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.151406393_151406394delinsGT | CA2479570640 | POGZ | c.2689_2690delinsAC (p.Thr897=) c.2482_2483delinsAC (p.Thr828=) c.2641_2642delinsAC (p.Thr881=) c.2662_2663delinsAC (p.Thr888=) n.2789_2790delinsAC c.2356_2357delinsAC (p.Thr786=) c.2614_2615delinsAC (p.Thr872=) c.2509_2510delinsAC (p.Thr837=) c.841_842delinsAC (p.Thr281=) c.2455_2456delinsAC (p.Thr819=) c.2533_2534delinsAC (p.Thr845=) c.2284_2285delinsAC (p.Thr762=) n.2469_2470delinsAC c.2515_2516delinsAC (p.Thr839=) c.1441_1442delinsAC (p.Thr481=) n.2496_2497delinsAC | |
| 1 | g.151406394del | CA319615 | POGZ | c.2689del (p.Thr897LeufsTer7) c.2482del (p.Thr828LeufsTer7) c.2641del (p.Thr881LeufsTer7) c.2662del (p.Thr888LeufsTer7) n.2789del c.2356del (p.Thr786LeufsTer7) c.2614del (p.Thr872LeufsTer7) c.2509del (p.Thr837LeufsTer7) c.841del (p.Thr281LeufsTer7) c.2455del (p.Thr819LeufsTer7) c.2533del (p.Thr845LeufsTer7) c.2284del (p.Thr762LeufsTer7) n.2469del c.2515del (p.Thr839LeufsTer7) c.1441del (p.Thr481LeufsTer7) n.2496del | ClinVar dbSNP |
| 1 | g.151406394T>A | CA341949807 | POGZ | c.2689A>T (p.Thr897Ser) c.2482A>T (p.Thr828Ser) c.2641A>T (p.Thr881Ser) c.2662A>T (p.Thr888Ser) n.2789A>T c.2356A>T (p.Thr786Ser) c.2614A>T (p.Thr872Ser) c.2509A>T (p.Thr837Ser) c.841A>T (p.Thr281Ser) c.2455A>T (p.Thr819Ser) c.2533A>T (p.Thr845Ser) c.2284A>T (p.Thr762Ser) n.2469A>T c.2515A>T (p.Thr839Ser) c.1441A>T (p.Thr481Ser) n.2496A>T | |
| 1 | g.151406394T>C | CA341949800 | POGZ | c.2689A>G (p.Thr897Ala) c.2482A>G (p.Thr828Ala) c.2641A>G (p.Thr881Ala) c.2662A>G (p.Thr888Ala) n.2789A>G c.2356A>G (p.Thr786Ala) c.2614A>G (p.Thr872Ala) c.2509A>G (p.Thr837Ala) c.841A>G (p.Thr281Ala) c.2455A>G (p.Thr819Ala) c.2533A>G (p.Thr845Ala) c.2284A>G (p.Thr762Ala) n.2469A>G c.2515A>G (p.Thr839Ala) c.1441A>G (p.Thr481Ala) n.2496A>G | dbSNP gnomAD v4 |
| 1 | g.151406394T>G | CA341949803 | POGZ | c.2689A>C (p.Thr897Pro) c.2482A>C (p.Thr828Pro) c.2641A>C (p.Thr881Pro) c.2662A>C (p.Thr888Pro) n.2789A>C c.2356A>C (p.Thr786Pro) c.2614A>C (p.Thr872Pro) c.2509A>C (p.Thr837Pro) c.841A>C (p.Thr281Pro) c.2455A>C (p.Thr819Pro) c.2533A>C (p.Thr845Pro) c.2284A>C (p.Thr762Pro) n.2469A>C c.2515A>C (p.Thr839Pro) c.1441A>C (p.Thr481Pro) n.2496A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151406394T= | CA2479570641 | POGZ | c.2689A= (p.Thr897=) c.2482A= (p.Thr828=) c.2641A= (p.Thr881=) c.2662A= (p.Thr888=) n.2789A= c.2356A= (p.Thr786=) c.2614A= (p.Thr872=) c.2509A= (p.Thr837=) c.841A= (p.Thr281=) c.2455A= (p.Thr819=) c.2533A= (p.Thr845=) c.2284A= (p.Thr762=) n.2469A= c.2515A= (p.Thr839=) c.1441A= (p.Thr481=) n.2496A= | |
| 1 | g.151406395G>A | CA420909782 | POGZ | c.2688C>T (p.Pro896=) c.2481C>T (p.Pro827=) c.2640C>T (p.Pro880=) c.2661C>T (p.Pro887=) n.2788C>T c.2355C>T (p.Pro785=) c.2613C>T (p.Pro871=) c.2508C>T (p.Pro836=) c.840C>T (p.Pro280=) c.2454C>T (p.Pro818=) c.2532C>T (p.Pro844=) c.2283C>T (p.Pro761=) n.2468C>T c.2514C>T (p.Pro838=) c.1440C>T (p.Pro480=) n.2495C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.151406395G>C | CA420909784 | POGZ | c.2688C>G (p.Pro896=) c.2481C>G (p.Pro827=) c.2640C>G (p.Pro880=) c.2661C>G (p.Pro887=) n.2788C>G c.2355C>G (p.Pro785=) c.2613C>G (p.Pro871=) c.2508C>G (p.Pro836=) c.840C>G (p.Pro280=) c.2454C>G (p.Pro818=) c.2532C>G (p.Pro844=) c.2283C>G (p.Pro761=) n.2468C>G c.2514C>G (p.Pro838=) c.1440C>G (p.Pro480=) n.2495C>G | |
| 1 | g.151406395G= | CA2479570642 | POGZ | c.2688C= (p.Pro896=) c.2481C= (p.Pro827=) c.2640C= (p.Pro880=) c.2661C= (p.Pro887=) n.2788C= c.2355C= (p.Pro785=) c.2613C= (p.Pro871=) c.2508C= (p.Pro836=) c.840C= (p.Pro280=) c.2454C= (p.Pro818=) c.2532C= (p.Pro844=) c.2283C= (p.Pro761=) n.2468C= c.2514C= (p.Pro838=) c.1440C= (p.Pro480=) n.2495C= | |
| 1 | g.151406395G>T | CA420909790 | POGZ | c.2688C>A (p.Pro896=) c.2481C>A (p.Pro827=) c.2640C>A (p.Pro880=) c.2661C>A (p.Pro887=) n.2788C>A c.2355C>A (p.Pro785=) c.2613C>A (p.Pro871=) c.2508C>A (p.Pro836=) c.840C>A (p.Pro280=) c.2454C>A (p.Pro818=) c.2532C>A (p.Pro844=) c.2283C>A (p.Pro761=) n.2468C>A c.2514C>A (p.Pro838=) c.1440C>A (p.Pro480=) n.2495C>A | |
| 1 | g.151406396G>A | CA341949812 | POGZ | c.2687C>T (p.Pro896Leu) c.2480C>T (p.Pro827Leu) c.2639C>T (p.Pro880Leu) c.2660C>T (p.Pro887Leu) n.2787C>T c.2354C>T (p.Pro785Leu) c.2612C>T (p.Pro871Leu) c.2507C>T (p.Pro836Leu) c.839C>T (p.Pro280Leu) c.2453C>T (p.Pro818Leu) c.2531C>T (p.Pro844Leu) c.2282C>T (p.Pro761Leu) n.2467C>T c.2513C>T (p.Pro838Leu) c.1439C>T (p.Pro480Leu) n.2494C>T | |
| 1 | g.151406396G>C | CA341949815 | POGZ | c.2687C>G (p.Pro896Arg) c.2480C>G (p.Pro827Arg) c.2639C>G (p.Pro880Arg) c.2660C>G (p.Pro887Arg) n.2787C>G c.2354C>G (p.Pro785Arg) c.2612C>G (p.Pro871Arg) c.2507C>G (p.Pro836Arg) c.839C>G (p.Pro280Arg) c.2453C>G (p.Pro818Arg) c.2531C>G (p.Pro844Arg) c.2282C>G (p.Pro761Arg) n.2467C>G c.2513C>G (p.Pro838Arg) c.1439C>G (p.Pro480Arg) n.2494C>G | |
| 1 | g.151406396G>T | CA341949818 | POGZ | c.2687C>A (p.Pro896His) c.2480C>A (p.Pro827His) c.2639C>A (p.Pro880His) c.2660C>A (p.Pro887His) n.2787C>A c.2354C>A (p.Pro785His) c.2612C>A (p.Pro871His) c.2507C>A (p.Pro836His) c.839C>A (p.Pro280His) c.2453C>A (p.Pro818His) c.2531C>A (p.Pro844His) c.2282C>A (p.Pro761His) n.2467C>A c.2513C>A (p.Pro838His) c.1439C>A (p.Pro480His) n.2494C>A | |
| 1 | g.151406397G>A | CA341949823 | POGZ | c.2686C>T (p.Pro896Ser) c.2479C>T (p.Pro827Ser) c.2638C>T (p.Pro880Ser) c.2659C>T (p.Pro887Ser) n.2786C>T c.2353C>T (p.Pro785Ser) c.2611C>T (p.Pro871Ser) c.2506C>T (p.Pro836Ser) c.838C>T (p.Pro280Ser) c.2452C>T (p.Pro818Ser) c.2530C>T (p.Pro844Ser) c.2281C>T (p.Pro761Ser) n.2466C>T c.2512C>T (p.Pro838Ser) c.1438C>T (p.Pro480Ser) n.2493C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.151406397G>C | CA341949825 | POGZ | c.2686C>G (p.Pro896Ala) c.2479C>G (p.Pro827Ala) c.2638C>G (p.Pro880Ala) c.2659C>G (p.Pro887Ala) n.2786C>G c.2353C>G (p.Pro785Ala) c.2611C>G (p.Pro871Ala) c.2506C>G (p.Pro836Ala) c.838C>G (p.Pro280Ala) c.2452C>G (p.Pro818Ala) c.2530C>G (p.Pro844Ala) c.2281C>G (p.Pro761Ala) n.2466C>G c.2512C>G (p.Pro838Ala) c.1438C>G (p.Pro480Ala) n.2493C>G | |
| 1 | g.151406397G= | CA2479570643 | POGZ | c.2686C= (p.Pro896=) c.2479C= (p.Pro827=) c.2638C= (p.Pro880=) c.2659C= (p.Pro887=) n.2786C= c.2353C= (p.Pro785=) c.2611C= (p.Pro871=) c.2506C= (p.Pro836=) c.838C= (p.Pro280=) c.2452C= (p.Pro818=) c.2530C= (p.Pro844=) c.2281C= (p.Pro761=) n.2466C= c.2512C= (p.Pro838=) c.1438C= (p.Pro480=) n.2493C= | |
| 1 | g.151406397G>T | CA341949828 | POGZ | c.2686C>A (p.Pro896Thr) c.2479C>A (p.Pro827Thr) c.2638C>A (p.Pro880Thr) c.2659C>A (p.Pro887Thr) n.2786C>A c.2353C>A (p.Pro785Thr) c.2611C>A (p.Pro871Thr) c.2506C>A (p.Pro836Thr) c.838C>A (p.Pro280Thr) c.2452C>A (p.Pro818Thr) c.2530C>A (p.Pro844Thr) c.2281C>A (p.Pro761Thr) n.2466C>A c.2512C>A (p.Pro838Thr) c.1438C>A (p.Pro480Thr) n.2493C>A | |
| 1 | g.151406404_151406407del | CA2580611486 | POGZ | c.2683_2686del (p.Phe895ProfsTer8) c.2476_2479del (p.Phe826ProfsTer8) c.2635_2638del (p.Phe879ProfsTer8) c.2656_2659del (p.Phe886ProfsTer8) n.2783_2786del c.2350_2353del (p.Phe784ProfsTer8) c.2608_2611del (p.Phe870ProfsTer8) c.2503_2506del (p.Phe835ProfsTer8) c.835_838del (p.Phe279ProfsTer8) c.2449_2452del (p.Phe817ProfsTer8) c.2527_2530del (p.Phe843ProfsTer8) c.2278_2281del (p.Phe760ProfsTer8) n.2463_2466del c.2509_2512del (p.Phe837ProfsTer8) c.1435_1438del (p.Phe479ProfsTer8) n.2490_2493del | ClinVar dbSNP |
| 1 | g.151406398G>A | CA420909792 | POGZ | c.2685C>T (p.Phe895=) c.2478C>T (p.Phe826=) c.2637C>T (p.Phe879=) c.2658C>T (p.Phe886=) n.2785C>T c.2352C>T (p.Phe784=) c.2610C>T (p.Phe870=) c.2505C>T (p.Phe835=) c.837C>T (p.Phe279=) c.2451C>T (p.Phe817=) c.2529C>T (p.Phe843=) c.2280C>T (p.Phe760=) n.2465C>T c.2511C>T (p.Phe837=) c.1437C>T (p.Phe479=) n.2492C>T | gnomAD v4 |
| 1 | g.151406398G>C | CA341949832 | POGZ | c.2685C>G (p.Phe895Leu) c.2478C>G (p.Phe826Leu) c.2637C>G (p.Phe879Leu) c.2658C>G (p.Phe886Leu) n.2785C>G c.2352C>G (p.Phe784Leu) c.2610C>G (p.Phe870Leu) c.2505C>G (p.Phe835Leu) c.837C>G (p.Phe279Leu) c.2451C>G (p.Phe817Leu) c.2529C>G (p.Phe843Leu) c.2280C>G (p.Phe760Leu) n.2465C>G c.2511C>G (p.Phe837Leu) c.1437C>G (p.Phe479Leu) n.2492C>G | |
| 1 | g.151406398G= | CA2479570644 | POGZ | c.2685C= (p.Phe895=) c.2478C= (p.Phe826=) c.2637C= (p.Phe879=) c.2658C= (p.Phe886=) n.2785C= c.2352C= (p.Phe784=) c.2610C= (p.Phe870=) c.2505C= (p.Phe835=) c.837C= (p.Phe279=) c.2451C= (p.Phe817=) c.2529C= (p.Phe843=) c.2280C= (p.Phe760=) n.2465C= c.2511C= (p.Phe837=) c.1437C= (p.Phe479=) n.2492C= | |
| 1 | g.151406398G>T | CA29569487 | POGZ | c.2685C>A (p.Phe895Leu) c.2478C>A (p.Phe826Leu) c.2637C>A (p.Phe879Leu) c.2658C>A (p.Phe886Leu) n.2785C>A c.2352C>A (p.Phe784Leu) c.2610C>A (p.Phe870Leu) c.2505C>A (p.Phe835Leu) c.837C>A (p.Phe279Leu) c.2451C>A (p.Phe817Leu) c.2529C>A (p.Phe843Leu) c.2280C>A (p.Phe760Leu) n.2465C>A c.2511C>A (p.Phe837Leu) c.1437C>A (p.Phe479Leu) n.2492C>A | dbSNP |
| 1 | g.151406399A= | CA2479570645 | POGZ | c.2684T= (p.Phe895=) c.2477T= (p.Phe826=) c.2636T= (p.Phe879=) c.2657T= (p.Phe886=) n.2784T= c.2351T= (p.Phe784=) c.2609T= (p.Phe870=) c.2504T= (p.Phe835=) c.836T= (p.Phe279=) c.2450T= (p.Phe817=) c.2528T= (p.Phe843=) c.2279T= (p.Phe760=) n.2464T= c.2510T= (p.Phe837=) c.1436T= (p.Phe479=) n.2491T= | |
| 1 | g.151406399A>C | CA341949838 | POGZ | c.2684T>G (p.Phe895Cys) c.2477T>G (p.Phe826Cys) c.2636T>G (p.Phe879Cys) c.2657T>G (p.Phe886Cys) n.2784T>G c.2351T>G (p.Phe784Cys) c.2609T>G (p.Phe870Cys) c.2504T>G (p.Phe835Cys) c.836T>G (p.Phe279Cys) c.2450T>G (p.Phe817Cys) c.2528T>G (p.Phe843Cys) c.2279T>G (p.Phe760Cys) n.2464T>G c.2510T>G (p.Phe837Cys) c.1436T>G (p.Phe479Cys) n.2491T>G | |
| 1 | g.151406399A>G | CA341949840 | POGZ | c.2684T>C (p.Phe895Ser) c.2477T>C (p.Phe826Ser) c.2636T>C (p.Phe879Ser) c.2657T>C (p.Phe886Ser) n.2784T>C c.2351T>C (p.Phe784Ser) c.2609T>C (p.Phe870Ser) c.2504T>C (p.Phe835Ser) c.836T>C (p.Phe279Ser) c.2450T>C (p.Phe817Ser) c.2528T>C (p.Phe843Ser) c.2279T>C (p.Phe760Ser) n.2464T>C c.2510T>C (p.Phe837Ser) c.1436T>C (p.Phe479Ser) n.2491T>C | dbSNP |
| 1 | g.151406399A>T | CA341949841 | POGZ | c.2684T>A (p.Phe895Tyr) c.2477T>A (p.Phe826Tyr) c.2636T>A (p.Phe879Tyr) c.2657T>A (p.Phe886Tyr) n.2784T>A c.2351T>A (p.Phe784Tyr) c.2609T>A (p.Phe870Tyr) c.2504T>A (p.Phe835Tyr) c.836T>A (p.Phe279Tyr) c.2450T>A (p.Phe817Tyr) c.2528T>A (p.Phe843Tyr) c.2279T>A (p.Phe760Tyr) n.2464T>A c.2510T>A (p.Phe837Tyr) c.1436T>A (p.Phe479Tyr) n.2491T>A | |
| 1 | g.151406400A>C | CA341949847 | POGZ | c.2683T>G (p.Phe895Val) c.2476T>G (p.Phe826Val) c.2635T>G (p.Phe879Val) c.2656T>G (p.Phe886Val) n.2783T>G c.2350T>G (p.Phe784Val) c.2608T>G (p.Phe870Val) c.2503T>G (p.Phe835Val) c.835T>G (p.Phe279Val) c.2449T>G (p.Phe817Val) c.2527T>G (p.Phe843Val) c.2278T>G (p.Phe760Val) n.2463T>G c.2509T>G (p.Phe837Val) c.1435T>G (p.Phe479Val) n.2490T>G | |
| 1 | g.151406400A>G | CA341949849 | POGZ | c.2683T>C (p.Phe895Leu) c.2476T>C (p.Phe826Leu) c.2635T>C (p.Phe879Leu) c.2656T>C (p.Phe886Leu) n.2783T>C c.2350T>C (p.Phe784Leu) c.2608T>C (p.Phe870Leu) c.2503T>C (p.Phe835Leu) c.835T>C (p.Phe279Leu) c.2449T>C (p.Phe817Leu) c.2527T>C (p.Phe843Leu) c.2278T>C (p.Phe760Leu) n.2463T>C c.2509T>C (p.Phe837Leu) c.1435T>C (p.Phe479Leu) n.2490T>C | |
| 1 | g.151406400A>T | CA341949848 | POGZ | c.2683T>A (p.Phe895Ile) c.2476T>A (p.Phe826Ile) c.2635T>A (p.Phe879Ile) c.2656T>A (p.Phe886Ile) n.2783T>A c.2350T>A (p.Phe784Ile) c.2608T>A (p.Phe870Ile) c.2503T>A (p.Phe835Ile) c.835T>A (p.Phe279Ile) c.2449T>A (p.Phe817Ile) c.2527T>A (p.Phe843Ile) c.2278T>A (p.Phe760Ile) n.2463T>A c.2509T>A (p.Phe837Ile) c.1435T>A (p.Phe479Ile) n.2490T>A | |
| 1 | g.151406401G>A | CA420909804 | POGZ | c.2682C>T (p.Ser894=) c.2475C>T (p.Ser825=) c.2634C>T (p.Ser878=) c.2655C>T (p.Ser885=) n.2782C>T c.2349C>T (p.Ser783=) c.2607C>T (p.Ser869=) c.2502C>T (p.Ser834=) c.834C>T (p.Ser278=) c.2448C>T (p.Ser816=) c.2526C>T (p.Ser842=) c.2277C>T (p.Ser759=) n.2462C>T c.2508C>T (p.Ser836=) c.1434C>T (p.Ser478=) n.2489C>T | dbSNP gnomAD v4 |
| 1 | g.151406401G>C | CA1091088 | POGZ | c.2682C>G (p.Ser894=) c.2475C>G (p.Ser825=) c.2634C>G (p.Ser878=) c.2655C>G (p.Ser885=) n.2782C>G c.2349C>G (p.Ser783=) c.2607C>G (p.Ser869=) c.2502C>G (p.Ser834=) c.834C>G (p.Ser278=) c.2448C>G (p.Ser816=) c.2526C>G (p.Ser842=) c.2277C>G (p.Ser759=) n.2462C>G c.2508C>G (p.Ser836=) c.1434C>G (p.Ser478=) n.2489C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151406401G= | CA1141642798 | POGZ | c.2682C= (p.Ser894=) c.2475C= (p.Ser825=) c.2634C= (p.Ser878=) c.2655C= (p.Ser885=) n.2782C= c.2349C= (p.Ser783=) c.2607C= (p.Ser869=) c.2502C= (p.Ser834=) c.834C= (p.Ser278=) c.2448C= (p.Ser816=) c.2526C= (p.Ser842=) c.2277C= (p.Ser759=) n.2462C= c.2508C= (p.Ser836=) c.1434C= (p.Ser478=) n.2489C= | |
| 1 | g.151406401G>T | CA420909805 | POGZ | c.2682C>A (p.Ser894=) c.2475C>A (p.Ser825=) c.2634C>A (p.Ser878=) c.2655C>A (p.Ser885=) n.2782C>A c.2349C>A (p.Ser783=) c.2607C>A (p.Ser869=) c.2502C>A (p.Ser834=) c.834C>A (p.Ser278=) c.2448C>A (p.Ser816=) c.2526C>A (p.Ser842=) c.2277C>A (p.Ser759=) n.2462C>A c.2508C>A (p.Ser836=) c.1434C>A (p.Ser478=) n.2489C>A | gnomAD v4 |
| 1 | g.151406402G>A | CA341949856 | POGZ | c.2681C>T (p.Ser894Phe) c.2474C>T (p.Ser825Phe) c.2633C>T (p.Ser878Phe) c.2654C>T (p.Ser885Phe) n.2781C>T c.2348C>T (p.Ser783Phe) c.2606C>T (p.Ser869Phe) c.2501C>T (p.Ser834Phe) c.833C>T (p.Ser278Phe) c.2447C>T (p.Ser816Phe) c.2525C>T (p.Ser842Phe) c.2276C>T (p.Ser759Phe) n.2461C>T c.2507C>T (p.Ser836Phe) c.1433C>T (p.Ser478Phe) n.2488C>T | gnomAD v4 |
| 1 | g.151406402G>C | CA341949857 | POGZ | c.2681C>G (p.Ser894Cys) c.2474C>G (p.Ser825Cys) c.2633C>G (p.Ser878Cys) c.2654C>G (p.Ser885Cys) n.2781C>G c.2348C>G (p.Ser783Cys) c.2606C>G (p.Ser869Cys) c.2501C>G (p.Ser834Cys) c.833C>G (p.Ser278Cys) c.2447C>G (p.Ser816Cys) c.2525C>G (p.Ser842Cys) c.2276C>G (p.Ser759Cys) n.2461C>G c.2507C>G (p.Ser836Cys) c.1433C>G (p.Ser478Cys) n.2488C>G | gnomAD v4 |
| 1 | g.151406402G>T | CA341949858 | POGZ | c.2681C>A (p.Ser894Tyr) c.2474C>A (p.Ser825Tyr) c.2633C>A (p.Ser878Tyr) c.2654C>A (p.Ser885Tyr) n.2781C>A c.2348C>A (p.Ser783Tyr) c.2606C>A (p.Ser869Tyr) c.2501C>A (p.Ser834Tyr) c.833C>A (p.Ser278Tyr) c.2447C>A (p.Ser816Tyr) c.2525C>A (p.Ser842Tyr) c.2276C>A (p.Ser759Tyr) n.2461C>A c.2507C>A (p.Ser836Tyr) c.1433C>A (p.Ser478Tyr) n.2488C>A | gnomAD v4 |
| 1 | g.151406403A= | CA2479570646 | POGZ | c.2680T= (p.Ser894=) c.2473T= (p.Ser825=) c.2632T= (p.Ser878=) c.2653T= (p.Ser885=) n.2780T= c.2347T= (p.Ser783=) c.2605T= (p.Ser869=) c.2500T= (p.Ser834=) c.832T= (p.Ser278=) c.2446T= (p.Ser816=) c.2524T= (p.Ser842=) c.2275T= (p.Ser759=) n.2460T= c.2506T= (p.Ser836=) c.1432T= (p.Ser478=) n.2487T= | |
| 1 | g.151406403A>C | CA341949862 | POGZ | c.2680T>G (p.Ser894Ala) c.2473T>G (p.Ser825Ala) c.2632T>G (p.Ser878Ala) c.2653T>G (p.Ser885Ala) n.2780T>G c.2347T>G (p.Ser783Ala) c.2605T>G (p.Ser869Ala) c.2500T>G (p.Ser834Ala) c.832T>G (p.Ser278Ala) c.2446T>G (p.Ser816Ala) c.2524T>G (p.Ser842Ala) c.2275T>G (p.Ser759Ala) n.2460T>G c.2506T>G (p.Ser836Ala) c.1432T>G (p.Ser478Ala) n.2487T>G | |
| 1 | g.151406403A>G | CA29569503 | POGZ | c.2680T>C (p.Ser894Pro) c.2473T>C (p.Ser825Pro) c.2632T>C (p.Ser878Pro) c.2653T>C (p.Ser885Pro) n.2780T>C c.2347T>C (p.Ser783Pro) c.2605T>C (p.Ser869Pro) c.2500T>C (p.Ser834Pro) c.832T>C (p.Ser278Pro) c.2446T>C (p.Ser816Pro) c.2524T>C (p.Ser842Pro) c.2275T>C (p.Ser759Pro) n.2460T>C c.2506T>C (p.Ser836Pro) c.1432T>C (p.Ser478Pro) n.2487T>C | dbSNP gnomAD v4 |
| 1 | g.151406403A>T | CA341949864 | POGZ | c.2680T>A (p.Ser894Thr) c.2473T>A (p.Ser825Thr) c.2632T>A (p.Ser878Thr) c.2653T>A (p.Ser885Thr) n.2780T>A c.2347T>A (p.Ser783Thr) c.2605T>A (p.Ser869Thr) c.2500T>A (p.Ser834Thr) c.832T>A (p.Ser278Thr) c.2446T>A (p.Ser816Thr) c.2524T>A (p.Ser842Thr) c.2275T>A (p.Ser759Thr) n.2460T>A c.2506T>A (p.Ser836Thr) c.1432T>A (p.Ser478Thr) n.2487T>A | |
| 1 | g.151406403_151406406delinsAAGG | CA2479570647 | POGZ | c.2677_2680delinsCCTT (p.Pro893=) c.2470_2473delinsCCTT (p.Pro824=) c.2629_2632delinsCCTT (p.Pro877=) c.2650_2653delinsCCTT (p.Pro884=) n.2777_2780delinsCCTT c.2344_2347delinsCCTT (p.Pro782=) c.2602_2605delinsCCTT (p.Pro868=) c.2497_2500delinsCCTT (p.Pro833=) c.829_832delinsCCTT (p.Pro277=) c.2443_2446delinsCCTT (p.Pro815=) c.2521_2524delinsCCTT (p.Pro841=) c.2272_2275delinsCCTT (p.Pro758=) n.2457_2460delinsCCTT c.2503_2506delinsCCTT (p.Pro835=) c.1429_1432delinsCCTT (p.Pro477=) n.2484_2487delinsCCTT | |
| 1 | g.151406404A>C | CA420909818 | POGZ | c.2679T>G (p.Pro893=) c.2472T>G (p.Pro824=) c.2631T>G (p.Pro877=) c.2652T>G (p.Pro884=) n.2779T>G c.2346T>G (p.Pro782=) c.2604T>G (p.Pro868=) c.2499T>G (p.Pro833=) c.831T>G (p.Pro277=) c.2445T>G (p.Pro815=) c.2523T>G (p.Pro841=) c.2274T>G (p.Pro758=) n.2459T>G c.2505T>G (p.Pro835=) c.1431T>G (p.Pro477=) n.2486T>G | |
| 1 | g.151406404A>G | CA420909824 | POGZ | c.2679T>C (p.Pro893=) c.2472T>C (p.Pro824=) c.2631T>C (p.Pro877=) c.2652T>C (p.Pro884=) n.2779T>C c.2346T>C (p.Pro782=) c.2604T>C (p.Pro868=) c.2499T>C (p.Pro833=) c.831T>C (p.Pro277=) c.2445T>C (p.Pro815=) c.2523T>C (p.Pro841=) c.2274T>C (p.Pro758=) n.2459T>C c.2505T>C (p.Pro835=) c.1431T>C (p.Pro477=) n.2486T>C | gnomAD v4 |
| 1 | g.151406404A>T | CA420909826 | POGZ | c.2679T>A (p.Pro893=) c.2472T>A (p.Pro824=) c.2631T>A (p.Pro877=) c.2652T>A (p.Pro884=) n.2779T>A c.2346T>A (p.Pro782=) c.2604T>A (p.Pro868=) c.2499T>A (p.Pro833=) c.831T>A (p.Pro277=) c.2445T>A (p.Pro815=) c.2523T>A (p.Pro841=) c.2274T>A (p.Pro758=) n.2459T>A c.2505T>A (p.Pro835=) c.1431T>A (p.Pro477=) n.2486T>A | |
| 1 | g.151406410_151406412del | CA341949867 | POGZ | c.2677_2679del (p.Pro893del) c.2470_2472del (p.Pro824del) c.2629_2631del (p.Pro877del) c.2650_2652del (p.Pro884del) n.2777_2779del c.2344_2346del (p.Pro782del) c.2602_2604del (p.Pro868del) c.2497_2499del (p.Pro833del) c.829_831del (p.Pro277del) c.2443_2445del (p.Pro815del) c.2521_2523del (p.Pro841del) c.2272_2274del (p.Pro758del) n.2457_2459del c.2503_2505del (p.Pro835del) c.1429_1431del (p.Pro477del) n.2484_2486del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151406405G>A | CA341949869 | POGZ | c.2678C>T (p.Pro893Leu) c.2471C>T (p.Pro824Leu) c.2630C>T (p.Pro877Leu) c.2651C>T (p.Pro884Leu) n.2778C>T c.2345C>T (p.Pro782Leu) c.2603C>T (p.Pro868Leu) c.2498C>T (p.Pro833Leu) c.830C>T (p.Pro277Leu) c.2444C>T (p.Pro815Leu) c.2522C>T (p.Pro841Leu) c.2273C>T (p.Pro758Leu) n.2458C>T c.2504C>T (p.Pro835Leu) c.1430C>T (p.Pro477Leu) n.2485C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.151406405G>C | CA341949871 | POGZ | c.2678C>G (p.Pro893Arg) c.2471C>G (p.Pro824Arg) c.2630C>G (p.Pro877Arg) c.2651C>G (p.Pro884Arg) n.2778C>G c.2345C>G (p.Pro782Arg) c.2603C>G (p.Pro868Arg) c.2498C>G (p.Pro833Arg) c.830C>G (p.Pro277Arg) c.2444C>G (p.Pro815Arg) c.2522C>G (p.Pro841Arg) c.2273C>G (p.Pro758Arg) n.2458C>G c.2504C>G (p.Pro835Arg) c.1430C>G (p.Pro477Arg) n.2485C>G | |
| 1 | g.151406405G= | CA2479570648 | POGZ | c.2678C= (p.Pro893=) c.2471C= (p.Pro824=) c.2630C= (p.Pro877=) c.2651C= (p.Pro884=) n.2778C= c.2345C= (p.Pro782=) c.2603C= (p.Pro868=) c.2498C= (p.Pro833=) c.830C= (p.Pro277=) c.2444C= (p.Pro815=) c.2522C= (p.Pro841=) c.2273C= (p.Pro758=) n.2458C= c.2504C= (p.Pro835=) c.1430C= (p.Pro477=) n.2485C= | |
| 1 | g.151406405G>T | CA341949873 | POGZ | c.2678C>A (p.Pro893His) c.2471C>A (p.Pro824His) c.2630C>A (p.Pro877His) c.2651C>A (p.Pro884His) n.2778C>A c.2345C>A (p.Pro782His) c.2603C>A (p.Pro868His) c.2498C>A (p.Pro833His) c.830C>A (p.Pro277His) c.2444C>A (p.Pro815His) c.2522C>A (p.Pro841His) c.2273C>A (p.Pro758His) n.2458C>A c.2504C>A (p.Pro835His) c.1430C>A (p.Pro477His) n.2485C>A | |
| 1 | g.151406406G>A | CA341949880 | POGZ | c.2677C>T (p.Pro893Ser) c.2470C>T (p.Pro824Ser) c.2629C>T (p.Pro877Ser) c.2650C>T (p.Pro884Ser) n.2777C>T c.2344C>T (p.Pro782Ser) c.2602C>T (p.Pro868Ser) c.2497C>T (p.Pro833Ser) c.829C>T (p.Pro277Ser) c.2443C>T (p.Pro815Ser) c.2521C>T (p.Pro841Ser) c.2272C>T (p.Pro758Ser) n.2457C>T c.2503C>T (p.Pro835Ser) c.1429C>T (p.Pro477Ser) n.2484C>T |