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.144398694_144398697delinsTATA | CA1294884995 | ZEB2 | c.*2339_*2342delinsTATA (n.*2339_*2342delinsTATA) c.1713_1716delinsTATA (p.Ile571=) c.2490_2493delinsTATA (p.Ile830=) n.2459_2462delinsTATA c.2154_2157delinsTATA (p.Ile718=) c.2565_2568delinsTATA (p.Ile855=) c.*2207_*2210delinsTATA (n.*2207_*2210delinsTATA) n.2590_2593delinsTATA c.21_24delinsTATA (p.Ile7=) c.2487_2490delinsTATA (p.Ile829=) c.655+2502_655+2505delinsTATA (n.655+2502_655+2505delinsTATA) c.1168-769_1168-766delinsTATA (n.1168-769_1168-766delinsTATA) c.2418_2421delinsTATA (p.Ile806=) c.2481_2484delinsTATA (p.Ile827=) c.2469_2472delinsTATA (p.Ile823=) | |
| 2 | g.144398698_144398700del | CA537029219 | ZEB2 | c.*2339_*2341del (n.*2339_*2341del) c.1713_1715del (p.Ile572del) c.2490_2492del (p.Ile831del) n.2459_2461del c.2154_2156del (p.Ile719del) c.2565_2567del (p.Ile856del) c.*2207_*2209del (n.*2207_*2209del) n.2590_2592del c.21_23del (p.Ile8del) c.2487_2489del (p.Ile830del) c.655+2502_655+2504del (n.655+2502_655+2504del) c.1168-769_1168-767del (n.1168-769_1168-767del) c.2418_2420del (p.Ile807del) c.2481_2483del (p.Ile828del) c.2469_2471del (p.Ile824del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144398697A= | CA1294884998 | ZEB2 | c.*2339T= (n.*2339T=) c.1713T= (p.Ile571=) c.2490T= (p.Ile830=) n.2459T= c.2154T= (p.Ile718=) c.2565T= (p.Ile855=) c.*2207T= (n.*2207T=) n.2590T= c.21T= (p.Ile7=) c.2487T= (p.Ile829=) c.655+2502T= (n.655+2502T=) c.1168-769T= (n.1168-769T=) c.2418T= (p.Ile806=) c.2481T= (p.Ile827=) c.2469T= (p.Ile823=) | |
| 2 | g.144398697A>C | CA348708161 | ZEB2 | c.*2339T>G (n.*2339T>G) c.1713T>G (p.Ile571Met) c.2490T>G (p.Ile830Met) n.2459T>G c.2154T>G (p.Ile718Met) c.2565T>G (p.Ile855Met) c.*2207T>G (n.*2207T>G) n.2590T>G c.21T>G (p.Ile7Met) c.2487T>G (p.Ile829Met) c.655+2502T>G (n.655+2502T>G) c.1168-769T>G (n.1168-769T>G) c.2418T>G (p.Ile806Met) c.2481T>G (p.Ile827Met) c.2469T>G (p.Ile823Met) | |
| 2 | g.144398697A>G | CA1898243 | ZEB2 | c.*2339T>C (n.*2339T>C) c.1713T>C (p.Ile571=) c.2490T>C (p.Ile830=) n.2459T>C c.2154T>C (p.Ile718=) c.2565T>C (p.Ile855=) c.*2207T>C (n.*2207T>C) n.2590T>C c.21T>C (p.Ile7=) c.2487T>C (p.Ile829=) c.655+2502T>C (n.655+2502T>C) c.1168-769T>C (n.1168-769T>C) c.2418T>C (p.Ile806=) c.2481T>C (p.Ile827=) c.2469T>C (p.Ile823=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144398697A>T | CA429445765 | ZEB2 | c.*2339T>A (n.*2339T>A) c.1713T>A (p.Ile571=) c.2490T>A (p.Ile830=) n.2459T>A c.2154T>A (p.Ile718=) c.2565T>A (p.Ile855=) c.*2207T>A (n.*2207T>A) n.2590T>A c.21T>A (p.Ile7=) c.2487T>A (p.Ile829=) c.655+2502T>A (n.655+2502T>A) c.1168-769T>A (n.1168-769T>A) c.2418T>A (p.Ile806=) c.2481T>A (p.Ile827=) c.2469T>A (p.Ile823=) | |
| 2 | g.144398698A>C | CA348708162 | ZEB2 | c.*2338T>G (n.*2338T>G) c.1712T>G (p.Ile571Ser) c.2489T>G (p.Ile830Ser) n.2458T>G c.2153T>G (p.Ile718Ser) c.2564T>G (p.Ile855Ser) c.*2206T>G (n.*2206T>G) n.2589T>G c.20T>G (p.Ile7Ser) c.2486T>G (p.Ile829Ser) c.655+2501T>G (n.655+2501T>G) c.1168-770T>G (n.1168-770T>G) c.2417T>G (p.Ile806Ser) c.2480T>G (p.Ile827Ser) c.2468T>G (p.Ile823Ser) | |
| 2 | g.144398698A>G | CA348708163 | ZEB2 | c.*2338T>C (n.*2338T>C) c.1712T>C (p.Ile571Thr) c.2489T>C (p.Ile830Thr) n.2458T>C c.2153T>C (p.Ile718Thr) c.2564T>C (p.Ile855Thr) c.*2206T>C (n.*2206T>C) n.2589T>C c.20T>C (p.Ile7Thr) c.2486T>C (p.Ile829Thr) c.655+2501T>C (n.655+2501T>C) c.1168-770T>C (n.1168-770T>C) c.2417T>C (p.Ile806Thr) c.2480T>C (p.Ile827Thr) c.2468T>C (p.Ile823Thr) | |
| 2 | g.144398698A>T | CA348708164 | ZEB2 | c.*2338T>A (n.*2338T>A) c.1712T>A (p.Ile571Asn) c.2489T>A (p.Ile830Asn) n.2458T>A c.2153T>A (p.Ile718Asn) c.2564T>A (p.Ile855Asn) c.*2206T>A (n.*2206T>A) n.2589T>A c.20T>A (p.Ile7Asn) c.2486T>A (p.Ile829Asn) c.655+2501T>A (n.655+2501T>A) c.1168-770T>A (n.1168-770T>A) c.2417T>A (p.Ile806Asn) c.2480T>A (p.Ile827Asn) c.2468T>A (p.Ile823Asn) | |
| 2 | g.144398699_144398700del | CA2586970087 | ZEB2 | c.*2337_*2338del (n.*2337_*2338del) c.1711_1712del (p.Ile571TyrfsTer10) c.2488_2489del (p.Ile830TyrfsTer10) n.2457_2458del c.2152_2153del (p.Ile718TyrfsTer10) c.2563_2564del (p.Ile855TyrfsTer10) c.*2205_*2206del (n.*2205_*2206del) n.2588_2589del c.19_20del (p.Ile7TyrfsTer10) c.2485_2486del (p.Ile829TyrfsTer10) c.655+2500_655+2501del (n.655+2500_655+2501del) c.1168-771_1168-770del (n.1168-771_1168-770del) c.2416_2417del (p.Ile806TyrfsTer10) c.2479_2480del (p.Ile827TyrfsTer10) c.2467_2468del (p.Ile823TyrfsTer10) | |
| 2 | g.144398699T>A | CA348708167 | ZEB2 | c.*2337A>T (n.*2337A>T) c.1711A>T (p.Ile571Phe) c.2488A>T (p.Ile830Phe) n.2457A>T c.2152A>T (p.Ile718Phe) c.2563A>T (p.Ile855Phe) c.*2205A>T (n.*2205A>T) n.2588A>T c.19A>T (p.Ile7Phe) c.2485A>T (p.Ile829Phe) c.655+2500A>T (n.655+2500A>T) c.1168-771A>T (n.1168-771A>T) c.2416A>T (p.Ile806Phe) c.2479A>T (p.Ile827Phe) c.2467A>T (p.Ile823Phe) | |
| 2 | g.144398699T>C | CA348708165 | ZEB2 | c.*2337A>G (n.*2337A>G) c.1711A>G (p.Ile571Val) c.2488A>G (p.Ile830Val) n.2457A>G c.2152A>G (p.Ile718Val) c.2563A>G (p.Ile855Val) c.*2205A>G (n.*2205A>G) n.2588A>G c.19A>G (p.Ile7Val) c.2485A>G (p.Ile829Val) c.655+2500A>G (n.655+2500A>G) c.1168-771A>G (n.1168-771A>G) c.2416A>G (p.Ile806Val) c.2479A>G (p.Ile827Val) c.2467A>G (p.Ile823Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144398699T>G | CA348708166 | ZEB2 | c.*2337A>C (n.*2337A>C) c.1711A>C (p.Ile571Leu) c.2488A>C (p.Ile830Leu) n.2457A>C c.2152A>C (p.Ile718Leu) c.2563A>C (p.Ile855Leu) c.*2205A>C (n.*2205A>C) n.2588A>C c.19A>C (p.Ile7Leu) c.2485A>C (p.Ile829Leu) c.655+2500A>C (n.655+2500A>C) c.1168-771A>C (n.1168-771A>C) c.2416A>C (p.Ile806Leu) c.2479A>C (p.Ile827Leu) c.2467A>C (p.Ile823Leu) | |
| 2 | g.144398699T= | CA1294884999 | ZEB2 | c.*2337A= (n.*2337A=) c.1711A= (p.Ile571=) c.2488A= (p.Ile830=) n.2457A= c.2152A= (p.Ile718=) c.2563A= (p.Ile855=) c.*2205A= (n.*2205A=) n.2588A= c.19A= (p.Ile7=) c.2485A= (p.Ile829=) c.655+2500A= (n.655+2500A=) c.1168-771A= (n.1168-771A=) c.2416A= (p.Ile806=) c.2479A= (p.Ile827=) c.2467A= (p.Ile823=) | |
| 2 | g.144398700A>C | CA348708168 | ZEB2 | c.*2336T>G (n.*2336T>G) c.1710T>G (p.Ser570Arg) c.2487T>G (p.Ser829Arg) n.2456T>G c.2151T>G (p.Ser717Arg) c.2562T>G (p.Ser854Arg) c.*2204T>G (n.*2204T>G) n.2587T>G c.18T>G (p.Ser6Arg) c.2484T>G (p.Ser828Arg) c.655+2499T>G (n.655+2499T>G) c.1168-772T>G (n.1168-772T>G) c.2415T>G (p.Ser805Arg) c.2478T>G (p.Ser826Arg) c.2466T>G (p.Ser822Arg) | |
| 2 | g.144398700A>G | CA429445773 | ZEB2 | c.*2336T>C (n.*2336T>C) c.1710T>C (p.Ser570=) c.2487T>C (p.Ser829=) n.2456T>C c.2151T>C (p.Ser717=) c.2562T>C (p.Ser854=) c.*2204T>C (n.*2204T>C) n.2587T>C c.18T>C (p.Ser6=) c.2484T>C (p.Ser828=) c.655+2499T>C (n.655+2499T>C) c.1168-772T>C (n.1168-772T>C) c.2415T>C (p.Ser805=) c.2478T>C (p.Ser826=) c.2466T>C (p.Ser822=) | |
| 2 | g.144398700A>T | CA348708169 | ZEB2 | c.*2336T>A (n.*2336T>A) c.1710T>A (p.Ser570Arg) c.2487T>A (p.Ser829Arg) n.2456T>A c.2151T>A (p.Ser717Arg) c.2562T>A (p.Ser854Arg) c.*2204T>A (n.*2204T>A) n.2587T>A c.18T>A (p.Ser6Arg) c.2484T>A (p.Ser828Arg) c.655+2499T>A (n.655+2499T>A) c.1168-772T>A (n.1168-772T>A) c.2415T>A (p.Ser805Arg) c.2478T>A (p.Ser826Arg) c.2466T>A (p.Ser822Arg) | |
| 2 | g.144398701C>A | CA348708170 | ZEB2 | c.*2335G>T (n.*2335G>T) c.1709G>T (p.Ser570Ile) c.2486G>T (p.Ser829Ile) n.2455G>T c.2150G>T (p.Ser717Ile) c.2561G>T (p.Ser854Ile) c.*2203G>T (n.*2203G>T) n.2586G>T c.17G>T (p.Ser6Ile) c.2483G>T (p.Ser828Ile) c.655+2498G>T (n.655+2498G>T) c.1168-773G>T (n.1168-773G>T) c.2414G>T (p.Ser805Ile) c.2477G>T (p.Ser826Ile) c.2465G>T (p.Ser822Ile) | |
| 2 | g.144398701C= | CA1294885000 | ZEB2 | c.*2335G= (n.*2335G=) c.1709G= (p.Ser570=) c.2486G= (p.Ser829=) n.2455G= c.2150G= (p.Ser717=) c.2561G= (p.Ser854=) c.*2203G= (n.*2203G=) n.2586G= c.17G= (p.Ser6=) c.2483G= (p.Ser828=) c.655+2498G= (n.655+2498G=) c.1168-773G= (n.1168-773G=) c.2414G= (p.Ser805=) c.2477G= (p.Ser826=) c.2465G= (p.Ser822=) | |
| 2 | g.144398701C>G | CA348708171 | ZEB2 | c.*2335G>C (n.*2335G>C) c.1709G>C (p.Ser570Thr) c.2486G>C (p.Ser829Thr) n.2455G>C c.2150G>C (p.Ser717Thr) c.2561G>C (p.Ser854Thr) c.*2203G>C (n.*2203G>C) n.2586G>C c.17G>C (p.Ser6Thr) c.2483G>C (p.Ser828Thr) c.655+2498G>C (n.655+2498G>C) c.1168-773G>C (n.1168-773G>C) c.2414G>C (p.Ser805Thr) c.2477G>C (p.Ser826Thr) c.2465G>C (p.Ser822Thr) | |
| 2 | g.144398701C>T | CA297609 | ZEB2 | c.*2335G>A (n.*2335G>A) c.1709G>A (p.Ser570Asn) c.2486G>A (p.Ser829Asn) n.2455G>A c.2150G>A (p.Ser717Asn) c.2561G>A (p.Ser854Asn) c.*2203G>A (n.*2203G>A) n.2586G>A c.17G>A (p.Ser6Asn) c.2483G>A (p.Ser828Asn) c.655+2498G>A (n.655+2498G>A) c.1168-773G>A (n.1168-773G>A) c.2414G>A (p.Ser805Asn) c.2477G>A (p.Ser826Asn) c.2465G>A (p.Ser822Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144398702T>A | CA348708172 | ZEB2 | c.*2334A>T (n.*2334A>T) c.1708A>T (p.Ser570Cys) c.2485A>T (p.Ser829Cys) n.2454A>T c.2149A>T (p.Ser717Cys) c.2560A>T (p.Ser854Cys) c.*2202A>T (n.*2202A>T) n.2585A>T c.16A>T (p.Ser6Cys) c.2482A>T (p.Ser828Cys) c.655+2497A>T (n.655+2497A>T) c.1168-774A>T (n.1168-774A>T) c.2413A>T (p.Ser805Cys) c.2476A>T (p.Ser826Cys) c.2464A>T (p.Ser822Cys) | |
| 2 | g.144398702T>C | CA348708173 | ZEB2 | c.*2334A>G (n.*2334A>G) c.1708A>G (p.Ser570Gly) c.2485A>G (p.Ser829Gly) n.2454A>G c.2149A>G (p.Ser717Gly) c.2560A>G (p.Ser854Gly) c.*2202A>G (n.*2202A>G) n.2585A>G c.16A>G (p.Ser6Gly) c.2482A>G (p.Ser828Gly) c.655+2497A>G (n.655+2497A>G) c.1168-774A>G (n.1168-774A>G) c.2413A>G (p.Ser805Gly) c.2476A>G (p.Ser826Gly) c.2464A>G (p.Ser822Gly) | gnomAD v4 |
| 2 | g.144398702T>G | CA348708174 | ZEB2 | c.*2334A>C (n.*2334A>C) c.1708A>C (p.Ser570Arg) c.2485A>C (p.Ser829Arg) n.2454A>C c.2149A>C (p.Ser717Arg) c.2560A>C (p.Ser854Arg) c.*2202A>C (n.*2202A>C) n.2585A>C c.16A>C (p.Ser6Arg) c.2482A>C (p.Ser828Arg) c.655+2497A>C (n.655+2497A>C) c.1168-774A>C (n.1168-774A>C) c.2413A>C (p.Ser805Arg) c.2476A>C (p.Ser826Arg) c.2464A>C (p.Ser822Arg) | |
| 2 | g.144398703T>A | CA348708175 | ZEB2 | c.*2333A>T (n.*2333A>T) c.1707A>T (p.Lys569Asn) c.2484A>T (p.Lys828Asn) n.2453A>T c.2148A>T (p.Lys716Asn) c.2559A>T (p.Lys853Asn) c.*2201A>T (n.*2201A>T) n.2584A>T c.15A>T (p.Lys5Asn) c.2481A>T (p.Lys827Asn) c.655+2496A>T (n.655+2496A>T) c.1168-775A>T (n.1168-775A>T) c.2412A>T (p.Lys804Asn) c.2475A>T (p.Lys825Asn) c.2463A>T (p.Lys821Asn) | |
| 2 | g.144398703T>C | CA429445783 | ZEB2 | c.*2333A>G (n.*2333A>G) c.1707A>G (p.Lys569=) c.2484A>G (p.Lys828=) n.2453A>G c.2148A>G (p.Lys716=) c.2559A>G (p.Lys853=) c.*2201A>G (n.*2201A>G) n.2584A>G c.15A>G (p.Lys5=) c.2481A>G (p.Lys827=) c.655+2496A>G (n.655+2496A>G) c.1168-775A>G (n.1168-775A>G) c.2412A>G (p.Lys804=) c.2475A>G (p.Lys825=) c.2463A>G (p.Lys821=) | gnomAD v4 |
| 2 | g.144398703T>G | CA348708176 | ZEB2 | c.*2333A>C (n.*2333A>C) c.1707A>C (p.Lys569Asn) c.2484A>C (p.Lys828Asn) n.2453A>C c.2148A>C (p.Lys716Asn) c.2559A>C (p.Lys853Asn) c.*2201A>C (n.*2201A>C) n.2584A>C c.15A>C (p.Lys5Asn) c.2481A>C (p.Lys827Asn) c.655+2496A>C (n.655+2496A>C) c.1168-775A>C (n.1168-775A>C) c.2412A>C (p.Lys804Asn) c.2475A>C (p.Lys825Asn) c.2463A>C (p.Lys821Asn) | |
| 2 | g.144398704T>A | CA348708177 | ZEB2 | c.*2332A>T (n.*2332A>T) c.1706A>T (p.Lys569Ile) c.2483A>T (p.Lys828Ile) n.2452A>T c.2147A>T (p.Lys716Ile) c.2558A>T (p.Lys853Ile) c.*2200A>T (n.*2200A>T) n.2583A>T c.14A>T (p.Lys5Ile) c.2480A>T (p.Lys827Ile) c.655+2495A>T (n.655+2495A>T) c.1168-776A>T (n.1168-776A>T) c.2411A>T (p.Lys804Ile) c.2474A>T (p.Lys825Ile) c.2462A>T (p.Lys821Ile) | |
| 2 | g.144398704T>C | CA348708178 | ZEB2 | c.*2332A>G (n.*2332A>G) c.1706A>G (p.Lys569Arg) c.2483A>G (p.Lys828Arg) n.2452A>G c.2147A>G (p.Lys716Arg) c.2558A>G (p.Lys853Arg) c.*2200A>G (n.*2200A>G) n.2583A>G c.14A>G (p.Lys5Arg) c.2480A>G (p.Lys827Arg) c.655+2495A>G (n.655+2495A>G) c.1168-776A>G (n.1168-776A>G) c.2411A>G (p.Lys804Arg) c.2474A>G (p.Lys825Arg) c.2462A>G (p.Lys821Arg) | |
| 2 | g.144398704T>G | CA348708179 | ZEB2 | c.*2332A>C (n.*2332A>C) c.1706A>C (p.Lys569Thr) c.2483A>C (p.Lys828Thr) n.2452A>C c.2147A>C (p.Lys716Thr) c.2558A>C (p.Lys853Thr) c.*2200A>C (n.*2200A>C) n.2583A>C c.14A>C (p.Lys5Thr) c.2480A>C (p.Lys827Thr) c.655+2495A>C (n.655+2495A>C) c.1168-776A>C (n.1168-776A>C) c.2411A>C (p.Lys804Thr) c.2474A>C (p.Lys825Thr) c.2462A>C (p.Lys821Thr) | |
| 2 | g.144398705T>A | CA348708181 | ZEB2 | c.*2331A>T (n.*2331A>T) c.1705A>T (p.Lys569Ter) c.2482A>T (p.Lys828Ter) n.2451A>T c.2146A>T (p.Lys716Ter) c.2557A>T (p.Lys853Ter) c.*2199A>T (n.*2199A>T) n.2582A>T c.13A>T (p.Lys5Ter) c.2479A>T (p.Lys827Ter) c.655+2494A>T (n.655+2494A>T) c.1168-777A>T (n.1168-777A>T) c.2410A>T (p.Lys804Ter) c.2473A>T (p.Lys825Ter) c.2461A>T (p.Lys821Ter) | |
| 2 | g.144398705T>C | CA348708182 | ZEB2 | c.*2331A>G (n.*2331A>G) c.1705A>G (p.Lys569Glu) c.2482A>G (p.Lys828Glu) n.2451A>G c.2146A>G (p.Lys716Glu) c.2557A>G (p.Lys853Glu) c.*2199A>G (n.*2199A>G) n.2582A>G c.13A>G (p.Lys5Glu) c.2479A>G (p.Lys827Glu) c.655+2494A>G (n.655+2494A>G) c.1168-777A>G (n.1168-777A>G) c.2410A>G (p.Lys804Glu) c.2473A>G (p.Lys825Glu) c.2461A>G (p.Lys821Glu) | gnomAD v4 |
| 2 | g.144398705T>G | CA348708180 | ZEB2 | c.*2331A>C (n.*2331A>C) c.1705A>C (p.Lys569Gln) c.2482A>C (p.Lys828Gln) n.2451A>C c.2146A>C (p.Lys716Gln) c.2557A>C (p.Lys853Gln) c.*2199A>C (n.*2199A>C) n.2582A>C c.13A>C (p.Lys5Gln) c.2479A>C (p.Lys827Gln) c.655+2494A>C (n.655+2494A>C) c.1168-777A>C (n.1168-777A>C) c.2410A>C (p.Lys804Gln) c.2473A>C (p.Lys825Gln) c.2461A>C (p.Lys821Gln) | |
| 2 | g.144398706G>A | CA429445790 | ZEB2 | c.*2330C>T (n.*2330C>T) c.1704C>T (p.Pro568=) c.2481C>T (p.Pro827=) n.2450C>T c.2145C>T (p.Pro715=) c.2556C>T (p.Pro852=) c.*2198C>T (n.*2198C>T) n.2581C>T c.12C>T (p.Pro4=) c.2478C>T (p.Pro826=) c.655+2493C>T (n.655+2493C>T) c.1168-778C>T (n.1168-778C>T) c.2409C>T (p.Pro803=) c.2472C>T (p.Pro824=) c.2460C>T (p.Pro820=) | ClinVar dbSNP |
| 2 | g.144398706G>C | CA429445791 | ZEB2 | c.*2330C>G (n.*2330C>G) c.1704C>G (p.Pro568=) c.2481C>G (p.Pro827=) n.2450C>G c.2145C>G (p.Pro715=) c.2556C>G (p.Pro852=) c.*2198C>G (n.*2198C>G) n.2581C>G c.12C>G (p.Pro4=) c.2478C>G (p.Pro826=) c.655+2493C>G (n.655+2493C>G) c.1168-778C>G (n.1168-778C>G) c.2409C>G (p.Pro803=) c.2472C>G (p.Pro824=) c.2460C>G (p.Pro820=) | |
| 2 | g.144398706G= | CA1294885001 | ZEB2 | c.*2330C= (n.*2330C=) c.1704C= (p.Pro568=) c.2481C= (p.Pro827=) n.2450C= c.2145C= (p.Pro715=) c.2556C= (p.Pro852=) c.*2198C= (n.*2198C=) n.2581C= c.12C= (p.Pro4=) c.2478C= (p.Pro826=) c.655+2493C= (n.655+2493C=) c.1168-778C= (n.1168-778C=) c.2409C= (p.Pro803=) c.2472C= (p.Pro824=) c.2460C= (p.Pro820=) | |
| 2 | g.144398706G>T | CA57555042 | ZEB2 | c.*2330C>A (n.*2330C>A) c.1704C>A (p.Pro568=) c.2481C>A (p.Pro827=) n.2450C>A c.2145C>A (p.Pro715=) c.2556C>A (p.Pro852=) c.*2198C>A (n.*2198C>A) n.2581C>A c.12C>A (p.Pro4=) c.2478C>A (p.Pro826=) c.655+2493C>A (n.655+2493C>A) c.1168-778C>A (n.1168-778C>A) c.2409C>A (p.Pro803=) c.2472C>A (p.Pro824=) c.2460C>A (p.Pro820=) | dbSNP |
| 2 | g.144398707G>A | CA348708183 | ZEB2 | c.*2329C>T (n.*2329C>T) c.1703C>T (p.Pro568Leu) c.2480C>T (p.Pro827Leu) n.2449C>T c.2144C>T (p.Pro715Leu) c.2555C>T (p.Pro852Leu) c.*2197C>T (n.*2197C>T) n.2580C>T c.11C>T (p.Pro4Leu) c.2477C>T (p.Pro826Leu) c.655+2492C>T (n.655+2492C>T) c.1168-779C>T (n.1168-779C>T) c.2408C>T (p.Pro803Leu) c.2471C>T (p.Pro824Leu) c.2459C>T (p.Pro820Leu) | dbSNP |
| 2 | g.144398707G>C | CA348708184 | ZEB2 | c.*2329C>G (n.*2329C>G) c.1703C>G (p.Pro568Arg) c.2480C>G (p.Pro827Arg) n.2449C>G c.2144C>G (p.Pro715Arg) c.2555C>G (p.Pro852Arg) c.*2197C>G (n.*2197C>G) n.2580C>G c.11C>G (p.Pro4Arg) c.2477C>G (p.Pro826Arg) c.655+2492C>G (n.655+2492C>G) c.1168-779C>G (n.1168-779C>G) c.2408C>G (p.Pro803Arg) c.2471C>G (p.Pro824Arg) c.2459C>G (p.Pro820Arg) | |
| 2 | g.144398707G= | CA1294885002 | ZEB2 | c.*2329C= (n.*2329C=) c.1703C= (p.Pro568=) c.2480C= (p.Pro827=) n.2449C= c.2144C= (p.Pro715=) c.2555C= (p.Pro852=) c.*2197C= (n.*2197C=) n.2580C= c.11C= (p.Pro4=) c.2477C= (p.Pro826=) c.655+2492C= (n.655+2492C=) c.1168-779C= (n.1168-779C=) c.2408C= (p.Pro803=) c.2471C= (p.Pro824=) c.2459C= (p.Pro820=) | |
| 2 | g.144398707G>T | CA348708185 | ZEB2 | c.*2329C>A (n.*2329C>A) c.1703C>A (p.Pro568His) c.2480C>A (p.Pro827His) n.2449C>A c.2144C>A (p.Pro715His) c.2555C>A (p.Pro852His) c.*2197C>A (n.*2197C>A) n.2580C>A c.11C>A (p.Pro4His) c.2477C>A (p.Pro826His) c.655+2492C>A (n.655+2492C>A) c.1168-779C>A (n.1168-779C>A) c.2408C>A (p.Pro803His) c.2471C>A (p.Pro824His) c.2459C>A (p.Pro820His) | COSMIC |
| 2 | g.144398708G>A | CA1898244 | ZEB2 | c.*2328C>T (n.*2328C>T) c.1702C>T (p.Pro568Ser) c.2479C>T (p.Pro827Ser) n.2448C>T c.2143C>T (p.Pro715Ser) c.2554C>T (p.Pro852Ser) c.*2196C>T (n.*2196C>T) n.2579C>T c.10C>T (p.Pro4Ser) c.2476C>T (p.Pro826Ser) c.655+2491C>T (n.655+2491C>T) c.1168-780C>T (n.1168-780C>T) c.2407C>T (p.Pro803Ser) c.2470C>T (p.Pro824Ser) c.2458C>T (p.Pro820Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144398708G>C | CA348708186 | ZEB2 | c.*2328C>G (n.*2328C>G) c.1702C>G (p.Pro568Ala) c.2479C>G (p.Pro827Ala) n.2448C>G c.2143C>G (p.Pro715Ala) c.2554C>G (p.Pro852Ala) c.*2196C>G (n.*2196C>G) n.2579C>G c.10C>G (p.Pro4Ala) c.2476C>G (p.Pro826Ala) c.655+2491C>G (n.655+2491C>G) c.1168-780C>G (n.1168-780C>G) c.2407C>G (p.Pro803Ala) c.2470C>G (p.Pro824Ala) c.2458C>G (p.Pro820Ala) | |
| 2 | g.144398708G= | CA1294885003 | ZEB2 | c.*2328C= (n.*2328C=) c.1702C= (p.Pro568=) c.2479C= (p.Pro827=) n.2448C= c.2143C= (p.Pro715=) c.2554C= (p.Pro852=) c.*2196C= (n.*2196C=) n.2579C= c.10C= (p.Pro4=) c.2476C= (p.Pro826=) c.655+2491C= (n.655+2491C=) c.1168-780C= (n.1168-780C=) c.2407C= (p.Pro803=) c.2470C= (p.Pro824=) c.2458C= (p.Pro820=) | |
| 2 | g.144398708G>T | CA348708187 | ZEB2 | c.*2328C>A (n.*2328C>A) c.1702C>A (p.Pro568Thr) c.2479C>A (p.Pro827Thr) n.2448C>A c.2143C>A (p.Pro715Thr) c.2554C>A (p.Pro852Thr) c.*2196C>A (n.*2196C>A) n.2579C>A c.10C>A (p.Pro4Thr) c.2476C>A (p.Pro826Thr) c.655+2491C>A (n.655+2491C>A) c.1168-780C>A (n.1168-780C>A) c.2407C>A (p.Pro803Thr) c.2470C>A (p.Pro824Thr) c.2458C>A (p.Pro820Thr) | gnomAD v4 |
| 2 | g.144398709T>A | CA348708188 | ZEB2 | c.*2327A>T (n.*2327A>T) c.1701A>T (p.Glu567Asp) c.2478A>T (p.Glu826Asp) n.2447A>T c.2142A>T (p.Glu714Asp) c.2553A>T (p.Glu851Asp) c.*2195A>T (n.*2195A>T) n.2578A>T c.9A>T (p.Glu3Asp) c.2475A>T (p.Glu825Asp) c.655+2490A>T (n.655+2490A>T) c.1168-781A>T (n.1168-781A>T) c.2406A>T (p.Glu802Asp) c.2469A>T (p.Glu823Asp) c.2457A>T (p.Glu819Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.144398709T>C | CA429445798 | ZEB2 | c.*2327A>G (n.*2327A>G) c.1701A>G (p.Glu567=) c.2478A>G (p.Glu826=) n.2447A>G c.2142A>G (p.Glu714=) c.2553A>G (p.Glu851=) c.*2195A>G (n.*2195A>G) n.2578A>G c.9A>G (p.Glu3=) c.2475A>G (p.Glu825=) c.655+2490A>G (n.655+2490A>G) c.1168-781A>G (n.1168-781A>G) c.2406A>G (p.Glu802=) c.2469A>G (p.Glu823=) c.2457A>G (p.Glu819=) | gnomAD v4 |
| 2 | g.144398709T>G | CA348708189 | ZEB2 | c.*2327A>C (n.*2327A>C) c.1701A>C (p.Glu567Asp) c.2478A>C (p.Glu826Asp) n.2447A>C c.2142A>C (p.Glu714Asp) c.2553A>C (p.Glu851Asp) c.*2195A>C (n.*2195A>C) n.2578A>C c.9A>C (p.Glu3Asp) c.2475A>C (p.Glu825Asp) c.655+2490A>C (n.655+2490A>C) c.1168-781A>C (n.1168-781A>C) c.2406A>C (p.Glu802Asp) c.2469A>C (p.Glu823Asp) c.2457A>C (p.Glu819Asp) | |
| 2 | g.144398709T= | CA1294885004 | ZEB2 | c.*2327A= (n.*2327A=) c.1701A= (p.Glu567=) c.2478A= (p.Glu826=) n.2447A= c.2142A= (p.Glu714=) c.2553A= (p.Glu851=) c.*2195A= (n.*2195A=) n.2578A= c.9A= (p.Glu3=) c.2475A= (p.Glu825=) c.655+2490A= (n.655+2490A=) c.1168-781A= (n.1168-781A=) c.2406A= (p.Glu802=) c.2469A= (p.Glu823=) c.2457A= (p.Glu819=) | |
| 2 | g.144398710T>A | CA348708190 | ZEB2 | c.*2326A>T (n.*2326A>T) c.1700A>T (p.Glu567Val) c.2477A>T (p.Glu826Val) n.2446A>T c.2141A>T (p.Glu714Val) c.2552A>T (p.Glu851Val) c.*2194A>T (n.*2194A>T) n.2577A>T c.8A>T (p.Glu3Val) c.2474A>T (p.Glu825Val) c.655+2489A>T (n.655+2489A>T) c.1168-782A>T (n.1168-782A>T) c.2405A>T (p.Glu802Val) c.2468A>T (p.Glu823Val) c.2456A>T (p.Glu819Val) | gnomAD v4 |