UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144396475_144396483delinsCACATGCAT | CA1294884078 | ZEB2 | c.*2845_*2853delinsATGCATGTG (n.*2845_*2853delinsATGCATGTG) c.2219_2227delinsATGCATGTG (p.Tyr740=) c.2996_3004delinsATGCATGTG (p.Tyr999=) n.2965_2973delinsATGCATGTG c.2660_2668delinsATGCATGTG (p.Tyr887=) c.3071_3079delinsATGCATGTG (p.Tyr1024=) c.*2713_*2721delinsATGCATGTG (n.*2713_*2721delinsATGCATGTG) n.3096_3104delinsATGCATGTG c.80_88delinsATGCATGTG (p.Tyr27=) c.128_136delinsATGCATGTG (p.Tyr43=) c.527_535delinsATGCATGTG (p.Tyr176=) c.2993_3001delinsATGCATGTG (p.Tyr998=) c.655+4716_655+4724delinsATGCATGTG (n.655+4716_655+4724delinsATGCATGTG) c.2924_2932delinsATGCATGTG (p.Tyr975=) c.2987_2995delinsATGCATGTG (p.Tyr996=) c.2975_2983delinsATGCATGTG (p.Tyr992=) | |
| 2 | g.144396482_144396489del | CA915942795 | ZEB2 | c.*2845_*2852del (n.*2845_*2852del) c.2219_2226del (p.Tyr740Ter) c.2996_3003del (p.Tyr999Ter) n.2965_2972del c.2660_2667del (p.Tyr887Ter) c.3071_3078del (p.Tyr1024Ter) c.*2713_*2720del (n.*2713_*2720del) n.3096_3103del c.80_87del (p.Tyr27Ter) c.128_135del (p.Tyr43Ter) c.527_534del (p.Tyr176Ter) c.2993_3000del (p.Tyr998Ter) c.655+4716_655+4723del (n.655+4716_655+4723del) c.2924_2931del (p.Tyr975Ter) c.2987_2994del (p.Tyr996Ter) c.2975_2982del (p.Tyr992Ter) | ClinVar dbSNP |
| 2 | g.144396483T>A | CA348704066 | ZEB2 | c.*2845A>T (n.*2845A>T) c.2219A>T (p.Tyr740Phe) c.2996A>T (p.Tyr999Phe) n.2965A>T c.2660A>T (p.Tyr887Phe) c.3071A>T (p.Tyr1024Phe) c.*2713A>T (n.*2713A>T) n.3096A>T c.80A>T (p.Tyr27Phe) c.128A>T (p.Tyr43Phe) c.527A>T (p.Tyr176Phe) c.2993A>T (p.Tyr998Phe) c.655+4716A>T (n.655+4716A>T) c.2924A>T (p.Tyr975Phe) c.2987A>T (p.Tyr996Phe) c.2975A>T (p.Tyr992Phe) | gnomAD v4 |
| 2 | g.144396483T>C | CA348704068 | ZEB2 | c.*2845A>G (n.*2845A>G) c.2219A>G (p.Tyr740Cys) c.2996A>G (p.Tyr999Cys) n.2965A>G c.2660A>G (p.Tyr887Cys) c.3071A>G (p.Tyr1024Cys) c.*2713A>G (n.*2713A>G) n.3096A>G c.80A>G (p.Tyr27Cys) c.128A>G (p.Tyr43Cys) c.527A>G (p.Tyr176Cys) c.2993A>G (p.Tyr998Cys) c.655+4716A>G (n.655+4716A>G) c.2924A>G (p.Tyr975Cys) c.2987A>G (p.Tyr996Cys) c.2975A>G (p.Tyr992Cys) | |
| 2 | g.144396483T>G | CA348704067 | ZEB2 | c.*2845A>C (n.*2845A>C) c.2219A>C (p.Tyr740Ser) c.2996A>C (p.Tyr999Ser) n.2965A>C c.2660A>C (p.Tyr887Ser) c.3071A>C (p.Tyr1024Ser) c.*2713A>C (n.*2713A>C) n.3096A>C c.80A>C (p.Tyr27Ser) c.128A>C (p.Tyr43Ser) c.527A>C (p.Tyr176Ser) c.2993A>C (p.Tyr998Ser) c.655+4716A>C (n.655+4716A>C) c.2924A>C (p.Tyr975Ser) c.2987A>C (p.Tyr996Ser) c.2975A>C (p.Tyr992Ser) | |
| 2 | g.144396484A>C | CA348704071 | ZEB2 | c.*2844T>G (n.*2844T>G) c.2218T>G (p.Tyr740Asp) c.2995T>G (p.Tyr999Asp) n.2964T>G c.2659T>G (p.Tyr887Asp) c.3070T>G (p.Tyr1024Asp) c.*2712T>G (n.*2712T>G) n.3095T>G c.79T>G (p.Tyr27Asp) c.127T>G (p.Tyr43Asp) c.526T>G (p.Tyr176Asp) c.2992T>G (p.Tyr998Asp) c.655+4715T>G (n.655+4715T>G) c.2923T>G (p.Tyr975Asp) c.2986T>G (p.Tyr996Asp) c.2974T>G (p.Tyr992Asp) | |
| 2 | g.144396484A>G | CA348704074 | ZEB2 | c.*2844T>C (n.*2844T>C) c.2218T>C (p.Tyr740His) c.2995T>C (p.Tyr999His) n.2964T>C c.2659T>C (p.Tyr887His) c.3070T>C (p.Tyr1024His) c.*2712T>C (n.*2712T>C) n.3095T>C c.79T>C (p.Tyr27His) c.127T>C (p.Tyr43His) c.526T>C (p.Tyr176His) c.2992T>C (p.Tyr998His) c.655+4715T>C (n.655+4715T>C) c.2923T>C (p.Tyr975His) c.2986T>C (p.Tyr996His) c.2974T>C (p.Tyr992His) | gnomAD v4 |
| 2 | g.144396484A>T | CA348704076 | ZEB2 | c.*2844T>A (n.*2844T>A) c.2218T>A (p.Tyr740Asn) c.2995T>A (p.Tyr999Asn) n.2964T>A c.2659T>A (p.Tyr887Asn) c.3070T>A (p.Tyr1024Asn) c.*2712T>A (n.*2712T>A) n.3095T>A c.79T>A (p.Tyr27Asn) c.127T>A (p.Tyr43Asn) c.526T>A (p.Tyr176Asn) c.2992T>A (p.Tyr998Asn) c.655+4715T>A (n.655+4715T>A) c.2923T>A (p.Tyr975Asn) c.2986T>A (p.Tyr996Asn) c.2974T>A (p.Tyr992Asn) | |
| 2 | g.144396485C>A | CA348704082 | ZEB2 | c.*2843G>T (n.*2843G>T) c.2217G>T (p.Met739Ile) c.2994G>T (p.Met998Ile) n.2963G>T c.2658G>T (p.Met886Ile) c.3069G>T (p.Met1023Ile) c.*2711G>T (n.*2711G>T) n.3094G>T c.78G>T (p.Met26Ile) c.126G>T (p.Met42Ile) c.525G>T (p.Met175Ile) c.2991G>T (p.Met997Ile) c.655+4714G>T (n.655+4714G>T) c.2922G>T (p.Met974Ile) c.2985G>T (p.Met995Ile) c.2973G>T (p.Met991Ile) | |
| 2 | g.144396485C>G | CA348704083 | ZEB2 | c.*2843G>C (n.*2843G>C) c.2217G>C (p.Met739Ile) c.2994G>C (p.Met998Ile) n.2963G>C c.2658G>C (p.Met886Ile) c.3069G>C (p.Met1023Ile) c.*2711G>C (n.*2711G>C) n.3094G>C c.78G>C (p.Met26Ile) c.126G>C (p.Met42Ile) c.525G>C (p.Met175Ile) c.2991G>C (p.Met997Ile) c.655+4714G>C (n.655+4714G>C) c.2922G>C (p.Met974Ile) c.2985G>C (p.Met995Ile) c.2973G>C (p.Met991Ile) | |
| 2 | g.144396485C>T | CA348704087 | ZEB2 | c.*2843G>A (n.*2843G>A) c.2217G>A (p.Met739Ile) c.2994G>A (p.Met998Ile) n.2963G>A c.2658G>A (p.Met886Ile) c.3069G>A (p.Met1023Ile) c.*2711G>A (n.*2711G>A) n.3094G>A c.78G>A (p.Met26Ile) c.126G>A (p.Met42Ile) c.525G>A (p.Met175Ile) c.2991G>A (p.Met997Ile) c.655+4714G>A (n.655+4714G>A) c.2922G>A (p.Met974Ile) c.2985G>A (p.Met995Ile) c.2973G>A (p.Met991Ile) | |
| 2 | g.144396486A= | CA1294884081 | ZEB2 | c.*2842T= (n.*2842T=) c.2216T= (p.Met739=) c.2993T= (p.Met998=) n.2962T= c.2657T= (p.Met886=) c.3068T= (p.Met1023=) c.*2710T= (n.*2710T=) n.3093T= c.77T= (p.Met26=) c.125T= (p.Met42=) c.524T= (p.Met175=) c.2990T= (p.Met997=) c.655+4713T= (n.655+4713T=) c.2921T= (p.Met974=) c.2984T= (p.Met995=) c.2972T= (p.Met991=) | |
| 2 | g.144396486A>C | CA348704091 | ZEB2 | c.*2842T>G (n.*2842T>G) c.2216T>G (p.Met739Arg) c.2993T>G (p.Met998Arg) n.2962T>G c.2657T>G (p.Met886Arg) c.3068T>G (p.Met1023Arg) c.*2710T>G (n.*2710T>G) n.3093T>G c.77T>G (p.Met26Arg) c.125T>G (p.Met42Arg) c.524T>G (p.Met175Arg) c.2990T>G (p.Met997Arg) c.655+4713T>G (n.655+4713T>G) c.2921T>G (p.Met974Arg) c.2984T>G (p.Met995Arg) c.2972T>G (p.Met991Arg) | gnomAD v4 |
| 2 | g.144396486A>G | CA1898164 | ZEB2 | c.*2842T>C (n.*2842T>C) c.2216T>C (p.Met739Thr) c.2993T>C (p.Met998Thr) n.2962T>C c.2657T>C (p.Met886Thr) c.3068T>C (p.Met1023Thr) c.*2710T>C (n.*2710T>C) n.3093T>C c.77T>C (p.Met26Thr) c.125T>C (p.Met42Thr) c.524T>C (p.Met175Thr) c.2990T>C (p.Met997Thr) c.655+4713T>C (n.655+4713T>C) c.2921T>C (p.Met974Thr) c.2984T>C (p.Met995Thr) c.2972T>C (p.Met991Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144396486A>T | CA348704092 | ZEB2 | c.*2842T>A (n.*2842T>A) c.2216T>A (p.Met739Lys) c.2993T>A (p.Met998Lys) n.2962T>A c.2657T>A (p.Met886Lys) c.3068T>A (p.Met1023Lys) c.*2710T>A (n.*2710T>A) n.3093T>A c.77T>A (p.Met26Lys) c.125T>A (p.Met42Lys) c.524T>A (p.Met175Lys) c.2990T>A (p.Met997Lys) c.655+4713T>A (n.655+4713T>A) c.2921T>A (p.Met974Lys) c.2984T>A (p.Met995Lys) c.2972T>A (p.Met991Lys) | |
| 2 | g.144396487T>A | CA348704094 | ZEB2 | c.*2841A>T (n.*2841A>T) c.2215A>T (p.Met739Leu) c.2992A>T (p.Met998Leu) n.2961A>T c.2656A>T (p.Met886Leu) c.3067A>T (p.Met1023Leu) c.*2709A>T (n.*2709A>T) n.3092A>T c.76A>T (p.Met26Leu) c.124A>T (p.Met42Leu) c.523A>T (p.Met175Leu) c.2989A>T (p.Met997Leu) c.655+4712A>T (n.655+4712A>T) c.2920A>T (p.Met974Leu) c.2983A>T (p.Met995Leu) c.2971A>T (p.Met991Leu) | |
| 2 | g.144396487T>C | CA348704097 | ZEB2 | c.*2841A>G (n.*2841A>G) c.2215A>G (p.Met739Val) c.2992A>G (p.Met998Val) n.2961A>G c.2656A>G (p.Met886Val) c.3067A>G (p.Met1023Val) c.*2709A>G (n.*2709A>G) n.3092A>G c.76A>G (p.Met26Val) c.124A>G (p.Met42Val) c.523A>G (p.Met175Val) c.2989A>G (p.Met997Val) c.655+4712A>G (n.655+4712A>G) c.2920A>G (p.Met974Val) c.2983A>G (p.Met995Val) c.2971A>G (p.Met991Val) | gnomAD v4 COSMIC |
| 2 | g.144396487T>G | CA348704103 | ZEB2 | c.*2841A>C (n.*2841A>C) c.2215A>C (p.Met739Leu) c.2992A>C (p.Met998Leu) n.2961A>C c.2656A>C (p.Met886Leu) c.3067A>C (p.Met1023Leu) c.*2709A>C (n.*2709A>C) n.3092A>C c.76A>C (p.Met26Leu) c.124A>C (p.Met42Leu) c.523A>C (p.Met175Leu) c.2989A>C (p.Met997Leu) c.655+4712A>C (n.655+4712A>C) c.2920A>C (p.Met974Leu) c.2983A>C (p.Met995Leu) c.2971A>C (p.Met991Leu) | |
| 2 | g.144396488G>A | CA429217599 | ZEB2 | c.*2840C>T (n.*2840C>T) c.2214C>T (p.Gly738=) c.2991C>T (p.Gly997=) n.2960C>T c.2655C>T (p.Gly885=) c.3066C>T (p.Gly1022=) c.*2708C>T (n.*2708C>T) n.3091C>T c.75C>T (p.Gly25=) c.123C>T (p.Gly41=) c.522C>T (p.Gly174=) c.2988C>T (p.Gly996=) c.655+4711C>T (n.655+4711C>T) c.2919C>T (p.Gly973=) c.2982C>T (p.Gly994=) c.2970C>T (p.Gly990=) | |
| 2 | g.144396488G>C | CA429217600 | ZEB2 | c.*2840C>G (n.*2840C>G) c.2214C>G (p.Gly738=) c.2991C>G (p.Gly997=) n.2960C>G c.2655C>G (p.Gly885=) c.3066C>G (p.Gly1022=) c.*2708C>G (n.*2708C>G) n.3091C>G c.75C>G (p.Gly25=) c.123C>G (p.Gly41=) c.522C>G (p.Gly174=) c.2988C>G (p.Gly996=) c.655+4711C>G (n.655+4711C>G) c.2919C>G (p.Gly973=) c.2982C>G (p.Gly994=) c.2970C>G (p.Gly990=) | |
| 2 | g.144396488G>T | CA429217601 | ZEB2 | c.*2840C>A (n.*2840C>A) c.2214C>A (p.Gly738=) c.2991C>A (p.Gly997=) n.2960C>A c.2655C>A (p.Gly885=) c.3066C>A (p.Gly1022=) c.*2708C>A (n.*2708C>A) n.3091C>A c.75C>A (p.Gly25=) c.123C>A (p.Gly41=) c.522C>A (p.Gly174=) c.2988C>A (p.Gly996=) c.655+4711C>A (n.655+4711C>A) c.2919C>A (p.Gly973=) c.2982C>A (p.Gly994=) c.2970C>A (p.Gly990=) | |
| 2 | g.144396488_144396489del | CA658766350 | ZEB2 | c.*2839_*2840del (n.*2839_*2840del) c.2213_2214del (p.Gly738AspfsTer5) c.2990_2991del (p.Gly997AspfsTer5) n.2959_2960del c.2654_2655del (p.Gly885AspfsTer5) c.3065_3066del (p.Gly1022AspfsTer5) c.*2707_*2708del (n.*2707_*2708del) n.3090_3091del c.74_75del (p.Gly25AspfsTer5) c.122_123del (p.Gly41AspfsTer5) c.521_522del (p.Gly174AspfsTer5) c.2987_2988del (p.Gly996AspfsTer5) c.655+4710_655+4711del (n.655+4710_655+4711del) c.2918_2919del (p.Gly973AspfsTer5) c.2981_2982del (p.Gly994AspfsTer5) c.2969_2970del (p.Gly990AspfsTer5) | |
| 2 | g.144396489C>A | CA348704108 | ZEB2 | c.*2839G>T (n.*2839G>T) c.2213G>T (p.Gly738Val) c.2990G>T (p.Gly997Val) n.2959G>T c.2654G>T (p.Gly885Val) c.3065G>T (p.Gly1022Val) c.*2707G>T (n.*2707G>T) n.3090G>T c.74G>T (p.Gly25Val) c.122G>T (p.Gly41Val) c.521G>T (p.Gly174Val) c.2987G>T (p.Gly996Val) c.655+4710G>T (n.655+4710G>T) c.2918G>T (p.Gly973Val) c.2981G>T (p.Gly994Val) c.2969G>T (p.Gly990Val) | ClinVar dbSNP |
| 2 | g.144396489C>G | CA348704106 | ZEB2 | c.*2839G>C (n.*2839G>C) c.2213G>C (p.Gly738Ala) c.2990G>C (p.Gly997Ala) n.2959G>C c.2654G>C (p.Gly885Ala) c.3065G>C (p.Gly1022Ala) c.*2707G>C (n.*2707G>C) n.3090G>C c.74G>C (p.Gly25Ala) c.122G>C (p.Gly41Ala) c.521G>C (p.Gly174Ala) c.2987G>C (p.Gly996Ala) c.655+4710G>C (n.655+4710G>C) c.2918G>C (p.Gly973Ala) c.2981G>C (p.Gly994Ala) c.2969G>C (p.Gly990Ala) | |
| 2 | g.144396489C>T | CA348704107 | ZEB2 | c.*2839G>A (n.*2839G>A) c.2213G>A (p.Gly738Asp) c.2990G>A (p.Gly997Asp) n.2959G>A c.2654G>A (p.Gly885Asp) c.3065G>A (p.Gly1022Asp) c.*2707G>A (n.*2707G>A) n.3090G>A c.74G>A (p.Gly25Asp) c.122G>A (p.Gly41Asp) c.521G>A (p.Gly174Asp) c.2987G>A (p.Gly996Asp) c.655+4710G>A (n.655+4710G>A) c.2918G>A (p.Gly973Asp) c.2981G>A (p.Gly994Asp) c.2969G>A (p.Gly990Asp) | ClinVar dbSNP |
| 2 | g.144396490C>A | CA348704111 | ZEB2 | c.*2838G>T (n.*2838G>T) c.2212G>T (p.Gly738Cys) c.2989G>T (p.Gly997Cys) n.2958G>T c.2653G>T (p.Gly885Cys) c.3064G>T (p.Gly1022Cys) c.*2706G>T (n.*2706G>T) n.3089G>T c.73G>T (p.Gly25Cys) c.121G>T (p.Gly41Cys) c.520G>T (p.Gly174Cys) c.2986G>T (p.Gly996Cys) c.655+4709G>T (n.655+4709G>T) c.2917G>T (p.Gly973Cys) c.2980G>T (p.Gly994Cys) c.2968G>T (p.Gly990Cys) | dbSNP |
| 2 | g.144396490C= | CA1294884082 | ZEB2 | c.*2838G= (n.*2838G=) c.2212G= (p.Gly738=) c.2989G= (p.Gly997=) n.2958G= c.2653G= (p.Gly885=) c.3064G= (p.Gly1022=) c.*2706G= (n.*2706G=) n.3089G= c.73G= (p.Gly25=) c.121G= (p.Gly41=) c.520G= (p.Gly174=) c.2986G= (p.Gly996=) c.655+4709G= (n.655+4709G=) c.2917G= (p.Gly973=) c.2980G= (p.Gly994=) c.2968G= (p.Gly990=) | |
| 2 | g.144396490C>G | CA348704112 | ZEB2 | c.*2838G>C (n.*2838G>C) c.2212G>C (p.Gly738Arg) c.2989G>C (p.Gly997Arg) n.2958G>C c.2653G>C (p.Gly885Arg) c.3064G>C (p.Gly1022Arg) c.*2706G>C (n.*2706G>C) n.3089G>C c.73G>C (p.Gly25Arg) c.121G>C (p.Gly41Arg) c.520G>C (p.Gly174Arg) c.2986G>C (p.Gly996Arg) c.655+4709G>C (n.655+4709G>C) c.2917G>C (p.Gly973Arg) c.2980G>C (p.Gly994Arg) c.2968G>C (p.Gly990Arg) | |
| 2 | g.144396490C>T | CA348704113 | ZEB2 | c.*2838G>A (n.*2838G>A) c.2212G>A (p.Gly738Ser) c.2989G>A (p.Gly997Ser) n.2958G>A c.2653G>A (p.Gly885Ser) c.3064G>A (p.Gly1022Ser) c.*2706G>A (n.*2706G>A) n.3089G>A c.73G>A (p.Gly25Ser) c.121G>A (p.Gly41Ser) c.520G>A (p.Gly174Ser) c.2986G>A (p.Gly996Ser) c.655+4709G>A (n.655+4709G>A) c.2917G>A (p.Gly973Ser) c.2980G>A (p.Gly994Ser) c.2968G>A (p.Gly990Ser) | dbSNP gnomAD v4 |
| 2 | g.144396491_144396492del | CA2586970067 | ZEB2 | c.*2837_*2838del (n.*2837_*2838del) c.2211_2212del (p.Ser737ArgfsTer6) c.2988_2989del (p.Ser996ArgfsTer6) n.2957_2958del c.2652_2653del (p.Ser884ArgfsTer6) c.3063_3064del (p.Ser1021ArgfsTer6) c.*2705_*2706del (n.*2705_*2706del) n.3088_3089del c.72_73del (p.Ser24ArgfsTer6) c.120_121del (p.Ser40ArgfsTer6) c.519_520del (p.Ser173ArgfsTer6) c.2985_2986del (p.Ser995ArgfsTer6) c.655+4708_655+4709del (n.655+4708_655+4709del) c.2916_2917del (p.Ser972ArgfsTer6) c.2979_2980del (p.Ser993ArgfsTer6) c.2967_2968del (p.Ser989ArgfsTer6) | |
| 2 | g.144396491A= | CA1294884084 | ZEB2 | c.*2837T= (n.*2837T=) c.2211T= (p.Ser737=) c.2988T= (p.Ser996=) n.2957T= c.2652T= (p.Ser884=) c.3063T= (p.Ser1021=) c.*2705T= (n.*2705T=) n.3088T= c.72T= (p.Ser24=) c.120T= (p.Ser40=) c.519T= (p.Ser173=) c.2985T= (p.Ser995=) c.655+4708T= (n.655+4708T=) c.2916T= (p.Ser972=) c.2979T= (p.Ser993=) c.2967T= (p.Ser989=) | |
| 2 | g.144396491A>C | CA348704114 | ZEB2 | c.*2837T>G (n.*2837T>G) c.2211T>G (p.Ser737Arg) c.2988T>G (p.Ser996Arg) n.2957T>G c.2652T>G (p.Ser884Arg) c.3063T>G (p.Ser1021Arg) c.*2705T>G (n.*2705T>G) n.3088T>G c.72T>G (p.Ser24Arg) c.120T>G (p.Ser40Arg) c.519T>G (p.Ser173Arg) c.2985T>G (p.Ser995Arg) c.655+4708T>G (n.655+4708T>G) c.2916T>G (p.Ser972Arg) c.2979T>G (p.Ser993Arg) c.2967T>G (p.Ser989Arg) | |
| 2 | g.144396491A>G | CA57553432 | ZEB2 | c.*2837T>C (n.*2837T>C) c.2211T>C (p.Ser737=) c.2988T>C (p.Ser996=) n.2957T>C c.2652T>C (p.Ser884=) c.3063T>C (p.Ser1021=) c.*2705T>C (n.*2705T>C) n.3088T>C c.72T>C (p.Ser24=) c.120T>C (p.Ser40=) c.519T>C (p.Ser173=) c.2985T>C (p.Ser995=) c.655+4708T>C (n.655+4708T>C) c.2916T>C (p.Ser972=) c.2979T>C (p.Ser993=) c.2967T>C (p.Ser989=) | dbSNP |
| 2 | g.144396491A>T | CA348704115 | ZEB2 | c.*2837T>A (n.*2837T>A) c.2211T>A (p.Ser737Arg) c.2988T>A (p.Ser996Arg) n.2957T>A c.2652T>A (p.Ser884Arg) c.3063T>A (p.Ser1021Arg) c.*2705T>A (n.*2705T>A) n.3088T>A c.72T>A (p.Ser24Arg) c.120T>A (p.Ser40Arg) c.519T>A (p.Ser173Arg) c.2985T>A (p.Ser995Arg) c.655+4708T>A (n.655+4708T>A) c.2916T>A (p.Ser972Arg) c.2979T>A (p.Ser993Arg) c.2967T>A (p.Ser989Arg) | |
| 2 | g.144396491_144396493delinsACT | CA1294884083 | ZEB2 | c.*2835_*2837delinsAGT (n.*2835_*2837delinsAGT) c.2209_2211delinsAGT (p.Ser737=) c.2986_2988delinsAGT (p.Ser996=) n.2955_2957delinsAGT c.2650_2652delinsAGT (p.Ser884=) c.3061_3063delinsAGT (p.Ser1021=) c.*2703_*2705delinsAGT (n.*2703_*2705delinsAGT) n.3086_3088delinsAGT c.70_72delinsAGT (p.Ser24=) c.118_120delinsAGT (p.Ser40=) c.517_519delinsAGT (p.Ser173=) c.2983_2985delinsAGT (p.Ser995=) c.655+4706_655+4708delinsAGT (n.655+4706_655+4708delinsAGT) c.2914_2916delinsAGT (p.Ser972=) c.2977_2979delinsAGT (p.Ser993=) c.2965_2967delinsAGT (p.Ser989=) | |
| 2 | g.144396492C>A | CA348704118 | ZEB2 | c.*2836G>T (n.*2836G>T) c.2210G>T (p.Ser737Ile) c.2987G>T (p.Ser996Ile) n.2956G>T c.2651G>T (p.Ser884Ile) c.3062G>T (p.Ser1021Ile) c.*2704G>T (n.*2704G>T) n.3087G>T c.71G>T (p.Ser24Ile) c.119G>T (p.Ser40Ile) c.518G>T (p.Ser173Ile) c.2984G>T (p.Ser995Ile) c.655+4707G>T (n.655+4707G>T) c.2915G>T (p.Ser972Ile) c.2978G>T (p.Ser993Ile) c.2966G>T (p.Ser989Ile) | |
| 2 | g.144396492C>G | CA348704120 | ZEB2 | c.*2836G>C (n.*2836G>C) c.2210G>C (p.Ser737Thr) c.2987G>C (p.Ser996Thr) n.2956G>C c.2651G>C (p.Ser884Thr) c.3062G>C (p.Ser1021Thr) c.*2704G>C (n.*2704G>C) n.3087G>C c.71G>C (p.Ser24Thr) c.119G>C (p.Ser40Thr) c.518G>C (p.Ser173Thr) c.2984G>C (p.Ser995Thr) c.655+4707G>C (n.655+4707G>C) c.2915G>C (p.Ser972Thr) c.2978G>C (p.Ser993Thr) c.2966G>C (p.Ser989Thr) | |
| 2 | g.144396492C>T | CA348704125 | ZEB2 | c.*2836G>A (n.*2836G>A) c.2210G>A (p.Ser737Asn) c.2987G>A (p.Ser996Asn) n.2956G>A c.2651G>A (p.Ser884Asn) c.3062G>A (p.Ser1021Asn) c.*2704G>A (n.*2704G>A) n.3087G>A c.71G>A (p.Ser24Asn) c.119G>A (p.Ser40Asn) c.518G>A (p.Ser173Asn) c.2984G>A (p.Ser995Asn) c.655+4707G>A (n.655+4707G>A) c.2915G>A (p.Ser972Asn) c.2978G>A (p.Ser993Asn) c.2966G>A (p.Ser989Asn) | |
| 2 | g.144396496_144396497del | CA658795856 | ZEB2 | c.*2835_*2836del (n.*2835_*2836del) c.2209_2210del (p.Ser737TrpfsTer6) c.2986_2987del (p.Ser996TrpfsTer6) n.2955_2956del c.2650_2651del (p.Ser884TrpfsTer6) c.3061_3062del (p.Ser1021TrpfsTer6) c.*2703_*2704del (n.*2703_*2704del) n.3086_3087del c.70_71del (p.Ser24TrpfsTer6) c.118_119del (p.Ser40TrpfsTer6) c.517_518del (p.Ser173TrpfsTer6) c.2983_2984del (p.Ser995TrpfsTer6) c.655+4706_655+4707del (n.655+4706_655+4707del) c.2914_2915del (p.Ser972TrpfsTer6) c.2977_2978del (p.Ser993TrpfsTer6) c.2965_2966del (p.Ser989TrpfsTer6) | ClinVar dbSNP |
| 2 | g.144396494_144396497del | CA2752520605 | ZEB2 | c.*2833_*2836del (n.*2833_*2836del) c.2207_2210del (p.Glu736ValfsTer?) c.2984_2987del (p.Glu995ValfsTer?) n.2953_2956del c.2648_2651del (p.Glu883ValfsTer?) c.3059_3062del (p.Glu1020ValfsTer?) c.*2701_*2704del (n.*2701_*2704del) n.3084_3087del c.68_71del (p.Glu23ValfsTer?) c.116_119del (p.Glu39ValfsTer30) c.515_518del (p.Glu172ValfsTer?) c.2981_2984del (p.Glu994ValfsTer?) c.655+4704_655+4707del (n.655+4704_655+4707del) c.2912_2915del (p.Glu971ValfsTer?) c.2975_2978del (p.Glu992ValfsTer?) c.2963_2966del (p.Glu988ValfsTer?) | |
| 2 | g.144396493T>A | CA348704126 | ZEB2 | c.*2835A>T (n.*2835A>T) c.2209A>T (p.Ser737Cys) c.2986A>T (p.Ser996Cys) n.2955A>T c.2650A>T (p.Ser884Cys) c.3061A>T (p.Ser1021Cys) c.*2703A>T (n.*2703A>T) n.3086A>T c.70A>T (p.Ser24Cys) c.118A>T (p.Ser40Cys) c.517A>T (p.Ser173Cys) c.2983A>T (p.Ser995Cys) c.655+4706A>T (n.655+4706A>T) c.2914A>T (p.Ser972Cys) c.2977A>T (p.Ser993Cys) c.2965A>T (p.Ser989Cys) | |
| 2 | g.144396493T>C | CA348704127 | ZEB2 | c.*2835A>G (n.*2835A>G) c.2209A>G (p.Ser737Gly) c.2986A>G (p.Ser996Gly) n.2955A>G c.2650A>G (p.Ser884Gly) c.3061A>G (p.Ser1021Gly) c.*2703A>G (n.*2703A>G) n.3086A>G c.70A>G (p.Ser24Gly) c.118A>G (p.Ser40Gly) c.517A>G (p.Ser173Gly) c.2983A>G (p.Ser995Gly) c.655+4706A>G (n.655+4706A>G) c.2914A>G (p.Ser972Gly) c.2977A>G (p.Ser993Gly) c.2965A>G (p.Ser989Gly) | dbSNP |
| 2 | g.144396493T>G | CA348704129 | ZEB2 | c.*2835A>C (n.*2835A>C) c.2209A>C (p.Ser737Arg) c.2986A>C (p.Ser996Arg) n.2955A>C c.2650A>C (p.Ser884Arg) c.3061A>C (p.Ser1021Arg) c.*2703A>C (n.*2703A>C) n.3086A>C c.70A>C (p.Ser24Arg) c.118A>C (p.Ser40Arg) c.517A>C (p.Ser173Arg) c.2983A>C (p.Ser995Arg) c.655+4706A>C (n.655+4706A>C) c.2914A>C (p.Ser972Arg) c.2977A>C (p.Ser993Arg) c.2965A>C (p.Ser989Arg) | |
| 2 | g.144396493T= | CA1294884085 | ZEB2 | c.*2835A= (n.*2835A=) c.2209A= (p.Ser737=) c.2986A= (p.Ser996=) n.2955A= c.2650A= (p.Ser884=) c.3061A= (p.Ser1021=) c.*2703A= (n.*2703A=) n.3086A= c.70A= (p.Ser24=) c.118A= (p.Ser40=) c.517A= (p.Ser173=) c.2983A= (p.Ser995=) c.655+4706A= (n.655+4706A=) c.2914A= (p.Ser972=) c.2977A= (p.Ser993=) c.2965A= (p.Ser989=) | |
| 2 | g.144396494C>A | CA348704136 | ZEB2 | c.*2834G>T (n.*2834G>T) c.2208G>T (p.Glu736Asp) c.2985G>T (p.Glu995Asp) n.2954G>T c.2649G>T (p.Glu883Asp) c.3060G>T (p.Glu1020Asp) c.*2702G>T (n.*2702G>T) n.3085G>T c.69G>T (p.Glu23Asp) c.117G>T (p.Glu39Asp) c.516G>T (p.Glu172Asp) c.2982G>T (p.Glu994Asp) c.655+4705G>T (n.655+4705G>T) c.2913G>T (p.Glu971Asp) c.2976G>T (p.Glu992Asp) c.2964G>T (p.Glu988Asp) | |
| 2 | g.144396494C>G | CA348704133 | ZEB2 | c.*2834G>C (n.*2834G>C) c.2208G>C (p.Glu736Asp) c.2985G>C (p.Glu995Asp) n.2954G>C c.2649G>C (p.Glu883Asp) c.3060G>C (p.Glu1020Asp) c.*2702G>C (n.*2702G>C) n.3085G>C c.69G>C (p.Glu23Asp) c.117G>C (p.Glu39Asp) c.516G>C (p.Glu172Asp) c.2982G>C (p.Glu994Asp) c.655+4705G>C (n.655+4705G>C) c.2913G>C (p.Glu971Asp) c.2976G>C (p.Glu992Asp) c.2964G>C (p.Glu988Asp) | |
| 2 | g.144396494C>T | CA429217602 | ZEB2 | c.*2834G>A (n.*2834G>A) c.2208G>A (p.Glu736=) c.2985G>A (p.Glu995=) n.2954G>A c.2649G>A (p.Glu883=) c.3060G>A (p.Glu1020=) c.*2702G>A (n.*2702G>A) n.3085G>A c.69G>A (p.Glu23=) c.117G>A (p.Glu39=) c.516G>A (p.Glu172=) c.2982G>A (p.Glu994=) c.655+4705G>A (n.655+4705G>A) c.2913G>A (p.Glu971=) c.2976G>A (p.Glu992=) c.2964G>A (p.Glu988=) | |
| 2 | g.144396495T>A | CA348704140 | ZEB2 | c.*2833A>T (n.*2833A>T) c.2207A>T (p.Glu736Val) c.2984A>T (p.Glu995Val) n.2953A>T c.2648A>T (p.Glu883Val) c.3059A>T (p.Glu1020Val) c.*2701A>T (n.*2701A>T) n.3084A>T c.68A>T (p.Glu23Val) c.116A>T (p.Glu39Val) c.515A>T (p.Glu172Val) c.2981A>T (p.Glu994Val) c.655+4704A>T (n.655+4704A>T) c.2912A>T (p.Glu971Val) c.2975A>T (p.Glu992Val) c.2963A>T (p.Glu988Val) | |
| 2 | g.144396495T>C | CA348704143 | ZEB2 | c.*2833A>G (n.*2833A>G) c.2207A>G (p.Glu736Gly) c.2984A>G (p.Glu995Gly) n.2953A>G c.2648A>G (p.Glu883Gly) c.3059A>G (p.Glu1020Gly) c.*2701A>G (n.*2701A>G) n.3084A>G c.68A>G (p.Glu23Gly) c.116A>G (p.Glu39Gly) c.515A>G (p.Glu172Gly) c.2981A>G (p.Glu994Gly) c.655+4704A>G (n.655+4704A>G) c.2912A>G (p.Glu971Gly) c.2975A>G (p.Glu992Gly) c.2963A>G (p.Glu988Gly) | |
| 2 | g.144396495T>G | CA348704145 | ZEB2 | c.*2833A>C (n.*2833A>C) c.2207A>C (p.Glu736Ala) c.2984A>C (p.Glu995Ala) n.2953A>C c.2648A>C (p.Glu883Ala) c.3059A>C (p.Glu1020Ala) c.*2701A>C (n.*2701A>C) n.3084A>C c.68A>C (p.Glu23Ala) c.116A>C (p.Glu39Ala) c.515A>C (p.Glu172Ala) c.2981A>C (p.Glu994Ala) c.655+4704A>C (n.655+4704A>C) c.2912A>C (p.Glu971Ala) c.2975A>C (p.Glu992Ala) c.2963A>C (p.Glu988Ala) |