (n.2625+23T>C) c.2660T>C (p.Met887Thr) c.2745+23T>C (n.2745+23T>C) c.2742+23T>C (n.2742+23T>C) c.2640+23T>C (n.2640+23T>C) c.2613+23T>C (n.2613+23T>C) c.2490+23T>C (n.2490+23T>C) c.*118T>C (n.*118T>C) c.2508+23T>C (n.2508+23T>C) c.2385+23T>C (n.2385+23T>C) c.*95+23T>C (n.*95+23T>C) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46549908T>G | CA410584092 | DIP2A | c.2637+23T>G (n.2637+23T>G) c.2625+23T>G (n.2625+23T>G) c.2660T>G (p.Met887Arg) c.2745+23T>G (n.2745+23T>G) c.2742+23T>G (n.2742+23T>G) c.2640+23T>G (n.2640+23T>G) c.2613+23T>G (n.2613+23T>G) c.2490+23T>G (n.2490+23T>G) c.*118T>G (n.*118T>G) c.2508+23T>G (n.2508+23T>G) c.2385+23T>G (n.2385+23T>G) c.*95+23T>G (n.*95+23T>G) | |
21 | g.46549908T= | CA2392733516 | DIP2A | c.2637+23T= (n.2637+23T=) c.2625+23T= (n.2625+23T=) c.2660T= (p.Met887=) c.2745+23T= (n.2745+23T=) c.2742+23T= (n.2742+23T=) c.2640+23T= (n.2640+23T=) c.2613+23T= (n.2613+23T=) c.2490+23T= (n.2490+23T=) c.*118T= (n.*118T=) c.2508+23T= (n.2508+23T=) c.2385+23T= (n.2385+23T=) c.*95+23T= (n.*95+23T=) | |
21 | g.46549909G>A | CA410584095 | DIP2A | c.2637+24G>A (n.2637+24G>A) c.2625+24G>A (n.2625+24G>A) c.2661G>A (p.Met887Ile) c.2745+24G>A (n.2745+24G>A) c.2742+24G>A (n.2742+24G>A) c.2640+24G>A (n.2640+24G>A) c.2613+24G>A (n.2613+24G>A) c.2490+24G>A (n.2490+24G>A) c.*119G>A (n.*119G>A) c.2508+24G>A (n.2508+24G>A) c.2385+24G>A (n.2385+24G>A) c.*95+24G>A (n.*95+24G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46549909G>C | CA410584093 | DIP2A | c.2637+24G>C (n.2637+24G>C) c.2625+24G>C (n.2625+24G>C) c.2661G>C (p.Met887Ile) c.2745+24G>C (n.2745+24G>C) c.2742+24G>C (n.2742+24G>C) c.2640+24G>C (n.2640+24G>C) c.2613+24G>C (n.2613+24G>C) c.2490+24G>C (n.2490+24G>C) c.*119G>C (n.*119G>C) c.2508+24G>C (n.2508+24G>C) c.2385+24G>C (n.2385+24G>C) c.*95+24G>C (n.*95+24G>C) | |
21 | g.46549909G= | CA2392733517 | DIP2A | c.2637+24G= (n.2637+24G=) c.2625+24G= (n.2625+24G=) c.2661G= (p.Met887=) c.2745+24G= (n.2745+24G=) c.2742+24G= (n.2742+24G=) c.2640+24G= (n.2640+24G=) c.2613+24G= (n.2613+24G=) c.2490+24G= (n.2490+24G=) c.*119G= (n.*119G=) c.2508+24G= (n.2508+24G=) c.2385+24G= (n.2385+24G=) c.*95+24G= (n.*95+24G=) | |
21 | g.46549909G>T | CA410584094 | DIP2A | c.2637+24G>T (n.2637+24G>T) c.2625+24G>T (n.2625+24G>T) c.2661G>T (p.Met887Ile) c.2745+24G>T (n.2745+24G>T) c.2742+24G>T (n.2742+24G>T) c.2640+24G>T (n.2640+24G>T) c.2613+24G>T (n.2613+24G>T) c.2490+24G>T (n.2490+24G>T) c.*119G>T (n.*119G>T) c.2508+24G>T (n.2508+24G>T) c.2385+24G>T (n.2385+24G>T) c.*95+24G>T (n.*95+24G>T) | gnomAD v4 |
