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.151406294G>A | CA341949188 | POGZ | c.2789C>T (p.Thr930Ile) c.2582C>T (p.Thr861Ile) c.2741C>T (p.Thr914Ile) c.2762C>T (p.Thr921Ile) n.2889C>T c.2456C>T (p.Thr819Ile) c.2714C>T (p.Thr905Ile) c.2609C>T (p.Thr870Ile) c.941C>T (p.Thr314Ile) c.2555C>T (p.Thr852Ile) c.2633C>T (p.Thr878Ile) c.2384C>T (p.Thr795Ile) c.2615C>T (p.Thr872Ile) c.1541C>T (p.Thr514Ile) n.2596C>T | gnomAD v4 |
| 1 | g.151406294G>C | CA341949191 | POGZ | c.2789C>G (p.Thr930Ser) c.2582C>G (p.Thr861Ser) c.2741C>G (p.Thr914Ser) c.2762C>G (p.Thr921Ser) n.2889C>G c.2456C>G (p.Thr819Ser) c.2714C>G (p.Thr905Ser) c.2609C>G (p.Thr870Ser) c.941C>G (p.Thr314Ser) c.2555C>G (p.Thr852Ser) c.2633C>G (p.Thr878Ser) c.2384C>G (p.Thr795Ser) c.2615C>G (p.Thr872Ser) c.1541C>G (p.Thr514Ser) n.2596C>G | gnomAD v4 |
| 1 | g.151406294G>T | CA341949193 | POGZ | c.2789C>A (p.Thr930Asn) c.2582C>A (p.Thr861Asn) c.2741C>A (p.Thr914Asn) c.2762C>A (p.Thr921Asn) n.2889C>A c.2456C>A (p.Thr819Asn) c.2714C>A (p.Thr905Asn) c.2609C>A (p.Thr870Asn) c.941C>A (p.Thr314Asn) c.2555C>A (p.Thr852Asn) c.2633C>A (p.Thr878Asn) c.2384C>A (p.Thr795Asn) c.2615C>A (p.Thr872Asn) c.1541C>A (p.Thr514Asn) n.2596C>A | |
| 1 | g.151406295T>A | CA341949198 | POGZ | c.2788A>T (p.Thr930Ser) c.2581A>T (p.Thr861Ser) c.2740A>T (p.Thr914Ser) c.2761A>T (p.Thr921Ser) n.2888A>T c.2455A>T (p.Thr819Ser) c.2713A>T (p.Thr905Ser) c.2608A>T (p.Thr870Ser) c.940A>T (p.Thr314Ser) c.2554A>T (p.Thr852Ser) c.2632A>T (p.Thr878Ser) c.2383A>T (p.Thr795Ser) c.2614A>T (p.Thr872Ser) c.1540A>T (p.Thr514Ser) n.2595A>T | |
| 1 | g.151406295T>C | CA341949201 | POGZ | c.2788A>G (p.Thr930Ala) c.2581A>G (p.Thr861Ala) c.2740A>G (p.Thr914Ala) c.2761A>G (p.Thr921Ala) n.2888A>G c.2455A>G (p.Thr819Ala) c.2713A>G (p.Thr905Ala) c.2608A>G (p.Thr870Ala) c.940A>G (p.Thr314Ala) c.2554A>G (p.Thr852Ala) c.2632A>G (p.Thr878Ala) c.2383A>G (p.Thr795Ala) c.2614A>G (p.Thr872Ala) c.1540A>G (p.Thr514Ala) n.2595A>G | |
| 1 | g.151406295T>G | CA341949203 | POGZ | c.2788A>C (p.Thr930Pro) c.2581A>C (p.Thr861Pro) c.2740A>C (p.Thr914Pro) c.2761A>C (p.Thr921Pro) n.2888A>C c.2455A>C (p.Thr819Pro) c.2713A>C (p.Thr905Pro) c.2608A>C (p.Thr870Pro) c.940A>C (p.Thr314Pro) c.2554A>C (p.Thr852Pro) c.2632A>C (p.Thr878Pro) c.2383A>C (p.Thr795Pro) c.2614A>C (p.Thr872Pro) c.1540A>C (p.Thr514Pro) n.2595A>C | |
| 1 | g.151406296T>A | CA420910306 | POGZ | c.2787A>T (p.Ser929=) c.2580A>T (p.Ser860=) c.2739A>T (p.Ser913=) c.2760A>T (p.Ser920=) n.2887A>T c.2454A>T (p.Ser818=) c.2712A>T (p.Ser904=) c.2607A>T (p.Ser869=) c.939A>T (p.Ser313=) c.2553A>T (p.Ser851=) c.2631A>T (p.Ser877=) c.2382A>T (p.Ser794=) c.2613A>T (p.Ser871=) c.1539A>T (p.Ser513=) n.2594A>T | |
| 1 | g.151406296T>C | CA420910307 | POGZ | c.2787A>G (p.Ser929=) c.2580A>G (p.Ser860=) c.2739A>G (p.Ser913=) c.2760A>G (p.Ser920=) n.2887A>G c.2454A>G (p.Ser818=) c.2712A>G (p.Ser904=) c.2607A>G (p.Ser869=) c.939A>G (p.Ser313=) c.2553A>G (p.Ser851=) c.2631A>G (p.Ser877=) c.2382A>G (p.Ser794=) c.2613A>G (p.Ser871=) c.1539A>G (p.Ser513=) n.2594A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151406296T>G | CA420910308 | POGZ | c.2787A>C (p.Ser929=) c.2580A>C (p.Ser860=) c.2739A>C (p.Ser913=) c.2760A>C (p.Ser920=) n.2887A>C c.2454A>C (p.Ser818=) c.2712A>C (p.Ser904=) c.2607A>C (p.Ser869=) c.939A>C (p.Ser313=) c.2553A>C (p.Ser851=) c.2631A>C (p.Ser877=) c.2382A>C (p.Ser794=) c.2613A>C (p.Ser871=) c.1539A>C (p.Ser513=) n.2594A>C | |
| 1 | g.151406296T= | CA2479570593 | POGZ | c.2787A= (p.Ser929=) c.2580A= (p.Ser860=) c.2739A= (p.Ser913=) c.2760A= (p.Ser920=) n.2887A= c.2454A= (p.Ser818=) c.2712A= (p.Ser904=) c.2607A= (p.Ser869=) c.939A= (p.Ser313=) c.2553A= (p.Ser851=) c.2631A= (p.Ser877=) c.2382A= (p.Ser794=) c.2613A= (p.Ser871=) c.1539A= (p.Ser513=) n.2594A= | |
| 1 | g.151406297G>A | CA341949208 | POGZ | c.2786C>T (p.Ser929Leu) c.2579C>T (p.Ser860Leu) c.2738C>T (p.Ser913Leu) c.2759C>T (p.Ser920Leu) n.2886C>T c.2453C>T (p.Ser818Leu) c.2711C>T (p.Ser904Leu) c.2606C>T (p.Ser869Leu) c.938C>T (p.Ser313Leu) c.2552C>T (p.Ser851Leu) c.2630C>T (p.Ser877Leu) c.2381C>T (p.Ser794Leu) c.2612C>T (p.Ser871Leu) c.1538C>T (p.Ser513Leu) n.2593C>T | |
| 1 | g.151406297G>C | CA341949211 | POGZ | c.2786C>G (p.Ser929Ter) c.2579C>G (p.Ser860Ter) c.2738C>G (p.Ser913Ter) c.2759C>G (p.Ser920Ter) n.2886C>G c.2453C>G (p.Ser818Ter) c.2711C>G (p.Ser904Ter) c.2606C>G (p.Ser869Ter) c.938C>G (p.Ser313Ter) c.2552C>G (p.Ser851Ter) c.2630C>G (p.Ser877Ter) c.2381C>G (p.Ser794Ter) c.2612C>G (p.Ser871Ter) c.1538C>G (p.Ser513Ter) n.2593C>G | |
| 1 | g.151406297G>T | CA341949214 | POGZ | c.2786C>A (p.Ser929Ter) c.2579C>A (p.Ser860Ter) c.2738C>A (p.Ser913Ter) c.2759C>A (p.Ser920Ter) n.2886C>A c.2453C>A (p.Ser818Ter) c.2711C>A (p.Ser904Ter) c.2606C>A (p.Ser869Ter) c.938C>A (p.Ser313Ter) c.2552C>A (p.Ser851Ter) c.2630C>A (p.Ser877Ter) c.2381C>A (p.Ser794Ter) c.2612C>A (p.Ser871Ter) c.1538C>A (p.Ser513Ter) n.2593C>A | |
| 1 | g.151406298A>C | CA341949221 | POGZ | c.2785T>G (p.Ser929Ala) c.2578T>G (p.Ser860Ala) c.2737T>G (p.Ser913Ala) c.2758T>G (p.Ser920Ala) n.2885T>G c.2452T>G (p.Ser818Ala) c.2710T>G (p.Ser904Ala) c.2605T>G (p.Ser869Ala) c.937T>G (p.Ser313Ala) c.2551T>G (p.Ser851Ala) c.2629T>G (p.Ser877Ala) c.2380T>G (p.Ser794Ala) c.2611T>G (p.Ser871Ala) c.1537T>G (p.Ser513Ala) n.2592T>G | |
| 1 | g.151406298A>G | CA341949219 | POGZ | c.2785T>C (p.Ser929Pro) c.2578T>C (p.Ser860Pro) c.2737T>C (p.Ser913Pro) c.2758T>C (p.Ser920Pro) n.2885T>C c.2452T>C (p.Ser818Pro) c.2710T>C (p.Ser904Pro) c.2605T>C (p.Ser869Pro) c.937T>C (p.Ser313Pro) c.2551T>C (p.Ser851Pro) c.2629T>C (p.Ser877Pro) c.2380T>C (p.Ser794Pro) c.2611T>C (p.Ser871Pro) c.1537T>C (p.Ser513Pro) n.2592T>C | |
| 1 | g.151406298A>T | CA341949218 | POGZ | c.2785T>A (p.Ser929Thr) c.2578T>A (p.Ser860Thr) c.2737T>A (p.Ser913Thr) c.2758T>A (p.Ser920Thr) n.2885T>A c.2452T>A (p.Ser818Thr) c.2710T>A (p.Ser904Thr) c.2605T>A (p.Ser869Thr) c.937T>A (p.Ser313Thr) c.2551T>A (p.Ser851Thr) c.2629T>A (p.Ser877Thr) c.2380T>A (p.Ser794Thr) c.2611T>A (p.Ser871Thr) c.1537T>A (p.Ser513Thr) n.2592T>A | |
| 1 | g.151406299G>A | CA420910316 | POGZ | c.2784C>T (p.Ala928=) c.2577C>T (p.Ala859=) c.2736C>T (p.Ala912=) c.2757C>T (p.Ala919=) n.2884C>T c.2451C>T (p.Ala817=) c.2709C>T (p.Ala903=) c.2604C>T (p.Ala868=) c.936C>T (p.Ala312=) c.2550C>T (p.Ala850=) c.2628C>T (p.Ala876=) c.2379C>T (p.Ala793=) c.2610C>T (p.Ala870=) c.1536C>T (p.Ala512=) n.2591C>T | gnomAD v4 |
| 1 | g.151406299G>C | CA420910317 | POGZ | c.2784C>G (p.Ala928=) c.2577C>G (p.Ala859=) c.2736C>G (p.Ala912=) c.2757C>G (p.Ala919=) n.2884C>G c.2451C>G (p.Ala817=) c.2709C>G (p.Ala903=) c.2604C>G (p.Ala868=) c.936C>G (p.Ala312=) c.2550C>G (p.Ala850=) c.2628C>G (p.Ala876=) c.2379C>G (p.Ala793=) c.2610C>G (p.Ala870=) c.1536C>G (p.Ala512=) n.2591C>G | |
| 1 | g.151406299G>T | CA420910318 | POGZ | c.2784C>A (p.Ala928=) c.2577C>A (p.Ala859=) c.2736C>A (p.Ala912=) c.2757C>A (p.Ala919=) n.2884C>A c.2451C>A (p.Ala817=) c.2709C>A (p.Ala903=) c.2604C>A (p.Ala868=) c.936C>A (p.Ala312=) c.2550C>A (p.Ala850=) c.2628C>A (p.Ala876=) c.2379C>A (p.Ala793=) c.2610C>A (p.Ala870=) c.1536C>A (p.Ala512=) n.2591C>A | |
| 1 | g.151406300G>A | CA341949228 | POGZ | c.2783C>T (p.Ala928Val) c.2576C>T (p.Ala859Val) c.2735C>T (p.Ala912Val) c.2756C>T (p.Ala919Val) n.2883C>T c.2450C>T (p.Ala817Val) c.2708C>T (p.Ala903Val) c.2603C>T (p.Ala868Val) c.935C>T (p.Ala312Val) c.2549C>T (p.Ala850Val) c.2627C>T (p.Ala876Val) c.2378C>T (p.Ala793Val) c.2609C>T (p.Ala870Val) c.1535C>T (p.Ala512Val) n.2590C>T | dbSNP |
| 1 | g.151406300G>C | CA341949230 | POGZ | c.2783C>G (p.Ala928Gly) c.2576C>G (p.Ala859Gly) c.2735C>G (p.Ala912Gly) c.2756C>G (p.Ala919Gly) n.2883C>G c.2450C>G (p.Ala817Gly) c.2708C>G (p.Ala903Gly) c.2603C>G (p.Ala868Gly) c.935C>G (p.Ala312Gly) c.2549C>G (p.Ala850Gly) c.2627C>G (p.Ala876Gly) c.2378C>G (p.Ala793Gly) c.2609C>G (p.Ala870Gly) c.1535C>G (p.Ala512Gly) n.2590C>G | |
| 1 | g.151406300G= | CA2479570594 | POGZ | c.2783C= (p.Ala928=) c.2576C= (p.Ala859=) c.2735C= (p.Ala912=) c.2756C= (p.Ala919=) n.2883C= c.2450C= (p.Ala817=) c.2708C= (p.Ala903=) c.2603C= (p.Ala868=) c.935C= (p.Ala312=) c.2549C= (p.Ala850=) c.2627C= (p.Ala876=) c.2378C= (p.Ala793=) c.2609C= (p.Ala870=) c.1535C= (p.Ala512=) n.2590C= | |
| 1 | g.151406300G>T | CA341949233 | POGZ | c.2783C>A (p.Ala928Asp) c.2576C>A (p.Ala859Asp) c.2735C>A (p.Ala912Asp) c.2756C>A (p.Ala919Asp) n.2883C>A c.2450C>A (p.Ala817Asp) c.2708C>A (p.Ala903Asp) c.2603C>A (p.Ala868Asp) c.935C>A (p.Ala312Asp) c.2549C>A (p.Ala850Asp) c.2627C>A (p.Ala876Asp) c.2378C>A (p.Ala793Asp) c.2609C>A (p.Ala870Asp) c.1535C>A (p.Ala512Asp) n.2590C>A | |
| 1 | g.151406301C>A | CA341949236 | POGZ | c.2782G>T (p.Ala928Ser) c.2575G>T (p.Ala859Ser) c.2734G>T (p.Ala912Ser) c.2755G>T (p.Ala919Ser) n.2882G>T c.2449G>T (p.Ala817Ser) c.2707G>T (p.Ala903Ser) c.2602G>T (p.Ala868Ser) c.934G>T (p.Ala312Ser) c.2548G>T (p.Ala850Ser) c.2626G>T (p.Ala876Ser) c.2377G>T (p.Ala793Ser) c.2608G>T (p.Ala870Ser) c.1534G>T (p.Ala512Ser) n.2589G>T | dbSNP |
| 1 | g.151406301C= | CA2479570595 | POGZ | c.2782G= (p.Ala928=) c.2575G= (p.Ala859=) c.2734G= (p.Ala912=) c.2755G= (p.Ala919=) n.2882G= c.2449G= (p.Ala817=) c.2707G= (p.Ala903=) c.2602G= (p.Ala868=) c.934G= (p.Ala312=) c.2548G= (p.Ala850=) c.2626G= (p.Ala876=) c.2377G= (p.Ala793=) c.2608G= (p.Ala870=) c.1534G= (p.Ala512=) n.2589G= | |
| 1 | g.151406301C>G | CA341949238 | POGZ | c.2782G>C (p.Ala928Pro) c.2575G>C (p.Ala859Pro) c.2734G>C (p.Ala912Pro) c.2755G>C (p.Ala919Pro) n.2882G>C c.2449G>C (p.Ala817Pro) c.2707G>C (p.Ala903Pro) c.2602G>C (p.Ala868Pro) c.934G>C (p.Ala312Pro) c.2548G>C (p.Ala850Pro) c.2626G>C (p.Ala876Pro) c.2377G>C (p.Ala793Pro) c.2608G>C (p.Ala870Pro) c.1534G>C (p.Ala512Pro) n.2589G>C | |
| 1 | g.151406301C>T | CA341949240 | POGZ | c.2782G>A (p.Ala928Thr) c.2575G>A (p.Ala859Thr) c.2734G>A (p.Ala912Thr) c.2755G>A (p.Ala919Thr) n.2882G>A c.2449G>A (p.Ala817Thr) c.2707G>A (p.Ala903Thr) c.2602G>A (p.Ala868Thr) c.934G>A (p.Ala312Thr) c.2548G>A (p.Ala850Thr) c.2626G>A (p.Ala876Thr) c.2377G>A (p.Ala793Thr) c.2608G>A (p.Ala870Thr) c.1534G>A (p.Ala512Thr) n.2589G>A | |
| 1 | g.151406302T>A | CA420910324 | POGZ | c.2781A>T (p.Pro927=) c.2574A>T (p.Pro858=) c.2733A>T (p.Pro911=) c.2754A>T (p.Pro918=) n.2881A>T c.2448A>T (p.Pro816=) c.2706A>T (p.Pro902=) c.2601A>T (p.Pro867=) c.933A>T (p.Pro311=) c.2547A>T (p.Pro849=) c.2625A>T (p.Pro875=) c.2376A>T (p.Pro792=) c.2607A>T (p.Pro869=) c.1533A>T (p.Pro511=) n.2588A>T | |
| 1 | g.151406302T>C | CA420910325 | POGZ | c.2781A>G (p.Pro927=) c.2574A>G (p.Pro858=) c.2733A>G (p.Pro911=) c.2754A>G (p.Pro918=) n.2881A>G c.2448A>G (p.Pro816=) c.2706A>G (p.Pro902=) c.2601A>G (p.Pro867=) c.933A>G (p.Pro311=) c.2547A>G (p.Pro849=) c.2625A>G (p.Pro875=) c.2376A>G (p.Pro792=) c.2607A>G (p.Pro869=) c.1533A>G (p.Pro511=) n.2588A>G | |
| 1 | g.151406302T>G | CA420910327 | POGZ | c.2781A>C (p.Pro927=) c.2574A>C (p.Pro858=) c.2733A>C (p.Pro911=) c.2754A>C (p.Pro918=) n.2881A>C c.2448A>C (p.Pro816=) c.2706A>C (p.Pro902=) c.2601A>C (p.Pro867=) c.933A>C (p.Pro311=) c.2547A>C (p.Pro849=) c.2625A>C (p.Pro875=) c.2376A>C (p.Pro792=) c.2607A>C (p.Pro869=) c.1533A>C (p.Pro511=) n.2588A>C | |
| 1 | g.151406303G>A | CA341949244 | POGZ | c.2780C>T (p.Pro927Leu) c.2573C>T (p.Pro858Leu) c.2732C>T (p.Pro911Leu) c.2753C>T (p.Pro918Leu) n.2880C>T c.2447C>T (p.Pro816Leu) c.2705C>T (p.Pro902Leu) c.2600C>T (p.Pro867Leu) c.932C>T (p.Pro311Leu) c.2546C>T (p.Pro849Leu) c.2624C>T (p.Pro875Leu) c.2375C>T (p.Pro792Leu) c.2606C>T (p.Pro869Leu) c.1532C>T (p.Pro511Leu) n.2587C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.151406303G>C | CA341949245 | POGZ | c.2780C>G (p.Pro927Arg) c.2573C>G (p.Pro858Arg) c.2732C>G (p.Pro911Arg) c.2753C>G (p.Pro918Arg) n.2880C>G c.2447C>G (p.Pro816Arg) c.2705C>G (p.Pro902Arg) c.2600C>G (p.Pro867Arg) c.932C>G (p.Pro311Arg) c.2546C>G (p.Pro849Arg) c.2624C>G (p.Pro875Arg) c.2375C>G (p.Pro792Arg) c.2606C>G (p.Pro869Arg) c.1532C>G (p.Pro511Arg) n.2587C>G | |
| 1 | g.151406303G= | CA2479570596 | POGZ | c.2780C= (p.Pro927=) c.2573C= (p.Pro858=) c.2732C= (p.Pro911=) c.2753C= (p.Pro918=) n.2880C= c.2447C= (p.Pro816=) c.2705C= (p.Pro902=) c.2600C= (p.Pro867=) c.932C= (p.Pro311=) c.2546C= (p.Pro849=) c.2624C= (p.Pro875=) c.2375C= (p.Pro792=) c.2606C= (p.Pro869=) c.1532C= (p.Pro511=) n.2587C= | |
| 1 | g.151406303G>T | CA341949246 | POGZ | c.2780C>A (p.Pro927Gln) c.2573C>A (p.Pro858Gln) c.2732C>A (p.Pro911Gln) c.2753C>A (p.Pro918Gln) n.2880C>A c.2447C>A (p.Pro816Gln) c.2705C>A (p.Pro902Gln) c.2600C>A (p.Pro867Gln) c.932C>A (p.Pro311Gln) c.2546C>A (p.Pro849Gln) c.2624C>A (p.Pro875Gln) c.2375C>A (p.Pro792Gln) c.2606C>A (p.Pro869Gln) c.1532C>A (p.Pro511Gln) n.2587C>A | |
| 1 | g.151406304G>A | CA341949250 | POGZ | c.2779C>T (p.Pro927Ser) c.2572C>T (p.Pro858Ser) c.2731C>T (p.Pro911Ser) c.2752C>T (p.Pro918Ser) n.2879C>T c.2446C>T (p.Pro816Ser) c.2704C>T (p.Pro902Ser) c.2599C>T (p.Pro867Ser) c.931C>T (p.Pro311Ser) c.2545C>T (p.Pro849Ser) c.2623C>T (p.Pro875Ser) c.2374C>T (p.Pro792Ser) c.2605C>T (p.Pro869Ser) c.1531C>T (p.Pro511Ser) n.2586C>T | |
| 1 | g.151406304G>C | CA341949253 | POGZ | c.2779C>G (p.Pro927Ala) c.2572C>G (p.Pro858Ala) c.2731C>G (p.Pro911Ala) c.2752C>G (p.Pro918Ala) n.2879C>G c.2446C>G (p.Pro816Ala) c.2704C>G (p.Pro902Ala) c.2599C>G (p.Pro867Ala) c.931C>G (p.Pro311Ala) c.2545C>G (p.Pro849Ala) c.2623C>G (p.Pro875Ala) c.2374C>G (p.Pro792Ala) c.2605C>G (p.Pro869Ala) c.1531C>G (p.Pro511Ala) n.2586C>G | |
| 1 | g.151406304G>T | CA341949256 | POGZ | c.2779C>A (p.Pro927Thr) c.2572C>A (p.Pro858Thr) c.2731C>A (p.Pro911Thr) c.2752C>A (p.Pro918Thr) n.2879C>A c.2446C>A (p.Pro816Thr) c.2704C>A (p.Pro902Thr) c.2599C>A (p.Pro867Thr) c.931C>A (p.Pro311Thr) c.2545C>A (p.Pro849Thr) c.2623C>A (p.Pro875Thr) c.2374C>A (p.Pro792Thr) c.2605C>A (p.Pro869Thr) c.1531C>A (p.Pro511Thr) n.2586C>A | |
| 1 | g.151406305T>A | CA420910333 | POGZ | c.2778A>T (p.Ser926=) c.2571A>T (p.Ser857=) c.2730A>T (p.Ser910=) c.2751A>T (p.Ser917=) n.2878A>T c.2445A>T (p.Ser815=) c.2703A>T (p.Ser901=) c.2598A>T (p.Ser866=) c.930A>T (p.Ser310=) c.2544A>T (p.Ser848=) c.2622A>T (p.Ser874=) c.2373A>T (p.Ser791=) c.2604A>T (p.Ser868=) c.1530A>T (p.Ser510=) n.2585A>T | |
| 1 | g.151406305T>C | CA420910335 | POGZ | c.2778A>G (p.Ser926=) c.2571A>G (p.Ser857=) c.2730A>G (p.Ser910=) c.2751A>G (p.Ser917=) n.2878A>G c.2445A>G (p.Ser815=) c.2703A>G (p.Ser901=) c.2598A>G (p.Ser866=) c.930A>G (p.Ser310=) c.2544A>G (p.Ser848=) c.2622A>G (p.Ser874=) c.2373A>G (p.Ser791=) c.2604A>G (p.Ser868=) c.1530A>G (p.Ser510=) n.2585A>G | |
| 1 | g.151406305T>G | CA1091074 | POGZ | c.2778A>C (p.Ser926=) c.2571A>C (p.Ser857=) c.2730A>C (p.Ser910=) c.2751A>C (p.Ser917=) n.2878A>C c.2445A>C (p.Ser815=) c.2703A>C (p.Ser901=) c.2598A>C (p.Ser866=) c.930A>C (p.Ser310=) c.2544A>C (p.Ser848=) c.2622A>C (p.Ser874=) c.2373A>C (p.Ser791=) c.2604A>C (p.Ser868=) c.1530A>C (p.Ser510=) n.2585A>C | dbSNP ExAC gnomAD v2 |
| 1 | g.151406305T= | CA2479570597 | POGZ | c.2778A= (p.Ser926=) c.2571A= (p.Ser857=) c.2730A= (p.Ser910=) c.2751A= (p.Ser917=) n.2878A= c.2445A= (p.Ser815=) c.2703A= (p.Ser901=) c.2598A= (p.Ser866=) c.930A= (p.Ser310=) c.2544A= (p.Ser848=) c.2622A= (p.Ser874=) c.2373A= (p.Ser791=) c.2604A= (p.Ser868=) c.1530A= (p.Ser510=) n.2585A= | |
| 1 | g.151406306G>A | CA341949263 | POGZ | c.2777C>T (p.Ser926Leu) c.2570C>T (p.Ser857Leu) c.2729C>T (p.Ser910Leu) c.2750C>T (p.Ser917Leu) n.2877C>T c.2444C>T (p.Ser815Leu) c.2702C>T (p.Ser901Leu) c.2597C>T (p.Ser866Leu) c.929C>T (p.Ser310Leu) c.2543C>T (p.Ser848Leu) c.2621C>T (p.Ser874Leu) c.2372C>T (p.Ser791Leu) c.2603C>T (p.Ser868Leu) c.1529C>T (p.Ser510Leu) n.2584C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151406306G>C | CA341949262 | POGZ | c.2777C>G (p.Ser926Ter) c.2570C>G (p.Ser857Ter) c.2729C>G (p.Ser910Ter) c.2750C>G (p.Ser917Ter) n.2877C>G c.2444C>G (p.Ser815Ter) c.2702C>G (p.Ser901Ter) c.2597C>G (p.Ser866Ter) c.929C>G (p.Ser310Ter) c.2543C>G (p.Ser848Ter) c.2621C>G (p.Ser874Ter) c.2372C>G (p.Ser791Ter) c.2603C>G (p.Ser868Ter) c.1529C>G (p.Ser510Ter) n.2584C>G | ClinVar |
| 1 | g.151406306G= | CA2479570598 | POGZ | c.2777C= (p.Ser926=) c.2570C= (p.Ser857=) c.2729C= (p.Ser910=) c.2750C= (p.Ser917=) n.2877C= c.2444C= (p.Ser815=) c.2702C= (p.Ser901=) c.2597C= (p.Ser866=) c.929C= (p.Ser310=) c.2543C= (p.Ser848=) c.2621C= (p.Ser874=) c.2372C= (p.Ser791=) c.2603C= (p.Ser868=) c.1529C= (p.Ser510=) n.2584C= | |
| 1 | g.151406306G>T | CA341949261 | POGZ | c.2777C>A (p.Ser926Ter) c.2570C>A (p.Ser857Ter) c.2729C>A (p.Ser910Ter) c.2750C>A (p.Ser917Ter) n.2877C>A c.2444C>A (p.Ser815Ter) c.2702C>A (p.Ser901Ter) c.2597C>A (p.Ser866Ter) c.929C>A (p.Ser310Ter) c.2543C>A (p.Ser848Ter) c.2621C>A (p.Ser874Ter) c.2372C>A (p.Ser791Ter) c.2603C>A (p.Ser868Ter) c.1529C>A (p.Ser510Ter) n.2584C>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.151406307A= | CA2479570599 | POGZ | c.2776T= (p.Ser926=) c.2569T= (p.Ser857=) c.2728T= (p.Ser910=) c.2749T= (p.Ser917=) n.2876T= c.2443T= (p.Ser815=) c.2701T= (p.Ser901=) c.2596T= (p.Ser866=) c.928T= (p.Ser310=) c.2542T= (p.Ser848=) c.2620T= (p.Ser874=) c.2371T= (p.Ser791=) c.2602T= (p.Ser868=) c.1528T= (p.Ser510=) n.2583T= | |
| 1 | g.151406307A>C | CA341949264 | POGZ | c.2776T>G (p.Ser926Ala) c.2569T>G (p.Ser857Ala) c.2728T>G (p.Ser910Ala) c.2749T>G (p.Ser917Ala) n.2876T>G c.2443T>G (p.Ser815Ala) c.2701T>G (p.Ser901Ala) c.2596T>G (p.Ser866Ala) c.928T>G (p.Ser310Ala) c.2542T>G (p.Ser848Ala) c.2620T>G (p.Ser874Ala) c.2371T>G (p.Ser791Ala) c.2602T>G (p.Ser868Ala) c.1528T>G (p.Ser510Ala) n.2583T>G | dbSNP gnomAD v4 |
| 1 | g.151406307A>G | CA341949265 | POGZ | c.2776T>C (p.Ser926Pro) c.2569T>C (p.Ser857Pro) c.2728T>C (p.Ser910Pro) c.2749T>C (p.Ser917Pro) n.2876T>C c.2443T>C (p.Ser815Pro) c.2701T>C (p.Ser901Pro) c.2596T>C (p.Ser866Pro) c.928T>C (p.Ser310Pro) c.2542T>C (p.Ser848Pro) c.2620T>C (p.Ser874Pro) c.2371T>C (p.Ser791Pro) c.2602T>C (p.Ser868Pro) c.1528T>C (p.Ser510Pro) n.2583T>C | dbSNP |
| 1 | g.151406307A>T | CA341949268 | POGZ | c.2776T>A (p.Ser926Thr) c.2569T>A (p.Ser857Thr) c.2728T>A (p.Ser910Thr) c.2749T>A (p.Ser917Thr) n.2876T>A c.2443T>A (p.Ser815Thr) c.2701T>A (p.Ser901Thr) c.2596T>A (p.Ser866Thr) c.928T>A (p.Ser310Thr) c.2542T>A (p.Ser848Thr) c.2620T>A (p.Ser874Thr) c.2371T>A (p.Ser791Thr) c.2602T>A (p.Ser868Thr) c.1528T>A (p.Ser510Thr) n.2583T>A | gnomAD v4 |
| 1 | g.151406308T>A | CA1091075 | POGZ | c.2775A>T (p.Pro925=) c.2568A>T (p.Pro856=) c.2727A>T (p.Pro909=) c.2748A>T (p.Pro916=) n.2875A>T c.2442A>T (p.Pro814=) c.2700A>T (p.Pro900=) c.2595A>T (p.Pro865=) c.927A>T (p.Pro309=) c.2541A>T (p.Pro847=) c.2619A>T (p.Pro873=) c.2370A>T (p.Pro790=) c.2601A>T (p.Pro867=) c.1527A>T (p.Pro509=) n.2582A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |