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 |
|---|---|---|---|---|---|
| 10 | g.60145966_60145969del | CA2609282434 | ANK3 | c.2576-6878_2576-6875del (n.2576-6878_2576-6875del) c.2617+3_2617+6del c.2615-6878_2615-6875del (n.2615-6878_2615-6875del) c.2597-6878_2597-6875del (n.2597-6878_2597-6875del) c.106+3_106+6del c.190+3_190+6del c.*1184-6878_*1184-6875del (n.*1184-6878_*1184-6875del) c.2668+3_2668+6del c.2656+3_2656+6del c.2650+3_2650+6del c.2611+3_2611+6del c.2590+3_2590+6del c.2569+3_2569+6del c.2557+3_2557+6del c.2552-6878_2552-6875del (n.2552-6878_2552-6875del) c.2605+3_2605+6del c.2564-6878_2564-6875del (n.2564-6878_2564-6875del) | gnomAD v4 |
| 10 | g.60145969T>A | CA376980377 | ANK3 | c.2576-6882A>T (n.2576-6882A>T) c.2616A>T (p.Lys872Asn) c.2615-6882A>T (n.2615-6882A>T) c.2597-6882A>T (n.2597-6882A>T) c.105A>T (p.Lys35Asn) c.189A>T (p.Lys63Asn) c.*1184-6882A>T (n.*1184-6882A>T) c.2667A>T (p.Lys889Asn) c.2655A>T (p.Lys885Asn) c.2649A>T (p.Lys883Asn) c.2610A>T (p.Lys870Asn) c.2589A>T (p.Lys863Asn) c.2568A>T (p.Lys856Asn) c.2556A>T (p.Lys852Asn) c.2552-6882A>T (n.2552-6882A>T) c.2604A>T (p.Lys868Asn) c.2564-6882A>T (n.2564-6882A>T) | |
| 10 | g.60145969T>C | CA5512746 | ANK3 | c.2576-6882A>G (n.2576-6882A>G) c.2616A>G (p.Lys872=) c.2615-6882A>G (n.2615-6882A>G) c.2597-6882A>G (n.2597-6882A>G) c.105A>G (p.Lys35=) c.189A>G (p.Lys63=) c.*1184-6882A>G (n.*1184-6882A>G) c.2667A>G (p.Lys889=) c.2655A>G (p.Lys885=) c.2649A>G (p.Lys883=) c.2610A>G (p.Lys870=) c.2589A>G (p.Lys863=) c.2568A>G (p.Lys856=) c.2556A>G (p.Lys852=) c.2552-6882A>G (n.2552-6882A>G) c.2604A>G (p.Lys868=) c.2564-6882A>G (n.2564-6882A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145969T>G | CA376980376 | ANK3 | c.2576-6882A>C (n.2576-6882A>C) c.2616A>C (p.Lys872Asn) c.2615-6882A>C (n.2615-6882A>C) c.2597-6882A>C (n.2597-6882A>C) c.105A>C (p.Lys35Asn) c.189A>C (p.Lys63Asn) c.*1184-6882A>C (n.*1184-6882A>C) c.2667A>C (p.Lys889Asn) c.2655A>C (p.Lys885Asn) c.2649A>C (p.Lys883Asn) c.2610A>C (p.Lys870Asn) c.2589A>C (p.Lys863Asn) c.2568A>C (p.Lys856Asn) c.2556A>C (p.Lys852Asn) c.2552-6882A>C (n.2552-6882A>C) c.2604A>C (p.Lys868Asn) c.2564-6882A>C (n.2564-6882A>C) | |
| 10 | g.60145969T= | CA1913778373 | ANK3 | c.2576-6882A= (n.2576-6882A=) c.2616A= (p.Lys872=) c.2615-6882A= (n.2615-6882A=) c.2597-6882A= (n.2597-6882A=) c.105A= (p.Lys35=) c.189A= (p.Lys63=) c.*1184-6882A= (n.*1184-6882A=) c.2667A= (p.Lys889=) c.2655A= (p.Lys885=) c.2649A= (p.Lys883=) c.2610A= (p.Lys870=) c.2589A= (p.Lys863=) c.2568A= (p.Lys856=) c.2556A= (p.Lys852=) c.2552-6882A= (n.2552-6882A=) c.2604A= (p.Lys868=) c.2564-6882A= (n.2564-6882A=) | |
| 10 | g.60145970T>A | CA376980378 | ANK3 | c.2576-6883A>T (n.2576-6883A>T) c.2615A>T (p.Lys872Ile) c.2615-6883A>T (n.2615-6883A>T) c.2597-6883A>T (n.2597-6883A>T) c.104A>T (p.Lys35Ile) c.188A>T (p.Lys63Ile) c.*1184-6883A>T (n.*1184-6883A>T) c.2666A>T (p.Lys889Ile) c.2654A>T (p.Lys885Ile) c.2648A>T (p.Lys883Ile) c.2609A>T (p.Lys870Ile) c.2588A>T (p.Lys863Ile) c.2567A>T (p.Lys856Ile) c.2555A>T (p.Lys852Ile) c.2552-6883A>T (n.2552-6883A>T) c.2603A>T (p.Lys868Ile) c.2564-6883A>T (n.2564-6883A>T) | |
| 10 | g.60145970T>C | CA376980379 | ANK3 | c.2576-6883A>G (n.2576-6883A>G) c.2615A>G (p.Lys872Arg) c.2615-6883A>G (n.2615-6883A>G) c.2597-6883A>G (n.2597-6883A>G) c.104A>G (p.Lys35Arg) c.188A>G (p.Lys63Arg) c.*1184-6883A>G (n.*1184-6883A>G) c.2666A>G (p.Lys889Arg) c.2654A>G (p.Lys885Arg) c.2648A>G (p.Lys883Arg) c.2609A>G (p.Lys870Arg) c.2588A>G (p.Lys863Arg) c.2567A>G (p.Lys856Arg) c.2555A>G (p.Lys852Arg) c.2552-6883A>G (n.2552-6883A>G) c.2603A>G (p.Lys868Arg) c.2564-6883A>G (n.2564-6883A>G) | |
| 10 | g.60145970T>G | CA376980380 | ANK3 | c.2576-6883A>C (n.2576-6883A>C) c.2615A>C (p.Lys872Thr) c.2615-6883A>C (n.2615-6883A>C) c.2597-6883A>C (n.2597-6883A>C) c.104A>C (p.Lys35Thr) c.188A>C (p.Lys63Thr) c.*1184-6883A>C (n.*1184-6883A>C) c.2666A>C (p.Lys889Thr) c.2654A>C (p.Lys885Thr) c.2648A>C (p.Lys883Thr) c.2609A>C (p.Lys870Thr) c.2588A>C (p.Lys863Thr) c.2567A>C (p.Lys856Thr) c.2555A>C (p.Lys852Thr) c.2552-6883A>C (n.2552-6883A>C) c.2603A>C (p.Lys868Thr) c.2564-6883A>C (n.2564-6883A>C) | |
| 10 | g.60145971T>A | CA208274427 | ANK3 | c.2576-6884A>T (n.2576-6884A>T) c.2614A>T (p.Lys872Ter) c.2615-6884A>T (n.2615-6884A>T) c.2597-6884A>T (n.2597-6884A>T) c.103A>T (p.Lys35Ter) c.187A>T (p.Lys63Ter) c.*1184-6884A>T (n.*1184-6884A>T) c.2665A>T (p.Lys889Ter) c.2653A>T (p.Lys885Ter) c.2647A>T (p.Lys883Ter) c.2608A>T (p.Lys870Ter) c.2587A>T (p.Lys863Ter) c.2566A>T (p.Lys856Ter) c.2554A>T (p.Lys852Ter) c.2552-6884A>T (n.2552-6884A>T) c.2602A>T (p.Lys868Ter) c.2564-6884A>T (n.2564-6884A>T) | dbSNP |
| 10 | g.60145971T>C | CA376980381 | ANK3 | c.2576-6884A>G (n.2576-6884A>G) c.2614A>G (p.Lys872Glu) c.2615-6884A>G (n.2615-6884A>G) c.2597-6884A>G (n.2597-6884A>G) c.103A>G (p.Lys35Glu) c.187A>G (p.Lys63Glu) c.*1184-6884A>G (n.*1184-6884A>G) c.2665A>G (p.Lys889Glu) c.2653A>G (p.Lys885Glu) c.2647A>G (p.Lys883Glu) c.2608A>G (p.Lys870Glu) c.2587A>G (p.Lys863Glu) c.2566A>G (p.Lys856Glu) c.2554A>G (p.Lys852Glu) c.2552-6884A>G (n.2552-6884A>G) c.2602A>G (p.Lys868Glu) c.2564-6884A>G (n.2564-6884A>G) | |
| 10 | g.60145971T>G | CA376980382 | ANK3 | c.2576-6884A>C (n.2576-6884A>C) c.2614A>C (p.Lys872Gln) c.2615-6884A>C (n.2615-6884A>C) c.2597-6884A>C (n.2597-6884A>C) c.103A>C (p.Lys35Gln) c.187A>C (p.Lys63Gln) c.*1184-6884A>C (n.*1184-6884A>C) c.2665A>C (p.Lys889Gln) c.2653A>C (p.Lys885Gln) c.2647A>C (p.Lys883Gln) c.2608A>C (p.Lys870Gln) c.2587A>C (p.Lys863Gln) c.2566A>C (p.Lys856Gln) c.2554A>C (p.Lys852Gln) c.2552-6884A>C (n.2552-6884A>C) c.2602A>C (p.Lys868Gln) c.2564-6884A>C (n.2564-6884A>C) | |
| 10 | g.60145971T= | CA1913778380 | ANK3 | c.2576-6884A= (n.2576-6884A=) c.2614A= (p.Lys872=) c.2615-6884A= (n.2615-6884A=) c.2597-6884A= (n.2597-6884A=) c.103A= (p.Lys35=) c.187A= (p.Lys63=) c.*1184-6884A= (n.*1184-6884A=) c.2665A= (p.Lys889=) c.2653A= (p.Lys885=) c.2647A= (p.Lys883=) c.2608A= (p.Lys870=) c.2587A= (p.Lys863=) c.2566A= (p.Lys856=) c.2554A= (p.Lys852=) c.2552-6884A= (n.2552-6884A=) c.2602A= (p.Lys868=) c.2564-6884A= (n.2564-6884A=) | |
| 10 | g.60145972C>A | CA2609282456 | ANK3 | c.2576-6885G>T (n.2576-6885G>T) c.2613G>T (p.Val871=) c.2615-6885G>T (n.2615-6885G>T) c.2597-6885G>T (n.2597-6885G>T) c.102G>T (p.Val34=) c.186G>T (p.Val62=) c.*1184-6885G>T (n.*1184-6885G>T) c.2664G>T (p.Val888=) c.2652G>T (p.Val884=) c.2646G>T (p.Val882=) c.2607G>T (p.Val869=) c.2586G>T (p.Val862=) c.2565G>T (p.Val855=) c.2553G>T (p.Val851=) c.2552-6885G>T (n.2552-6885G>T) c.2601G>T (p.Val867=) c.2564-6885G>T (n.2564-6885G>T) | gnomAD v4 |
| 10 | g.60145973A>C | CA376980383 | ANK3 | c.2576-6886T>G (n.2576-6886T>G) c.2612T>G (p.Val871Gly) c.2615-6886T>G (n.2615-6886T>G) c.2597-6886T>G (n.2597-6886T>G) c.101T>G (p.Val34Gly) c.185T>G (p.Val62Gly) c.*1184-6886T>G (n.*1184-6886T>G) c.2663T>G (p.Val888Gly) c.2651T>G (p.Val884Gly) c.2645T>G (p.Val882Gly) c.2606T>G (p.Val869Gly) c.2585T>G (p.Val862Gly) c.2564T>G (p.Val855Gly) c.2552T>G (p.Val851Gly) c.2552-6886T>G (n.2552-6886T>G) c.2600T>G (p.Val867Gly) c.2564-6886T>G (n.2564-6886T>G) | |
| 10 | g.60145973A>G | CA376980384 | ANK3 | c.2576-6886T>C (n.2576-6886T>C) c.2612T>C (p.Val871Ala) c.2615-6886T>C (n.2615-6886T>C) c.2597-6886T>C (n.2597-6886T>C) c.101T>C (p.Val34Ala) c.185T>C (p.Val62Ala) c.*1184-6886T>C (n.*1184-6886T>C) c.2663T>C (p.Val888Ala) c.2651T>C (p.Val884Ala) c.2645T>C (p.Val882Ala) c.2606T>C (p.Val869Ala) c.2585T>C (p.Val862Ala) c.2564T>C (p.Val855Ala) c.2552T>C (p.Val851Ala) c.2552-6886T>C (n.2552-6886T>C) c.2600T>C (p.Val867Ala) c.2564-6886T>C (n.2564-6886T>C) | gnomAD v4 |
| 10 | g.60145973A>T | CA376980385 | ANK3 | c.2576-6886T>A (n.2576-6886T>A) c.2612T>A (p.Val871Glu) c.2615-6886T>A (n.2615-6886T>A) c.2597-6886T>A (n.2597-6886T>A) c.101T>A (p.Val34Glu) c.185T>A (p.Val62Glu) c.*1184-6886T>A (n.*1184-6886T>A) c.2663T>A (p.Val888Glu) c.2651T>A (p.Val884Glu) c.2645T>A (p.Val882Glu) c.2606T>A (p.Val869Glu) c.2585T>A (p.Val862Glu) c.2564T>A (p.Val855Glu) c.2552T>A (p.Val851Glu) c.2552-6886T>A (n.2552-6886T>A) c.2600T>A (p.Val867Glu) c.2564-6886T>A (n.2564-6886T>A) | |
| 10 | g.60145974C>A | CA376980386 | ANK3 | c.2576-6887G>T (n.2576-6887G>T) c.2611G>T (p.Val871Leu) c.2615-6887G>T (n.2615-6887G>T) c.2597-6887G>T (n.2597-6887G>T) c.100G>T (p.Val34Leu) c.184G>T (p.Val62Leu) c.*1184-6887G>T (n.*1184-6887G>T) c.2662G>T (p.Val888Leu) c.2650G>T (p.Val884Leu) c.2644G>T (p.Val882Leu) c.2605G>T (p.Val869Leu) c.2584G>T (p.Val862Leu) c.2563G>T (p.Val855Leu) c.2551G>T (p.Val851Leu) c.2552-6887G>T (n.2552-6887G>T) c.2599G>T (p.Val867Leu) c.2564-6887G>T (n.2564-6887G>T) | |
| 10 | g.60145974C= | CA1913778384 | ANK3 | c.2576-6887G= (n.2576-6887G=) c.2611G= (p.Val871=) c.2615-6887G= (n.2615-6887G=) c.2597-6887G= (n.2597-6887G=) c.100G= (p.Val34=) c.184G= (p.Val62=) c.*1184-6887G= (n.*1184-6887G=) c.2662G= (p.Val888=) c.2650G= (p.Val884=) c.2644G= (p.Val882=) c.2605G= (p.Val869=) c.2584G= (p.Val862=) c.2563G= (p.Val855=) c.2551G= (p.Val851=) c.2552-6887G= (n.2552-6887G=) c.2599G= (p.Val867=) c.2564-6887G= (n.2564-6887G=) | |
| 10 | g.60145974C>G | CA376980387 | ANK3 | c.2576-6887G>C (n.2576-6887G>C) c.2611G>C (p.Val871Leu) c.2615-6887G>C (n.2615-6887G>C) c.2597-6887G>C (n.2597-6887G>C) c.100G>C (p.Val34Leu) c.184G>C (p.Val62Leu) c.*1184-6887G>C (n.*1184-6887G>C) c.2662G>C (p.Val888Leu) c.2650G>C (p.Val884Leu) c.2644G>C (p.Val882Leu) c.2605G>C (p.Val869Leu) c.2584G>C (p.Val862Leu) c.2563G>C (p.Val855Leu) c.2551G>C (p.Val851Leu) c.2552-6887G>C (n.2552-6887G>C) c.2599G>C (p.Val867Leu) c.2564-6887G>C (n.2564-6887G>C) | |
| 10 | g.60145974C>T | CA376980388 | ANK3 | c.2576-6887G>A (n.2576-6887G>A) c.2611G>A (p.Val871Met) c.2615-6887G>A (n.2615-6887G>A) c.2597-6887G>A (n.2597-6887G>A) c.100G>A (p.Val34Met) c.184G>A (p.Val62Met) c.*1184-6887G>A (n.*1184-6887G>A) c.2662G>A (p.Val888Met) c.2650G>A (p.Val884Met) c.2644G>A (p.Val882Met) c.2605G>A (p.Val869Met) c.2584G>A (p.Val862Met) c.2563G>A (p.Val855Met) c.2551G>A (p.Val851Met) c.2552-6887G>A (n.2552-6887G>A) c.2599G>A (p.Val867Met) c.2564-6887G>A (n.2564-6887G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.60145975C= | CA1913778387 | ANK3 | c.2576-6888G= (n.2576-6888G=) c.2610G= (p.Thr870=) c.2615-6888G= (n.2615-6888G=) c.2597-6888G= (n.2597-6888G=) c.99G= (p.Thr33=) c.183G= (p.Thr61=) c.*1184-6888G= (n.*1184-6888G=) c.2661G= (p.Thr887=) c.2649G= (p.Thr883=) c.2643G= (p.Thr881=) c.2604G= (p.Thr868=) c.2583G= (p.Thr861=) c.2562G= (p.Thr854=) c.2550G= (p.Thr850=) c.2552-6888G= (n.2552-6888G=) c.2598G= (p.Thr866=) c.2564-6888G= (n.2564-6888G=) | |
| 10 | g.60145975C>T | CA208274430 | ANK3 | c.2576-6888G>A (n.2576-6888G>A) c.2610G>A (p.Thr870=) c.2615-6888G>A (n.2615-6888G>A) c.2597-6888G>A (n.2597-6888G>A) c.99G>A (p.Thr33=) c.183G>A (p.Thr61=) c.*1184-6888G>A (n.*1184-6888G>A) c.2661G>A (p.Thr887=) c.2649G>A (p.Thr883=) c.2643G>A (p.Thr881=) c.2604G>A (p.Thr868=) c.2583G>A (p.Thr861=) c.2562G>A (p.Thr854=) c.2550G>A (p.Thr850=) c.2552-6888G>A (n.2552-6888G>A) c.2598G>A (p.Thr866=) c.2564-6888G>A (n.2564-6888G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145976G>A | CA5512747 | ANK3 | c.2576-6889C>T (n.2576-6889C>T) c.2609C>T (p.Thr870Met) c.2615-6889C>T (n.2615-6889C>T) c.2597-6889C>T (n.2597-6889C>T) c.98C>T (p.Thr33Met) c.182C>T (p.Thr61Met) c.*1184-6889C>T (n.*1184-6889C>T) c.2660C>T (p.Thr887Met) c.2648C>T (p.Thr883Met) c.2642C>T (p.Thr881Met) c.2603C>T (p.Thr868Met) c.2582C>T (p.Thr861Met) c.2561C>T (p.Thr854Met) c.2549C>T (p.Thr850Met) c.2552-6889C>T (n.2552-6889C>T) c.2597C>T (p.Thr866Met) c.2564-6889C>T (n.2564-6889C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145976G>C | CA376980389 | ANK3 | c.2576-6889C>G (n.2576-6889C>G) c.2609C>G (p.Thr870Arg) c.2615-6889C>G (n.2615-6889C>G) c.2597-6889C>G (n.2597-6889C>G) c.98C>G (p.Thr33Arg) c.182C>G (p.Thr61Arg) c.*1184-6889C>G (n.*1184-6889C>G) c.2660C>G (p.Thr887Arg) c.2648C>G (p.Thr883Arg) c.2642C>G (p.Thr881Arg) c.2603C>G (p.Thr868Arg) c.2582C>G (p.Thr861Arg) c.2561C>G (p.Thr854Arg) c.2549C>G (p.Thr850Arg) c.2552-6889C>G (n.2552-6889C>G) c.2597C>G (p.Thr866Arg) c.2564-6889C>G (n.2564-6889C>G) | |
| 10 | g.60145976G= | CA1913778391 | ANK3 | c.2576-6889C= (n.2576-6889C=) c.2609C= (p.Thr870=) c.2615-6889C= (n.2615-6889C=) c.2597-6889C= (n.2597-6889C=) c.98C= (p.Thr33=) c.182C= (p.Thr61=) c.*1184-6889C= (n.*1184-6889C=) c.2660C= (p.Thr887=) c.2648C= (p.Thr883=) c.2642C= (p.Thr881=) c.2603C= (p.Thr868=) c.2582C= (p.Thr861=) c.2561C= (p.Thr854=) c.2549C= (p.Thr850=) c.2552-6889C= (n.2552-6889C=) c.2597C= (p.Thr866=) c.2564-6889C= (n.2564-6889C=) | |
| 10 | g.60145976G>T | CA208274447 | ANK3 | c.2576-6889C>A (n.2576-6889C>A) c.2609C>A (p.Thr870Lys) c.2615-6889C>A (n.2615-6889C>A) c.2597-6889C>A (n.2597-6889C>A) c.98C>A (p.Thr33Lys) c.182C>A (p.Thr61Lys) c.*1184-6889C>A (n.*1184-6889C>A) c.2660C>A (p.Thr887Lys) c.2648C>A (p.Thr883Lys) c.2642C>A (p.Thr881Lys) c.2603C>A (p.Thr868Lys) c.2582C>A (p.Thr861Lys) c.2561C>A (p.Thr854Lys) c.2549C>A (p.Thr850Lys) c.2552-6889C>A (n.2552-6889C>A) c.2597C>A (p.Thr866Lys) c.2564-6889C>A (n.2564-6889C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145977T>A | CA376980390 | ANK3 | c.2576-6890A>T (n.2576-6890A>T) c.2608A>T (p.Thr870Ser) c.2615-6890A>T (n.2615-6890A>T) c.2597-6890A>T (n.2597-6890A>T) c.97A>T (p.Thr33Ser) c.181A>T (p.Thr61Ser) c.*1184-6890A>T (n.*1184-6890A>T) c.2659A>T (p.Thr887Ser) c.2647A>T (p.Thr883Ser) c.2641A>T (p.Thr881Ser) c.2602A>T (p.Thr868Ser) c.2581A>T (p.Thr861Ser) c.2560A>T (p.Thr854Ser) c.2548A>T (p.Thr850Ser) c.2552-6890A>T (n.2552-6890A>T) c.2596A>T (p.Thr866Ser) c.2564-6890A>T (n.2564-6890A>T) | |
| 10 | g.60145977T>C | CA376980392 | ANK3 | c.2576-6890A>G (n.2576-6890A>G) c.2608A>G (p.Thr870Ala) c.2615-6890A>G (n.2615-6890A>G) c.2597-6890A>G (n.2597-6890A>G) c.97A>G (p.Thr33Ala) c.181A>G (p.Thr61Ala) c.*1184-6890A>G (n.*1184-6890A>G) c.2659A>G (p.Thr887Ala) c.2647A>G (p.Thr883Ala) c.2641A>G (p.Thr881Ala) c.2602A>G (p.Thr868Ala) c.2581A>G (p.Thr861Ala) c.2560A>G (p.Thr854Ala) c.2548A>G (p.Thr850Ala) c.2552-6890A>G (n.2552-6890A>G) c.2596A>G (p.Thr866Ala) c.2564-6890A>G (n.2564-6890A>G) | |
| 10 | g.60145977T>G | CA376980391 | ANK3 | c.2576-6890A>C (n.2576-6890A>C) c.2608A>C (p.Thr870Pro) c.2615-6890A>C (n.2615-6890A>C) c.2597-6890A>C (n.2597-6890A>C) c.97A>C (p.Thr33Pro) c.181A>C (p.Thr61Pro) c.*1184-6890A>C (n.*1184-6890A>C) c.2659A>C (p.Thr887Pro) c.2647A>C (p.Thr883Pro) c.2641A>C (p.Thr881Pro) c.2602A>C (p.Thr868Pro) c.2581A>C (p.Thr861Pro) c.2560A>C (p.Thr854Pro) c.2548A>C (p.Thr850Pro) c.2552-6890A>C (n.2552-6890A>C) c.2596A>C (p.Thr866Pro) c.2564-6890A>C (n.2564-6890A>C) | |
| 10 | g.60145978A>C | CA376980393 | ANK3 | c.2576-6891T>G (n.2576-6891T>G) c.2607T>G (p.Phe869Leu) c.2615-6891T>G (n.2615-6891T>G) c.2597-6891T>G (n.2597-6891T>G) c.96T>G (p.Phe32Leu) c.180T>G (p.Phe60Leu) c.*1184-6891T>G (n.*1184-6891T>G) c.2658T>G (p.Phe886Leu) c.2646T>G (p.Phe882Leu) c.2640T>G (p.Phe880Leu) c.2601T>G (p.Phe867Leu) c.2580T>G (p.Phe860Leu) c.2559T>G (p.Phe853Leu) c.2547T>G (p.Phe849Leu) c.2552-6891T>G (n.2552-6891T>G) c.2595T>G (p.Phe865Leu) c.2564-6891T>G (n.2564-6891T>G) | |
| 10 | g.60145978A>T | CA376980394 | ANK3 | c.2576-6891T>A (n.2576-6891T>A) c.2607T>A (p.Phe869Leu) c.2615-6891T>A (n.2615-6891T>A) c.2597-6891T>A (n.2597-6891T>A) c.96T>A (p.Phe32Leu) c.180T>A (p.Phe60Leu) c.*1184-6891T>A (n.*1184-6891T>A) c.2658T>A (p.Phe886Leu) c.2646T>A (p.Phe882Leu) c.2640T>A (p.Phe880Leu) c.2601T>A (p.Phe867Leu) c.2580T>A (p.Phe860Leu) c.2559T>A (p.Phe853Leu) c.2547T>A (p.Phe849Leu) c.2552-6891T>A (n.2552-6891T>A) c.2595T>A (p.Phe865Leu) c.2564-6891T>A (n.2564-6891T>A) | |
| 10 | g.60145980del | CA2609282468 | ANK3 | c.2576-6891del (n.2576-6891del) c.2607del (p.Phe869LeufsTer3) c.2615-6891del (n.2615-6891del) c.2597-6891del (n.2597-6891del) c.96del (p.Phe32LeufsTer3) c.180del (p.Phe60LeufsTer3) c.*1184-6891del (n.*1184-6891del) c.2658del (p.Phe886LeufsTer3) c.2646del (p.Phe882LeufsTer3) c.2640del (p.Phe880LeufsTer3) c.2601del (p.Phe867LeufsTer3) c.2580del (p.Phe860LeufsTer3) c.2559del (p.Phe853LeufsTer3) c.2547del (p.Phe849LeufsTer3) c.2552-6891del (n.2552-6891del) c.2595del (p.Phe865LeufsTer3) c.2564-6891del (n.2564-6891del) | gnomAD v4 |
| 10 | g.60145979A>C | CA376980395 | ANK3 | c.2576-6892T>G (n.2576-6892T>G) c.2606T>G (p.Phe869Cys) c.2615-6892T>G (n.2615-6892T>G) c.2597-6892T>G (n.2597-6892T>G) c.95T>G (p.Phe32Cys) c.179T>G (p.Phe60Cys) c.*1184-6892T>G (n.*1184-6892T>G) c.2657T>G (p.Phe886Cys) c.2645T>G (p.Phe882Cys) c.2639T>G (p.Phe880Cys) c.2600T>G (p.Phe867Cys) c.2579T>G (p.Phe860Cys) c.2558T>G (p.Phe853Cys) c.2546T>G (p.Phe849Cys) c.2552-6892T>G (n.2552-6892T>G) c.2594T>G (p.Phe865Cys) c.2564-6892T>G (n.2564-6892T>G) | |
| 10 | g.60145979A>G | CA376980396 | ANK3 | c.2576-6892T>C (n.2576-6892T>C) c.2606T>C (p.Phe869Ser) c.2615-6892T>C (n.2615-6892T>C) c.2597-6892T>C (n.2597-6892T>C) c.95T>C (p.Phe32Ser) c.179T>C (p.Phe60Ser) c.*1184-6892T>C (n.*1184-6892T>C) c.2657T>C (p.Phe886Ser) c.2645T>C (p.Phe882Ser) c.2639T>C (p.Phe880Ser) c.2600T>C (p.Phe867Ser) c.2579T>C (p.Phe860Ser) c.2558T>C (p.Phe853Ser) c.2546T>C (p.Phe849Ser) c.2552-6892T>C (n.2552-6892T>C) c.2594T>C (p.Phe865Ser) c.2564-6892T>C (n.2564-6892T>C) | |
| 10 | g.60145979A>T | CA376980397 | ANK3 | c.2576-6892T>A (n.2576-6892T>A) c.2606T>A (p.Phe869Tyr) c.2615-6892T>A (n.2615-6892T>A) c.2597-6892T>A (n.2597-6892T>A) c.95T>A (p.Phe32Tyr) c.179T>A (p.Phe60Tyr) c.*1184-6892T>A (n.*1184-6892T>A) c.2657T>A (p.Phe886Tyr) c.2645T>A (p.Phe882Tyr) c.2639T>A (p.Phe880Tyr) c.2600T>A (p.Phe867Tyr) c.2579T>A (p.Phe860Tyr) c.2558T>A (p.Phe853Tyr) c.2546T>A (p.Phe849Tyr) c.2552-6892T>A (n.2552-6892T>A) c.2594T>A (p.Phe865Tyr) c.2564-6892T>A (n.2564-6892T>A) | |
| 10 | g.60145980A= | CA1913778393 | ANK3 | c.2576-6893T= (n.2576-6893T=) c.2605T= (p.Phe869=) c.2615-6893T= (n.2615-6893T=) c.2597-6893T= (n.2597-6893T=) c.94T= (p.Phe32=) c.178T= (p.Phe60=) c.*1184-6893T= (n.*1184-6893T=) c.2656T= (p.Phe886=) c.2644T= (p.Phe882=) c.2638T= (p.Phe880=) c.2599T= (p.Phe867=) c.2578T= (p.Phe860=) c.2557T= (p.Phe853=) c.2545T= (p.Phe849=) c.2552-6893T= (n.2552-6893T=) c.2593T= (p.Phe865=) c.2564-6893T= (n.2564-6893T=) | |
| 10 | g.60145980A>C | CA376980398 | ANK3 | c.2576-6893T>G (n.2576-6893T>G) c.2605T>G (p.Phe869Val) c.2615-6893T>G (n.2615-6893T>G) c.2597-6893T>G (n.2597-6893T>G) c.94T>G (p.Phe32Val) c.178T>G (p.Phe60Val) c.*1184-6893T>G (n.*1184-6893T>G) c.2656T>G (p.Phe886Val) c.2644T>G (p.Phe882Val) c.2638T>G (p.Phe880Val) c.2599T>G (p.Phe867Val) c.2578T>G (p.Phe860Val) c.2557T>G (p.Phe853Val) c.2545T>G (p.Phe849Val) c.2552-6893T>G (n.2552-6893T>G) c.2593T>G (p.Phe865Val) c.2564-6893T>G (n.2564-6893T>G) | dbSNP gnomAD v4 |
| 10 | g.60145980A>G | CA376980399 | ANK3 | c.2576-6893T>C (n.2576-6893T>C) c.2605T>C (p.Phe869Leu) c.2615-6893T>C (n.2615-6893T>C) c.2597-6893T>C (n.2597-6893T>C) c.94T>C (p.Phe32Leu) c.178T>C (p.Phe60Leu) c.*1184-6893T>C (n.*1184-6893T>C) c.2656T>C (p.Phe886Leu) c.2644T>C (p.Phe882Leu) c.2638T>C (p.Phe880Leu) c.2599T>C (p.Phe867Leu) c.2578T>C (p.Phe860Leu) c.2557T>C (p.Phe853Leu) c.2545T>C (p.Phe849Leu) c.2552-6893T>C (n.2552-6893T>C) c.2593T>C (p.Phe865Leu) c.2564-6893T>C (n.2564-6893T>C) | |
| 10 | g.60145980A>T | CA376980400 | ANK3 | c.2576-6893T>A (n.2576-6893T>A) c.2605T>A (p.Phe869Ile) c.2615-6893T>A (n.2615-6893T>A) c.2597-6893T>A (n.2597-6893T>A) c.94T>A (p.Phe32Ile) c.178T>A (p.Phe60Ile) c.*1184-6893T>A (n.*1184-6893T>A) c.2656T>A (p.Phe886Ile) c.2644T>A (p.Phe882Ile) c.2638T>A (p.Phe880Ile) c.2599T>A (p.Phe867Ile) c.2578T>A (p.Phe860Ile) c.2557T>A (p.Phe853Ile) c.2545T>A (p.Phe849Ile) c.2552-6893T>A (n.2552-6893T>A) c.2593T>A (p.Phe865Ile) c.2564-6893T>A (n.2564-6893T>A) | |
| 10 | g.60145981C>A | CA376980401 | ANK3 | c.2576-6894G>T (n.2576-6894G>T) c.2604G>T (p.Glu868Asp) c.2615-6894G>T (n.2615-6894G>T) c.2597-6894G>T (n.2597-6894G>T) c.93G>T (p.Glu31Asp) c.177G>T (p.Glu59Asp) c.*1184-6894G>T (n.*1184-6894G>T) c.2655G>T (p.Glu885Asp) c.2643G>T (p.Glu881Asp) c.2637G>T (p.Glu879Asp) c.2598G>T (p.Glu866Asp) c.2577G>T (p.Glu859Asp) c.2556G>T (p.Glu852Asp) c.2544G>T (p.Glu848Asp) c.2552-6894G>T (n.2552-6894G>T) c.2592G>T (p.Glu864Asp) c.2564-6894G>T (n.2564-6894G>T) | |
| 10 | g.60145981C= | CA1913778397 | ANK3 | c.2576-6894G= (n.2576-6894G=) c.2604G= (p.Glu868=) c.2615-6894G= (n.2615-6894G=) c.2597-6894G= (n.2597-6894G=) c.93G= (p.Glu31=) c.177G= (p.Glu59=) c.*1184-6894G= (n.*1184-6894G=) c.2655G= (p.Glu885=) c.2643G= (p.Glu881=) c.2637G= (p.Glu879=) c.2598G= (p.Glu866=) c.2577G= (p.Glu859=) c.2556G= (p.Glu852=) c.2544G= (p.Glu848=) c.2552-6894G= (n.2552-6894G=) c.2592G= (p.Glu864=) c.2564-6894G= (n.2564-6894G=) | |
| 10 | g.60145981C>G | CA376980402 | ANK3 | c.2576-6894G>C (n.2576-6894G>C) c.2604G>C (p.Glu868Asp) c.2615-6894G>C (n.2615-6894G>C) c.2597-6894G>C (n.2597-6894G>C) c.93G>C (p.Glu31Asp) c.177G>C (p.Glu59Asp) c.*1184-6894G>C (n.*1184-6894G>C) c.2655G>C (p.Glu885Asp) c.2643G>C (p.Glu881Asp) c.2637G>C (p.Glu879Asp) c.2598G>C (p.Glu866Asp) c.2577G>C (p.Glu859Asp) c.2556G>C (p.Glu852Asp) c.2544G>C (p.Glu848Asp) c.2552-6894G>C (n.2552-6894G>C) c.2592G>C (p.Glu864Asp) c.2564-6894G>C (n.2564-6894G>C) | |
| 10 | g.60145981C>T | CA593873903 | ANK3 | c.2576-6894G>A (n.2576-6894G>A) c.2604G>A (p.Glu868=) c.2615-6894G>A (n.2615-6894G>A) c.2597-6894G>A (n.2597-6894G>A) c.93G>A (p.Glu31=) c.177G>A (p.Glu59=) c.*1184-6894G>A (n.*1184-6894G>A) c.2655G>A (p.Glu885=) c.2643G>A (p.Glu881=) c.2637G>A (p.Glu879=) c.2598G>A (p.Glu866=) c.2577G>A (p.Glu859=) c.2556G>A (p.Glu852=) c.2544G>A (p.Glu848=) c.2552-6894G>A (n.2552-6894G>A) c.2592G>A (p.Glu864=) c.2564-6894G>A (n.2564-6894G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145982T>A | CA376980405 | ANK3 | c.2576-6895A>T (n.2576-6895A>T) c.2603A>T (p.Glu868Val) c.2615-6895A>T (n.2615-6895A>T) c.2597-6895A>T (n.2597-6895A>T) c.92A>T (p.Glu31Val) c.176A>T (p.Glu59Val) c.*1184-6895A>T (n.*1184-6895A>T) c.2654A>T (p.Glu885Val) c.2642A>T (p.Glu881Val) c.2636A>T (p.Glu879Val) c.2597A>T (p.Glu866Val) c.2576A>T (p.Glu859Val) c.2555A>T (p.Glu852Val) c.2543A>T (p.Glu848Val) c.2552-6895A>T (n.2552-6895A>T) c.2591A>T (p.Glu864Val) c.2564-6895A>T (n.2564-6895A>T) | |
| 10 | g.60145982T>C | CA376980404 | ANK3 | c.2576-6895A>G (n.2576-6895A>G) c.2603A>G (p.Glu868Gly) c.2615-6895A>G (n.2615-6895A>G) c.2597-6895A>G (n.2597-6895A>G) c.92A>G (p.Glu31Gly) c.176A>G (p.Glu59Gly) c.*1184-6895A>G (n.*1184-6895A>G) c.2654A>G (p.Glu885Gly) c.2642A>G (p.Glu881Gly) c.2636A>G (p.Glu879Gly) c.2597A>G (p.Glu866Gly) c.2576A>G (p.Glu859Gly) c.2555A>G (p.Glu852Gly) c.2543A>G (p.Glu848Gly) c.2552-6895A>G (n.2552-6895A>G) c.2591A>G (p.Glu864Gly) c.2564-6895A>G (n.2564-6895A>G) | |
| 10 | g.60145982T>G | CA376980403 | ANK3 | c.2576-6895A>C (n.2576-6895A>C) c.2603A>C (p.Glu868Ala) c.2615-6895A>C (n.2615-6895A>C) c.2597-6895A>C (n.2597-6895A>C) c.92A>C (p.Glu31Ala) c.176A>C (p.Glu59Ala) c.*1184-6895A>C (n.*1184-6895A>C) c.2654A>C (p.Glu885Ala) c.2642A>C (p.Glu881Ala) c.2636A>C (p.Glu879Ala) c.2597A>C (p.Glu866Ala) c.2576A>C (p.Glu859Ala) c.2555A>C (p.Glu852Ala) c.2543A>C (p.Glu848Ala) c.2552-6895A>C (n.2552-6895A>C) c.2591A>C (p.Glu864Ala) c.2564-6895A>C (n.2564-6895A>C) | |
| 10 | g.60145983C>A | CA376980406 | ANK3 | c.2576-6896G>T (n.2576-6896G>T) c.2602G>T (p.Glu868Ter) c.2615-6896G>T (n.2615-6896G>T) c.2597-6896G>T (n.2597-6896G>T) c.91G>T (p.Glu31Ter) c.175G>T (p.Glu59Ter) c.*1184-6896G>T (n.*1184-6896G>T) c.2653G>T (p.Glu885Ter) c.2641G>T (p.Glu881Ter) c.2635G>T (p.Glu879Ter) c.2596G>T (p.Glu866Ter) c.2575G>T (p.Glu859Ter) c.2554G>T (p.Glu852Ter) c.2542G>T (p.Glu848Ter) c.2552-6896G>T (n.2552-6896G>T) c.2590G>T (p.Glu864Ter) c.2564-6896G>T (n.2564-6896G>T) | |
| 10 | g.60145983C>G | CA376980407 | ANK3 | c.2576-6896G>C (n.2576-6896G>C) c.2602G>C (p.Glu868Gln) c.2615-6896G>C (n.2615-6896G>C) c.2597-6896G>C (n.2597-6896G>C) c.91G>C (p.Glu31Gln) c.175G>C (p.Glu59Gln) c.*1184-6896G>C (n.*1184-6896G>C) c.2653G>C (p.Glu885Gln) c.2641G>C (p.Glu881Gln) c.2635G>C (p.Glu879Gln) c.2596G>C (p.Glu866Gln) c.2575G>C (p.Glu859Gln) c.2554G>C (p.Glu852Gln) c.2542G>C (p.Glu848Gln) c.2552-6896G>C (n.2552-6896G>C) c.2590G>C (p.Glu864Gln) c.2564-6896G>C (n.2564-6896G>C) | |
| 10 | g.60145983C>T | CA376980408 | ANK3 | c.2576-6896G>A (n.2576-6896G>A) c.2602G>A (p.Glu868Lys) c.2615-6896G>A (n.2615-6896G>A) c.2597-6896G>A (n.2597-6896G>A) c.91G>A (p.Glu31Lys) c.175G>A (p.Glu59Lys) c.*1184-6896G>A (n.*1184-6896G>A) c.2653G>A (p.Glu885Lys) c.2641G>A (p.Glu881Lys) c.2635G>A (p.Glu879Lys) c.2596G>A (p.Glu866Lys) c.2575G>A (p.Glu859Lys) c.2554G>A (p.Glu852Lys) c.2542G>A (p.Glu848Lys) c.2552-6896G>A (n.2552-6896G>A) c.2590G>A (p.Glu864Lys) c.2564-6896G>A (n.2564-6896G>A) | gnomAD v4 |
| 10 | g.60145984T>A | CA376980409 | ANK3 | c.2576-6897A>T (n.2576-6897A>T) c.2601A>T (p.Gln867His) c.2615-6897A>T (n.2615-6897A>T) c.2597-6897A>T (n.2597-6897A>T) c.90A>T (p.Gln30His) c.174A>T (p.Gln58His) c.*1184-6897A>T (n.*1184-6897A>T) c.2652A>T (p.Gln884His) c.2640A>T (p.Gln880His) c.2634A>T (p.Gln878His) c.2595A>T (p.Gln865His) c.2574A>T (p.Gln858His) c.2553A>T (p.Gln851His) c.2541A>T (p.Gln847His) c.2552-6897A>T (n.2552-6897A>T) c.2589A>T (p.Gln863His) c.2564-6897A>T (n.2564-6897A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |