Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398512_144398531dupCA2586970080ZEB2c.*2506_*2525dup (n.*2506_*2525dup)
c.1880_1899dup (p.Pro634Ter)
c.2657_2676dup (p.Pro893Ter)
n.2626_2645dup
c.2321_2340dup (p.Pro781Ter)
c.2732_2751dup (p.Pro918Ter)
c.*2374_*2393dup (n.*2374_*2393dup)
n.2757_2776dup
c.188_207dup (p.Pro70Ter)
c.2654_2673dup (p.Pro892Ter)
c.655+2669_655+2688dup (n.655+2669_655+2688dup)
c.1168-602_1168-583dup (n.1168-602_1168-583dup)
c.2585_2604dup (p.Pro869Ter)
c.2648_2667dup (p.Pro890Ter)
c.2636_2655dup (p.Pro886Ter)
2g.144398522A=CA1294884927ZEB2c.*2514T= (n.*2514T=)
c.1888T= (p.Phe630=)
c.2665T= (p.Phe889=)
n.2634T=
c.2329T= (p.Phe777=)
c.2740T= (p.Phe914=)
c.*2382T= (n.*2382T=)
n.2765T=
c.196T= (p.Phe66=)
c.2662T= (p.Phe888=)
c.655+2677T= (n.655+2677T=)
c.1168-594T= (n.1168-594T=)
c.2593T= (p.Phe865=)
c.2656T= (p.Phe886=)
c.2644T= (p.Phe882=)
2g.144398522A>CCA348707517ZEB2c.*2514T>G (n.*2514T>G)
c.1888T>G (p.Phe630Val)
c.2665T>G (p.Phe889Val)
n.2634T>G
c.2329T>G (p.Phe777Val)
c.2740T>G (p.Phe914Val)
c.*2382T>G (n.*2382T>G)
n.2765T>G
c.196T>G (p.Phe66Val)
c.2662T>G (p.Phe888Val)
c.655+2677T>G (n.655+2677T>G)
c.1168-594T>G (n.1168-594T>G)
c.2593T>G (p.Phe865Val)
c.2656T>G (p.Phe886Val)
c.2644T>G (p.Phe882Val)
2g.144398522A>GCA57554856ZEB2c.*2514T>C (n.*2514T>C)
c.1888T>C (p.Phe630Leu)
c.2665T>C (p.Phe889Leu)
n.2634T>C
c.2329T>C (p.Phe777Leu)
c.2740T>C (p.Phe914Leu)
c.*2382T>C (n.*2382T>C)
n.2765T>C
c.196T>C (p.Phe66Leu)
c.2662T>C (p.Phe888Leu)
c.655+2677T>C (n.655+2677T>C)
c.1168-594T>C (n.1168-594T>C)
c.2593T>C (p.Phe865Leu)
c.2656T>C (p.Phe886Leu)
c.2644T>C (p.Phe882Leu)
ClinVar dbSNP gnomAD v4
2g.144398522A>TCA348707520ZEB2c.*2514T>A (n.*2514T>A)
c.1888T>A (p.Phe630Ile)
c.2665T>A (p.Phe889Ile)
n.2634T>A
c.2329T>A (p.Phe777Ile)
c.2740T>A (p.Phe914Ile)
c.*2382T>A (n.*2382T>A)
n.2765T>A
c.196T>A (p.Phe66Ile)
c.2662T>A (p.Phe888Ile)
c.655+2677T>A (n.655+2677T>A)
c.1168-594T>A (n.1168-594T>A)
c.2593T>A (p.Phe865Ile)
c.2656T>A (p.Phe886Ile)
c.2644T>A (p.Phe882Ile)
2g.144398523T>ACA429445060ZEB2c.*2513A>T (n.*2513A>T)
c.1887A>T (p.Pro629=)
c.2664A>T (p.Pro888=)
n.2633A>T
c.2328A>T (p.Pro776=)
c.2739A>T (p.Pro913=)
c.*2381A>T (n.*2381A>T)
n.2764A>T
c.195A>T (p.Pro65=)
c.2661A>T (p.Pro887=)
c.655+2676A>T (n.655+2676A>T)
c.1168-595A>T (n.1168-595A>T)
c.2592A>T (p.Pro864=)
c.2655A>T (p.Pro885=)
c.2643A>T (p.Pro881=)
2g.144398523T>CCA429445063ZEB2c.*2513A>G (n.*2513A>G)
c.1887A>G (p.Pro629=)
c.2664A>G (p.Pro888=)
n.2633A>G
c.2328A>G (p.Pro776=)
c.2739A>G (p.Pro913=)
c.*2381A>G (n.*2381A>G)
n.2764A>G
c.195A>G (p.Pro65=)
c.2661A>G (p.Pro887=)
c.655+2676A>G (n.655+2676A>G)
c.1168-595A>G (n.1168-595A>G)
c.2592A>G (p.Pro864=)
c.2655A>G (p.Pro885=)
c.2643A>G (p.Pro881=)
gnomAD v4
2g.144398523T>GCA429445062ZEB2c.*2513A>C (n.*2513A>C)
c.1887A>C (p.Pro629=)
c.2664A>C (p.Pro888=)
n.2633A>C
c.2328A>C (p.Pro776=)
c.2739A>C (p.Pro913=)
c.*2381A>C (n.*2381A>C)
n.2764A>C
c.195A>C (p.Pro65=)
c.2661A>C (p.Pro887=)
c.655+2676A>C (n.655+2676A>C)
c.1168-595A>C (n.1168-595A>C)
c.2592A>C (p.Pro864=)
c.2655A>C (p.Pro885=)
c.2643A>C (p.Pro881=)
2g.144398524G>ACA348707524ZEB2c.*2512C>T (n.*2512C>T)
c.1886C>T (p.Pro629Leu)
c.2663C>T (p.Pro888Leu)
n.2632C>T
c.2327C>T (p.Pro776Leu)
c.2738C>T (p.Pro913Leu)
c.*2380C>T (n.*2380C>T)
n.2763C>T
c.194C>T (p.Pro65Leu)
c.2660C>T (p.Pro887Leu)
c.655+2675C>T (n.655+2675C>T)
c.1168-596C>T (n.1168-596C>T)
c.2591C>T (p.Pro864Leu)
c.2654C>T (p.Pro885Leu)
c.2642C>T (p.Pro881Leu)
2g.144398524G>CCA348707527ZEB2c.*2512C>G (n.*2512C>G)
c.1886C>G (p.Pro629Arg)
c.2663C>G (p.Pro888Arg)
n.2632C>G
c.2327C>G (p.Pro776Arg)
c.2738C>G (p.Pro913Arg)
c.*2380C>G (n.*2380C>G)
n.2763C>G
c.194C>G (p.Pro65Arg)
c.2660C>G (p.Pro887Arg)
c.655+2675C>G (n.655+2675C>G)
c.1168-596C>G (n.1168-596C>G)
c.2591C>G (p.Pro864Arg)
c.2654C>G (p.Pro885Arg)
c.2642C>G (p.Pro881Arg)
2g.144398524G>TCA348707522ZEB2c.*2512C>A (n.*2512C>A)
c.1886C>A (p.Pro629Gln)
c.2663C>A (p.Pro888Gln)
n.2632C>A
c.2327C>A (p.Pro776Gln)
c.2738C>A (p.Pro913Gln)
c.*2380C>A (n.*2380C>A)
n.2763C>A
c.194C>A (p.Pro65Gln)
c.2660C>A (p.Pro887Gln)
c.655+2675C>A (n.655+2675C>A)
c.1168-596C>A (n.1168-596C>A)
c.2591C>A (p.Pro864Gln)
c.2654C>A (p.Pro885Gln)
c.2642C>A (p.Pro881Gln)
2g.144398526delCA2586970081ZEB2c.*2512del (n.*2512del)
c.1886del (p.Pro629HisfsTer?)
c.2663del (p.Pro888HisfsTer?)
n.2632del
c.2327del (p.Pro776HisfsTer?)
c.2738del (p.Pro913HisfsTer?)
c.*2380del (n.*2380del)
n.2763del
c.194del (p.Pro65HisfsTer?)
c.2660del (p.Pro887HisfsTer?)
c.655+2675del (n.655+2675del)
c.1168-596del (n.1168-596del)
c.2591del (p.Pro864HisfsTer?)
c.2654del (p.Pro885HisfsTer?)
c.2642del (p.Pro881HisfsTer?)
2g.144398525G>ACA348707530ZEB2c.*2511C>T (n.*2511C>T)
c.1885C>T (p.Pro629Ser)
c.2662C>T (p.Pro888Ser)
n.2631C>T
c.2326C>T (p.Pro776Ser)
c.2737C>T (p.Pro913Ser)
c.*2379C>T (n.*2379C>T)
n.2762C>T
c.193C>T (p.Pro65Ser)
c.2659C>T (p.Pro887Ser)
c.655+2674C>T (n.655+2674C>T)
c.1168-597C>T (n.1168-597C>T)
c.2590C>T (p.Pro864Ser)
c.2653C>T (p.Pro885Ser)
c.2641C>T (p.Pro881Ser)
gnomAD v4
2g.144398525G>CCA348707534ZEB2c.*2511C>G (n.*2511C>G)
c.1885C>G (p.Pro629Ala)
c.2662C>G (p.Pro888Ala)
n.2631C>G
c.2326C>G (p.Pro776Ala)
c.2737C>G (p.Pro913Ala)
c.*2379C>G (n.*2379C>G)
n.2762C>G
c.193C>G (p.Pro65Ala)
c.2659C>G (p.Pro887Ala)
c.655+2674C>G (n.655+2674C>G)
c.1168-597C>G (n.1168-597C>G)
c.2590C>G (p.Pro864Ala)
c.2653C>G (p.Pro885Ala)
c.2641C>G (p.Pro881Ala)
2g.144398525G>TCA348707531ZEB2c.*2511C>A (n.*2511C>A)
c.1885C>A (p.Pro629Thr)
c.2662C>A (p.Pro888Thr)
n.2631C>A
c.2326C>A (p.Pro776Thr)
c.2737C>A (p.Pro913Thr)
c.*2379C>A (n.*2379C>A)
n.2762C>A
c.193C>A (p.Pro65Thr)
c.2659C>A (p.Pro887Thr)
c.655+2674C>A (n.655+2674C>A)
c.1168-597C>A (n.1168-597C>A)
c.2590C>A (p.Pro864Thr)
c.2653C>A (p.Pro885Thr)
c.2641C>A (p.Pro881Thr)
2g.144398526G>ACA429445068ZEB2c.*2510C>T (n.*2510C>T)
c.1884C>T (p.Asn628=)
c.2661C>T (p.Asn887=)
n.2630C>T
c.2325C>T (p.Asn775=)
c.2736C>T (p.Asn912=)
c.*2378C>T (n.*2378C>T)
n.2761C>T
c.192C>T (p.Asn64=)
c.2658C>T (p.Asn886=)
c.655+2673C>T (n.655+2673C>T)
c.1168-598C>T (n.1168-598C>T)
c.2589C>T (p.Asn863=)
c.2652C>T (p.Asn884=)
c.2640C>T (p.Asn880=)
gnomAD v4
2g.144398526G>CCA348707538ZEB2c.*2510C>G (n.*2510C>G)
c.1884C>G (p.Asn628Lys)
c.2661C>G (p.Asn887Lys)
n.2630C>G
c.2325C>G (p.Asn775Lys)
c.2736C>G (p.Asn912Lys)
c.*2378C>G (n.*2378C>G)
n.2761C>G
c.192C>G (p.Asn64Lys)
c.2658C>G (p.Asn886Lys)
c.655+2673C>G (n.655+2673C>G)
c.1168-598C>G (n.1168-598C>G)
c.2589C>G (p.Asn863Lys)
c.2652C>G (p.Asn884Lys)
c.2640C>G (p.Asn880Lys)
2g.144398526G>TCA348707539ZEB2c.*2510C>A (n.*2510C>A)
c.1884C>A (p.Asn628Lys)
c.2661C>A (p.Asn887Lys)
n.2630C>A
c.2325C>A (p.Asn775Lys)
c.2736C>A (p.Asn912Lys)
c.*2378C>A (n.*2378C>A)
n.2761C>A
c.192C>A (p.Asn64Lys)
c.2658C>A (p.Asn886Lys)
c.655+2673C>A (n.655+2673C>A)
c.1168-598C>A (n.1168-598C>A)
c.2589C>A (p.Asn863Lys)
c.2652C>A (p.Asn884Lys)
c.2640C>A (p.Asn880Lys)
2g.144398527T>ACA348707542ZEB2c.*2509A>T (n.*2509A>T)
c.1883A>T (p.Asn628Ile)
c.2660A>T (p.Asn887Ile)
n.2629A>T
c.2324A>T (p.Asn775Ile)
c.2735A>T (p.Asn912Ile)
c.*2377A>T (n.*2377A>T)
n.2760A>T
c.191A>T (p.Asn64Ile)
c.2657A>T (p.Asn886Ile)
c.655+2672A>T (n.655+2672A>T)
c.1168-599A>T (n.1168-599A>T)
c.2588A>T (p.Asn863Ile)
c.2651A>T (p.Asn884Ile)
c.2639A>T (p.Asn880Ile)
2g.144398527T>CCA348707545ZEB2c.*2509A>G (n.*2509A>G)
c.1883A>G (p.Asn628Ser)
c.2660A>G (p.Asn887Ser)
n.2629A>G
c.2324A>G (p.Asn775Ser)
c.2735A>G (p.Asn912Ser)
c.*2377A>G (n.*2377A>G)
n.2760A>G
c.191A>G (p.Asn64Ser)
c.2657A>G (p.Asn886Ser)
c.655+2672A>G (n.655+2672A>G)
c.1168-599A>G (n.1168-599A>G)
c.2588A>G (p.Asn863Ser)
c.2651A>G (p.Asn884Ser)
c.2639A>G (p.Asn880Ser)
2g.144398527T>GCA348707547ZEB2c.*2509A>C (n.*2509A>C)
c.1883A>C (p.Asn628Thr)
c.2660A>C (p.Asn887Thr)
n.2629A>C
c.2324A>C (p.Asn775Thr)
c.2735A>C (p.Asn912Thr)
c.*2377A>C (n.*2377A>C)
n.2760A>C
c.191A>C (p.Asn64Thr)
c.2657A>C (p.Asn886Thr)
c.655+2672A>C (n.655+2672A>C)
c.1168-599A>C (n.1168-599A>C)
c.2588A>C (p.Asn863Thr)
c.2651A>C (p.Asn884Thr)
c.2639A>C (p.Asn880Thr)
2g.144398528T>ACA348707554ZEB2c.*2508A>T (n.*2508A>T)
c.1882A>T (p.Asn628Tyr)
c.2659A>T (p.Asn887Tyr)
n.2628A>T
c.2323A>T (p.Asn775Tyr)
c.2734A>T (p.Asn912Tyr)
c.*2376A>T (n.*2376A>T)
n.2759A>T
c.190A>T (p.Asn64Tyr)
c.2656A>T (p.Asn886Tyr)
c.655+2671A>T (n.655+2671A>T)
c.1168-600A>T (n.1168-600A>T)
c.2587A>T (p.Asn863Tyr)
c.2650A>T (p.Asn884Tyr)
c.2638A>T (p.Asn880Tyr)
2g.144398528T>CCA348707552ZEB2c.*2508A>G (n.*2508A>G)
c.1882A>G (p.Asn628Asp)
c.2659A>G (p.Asn887Asp)
n.2628A>G
c.2323A>G (p.Asn775Asp)
c.2734A>G (p.Asn912Asp)
c.*2376A>G (n.*2376A>G)
n.2759A>G
c.190A>G (p.Asn64Asp)
c.2656A>G (p.Asn886Asp)
c.655+2671A>G (n.655+2671A>G)
c.1168-600A>G (n.1168-600A>G)
c.2587A>G (p.Asn863Asp)
c.2650A>G (p.Asn884Asp)
c.2638A>G (p.Asn880Asp)
2g.144398528T>GCA348707550ZEB2c.*2508A>C (n.*2508A>C)
c.1882A>C (p.Asn628His)
c.2659A>C (p.Asn887His)
n.2628A>C
c.2323A>C (p.Asn775His)
c.2734A>C (p.Asn912His)
c.*2376A>C (n.*2376A>C)
n.2759A>C
c.190A>C (p.Asn64His)
c.2656A>C (p.Asn886His)
c.655+2671A>C (n.655+2671A>C)
c.1168-600A>C (n.1168-600A>C)
c.2587A>C (p.Asn863His)
c.2650A>C (p.Asn884His)
c.2638A>C (p.Asn880His)
2g.144398529C>ACA348707557ZEB2c.*2507G>T (n.*2507G>T)
c.1881G>T (p.Met627Ile)
c.2658G>T (p.Met886Ile)
n.2627G>T
c.2322G>T (p.Met774Ile)
c.2733G>T (p.Met911Ile)
c.*2375G>T (n.*2375G>T)
n.2758G>T
c.189G>T (p.Met63Ile)
c.2655G>T (p.Met885Ile)
c.655+2670G>T (n.655+2670G>T)
c.1168-601G>T (n.1168-601G>T)
c.2586G>T (p.Met862Ile)
c.2649G>T (p.Met883Ile)
c.2637G>T (p.Met879Ile)
gnomAD v4
2g.144398529C>GCA348707559ZEB2c.*2507G>C (n.*2507G>C)
c.1881G>C (p.Met627Ile)
c.2658G>C (p.Met886Ile)
n.2627G>C
c.2322G>C (p.Met774Ile)
c.2733G>C (p.Met911Ile)
c.*2375G>C (n.*2375G>C)
n.2758G>C
c.189G>C (p.Met63Ile)
c.2655G>C (p.Met885Ile)
c.655+2670G>C (n.655+2670G>C)
c.1168-601G>C (n.1168-601G>C)
c.2586G>C (p.Met862Ile)
c.2649G>C (p.Met883Ile)
c.2637G>C (p.Met879Ile)
2g.144398529C>TCA348707561ZEB2c.*2507G>A (n.*2507G>A)
c.1881G>A (p.Met627Ile)
c.2658G>A (p.Met886Ile)
n.2627G>A
c.2322G>A (p.Met774Ile)
c.2733G>A (p.Met911Ile)
c.*2375G>A (n.*2375G>A)
n.2758G>A
c.189G>A (p.Met63Ile)
c.2655G>A (p.Met885Ile)
c.655+2670G>A (n.655+2670G>A)
c.1168-601G>A (n.1168-601G>A)
c.2586G>A (p.Met862Ile)
c.2649G>A (p.Met883Ile)
c.2637G>A (p.Met879Ile)
gnomAD v4
2g.144398530A=CA1294884928ZEB2c.*2506T= (n.*2506T=)
c.1880T= (p.Met627=)
c.2657T= (p.Met886=)
n.2626T=
c.2321T= (p.Met774=)
c.2732T= (p.Met911=)
c.*2374T= (n.*2374T=)
n.2757T=
c.188T= (p.Met63=)
c.2654T= (p.Met885=)
c.655+2669T= (n.655+2669T=)
c.1168-602T= (n.1168-602T=)
c.2585T= (p.Met862=)
c.2648T= (p.Met883=)
c.2636T= (p.Met879=)
2g.144398530A>CCA348707563ZEB2c.*2506T>G (n.*2506T>G)
c.1880T>G (p.Met627Arg)
c.2657T>G (p.Met886Arg)
n.2626T>G
c.2321T>G (p.Met774Arg)
c.2732T>G (p.Met911Arg)
c.*2374T>G (n.*2374T>G)
n.2757T>G
c.188T>G (p.Met63Arg)
c.2654T>G (p.Met885Arg)
c.655+2669T>G (n.655+2669T>G)
c.1168-602T>G (n.1168-602T>G)
c.2585T>G (p.Met862Arg)
c.2648T>G (p.Met883Arg)
c.2636T>G (p.Met879Arg)
2g.144398530A>GCA57554861ZEB2c.*2506T>C (n.*2506T>C)
c.1880T>C (p.Met627Thr)
c.2657T>C (p.Met886Thr)
n.2626T>C
c.2321T>C (p.Met774Thr)
c.2732T>C (p.Met911Thr)
c.*2374T>C (n.*2374T>C)
n.2757T>C
c.188T>C (p.Met63Thr)
c.2654T>C (p.Met885Thr)
c.655+2669T>C (n.655+2669T>C)
c.1168-602T>C (n.1168-602T>C)
c.2585T>C (p.Met862Thr)
c.2648T>C (p.Met883Thr)
c.2636T>C (p.Met879Thr)
dbSNP gnomAD v4
2g.144398530A>TCA348707567ZEB2c.*2506T>A (n.*2506T>A)
c.1880T>A (p.Met627Lys)
c.2657T>A (p.Met886Lys)
n.2626T>A
c.2321T>A (p.Met774Lys)
c.2732T>A (p.Met911Lys)
c.*2374T>A (n.*2374T>A)
n.2757T>A
c.188T>A (p.Met63Lys)
c.2654T>A (p.Met885Lys)
c.655+2669T>A (n.655+2669T>A)
c.1168-602T>A (n.1168-602T>A)
c.2585T>A (p.Met862Lys)
c.2648T>A (p.Met883Lys)
c.2636T>A (p.Met879Lys)
COSMIC
2g.144398531T>ACA348707575ZEB2c.*2505A>T (n.*2505A>T)
c.1879A>T (p.Met627Leu)
c.2656A>T (p.Met886Leu)
n.2625A>T
c.2320A>T (p.Met774Leu)
c.2731A>T (p.Met911Leu)
c.*2373A>T (n.*2373A>T)
n.2756A>T
c.187A>T (p.Met63Leu)
c.2653A>T (p.Met885Leu)
c.655+2668A>T (n.655+2668A>T)
c.1168-603A>T (n.1168-603A>T)
c.2584A>T (p.Met862Leu)
c.2647A>T (p.Met883Leu)
c.2635A>T (p.Met879Leu)
2g.144398531T>CCA348707571ZEB2c.*2505A>G (n.*2505A>G)
c.1879A>G (p.Met627Val)
c.2656A>G (p.Met886Val)
n.2625A>G
c.2320A>G (p.Met774Val)
c.2731A>G (p.Met911Val)
c.*2373A>G (n.*2373A>G)
n.2756A>G
c.187A>G (p.Met63Val)
c.2653A>G (p.Met885Val)
c.655+2668A>G (n.655+2668A>G)
c.1168-603A>G (n.1168-603A>G)
c.2584A>G (p.Met862Val)
c.2647A>G (p.Met883Val)
c.2635A>G (p.Met879Val)
2g.144398531T>GCA57554865ZEB2c.*2505A>C (n.*2505A>C)
c.1879A>C (p.Met627Leu)
c.2656A>C (p.Met886Leu)
n.2625A>C
c.2320A>C (p.Met774Leu)
c.2731A>C (p.Met911Leu)
c.*2373A>C (n.*2373A>C)
n.2756A>C
c.187A>C (p.Met63Leu)
c.2653A>C (p.Met885Leu)
c.655+2668A>C (n.655+2668A>C)
c.1168-603A>C (n.1168-603A>C)
c.2584A>C (p.Met862Leu)
c.2647A>C (p.Met883Leu)
c.2635A>C (p.Met879Leu)
dbSNP gnomAD v4
2g.144398531T=CA1294884929ZEB2c.*2505A= (n.*2505A=)
c.1879A= (p.Met627=)
c.2656A= (p.Met886=)
n.2625A=
c.2320A= (p.Met774=)
c.2731A= (p.Met911=)
c.*2373A= (n.*2373A=)
n.2756A=
c.187A= (p.Met63=)
c.2653A= (p.Met885=)
c.655+2668A= (n.655+2668A=)
c.1168-603A= (n.1168-603A=)
c.2584A= (p.Met862=)
c.2647A= (p.Met883=)
c.2635A= (p.Met879=)
2g.144398532G>ACA429445098ZEB2c.*2504C>T (n.*2504C>T)
c.1878C>T (p.Ser626=)
c.2655C>T (p.Ser885=)
n.2624C>T
c.2319C>T (p.Ser773=)
c.2730C>T (p.Ser910=)
c.*2372C>T (n.*2372C>T)
n.2755C>T
c.186C>T (p.Ser62=)
c.2652C>T (p.Ser884=)
c.655+2667C>T (n.655+2667C>T)
c.1168-604C>T (n.1168-604C>T)
c.2583C>T (p.Ser861=)
c.2646C>T (p.Ser882=)
c.2634C>T (p.Ser878=)
ClinVar gnomAD v4
2g.144398532G>CCA1898222ZEB2c.*2504C>G (n.*2504C>G)
c.1878C>G (p.Ser626Arg)
c.2655C>G (p.Ser885Arg)
n.2624C>G
c.2319C>G (p.Ser773Arg)
c.2730C>G (p.Ser910Arg)
c.*2372C>G (n.*2372C>G)
n.2755C>G
c.186C>G (p.Ser62Arg)
c.2652C>G (p.Ser884Arg)
c.655+2667C>G (n.655+2667C>G)
c.1168-604C>G (n.1168-604C>G)
c.2583C>G (p.Ser861Arg)
c.2646C>G (p.Ser882Arg)
c.2634C>G (p.Ser878Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398532G=CA1294884930ZEB2c.*2504C= (n.*2504C=)
c.1878C= (p.Ser626=)
c.2655C= (p.Ser885=)
n.2624C=
c.2319C= (p.Ser773=)
c.2730C= (p.Ser910=)
c.*2372C= (n.*2372C=)
n.2755C=
c.186C= (p.Ser62=)
c.2652C= (p.Ser884=)
c.655+2667C= (n.655+2667C=)
c.1168-604C= (n.1168-604C=)
c.2583C= (p.Ser861=)
c.2646C= (p.Ser882=)
c.2634C= (p.Ser878=)
2g.144398532G>TCA348707578ZEB2c.*2504C>A (n.*2504C>A)
c.1878C>A (p.Ser626Arg)
c.2655C>A (p.Ser885Arg)
n.2624C>A
c.2319C>A (p.Ser773Arg)
c.2730C>A (p.Ser910Arg)
c.*2372C>A (n.*2372C>A)
n.2755C>A
c.186C>A (p.Ser62Arg)
c.2652C>A (p.Ser884Arg)
c.655+2667C>A (n.655+2667C>A)
c.1168-604C>A (n.1168-604C>A)
c.2583C>A (p.Ser861Arg)
c.2646C>A (p.Ser882Arg)
c.2634C>A (p.Ser878Arg)
COSMIC
2g.144398533C>ACA348707580ZEB2c.*2503G>T (n.*2503G>T)
c.1877G>T (p.Ser626Ile)
c.2654G>T (p.Ser885Ile)
n.2623G>T
c.2318G>T (p.Ser773Ile)
c.2729G>T (p.Ser910Ile)
c.*2371G>T (n.*2371G>T)
n.2754G>T
c.185G>T (p.Ser62Ile)
c.2651G>T (p.Ser884Ile)
c.655+2666G>T (n.655+2666G>T)
c.1168-605G>T (n.1168-605G>T)
c.2582G>T (p.Ser861Ile)
c.2645G>T (p.Ser882Ile)
c.2633G>T (p.Ser878Ile)
ClinVar
2g.144398533C>GCA348707582ZEB2c.*2503G>C (n.*2503G>C)
c.1877G>C (p.Ser626Thr)
c.2654G>C (p.Ser885Thr)
n.2623G>C
c.2318G>C (p.Ser773Thr)
c.2729G>C (p.Ser910Thr)
c.*2371G>C (n.*2371G>C)
n.2754G>C
c.185G>C (p.Ser62Thr)
c.2651G>C (p.Ser884Thr)
c.655+2666G>C (n.655+2666G>C)
c.1168-605G>C (n.1168-605G>C)
c.2582G>C (p.Ser861Thr)
c.2645G>C (p.Ser882Thr)
c.2633G>C (p.Ser878Thr)
2g.144398533C>TCA348707584ZEB2c.*2503G>A (n.*2503G>A)
c.1877G>A (p.Ser626Asn)
c.2654G>A (p.Ser885Asn)
n.2623G>A
c.2318G>A (p.Ser773Asn)
c.2729G>A (p.Ser910Asn)
c.*2371G>A (n.*2371G>A)
n.2754G>A
c.185G>A (p.Ser62Asn)
c.2651G>A (p.Ser884Asn)
c.655+2666G>A (n.655+2666G>A)
c.1168-605G>A (n.1168-605G>A)
c.2582G>A (p.Ser861Asn)
c.2645G>A (p.Ser882Asn)
c.2633G>A (p.Ser878Asn)
2g.144398534T>ACA348707586ZEB2c.*2502A>T (n.*2502A>T)
c.1876A>T (p.Ser626Cys)
c.2653A>T (p.Ser885Cys)
n.2622A>T
c.2317A>T (p.Ser773Cys)
c.2728A>T (p.Ser910Cys)
c.*2370A>T (n.*2370A>T)
n.2753A>T
c.184A>T (p.Ser62Cys)
c.2650A>T (p.Ser884Cys)
c.655+2665A>T (n.655+2665A>T)
c.1168-606A>T (n.1168-606A>T)
c.2581A>T (p.Ser861Cys)
c.2644A>T (p.Ser882Cys)
c.2632A>T (p.Ser878Cys)
2g.144398534T>CCA348707588ZEB2c.*2502A>G (n.*2502A>G)
c.1876A>G (p.Ser626Gly)
c.2653A>G (p.Ser885Gly)
n.2622A>G
c.2317A>G (p.Ser773Gly)
c.2728A>G (p.Ser910Gly)
c.*2370A>G (n.*2370A>G)
n.2753A>G
c.184A>G (p.Ser62Gly)
c.2650A>G (p.Ser884Gly)
c.655+2665A>G (n.655+2665A>G)
c.1168-606A>G (n.1168-606A>G)
c.2581A>G (p.Ser861Gly)
c.2644A>G (p.Ser882Gly)
c.2632A>G (p.Ser878Gly)
dbSNP
2g.144398534T>GCA348707590ZEB2c.*2502A>C (n.*2502A>C)
c.1876A>C (p.Ser626Arg)
c.2653A>C (p.Ser885Arg)
n.2622A>C
c.2317A>C (p.Ser773Arg)
c.2728A>C (p.Ser910Arg)
c.*2370A>C (n.*2370A>C)
n.2753A>C
c.184A>C (p.Ser62Arg)
c.2650A>C (p.Ser884Arg)
c.655+2665A>C (n.655+2665A>C)
c.1168-606A>C (n.1168-606A>C)
c.2581A>C (p.Ser861Arg)
c.2644A>C (p.Ser882Arg)
c.2632A>C (p.Ser878Arg)
2g.144398535G>ACA429445104ZEB2c.*2501C>T (n.*2501C>T)
c.1875C>T (p.Phe625=)
c.2652C>T (p.Phe884=)
n.2621C>T
c.2316C>T (p.Phe772=)
c.2727C>T (p.Phe909=)
c.*2369C>T (n.*2369C>T)
n.2752C>T
c.183C>T (p.Phe61=)
c.2649C>T (p.Phe883=)
c.655+2664C>T (n.655+2664C>T)
c.1168-607C>T (n.1168-607C>T)
c.2580C>T (p.Phe860=)
c.2643C>T (p.Phe881=)
c.2631C>T (p.Phe877=)
2g.144398535G>CCA348707592ZEB2c.*2501C>G (n.*2501C>G)
c.1875C>G (p.Phe625Leu)
c.2652C>G (p.Phe884Leu)
n.2621C>G
c.2316C>G (p.Phe772Leu)
c.2727C>G (p.Phe909Leu)
c.*2369C>G (n.*2369C>G)
n.2752C>G
c.183C>G (p.Phe61Leu)
c.2649C>G (p.Phe883Leu)
c.655+2664C>G (n.655+2664C>G)
c.1168-607C>G (n.1168-607C>G)
c.2580C>G (p.Phe860Leu)
c.2643C>G (p.Phe881Leu)
c.2631C>G (p.Phe877Leu)
dbSNP gnomAD v2 gnomAD v4
2g.144398535G=CA1294884931ZEB2c.*2501C= (n.*2501C=)
c.1875C= (p.Phe625=)
c.2652C= (p.Phe884=)
n.2621C=
c.2316C= (p.Phe772=)
c.2727C= (p.Phe909=)
c.*2369C= (n.*2369C=)
n.2752C=
c.183C= (p.Phe61=)
c.2649C= (p.Phe883=)
c.655+2664C= (n.655+2664C=)
c.1168-607C= (n.1168-607C=)
c.2580C= (p.Phe860=)
c.2643C= (p.Phe881=)
c.2631C= (p.Phe877=)
2g.144398535G>TCA348707594ZEB2c.*2501C>A (n.*2501C>A)
c.1875C>A (p.Phe625Leu)
c.2652C>A (p.Phe884Leu)
n.2621C>A
c.2316C>A (p.Phe772Leu)
c.2727C>A (p.Phe909Leu)
c.*2369C>A (n.*2369C>A)
n.2752C>A
c.183C>A (p.Phe61Leu)
c.2649C>A (p.Phe883Leu)
c.655+2664C>A (n.655+2664C>A)
c.1168-607C>A (n.1168-607C>A)
c.2580C>A (p.Phe860Leu)
c.2643C>A (p.Phe881Leu)
c.2631C>A (p.Phe877Leu)
2g.144398536A>CCA348707596ZEB2c.*2500T>G (n.*2500T>G)
c.1874T>G (p.Phe625Cys)
c.2651T>G (p.Phe884Cys)
n.2620T>G
c.2315T>G (p.Phe772Cys)
c.2726T>G (p.Phe909Cys)
c.*2368T>G (n.*2368T>G)
n.2751T>G
c.182T>G (p.Phe61Cys)
c.2648T>G (p.Phe883Cys)
c.655+2663T>G (n.655+2663T>G)
c.1168-608T>G (n.1168-608T>G)
c.2579T>G (p.Phe860Cys)
c.2642T>G (p.Phe881Cys)
c.2630T>G (p.Phe877Cys)
2g.144398536A>GCA348707597ZEB2c.*2500T>C (n.*2500T>C)
c.1874T>C (p.Phe625Ser)
c.2651T>C (p.Phe884Ser)
n.2620T>C
c.2315T>C (p.Phe772Ser)
c.2726T>C (p.Phe909Ser)
c.*2368T>C (n.*2368T>C)
n.2751T>C
c.182T>C (p.Phe61Ser)
c.2648T>C (p.Phe883Ser)
c.655+2663T>C (n.655+2663T>C)
c.1168-608T>C (n.1168-608T>C)
c.2579T>C (p.Phe860Ser)
c.2642T>C (p.Phe881Ser)
c.2630T>C (p.Phe877Ser)
2g.144398536A>TCA348707600ZEB2c.*2500T>A (n.*2500T>A)
c.1874T>A (p.Phe625Tyr)
c.2651T>A (p.Phe884Tyr)
n.2620T>A
c.2315T>A (p.Phe772Tyr)
c.2726T>A (p.Phe909Tyr)
c.*2368T>A (n.*2368T>A)
n.2751T>A
c.182T>A (p.Phe61Tyr)
c.2648T>A (p.Phe883Tyr)
c.655+2663T>A (n.655+2663T>A)
c.1168-608T>A (n.1168-608T>A)
c.2579T>A (p.Phe860Tyr)
c.2642T>A (p.Phe881Tyr)
c.2630T>A (p.Phe877Tyr)
2g.144398537A>CCA348707606ZEB2c.*2499T>G (n.*2499T>G)
c.1873T>G (p.Phe625Val)
c.2650T>G (p.Phe884Val)
n.2619T>G
c.2314T>G (p.Phe772Val)
c.2725T>G (p.Phe909Val)
c.*2367T>G (n.*2367T>G)
n.2750T>G
c.181T>G (p.Phe61Val)
c.2647T>G (p.Phe883Val)
c.655+2662T>G (n.655+2662T>G)
c.1168-609T>G (n.1168-609T>G)
c.2578T>G (p.Phe860Val)
c.2641T>G (p.Phe881Val)
c.2629T>G (p.Phe877Val)
2g.144398537A>GCA348707602ZEB2c.*2499T>C (n.*2499T>C)
c.1873T>C (p.Phe625Leu)
c.2650T>C (p.Phe884Leu)
n.2619T>C
c.2314T>C (p.Phe772Leu)
c.2725T>C (p.Phe909Leu)
c.*2367T>C (n.*2367T>C)
n.2750T>C
c.181T>C (p.Phe61Leu)
c.2647T>C (p.Phe883Leu)
c.655+2662T>C (n.655+2662T>C)
c.1168-609T>C (n.1168-609T>C)
c.2578T>C (p.Phe860Leu)
c.2641T>C (p.Phe881Leu)
c.2629T>C (p.Phe877Leu)
ClinVar gnomAD v4
2g.144398537A>TCA348707604ZEB2c.*2499T>A (n.*2499T>A)
c.1873T>A (p.Phe625Ile)
c.2650T>A (p.Phe884Ile)
n.2619T>A
c.2314T>A (p.Phe772Ile)
c.2725T>A (p.Phe909Ile)
c.*2367T>A (n.*2367T>A)
n.2750T>A
c.181T>A (p.Phe61Ile)
c.2647T>A (p.Phe883Ile)
c.655+2662T>A (n.655+2662T>A)
c.1168-609T>A (n.1168-609T>A)
c.2578T>A (p.Phe860Ile)
c.2641T>A (p.Phe881Ile)
c.2629T>A (p.Phe877Ile)
2g.144398538C>ACA429445121ZEB2c.*2498G>T (n.*2498G>T)
c.1872G>T (p.Val624=)
c.2649G>T (p.Val883=)
n.2618G>T
c.2313G>T (p.Val771=)
c.2724G>T (p.Val908=)
c.*2366G>T (n.*2366G>T)
n.2749G>T
c.180G>T (p.Val60=)
c.2646G>T (p.Val882=)
c.655+2661G>T (n.655+2661G>T)
c.1168-610G>T (n.1168-610G>T)
c.2577G>T (p.Val859=)
c.2640G>T (p.Val880=)
c.2628G>T (p.Val876=)
ClinVar
2g.144398538C>GCA429445122ZEB2c.*2498G>C (n.*2498G>C)
c.1872G>C (p.Val624=)
c.2649G>C (p.Val883=)
n.2618G>C
c.2313G>C (p.Val771=)
c.2724G>C (p.Val908=)
c.*2366G>C (n.*2366G>C)
n.2749G>C
c.180G>C (p.Val60=)
c.2646G>C (p.Val882=)
c.655+2661G>C (n.655+2661G>C)
c.1168-610G>C (n.1168-610G>C)
c.2577G>C (p.Val859=)
c.2640G>C (p.Val880=)
c.2628G>C (p.Val876=)
2g.144398538C>TCA429445124ZEB2c.*2498G>A (n.*2498G>A)
c.1872G>A (p.Val624=)
c.2649G>A (p.Val883=)
n.2618G>A
c.2313G>A (p.Val771=)
c.2724G>A (p.Val908=)
c.*2366G>A (n.*2366G>A)
n.2749G>A
c.180G>A (p.Val60=)
c.2646G>A (p.Val882=)
c.655+2661G>A (n.655+2661G>A)
c.1168-610G>A (n.1168-610G>A)
c.2577G>A (p.Val859=)
c.2640G>A (p.Val880=)
c.2628G>A (p.Val876=)
gnomAD v4
2g.144398538_144398552delinsTTACA2740095695ZEB2c.*2484_*2498delinsTAA (n.*2484_*2498delinsTAA)
c.1858_1872delinsTAA (p.Ser620Ter)
c.2635_2649delinsTAA (p.Ser879Ter)
n.2604_2618delinsTAA
c.2299_2313delinsTAA (p.Ser767Ter)
c.2710_2724delinsTAA (p.Ser904Ter)
c.*2352_*2366delinsTAA (n.*2352_*2366delinsTAA)
n.2735_2749delinsTAA
c.166_180delinsTAA (p.Ser56Ter)
c.2632_2646delinsTAA (p.Ser878Ter)
c.655+2647_655+2661delinsTAA (n.655+2647_655+2661delinsTAA)
c.1168-624_1168-610delinsTAA (n.1168-624_1168-610delinsTAA)
c.2563_2577delinsTAA (p.Ser855Ter)
c.2626_2640delinsTAA (p.Ser876Ter)
c.2614_2628delinsTAA (p.Ser872Ter)
ClinVar
2g.144398539A>CCA348707608ZEB2c.*2497T>G (n.*2497T>G)
c.1871T>G (p.Val624Gly)
c.2648T>G (p.Val883Gly)
n.2617T>G
c.2312T>G (p.Val771Gly)
c.2723T>G (p.Val908Gly)
c.*2365T>G (n.*2365T>G)
n.2748T>G
c.179T>G (p.Val60Gly)
c.2645T>G (p.Val882Gly)
c.655+2660T>G (n.655+2660T>G)
c.1168-611T>G (n.1168-611T>G)
c.2576T>G (p.Val859Gly)
c.2639T>G (p.Val880Gly)
c.2627T>G (p.Val876Gly)
2g.144398539A>GCA348707610ZEB2c.*2497T>C (n.*2497T>C)
c.1871T>C (p.Val624Ala)
c.2648T>C (p.Val883Ala)
n.2617T>C
c.2312T>C (p.Val771Ala)
c.2723T>C (p.Val908Ala)
c.*2365T>C (n.*2365T>C)
n.2748T>C
c.179T>C (p.Val60Ala)
c.2645T>C (p.Val882Ala)
c.655+2660T>C (n.655+2660T>C)
c.1168-611T>C (n.1168-611T>C)
c.2576T>C (p.Val859Ala)
c.2639T>C (p.Val880Ala)
c.2627T>C (p.Val876Ala)
2g.144398539A>TCA348707611ZEB2c.*2497T>A (n.*2497T>A)
c.1871T>A (p.Val624Glu)
c.2648T>A (p.Val883Glu)
n.2617T>A
c.2312T>A (p.Val771Glu)
c.2723T>A (p.Val908Glu)
c.*2365T>A (n.*2365T>A)
n.2748T>A
c.179T>A (p.Val60Glu)
c.2645T>A (p.Val882Glu)
c.655+2660T>A (n.655+2660T>A)
c.1168-611T>A (n.1168-611T>A)
c.2576T>A (p.Val859Glu)
c.2639T>A (p.Val880Glu)
c.2627T>A (p.Val876Glu)
2g.144398540C>ACA348707614ZEB2c.*2496G>T (n.*2496G>T)
c.1870G>T (p.Val624Leu)
c.2647G>T (p.Val883Leu)
n.2616G>T
c.2311G>T (p.Val771Leu)
c.2722G>T (p.Val908Leu)
c.*2364G>T (n.*2364G>T)
n.2747G>T
c.178G>T (p.Val60Leu)
c.2644G>T (p.Val882Leu)
c.655+2659G>T (n.655+2659G>T)
c.1168-612G>T (n.1168-612G>T)
c.2575G>T (p.Val859Leu)
c.2638G>T (p.Val880Leu)
c.2626G>T (p.Val876Leu)
2g.144398540C=CA1294884932ZEB2c.*2496G= (n.*2496G=)
c.1870G= (p.Val624=)
c.2647G= (p.Val883=)
n.2616G=
c.2311G= (p.Val771=)
c.2722G= (p.Val908=)
c.*2364G= (n.*2364G=)
n.2747G=
c.178G= (p.Val60=)
c.2644G= (p.Val882=)
c.655+2659G= (n.655+2659G=)
c.1168-612G= (n.1168-612G=)
c.2575G= (p.Val859=)
c.2638G= (p.Val880=)
c.2626G= (p.Val876=)
2g.144398540C>GCA348707615ZEB2c.*2496G>C (n.*2496G>C)
c.1870G>C (p.Val624Leu)
c.2647G>C (p.Val883Leu)
n.2616G>C
c.2311G>C (p.Val771Leu)
c.2722G>C (p.Val908Leu)
c.*2364G>C (n.*2364G>C)
n.2747G>C
c.178G>C (p.Val60Leu)
c.2644G>C (p.Val882Leu)
c.655+2659G>C (n.655+2659G>C)
c.1168-612G>C (n.1168-612G>C)
c.2575G>C (p.Val859Leu)
c.2638G>C (p.Val880Leu)
c.2626G>C (p.Val876Leu)
dbSNP
2g.144398540C>TCA1898223ZEB2c.*2496G>A (n.*2496G>A)
c.1870G>A (p.Val624Met)
c.2647G>A (p.Val883Met)
n.2616G>A
c.2311G>A (p.Val771Met)
c.2722G>A (p.Val908Met)
c.*2364G>A (n.*2364G>A)
n.2747G>A
c.178G>A (p.Val60Met)
c.2644G>A (p.Val882Met)
c.655+2659G>A (n.655+2659G>A)
c.1168-612G>A (n.1168-612G>A)
c.2575G>A (p.Val859Met)
c.2638G>A (p.Val880Met)
c.2626G>A (p.Val876Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398541delCA2586970082ZEB2c.*2495del (n.*2495del)
c.1869del (p.Val624CysfsTer4)
c.2646del (p.Val883CysfsTer4)
n.2615del
c.2310del (p.Val771CysfsTer4)
c.2721del (p.Val908CysfsTer4)
c.*2363del (n.*2363del)
n.2746del
c.177del (p.Val60CysfsTer4)
c.2643del (p.Val882CysfsTer4)
c.655+2658del (n.655+2658del)
c.1168-613del (n.1168-613del)
c.2574del (p.Val859CysfsTer4)
c.2637del (p.Val880CysfsTer4)
c.2625del (p.Val876CysfsTer4)
2g.144398541T>ACA429445136ZEB2c.*2495A>T (n.*2495A>T)
c.1869A>T (p.Pro623=)
c.2646A>T (p.Pro882=)
n.2615A>T
c.2310A>T (p.Pro770=)
c.2721A>T (p.Pro907=)
c.*2363A>T (n.*2363A>T)
n.2746A>T
c.177A>T (p.Pro59=)
c.2643A>T (p.Pro881=)
c.655+2658A>T (n.655+2658A>T)
c.1168-613A>T (n.1168-613A>T)
c.2574A>T (p.Pro858=)
c.2637A>T (p.Pro879=)
c.2625A>T (p.Pro875=)
2g.144398541T>CCA1898224ZEB2c.*2495A>G (n.*2495A>G)
c.1869A>G (p.Pro623=)
c.2646A>G (p.Pro882=)
n.2615A>G
c.2310A>G (p.Pro770=)
c.2721A>G (p.Pro907=)
c.*2363A>G (n.*2363A>G)
n.2746A>G
c.177A>G (p.Pro59=)
c.2643A>G (p.Pro881=)
c.655+2658A>G (n.655+2658A>G)
c.1168-613A>G (n.1168-613A>G)
c.2574A>G (p.Pro858=)
c.2637A>G (p.Pro879=)
c.2625A>G (p.Pro875=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398541T>GCA429445138ZEB2c.*2495A>C (n.*2495A>C)
c.1869A>C (p.Pro623=)
c.2646A>C (p.Pro882=)
n.2615A>C
c.2310A>C (p.Pro770=)
c.2721A>C (p.Pro907=)
c.*2363A>C (n.*2363A>C)
n.2746A>C
c.177A>C (p.Pro59=)
c.2643A>C (p.Pro881=)
c.655+2658A>C (n.655+2658A>C)
c.1168-613A>C (n.1168-613A>C)
c.2574A>C (p.Pro858=)
c.2637A>C (p.Pro879=)
c.2625A>C (p.Pro875=)
2g.144398541T=CA1294884933ZEB2c.*2495A= (n.*2495A=)
c.1869A= (p.Pro623=)
c.2646A= (p.Pro882=)
n.2615A=
c.2310A= (p.Pro770=)
c.2721A= (p.Pro907=)
c.*2363A= (n.*2363A=)
n.2746A=
c.177A= (p.Pro59=)
c.2643A= (p.Pro881=)
c.655+2658A= (n.655+2658A=)
c.1168-613A= (n.1168-613A=)
c.2574A= (p.Pro858=)
c.2637A= (p.Pro879=)
c.2625A= (p.Pro875=)
2g.144398542G>ACA348707623ZEB2c.*2494C>T (n.*2494C>T)
c.1868C>T (p.Pro623Leu)
c.2645C>T (p.Pro882Leu)
n.2614C>T
c.2309C>T (p.Pro770Leu)
c.2720C>T (p.Pro907Leu)
c.*2362C>T (n.*2362C>T)
n.2745C>T
c.176C>T (p.Pro59Leu)
c.2642C>T (p.Pro881Leu)
c.655+2657C>T (n.655+2657C>T)
c.1168-614C>T (n.1168-614C>T)
c.2573C>T (p.Pro858Leu)
c.2636C>T (p.Pro879Leu)
c.2624C>T (p.Pro875Leu)
COSMIC
2g.144398542G>CCA348707619ZEB2c.*2494C>G (n.*2494C>G)
c.1868C>G (p.Pro623Arg)
c.2645C>G (p.Pro882Arg)
n.2614C>G
c.2309C>G (p.Pro770Arg)
c.2720C>G (p.Pro907Arg)
c.*2362C>G (n.*2362C>G)
n.2745C>G
c.176C>G (p.Pro59Arg)
c.2642C>G (p.Pro881Arg)
c.655+2657C>G (n.655+2657C>G)
c.1168-614C>G (n.1168-614C>G)
c.2573C>G (p.Pro858Arg)
c.2636C>G (p.Pro879Arg)
c.2624C>G (p.Pro875Arg)
2g.144398542G>TCA348707621ZEB2c.*2494C>A (n.*2494C>A)
c.1868C>A (p.Pro623Gln)
c.2645C>A (p.Pro882Gln)
n.2614C>A
c.2309C>A (p.Pro770Gln)
c.2720C>A (p.Pro907Gln)
c.*2362C>A (n.*2362C>A)
n.2745C>A
c.176C>A (p.Pro59Gln)
c.2642C>A (p.Pro881Gln)
c.655+2657C>A (n.655+2657C>A)
c.1168-614C>A (n.1168-614C>A)
c.2573C>A (p.Pro858Gln)
c.2636C>A (p.Pro879Gln)
c.2624C>A (p.Pro875Gln)
2g.144398544dupCA2739271223ZEB2c.*2494dup (n.*2494dup)
c.1868dup (p.Val624SerfsTer8)
c.2645dup (p.Val883SerfsTer8)
n.2614dup
c.2309dup (p.Val771SerfsTer8)
c.2720dup (p.Val908SerfsTer8)
c.*2362dup (n.*2362dup)
n.2745dup
c.176dup (p.Val60SerfsTer8)
c.2642dup (p.Val882SerfsTer8)
c.655+2657dup (n.655+2657dup)
c.1168-614dup (n.1168-614dup)
c.2573dup (p.Val859SerfsTer8)
c.2636dup (p.Val880SerfsTer8)
c.2624dup (p.Val876SerfsTer8)
ClinVar
2g.144398543G>ACA348707625ZEB2c.*2493C>T (n.*2493C>T)
c.1867C>T (p.Pro623Ser)
c.2644C>T (p.Pro882Ser)
n.2613C>T
c.2308C>T (p.Pro770Ser)
c.2719C>T (p.Pro907Ser)
c.*2361C>T (n.*2361C>T)
n.2744C>T
c.175C>T (p.Pro59Ser)
c.2641C>T (p.Pro881Ser)
c.655+2656C>T (n.655+2656C>T)
c.1168-615C>T (n.1168-615C>T)
c.2572C>T (p.Pro858Ser)
c.2635C>T (p.Pro879Ser)
c.2623C>T (p.Pro875Ser)
ClinVar
2g.144398543G>CCA348707626ZEB2c.*2493C>G (n.*2493C>G)
c.1867C>G (p.Pro623Ala)
c.2644C>G (p.Pro882Ala)
n.2613C>G
c.2308C>G (p.Pro770Ala)
c.2719C>G (p.Pro907Ala)
c.*2361C>G (n.*2361C>G)
n.2744C>G
c.175C>G (p.Pro59Ala)
c.2641C>G (p.Pro881Ala)
c.655+2656C>G (n.655+2656C>G)
c.1168-615C>G (n.1168-615C>G)
c.2572C>G (p.Pro858Ala)
c.2635C>G (p.Pro879Ala)
c.2623C>G (p.Pro875Ala)
2g.144398543G>TCA348707628ZEB2c.*2493C>A (n.*2493C>A)
c.1867C>A (p.Pro623Thr)
c.2644C>A (p.Pro882Thr)
n.2613C>A
c.2308C>A (p.Pro770Thr)
c.2719C>A (p.Pro907Thr)
c.*2361C>A (n.*2361C>A)
n.2744C>A
c.175C>A (p.Pro59Thr)
c.2641C>A (p.Pro881Thr)
c.655+2656C>A (n.655+2656C>A)
c.1168-615C>A (n.1168-615C>A)
c.2572C>A (p.Pro858Thr)
c.2635C>A (p.Pro879Thr)
c.2623C>A (p.Pro875Thr)
2g.144398544G>ACA429445141ZEB2c.*2492C>T (n.*2492C>T)
c.1866C>T (p.Asn622=)
c.2643C>T (p.Asn881=)
n.2612C>T
c.2307C>T (p.Asn769=)
c.2718C>T (p.Asn906=)
c.*2360C>T (n.*2360C>T)
n.2743C>T
c.174C>T (p.Asn58=)
c.2640C>T (p.Asn880=)
c.655+2655C>T (n.655+2655C>T)
c.1168-616C>T (n.1168-616C>T)
c.2571C>T (p.Asn857=)
c.2634C>T (p.Asn878=)
c.2622C>T (p.Asn874=)
dbSNP gnomAD v4
2g.144398544G>CCA348707630ZEB2c.*2492C>G (n.*2492C>G)
c.1866C>G (p.Asn622Lys)
c.2643C>G (p.Asn881Lys)
n.2612C>G
c.2307C>G (p.Asn769Lys)
c.2718C>G (p.Asn906Lys)
c.*2360C>G (n.*2360C>G)
n.2743C>G
c.174C>G (p.Asn58Lys)
c.2640C>G (p.Asn880Lys)
c.655+2655C>G (n.655+2655C>G)
c.1168-616C>G (n.1168-616C>G)
c.2571C>G (p.Asn857Lys)
c.2634C>G (p.Asn878Lys)
c.2622C>G (p.Asn874Lys)
2g.144398544G=CA1294884934ZEB2c.*2492C= (n.*2492C=)
c.1866C= (p.Asn622=)
c.2643C= (p.Asn881=)
n.2612C=
c.2307C= (p.Asn769=)
c.2718C= (p.Asn906=)
c.*2360C= (n.*2360C=)
n.2743C=
c.174C= (p.Asn58=)
c.2640C= (p.Asn880=)
c.655+2655C= (n.655+2655C=)
c.1168-616C= (n.1168-616C=)
c.2571C= (p.Asn857=)
c.2634C= (p.Asn878=)
c.2622C= (p.Asn874=)
2g.144398544G>TCA348707632ZEB2c.*2492C>A (n.*2492C>A)
c.1866C>A (p.Asn622Lys)
c.2643C>A (p.Asn881Lys)
n.2612C>A
c.2307C>A (p.Asn769Lys)
c.2718C>A (p.Asn906Lys)
c.*2360C>A (n.*2360C>A)
n.2743C>A
c.174C>A (p.Asn58Lys)
c.2640C>A (p.Asn880Lys)
c.655+2655C>A (n.655+2655C>A)
c.1168-616C>A (n.1168-616C>A)
c.2571C>A (p.Asn857Lys)
c.2634C>A (p.Asn878Lys)
c.2622C>A (p.Asn874Lys)
2g.144398545T>ACA348707634ZEB2c.*2491A>T (n.*2491A>T)
c.1865A>T (p.Asn622Ile)
c.2642A>T (p.Asn881Ile)
n.2611A>T
c.2306A>T (p.Asn769Ile)
c.2717A>T (p.Asn906Ile)
c.*2359A>T (n.*2359A>T)
n.2742A>T
c.173A>T (p.Asn58Ile)
c.2639A>T (p.Asn880Ile)
c.655+2654A>T (n.655+2654A>T)
c.1168-617A>T (n.1168-617A>T)
c.2570A>T (p.Asn857Ile)
c.2633A>T (p.Asn878Ile)
c.2621A>T (p.Asn874Ile)
2g.144398545T>CCA348707637ZEB2c.*2491A>G (n.*2491A>G)
c.1865A>G (p.Asn622Ser)
c.2642A>G (p.Asn881Ser)
n.2611A>G
c.2306A>G (p.Asn769Ser)
c.2717A>G (p.Asn906Ser)
c.*2359A>G (n.*2359A>G)
n.2742A>G
c.173A>G (p.Asn58Ser)
c.2639A>G (p.Asn880Ser)
c.655+2654A>G (n.655+2654A>G)
c.1168-617A>G (n.1168-617A>G)
c.2570A>G (p.Asn857Ser)
c.2633A>G (p.Asn878Ser)
c.2621A>G (p.Asn874Ser)
2g.144398545T>GCA348707635ZEB2c.*2491A>C (n.*2491A>C)
c.1865A>C (p.Asn622Thr)
c.2642A>C (p.Asn881Thr)
n.2611A>C
c.2306A>C (p.Asn769Thr)
c.2717A>C (p.Asn906Thr)
c.*2359A>C (n.*2359A>C)
n.2742A>C
c.173A>C (p.Asn58Thr)
c.2639A>C (p.Asn880Thr)
c.655+2654A>C (n.655+2654A>C)
c.1168-617A>C (n.1168-617A>C)
c.2570A>C (p.Asn857Thr)
c.2633A>C (p.Asn878Thr)
c.2621A>C (p.Asn874Thr)
2g.144398546T>ACA348707640ZEB2c.*2490A>T (n.*2490A>T)
c.1864A>T (p.Asn622Tyr)
c.2641A>T (p.Asn881Tyr)
n.2610A>T
c.2305A>T (p.Asn769Tyr)
c.2716A>T (p.Asn906Tyr)
c.*2358A>T (n.*2358A>T)
n.2741A>T
c.172A>T (p.Asn58Tyr)
c.2638A>T (p.Asn880Tyr)
c.655+2653A>T (n.655+2653A>T)
c.1168-618A>T (n.1168-618A>T)
c.2569A>T (p.Asn857Tyr)
c.2632A>T (p.Asn878Tyr)
c.2620A>T (p.Asn874Tyr)
2g.144398546T>CCA348707641ZEB2c.*2490A>G (n.*2490A>G)
c.1864A>G (p.Asn622Asp)
c.2641A>G (p.Asn881Asp)
n.2610A>G
c.2305A>G (p.Asn769Asp)
c.2716A>G (p.Asn906Asp)
c.*2358A>G (n.*2358A>G)
n.2741A>G
c.172A>G (p.Asn58Asp)
c.2638A>G (p.Asn880Asp)
c.655+2653A>G (n.655+2653A>G)
c.1168-618A>G (n.1168-618A>G)
c.2569A>G (p.Asn857Asp)
c.2632A>G (p.Asn878Asp)
c.2620A>G (p.Asn874Asp)
2g.144398546T>GCA247713ZEB2c.*2490A>C (n.*2490A>C)
c.1864A>C (p.Asn622His)
c.2641A>C (p.Asn881His)
n.2610A>C
c.2305A>C (p.Asn769His)
c.2716A>C (p.Asn906His)
c.*2358A>C (n.*2358A>C)
n.2741A>C
c.172A>C (p.Asn58His)
c.2638A>C (p.Asn880His)
c.655+2653A>C (n.655+2653A>C)
c.1168-618A>C (n.1168-618A>C)
c.2569A>C (p.Asn857His)
c.2632A>C (p.Asn878His)
c.2620A>C (p.Asn874His)
ClinVar dbSNP gnomAD v4
2g.144398546T=CA1294884935ZEB2c.*2490A= (n.*2490A=)
c.1864A= (p.Asn622=)
c.2641A= (p.Asn881=)
n.2610A=
c.2305A= (p.Asn769=)
c.2716A= (p.Asn906=)
c.*2358A= (n.*2358A=)
n.2741A=
c.172A= (p.Asn58=)
c.2638A= (p.Asn880=)
c.655+2653A= (n.655+2653A=)
c.1168-618A= (n.1168-618A=)
c.2569A= (p.Asn857=)
c.2632A= (p.Asn878=)
c.2620A= (p.Asn874=)
2g.144398547A=CA1294884936ZEB2c.*2489T= (n.*2489T=)
c.1863T= (p.Thr621=)
c.2640T= (p.Thr880=)
n.2609T=
c.2304T= (p.Thr768=)
c.2715T= (p.Thr905=)
c.*2357T= (n.*2357T=)
n.2740T=
c.171T= (p.Thr57=)
c.2637T= (p.Thr879=)
c.655+2652T= (n.655+2652T=)
c.1168-619T= (n.1168-619T=)
c.2568T= (p.Thr856=)
c.2631T= (p.Thr877=)
c.2619T= (p.Thr873=)
2g.144398547A>CCA429445153ZEB2c.*2489T>G (n.*2489T>G)
c.1863T>G (p.Thr621=)
c.2640T>G (p.Thr880=)
n.2609T>G
c.2304T>G (p.Thr768=)
c.2715T>G (p.Thr905=)
c.*2357T>G (n.*2357T>G)
n.2740T>G
c.171T>G (p.Thr57=)
c.2637T>G (p.Thr879=)
c.655+2652T>G (n.655+2652T>G)
c.1168-619T>G (n.1168-619T>G)
c.2568T>G (p.Thr856=)
c.2631T>G (p.Thr877=)
c.2619T>G (p.Thr873=)
2g.144398547A>GCA429445154ZEB2c.*2489T>C (n.*2489T>C)
c.1863T>C (p.Thr621=)
c.2640T>C (p.Thr880=)
n.2609T>C
c.2304T>C (p.Thr768=)
c.2715T>C (p.Thr905=)
c.*2357T>C (n.*2357T>C)
n.2740T>C
c.171T>C (p.Thr57=)
c.2637T>C (p.Thr879=)
c.655+2652T>C (n.655+2652T>C)
c.1168-619T>C (n.1168-619T>C)
c.2568T>C (p.Thr856=)
c.2631T>C (p.Thr877=)
c.2619T>C (p.Thr873=)
2g.144398547A>TCA429445156ZEB2c.*2489T>A (n.*2489T>A)
c.1863T>A (p.Thr621=)
c.2640T>A (p.Thr880=)
n.2609T>A
c.2304T>A (p.Thr768=)
c.2715T>A (p.Thr905=)
c.*2357T>A (n.*2357T>A)
n.2740T>A
c.171T>A (p.Thr57=)
c.2637T>A (p.Thr879=)
c.655+2652T>A (n.655+2652T>A)
c.1168-619T>A (n.1168-619T>A)
c.2568T>A (p.Thr856=)
c.2631T>A (p.Thr877=)
c.2619T>A (p.Thr873=)
dbSNP gnomAD v4
2g.144398548G>ACA348707645ZEB2c.*2488C>T (n.*2488C>T)
c.1862C>T (p.Thr621Ile)
c.2639C>T (p.Thr880Ile)
n.2608C>T
c.2303C>T (p.Thr768Ile)
c.2714C>T (p.Thr905Ile)
c.*2356C>T (n.*2356C>T)
n.2739C>T
c.170C>T (p.Thr57Ile)
c.2636C>T (p.Thr879Ile)
c.655+2651C>T (n.655+2651C>T)
c.1168-620C>T (n.1168-620C>T)
c.2567C>T (p.Thr856Ile)
c.2630C>T (p.Thr877Ile)
c.2618C>T (p.Thr873Ile)
2g.144398548G>CCA348707647ZEB2c.*2488C>G (n.*2488C>G)
c.1862C>G (p.Thr621Ser)
c.2639C>G (p.Thr880Ser)
n.2608C>G
c.2303C>G (p.Thr768Ser)
c.2714C>G (p.Thr905Ser)
c.*2356C>G (n.*2356C>G)
n.2739C>G
c.170C>G (p.Thr57Ser)
c.2636C>G (p.Thr879Ser)
c.655+2651C>G (n.655+2651C>G)
c.1168-620C>G (n.1168-620C>G)
c.2567C>G (p.Thr856Ser)
c.2630C>G (p.Thr877Ser)
c.2618C>G (p.Thr873Ser)
gnomAD v4
2g.144398548G>TCA348707648ZEB2c.*2488C>A (n.*2488C>A)
c.1862C>A (p.Thr621Asn)
c.2639C>A (p.Thr880Asn)
n.2608C>A
c.2303C>A (p.Thr768Asn)
c.2714C>A (p.Thr905Asn)
c.*2356C>A (n.*2356C>A)
n.2739C>A
c.170C>A (p.Thr57Asn)
c.2636C>A (p.Thr879Asn)
c.655+2651C>A (n.655+2651C>A)
c.1168-620C>A (n.1168-620C>A)
c.2567C>A (p.Thr856Asn)
c.2630C>A (p.Thr877Asn)
c.2618C>A (p.Thr873Asn)
2g.144398549T>ACA348707651ZEB2c.*2487A>T (n.*2487A>T)
c.1861A>T (p.Thr621Ser)
c.2638A>T (p.Thr880Ser)
n.2607A>T
c.2302A>T (p.Thr768Ser)
c.2713A>T (p.Thr905Ser)
c.*2355A>T (n.*2355A>T)
n.2738A>T
c.169A>T (p.Thr57Ser)
c.2635A>T (p.Thr879Ser)
c.655+2650A>T (n.655+2650A>T)
c.1168-621A>T (n.1168-621A>T)
c.2566A>T (p.Thr856Ser)
c.2629A>T (p.Thr877Ser)
c.2617A>T (p.Thr873Ser)
gnomAD v4
2g.144398549T>CCA348707652ZEB2c.*2487A>G (n.*2487A>G)
c.1861A>G (p.Thr621Ala)
c.2638A>G (p.Thr880Ala)
n.2607A>G
c.2302A>G (p.Thr768Ala)
c.2713A>G (p.Thr905Ala)
c.*2355A>G (n.*2355A>G)
n.2738A>G
c.169A>G (p.Thr57Ala)
c.2635A>G (p.Thr879Ala)
c.655+2650A>G (n.655+2650A>G)
c.1168-621A>G (n.1168-621A>G)
c.2566A>G (p.Thr856Ala)
c.2629A>G (p.Thr877Ala)
c.2617A>G (p.Thr873Ala)
2g.144398549T>GCA348707653ZEB2c.*2487A>C (n.*2487A>C)
c.1861A>C (p.Thr621Pro)
c.2638A>C (p.Thr880Pro)
n.2607A>C
c.2302A>C (p.Thr768Pro)
c.2713A>C (p.Thr905Pro)
c.*2355A>C (n.*2355A>C)
n.2738A>C
c.169A>C (p.Thr57Pro)
c.2635A>C (p.Thr879Pro)
c.655+2650A>C (n.655+2650A>C)
c.1168-621A>C (n.1168-621A>C)
c.2566A>C (p.Thr856Pro)
c.2629A>C (p.Thr877Pro)
c.2617A>C (p.Thr873Pro)
2g.144398550G>ACA429445163ZEB2c.*2486C>T (n.*2486C>T)
c.1860C>T (p.Ser620=)
c.2637C>T (p.Ser879=)
n.2606C>T
c.2301C>T (p.Ser767=)
c.2712C>T (p.Ser904=)
c.*2354C>T (n.*2354C>T)
n.2737C>T
c.168C>T (p.Ser56=)
c.2634C>T (p.Ser878=)
c.655+2649C>T (n.655+2649C>T)
c.1168-622C>T (n.1168-622C>T)
c.2565C>T (p.Ser855=)
c.2628C>T (p.Ser876=)
c.2616C>T (p.Ser872=)
dbSNP gnomAD v2 gnomAD v4
2g.144398550G>CCA348707655ZEB2c.*2486C>G (n.*2486C>G)
c.1860C>G (p.Ser620Arg)
c.2637C>G (p.Ser879Arg)
n.2606C>G
c.2301C>G (p.Ser767Arg)
c.2712C>G (p.Ser904Arg)
c.*2354C>G (n.*2354C>G)
n.2737C>G
c.168C>G (p.Ser56Arg)
c.2634C>G (p.Ser878Arg)
c.655+2649C>G (n.655+2649C>G)
c.1168-622C>G (n.1168-622C>G)
c.2565C>G (p.Ser855Arg)
c.2628C>G (p.Ser876Arg)
c.2616C>G (p.Ser872Arg)
2g.144398550G=CA1294884937ZEB2c.*2486C= (n.*2486C=)
c.1860C= (p.Ser620=)
c.2637C= (p.Ser879=)
n.2606C=
c.2301C= (p.Ser767=)
c.2712C= (p.Ser904=)
c.*2354C= (n.*2354C=)
n.2737C=
c.168C= (p.Ser56=)
c.2634C= (p.Ser878=)
c.655+2649C= (n.655+2649C=)
c.1168-622C= (n.1168-622C=)
c.2565C= (p.Ser855=)
c.2628C= (p.Ser876=)
c.2616C= (p.Ser872=)
2g.144398550G>TCA348707657ZEB2c.*2486C>A (n.*2486C>A)
c.1860C>A (p.Ser620Arg)
c.2637C>A (p.Ser879Arg)
n.2606C>A
c.2301C>A (p.Ser767Arg)
c.2712C>A (p.Ser904Arg)
c.*2354C>A (n.*2354C>A)
n.2737C>A
c.168C>A (p.Ser56Arg)
c.2634C>A (p.Ser878Arg)
c.655+2649C>A (n.655+2649C>A)
c.1168-622C>A (n.1168-622C>A)
c.2565C>A (p.Ser855Arg)
c.2628C>A (p.Ser876Arg)
c.2616C>A (p.Ser872Arg)
2g.144398551C>ACA1898225ZEB2c.*2485G>T (n.*2485G>T)
c.1859G>T (p.Ser620Ile)
c.2636G>T (p.Ser879Ile)
n.2605G>T
c.2300G>T (p.Ser767Ile)
c.2711G>T (p.Ser904Ile)
c.*2353G>T (n.*2353G>T)
n.2736G>T
c.167G>T (p.Ser56Ile)
c.2633G>T (p.Ser878Ile)
c.655+2648G>T (n.655+2648G>T)
c.1168-623G>T (n.1168-623G>T)
c.2564G>T (p.Ser855Ile)
c.2627G>T (p.Ser876Ile)
c.2615G>T (p.Ser872Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398551C=CA1294884938ZEB2c.*2485G= (n.*2485G=)
c.1859G= (p.Ser620=)
c.2636G= (p.Ser879=)
n.2605G=
c.2300G= (p.Ser767=)
c.2711G= (p.Ser904=)
c.*2353G= (n.*2353G=)
n.2736G=
c.167G= (p.Ser56=)
c.2633G= (p.Ser878=)
c.655+2648G= (n.655+2648G=)
c.1168-623G= (n.1168-623G=)
c.2564G= (p.Ser855=)
c.2627G= (p.Ser876=)
c.2615G= (p.Ser872=)
2g.144398551C>GCA348707663ZEB2c.*2485G>C (n.*2485G>C)
c.1859G>C (p.Ser620Thr)
c.2636G>C (p.Ser879Thr)
n.2605G>C
c.2300G>C (p.Ser767Thr)
c.2711G>C (p.Ser904Thr)
c.*2353G>C (n.*2353G>C)
n.2736G>C
c.167G>C (p.Ser56Thr)
c.2633G>C (p.Ser878Thr)
c.655+2648G>C (n.655+2648G>C)
c.1168-623G>C (n.1168-623G>C)
c.2564G>C (p.Ser855Thr)
c.2627G>C (p.Ser876Thr)
c.2615G>C (p.Ser872Thr)
2g.144398551C>TCA348707661ZEB2c.*2485G>A (n.*2485G>A)
c.1859G>A (p.Ser620Asn)
c.2636G>A (p.Ser879Asn)
n.2605G>A
c.2300G>A (p.Ser767Asn)
c.2711G>A (p.Ser904Asn)
c.*2353G>A (n.*2353G>A)
n.2736G>A
c.167G>A (p.Ser56Asn)
c.2633G>A (p.Ser878Asn)
c.655+2648G>A (n.655+2648G>A)
c.1168-623G>A (n.1168-623G>A)
c.2564G>A (p.Ser855Asn)
c.2627G>A (p.Ser876Asn)
c.2615G>A (p.Ser872Asn)
gnomAD v4
2g.144398552T>ACA348707666ZEB2c.*2484A>T (n.*2484A>T)
c.1858A>T (p.Ser620Cys)
c.2635A>T (p.Ser879Cys)
n.2604A>T
c.2299A>T (p.Ser767Cys)
c.2710A>T (p.Ser904Cys)
c.*2352A>T (n.*2352A>T)
n.2735A>T
c.166A>T (p.Ser56Cys)
c.2632A>T (p.Ser878Cys)
c.655+2647A>T (n.655+2647A>T)
c.1168-624A>T (n.1168-624A>T)
c.2563A>T (p.Ser855Cys)
c.2626A>T (p.Ser876Cys)
c.2614A>T (p.Ser872Cys)
2g.144398552T>CCA348707668ZEB2c.*2484A>G (n.*2484A>G)
c.1858A>G (p.Ser620Gly)
c.2635A>G (p.Ser879Gly)
n.2604A>G
c.2299A>G (p.Ser767Gly)
c.2710A>G (p.Ser904Gly)
c.*2352A>G (n.*2352A>G)
n.2735A>G
c.166A>G (p.Ser56Gly)
c.2632A>G (p.Ser878Gly)
c.655+2647A>G (n.655+2647A>G)
c.1168-624A>G (n.1168-624A>G)
c.2563A>G (p.Ser855Gly)
c.2626A>G (p.Ser876Gly)
c.2614A>G (p.Ser872Gly)
2g.144398552T>GCA348707667ZEB2c.*2484A>C (n.*2484A>C)
c.1858A>C (p.Ser620Arg)
c.2635A>C (p.Ser879Arg)
n.2604A>C
c.2299A>C (p.Ser767Arg)
c.2710A>C (p.Ser904Arg)
c.*2352A>C (n.*2352A>C)
n.2735A>C
c.166A>C (p.Ser56Arg)
c.2632A>C (p.Ser878Arg)
c.655+2647A>C (n.655+2647A>C)
c.1168-624A>C (n.1168-624A>C)
c.2563A>C (p.Ser855Arg)
c.2626A>C (p.Ser876Arg)
c.2614A>C (p.Ser872Arg)
2g.144398555delCA2586970083ZEB2c.*2484del (n.*2484del)
c.1858del (p.Ser620AlafsTer8)
c.2635del (p.Ser879AlafsTer8)
n.2604del
c.2299del (p.Ser767AlafsTer8)
c.2710del (p.Ser904AlafsTer8)
c.*2352del (n.*2352del)
n.2735del
c.166del (p.Ser56AlafsTer8)
c.2632del (p.Ser878AlafsTer8)
c.655+2647del (n.655+2647del)
c.1168-624del (n.1168-624del)
c.2563del (p.Ser855AlafsTer8)
c.2626del (p.Ser876AlafsTer8)
c.2614del (p.Ser872AlafsTer8)
2g.144398553T>ACA348707671ZEB2c.*2483A>T (n.*2483A>T)
c.1857A>T (p.Lys619Asn)
c.2634A>T (p.Lys878Asn)
n.2603A>T
c.2298A>T (p.Lys766Asn)
c.2709A>T (p.Lys903Asn)
c.*2351A>T (n.*2351A>T)
n.2734A>T
c.165A>T (p.Lys55Asn)
c.2631A>T (p.Lys877Asn)
c.655+2646A>T (n.655+2646A>T)
c.1168-625A>T (n.1168-625A>T)
c.2562A>T (p.Lys854Asn)
c.2625A>T (p.Lys875Asn)
c.2613A>T (p.Lys871Asn)
2g.144398553T>CCA429445172ZEB2c.*2483A>G (n.*2483A>G)
c.1857A>G (p.Lys619=)
c.2634A>G (p.Lys878=)
n.2603A>G
c.2298A>G (p.Lys766=)
c.2709A>G (p.Lys903=)
c.*2351A>G (n.*2351A>G)
n.2734A>G
c.165A>G (p.Lys55=)
c.2631A>G (p.Lys877=)
c.655+2646A>G (n.655+2646A>G)
c.1168-625A>G (n.1168-625A>G)
c.2562A>G (p.Lys854=)
c.2625A>G (p.Lys875=)
c.2613A>G (p.Lys871=)
2g.144398553T>GCA348707672ZEB2c.*2483A>C (n.*2483A>C)
c.1857A>C (p.Lys619Asn)
c.2634A>C (p.Lys878Asn)
n.2603A>C
c.2298A>C (p.Lys766Asn)
c.2709A>C (p.Lys903Asn)
c.*2351A>C (n.*2351A>C)
n.2734A>C
c.165A>C (p.Lys55Asn)
c.2631A>C (p.Lys877Asn)
c.655+2646A>C (n.655+2646A>C)
c.1168-625A>C (n.1168-625A>C)
c.2562A>C (p.Lys854Asn)
c.2625A>C (p.Lys875Asn)
c.2613A>C (p.Lys871Asn)
2g.144398554T>ACA348707674ZEB2c.*2482A>T (n.*2482A>T)
c.1856A>T (p.Lys619Ile)
c.2633A>T (p.Lys878Ile)
n.2602A>T
c.2297A>T (p.Lys766Ile)
c.2708A>T (p.Lys903Ile)
c.*2350A>T (n.*2350A>T)
n.2733A>T
c.164A>T (p.Lys55Ile)
c.2630A>T (p.Lys877Ile)
c.655+2645A>T (n.655+2645A>T)
c.1168-626A>T (n.1168-626A>T)
c.2561A>T (p.Lys854Ile)
c.2624A>T (p.Lys875Ile)
c.2612A>T (p.Lys871Ile)
2g.144398554T>CCA348707676ZEB2c.*2482A>G (n.*2482A>G)
c.1856A>G (p.Lys619Arg)
c.2633A>G (p.Lys878Arg)
n.2602A>G
c.2297A>G (p.Lys766Arg)
c.2708A>G (p.Lys903Arg)
c.*2350A>G (n.*2350A>G)
n.2733A>G
c.164A>G (p.Lys55Arg)
c.2630A>G (p.Lys877Arg)
c.655+2645A>G (n.655+2645A>G)
c.1168-626A>G (n.1168-626A>G)
c.2561A>G (p.Lys854Arg)
c.2624A>G (p.Lys875Arg)
c.2612A>G (p.Lys871Arg)
gnomAD v3 gnomAD v4
2g.144398554T>GCA348707678ZEB2c.*2482A>C (n.*2482A>C)
c.1856A>C (p.Lys619Thr)
c.2633A>C (p.Lys878Thr)
n.2602A>C
c.2297A>C (p.Lys766Thr)
c.2708A>C (p.Lys903Thr)
c.*2350A>C (n.*2350A>C)
n.2733A>C
c.164A>C (p.Lys55Thr)
c.2630A>C (p.Lys877Thr)
c.655+2645A>C (n.655+2645A>C)
c.1168-626A>C (n.1168-626A>C)
c.2561A>C (p.Lys854Thr)
c.2624A>C (p.Lys875Thr)
c.2612A>C (p.Lys871Thr)
2g.144398558_144398560delCA429445174ZEB2c.*2480_*2482del (n.*2480_*2482del)
c.1854_1856del (p.Asn618del)
c.2631_2633del (p.Asn877del)
n.2600_2602del
c.2295_2297del (p.Asn765del)
c.2706_2708del (p.Asn902del)
c.*2348_*2350del (n.*2348_*2350del)
n.2731_2733del
c.162_164del (p.Asn54del)
c.2628_2630del (p.Asn876del)
c.655+2643_655+2645del (n.655+2643_655+2645del)
c.1168-628_1168-626del (n.1168-628_1168-626del)
c.2559_2561del (p.Asn853del)
c.2622_2624del (p.Asn874del)
c.2610_2612del (p.Asn870del)
2g.144398555T>ACA348707680ZEB2c.*2481A>T (n.*2481A>T)
c.1855A>T (p.Lys619Ter)
c.2632A>T (p.Lys878Ter)
n.2601A>T
c.2296A>T (p.Lys766Ter)
c.2707A>T (p.Lys903Ter)
c.*2349A>T (n.*2349A>T)
n.2732A>T
c.163A>T (p.Lys55Ter)
c.2629A>T (p.Lys877Ter)
c.655+2644A>T (n.655+2644A>T)
c.1168-627A>T (n.1168-627A>T)
c.2560A>T (p.Lys854Ter)
c.2623A>T (p.Lys875Ter)
c.2611A>T (p.Lys871Ter)
2g.144398555T>CCA348707681ZEB2c.*2481A>G (n.*2481A>G)
c.1855A>G (p.Lys619Glu)
c.2632A>G (p.Lys878Glu)
n.2601A>G
c.2296A>G (p.Lys766Glu)
c.2707A>G (p.Lys903Glu)
c.*2349A>G (n.*2349A>G)
n.2732A>G
c.163A>G (p.Lys55Glu)
c.2629A>G (p.Lys877Glu)
c.655+2644A>G (n.655+2644A>G)
c.1168-627A>G (n.1168-627A>G)
c.2560A>G (p.Lys854Glu)
c.2623A>G (p.Lys875Glu)
c.2611A>G (p.Lys871Glu)
dbSNP gnomAD v4
2g.144398555T>GCA348707682ZEB2c.*2481A>C (n.*2481A>C)
c.1855A>C (p.Lys619Gln)
c.2632A>C (p.Lys878Gln)
n.2601A>C
c.2296A>C (p.Lys766Gln)
c.2707A>C (p.Lys903Gln)
c.*2349A>C (n.*2349A>C)
n.2732A>C
c.163A>C (p.Lys55Gln)
c.2629A>C (p.Lys877Gln)
c.655+2644A>C (n.655+2644A>C)
c.1168-627A>C (n.1168-627A>C)
c.2560A>C (p.Lys854Gln)
c.2623A>C (p.Lys875Gln)
c.2611A>C (p.Lys871Gln)
2g.144398555T=CA1294884939ZEB2c.*2481A= (n.*2481A=)
c.1855A= (p.Lys619=)
c.2632A= (p.Lys878=)
n.2601A=
c.2296A= (p.Lys766=)
c.2707A= (p.Lys903=)
c.*2349A= (n.*2349A=)
n.2732A=
c.163A= (p.Lys55=)
c.2629A= (p.Lys877=)
c.655+2644A= (n.655+2644A=)
c.1168-627A= (n.1168-627A=)
c.2560A= (p.Lys854=)
c.2623A= (p.Lys875=)
c.2611A= (p.Lys871=)
2g.144398556G>ACA429445176ZEB2c.*2480C>T (n.*2480C>T)
c.1854C>T (p.Asn618=)
c.2631C>T (p.Asn877=)
n.2600C>T
c.2295C>T (p.Asn765=)
c.2706C>T (p.Asn902=)
c.*2348C>T (n.*2348C>T)
n.2731C>T
c.162C>T (p.Asn54=)
c.2628C>T (p.Asn876=)
c.655+2643C>T (n.655+2643C>T)
c.1168-628C>T (n.1168-628C>T)
c.2559C>T (p.Asn853=)
c.2622C>T (p.Asn874=)
c.2610C>T (p.Asn870=)
dbSNP gnomAD v3 gnomAD v4
2g.144398556G>CCA348707684ZEB2c.*2480C>G (n.*2480C>G)
c.1854C>G (p.Asn618Lys)
c.2631C>G (p.Asn877Lys)
n.2600C>G
c.2295C>G (p.Asn765Lys)
c.2706C>G (p.Asn902Lys)
c.*2348C>G (n.*2348C>G)
n.2731C>G
c.162C>G (p.Asn54Lys)
c.2628C>G (p.Asn876Lys)
c.655+2643C>G (n.655+2643C>G)
c.1168-628C>G (n.1168-628C>G)
c.2559C>G (p.Asn853Lys)
c.2622C>G (p.Asn874Lys)
c.2610C>G (p.Asn870Lys)
dbSNP gnomAD v2 gnomAD v4
2g.144398556G=CA1294884940ZEB2c.*2480C= (n.*2480C=)
c.1854C= (p.Asn618=)
c.2631C= (p.Asn877=)
n.2600C=
c.2295C= (p.Asn765=)
c.2706C= (p.Asn902=)
c.*2348C= (n.*2348C=)
n.2731C=
c.162C= (p.Asn54=)
c.2628C= (p.Asn876=)
c.655+2643C= (n.655+2643C=)
c.1168-628C= (n.1168-628C=)
c.2559C= (p.Asn853=)
c.2622C= (p.Asn874=)
c.2610C= (p.Asn870=)
2g.144398556G>TCA348707686ZEB2c.*2480C>A (n.*2480C>A)
c.1854C>A (p.Asn618Lys)
c.2631C>A (p.Asn877Lys)
n.2600C>A
c.2295C>A (p.Asn765Lys)
c.2706C>A (p.Asn902Lys)
c.*2348C>A (n.*2348C>A)
n.2731C>A
c.162C>A (p.Asn54Lys)
c.2628C>A (p.Asn876Lys)
c.655+2643C>A (n.655+2643C>A)
c.1168-628C>A (n.1168-628C>A)
c.2559C>A (p.Asn853Lys)
c.2622C>A (p.Asn874Lys)
c.2610C>A (p.Asn870Lys)
gnomAD v4
2g.144398557T>ACA348707688ZEB2c.*2479A>T (n.*2479A>T)
c.1853A>T (p.Asn618Ile)
c.2630A>T (p.Asn877Ile)
n.2599A>T
c.2294A>T (p.Asn765Ile)
c.2705A>T (p.Asn902Ile)
c.*2347A>T (n.*2347A>T)
n.2730A>T
c.161A>T (p.Asn54Ile)
c.2627A>T (p.Asn876Ile)
c.655+2642A>T (n.655+2642A>T)
c.1168-629A>T (n.1168-629A>T)
c.2558A>T (p.Asn853Ile)
c.2621A>T (p.Asn874Ile)
c.2609A>T (p.Asn870Ile)
2g.144398557T>CCA348707689ZEB2c.*2479A>G (n.*2479A>G)
c.1853A>G (p.Asn618Ser)
c.2630A>G (p.Asn877Ser)
n.2599A>G
c.2294A>G (p.Asn765Ser)
c.2705A>G (p.Asn902Ser)
c.*2347A>G (n.*2347A>G)
n.2730A>G
c.161A>G (p.Asn54Ser)
c.2627A>G (p.Asn876Ser)
c.655+2642A>G (n.655+2642A>G)
c.1168-629A>G (n.1168-629A>G)
c.2558A>G (p.Asn853Ser)
c.2621A>G (p.Asn874Ser)
c.2609A>G (p.Asn870Ser)
2g.144398557T>GCA348707691ZEB2c.*2479A>C (n.*2479A>C)
c.1853A>C (p.Asn618Thr)
c.2630A>C (p.Asn877Thr)
n.2599A>C
c.2294A>C (p.Asn765Thr)
c.2705A>C (p.Asn902Thr)
c.*2347A>C (n.*2347A>C)
n.2730A>C
c.161A>C (p.Asn54Thr)
c.2627A>C (p.Asn876Thr)
c.655+2642A>C (n.655+2642A>C)
c.1168-629A>C (n.1168-629A>C)
c.2558A>C (p.Asn853Thr)
c.2621A>C (p.Asn874Thr)
c.2609A>C (p.Asn870Thr)
2g.144398558dupCA2697551038ZEB2c.*2479dup (n.*2479dup)
c.1853dup (p.Asn618LysfsTer5)
c.2630dup (p.Asn877LysfsTer5)
n.2599dup
c.2294dup (p.Asn765LysfsTer5)
c.2705dup (p.Asn902LysfsTer5)
c.*2347dup (n.*2347dup)
n.2730dup
c.161dup (p.Asn54LysfsTer5)
c.2627dup (p.Asn876LysfsTer5)
c.655+2642dup (n.655+2642dup)
c.1168-629dup (n.1168-629dup)
c.2558dup (p.Asn853LysfsTer5)
c.2621dup (p.Asn874LysfsTer5)
c.2609dup (p.Asn870LysfsTer5)
ClinVar
2g.144398558T>ACA348707693ZEB2c.*2478A>T (n.*2478A>T)
c.1852A>T (p.Asn618Tyr)
c.2629A>T (p.Asn877Tyr)
n.2598A>T
c.2293A>T (p.Asn765Tyr)
c.2704A>T (p.Asn902Tyr)
c.*2346A>T (n.*2346A>T)
n.2729A>T
c.160A>T (p.Asn54Tyr)
c.2626A>T (p.Asn876Tyr)
c.655+2641A>T (n.655+2641A>T)
c.1168-630A>T (n.1168-630A>T)
c.2557A>T (p.Asn853Tyr)
c.2620A>T (p.Asn874Tyr)
c.2608A>T (p.Asn870Tyr)
2g.144398558T>CCA348707697ZEB2c.*2478A>G (n.*2478A>G)
c.1852A>G (p.Asn618Asp)
c.2629A>G (p.Asn877Asp)
n.2598A>G
c.2293A>G (p.Asn765Asp)
c.2704A>G (p.Asn902Asp)
c.*2346A>G (n.*2346A>G)
n.2729A>G
c.160A>G (p.Asn54Asp)
c.2626A>G (p.Asn876Asp)
c.655+2641A>G (n.655+2641A>G)
c.1168-630A>G (n.1168-630A>G)
c.2557A>G (p.Asn853Asp)
c.2620A>G (p.Asn874Asp)
c.2608A>G (p.Asn870Asp)
2g.144398558T>GCA348707695ZEB2c.*2478A>C (n.*2478A>C)
c.1852A>C (p.Asn618His)
c.2629A>C (p.Asn877His)
n.2598A>C
c.2293A>C (p.Asn765His)
c.2704A>C (p.Asn902His)
c.*2346A>C (n.*2346A>C)
n.2729A>C
c.160A>C (p.Asn54His)
c.2626A>C (p.Asn876His)
c.655+2641A>C (n.655+2641A>C)
c.1168-630A>C (n.1168-630A>C)
c.2557A>C (p.Asn853His)
c.2620A>C (p.Asn874His)
c.2608A>C (p.Asn870His)
2g.144398559delCA2580063841ZEB2c.*2477del (n.*2477del)
c.1851del (p.Asp617GlufsTer11)
c.2628del (p.Asp876GlufsTer11)
n.2597del
c.2292del (p.Asp764GlufsTer11)
c.2703del (p.Asp901GlufsTer11)
c.*2345del (n.*2345del)
n.2728del
c.159del (p.Asp53GlufsTer11)
c.2625del (p.Asp875GlufsTer11)
c.655+2640del (n.655+2640del)
c.1168-631del (n.1168-631del)
c.2556del (p.Asp852GlufsTer11)
c.2619del (p.Asp873GlufsTer11)
c.2607del (p.Asp869GlufsTer11)
2g.144398559G>ACA429445178ZEB2c.*2477C>T (n.*2477C>T)
c.1851C>T (p.Asp617=)
c.2628C>T (p.Asp876=)
n.2597C>T
c.2292C>T (p.Asp764=)
c.2703C>T (p.Asp901=)
c.*2345C>T (n.*2345C>T)
n.2728C>T
c.159C>T (p.Asp53=)
c.2625C>T (p.Asp875=)
c.655+2640C>T (n.655+2640C>T)
c.1168-631C>T (n.1168-631C>T)
c.2556C>T (p.Asp852=)
c.2619C>T (p.Asp873=)
c.2607C>T (p.Asp869=)
2g.144398559G>CCA348707699ZEB2c.*2477C>G (n.*2477C>G)
c.1851C>G (p.Asp617Glu)
c.2628C>G (p.Asp876Glu)
n.2597C>G
c.2292C>G (p.Asp764Glu)
c.2703C>G (p.Asp901Glu)
c.*2345C>G (n.*2345C>G)
n.2728C>G
c.159C>G (p.Asp53Glu)
c.2625C>G (p.Asp875Glu)
c.655+2640C>G (n.655+2640C>G)
c.1168-631C>G (n.1168-631C>G)
c.2556C>G (p.Asp852Glu)
c.2619C>G (p.Asp873Glu)
c.2607C>G (p.Asp869Glu)
2g.144398559G>TCA348707700ZEB2c.*2477C>A (n.*2477C>A)
c.1851C>A (p.Asp617Glu)
c.2628C>A (p.Asp876Glu)
n.2597C>A
c.2292C>A (p.Asp764Glu)
c.2703C>A (p.Asp901Glu)
c.*2345C>A (n.*2345C>A)
n.2728C>A
c.159C>A (p.Asp53Glu)
c.2625C>A (p.Asp875Glu)
c.655+2640C>A (n.655+2640C>A)
c.1168-631C>A (n.1168-631C>A)
c.2556C>A (p.Asp852Glu)
c.2619C>A (p.Asp873Glu)
c.2607C>A (p.Asp869Glu)
2g.144398560T>ACA348707702ZEB2c.*2476A>T (n.*2476A>T)
c.1850A>T (p.Asp617Val)
c.2627A>T (p.Asp876Val)
n.2596A>T
c.2291A>T (p.Asp764Val)
c.2702A>T (p.Asp901Val)
c.*2344A>T (n.*2344A>T)
n.2727A>T
c.158A>T (p.Asp53Val)
c.2624A>T (p.Asp875Val)
c.655+2639A>T (n.655+2639A>T)
c.1168-632A>T (n.1168-632A>T)
c.2555A>T (p.Asp852Val)
c.2618A>T (p.Asp873Val)
c.2606A>T (p.Asp869Val)
gnomAD v4
2g.144398560T>CCA1898226ZEB2c.*2476A>G (n.*2476A>G)
c.1850A>G (p.Asp617Gly)
c.2627A>G (p.Asp876Gly)
n.2596A>G
c.2291A>G (p.Asp764Gly)
c.2702A>G (p.Asp901Gly)
c.*2344A>G (n.*2344A>G)
n.2727A>G
c.158A>G (p.Asp53Gly)
c.2624A>G (p.Asp875Gly)
c.655+2639A>G (n.655+2639A>G)
c.1168-632A>G (n.1168-632A>G)
c.2555A>G (p.Asp852Gly)
c.2618A>G (p.Asp873Gly)
c.2606A>G (p.Asp869Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398560T>GCA348707703ZEB2c.*2476A>C (n.*2476A>C)
c.1850A>C (p.Asp617Ala)
c.2627A>C (p.Asp876Ala)
n.2596A>C
c.2291A>C (p.Asp764Ala)
c.2702A>C (p.Asp901Ala)
c.*2344A>C (n.*2344A>C)
n.2727A>C
c.158A>C (p.Asp53Ala)
c.2624A>C (p.Asp875Ala)
c.655+2639A>C (n.655+2639A>C)
c.1168-632A>C (n.1168-632A>C)
c.2555A>C (p.Asp852Ala)
c.2618A>C (p.Asp873Ala)
c.2606A>C (p.Asp869Ala)
2g.144398560T=CA1294884941ZEB2c.*2476A= (n.*2476A=)
c.1850A= (p.Asp617=)
c.2627A= (p.Asp876=)
n.2596A=
c.2291A= (p.Asp764=)
c.2702A= (p.Asp901=)
c.*2344A= (n.*2344A=)
n.2727A=
c.158A= (p.Asp53=)
c.2624A= (p.Asp875=)
c.655+2639A= (n.655+2639A=)
c.1168-632A= (n.1168-632A=)
c.2555A= (p.Asp852=)
c.2618A= (p.Asp873=)
c.2606A= (p.Asp869=)
2g.144398561C>ACA348707705ZEB2c.*2475G>T (n.*2475G>T)
c.1849G>T (p.Asp617Tyr)
c.2626G>T (p.Asp876Tyr)
n.2595G>T
c.2290G>T (p.Asp764Tyr)
c.2701G>T (p.Asp901Tyr)
c.*2343G>T (n.*2343G>T)
n.2726G>T
c.157G>T (p.Asp53Tyr)
c.2623G>T (p.Asp875Tyr)
c.655+2638G>T (n.655+2638G>T)
c.1168-633G>T (n.1168-633G>T)
c.2554G>T (p.Asp852Tyr)
c.2617G>T (p.Asp873Tyr)
c.2605G>T (p.Asp869Tyr)
gnomAD v4
2g.144398561C>GCA348707707ZEB2c.*2475G>C (n.*2475G>C)
c.1849G>C (p.Asp617His)
c.2626G>C (p.Asp876His)
n.2595G>C
c.2290G>C (p.Asp764His)
c.2701G>C (p.Asp901His)
c.*2343G>C (n.*2343G>C)
n.2726G>C
c.157G>C (p.Asp53His)
c.2623G>C (p.Asp875His)
c.655+2638G>C (n.655+2638G>C)
c.1168-633G>C (n.1168-633G>C)
c.2554G>C (p.Asp852His)
c.2617G>C (p.Asp873His)
c.2605G>C (p.Asp869His)
2g.144398561C>TCA348707709ZEB2c.*2475G>A (n.*2475G>A)
c.1849G>A (p.Asp617Asn)
c.2626G>A (p.Asp876Asn)
n.2595G>A
c.2290G>A (p.Asp764Asn)
c.2701G>A (p.Asp901Asn)
c.*2343G>A (n.*2343G>A)
n.2726G>A
c.157G>A (p.Asp53Asn)
c.2623G>A (p.Asp875Asn)
c.655+2638G>A (n.655+2638G>A)
c.1168-633G>A (n.1168-633G>A)
c.2554G>A (p.Asp852Asn)
c.2617G>A (p.Asp873Asn)
c.2605G>A (p.Asp869Asn)
2g.144398562C>ACA429445196ZEB2c.*2474G>T (n.*2474G>T)
c.1848G>T (p.Leu616=)
c.2625G>T (p.Leu875=)
n.2594G>T
c.2289G>T (p.Leu763=)
c.2700G>T (p.Leu900=)
c.*2342G>T (n.*2342G>T)
n.2725G>T
c.156G>T (p.Leu52=)
c.2622G>T (p.Leu874=)
c.655+2637G>T (n.655+2637G>T)
c.1168-634G>T (n.1168-634G>T)
c.2553G>T (p.Leu851=)
c.2616G>T (p.Leu872=)
c.2604G>T (p.Leu868=)
COSMIC
2g.144398562C>GCA429445194ZEB2c.*2474G>C (n.*2474G>C)
c.1848G>C (p.Leu616=)
c.2625G>C (p.Leu875=)
n.2594G>C
c.2289G>C (p.Leu763=)
c.2700G>C (p.Leu900=)
c.*2342G>C (n.*2342G>C)
n.2725G>C
c.156G>C (p.Leu52=)
c.2622G>C (p.Leu874=)
c.655+2637G>C (n.655+2637G>C)
c.1168-634G>C (n.1168-634G>C)
c.2553G>C (p.Leu851=)
c.2616G>C (p.Leu872=)
c.2604G>C (p.Leu868=)
2g.144398562C>TCA429445191ZEB2c.*2474G>A (n.*2474G>A)
c.1848G>A (p.Leu616=)
c.2625G>A (p.Leu875=)
n.2594G>A
c.2289G>A (p.Leu763=)
c.2700G>A (p.Leu900=)
c.*2342G>A (n.*2342G>A)
n.2725G>A
c.156G>A (p.Leu52=)
c.2622G>A (p.Leu874=)
c.655+2637G>A (n.655+2637G>A)
c.1168-634G>A (n.1168-634G>A)
c.2553G>A (p.Leu851=)
c.2616G>A (p.Leu872=)
c.2604G>A (p.Leu868=)
2g.144398562_144398563delCA2586970084ZEB2c.*2473_*2474del (n.*2473_*2474del)
c.1847_1848del (p.Leu616ArgfsTer6)
c.2624_2625del (p.Leu875ArgfsTer6)
n.2593_2594del
c.2288_2289del (p.Leu763ArgfsTer6)
c.2699_2700del (p.Leu900ArgfsTer6)
c.*2341_*2342del (n.*2341_*2342del)
n.2724_2725del
c.155_156del (p.Leu52ArgfsTer6)
c.2621_2622del (p.Leu874ArgfsTer6)
c.655+2636_655+2637del (n.655+2636_655+2637del)
c.1168-635_1168-634del (n.1168-635_1168-634del)
c.2552_2553del (p.Leu851ArgfsTer6)
c.2615_2616del (p.Leu872ArgfsTer6)
c.2603_2604del (p.Leu868ArgfsTer6)
2g.144398563A=CA1294884942ZEB2c.*2473T= (n.*2473T=)
c.1847T= (p.Leu616=)
c.2624T= (p.Leu875=)
n.2593T=
c.2288T= (p.Leu763=)
c.2699T= (p.Leu900=)
c.*2341T= (n.*2341T=)
n.2724T=
c.155T= (p.Leu52=)
c.2621T= (p.Leu874=)
c.655+2636T= (n.655+2636T=)
c.1168-635T= (n.1168-635T=)
c.2552T= (p.Leu851=)
c.2615T= (p.Leu872=)
c.2603T= (p.Leu868=)
2g.144398563A>CCA297611ZEB2c.*2473T>G (n.*2473T>G)
c.1847T>G (p.Leu616Arg)
c.2624T>G (p.Leu875Arg)
n.2593T>G
c.2288T>G (p.Leu763Arg)
c.2699T>G (p.Leu900Arg)
c.*2341T>G (n.*2341T>G)
n.2724T>G
c.155T>G (p.Leu52Arg)
c.2621T>G (p.Leu874Arg)
c.655+2636T>G (n.655+2636T>G)
c.1168-635T>G (n.1168-635T>G)
c.2552T>G (p.Leu851Arg)
c.2615T>G (p.Leu872Arg)
c.2603T>G (p.Leu868Arg)
ClinVar dbSNP
2g.144398563A>GCA348707712ZEB2c.*2473T>C (n.*2473T>C)
c.1847T>C (p.Leu616Pro)
c.2624T>C (p.Leu875Pro)
n.2593T>C
c.2288T>C (p.Leu763Pro)
c.2699T>C (p.Leu900Pro)
c.*2341T>C (n.*2341T>C)
n.2724T>C
c.155T>C (p.Leu52Pro)
c.2621T>C (p.Leu874Pro)
c.655+2636T>C (n.655+2636T>C)
c.1168-635T>C (n.1168-635T>C)
c.2552T>C (p.Leu851Pro)
c.2615T>C (p.Leu872Pro)
c.2603T>C (p.Leu868Pro)
2g.144398563A>TCA348707714ZEB2c.*2473T>A (n.*2473T>A)
c.1847T>A (p.Leu616Gln)
c.2624T>A (p.Leu875Gln)
n.2593T>A
c.2288T>A (p.Leu763Gln)
c.2699T>A (p.Leu900Gln)
c.*2341T>A (n.*2341T>A)
n.2724T>A
c.155T>A (p.Leu52Gln)
c.2621T>A (p.Leu874Gln)
c.655+2636T>A (n.655+2636T>A)
c.1168-635T>A (n.1168-635T>A)
c.2552T>A (p.Leu851Gln)
c.2615T>A (p.Leu872Gln)
c.2603T>A (p.Leu868Gln)
2g.144398564G>ACA429445202ZEB2c.*2472C>T (n.*2472C>T)
c.1846C>T (p.Leu616=)
c.2623C>T (p.Leu875=)
n.2592C>T
c.2287C>T (p.Leu763=)
c.2698C>T (p.Leu900=)
c.*2340C>T (n.*2340C>T)
n.2723C>T
c.154C>T (p.Leu52=)
c.2620C>T (p.Leu874=)
c.655+2635C>T (n.655+2635C>T)
c.1168-636C>T (n.1168-636C>T)
c.2551C>T (p.Leu851=)
c.2614C>T (p.Leu872=)
c.2602C>T (p.Leu868=)
dbSNP gnomAD v2 gnomAD v4
2g.144398564G>CCA348707716ZEB2c.*2472C>G (n.*2472C>G)
c.1846C>G (p.Leu616Val)
c.2623C>G (p.Leu875Val)
n.2592C>G
c.2287C>G (p.Leu763Val)
c.2698C>G (p.Leu900Val)
c.*2340C>G (n.*2340C>G)
n.2723C>G
c.154C>G (p.Leu52Val)
c.2620C>G (p.Leu874Val)
c.655+2635C>G (n.655+2635C>G)
c.1168-636C>G (n.1168-636C>G)
c.2551C>G (p.Leu851Val)
c.2614C>G (p.Leu872Val)
c.2602C>G (p.Leu868Val)
2g.144398564G=CA1294884943ZEB2c.*2472C= (n.*2472C=)
c.1846C= (p.Leu616=)
c.2623C= (p.Leu875=)
n.2592C=
c.2287C= (p.Leu763=)
c.2698C= (p.Leu900=)
c.*2340C= (n.*2340C=)
n.2723C=
c.154C= (p.Leu52=)
c.2620C= (p.Leu874=)
c.655+2635C= (n.655+2635C=)
c.1168-636C= (n.1168-636C=)
c.2551C= (p.Leu851=)
c.2614C= (p.Leu872=)
c.2602C= (p.Leu868=)
2g.144398564G>TCA348707718ZEB2c.*2472C>A (n.*2472C>A)
c.1846C>A (p.Leu616Met)
c.2623C>A (p.Leu875Met)
n.2592C>A
c.2287C>A (p.Leu763Met)
c.2698C>A (p.Leu900Met)
c.*2340C>A (n.*2340C>A)
n.2723C>A
c.154C>A (p.Leu52Met)
c.2620C>A (p.Leu874Met)
c.655+2635C>A (n.655+2635C>A)
c.1168-636C>A (n.1168-636C>A)
c.2551C>A (p.Leu851Met)
c.2614C>A (p.Leu872Met)
c.2602C>A (p.Leu868Met)
2g.144398565A=CA1294884944ZEB2c.*2471T= (n.*2471T=)
c.1845T= (p.Asn615=)
c.2622T= (p.Asn874=)
n.2591T=
c.2286T= (p.Asn762=)
c.2697T= (p.Asn899=)
c.*2339T= (n.*2339T=)
n.2722T=
c.153T= (p.Asn51=)
c.2619T= (p.Asn873=)
c.655+2634T= (n.655+2634T=)
c.1168-637T= (n.1168-637T=)
c.2550T= (p.Asn850=)
c.2613T= (p.Asn871=)
c.2601T= (p.Asn867=)
2g.144398565A>CCA348707720ZEB2c.*2471T>G (n.*2471T>G)
c.1845T>G (p.Asn615Lys)
c.2622T>G (p.Asn874Lys)
n.2591T>G
c.2286T>G (p.Asn762Lys)
c.2697T>G (p.Asn899Lys)
c.*2339T>G (n.*2339T>G)
n.2722T>G
c.153T>G (p.Asn51Lys)
c.2619T>G (p.Asn873Lys)
c.655+2634T>G (n.655+2634T>G)
c.1168-637T>G (n.1168-637T>G)
c.2550T>G (p.Asn850Lys)
c.2613T>G (p.Asn871Lys)
c.2601T>G (p.Asn867Lys)
gnomAD v4
2g.144398565A>GCA429445206ZEB2c.*2471T>C (n.*2471T>C)
c.1845T>C (p.Asn615=)
c.2622T>C (p.Asn874=)
n.2591T>C
c.2286T>C (p.Asn762=)
c.2697T>C (p.Asn899=)
c.*2339T>C (n.*2339T>C)
n.2722T>C
c.153T>C (p.Asn51=)
c.2619T>C (p.Asn873=)
c.655+2634T>C (n.655+2634T>C)
c.1168-637T>C (n.1168-637T>C)
c.2550T>C (p.Asn850=)
c.2613T>C (p.Asn871=)
c.2601T>C (p.Asn867=)
ClinVar dbSNP
2g.144398565A>TCA1898227ZEB2c.*2471T>A (n.*2471T>A)
c.1845T>A (p.Asn615Lys)
c.2622T>A (p.Asn874Lys)
n.2591T>A
c.2286T>A (p.Asn762Lys)
c.2697T>A (p.Asn899Lys)
c.*2339T>A (n.*2339T>A)
n.2722T>A
c.153T>A (p.Asn51Lys)
c.2619T>A (p.Asn873Lys)
c.655+2634T>A (n.655+2634T>A)
c.1168-637T>A (n.1168-637T>A)
c.2550T>A (p.Asn850Lys)
c.2613T>A (p.Asn871Lys)
c.2601T>A (p.Asn867Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398566T>ACA348707724ZEB2c.*2470A>T (n.*2470A>T)
c.1844A>T (p.Asn615Ile)
c.2621A>T (p.Asn874Ile)
n.2590A>T
c.2285A>T (p.Asn762Ile)
c.2696A>T (p.Asn899Ile)
c.*2338A>T (n.*2338A>T)
n.2721A>T
c.152A>T (p.Asn51Ile)
c.2618A>T (p.Asn873Ile)
c.655+2633A>T (n.655+2633A>T)
c.1168-638A>T (n.1168-638A>T)
c.2549A>T (p.Asn850Ile)
c.2612A>T (p.Asn871Ile)
c.2600A>T (p.Asn867Ile)
gnomAD v4
2g.144398566T>CCA348707725ZEB2c.*2470A>G (n.*2470A>G)
c.1844A>G (p.Asn615Ser)
c.2621A>G (p.Asn874Ser)
n.2590A>G
c.2285A>G (p.Asn762Ser)
c.2696A>G (p.Asn899Ser)
c.*2338A>G (n.*2338A>G)
n.2721A>G
c.152A>G (p.Asn51Ser)
c.2618A>G (p.Asn873Ser)
c.655+2633A>G (n.655+2633A>G)
c.1168-638A>G (n.1168-638A>G)
c.2549A>G (p.Asn850Ser)
c.2612A>G (p.Asn871Ser)
c.2600A>G (p.Asn867Ser)
2g.144398566T>GCA348707727ZEB2c.*2470A>C (n.*2470A>C)
c.1844A>C (p.Asn615Thr)
c.2621A>C (p.Asn874Thr)
n.2590A>C
c.2285A>C (p.Asn762Thr)
c.2696A>C (p.Asn899Thr)
c.*2338A>C (n.*2338A>C)
n.2721A>C
c.152A>C (p.Asn51Thr)
c.2618A>C (p.Asn873Thr)
c.655+2633A>C (n.655+2633A>C)
c.1168-638A>C (n.1168-638A>C)
c.2549A>C (p.Asn850Thr)
c.2612A>C (p.Asn871Thr)
c.2600A>C (p.Asn867Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144398566T=CA1294884945ZEB2c.*2470A= (n.*2470A=)
c.1844A= (p.Asn615=)
c.2621A= (p.Asn874=)
n.2590A=
c.2285A= (p.Asn762=)
c.2696A= (p.Asn899=)
c.*2338A= (n.*2338A=)
n.2721A=
c.152A= (p.Asn51=)
c.2618A= (p.Asn873=)
c.655+2633A= (n.655+2633A=)
c.1168-638A= (n.1168-638A=)
c.2549A= (p.Asn850=)
c.2612A= (p.Asn871=)
c.2600A= (p.Asn867=)
2g.144398567delCA2586970085ZEB2c.*2470del (n.*2470del)
c.1844del (p.Asn615IlefsTer13)
c.2621del (p.Asn874IlefsTer13)
n.2590del
c.2285del (p.Asn762IlefsTer13)
c.2696del (p.Asn899IlefsTer13)
c.*2338del (n.*2338del)
n.2721del
c.152del (p.Asn51IlefsTer13)
c.2618del (p.Asn873IlefsTer13)
c.655+2633del (n.655+2633del)
c.1168-638del (n.1168-638del)
c.2549del (p.Asn850IlefsTer13)
c.2612del (p.Asn871IlefsTer13)
c.2600del (p.Asn867IlefsTer13)
2g.144398567T>ACA1898228ZEB2c.*2469A>T (n.*2469A>T)
c.1843A>T (p.Asn615Tyr)
c.2620A>T (p.Asn874Tyr)
n.2589A>T
c.2284A>T (p.Asn762Tyr)
c.2695A>T (p.Asn899Tyr)
c.*2337A>T (n.*2337A>T)
n.2720A>T
c.151A>T (p.Asn51Tyr)
c.2617A>T (p.Asn873Tyr)
c.655+2632A>T (n.655+2632A>T)
c.1168-639A>T (n.1168-639A>T)
c.2548A>T (p.Asn850Tyr)
c.2611A>T (p.Asn871Tyr)
c.2599A>T (p.Asn867Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398567T>CCA348707729ZEB2c.*2469A>G (n.*2469A>G)
c.1843A>G (p.Asn615Asp)
c.2620A>G (p.Asn874Asp)
n.2589A>G
c.2284A>G (p.Asn762Asp)
c.2695A>G (p.Asn899Asp)
c.*2337A>G (n.*2337A>G)
n.2720A>G
c.151A>G (p.Asn51Asp)
c.2617A>G (p.Asn873Asp)
c.655+2632A>G (n.655+2632A>G)
c.1168-639A>G (n.1168-639A>G)
c.2548A>G (p.Asn850Asp)
c.2611A>G (p.Asn871Asp)
c.2599A>G (p.Asn867Asp)
2g.144398567T>GCA348707730ZEB2c.*2469A>C (n.*2469A>C)
c.1843A>C (p.Asn615His)
c.2620A>C (p.Asn874His)
n.2589A>C
c.2284A>C (p.Asn762His)
c.2695A>C (p.Asn899His)
c.*2337A>C (n.*2337A>C)
n.2720A>C
c.151A>C (p.Asn51His)
c.2617A>C (p.Asn873His)
c.655+2632A>C (n.655+2632A>C)
c.1168-639A>C (n.1168-639A>C)
c.2548A>C (p.Asn850His)
c.2611A>C (p.Asn871His)
c.2599A>C (p.Asn867His)
2g.144398567T=CA1294884947ZEB2c.*2469A= (n.*2469A=)
c.1843A= (p.Asn615=)
c.2620A= (p.Asn874=)
n.2589A=
c.2284A= (p.Asn762=)
c.2695A= (p.Asn899=)
c.*2337A= (n.*2337A=)
n.2720A=
c.151A= (p.Asn51=)
c.2617A= (p.Asn873=)
c.655+2632A= (n.655+2632A=)
c.1168-639A= (n.1168-639A=)
c.2548A= (p.Asn850=)
c.2611A= (p.Asn871=)
c.2599A= (p.Asn867=)
2g.144398567_144398568delinsATCA916082204ZEB2c.*2468_*2469delinsAT (n.*2468_*2469delinsAT)
c.1842_1843delinsAT (p.Asn614_Asn615delinsLysTyr)
c.2619_2620delinsAT (p.Asn873_Asn874delinsLysTyr)
n.2588_2589delinsAT
c.2283_2284delinsAT (p.Asn761_Asn762delinsLysTyr)
c.2694_2695delinsAT (p.Asn898_Asn899delinsLysTyr)
c.*2336_*2337delinsAT (n.*2336_*2337delinsAT)
n.2719_2720delinsAT
c.150_151delinsAT (p.Asn50_Asn51delinsLysTyr)
c.2616_2617delinsAT (p.Asn872_Asn873delinsLysTyr)
c.655+2631_655+2632delinsAT (n.655+2631_655+2632delinsAT)
c.1168-640_1168-639delinsAT (n.1168-640_1168-639delinsAT)
c.2547_2548delinsAT (p.Asn849_Asn850delinsLysTyr)
c.2610_2611delinsAT (p.Asn870_Asn871delinsLysTyr)
c.2598_2599delinsAT (p.Asn866_Asn867delinsLysTyr)
ClinVar dbSNP
2g.144398567_144398568delinsTACA1294884946ZEB2c.*2468_*2469delinsTA (n.*2468_*2469delinsTA)
c.1842_1843delinsTA (p.Asn614=)
c.2619_2620delinsTA (p.Asn873=)
n.2588_2589delinsTA
c.2283_2284delinsTA (p.Asn761=)
c.2694_2695delinsTA (p.Asn898=)
c.*2336_*2337delinsTA (n.*2336_*2337delinsTA)
n.2719_2720delinsTA
c.150_151delinsTA (p.Asn50=)
c.2616_2617delinsTA (p.Asn872=)
c.655+2631_655+2632delinsTA (n.655+2631_655+2632delinsTA)
c.1168-640_1168-639delinsTA (n.1168-640_1168-639delinsTA)
c.2547_2548delinsTA (p.Asn849=)
c.2610_2611delinsTA (p.Asn870=)
c.2598_2599delinsTA (p.Asn866=)
2g.144398568A=CA1294884948ZEB2c.*2468T= (n.*2468T=)
c.1842T= (p.Asn614=)
c.2619T= (p.Asn873=)
n.2588T=
c.2283T= (p.Asn761=)
c.2694T= (p.Asn898=)
c.*2336T= (n.*2336T=)
n.2719T=
c.150T= (p.Asn50=)
c.2616T= (p.Asn872=)
c.655+2631T= (n.655+2631T=)
c.1168-640T= (n.1168-640T=)
c.2547T= (p.Asn849=)
c.2610T= (p.Asn870=)
c.2598T= (p.Asn866=)
2g.144398568A>CCA348707733ZEB2c.*2468T>G (n.*2468T>G)
c.1842T>G (p.Asn614Lys)
c.2619T>G (p.Asn873Lys)
n.2588T>G
c.2283T>G (p.Asn761Lys)
c.2694T>G (p.Asn898Lys)
c.*2336T>G (n.*2336T>G)
n.2719T>G
c.150T>G (p.Asn50Lys)
c.2616T>G (p.Asn872Lys)
c.655+2631T>G (n.655+2631T>G)
c.1168-640T>G (n.1168-640T>G)
c.2547T>G (p.Asn849Lys)
c.2610T>G (p.Asn870Lys)
c.2598T>G (p.Asn866Lys)
2g.144398568A>GCA429445214ZEB2c.*2468T>C (n.*2468T>C)
c.1842T>C (p.Asn614=)
c.2619T>C (p.Asn873=)
n.2588T>C
c.2283T>C (p.Asn761=)
c.2694T>C (p.Asn898=)
c.*2336T>C (n.*2336T>C)
n.2719T>C
c.150T>C (p.Asn50=)
c.2616T>C (p.Asn872=)
c.655+2631T>C (n.655+2631T>C)
c.1168-640T>C (n.1168-640T>C)
c.2547T>C (p.Asn849=)
c.2610T>C (p.Asn870=)
c.2598T>C (p.Asn866=)
2g.144398568A>TCA1898229ZEB2c.*2468T>A (n.*2468T>A)
c.1842T>A (p.Asn614Lys)
c.2619T>A (p.Asn873Lys)
n.2588T>A
c.2283T>A (p.Asn761Lys)
c.2694T>A (p.Asn898Lys)
c.*2336T>A (n.*2336T>A)
n.2719T>A
c.150T>A (p.Asn50Lys)
c.2616T>A (p.Asn872Lys)
c.655+2631T>A (n.655+2631T>A)
c.1168-640T>A (n.1168-640T>A)
c.2547T>A (p.Asn849Lys)
c.2610T>A (p.Asn870Lys)
c.2598T>A (p.Asn866Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398569T>ACA348707736ZEB2c.*2467A>T (n.*2467A>T)
c.1841A>T (p.Asn614Ile)
c.2618A>T (p.Asn873Ile)
n.2587A>T
c.2282A>T (p.Asn761Ile)
c.2693A>T (p.Asn898Ile)
c.*2335A>T (n.*2335A>T)
n.2718A>T
c.149A>T (p.Asn50Ile)
c.2615A>T (p.Asn872Ile)
c.655+2630A>T (n.655+2630A>T)
c.1168-641A>T (n.1168-641A>T)
c.2546A>T (p.Asn849Ile)
c.2609A>T (p.Asn870Ile)
c.2597A>T (p.Asn866Ile)
2g.144398569T>CCA348707738ZEB2c.*2467A>G (n.*2467A>G)
c.1841A>G (p.Asn614Ser)
c.2618A>G (p.Asn873Ser)
n.2587A>G
c.2282A>G (p.Asn761Ser)
c.2693A>G (p.Asn898Ser)
c.*2335A>G (n.*2335A>G)
n.2718A>G
c.149A>G (p.Asn50Ser)
c.2615A>G (p.Asn872Ser)
c.655+2630A>G (n.655+2630A>G)
c.1168-641A>G (n.1168-641A>G)
c.2546A>G (p.Asn849Ser)
c.2609A>G (p.Asn870Ser)
c.2597A>G (p.Asn866Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144398569T>GCA348707740ZEB2c.*2467A>C (n.*2467A>C)
c.1841A>C (p.Asn614Thr)
c.2618A>C (p.Asn873Thr)
n.2587A>C
c.2282A>C (p.Asn761Thr)
c.2693A>C (p.Asn898Thr)
c.*2335A>C (n.*2335A>C)
n.2718A>C
c.149A>C (p.Asn50Thr)
c.2615A>C (p.Asn872Thr)
c.655+2630A>C (n.655+2630A>C)
c.1168-641A>C (n.1168-641A>C)
c.2546A>C (p.Asn849Thr)
c.2609A>C (p.Asn870Thr)
c.2597A>C (p.Asn866Thr)
2g.144398569T=CA1294884949ZEB2c.*2467A= (n.*2467A=)
c.1841A= (p.Asn614=)
c.2618A= (p.Asn873=)
n.2587A=
c.2282A= (p.Asn761=)
c.2693A= (p.Asn898=)
c.*2335A= (n.*2335A=)
n.2718A=
c.149A= (p.Asn50=)
c.2615A= (p.Asn872=)
c.655+2630A= (n.655+2630A=)
c.1168-641A= (n.1168-641A=)
c.2546A= (p.Asn849=)
c.2609A= (p.Asn870=)
c.2597A= (p.Asn866=)
2g.144398570T>ACA348707746ZEB2c.*2466A>T (n.*2466A>T)
c.1840A>T (p.Asn614Tyr)
c.2617A>T (p.Asn873Tyr)
n.2586A>T
c.2281A>T (p.Asn761Tyr)
c.2692A>T (p.Asn898Tyr)
c.*2334A>T (n.*2334A>T)
n.2717A>T
c.148A>T (p.Asn50Tyr)
c.2614A>T (p.Asn872Tyr)
c.655+2629A>T (n.655+2629A>T)
c.1168-642A>T (n.1168-642A>T)
c.2545A>T (p.Asn849Tyr)
c.2608A>T (p.Asn870Tyr)
c.2596A>T (p.Asn866Tyr)
2g.144398570T>CCA348707742ZEB2c.*2466A>G (n.*2466A>G)
c.1840A>G (p.Asn614Asp)
c.2617A>G (p.Asn873Asp)
n.2586A>G
c.2281A>G (p.Asn761Asp)
c.2692A>G (p.Asn898Asp)
c.*2334A>G (n.*2334A>G)
n.2717A>G
c.148A>G (p.Asn50Asp)
c.2614A>G (p.Asn872Asp)
c.655+2629A>G (n.655+2629A>G)
c.1168-642A>G (n.1168-642A>G)
c.2545A>G (p.Asn849Asp)
c.2608A>G (p.Asn870Asp)
c.2596A>G (p.Asn866Asp)
dbSNP gnomAD v3 gnomAD v4
2g.144398570T>GCA348707744ZEB2c.*2466A>C (n.*2466A>C)
c.1840A>C (p.Asn614His)
c.2617A>C (p.Asn873His)
n.2586A>C
c.2281A>C (p.Asn761His)
c.2692A>C (p.Asn898His)
c.*2334A>C (n.*2334A>C)
n.2717A>C
c.148A>C (p.Asn50His)
c.2614A>C (p.Asn872His)
c.655+2629A>C (n.655+2629A>C)
c.1168-642A>C (n.1168-642A>C)
c.2545A>C (p.Asn849His)
c.2608A>C (p.Asn870His)
c.2596A>C (p.Asn866His)
2g.144398570T=CA1294884950ZEB2c.*2466A= (n.*2466A=)
c.1840A= (p.Asn614=)
c.2617A= (p.Asn873=)
n.2586A=
c.2281A= (p.Asn761=)
c.2692A= (p.Asn898=)
c.*2334A= (n.*2334A=)
n.2717A=
c.148A= (p.Asn50=)
c.2614A= (p.Asn872=)
c.655+2629A= (n.655+2629A=)
c.1168-642A= (n.1168-642A=)
c.2545A= (p.Asn849=)
c.2608A= (p.Asn870=)
c.2596A= (p.Asn866=)
2g.144398571T>ACA429445226ZEB2c.*2465A>T (n.*2465A>T)
c.1839A>T (p.Ser613=)
c.2616A>T (p.Ser872=)
n.2585A>T
c.2280A>T (p.Ser760=)
c.2691A>T (p.Ser897=)
c.*2333A>T (n.*2333A>T)
n.2716A>T
c.147A>T (p.Ser49=)
c.2613A>T (p.Ser871=)
c.655+2628A>T (n.655+2628A>T)
c.1168-643A>T (n.1168-643A>T)
c.2544A>T (p.Ser848=)
c.2607A>T (p.Ser869=)
c.2595A>T (p.Ser865=)
2g.144398571T>CCA429445227ZEB2c.*2465A>G (n.*2465A>G)
c.1839A>G (p.Ser613=)
c.2616A>G (p.Ser872=)
n.2585A>G
c.2280A>G (p.Ser760=)
c.2691A>G (p.Ser897=)
c.*2333A>G (n.*2333A>G)
n.2716A>G
c.147A>G (p.Ser49=)
c.2613A>G (p.Ser871=)
c.655+2628A>G (n.655+2628A>G)
c.1168-643A>G (n.1168-643A>G)
c.2544A>G (p.Ser848=)
c.2607A>G (p.Ser869=)
c.2595A>G (p.Ser865=)
gnomAD v4
2g.144398571T>GCA429445228ZEB2c.*2465A>C (n.*2465A>C)
c.1839A>C (p.Ser613=)
c.2616A>C (p.Ser872=)
n.2585A>C
c.2280A>C (p.Ser760=)
c.2691A>C (p.Ser897=)
c.*2333A>C (n.*2333A>C)
n.2716A>C
c.147A>C (p.Ser49=)
c.2613A>C (p.Ser871=)
c.655+2628A>C (n.655+2628A>C)
c.1168-643A>C (n.1168-643A>C)
c.2544A>C (p.Ser848=)
c.2607A>C (p.Ser869=)
c.2595A>C (p.Ser865=)
2g.144398571T=CA1294884951ZEB2c.*2465A= (n.*2465A=)
c.1839A= (p.Ser613=)
c.2616A= (p.Ser872=)
n.2585A=
c.2280A= (p.Ser760=)
c.2691A= (p.Ser897=)
c.*2333A= (n.*2333A=)
n.2716A=
c.147A= (p.Ser49=)
c.2613A= (p.Ser871=)
c.655+2628A= (n.655+2628A=)
c.1168-643A= (n.1168-643A=)
c.2544A= (p.Ser848=)
c.2607A= (p.Ser869=)
c.2595A= (p.Ser865=)
2g.144398571_144398572insTGATTATGTGCATGTAGCA1294884953ZEB2c.*2464_*2465insCTACATGCACATAATCA (n.*2464_*2465insCTACATGCACATAATCA)
c.1838_1839insCTACATGCACATAATCA (p.Asn614TyrfsTer20)
c.2615_2616insCTACATGCACATAATCA (p.Asn873TyrfsTer20)
n.2584_2585insCTACATGCACATAATCA
c.2279_2280insCTACATGCACATAATCA (p.Asn761TyrfsTer20)
c.2690_2691insCTACATGCACATAATCA (p.Asn898TyrfsTer20)
c.*2332_*2333insCTACATGCACATAATCA (n.*2332_*2333insCTACATGCACATAATCA)
n.2715_2716insCTACATGCACATAATCA
c.146_147insCTACATGCACATAATCA (p.Asn50TyrfsTer20)
c.2612_2613insCTACATGCACATAATCA (p.Asn872TyrfsTer20)
c.655+2627_655+2628insCTACATGCACATAATCA (n.655+2627_655+2628insCTACATGCACATAATCA)
c.1168-644_1168-643insCTACATGCACATAATCA (n.1168-644_1168-643insCTACATGCACATAATCA)
c.2543_2544insCTACATGCACATAATCA (p.Asn849TyrfsTer20)
c.2606_2607insCTACATGCACATAATCA (p.Asn870TyrfsTer20)
c.2594_2595insCTACATGCACATAATCA (p.Asn866TyrfsTer20)
dbSNP
2g.144398572G>ACA348707748ZEB2c.*2464C>T (n.*2464C>T)
c.1838C>T (p.Ser613Leu)
c.2615C>T (p.Ser872Leu)
n.2584C>T
c.2279C>T (p.Ser760Leu)
c.2690C>T (p.Ser897Leu)
c.*2332C>T (n.*2332C>T)
n.2715C>T
c.146C>T (p.Ser49Leu)
c.2612C>T (p.Ser871Leu)
c.655+2627C>T (n.655+2627C>T)
c.1168-644C>T (n.1168-644C>T)
c.2543C>T (p.Ser848Leu)
c.2606C>T (p.Ser869Leu)
c.2594C>T (p.Ser865Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398572G>CCA348707749ZEB2c.*2464C>G (n.*2464C>G)
c.1838C>G (p.Ser613Ter)
c.2615C>G (p.Ser872Ter)
n.2584C>G
c.2279C>G (p.Ser760Ter)
c.2690C>G (p.Ser897Ter)
c.*2332C>G (n.*2332C>G)
n.2715C>G
c.146C>G (p.Ser49Ter)
c.2612C>G (p.Ser871Ter)
c.655+2627C>G (n.655+2627C>G)
c.1168-644C>G (n.1168-644C>G)
c.2543C>G (p.Ser848Ter)
c.2606C>G (p.Ser869Ter)
c.2594C>G (p.Ser865Ter)
2g.144398572G=CA1294884952ZEB2c.*2464C= (n.*2464C=)
c.1838C= (p.Ser613=)
c.2615C= (p.Ser872=)
n.2584C=
c.2279C= (p.Ser760=)
c.2690C= (p.Ser897=)
c.*2332C= (n.*2332C=)
n.2715C=
c.146C= (p.Ser49=)
c.2612C= (p.Ser871=)
c.655+2627C= (n.655+2627C=)
c.1168-644C= (n.1168-644C=)
c.2543C= (p.Ser848=)
c.2606C= (p.Ser869=)
c.2594C= (p.Ser865=)
2g.144398572G>TCA348707751ZEB2c.*2464C>A (n.*2464C>A)
c.1838C>A (p.Ser613Ter)
c.2615C>A (p.Ser872Ter)
n.2584C>A
c.2279C>A (p.Ser760Ter)
c.2690C>A (p.Ser897Ter)
c.*2332C>A (n.*2332C>A)
n.2715C>A
c.146C>A (p.Ser49Ter)
c.2612C>A (p.Ser871Ter)
c.655+2627C>A (n.655+2627C>A)
c.1168-644C>A (n.1168-644C>A)
c.2543C>A (p.Ser848Ter)
c.2606C>A (p.Ser869Ter)
c.2594C>A (p.Ser865Ter)
2g.144398573A>CCA348707753ZEB2c.*2463T>G (n.*2463T>G)
c.1837T>G (p.Ser613Ala)
c.2614T>G (p.Ser872Ala)
n.2583T>G
c.2278T>G (p.Ser760Ala)
c.2689T>G (p.Ser897Ala)
c.*2331T>G (n.*2331T>G)
n.2714T>G
c.145T>G (p.Ser49Ala)
c.2611T>G (p.Ser871Ala)
c.655+2626T>G (n.655+2626T>G)
c.1168-645T>G (n.1168-645T>G)
c.2542T>G (p.Ser848Ala)
c.2605T>G (p.Ser869Ala)
c.2593T>G (p.Ser865Ala)
2g.144398573A>GCA348707754ZEB2c.*2463T>C (n.*2463T>C)
c.1837T>C (p.Ser613Pro)
c.2614T>C (p.Ser872Pro)
n.2583T>C
c.2278T>C (p.Ser760Pro)
c.2689T>C (p.Ser897Pro)
c.*2331T>C (n.*2331T>C)
n.2714T>C
c.145T>C (p.Ser49Pro)
c.2611T>C (p.Ser871Pro)
c.655+2626T>C (n.655+2626T>C)
c.1168-645T>C (n.1168-645T>C)
c.2542T>C (p.Ser848Pro)
c.2605T>C (p.Ser869Pro)
c.2593T>C (p.Ser865Pro)
2g.144398573A>TCA348707756ZEB2c.*2463T>A (n.*2463T>A)
c.1837T>A (p.Ser613Thr)
c.2614T>A (p.Ser872Thr)
n.2583T>A
c.2278T>A (p.Ser760Thr)
c.2689T>A (p.Ser897Thr)
c.*2331T>A (n.*2331T>A)
n.2714T>A
c.145T>A (p.Ser49Thr)
c.2611T>A (p.Ser871Thr)
c.655+2626T>A (n.655+2626T>A)
c.1168-645T>A (n.1168-645T>A)
c.2542T>A (p.Ser848Thr)
c.2605T>A (p.Ser869Thr)
c.2593T>A (p.Ser865Thr)
2g.144398574A=CA1294884954ZEB2c.*2462T= (n.*2462T=)
c.1836T= (p.Asn612=)
c.2613T= (p.Asn871=)
n.2582T=
c.2277T= (p.Asn759=)
c.2688T= (p.Asn896=)
c.*2330T= (n.*2330T=)
n.2713T=
c.144T= (p.Asn48=)
c.2610T= (p.Asn870=)
c.655+2625T= (n.655+2625T=)
c.1168-646T= (n.1168-646T=)
c.2541T= (p.Asn847=)
c.2604T= (p.Asn868=)
c.2592T= (p.Asn864=)
2g.144398574A>CCA1898230ZEB2c.*2462T>G (n.*2462T>G)
c.1836T>G (p.Asn612Lys)
c.2613T>G (p.Asn871Lys)
n.2582T>G
c.2277T>G (p.Asn759Lys)
c.2688T>G (p.Asn896Lys)
c.*2330T>G (n.*2330T>G)
n.2713T>G
c.144T>G (p.Asn48Lys)
c.2610T>G (p.Asn870Lys)
c.655+2625T>G (n.655+2625T>G)
c.1168-646T>G (n.1168-646T>G)
c.2541T>G (p.Asn847Lys)
c.2604T>G (p.Asn868Lys)
c.2592T>G (p.Asn864Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398574A>GCA429445237ZEB2c.*2462T>C (n.*2462T>C)
c.1836T>C (p.Asn612=)
c.2613T>C (p.Asn871=)
n.2582T>C
c.2277T>C (p.Asn759=)
c.2688T>C (p.Asn896=)
c.*2330T>C (n.*2330T>C)
n.2713T>C
c.144T>C (p.Asn48=)
c.2610T>C (p.Asn870=)
c.655+2625T>C (n.655+2625T>C)
c.1168-646T>C (n.1168-646T>C)
c.2541T>C (p.Asn847=)
c.2604T>C (p.Asn868=)
c.2592T>C (p.Asn864=)
2g.144398574A>TCA348707759ZEB2c.*2462T>A (n.*2462T>A)
c.1836T>A (p.Asn612Lys)
c.2613T>A (p.Asn871Lys)
n.2582T>A
c.2277T>A (p.Asn759Lys)
c.2688T>A (p.Asn896Lys)
c.*2330T>A (n.*2330T>A)
n.2713T>A
c.144T>A (p.Asn48Lys)
c.2610T>A (p.Asn870Lys)
c.655+2625T>A (n.655+2625T>A)
c.1168-646T>A (n.1168-646T>A)
c.2541T>A (p.Asn847Lys)
c.2604T>A (p.Asn868Lys)
c.2592T>A (p.Asn864Lys)
2g.144398575T>ACA348707760ZEB2c.*2461A>T (n.*2461A>T)
c.1835A>T (p.Asn612Ile)
c.2612A>T (p.Asn871Ile)
n.2581A>T
c.2276A>T (p.Asn759Ile)
c.2687A>T (p.Asn896Ile)
c.*2329A>T (n.*2329A>T)
n.2712A>T
c.143A>T (p.Asn48Ile)
c.2609A>T (p.Asn870Ile)
c.655+2624A>T (n.655+2624A>T)
c.1168-647A>T (n.1168-647A>T)
c.2540A>T (p.Asn847Ile)
c.2603A>T (p.Asn868Ile)
c.2591A>T (p.Asn864Ile)
2g.144398575T>CCA348707761ZEB2c.*2461A>G (n.*2461A>G)
c.1835A>G (p.Asn612Ser)
c.2612A>G (p.Asn871Ser)
n.2581A>G
c.2276A>G (p.Asn759Ser)
c.2687A>G (p.Asn896Ser)
c.*2329A>G (n.*2329A>G)
n.2712A>G
c.143A>G (p.Asn48Ser)
c.2609A>G (p.Asn870Ser)
c.655+2624A>G (n.655+2624A>G)
c.1168-647A>G (n.1168-647A>G)
c.2540A>G (p.Asn847Ser)
c.2603A>G (p.Asn868Ser)
c.2591A>G (p.Asn864Ser)
gnomAD v4
2g.144398575T>GCA348707763ZEB2c.*2461A>C (n.*2461A>C)
c.1835A>C (p.Asn612Thr)
c.2612A>C (p.Asn871Thr)
n.2581A>C
c.2276A>C (p.Asn759Thr)
c.2687A>C (p.Asn896Thr)
c.*2329A>C (n.*2329A>C)
n.2712A>C
c.143A>C (p.Asn48Thr)
c.2609A>C (p.Asn870Thr)
c.655+2624A>C (n.655+2624A>C)
c.1168-647A>C (n.1168-647A>C)
c.2540A>C (p.Asn847Thr)
c.2603A>C (p.Asn868Thr)
c.2591A>C (p.Asn864Thr)
2g.144398576T>ACA348707766ZEB2c.*2460A>T (n.*2460A>T)
c.1834A>T (p.Asn612Tyr)
c.2611A>T (p.Asn871Tyr)
n.2580A>T
c.2275A>T (p.Asn759Tyr)
c.2686A>T (p.Asn896Tyr)
c.*2328A>T (n.*2328A>T)
n.2711A>T
c.142A>T (p.Asn48Tyr)
c.2608A>T (p.Asn870Tyr)
c.655+2623A>T (n.655+2623A>T)
c.1168-648A>T (n.1168-648A>T)
c.2539A>T (p.Asn847Tyr)
c.2602A>T (p.Asn868Tyr)
c.2590A>T (p.Asn864Tyr)
2g.144398576T>CCA348707769ZEB2c.*2460A>G (n.*2460A>G)
c.1834A>G (p.Asn612Asp)
c.2611A>G (p.Asn871Asp)
n.2580A>G
c.2275A>G (p.Asn759Asp)
c.2686A>G (p.Asn896Asp)
c.*2328A>G (n.*2328A>G)
n.2711A>G
c.142A>G (p.Asn48Asp)
c.2608A>G (p.Asn870Asp)
c.655+2623A>G (n.655+2623A>G)
c.1168-648A>G (n.1168-648A>G)
c.2539A>G (p.Asn847Asp)
c.2602A>G (p.Asn868Asp)
c.2590A>G (p.Asn864Asp)
gnomAD v4
2g.144398576T>GCA348707767ZEB2c.*2460A>C (n.*2460A>C)
c.1834A>C (p.Asn612His)
c.2611A>C (p.Asn871His)
n.2580A>C
c.2275A>C (p.Asn759His)
c.2686A>C (p.Asn896His)
c.*2328A>C (n.*2328A>C)
n.2711A>C
c.142A>C (p.Asn48His)
c.2608A>C (p.Asn870His)
c.655+2623A>C (n.655+2623A>C)
c.1168-648A>C (n.1168-648A>C)
c.2539A>C (p.Asn847His)
c.2602A>C (p.Asn868His)
c.2590A>C (p.Asn864His)
2g.144398577T>ACA429445245ZEB2c.*2459A>T (n.*2459A>T)
c.1833A>T (p.Ser611=)
c.2610A>T (p.Ser870=)
n.2579A>T
c.2274A>T (p.Ser758=)
c.2685A>T (p.Ser895=)
c.*2327A>T (n.*2327A>T)
n.2710A>T
c.141A>T (p.Ser47=)
c.2607A>T (p.Ser869=)
c.655+2622A>T (n.655+2622A>T)
c.1168-649A>T (n.1168-649A>T)
c.2538A>T (p.Ser846=)
c.2601A>T (p.Ser867=)
c.2589A>T (p.Ser863=)
2g.144398577T>CCA429445246ZEB2c.*2459A>G (n.*2459A>G)
c.1833A>G (p.Ser611=)
c.2610A>G (p.Ser870=)
n.2579A>G
c.2274A>G (p.Ser758=)
c.2685A>G (p.Ser895=)
c.*2327A>G (n.*2327A>G)
n.2710A>G
c.141A>G (p.Ser47=)
c.2607A>G (p.Ser869=)
c.655+2622A>G (n.655+2622A>G)
c.1168-649A>G (n.1168-649A>G)
c.2538A>G (p.Ser846=)
c.2601A>G (p.Ser867=)
c.2589A>G (p.Ser863=)
2g.144398577T>GCA429445247ZEB2c.*2459A>C (n.*2459A>C)
c.1833A>C (p.Ser611=)
c.2610A>C (p.Ser870=)
n.2579A>C
c.2274A>C (p.Ser758=)
c.2685A>C (p.Ser895=)
c.*2327A>C (n.*2327A>C)
n.2710A>C
c.141A>C (p.Ser47=)
c.2607A>C (p.Ser869=)
c.655+2622A>C (n.655+2622A>C)
c.1168-649A>C (n.1168-649A>C)
c.2538A>C (p.Ser846=)
c.2601A>C (p.Ser867=)
c.2589A>C (p.Ser863=)
2g.144398578G>ACA348707771ZEB2c.*2458C>T (n.*2458C>T)
c.1832C>T (p.Ser611Leu)
c.2609C>T (p.Ser870Leu)
n.2578C>T
c.2273C>T (p.Ser758Leu)
c.2684C>T (p.Ser895Leu)
c.*2326C>T (n.*2326C>T)
n.2709C>T
c.140C>T (p.Ser47Leu)
c.2606C>T (p.Ser869Leu)
c.655+2621C>T (n.655+2621C>T)
c.1168-650C>T (n.1168-650C>T)
c.2537C>T (p.Ser846Leu)
c.2600C>T (p.Ser867Leu)
c.2588C>T (p.Ser863Leu)
2g.144398578G>CCA348707774ZEB2c.*2458C>G (n.*2458C>G)
c.1832C>G (p.Ser611Ter)
c.2609C>G (p.Ser870Ter)
n.2578C>G
c.2273C>G (p.Ser758Ter)
c.2684C>G (p.Ser895Ter)
c.*2326C>G (n.*2326C>G)
n.2709C>G
c.140C>G (p.Ser47Ter)
c.2606C>G (p.Ser869Ter)
c.655+2621C>G (n.655+2621C>G)
c.1168-650C>G (n.1168-650C>G)
c.2537C>G (p.Ser846Ter)
c.2600C>G (p.Ser867Ter)
c.2588C>G (p.Ser863Ter)
2g.144398578G=CA1294884955ZEB2c.*2458C= (n.*2458C=)
c.1832C= (p.Ser611=)
c.2609C= (p.Ser870=)
n.2578C=
c.2273C= (p.Ser758=)
c.2684C= (p.Ser895=)
c.*2326C= (n.*2326C=)
n.2709C=
c.140C= (p.Ser47=)
c.2606C= (p.Ser869=)
c.655+2621C= (n.655+2621C=)
c.1168-650C= (n.1168-650C=)
c.2537C= (p.Ser846=)
c.2600C= (p.Ser867=)
c.2588C= (p.Ser863=)
2g.144398578G>TCA348707772ZEB2c.*2458C>A (n.*2458C>A)
c.1832C>A (p.Ser611Ter)
c.2609C>A (p.Ser870Ter)
n.2578C>A
c.2273C>A (p.Ser758Ter)
c.2684C>A (p.Ser895Ter)
c.*2326C>A (n.*2326C>A)
n.2709C>A
c.140C>A (p.Ser47Ter)
c.2606C>A (p.Ser869Ter)
c.655+2621C>A (n.655+2621C>A)
c.1168-650C>A (n.1168-650C>A)
c.2537C>A (p.Ser846Ter)
c.2600C>A (p.Ser867Ter)
c.2588C>A (p.Ser863Ter)
ClinVar dbSNP
2g.144398579A>CCA348707776ZEB2c.*2457T>G (n.*2457T>G)
c.1831T>G (p.Ser611Ala)
c.2608T>G (p.Ser870Ala)
n.2577T>G
c.2272T>G (p.Ser758Ala)
c.2683T>G (p.Ser895Ala)
c.*2325T>G (n.*2325T>G)
n.2708T>G
c.139T>G (p.Ser47Ala)
c.2605T>G (p.Ser869Ala)
c.655+2620T>G (n.655+2620T>G)
c.1168-651T>G (n.1168-651T>G)
c.2536T>G (p.Ser846Ala)
c.2599T>G (p.Ser867Ala)
c.2587T>G (p.Ser863Ala)
2g.144398579A>GCA348707779ZEB2c.*2457T>C (n.*2457T>C)
c.1831T>C (p.Ser611Pro)
c.2608T>C (p.Ser870Pro)
n.2577T>C
c.2272T>C (p.Ser758Pro)
c.2683T>C (p.Ser895Pro)
c.*2325T>C (n.*2325T>C)
n.2708T>C
c.139T>C (p.Ser47Pro)
c.2605T>C (p.Ser869Pro)
c.655+2620T>C (n.655+2620T>C)
c.1168-651T>C (n.1168-651T>C)
c.2536T>C (p.Ser846Pro)
c.2599T>C (p.Ser867Pro)
c.2587T>C (p.Ser863Pro)
2g.144398579A>TCA348707777ZEB2c.*2457T>A (n.*2457T>A)
c.1831T>A (p.Ser611Thr)
c.2608T>A (p.Ser870Thr)
n.2577T>A
c.2272T>A (p.Ser758Thr)
c.2683T>A (p.Ser895Thr)
c.*2325T>A (n.*2325T>A)
n.2708T>A
c.139T>A (p.Ser47Thr)
c.2605T>A (p.Ser869Thr)
c.655+2620T>A (n.655+2620T>A)
c.1168-651T>A (n.1168-651T>A)
c.2536T>A (p.Ser846Thr)
c.2599T>A (p.Ser867Thr)
c.2587T>A (p.Ser863Thr)
2g.144398580A>CCA348707781ZEB2c.*2456T>G (n.*2456T>G)
c.1830T>G (p.Phe610Leu)
c.2607T>G (p.Phe869Leu)
n.2576T>G
c.2271T>G (p.Phe757Leu)
c.2682T>G (p.Phe894Leu)
c.*2324T>G (n.*2324T>G)
n.2707T>G
c.138T>G (p.Phe46Leu)
c.2604T>G (p.Phe868Leu)
c.655+2619T>G (n.655+2619T>G)
c.1168-652T>G (n.1168-652T>G)
c.2535T>G (p.Phe845Leu)
c.2598T>G (p.Phe866Leu)
c.2586T>G (p.Phe862Leu)
2g.144398580A>GCA429445256ZEB2c.*2456T>C (n.*2456T>C)
c.1830T>C (p.Phe610=)
c.2607T>C (p.Phe869=)
n.2576T>C
c.2271T>C (p.Phe757=)
c.2682T>C (p.Phe894=)
c.*2324T>C (n.*2324T>C)
n.2707T>C
c.138T>C (p.Phe46=)
c.2604T>C (p.Phe868=)
c.655+2619T>C (n.655+2619T>C)
c.1168-652T>C (n.1168-652T>C)
c.2535T>C (p.Phe845=)
c.2598T>C (p.Phe866=)
c.2586T>C (p.Phe862=)
2g.144398580A>TCA348707782ZEB2c.*2456T>A (n.*2456T>A)
c.1830T>A (p.Phe610Leu)
c.2607T>A (p.Phe869Leu)
n.2576T>A
c.2271T>A (p.Phe757Leu)
c.2682T>A (p.Phe894Leu)
c.*2324T>A (n.*2324T>A)
n.2707T>A
c.138T>A (p.Phe46Leu)
c.2604T>A (p.Phe868Leu)
c.655+2619T>A (n.655+2619T>A)
c.1168-652T>A (n.1168-652T>A)
c.2535T>A (p.Phe845Leu)
c.2598T>A (p.Phe866Leu)
c.2586T>A (p.Phe862Leu)
2g.144398581A>CCA348707784ZEB2c.*2455T>G (n.*2455T>G)
c.1829T>G (p.Phe610Cys)
c.2606T>G (p.Phe869Cys)
n.2575T>G
c.2270T>G (p.Phe757Cys)
c.2681T>G (p.Phe894Cys)
c.*2323T>G (n.*2323T>G)
n.2706T>G
c.137T>G (p.Phe46Cys)
c.2603T>G (p.Phe868Cys)
c.655+2618T>G (n.655+2618T>G)
c.1168-653T>G (n.1168-653T>G)
c.2534T>G (p.Phe845Cys)
c.2597T>G (p.Phe866Cys)
c.2585T>G (p.Phe862Cys)
2g.144398581A>GCA348707786ZEB2c.*2455T>C (n.*2455T>C)
c.1829T>C (p.Phe610Ser)
c.2606T>C (p.Phe869Ser)
n.2575T>C
c.2270T>C (p.Phe757Ser)
c.2681T>C (p.Phe894Ser)
c.*2323T>C (n.*2323T>C)
n.2706T>C
c.137T>C (p.Phe46Ser)
c.2603T>C (p.Phe868Ser)
c.655+2618T>C (n.655+2618T>C)
c.1168-653T>C (n.1168-653T>C)
c.2534T>C (p.Phe845Ser)
c.2597T>C (p.Phe866Ser)
c.2585T>C (p.Phe862Ser)
2g.144398581A>TCA348707787ZEB2c.*2455T>A (n.*2455T>A)
c.1829T>A (p.Phe610Tyr)
c.2606T>A (p.Phe869Tyr)
n.2575T>A
c.2270T>A (p.Phe757Tyr)
c.2681T>A (p.Phe894Tyr)
c.*2323T>A (n.*2323T>A)
n.2706T>A
c.137T>A (p.Phe46Tyr)
c.2603T>A (p.Phe868Tyr)
c.655+2618T>A (n.655+2618T>A)
c.1168-653T>A (n.1168-653T>A)
c.2534T>A (p.Phe845Tyr)
c.2597T>A (p.Phe866Tyr)
c.2585T>A (p.Phe862Tyr)
2g.144398582A>CCA348707789ZEB2c.*2454T>G (n.*2454T>G)
c.1828T>G (p.Phe610Val)
c.2605T>G (p.Phe869Val)
n.2574T>G
c.2269T>G (p.Phe757Val)
c.2680T>G (p.Phe894Val)
c.*2322T>G (n.*2322T>G)
n.2705T>G
c.136T>G (p.Phe46Val)
c.2602T>G (p.Phe868Val)
c.655+2617T>G (n.655+2617T>G)
c.1168-654T>G (n.1168-654T>G)
c.2533T>G (p.Phe845Val)
c.2596T>G (p.Phe866Val)
c.2584T>G (p.Phe862Val)
2g.144398582A>GCA348707790ZEB2c.*2454T>C (n.*2454T>C)
c.1828T>C (p.Phe610Leu)
c.2605T>C (p.Phe869Leu)
n.2574T>C
c.2269T>C (p.Phe757Leu)
c.2680T>C (p.Phe894Leu)
c.*2322T>C (n.*2322T>C)
n.2705T>C
c.136T>C (p.Phe46Leu)
c.2602T>C (p.Phe868Leu)
c.655+2617T>C (n.655+2617T>C)
c.1168-654T>C (n.1168-654T>C)
c.2533T>C (p.Phe845Leu)
c.2596T>C (p.Phe866Leu)
c.2584T>C (p.Phe862Leu)
2g.144398582A>TCA348707792ZEB2c.*2454T>A (n.*2454T>A)
c.1828T>A (p.Phe610Ile)
c.2605T>A (p.Phe869Ile)
n.2574T>A
c.2269T>A (p.Phe757Ile)
c.2680T>A (p.Phe894Ile)
c.*2322T>A (n.*2322T>A)
n.2705T>A
c.136T>A (p.Phe46Ile)
c.2602T>A (p.Phe868Ile)
c.655+2617T>A (n.655+2617T>A)
c.1168-654T>A (n.1168-654T>A)
c.2533T>A (p.Phe845Ile)
c.2596T>A (p.Phe866Ile)
c.2584T>A (p.Phe862Ile)
2g.144398583T>ACA348707793ZEB2c.*2453A>T (n.*2453A>T)
c.1827A>T (p.Glu609Asp)
c.2604A>T (p.Glu868Asp)
n.2573A>T
c.2268A>T (p.Glu756Asp)
c.2679A>T (p.Glu893Asp)
c.*2321A>T (n.*2321A>T)
n.2704A>T
c.135A>T (p.Glu45Asp)
c.2601A>T (p.Glu867Asp)
c.655+2616A>T (n.655+2616A>T)
c.1168-655A>T (n.1168-655A>T)
c.2532A>T (p.Glu844Asp)
c.2595A>T (p.Glu865Asp)
c.2583A>T (p.Glu861Asp)
2g.144398583T>CCA429445264ZEB2c.*2453A>G (n.*2453A>G)
c.1827A>G (p.Glu609=)
c.2604A>G (p.Glu868=)
n.2573A>G
c.2268A>G (p.Glu756=)
c.2679A>G (p.Glu893=)
c.*2321A>G (n.*2321A>G)
n.2704A>G
c.135A>G (p.Glu45=)
c.2601A>G (p.Glu867=)
c.655+2616A>G (n.655+2616A>G)
c.1168-655A>G (n.1168-655A>G)
c.2532A>G (p.Glu844=)
c.2595A>G (p.Glu865=)
c.2583A>G (p.Glu861=)
dbSNP
2g.144398583T>GCA348707794ZEB2c.*2453A>C (n.*2453A>C)
c.1827A>C (p.Glu609Asp)
c.2604A>C (p.Glu868Asp)
n.2573A>C
c.2268A>C (p.Glu756Asp)
c.2679A>C (p.Glu893Asp)
c.*2321A>C (n.*2321A>C)
n.2704A>C
c.135A>C (p.Glu45Asp)
c.2601A>C (p.Glu867Asp)
c.655+2616A>C (n.655+2616A>C)
c.1168-655A>C (n.1168-655A>C)
c.2532A>C (p.Glu844Asp)
c.2595A>C (p.Glu865Asp)
c.2583A>C (p.Glu861Asp)
2g.144398583T=CA1294884956ZEB2c.*2453A= (n.*2453A=)
c.1827A= (p.Glu609=)
c.2604A= (p.Glu868=)
n.2573A=
c.2268A= (p.Glu756=)
c.2679A= (p.Glu893=)
c.*2321A= (n.*2321A=)
n.2704A=
c.135A= (p.Glu45=)
c.2601A= (p.Glu867=)
c.655+2616A= (n.655+2616A=)
c.1168-655A= (n.1168-655A=)
c.2532A= (p.Glu844=)
c.2595A= (p.Glu865=)
c.2583A= (p.Glu861=)
2g.144398584T>ACA348707800ZEB2c.*2452A>T (n.*2452A>T)
c.1826A>T (p.Glu609Val)
c.2603A>T (p.Glu868Val)
n.2572A>T
c.2267A>T (p.Glu756Val)
c.2678A>T (p.Glu893Val)
c.*2320A>T (n.*2320A>T)
n.2703A>T
c.134A>T (p.Glu45Val)
c.2600A>T (p.Glu867Val)
c.655+2615A>T (n.655+2615A>T)
c.1168-656A>T (n.1168-656A>T)
c.2531A>T (p.Glu844Val)
c.2594A>T (p.Glu865Val)
c.2582A>T (p.Glu861Val)
2g.144398584T>CCA348707798ZEB2c.*2452A>G (n.*2452A>G)
c.1826A>G (p.Glu609Gly)
c.2603A>G (p.Glu868Gly)
n.2572A>G
c.2267A>G (p.Glu756Gly)
c.2678A>G (p.Glu893Gly)
c.*2320A>G (n.*2320A>G)
n.2703A>G
c.134A>G (p.Glu45Gly)
c.2600A>G (p.Glu867Gly)
c.655+2615A>G (n.655+2615A>G)
c.1168-656A>G (n.1168-656A>G)
c.2531A>G (p.Glu844Gly)
c.2594A>G (p.Glu865Gly)
c.2582A>G (p.Glu861Gly)
2g.144398584T>GCA348707796ZEB2c.*2452A>C (n.*2452A>C)
c.1826A>C (p.Glu609Ala)
c.2603A>C (p.Glu868Ala)
n.2572A>C
c.2267A>C (p.Glu756Ala)
c.2678A>C (p.Glu893Ala)
c.*2320A>C (n.*2320A>C)
n.2703A>C
c.134A>C (p.Glu45Ala)
c.2600A>C (p.Glu867Ala)
c.655+2615A>C (n.655+2615A>C)
c.1168-656A>C (n.1168-656A>C)
c.2531A>C (p.Glu844Ala)
c.2594A>C (p.Glu865Ala)
c.2582A>C (p.Glu861Ala)
2g.144398585C>ACA348707801ZEB2c.*2451G>T (n.*2451G>T)
c.1825G>T (p.Glu609Ter)
c.2602G>T (p.Glu868Ter)
n.2571G>T
c.2266G>T (p.Glu756Ter)
c.2677G>T (p.Glu893Ter)
c.*2319G>T (n.*2319G>T)
n.2702G>T
c.133G>T (p.Glu45Ter)
c.2599G>T (p.Glu867Ter)
c.655+2614G>T (n.655+2614G>T)
c.1168-657G>T (n.1168-657G>T)
c.2530G>T (p.Glu844Ter)
c.2593G>T (p.Glu865Ter)
c.2581G>T (p.Glu861Ter)
2g.144398585C=CA1294884957ZEB2c.*2451G= (n.*2451G=)
c.1825G= (p.Glu609=)
c.2602G= (p.Glu868=)
n.2571G=
c.2266G= (p.Glu756=)
c.2677G= (p.Glu893=)
c.*2319G= (n.*2319G=)
n.2702G=
c.133G= (p.Glu45=)
c.2599G= (p.Glu867=)
c.655+2614G= (n.655+2614G=)
c.1168-657G= (n.1168-657G=)
c.2530G= (p.Glu844=)
c.2593G= (p.Glu865=)
c.2581G= (p.Glu861=)
2g.144398585C>GCA348707803ZEB2c.*2451G>C (n.*2451G>C)
c.1825G>C (p.Glu609Gln)
c.2602G>C (p.Glu868Gln)
n.2571G>C
c.2266G>C (p.Glu756Gln)
c.2677G>C (p.Glu893Gln)
c.*2319G>C (n.*2319G>C)
n.2702G>C
c.133G>C (p.Glu45Gln)
c.2599G>C (p.Glu867Gln)
c.655+2614G>C (n.655+2614G>C)
c.1168-657G>C (n.1168-657G>C)
c.2530G>C (p.Glu844Gln)
c.2593G>C (p.Glu865Gln)
c.2581G>C (p.Glu861Gln)
2g.144398585C>TCA16621757ZEB2c.*2451G>A (n.*2451G>A)
c.1825G>A (p.Glu609Lys)
c.2602G>A (p.Glu868Lys)
n.2571G>A
c.2266G>A (p.Glu756Lys)
c.2677G>A (p.Glu893Lys)
c.*2319G>A (n.*2319G>A)
n.2702G>A
c.133G>A (p.Glu45Lys)
c.2599G>A (p.Glu867Lys)
c.655+2614G>A (n.655+2614G>A)
c.1168-657G>A (n.1168-657G>A)
c.2530G>A (p.Glu844Lys)
c.2593G>A (p.Glu865Lys)
c.2581G>A (p.Glu861Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398586C>ACA348707806ZEB2c.*2450G>T (n.*2450G>T)
c.1824G>T (p.Lys608Asn)
c.2601G>T (p.Lys867Asn)
n.2570G>T
c.2265G>T (p.Lys755Asn)
c.2676G>T (p.Lys892Asn)
c.*2318G>T (n.*2318G>T)
n.2701G>T
c.132G>T (p.Lys44Asn)
c.2598G>T (p.Lys866Asn)
c.655+2613G>T (n.655+2613G>T)
c.1168-658G>T (n.1168-658G>T)
c.2529G>T (p.Lys843Asn)
c.2592G>T (p.Lys864Asn)
c.2580G>T (p.Lys860Asn)
2g.144398586C=CA1294884958ZEB2c.*2450G= (n.*2450G=)
c.1824G= (p.Lys608=)
c.2601G= (p.Lys867=)
n.2570G=
c.2265G= (p.Lys755=)
c.2676G= (p.Lys892=)
c.*2318G= (n.*2318G=)
n.2701G=
c.132G= (p.Lys44=)
c.2598G= (p.Lys866=)
c.655+2613G= (n.655+2613G=)
c.1168-658G= (n.1168-658G=)
c.2529G= (p.Lys843=)
c.2592G= (p.Lys864=)
c.2580G= (p.Lys860=)
2g.144398586C>GCA348707808ZEB2c.*2450G>C (n.*2450G>C)
c.1824G>C (p.Lys608Asn)
c.2601G>C (p.Lys867Asn)
n.2570G>C
c.2265G>C (p.Lys755Asn)
c.2676G>C (p.Lys892Asn)
c.*2318G>C (n.*2318G>C)
n.2701G>C
c.132G>C (p.Lys44Asn)
c.2598G>C (p.Lys866Asn)
c.655+2613G>C (n.655+2613G>C)
c.1168-658G>C (n.1168-658G>C)
c.2529G>C (p.Lys843Asn)
c.2592G>C (p.Lys864Asn)
c.2580G>C (p.Lys860Asn)
2g.144398586C>TCA291675ZEB2c.*2450G>A (n.*2450G>A)
c.1824G>A (p.Lys608=)
c.2601G>A (p.Lys867=)
n.2570G>A
c.2265G>A (p.Lys755=)
c.2676G>A (p.Lys892=)
c.*2318G>A (n.*2318G>A)
n.2701G>A
c.132G>A (p.Lys44=)
c.2598G>A (p.Lys866=)
c.655+2613G>A (n.655+2613G>A)
c.1168-658G>A (n.1168-658G>A)
c.2529G>A (p.Lys843=)
c.2592G>A (p.Lys864=)
c.2580G>A (p.Lys860=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398587T>ACA348707811ZEB2c.*2449A>T (n.*2449A>T)
c.1823A>T (p.Lys608Met)
c.2600A>T (p.Lys867Met)
n.2569A>T
c.2264A>T (p.Lys755Met)
c.2675A>T (p.Lys892Met)
c.*2317A>T (n.*2317A>T)
n.2700A>T
c.131A>T (p.Lys44Met)
c.2597A>T (p.Lys866Met)
c.655+2612A>T (n.655+2612A>T)
c.1168-659A>T (n.1168-659A>T)
c.2528A>T (p.Lys843Met)
c.2591A>T (p.Lys864Met)
c.2579A>T (p.Lys860Met)
2g.144398587T>CCA348707813ZEB2c.*2449A>G (n.*2449A>G)
c.1823A>G (p.Lys608Arg)
c.2600A>G (p.Lys867Arg)
n.2569A>G
c.2264A>G (p.Lys755Arg)
c.2675A>G (p.Lys892Arg)
c.*2317A>G (n.*2317A>G)
n.2700A>G
c.131A>G (p.Lys44Arg)
c.2597A>G (p.Lys866Arg)
c.655+2612A>G (n.655+2612A>G)
c.1168-659A>G (n.1168-659A>G)
c.2528A>G (p.Lys843Arg)
c.2591A>G (p.Lys864Arg)
c.2579A>G (p.Lys860Arg)
2g.144398587T>GCA348707814ZEB2c.*2449A>C (n.*2449A>C)
c.1823A>C (p.Lys608Thr)
c.2600A>C (p.Lys867Thr)
n.2569A>C
c.2264A>C (p.Lys755Thr)
c.2675A>C (p.Lys892Thr)
c.*2317A>C (n.*2317A>C)
n.2700A>C
c.131A>C (p.Lys44Thr)
c.2597A>C (p.Lys866Thr)
c.655+2612A>C (n.655+2612A>C)
c.1168-659A>C (n.1168-659A>C)
c.2528A>C (p.Lys843Thr)
c.2591A>C (p.Lys864Thr)
c.2579A>C (p.Lys860Thr)
2g.144398588T>ACA348707817ZEB2c.*2448A>T (n.*2448A>T)
c.1822A>T (p.Lys608Ter)
c.2599A>T (p.Lys867Ter)
n.2568A>T
c.2263A>T (p.Lys755Ter)
c.2674A>T (p.Lys892Ter)
c.*2316A>T (n.*2316A>T)
n.2699A>T
c.130A>T (p.Lys44Ter)
c.2596A>T (p.Lys866Ter)
c.655+2611A>T (n.655+2611A>T)
c.1168-660A>T (n.1168-660A>T)
c.2527A>T (p.Lys843Ter)
c.2590A>T (p.Lys864Ter)
c.2578A>T (p.Lys860Ter)
2g.144398588T>CCA348707819ZEB2c.*2448A>G (n.*2448A>G)
c.1822A>G (p.Lys608Glu)
c.2599A>G (p.Lys867Glu)
n.2568A>G
c.2263A>G (p.Lys755Glu)
c.2674A>G (p.Lys892Glu)
c.*2316A>G (n.*2316A>G)
n.2699A>G
c.130A>G (p.Lys44Glu)
c.2596A>G (p.Lys866Glu)
c.655+2611A>G (n.655+2611A>G)
c.1168-660A>G (n.1168-660A>G)
c.2527A>G (p.Lys843Glu)
c.2590A>G (p.Lys864Glu)
c.2578A>G (p.Lys860Glu)
2g.144398588T>GCA348707820ZEB2c.*2448A>C (n.*2448A>C)
c.1822A>C (p.Lys608Gln)
c.2599A>C (p.Lys867Gln)
n.2568A>C
c.2263A>C (p.Lys755Gln)
c.2674A>C (p.Lys892Gln)
c.*2316A>C (n.*2316A>C)
n.2699A>C
c.130A>C (p.Lys44Gln)
c.2596A>C (p.Lys866Gln)
c.655+2611A>C (n.655+2611A>C)
c.1168-660A>C (n.1168-660A>C)
c.2527A>C (p.Lys843Gln)
c.2590A>C (p.Lys864Gln)
c.2578A>C (p.Lys860Gln)
2g.144398589C>ACA348707822ZEB2c.*2447G>T (n.*2447G>T)
c.1821G>T (p.Lys607Asn)
c.2598G>T (p.Lys866Asn)
n.2567G>T
c.2262G>T (p.Lys754Asn)
c.2673G>T (p.Lys891Asn)
c.*2315G>T (n.*2315G>T)
n.2698G>T
c.129G>T (p.Lys43Asn)
c.2595G>T (p.Lys865Asn)
c.655+2610G>T (n.655+2610G>T)
c.1168-661G>T (n.1168-661G>T)
c.2526G>T (p.Lys842Asn)
c.2589G>T (p.Lys863Asn)
c.2577G>T (p.Lys859Asn)
2g.144398589C>GCA348707823ZEB2c.*2447G>C (n.*2447G>C)
c.1821G>C (p.Lys607Asn)
c.2598G>C (p.Lys866Asn)
n.2567G>C
c.2262G>C (p.Lys754Asn)
c.2673G>C (p.Lys891Asn)
c.*2315G>C (n.*2315G>C)
n.2698G>C
c.129G>C (p.Lys43Asn)
c.2595G>C (p.Lys865Asn)
c.655+2610G>C (n.655+2610G>C)
c.1168-661G>C (n.1168-661G>C)
c.2526G>C (p.Lys842Asn)
c.2589G>C (p.Lys863Asn)
c.2577G>C (p.Lys859Asn)
COSMIC
2g.144398589C>TCA429445280ZEB2c.*2447G>A (n.*2447G>A)
c.1821G>A (p.Lys607=)
c.2598G>A (p.Lys866=)
n.2567G>A
c.2262G>A (p.Lys754=)
c.2673G>A (p.Lys891=)
c.*2315G>A (n.*2315G>A)
n.2698G>A
c.129G>A (p.Lys43=)
c.2595G>A (p.Lys865=)
c.655+2610G>A (n.655+2610G>A)
c.1168-661G>A (n.1168-661G>A)
c.2526G>A (p.Lys842=)
c.2589G>A (p.Lys863=)
c.2577G>A (p.Lys859=)
2g.144398590T>ACA348707826ZEB2c.*2446A>T (n.*2446A>T)
c.1820A>T (p.Lys607Met)
c.2597A>T (p.Lys866Met)
n.2566A>T
c.2261A>T (p.Lys754Met)
c.2672A>T (p.Lys891Met)
c.*2314A>T (n.*2314A>T)
n.2697A>T
c.128A>T (p.Lys43Met)
c.2594A>T (p.Lys865Met)
c.655+2609A>T (n.655+2609A>T)
c.1168-662A>T (n.1168-662A>T)
c.2525A>T (p.Lys842Met)
c.2588A>T (p.Lys863Met)
c.2576A>T (p.Lys859Met)
ClinVar dbSNP
2g.144398590T>CCA348707828ZEB2c.*2446A>G (n.*2446A>G)
c.1820A>G (p.Lys607Arg)
c.2597A>G (p.Lys866Arg)
n.2566A>G
c.2261A>G (p.Lys754Arg)
c.2672A>G (p.Lys891Arg)
c.*2314A>G (n.*2314A>G)
n.2697A>G
c.128A>G (p.Lys43Arg)
c.2594A>G (p.Lys865Arg)
c.655+2609A>G (n.655+2609A>G)
c.1168-662A>G (n.1168-662A>G)
c.2525A>G (p.Lys842Arg)
c.2588A>G (p.Lys863Arg)
c.2576A>G (p.Lys859Arg)
2g.144398590T>GCA348707829ZEB2c.*2446A>C (n.*2446A>C)
c.1820A>C (p.Lys607Thr)
c.2597A>C (p.Lys866Thr)
n.2566A>C
c.2261A>C (p.Lys754Thr)
c.2672A>C (p.Lys891Thr)
c.*2314A>C (n.*2314A>C)
n.2697A>C
c.128A>C (p.Lys43Thr)
c.2594A>C (p.Lys865Thr)
c.655+2609A>C (n.655+2609A>C)
c.1168-662A>C (n.1168-662A>C)
c.2525A>C (p.Lys842Thr)
c.2588A>C (p.Lys863Thr)
c.2576A>C (p.Lys859Thr)
2g.144398591T>ACA348707831ZEB2c.*2445A>T (n.*2445A>T)
c.1819A>T (p.Lys607Ter)
c.2596A>T (p.Lys866Ter)
n.2565A>T
c.2260A>T (p.Lys754Ter)
c.2671A>T (p.Lys891Ter)
c.*2313A>T (n.*2313A>T)
n.2696A>T
c.127A>T (p.Lys43Ter)
c.2593A>T (p.Lys865Ter)
c.655+2608A>T (n.655+2608A>T)
c.1168-663A>T (n.1168-663A>T)
c.2524A>T (p.Lys842Ter)
c.2587A>T (p.Lys863Ter)
c.2575A>T (p.Lys859Ter)
2g.144398591T>CCA348707833ZEB2c.*2445A>G (n.*2445A>G)
c.1819A>G (p.Lys607Glu)
c.2596A>G (p.Lys866Glu)
n.2565A>G
c.2260A>G (p.Lys754Glu)
c.2671A>G (p.Lys891Glu)
c.*2313A>G (n.*2313A>G)
n.2696A>G
c.127A>G (p.Lys43Glu)
c.2593A>G (p.Lys865Glu)
c.655+2608A>G (n.655+2608A>G)
c.1168-663A>G (n.1168-663A>G)
c.2524A>G (p.Lys842Glu)
c.2587A>G (p.Lys863Glu)
c.2575A>G (p.Lys859Glu)
2g.144398591T>GCA348707835ZEB2c.*2445A>C (n.*2445A>C)
c.1819A>C (p.Lys607Gln)
c.2596A>C (p.Lys866Gln)
n.2565A>C
c.2260A>C (p.Lys754Gln)
c.2671A>C (p.Lys891Gln)
c.*2313A>C (n.*2313A>C)
n.2696A>C
c.127A>C (p.Lys43Gln)
c.2593A>C (p.Lys865Gln)
c.655+2608A>C (n.655+2608A>C)
c.1168-663A>C (n.1168-663A>C)
c.2524A>C (p.Lys842Gln)
c.2587A>C (p.Lys863Gln)
c.2575A>C (p.Lys859Gln)
2g.144398592G>ACA429445282ZEB2c.*2444C>T (n.*2444C>T)
c.1818C>T (p.Ile606=)
c.2595C>T (p.Ile865=)
n.2564C>T
c.2259C>T (p.Ile753=)
c.2670C>T (p.Ile890=)
c.*2312C>T (n.*2312C>T)
n.2695C>T
c.126C>T (p.Ile42=)
c.2592C>T (p.Ile864=)
c.655+2607C>T (n.655+2607C>T)
c.1168-664C>T (n.1168-664C>T)
c.2523C>T (p.Ile841=)
c.2586C>T (p.Ile862=)
c.2574C>T (p.Ile858=)
dbSNP gnomAD v2 gnomAD v4
2g.144398592G>CCA348707836ZEB2c.*2444C>G (n.*2444C>G)
c.1818C>G (p.Ile606Met)
c.2595C>G (p.Ile865Met)
n.2564C>G
c.2259C>G (p.Ile753Met)
c.2670C>G (p.Ile890Met)
c.*2312C>G (n.*2312C>G)
n.2695C>G
c.126C>G (p.Ile42Met)
c.2592C>G (p.Ile864Met)
c.655+2607C>G (n.655+2607C>G)
c.1168-664C>G (n.1168-664C>G)
c.2523C>G (p.Ile841Met)
c.2586C>G (p.Ile862Met)
c.2574C>G (p.Ile858Met)
2g.144398592G=CA1294884959ZEB2c.*2444C= (n.*2444C=)
c.1818C= (p.Ile606=)
c.2595C= (p.Ile865=)
n.2564C=
c.2259C= (p.Ile753=)
c.2670C= (p.Ile890=)
c.*2312C= (n.*2312C=)
n.2695C=
c.126C= (p.Ile42=)
c.2592C= (p.Ile864=)
c.655+2607C= (n.655+2607C=)
c.1168-664C= (n.1168-664C=)
c.2523C= (p.Ile841=)
c.2586C= (p.Ile862=)
c.2574C= (p.Ile858=)
2g.144398592G>TCA429445287ZEB2c.*2444C>A (n.*2444C>A)
c.1818C>A (p.Ile606=)
c.2595C>A (p.Ile865=)
n.2564C>A
c.2259C>A (p.Ile753=)
c.2670C>A (p.Ile890=)
c.*2312C>A (n.*2312C>A)
n.2695C>A
c.126C>A (p.Ile42=)
c.2592C>A (p.Ile864=)
c.655+2607C>A (n.655+2607C>A)
c.1168-664C>A (n.1168-664C>A)
c.2523C>A (p.Ile841=)
c.2586C>A (p.Ile862=)
c.2574C>A (p.Ile858=)
2g.144398593A>CCA348707838ZEB2c.*2443T>G (n.*2443T>G)
c.1817T>G (p.Ile606Ser)
c.2594T>G (p.Ile865Ser)
n.2563T>G
c.2258T>G (p.Ile753Ser)
c.2669T>G (p.Ile890Ser)
c.*2311T>G (n.*2311T>G)
n.2694T>G
c.125T>G (p.Ile42Ser)
c.2591T>G (p.Ile864Ser)
c.655+2606T>G (n.655+2606T>G)
c.1168-665T>G (n.1168-665T>G)
c.2522T>G (p.Ile841Ser)
c.2585T>G (p.Ile862Ser)
c.2573T>G (p.Ile858Ser)
2g.144398593A>GCA348707839ZEB2c.*2443T>C (n.*2443T>C)
c.1817T>C (p.Ile606Thr)
c.2594T>C (p.Ile865Thr)
n.2563T>C
c.2258T>C (p.Ile753Thr)
c.2669T>C (p.Ile890Thr)
c.*2311T>C (n.*2311T>C)
n.2694T>C
c.125T>C (p.Ile42Thr)
c.2591T>C (p.Ile864Thr)
c.655+2606T>C (n.655+2606T>C)
c.1168-665T>C (n.1168-665T>C)
c.2522T>C (p.Ile841Thr)
c.2585T>C (p.Ile862Thr)
c.2573T>C (p.Ile858Thr)
COSMIC
2g.144398593A>TCA348707841ZEB2c.*2443T>A (n.*2443T>A)
c.1817T>A (p.Ile606Asn)
c.2594T>A (p.Ile865Asn)
n.2563T>A
c.2258T>A (p.Ile753Asn)
c.2669T>A (p.Ile890Asn)
c.*2311T>A (n.*2311T>A)
n.2694T>A
c.125T>A (p.Ile42Asn)
c.2591T>A (p.Ile864Asn)
c.655+2606T>A (n.655+2606T>A)
c.1168-665T>A (n.1168-665T>A)
c.2522T>A (p.Ile841Asn)
c.2585T>A (p.Ile862Asn)
c.2573T>A (p.Ile858Asn)
2g.144398594T>ACA348707843ZEB2c.*2442A>T (n.*2442A>T)
c.1816A>T (p.Ile606Phe)
c.2593A>T (p.Ile865Phe)
n.2562A>T
c.2257A>T (p.Ile753Phe)
c.2668A>T (p.Ile890Phe)
c.*2310A>T (n.*2310A>T)
n.2693A>T
c.124A>T (p.Ile42Phe)
c.2590A>T (p.Ile864Phe)
c.655+2605A>T (n.655+2605A>T)
c.1168-666A>T (n.1168-666A>T)
c.2521A>T (p.Ile841Phe)
c.2584A>T (p.Ile862Phe)
c.2572A>T (p.Ile858Phe)
2g.144398594T>CCA348707845ZEB2c.*2442A>G (n.*2442A>G)
c.1816A>G (p.Ile606Val)
c.2593A>G (p.Ile865Val)
n.2562A>G
c.2257A>G (p.Ile753Val)
c.2668A>G (p.Ile890Val)
c.*2310A>G (n.*2310A>G)
n.2693A>G
c.124A>G (p.Ile42Val)
c.2590A>G (p.Ile864Val)
c.655+2605A>G (n.655+2605A>G)
c.1168-666A>G (n.1168-666A>G)
c.2521A>G (p.Ile841Val)
c.2584A>G (p.Ile862Val)
c.2572A>G (p.Ile858Val)
2g.144398594T>GCA348707846ZEB2c.*2442A>C (n.*2442A>C)
c.1816A>C (p.Ile606Leu)
c.2593A>C (p.Ile865Leu)
n.2562A>C
c.2257A>C (p.Ile753Leu)
c.2668A>C (p.Ile890Leu)
c.*2310A>C (n.*2310A>C)
n.2693A>C
c.124A>C (p.Ile42Leu)
c.2590A>C (p.Ile864Leu)
c.655+2605A>C (n.655+2605A>C)
c.1168-666A>C (n.1168-666A>C)
c.2521A>C (p.Ile841Leu)
c.2584A>C (p.Ile862Leu)
c.2572A>C (p.Ile858Leu)
2g.144398595A>CCA348707848ZEB2c.*2441T>G (n.*2441T>G)
c.1815T>G (p.Phe605Leu)
c.2592T>G (p.Phe864Leu)
n.2561T>G
c.2256T>G (p.Phe752Leu)
c.2667T>G (p.Phe889Leu)
c.*2309T>G (n.*2309T>G)
n.2692T>G
c.123T>G (p.Phe41Leu)
c.2589T>G (p.Phe863Leu)
c.655+2604T>G (n.655+2604T>G)
c.1168-667T>G (n.1168-667T>G)
c.2520T>G (p.Phe840Leu)
c.2583T>G (p.Phe861Leu)
c.2571T>G (p.Phe857Leu)
2g.144398595A>GCA429445564ZEB2c.*2441T>C (n.*2441T>C)
c.1815T>C (p.Phe605=)
c.2592T>C (p.Phe864=)
n.2561T>C
c.2256T>C (p.Phe752=)
c.2667T>C (p.Phe889=)
c.*2309T>C (n.*2309T>C)
n.2692T>C
c.123T>C (p.Phe41=)
c.2589T>C (p.Phe863=)
c.655+2604T>C (n.655+2604T>C)
c.1168-667T>C (n.1168-667T>C)
c.2520T>C (p.Phe840=)
c.2583T>C (p.Phe861=)
c.2571T>C (p.Phe857=)
2g.144398595A>TCA348707850ZEB2c.*2441T>A (n.*2441T>A)
c.1815T>A (p.Phe605Leu)
c.2592T>A (p.Phe864Leu)
n.2561T>A
c.2256T>A (p.Phe752Leu)
c.2667T>A (p.Phe889Leu)
c.*2309T>A (n.*2309T>A)
n.2692T>A
c.123T>A (p.Phe41Leu)
c.2589T>A (p.Phe863Leu)
c.655+2604T>A (n.655+2604T>A)
c.1168-667T>A (n.1168-667T>A)
c.2520T>A (p.Phe840Leu)
c.2583T>A (p.Phe861Leu)
c.2571T>A (p.Phe857Leu)
COSMIC
2g.144398598delCA2499214971ZEB2c.*2441del (n.*2441del)
c.1815del (p.Phe605LeufsTer23)
c.2592del (p.Phe864LeufsTer23)
n.2561del
c.2256del (p.Phe752LeufsTer23)
c.2667del (p.Phe889LeufsTer23)
c.*2309del (n.*2309del)
n.2692del
c.123del (p.Phe41LeufsTer23)
c.2589del (p.Phe863LeufsTer23)
c.655+2604del (n.655+2604del)
c.1168-667del (n.1168-667del)
c.2520del (p.Phe840LeufsTer23)
c.2583del (p.Phe861LeufsTer23)
c.2571del (p.Phe857LeufsTer23)
ClinVar dbSNP
2g.144398596A>CCA348707852ZEB2c.*2440T>G (n.*2440T>G)
c.1814T>G (p.Phe605Cys)
c.2591T>G (p.Phe864Cys)
n.2560T>G
c.2255T>G (p.Phe752Cys)
c.2666T>G (p.Phe889Cys)
c.*2308T>G (n.*2308T>G)
n.2691T>G
c.122T>G (p.Phe41Cys)
c.2588T>G (p.Phe863Cys)
c.655+2603T>G (n.655+2603T>G)
c.1168-668T>G (n.1168-668T>G)
c.2519T>G (p.Phe840Cys)
c.2582T>G (p.Phe861Cys)
c.2570T>G (p.Phe857Cys)
COSMIC
2g.144398596A>GCA348707854ZEB2c.*2440T>C (n.*2440T>C)
c.1814T>C (p.Phe605Ser)
c.2591T>C (p.Phe864Ser)
n.2560T>C
c.2255T>C (p.Phe752Ser)
c.2666T>C (p.Phe889Ser)
c.*2308T>C (n.*2308T>C)
n.2691T>C
c.122T>C (p.Phe41Ser)
c.2588T>C (p.Phe863Ser)
c.655+2603T>C (n.655+2603T>C)
c.1168-668T>C (n.1168-668T>C)
c.2519T>C (p.Phe840Ser)
c.2582T>C (p.Phe861Ser)
c.2570T>C (p.Phe857Ser)
2g.144398596A>TCA348707855ZEB2c.*2440T>A (n.*2440T>A)
c.1814T>A (p.Phe605Tyr)
c.2591T>A (p.Phe864Tyr)
n.2560T>A
c.2255T>A (p.Phe752Tyr)
c.2666T>A (p.Phe889Tyr)
c.*2308T>A (n.*2308T>A)
n.2691T>A
c.122T>A (p.Phe41Tyr)
c.2588T>A (p.Phe863Tyr)
c.655+2603T>A (n.655+2603T>A)
c.1168-668T>A (n.1168-668T>A)
c.2519T>A (p.Phe840Tyr)
c.2582T>A (p.Phe861Tyr)
c.2570T>A (p.Phe857Tyr)
2g.144398597A>CCA348707858ZEB2c.*2439T>G (n.*2439T>G)
c.1813T>G (p.Phe605Val)
c.2590T>G (p.Phe864Val)
n.2559T>G
c.2254T>G (p.Phe752Val)
c.2665T>G (p.Phe889Val)
c.*2307T>G (n.*2307T>G)
n.2690T>G
c.121T>G (p.Phe41Val)
c.2587T>G (p.Phe863Val)
c.655+2602T>G (n.655+2602T>G)
c.1168-669T>G (n.1168-669T>G)
c.2518T>G (p.Phe840Val)
c.2581T>G (p.Phe861Val)
c.2569T>G (p.Phe857Val)
2g.144398597A>GCA348707859ZEB2c.*2439T>C (n.*2439T>C)
c.1813T>C (p.Phe605Leu)
c.2590T>C (p.Phe864Leu)
n.2559T>C
c.2254T>C (p.Phe752Leu)
c.2665T>C (p.Phe889Leu)
c.*2307T>C (n.*2307T>C)
n.2690T>C
c.121T>C (p.Phe41Leu)
c.2587T>C (p.Phe863Leu)
c.655+2602T>C (n.655+2602T>C)
c.1168-669T>C (n.1168-669T>C)
c.2518T>C (p.Phe840Leu)
c.2581T>C (p.Phe861Leu)
c.2569T>C (p.Phe857Leu)
2g.144398597A>TCA348707861ZEB2c.*2439T>A (n.*2439T>A)
c.1813T>A (p.Phe605Ile)
c.2590T>A (p.Phe864Ile)
n.2559T>A
c.2254T>A (p.Phe752Ile)
c.2665T>A (p.Phe889Ile)
c.*2307T>A (n.*2307T>A)
n.2690T>A
c.121T>A (p.Phe41Ile)
c.2587T>A (p.Phe863Ile)
c.655+2602T>A (n.655+2602T>A)
c.1168-669T>A (n.1168-669T>A)
c.2518T>A (p.Phe840Ile)
c.2581T>A (p.Phe861Ile)
c.2569T>A (p.Phe857Ile)
2g.144398598A=CA1294884960ZEB2c.*2438T= (n.*2438T=)
c.1812T= (p.Thr604=)
c.2589T= (p.Thr863=)
n.2558T=
c.2253T= (p.Thr751=)
c.2664T= (p.Thr888=)
c.*2306T= (n.*2306T=)
n.2689T=
c.120T= (p.Thr40=)
c.2586T= (p.Thr862=)
c.655+2601T= (n.655+2601T=)
c.1168-670T= (n.1168-670T=)
c.2517T= (p.Thr839=)
c.2580T= (p.Thr860=)
c.2568T= (p.Thr856=)
2g.144398598A>CCA429445568ZEB2c.*2438T>G (n.*2438T>G)
c.1812T>G (p.Thr604=)
c.2589T>G (p.Thr863=)
n.2558T>G
c.2253T>G (p.Thr751=)
c.2664T>G (p.Thr888=)
c.*2306T>G (n.*2306T>G)
n.2689T>G
c.120T>G (p.Thr40=)
c.2586T>G (p.Thr862=)
c.655+2601T>G (n.655+2601T>G)
c.1168-670T>G (n.1168-670T>G)
c.2517T>G (p.Thr839=)
c.2580T>G (p.Thr860=)
c.2568T>G (p.Thr856=)
2g.144398598A>GCA57554934ZEB2c.*2438T>C (n.*2438T>C)
c.1812T>C (p.Thr604=)
c.2589T>C (p.Thr863=)
n.2558T>C
c.2253T>C (p.Thr751=)
c.2664T>C (p.Thr888=)
c.*2306T>C (n.*2306T>C)
n.2689T>C
c.120T>C (p.Thr40=)
c.2586T>C (p.Thr862=)
c.655+2601T>C (n.655+2601T>C)
c.1168-670T>C (n.1168-670T>C)
c.2517T>C (p.Thr839=)
c.2580T>C (p.Thr860=)
c.2568T>C (p.Thr856=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398598A>TCA429445569ZEB2c.*2438T>A (n.*2438T>A)
c.1812T>A (p.Thr604=)
c.2589T>A (p.Thr863=)
n.2558T>A
c.2253T>A (p.Thr751=)
c.2664T>A (p.Thr888=)
c.*2306T>A (n.*2306T>A)
n.2689T>A
c.120T>A (p.Thr40=)
c.2586T>A (p.Thr862=)
c.655+2601T>A (n.655+2601T>A)
c.1168-670T>A (n.1168-670T>A)
c.2517T>A (p.Thr839=)
c.2580T>A (p.Thr860=)
c.2568T>A (p.Thr856=)
2g.144398599G>ACA348707862ZEB2c.*2437C>T (n.*2437C>T)
c.1811C>T (p.Thr604Ile)
c.2588C>T (p.Thr863Ile)
n.2557C>T
c.2252C>T (p.Thr751Ile)
c.2663C>T (p.Thr888Ile)
c.*2305C>T (n.*2305C>T)
n.2688C>T
c.119C>T (p.Thr40Ile)
c.2585C>T (p.Thr862Ile)
c.655+2600C>T (n.655+2600C>T)
c.1168-671C>T (n.1168-671C>T)
c.2516C>T (p.Thr839Ile)
c.2579C>T (p.Thr860Ile)
c.2567C>T (p.Thr856Ile)
gnomAD v4
2g.144398599G>CCA348707864ZEB2c.*2437C>G (n.*2437C>G)
c.1811C>G (p.Thr604Ser)
c.2588C>G (p.Thr863Ser)
n.2557C>G
c.2252C>G (p.Thr751Ser)
c.2663C>G (p.Thr888Ser)
c.*2305C>G (n.*2305C>G)
n.2688C>G
c.119C>G (p.Thr40Ser)
c.2585C>G (p.Thr862Ser)
c.655+2600C>G (n.655+2600C>G)
c.1168-671C>G (n.1168-671C>G)
c.2516C>G (p.Thr839Ser)
c.2579C>G (p.Thr860Ser)
c.2567C>G (p.Thr856Ser)
2g.144398599G>TCA348707866ZEB2c.*2437C>A (n.*2437C>A)
c.1811C>A (p.Thr604Asn)
c.2588C>A (p.Thr863Asn)
n.2557C>A
c.2252C>A (p.Thr751Asn)
c.2663C>A (p.Thr888Asn)
c.*2305C>A (n.*2305C>A)
n.2688C>A
c.119C>A (p.Thr40Asn)
c.2585C>A (p.Thr862Asn)
c.655+2600C>A (n.655+2600C>A)
c.1168-671C>A (n.1168-671C>A)
c.2516C>A (p.Thr839Asn)
c.2579C>A (p.Thr860Asn)
c.2567C>A (p.Thr856Asn)
2g.144398600T>ACA348707868ZEB2c.*2436A>T (n.*2436A>T)
c.1810A>T (p.Thr604Ser)
c.2587A>T (p.Thr863Ser)
n.2556A>T
c.2251A>T (p.Thr751Ser)
c.2662A>T (p.Thr888Ser)
c.*2304A>T (n.*2304A>T)
n.2687A>T
c.118A>T (p.Thr40Ser)
c.2584A>T (p.Thr862Ser)
c.655+2599A>T (n.655+2599A>T)
c.1168-672A>T (n.1168-672A>T)
c.2515A>T (p.Thr839Ser)
c.2578A>T (p.Thr860Ser)
c.2566A>T (p.Thr856Ser)
2g.144398600T>CCA348707869ZEB2c.*2436A>G (n.*2436A>G)
c.1810A>G (p.Thr604Ala)
c.2587A>G (p.Thr863Ala)
n.2556A>G
c.2251A>G (p.Thr751Ala)
c.2662A>G (p.Thr888Ala)
c.*2304A>G (n.*2304A>G)
n.2687A>G
c.118A>G (p.Thr40Ala)
c.2584A>G (p.Thr862Ala)
c.655+2599A>G (n.655+2599A>G)
c.1168-672A>G (n.1168-672A>G)
c.2515A>G (p.Thr839Ala)
c.2578A>G (p.Thr860Ala)
c.2566A>G (p.Thr856Ala)
2g.144398600T>GCA348707871ZEB2c.*2436A>C (n.*2436A>C)
c.1810A>C (p.Thr604Pro)
c.2587A>C (p.Thr863Pro)
n.2556A>C
c.2251A>C (p.Thr751Pro)
c.2662A>C (p.Thr888Pro)
c.*2304A>C (n.*2304A>C)
n.2687A>C
c.118A>C (p.Thr40Pro)
c.2584A>C (p.Thr862Pro)
c.655+2599A>C (n.655+2599A>C)
c.1168-672A>C (n.1168-672A>C)
c.2515A>C (p.Thr839Pro)
c.2578A>C (p.Thr860Pro)
c.2566A>C (p.Thr856Pro)
2g.144398601C>ACA348707874ZEB2c.*2435G>T (n.*2435G>T)
c.1809G>T (p.Leu603Phe)
c.2586G>T (p.Leu862Phe)
n.2555G>T
c.2250G>T (p.Leu750Phe)
c.2661G>T (p.Leu887Phe)
c.*2303G>T (n.*2303G>T)
n.2686G>T
c.117G>T (p.Leu39Phe)
c.2583G>T (p.Leu861Phe)
c.655+2598G>T (n.655+2598G>T)
c.1168-673G>T (n.1168-673G>T)
c.2514G>T (p.Leu838Phe)
c.2577G>T (p.Leu859Phe)
c.2565G>T (p.Leu855Phe)
gnomAD v4
2g.144398601C=CA1294884961ZEB2c.*2435G= (n.*2435G=)
c.1809G= (p.Leu603=)
c.2586G= (p.Leu862=)
n.2555G=
c.2250G= (p.Leu750=)
c.2661G= (p.Leu887=)
c.*2303G= (n.*2303G=)
n.2686G=
c.117G= (p.Leu39=)
c.2583G= (p.Leu861=)
c.655+2598G= (n.655+2598G=)
c.1168-673G= (n.1168-673G=)
c.2514G= (p.Leu838=)
c.2577G= (p.Leu859=)
c.2565G= (p.Leu855=)
2g.144398601C>GCA348707875ZEB2c.*2435G>C (n.*2435G>C)
c.1809G>C (p.Leu603Phe)
c.2586G>C (p.Leu862Phe)
n.2555G>C
c.2250G>C (p.Leu750Phe)
c.2661G>C (p.Leu887Phe)
c.*2303G>C (n.*2303G>C)
n.2686G>C
c.117G>C (p.Leu39Phe)
c.2583G>C (p.Leu861Phe)
c.655+2598G>C (n.655+2598G>C)
c.1168-673G>C (n.1168-673G>C)
c.2514G>C (p.Leu838Phe)
c.2577G>C (p.Leu859Phe)
c.2565G>C (p.Leu855Phe)
gnomAD v4
2g.144398601C>TCA429445574ZEB2c.*2435G>A (n.*2435G>A)
c.1809G>A (p.Leu603=)
c.2586G>A (p.Leu862=)
n.2555G>A
c.2250G>A (p.Leu750=)
c.2661G>A (p.Leu887=)
c.*2303G>A (n.*2303G>A)
n.2686G>A
c.117G>A (p.Leu39=)
c.2583G>A (p.Leu861=)
c.655+2598G>A (n.655+2598G>A)
c.1168-673G>A (n.1168-673G>A)
c.2514G>A (p.Leu838=)
c.2577G>A (p.Leu859=)
c.2565G>A (p.Leu855=)
dbSNP
2g.144398602A>CCA348707878ZEB2c.*2434T>G (n.*2434T>G)
c.1808T>G (p.Leu603Trp)
c.2585T>G (p.Leu862Trp)
n.2554T>G
c.2249T>G (p.Leu750Trp)
c.2660T>G (p.Leu887Trp)
c.*2302T>G (n.*2302T>G)
n.2685T>G
c.116T>G (p.Leu39Trp)
c.2582T>G (p.Leu861Trp)
c.655+2597T>G (n.655+2597T>G)
c.1168-674T>G (n.1168-674T>G)
c.2513T>G (p.Leu838Trp)
c.2576T>G (p.Leu859Trp)
c.2564T>G (p.Leu855Trp)
2g.144398602A>GCA348707879ZEB2c.*2434T>C (n.*2434T>C)
c.1808T>C (p.Leu603Ser)
c.2585T>C (p.Leu862Ser)
n.2554T>C
c.2249T>C (p.Leu750Ser)
c.2660T>C (p.Leu887Ser)
c.*2302T>C (n.*2302T>C)
n.2685T>C
c.116T>C (p.Leu39Ser)
c.2582T>C (p.Leu861Ser)
c.655+2597T>C (n.655+2597T>C)
c.1168-674T>C (n.1168-674T>C)
c.2513T>C (p.Leu838Ser)
c.2576T>C (p.Leu859Ser)
c.2564T>C (p.Leu855Ser)
2g.144398602A>TCA348707881ZEB2c.*2434T>A (n.*2434T>A)
c.1808T>A (p.Leu603Ter)
c.2585T>A (p.Leu862Ter)
n.2554T>A
c.2249T>A (p.Leu750Ter)
c.2660T>A (p.Leu887Ter)
c.*2302T>A (n.*2302T>A)
n.2685T>A
c.116T>A (p.Leu39Ter)
c.2582T>A (p.Leu861Ter)
c.655+2597T>A (n.655+2597T>A)
c.1168-674T>A (n.1168-674T>A)
c.2513T>A (p.Leu838Ter)
c.2576T>A (p.Leu859Ter)
c.2564T>A (p.Leu855Ter)
COSMIC
2g.144398603A>CCA348707882ZEB2c.*2433T>G (n.*2433T>G)
c.1807T>G (p.Leu603Val)
c.2584T>G (p.Leu862Val)
n.2553T>G
c.2248T>G (p.Leu750Val)
c.2659T>G (p.Leu887Val)
c.*2301T>G (n.*2301T>G)
n.2684T>G
c.115T>G (p.Leu39Val)
c.2581T>G (p.Leu861Val)
c.655+2596T>G (n.655+2596T>G)
c.1168-675T>G (n.1168-675T>G)
c.2512T>G (p.Leu838Val)
c.2575T>G (p.Leu859Val)
c.2563T>G (p.Leu855Val)
COSMIC
2g.144398603A>GCA429445580ZEB2c.*2433T>C (n.*2433T>C)
c.1807T>C (p.Leu603=)
c.2584T>C (p.Leu862=)
n.2553T>C
c.2248T>C (p.Leu750=)
c.2659T>C (p.Leu887=)
c.*2301T>C (n.*2301T>C)
n.2684T>C
c.115T>C (p.Leu39=)
c.2581T>C (p.Leu861=)
c.655+2596T>C (n.655+2596T>C)
c.1168-675T>C (n.1168-675T>C)
c.2512T>C (p.Leu838=)
c.2575T>C (p.Leu859=)
c.2563T>C (p.Leu855=)
COSMIC
2g.144398603A>TCA348707884ZEB2c.*2433T>A (n.*2433T>A)
c.1807T>A (p.Leu603Met)
c.2584T>A (p.Leu862Met)
n.2553T>A
c.2248T>A (p.Leu750Met)
c.2659T>A (p.Leu887Met)
c.*2301T>A (n.*2301T>A)
n.2684T>A
c.115T>A (p.Leu39Met)
c.2581T>A (p.Leu861Met)
c.655+2596T>A (n.655+2596T>A)
c.1168-675T>A (n.1168-675T>A)
c.2512T>A (p.Leu838Met)
c.2575T>A (p.Leu859Met)
c.2563T>A (p.Leu855Met)
gnomAD v4
2g.144398604G>ACA429445582ZEB2c.*2432C>T (n.*2432C>T)
c.1806C>T (p.Asn602=)
c.2583C>T (p.Asn861=)
n.2552C>T
c.2247C>T (p.Asn749=)
c.2658C>T (p.Asn886=)
c.*2300C>T (n.*2300C>T)
n.2683C>T
c.114C>T (p.Asn38=)
c.2580C>T (p.Asn860=)
c.655+2595C>T (n.655+2595C>T)
c.1168-676C>T (n.1168-676C>T)
c.2511C>T (p.Asn837=)
c.2574C>T (p.Asn858=)
c.2562C>T (p.Asn854=)
2g.144398604G>CCA348707886ZEB2c.*2432C>G (n.*2432C>G)
c.1806C>G (p.Asn602Lys)
c.2583C>G (p.Asn861Lys)
n.2552C>G
c.2247C>G (p.Asn749Lys)
c.2658C>G (p.Asn886Lys)
c.*2300C>G (n.*2300C>G)
n.2683C>G
c.114C>G (p.Asn38Lys)
c.2580C>G (p.Asn860Lys)
c.655+2595C>G (n.655+2595C>G)
c.1168-676C>G (n.1168-676C>G)
c.2511C>G (p.Asn837Lys)
c.2574C>G (p.Asn858Lys)
c.2562C>G (p.Asn854Lys)
2g.144398604G>TCA348707887ZEB2c.*2432C>A (n.*2432C>A)
c.1806C>A (p.Asn602Lys)
c.2583C>A (p.Asn861Lys)
n.2552C>A
c.2247C>A (p.Asn749Lys)
c.2658C>A (p.Asn886Lys)
c.*2300C>A (n.*2300C>A)
n.2683C>A
c.114C>A (p.Asn38Lys)
c.2580C>A (p.Asn860Lys)
c.655+2595C>A (n.655+2595C>A)
c.1168-676C>A (n.1168-676C>A)
c.2511C>A (p.Asn837Lys)
c.2574C>A (p.Asn858Lys)
c.2562C>A (p.Asn854Lys)
2g.144398605T>ACA348707890ZEB2c.*2431A>T (n.*2431A>T)
c.1805A>T (p.Asn602Ile)
c.2582A>T (p.Asn861Ile)
n.2551A>T
c.2246A>T (p.Asn749Ile)
c.2657A>T (p.Asn886Ile)
c.*2299A>T (n.*2299A>T)
n.2682A>T
c.113A>T (p.Asn38Ile)
c.2579A>T (p.Asn860Ile)
c.655+2594A>T (n.655+2594A>T)
c.1168-677A>T (n.1168-677A>T)
c.2510A>T (p.Asn837Ile)
c.2573A>T (p.Asn858Ile)
c.2561A>T (p.Asn854Ile)
2g.144398605T>CCA348707891ZEB2c.*2431A>G (n.*2431A>G)
c.1805A>G (p.Asn602Ser)
c.2582A>G (p.Asn861Ser)
n.2551A>G
c.2246A>G (p.Asn749Ser)
c.2657A>G (p.Asn886Ser)
c.*2299A>G (n.*2299A>G)
n.2682A>G
c.113A>G (p.Asn38Ser)
c.2579A>G (p.Asn860Ser)
c.655+2594A>G (n.655+2594A>G)
c.1168-677A>G (n.1168-677A>G)
c.2510A>G (p.Asn837Ser)
c.2573A>G (p.Asn858Ser)
c.2561A>G (p.Asn854Ser)
2g.144398605T>GCA348707892ZEB2c.*2431A>C (n.*2431A>C)
c.1805A>C (p.Asn602Thr)
c.2582A>C (p.Asn861Thr)
n.2551A>C
c.2246A>C (p.Asn749Thr)
c.2657A>C (p.Asn886Thr)
c.*2299A>C (n.*2299A>C)
n.2682A>C
c.113A>C (p.Asn38Thr)
c.2579A>C (p.Asn860Thr)
c.655+2594A>C (n.655+2594A>C)
c.1168-677A>C (n.1168-677A>C)
c.2510A>C (p.Asn837Thr)
c.2573A>C (p.Asn858Thr)
c.2561A>C (p.Asn854Thr)
2g.144398606T>ACA348707894ZEB2c.*2430A>T (n.*2430A>T)
c.1804A>T (p.Asn602Tyr)
c.2581A>T (p.Asn861Tyr)
n.2550A>T
c.2245A>T (p.Asn749Tyr)
c.2656A>T (p.Asn886Tyr)
c.*2298A>T (n.*2298A>T)
n.2681A>T
c.112A>T (p.Asn38Tyr)
c.2578A>T (p.Asn860Tyr)
c.655+2593A>T (n.655+2593A>T)
c.1168-678A>T (n.1168-678A>T)
c.2509A>T (p.Asn837Tyr)
c.2572A>T (p.Asn858Tyr)
c.2560A>T (p.Asn854Tyr)
2g.144398606T>CCA348707896ZEB2c.*2430A>G (n.*2430A>G)
c.1804A>G (p.Asn602Asp)
c.2581A>G (p.Asn861Asp)
n.2550A>G
c.2245A>G (p.Asn749Asp)
c.2656A>G (p.Asn886Asp)
c.*2298A>G (n.*2298A>G)
n.2681A>G
c.112A>G (p.Asn38Asp)
c.2578A>G (p.Asn860Asp)
c.655+2593A>G (n.655+2593A>G)
c.1168-678A>G (n.1168-678A>G)
c.2509A>G (p.Asn837Asp)
c.2572A>G (p.Asn858Asp)
c.2560A>G (p.Asn854Asp)
2g.144398606T>GCA348707898ZEB2c.*2430A>C (n.*2430A>C)
c.1804A>C (p.Asn602His)
c.2581A>C (p.Asn861His)
n.2550A>C
c.2245A>C (p.Asn749His)
c.2656A>C (p.Asn886His)
c.*2298A>C (n.*2298A>C)
n.2681A>C
c.112A>C (p.Asn38His)
c.2578A>C (p.Asn860His)
c.655+2593A>C (n.655+2593A>C)
c.1168-678A>C (n.1168-678A>C)
c.2509A>C (p.Asn837His)
c.2572A>C (p.Asn858His)
c.2560A>C (p.Asn854His)
2g.144398607C>ACA429445587ZEB2c.*2429G>T (n.*2429G>T)
c.1803G>T (p.Leu601=)
c.2580G>T (p.Leu860=)
n.2549G>T
c.2244G>T (p.Leu748=)
c.2655G>T (p.Leu885=)
c.*2297G>T (n.*2297G>T)
n.2680G>T
c.111G>T (p.Leu37=)
c.2577G>T (p.Leu859=)
c.655+2592G>T (n.655+2592G>T)
c.1168-679G>T (n.1168-679G>T)
c.2508G>T (p.Leu836=)
c.2571G>T (p.Leu857=)
c.2559G>T (p.Leu853=)
2g.144398607C=CA1294884962ZEB2c.*2429G= (n.*2429G=)
c.1803G= (p.Leu601=)
c.2580G= (p.Leu860=)
n.2549G=
c.2244G= (p.Leu748=)
c.2655G= (p.Leu885=)
c.*2297G= (n.*2297G=)
n.2680G=
c.111G= (p.Leu37=)
c.2577G= (p.Leu859=)
c.655+2592G= (n.655+2592G=)
c.1168-679G= (n.1168-679G=)
c.2508G= (p.Leu836=)
c.2571G= (p.Leu857=)
c.2559G= (p.Leu853=)
2g.144398607C>GCA429445585ZEB2c.*2429G>C (n.*2429G>C)
c.1803G>C (p.Leu601=)
c.2580G>C (p.Leu860=)
n.2549G>C
c.2244G>C (p.Leu748=)
c.2655G>C (p.Leu885=)
c.*2297G>C (n.*2297G>C)
n.2680G>C
c.111G>C (p.Leu37=)
c.2577G>C (p.Leu859=)
c.655+2592G>C (n.655+2592G>C)
c.1168-679G>C (n.1168-679G>C)
c.2508G>C (p.Leu836=)
c.2571G>C (p.Leu857=)
c.2559G>C (p.Leu853=)
2g.144398607C>TCA429445586ZEB2c.*2429G>A (n.*2429G>A)
c.1803G>A (p.Leu601=)
c.2580G>A (p.Leu860=)
n.2549G>A
c.2244G>A (p.Leu748=)
c.2655G>A (p.Leu885=)
c.*2297G>A (n.*2297G>A)
n.2680G>A
c.111G>A (p.Leu37=)
c.2577G>A (p.Leu859=)
c.655+2592G>A (n.655+2592G>A)
c.1168-679G>A (n.1168-679G>A)
c.2508G>A (p.Leu836=)
c.2571G>A (p.Leu857=)
c.2559G>A (p.Leu853=)
2g.144398608delCA2586970086ZEB2c.*2428del (n.*2428del)
c.1802del (p.Leu601ArgfsTer3)
c.2579del (p.Leu860ArgfsTer3)
n.2548del
c.2243del (p.Leu748ArgfsTer3)
c.2654del (p.Leu885ArgfsTer3)
c.*2296del (n.*2296del)
n.2679del
c.110del (p.Leu37ArgfsTer3)
c.2576del (p.Leu859ArgfsTer3)
c.655+2591del (n.655+2591del)
c.1168-680del (n.1168-680del)
c.2507del (p.Leu836ArgfsTer3)
c.2570del (p.Leu857ArgfsTer3)
c.2558del (p.Leu853ArgfsTer3)
2g.144398608A>CCA348707904ZEB2c.*2428T>G (n.*2428T>G)
c.1802T>G (p.Leu601Arg)
c.2579T>G (p.Leu860Arg)
n.2548T>G
c.2243T>G (p.Leu748Arg)
c.2654T>G (p.Leu885Arg)
c.*2296T>G (n.*2296T>G)
n.2679T>G
c.110T>G (p.Leu37Arg)
c.2576T>G (p.Leu859Arg)
c.655+2591T>G (n.655+2591T>G)
c.1168-680T>G (n.1168-680T>G)
c.2507T>G (p.Leu836Arg)
c.2570T>G (p.Leu857Arg)
c.2558T>G (p.Leu853Arg)
2g.144398608A>GCA348707902ZEB2c.*2428T>C (n.*2428T>C)
c.1802T>C (p.Leu601Pro)
c.2579T>C (p.Leu860Pro)
n.2548T>C
c.2243T>C (p.Leu748Pro)
c.2654T>C (p.Leu885Pro)
c.*2296T>C (n.*2296T>C)
n.2679T>C
c.110T>C (p.Leu37Pro)
c.2576T>C (p.Leu859Pro)
c.655+2591T>C (n.655+2591T>C)
c.1168-680T>C (n.1168-680T>C)
c.2507T>C (p.Leu836Pro)
c.2570T>C (p.Leu857Pro)
c.2558T>C (p.Leu853Pro)
2g.144398608A>TCA348707900ZEB2c.*2428T>A (n.*2428T>A)
c.1802T>A (p.Leu601Gln)
c.2579T>A (p.Leu860Gln)
n.2548T>A
c.2243T>A (p.Leu748Gln)
c.2654T>A (p.Leu885Gln)
c.*2296T>A (n.*2296T>A)
n.2679T>A
c.110T>A (p.Leu37Gln)
c.2576T>A (p.Leu859Gln)
c.655+2591T>A (n.655+2591T>A)
c.1168-680T>A (n.1168-680T>A)
c.2507T>A (p.Leu836Gln)
c.2570T>A (p.Leu857Gln)
c.2558T>A (p.Leu853Gln)
2g.144398610_144398611dupCA915942796ZEB2c.*2427_*2428dup (n.*2427_*2428dup)
c.1801_1802dup (p.Asn602Ter)
c.2578_2579dup (p.Asn861Ter)
n.2547_2548dup
c.2242_2243dup (p.Asn749Ter)
c.2653_2654dup (p.Asn886Ter)
c.*2295_*2296dup (n.*2295_*2296dup)
n.2678_2679dup
c.109_110dup (p.Asn38Ter)
c.2575_2576dup (p.Asn860Ter)
c.655+2590_655+2591dup (n.655+2590_655+2591dup)
c.1168-681_1168-680dup (n.1168-681_1168-680dup)
c.2506_2507dup (p.Asn837Ter)
c.2569_2570dup (p.Asn858Ter)
c.2557_2558dup (p.Asn854Ter)
ClinVar dbSNP
2g.144398609G>ACA429445590ZEB2c.*2427C>T (n.*2427C>T)
c.1801C>T (p.Leu601=)
c.2578C>T (p.Leu860=)
n.2547C>T
c.2242C>T (p.Leu748=)
c.2653C>T (p.Leu885=)
c.*2295C>T (n.*2295C>T)
n.2678C>T
c.109C>T (p.Leu37=)
c.2575C>T (p.Leu859=)
c.655+2590C>T (n.655+2590C>T)
c.1168-681C>T (n.1168-681C>T)
c.2506C>T (p.Leu836=)
c.2569C>T (p.Leu857=)
c.2557C>T (p.Leu853=)
gnomAD v4
2g.144398609G>CCA348707906ZEB2c.*2427C>G (n.*2427C>G)
c.1801C>G (p.Leu601Val)
c.2578C>G (p.Leu860Val)
n.2547C>G
c.2242C>G (p.Leu748Val)
c.2653C>G (p.Leu885Val)
c.*2295C>G (n.*2295C>G)
n.2678C>G
c.109C>G (p.Leu37Val)
c.2575C>G (p.Leu859Val)
c.655+2590C>G (n.655+2590C>G)
c.1168-681C>G (n.1168-681C>G)
c.2506C>G (p.Leu836Val)
c.2569C>G (p.Leu857Val)
c.2557C>G (p.Leu853Val)
gnomAD v4
2g.144398609G>TCA348707908ZEB2c.*2427C>A (n.*2427C>A)
c.1801C>A (p.Leu601Met)
c.2578C>A (p.Leu860Met)
n.2547C>A
c.2242C>A (p.Leu748Met)
c.2653C>A (p.Leu885Met)
c.*2295C>A (n.*2295C>A)
n.2678C>A
c.109C>A (p.Leu37Met)
c.2575C>A (p.Leu859Met)
c.655+2590C>A (n.655+2590C>A)
c.1168-681C>A (n.1168-681C>A)
c.2506C>A (p.Leu836Met)
c.2569C>A (p.Leu857Met)
c.2557C>A (p.Leu853Met)
2g.144398610A>CCA429445591ZEB2c.*2426T>G (n.*2426T>G)
c.1800T>G (p.Pro600=)
c.2577T>G (p.Pro859=)
n.2546T>G
c.2241T>G (p.Pro747=)
c.2652T>G (p.Pro884=)
c.*2294T>G (n.*2294T>G)
n.2677T>G
c.108T>G (p.Pro36=)
c.2574T>G (p.Pro858=)
c.655+2589T>G (n.655+2589T>G)
c.1168-682T>G (n.1168-682T>G)
c.2505T>G (p.Pro835=)
c.2568T>G (p.Pro856=)
c.2556T>G (p.Pro852=)
2g.144398610A>GCA429445593ZEB2c.*2426T>C (n.*2426T>C)
c.1800T>C (p.Pro600=)
c.2577T>C (p.Pro859=)
n.2546T>C
c.2241T>C (p.Pro747=)
c.2652T>C (p.Pro884=)
c.*2294T>C (n.*2294T>C)
n.2677T>C
c.108T>C (p.Pro36=)
c.2574T>C (p.Pro858=)
c.655+2589T>C (n.655+2589T>C)
c.1168-682T>C (n.1168-682T>C)
c.2505T>C (p.Pro835=)
c.2568T>C (p.Pro856=)
c.2556T>C (p.Pro852=)
2g.144398610A>TCA429445592ZEB2c.*2426T>A (n.*2426T>A)
c.1800T>A (p.Pro600=)
c.2577T>A (p.Pro859=)
n.2546T>A
c.2241T>A (p.Pro747=)
c.2652T>A (p.Pro884=)
c.*2294T>A (n.*2294T>A)
n.2677T>A
c.108T>A (p.Pro36=)
c.2574T>A (p.Pro858=)
c.655+2589T>A (n.655+2589T>A)
c.1168-682T>A (n.1168-682T>A)
c.2505T>A (p.Pro835=)
c.2568T>A (p.Pro856=)
c.2556T>A (p.Pro852=)
2g.144398610dupCA2580063843ZEB2c.*2426dup (n.*2426dup)
c.1800dup (p.Leu601SerfsTer15)
c.2577dup (p.Leu860SerfsTer15)
n.2546dup
c.2241dup (p.Leu748SerfsTer15)
c.2652dup (p.Leu885SerfsTer15)
c.*2294dup (n.*2294dup)
n.2677dup
c.108dup (p.Leu37SerfsTer15)
c.2574dup (p.Leu859SerfsTer15)
c.655+2589dup (n.655+2589dup)
c.1168-682dup (n.1168-682dup)
c.2505dup (p.Leu836SerfsTer15)
c.2568dup (p.Leu857SerfsTer15)
c.2556dup (p.Leu853SerfsTer15)
ClinVar
2g.144398611G>ACA348707911ZEB2c.*2425C>T (n.*2425C>T)
c.1799C>T (p.Pro600Leu)
c.2576C>T (p.Pro859Leu)
n.2545C>T
c.2240C>T (p.Pro747Leu)
c.2651C>T (p.Pro884Leu)
c.*2293C>T (n.*2293C>T)
n.2676C>T
c.107C>T (p.Pro36Leu)
c.2573C>T (p.Pro858Leu)
c.655+2588C>T (n.655+2588C>T)
c.1168-683C>T (n.1168-683C>T)
c.2504C>T (p.Pro835Leu)
c.2567C>T (p.Pro856Leu)
c.2555C>T (p.Pro852Leu)
2g.144398611G>CCA348707912ZEB2c.*2425C>G (n.*2425C>G)
c.1799C>G (p.Pro600Arg)
c.2576C>G (p.Pro859Arg)
n.2545C>G
c.2240C>G (p.Pro747Arg)
c.2651C>G (p.Pro884Arg)
c.*2293C>G (n.*2293C>G)
n.2676C>G
c.107C>G (p.Pro36Arg)
c.2573C>G (p.Pro858Arg)
c.655+2588C>G (n.655+2588C>G)
c.1168-683C>G (n.1168-683C>G)
c.2504C>G (p.Pro835Arg)
c.2567C>G (p.Pro856Arg)
c.2555C>G (p.Pro852Arg)
2g.144398611G>TCA348707914ZEB2c.*2425C>A (n.*2425C>A)
c.1799C>A (p.Pro600His)
c.2576C>A (p.Pro859His)
n.2545C>A
c.2240C>A (p.Pro747His)
c.2651C>A (p.Pro884His)
c.*2293C>A (n.*2293C>A)
n.2676C>A
c.107C>A (p.Pro36His)
c.2573C>A (p.Pro858His)
c.655+2588C>A (n.655+2588C>A)
c.1168-683C>A (n.1168-683C>A)
c.2504C>A (p.Pro835His)
c.2567C>A (p.Pro856His)
c.2555C>A (p.Pro852His)
2g.144398612G>ACA348707915ZEB2c.*2424C>T (n.*2424C>T)
c.1798C>T (p.Pro600Ser)
c.2575C>T (p.Pro859Ser)
n.2544C>T
c.2239C>T (p.Pro747Ser)
c.2650C>T (p.Pro884Ser)
c.*2292C>T (n.*2292C>T)
n.2675C>T
c.106C>T (p.Pro36Ser)
c.2572C>T (p.Pro858Ser)
c.655+2587C>T (n.655+2587C>T)
c.1168-684C>T (n.1168-684C>T)
c.2503C>T (p.Pro835Ser)
c.2566C>T (p.Pro856Ser)
c.2554C>T (p.Pro852Ser)
2g.144398612G>CCA348707917ZEB2c.*2424C>G (n.*2424C>G)
c.1798C>G (p.Pro600Ala)
c.2575C>G (p.Pro859Ala)
n.2544C>G
c.2239C>G (p.Pro747Ala)
c.2650C>G (p.Pro884Ala)
c.*2292C>G (n.*2292C>G)
n.2675C>G
c.106C>G (p.Pro36Ala)
c.2572C>G (p.Pro858Ala)
c.655+2587C>G (n.655+2587C>G)
c.1168-684C>G (n.1168-684C>G)
c.2503C>G (p.Pro835Ala)
c.2566C>G (p.Pro856Ala)
c.2554C>G (p.Pro852Ala)
2g.144398612G>TCA348707918ZEB2c.*2424C>A (n.*2424C>A)
c.1798C>A (p.Pro600Thr)
c.2575C>A (p.Pro859Thr)
n.2544C>A
c.2239C>A (p.Pro747Thr)
c.2650C>A (p.Pro884Thr)
c.*2292C>A (n.*2292C>A)
n.2675C>A
c.106C>A (p.Pro36Thr)
c.2572C>A (p.Pro858Thr)
c.655+2587C>A (n.655+2587C>A)
c.1168-684C>A (n.1168-684C>A)
c.2503C>A (p.Pro835Thr)
c.2566C>A (p.Pro856Thr)
c.2554C>A (p.Pro852Thr)
2g.144398613C>ACA348707921ZEB2c.*2423G>T (n.*2423G>T)
c.1797G>T (p.Glu599Asp)
c.2574G>T (p.Glu858Asp)
n.2543G>T
c.2238G>T (p.Glu746Asp)
c.2649G>T (p.Glu883Asp)
c.*2291G>T (n.*2291G>T)
n.2674G>T
c.105G>T (p.Glu35Asp)
c.2571G>T (p.Glu857Asp)
c.655+2586G>T (n.655+2586G>T)
c.1168-685G>T (n.1168-685G>T)
c.2502G>T (p.Glu834Asp)
c.2565G>T (p.Glu855Asp)
c.2553G>T (p.Glu851Asp)
2g.144398613C>GCA348707922ZEB2c.*2423G>C (n.*2423G>C)
c.1797G>C (p.Glu599Asp)
c.2574G>C (p.Glu858Asp)
n.2543G>C
c.2238G>C (p.Glu746Asp)
c.2649G>C (p.Glu883Asp)
c.*2291G>C (n.*2291G>C)
n.2674G>C
c.105G>C (p.Glu35Asp)
c.2571G>C (p.Glu857Asp)
c.655+2586G>C (n.655+2586G>C)
c.1168-685G>C (n.1168-685G>C)
c.2502G>C (p.Glu834Asp)
c.2565G>C (p.Glu855Asp)
c.2553G>C (p.Glu851Asp)
2g.144398613C>TCA429445599ZEB2c.*2423G>A (n.*2423G>A)
c.1797G>A (p.Glu599=)
c.2574G>A (p.Glu858=)
n.2543G>A
c.2238G>A (p.Glu746=)
c.2649G>A (p.Glu883=)
c.*2291G>A (n.*2291G>A)
n.2674G>A
c.105G>A (p.Glu35=)
c.2571G>A (p.Glu857=)
c.655+2586G>A (n.655+2586G>A)
c.1168-685G>A (n.1168-685G>A)
c.2502G>A (p.Glu834=)
c.2565G>A (p.Glu855=)
c.2553G>A (p.Glu851=)
gnomAD v4
2g.144398614T>ACA348707925ZEB2c.*2422A>T (n.*2422A>T)
c.1796A>T (p.Glu599Val)
c.2573A>T (p.Glu858Val)
n.2542A>T
c.2237A>T (p.Glu746Val)
c.2648A>T (p.Glu883Val)
c.*2290A>T (n.*2290A>T)
n.2673A>T
c.104A>T (p.Glu35Val)
c.2570A>T (p.Glu857Val)
c.655+2585A>T (n.655+2585A>T)
c.1168-686A>T (n.1168-686A>T)
c.2501A>T (p.Glu834Val)
c.2564A>T (p.Glu855Val)
c.2552A>T (p.Glu851Val)
2g.144398614T>CCA348707926ZEB2c.*2422A>G (n.*2422A>G)
c.1796A>G (p.Glu599Gly)
c.2573A>G (p.Glu858Gly)
n.2542A>G
c.2237A>G (p.Glu746Gly)
c.2648A>G (p.Glu883Gly)
c.*2290A>G (n.*2290A>G)
n.2673A>G
c.104A>G (p.Glu35Gly)
c.2570A>G (p.Glu857Gly)
c.655+2585A>G (n.655+2585A>G)
c.1168-686A>G (n.1168-686A>G)
c.2501A>G (p.Glu834Gly)
c.2564A>G (p.Glu855Gly)
c.2552A>G (p.Glu851Gly)
2g.144398614T>GCA348707928ZEB2c.*2422A>C (n.*2422A>C)
c.1796A>C (p.Glu599Ala)
c.2573A>C (p.Glu858Ala)
n.2542A>C
c.2237A>C (p.Glu746Ala)
c.2648A>C (p.Glu883Ala)
c.*2290A>C (n.*2290A>C)
n.2673A>C
c.104A>C (p.Glu35Ala)
c.2570A>C (p.Glu857Ala)
c.655+2585A>C (n.655+2585A>C)
c.1168-686A>C (n.1168-686A>C)
c.2501A>C (p.Glu834Ala)
c.2564A>C (p.Glu855Ala)
c.2552A>C (p.Glu851Ala)
2g.144398615C>ACA348707933ZEB2c.*2421G>T (n.*2421G>T)
c.1795G>T (p.Glu599Ter)
c.2572G>T (p.Glu858Ter)
n.2541G>T
c.2236G>T (p.Glu746Ter)
c.2647G>T (p.Glu883Ter)
c.*2289G>T (n.*2289G>T)
n.2672G>T
c.103G>T (p.Glu35Ter)
c.2569G>T (p.Glu857Ter)
c.655+2584G>T (n.655+2584G>T)
c.1168-687G>T (n.1168-687G>T)
c.2500G>T (p.Glu834Ter)
c.2563G>T (p.Glu855Ter)
c.2551G>T (p.Glu851Ter)
2g.144398615C>GCA348707934ZEB2c.*2421G>C (n.*2421G>C)
c.1795G>C (p.Glu599Gln)
c.2572G>C (p.Glu858Gln)
n.2541G>C
c.2236G>C (p.Glu746Gln)
c.2647G>C (p.Glu883Gln)
c.*2289G>C (n.*2289G>C)
n.2672G>C
c.103G>C (p.Glu35Gln)
c.2569G>C (p.Glu857Gln)
c.655+2584G>C (n.655+2584G>C)
c.1168-687G>C (n.1168-687G>C)
c.2500G>C (p.Glu834Gln)
c.2563G>C (p.Glu855Gln)
c.2551G>C (p.Glu851Gln)
2g.144398615C>TCA348707931ZEB2c.*2421G>A (n.*2421G>A)
c.1795G>A (p.Glu599Lys)
c.2572G>A (p.Glu858Lys)
n.2541G>A
c.2236G>A (p.Glu746Lys)
c.2647G>A (p.Glu883Lys)
c.*2289G>A (n.*2289G>A)
n.2672G>A
c.103G>A (p.Glu35Lys)
c.2569G>A (p.Glu857Lys)
c.655+2584G>A (n.655+2584G>A)
c.1168-687G>A (n.1168-687G>A)
c.2500G>A (p.Glu834Lys)
c.2563G>A (p.Glu855Lys)
c.2551G>A (p.Glu851Lys)
gnomAD v4
2g.144398616A=CA1294884963ZEB2c.*2420T= (n.*2420T=)
c.1794T= (p.Asp598=)
c.2571T= (p.Asp857=)
n.2540T=
c.2235T= (p.Asp745=)
c.2646T= (p.Asp882=)
c.*2288T= (n.*2288T=)
n.2671T=
c.102T= (p.Asp34=)
c.2568T= (p.Asp856=)
c.655+2583T= (n.655+2583T=)
c.1168-688T= (n.1168-688T=)
c.2499T= (p.Asp833=)
c.2562T= (p.Asp854=)
c.2550T= (p.Asp850=)
2g.144398616A>CCA348707936ZEB2c.*2420T>G (n.*2420T>G)
c.1794T>G (p.Asp598Glu)
c.2571T>G (p.Asp857Glu)
n.2540T>G
c.2235T>G (p.Asp745Glu)
c.2646T>G (p.Asp882Glu)
c.*2288T>G (n.*2288T>G)
n.2671T>G
c.102T>G (p.Asp34Glu)
c.2568T>G (p.Asp856Glu)
c.655+2583T>G (n.655+2583T>G)
c.1168-688T>G (n.1168-688T>G)
c.2499T>G (p.Asp833Glu)
c.2562T>G (p.Asp854Glu)
c.2550T>G (p.Asp850Glu)
dbSNP gnomAD v2 gnomAD v4
2g.144398616A>GCA429445605ZEB2c.*2420T>C (n.*2420T>C)
c.1794T>C (p.Asp598=)
c.2571T>C (p.Asp857=)
n.2540T>C
c.2235T>C (p.Asp745=)
c.2646T>C (p.Asp882=)
c.*2288T>C (n.*2288T>C)
n.2671T>C
c.102T>C (p.Asp34=)
c.2568T>C (p.Asp856=)
c.655+2583T>C (n.655+2583T>C)
c.1168-688T>C (n.1168-688T>C)
c.2499T>C (p.Asp833=)
c.2562T>C (p.Asp854=)
c.2550T>C (p.Asp850=)
2g.144398616A>TCA348707937ZEB2c.*2420T>A (n.*2420T>A)
c.1794T>A (p.Asp598Glu)
c.2571T>A (p.Asp857Glu)
n.2540T>A
c.2235T>A (p.Asp745Glu)
c.2646T>A (p.Asp882Glu)
c.*2288T>A (n.*2288T>A)
n.2671T>A
c.102T>A (p.Asp34Glu)
c.2568T>A (p.Asp856Glu)
c.655+2583T>A (n.655+2583T>A)
c.1168-688T>A (n.1168-688T>A)
c.2499T>A (p.Asp833Glu)
c.2562T>A (p.Asp854Glu)
c.2550T>A (p.Asp850Glu)
2g.144398617T>ACA348707939ZEB2c.*2419A>T (n.*2419A>T)
c.1793A>T (p.Asp598Val)
c.2570A>T (p.Asp857Val)
n.2539A>T
c.2234A>T (p.Asp745Val)
c.2645A>T (p.Asp882Val)
c.*2287A>T (n.*2287A>T)
n.2670A>T
c.101A>T (p.Asp34Val)
c.2567A>T (p.Asp856Val)
c.655+2582A>T (n.655+2582A>T)
c.1168-689A>T (n.1168-689A>T)
c.2498A>T (p.Asp833Val)
c.2561A>T (p.Asp854Val)
c.2549A>T (p.Asp850Val)
dbSNP COSMIC
2g.144398617T>CCA348707941ZEB2c.*2419A>G (n.*2419A>G)
c.1793A>G (p.Asp598Gly)
c.2570A>G (p.Asp857Gly)
n.2539A>G
c.2234A>G (p.Asp745Gly)
c.2645A>G (p.Asp882Gly)
c.*2287A>G (n.*2287A>G)
n.2670A>G
c.101A>G (p.Asp34Gly)
c.2567A>G (p.Asp856Gly)
c.655+2582A>G (n.655+2582A>G)
c.1168-689A>G (n.1168-689A>G)
c.2498A>G (p.Asp833Gly)
c.2561A>G (p.Asp854Gly)
c.2549A>G (p.Asp850Gly)
gnomAD v4
2g.144398617T>GCA348707942ZEB2c.*2419A>C (n.*2419A>C)
c.1793A>C (p.Asp598Ala)
c.2570A>C (p.Asp857Ala)
n.2539A>C
c.2234A>C (p.Asp745Ala)
c.2645A>C (p.Asp882Ala)
c.*2287A>C (n.*2287A>C)
n.2670A>C
c.101A>C (p.Asp34Ala)
c.2567A>C (p.Asp856Ala)
c.655+2582A>C (n.655+2582A>C)
c.1168-689A>C (n.1168-689A>C)
c.2498A>C (p.Asp833Ala)
c.2561A>C (p.Asp854Ala)
c.2549A>C (p.Asp850Ala)
2g.144398617T=CA1294884964ZEB2c.*2419A= (n.*2419A=)
c.1793A= (p.Asp598=)
c.2570A= (p.Asp857=)
n.2539A=
c.2234A= (p.Asp745=)
c.2645A= (p.Asp882=)
c.*2287A= (n.*2287A=)
n.2670A=
c.101A= (p.Asp34=)
c.2567A= (p.Asp856=)
c.655+2582A= (n.655+2582A=)
c.1168-689A= (n.1168-689A=)
c.2498A= (p.Asp833=)
c.2561A= (p.Asp854=)
c.2549A= (p.Asp850=)
2g.144398618C>ACA348707943ZEB2c.*2418G>T (n.*2418G>T)
c.1792G>T (p.Asp598Tyr)
c.2569G>T (p.Asp857Tyr)
n.2538G>T
c.2233G>T (p.Asp745Tyr)
c.2644G>T (p.Asp882Tyr)
c.*2286G>T (n.*2286G>T)
n.2669G>T
c.100G>T (p.Asp34Tyr)
c.2566G>T (p.Asp856Tyr)
c.655+2581G>T (n.655+2581G>T)
c.1168-690G>T (n.1168-690G>T)
c.2497G>T (p.Asp833Tyr)
c.2560G>T (p.Asp854Tyr)
c.2548G>T (p.Asp850Tyr)
2g.144398618C>GCA348707944ZEB2c.*2418G>C (n.*2418G>C)
c.1792G>C (p.Asp598His)
c.2569G>C (p.Asp857His)
n.2538G>C
c.2233G>C (p.Asp745His)
c.2644G>C (p.Asp882His)
c.*2286G>C (n.*2286G>C)
n.2669G>C
c.100G>C (p.Asp34His)
c.2566G>C (p.Asp856His)
c.655+2581G>C (n.655+2581G>C)
c.1168-690G>C (n.1168-690G>C)
c.2497G>C (p.Asp833His)
c.2560G>C (p.Asp854His)
c.2548G>C (p.Asp850His)
2g.144398618C>TCA348707945ZEB2c.*2418G>A (n.*2418G>A)
c.1792G>A (p.Asp598Asn)
c.2569G>A (p.Asp857Asn)
n.2538G>A
c.2233G>A (p.Asp745Asn)
c.2644G>A (p.Asp882Asn)
c.*2286G>A (n.*2286G>A)
n.2669G>A
c.100G>A (p.Asp34Asn)
c.2566G>A (p.Asp856Asn)
c.655+2581G>A (n.655+2581G>A)
c.1168-690G>A (n.1168-690G>A)
c.2497G>A (p.Asp833Asn)
c.2560G>A (p.Asp854Asn)
c.2548G>A (p.Asp850Asn)
2g.144398619T>ACA429445609ZEB2c.*2417A>T (n.*2417A>T)
c.1791A>T (p.Ser597=)
c.2568A>T (p.Ser856=)
n.2537A>T
c.2232A>T (p.Ser744=)
c.2643A>T (p.Ser881=)
c.*2285A>T (n.*2285A>T)
n.2668A>T
c.99A>T (p.Ser33=)
c.2565A>T (p.Ser855=)
c.655+2580A>T (n.655+2580A>T)
c.1168-691A>T (n.1168-691A>T)
c.2496A>T (p.Ser832=)
c.2559A>T (p.Ser853=)
c.2547A>T (p.Ser849=)
2g.144398619T>CCA429445611ZEB2c.*2417A>G (n.*2417A>G)
c.1791A>G (p.Ser597=)
c.2568A>G (p.Ser856=)
n.2537A>G
c.2232A>G (p.Ser744=)
c.2643A>G (p.Ser881=)
c.*2285A>G (n.*2285A>G)
n.2668A>G
c.99A>G (p.Ser33=)
c.2565A>G (p.Ser855=)
c.655+2580A>G (n.655+2580A>G)
c.1168-691A>G (n.1168-691A>G)
c.2496A>G (p.Ser832=)
c.2559A>G (p.Ser853=)
c.2547A>G (p.Ser849=)
2g.144398619T>GCA429445612ZEB2c.*2417A>C (n.*2417A>C)
c.1791A>C (p.Ser597=)
c.2568A>C (p.Ser856=)
n.2537A>C
c.2232A>C (p.Ser744=)
c.2643A>C (p.Ser881=)
c.*2285A>C (n.*2285A>C)
n.2668A>C
c.99A>C (p.Ser33=)
c.2565A>C (p.Ser855=)
c.655+2580A>C (n.655+2580A>C)
c.1168-691A>C (n.1168-691A>C)
c.2496A>C (p.Ser832=)
c.2559A>C (p.Ser853=)
c.2547A>C (p.Ser849=)
2g.144398620G>ACA348707947ZEB2c.*2416C>T (n.*2416C>T)
c.1790C>T (p.Ser597Leu)
c.2567C>T (p.Ser856Leu)
n.2536C>T
c.2231C>T (p.Ser744Leu)
c.2642C>T (p.Ser881Leu)
c.*2284C>T (n.*2284C>T)
n.2667C>T
c.98C>T (p.Ser33Leu)
c.2564C>T (p.Ser855Leu)
c.655+2579C>T (n.655+2579C>T)
c.1168-692C>T (n.1168-692C>T)
c.2495C>T (p.Ser832Leu)
c.2558C>T (p.Ser853Leu)
c.2546C>T (p.Ser849Leu)
2g.144398620G>CCA348707949ZEB2c.*2416C>G (n.*2416C>G)
c.1790C>G (p.Ser597Ter)
c.2567C>G (p.Ser856Ter)
n.2536C>G
c.2231C>G (p.Ser744Ter)
c.2642C>G (p.Ser881Ter)
c.*2284C>G (n.*2284C>G)
n.2667C>G
c.98C>G (p.Ser33Ter)
c.2564C>G (p.Ser855Ter)
c.655+2579C>G (n.655+2579C>G)
c.1168-692C>G (n.1168-692C>G)
c.2495C>G (p.Ser832Ter)
c.2558C>G (p.Ser853Ter)
c.2546C>G (p.Ser849Ter)
2g.144398620G>TCA348707951ZEB2c.*2416C>A (n.*2416C>A)
c.1790C>A (p.Ser597Ter)
c.2567C>A (p.Ser856Ter)
n.2536C>A
c.2231C>A (p.Ser744Ter)
c.2642C>A (p.Ser881Ter)
c.*2284C>A (n.*2284C>A)
n.2667C>A
c.98C>A (p.Ser33Ter)
c.2564C>A (p.Ser855Ter)
c.655+2579C>A (n.655+2579C>A)
c.1168-692C>A (n.1168-692C>A)
c.2495C>A (p.Ser832Ter)
c.2558C>A (p.Ser853Ter)
c.2546C>A (p.Ser849Ter)
2g.144398621A>CCA348707957ZEB2c.*2415T>G (n.*2415T>G)
c.1789T>G (p.Ser597Ala)
c.2566T>G (p.Ser856Ala)
n.2535T>G
c.2230T>G (p.Ser744Ala)
c.2641T>G (p.Ser881Ala)
c.*2283T>G (n.*2283T>G)
n.2666T>G
c.97T>G (p.Ser33Ala)
c.2563T>G (p.Ser855Ala)
c.655+2578T>G (n.655+2578T>G)
c.1168-693T>G (n.1168-693T>G)
c.2494T>G (p.Ser832Ala)
c.2557T>G (p.Ser853Ala)
c.2545T>G (p.Ser849Ala)
2g.144398621A>GCA348707955ZEB2c.*2415T>C (n.*2415T>C)
c.1789T>C (p.Ser597Pro)
c.2566T>C (p.Ser856Pro)
n.2535T>C
c.2230T>C (p.Ser744Pro)
c.2641T>C (p.Ser881Pro)
c.*2283T>C (n.*2283T>C)
n.2666T>C
c.97T>C (p.Ser33Pro)
c.2563T>C (p.Ser855Pro)
c.655+2578T>C (n.655+2578T>C)
c.1168-693T>C (n.1168-693T>C)
c.2494T>C (p.Ser832Pro)
c.2557T>C (p.Ser853Pro)
c.2545T>C (p.Ser849Pro)
2g.144398621A>TCA348707953ZEB2c.*2415T>A (n.*2415T>A)
c.1789T>A (p.Ser597Thr)
c.2566T>A (p.Ser856Thr)
n.2535T>A
c.2230T>A (p.Ser744Thr)
c.2641T>A (p.Ser881Thr)
c.*2283T>A (n.*2283T>A)
n.2666T>A
c.97T>A (p.Ser33Thr)
c.2563T>A (p.Ser855Thr)
c.655+2578T>A (n.655+2578T>A)
c.1168-693T>A (n.1168-693T>A)
c.2494T>A (p.Ser832Thr)
c.2557T>A (p.Ser853Thr)
c.2545T>A (p.Ser849Thr)
2g.144398622G>ACA429445618ZEB2c.*2414C>T (n.*2414C>T)
c.1788C>T (p.Asn596=)
c.2565C>T (p.Asn855=)
n.2534C>T
c.2229C>T (p.Asn743=)
c.2640C>T (p.Asn880=)
c.*2282C>T (n.*2282C>T)
n.2665C>T
c.96C>T (p.Asn32=)
c.2562C>T (p.Asn854=)
c.655+2577C>T (n.655+2577C>T)
c.1168-694C>T (n.1168-694C>T)
c.2493C>T (p.Asn831=)
c.2556C>T (p.Asn852=)
c.2544C>T (p.Asn848=)
gnomAD v4
2g.144398622G>CCA57554960ZEB2c.*2414C>G (n.*2414C>G)
c.1788C>G (p.Asn596Lys)
c.2565C>G (p.Asn855Lys)
n.2534C>G
c.2229C>G (p.Asn743Lys)
c.2640C>G (p.Asn880Lys)
c.*2282C>G (n.*2282C>G)
n.2665C>G
c.96C>G (p.Asn32Lys)
c.2562C>G (p.Asn854Lys)
c.655+2577C>G (n.655+2577C>G)
c.1168-694C>G (n.1168-694C>G)
c.2493C>G (p.Asn831Lys)
c.2556C>G (p.Asn852Lys)
c.2544C>G (p.Asn848Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398622G=CA1294884965ZEB2c.*2414C= (n.*2414C=)
c.1788C= (p.Asn596=)
c.2565C= (p.Asn855=)
n.2534C=
c.2229C= (p.Asn743=)
c.2640C= (p.Asn880=)
c.*2282C= (n.*2282C=)
n.2665C=
c.96C= (p.Asn32=)
c.2562C= (p.Asn854=)
c.655+2577C= (n.655+2577C=)
c.1168-694C= (n.1168-694C=)
c.2493C= (p.Asn831=)
c.2556C= (p.Asn852=)
c.2544C= (p.Asn848=)
2g.144398622G>TCA348707960ZEB2c.*2414C>A (n.*2414C>A)
c.1788C>A (p.Asn596Lys)
c.2565C>A (p.Asn855Lys)
n.2534C>A
c.2229C>A (p.Asn743Lys)
c.2640C>A (p.Asn880Lys)
c.*2282C>A (n.*2282C>A)
n.2665C>A
c.96C>A (p.Asn32Lys)
c.2562C>A (p.Asn854Lys)
c.655+2577C>A (n.655+2577C>A)
c.1168-694C>A (n.1168-694C>A)
c.2493C>A (p.Asn831Lys)
c.2556C>A (p.Asn852Lys)
c.2544C>A (p.Asn848Lys)
2g.144398622_144398625delCA2661333311ZEB2c.*2411_*2414del (n.*2411_*2414del)
c.1785_1788del (p.Glu595AspfsTer6)
c.2562_2565del (p.Glu854AspfsTer6)
n.2531_2534del
c.2226_2229del (p.Glu742AspfsTer6)
c.2637_2640del (p.Glu879AspfsTer6)
c.*2279_*2282del (n.*2279_*2282del)
n.2662_2665del
c.93_96del (p.Glu31AspfsTer6)
c.2559_2562del (p.Glu853AspfsTer6)
c.655+2574_655+2577del (n.655+2574_655+2577del)
c.1168-697_1168-694del (n.1168-697_1168-694del)
c.2490_2493del (p.Glu830AspfsTer6)
c.2553_2556del (p.Glu851AspfsTer6)
c.2541_2544del (p.Glu847AspfsTer6)
gnomAD v4

Number of alleles fetched