UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.22903736G>A | CA391334236 | CYFIP1 | c.2552C>T (p.Pro851Leu) c.2558C>T (p.Pro853Leu) c.1265C>T (p.Pro422Leu) n.1705C>T c.2957C>T (p.Pro986Leu) c.2660C>T (p.Pro887Leu) c.878C>T (p.Pro293Leu) c.2468C>T (p.Pro823Leu) c.2192C>T (p.Pro731Leu) c.2456C>T (p.Pro819Leu) c.2654C>T (p.Pro885Leu) c.3059C>T (p.Pro1020Leu) | gnomAD v4 |
| 15 | g.22903736G>C | CA7425125 | CYFIP1 | c.2552C>G (p.Pro851Arg) c.2558C>G (p.Pro853Arg) c.1265C>G (p.Pro422Arg) n.1705C>G c.2957C>G (p.Pro986Arg) c.2660C>G (p.Pro887Arg) c.878C>G (p.Pro293Arg) c.2468C>G (p.Pro823Arg) c.2192C>G (p.Pro731Arg) c.2456C>G (p.Pro819Arg) c.2654C>G (p.Pro885Arg) c.3059C>G (p.Pro1020Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.22903736G= | CA2163977950 | CYFIP1 | c.2552C= (p.Pro851=) c.2558C= (p.Pro853=) c.1265C= (p.Pro422=) n.1705C= c.2957C= (p.Pro986=) c.2660C= (p.Pro887=) c.878C= (p.Pro293=) c.2468C= (p.Pro823=) c.2192C= (p.Pro731=) c.2456C= (p.Pro819=) c.2654C= (p.Pro885=) c.3059C= (p.Pro1020=) | |
| 15 | g.22903736G>T | CA391334234 | CYFIP1 | c.2552C>A (p.Pro851His) c.2558C>A (p.Pro853His) c.1265C>A (p.Pro422His) n.1705C>A c.2957C>A (p.Pro986His) c.2660C>A (p.Pro887His) c.878C>A (p.Pro293His) c.2468C>A (p.Pro823His) c.2192C>A (p.Pro731His) c.2456C>A (p.Pro819His) c.2654C>A (p.Pro885His) c.3059C>A (p.Pro1020His) | |
| 15 | g.22903737G>A | CA391334238 | CYFIP1 | c.2551C>T (p.Pro851Ser) c.2557C>T (p.Pro853Ser) c.1264C>T (p.Pro422Ser) n.1704C>T c.2956C>T (p.Pro986Ser) c.2659C>T (p.Pro887Ser) c.877C>T (p.Pro293Ser) c.2467C>T (p.Pro823Ser) c.2191C>T (p.Pro731Ser) c.2455C>T (p.Pro819Ser) c.2653C>T (p.Pro885Ser) c.3058C>T (p.Pro1020Ser) | gnomAD v4 |
| 15 | g.22903737G>C | CA391334240 | CYFIP1 | c.2551C>G (p.Pro851Ala) c.2557C>G (p.Pro853Ala) c.1264C>G (p.Pro422Ala) n.1704C>G c.2956C>G (p.Pro986Ala) c.2659C>G (p.Pro887Ala) c.877C>G (p.Pro293Ala) c.2467C>G (p.Pro823Ala) c.2191C>G (p.Pro731Ala) c.2455C>G (p.Pro819Ala) c.2653C>G (p.Pro885Ala) c.3058C>G (p.Pro1020Ala) | |
| 15 | g.22903737G>T | CA391334241 | CYFIP1 | c.2551C>A (p.Pro851Thr) c.2557C>A (p.Pro853Thr) c.1264C>A (p.Pro422Thr) n.1704C>A c.2956C>A (p.Pro986Thr) c.2659C>A (p.Pro887Thr) c.877C>A (p.Pro293Thr) c.2467C>A (p.Pro823Thr) c.2191C>A (p.Pro731Thr) c.2455C>A (p.Pro819Thr) c.2653C>A (p.Pro885Thr) c.3058C>A (p.Pro1020Thr) | |
| 15 | g.22903738C>A | CA488526433 | CYFIP1 | c.2550G>T (p.Leu850=) c.2556G>T (p.Leu852=) c.1263G>T (p.Leu421=) n.1703G>T c.2955G>T (p.Leu985=) c.2658G>T (p.Leu886=) c.876G>T (p.Leu292=) c.2466G>T (p.Leu822=) c.2190G>T (p.Leu730=) c.2454G>T (p.Leu818=) c.2652G>T (p.Leu884=) c.3057G>T (p.Leu1019=) | |
| 15 | g.22903738C>G | CA488526431 | CYFIP1 | c.2550G>C (p.Leu850=) c.2556G>C (p.Leu852=) c.1263G>C (p.Leu421=) n.1703G>C c.2955G>C (p.Leu985=) c.2658G>C (p.Leu886=) c.876G>C (p.Leu292=) c.2466G>C (p.Leu822=) c.2190G>C (p.Leu730=) c.2454G>C (p.Leu818=) c.2652G>C (p.Leu884=) c.3057G>C (p.Leu1019=) | |
| 15 | g.22903738C>T | CA488526432 | CYFIP1 | c.2550G>A (p.Leu850=) c.2556G>A (p.Leu852=) c.1263G>A (p.Leu421=) n.1703G>A c.2955G>A (p.Leu985=) c.2658G>A (p.Leu886=) c.876G>A (p.Leu292=) c.2466G>A (p.Leu822=) c.2190G>A (p.Leu730=) c.2454G>A (p.Leu818=) c.2652G>A (p.Leu884=) c.3057G>A (p.Leu1019=) | |
| 15 | g.22903739A>C | CA391334243 | CYFIP1 | c.2549T>G (p.Leu850Arg) c.2555T>G (p.Leu852Arg) c.1262T>G (p.Leu421Arg) n.1702T>G c.2954T>G (p.Leu985Arg) c.2657T>G (p.Leu886Arg) c.875T>G (p.Leu292Arg) c.2465T>G (p.Leu822Arg) c.2189T>G (p.Leu730Arg) c.2453T>G (p.Leu818Arg) c.2651T>G (p.Leu884Arg) c.3056T>G (p.Leu1019Arg) | |
| 15 | g.22903739A>G | CA391334245 | CYFIP1 | c.2549T>C (p.Leu850Pro) c.2555T>C (p.Leu852Pro) c.1262T>C (p.Leu421Pro) n.1702T>C c.2954T>C (p.Leu985Pro) c.2657T>C (p.Leu886Pro) c.875T>C (p.Leu292Pro) c.2465T>C (p.Leu822Pro) c.2189T>C (p.Leu730Pro) c.2453T>C (p.Leu818Pro) c.2651T>C (p.Leu884Pro) c.3056T>C (p.Leu1019Pro) | |
| 15 | g.22903739A>T | CA391334247 | CYFIP1 | c.2549T>A (p.Leu850Gln) c.2555T>A (p.Leu852Gln) c.1262T>A (p.Leu421Gln) n.1702T>A c.2954T>A (p.Leu985Gln) c.2657T>A (p.Leu886Gln) c.875T>A (p.Leu292Gln) c.2465T>A (p.Leu822Gln) c.2189T>A (p.Leu730Gln) c.2453T>A (p.Leu818Gln) c.2651T>A (p.Leu884Gln) c.3056T>A (p.Leu1019Gln) | |
| 15 | g.22903740G>A | CA488526434 | CYFIP1 | c.2548C>T (p.Leu850=) c.2554C>T (p.Leu852=) c.1261C>T (p.Leu421=) n.1701C>T c.2953C>T (p.Leu985=) c.2656C>T (p.Leu886=) c.874C>T (p.Leu292=) c.2464C>T (p.Leu822=) c.2188C>T (p.Leu730=) c.2452C>T (p.Leu818=) c.2650C>T (p.Leu884=) c.3055C>T (p.Leu1019=) | gnomAD v4 |
| 15 | g.22903740G>C | CA391334249 | CYFIP1 | c.2548C>G (p.Leu850Val) c.2554C>G (p.Leu852Val) c.1261C>G (p.Leu421Val) n.1701C>G c.2953C>G (p.Leu985Val) c.2656C>G (p.Leu886Val) c.874C>G (p.Leu292Val) c.2464C>G (p.Leu822Val) c.2188C>G (p.Leu730Val) c.2452C>G (p.Leu818Val) c.2650C>G (p.Leu884Val) c.3055C>G (p.Leu1019Val) | |
| 15 | g.22903740G>T | CA391334250 | CYFIP1 | c.2548C>A (p.Leu850Met) c.2554C>A (p.Leu852Met) c.1261C>A (p.Leu421Met) n.1701C>A c.2953C>A (p.Leu985Met) c.2656C>A (p.Leu886Met) c.874C>A (p.Leu292Met) c.2464C>A (p.Leu822Met) c.2188C>A (p.Leu730Met) c.2452C>A (p.Leu818Met) c.2650C>A (p.Leu884Met) c.3055C>A (p.Leu1019Met) | |
| 15 | g.22903741G>A | CA488526435 | CYFIP1 | c.2547C>T (p.Phe849=) c.2553C>T (p.Phe851=) c.1260C>T (p.Phe420=) n.1700C>T c.2952C>T (p.Phe984=) c.2655C>T (p.Phe885=) c.873C>T (p.Phe291=) c.2463C>T (p.Phe821=) c.2187C>T (p.Phe729=) c.2451C>T (p.Phe817=) c.2649C>T (p.Phe883=) c.3054C>T (p.Phe1018=) | dbSNP gnomAD v4 |
| 15 | g.22903741G>C | CA391334251 | CYFIP1 | c.2547C>G (p.Phe849Leu) c.2553C>G (p.Phe851Leu) c.1260C>G (p.Phe420Leu) n.1700C>G c.2952C>G (p.Phe984Leu) c.2655C>G (p.Phe885Leu) c.873C>G (p.Phe291Leu) c.2463C>G (p.Phe821Leu) c.2187C>G (p.Phe729Leu) c.2451C>G (p.Phe817Leu) c.2649C>G (p.Phe883Leu) c.3054C>G (p.Phe1018Leu) | |
| 15 | g.22903741G= | CA2163977952 | CYFIP1 | c.2547C= (p.Phe849=) c.2553C= (p.Phe851=) c.1260C= (p.Phe420=) n.1700C= c.2952C= (p.Phe984=) c.2655C= (p.Phe885=) c.873C= (p.Phe291=) c.2463C= (p.Phe821=) c.2187C= (p.Phe729=) c.2451C= (p.Phe817=) c.2649C= (p.Phe883=) c.3054C= (p.Phe1018=) | |
| 15 | g.22903741G>T | CA391334253 | CYFIP1 | c.2547C>A (p.Phe849Leu) c.2553C>A (p.Phe851Leu) c.1260C>A (p.Phe420Leu) n.1700C>A c.2952C>A (p.Phe984Leu) c.2655C>A (p.Phe885Leu) c.873C>A (p.Phe291Leu) c.2463C>A (p.Phe821Leu) c.2187C>A (p.Phe729Leu) c.2451C>A (p.Phe817Leu) c.2649C>A (p.Phe883Leu) c.3054C>A (p.Phe1018Leu) | |
| 15 | g.22903742A>C | CA391334255 | CYFIP1 | c.2546T>G (p.Phe849Cys) c.2552T>G (p.Phe851Cys) c.1259T>G (p.Phe420Cys) n.1699T>G c.2951T>G (p.Phe984Cys) c.2654T>G (p.Phe885Cys) c.872T>G (p.Phe291Cys) c.2462T>G (p.Phe821Cys) c.2186T>G (p.Phe729Cys) c.2450T>G (p.Phe817Cys) c.2648T>G (p.Phe883Cys) c.3053T>G (p.Phe1018Cys) | |
| 15 | g.22903742A>G | CA391334257 | CYFIP1 | c.2546T>C (p.Phe849Ser) c.2552T>C (p.Phe851Ser) c.1259T>C (p.Phe420Ser) n.1699T>C c.2951T>C (p.Phe984Ser) c.2654T>C (p.Phe885Ser) c.872T>C (p.Phe291Ser) c.2462T>C (p.Phe821Ser) c.2186T>C (p.Phe729Ser) c.2450T>C (p.Phe817Ser) c.2648T>C (p.Phe883Ser) c.3053T>C (p.Phe1018Ser) | |
| 15 | g.22903742A>T | CA391334258 | CYFIP1 | c.2546T>A (p.Phe849Tyr) c.2552T>A (p.Phe851Tyr) c.1259T>A (p.Phe420Tyr) n.1699T>A c.2951T>A (p.Phe984Tyr) c.2654T>A (p.Phe885Tyr) c.872T>A (p.Phe291Tyr) c.2462T>A (p.Phe821Tyr) c.2186T>A (p.Phe729Tyr) c.2450T>A (p.Phe817Tyr) c.2648T>A (p.Phe883Tyr) c.3053T>A (p.Phe1018Tyr) | |
| 15 | g.22903743A>C | CA391334260 | CYFIP1 | c.2545T>G (p.Phe849Val) c.2551T>G (p.Phe851Val) c.1258T>G (p.Phe420Val) n.1698T>G c.2950T>G (p.Phe984Val) c.2653T>G (p.Phe885Val) c.871T>G (p.Phe291Val) c.2461T>G (p.Phe821Val) c.2185T>G (p.Phe729Val) c.2449T>G (p.Phe817Val) c.2647T>G (p.Phe883Val) c.3052T>G (p.Phe1018Val) | |
| 15 | g.22903743A>G | CA391334264 | CYFIP1 | c.2545T>C (p.Phe849Leu) c.2551T>C (p.Phe851Leu) c.1258T>C (p.Phe420Leu) n.1698T>C c.2950T>C (p.Phe984Leu) c.2653T>C (p.Phe885Leu) c.871T>C (p.Phe291Leu) c.2461T>C (p.Phe821Leu) c.2185T>C (p.Phe729Leu) c.2449T>C (p.Phe817Leu) c.2647T>C (p.Phe883Leu) c.3052T>C (p.Phe1018Leu) | |
| 15 | g.22903743A>T | CA391334262 | CYFIP1 | c.2545T>A (p.Phe849Ile) c.2551T>A (p.Phe851Ile) c.1258T>A (p.Phe420Ile) n.1698T>A c.2950T>A (p.Phe984Ile) c.2653T>A (p.Phe885Ile) c.871T>A (p.Phe291Ile) c.2461T>A (p.Phe821Ile) c.2185T>A (p.Phe729Ile) c.2449T>A (p.Phe817Ile) c.2647T>A (p.Phe883Ile) c.3052T>A (p.Phe1018Ile) | |
| 15 | g.22903744G>A | CA488526436 | CYFIP1 | c.2544C>T (p.Asp848=) c.2550C>T (p.Asp850=) c.1257C>T (p.Asp419=) n.1697C>T c.2949C>T (p.Asp983=) c.2652C>T (p.Asp884=) c.870C>T (p.Asp290=) c.2460C>T (p.Asp820=) c.2184C>T (p.Asp728=) c.2448C>T (p.Asp816=) c.2646C>T (p.Asp882=) c.3051C>T (p.Asp1017=) | |
| 15 | g.22903744G>C | CA391334266 | CYFIP1 | c.2544C>G (p.Asp848Glu) c.2550C>G (p.Asp850Glu) c.1257C>G (p.Asp419Glu) n.1697C>G c.2949C>G (p.Asp983Glu) c.2652C>G (p.Asp884Glu) c.870C>G (p.Asp290Glu) c.2460C>G (p.Asp820Glu) c.2184C>G (p.Asp728Glu) c.2448C>G (p.Asp816Glu) c.2646C>G (p.Asp882Glu) c.3051C>G (p.Asp1017Glu) | |
| 15 | g.22903744G>T | CA391334267 | CYFIP1 | c.2544C>A (p.Asp848Glu) c.2550C>A (p.Asp850Glu) c.1257C>A (p.Asp419Glu) n.1697C>A c.2949C>A (p.Asp983Glu) c.2652C>A (p.Asp884Glu) c.870C>A (p.Asp290Glu) c.2460C>A (p.Asp820Glu) c.2184C>A (p.Asp728Glu) c.2448C>A (p.Asp816Glu) c.2646C>A (p.Asp882Glu) c.3051C>A (p.Asp1017Glu) | |
| 15 | g.22903745T>A | CA391334270 | CYFIP1 | c.2543A>T (p.Asp848Val) c.2549A>T (p.Asp850Val) c.1256A>T (p.Asp419Val) n.1696A>T c.2948A>T (p.Asp983Val) c.2651A>T (p.Asp884Val) c.869A>T (p.Asp290Val) c.2459A>T (p.Asp820Val) c.2183A>T (p.Asp728Val) c.2447A>T (p.Asp816Val) c.2645A>T (p.Asp882Val) c.3050A>T (p.Asp1017Val) | |
| 15 | g.22903745T>C | CA391334271 | CYFIP1 | c.2543A>G (p.Asp848Gly) c.2549A>G (p.Asp850Gly) c.1256A>G (p.Asp419Gly) n.1696A>G c.2948A>G (p.Asp983Gly) c.2651A>G (p.Asp884Gly) c.869A>G (p.Asp290Gly) c.2459A>G (p.Asp820Gly) c.2183A>G (p.Asp728Gly) c.2447A>G (p.Asp816Gly) c.2645A>G (p.Asp882Gly) c.3050A>G (p.Asp1017Gly) | |
| 15 | g.22903745T>G | CA391334273 | CYFIP1 | c.2543A>C (p.Asp848Ala) c.2549A>C (p.Asp850Ala) c.1256A>C (p.Asp419Ala) n.1696A>C c.2948A>C (p.Asp983Ala) c.2651A>C (p.Asp884Ala) c.869A>C (p.Asp290Ala) c.2459A>C (p.Asp820Ala) c.2183A>C (p.Asp728Ala) c.2447A>C (p.Asp816Ala) c.2645A>C (p.Asp882Ala) c.3050A>C (p.Asp1017Ala) | |
| 15 | g.22903746C>A | CA391334275 | CYFIP1 | c.2542G>T (p.Asp848Tyr) c.2548G>T (p.Asp850Tyr) c.1255G>T (p.Asp419Tyr) n.1695G>T c.2947G>T (p.Asp983Tyr) c.2650G>T (p.Asp884Tyr) c.868G>T (p.Asp290Tyr) c.2458G>T (p.Asp820Tyr) c.2182G>T (p.Asp728Tyr) c.2446G>T (p.Asp816Tyr) c.2644G>T (p.Asp882Tyr) c.3049G>T (p.Asp1017Tyr) | |
| 15 | g.22903746C>G | CA391334277 | CYFIP1 | c.2542G>C (p.Asp848His) c.2548G>C (p.Asp850His) c.1255G>C (p.Asp419His) n.1695G>C c.2947G>C (p.Asp983His) c.2650G>C (p.Asp884His) c.868G>C (p.Asp290His) c.2458G>C (p.Asp820His) c.2182G>C (p.Asp728His) c.2446G>C (p.Asp816His) c.2644G>C (p.Asp882His) c.3049G>C (p.Asp1017His) | |
| 15 | g.22903746C>T | CA391334278 | CYFIP1 | c.2542G>A (p.Asp848Asn) c.2548G>A (p.Asp850Asn) c.1255G>A (p.Asp419Asn) n.1695G>A c.2947G>A (p.Asp983Asn) c.2650G>A (p.Asp884Asn) c.868G>A (p.Asp290Asn) c.2458G>A (p.Asp820Asn) c.2182G>A (p.Asp728Asn) c.2446G>A (p.Asp816Asn) c.2644G>A (p.Asp882Asn) c.3049G>A (p.Asp1017Asn) | |
| 15 | g.22903747A>C | CA391334281 | CYFIP1 | c.2541T>G (p.Tyr847Ter) c.2547T>G (p.Tyr849Ter) c.1254T>G (p.Tyr418Ter) n.1694T>G c.2946T>G (p.Tyr982Ter) c.2649T>G (p.Tyr883Ter) c.867T>G (p.Tyr289Ter) c.2457T>G (p.Tyr819Ter) c.2181T>G (p.Tyr727Ter) c.2445T>G (p.Tyr815Ter) c.2643T>G (p.Tyr881Ter) c.3048T>G (p.Tyr1016Ter) | |
| 15 | g.22903747A>G | CA488526437 | CYFIP1 | c.2541T>C (p.Tyr847=) c.2547T>C (p.Tyr849=) c.1254T>C (p.Tyr418=) n.1694T>C c.2946T>C (p.Tyr982=) c.2649T>C (p.Tyr883=) c.867T>C (p.Tyr289=) c.2457T>C (p.Tyr819=) c.2181T>C (p.Tyr727=) c.2445T>C (p.Tyr815=) c.2643T>C (p.Tyr881=) c.3048T>C (p.Tyr1016=) | |
| 15 | g.22903747A>T | CA391334282 | CYFIP1 | c.2541T>A (p.Tyr847Ter) c.2547T>A (p.Tyr849Ter) c.1254T>A (p.Tyr418Ter) n.1694T>A c.2946T>A (p.Tyr982Ter) c.2649T>A (p.Tyr883Ter) c.867T>A (p.Tyr289Ter) c.2457T>A (p.Tyr819Ter) c.2181T>A (p.Tyr727Ter) c.2445T>A (p.Tyr815Ter) c.2643T>A (p.Tyr881Ter) c.3048T>A (p.Tyr1016Ter) | |
| 15 | g.22903748T>A | CA391334284 | CYFIP1 | c.2540A>T (p.Tyr847Phe) c.2546A>T (p.Tyr849Phe) c.1253A>T (p.Tyr418Phe) n.1693A>T c.2945A>T (p.Tyr982Phe) c.2648A>T (p.Tyr883Phe) c.866A>T (p.Tyr289Phe) c.2456A>T (p.Tyr819Phe) c.2180A>T (p.Tyr727Phe) c.2444A>T (p.Tyr815Phe) c.2642A>T (p.Tyr881Phe) c.3047A>T (p.Tyr1016Phe) | |
| 15 | g.22903748T>C | CA391334285 | CYFIP1 | c.2540A>G (p.Tyr847Cys) c.2546A>G (p.Tyr849Cys) c.1253A>G (p.Tyr418Cys) n.1693A>G c.2945A>G (p.Tyr982Cys) c.2648A>G (p.Tyr883Cys) c.866A>G (p.Tyr289Cys) c.2456A>G (p.Tyr819Cys) c.2180A>G (p.Tyr727Cys) c.2444A>G (p.Tyr815Cys) c.2642A>G (p.Tyr881Cys) c.3047A>G (p.Tyr1016Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.22903748T>G | CA391334288 | CYFIP1 | c.2540A>C (p.Tyr847Ser) c.2546A>C (p.Tyr849Ser) c.1253A>C (p.Tyr418Ser) n.1693A>C c.2945A>C (p.Tyr982Ser) c.2648A>C (p.Tyr883Ser) c.866A>C (p.Tyr289Ser) c.2456A>C (p.Tyr819Ser) c.2180A>C (p.Tyr727Ser) c.2444A>C (p.Tyr815Ser) c.2642A>C (p.Tyr881Ser) c.3047A>C (p.Tyr1016Ser) | |
| 15 | g.22903748T= | CA2163977954 | CYFIP1 | c.2540A= (p.Tyr847=) c.2546A= (p.Tyr849=) c.1253A= (p.Tyr418=) n.1693A= c.2945A= (p.Tyr982=) c.2648A= (p.Tyr883=) c.866A= (p.Tyr289=) c.2456A= (p.Tyr819=) c.2180A= (p.Tyr727=) c.2444A= (p.Tyr815=) c.2642A= (p.Tyr881=) c.3047A= (p.Tyr1016=) | |
| 15 | g.22903749A>C | CA391334294 | CYFIP1 | c.2539T>G (p.Tyr847Asp) c.2545T>G (p.Tyr849Asp) c.1252T>G (p.Tyr418Asp) n.1692T>G c.2944T>G (p.Tyr982Asp) c.2647T>G (p.Tyr883Asp) c.865T>G (p.Tyr289Asp) c.2455T>G (p.Tyr819Asp) c.2179T>G (p.Tyr727Asp) c.2443T>G (p.Tyr815Asp) c.2641T>G (p.Tyr881Asp) c.3046T>G (p.Tyr1016Asp) | |
| 15 | g.22903749A>G | CA391334290 | CYFIP1 | c.2539T>C (p.Tyr847His) c.2545T>C (p.Tyr849His) c.1252T>C (p.Tyr418His) n.1692T>C c.2944T>C (p.Tyr982His) c.2647T>C (p.Tyr883His) c.865T>C (p.Tyr289His) c.2455T>C (p.Tyr819His) c.2179T>C (p.Tyr727His) c.2443T>C (p.Tyr815His) c.2641T>C (p.Tyr881His) c.3046T>C (p.Tyr1016His) | |
| 15 | g.22903749A>T | CA391334291 | CYFIP1 | c.2539T>A (p.Tyr847Asn) c.2545T>A (p.Tyr849Asn) c.1252T>A (p.Tyr418Asn) n.1692T>A c.2944T>A (p.Tyr982Asn) c.2647T>A (p.Tyr883Asn) c.865T>A (p.Tyr289Asn) c.2455T>A (p.Tyr819Asn) c.2179T>A (p.Tyr727Asn) c.2443T>A (p.Tyr815Asn) c.2641T>A (p.Tyr881Asn) c.3046T>A (p.Tyr1016Asn) | |
| 15 | g.22903750G>A | CA488526438 | CYFIP1 | c.2538C>T (p.Asn846=) c.2544C>T (p.Asn848=) c.1251C>T (p.Asn417=) n.1691C>T c.2943C>T (p.Asn981=) c.2646C>T (p.Asn882=) c.864C>T (p.Asn288=) c.2454C>T (p.Asn818=) c.2178C>T (p.Asn726=) c.2442C>T (p.Asn814=) c.2640C>T (p.Asn880=) c.3045C>T (p.Asn1015=) | |
| 15 | g.22903750G>C | CA391334296 | CYFIP1 | c.2538C>G (p.Asn846Lys) c.2544C>G (p.Asn848Lys) c.1251C>G (p.Asn417Lys) n.1691C>G c.2943C>G (p.Asn981Lys) c.2646C>G (p.Asn882Lys) c.864C>G (p.Asn288Lys) c.2454C>G (p.Asn818Lys) c.2178C>G (p.Asn726Lys) c.2442C>G (p.Asn814Lys) c.2640C>G (p.Asn880Lys) c.3045C>G (p.Asn1015Lys) | |
| 15 | g.22903750G>T | CA391334297 | CYFIP1 | c.2538C>A (p.Asn846Lys) c.2544C>A (p.Asn848Lys) c.1251C>A (p.Asn417Lys) n.1691C>A c.2943C>A (p.Asn981Lys) c.2646C>A (p.Asn882Lys) c.864C>A (p.Asn288Lys) c.2454C>A (p.Asn818Lys) c.2178C>A (p.Asn726Lys) c.2442C>A (p.Asn814Lys) c.2640C>A (p.Asn880Lys) c.3045C>A (p.Asn1015Lys) | |
| 15 | g.22903751T>A | CA391334299 | CYFIP1 | c.2537A>T (p.Asn846Ile) c.2543A>T (p.Asn848Ile) c.1250A>T (p.Asn417Ile) n.1690A>T c.2942A>T (p.Asn981Ile) c.2645A>T (p.Asn882Ile) c.863A>T (p.Asn288Ile) c.2453A>T (p.Asn818Ile) c.2177A>T (p.Asn726Ile) c.2441A>T (p.Asn814Ile) c.2639A>T (p.Asn880Ile) c.3044A>T (p.Asn1015Ile) | |
| 15 | g.22903751T>C | CA391334300 | CYFIP1 | c.2537A>G (p.Asn846Ser) c.2543A>G (p.Asn848Ser) c.1250A>G (p.Asn417Ser) n.1690A>G c.2942A>G (p.Asn981Ser) c.2645A>G (p.Asn882Ser) c.863A>G (p.Asn288Ser) c.2453A>G (p.Asn818Ser) c.2177A>G (p.Asn726Ser) c.2441A>G (p.Asn814Ser) c.2639A>G (p.Asn880Ser) c.3044A>G (p.Asn1015Ser) | gnomAD v4 |