| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144396471A>C | CA348703966 | ZEB2 | c.*2857T>G (n.*2857T>G) c.2231T>G (p.Leu744Ter) c.3008T>G (p.Leu1003Ter) n.2977T>G c.2672T>G (p.Leu891Ter) c.3083T>G (p.Leu1028Ter) c.*2725T>G (n.*2725T>G) n.3108T>G c.92T>G (p.Leu31Ter) c.140T>G (p.Leu47Ter) c.539T>G (p.Leu180Ter) c.3005T>G (p.Leu1002Ter) c.655+4728T>G (n.655+4728T>G) c.2936T>G (p.Leu979Ter) c.2999T>G (p.Leu1000Ter) c.2987T>G (p.Leu996Ter) | |
| 2 | g.144396471A>G | CA348703971 | ZEB2 | c.*2857T>C (n.*2857T>C) c.2231T>C (p.Leu744Ser) c.3008T>C (p.Leu1003Ser) n.2977T>C c.2672T>C (p.Leu891Ser) c.3083T>C (p.Leu1028Ser) c.*2725T>C (n.*2725T>C) n.3108T>C c.92T>C (p.Leu31Ser) c.140T>C (p.Leu47Ser) c.539T>C (p.Leu180Ser) c.3005T>C (p.Leu1002Ser) c.655+4728T>C (n.655+4728T>C) c.2936T>C (p.Leu979Ser) c.2999T>C (p.Leu1000Ser) c.2987T>C (p.Leu996Ser) | |
| 2 | g.144396471A>T | CA348703974 | ZEB2 | c.*2857T>A (n.*2857T>A) c.2231T>A (p.Leu744Ter) c.3008T>A (p.Leu1003Ter) n.2977T>A c.2672T>A (p.Leu891Ter) c.3083T>A (p.Leu1028Ter) c.*2725T>A (n.*2725T>A) n.3108T>A c.92T>A (p.Leu31Ter) c.140T>A (p.Leu47Ter) c.539T>A (p.Leu180Ter) c.3005T>A (p.Leu1002Ter) c.655+4728T>A (n.655+4728T>A) c.2936T>A (p.Leu979Ter) c.2999T>A (p.Leu1000Ter) c.2987T>A (p.Leu996Ter) | |
| 2 | g.144396472A>C | CA348703978 | ZEB2 | c.*2856T>G (n.*2856T>G) c.2230T>G (p.Leu744Val) c.3007T>G (p.Leu1003Val) n.2976T>G c.2671T>G (p.Leu891Val) c.3082T>G (p.Leu1028Val) c.*2724T>G (n.*2724T>G) n.3107T>G c.91T>G (p.Leu31Val) c.139T>G (p.Leu47Val) c.538T>G (p.Leu180Val) c.3004T>G (p.Leu1002Val) c.655+4727T>G (n.655+4727T>G) c.2935T>G (p.Leu979Val) c.2998T>G (p.Leu1000Val) c.2986T>G (p.Leu996Val) | COSMIC |
| 2 | g.144396472A>G | CA429217591 | ZEB2 | c.*2856T>C (n.*2856T>C) c.2230T>C (p.Leu744=) c.3007T>C (p.Leu1003=) n.2976T>C c.2671T>C (p.Leu891=) c.3082T>C (p.Leu1028=) c.*2724T>C (n.*2724T>C) n.3107T>C c.91T>C (p.Leu31=) c.139T>C (p.Leu47=) c.538T>C (p.Leu180=) c.3004T>C (p.Leu1002=) c.655+4727T>C (n.655+4727T>C) c.2935T>C (p.Leu979=) c.2998T>C (p.Leu1000=) c.2986T>C (p.Leu996=) | gnomAD v4 |
| 2 | g.144396472A>T | CA348703982 | ZEB2 | c.*2856T>A (n.*2856T>A) c.2230T>A (p.Leu744Ile) c.3007T>A (p.Leu1003Ile) n.2976T>A c.2671T>A (p.Leu891Ile) c.3082T>A (p.Leu1028Ile) c.*2724T>A (n.*2724T>A) n.3107T>A c.91T>A (p.Leu31Ile) c.139T>A (p.Leu47Ile) c.538T>A (p.Leu180Ile) c.3004T>A (p.Leu1002Ile) c.655+4727T>A (n.655+4727T>A) c.2935T>A (p.Leu979Ile) c.2998T>A (p.Leu1000Ile) c.2986T>A (p.Leu996Ile) | |
| 2 | g.144396473G>A | CA429217592 | ZEB2 | c.*2855C>T (n.*2855C>T) c.2229C>T (p.Asp743=) c.3006C>T (p.Asp1002=) n.2975C>T c.2670C>T (p.Asp890=) c.3081C>T (p.Asp1027=) c.*2723C>T (n.*2723C>T) n.3106C>T c.90C>T (p.Asp30=) c.138C>T (p.Asp46=) c.537C>T (p.Asp179=) c.3003C>T (p.Asp1001=) c.655+4726C>T (n.655+4726C>T) c.2934C>T (p.Asp978=) c.2997C>T (p.Asp999=) c.2985C>T (p.Asp995=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.144396473G>C | CA348703983 | ZEB2 | c.*2855C>G (n.*2855C>G) c.2229C>G (p.Asp743Glu) c.3006C>G (p.Asp1002Glu) n.2975C>G c.2670C>G (p.Asp890Glu) c.3081C>G (p.Asp1027Glu) c.*2723C>G (n.*2723C>G) n.3106C>G c.90C>G (p.Asp30Glu) c.138C>G (p.Asp46Glu) c.537C>G (p.Asp179Glu) c.3003C>G (p.Asp1001Glu) c.655+4726C>G (n.655+4726C>G) c.2934C>G (p.Asp978Glu) c.2997C>G (p.Asp999Glu) c.2985C>G (p.Asp995Glu) | |
| 2 | g.144396473G= | CA1294884077 | ZEB2 | c.*2855C= (n.*2855C=) c.2229C= (p.Asp743=) c.3006C= (p.Asp1002=) n.2975C= c.2670C= (p.Asp890=) c.3081C= (p.Asp1027=) c.*2723C= (n.*2723C=) n.3106C= c.90C= (p.Asp30=) c.138C= (p.Asp46=) c.537C= (p.Asp179=) c.3003C= (p.Asp1001=) c.655+4726C= (n.655+4726C=) c.2934C= (p.Asp978=) c.2997C= (p.Asp999=) c.2985C= (p.Asp995=) | |
| 2 | g.144396473G>T | CA348703984 | ZEB2 | c.*2855C>A (n.*2855C>A) c.2229C>A (p.Asp743Glu) c.3006C>A (p.Asp1002Glu) n.2975C>A c.2670C>A (p.Asp890Glu) c.3081C>A (p.Asp1027Glu) c.*2723C>A (n.*2723C>A) n.3106C>A c.90C>A (p.Asp30Glu) c.138C>A (p.Asp46Glu) c.537C>A (p.Asp179Glu) c.3003C>A (p.Asp1001Glu) c.655+4726C>A (n.655+4726C>A) c.2934C>A (p.Asp978Glu) c.2997C>A (p.Asp999Glu) c.2985C>A (p.Asp995Glu) | |
| 2 | g.144396474T>A | CA348703985 | ZEB2 | c.*2854A>T (n.*2854A>T) c.2228A>T (p.Asp743Val) c.3005A>T (p.Asp1002Val) n.2974A>T c.2669A>T (p.Asp890Val) c.3080A>T (p.Asp1027Val) c.*2722A>T (n.*2722A>T) n.3105A>T c.89A>T (p.Asp30Val) c.137A>T (p.Asp46Val) c.536A>T (p.Asp179Val) c.3002A>T (p.Asp1001Val) c.655+4725A>T (n.655+4725A>T) c.2933A>T (p.Asp978Val) c.2996A>T (p.Asp999Val) c.2984A>T (p.Asp995Val) | |
| 2 | g.144396474T>C | CA348703987 | ZEB2 | c.*2854A>G (n.*2854A>G) c.2228A>G (p.Asp743Gly) c.3005A>G (p.Asp1002Gly) n.2974A>G c.2669A>G (p.Asp890Gly) c.3080A>G (p.Asp1027Gly) c.*2722A>G (n.*2722A>G) n.3105A>G c.89A>G (p.Asp30Gly) c.137A>G (p.Asp46Gly) c.536A>G (p.Asp179Gly) c.3002A>G (p.Asp1001Gly) c.655+4725A>G (n.655+4725A>G) c.2933A>G (p.Asp978Gly) c.2996A>G (p.Asp999Gly) c.2984A>G (p.Asp995Gly) | |
| 2 | g.144396474T>G | CA348703993 | ZEB2 | c.*2854A>C (n.*2854A>C) c.2228A>C (p.Asp743Ala) c.3005A>C (p.Asp1002Ala) n.2974A>C c.2669A>C (p.Asp890Ala) c.3080A>C (p.Asp1027Ala) c.*2722A>C (n.*2722A>C) n.3105A>C c.89A>C (p.Asp30Ala) c.137A>C (p.Asp46Ala) c.536A>C (p.Asp179Ala) c.3002A>C (p.Asp1001Ala) c.655+4725A>C (n.655+4725A>C) c.2933A>C (p.Asp978Ala) c.2996A>C (p.Asp999Ala) c.2984A>C (p.Asp995Ala) | |
| 2 | g.144396475C>A | CA348704008 | ZEB2 | c.*2853G>T (n.*2853G>T) c.2227G>T (p.Asp743Tyr) c.3004G>T (p.Asp1002Tyr) n.2973G>T c.2668G>T (p.Asp890Tyr) c.3079G>T (p.Asp1027Tyr) c.*2721G>T (n.*2721G>T) n.3104G>T c.88G>T (p.Asp30Tyr) c.136G>T (p.Asp46Tyr) c.535G>T (p.Asp179Tyr) c.3001G>T (p.Asp1001Tyr) c.655+4724G>T (n.655+4724G>T) c.2932G>T (p.Asp978Tyr) c.2995G>T (p.Asp999Tyr) c.2983G>T (p.Asp995Tyr) | |
| 2 | g.144396475C>G | CA348704011 | ZEB2 | c.*2853G>C (n.*2853G>C) c.2227G>C (p.Asp743His) c.3004G>C (p.Asp1002His) n.2973G>C c.2668G>C (p.Asp890His) c.3079G>C (p.Asp1027His) c.*2721G>C (n.*2721G>C) n.3104G>C c.88G>C (p.Asp30His) c.136G>C (p.Asp46His) c.535G>C (p.Asp179His) c.3001G>C (p.Asp1001His) c.655+4724G>C (n.655+4724G>C) c.2932G>C (p.Asp978His) c.2995G>C (p.Asp999His) c.2983G>C (p.Asp995His) | |
| 2 | g.144396475C>T | CA348704006 | ZEB2 | c.*2853G>A (n.*2853G>A) c.2227G>A (p.Asp743Asn) c.3004G>A (p.Asp1002Asn) n.2973G>A c.2668G>A (p.Asp890Asn) c.3079G>A (p.Asp1027Asn) c.*2721G>A (n.*2721G>A) n.3104G>A c.88G>A (p.Asp30Asn) c.136G>A (p.Asp46Asn) c.535G>A (p.Asp179Asn) c.3001G>A (p.Asp1001Asn) c.655+4724G>A (n.655+4724G>A) c.2932G>A (p.Asp978Asn) c.2995G>A (p.Asp999Asn) c.2983G>A (p.Asp995Asn) | |
| 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.144396476A>C | CA348704014 | ZEB2 | c.*2852T>G (n.*2852T>G) c.2226T>G (p.Cys742Trp) c.3003T>G (p.Cys1001Trp) n.2972T>G c.2667T>G (p.Cys889Trp) c.3078T>G (p.Cys1026Trp) c.*2720T>G (n.*2720T>G) n.3103T>G c.87T>G (p.Cys29Trp) c.135T>G (p.Cys45Trp) c.534T>G (p.Cys178Trp) c.3000T>G (p.Cys1000Trp) c.655+4723T>G (n.655+4723T>G) c.2931T>G (p.Cys977Trp) c.2994T>G (p.Cys998Trp) c.2982T>G (p.Cys994Trp) | |
| 2 | g.144396476A>G | CA429217593 | ZEB2 | c.*2852T>C (n.*2852T>C) c.2226T>C (p.Cys742=) c.3003T>C (p.Cys1001=) n.2972T>C c.2667T>C (p.Cys889=) c.3078T>C (p.Cys1026=) c.*2720T>C (n.*2720T>C) n.3103T>C c.87T>C (p.Cys29=) c.135T>C (p.Cys45=) c.534T>C (p.Cys178=) c.3000T>C (p.Cys1000=) c.655+4723T>C (n.655+4723T>C) c.2931T>C (p.Cys977=) c.2994T>C (p.Cys998=) c.2982T>C (p.Cys994=) | |
| 2 | g.144396476A>T | CA348704020 | ZEB2 | c.*2852T>A (n.*2852T>A) c.2226T>A (p.Cys742Ter) c.3003T>A (p.Cys1001Ter) n.2972T>A c.2667T>A (p.Cys889Ter) c.3078T>A (p.Cys1026Ter) c.*2720T>A (n.*2720T>A) n.3103T>A c.87T>A (p.Cys29Ter) c.135T>A (p.Cys45Ter) c.534T>A (p.Cys178Ter) c.3000T>A (p.Cys1000Ter) c.655+4723T>A (n.655+4723T>A) c.2931T>A (p.Cys977Ter) c.2994T>A (p.Cys998Ter) c.2982T>A (p.Cys994Ter) | |
| 2 | g.144396476_144396477delinsAC | CA1294884079 | ZEB2 | c.*2851_*2852delinsGT (n.*2851_*2852delinsGT) c.2225_2226delinsGT (p.Cys742=) c.3002_3003delinsGT (p.Cys1001=) n.2971_2972delinsGT c.2666_2667delinsGT (p.Cys889=) c.3077_3078delinsGT (p.Cys1026=) c.*2719_*2720delinsGT (n.*2719_*2720delinsGT) n.3102_3103delinsGT c.86_87delinsGT (p.Cys29=) c.134_135delinsGT (p.Cys45=) c.533_534delinsGT (p.Cys178=) c.2999_3000delinsGT (p.Cys1000=) c.655+4722_655+4723delinsGT (n.655+4722_655+4723delinsGT) c.2930_2931delinsGT (p.Cys977=) c.2993_2994delinsGT (p.Cys998=) c.2981_2982delinsGT (p.Cys994=) | |
| 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.144396477del | CA297632 | ZEB2 | c.*2851del (n.*2851del) c.2225del (p.Cys742LeufsTer?) c.3002del (p.Cys1001LeufsTer?) n.2971del c.2666del (p.Cys889LeufsTer?) c.3077del (p.Cys1026LeufsTer?) c.*2719del (n.*2719del) n.3102del c.86del (p.Cys29LeufsTer?) c.134del (p.Cys45LeufsTer25) c.533del (p.Cys178LeufsTer?) c.2999del (p.Cys1000LeufsTer?) c.655+4722del (n.655+4722del) c.2930del (p.Cys977LeufsTer?) c.2993del (p.Cys998LeufsTer?) c.2981del (p.Cys994LeufsTer?) | ClinVar dbSNP |
| 2 | g.144396477C>A | CA348704028 | ZEB2 | c.*2851G>T (n.*2851G>T) c.2225G>T (p.Cys742Phe) c.3002G>T (p.Cys1001Phe) n.2971G>T c.2666G>T (p.Cys889Phe) c.3077G>T (p.Cys1026Phe) c.*2719G>T (n.*2719G>T) n.3102G>T c.86G>T (p.Cys29Phe) c.134G>T (p.Cys45Phe) c.533G>T (p.Cys178Phe) c.2999G>T (p.Cys1000Phe) c.655+4722G>T (n.655+4722G>T) c.2930G>T (p.Cys977Phe) c.2993G>T (p.Cys998Phe) c.2981G>T (p.Cys994Phe) | |
| 2 | g.144396477C>G | CA348704031 | ZEB2 | c.*2851G>C (n.*2851G>C) c.2225G>C (p.Cys742Ser) c.3002G>C (p.Cys1001Ser) n.2971G>C c.2666G>C (p.Cys889Ser) c.3077G>C (p.Cys1026Ser) c.*2719G>C (n.*2719G>C) n.3102G>C c.86G>C (p.Cys29Ser) c.134G>C (p.Cys45Ser) c.533G>C (p.Cys178Ser) c.2999G>C (p.Cys1000Ser) c.655+4722G>C (n.655+4722G>C) c.2930G>C (p.Cys977Ser) c.2993G>C (p.Cys998Ser) c.2981G>C (p.Cys994Ser) | |
| 2 | g.144396477C>T | CA348704032 | ZEB2 | c.*2851G>A (n.*2851G>A) c.2225G>A (p.Cys742Tyr) c.3002G>A (p.Cys1001Tyr) n.2971G>A c.2666G>A (p.Cys889Tyr) c.3077G>A (p.Cys1026Tyr) c.*2719G>A (n.*2719G>A) n.3102G>A c.86G>A (p.Cys29Tyr) c.134G>A (p.Cys45Tyr) c.533G>A (p.Cys178Tyr) c.2999G>A (p.Cys1000Tyr) c.655+4722G>A (n.655+4722G>A) c.2930G>A (p.Cys977Tyr) c.2993G>A (p.Cys998Tyr) c.2981G>A (p.Cys994Tyr) | |
| 2 | g.144396478A>C | CA348704037 | ZEB2 | c.*2850T>G (n.*2850T>G) c.2224T>G (p.Cys742Gly) c.3001T>G (p.Cys1001Gly) n.2970T>G c.2665T>G (p.Cys889Gly) c.3076T>G (p.Cys1026Gly) c.*2718T>G (n.*2718T>G) n.3101T>G c.85T>G (p.Cys29Gly) c.133T>G (p.Cys45Gly) c.532T>G (p.Cys178Gly) c.2998T>G (p.Cys1000Gly) c.655+4721T>G (n.655+4721T>G) c.2929T>G (p.Cys977Gly) c.2992T>G (p.Cys998Gly) c.2980T>G (p.Cys994Gly) | |
| 2 | g.144396478A>G | CA348704033 | ZEB2 | c.*2850T>C (n.*2850T>C) c.2224T>C (p.Cys742Arg) c.3001T>C (p.Cys1001Arg) n.2970T>C c.2665T>C (p.Cys889Arg) c.3076T>C (p.Cys1026Arg) c.*2718T>C (n.*2718T>C) n.3101T>C c.85T>C (p.Cys29Arg) c.133T>C (p.Cys45Arg) c.532T>C (p.Cys178Arg) c.2998T>C (p.Cys1000Arg) c.655+4721T>C (n.655+4721T>C) c.2929T>C (p.Cys977Arg) c.2992T>C (p.Cys998Arg) c.2980T>C (p.Cys994Arg) | |
| 2 | g.144396478A>T | CA348704036 | ZEB2 | c.*2850T>A (n.*2850T>A) c.2224T>A (p.Cys742Ser) c.3001T>A (p.Cys1001Ser) n.2970T>A c.2665T>A (p.Cys889Ser) c.3076T>A (p.Cys1026Ser) c.*2718T>A (n.*2718T>A) n.3101T>A c.85T>A (p.Cys29Ser) c.133T>A (p.Cys45Ser) c.532T>A (p.Cys178Ser) c.2998T>A (p.Cys1000Ser) c.655+4721T>A (n.655+4721T>A) c.2929T>A (p.Cys977Ser) c.2992T>A (p.Cys998Ser) c.2980T>A (p.Cys994Ser) | |
| 2 | g.144396479T>A | CA429217594 | ZEB2 | c.*2849A>T (n.*2849A>T) c.2223A>T (p.Ala741=) c.3000A>T (p.Ala1000=) n.2969A>T c.2664A>T (p.Ala888=) c.3075A>T (p.Ala1025=) c.*2717A>T (n.*2717A>T) n.3100A>T c.84A>T (p.Ala28=) c.132A>T (p.Ala44=) c.531A>T (p.Ala177=) c.2997A>T (p.Ala999=) c.655+4720A>T (n.655+4720A>T) c.2928A>T (p.Ala976=) c.2991A>T (p.Ala997=) c.2979A>T (p.Ala993=) | |
| 2 | g.144396479T>C | CA429217595 | ZEB2 | c.*2849A>G (n.*2849A>G) c.2223A>G (p.Ala741=) c.3000A>G (p.Ala1000=) n.2969A>G c.2664A>G (p.Ala888=) c.3075A>G (p.Ala1025=) c.*2717A>G (n.*2717A>G) n.3100A>G c.84A>G (p.Ala28=) c.132A>G (p.Ala44=) c.531A>G (p.Ala177=) c.2997A>G (p.Ala999=) c.655+4720A>G (n.655+4720A>G) c.2928A>G (p.Ala976=) c.2991A>G (p.Ala997=) c.2979A>G (p.Ala993=) | dbSNP |
| 2 | g.144396479T>G | CA429217596 | ZEB2 | c.*2849A>C (n.*2849A>C) c.2223A>C (p.Ala741=) c.3000A>C (p.Ala1000=) n.2969A>C c.2664A>C (p.Ala888=) c.3075A>C (p.Ala1025=) c.*2717A>C (n.*2717A>C) n.3100A>C c.84A>C (p.Ala28=) c.132A>C (p.Ala44=) c.531A>C (p.Ala177=) c.2997A>C (p.Ala999=) c.655+4720A>C (n.655+4720A>C) c.2928A>C (p.Ala976=) c.2991A>C (p.Ala997=) c.2979A>C (p.Ala993=) | gnomAD v4 |
| 2 | g.144396480G>A | CA348704041 | ZEB2 | c.*2848C>T (n.*2848C>T) c.2222C>T (p.Ala741Val) c.2999C>T (p.Ala1000Val) n.2968C>T c.2663C>T (p.Ala888Val) c.3074C>T (p.Ala1025Val) c.*2716C>T (n.*2716C>T) n.3099C>T c.83C>T (p.Ala28Val) c.131C>T (p.Ala44Val) c.530C>T (p.Ala177Val) c.2996C>T (p.Ala999Val) c.655+4719C>T (n.655+4719C>T) c.2927C>T (p.Ala976Val) c.2990C>T (p.Ala997Val) c.2978C>T (p.Ala993Val) | |
| 2 | g.144396480G>C | CA348704042 | ZEB2 | c.*2848C>G (n.*2848C>G) c.2222C>G (p.Ala741Gly) c.2999C>G (p.Ala1000Gly) n.2968C>G c.2663C>G (p.Ala888Gly) c.3074C>G (p.Ala1025Gly) c.*2716C>G (n.*2716C>G) n.3099C>G c.83C>G (p.Ala28Gly) c.131C>G (p.Ala44Gly) c.530C>G (p.Ala177Gly) c.2996C>G (p.Ala999Gly) c.655+4719C>G (n.655+4719C>G) c.2927C>G (p.Ala976Gly) c.2990C>G (p.Ala997Gly) c.2978C>G (p.Ala993Gly) | |
| 2 | g.144396480G>T | CA348704043 | ZEB2 | c.*2848C>A (n.*2848C>A) c.2222C>A (p.Ala741Glu) c.2999C>A (p.Ala1000Glu) n.2968C>A c.2663C>A (p.Ala888Glu) c.3074C>A (p.Ala1025Glu) c.*2716C>A (n.*2716C>A) n.3099C>A c.83C>A (p.Ala28Glu) c.131C>A (p.Ala44Glu) c.530C>A (p.Ala177Glu) c.2996C>A (p.Ala999Glu) c.655+4719C>A (n.655+4719C>A) c.2927C>A (p.Ala976Glu) c.2990C>A (p.Ala997Glu) c.2978C>A (p.Ala993Glu) | |
| 2 | g.144396481C>A | CA348704044 | ZEB2 | c.*2847G>T (n.*2847G>T) c.2221G>T (p.Ala741Ser) c.2998G>T (p.Ala1000Ser) n.2967G>T c.2662G>T (p.Ala888Ser) c.3073G>T (p.Ala1025Ser) c.*2715G>T (n.*2715G>T) n.3098G>T c.82G>T (p.Ala28Ser) c.130G>T (p.Ala44Ser) c.529G>T (p.Ala177Ser) c.2995G>T (p.Ala999Ser) c.655+4718G>T (n.655+4718G>T) c.2926G>T (p.Ala976Ser) c.2989G>T (p.Ala997Ser) c.2977G>T (p.Ala993Ser) | |
| 2 | g.144396481C>G | CA348704048 | ZEB2 | c.*2847G>C (n.*2847G>C) c.2221G>C (p.Ala741Pro) c.2998G>C (p.Ala1000Pro) n.2967G>C c.2662G>C (p.Ala888Pro) c.3073G>C (p.Ala1025Pro) c.*2715G>C (n.*2715G>C) n.3098G>C c.82G>C (p.Ala28Pro) c.130G>C (p.Ala44Pro) c.529G>C (p.Ala177Pro) c.2995G>C (p.Ala999Pro) c.655+4718G>C (n.655+4718G>C) c.2926G>C (p.Ala976Pro) c.2989G>C (p.Ala997Pro) c.2977G>C (p.Ala993Pro) | gnomAD v4 |
| 2 | g.144396481C>T | CA348704056 | ZEB2 | c.*2847G>A (n.*2847G>A) c.2221G>A (p.Ala741Thr) c.2998G>A (p.Ala1000Thr) n.2967G>A c.2662G>A (p.Ala888Thr) c.3073G>A (p.Ala1025Thr) c.*2715G>A (n.*2715G>A) n.3098G>A c.82G>A (p.Ala28Thr) c.130G>A (p.Ala44Thr) c.529G>A (p.Ala177Thr) c.2995G>A (p.Ala999Thr) c.655+4718G>A (n.655+4718G>A) c.2926G>A (p.Ala976Thr) c.2989G>A (p.Ala997Thr) c.2977G>A (p.Ala993Thr) | |
| 2 | g.144396482A= | CA1294884080 | ZEB2 | c.*2846T= (n.*2846T=) c.2220T= (p.Tyr740=) c.2997T= (p.Tyr999=) n.2966T= c.2661T= (p.Tyr887=) c.3072T= (p.Tyr1024=) c.*2714T= (n.*2714T=) n.3097T= c.81T= (p.Tyr27=) c.129T= (p.Tyr43=) c.528T= (p.Tyr176=) c.2994T= (p.Tyr998=) c.655+4717T= (n.655+4717T=) c.2925T= (p.Tyr975=) c.2988T= (p.Tyr996=) c.2976T= (p.Tyr992=) | |
| 2 | g.144396482A>C | CA348704061 | ZEB2 | c.*2846T>G (n.*2846T>G) c.2220T>G (p.Tyr740Ter) c.2997T>G (p.Tyr999Ter) n.2966T>G c.2661T>G (p.Tyr887Ter) c.3072T>G (p.Tyr1024Ter) c.*2714T>G (n.*2714T>G) n.3097T>G c.81T>G (p.Tyr27Ter) c.129T>G (p.Tyr43Ter) c.528T>G (p.Tyr176Ter) c.2994T>G (p.Tyr998Ter) c.655+4717T>G (n.655+4717T>G) c.2925T>G (p.Tyr975Ter) c.2988T>G (p.Tyr996Ter) c.2976T>G (p.Tyr992Ter) | |
| 2 | g.144396482A>G | CA429217598 | ZEB2 | c.*2846T>C (n.*2846T>C) c.2220T>C (p.Tyr740=) c.2997T>C (p.Tyr999=) n.2966T>C c.2661T>C (p.Tyr887=) c.3072T>C (p.Tyr1024=) c.*2714T>C (n.*2714T>C) n.3097T>C c.81T>C (p.Tyr27=) c.129T>C (p.Tyr43=) c.528T>C (p.Tyr176=) c.2994T>C (p.Tyr998=) c.655+4717T>C (n.655+4717T>C) c.2925T>C (p.Tyr975=) c.2988T>C (p.Tyr996=) c.2976T>C (p.Tyr992=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144396482A>T | CA348704063 | ZEB2 | c.*2846T>A (n.*2846T>A) c.2220T>A (p.Tyr740Ter) c.2997T>A (p.Tyr999Ter) n.2966T>A c.2661T>A (p.Tyr887Ter) c.3072T>A (p.Tyr1024Ter) c.*2714T>A (n.*2714T>A) n.3097T>A c.81T>A (p.Tyr27Ter) c.129T>A (p.Tyr43Ter) c.528T>A (p.Tyr176Ter) c.2994T>A (p.Tyr998Ter) c.655+4717T>A (n.655+4717T>A) c.2925T>A (p.Tyr975Ter) c.2988T>A (p.Tyr996Ter) c.2976T>A (p.Tyr992Ter) | |
| 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) |