21 | g.46549910G>A | CA410584096 | DIP2A | c.2637+25G>A (n.2637+25G>A) c.2625+25G>A (n.2625+25G>A) c.2662G>A (p.Val888Ile) c.2745+25G>A (n.2745+25G>A) c.2742+25G>A (n.2742+25G>A) c.2640+25G>A (n.2640+25G>A) c.2613+25G>A (n.2613+25G>A) c.2490+25G>A (n.2490+25G>A) c.*120G>A (n.*120G>A) c.2508+25G>A (n.2508+25G>A) c.2385+25G>A (n.2385+25G>A) c.*95+25G>A (n.*95+25G>A) | |
21 | g.46549910G>C | CA410584097 | DIP2A | c.2637+25G>C (n.2637+25G>C) c.2625+25G>C (n.2625+25G>C) c.2662G>C (p.Val888Leu) c.2745+25G>C (n.2745+25G>C) c.2742+25G>C (n.2742+25G>C) c.2640+25G>C (n.2640+25G>C) c.2613+25G>C (n.2613+25G>C) c.2490+25G>C (n.2490+25G>C) c.*120G>C (n.*120G>C) c.2508+25G>C (n.2508+25G>C) c.2385+25G>C (n.2385+25G>C) c.*95+25G>C (n.*95+25G>C) | |
21 | g.46549910G= | CA2392733518 | DIP2A | c.2637+25G= (n.2637+25G=) c.2625+25G= (n.2625+25G=) c.2662G= (p.Val888=) c.2745+25G= (n.2745+25G=) c.2742+25G= (n.2742+25G=) c.2640+25G= (n.2640+25G=) c.2613+25G= (n.2613+25G=) c.2490+25G= (n.2490+25G=) c.*120G= (n.*120G=) c.2508+25G= (n.2508+25G=) c.2385+25G= (n.2385+25G=) c.*95+25G= (n.*95+25G=) | |
21 | g.46549910G>T | CA10082496 | DIP2A | c.2637+25G>T (n.2637+25G>T) c.2625+25G>T (n.2625+25G>T) c.2662G>T (p.Val888Phe) c.2745+25G>T (n.2745+25G>T) c.2742+25G>T (n.2742+25G>T) c.2640+25G>T (n.2640+25G>T) c.2613+25G>T (n.2613+25G>T) c.2490+25G>T (n.2490+25G>T) c.*120G>T (n.*120G>T) c.2508+25G>T (n.2508+25G>T) c.2385+25G>T (n.2385+25G>T) c.*95+25G>T (n.*95+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549911T>A | CA410584098 | DIP2A | c.2637+26T>A (n.2637+26T>A) c.2625+26T>A (n.2625+26T>A) c.2663T>A (p.Val888Asp) c.2745+26T>A (n.2745+26T>A) c.2742+26T>A (n.2742+26T>A) c.2640+26T>A (n.2640+26T>A) c.2613+26T>A (n.2613+26T>A) c.2490+26T>A (n.2490+26T>A) c.*121T>A (n.*121T>A) c.2508+26T>A (n.2508+26T>A) c.2385+26T>A (n.2385+26T>A) c.*95+26T>A (n.*95+26T>A) | |
21 | g.46549911T>C | CA410584099 | DIP2A | c.2637+26T>C (n.2637+26T>C) c.2625+26T>C (n.2625+26T>C) c.2663T>C (p.Val888Ala) c.2745+26T>C (n.2745+26T>C) c.2742+26T>C (n.2742+26T>C) c.2640+26T>C (n.2640+26T>C) c.2613+26T>C (n.2613+26T>C) c.2490+26T>C (n.2490+26T>C) c.*121T>C (n.*121T>C) c.2508+26T>C (n.2508+26T>C) c.2385+26T>C (n.2385+26T>C) c.*95+26T>C (n.*95+26T>C) | |
21 | g.46549911T>G | CA410584100 | DIP2A | c.2637+26T>G (n.2637+26T>G) c.2625+26T>G (n.2625+26T>G) c.2663T>G (p.Val888Gly) c.2745+26T>G (n.2745+26T>G) c.2742+26T>G (n.2742+26T>G) c.2640+26T>G (n.2640+26T>G) c.2613+26T>G (n.2613+26T>G) c.2490+26T>G (n.2490+26T>G) c.*121T>G (n.*121T>G) c.2508+26T>G (n.2508+26T>G) c.2385+26T>G (n.2385+26T>G) c.*95+26T>G (n.*95+26T>G) | |
21 | g.46549912del | CA2655037589 | DIP2A | c.2637+27del (n.2637+27del) c.2625+27del (n.2625+27del) c.2664del (p.Arg889GlyfsTer?) c.2745+27del (n.2745+27del) c.2742+27del (n.2742+27del) c.2640+27del (n.2640+27del) c.2613+27del (n.2613+27del) c.2490+27del (n.2490+27del) c.*122del (n.*122del) c.2508+27del (n.2508+27del) c.2385+27del (n.2385+27del) c.*95+27del (n.*95+27del) | gnomAD v4 |
21 | g.46549912T>G | CA2392733520 | DIP2A | c.2637+27T>G (n.2637+27T>G) c.2625+27T>G (n.2625+27T>G) c.2664T>G (p.Val888=) c.2745+27T>G (n.2745+27T>G) c.2742+27T>G (n.2742+27T>G) c.2640+27T>G (n.2640+27T>G) c.2613+27T>G (n.2613+27T>G) c.2490+27T>G (n.2490+27T>G) c.*122T>G (n.*122T>G) c.2508+27T>G (n.2508+27T>G) c.2385+27T>G (n.2385+27T>G) c.*95+27T>G (n.*95+27T>G) | dbSNP |
21 | g.46549912T= | CA2392733519 | DIP2A | c.2637+27T= (n.2637+27T=) c.2625+27T= (n.2625+27T=) c.2664T= (p.Val888=) c.2745+27T= (n.2745+27T=) c.2742+27T= (n.2742+27T=) c.2640+27T= (n.2640+27T=) c.2613+27T= (n.2613+27T=) c.2490+27T= (n.2490+27T=) c.*122T= (n.*122T=) c.2508+27T= (n.2508+27T=) c.2385+27T= (n.2385+27T=) c.*95+27T= (n.*95+27T=) | |
21 | g.46549913C= | CA2392733521 | DIP2A | c.2637+28C= (n.2637+28C=) c.2625+28C= (n.2625+28C=) c.2665C= (p.Arg889=) c.2745+28C= (n.2745+28C=) c.2742+28C= (n.2742+28C=) c.2640+28C= (n.2640+28C=) c.2613+28C= (n.2613+28C=) c.2490+28C= (n.2490+28C=) c.*123C= (n.*123C=) c.2508+28C= (n.2508+28C=) c.2385+28C= (n.2385+28C=) c.*95+28C= (n.*95+28C=) | |
21 | g.46549913C>G | CA410584101 | DIP2A | c.2637+28C>G (n.2637+28C>G) c.2625+28C>G (n.2625+28C>G) c.2665C>G (p.Arg889Gly) c.2745+28C>G (n.2745+28C>G) c.2742+28C>G (n.2742+28C>G) c.2640+28C>G (n.2640+28C>G) c.2613+28C>G (n.2613+28C>G) c.2490+28C>G (n.2490+28C>G) c.*123C>G (n.*123C>G) c.2508+28C>G (n.2508+28C>G) c.2385+28C>G (n.2385+28C>G) c.*95+28C>G (n.*95+28C>G) | gnomAD v4 |
21 | g.46549913C>T | CA10082497 | DIP2A | c.2637+28C>T (n.2637+28C>T) c.2625+28C>T (n.2625+28C>T) c.2665C>T (p.Arg889Trp) c.2745+28C>T (n.2745+28C>T) c.2742+28C>T (n.2742+28C>T) c.2640+28C>T (n.2640+28C>T) c.2613+28C>T (n.2613+28C>T) c.2490+28C>T (n.2490+28C>T) c.*123C>T (n.*123C>T) c.2508+28C>T (n.2508+28C>T) c.2385+28C>T (n.2385+28C>T) c.*95+28C>T (n.*95+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549914G>A | CA10082498 | DIP2A | c.2637+29G>A (n.2637+29G>A) c.2625+29G>A (n.2625+29G>A) c.2666G>A (p.Arg889Gln) c.2745+29G>A (n.2745+29G>A) c.2742+29G>A (n.2742+29G>A) c.2640+29G>A (n.2640+29G>A) c.2613+29G>A (n.2613+29G>A) c.2490+29G>A (n.2490+29G>A) c.*124G>A (n.*124G>A) c.2508+29G>A (n.2508+29G>A) c.2385+29G>A (n.2385+29G>A) c.*95+29G>A (n.*95+29G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46549914G>C | CA410584102 | DIP2A | c.2637+29G>C (n.2637+29G>C) c.2625+29G>C (n.2625+29G>C) c.2666G>C (p.Arg889Pro) c.2745+29G>C (n.2745+29G>C) c.2742+29G>C (n.2742+29G>C) c.2640+29G>C (n.2640+29G>C) c.2613+29G>C (n.2613+29G>C) c.2490+29G>C (n.2490+29G>C) c.*124G>C (n.*124G>C) c.2508+29G>C (n.2508+29G>C) c.2385+29G>C (n.2385+29G>C) c.*95+29G>C (n.*95+29G>C) | |
21 | g.46549914G= | CA2392733522 | DIP2A | c.2637+29G= (n.2637+29G=) c.2625+29G= (n.2625+29G=) c.2666G= (p.Arg889=) c.2745+29G= (n.2745+29G=) c.2742+29G= (n.2742+29G=) c.2640+29G= (n.2640+29G=) c.2613+29G= (n.2613+29G=) c.2490+29G= (n.2490+29G=) c.*124G= (n.*124G=) c.2508+29G= (n.2508+29G=) c.2385+29G= (n.2385+29G=) c.*95+29G= (n.*95+29G=) | |
21 | g.46549914G>T | CA410584103 | DIP2A | c.2637+29G>T (n.2637+29G>T) c.2625+29G>T (n.2625+29G>T) c.2666G>T (p.Arg889Leu) c.2745+29G>T (n.2745+29G>T) c.2742+29G>T (n.2742+29G>T) c.2640+29G>T (n.2640+29G>T) c.2613+29G>T (n.2613+29G>T) c.2490+29G>T (n.2490+29G>T) c.*124G>T (n.*124G>T) c.2508+29G>T (n.2508+29G>T) c.2385+29G>T (n.2385+29G>T) c.*95+29G>T (n.*95+29G>T) | |
21 | g.46549915G>A | CA2655037591 | DIP2A | c.2637+30G>A (n.2637+30G>A) c.2625+30G>A (n.2625+30G>A) c.2667G>A (p.Arg889=) c.2745+30G>A (n.2745+30G>A) c.2742+30G>A (n.2742+30G>A) c.2640+30G>A (n.2640+30G>A) c.2613+30G>A (n.2613+30G>A) c.2490+30G>A (n.2490+30G>A) c.*125G>A (n.*125G>A) c.2508+30G>A (n.2508+30G>A) c.2385+30G>A (n.2385+30G>A) c.*95+30G>A (n.*95+30G>A) | gnomAD v4 |
21 | g.46549915G>C | CA2838977847 | DIP2A | c.2637+30G>C (n.2637+30G>C) c.2625+30G>C (n.2625+30G>C) c.2667G>C (p.Arg889=) c.2745+30G>C (n.2745+30G>C) c.2742+30G>C (n.2742+30G>C) c.2640+30G>C (n.2640+30G>C) c.2613+30G>C (n.2613+30G>C) c.2490+30G>C (n.2490+30G>C) c.*125G>C (n.*125G>C) c.2508+30G>C (n.2508+30G>C) c.2385+30G>C (n.2385+30G>C) c.*95+30G>C (n.*95+30G>C) | |
21 | g.46549915G>T | CA2655037592 | DIP2A | c.2637+30G>T (n.2637+30G>T) c.2625+30G>T (n.2625+30G>T) c.2667G>T (p.Arg889=) c.2745+30G>T (n.2745+30G>T) c.2742+30G>T (n.2742+30G>T) c.2640+30G>T (n.2640+30G>T) c.2613+30G>T (n.2613+30G>T) c.2490+30G>T (n.2490+30G>T) c.*125G>T (n.*125G>T) c.2508+30G>T (n.2508+30G>T) c.2385+30G>T (n.2385+30G>T) c.*95+30G>T (n.*95+30G>T) | gnomAD v4 |
21 | g.46549916T>A | CA410584105 | DIP2A | c.2637+31T>A (n.2637+31T>A) c.2625+31T>A (n.2625+31T>A) c.2668T>A (p.Ter890Arg) c.2745+31T>A (n.2745+31T>A) c.2742+31T>A (n.2742+31T>A) c.2640+31T>A (n.2640+31T>A) c.2613+31T>A (n.2613+31T>A) c.2490+31T>A (n.2490+31T>A) c.*126T>A (n.*126T>A) c.2508+31T>A (n.2508+31T>A) c.2385+31T>A (n.2385+31T>A) c.*95+31T>A (n.*95+31T>A) | dbSNP gnomAD v4 |
21 | g.46549916T>C | CA410584106 | DIP2A | c.2637+31T>C (n.2637+31T>C) c.2625+31T>C (n.2625+31T>C) c.2668T>C (p.Ter890Arg) c.2745+31T>C (n.2745+31T>C) c.2742+31T>C (n.2742+31T>C) c.2640+31T>C (n.2640+31T>C) c.2613+31T>C (n.2613+31T>C) c.2490+31T>C (n.2490+31T>C) c.*126T>C (n.*126T>C) c.2508+31T>C (n.2508+31T>C) c.2385+31T>C (n.2385+31T>C) c.*95+31T>C (n.*95+31T>C) | |
21 | g.46549916T>G | CA410584104 | DIP2A | c.2637+31T>G (n.2637+31T>G) c.2625+31T>G (n.2625+31T>G) c.2668T>G (p.Ter890Gly) c.2745+31T>G (n.2745+31T>G) c.2742+31T>G (n.2742+31T>G) c.2640+31T>G (n.2640+31T>G) c.2613+31T>G (n.2613+31T>G) c.2490+31T>G (n.2490+31T>G) c.*126T>G (n.*126T>G) c.2508+31T>G (n.2508+31T>G) c.2385+31T>G (n.2385+31T>G) c.*95+31T>G (n.*95+31T>G) | dbSNP |
21 | g.46549916T= | CA2392733523 | DIP2A | c.2637+31T= (n.2637+31T=) c.2625+31T= (n.2625+31T=) c.2668T= (p.Ter890=) c.2745+31T= (n.2745+31T=) c.2742+31T= (n.2742+31T=) c.2640+31T= (n.2640+31T=) c.2613+31T= (n.2613+31T=) c.2490+31T= (n.2490+31T=) c.*126T= (n.*126T=) c.2508+31T= (n.2508+31T=) c.2385+31T= (n.2385+31T=) c.*95+31T= (n.*95+31T=) | |
21 | g.46549917G>C | CA410584107 | DIP2A | c.2637+32G>C (n.2637+32G>C) c.2625+32G>C (n.2625+32G>C) c.2669G>C (p.Ter890Ser) c.2745+32G>C (n.2745+32G>C) c.2742+32G>C (n.2742+32G>C) c.2640+32G>C (n.2640+32G>C) c.2613+32G>C (n.2613+32G>C) c.2490+32G>C (n.2490+32G>C) c.*127G>C (n.*127G>C) c.2508+32G>C (n.2508+32G>C) c.2385+32G>C (n.2385+32G>C) c.*95+32G>C (n.*95+32G>C) | gnomAD v4 |
21 | g.46549917G>T | CA410584108 | DIP2A | c.2637+32G>T (n.2637+32G>T) c.2625+32G>T (n.2625+32G>T) c.2669G>T (p.Ter890Leu) c.2745+32G>T (n.2745+32G>T) c.2742+32G>T (n.2742+32G>T) c.2640+32G>T (n.2640+32G>T) c.2613+32G>T (n.2613+32G>T) c.2490+32G>T (n.2490+32G>T) c.*127G>T (n.*127G>T) c.2508+32G>T (n.2508+32G>T) c.2385+32G>T (n.2385+32G>T) c.*95+32G>T (n.*95+32G>T) | |
21 | g.46549918A>C | CA410584109 | DIP2A | c.2637+33A>C (n.2637+33A>C) c.2625+33A>C (n.2625+33A>C) c.2670A>C (p.Ter890Cys) c.2745+33A>C (n.2745+33A>C) c.2742+33A>C (n.2742+33A>C) c.2640+33A>C (n.2640+33A>C) c.2613+33A>C (n.2613+33A>C) c.2490+33A>C (n.2490+33A>C) c.*128A>C (n.*128A>C) c.2508+33A>C (n.2508+33A>C) c.2385+33A>C (n.2385+33A>C) c.*95+33A>C (n.*95+33A>C) | |
21 | g.46549918A>G | CA410584110 | DIP2A | c.2637+33A>G (n.2637+33A>G) c.2625+33A>G (n.2625+33A>G) c.2670A>G (p.Ter890Trp) c.2745+33A>G (n.2745+33A>G) c.2742+33A>G (n.2742+33A>G) c.2640+33A>G (n.2640+33A>G) c.2613+33A>G (n.2613+33A>G) c.2490+33A>G (n.2490+33A>G) c.*128A>G (n.*128A>G) c.2508+33A>G (n.2508+33A>G) c.2385+33A>G (n.2385+33A>G) c.*95+33A>G (n.*95+33A>G) | |
21 | g.46549918A>T | CA410584111 | DIP2A | c.2637+33A>T (n.2637+33A>T) c.2625+33A>T (n.2625+33A>T) c.2670A>T (p.Ter890Cys) c.2745+33A>T (n.2745+33A>T) c.2742+33A>T (n.2742+33A>T) c.2640+33A>T (n.2640+33A>T) c.2613+33A>T (n.2613+33A>T) c.2490+33A>T (n.2490+33A>T) c.*128A>T (n.*128A>T) c.2508+33A>T (n.2508+33A>T) c.2385+33A>T (n.2385+33A>T) c.*95+33A>T (n.*95+33A>T) | |
21 | g.46549919A= | CA2392733524 | DIP2A | c.2637+34A= (n.2637+34A=) c.2625+34A= (n.2625+34A=) c.*1A= (n.*1A=) c.2745+34A= (n.2745+34A=) c.2742+34A= (n.2742+34A=) c.2640+34A= (n.2640+34A=) c.2613+34A= (n.2613+34A=) c.2490+34A= (n.2490+34A=) c.*129A= (n.*129A=) c.2508+34A= (n.2508+34A=) c.2385+34A= (n.2385+34A=) c.*95+34A= (n.*95+34A=) | |
21 | g.46549919A>C | CA2655037594 | DIP2A | c.2637+34A>C (n.2637+34A>C) c.2625+34A>C (n.2625+34A>C) c.*1A>C (n.*1A>C) c.2745+34A>C (n.2745+34A>C) c.2742+34A>C (n.2742+34A>C) c.2640+34A>C (n.2640+34A>C) c.2613+34A>C (n.2613+34A>C) c.2490+34A>C (n.2490+34A>C) c.*129A>C (n.*129A>C) c.2508+34A>C (n.2508+34A>C) c.2385+34A>C (n.2385+34A>C) c.*95+34A>C (n.*95+34A>C) | gnomAD v4 |
21 | g.46549919A>G | CA322006392 | DIP2A | c.2637+34A>G (n.2637+34A>G) c.2625+34A>G (n.2625+34A>G) c.*1A>G (n.*1A>G) c.2745+34A>G (n.2745+34A>G) c.2742+34A>G (n.2742+34A>G) c.2640+34A>G (n.2640+34A>G) c.2613+34A>G (n.2613+34A>G) c.2490+34A>G (n.2490+34A>G) c.*129A>G (n.*129A>G) c.2508+34A>G (n.2508+34A>G) c.2385+34A>G (n.2385+34A>G) c.*95+34A>G (n.*95+34A>G) | dbSNP gnomAD v4 |
21 | g.46549921C>A | CA2655037596 | DIP2A | c.2637+36C>A (n.2637+36C>A) c.2625+36C>A (n.2625+36C>A) c.*3C>A (n.*3C>A) c.2745+36C>A (n.2745+36C>A) c.2742+36C>A (n.2742+36C>A) c.2640+36C>A (n.2640+36C>A) c.2613+36C>A (n.2613+36C>A) c.2490+36C>A (n.2490+36C>A) c.*131C>A (n.*131C>A) c.2508+36C>A (n.2508+36C>A) c.2385+36C>A (n.2385+36C>A) c.*95+36C>A (n.*95+36C>A) | gnomAD v4 |
21 | g.46549921C= | CA2392733525 | DIP2A | c.2637+36C= (n.2637+36C=) c.2625+36C= (n.2625+36C=) c.*3C= (n.*3C=) c.2745+36C= (n.2745+36C=) c.2742+36C= (n.2742+36C=) c.2640+36C= (n.2640+36C=) c.2613+36C= (n.2613+36C=) c.2490+36C= (n.2490+36C=) c.*131C= (n.*131C=) c.2508+36C= (n.2508+36C=) c.2385+36C= (n.2385+36C=) c.*95+36C= (n.*95+36C=) | |
21 | g.46549921C>T | CA10082499 | DIP2A | c.2637+36C>T (n.2637+36C>T) c.2625+36C>T (n.2625+36C>T) c.*3C>T (n.*3C>T) c.2745+36C>T (n.2745+36C>T) c.2742+36C>T (n.2742+36C>T) c.2640+36C>T (n.2640+36C>T) c.2613+36C>T (n.2613+36C>T) c.2490+36C>T (n.2490+36C>T) c.*131C>T (n.*131C>T) c.2508+36C>T (n.2508+36C>T) c.2385+36C>T (n.2385+36C>T) c.*95+36C>T (n.*95+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |