Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47848671G>ACA352591583DHX30c.2623G>A (p.Ala875Thr)
c.2539G>A (p.Ala847Thr)
c.*2523G>A (n.*2523G>A)
c.2707G>A (p.Ala903Thr)
n.740G>A
c.2506G>A (p.Ala836Thr)
c.2527G>A (p.Ala843Thr)
c.2836G>A (p.Ala946Thr)
c.2725G>A (p.Ala909Thr)
c.2755G>A (p.Ala919Thr)
c.2512G>A (p.Ala838Thr)
3g.47848671G>CCA352591585DHX30c.2623G>C (p.Ala875Pro)
c.2539G>C (p.Ala847Pro)
c.*2523G>C (n.*2523G>C)
c.2707G>C (p.Ala903Pro)
n.740G>C
c.2506G>C (p.Ala836Pro)
c.2527G>C (p.Ala843Pro)
c.2836G>C (p.Ala946Pro)
c.2725G>C (p.Ala909Pro)
c.2755G>C (p.Ala919Pro)
c.2512G>C (p.Ala838Pro)
3g.47848671G>TCA352591587DHX30c.2623G>T (p.Ala875Ser)
c.2539G>T (p.Ala847Ser)
c.*2523G>T (n.*2523G>T)
c.2707G>T (p.Ala903Ser)
n.740G>T
c.2506G>T (p.Ala836Ser)
c.2527G>T (p.Ala843Ser)
c.2836G>T (p.Ala946Ser)
c.2725G>T (p.Ala909Ser)
c.2755G>T (p.Ala919Ser)
c.2512G>T (p.Ala838Ser)
3g.47848672C>ACA352591589DHX30c.2624C>A (p.Ala875Asp)
c.2540C>A (p.Ala847Asp)
c.*2524C>A (n.*2524C>A)
c.2708C>A (p.Ala903Asp)
n.741C>A
c.2507C>A (p.Ala836Asp)
c.2528C>A (p.Ala843Asp)
c.2837C>A (p.Ala946Asp)
c.2726C>A (p.Ala909Asp)
c.2756C>A (p.Ala919Asp)
c.2513C>A (p.Ala838Asp)
3g.47848672C=CA1362750411DHX30c.2624C= (p.Ala875=)
c.2540C= (p.Ala847=)
c.*2524C= (n.*2524C=)
c.2708C= (p.Ala903=)
n.741C=
c.2507C= (p.Ala836=)
c.2528C= (p.Ala843=)
c.2837C= (p.Ala946=)
c.2726C= (p.Ala909=)
c.2756C= (p.Ala919=)
c.2513C= (p.Ala838=)
3g.47848672C>GCA352591590DHX30c.2624C>G (p.Ala875Gly)
c.2540C>G (p.Ala847Gly)
c.*2524C>G (n.*2524C>G)
c.2708C>G (p.Ala903Gly)
n.741C>G
c.2507C>G (p.Ala836Gly)
c.2528C>G (p.Ala843Gly)
c.2837C>G (p.Ala946Gly)
c.2726C>G (p.Ala909Gly)
c.2756C>G (p.Ala919Gly)
c.2513C>G (p.Ala838Gly)
3g.47848672C>TCA352591591DHX30c.2624C>T (p.Ala875Val)
c.2540C>T (p.Ala847Val)
c.*2524C>T (n.*2524C>T)
c.2708C>T (p.Ala903Val)
n.741C>T
c.2507C>T (p.Ala836Val)
c.2528C>T (p.Ala843Val)
c.2837C>T (p.Ala946Val)
c.2726C>T (p.Ala909Val)
c.2756C>T (p.Ala919Val)
c.2513C>T (p.Ala838Val)
 dbSNP gnomAD v2 gnomAD v4
3g.47848673T>ACA433608913DHX30c.2625T>A (p.Ala875=)
c.2541T>A (p.Ala847=)
c.*2525T>A (n.*2525T>A)
c.2709T>A (p.Ala903=)
n.742T>A
c.2508T>A (p.Ala836=)
c.2529T>A (p.Ala843=)
c.2838T>A (p.Ala946=)
c.2727T>A (p.Ala909=)
c.2757T>A (p.Ala919=)
c.2514T>A (p.Ala838=)
3g.47848673T>CCA433608910DHX30c.2625T>C (p.Ala875=)
c.2541T>C (p.Ala847=)
c.*2525T>C (n.*2525T>C)
c.2709T>C (p.Ala903=)
n.742T>C
c.2508T>C (p.Ala836=)
c.2529T>C (p.Ala843=)
c.2838T>C (p.Ala946=)
c.2727T>C (p.Ala909=)
c.2757T>C (p.Ala919=)
c.2514T>C (p.Ala838=)
 gnomAD v4
3g.47848673T>GCA433608912DHX30c.2625T>G (p.Ala875=)
c.2541T>G (p.Ala847=)
c.*2525T>G (n.*2525T>G)
c.2709T>G (p.Ala903=)
n.742T>G
c.2508T>G (p.Ala836=)
c.2529T>G (p.Ala843=)
c.2838T>G (p.Ala946=)
c.2727T>G (p.Ala909=)
c.2757T>G (p.Ala919=)
c.2514T>G (p.Ala838=)
3g.47848674C>ACA352591598DHX30c.2626C>A (p.His876Asn)
c.2542C>A (p.His848Asn)
c.*2526C>A (n.*2526C>A)
c.2710C>A (p.His904Asn)
n.743C>A
c.2509C>A (p.His837Asn)
c.2530C>A (p.His844Asn)
c.2839C>A (p.His947Asn)
c.2728C>A (p.His910Asn)
c.2758C>A (p.His920Asn)
c.2515C>A (p.His839Asn)
3g.47848674C>GCA352591596DHX30c.2626C>G (p.His876Asp)
c.2542C>G (p.His848Asp)
c.*2526C>G (n.*2526C>G)
c.2710C>G (p.His904Asp)
n.743C>G
c.2509C>G (p.His837Asp)
c.2530C>G (p.His844Asp)
c.2839C>G (p.His947Asp)
c.2728C>G (p.His910Asp)
c.2758C>G (p.His920Asp)
c.2515C>G (p.His839Asp)
3g.47848674C>TCA352591593DHX30c.2626C>T (p.His876Tyr)
c.2542C>T (p.His848Tyr)
c.*2526C>T (n.*2526C>T)
c.2710C>T (p.His904Tyr)
n.743C>T
c.2509C>T (p.His837Tyr)
c.2530C>T (p.His844Tyr)
c.2839C>T (p.His947Tyr)
c.2728C>T (p.His910Tyr)
c.2758C>T (p.His920Tyr)
c.2515C>T (p.His839Tyr)
 ClinVar gnomAD v4
3g.47848675A=CA1362750412DHX30c.2627A= (p.His876=)
c.2543A= (p.His848=)
c.*2527A= (n.*2527A=)
c.2711A= (p.His904=)
n.744A=
c.2510A= (p.His837=)
c.2531A= (p.His844=)
c.2840A= (p.His947=)
c.2729A= (p.His910=)
c.2759A= (p.His920=)
c.2516A= (p.His839=)
3g.47848675A>CCA352591599DHX30c.2627A>C (p.His876Pro)
c.2543A>C (p.His848Pro)
c.*2527A>C (n.*2527A>C)
c.2711A>C (p.His904Pro)
n.744A>C
c.2510A>C (p.His837Pro)
c.2531A>C (p.His844Pro)
c.2840A>C (p.His947Pro)
c.2729A>C (p.His910Pro)
c.2759A>C (p.His920Pro)
c.2516A>C (p.His839Pro)
3g.47848675A>GCA352591601DHX30c.2627A>G (p.His876Arg)
c.2543A>G (p.His848Arg)
c.*2527A>G (n.*2527A>G)
c.2711A>G (p.His904Arg)
n.744A>G
c.2510A>G (p.His837Arg)
c.2531A>G (p.His844Arg)
c.2840A>G (p.His947Arg)
c.2729A>G (p.His910Arg)
c.2759A>G (p.His920Arg)
c.2516A>G (p.His839Arg)
 dbSNP
3g.47848675A>TCA352591602DHX30c.2627A>T (p.His876Leu)
c.2543A>T (p.His848Leu)
c.*2527A>T (n.*2527A>T)
c.2711A>T (p.His904Leu)
n.744A>T
c.2510A>T (p.His837Leu)
c.2531A>T (p.His844Leu)
c.2840A>T (p.His947Leu)
c.2729A>T (p.His910Leu)
c.2759A>T (p.His920Leu)
c.2516A>T (p.His839Leu)
3g.47848676C>ACA352591605DHX30c.2628C>A (p.His876Gln)
c.2544C>A (p.His848Gln)
c.*2528C>A (n.*2528C>A)
c.2712C>A (p.His904Gln)
n.745C>A
c.2511C>A (p.His837Gln)
c.2532C>A (p.His844Gln)
c.2841C>A (p.His947Gln)
c.2730C>A (p.His910Gln)
c.2760C>A (p.His920Gln)
c.2517C>A (p.His839Gln)
3g.47848676C=CA1362750413DHX30c.2628C= (p.His876=)
c.2544C= (p.His848=)
c.*2528C= (n.*2528C=)
c.2712C= (p.His904=)
n.745C=
c.2511C= (p.His837=)
c.2532C= (p.His844=)
c.2841C= (p.His947=)
c.2730C= (p.His910=)
c.2760C= (p.His920=)
c.2517C= (p.His839=)
3g.47848676C>GCA352591606DHX30c.2628C>G (p.His876Gln)
c.2544C>G (p.His848Gln)
c.*2528C>G (n.*2528C>G)
c.2712C>G (p.His904Gln)
n.745C>G
c.2511C>G (p.His837Gln)
c.2532C>G (p.His844Gln)
c.2841C>G (p.His947Gln)
c.2730C>G (p.His910Gln)
c.2760C>G (p.His920Gln)
c.2517C>G (p.His839Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.47848676C>TCA433608923DHX30c.2628C>T (p.His876=)
c.2544C>T (p.His848=)
c.*2528C>T (n.*2528C>T)
c.2712C>T (p.His904=)
n.745C>T
c.2511C>T (p.His837=)
c.2532C>T (p.His844=)
c.2841C>T (p.His947=)
c.2730C>T (p.His910=)
c.2760C>T (p.His920=)
c.2517C>T (p.His839=)
 gnomAD v4
3g.47848677A>CCA352591609DHX30c.2629A>C (p.Ile877Leu)
c.2545A>C (p.Ile849Leu)
c.*2529A>C (n.*2529A>C)
c.2713A>C (p.Ile905Leu)
n.746A>C
c.2512A>C (p.Ile838Leu)
c.2533A>C (p.Ile845Leu)
c.2842A>C (p.Ile948Leu)
c.2731A>C (p.Ile911Leu)
c.2761A>C (p.Ile921Leu)
c.2518A>C (p.Ile840Leu)
3g.47848677A>GCA352591611DHX30c.2629A>G (p.Ile877Val)
c.2545A>G (p.Ile849Val)
c.*2529A>G (n.*2529A>G)
c.2713A>G (p.Ile905Val)
n.746A>G
c.2512A>G (p.Ile838Val)
c.2533A>G (p.Ile845Val)
c.2842A>G (p.Ile948Val)
c.2731A>G (p.Ile911Val)
c.2761A>G (p.Ile921Val)
c.2518A>G (p.Ile840Val)
3g.47848677A>TCA352591613DHX30c.2629A>T (p.Ile877Phe)
c.2545A>T (p.Ile849Phe)
c.*2529A>T (n.*2529A>T)
c.2713A>T (p.Ile905Phe)
n.746A>T
c.2512A>T (p.Ile838Phe)
c.2533A>T (p.Ile845Phe)
c.2842A>T (p.Ile948Phe)
c.2731A>T (p.Ile911Phe)
c.2761A>T (p.Ile921Phe)
c.2518A>T (p.Ile840Phe)
3g.47848678T>ACA352591615DHX30c.2630T>A (p.Ile877Asn)
c.2546T>A (p.Ile849Asn)
c.*2530T>A (n.*2530T>A)
c.2714T>A (p.Ile905Asn)
n.747T>A
c.2513T>A (p.Ile838Asn)
c.2534T>A (p.Ile845Asn)
c.2843T>A (p.Ile948Asn)
c.2732T>A (p.Ile911Asn)
c.2762T>A (p.Ile921Asn)
c.2519T>A (p.Ile840Asn)
3g.47848678T>CCA352591617DHX30c.2630T>C (p.Ile877Thr)
c.2546T>C (p.Ile849Thr)
c.*2530T>C (n.*2530T>C)
c.2714T>C (p.Ile905Thr)
n.747T>C
c.2513T>C (p.Ile838Thr)
c.2534T>C (p.Ile845Thr)
c.2843T>C (p.Ile948Thr)
c.2732T>C (p.Ile911Thr)
c.2762T>C (p.Ile921Thr)
c.2519T>C (p.Ile840Thr)
3g.47848678T>GCA352591618DHX30c.2630T>G (p.Ile877Ser)
c.2546T>G (p.Ile849Ser)
c.*2530T>G (n.*2530T>G)
c.2714T>G (p.Ile905Ser)
n.747T>G
c.2513T>G (p.Ile838Ser)
c.2534T>G (p.Ile845Ser)
c.2843T>G (p.Ile948Ser)
c.2732T>G (p.Ile911Ser)
c.2762T>G (p.Ile921Ser)
c.2519T>G (p.Ile840Ser)
3g.47848679C>ACA433608928DHX30c.2631C>A (p.Ile877=)
c.2547C>A (p.Ile849=)
c.*2531C>A (n.*2531C>A)
c.2715C>A (p.Ile905=)
n.748C>A
c.2514C>A (p.Ile838=)
c.2535C>A (p.Ile845=)
c.2844C>A (p.Ile948=)
c.2733C>A (p.Ile911=)
c.2763C>A (p.Ile921=)
c.2520C>A (p.Ile840=)
3g.47848679C>GCA352591619DHX30c.2631C>G (p.Ile877Met)
c.2547C>G (p.Ile849Met)
c.*2531C>G (n.*2531C>G)
c.2715C>G (p.Ile905Met)
n.748C>G
c.2514C>G (p.Ile838Met)
c.2535C>G (p.Ile845Met)
c.2844C>G (p.Ile948Met)
c.2733C>G (p.Ile911Met)
c.2763C>G (p.Ile921Met)
c.2520C>G (p.Ile840Met)
 gnomAD v4
3g.47848679C>TCA433608929DHX30c.2631C>T (p.Ile877=)
c.2547C>T (p.Ile849=)
c.*2531C>T (n.*2531C>T)
c.2715C>T (p.Ile905=)
n.748C>T
c.2514C>T (p.Ile838=)
c.2535C>T (p.Ile845=)
c.2844C>T (p.Ile948=)
c.2733C>T (p.Ile911=)
c.2763C>T (p.Ile921=)
c.2520C>T (p.Ile840=)
3g.47848680T>ACA352591622DHX30c.2632T>A (p.Ser878Thr)
c.2548T>A (p.Ser850Thr)
c.*2532T>A (n.*2532T>A)
c.2716T>A (p.Ser906Thr)
n.749T>A
c.2515T>A (p.Ser839Thr)
c.2536T>A (p.Ser846Thr)
c.2845T>A (p.Ser949Thr)
c.2734T>A (p.Ser912Thr)
c.2764T>A (p.Ser922Thr)
c.2521T>A (p.Ser841Thr)
3g.47848680T>CCA352591624DHX30c.2632T>C (p.Ser878Pro)
c.2548T>C (p.Ser850Pro)
c.*2532T>C (n.*2532T>C)
c.2716T>C (p.Ser906Pro)
n.749T>C
c.2515T>C (p.Ser839Pro)
c.2536T>C (p.Ser846Pro)
c.2845T>C (p.Ser949Pro)
c.2734T>C (p.Ser912Pro)
c.2764T>C (p.Ser922Pro)
c.2521T>C (p.Ser841Pro)
 gnomAD v4
3g.47848680T>GCA352591620DHX30c.2632T>G (p.Ser878Ala)
c.2548T>G (p.Ser850Ala)
c.*2532T>G (n.*2532T>G)
c.2716T>G (p.Ser906Ala)
n.749T>G
c.2515T>G (p.Ser839Ala)
c.2536T>G (p.Ser846Ala)
c.2845T>G (p.Ser949Ala)
c.2734T>G (p.Ser912Ala)
c.2764T>G (p.Ser922Ala)
c.2521T>G (p.Ser841Ala)
3g.47848681C>ACA352591626DHX30c.2633C>A (p.Ser878Tyr)
c.2549C>A (p.Ser850Tyr)
c.*2533C>A (n.*2533C>A)
c.2717C>A (p.Ser906Tyr)
n.750C>A
c.2516C>A (p.Ser839Tyr)
c.2537C>A (p.Ser846Tyr)
c.2846C>A (p.Ser949Tyr)
c.2735C>A (p.Ser912Tyr)
c.2765C>A (p.Ser922Tyr)
c.2522C>A (p.Ser841Tyr)
 gnomAD v4
3g.47848681C>GCA352591628DHX30c.2633C>G (p.Ser878Cys)
c.2549C>G (p.Ser850Cys)
c.*2533C>G (n.*2533C>G)
c.2717C>G (p.Ser906Cys)
n.750C>G
c.2516C>G (p.Ser839Cys)
c.2537C>G (p.Ser846Cys)
c.2846C>G (p.Ser949Cys)
c.2735C>G (p.Ser912Cys)
c.2765C>G (p.Ser922Cys)
c.2522C>G (p.Ser841Cys)
3g.47848681C>TCA352591630DHX30c.2633C>T (p.Ser878Phe)
c.2549C>T (p.Ser850Phe)
c.*2533C>T (n.*2533C>T)
c.2717C>T (p.Ser906Phe)
n.750C>T
c.2516C>T (p.Ser839Phe)
c.2537C>T (p.Ser846Phe)
c.2846C>T (p.Ser949Phe)
c.2735C>T (p.Ser912Phe)
c.2765C>T (p.Ser922Phe)
c.2522C>T (p.Ser841Phe)
3g.47848682C>ACA433608936DHX30c.2634C>A (p.Ser878=)
c.2550C>A (p.Ser850=)
c.*2534C>A (n.*2534C>A)
c.2718C>A (p.Ser906=)
n.751C>A
c.2517C>A (p.Ser839=)
c.2538C>A (p.Ser846=)
c.2847C>A (p.Ser949=)
c.2736C>A (p.Ser912=)
c.2766C>A (p.Ser922=)
c.2523C>A (p.Ser841=)
 dbSNP gnomAD v3 gnomAD v4
3g.47848682C=CA1362750414DHX30c.2634C= (p.Ser878=)
c.2550C= (p.Ser850=)
c.*2534C= (n.*2534C=)
c.2718C= (p.Ser906=)
n.751C=
c.2517C= (p.Ser839=)
c.2538C= (p.Ser846=)
c.2847C= (p.Ser949=)
c.2736C= (p.Ser912=)
c.2766C= (p.Ser922=)
c.2523C= (p.Ser841=)
3g.47848682C>GCA433608937DHX30c.2634C>G (p.Ser878=)
c.2550C>G (p.Ser850=)
c.*2534C>G (n.*2534C>G)
c.2718C>G (p.Ser906=)
n.751C>G
c.2517C>G (p.Ser839=)
c.2538C>G (p.Ser846=)
c.2847C>G (p.Ser949=)
c.2736C>G (p.Ser912=)
c.2766C>G (p.Ser922=)
c.2523C>G (p.Ser841=)
3g.47848682C>TCA2370186DHX30c.2634C>T (p.Ser878=)
c.2550C>T (p.Ser850=)
c.*2534C>T (n.*2534C>T)
c.2718C>T (p.Ser906=)
n.751C>T
c.2517C>T (p.Ser839=)
c.2538C>T (p.Ser846=)
c.2847C>T (p.Ser949=)
c.2736C>T (p.Ser912=)
c.2766C>T (p.Ser922=)
c.2523C>T (p.Ser841=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848683A>CCA352591637DHX30c.2635A>C (p.Thr879Pro)
c.2551A>C (p.Thr851Pro)
c.*2535A>C (n.*2535A>C)
c.2719A>C (p.Thr907Pro)
n.752A>C
c.2518A>C (p.Thr840Pro)
c.2539A>C (p.Thr847Pro)
c.2848A>C (p.Thr950Pro)
c.2737A>C (p.Thr913Pro)
c.2767A>C (p.Thr923Pro)
c.2524A>C (p.Thr842Pro)
3g.47848683A>GCA352591635DHX30c.2635A>G (p.Thr879Ala)
c.2551A>G (p.Thr851Ala)
c.*2535A>G (n.*2535A>G)
c.2719A>G (p.Thr907Ala)
n.752A>G
c.2518A>G (p.Thr840Ala)
c.2539A>G (p.Thr847Ala)
c.2848A>G (p.Thr950Ala)
c.2737A>G (p.Thr913Ala)
c.2767A>G (p.Thr923Ala)
c.2524A>G (p.Thr842Ala)
3g.47848683A>TCA352591633DHX30c.2635A>T (p.Thr879Ser)
c.2551A>T (p.Thr851Ser)
c.*2535A>T (n.*2535A>T)
c.2719A>T (p.Thr907Ser)
n.752A>T
c.2518A>T (p.Thr840Ser)
c.2539A>T (p.Thr847Ser)
c.2848A>T (p.Thr950Ser)
c.2737A>T (p.Thr913Ser)
c.2767A>T (p.Thr923Ser)
c.2524A>T (p.Thr842Ser)
3g.47848684C>ACA352591640DHX30c.2636C>A (p.Thr879Asn)
c.2552C>A (p.Thr851Asn)
c.*2536C>A (n.*2536C>A)
c.2720C>A (p.Thr907Asn)
n.753C>A
c.2519C>A (p.Thr840Asn)
c.2540C>A (p.Thr847Asn)
c.2849C>A (p.Thr950Asn)
c.2738C>A (p.Thr913Asn)
c.2768C>A (p.Thr923Asn)
c.2525C>A (p.Thr842Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.47848684C=CA1362750415DHX30c.2636C= (p.Thr879=)
c.2552C= (p.Thr851=)
c.*2536C= (n.*2536C=)
c.2720C= (p.Thr907=)
n.753C=
c.2519C= (p.Thr840=)
c.2540C= (p.Thr847=)
c.2849C= (p.Thr950=)
c.2738C= (p.Thr913=)
c.2768C= (p.Thr923=)
c.2525C= (p.Thr842=)
3g.47848684C>GCA352591642DHX30c.2636C>G (p.Thr879Ser)
c.2552C>G (p.Thr851Ser)
c.*2536C>G (n.*2536C>G)
c.2720C>G (p.Thr907Ser)
n.753C>G
c.2519C>G (p.Thr840Ser)
c.2540C>G (p.Thr847Ser)
c.2849C>G (p.Thr950Ser)
c.2738C>G (p.Thr913Ser)
c.2768C>G (p.Thr923Ser)
c.2525C>G (p.Thr842Ser)
3g.47848684C>TCA352591643DHX30c.2636C>T (p.Thr879Ile)
c.2552C>T (p.Thr851Ile)
c.*2536C>T (n.*2536C>T)
c.2720C>T (p.Thr907Ile)
n.753C>T
c.2519C>T (p.Thr840Ile)
c.2540C>T (p.Thr847Ile)
c.2849C>T (p.Thr950Ile)
c.2738C>T (p.Thr913Ile)
c.2768C>T (p.Thr923Ile)
c.2525C>T (p.Thr842Ile)
3g.47848685C>ACA433608941DHX30c.2637C>A (p.Thr879=)
c.2553C>A (p.Thr851=)
c.*2537C>A (n.*2537C>A)
c.2721C>A (p.Thr907=)
n.754C>A
c.2520C>A (p.Thr840=)
c.2541C>A (p.Thr847=)
c.2850C>A (p.Thr950=)
c.2739C>A (p.Thr913=)
c.2769C>A (p.Thr923=)
c.2526C>A (p.Thr842=)
3g.47848685C=CA1362750416DHX30c.2637C= (p.Thr879=)
c.2553C= (p.Thr851=)
c.*2537C= (n.*2537C=)
c.2721C= (p.Thr907=)
n.754C=
c.2520C= (p.Thr840=)
c.2541C= (p.Thr847=)
c.2850C= (p.Thr950=)
c.2739C= (p.Thr913=)
c.2769C= (p.Thr923=)
c.2526C= (p.Thr842=)
3g.47848685C>GCA433608942DHX30c.2637C>G (p.Thr879=)
c.2553C>G (p.Thr851=)
c.*2537C>G (n.*2537C>G)
c.2721C>G (p.Thr907=)
n.754C>G
c.2520C>G (p.Thr840=)
c.2541C>G (p.Thr847=)
c.2850C>G (p.Thr950=)
c.2739C>G (p.Thr913=)
c.2769C>G (p.Thr923=)
c.2526C>G (p.Thr842=)
3g.47848685C>TCA2370187DHX30c.2637C>T (p.Thr879=)
c.2553C>T (p.Thr851=)
c.*2537C>T (n.*2537C>T)
c.2721C>T (p.Thr907=)
n.754C>T
c.2520C>T (p.Thr840=)
c.2541C>T (p.Thr847=)
c.2850C>T (p.Thr950=)
c.2739C>T (p.Thr913=)
c.2769C>T (p.Thr923=)
c.2526C>T (p.Thr842=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.47848686G>ACA352591644DHX30c.2638G>A (p.Asp880Asn)
c.2554G>A (p.Asp852Asn)
c.*2538G>A (n.*2538G>A)
c.2722G>A (p.Asp908Asn)
n.755G>A
c.2521G>A (p.Asp841Asn)
c.2542G>A (p.Asp848Asn)
c.2851G>A (p.Asp951Asn)
c.2740G>A (p.Asp914Asn)
c.2770G>A (p.Asp924Asn)
c.2527G>A (p.Asp843Asn)
 dbSNP gnomAD v4 COSMIC
3g.47848686G>CCA352591646DHX30c.2638G>C (p.Asp880His)
c.2554G>C (p.Asp852His)
c.*2538G>C (n.*2538G>C)
c.2722G>C (p.Asp908His)
n.755G>C
c.2521G>C (p.Asp841His)
c.2542G>C (p.Asp848His)
c.2851G>C (p.Asp951His)
c.2740G>C (p.Asp914His)
c.2770G>C (p.Asp924His)
c.2527G>C (p.Asp843His)
 gnomAD v4
3g.47848686G=CA1362750417DHX30c.2638G= (p.Asp880=)
c.2554G= (p.Asp852=)
c.*2538G= (n.*2538G=)
c.2722G= (p.Asp908=)
n.755G=
c.2521G= (p.Asp841=)
c.2542G= (p.Asp848=)
c.2851G= (p.Asp951=)
c.2740G= (p.Asp914=)
c.2770G= (p.Asp924=)
c.2527G= (p.Asp843=)
3g.47848686G>TCA352591647DHX30c.2638G>T (p.Asp880Tyr)
c.2554G>T (p.Asp852Tyr)
c.*2538G>T (n.*2538G>T)
c.2722G>T (p.Asp908Tyr)
n.755G>T
c.2521G>T (p.Asp841Tyr)
c.2542G>T (p.Asp848Tyr)
c.2851G>T (p.Asp951Tyr)
c.2740G>T (p.Asp914Tyr)
c.2770G>T (p.Asp924Tyr)
c.2527G>T (p.Asp843Tyr)
 gnomAD v4
3g.47848687A>CCA352591650DHX30c.2639A>C (p.Asp880Ala)
c.2555A>C (p.Asp852Ala)
c.*2539A>C (n.*2539A>C)
c.2723A>C (p.Asp908Ala)
n.756A>C
c.2522A>C (p.Asp841Ala)
c.2543A>C (p.Asp848Ala)
c.2852A>C (p.Asp951Ala)
c.2741A>C (p.Asp914Ala)
c.2771A>C (p.Asp924Ala)
c.2528A>C (p.Asp843Ala)
3g.47848687A>GCA352591652DHX30c.2639A>G (p.Asp880Gly)
c.2555A>G (p.Asp852Gly)
c.*2539A>G (n.*2539A>G)
c.2723A>G (p.Asp908Gly)
n.756A>G
c.2522A>G (p.Asp841Gly)
c.2543A>G (p.Asp848Gly)
c.2852A>G (p.Asp951Gly)
c.2741A>G (p.Asp914Gly)
c.2771A>G (p.Asp924Gly)
c.2528A>G (p.Asp843Gly)
3g.47848687A>TCA352591648DHX30c.2639A>T (p.Asp880Val)
c.2555A>T (p.Asp852Val)
c.*2539A>T (n.*2539A>T)
c.2723A>T (p.Asp908Val)
n.756A>T
c.2522A>T (p.Asp841Val)
c.2543A>T (p.Asp848Val)
c.2852A>T (p.Asp951Val)
c.2741A>T (p.Asp914Val)
c.2771A>T (p.Asp924Val)
c.2528A>T (p.Asp843Val)
 gnomAD v4
3g.47848688C>ACA352591656DHX30c.2640C>A (p.Asp880Glu)
c.2556C>A (p.Asp852Glu)
c.*2540C>A (n.*2540C>A)
c.2724C>A (p.Asp908Glu)
n.757C>A
c.2523C>A (p.Asp841Glu)
c.2544C>A (p.Asp848Glu)
c.2853C>A (p.Asp951Glu)
c.2742C>A (p.Asp914Glu)
c.2772C>A (p.Asp924Glu)
c.2529C>A (p.Asp843Glu)
 dbSNP gnomAD v4
3g.47848688C=CA1362750418DHX30c.2640C= (p.Asp880=)
c.2556C= (p.Asp852=)
c.*2540C= (n.*2540C=)
c.2724C= (p.Asp908=)
n.757C=
c.2523C= (p.Asp841=)
c.2544C= (p.Asp848=)
c.2853C= (p.Asp951=)
c.2742C= (p.Asp914=)
c.2772C= (p.Asp924=)
c.2529C= (p.Asp843=)
3g.47848688C>GCA352591654DHX30c.2640C>G (p.Asp880Glu)
c.2556C>G (p.Asp852Glu)
c.*2540C>G (n.*2540C>G)
c.2724C>G (p.Asp908Glu)
n.757C>G
c.2523C>G (p.Asp841Glu)
c.2544C>G (p.Asp848Glu)
c.2853C>G (p.Asp951Glu)
c.2742C>G (p.Asp914Glu)
c.2772C>G (p.Asp924Glu)
c.2529C>G (p.Asp843Glu)
3g.47848688C>TCA2370188DHX30c.2640C>T (p.Asp880=)
c.2556C>T (p.Asp852=)
c.*2540C>T (n.*2540C>T)
c.2724C>T (p.Asp908=)
n.757C>T
c.2523C>T (p.Asp841=)
c.2544C>T (p.Asp848=)
c.2853C>T (p.Asp951=)
c.2742C>T (p.Asp914=)
c.2772C>T (p.Asp924=)
c.2529C>T (p.Asp843=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848689C>ACA352591658DHX30c.2641C>A (p.Pro881Thr)
c.2557C>A (p.Pro853Thr)
c.*2541C>A (n.*2541C>A)
c.2725C>A (p.Pro909Thr)
n.758C>A
c.2524C>A (p.Pro842Thr)
c.2545C>A (p.Pro849Thr)
c.2854C>A (p.Pro952Thr)
c.2743C>A (p.Pro915Thr)
c.2773C>A (p.Pro925Thr)
c.2530C>A (p.Pro844Thr)
3g.47848689C>GCA352591660DHX30c.2641C>G (p.Pro881Ala)
c.2557C>G (p.Pro853Ala)
c.*2541C>G (n.*2541C>G)
c.2725C>G (p.Pro909Ala)
n.758C>G
c.2524C>G (p.Pro842Ala)
c.2545C>G (p.Pro849Ala)
c.2854C>G (p.Pro952Ala)
c.2743C>G (p.Pro915Ala)
c.2773C>G (p.Pro925Ala)
c.2530C>G (p.Pro844Ala)
3g.47848689C>TCA352591662DHX30c.2641C>T (p.Pro881Ser)
c.2557C>T (p.Pro853Ser)
c.*2541C>T (n.*2541C>T)
c.2725C>T (p.Pro909Ser)
n.758C>T
c.2524C>T (p.Pro842Ser)
c.2545C>T (p.Pro849Ser)
c.2854C>T (p.Pro952Ser)
c.2743C>T (p.Pro915Ser)
c.2773C>T (p.Pro925Ser)
c.2530C>T (p.Pro844Ser)
 gnomAD v4
3g.47848690C>ACA352591664DHX30c.2642C>A (p.Pro881His)
c.2558C>A (p.Pro853His)
c.*2542C>A (n.*2542C>A)
c.2726C>A (p.Pro909His)
n.759C>A
c.2525C>A (p.Pro842His)
c.2546C>A (p.Pro849His)
c.2855C>A (p.Pro952His)
c.2744C>A (p.Pro915His)
c.2774C>A (p.Pro925His)
c.2531C>A (p.Pro844His)
3g.47848690C>GCA352591666DHX30c.2642C>G (p.Pro881Arg)
c.2558C>G (p.Pro853Arg)
c.*2542C>G (n.*2542C>G)
c.2726C>G (p.Pro909Arg)
n.759C>G
c.2525C>G (p.Pro842Arg)
c.2546C>G (p.Pro849Arg)
c.2855C>G (p.Pro952Arg)
c.2744C>G (p.Pro915Arg)
c.2774C>G (p.Pro925Arg)
c.2531C>G (p.Pro844Arg)
3g.47848690C>TCA352591667DHX30c.2642C>T (p.Pro881Leu)
c.2558C>T (p.Pro853Leu)
c.*2542C>T (n.*2542C>T)
c.2726C>T (p.Pro909Leu)
n.759C>T
c.2525C>T (p.Pro842Leu)
c.2546C>T (p.Pro849Leu)
c.2855C>T (p.Pro952Leu)
c.2744C>T (p.Pro915Leu)
c.2774C>T (p.Pro925Leu)
c.2531C>T (p.Pro844Leu)
3g.47848691C>ACA433608957DHX30c.2643C>A (p.Pro881=)
c.2559C>A (p.Pro853=)
c.*2543C>A (n.*2543C>A)
c.2727C>A (p.Pro909=)
n.760C>A
c.2526C>A (p.Pro842=)
c.2547C>A (p.Pro849=)
c.2856C>A (p.Pro952=)
c.2745C>A (p.Pro915=)
c.2775C>A (p.Pro925=)
c.2532C>A (p.Pro844=)
3g.47848691C>GCA433608958DHX30c.2643C>G (p.Pro881=)
c.2559C>G (p.Pro853=)
c.*2543C>G (n.*2543C>G)
c.2727C>G (p.Pro909=)
n.760C>G
c.2526C>G (p.Pro842=)
c.2547C>G (p.Pro849=)
c.2856C>G (p.Pro952=)
c.2745C>G (p.Pro915=)
c.2775C>G (p.Pro925=)
c.2532C>G (p.Pro844=)
3g.47848691C>TCA433608959DHX30c.2643C>T (p.Pro881=)
c.2559C>T (p.Pro853=)
c.*2543C>T (n.*2543C>T)
c.2727C>T (p.Pro909=)
n.760C>T
c.2526C>T (p.Pro842=)
c.2547C>T (p.Pro849=)
c.2856C>T (p.Pro952=)
c.2745C>T (p.Pro915=)
c.2775C>T (p.Pro925=)
c.2532C>T (p.Pro844=)
3g.47848692C>ACA433608964DHX30c.2644C>A (p.Arg882=)
c.2560C>A (p.Arg854=)
c.*2544C>A (n.*2544C>A)
c.2728C>A (p.Arg910=)
n.761C>A
c.2527C>A (p.Arg843=)
c.2548C>A (p.Arg850=)
c.2857C>A (p.Arg953=)
c.2746C>A (p.Arg916=)
c.2776C>A (p.Arg926=)
c.2533C>A (p.Arg845=)
3g.47848692C>GCA352591670DHX30c.2644C>G (p.Arg882Gly)
c.2560C>G (p.Arg854Gly)
c.*2544C>G (n.*2544C>G)
c.2728C>G (p.Arg910Gly)
n.761C>G
c.2527C>G (p.Arg843Gly)
c.2548C>G (p.Arg850Gly)
c.2857C>G (p.Arg953Gly)
c.2746C>G (p.Arg916Gly)
c.2776C>G (p.Arg926Gly)
c.2533C>G (p.Arg845Gly)
3g.47848692C>TCA352591672DHX30c.2644C>T (p.Arg882Trp)
c.2560C>T (p.Arg854Trp)
c.*2544C>T (n.*2544C>T)
c.2728C>T (p.Arg910Trp)
n.761C>T
c.2527C>T (p.Arg843Trp)
c.2548C>T (p.Arg850Trp)
c.2857C>T (p.Arg953Trp)
c.2746C>T (p.Arg916Trp)
c.2776C>T (p.Arg926Trp)
c.2533C>T (p.Arg845Trp)
3g.47848693G>ACA352591675DHX30c.2645G>A (p.Arg882Gln)
c.2561G>A (p.Arg854Gln)
c.*2545G>A (n.*2545G>A)
c.2729G>A (p.Arg910Gln)
n.762G>A
c.2528G>A (p.Arg843Gln)
c.2549G>A (p.Arg850Gln)
c.2858G>A (p.Arg953Gln)
c.2747G>A (p.Arg916Gln)
c.2777G>A (p.Arg926Gln)
c.2534G>A (p.Arg845Gln)
3g.47848693G>CCA352591677DHX30c.2645G>C (p.Arg882Pro)
c.2561G>C (p.Arg854Pro)
c.*2545G>C (n.*2545G>C)
c.2729G>C (p.Arg910Pro)
n.762G>C
c.2528G>C (p.Arg843Pro)
c.2549G>C (p.Arg850Pro)
c.2858G>C (p.Arg953Pro)
c.2747G>C (p.Arg916Pro)
c.2777G>C (p.Arg926Pro)
c.2534G>C (p.Arg845Pro)
3g.47848693G>TCA352591678DHX30c.2645G>T (p.Arg882Leu)
c.2561G>T (p.Arg854Leu)
c.*2545G>T (n.*2545G>T)
c.2729G>T (p.Arg910Leu)
n.762G>T
c.2528G>T (p.Arg843Leu)
c.2549G>T (p.Arg850Leu)
c.2858G>T (p.Arg953Leu)
c.2747G>T (p.Arg916Leu)
c.2777G>T (p.Arg926Leu)
c.2534G>T (p.Arg845Leu)
3g.47848694G>ACA433608967DHX30c.2646G>A (p.Arg882=)
c.2562G>A (p.Arg854=)
c.*2546G>A (n.*2546G>A)
c.2730G>A (p.Arg910=)
n.763G>A
c.2529G>A (p.Arg843=)
c.2550G>A (p.Arg850=)
c.2859G>A (p.Arg953=)
c.2748G>A (p.Arg916=)
c.2778G>A (p.Arg926=)
c.2535G>A (p.Arg845=)
3g.47848694G>CCA2370189DHX30c.2646G>C (p.Arg882=)
c.2562G>C (p.Arg854=)
c.*2546G>C (n.*2546G>C)
c.2730G>C (p.Arg910=)
n.763G>C
c.2529G>C (p.Arg843=)
c.2550G>C (p.Arg850=)
c.2859G>C (p.Arg953=)
c.2748G>C (p.Arg916=)
c.2778G>C (p.Arg926=)
c.2535G>C (p.Arg845=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848694G=CA1362750419DHX30c.2646G= (p.Arg882=)
c.2562G= (p.Arg854=)
c.*2546G= (n.*2546G=)
c.2730G= (p.Arg910=)
n.763G=
c.2529G= (p.Arg843=)
c.2550G= (p.Arg850=)
c.2859G= (p.Arg953=)
c.2748G= (p.Arg916=)
c.2778G= (p.Arg926=)
c.2535G= (p.Arg845=)
3g.47848694G>TCA433608969DHX30c.2646G>T (p.Arg882=)
c.2562G>T (p.Arg854=)
c.*2546G>T (n.*2546G>T)
c.2730G>T (p.Arg910=)
n.763G>T
c.2529G>T (p.Arg843=)
c.2550G>T (p.Arg850=)
c.2859G>T (p.Arg953=)
c.2748G>T (p.Arg916=)
c.2778G>T (p.Arg926=)
c.2535G>T (p.Arg845=)
3g.47848695T>ACA352591683DHX30c.2647T>A (p.Leu883Met)
c.2563T>A (p.Leu855Met)
c.*2547T>A (n.*2547T>A)
c.2731T>A (p.Leu911Met)
n.764T>A
c.2530T>A (p.Leu844Met)
c.2551T>A (p.Leu851Met)
c.2860T>A (p.Leu954Met)
c.2749T>A (p.Leu917Met)
c.2779T>A (p.Leu927Met)
c.2536T>A (p.Leu846Met)
3g.47848695T>CCA433608972DHX30c.2647T>C (p.Leu883=)
c.2563T>C (p.Leu855=)
c.*2547T>C (n.*2547T>C)
c.2731T>C (p.Leu911=)
n.764T>C
c.2530T>C (p.Leu844=)
c.2551T>C (p.Leu851=)
c.2860T>C (p.Leu954=)
c.2749T>C (p.Leu917=)
c.2779T>C (p.Leu927=)
c.2536T>C (p.Leu846=)
 dbSNP gnomAD v3 gnomAD v4
3g.47848695T>GCA352591682DHX30c.2647T>G (p.Leu883Val)
c.2563T>G (p.Leu855Val)
c.*2547T>G (n.*2547T>G)
c.2731T>G (p.Leu911Val)
n.764T>G
c.2530T>G (p.Leu844Val)
c.2551T>G (p.Leu851Val)
c.2860T>G (p.Leu954Val)
c.2749T>G (p.Leu917Val)
c.2779T>G (p.Leu927Val)
c.2536T>G (p.Leu846Val)
3g.47848695T=CA1362750420DHX30c.2647T= (p.Leu883=)
c.2563T= (p.Leu855=)
c.*2547T= (n.*2547T=)
c.2731T= (p.Leu911=)
n.764T=
c.2530T= (p.Leu844=)
c.2551T= (p.Leu851=)
c.2860T= (p.Leu954=)
c.2749T= (p.Leu917=)
c.2779T= (p.Leu927=)
c.2536T= (p.Leu846=)
3g.47848696T>ACA352591684DHX30c.2648T>A (p.Leu883Ter)
c.2564T>A (p.Leu855Ter)
c.*2548T>A (n.*2548T>A)
c.2732T>A (p.Leu911Ter)
n.765T>A
c.2531T>A (p.Leu844Ter)
c.2552T>A (p.Leu851Ter)
c.2861T>A (p.Leu954Ter)
c.2750T>A (p.Leu917Ter)
c.2780T>A (p.Leu927Ter)
c.2537T>A (p.Leu846Ter)
3g.47848696T>CCA352591686DHX30c.2648T>C (p.Leu883Ser)
c.2564T>C (p.Leu855Ser)
c.*2548T>C (n.*2548T>C)
c.2732T>C (p.Leu911Ser)
n.765T>C
c.2531T>C (p.Leu844Ser)
c.2552T>C (p.Leu851Ser)
c.2861T>C (p.Leu954Ser)
c.2750T>C (p.Leu917Ser)
c.2780T>C (p.Leu927Ser)
c.2537T>C (p.Leu846Ser)
3g.47848696T>GCA352591687DHX30c.2648T>G (p.Leu883Trp)
c.2564T>G (p.Leu855Trp)
c.*2548T>G (n.*2548T>G)
c.2732T>G (p.Leu911Trp)
n.765T>G
c.2531T>G (p.Leu844Trp)
c.2552T>G (p.Leu851Trp)
c.2861T>G (p.Leu954Trp)
c.2750T>G (p.Leu917Trp)
c.2780T>G (p.Leu927Trp)
c.2537T>G (p.Leu846Trp)
3g.47848697G>ACA433608977DHX30c.2649G>A (p.Leu883=)
c.2565G>A (p.Leu855=)
c.*2549G>A (n.*2549G>A)
c.2733G>A (p.Leu911=)
n.766G>A
c.2532G>A (p.Leu844=)
c.2553G>A (p.Leu851=)
c.2862G>A (p.Leu954=)
c.2751G>A (p.Leu917=)
c.2781G>A (p.Leu927=)
c.2538G>A (p.Leu846=)
3g.47848697G>CCA352591688DHX30c.2649G>C (p.Leu883Phe)
c.2565G>C (p.Leu855Phe)
c.*2549G>C (n.*2549G>C)
c.2733G>C (p.Leu911Phe)
n.766G>C
c.2532G>C (p.Leu844Phe)
c.2553G>C (p.Leu851Phe)
c.2862G>C (p.Leu954Phe)
c.2751G>C (p.Leu917Phe)
c.2781G>C (p.Leu927Phe)
c.2538G>C (p.Leu846Phe)
3g.47848697G>TCA352591689DHX30c.2649G>T (p.Leu883Phe)
c.2565G>T (p.Leu855Phe)
c.*2549G>T (n.*2549G>T)
c.2733G>T (p.Leu911Phe)
n.766G>T
c.2532G>T (p.Leu844Phe)
c.2553G>T (p.Leu851Phe)
c.2862G>T (p.Leu954Phe)
c.2751G>T (p.Leu917Phe)
c.2781G>T (p.Leu927Phe)
c.2538G>T (p.Leu846Phe)
3g.47848698G>ACA352591695DHX30c.2650G>A (p.Ala884Thr)
c.2566G>A (p.Ala856Thr)
c.*2550G>A (n.*2550G>A)
c.2734G>A (p.Ala912Thr)
n.767G>A
c.2533G>A (p.Ala845Thr)
c.2554G>A (p.Ala852Thr)
c.2863G>A (p.Ala955Thr)
c.2752G>A (p.Ala918Thr)
c.2782G>A (p.Ala928Thr)
c.2539G>A (p.Ala847Thr)
3g.47848698G>CCA352591693DHX30c.2650G>C (p.Ala884Pro)
c.2566G>C (p.Ala856Pro)
c.*2550G>C (n.*2550G>C)
c.2734G>C (p.Ala912Pro)
n.767G>C
c.2533G>C (p.Ala845Pro)
c.2554G>C (p.Ala852Pro)
c.2863G>C (p.Ala955Pro)
c.2752G>C (p.Ala918Pro)
c.2782G>C (p.Ala928Pro)
c.2539G>C (p.Ala847Pro)
3g.47848698G>TCA352591691DHX30c.2650G>T (p.Ala884Ser)
c.2566G>T (p.Ala856Ser)
c.*2550G>T (n.*2550G>T)
c.2734G>T (p.Ala912Ser)
n.767G>T
c.2533G>T (p.Ala845Ser)
c.2554G>T (p.Ala852Ser)
c.2863G>T (p.Ala955Ser)
c.2752G>T (p.Ala918Ser)
c.2782G>T (p.Ala928Ser)
c.2539G>T (p.Ala847Ser)
3g.47848699C>ACA352591698DHX30c.2651C>A (p.Ala884Asp)
c.2567C>A (p.Ala856Asp)
c.*2551C>A (n.*2551C>A)
c.2735C>A (p.Ala912Asp)
n.768C>A
c.2534C>A (p.Ala845Asp)
c.2555C>A (p.Ala852Asp)
c.2864C>A (p.Ala955Asp)
c.2753C>A (p.Ala918Asp)
c.2783C>A (p.Ala928Asp)
c.2540C>A (p.Ala847Asp)
3g.47848699C>GCA352591699DHX30c.2651C>G (p.Ala884Gly)
c.2567C>G (p.Ala856Gly)
c.*2551C>G (n.*2551C>G)
c.2735C>G (p.Ala912Gly)
n.768C>G
c.2534C>G (p.Ala845Gly)
c.2555C>G (p.Ala852Gly)
c.2864C>G (p.Ala955Gly)
c.2753C>G (p.Ala918Gly)
c.2783C>G (p.Ala928Gly)
c.2540C>G (p.Ala847Gly)
 gnomAD v4
3g.47848699C>TCA352591701DHX30c.2651C>T (p.Ala884Val)
c.2567C>T (p.Ala856Val)
c.*2551C>T (n.*2551C>T)
c.2735C>T (p.Ala912Val)
n.768C>T
c.2534C>T (p.Ala845Val)
c.2555C>T (p.Ala852Val)
c.2864C>T (p.Ala955Val)
c.2753C>T (p.Ala918Val)
c.2783C>T (p.Ala928Val)
c.2540C>T (p.Ala847Val)
3g.47848700C>ACA433608983DHX30c.2652C>A (p.Ala884=)
c.2568C>A (p.Ala856=)
c.*2552C>A (n.*2552C>A)
c.2736C>A (p.Ala912=)
n.769C>A
c.2535C>A (p.Ala845=)
c.2556C>A (p.Ala852=)
c.2865C>A (p.Ala955=)
c.2754C>A (p.Ala918=)
c.2784C>A (p.Ala928=)
c.2541C>A (p.Ala847=)
3g.47848700C>GCA433608984DHX30c.2652C>G (p.Ala884=)
c.2568C>G (p.Ala856=)
c.*2552C>G (n.*2552C>G)
c.2736C>G (p.Ala912=)
n.769C>G
c.2535C>G (p.Ala845=)
c.2556C>G (p.Ala852=)
c.2865C>G (p.Ala955=)
c.2754C>G (p.Ala918=)
c.2784C>G (p.Ala928=)
c.2541C>G (p.Ala847=)
3g.47848700C>TCA433608982DHX30c.2652C>T (p.Ala884=)
c.2568C>T (p.Ala856=)
c.*2552C>T (n.*2552C>T)
c.2736C>T (p.Ala912=)
n.769C>T
c.2535C>T (p.Ala845=)
c.2556C>T (p.Ala852=)
c.2865C>T (p.Ala955=)
c.2754C>T (p.Ala918=)
c.2784C>T (p.Ala928=)
c.2541C>T (p.Ala847=)
3g.47848701A>CCA352591703DHX30c.2653A>C (p.Lys885Gln)
c.2569A>C (p.Lys857Gln)
c.*2553A>C (n.*2553A>C)
c.2737A>C (p.Lys913Gln)
n.770A>C
c.2536A>C (p.Lys846Gln)
c.2557A>C (p.Lys853Gln)
c.2866A>C (p.Lys956Gln)
c.2755A>C (p.Lys919Gln)
c.2785A>C (p.Lys929Gln)
c.2542A>C (p.Lys848Gln)
3g.47848701A>GCA352591705DHX30c.2653A>G (p.Lys885Glu)
c.2569A>G (p.Lys857Glu)
c.*2553A>G (n.*2553A>G)
c.2737A>G (p.Lys913Glu)
n.770A>G
c.2536A>G (p.Lys846Glu)
c.2557A>G (p.Lys853Glu)
c.2866A>G (p.Lys956Glu)
c.2755A>G (p.Lys919Glu)
c.2785A>G (p.Lys929Glu)
c.2542A>G (p.Lys848Glu)
3g.47848701A>TCA352591707DHX30c.2653A>T (p.Lys885Ter)
c.2569A>T (p.Lys857Ter)
c.*2553A>T (n.*2553A>T)
c.2737A>T (p.Lys913Ter)
n.770A>T
c.2536A>T (p.Lys846Ter)
c.2557A>T (p.Lys853Ter)
c.2866A>T (p.Lys956Ter)
c.2755A>T (p.Lys919Ter)
c.2785A>T (p.Lys929Ter)
c.2542A>T (p.Lys848Ter)
3g.47848702A>CCA352591709DHX30c.2654A>C (p.Lys885Thr)
c.2570A>C (p.Lys857Thr)
c.*2554A>C (n.*2554A>C)
c.2738A>C (p.Lys913Thr)
n.771A>C
c.2537A>C (p.Lys846Thr)
c.2558A>C (p.Lys853Thr)
c.2867A>C (p.Lys956Thr)
c.2756A>C (p.Lys919Thr)
c.2786A>C (p.Lys929Thr)
c.2543A>C (p.Lys848Thr)
3g.47848702A>GCA352591712DHX30c.2654A>G (p.Lys885Arg)
c.2570A>G (p.Lys857Arg)
c.*2554A>G (n.*2554A>G)
c.2738A>G (p.Lys913Arg)
n.771A>G
c.2537A>G (p.Lys846Arg)
c.2558A>G (p.Lys853Arg)
c.2867A>G (p.Lys956Arg)
c.2756A>G (p.Lys919Arg)
c.2786A>G (p.Lys929Arg)
c.2543A>G (p.Lys848Arg)
3g.47848702A>TCA352591710DHX30c.2654A>T (p.Lys885Met)
c.2570A>T (p.Lys857Met)
c.*2554A>T (n.*2554A>T)
c.2738A>T (p.Lys913Met)
n.771A>T
c.2537A>T (p.Lys846Met)
c.2558A>T (p.Lys853Met)
c.2867A>T (p.Lys956Met)
c.2756A>T (p.Lys919Met)
c.2786A>T (p.Lys929Met)
c.2543A>T (p.Lys848Met)
3g.47848703G>ACA73899536DHX30c.2655G>A (p.Lys885=)
c.2571G>A (p.Lys857=)
c.*2555G>A (n.*2555G>A)
c.2739G>A (p.Lys913=)
n.772G>A
c.2538G>A (p.Lys846=)
c.2559G>A (p.Lys853=)
c.2868G>A (p.Lys956=)
c.2757G>A (p.Lys919=)
c.2787G>A (p.Lys929=)
c.2544G>A (p.Lys848=)
 dbSNP gnomAD v2 gnomAD v4
3g.47848703G>CCA352591716DHX30c.2655G>C (p.Lys885Asn)
c.2571G>C (p.Lys857Asn)
c.*2555G>C (n.*2555G>C)
c.2739G>C (p.Lys913Asn)
n.772G>C
c.2538G>C (p.Lys846Asn)
c.2559G>C (p.Lys853Asn)
c.2868G>C (p.Lys956Asn)
c.2757G>C (p.Lys919Asn)
c.2787G>C (p.Lys929Asn)
c.2544G>C (p.Lys848Asn)
3g.47848703G=CA1362750421DHX30c.2655G= (p.Lys885=)
c.2571G= (p.Lys857=)
c.*2555G= (n.*2555G=)
c.2739G= (p.Lys913=)
n.772G=
c.2538G= (p.Lys846=)
c.2559G= (p.Lys853=)
c.2868G= (p.Lys956=)
c.2757G= (p.Lys919=)
c.2787G= (p.Lys929=)
c.2544G= (p.Lys848=)
3g.47848703G>TCA352591718DHX30c.2655G>T (p.Lys885Asn)
c.2571G>T (p.Lys857Asn)
c.*2555G>T (n.*2555G>T)
c.2739G>T (p.Lys913Asn)
n.772G>T
c.2538G>T (p.Lys846Asn)
c.2559G>T (p.Lys853Asn)
c.2868G>T (p.Lys956Asn)
c.2757G>T (p.Lys919Asn)
c.2787G>T (p.Lys929Asn)
c.2544G>T (p.Lys848Asn)
3g.47848704G>ACA352591721DHX30c.2656G>A (p.Ala886Thr)
c.2572G>A (p.Ala858Thr)
c.*2556G>A (n.*2556G>A)
c.2740G>A (p.Ala914Thr)
n.773G>A
c.2539G>A (p.Ala847Thr)
c.2560G>A (p.Ala854Thr)
c.2869G>A (p.Ala957Thr)
c.2758G>A (p.Ala920Thr)
c.2788G>A (p.Ala930Thr)
c.2545G>A (p.Ala849Thr)
3g.47848704G>CCA352591723DHX30c.2656G>C (p.Ala886Pro)
c.2572G>C (p.Ala858Pro)
c.*2556G>C (n.*2556G>C)
c.2740G>C (p.Ala914Pro)
n.773G>C
c.2539G>C (p.Ala847Pro)
c.2560G>C (p.Ala854Pro)
c.2869G>C (p.Ala957Pro)
c.2758G>C (p.Ala920Pro)
c.2788G>C (p.Ala930Pro)
c.2545G>C (p.Ala849Pro)
3g.47848704G>TCA352591725DHX30c.2656G>T (p.Ala886Ser)
c.2572G>T (p.Ala858Ser)
c.*2556G>T (n.*2556G>T)
c.2740G>T (p.Ala914Ser)
n.773G>T
c.2539G>T (p.Ala847Ser)
c.2560G>T (p.Ala854Ser)
c.2869G>T (p.Ala957Ser)
c.2758G>T (p.Ala920Ser)
c.2788G>T (p.Ala930Ser)
c.2545G>T (p.Ala849Ser)
 gnomAD v4
3g.47848705C>ACA352591727DHX30c.2657C>A (p.Ala886Asp)
c.2573C>A (p.Ala858Asp)
c.*2557C>A (n.*2557C>A)
c.2741C>A (p.Ala914Asp)
n.774C>A
c.2540C>A (p.Ala847Asp)
c.2561C>A (p.Ala854Asp)
c.2870C>A (p.Ala957Asp)
c.2759C>A (p.Ala920Asp)
c.2789C>A (p.Ala930Asp)
c.2546C>A (p.Ala849Asp)
3g.47848705C>GCA352591729DHX30c.2657C>G (p.Ala886Gly)
c.2573C>G (p.Ala858Gly)
c.*2557C>G (n.*2557C>G)
c.2741C>G (p.Ala914Gly)
n.774C>G
c.2540C>G (p.Ala847Gly)
c.2561C>G (p.Ala854Gly)
c.2870C>G (p.Ala957Gly)
c.2759C>G (p.Ala920Gly)
c.2789C>G (p.Ala930Gly)
c.2546C>G (p.Ala849Gly)
3g.47848705C>TCA352591730DHX30c.2657C>T (p.Ala886Val)
c.2573C>T (p.Ala858Val)
c.*2557C>T (n.*2557C>T)
c.2741C>T (p.Ala914Val)
n.774C>T
c.2540C>T (p.Ala847Val)
c.2561C>T (p.Ala854Val)
c.2870C>T (p.Ala957Val)
c.2759C>T (p.Ala920Val)
c.2789C>T (p.Ala930Val)
c.2546C>T (p.Ala849Val)
 COSMIC
3g.47848706C>ACA433608996DHX30c.2658C>A (p.Ala886=)
c.2574C>A (p.Ala858=)
c.*2558C>A (n.*2558C>A)
c.2742C>A (p.Ala914=)
n.775C>A
c.2541C>A (p.Ala847=)
c.2562C>A (p.Ala854=)
c.2871C>A (p.Ala957=)
c.2760C>A (p.Ala920=)
c.2790C>A (p.Ala930=)
c.2547C>A (p.Ala849=)
3g.47848706C>GCA433608999DHX30c.2658C>G (p.Ala886=)
c.2574C>G (p.Ala858=)
c.*2558C>G (n.*2558C>G)
c.2742C>G (p.Ala914=)
n.775C>G
c.2541C>G (p.Ala847=)
c.2562C>G (p.Ala854=)
c.2871C>G (p.Ala957=)
c.2760C>G (p.Ala920=)
c.2790C>G (p.Ala930=)
c.2547C>G (p.Ala849=)
3g.47848706C>TCA433608997DHX30c.2658C>T (p.Ala886=)
c.2574C>T (p.Ala858=)
c.*2558C>T (n.*2558C>T)
c.2742C>T (p.Ala914=)
n.775C>T
c.2541C>T (p.Ala847=)
c.2562C>T (p.Ala854=)
c.2871C>T (p.Ala957=)
c.2760C>T (p.Ala920=)
c.2790C>T (p.Ala930=)
c.2547C>T (p.Ala849=)
3g.47848707A=CA1362750422DHX30c.2659A= (p.Ile887=)
c.2575A= (p.Ile859=)
c.*2559A= (n.*2559A=)
c.2743A= (p.Ile915=)
n.776A=
c.2542A= (p.Ile848=)
c.2563A= (p.Ile855=)
c.2872A= (p.Ile958=)
c.2761A= (p.Ile921=)
c.2791A= (p.Ile931=)
c.2548A= (p.Ile850=)
3g.47848707A>CCA352591731DHX30c.2659A>C (p.Ile887Leu)
c.2575A>C (p.Ile859Leu)
c.*2559A>C (n.*2559A>C)
c.2743A>C (p.Ile915Leu)
n.776A>C
c.2542A>C (p.Ile848Leu)
c.2563A>C (p.Ile855Leu)
c.2872A>C (p.Ile958Leu)
c.2761A>C (p.Ile921Leu)
c.2791A>C (p.Ile931Leu)
c.2548A>C (p.Ile850Leu)
 gnomAD v4
3g.47848707A>GCA2370190DHX30c.2659A>G (p.Ile887Val)
c.2575A>G (p.Ile859Val)
c.*2559A>G (n.*2559A>G)
c.2743A>G (p.Ile915Val)
n.776A>G
c.2542A>G (p.Ile848Val)
c.2563A>G (p.Ile855Val)
c.2872A>G (p.Ile958Val)
c.2761A>G (p.Ile921Val)
c.2791A>G (p.Ile931Val)
c.2548A>G (p.Ile850Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848707A>TCA352591732DHX30c.2659A>T (p.Ile887Phe)
c.2575A>T (p.Ile859Phe)
c.*2559A>T (n.*2559A>T)
c.2743A>T (p.Ile915Phe)
n.776A>T
c.2542A>T (p.Ile848Phe)
c.2563A>T (p.Ile855Phe)
c.2872A>T (p.Ile958Phe)
c.2761A>T (p.Ile921Phe)
c.2791A>T (p.Ile931Phe)
c.2548A>T (p.Ile850Phe)
3g.47848708T>ACA352591738DHX30c.2660T>A (p.Ile887Asn)
c.2576T>A (p.Ile859Asn)
c.*2560T>A (n.*2560T>A)
c.2744T>A (p.Ile915Asn)
n.777T>A
c.2543T>A (p.Ile848Asn)
c.2564T>A (p.Ile855Asn)
c.2873T>A (p.Ile958Asn)
c.2762T>A (p.Ile921Asn)
c.2792T>A (p.Ile931Asn)
c.2549T>A (p.Ile850Asn)
3g.47848708T>CCA352591736DHX30c.2660T>C (p.Ile887Thr)
c.2576T>C (p.Ile859Thr)
c.*2560T>C (n.*2560T>C)
c.2744T>C (p.Ile915Thr)
n.777T>C
c.2543T>C (p.Ile848Thr)
c.2564T>C (p.Ile855Thr)
c.2873T>C (p.Ile958Thr)
c.2762T>C (p.Ile921Thr)
c.2792T>C (p.Ile931Thr)
c.2549T>C (p.Ile850Thr)
3g.47848708T>GCA352591734DHX30c.2660T>G (p.Ile887Ser)
c.2576T>G (p.Ile859Ser)
c.*2560T>G (n.*2560T>G)
c.2744T>G (p.Ile915Ser)
n.777T>G
c.2543T>G (p.Ile848Ser)
c.2564T>G (p.Ile855Ser)
c.2873T>G (p.Ile958Ser)
c.2762T>G (p.Ile921Ser)
c.2792T>G (p.Ile931Ser)
c.2549T>G (p.Ile850Ser)
3g.47848709T>ACA433609005DHX30c.2661T>A (p.Ile887=)
c.2577T>A (p.Ile859=)
c.*2561T>A (n.*2561T>A)
c.2745T>A (p.Ile915=)
n.778T>A
c.2544T>A (p.Ile848=)
c.2565T>A (p.Ile855=)
c.2874T>A (p.Ile958=)
c.2763T>A (p.Ile921=)
c.2793T>A (p.Ile931=)
c.2550T>A (p.Ile850=)
3g.47848709T>CCA433609006DHX30c.2661T>C (p.Ile887=)
c.2577T>C (p.Ile859=)
c.*2561T>C (n.*2561T>C)
c.2745T>C (p.Ile915=)
n.778T>C
c.2544T>C (p.Ile848=)
c.2565T>C (p.Ile855=)
c.2874T>C (p.Ile958=)
c.2763T>C (p.Ile921=)
c.2793T>C (p.Ile931=)
c.2550T>C (p.Ile850=)
3g.47848709T>GCA352591740DHX30c.2661T>G (p.Ile887Met)
c.2577T>G (p.Ile859Met)
c.*2561T>G (n.*2561T>G)
c.2745T>G (p.Ile915Met)
n.778T>G
c.2544T>G (p.Ile848Met)
c.2565T>G (p.Ile855Met)
c.2874T>G (p.Ile958Met)
c.2763T>G (p.Ile921Met)
c.2793T>G (p.Ile931Met)
c.2550T>G (p.Ile850Met)
3g.47848710G>ACA352591743DHX30c.2662G>A (p.Val888Met)
c.2578G>A (p.Val860Met)
c.*2562G>A (n.*2562G>A)
c.2746G>A (p.Val916Met)
n.779G>A
c.2545G>A (p.Val849Met)
c.2566G>A (p.Val856Met)
c.2875G>A (p.Val959Met)
c.2764G>A (p.Val922Met)
c.2794G>A (p.Val932Met)
c.2551G>A (p.Val851Met)
3g.47848710G>CCA352591744DHX30c.2662G>C (p.Val888Leu)
c.2578G>C (p.Val860Leu)
c.*2562G>C (n.*2562G>C)
c.2746G>C (p.Val916Leu)
n.779G>C
c.2545G>C (p.Val849Leu)
c.2566G>C (p.Val856Leu)
c.2875G>C (p.Val959Leu)
c.2764G>C (p.Val922Leu)
c.2794G>C (p.Val932Leu)
c.2551G>C (p.Val851Leu)
3g.47848710G>TCA352591745DHX30c.2662G>T (p.Val888Leu)
c.2578G>T (p.Val860Leu)
c.*2562G>T (n.*2562G>T)
c.2746G>T (p.Val916Leu)
n.779G>T
c.2545G>T (p.Val849Leu)
c.2566G>T (p.Val856Leu)
c.2875G>T (p.Val959Leu)
c.2764G>T (p.Val922Leu)
c.2794G>T (p.Val932Leu)
c.2551G>T (p.Val851Leu)
3g.47848711T>ACA352591746DHX30c.2663T>A (p.Val888Glu)
c.2579T>A (p.Val860Glu)
c.*2563T>A (n.*2563T>A)
c.2747T>A (p.Val916Glu)
n.780T>A
c.2546T>A (p.Val849Glu)
c.2567T>A (p.Val856Glu)
c.2876T>A (p.Val959Glu)
c.2765T>A (p.Val922Glu)
c.2795T>A (p.Val932Glu)
c.2552T>A (p.Val851Glu)
3g.47848711T>CCA352591748DHX30c.2663T>C (p.Val888Ala)
c.2579T>C (p.Val860Ala)
c.*2563T>C (n.*2563T>C)
c.2747T>C (p.Val916Ala)
n.780T>C
c.2546T>C (p.Val849Ala)
c.2567T>C (p.Val856Ala)
c.2876T>C (p.Val959Ala)
c.2765T>C (p.Val922Ala)
c.2795T>C (p.Val932Ala)
c.2552T>C (p.Val851Ala)
3g.47848711T>GCA352591749DHX30c.2663T>G (p.Val888Gly)
c.2579T>G (p.Val860Gly)
c.*2563T>G (n.*2563T>G)
c.2747T>G (p.Val916Gly)
n.780T>G
c.2546T>G (p.Val849Gly)
c.2567T>G (p.Val856Gly)
c.2876T>G (p.Val959Gly)
c.2765T>G (p.Val922Gly)
c.2795T>G (p.Val932Gly)
c.2552T>G (p.Val851Gly)
3g.47848712G>ACA433609011DHX30c.2664G>A (p.Val888=)
c.2580G>A (p.Val860=)
c.*2564G>A (n.*2564G>A)
c.2748G>A (p.Val916=)
n.781G>A
c.2547G>A (p.Val849=)
c.2568G>A (p.Val856=)
c.2877G>A (p.Val959=)
c.2766G>A (p.Val922=)
c.2796G>A (p.Val932=)
c.2553G>A (p.Val851=)
3g.47848712G>CCA433609013DHX30c.2664G>C (p.Val888=)
c.2580G>C (p.Val860=)
c.*2564G>C (n.*2564G>C)
c.2748G>C (p.Val916=)
n.781G>C
c.2547G>C (p.Val849=)
c.2568G>C (p.Val856=)
c.2877G>C (p.Val959=)
c.2766G>C (p.Val922=)
c.2796G>C (p.Val932=)
c.2553G>C (p.Val851=)
3g.47848712G=CA1362750423DHX30c.2664G= (p.Val888=)
c.2580G= (p.Val860=)
c.*2564G= (n.*2564G=)
c.2748G= (p.Val916=)
n.781G=
c.2547G= (p.Val849=)
c.2568G= (p.Val856=)
c.2877G= (p.Val959=)
c.2766G= (p.Val922=)
c.2796G= (p.Val932=)
c.2553G= (p.Val851=)
3g.47848712G>TCA2370191DHX30c.2664G>T (p.Val888=)
c.2580G>T (p.Val860=)
c.*2564G>T (n.*2564G>T)
c.2748G>T (p.Val916=)
n.781G>T
c.2547G>T (p.Val849=)
c.2568G>T (p.Val856=)
c.2877G>T (p.Val959=)
c.2766G>T (p.Val922=)
c.2796G>T (p.Val932=)
c.2553G>T (p.Val851=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848713T>ACA352591753DHX30c.2665T>A (p.Leu889Met)
c.2581T>A (p.Leu861Met)
c.*2565T>A (n.*2565T>A)
c.2749T>A (p.Leu917Met)
n.782T>A
c.2548T>A (p.Leu850Met)
c.2569T>A (p.Leu857Met)
c.2878T>A (p.Leu960Met)
c.2767T>A (p.Leu923Met)
c.2797T>A (p.Leu933Met)
c.2554T>A (p.Leu852Met)
3g.47848713T>CCA433609017DHX30c.2665T>C (p.Leu889=)
c.2581T>C (p.Leu861=)
c.*2565T>C (n.*2565T>C)
c.2749T>C (p.Leu917=)
n.782T>C
c.2548T>C (p.Leu850=)
c.2569T>C (p.Leu857=)
c.2878T>C (p.Leu960=)
c.2767T>C (p.Leu923=)
c.2797T>C (p.Leu933=)
c.2554T>C (p.Leu852=)
3g.47848713T>GCA352591755DHX30c.2665T>G (p.Leu889Val)
c.2581T>G (p.Leu861Val)
c.*2565T>G (n.*2565T>G)
c.2749T>G (p.Leu917Val)
n.782T>G
c.2548T>G (p.Leu850Val)
c.2569T>G (p.Leu857Val)
c.2878T>G (p.Leu960Val)
c.2767T>G (p.Leu923Val)
c.2797T>G (p.Leu933Val)
c.2554T>G (p.Leu852Val)
3g.47848714T>ACA352591757DHX30c.2666T>A (p.Leu889Ter)
c.2582T>A (p.Leu861Ter)
c.*2566T>A (n.*2566T>A)
c.2750T>A (p.Leu917Ter)
n.783T>A
c.2549T>A (p.Leu850Ter)
c.2570T>A (p.Leu857Ter)
c.2879T>A (p.Leu960Ter)
c.2768T>A (p.Leu923Ter)
c.2798T>A (p.Leu933Ter)
c.2555T>A (p.Leu852Ter)
3g.47848714T>CCA352591758DHX30c.2666T>C (p.Leu889Ser)
c.2582T>C (p.Leu861Ser)
c.*2566T>C (n.*2566T>C)
c.2750T>C (p.Leu917Ser)
n.783T>C
c.2549T>C (p.Leu850Ser)
c.2570T>C (p.Leu857Ser)
c.2879T>C (p.Leu960Ser)
c.2768T>C (p.Leu923Ser)
c.2798T>C (p.Leu933Ser)
c.2555T>C (p.Leu852Ser)
3g.47848714T>GCA352591760DHX30c.2666T>G (p.Leu889Trp)
c.2582T>G (p.Leu861Trp)
c.*2566T>G (n.*2566T>G)
c.2750T>G (p.Leu917Trp)
n.783T>G
c.2549T>G (p.Leu850Trp)
c.2570T>G (p.Leu857Trp)
c.2879T>G (p.Leu960Trp)
c.2768T>G (p.Leu923Trp)
c.2798T>G (p.Leu933Trp)
c.2555T>G (p.Leu852Trp)
3g.47848715G>ACA433609023DHX30c.2667G>A (p.Leu889=)
c.2583G>A (p.Leu861=)
c.*2567G>A (n.*2567G>A)
c.2751G>A (p.Leu917=)
n.784G>A
c.2550G>A (p.Leu850=)
c.2571G>A (p.Leu857=)
c.2880G>A (p.Leu960=)
c.2769G>A (p.Leu923=)
c.2799G>A (p.Leu933=)
c.2556G>A (p.Leu852=)
3g.47848715G>CCA352591762DHX30c.2667G>C (p.Leu889Phe)
c.2583G>C (p.Leu861Phe)
c.*2567G>C (n.*2567G>C)
c.2751G>C (p.Leu917Phe)
n.784G>C
c.2550G>C (p.Leu850Phe)
c.2571G>C (p.Leu857Phe)
c.2880G>C (p.Leu960Phe)
c.2769G>C (p.Leu923Phe)
c.2799G>C (p.Leu933Phe)
c.2556G>C (p.Leu852Phe)
3g.47848715G>TCA352591763DHX30c.2667G>T (p.Leu889Phe)
c.2583G>T (p.Leu861Phe)
c.*2567G>T (n.*2567G>T)
c.2751G>T (p.Leu917Phe)
n.784G>T
c.2550G>T (p.Leu850Phe)
c.2571G>T (p.Leu857Phe)
c.2880G>T (p.Leu960Phe)
c.2769G>T (p.Leu923Phe)
c.2799G>T (p.Leu933Phe)
c.2556G>T (p.Leu852Phe)
3g.47848716G>ACA352591765DHX30c.2668G>A (p.Ala890Thr)
c.2584G>A (p.Ala862Thr)
c.*2568G>A (n.*2568G>A)
c.2752G>A (p.Ala918Thr)
n.785G>A
c.2551G>A (p.Ala851Thr)
c.2572G>A (p.Ala858Thr)
c.2881G>A (p.Ala961Thr)
c.2770G>A (p.Ala924Thr)
c.2800G>A (p.Ala934Thr)
c.2557G>A (p.Ala853Thr)
3g.47848716G>CCA352591767DHX30c.2668G>C (p.Ala890Pro)
c.2584G>C (p.Ala862Pro)
c.*2568G>C (n.*2568G>C)
c.2752G>C (p.Ala918Pro)
n.785G>C
c.2551G>C (p.Ala851Pro)
c.2572G>C (p.Ala858Pro)
c.2881G>C (p.Ala961Pro)
c.2770G>C (p.Ala924Pro)
c.2800G>C (p.Ala934Pro)
c.2557G>C (p.Ala853Pro)
3g.47848716G=CA1362750424DHX30c.2668G= (p.Ala890=)
c.2584G= (p.Ala862=)
c.*2568G= (n.*2568G=)
c.2752G= (p.Ala918=)
n.785G=
c.2551G= (p.Ala851=)
c.2572G= (p.Ala858=)
c.2881G= (p.Ala961=)
c.2770G= (p.Ala924=)
c.2800G= (p.Ala934=)
c.2557G= (p.Ala853=)
3g.47848716G>TCA352591769DHX30c.2668G>T (p.Ala890Ser)
c.2584G>T (p.Ala862Ser)
c.*2568G>T (n.*2568G>T)
c.2752G>T (p.Ala918Ser)
n.785G>T
c.2551G>T (p.Ala851Ser)
c.2572G>T (p.Ala858Ser)
c.2881G>T (p.Ala961Ser)
c.2770G>T (p.Ala924Ser)
c.2800G>T (p.Ala934Ser)
c.2557G>T (p.Ala853Ser)
 dbSNP
3g.47848717C>ACA352591771DHX30c.2669C>A (p.Ala890Asp)
c.2585C>A (p.Ala862Asp)
c.*2569C>A (n.*2569C>A)
c.2753C>A (p.Ala918Asp)
n.786C>A
c.2552C>A (p.Ala851Asp)
c.2573C>A (p.Ala858Asp)
c.2882C>A (p.Ala961Asp)
c.2771C>A (p.Ala924Asp)
c.2801C>A (p.Ala934Asp)
c.2558C>A (p.Ala853Asp)
3g.47848717C>GCA352591772DHX30c.2669C>G (p.Ala890Gly)
c.2585C>G (p.Ala862Gly)
c.*2569C>G (n.*2569C>G)
c.2753C>G (p.Ala918Gly)
n.786C>G
c.2552C>G (p.Ala851Gly)
c.2573C>G (p.Ala858Gly)
c.2882C>G (p.Ala961Gly)
c.2771C>G (p.Ala924Gly)
c.2801C>G (p.Ala934Gly)
c.2558C>G (p.Ala853Gly)
3g.47848717C>TCA352591774DHX30c.2669C>T (p.Ala890Val)
c.2585C>T (p.Ala862Val)
c.*2569C>T (n.*2569C>T)
c.2753C>T (p.Ala918Val)
n.786C>T
c.2552C>T (p.Ala851Val)
c.2573C>T (p.Ala858Val)
c.2882C>T (p.Ala961Val)
c.2771C>T (p.Ala924Val)
c.2801C>T (p.Ala934Val)
c.2558C>T (p.Ala853Val)
3g.47848718T>ACA433609029DHX30c.2670T>A (p.Ala890=)
c.2586T>A (p.Ala862=)
c.*2570T>A (n.*2570T>A)
c.2754T>A (p.Ala918=)
n.787T>A
c.2553T>A (p.Ala851=)
c.2574T>A (p.Ala858=)
c.2883T>A (p.Ala961=)
c.2772T>A (p.Ala924=)
c.2802T>A (p.Ala934=)
c.2559T>A (p.Ala853=)
3g.47848718T>CCA433609030DHX30c.2670T>C (p.Ala890=)
c.2586T>C (p.Ala862=)
c.*2570T>C (n.*2570T>C)
c.2754T>C (p.Ala918=)
n.787T>C
c.2553T>C (p.Ala851=)
c.2574T>C (p.Ala858=)
c.2883T>C (p.Ala961=)
c.2772T>C (p.Ala924=)
c.2802T>C (p.Ala934=)
c.2559T>C (p.Ala853=)
3g.47848718T>GCA433609031DHX30c.2670T>G (p.Ala890=)
c.2586T>G (p.Ala862=)
c.*2570T>G (n.*2570T>G)
c.2754T>G (p.Ala918=)
n.787T>G
c.2553T>G (p.Ala851=)
c.2574T>G (p.Ala858=)
c.2883T>G (p.Ala961=)
c.2772T>G (p.Ala924=)
c.2802T>G (p.Ala934=)
c.2559T>G (p.Ala853=)
3g.47848719G>ACA352591779DHX30c.2671G>A (p.Ala891Thr)
c.2587G>A (p.Ala863Thr)
c.*2571G>A (n.*2571G>A)
c.2755G>A (p.Ala919Thr)
n.788G>A
c.2554G>A (p.Ala852Thr)
c.2575G>A (p.Ala859Thr)
c.2884G>A (p.Ala962Thr)
c.2773G>A (p.Ala925Thr)
c.2803G>A (p.Ala935Thr)
c.2560G>A (p.Ala854Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.47848719G>CCA352591777DHX30c.2671G>C (p.Ala891Pro)
c.2587G>C (p.Ala863Pro)
c.*2571G>C (n.*2571G>C)
c.2755G>C (p.Ala919Pro)
n.788G>C
c.2554G>C (p.Ala852Pro)
c.2575G>C (p.Ala859Pro)
c.2884G>C (p.Ala962Pro)
c.2773G>C (p.Ala925Pro)
c.2803G>C (p.Ala935Pro)
c.2560G>C (p.Ala854Pro)
3g.47848719G=CA1362750425DHX30c.2671G= (p.Ala891=)
c.2587G= (p.Ala863=)
c.*2571G= (n.*2571G=)
c.2755G= (p.Ala919=)
n.788G=
c.2554G= (p.Ala852=)
c.2575G= (p.Ala859=)
c.2884G= (p.Ala962=)
c.2773G= (p.Ala925=)
c.2803G= (p.Ala935=)
c.2560G= (p.Ala854=)
3g.47848719G>TCA352591776DHX30c.2671G>T (p.Ala891Ser)
c.2587G>T (p.Ala863Ser)
c.*2571G>T (n.*2571G>T)
c.2755G>T (p.Ala919Ser)
n.788G>T
c.2554G>T (p.Ala852Ser)
c.2575G>T (p.Ala859Ser)
c.2884G>T (p.Ala962Ser)
c.2773G>T (p.Ala925Ser)
c.2803G>T (p.Ala935Ser)
c.2560G>T (p.Ala854Ser)
3g.47848720C>ACA352591782DHX30c.2672C>A (p.Ala891Asp)
c.2588C>A (p.Ala863Asp)
c.*2572C>A (n.*2572C>A)
c.2756C>A (p.Ala919Asp)
n.789C>A
c.2555C>A (p.Ala852Asp)
c.2576C>A (p.Ala859Asp)
c.2885C>A (p.Ala962Asp)
c.2774C>A (p.Ala925Asp)
c.2804C>A (p.Ala935Asp)
c.2561C>A (p.Ala854Asp)
3g.47848720C=CA1362750426DHX30c.2672C= (p.Ala891=)
c.2588C= (p.Ala863=)
c.*2572C= (n.*2572C=)
c.2756C= (p.Ala919=)
n.789C=
c.2555C= (p.Ala852=)
c.2576C= (p.Ala859=)
c.2885C= (p.Ala962=)
c.2774C= (p.Ala925=)
c.2804C= (p.Ala935=)
c.2561C= (p.Ala854=)
3g.47848720C>GCA352591784DHX30c.2672C>G (p.Ala891Gly)
c.2588C>G (p.Ala863Gly)
c.*2572C>G (n.*2572C>G)
c.2756C>G (p.Ala919Gly)
n.789C>G
c.2555C>G (p.Ala852Gly)
c.2576C>G (p.Ala859Gly)
c.2885C>G (p.Ala962Gly)
c.2774C>G (p.Ala925Gly)
c.2804C>G (p.Ala935Gly)
c.2561C>G (p.Ala854Gly)
3g.47848720C>TCA352591785DHX30c.2672C>T (p.Ala891Val)
c.2588C>T (p.Ala863Val)
c.*2572C>T (n.*2572C>T)
c.2756C>T (p.Ala919Val)
n.789C>T
c.2555C>T (p.Ala852Val)
c.2576C>T (p.Ala859Val)
c.2885C>T (p.Ala962Val)
c.2774C>T (p.Ala925Val)
c.2804C>T (p.Ala935Val)
c.2561C>T (p.Ala854Val)
 dbSNP gnomAD v2 gnomAD v4
3g.47848721C>ACA433609040DHX30c.2673C>A (p.Ala891=)
c.2589C>A (p.Ala863=)
c.*2573C>A (n.*2573C>A)
c.2757C>A (p.Ala919=)
n.790C>A
c.2556C>A (p.Ala852=)
c.2577C>A (p.Ala859=)
c.2886C>A (p.Ala962=)
c.2775C>A (p.Ala925=)
c.2805C>A (p.Ala935=)
c.2562C>A (p.Ala854=)
3g.47848721C>GCA433609041DHX30c.2673C>G (p.Ala891=)
c.2589C>G (p.Ala863=)
c.*2573C>G (n.*2573C>G)
c.2757C>G (p.Ala919=)
n.790C>G
c.2556C>G (p.Ala852=)
c.2577C>G (p.Ala859=)
c.2886C>G (p.Ala962=)
c.2775C>G (p.Ala925=)
c.2805C>G (p.Ala935=)
c.2562C>G (p.Ala854=)
3g.47848721C>TCA433609039DHX30c.2673C>T (p.Ala891=)
c.2589C>T (p.Ala863=)
c.*2573C>T (n.*2573C>T)
c.2757C>T (p.Ala919=)
n.790C>T
c.2556C>T (p.Ala852=)
c.2577C>T (p.Ala859=)
c.2886C>T (p.Ala962=)
c.2775C>T (p.Ala925=)
c.2805C>T (p.Ala935=)
c.2562C>T (p.Ala854=)
3g.47848722A=CA1362750427DHX30c.2674A= (p.Ile892=)
c.2590A= (p.Ile864=)
c.*2574A= (n.*2574A=)
c.2758A= (p.Ile920=)
n.791A=
c.2557A= (p.Ile853=)
c.2578A= (p.Ile860=)
c.2887A= (p.Ile963=)
c.2776A= (p.Ile926=)
c.2806A= (p.Ile936=)
c.2563A= (p.Ile855=)
3g.47848722A>CCA352591787DHX30c.2674A>C (p.Ile892Leu)
c.2590A>C (p.Ile864Leu)
c.*2574A>C (n.*2574A>C)
c.2758A>C (p.Ile920Leu)
n.791A>C
c.2557A>C (p.Ile853Leu)
c.2578A>C (p.Ile860Leu)
c.2887A>C (p.Ile963Leu)
c.2776A>C (p.Ile926Leu)
c.2806A>C (p.Ile936Leu)
c.2563A>C (p.Ile855Leu)
 dbSNP
3g.47848722A>GCA2370192DHX30c.2674A>G (p.Ile892Val)
c.2590A>G (p.Ile864Val)
c.*2574A>G (n.*2574A>G)
c.2758A>G (p.Ile920Val)
n.791A>G
c.2557A>G (p.Ile853Val)
c.2578A>G (p.Ile860Val)
c.2887A>G (p.Ile963Val)
c.2776A>G (p.Ile926Val)
c.2806A>G (p.Ile936Val)
c.2563A>G (p.Ile855Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848722A>TCA352591790DHX30c.2674A>T (p.Ile892Phe)
c.2590A>T (p.Ile864Phe)
c.*2574A>T (n.*2574A>T)
c.2758A>T (p.Ile920Phe)
n.791A>T
c.2557A>T (p.Ile853Phe)
c.2578A>T (p.Ile860Phe)
c.2887A>T (p.Ile963Phe)
c.2776A>T (p.Ile926Phe)
c.2806A>T (p.Ile936Phe)
c.2563A>T (p.Ile855Phe)
3g.47848723T>ACA352591792DHX30c.2675T>A (p.Ile892Asn)
c.2591T>A (p.Ile864Asn)
c.*2575T>A (n.*2575T>A)
c.2759T>A (p.Ile920Asn)
n.792T>A
c.2558T>A (p.Ile853Asn)
c.2579T>A (p.Ile860Asn)
c.2888T>A (p.Ile963Asn)
c.2777T>A (p.Ile926Asn)
c.2807T>A (p.Ile936Asn)
c.2564T>A (p.Ile855Asn)
3g.47848723T>CCA352591796DHX30c.2675T>C (p.Ile892Thr)
c.2591T>C (p.Ile864Thr)
c.*2575T>C (n.*2575T>C)
c.2759T>C (p.Ile920Thr)
n.792T>C
c.2558T>C (p.Ile853Thr)
c.2579T>C (p.Ile860Thr)
c.2888T>C (p.Ile963Thr)
c.2777T>C (p.Ile926Thr)
c.2807T>C (p.Ile936Thr)
c.2564T>C (p.Ile855Thr)
3g.47848723T>GCA352591794DHX30c.2675T>G (p.Ile892Ser)
c.2591T>G (p.Ile864Ser)
c.*2575T>G (n.*2575T>G)
c.2759T>G (p.Ile920Ser)
n.792T>G
c.2558T>G (p.Ile853Ser)
c.2579T>G (p.Ile860Ser)
c.2888T>G (p.Ile963Ser)
c.2777T>G (p.Ile926Ser)
c.2807T>G (p.Ile936Ser)
c.2564T>G (p.Ile855Ser)
3g.47848724C>ACA433609046DHX30c.2676C>A (p.Ile892=)
c.2592C>A (p.Ile864=)
c.*2576C>A (n.*2576C>A)
c.2760C>A (p.Ile920=)
n.793C>A
c.2559C>A (p.Ile853=)
c.2580C>A (p.Ile860=)
c.2889C>A (p.Ile963=)
c.2778C>A (p.Ile926=)
c.2808C>A (p.Ile936=)
c.2565C>A (p.Ile855=)
3g.47848724C>GCA352591798DHX30c.2676C>G (p.Ile892Met)
c.2592C>G (p.Ile864Met)
c.*2576C>G (n.*2576C>G)
c.2760C>G (p.Ile920Met)
n.793C>G
c.2559C>G (p.Ile853Met)
c.2580C>G (p.Ile860Met)
c.2889C>G (p.Ile963Met)
c.2778C>G (p.Ile926Met)
c.2808C>G (p.Ile936Met)
c.2565C>G (p.Ile855Met)
3g.47848724C>TCA433609050DHX30c.2676C>T (p.Ile892=)
c.2592C>T (p.Ile864=)
c.*2576C>T (n.*2576C>T)
c.2760C>T (p.Ile920=)
n.793C>T
c.2559C>T (p.Ile853=)
c.2580C>T (p.Ile860=)
c.2889C>T (p.Ile963=)
c.2778C>T (p.Ile926=)
c.2808C>T (p.Ile936=)
c.2565C>T (p.Ile855=)
 gnomAD v4
3g.47848725T>ACA352591800DHX30c.2677T>A (p.Phe893Ile)
c.2593T>A (p.Phe865Ile)
c.*2577T>A (n.*2577T>A)
c.2761T>A (p.Phe921Ile)
n.794T>A
c.2560T>A (p.Phe854Ile)
c.2581T>A (p.Phe861Ile)
c.2890T>A (p.Phe964Ile)
c.2779T>A (p.Phe927Ile)
c.2809T>A (p.Phe937Ile)
c.2566T>A (p.Phe856Ile)
3g.47848725T>CCA352591802DHX30c.2677T>C (p.Phe893Leu)
c.2593T>C (p.Phe865Leu)
c.*2577T>C (n.*2577T>C)
c.2761T>C (p.Phe921Leu)
n.794T>C
c.2560T>C (p.Phe854Leu)
c.2581T>C (p.Phe861Leu)
c.2890T>C (p.Phe964Leu)
c.2779T>C (p.Phe927Leu)
c.2809T>C (p.Phe937Leu)
c.2566T>C (p.Phe856Leu)
3g.47848725T>GCA352591804DHX30c.2677T>G (p.Phe893Val)
c.2593T>G (p.Phe865Val)
c.*2577T>G (n.*2577T>G)
c.2761T>G (p.Phe921Val)
n.794T>G
c.2560T>G (p.Phe854Val)
c.2581T>G (p.Phe861Val)
c.2890T>G (p.Phe964Val)
c.2779T>G (p.Phe927Val)
c.2809T>G (p.Phe937Val)
c.2566T>G (p.Phe856Val)
3g.47848726T>ACA352591806DHX30c.2678T>A (p.Phe893Tyr)
c.2594T>A (p.Phe865Tyr)
c.*2578T>A (n.*2578T>A)
c.2762T>A (p.Phe921Tyr)
n.795T>A
c.2561T>A (p.Phe854Tyr)
c.2582T>A (p.Phe861Tyr)
c.2891T>A (p.Phe964Tyr)
c.2780T>A (p.Phe927Tyr)
c.2810T>A (p.Phe937Tyr)
c.2567T>A (p.Phe856Tyr)
3g.47848726T>CCA352591808DHX30c.2678T>C (p.Phe893Ser)
c.2594T>C (p.Phe865Ser)
c.*2578T>C (n.*2578T>C)
c.2762T>C (p.Phe921Ser)
n.795T>C
c.2561T>C (p.Phe854Ser)
c.2582T>C (p.Phe861Ser)
c.2891T>C (p.Phe964Ser)
c.2780T>C (p.Phe927Ser)
c.2810T>C (p.Phe937Ser)
c.2567T>C (p.Phe856Ser)
3g.47848726T>GCA352591809DHX30c.2678T>G (p.Phe893Cys)
c.2594T>G (p.Phe865Cys)
c.*2578T>G (n.*2578T>G)
c.2762T>G (p.Phe921Cys)
n.795T>G
c.2561T>G (p.Phe854Cys)
c.2582T>G (p.Phe861Cys)
c.2891T>G (p.Phe964Cys)
c.2780T>G (p.Phe927Cys)
c.2810T>G (p.Phe937Cys)
c.2567T>G (p.Phe856Cys)
3g.47848727C>ACA352591811DHX30c.2679C>A (p.Phe893Leu)
c.2595C>A (p.Phe865Leu)
c.*2579C>A (n.*2579C>A)
c.2763C>A (p.Phe921Leu)
n.796C>A
c.2562C>A (p.Phe854Leu)
c.2583C>A (p.Phe861Leu)
c.2892C>A (p.Phe964Leu)
c.2781C>A (p.Phe927Leu)
c.2811C>A (p.Phe937Leu)
c.2568C>A (p.Phe856Leu)
 gnomAD v4
3g.47848727C>GCA352591813DHX30c.2679C>G (p.Phe893Leu)
c.2595C>G (p.Phe865Leu)
c.*2579C>G (n.*2579C>G)
c.2763C>G (p.Phe921Leu)
n.796C>G
c.2562C>G (p.Phe854Leu)
c.2583C>G (p.Phe861Leu)
c.2892C>G (p.Phe964Leu)
c.2781C>G (p.Phe927Leu)
c.2811C>G (p.Phe937Leu)
c.2568C>G (p.Phe856Leu)
3g.47848727C>TCA433609056DHX30c.2679C>T (p.Phe893=)
c.2595C>T (p.Phe865=)
c.*2579C>T (n.*2579C>T)
c.2763C>T (p.Phe921=)
n.796C>T
c.2562C>T (p.Phe854=)
c.2583C>T (p.Phe861=)
c.2892C>T (p.Phe964=)
c.2781C>T (p.Phe927=)
c.2811C>T (p.Phe937=)
c.2568C>T (p.Phe856=)
3g.47848728C>ACA352591815DHX30c.2680C>A (p.Arg894Ser)
c.2596C>A (p.Arg866Ser)
c.*2580C>A (n.*2580C>A)
c.2764C>A (p.Arg922Ser)
n.797C>A
c.2563C>A (p.Arg855Ser)
c.2584C>A (p.Arg862Ser)
c.2893C>A (p.Arg965Ser)
c.2782C>A (p.Arg928Ser)
c.2812C>A (p.Arg938Ser)
c.2569C>A (p.Arg857Ser)
3g.47848728C>GCA352591817DHX30c.2680C>G (p.Arg894Gly)
c.2596C>G (p.Arg866Gly)
c.*2580C>G (n.*2580C>G)
c.2764C>G (p.Arg922Gly)
n.797C>G
c.2563C>G (p.Arg855Gly)
c.2584C>G (p.Arg862Gly)
c.2893C>G (p.Arg965Gly)
c.2782C>G (p.Arg928Gly)
c.2812C>G (p.Arg938Gly)
c.2569C>G (p.Arg857Gly)
3g.47848728C>TCA352591820DHX30c.2680C>T (p.Arg894Cys)
c.2596C>T (p.Arg866Cys)
c.*2580C>T (n.*2580C>T)
c.2764C>T (p.Arg922Cys)
n.797C>T
c.2563C>T (p.Arg855Cys)
c.2584C>T (p.Arg862Cys)
c.2893C>T (p.Arg965Cys)
c.2782C>T (p.Arg928Cys)
c.2812C>T (p.Arg938Cys)
c.2569C>T (p.Arg857Cys)
 gnomAD v4
3g.47848729G>ACA352591823DHX30c.2681G>A (p.Arg894His)
c.2597G>A (p.Arg866His)
c.*2581G>A (n.*2581G>A)
c.2765G>A (p.Arg922His)
n.798G>A
c.2564G>A (p.Arg855His)
c.2585G>A (p.Arg862His)
c.2894G>A (p.Arg965His)
c.2783G>A (p.Arg928His)
c.2813G>A (p.Arg938His)
c.2570G>A (p.Arg857His)
3g.47848729G>CCA352591826DHX30c.2681G>C (p.Arg894Pro)
c.2597G>C (p.Arg866Pro)
c.*2581G>C (n.*2581G>C)
c.2765G>C (p.Arg922Pro)
n.798G>C
c.2564G>C (p.Arg855Pro)
c.2585G>C (p.Arg862Pro)
c.2894G>C (p.Arg965Pro)
c.2783G>C (p.Arg928Pro)
c.2813G>C (p.Arg938Pro)
c.2570G>C (p.Arg857Pro)
3g.47848729G>TCA352591824DHX30c.2681G>T (p.Arg894Leu)
c.2597G>T (p.Arg866Leu)
c.*2581G>T (n.*2581G>T)
c.2765G>T (p.Arg922Leu)
n.798G>T
c.2564G>T (p.Arg855Leu)
c.2585G>T (p.Arg862Leu)
c.2894G>T (p.Arg965Leu)
c.2783G>T (p.Arg928Leu)
c.2813G>T (p.Arg938Leu)
c.2570G>T (p.Arg857Leu)
3g.47848730T>ACA433609062DHX30c.2682T>A (p.Arg894=)
c.2598T>A (p.Arg866=)
c.*2582T>A (n.*2582T>A)
c.2766T>A (p.Arg922=)
n.799T>A
c.2565T>A (p.Arg855=)
c.2586T>A (p.Arg862=)
c.2895T>A (p.Arg965=)
c.2784T>A (p.Arg928=)
c.2814T>A (p.Arg938=)
c.2571T>A (p.Arg857=)
3g.47848730T>CCA2370193DHX30c.2682T>C (p.Arg894=)
c.2598T>C (p.Arg866=)
c.*2582T>C (n.*2582T>C)
c.2766T>C (p.Arg922=)
n.799T>C
c.2565T>C (p.Arg855=)
c.2586T>C (p.Arg862=)
c.2895T>C (p.Arg965=)
c.2784T>C (p.Arg928=)
c.2814T>C (p.Arg938=)
c.2571T>C (p.Arg857=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848730T>GCA433609063DHX30c.2682T>G (p.Arg894=)
c.2598T>G (p.Arg866=)
c.*2582T>G (n.*2582T>G)
c.2766T>G (p.Arg922=)
n.799T>G
c.2565T>G (p.Arg855=)
c.2586T>G (p.Arg862=)
c.2895T>G (p.Arg965=)
c.2784T>G (p.Arg928=)
c.2814T>G (p.Arg938=)
c.2571T>G (p.Arg857=)
3g.47848730T=CA1362750428DHX30c.2682T= (p.Arg894=)
c.2598T= (p.Arg866=)
c.*2582T= (n.*2582T=)
c.2766T= (p.Arg922=)
n.799T=
c.2565T= (p.Arg855=)
c.2586T= (p.Arg862=)
c.2895T= (p.Arg965=)
c.2784T= (p.Arg928=)
c.2814T= (p.Arg938=)
c.2571T= (p.Arg857=)
3g.47848731T>ACA352591828DHX30c.2683T>A (p.Cys895Ser)
c.2599T>A (p.Cys867Ser)
c.*2583T>A (n.*2583T>A)
c.2767T>A (p.Cys923Ser)
n.800T>A
c.2566T>A (p.Cys856Ser)
c.2587T>A (p.Cys863Ser)
c.2896T>A (p.Cys966Ser)
c.2785T>A (p.Cys929Ser)
c.2815T>A (p.Cys939Ser)
c.2572T>A (p.Cys858Ser)
3g.47848731T>CCA352591829DHX30c.2683T>C (p.Cys895Arg)
c.2599T>C (p.Cys867Arg)
c.*2583T>C (n.*2583T>C)
c.2767T>C (p.Cys923Arg)
n.800T>C
c.2566T>C (p.Cys856Arg)
c.2587T>C (p.Cys863Arg)
c.2896T>C (p.Cys966Arg)
c.2785T>C (p.Cys929Arg)
c.2815T>C (p.Cys939Arg)
c.2572T>C (p.Cys858Arg)
3g.47848731T>GCA352591830DHX30c.2683T>G (p.Cys895Gly)
c.2599T>G (p.Cys867Gly)
c.*2583T>G (n.*2583T>G)
c.2767T>G (p.Cys923Gly)
n.800T>G
c.2566T>G (p.Cys856Gly)
c.2587T>G (p.Cys863Gly)
c.2896T>G (p.Cys966Gly)
c.2785T>G (p.Cys929Gly)
c.2815T>G (p.Cys939Gly)
c.2572T>G (p.Cys858Gly)
3g.47848732G>ACA352591831DHX30c.2684G>A (p.Cys895Tyr)
c.2600G>A (p.Cys867Tyr)
c.*2584G>A (n.*2584G>A)
c.2768G>A (p.Cys923Tyr)
n.801G>A
c.2567G>A (p.Cys856Tyr)
c.2588G>A (p.Cys863Tyr)
c.2897G>A (p.Cys966Tyr)
c.2786G>A (p.Cys929Tyr)
c.2816G>A (p.Cys939Tyr)
c.2573G>A (p.Cys858Tyr)
3g.47848732G>CCA352591832DHX30c.2684G>C (p.Cys895Ser)
c.2600G>C (p.Cys867Ser)
c.*2584G>C (n.*2584G>C)
c.2768G>C (p.Cys923Ser)
n.801G>C
c.2567G>C (p.Cys856Ser)
c.2588G>C (p.Cys863Ser)
c.2897G>C (p.Cys966Ser)
c.2786G>C (p.Cys929Ser)
c.2816G>C (p.Cys939Ser)
c.2573G>C (p.Cys858Ser)
3g.47848732G>TCA352591833DHX30c.2684G>T (p.Cys895Phe)
c.2600G>T (p.Cys867Phe)
c.*2584G>T (n.*2584G>T)
c.2768G>T (p.Cys923Phe)
n.801G>T
c.2567G>T (p.Cys856Phe)
c.2588G>T (p.Cys863Phe)
c.2897G>T (p.Cys966Phe)
c.2786G>T (p.Cys929Phe)
c.2816G>T (p.Cys939Phe)
c.2573G>T (p.Cys858Phe)
3g.47848733C>ACA352591834DHX30c.2685C>A (p.Cys895Ter)
c.2601C>A (p.Cys867Ter)
c.*2585C>A (n.*2585C>A)
c.2769C>A (p.Cys923Ter)
n.802C>A
c.2568C>A (p.Cys856Ter)
c.2589C>A (p.Cys863Ter)
c.2898C>A (p.Cys966Ter)
c.2787C>A (p.Cys929Ter)
c.2817C>A (p.Cys939Ter)
c.2574C>A (p.Cys858Ter)
3g.47848733C>GCA352591838DHX30c.2685C>G (p.Cys895Trp)
c.2601C>G (p.Cys867Trp)
c.*2585C>G (n.*2585C>G)
c.2769C>G (p.Cys923Trp)
n.802C>G
c.2568C>G (p.Cys856Trp)
c.2589C>G (p.Cys863Trp)
c.2898C>G (p.Cys966Trp)
c.2787C>G (p.Cys929Trp)
c.2817C>G (p.Cys939Trp)
c.2574C>G (p.Cys858Trp)
3g.47848733C>TCA433609076DHX30c.2685C>T (p.Cys895=)
c.2601C>T (p.Cys867=)
c.*2585C>T (n.*2585C>T)
c.2769C>T (p.Cys923=)
n.802C>T
c.2568C>T (p.Cys856=)
c.2589C>T (p.Cys863=)
c.2898C>T (p.Cys966=)
c.2787C>T (p.Cys929=)
c.2817C>T (p.Cys939=)
c.2574C>T (p.Cys858=)
3g.47848734C>ACA352591841DHX30c.2686C>A (p.Leu896Met)
c.2602C>A (p.Leu868Met)
c.*2586C>A (n.*2586C>A)
c.2770C>A (p.Leu924Met)
n.803C>A
c.2569C>A (p.Leu857Met)
c.2590C>A (p.Leu864Met)
c.2899C>A (p.Leu967Met)
c.2788C>A (p.Leu930Met)
c.2818C>A (p.Leu940Met)
c.2575C>A (p.Leu859Met)
3g.47848734C=CA1362750429DHX30c.2686C= (p.Leu896=)
c.2602C= (p.Leu868=)
c.*2586C= (n.*2586C=)
c.2770C= (p.Leu924=)
n.803C=
c.2569C= (p.Leu857=)
c.2590C= (p.Leu864=)
c.2899C= (p.Leu967=)
c.2788C= (p.Leu930=)
c.2818C= (p.Leu940=)
c.2575C= (p.Leu859=)
3g.47848734C>GCA352591842DHX30c.2686C>G (p.Leu896Val)
c.2602C>G (p.Leu868Val)
c.*2586C>G (n.*2586C>G)
c.2770C>G (p.Leu924Val)
n.803C>G
c.2569C>G (p.Leu857Val)
c.2590C>G (p.Leu864Val)
c.2899C>G (p.Leu967Val)
c.2788C>G (p.Leu930Val)
c.2818C>G (p.Leu940Val)
c.2575C>G (p.Leu859Val)
 dbSNP gnomAD v4
3g.47848734C>TCA433609078DHX30c.2686C>T (p.Leu896=)
c.2602C>T (p.Leu868=)
c.*2586C>T (n.*2586C>T)
c.2770C>T (p.Leu924=)
n.803C>T
c.2569C>T (p.Leu857=)
c.2590C>T (p.Leu864=)
c.2899C>T (p.Leu967=)
c.2788C>T (p.Leu930=)
c.2818C>T (p.Leu940=)
c.2575C>T (p.Leu859=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848735T>ACA352591843DHX30c.2687T>A (p.Leu896Gln)
c.2603T>A (p.Leu868Gln)
c.*2587T>A (n.*2587T>A)
c.2771T>A (p.Leu924Gln)
n.804T>A
c.2570T>A (p.Leu857Gln)
c.2591T>A (p.Leu864Gln)
c.2900T>A (p.Leu967Gln)
c.2789T>A (p.Leu930Gln)
c.2819T>A (p.Leu940Gln)
c.2576T>A (p.Leu859Gln)
3g.47848735T>CCA352591845DHX30c.2687T>C (p.Leu896Pro)
c.2603T>C (p.Leu868Pro)
c.*2587T>C (n.*2587T>C)
c.2771T>C (p.Leu924Pro)
n.804T>C
c.2570T>C (p.Leu857Pro)
c.2591T>C (p.Leu864Pro)
c.2900T>C (p.Leu967Pro)
c.2789T>C (p.Leu930Pro)
c.2819T>C (p.Leu940Pro)
c.2576T>C (p.Leu859Pro)
3g.47848735T>GCA352591847DHX30c.2687T>G (p.Leu896Arg)
c.2603T>G (p.Leu868Arg)
c.*2587T>G (n.*2587T>G)
c.2771T>G (p.Leu924Arg)
n.804T>G
c.2570T>G (p.Leu857Arg)
c.2591T>G (p.Leu864Arg)
c.2900T>G (p.Leu967Arg)
c.2789T>G (p.Leu930Arg)
c.2819T>G (p.Leu940Arg)
c.2576T>G (p.Leu859Arg)
3g.47848736G>ACA433609083DHX30c.2688G>A (p.Leu896=)
c.2604G>A (p.Leu868=)
c.*2588G>A (n.*2588G>A)
c.2772G>A (p.Leu924=)
n.805G>A
c.2571G>A (p.Leu857=)
c.2592G>A (p.Leu864=)
c.2901G>A (p.Leu967=)
c.2790G>A (p.Leu930=)
c.2820G>A (p.Leu940=)
c.2577G>A (p.Leu859=)
3g.47848736G>CCA433609084DHX30c.2688G>C (p.Leu896=)
c.2604G>C (p.Leu868=)
c.*2588G>C (n.*2588G>C)
c.2772G>C (p.Leu924=)
n.805G>C
c.2571G>C (p.Leu857=)
c.2592G>C (p.Leu864=)
c.2901G>C (p.Leu967=)
c.2790G>C (p.Leu930=)
c.2820G>C (p.Leu940=)
c.2577G>C (p.Leu859=)
3g.47848736G>TCA433609085DHX30c.2688G>T (p.Leu896=)
c.2604G>T (p.Leu868=)
c.*2588G>T (n.*2588G>T)
c.2772G>T (p.Leu924=)
n.805G>T
c.2571G>T (p.Leu857=)
c.2592G>T (p.Leu864=)
c.2901G>T (p.Leu967=)
c.2790G>T (p.Leu930=)
c.2820G>T (p.Leu940=)
c.2577G>T (p.Leu859=)
3g.47848737C>ACA352591849DHX30c.2689C>A (p.His897Asn)
c.2605C>A (p.His869Asn)
c.*2589C>A (n.*2589C>A)
c.2773C>A (p.His925Asn)
n.806C>A
c.2572C>A (p.His858Asn)
c.2593C>A (p.His865Asn)
c.2902C>A (p.His968Asn)
c.2791C>A (p.His931Asn)
c.2821C>A (p.His941Asn)
c.2578C>A (p.His860Asn)
3g.47848737C>GCA352591852DHX30c.2689C>G (p.His897Asp)
c.2605C>G (p.His869Asp)
c.*2589C>G (n.*2589C>G)
c.2773C>G (p.His925Asp)
n.806C>G
c.2572C>G (p.His858Asp)
c.2593C>G (p.His865Asp)
c.2902C>G (p.His968Asp)
c.2791C>G (p.His931Asp)
c.2821C>G (p.His941Asp)
c.2578C>G (p.His860Asp)
3g.47848737C>TCA352591850DHX30c.2689C>T (p.His897Tyr)
c.2605C>T (p.His869Tyr)
c.*2589C>T (n.*2589C>T)
c.2773C>T (p.His925Tyr)
n.806C>T
c.2572C>T (p.His858Tyr)
c.2593C>T (p.His865Tyr)
c.2902C>T (p.His968Tyr)
c.2791C>T (p.His931Tyr)
c.2821C>T (p.His941Tyr)
c.2578C>T (p.His860Tyr)
 gnomAD v4
3g.47848738A>CCA352591854DHX30c.2690A>C (p.His897Pro)
c.2606A>C (p.His869Pro)
c.*2590A>C (n.*2590A>C)
c.2774A>C (p.His925Pro)
n.807A>C
c.2573A>C (p.His858Pro)
c.2594A>C (p.His865Pro)
c.2903A>C (p.His968Pro)
c.2792A>C (p.His931Pro)
c.2822A>C (p.His941Pro)
c.2579A>C (p.His860Pro)
3g.47848738A>GCA352591856DHX30c.2690A>G (p.His897Arg)
c.2606A>G (p.His869Arg)
c.*2590A>G (n.*2590A>G)
c.2774A>G (p.His925Arg)
n.807A>G
c.2573A>G (p.His858Arg)
c.2594A>G (p.His865Arg)
c.2903A>G (p.His968Arg)
c.2792A>G (p.His931Arg)
c.2822A>G (p.His941Arg)
c.2579A>G (p.His860Arg)
3g.47848738A>TCA352591858DHX30c.2690A>T (p.His897Leu)
c.2606A>T (p.His869Leu)
c.*2590A>T (n.*2590A>T)
c.2774A>T (p.His925Leu)
n.807A>T
c.2573A>T (p.His858Leu)
c.2594A>T (p.His865Leu)
c.2903A>T (p.His968Leu)
c.2792A>T (p.His931Leu)
c.2822A>T (p.His941Leu)
c.2579A>T (p.His860Leu)
3g.47848739C>ACA352591860DHX30c.2691C>A (p.His897Gln)
c.2607C>A (p.His869Gln)
c.*2591C>A (n.*2591C>A)
c.2775C>A (p.His925Gln)
n.808C>A
c.2574C>A (p.His858Gln)
c.2595C>A (p.His865Gln)
c.2904C>A (p.His968Gln)
c.2793C>A (p.His931Gln)
c.2823C>A (p.His941Gln)
c.2580C>A (p.His860Gln)
3g.47848739C>GCA352591862DHX30c.2691C>G (p.His897Gln)
c.2607C>G (p.His869Gln)
c.*2591C>G (n.*2591C>G)
c.2775C>G (p.His925Gln)
n.808C>G
c.2574C>G (p.His858Gln)
c.2595C>G (p.His865Gln)
c.2904C>G (p.His968Gln)
c.2793C>G (p.His931Gln)
c.2823C>G (p.His941Gln)
c.2580C>G (p.His860Gln)
 gnomAD v4
3g.47848739C>TCA433609089DHX30c.2691C>T (p.His897=)
c.2607C>T (p.His869=)
c.*2591C>T (n.*2591C>T)
c.2775C>T (p.His925=)
n.808C>T
c.2574C>T (p.His858=)
c.2595C>T (p.His865=)
c.2904C>T (p.His968=)
c.2793C>T (p.His931=)
c.2823C>T (p.His941=)
c.2580C>T (p.His860=)
3g.47848740C>ACA352591864DHX30c.2692C>A (p.Pro898Thr)
c.2608C>A (p.Pro870Thr)
c.*2592C>A (n.*2592C>A)
c.2776C>A (p.Pro926Thr)
n.809C>A
c.2575C>A (p.Pro859Thr)
c.2596C>A (p.Pro866Thr)
c.2905C>A (p.Pro969Thr)
c.2794C>A (p.Pro932Thr)
c.2824C>A (p.Pro942Thr)
c.2581C>A (p.Pro861Thr)
3g.47848740C>GCA352591865DHX30c.2692C>G (p.Pro898Ala)
c.2608C>G (p.Pro870Ala)
c.*2592C>G (n.*2592C>G)
c.2776C>G (p.Pro926Ala)
n.809C>G
c.2575C>G (p.Pro859Ala)
c.2596C>G (p.Pro866Ala)
c.2905C>G (p.Pro969Ala)
c.2794C>G (p.Pro932Ala)
c.2824C>G (p.Pro942Ala)
c.2581C>G (p.Pro861Ala)
3g.47848740C>TCA352591867DHX30c.2692C>T (p.Pro898Ser)
c.2608C>T (p.Pro870Ser)
c.*2592C>T (n.*2592C>T)
c.2776C>T (p.Pro926Ser)
n.809C>T
c.2575C>T (p.Pro859Ser)
c.2596C>T (p.Pro866Ser)
c.2905C>T (p.Pro969Ser)
c.2794C>T (p.Pro932Ser)
c.2824C>T (p.Pro942Ser)
c.2581C>T (p.Pro861Ser)
3g.47848741C>ACA352591869DHX30c.2693C>A (p.Pro898Gln)
c.2609C>A (p.Pro870Gln)
c.*2593C>A (n.*2593C>A)
c.2777C>A (p.Pro926Gln)
n.810C>A
c.2576C>A (p.Pro859Gln)
c.2597C>A (p.Pro866Gln)
c.2906C>A (p.Pro969Gln)
c.2795C>A (p.Pro932Gln)
c.2825C>A (p.Pro942Gln)
c.2582C>A (p.Pro861Gln)
3g.47848741C>GCA352591871DHX30c.2693C>G (p.Pro898Arg)
c.2609C>G (p.Pro870Arg)
c.*2593C>G (n.*2593C>G)
c.2777C>G (p.Pro926Arg)
n.810C>G
c.2576C>G (p.Pro859Arg)
c.2597C>G (p.Pro866Arg)
c.2906C>G (p.Pro969Arg)
c.2795C>G (p.Pro932Arg)
c.2825C>G (p.Pro942Arg)
c.2582C>G (p.Pro861Arg)
3g.47848741C>TCA352591872DHX30c.2693C>T (p.Pro898Leu)
c.2609C>T (p.Pro870Leu)
c.*2593C>T (n.*2593C>T)
c.2777C>T (p.Pro926Leu)
n.810C>T
c.2576C>T (p.Pro859Leu)
c.2597C>T (p.Pro866Leu)
c.2906C>T (p.Pro969Leu)
c.2795C>T (p.Pro932Leu)
c.2825C>T (p.Pro942Leu)
c.2582C>T (p.Pro861Leu)
3g.47848742A=CA1362750430DHX30c.2694A= (p.Pro898=)
c.2610A= (p.Pro870=)
c.*2594A= (n.*2594A=)
c.2778A= (p.Pro926=)
n.811A=
c.2577A= (p.Pro859=)
c.2598A= (p.Pro866=)
c.2907A= (p.Pro969=)
c.2796A= (p.Pro932=)
c.2826A= (p.Pro942=)
c.2583A= (p.Pro861=)
3g.47848742A>CCA433609095DHX30c.2694A>C (p.Pro898=)
c.2610A>C (p.Pro870=)
c.*2594A>C (n.*2594A>C)
c.2778A>C (p.Pro926=)
n.811A>C
c.2577A>C (p.Pro859=)
c.2598A>C (p.Pro866=)
c.2907A>C (p.Pro969=)
c.2796A>C (p.Pro932=)
c.2826A>C (p.Pro942=)
c.2583A>C (p.Pro861=)
3g.47848742A>GCA2370194DHX30c.2694A>G (p.Pro898=)
c.2610A>G (p.Pro870=)
c.*2594A>G (n.*2594A>G)
c.2778A>G (p.Pro926=)
n.811A>G
c.2577A>G (p.Pro859=)
c.2598A>G (p.Pro866=)
c.2907A>G (p.Pro969=)
c.2796A>G (p.Pro932=)
c.2826A>G (p.Pro942=)
c.2583A>G (p.Pro861=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848742A>TCA433609097DHX30c.2694A>T (p.Pro898=)
c.2610A>T (p.Pro870=)
c.*2594A>T (n.*2594A>T)
c.2778A>T (p.Pro926=)
n.811A>T
c.2577A>T (p.Pro859=)
c.2598A>T (p.Pro866=)
c.2907A>T (p.Pro969=)
c.2796A>T (p.Pro932=)
c.2826A>T (p.Pro942=)
c.2583A>T (p.Pro861=)
3g.47848743C>ACA352591877DHX30c.2695C>A (p.Leu899Ile)
c.2611C>A (p.Leu871Ile)
c.*2595C>A (n.*2595C>A)
c.2779C>A (p.Leu927Ile)
n.812C>A
c.2578C>A (p.Leu860Ile)
c.2599C>A (p.Leu867Ile)
c.2908C>A (p.Leu970Ile)
c.2797C>A (p.Leu933Ile)
c.2827C>A (p.Leu943Ile)
c.2584C>A (p.Leu862Ile)
3g.47848743C>GCA352591876DHX30c.2695C>G (p.Leu899Val)
c.2611C>G (p.Leu871Val)
c.*2595C>G (n.*2595C>G)
c.2779C>G (p.Leu927Val)
n.812C>G
c.2578C>G (p.Leu860Val)
c.2599C>G (p.Leu867Val)
c.2908C>G (p.Leu970Val)
c.2797C>G (p.Leu933Val)
c.2827C>G (p.Leu943Val)
c.2584C>G (p.Leu862Val)
3g.47848743C>TCA433609099DHX30c.2695C>T (p.Leu899=)
c.2611C>T (p.Leu871=)
c.*2595C>T (n.*2595C>T)
c.2779C>T (p.Leu927=)
n.812C>T
c.2578C>T (p.Leu860=)
c.2599C>T (p.Leu867=)
c.2908C>T (p.Leu970=)
c.2797C>T (p.Leu933=)
c.2827C>T (p.Leu943=)
c.2584C>T (p.Leu862=)
3g.47848744T>ACA352591881DHX30c.2696T>A (p.Leu899Gln)
c.2612T>A (p.Leu871Gln)
c.*2596T>A (n.*2596T>A)
c.2780T>A (p.Leu927Gln)
n.813T>A
c.2579T>A (p.Leu860Gln)
c.2600T>A (p.Leu867Gln)
c.2909T>A (p.Leu970Gln)
c.2798T>A (p.Leu933Gln)
c.2828T>A (p.Leu943Gln)
c.2585T>A (p.Leu862Gln)
3g.47848744T>CCA352591880DHX30c.2696T>C (p.Leu899Pro)
c.2612T>C (p.Leu871Pro)
c.*2596T>C (n.*2596T>C)
c.2780T>C (p.Leu927Pro)
n.813T>C
c.2579T>C (p.Leu860Pro)
c.2600T>C (p.Leu867Pro)
c.2909T>C (p.Leu970Pro)
c.2798T>C (p.Leu933Pro)
c.2828T>C (p.Leu943Pro)
c.2585T>C (p.Leu862Pro)
3g.47848744T>GCA352591883DHX30c.2696T>G (p.Leu899Arg)
c.2612T>G (p.Leu871Arg)
c.*2596T>G (n.*2596T>G)
c.2780T>G (p.Leu927Arg)
n.813T>G
c.2579T>G (p.Leu860Arg)
c.2600T>G (p.Leu867Arg)
c.2909T>G (p.Leu970Arg)
c.2798T>G (p.Leu933Arg)
c.2828T>G (p.Leu943Arg)
c.2585T>G (p.Leu862Arg)
3g.47848745A=CA1362750431DHX30c.2697A= (p.Leu899=)
c.2613A= (p.Leu871=)
c.*2597A= (n.*2597A=)
c.2781A= (p.Leu927=)
n.814A=
c.2580A= (p.Leu860=)
c.2601A= (p.Leu867=)
c.2910A= (p.Leu970=)
c.2799A= (p.Leu933=)
c.2829A= (p.Leu943=)
c.2586A= (p.Leu862=)
3g.47848745A>CCA433609103DHX30c.2697A>C (p.Leu899=)
c.2613A>C (p.Leu871=)
c.*2597A>C (n.*2597A>C)
c.2781A>C (p.Leu927=)
n.814A>C
c.2580A>C (p.Leu860=)
c.2601A>C (p.Leu867=)
c.2910A>C (p.Leu970=)
c.2799A>C (p.Leu933=)
c.2829A>C (p.Leu943=)
c.2586A>C (p.Leu862=)
3g.47848745A>GCA73899553DHX30c.2697A>G (p.Leu899=)
c.2613A>G (p.Leu871=)
c.*2597A>G (n.*2597A>G)
c.2781A>G (p.Leu927=)
n.814A>G
c.2580A>G (p.Leu860=)
c.2601A>G (p.Leu867=)
c.2910A>G (p.Leu970=)
c.2799A>G (p.Leu933=)
c.2829A>G (p.Leu943=)
c.2586A>G (p.Leu862=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.47848745A>TCA433609105DHX30c.2697A>T (p.Leu899=)
c.2613A>T (p.Leu871=)
c.*2597A>T (n.*2597A>T)
c.2781A>T (p.Leu927=)
n.814A>T
c.2580A>T (p.Leu860=)
c.2601A>T (p.Leu867=)
c.2910A>T (p.Leu970=)
c.2799A>T (p.Leu933=)
c.2829A>T (p.Leu943=)
c.2586A>T (p.Leu862=)
3g.47848746C>ACA352591885DHX30c.2698C>A (p.Leu900Met)
c.2614C>A (p.Leu872Met)
c.*2598C>A (n.*2598C>A)
c.2782C>A (p.Leu928Met)
n.815C>A
c.2581C>A (p.Leu861Met)
c.2602C>A (p.Leu868Met)
c.2911C>A (p.Leu971Met)
c.2800C>A (p.Leu934Met)
c.2830C>A (p.Leu944Met)
c.2587C>A (p.Leu863Met)
3g.47848746C>GCA352591887DHX30c.2698C>G (p.Leu900Val)
c.2614C>G (p.Leu872Val)
c.*2598C>G (n.*2598C>G)
c.2782C>G (p.Leu928Val)
n.815C>G
c.2581C>G (p.Leu861Val)
c.2602C>G (p.Leu868Val)
c.2911C>G (p.Leu971Val)
c.2800C>G (p.Leu934Val)
c.2830C>G (p.Leu944Val)
c.2587C>G (p.Leu863Val)
3g.47848746C>TCA433609106DHX30c.2698C>T (p.Leu900=)
c.2614C>T (p.Leu872=)
c.*2598C>T (n.*2598C>T)
c.2782C>T (p.Leu928=)
n.815C>T
c.2581C>T (p.Leu861=)
c.2602C>T (p.Leu868=)
c.2911C>T (p.Leu971=)
c.2800C>T (p.Leu934=)
c.2830C>T (p.Leu944=)
c.2587C>T (p.Leu863=)
3g.47848747T>ACA352591889DHX30c.2699T>A (p.Leu900Gln)
c.2615T>A (p.Leu872Gln)
c.*2599T>A (n.*2599T>A)
c.2783T>A (p.Leu928Gln)
n.816T>A
c.2582T>A (p.Leu861Gln)
c.2603T>A (p.Leu868Gln)
c.2912T>A (p.Leu971Gln)
c.2801T>A (p.Leu934Gln)
c.2831T>A (p.Leu944Gln)
c.2588T>A (p.Leu863Gln)
3g.47848747T>CCA352591891DHX30c.2699T>C (p.Leu900Pro)
c.2615T>C (p.Leu872Pro)
c.*2599T>C (n.*2599T>C)
c.2783T>C (p.Leu928Pro)
n.816T>C
c.2582T>C (p.Leu861Pro)
c.2603T>C (p.Leu868Pro)
c.2912T>C (p.Leu971Pro)
c.2801T>C (p.Leu934Pro)
c.2831T>C (p.Leu944Pro)
c.2588T>C (p.Leu863Pro)
 COSMIC
3g.47848747T>GCA352591892DHX30c.2699T>G (p.Leu900Arg)
c.2615T>G (p.Leu872Arg)
c.*2599T>G (n.*2599T>G)
c.2783T>G (p.Leu928Arg)
n.816T>G
c.2582T>G (p.Leu861Arg)
c.2603T>G (p.Leu868Arg)
c.2912T>G (p.Leu971Arg)
c.2801T>G (p.Leu934Arg)
c.2831T>G (p.Leu944Arg)
c.2588T>G (p.Leu863Arg)
3g.47848748G>ACA433609114DHX30c.2700G>A (p.Leu900=)
c.2616G>A (p.Leu872=)
c.*2600G>A (n.*2600G>A)
c.2784G>A (p.Leu928=)
n.817G>A
c.2583G>A (p.Leu861=)
c.2604G>A (p.Leu868=)
c.2913G>A (p.Leu971=)
c.2802G>A (p.Leu934=)
c.2832G>A (p.Leu944=)
c.2589G>A (p.Leu863=)
 dbSNP gnomAD v4
3g.47848748G>CCA433609116DHX30c.2700G>C (p.Leu900=)
c.2616G>C (p.Leu872=)
c.*2600G>C (n.*2600G>C)
c.2784G>C (p.Leu928=)
n.817G>C
c.2583G>C (p.Leu861=)
c.2604G>C (p.Leu868=)
c.2913G>C (p.Leu971=)
c.2802G>C (p.Leu934=)
c.2832G>C (p.Leu944=)
c.2589G>C (p.Leu863=)
3g.47848748G>TCA433609117DHX30c.2700G>T (p.Leu900=)
c.2616G>T (p.Leu872=)
c.*2600G>T (n.*2600G>T)
c.2784G>T (p.Leu928=)
n.817G>T
c.2583G>T (p.Leu861=)
c.2604G>T (p.Leu868=)
c.2913G>T (p.Leu971=)
c.2802G>T (p.Leu934=)
c.2832G>T (p.Leu944=)
c.2589G>T (p.Leu863=)
3g.47848749G>ACA352591896DHX30c.2701G>A (p.Val901Met)
c.2617G>A (p.Val873Met)
c.*2601G>A (n.*2601G>A)
c.2785G>A (p.Val929Met)
n.818G>A
c.2584G>A (p.Val862Met)
c.2605G>A (p.Val869Met)
c.2914G>A (p.Val972Met)
c.2803G>A (p.Val935Met)
c.2833G>A (p.Val945Met)
c.2590G>A (p.Val864Met)
3g.47848749G>CCA352591895DHX30c.2701G>C (p.Val901Leu)
c.2617G>C (p.Val873Leu)
c.*2601G>C (n.*2601G>C)
c.2785G>C (p.Val929Leu)
n.818G>C
c.2584G>C (p.Val862Leu)
c.2605G>C (p.Val869Leu)
c.2914G>C (p.Val972Leu)
c.2803G>C (p.Val935Leu)
c.2833G>C (p.Val945Leu)
c.2590G>C (p.Val864Leu)
3g.47848749G>TCA352591893DHX30c.2701G>T (p.Val901Leu)
c.2617G>T (p.Val873Leu)
c.*2601G>T (n.*2601G>T)
c.2785G>T (p.Val929Leu)
n.818G>T
c.2584G>T (p.Val862Leu)
c.2605G>T (p.Val869Leu)
c.2914G>T (p.Val972Leu)
c.2803G>T (p.Val935Leu)
c.2833G>T (p.Val945Leu)
c.2590G>T (p.Val864Leu)
3g.47848750T>ACA352591898DHX30c.2702T>A (p.Val901Glu)
c.2618T>A (p.Val873Glu)
c.*2602T>A (n.*2602T>A)
c.2786T>A (p.Val929Glu)
n.819T>A
c.2585T>A (p.Val862Glu)
c.2606T>A (p.Val869Glu)
c.2915T>A (p.Val972Glu)
c.2804T>A (p.Val935Glu)
c.2834T>A (p.Val945Glu)
c.2591T>A (p.Val864Glu)
3g.47848750T>CCA352591899DHX30c.2702T>C (p.Val901Ala)
c.2618T>C (p.Val873Ala)
c.*2602T>C (n.*2602T>C)
c.2786T>C (p.Val929Ala)
n.819T>C
c.2585T>C (p.Val862Ala)
c.2606T>C (p.Val869Ala)
c.2915T>C (p.Val972Ala)
c.2804T>C (p.Val935Ala)
c.2834T>C (p.Val945Ala)
c.2591T>C (p.Val864Ala)
3g.47848750T>GCA352591901DHX30c.2702T>G (p.Val901Gly)
c.2618T>G (p.Val873Gly)
c.*2602T>G (n.*2602T>G)
c.2786T>G (p.Val929Gly)
n.819T>G
c.2585T>G (p.Val862Gly)
c.2606T>G (p.Val869Gly)
c.2915T>G (p.Val972Gly)
c.2804T>G (p.Val935Gly)
c.2834T>G (p.Val945Gly)
c.2591T>G (p.Val864Gly)
3g.47848751G>ACA433609120DHX30c.2703G>A (p.Val901=)
c.2619G>A (p.Val873=)
c.*2603G>A (n.*2603G>A)
c.2787G>A (p.Val929=)
n.820G>A
c.2586G>A (p.Val862=)
c.2607G>A (p.Val869=)
c.2916G>A (p.Val972=)
c.2805G>A (p.Val935=)
c.2835G>A (p.Val945=)
c.2592G>A (p.Val864=)
3g.47848751G>CCA433609121DHX30c.2703G>C (p.Val901=)
c.2619G>C (p.Val873=)
c.*2603G>C (n.*2603G>C)
c.2787G>C (p.Val929=)
n.820G>C
c.2586G>C (p.Val862=)
c.2607G>C (p.Val869=)
c.2916G>C (p.Val972=)
c.2805G>C (p.Val935=)
c.2835G>C (p.Val945=)
c.2592G>C (p.Val864=)
 dbSNP
3g.47848751G>TCA433609123DHX30c.2703G>T (p.Val901=)
c.2619G>T (p.Val873=)
c.*2603G>T (n.*2603G>T)
c.2787G>T (p.Val929=)
n.820G>T
c.2586G>T (p.Val862=)
c.2607G>T (p.Val869=)
c.2916G>T (p.Val972=)
c.2805G>T (p.Val935=)
c.2835G>T (p.Val945=)
c.2592G>T (p.Val864=)
3g.47848752G>ACA352591903DHX30c.2704G>A (p.Val902Ile)
c.2620G>A (p.Val874Ile)
c.*2604G>A (n.*2604G>A)
c.2788G>A (p.Val930Ile)
n.821G>A
c.2587G>A (p.Val863Ile)
c.2608G>A (p.Val870Ile)
c.2917G>A (p.Val973Ile)
c.2806G>A (p.Val936Ile)
c.2836G>A (p.Val946Ile)
c.2593G>A (p.Val865Ile)
3g.47848752G>CCA352591904DHX30c.2704G>C (p.Val902Leu)
c.2620G>C (p.Val874Leu)
c.*2604G>C (n.*2604G>C)
c.2788G>C (p.Val930Leu)
n.821G>C
c.2587G>C (p.Val863Leu)
c.2608G>C (p.Val870Leu)
c.2917G>C (p.Val973Leu)
c.2806G>C (p.Val936Leu)
c.2836G>C (p.Val946Leu)
c.2593G>C (p.Val865Leu)
3g.47848752G>TCA352591905DHX30c.2704G>T (p.Val902Phe)
c.2620G>T (p.Val874Phe)
c.*2604G>T (n.*2604G>T)
c.2788G>T (p.Val930Phe)
n.821G>T
c.2587G>T (p.Val863Phe)
c.2608G>T (p.Val870Phe)
c.2917G>T (p.Val973Phe)
c.2806G>T (p.Val936Phe)
c.2836G>T (p.Val946Phe)
c.2593G>T (p.Val865Phe)
3g.47848753T>ACA352591907DHX30c.2705T>A (p.Val902Asp)
c.2621T>A (p.Val874Asp)
c.*2605T>A (n.*2605T>A)
c.2789T>A (p.Val930Asp)
n.822T>A
c.2588T>A (p.Val863Asp)
c.2609T>A (p.Val870Asp)
c.2918T>A (p.Val973Asp)
c.2807T>A (p.Val936Asp)
c.2837T>A (p.Val946Asp)
c.2594T>A (p.Val865Asp)
3g.47848753T>CCA352591911DHX30c.2705T>C (p.Val902Ala)
c.2621T>C (p.Val874Ala)
c.*2605T>C (n.*2605T>C)
c.2789T>C (p.Val930Ala)
n.822T>C
c.2588T>C (p.Val863Ala)
c.2609T>C (p.Val870Ala)
c.2918T>C (p.Val973Ala)
c.2807T>C (p.Val936Ala)
c.2837T>C (p.Val946Ala)
c.2594T>C (p.Val865Ala)
 dbSNP
3g.47848753T>GCA352591910DHX30c.2705T>G (p.Val902Gly)
c.2621T>G (p.Val874Gly)
c.*2605T>G (n.*2605T>G)
c.2789T>G (p.Val930Gly)
n.822T>G
c.2588T>G (p.Val863Gly)
c.2609T>G (p.Val870Gly)
c.2918T>G (p.Val973Gly)
c.2807T>G (p.Val936Gly)
c.2837T>G (p.Val946Gly)
c.2594T>G (p.Val865Gly)
 dbSNP
3g.47848753T=CA1362750432DHX30c.2705T= (p.Val902=)
c.2621T= (p.Val874=)
c.*2605T= (n.*2605T=)
c.2789T= (p.Val930=)
n.822T=
c.2588T= (p.Val863=)
c.2609T= (p.Val870=)
c.2918T= (p.Val973=)
c.2807T= (p.Val936=)
c.2837T= (p.Val946=)
c.2594T= (p.Val865=)
3g.47848754C>ACA433609134DHX30c.2706C>A (p.Val902=)
c.2622C>A (p.Val874=)
c.*2606C>A (n.*2606C>A)
c.2790C>A (p.Val930=)
n.823C>A
c.2589C>A (p.Val863=)
c.2610C>A (p.Val870=)
c.2919C>A (p.Val973=)
c.2808C>A (p.Val936=)
c.2838C>A (p.Val946=)
c.2595C>A (p.Val865=)
 gnomAD v4
3g.47848754C=CA1362750433DHX30c.2706C= (p.Val902=)
c.2622C= (p.Val874=)
c.*2606C= (n.*2606C=)
c.2790C= (p.Val930=)
n.823C=
c.2589C= (p.Val863=)
c.2610C= (p.Val870=)
c.2919C= (p.Val973=)
c.2808C= (p.Val936=)
c.2838C= (p.Val946=)
c.2595C= (p.Val865=)
3g.47848754C>GCA433609144DHX30c.2706C>G (p.Val902=)
c.2622C>G (p.Val874=)
c.*2606C>G (n.*2606C>G)
c.2790C>G (p.Val930=)
n.823C>G
c.2589C>G (p.Val863=)
c.2610C>G (p.Val870=)
c.2919C>G (p.Val973=)
c.2808C>G (p.Val936=)
c.2838C>G (p.Val946=)
c.2595C>G (p.Val865=)
 dbSNP gnomAD v4
3g.47848754C>TCA2370195DHX30c.2706C>T (p.Val902=)
c.2622C>T (p.Val874=)
c.*2606C>T (n.*2606C>T)
c.2790C>T (p.Val930=)
n.823C>T
c.2589C>T (p.Val863=)
c.2610C>T (p.Val870=)
c.2919C>T (p.Val973=)
c.2808C>T (p.Val936=)
c.2838C>T (p.Val946=)
c.2595C>T (p.Val865=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848755G>ACA352591915DHX30c.2707G>A (p.Val903Ile)
c.2623G>A (p.Val875Ile)
c.*2607G>A (n.*2607G>A)
c.2791G>A (p.Val931Ile)
n.824G>A
c.2590G>A (p.Val864Ile)
c.2611G>A (p.Val871Ile)
c.2920G>A (p.Val974Ile)
c.2809G>A (p.Val937Ile)
c.2839G>A (p.Val947Ile)
c.2596G>A (p.Val866Ile)
 ClinVar COSMIC
3g.47848755G>CCA352591917DHX30c.2707G>C (p.Val903Leu)
c.2623G>C (p.Val875Leu)
c.*2607G>C (n.*2607G>C)
c.2791G>C (p.Val931Leu)
n.824G>C
c.2590G>C (p.Val864Leu)
c.2611G>C (p.Val871Leu)
c.2920G>C (p.Val974Leu)
c.2809G>C (p.Val937Leu)
c.2839G>C (p.Val947Leu)
c.2596G>C (p.Val866Leu)
3g.47848755G>TCA352591919DHX30c.2707G>T (p.Val903Phe)
c.2623G>T (p.Val875Phe)
c.*2607G>T (n.*2607G>T)
c.2791G>T (p.Val931Phe)
n.824G>T
c.2590G>T (p.Val864Phe)
c.2611G>T (p.Val871Phe)
c.2920G>T (p.Val974Phe)
c.2809G>T (p.Val937Phe)
c.2839G>T (p.Val947Phe)
c.2596G>T (p.Val866Phe)
3g.47848756T>ACA352591921DHX30c.2708T>A (p.Val903Asp)
c.2624T>A (p.Val875Asp)
c.*2608T>A (n.*2608T>A)
c.2792T>A (p.Val931Asp)
n.825T>A
c.2591T>A (p.Val864Asp)
c.2612T>A (p.Val871Asp)
c.2921T>A (p.Val974Asp)
c.2810T>A (p.Val937Asp)
c.2840T>A (p.Val947Asp)
c.2597T>A (p.Val866Asp)
3g.47848756T>CCA352591923DHX30c.2708T>C (p.Val903Ala)
c.2624T>C (p.Val875Ala)
c.*2608T>C (n.*2608T>C)
c.2792T>C (p.Val931Ala)
n.825T>C
c.2591T>C (p.Val864Ala)
c.2612T>C (p.Val871Ala)
c.2921T>C (p.Val974Ala)
c.2810T>C (p.Val937Ala)
c.2840T>C (p.Val947Ala)
c.2597T>C (p.Val866Ala)
 dbSNP
3g.47848756T>GCA352591925DHX30c.2708T>G (p.Val903Gly)
c.2624T>G (p.Val875Gly)
c.*2608T>G (n.*2608T>G)
c.2792T>G (p.Val931Gly)
n.825T>G
c.2591T>G (p.Val864Gly)
c.2612T>G (p.Val871Gly)
c.2921T>G (p.Val974Gly)
c.2810T>G (p.Val937Gly)
c.2840T>G (p.Val947Gly)
c.2597T>G (p.Val866Gly)
3g.47848756T=CA1362750434DHX30c.2708T= (p.Val903=)
c.2624T= (p.Val875=)
c.*2608T= (n.*2608T=)
c.2792T= (p.Val931=)
n.825T=
c.2591T= (p.Val864=)
c.2612T= (p.Val871=)
c.2921T= (p.Val974=)
c.2810T= (p.Val937=)
c.2840T= (p.Val947=)
c.2597T= (p.Val866=)
3g.47848757T>ACA433609153DHX30c.2709T>A (p.Val903=)
c.2625T>A (p.Val875=)
c.*2609T>A (n.*2609T>A)
c.2793T>A (p.Val931=)
n.826T>A
c.2592T>A (p.Val864=)
c.2613T>A (p.Val871=)
c.2922T>A (p.Val974=)
c.2811T>A (p.Val937=)
c.2841T>A (p.Val947=)
c.2598T>A (p.Val866=)
3g.47848757T>CCA433609155DHX30c.2709T>C (p.Val903=)
c.2625T>C (p.Val875=)
c.*2609T>C (n.*2609T>C)
c.2793T>C (p.Val931=)
n.826T>C
c.2592T>C (p.Val864=)
c.2613T>C (p.Val871=)
c.2922T>C (p.Val974=)
c.2811T>C (p.Val937=)
c.2841T>C (p.Val947=)
c.2598T>C (p.Val866=)
3g.47848757T>GCA433609158DHX30c.2709T>G (p.Val903=)
c.2625T>G (p.Val875=)
c.*2609T>G (n.*2609T>G)
c.2793T>G (p.Val931=)
n.826T>G
c.2592T>G (p.Val864=)
c.2613T>G (p.Val871=)
c.2922T>G (p.Val974=)
c.2811T>G (p.Val937=)
c.2841T>G (p.Val947=)
c.2598T>G (p.Val866=)
3g.47848758T>ACA352591927DHX30c.2710T>A (p.Ser904Thr)
c.2626T>A (p.Ser876Thr)
c.*2610T>A (n.*2610T>A)
c.2794T>A (p.Ser932Thr)
n.827T>A
c.2593T>A (p.Ser865Thr)
c.2614T>A (p.Ser872Thr)
c.2923T>A (p.Ser975Thr)
c.2812T>A (p.Ser938Thr)
c.2842T>A (p.Ser948Thr)
c.2599T>A (p.Ser867Thr)
3g.47848758T>CCA352591928DHX30c.2710T>C (p.Ser904Pro)
c.2626T>C (p.Ser876Pro)
c.*2610T>C (n.*2610T>C)
c.2794T>C (p.Ser932Pro)
n.827T>C
c.2593T>C (p.Ser865Pro)
c.2614T>C (p.Ser872Pro)
c.2923T>C (p.Ser975Pro)
c.2812T>C (p.Ser938Pro)
c.2842T>C (p.Ser948Pro)
c.2599T>C (p.Ser867Pro)
 dbSNP
3g.47848758T>GCA352591930DHX30c.2710T>G (p.Ser904Ala)
c.2626T>G (p.Ser876Ala)
c.*2610T>G (n.*2610T>G)
c.2794T>G (p.Ser932Ala)
n.827T>G
c.2593T>G (p.Ser865Ala)
c.2614T>G (p.Ser872Ala)
c.2923T>G (p.Ser975Ala)
c.2812T>G (p.Ser938Ala)
c.2842T>G (p.Ser948Ala)
c.2599T>G (p.Ser867Ala)
3g.47848758T=CA1362750435DHX30c.2710T= (p.Ser904=)
c.2626T= (p.Ser876=)
c.*2610T= (n.*2610T=)
c.2794T= (p.Ser932=)
n.827T=
c.2593T= (p.Ser865=)
c.2614T= (p.Ser872=)
c.2923T= (p.Ser975=)
c.2812T= (p.Ser938=)
c.2842T= (p.Ser948=)
c.2599T= (p.Ser867=)
3g.47848759C>ACA352591936DHX30c.2711C>A (p.Ser904Tyr)
c.2627C>A (p.Ser876Tyr)
c.*2611C>A (n.*2611C>A)
c.2795C>A (p.Ser932Tyr)
n.828C>A
c.2594C>A (p.Ser865Tyr)
c.2615C>A (p.Ser872Tyr)
c.2924C>A (p.Ser975Tyr)
c.2813C>A (p.Ser938Tyr)
c.2843C>A (p.Ser948Tyr)
c.2600C>A (p.Ser867Tyr)
3g.47848759C>GCA352591933DHX30c.2711C>G (p.Ser904Cys)
c.2627C>G (p.Ser876Cys)
c.*2611C>G (n.*2611C>G)
c.2795C>G (p.Ser932Cys)
n.828C>G
c.2594C>G (p.Ser865Cys)
c.2615C>G (p.Ser872Cys)
c.2924C>G (p.Ser975Cys)
c.2813C>G (p.Ser938Cys)
c.2843C>G (p.Ser948Cys)
c.2600C>G (p.Ser867Cys)
 gnomAD v4
3g.47848759C>TCA352591932DHX30c.2711C>T (p.Ser904Phe)
c.2627C>T (p.Ser876Phe)
c.*2611C>T (n.*2611C>T)
c.2795C>T (p.Ser932Phe)
n.828C>T
c.2594C>T (p.Ser865Phe)
c.2615C>T (p.Ser872Phe)
c.2924C>T (p.Ser975Phe)
c.2813C>T (p.Ser938Phe)
c.2843C>T (p.Ser948Phe)
c.2600C>T (p.Ser867Phe)
3g.47848760C>ACA433609177DHX30c.2712C>A (p.Ser904=)
c.2628C>A (p.Ser876=)
c.*2612C>A (n.*2612C>A)
c.2796C>A (p.Ser932=)
n.829C>A
c.2595C>A (p.Ser865=)
c.2616C>A (p.Ser872=)
c.2925C>A (p.Ser975=)
c.2814C>A (p.Ser938=)
c.2844C>A (p.Ser948=)
c.2601C>A (p.Ser867=)
 dbSNP
3g.47848760C=CA1362750436DHX30c.2712C= (p.Ser904=)
c.2628C= (p.Ser876=)
c.*2612C= (n.*2612C=)
c.2796C= (p.Ser932=)
n.829C=
c.2595C= (p.Ser865=)
c.2616C= (p.Ser872=)
c.2925C= (p.Ser975=)
c.2814C= (p.Ser938=)
c.2844C= (p.Ser948=)
c.2601C= (p.Ser867=)
3g.47848760C>GCA433609179DHX30c.2712C>G (p.Ser904=)
c.2628C>G (p.Ser876=)
c.*2612C>G (n.*2612C>G)
c.2796C>G (p.Ser932=)
n.829C>G
c.2595C>G (p.Ser865=)
c.2616C>G (p.Ser872=)
c.2925C>G (p.Ser975=)
c.2814C>G (p.Ser938=)
c.2844C>G (p.Ser948=)
c.2601C>G (p.Ser867=)
3g.47848760C>TCA2370196DHX30c.2712C>T (p.Ser904=)
c.2628C>T (p.Ser876=)
c.*2612C>T (n.*2612C>T)
c.2796C>T (p.Ser932=)
n.829C>T
c.2595C>T (p.Ser865=)
c.2616C>T (p.Ser872=)
c.2925C>T (p.Ser975=)
c.2814C>T (p.Ser938=)
c.2844C>T (p.Ser948=)
c.2601C>T (p.Ser867=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848761T>ACA352591940DHX30c.2713T>A (p.Cys905Ser)
c.2629T>A (p.Cys877Ser)
c.*2613T>A (n.*2613T>A)
c.2797T>A (p.Cys933Ser)
n.830T>A
c.2596T>A (p.Cys866Ser)
c.2617T>A (p.Cys873Ser)
c.2926T>A (p.Cys976Ser)
c.2815T>A (p.Cys939Ser)
c.2845T>A (p.Cys949Ser)
c.2602T>A (p.Cys868Ser)
3g.47848761T>CCA352591942DHX30c.2713T>C (p.Cys905Arg)
c.2629T>C (p.Cys877Arg)
c.*2613T>C (n.*2613T>C)
c.2797T>C (p.Cys933Arg)
n.830T>C
c.2596T>C (p.Cys866Arg)
c.2617T>C (p.Cys873Arg)
c.2926T>C (p.Cys976Arg)
c.2815T>C (p.Cys939Arg)
c.2845T>C (p.Cys949Arg)
c.2602T>C (p.Cys868Arg)
3g.47848761T>GCA352591943DHX30c.2713T>G (p.Cys905Gly)
c.2629T>G (p.Cys877Gly)
c.*2613T>G (n.*2613T>G)
c.2797T>G (p.Cys933Gly)
n.830T>G
c.2596T>G (p.Cys866Gly)
c.2617T>G (p.Cys873Gly)
c.2926T>G (p.Cys976Gly)
c.2815T>G (p.Cys939Gly)
c.2845T>G (p.Cys949Gly)
c.2602T>G (p.Cys868Gly)
3g.47848762G>ACA352591945DHX30c.2714G>A (p.Cys905Tyr)
c.2630G>A (p.Cys877Tyr)
c.*2614G>A (n.*2614G>A)
c.2798G>A (p.Cys933Tyr)
n.831G>A
c.2597G>A (p.Cys866Tyr)
c.2618G>A (p.Cys873Tyr)
c.2927G>A (p.Cys976Tyr)
c.2816G>A (p.Cys939Tyr)
c.2846G>A (p.Cys949Tyr)
c.2603G>A (p.Cys868Tyr)
3g.47848762G>CCA352591946DHX30c.2714G>C (p.Cys905Ser)
c.2630G>C (p.Cys877Ser)
c.*2614G>C (n.*2614G>C)
c.2798G>C (p.Cys933Ser)
n.831G>C
c.2597G>C (p.Cys866Ser)
c.2618G>C (p.Cys873Ser)
c.2927G>C (p.Cys976Ser)
c.2816G>C (p.Cys939Ser)
c.2846G>C (p.Cys949Ser)
c.2603G>C (p.Cys868Ser)
3g.47848762G>TCA352591947DHX30c.2714G>T (p.Cys905Phe)
c.2630G>T (p.Cys877Phe)
c.*2614G>T (n.*2614G>T)
c.2798G>T (p.Cys933Phe)
n.831G>T
c.2597G>T (p.Cys866Phe)
c.2618G>T (p.Cys873Phe)
c.2927G>T (p.Cys976Phe)
c.2816G>T (p.Cys939Phe)
c.2846G>T (p.Cys949Phe)
c.2603G>T (p.Cys868Phe)
3g.47848763C>ACA352591950DHX30c.2715C>A (p.Cys905Ter)
c.2631C>A (p.Cys877Ter)
c.*2615C>A (n.*2615C>A)
c.2799C>A (p.Cys933Ter)
n.832C>A
c.2598C>A (p.Cys866Ter)
c.2619C>A (p.Cys873Ter)
c.2928C>A (p.Cys976Ter)
c.2817C>A (p.Cys939Ter)
c.2847C>A (p.Cys949Ter)
c.2604C>A (p.Cys868Ter)
3g.47848763C>GCA352591951DHX30c.2715C>G (p.Cys905Trp)
c.2631C>G (p.Cys877Trp)
c.*2615C>G (n.*2615C>G)
c.2799C>G (p.Cys933Trp)
n.832C>G
c.2598C>G (p.Cys866Trp)
c.2619C>G (p.Cys873Trp)
c.2928C>G (p.Cys976Trp)
c.2817C>G (p.Cys939Trp)
c.2847C>G (p.Cys949Trp)
c.2604C>G (p.Cys868Trp)
3g.47848763C>TCA433609206DHX30c.2715C>T (p.Cys905=)
c.2631C>T (p.Cys877=)
c.*2615C>T (n.*2615C>T)
c.2799C>T (p.Cys933=)
n.832C>T
c.2598C>T (p.Cys866=)
c.2619C>T (p.Cys873=)
c.2928C>T (p.Cys976=)
c.2817C>T (p.Cys939=)
c.2847C>T (p.Cys949=)
c.2604C>T (p.Cys868=)
 gnomAD v4
3g.47848764C>ACA352591952DHX30c.2716C>A (p.Leu906Ile)
c.2632C>A (p.Leu878Ile)
c.*2616C>A (n.*2616C>A)
c.2800C>A (p.Leu934Ile)
n.833C>A
c.2599C>A (p.Leu867Ile)
c.2620C>A (p.Leu874Ile)
c.2929C>A (p.Leu977Ile)
c.2818C>A (p.Leu940Ile)
c.2848C>A (p.Leu950Ile)
c.2605C>A (p.Leu869Ile)
3g.47848764C=CA1362750437DHX30c.2716C= (p.Leu906=)
c.2632C= (p.Leu878=)
c.*2616C= (n.*2616C=)
c.2800C= (p.Leu934=)
n.833C=
c.2599C= (p.Leu867=)
c.2620C= (p.Leu874=)
c.2929C= (p.Leu977=)
c.2818C= (p.Leu940=)
c.2848C= (p.Leu950=)
c.2605C= (p.Leu869=)
3g.47848764C>GCA352591953DHX30c.2716C>G (p.Leu906Val)
c.2632C>G (p.Leu878Val)
c.*2616C>G (n.*2616C>G)
c.2800C>G (p.Leu934Val)
n.833C>G
c.2599C>G (p.Leu867Val)
c.2620C>G (p.Leu874Val)
c.2929C>G (p.Leu977Val)
c.2818C>G (p.Leu940Val)
c.2848C>G (p.Leu950Val)
c.2605C>G (p.Leu869Val)
3g.47848764C>TCA73899566DHX30c.2716C>T (p.Leu906Phe)
c.2632C>T (p.Leu878Phe)
c.*2616C>T (n.*2616C>T)
c.2800C>T (p.Leu934Phe)
n.833C>T
c.2599C>T (p.Leu867Phe)
c.2620C>T (p.Leu874Phe)
c.2929C>T (p.Leu977Phe)
c.2818C>T (p.Leu940Phe)
c.2848C>T (p.Leu950Phe)
c.2605C>T (p.Leu869Phe)
 dbSNP
3g.47848765T>ACA352591960DHX30c.2717T>A (p.Leu906His)
c.2633T>A (p.Leu878His)
c.*2617T>A (n.*2617T>A)
c.2801T>A (p.Leu934His)
n.834T>A
c.2600T>A (p.Leu867His)
c.2621T>A (p.Leu874His)
c.2930T>A (p.Leu977His)
c.2819T>A (p.Leu940His)
c.2849T>A (p.Leu950His)
c.2606T>A (p.Leu869His)
3g.47848765T>CCA352591958DHX30c.2717T>C (p.Leu906Pro)
c.2633T>C (p.Leu878Pro)
c.*2617T>C (n.*2617T>C)
c.2801T>C (p.Leu934Pro)
n.834T>C
c.2600T>C (p.Leu867Pro)
c.2621T>C (p.Leu874Pro)
c.2930T>C (p.Leu977Pro)
c.2819T>C (p.Leu940Pro)
c.2849T>C (p.Leu950Pro)
c.2606T>C (p.Leu869Pro)
3g.47848765T>GCA352591955DHX30c.2717T>G (p.Leu906Arg)
c.2633T>G (p.Leu878Arg)
c.*2617T>G (n.*2617T>G)
c.2801T>G (p.Leu934Arg)
n.834T>G
c.2600T>G (p.Leu867Arg)
c.2621T>G (p.Leu874Arg)
c.2930T>G (p.Leu977Arg)
c.2819T>G (p.Leu940Arg)
c.2849T>G (p.Leu950Arg)
c.2606T>G (p.Leu869Arg)
3g.47848766C>ACA433609221DHX30c.2718C>A (p.Leu906=)
c.2634C>A (p.Leu878=)
c.*2618C>A (n.*2618C>A)
c.2802C>A (p.Leu934=)
n.835C>A
c.2601C>A (p.Leu867=)
c.2622C>A (p.Leu874=)
c.2931C>A (p.Leu977=)
c.2820C>A (p.Leu940=)
c.2850C>A (p.Leu950=)
c.2607C>A (p.Leu869=)
3g.47848766C=CA1362750438DHX30c.2718C= (p.Leu906=)
c.2634C= (p.Leu878=)
c.*2618C= (n.*2618C=)
c.2802C= (p.Leu934=)
n.835C=
c.2601C= (p.Leu867=)
c.2622C= (p.Leu874=)
c.2931C= (p.Leu977=)
c.2820C= (p.Leu940=)
c.2850C= (p.Leu950=)
c.2607C= (p.Leu869=)
3g.47848766C>GCA433609224DHX30c.2718C>G (p.Leu906=)
c.2634C>G (p.Leu878=)
c.*2618C>G (n.*2618C>G)
c.2802C>G (p.Leu934=)
n.835C>G
c.2601C>G (p.Leu867=)
c.2622C>G (p.Leu874=)
c.2931C>G (p.Leu977=)
c.2820C>G (p.Leu940=)
c.2850C>G (p.Leu950=)
c.2607C>G (p.Leu869=)
3g.47848766C>TCA2370197DHX30c.2718C>T (p.Leu906=)
c.2634C>T (p.Leu878=)
c.*2618C>T (n.*2618C>T)
c.2802C>T (p.Leu934=)
n.835C>T
c.2601C>T (p.Leu867=)
c.2622C>T (p.Leu874=)
c.2931C>T (p.Leu977=)
c.2820C>T (p.Leu940=)
c.2850C>T (p.Leu950=)
c.2607C>T (p.Leu869=)
 dbSNP ExAC gnomAD v2
3g.47848767A>CCA352591963DHX30c.2719A>C (p.Thr907Pro)
c.2635A>C (p.Thr879Pro)
c.*2619A>C (n.*2619A>C)
c.2803A>C (p.Thr935Pro)
n.836A>C
c.2602A>C (p.Thr868Pro)
c.2623A>C (p.Thr875Pro)
c.2932A>C (p.Thr978Pro)
c.2821A>C (p.Thr941Pro)
c.2851A>C (p.Thr951Pro)
c.2608A>C (p.Thr870Pro)
3g.47848767A>GCA352591965DHX30c.2719A>G (p.Thr907Ala)
c.2635A>G (p.Thr879Ala)
c.*2619A>G (n.*2619A>G)
c.2803A>G (p.Thr935Ala)
n.836A>G
c.2602A>G (p.Thr868Ala)
c.2623A>G (p.Thr875Ala)
c.2932A>G (p.Thr978Ala)
c.2821A>G (p.Thr941Ala)
c.2851A>G (p.Thr951Ala)
c.2608A>G (p.Thr870Ala)
3g.47848767A>TCA352591967DHX30c.2719A>T (p.Thr907Ser)
c.2635A>T (p.Thr879Ser)
c.*2619A>T (n.*2619A>T)
c.2803A>T (p.Thr935Ser)
n.836A>T
c.2602A>T (p.Thr868Ser)
c.2623A>T (p.Thr875Ser)
c.2932A>T (p.Thr978Ser)
c.2821A>T (p.Thr941Ser)
c.2851A>T (p.Thr951Ser)
c.2608A>T (p.Thr870Ser)
 gnomAD v4
3g.47848768C>ACA352591969DHX30c.2720C>A (p.Thr907Asn)
c.2636C>A (p.Thr879Asn)
c.*2620C>A (n.*2620C>A)
c.2804C>A (p.Thr935Asn)
n.837C>A
c.2603C>A (p.Thr868Asn)
c.2624C>A (p.Thr875Asn)
c.2933C>A (p.Thr978Asn)
c.2822C>A (p.Thr941Asn)
c.2852C>A (p.Thr951Asn)
c.2609C>A (p.Thr870Asn)
3g.47848768C=CA1362750439DHX30c.2720C= (p.Thr907=)
c.2636C= (p.Thr879=)
c.*2620C= (n.*2620C=)
c.2804C= (p.Thr935=)
n.837C=
c.2603C= (p.Thr868=)
c.2624C= (p.Thr875=)
c.2933C= (p.Thr978=)
c.2822C= (p.Thr941=)
c.2852C= (p.Thr951=)
c.2609C= (p.Thr870=)
3g.47848768C>GCA352591971DHX30c.2720C>G (p.Thr907Ser)
c.2636C>G (p.Thr879Ser)
c.*2620C>G (n.*2620C>G)
c.2804C>G (p.Thr935Ser)
n.837C>G
c.2603C>G (p.Thr868Ser)
c.2624C>G (p.Thr875Ser)
c.2933C>G (p.Thr978Ser)
c.2822C>G (p.Thr941Ser)
c.2852C>G (p.Thr951Ser)
c.2609C>G (p.Thr870Ser)
3g.47848768C>TCA352591973DHX30c.2720C>T (p.Thr907Ile)
c.2636C>T (p.Thr879Ile)
c.*2620C>T (n.*2620C>T)
c.2804C>T (p.Thr935Ile)
n.837C>T
c.2603C>T (p.Thr868Ile)
c.2624C>T (p.Thr875Ile)
c.2933C>T (p.Thr978Ile)
c.2822C>T (p.Thr941Ile)
c.2852C>T (p.Thr951Ile)
c.2609C>T (p.Thr870Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.47848769C>ACA2370198DHX30c.2721C>A (p.Thr907=)
c.2637C>A (p.Thr879=)
c.*2621C>A (n.*2621C>A)
c.2805C>A (p.Thr935=)
n.838C>A
c.2604C>A (p.Thr868=)
c.2625C>A (p.Thr875=)
c.2934C>A (p.Thr978=)
c.2823C>A (p.Thr941=)
c.2853C>A (p.Thr951=)
c.2610C>A (p.Thr870=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848769C=CA1362750440DHX30c.2721C= (p.Thr907=)
c.2637C= (p.Thr879=)
c.*2621C= (n.*2621C=)
c.2805C= (p.Thr935=)
n.838C=
c.2604C= (p.Thr868=)
c.2625C= (p.Thr875=)
c.2934C= (p.Thr978=)
c.2823C= (p.Thr941=)
c.2853C= (p.Thr951=)
c.2610C= (p.Thr870=)
3g.47848769C>GCA433609232DHX30c.2721C>G (p.Thr907=)
c.2637C>G (p.Thr879=)
c.*2621C>G (n.*2621C>G)
c.2805C>G (p.Thr935=)
n.838C>G
c.2604C>G (p.Thr868=)
c.2625C>G (p.Thr875=)
c.2934C>G (p.Thr978=)
c.2823C>G (p.Thr941=)
c.2853C>G (p.Thr951=)
c.2610C>G (p.Thr870=)
3g.47848769C>TCA73899582DHX30c.2721C>T (p.Thr907=)
c.2637C>T (p.Thr879=)
c.*2621C>T (n.*2621C>T)
c.2805C>T (p.Thr935=)
n.838C>T
c.2604C>T (p.Thr868=)
c.2625C>T (p.Thr875=)
c.2934C>T (p.Thr978=)
c.2823C>T (p.Thr941=)
c.2853C>T (p.Thr951=)
c.2610C>T (p.Thr870=)
 dbSNP gnomAD v4
3g.47848770C>ACA433609236DHX30c.2722C>A (p.Arg908=)
c.2638C>A (p.Arg880=)
c.*2622C>A (n.*2622C>A)
c.2806C>A (p.Arg936=)
n.839C>A
c.2605C>A (p.Arg869=)
c.2626C>A (p.Arg876=)
c.2935C>A (p.Arg979=)
c.2824C>A (p.Arg942=)
c.2854C>A (p.Arg952=)
c.2611C>A (p.Arg871=)
 dbSNP
3g.47848770C=CA1362750441DHX30c.2722C= (p.Arg908=)
c.2638C= (p.Arg880=)
c.*2622C= (n.*2622C=)
c.2806C= (p.Arg936=)
n.839C=
c.2605C= (p.Arg869=)
c.2626C= (p.Arg876=)
c.2935C= (p.Arg979=)
c.2824C= (p.Arg942=)
c.2854C= (p.Arg952=)
c.2611C= (p.Arg871=)
3g.47848770C>GCA352591977DHX30c.2722C>G (p.Arg908Gly)
c.2638C>G (p.Arg880Gly)
c.*2622C>G (n.*2622C>G)
c.2806C>G (p.Arg936Gly)
n.839C>G
c.2605C>G (p.Arg869Gly)
c.2626C>G (p.Arg876Gly)
c.2935C>G (p.Arg979Gly)
c.2824C>G (p.Arg942Gly)
c.2854C>G (p.Arg952Gly)
c.2611C>G (p.Arg871Gly)
3g.47848770C>TCA73899587DHX30c.2722C>T (p.Arg908Trp)
c.2638C>T (p.Arg880Trp)
c.*2622C>T (n.*2622C>T)
c.2806C>T (p.Arg936Trp)
n.839C>T
c.2605C>T (p.Arg869Trp)
c.2626C>T (p.Arg876Trp)
c.2935C>T (p.Arg979Trp)
c.2824C>T (p.Arg942Trp)
c.2854C>T (p.Arg952Trp)
c.2611C>T (p.Arg871Trp)
 dbSNP
3g.47848771G>ACA352591980DHX30c.2723G>A (p.Arg908Gln)
c.2639G>A (p.Arg880Gln)
c.*2623G>A (n.*2623G>A)
c.2807G>A (p.Arg936Gln)
n.840G>A
c.2606G>A (p.Arg869Gln)
c.2627G>A (p.Arg876Gln)
c.2936G>A (p.Arg979Gln)
c.2825G>A (p.Arg942Gln)
c.2855G>A (p.Arg952Gln)
c.2612G>A (p.Arg871Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.47848771G>CCA352591983DHX30c.2723G>C (p.Arg908Pro)
c.2639G>C (p.Arg880Pro)
c.*2623G>C (n.*2623G>C)
c.2807G>C (p.Arg936Pro)
n.840G>C
c.2606G>C (p.Arg869Pro)
c.2627G>C (p.Arg876Pro)
c.2936G>C (p.Arg979Pro)
c.2825G>C (p.Arg942Pro)
c.2855G>C (p.Arg952Pro)
c.2612G>C (p.Arg871Pro)
3g.47848771G=CA1362750442DHX30c.2723G= (p.Arg908=)
c.2639G= (p.Arg880=)
c.*2623G= (n.*2623G=)
c.2807G= (p.Arg936=)
n.840G=
c.2606G= (p.Arg869=)
c.2627G= (p.Arg876=)
c.2936G= (p.Arg979=)
c.2825G= (p.Arg942=)
c.2855G= (p.Arg952=)
c.2612G= (p.Arg871=)
3g.47848771G>TCA352591985DHX30c.2723G>T (p.Arg908Leu)
c.2639G>T (p.Arg880Leu)
c.*2623G>T (n.*2623G>T)
c.2807G>T (p.Arg936Leu)
n.840G>T
c.2606G>T (p.Arg869Leu)
c.2627G>T (p.Arg876Leu)
c.2936G>T (p.Arg979Leu)
c.2825G>T (p.Arg942Leu)
c.2855G>T (p.Arg952Leu)
c.2612G>T (p.Arg871Leu)

Number of alleles fetched