UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.151406126T>A | CA341947636 | POGZ | c.2957A>T (p.Lys986Met) c.2750A>T (p.Lys917Met) c.2909A>T (p.Lys970Met) c.2930A>T (p.Lys977Met) n.3057A>T c.2624A>T (p.Lys875Met) c.2882A>T (p.Lys961Met) c.2777A>T (p.Lys926Met) c.2723A>T (p.Lys908Met) c.2801A>T (p.Lys934Met) c.2552A>T (p.Lys851Met) c.2783A>T (p.Lys928Met) c.1709A>T (p.Lys570Met) n.2764A>T | |
| 1 | g.151406126T>C | CA341947641 | POGZ | c.2957A>G (p.Lys986Arg) c.2750A>G (p.Lys917Arg) c.2909A>G (p.Lys970Arg) c.2930A>G (p.Lys977Arg) n.3057A>G c.2624A>G (p.Lys875Arg) c.2882A>G (p.Lys961Arg) c.2777A>G (p.Lys926Arg) c.2723A>G (p.Lys908Arg) c.2801A>G (p.Lys934Arg) c.2552A>G (p.Lys851Arg) c.2783A>G (p.Lys928Arg) c.1709A>G (p.Lys570Arg) n.2764A>G | |
| 1 | g.151406126T>G | CA341947650 | POGZ | c.2957A>C (p.Lys986Thr) c.2750A>C (p.Lys917Thr) c.2909A>C (p.Lys970Thr) c.2930A>C (p.Lys977Thr) n.3057A>C c.2624A>C (p.Lys875Thr) c.2882A>C (p.Lys961Thr) c.2777A>C (p.Lys926Thr) c.2723A>C (p.Lys908Thr) c.2801A>C (p.Lys934Thr) c.2552A>C (p.Lys851Thr) c.2783A>C (p.Lys928Thr) c.1709A>C (p.Lys570Thr) n.2764A>C | |
| 1 | g.151406127T>A | CA341947655 | POGZ | c.2956A>T (p.Lys986Ter) c.2749A>T (p.Lys917Ter) c.2908A>T (p.Lys970Ter) c.2929A>T (p.Lys977Ter) n.3056A>T c.2623A>T (p.Lys875Ter) c.2881A>T (p.Lys961Ter) c.2776A>T (p.Lys926Ter) c.2722A>T (p.Lys908Ter) c.2800A>T (p.Lys934Ter) c.2551A>T (p.Lys851Ter) c.2782A>T (p.Lys928Ter) c.1708A>T (p.Lys570Ter) n.2763A>T | |
| 1 | g.151406127T>C | CA341947658 | POGZ | c.2956A>G (p.Lys986Glu) c.2749A>G (p.Lys917Glu) c.2908A>G (p.Lys970Glu) c.2929A>G (p.Lys977Glu) n.3056A>G c.2623A>G (p.Lys875Glu) c.2881A>G (p.Lys961Glu) c.2776A>G (p.Lys926Glu) c.2722A>G (p.Lys908Glu) c.2800A>G (p.Lys934Glu) c.2551A>G (p.Lys851Glu) c.2782A>G (p.Lys928Glu) c.1708A>G (p.Lys570Glu) n.2763A>G | |
| 1 | g.151406127T>G | CA341947661 | POGZ | c.2956A>C (p.Lys986Gln) c.2749A>C (p.Lys917Gln) c.2908A>C (p.Lys970Gln) c.2929A>C (p.Lys977Gln) n.3056A>C c.2623A>C (p.Lys875Gln) c.2881A>C (p.Lys961Gln) c.2776A>C (p.Lys926Gln) c.2722A>C (p.Lys908Gln) c.2800A>C (p.Lys934Gln) c.2551A>C (p.Lys851Gln) c.2782A>C (p.Lys928Gln) c.1708A>C (p.Lys570Gln) n.2763A>C | |
| 1 | g.151406128T>A | CA341947674 | POGZ | c.2955A>T (p.Lys985Asn) c.2748A>T (p.Lys916Asn) c.2907A>T (p.Lys969Asn) c.2928A>T (p.Lys976Asn) n.3055A>T c.2622A>T (p.Lys874Asn) c.2880A>T (p.Lys960Asn) c.2775A>T (p.Lys925Asn) c.2721A>T (p.Lys907Asn) c.2799A>T (p.Lys933Asn) c.2550A>T (p.Lys850Asn) c.2781A>T (p.Lys927Asn) c.1707A>T (p.Lys569Asn) n.2762A>T | |
| 1 | g.151406128T>C | CA420909959 | POGZ | c.2955A>G (p.Lys985=) c.2748A>G (p.Lys916=) c.2907A>G (p.Lys969=) c.2928A>G (p.Lys976=) n.3055A>G c.2622A>G (p.Lys874=) c.2880A>G (p.Lys960=) c.2775A>G (p.Lys925=) c.2721A>G (p.Lys907=) c.2799A>G (p.Lys933=) c.2550A>G (p.Lys850=) c.2781A>G (p.Lys927=) c.1707A>G (p.Lys569=) n.2762A>G | |
| 1 | g.151406128T>G | CA341947677 | POGZ | c.2955A>C (p.Lys985Asn) c.2748A>C (p.Lys916Asn) c.2907A>C (p.Lys969Asn) c.2928A>C (p.Lys976Asn) n.3055A>C c.2622A>C (p.Lys874Asn) c.2880A>C (p.Lys960Asn) c.2775A>C (p.Lys925Asn) c.2721A>C (p.Lys907Asn) c.2799A>C (p.Lys933Asn) c.2550A>C (p.Lys850Asn) c.2781A>C (p.Lys927Asn) c.1707A>C (p.Lys569Asn) n.2762A>C | |
| 1 | g.151406129T>A | CA341947684 | POGZ | c.2954A>T (p.Lys985Ile) c.2747A>T (p.Lys916Ile) c.2906A>T (p.Lys969Ile) c.2927A>T (p.Lys976Ile) n.3054A>T c.2621A>T (p.Lys874Ile) c.2879A>T (p.Lys960Ile) c.2774A>T (p.Lys925Ile) c.2720A>T (p.Lys907Ile) c.2798A>T (p.Lys933Ile) c.2549A>T (p.Lys850Ile) c.2780A>T (p.Lys927Ile) c.1706A>T (p.Lys569Ile) n.2761A>T | |
| 1 | g.151406129T>C | CA29569232 | POGZ | c.2954A>G (p.Lys985Arg) c.2747A>G (p.Lys916Arg) c.2906A>G (p.Lys969Arg) c.2927A>G (p.Lys976Arg) n.3054A>G c.2621A>G (p.Lys874Arg) c.2879A>G (p.Lys960Arg) c.2774A>G (p.Lys925Arg) c.2720A>G (p.Lys907Arg) c.2798A>G (p.Lys933Arg) c.2549A>G (p.Lys850Arg) c.2780A>G (p.Lys927Arg) c.1706A>G (p.Lys569Arg) n.2761A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151406129T>G | CA341947689 | POGZ | c.2954A>C (p.Lys985Thr) c.2747A>C (p.Lys916Thr) c.2906A>C (p.Lys969Thr) c.2927A>C (p.Lys976Thr) n.3054A>C c.2621A>C (p.Lys874Thr) c.2879A>C (p.Lys960Thr) c.2774A>C (p.Lys925Thr) c.2720A>C (p.Lys907Thr) c.2798A>C (p.Lys933Thr) c.2549A>C (p.Lys850Thr) c.2780A>C (p.Lys927Thr) c.1706A>C (p.Lys569Thr) n.2761A>C | |
| 1 | g.151406129T= | CA1141960376 | POGZ | c.2954A= (p.Lys985=) c.2747A= (p.Lys916=) c.2906A= (p.Lys969=) c.2927A= (p.Lys976=) n.3054A= c.2621A= (p.Lys874=) c.2879A= (p.Lys960=) c.2774A= (p.Lys925=) c.2720A= (p.Lys907=) c.2798A= (p.Lys933=) c.2549A= (p.Lys850=) c.2780A= (p.Lys927=) c.1706A= (p.Lys569=) n.2761A= | |
| 1 | g.151406130T>A | CA341947700 | POGZ | c.2953A>T (p.Lys985Ter) c.2746A>T (p.Lys916Ter) c.2905A>T (p.Lys969Ter) c.2926A>T (p.Lys976Ter) n.3053A>T c.2620A>T (p.Lys874Ter) c.2878A>T (p.Lys960Ter) c.2773A>T (p.Lys925Ter) c.2719A>T (p.Lys907Ter) c.2797A>T (p.Lys933Ter) c.2548A>T (p.Lys850Ter) c.2779A>T (p.Lys927Ter) c.1705A>T (p.Lys569Ter) n.2760A>T | |
| 1 | g.151406130T>C | CA341947695 | POGZ | c.2953A>G (p.Lys985Glu) c.2746A>G (p.Lys916Glu) c.2905A>G (p.Lys969Glu) c.2926A>G (p.Lys976Glu) n.3053A>G c.2620A>G (p.Lys874Glu) c.2878A>G (p.Lys960Glu) c.2773A>G (p.Lys925Glu) c.2719A>G (p.Lys907Glu) c.2797A>G (p.Lys933Glu) c.2548A>G (p.Lys850Glu) c.2779A>G (p.Lys927Glu) c.1705A>G (p.Lys569Glu) n.2760A>G | |
| 1 | g.151406130T>G | CA341947693 | POGZ | c.2953A>C (p.Lys985Gln) c.2746A>C (p.Lys916Gln) c.2905A>C (p.Lys969Gln) c.2926A>C (p.Lys976Gln) n.3053A>C c.2620A>C (p.Lys874Gln) c.2878A>C (p.Lys960Gln) c.2773A>C (p.Lys925Gln) c.2719A>C (p.Lys907Gln) c.2797A>C (p.Lys933Gln) c.2548A>C (p.Lys850Gln) c.2779A>C (p.Lys927Gln) c.1705A>C (p.Lys569Gln) n.2760A>C | |
| 1 | g.151406131G>A | CA420909963 | POGZ | c.2952C>T (p.Gly984=) c.2745C>T (p.Gly915=) c.2904C>T (p.Gly968=) c.2925C>T (p.Gly975=) n.3052C>T c.2619C>T (p.Gly873=) c.2877C>T (p.Gly959=) c.2772C>T (p.Gly924=) c.2718C>T (p.Gly906=) c.2796C>T (p.Gly932=) c.2547C>T (p.Gly849=) c.2778C>T (p.Gly926=) c.1704C>T (p.Gly568=) n.2759C>T | gnomAD v4 |
| 1 | g.151406131G>C | CA420909965 | POGZ | c.2952C>G (p.Gly984=) c.2745C>G (p.Gly915=) c.2904C>G (p.Gly968=) c.2925C>G (p.Gly975=) n.3052C>G c.2619C>G (p.Gly873=) c.2877C>G (p.Gly959=) c.2772C>G (p.Gly924=) c.2718C>G (p.Gly906=) c.2796C>G (p.Gly932=) c.2547C>G (p.Gly849=) c.2778C>G (p.Gly926=) c.1704C>G (p.Gly568=) n.2759C>G | |
| 1 | g.151406131G= | CA2479570518 | POGZ | c.2952C= (p.Gly984=) c.2745C= (p.Gly915=) c.2904C= (p.Gly968=) c.2925C= (p.Gly975=) n.3052C= c.2619C= (p.Gly873=) c.2877C= (p.Gly959=) c.2772C= (p.Gly924=) c.2718C= (p.Gly906=) c.2796C= (p.Gly932=) c.2547C= (p.Gly849=) c.2778C= (p.Gly926=) c.1704C= (p.Gly568=) n.2759C= | |
| 1 | g.151406131G>T | CA420909966 | POGZ | c.2952C>A (p.Gly984=) c.2745C>A (p.Gly915=) c.2904C>A (p.Gly968=) c.2925C>A (p.Gly975=) n.3052C>A c.2619C>A (p.Gly873=) c.2877C>A (p.Gly959=) c.2772C>A (p.Gly924=) c.2718C>A (p.Gly906=) c.2796C>A (p.Gly932=) c.2547C>A (p.Gly849=) c.2778C>A (p.Gly926=) c.1704C>A (p.Gly568=) n.2759C>A | dbSNP |
| 1 | g.151406132C>A | CA341947703 | POGZ | c.2951G>T (p.Gly984Val) c.2744G>T (p.Gly915Val) c.2903G>T (p.Gly968Val) c.2924G>T (p.Gly975Val) n.3051G>T c.2618G>T (p.Gly873Val) c.2876G>T (p.Gly959Val) c.2771G>T (p.Gly924Val) c.2717G>T (p.Gly906Val) c.2795G>T (p.Gly932Val) c.2546G>T (p.Gly849Val) c.2777G>T (p.Gly926Val) c.1703G>T (p.Gly568Val) n.2758G>T | |
| 1 | g.151406132C= | CA2479570519 | POGZ | c.2951G= (p.Gly984=) c.2744G= (p.Gly915=) c.2903G= (p.Gly968=) c.2924G= (p.Gly975=) n.3051G= c.2618G= (p.Gly873=) c.2876G= (p.Gly959=) c.2771G= (p.Gly924=) c.2717G= (p.Gly906=) c.2795G= (p.Gly932=) c.2546G= (p.Gly849=) c.2777G= (p.Gly926=) c.1703G= (p.Gly568=) n.2758G= | |
| 1 | g.151406132C>G | CA341947706 | POGZ | c.2951G>C (p.Gly984Ala) c.2744G>C (p.Gly915Ala) c.2903G>C (p.Gly968Ala) c.2924G>C (p.Gly975Ala) n.3051G>C c.2618G>C (p.Gly873Ala) c.2876G>C (p.Gly959Ala) c.2771G>C (p.Gly924Ala) c.2717G>C (p.Gly906Ala) c.2795G>C (p.Gly932Ala) c.2546G>C (p.Gly849Ala) c.2777G>C (p.Gly926Ala) c.1703G>C (p.Gly568Ala) n.2758G>C | |
| 1 | g.151406132C>T | CA1091038 | POGZ | c.2951G>A (p.Gly984Asp) c.2744G>A (p.Gly915Asp) c.2903G>A (p.Gly968Asp) c.2924G>A (p.Gly975Asp) n.3051G>A c.2618G>A (p.Gly873Asp) c.2876G>A (p.Gly959Asp) c.2771G>A (p.Gly924Asp) c.2717G>A (p.Gly906Asp) c.2795G>A (p.Gly932Asp) c.2546G>A (p.Gly849Asp) c.2777G>A (p.Gly926Asp) c.1703G>A (p.Gly568Asp) n.2758G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.151406133C>A | CA341947713 | POGZ | c.2950G>T (p.Gly984Cys) c.2743G>T (p.Gly915Cys) c.2902G>T (p.Gly968Cys) c.2923G>T (p.Gly975Cys) n.3050G>T c.2617G>T (p.Gly873Cys) c.2875G>T (p.Gly959Cys) c.2770G>T (p.Gly924Cys) c.2716G>T (p.Gly906Cys) c.2794G>T (p.Gly932Cys) c.2545G>T (p.Gly849Cys) c.2776G>T (p.Gly926Cys) c.1702G>T (p.Gly568Cys) n.2757G>T | |
| 1 | g.151406133C>G | CA341947716 | POGZ | c.2950G>C (p.Gly984Arg) c.2743G>C (p.Gly915Arg) c.2902G>C (p.Gly968Arg) c.2923G>C (p.Gly975Arg) n.3050G>C c.2617G>C (p.Gly873Arg) c.2875G>C (p.Gly959Arg) c.2770G>C (p.Gly924Arg) c.2716G>C (p.Gly906Arg) c.2794G>C (p.Gly932Arg) c.2545G>C (p.Gly849Arg) c.2776G>C (p.Gly926Arg) c.1702G>C (p.Gly568Arg) n.2757G>C | |
| 1 | g.151406133C>T | CA341947719 | POGZ | c.2950G>A (p.Gly984Ser) c.2743G>A (p.Gly915Ser) c.2902G>A (p.Gly968Ser) c.2923G>A (p.Gly975Ser) n.3050G>A c.2617G>A (p.Gly873Ser) c.2875G>A (p.Gly959Ser) c.2770G>A (p.Gly924Ser) c.2716G>A (p.Gly906Ser) c.2794G>A (p.Gly932Ser) c.2545G>A (p.Gly849Ser) c.2776G>A (p.Gly926Ser) c.1702G>A (p.Gly568Ser) n.2757G>A | |
| 1 | g.151406134A= | CA2479570520 | POGZ | c.2949T= (p.Val983=) c.2742T= (p.Val914=) c.2901T= (p.Val967=) c.2922T= (p.Val974=) n.3049T= c.2616T= (p.Val872=) c.2874T= (p.Val958=) c.2769T= (p.Val923=) c.2715T= (p.Val905=) c.2793T= (p.Val931=) c.2544T= (p.Val848=) c.2775T= (p.Val925=) c.1701T= (p.Val567=) n.2756T= | |
| 1 | g.151406134A>C | CA420909968 | POGZ | c.2949T>G (p.Val983=) c.2742T>G (p.Val914=) c.2901T>G (p.Val967=) c.2922T>G (p.Val974=) n.3049T>G c.2616T>G (p.Val872=) c.2874T>G (p.Val958=) c.2769T>G (p.Val923=) c.2715T>G (p.Val905=) c.2793T>G (p.Val931=) c.2544T>G (p.Val848=) c.2775T>G (p.Val925=) c.1701T>G (p.Val567=) n.2756T>G | |
| 1 | g.151406134A>G | CA420909969 | POGZ | c.2949T>C (p.Val983=) c.2742T>C (p.Val914=) c.2901T>C (p.Val967=) c.2922T>C (p.Val974=) n.3049T>C c.2616T>C (p.Val872=) c.2874T>C (p.Val958=) c.2769T>C (p.Val923=) c.2715T>C (p.Val905=) c.2793T>C (p.Val931=) c.2544T>C (p.Val848=) c.2775T>C (p.Val925=) c.1701T>C (p.Val567=) n.2756T>C | dbSNP |
| 1 | g.151406134A>T | CA420909970 | POGZ | c.2949T>A (p.Val983=) c.2742T>A (p.Val914=) c.2901T>A (p.Val967=) c.2922T>A (p.Val974=) n.3049T>A c.2616T>A (p.Val872=) c.2874T>A (p.Val958=) c.2769T>A (p.Val923=) c.2715T>A (p.Val905=) c.2793T>A (p.Val931=) c.2544T>A (p.Val848=) c.2775T>A (p.Val925=) c.1701T>A (p.Val567=) n.2756T>A | |
| 1 | g.151406135A= | CA2479570521 | POGZ | c.2948T= (p.Val983=) c.2741T= (p.Val914=) c.2900T= (p.Val967=) c.2921T= (p.Val974=) n.3048T= c.2615T= (p.Val872=) c.2873T= (p.Val958=) c.2768T= (p.Val923=) c.2714T= (p.Val905=) c.2792T= (p.Val931=) c.2543T= (p.Val848=) c.2774T= (p.Val925=) c.1700T= (p.Val567=) n.2755T= | |
| 1 | g.151406135A>C | CA341947731 | POGZ | c.2948T>G (p.Val983Gly) c.2741T>G (p.Val914Gly) c.2900T>G (p.Val967Gly) c.2921T>G (p.Val974Gly) n.3048T>G c.2615T>G (p.Val872Gly) c.2873T>G (p.Val958Gly) c.2768T>G (p.Val923Gly) c.2714T>G (p.Val905Gly) c.2792T>G (p.Val931Gly) c.2543T>G (p.Val848Gly) c.2774T>G (p.Val925Gly) c.1700T>G (p.Val567Gly) n.2755T>G | |
| 1 | g.151406135A>G | CA341947727 | POGZ | c.2948T>C (p.Val983Ala) c.2741T>C (p.Val914Ala) c.2900T>C (p.Val967Ala) c.2921T>C (p.Val974Ala) n.3048T>C c.2615T>C (p.Val872Ala) c.2873T>C (p.Val958Ala) c.2768T>C (p.Val923Ala) c.2714T>C (p.Val905Ala) c.2792T>C (p.Val931Ala) c.2543T>C (p.Val848Ala) c.2774T>C (p.Val925Ala) c.1700T>C (p.Val567Ala) n.2755T>C | dbSNP gnomAD v4 |
| 1 | g.151406135A>T | CA341947724 | POGZ | c.2948T>A (p.Val983Asp) c.2741T>A (p.Val914Asp) c.2900T>A (p.Val967Asp) c.2921T>A (p.Val974Asp) n.3048T>A c.2615T>A (p.Val872Asp) c.2873T>A (p.Val958Asp) c.2768T>A (p.Val923Asp) c.2714T>A (p.Val905Asp) c.2792T>A (p.Val931Asp) c.2543T>A (p.Val848Asp) c.2774T>A (p.Val925Asp) c.1700T>A (p.Val567Asp) n.2755T>A | |
| 1 | g.151406136C>A | CA341947734 | POGZ | c.2947G>T (p.Val983Phe) c.2740G>T (p.Val914Phe) c.2899G>T (p.Val967Phe) c.2920G>T (p.Val974Phe) n.3047G>T c.2614G>T (p.Val872Phe) c.2872G>T (p.Val958Phe) c.2767G>T (p.Val923Phe) c.2713G>T (p.Val905Phe) c.2791G>T (p.Val931Phe) c.2542G>T (p.Val848Phe) c.2773G>T (p.Val925Phe) c.1699G>T (p.Val567Phe) n.2754G>T | |
| 1 | g.151406136C>G | CA341947736 | POGZ | c.2947G>C (p.Val983Leu) c.2740G>C (p.Val914Leu) c.2899G>C (p.Val967Leu) c.2920G>C (p.Val974Leu) n.3047G>C c.2614G>C (p.Val872Leu) c.2872G>C (p.Val958Leu) c.2767G>C (p.Val923Leu) c.2713G>C (p.Val905Leu) c.2791G>C (p.Val931Leu) c.2542G>C (p.Val848Leu) c.2773G>C (p.Val925Leu) c.1699G>C (p.Val567Leu) n.2754G>C | |
| 1 | g.151406136C>T | CA341947738 | POGZ | c.2947G>A (p.Val983Ile) c.2740G>A (p.Val914Ile) c.2899G>A (p.Val967Ile) c.2920G>A (p.Val974Ile) n.3047G>A c.2614G>A (p.Val872Ile) c.2872G>A (p.Val958Ile) c.2767G>A (p.Val923Ile) c.2713G>A (p.Val905Ile) c.2791G>A (p.Val931Ile) c.2542G>A (p.Val848Ile) c.2773G>A (p.Val925Ile) c.1699G>A (p.Val567Ile) n.2754G>A | |
| 1 | g.151406137T>A | CA420909975 | POGZ | c.2946A>T (p.Gly982=) c.2739A>T (p.Gly913=) c.2898A>T (p.Gly966=) c.2919A>T (p.Gly973=) n.3046A>T c.2613A>T (p.Gly871=) c.2871A>T (p.Gly957=) c.2766A>T (p.Gly922=) c.2712A>T (p.Gly904=) c.2790A>T (p.Gly930=) c.2541A>T (p.Gly847=) c.2772A>T (p.Gly924=) c.1698A>T (p.Gly566=) n.2753A>T | |
| 1 | g.151406137T>C | CA420909973 | POGZ | c.2946A>G (p.Gly982=) c.2739A>G (p.Gly913=) c.2898A>G (p.Gly966=) c.2919A>G (p.Gly973=) n.3046A>G c.2613A>G (p.Gly871=) c.2871A>G (p.Gly957=) c.2766A>G (p.Gly922=) c.2712A>G (p.Gly904=) c.2790A>G (p.Gly930=) c.2541A>G (p.Gly847=) c.2772A>G (p.Gly924=) c.1698A>G (p.Gly566=) n.2753A>G | dbSNP |
| 1 | g.151406137T>G | CA420909972 | POGZ | c.2946A>C (p.Gly982=) c.2739A>C (p.Gly913=) c.2898A>C (p.Gly966=) c.2919A>C (p.Gly973=) n.3046A>C c.2613A>C (p.Gly871=) c.2871A>C (p.Gly957=) c.2766A>C (p.Gly922=) c.2712A>C (p.Gly904=) c.2790A>C (p.Gly930=) c.2541A>C (p.Gly847=) c.2772A>C (p.Gly924=) c.1698A>C (p.Gly566=) n.2753A>C | gnomAD v4 |
| 1 | g.151406137_151406146delinsTCCACCACTA | CA2479570522 | POGZ | c.2937_2946delinsTAGTGGTGGA (p.Gly979=) c.2730_2739delinsTAGTGGTGGA (p.Gly910=) c.2889_2898delinsTAGTGGTGGA (p.Gly963=) c.2910_2919delinsTAGTGGTGGA (p.Gly970=) n.3037_3046delinsTAGTGGTGGA c.2604_2613delinsTAGTGGTGGA (p.Gly868=) c.2862_2871delinsTAGTGGTGGA (p.Gly954=) c.2757_2766delinsTAGTGGTGGA (p.Gly919=) c.2703_2712delinsTAGTGGTGGA (p.Gly901=) c.2781_2790delinsTAGTGGTGGA (p.Gly927=) c.2532_2541delinsTAGTGGTGGA (p.Gly844=) c.2763_2772delinsTAGTGGTGGA (p.Gly921=) c.1689_1698delinsTAGTGGTGGA (p.Gly563=) n.2744_2753delinsTAGTGGTGGA | |
| 1 | g.151406138C>A | CA341947746 | POGZ | c.2945G>T (p.Gly982Val) c.2738G>T (p.Gly913Val) c.2897G>T (p.Gly966Val) c.2918G>T (p.Gly973Val) n.3045G>T c.2612G>T (p.Gly871Val) c.2870G>T (p.Gly957Val) c.2765G>T (p.Gly922Val) c.2711G>T (p.Gly904Val) c.2789G>T (p.Gly930Val) c.2540G>T (p.Gly847Val) c.2771G>T (p.Gly924Val) c.1697G>T (p.Gly566Val) n.2752G>T | |
| 1 | g.151406138C= | CA2479570523 | POGZ | c.2945G= (p.Gly982=) c.2738G= (p.Gly913=) c.2897G= (p.Gly966=) c.2918G= (p.Gly973=) n.3045G= c.2612G= (p.Gly871=) c.2870G= (p.Gly957=) c.2765G= (p.Gly922=) c.2711G= (p.Gly904=) c.2789G= (p.Gly930=) c.2540G= (p.Gly847=) c.2771G= (p.Gly924=) c.1697G= (p.Gly566=) n.2752G= | |
| 1 | g.151406138C>G | CA341947748 | POGZ | c.2945G>C (p.Gly982Ala) c.2738G>C (p.Gly913Ala) c.2897G>C (p.Gly966Ala) c.2918G>C (p.Gly973Ala) n.3045G>C c.2612G>C (p.Gly871Ala) c.2870G>C (p.Gly957Ala) c.2765G>C (p.Gly922Ala) c.2711G>C (p.Gly904Ala) c.2789G>C (p.Gly930Ala) c.2540G>C (p.Gly847Ala) c.2771G>C (p.Gly924Ala) c.1697G>C (p.Gly566Ala) n.2752G>C | |
| 1 | g.151406138C>T | CA341947750 | POGZ | c.2945G>A (p.Gly982Glu) c.2738G>A (p.Gly913Glu) c.2897G>A (p.Gly966Glu) c.2918G>A (p.Gly973Glu) n.3045G>A c.2612G>A (p.Gly871Glu) c.2870G>A (p.Gly957Glu) c.2765G>A (p.Gly922Glu) c.2711G>A (p.Gly904Glu) c.2789G>A (p.Gly930Glu) c.2540G>A (p.Gly847Glu) c.2771G>A (p.Gly924Glu) c.1697G>A (p.Gly566Glu) n.2752G>A | dbSNP |
| 1 | g.151406145_151406153del | CA420909979 | POGZ | c.2937_2945del (p.Ser980_Gly982del) c.2730_2738del (p.Ser911_Gly913del) c.2889_2897del (p.Ser964_Gly966del) c.2910_2918del (p.Ser971_Gly973del) n.3037_3045del c.2604_2612del (p.Ser869_Gly871del) c.2862_2870del (p.Ser955_Gly957del) c.2757_2765del (p.Ser920_Gly922del) c.2703_2711del (p.Ser902_Gly904del) c.2781_2789del (p.Ser928_Gly930del) c.2532_2540del (p.Ser845_Gly847del) c.2763_2771del (p.Ser922_Gly924del) c.1689_1697del (p.Ser564_Gly566del) n.2744_2752del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151406139C>A | CA341947754 | POGZ | c.2944G>T (p.Gly982Ter) c.2737G>T (p.Gly913Ter) c.2896G>T (p.Gly966Ter) c.2917G>T (p.Gly973Ter) n.3044G>T c.2611G>T (p.Gly871Ter) c.2869G>T (p.Gly957Ter) c.2764G>T (p.Gly922Ter) c.2710G>T (p.Gly904Ter) c.2788G>T (p.Gly930Ter) c.2539G>T (p.Gly847Ter) c.2770G>T (p.Gly924Ter) c.1696G>T (p.Gly566Ter) n.2751G>T | |
| 1 | g.151406139C>G | CA341947759 | POGZ | c.2944G>C (p.Gly982Arg) c.2737G>C (p.Gly913Arg) c.2896G>C (p.Gly966Arg) c.2917G>C (p.Gly973Arg) n.3044G>C c.2611G>C (p.Gly871Arg) c.2869G>C (p.Gly957Arg) c.2764G>C (p.Gly922Arg) c.2710G>C (p.Gly904Arg) c.2788G>C (p.Gly930Arg) c.2539G>C (p.Gly847Arg) c.2770G>C (p.Gly924Arg) c.1696G>C (p.Gly566Arg) n.2751G>C | |
| 1 | g.151406139C>T | CA341947756 | POGZ | c.2944G>A (p.Gly982Arg) c.2737G>A (p.Gly913Arg) c.2896G>A (p.Gly966Arg) c.2917G>A (p.Gly973Arg) n.3044G>A c.2611G>A (p.Gly871Arg) c.2869G>A (p.Gly957Arg) c.2764G>A (p.Gly922Arg) c.2710G>A (p.Gly904Arg) c.2788G>A (p.Gly930Arg) c.2539G>A (p.Gly847Arg) c.2770G>A (p.Gly924Arg) c.1696G>A (p.Gly566Arg) n.2751G>A |