| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144389731_144389749del | CA429441174 | ZEB2 | c.*3197_*3215del (n.*3197_*3215del) c.2571_2589del (p.Ile857MetfsTer?) c.3348_3366del (p.Ile1116MetfsTer?) c.3236_3254del (p.Leu1079Ter) n.3317_3335del c.3012_3030del (p.Ile1004MetfsTer?) c.3423_3441del (p.Ile1141MetfsTer?) c.*3065_*3083del (n.*3065_*3083del) n.3448_3466del c.151+6664_151+6682del (n.151+6664_151+6682del) c.568_586del (n.568_586del) c.879_897del (p.Ile293MetfsTer?) c.3345_3363del (p.Ile1115MetfsTer?) c.656-866_656-848del (n.656-866_656-848del) c.3276_3294del (p.Ile1092MetfsTer?) c.3339_3357del (p.Ile1113MetfsTer?) c.3327_3345del (p.Ile1109MetfsTer?) | |
| 2 | g.144389731_144389737delinsGAGTACC | CA1294881312 | ZEB2 | c.*3208_*3214delinsGGTACTC (n.*3208_*3214delinsGGTACTC) c.2582_2588delinsGGTACTC (p.Gly861=) c.3359_3365delinsGGTACTC (p.Gly1120=) c.3247_3253delinsGGTACTC (p.Gly1083=) n.3328_3334delinsGGTACTC c.3023_3029delinsGGTACTC (p.Gly1008=) c.3434_3440delinsGGTACTC (p.Gly1145=) c.*3076_*3082delinsGGTACTC (n.*3076_*3082delinsGGTACTC) n.3459_3465delinsGGTACTC c.151+6675_151+6681delinsGGTACTC (n.151+6675_151+6681delinsGGTACTC) c.579_585delinsGGTACTC (n.579_585delinsGGTACTC) c.890_896delinsGGTACTC (p.Gly297=) c.3356_3362delinsGGTACTC (p.Gly1119=) c.656-855_656-849delinsGGTACTC (n.656-855_656-849delinsGGTACTC) c.3287_3293delinsGGTACTC (p.Gly1096=) c.3350_3356delinsGGTACTC (p.Gly1117=) c.3338_3344delinsGGTACTC (p.Gly1113=) | |
| 2 | g.144389732A>C | CA348699485 | ZEB2 | c.*3213T>G (n.*3213T>G) c.2587T>G (p.Ser863Ala) c.3364T>G (p.Ser1122Ala) c.3252T>G (p.Thr1084=) n.3333T>G c.3028T>G (p.Ser1010Ala) c.3439T>G (p.Ser1147Ala) c.*3081T>G (n.*3081T>G) n.3464T>G c.151+6680T>G (n.151+6680T>G) c.584T>G (n.584T>G) c.895T>G (p.Ser299Ala) c.3361T>G (p.Ser1121Ala) c.656-850T>G (n.656-850T>G) c.3292T>G (p.Ser1098Ala) c.3355T>G (p.Ser1119Ala) c.3343T>G (p.Ser1115Ala) | |
| 2 | g.144389732A>G | CA348699486 | ZEB2 | c.*3213T>C (n.*3213T>C) c.2587T>C (p.Ser863Pro) c.3364T>C (p.Ser1122Pro) c.3252T>C (p.Thr1084=) n.3333T>C c.3028T>C (p.Ser1010Pro) c.3439T>C (p.Ser1147Pro) c.*3081T>C (n.*3081T>C) n.3464T>C c.151+6680T>C (n.151+6680T>C) c.584T>C (n.584T>C) c.895T>C (p.Ser299Pro) c.3361T>C (p.Ser1121Pro) c.656-850T>C (n.656-850T>C) c.3292T>C (p.Ser1098Pro) c.3355T>C (p.Ser1119Pro) c.3343T>C (p.Ser1115Pro) | gnomAD v4 |
| 2 | g.144389732A>T | CA348699487 | ZEB2 | c.*3213T>A (n.*3213T>A) c.2587T>A (p.Ser863Thr) c.3364T>A (p.Ser1122Thr) c.3252T>A (p.Thr1084=) n.3333T>A c.3028T>A (p.Ser1010Thr) c.3439T>A (p.Ser1147Thr) c.*3081T>A (n.*3081T>A) n.3464T>A c.151+6680T>A (n.151+6680T>A) c.584T>A (n.584T>A) c.895T>A (p.Ser299Thr) c.3361T>A (p.Ser1121Thr) c.656-850T>A (n.656-850T>A) c.3292T>A (p.Ser1098Thr) c.3355T>A (p.Ser1119Thr) c.3343T>A (p.Ser1115Thr) | |
| 2 | g.144389732_144389737delinsCATTA | CA267213 | ZEB2 | c.*3208_*3213delinsTAATG (n.*3208_*3213delinsTAATG) c.2582_2587delinsTAATG (p.Gly861ValfsTer?) c.3359_3364delinsTAATG (p.Gly1120ValfsTer?) c.3247_3252delinsTAATG (p.Gly1083Ter) n.3328_3333delinsTAATG c.3023_3028delinsTAATG (p.Gly1008ValfsTer?) c.3434_3439delinsTAATG (p.Gly1145ValfsTer?) c.*3076_*3081delinsTAATG (n.*3076_*3081delinsTAATG) n.3459_3464delinsTAATG c.151+6675_151+6680delinsTAATG (n.151+6675_151+6680delinsTAATG) c.579_584delinsTAATG (n.579_584delinsTAATG) c.890_895delinsTAATG (p.Gly297ValfsTer?) c.3356_3361delinsTAATG (p.Gly1119ValfsTer?) c.656-855_656-850delinsTAATG (n.656-855_656-850delinsTAATG) c.3287_3292delinsTAATG (p.Gly1096ValfsTer?) c.3350_3355delinsTAATG (p.Gly1117ValfsTer?) c.3338_3343delinsTAATG (p.Gly1113ValfsTer?) | ClinVar dbSNP |
| 2 | g.144389733G>A | CA1898122 | ZEB2 | c.*3212C>T (n.*3212C>T) c.2586C>T (p.Tyr862=) c.3363C>T (p.Tyr1121=) c.3251C>T (p.Thr1084Ile) n.3332C>T c.3027C>T (p.Tyr1009=) c.3438C>T (p.Tyr1146=) c.*3080C>T (n.*3080C>T) n.3463C>T c.151+6679C>T (n.151+6679C>T) c.583C>T (n.583C>T) c.894C>T (p.Tyr298=) c.3360C>T (p.Tyr1120=) c.656-851C>T (n.656-851C>T) c.3291C>T (p.Tyr1097=) c.3354C>T (p.Tyr1118=) c.3342C>T (p.Tyr1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144389733G>C | CA348699488 | ZEB2 | c.*3212C>G (n.*3212C>G) c.2586C>G (p.Tyr862Ter) c.3363C>G (p.Tyr1121Ter) c.3251C>G (p.Thr1084Ser) n.3332C>G c.3027C>G (p.Tyr1009Ter) c.3438C>G (p.Tyr1146Ter) c.*3080C>G (n.*3080C>G) n.3463C>G c.151+6679C>G (n.151+6679C>G) c.583C>G (n.583C>G) c.894C>G (p.Tyr298Ter) c.3360C>G (p.Tyr1120Ter) c.656-851C>G (n.656-851C>G) c.3291C>G (p.Tyr1097Ter) c.3354C>G (p.Tyr1118Ter) c.3342C>G (p.Tyr1114Ter) | |
| 2 | g.144389733G= | CA1294881313 | ZEB2 | c.*3212C= (n.*3212C=) c.2586C= (p.Tyr862=) c.3363C= (p.Tyr1121=) c.3251C= (p.Thr1084=) n.3332C= c.3027C= (p.Tyr1009=) c.3438C= (p.Tyr1146=) c.*3080C= (n.*3080C=) n.3463C= c.151+6679C= (n.151+6679C=) c.583C= (n.583C=) c.894C= (p.Tyr298=) c.3360C= (p.Tyr1120=) c.656-851C= (n.656-851C=) c.3291C= (p.Tyr1097=) c.3354C= (p.Tyr1118=) c.3342C= (p.Tyr1114=) | |
| 2 | g.144389733G>T | CA348699490 | ZEB2 | c.*3212C>A (n.*3212C>A) c.2586C>A (p.Tyr862Ter) c.3363C>A (p.Tyr1121Ter) c.3251C>A (p.Thr1084Asn) n.3332C>A c.3027C>A (p.Tyr1009Ter) c.3438C>A (p.Tyr1146Ter) c.*3080C>A (n.*3080C>A) n.3463C>A c.151+6679C>A (n.151+6679C>A) c.583C>A (n.583C>A) c.894C>A (p.Tyr298Ter) c.3360C>A (p.Tyr1120Ter) c.656-851C>A (n.656-851C>A) c.3291C>A (p.Tyr1097Ter) c.3354C>A (p.Tyr1118Ter) c.3342C>A (p.Tyr1114Ter) | |
| 2 | g.144389733_144389734insCAT | CA2577152071 | ZEB2 | c.*3211_*3212insATG (n.*3211_*3212insATG) c.2585_2586insATG (p.Tyr862Ter) c.3362_3363insATG (p.Tyr1121Ter) c.3250_3251insATG (p.Thr1084delinsAsnAla) n.3331_3332insATG c.3026_3027insATG (p.Tyr1009Ter) c.3437_3438insATG (p.Tyr1146Ter) c.*3079_*3080insATG (n.*3079_*3080insATG) n.3462_3463insATG c.151+6678_151+6679insATG (n.151+6678_151+6679insATG) c.582_583insATG (n.582_583insATG) c.893_894insATG (p.Tyr298Ter) c.3359_3360insATG (p.Tyr1120Ter) c.656-852_656-851insATG (n.656-852_656-851insATG) c.3290_3291insATG (p.Tyr1097Ter) c.3353_3354insATG (p.Tyr1118Ter) c.3341_3342insATG (p.Tyr1114Ter) | |
| 2 | g.144389734T>A | CA348699492 | ZEB2 | c.*3211A>T (n.*3211A>T) c.2585A>T (p.Tyr862Phe) c.3362A>T (p.Tyr1121Phe) c.3250A>T (p.Thr1084Ser) n.3331A>T c.3026A>T (p.Tyr1009Phe) c.3437A>T (p.Tyr1146Phe) c.*3079A>T (n.*3079A>T) n.3462A>T c.151+6678A>T (n.151+6678A>T) c.582A>T (n.582A>T) c.893A>T (p.Tyr298Phe) c.3359A>T (p.Tyr1120Phe) c.656-852A>T (n.656-852A>T) c.3290A>T (p.Tyr1097Phe) c.3353A>T (p.Tyr1118Phe) c.3341A>T (p.Tyr1114Phe) | |
| 2 | g.144389734T>C | CA348699494 | ZEB2 | c.*3211A>G (n.*3211A>G) c.2585A>G (p.Tyr862Cys) c.3362A>G (p.Tyr1121Cys) c.3250A>G (p.Thr1084Ala) n.3331A>G c.3026A>G (p.Tyr1009Cys) c.3437A>G (p.Tyr1146Cys) c.*3079A>G (n.*3079A>G) n.3462A>G c.151+6678A>G (n.151+6678A>G) c.582A>G (n.582A>G) c.893A>G (p.Tyr298Cys) c.3359A>G (p.Tyr1120Cys) c.656-852A>G (n.656-852A>G) c.3290A>G (p.Tyr1097Cys) c.3353A>G (p.Tyr1118Cys) c.3341A>G (p.Tyr1114Cys) | |
| 2 | g.144389734T>G | CA348699495 | ZEB2 | c.*3211A>C (n.*3211A>C) c.2585A>C (p.Tyr862Ser) c.3362A>C (p.Tyr1121Ser) c.3250A>C (p.Thr1084Pro) n.3331A>C c.3026A>C (p.Tyr1009Ser) c.3437A>C (p.Tyr1146Ser) c.*3079A>C (n.*3079A>C) n.3462A>C c.151+6678A>C (n.151+6678A>C) c.582A>C (n.582A>C) c.893A>C (p.Tyr298Ser) c.3359A>C (p.Tyr1120Ser) c.656-852A>C (n.656-852A>C) c.3290A>C (p.Tyr1097Ser) c.3353A>C (p.Tyr1118Ser) c.3341A>C (p.Tyr1114Ser) | |
| 2 | g.144389735A= | CA1294881314 | ZEB2 | c.*3210T= (n.*3210T=) c.2584T= (p.Tyr862=) c.3361T= (p.Tyr1121=) c.3249T= (p.Gly1083=) n.3330T= c.3025T= (p.Tyr1009=) c.3436T= (p.Tyr1146=) c.*3078T= (n.*3078T=) n.3461T= c.151+6677T= (n.151+6677T=) c.581T= (n.581T=) c.892T= (p.Tyr298=) c.3358T= (p.Tyr1120=) c.656-853T= (n.656-853T=) c.3289T= (p.Tyr1097=) c.3352T= (p.Tyr1118=) c.3340T= (p.Tyr1114=) | |
| 2 | g.144389735A>C | CA348699500 | ZEB2 | c.*3210T>G (n.*3210T>G) c.2584T>G (p.Tyr862Asp) c.3361T>G (p.Tyr1121Asp) c.3249T>G (p.Gly1083=) n.3330T>G c.3025T>G (p.Tyr1009Asp) c.3436T>G (p.Tyr1146Asp) c.*3078T>G (n.*3078T>G) n.3461T>G c.151+6677T>G (n.151+6677T>G) c.581T>G (n.581T>G) c.892T>G (p.Tyr298Asp) c.3358T>G (p.Tyr1120Asp) c.656-853T>G (n.656-853T>G) c.3289T>G (p.Tyr1097Asp) c.3352T>G (p.Tyr1118Asp) c.3340T>G (p.Tyr1114Asp) | |
| 2 | g.144389735A>G | CA348699499 | ZEB2 | c.*3210T>C (n.*3210T>C) c.2584T>C (p.Tyr862His) c.3361T>C (p.Tyr1121His) c.3249T>C (p.Gly1083=) n.3330T>C c.3025T>C (p.Tyr1009His) c.3436T>C (p.Tyr1146His) c.*3078T>C (n.*3078T>C) n.3461T>C c.151+6677T>C (n.151+6677T>C) c.581T>C (n.581T>C) c.892T>C (p.Tyr298His) c.3358T>C (p.Tyr1120His) c.656-853T>C (n.656-853T>C) c.3289T>C (p.Tyr1097His) c.3352T>C (p.Tyr1118His) c.3340T>C (p.Tyr1114His) | dbSNP |
| 2 | g.144389735A>T | CA1898123 | ZEB2 | c.*3210T>A (n.*3210T>A) c.2584T>A (p.Tyr862Asn) c.3361T>A (p.Tyr1121Asn) c.3249T>A (p.Gly1083=) n.3330T>A c.3025T>A (p.Tyr1009Asn) c.3436T>A (p.Tyr1146Asn) c.*3078T>A (n.*3078T>A) n.3461T>A c.151+6677T>A (n.151+6677T>A) c.581T>A (n.581T>A) c.892T>A (p.Tyr298Asn) c.3358T>A (p.Tyr1120Asn) c.656-853T>A (n.656-853T>A) c.3289T>A (p.Tyr1097Asn) c.3352T>A (p.Tyr1118Asn) c.3340T>A (p.Tyr1114Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144389736C>A | CA429441175 | ZEB2 | c.*3209G>T (n.*3209G>T) c.2583G>T (p.Gly861=) c.3360G>T (p.Gly1120=) c.3248G>T (p.Gly1083Val) n.3329G>T c.3024G>T (p.Gly1008=) c.3435G>T (p.Gly1145=) c.*3077G>T (n.*3077G>T) n.3460G>T c.151+6676G>T (n.151+6676G>T) c.580G>T (n.580G>T) c.891G>T (p.Gly297=) c.3357G>T (p.Gly1119=) c.656-854G>T (n.656-854G>T) c.3288G>T (p.Gly1096=) c.3351G>T (p.Gly1117=) c.3339G>T (p.Gly1113=) | COSMIC |
| 2 | g.144389736C>G | CA429441176 | ZEB2 | c.*3209G>C (n.*3209G>C) c.2583G>C (p.Gly861=) c.3360G>C (p.Gly1120=) c.3248G>C (p.Gly1083Ala) n.3329G>C c.3024G>C (p.Gly1008=) c.3435G>C (p.Gly1145=) c.*3077G>C (n.*3077G>C) n.3460G>C c.151+6676G>C (n.151+6676G>C) c.580G>C (n.580G>C) c.891G>C (p.Gly297=) c.3357G>C (p.Gly1119=) c.656-854G>C (n.656-854G>C) c.3288G>C (p.Gly1096=) c.3351G>C (p.Gly1117=) c.3339G>C (p.Gly1113=) | |
| 2 | g.144389736C>T | CA429441177 | ZEB2 | c.*3209G>A (n.*3209G>A) c.2583G>A (p.Gly861=) c.3360G>A (p.Gly1120=) c.3248G>A (p.Gly1083Asp) n.3329G>A c.3024G>A (p.Gly1008=) c.3435G>A (p.Gly1145=) c.*3077G>A (n.*3077G>A) n.3460G>A c.151+6676G>A (n.151+6676G>A) c.580G>A (n.580G>A) c.891G>A (p.Gly297=) c.3357G>A (p.Gly1119=) c.656-854G>A (n.656-854G>A) c.3288G>A (p.Gly1096=) c.3351G>A (p.Gly1117=) c.3339G>A (p.Gly1113=) | |
| 2 | g.144389737C>A | CA348699503 | ZEB2 | c.*3208G>T (n.*3208G>T) c.2582G>T (p.Gly861Val) c.3359G>T (p.Gly1120Val) c.3247G>T (p.Gly1083Cys) n.3328G>T c.3023G>T (p.Gly1008Val) c.3434G>T (p.Gly1145Val) c.*3076G>T (n.*3076G>T) n.3459G>T c.151+6675G>T (n.151+6675G>T) c.579G>T (n.579G>T) c.890G>T (p.Gly297Val) c.3356G>T (p.Gly1119Val) c.656-855G>T (n.656-855G>T) c.3287G>T (p.Gly1096Val) c.3350G>T (p.Gly1117Val) c.3338G>T (p.Gly1113Val) | gnomAD v4 |
| 2 | g.144389737C>G | CA348699504 | ZEB2 | c.*3208G>C (n.*3208G>C) c.2582G>C (p.Gly861Ala) c.3359G>C (p.Gly1120Ala) c.3247G>C (p.Gly1083Arg) n.3328G>C c.3023G>C (p.Gly1008Ala) c.3434G>C (p.Gly1145Ala) c.*3076G>C (n.*3076G>C) n.3459G>C c.151+6675G>C (n.151+6675G>C) c.579G>C (n.579G>C) c.890G>C (p.Gly297Ala) c.3356G>C (p.Gly1119Ala) c.656-855G>C (n.656-855G>C) c.3287G>C (p.Gly1096Ala) c.3350G>C (p.Gly1117Ala) c.3338G>C (p.Gly1113Ala) | |
| 2 | g.144389737C>T | CA348699505 | ZEB2 | c.*3208G>A (n.*3208G>A) c.2582G>A (p.Gly861Glu) c.3359G>A (p.Gly1120Glu) c.3247G>A (p.Gly1083Ser) n.3328G>A c.3023G>A (p.Gly1008Glu) c.3434G>A (p.Gly1145Glu) c.*3076G>A (n.*3076G>A) n.3459G>A c.151+6675G>A (n.151+6675G>A) c.579G>A (n.579G>A) c.890G>A (p.Gly297Glu) c.3356G>A (p.Gly1119Glu) c.656-855G>A (n.656-855G>A) c.3287G>A (p.Gly1096Glu) c.3350G>A (p.Gly1117Glu) c.3338G>A (p.Gly1113Glu) | |
| 2 | g.144389738C>A | CA348699506 | ZEB2 | c.*3207G>T (n.*3207G>T) c.2581G>T (p.Gly861Trp) c.3358G>T (p.Gly1120Trp) c.3246G>T (p.Arg1082Ser) n.3327G>T c.3022G>T (p.Gly1008Trp) c.3433G>T (p.Gly1145Trp) c.*3075G>T (n.*3075G>T) n.3458G>T c.151+6674G>T (n.151+6674G>T) c.578G>T (n.578G>T) c.889G>T (p.Gly297Trp) c.3355G>T (p.Gly1119Trp) c.656-856G>T (n.656-856G>T) c.3286G>T (p.Gly1096Trp) c.3349G>T (p.Gly1117Trp) c.3337G>T (p.Gly1113Trp) | |
| 2 | g.144389738C>G | CA348699508 | ZEB2 | c.*3207G>C (n.*3207G>C) c.2581G>C (p.Gly861Arg) c.3358G>C (p.Gly1120Arg) c.3246G>C (p.Arg1082Ser) n.3327G>C c.3022G>C (p.Gly1008Arg) c.3433G>C (p.Gly1145Arg) c.*3075G>C (n.*3075G>C) n.3458G>C c.151+6674G>C (n.151+6674G>C) c.578G>C (n.578G>C) c.889G>C (p.Gly297Arg) c.3355G>C (p.Gly1119Arg) c.656-856G>C (n.656-856G>C) c.3286G>C (p.Gly1096Arg) c.3349G>C (p.Gly1117Arg) c.3337G>C (p.Gly1113Arg) | |
| 2 | g.144389738C>T | CA348699509 | ZEB2 | c.*3207G>A (n.*3207G>A) c.2581G>A (p.Gly861Arg) c.3358G>A (p.Gly1120Arg) c.3246G>A (p.Arg1082=) n.3327G>A c.3022G>A (p.Gly1008Arg) c.3433G>A (p.Gly1145Arg) c.*3075G>A (n.*3075G>A) n.3458G>A c.151+6674G>A (n.151+6674G>A) c.578G>A (n.578G>A) c.889G>A (p.Gly297Arg) c.3355G>A (p.Gly1119Arg) c.656-856G>A (n.656-856G>A) c.3286G>A (p.Gly1096Arg) c.3349G>A (p.Gly1117Arg) c.3337G>A (p.Gly1113Arg) | |
| 2 | g.144389739C>A | CA348699510 | ZEB2 | c.*3206G>T (n.*3206G>T) c.2580G>T (p.Gln860His) c.3357G>T (p.Gln1119His) c.3245G>T (p.Arg1082Met) n.3326G>T c.3021G>T (p.Gln1007His) c.3432G>T (p.Gln1144His) c.*3074G>T (n.*3074G>T) n.3457G>T c.151+6673G>T (n.151+6673G>T) c.577G>T (n.577G>T) c.888G>T (p.Gln296His) c.3354G>T (p.Gln1118His) c.656-857G>T (n.656-857G>T) c.3285G>T (p.Gln1095His) c.3348G>T (p.Gln1116His) c.3336G>T (p.Gln1112His) | |
| 2 | g.144389739C= | CA1294881315 | ZEB2 | c.*3206G= (n.*3206G=) c.2580G= (p.Gln860=) c.3357G= (p.Gln1119=) c.3245G= (p.Arg1082=) n.3326G= c.3021G= (p.Gln1007=) c.3432G= (p.Gln1144=) c.*3074G= (n.*3074G=) n.3457G= c.151+6673G= (n.151+6673G=) c.577G= (n.577G=) c.888G= (p.Gln296=) c.3354G= (p.Gln1118=) c.656-857G= (n.656-857G=) c.3285G= (p.Gln1095=) c.3348G= (p.Gln1116=) c.3336G= (p.Gln1112=) | |
| 2 | g.144389739C>G | CA348699511 | ZEB2 | c.*3206G>C (n.*3206G>C) c.2580G>C (p.Gln860His) c.3357G>C (p.Gln1119His) c.3245G>C (p.Arg1082Thr) n.3326G>C c.3021G>C (p.Gln1007His) c.3432G>C (p.Gln1144His) c.*3074G>C (n.*3074G>C) n.3457G>C c.151+6673G>C (n.151+6673G>C) c.577G>C (n.577G>C) c.888G>C (p.Gln296His) c.3354G>C (p.Gln1118His) c.656-857G>C (n.656-857G>C) c.3285G>C (p.Gln1095His) c.3348G>C (p.Gln1116His) c.3336G>C (p.Gln1112His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144389739C>T | CA429441178 | ZEB2 | c.*3206G>A (n.*3206G>A) c.2580G>A (p.Gln860=) c.3357G>A (p.Gln1119=) c.3245G>A (p.Arg1082Lys) n.3326G>A c.3021G>A (p.Gln1007=) c.3432G>A (p.Gln1144=) c.*3074G>A (n.*3074G>A) n.3457G>A c.151+6673G>A (n.151+6673G>A) c.577G>A (n.577G>A) c.888G>A (p.Gln296=) c.3354G>A (p.Gln1118=) c.656-857G>A (n.656-857G>A) c.3285G>A (p.Gln1095=) c.3348G>A (p.Gln1116=) c.3336G>A (p.Gln1112=) | |
| 2 | g.144389740del | CA429441179 | ZEB2 | c.*3205del (n.*3205del) c.2579del (p.Gln860ArgfsTer?) c.3356del (p.Gln1119ArgfsTer?) c.3244del (p.Arg1082GlyfsTer4) n.3325del c.3020del (p.Gln1007ArgfsTer?) c.3431del (p.Gln1144ArgfsTer?) c.*3073del (n.*3073del) n.3456del c.151+6672del (n.151+6672del) c.576del (n.576del) c.887del (p.Gln296ArgfsTer?) c.3353del (p.Gln1118ArgfsTer?) c.656-858del (n.656-858del) c.3284del (p.Gln1095ArgfsTer?) c.3347del (p.Gln1116ArgfsTer?) c.3335del (p.Gln1112ArgfsTer?) | |
| 2 | g.144389740T>A | CA348699512 | ZEB2 | c.*3205A>T (n.*3205A>T) c.2579A>T (p.Gln860Leu) c.3356A>T (p.Gln1119Leu) c.3244A>T (p.Arg1082Trp) n.3325A>T c.3020A>T (p.Gln1007Leu) c.3431A>T (p.Gln1144Leu) c.*3073A>T (n.*3073A>T) n.3456A>T c.151+6672A>T (n.151+6672A>T) c.576A>T (n.576A>T) c.887A>T (p.Gln296Leu) c.3353A>T (p.Gln1118Leu) c.656-858A>T (n.656-858A>T) c.3284A>T (p.Gln1095Leu) c.3347A>T (p.Gln1116Leu) c.3335A>T (p.Gln1112Leu) | |
| 2 | g.144389740T>C | CA253288 | ZEB2 | c.*3205A>G (n.*3205A>G) c.2579A>G (p.Gln860Arg) c.3356A>G (p.Gln1119Arg) c.3244A>G (p.Arg1082Gly) n.3325A>G c.3020A>G (p.Gln1007Arg) c.3431A>G (p.Gln1144Arg) c.*3073A>G (n.*3073A>G) n.3456A>G c.151+6672A>G (n.151+6672A>G) c.576A>G (n.576A>G) c.887A>G (p.Gln296Arg) c.3353A>G (p.Gln1118Arg) c.656-858A>G (n.656-858A>G) c.3284A>G (p.Gln1095Arg) c.3347A>G (p.Gln1116Arg) c.3335A>G (p.Gln1112Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144389740T>G | CA348699513 | ZEB2 | c.*3205A>C (n.*3205A>C) c.2579A>C (p.Gln860Pro) c.3356A>C (p.Gln1119Pro) c.3244A>C (p.Arg1082=) n.3325A>C c.3020A>C (p.Gln1007Pro) c.3431A>C (p.Gln1144Pro) c.*3073A>C (n.*3073A>C) n.3456A>C c.151+6672A>C (n.151+6672A>C) c.576A>C (n.576A>C) c.887A>C (p.Gln296Pro) c.3353A>C (p.Gln1118Pro) c.656-858A>C (n.656-858A>C) c.3284A>C (p.Gln1095Pro) c.3347A>C (p.Gln1116Pro) c.3335A>C (p.Gln1112Pro) | |
| 2 | g.144389740T= | CA1294881316 | ZEB2 | c.*3205A= (n.*3205A=) c.2579A= (p.Gln860=) c.3356A= (p.Gln1119=) c.3244A= (p.Arg1082=) n.3325A= c.3020A= (p.Gln1007=) c.3431A= (p.Gln1144=) c.*3073A= (n.*3073A=) n.3456A= c.151+6672A= (n.151+6672A=) c.576A= (n.576A=) c.887A= (p.Gln296=) c.3353A= (p.Gln1118=) c.656-858A= (n.656-858A=) c.3284A= (p.Gln1095=) c.3347A= (p.Gln1116=) c.3335A= (p.Gln1112=) | |
| 2 | g.144389741G>A | CA348699516 | ZEB2 | c.*3204C>T (n.*3204C>T) c.2578C>T (p.Gln860Ter) c.3355C>T (p.Gln1119Ter) c.3243C>T (p.Leu1081=) n.3324C>T c.3019C>T (p.Gln1007Ter) c.3430C>T (p.Gln1144Ter) c.*3072C>T (n.*3072C>T) n.3455C>T c.151+6671C>T (n.151+6671C>T) c.575C>T (n.575C>T) c.886C>T (p.Gln296Ter) c.3352C>T (p.Gln1118Ter) c.656-859C>T (n.656-859C>T) c.3283C>T (p.Gln1095Ter) c.3346C>T (p.Gln1116Ter) c.3334C>T (p.Gln1112Ter) | COSMIC |
| 2 | g.144389741G>C | CA348699518 | ZEB2 | c.*3204C>G (n.*3204C>G) c.2578C>G (p.Gln860Glu) c.3355C>G (p.Gln1119Glu) c.3243C>G (p.Leu1081=) n.3324C>G c.3019C>G (p.Gln1007Glu) c.3430C>G (p.Gln1144Glu) c.*3072C>G (n.*3072C>G) n.3455C>G c.151+6671C>G (n.151+6671C>G) c.575C>G (n.575C>G) c.886C>G (p.Gln296Glu) c.3352C>G (p.Gln1118Glu) c.656-859C>G (n.656-859C>G) c.3283C>G (p.Gln1095Glu) c.3346C>G (p.Gln1116Glu) c.3334C>G (p.Gln1112Glu) | |
| 2 | g.144389741G>T | CA348699520 | ZEB2 | c.*3204C>A (n.*3204C>A) c.2578C>A (p.Gln860Lys) c.3355C>A (p.Gln1119Lys) c.3243C>A (p.Leu1081=) n.3324C>A c.3019C>A (p.Gln1007Lys) c.3430C>A (p.Gln1144Lys) c.*3072C>A (n.*3072C>A) n.3455C>A c.151+6671C>A (n.151+6671C>A) c.575C>A (n.575C>A) c.886C>A (p.Gln296Lys) c.3352C>A (p.Gln1118Lys) c.656-859C>A (n.656-859C>A) c.3283C>A (p.Gln1095Lys) c.3346C>A (p.Gln1116Lys) c.3334C>A (p.Gln1112Lys) | |
| 2 | g.144389742A>C | CA429441180 | ZEB2 | c.*3203T>G (n.*3203T>G) c.2577T>G (p.Pro859=) c.3354T>G (p.Pro1118=) c.3242T>G (p.Leu1081Arg) n.3323T>G c.3018T>G (p.Pro1006=) c.3429T>G (p.Pro1143=) c.*3071T>G (n.*3071T>G) n.3454T>G c.151+6670T>G (n.151+6670T>G) c.574T>G (n.574T>G) c.885T>G (p.Pro295=) c.3351T>G (p.Pro1117=) c.656-860T>G (n.656-860T>G) c.3282T>G (p.Pro1094=) c.3345T>G (p.Pro1115=) c.3333T>G (p.Pro1111=) | |
| 2 | g.144389742A>G | CA429441181 | ZEB2 | c.*3203T>C (n.*3203T>C) c.2577T>C (p.Pro859=) c.3354T>C (p.Pro1118=) c.3242T>C (p.Leu1081Pro) n.3323T>C c.3018T>C (p.Pro1006=) c.3429T>C (p.Pro1143=) c.*3071T>C (n.*3071T>C) n.3454T>C c.151+6670T>C (n.151+6670T>C) c.574T>C (n.574T>C) c.885T>C (p.Pro295=) c.3351T>C (p.Pro1117=) c.656-860T>C (n.656-860T>C) c.3282T>C (p.Pro1094=) c.3345T>C (p.Pro1115=) c.3333T>C (p.Pro1111=) | |
| 2 | g.144389742A>T | CA429441182 | ZEB2 | c.*3203T>A (n.*3203T>A) c.2577T>A (p.Pro859=) c.3354T>A (p.Pro1118=) c.3242T>A (p.Leu1081His) n.3323T>A c.3018T>A (p.Pro1006=) c.3429T>A (p.Pro1143=) c.*3071T>A (n.*3071T>A) n.3454T>A c.151+6670T>A (n.151+6670T>A) c.574T>A (n.574T>A) c.885T>A (p.Pro295=) c.3351T>A (p.Pro1117=) c.656-860T>A (n.656-860T>A) c.3282T>A (p.Pro1094=) c.3345T>A (p.Pro1115=) c.3333T>A (p.Pro1111=) | gnomAD v4 |
| 2 | g.144389743G>A | CA348699523 | ZEB2 | c.*3202C>T (n.*3202C>T) c.2576C>T (p.Pro859Leu) c.3353C>T (p.Pro1118Leu) c.3241C>T (p.Leu1081Phe) n.3322C>T c.3017C>T (p.Pro1006Leu) c.3428C>T (p.Pro1143Leu) c.*3070C>T (n.*3070C>T) n.3453C>T c.151+6669C>T (n.151+6669C>T) c.573C>T (n.573C>T) c.884C>T (p.Pro295Leu) c.3350C>T (p.Pro1117Leu) c.656-861C>T (n.656-861C>T) c.3281C>T (p.Pro1094Leu) c.3344C>T (p.Pro1115Leu) c.3332C>T (p.Pro1111Leu) | ClinVar dbSNP |
| 2 | g.144389743G>C | CA348699525 | ZEB2 | c.*3202C>G (n.*3202C>G) c.2576C>G (p.Pro859Arg) c.3353C>G (p.Pro1118Arg) c.3241C>G (p.Leu1081Val) n.3322C>G c.3017C>G (p.Pro1006Arg) c.3428C>G (p.Pro1143Arg) c.*3070C>G (n.*3070C>G) n.3453C>G c.151+6669C>G (n.151+6669C>G) c.573C>G (n.573C>G) c.884C>G (p.Pro295Arg) c.3350C>G (p.Pro1117Arg) c.656-861C>G (n.656-861C>G) c.3281C>G (p.Pro1094Arg) c.3344C>G (p.Pro1115Arg) c.3332C>G (p.Pro1111Arg) | |
| 2 | g.144389743G= | CA1294881317 | ZEB2 | c.*3202C= (n.*3202C=) c.2576C= (p.Pro859=) c.3353C= (p.Pro1118=) c.3241C= (p.Leu1081=) n.3322C= c.3017C= (p.Pro1006=) c.3428C= (p.Pro1143=) c.*3070C= (n.*3070C=) n.3453C= c.151+6669C= (n.151+6669C=) c.573C= (n.573C=) c.884C= (p.Pro295=) c.3350C= (p.Pro1117=) c.656-861C= (n.656-861C=) c.3281C= (p.Pro1094=) c.3344C= (p.Pro1115=) c.3332C= (p.Pro1111=) | |
| 2 | g.144389743G>T | CA1898124 | ZEB2 | c.*3202C>A (n.*3202C>A) c.2576C>A (p.Pro859His) c.3353C>A (p.Pro1118His) c.3241C>A (p.Leu1081Ile) n.3322C>A c.3017C>A (p.Pro1006His) c.3428C>A (p.Pro1143His) c.*3070C>A (n.*3070C>A) n.3453C>A c.151+6669C>A (n.151+6669C>A) c.573C>A (n.573C>A) c.884C>A (p.Pro295His) c.3350C>A (p.Pro1117His) c.656-861C>A (n.656-861C>A) c.3281C>A (p.Pro1094His) c.3344C>A (p.Pro1115His) c.3332C>A (p.Pro1111His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144389746del | CA2586969979 | ZEB2 | c.*3202del (n.*3202del) c.2576del (p.Pro859LeufsTer?) c.3353del (p.Pro1118LeufsTer?) c.3241del (p.Leu1081SerfsTer5) n.3322del c.3017del (p.Pro1006LeufsTer?) c.3428del (p.Pro1143LeufsTer?) c.*3070del (n.*3070del) n.3453del c.151+6669del (n.151+6669del) c.573del (n.573del) c.884del (p.Pro295LeufsTer?) c.3350del (p.Pro1117LeufsTer?) c.656-861del (n.656-861del) c.3281del (p.Pro1094LeufsTer?) c.3344del (p.Pro1115LeufsTer?) c.3332del (p.Pro1111LeufsTer?) | |
| 2 | g.144389744G>A | CA348699528 | ZEB2 | c.*3201C>T (n.*3201C>T) c.2575C>T (p.Pro859Ser) c.3352C>T (p.Pro1118Ser) c.3240C>T (p.Pro1080=) n.3321C>T c.3016C>T (p.Pro1006Ser) c.3427C>T (p.Pro1143Ser) c.*3069C>T (n.*3069C>T) n.3452C>T c.151+6668C>T (n.151+6668C>T) c.572C>T (n.572C>T) c.883C>T (p.Pro295Ser) c.3349C>T (p.Pro1117Ser) c.656-862C>T (n.656-862C>T) c.3280C>T (p.Pro1094Ser) c.3343C>T (p.Pro1115Ser) c.3331C>T (p.Pro1111Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144389744G>C | CA348699529 | ZEB2 | c.*3201C>G (n.*3201C>G) c.2575C>G (p.Pro859Ala) c.3352C>G (p.Pro1118Ala) c.3240C>G (p.Pro1080=) n.3321C>G c.3016C>G (p.Pro1006Ala) c.3427C>G (p.Pro1143Ala) c.*3069C>G (n.*3069C>G) n.3452C>G c.151+6668C>G (n.151+6668C>G) c.572C>G (n.572C>G) c.883C>G (p.Pro295Ala) c.3349C>G (p.Pro1117Ala) c.656-862C>G (n.656-862C>G) c.3280C>G (p.Pro1094Ala) c.3343C>G (p.Pro1115Ala) c.3331C>G (p.Pro1111Ala) | |
| 2 | g.144389744G>T | CA348699531 | ZEB2 | c.*3201C>A (n.*3201C>A) c.2575C>A (p.Pro859Thr) c.3352C>A (p.Pro1118Thr) c.3240C>A (p.Pro1080=) n.3321C>A c.3016C>A (p.Pro1006Thr) c.3427C>A (p.Pro1143Thr) c.*3069C>A (n.*3069C>A) n.3452C>A c.151+6668C>A (n.151+6668C>A) c.572C>A (n.572C>A) c.883C>A (p.Pro295Thr) c.3349C>A (p.Pro1117Thr) c.656-862C>A (n.656-862C>A) c.3280C>A (p.Pro1094Thr) c.3343C>A (p.Pro1115Thr) c.3331C>A (p.Pro1111Thr) |