WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144389599del | CA297644 | ZEB2 | c.*3348del (n.*3348del) c.2722del (p.Ser908ValfsTer?) c.3499del (p.Ser1167ValfsTer?) c.3387del (p.Val1130Ter) n.3468del c.3163del (p.Ser1055ValfsTer?) c.3574del (p.Ser1192ValfsTer?) c.*3216del (n.*3216del) n.3599del c.151+6815del (n.151+6815del) c.719del (n.719del) c.1030del (p.Ser344ValfsTer?) c.3496del (p.Ser1166ValfsTer?) c.656-715del (n.656-715del) c.3427del (p.Ser1143ValfsTer?) c.3490del (p.Ser1164ValfsTer?) c.3478del (p.Ser1160ValfsTer?) | ClinVar dbSNP |
| 2 | g.144389599T>A | CA348699161 | ZEB2 | c.*3346A>T (n.*3346A>T) c.2720A>T (p.Glu907Val) c.3497A>T (p.Glu1166Val) c.3385A>T (p.Lys1129Ter) n.3466A>T c.3161A>T (p.Glu1054Val) c.3572A>T (p.Glu1191Val) c.*3214A>T (n.*3214A>T) n.3597A>T c.151+6813A>T (n.151+6813A>T) c.717A>T (n.717A>T) c.1028A>T (p.Glu343Val) c.3494A>T (p.Glu1165Val) c.656-717A>T (n.656-717A>T) c.3425A>T (p.Glu1142Val) c.3488A>T (p.Glu1163Val) c.3476A>T (p.Glu1159Val) | |
| 2 | g.144389599T>C | CA348699162 | ZEB2 | c.*3346A>G (n.*3346A>G) c.2720A>G (p.Glu907Gly) c.3497A>G (p.Glu1166Gly) c.3385A>G (p.Lys1129Glu) n.3466A>G c.3161A>G (p.Glu1054Gly) c.3572A>G (p.Glu1191Gly) c.*3214A>G (n.*3214A>G) n.3597A>G c.151+6813A>G (n.151+6813A>G) c.717A>G (n.717A>G) c.1028A>G (p.Glu343Gly) c.3494A>G (p.Glu1165Gly) c.656-717A>G (n.656-717A>G) c.3425A>G (p.Glu1142Gly) c.3488A>G (p.Glu1163Gly) c.3476A>G (p.Glu1159Gly) | gnomAD v4 |
| 2 | g.144389599T>G | CA348699163 | ZEB2 | c.*3346A>C (n.*3346A>C) c.2720A>C (p.Glu907Ala) c.3497A>C (p.Glu1166Ala) c.3385A>C (p.Lys1129Gln) n.3466A>C c.3161A>C (p.Glu1054Ala) c.3572A>C (p.Glu1191Ala) c.*3214A>C (n.*3214A>C) n.3597A>C c.151+6813A>C (n.151+6813A>C) c.717A>C (n.717A>C) c.1028A>C (p.Glu343Ala) c.3494A>C (p.Glu1165Ala) c.656-717A>C (n.656-717A>C) c.3425A>C (p.Glu1142Ala) c.3488A>C (p.Glu1163Ala) c.3476A>C (p.Glu1159Ala) | |
| 2 | g.144389600C>A | CA348699165 | ZEB2 | c.*3345G>T (n.*3345G>T) c.2719G>T (p.Glu907Ter) c.3496G>T (p.Glu1166Ter) c.3384G>T (p.Lys1128Asn) n.3465G>T c.3160G>T (p.Glu1054Ter) c.3571G>T (p.Glu1191Ter) c.*3213G>T (n.*3213G>T) n.3596G>T c.151+6812G>T (n.151+6812G>T) c.716G>T (n.716G>T) c.1027G>T (p.Glu343Ter) c.3493G>T (p.Glu1165Ter) c.656-718G>T (n.656-718G>T) c.3424G>T (p.Glu1142Ter) c.3487G>T (p.Glu1163Ter) c.3475G>T (p.Glu1159Ter) | |
| 2 | g.144389600C>G | CA348699166 | ZEB2 | c.*3345G>C (n.*3345G>C) c.2719G>C (p.Glu907Gln) c.3496G>C (p.Glu1166Gln) c.3384G>C (p.Lys1128Asn) n.3465G>C c.3160G>C (p.Glu1054Gln) c.3571G>C (p.Glu1191Gln) c.*3213G>C (n.*3213G>C) n.3596G>C c.151+6812G>C (n.151+6812G>C) c.716G>C (n.716G>C) c.1027G>C (p.Glu343Gln) c.3493G>C (p.Glu1165Gln) c.656-718G>C (n.656-718G>C) c.3424G>C (p.Glu1142Gln) c.3487G>C (p.Glu1163Gln) c.3475G>C (p.Glu1159Gln) | |
| 2 | g.144389600C>T | CA348699164 | ZEB2 | c.*3345G>A (n.*3345G>A) c.2719G>A (p.Glu907Lys) c.3496G>A (p.Glu1166Lys) c.3384G>A (p.Lys1128=) n.3465G>A c.3160G>A (p.Glu1054Lys) c.3571G>A (p.Glu1191Lys) c.*3213G>A (n.*3213G>A) n.3596G>A c.151+6812G>A (n.151+6812G>A) c.716G>A (n.716G>A) c.1027G>A (p.Glu343Lys) c.3493G>A (p.Glu1165Lys) c.656-718G>A (n.656-718G>A) c.3424G>A (p.Glu1142Lys) c.3487G>A (p.Glu1163Lys) c.3475G>A (p.Glu1159Lys) | |
| 2 | g.144389601T>A | CA348699168 | ZEB2 | c.*3344A>T (n.*3344A>T) c.2718A>T (p.Glu906Asp) c.3495A>T (p.Glu1165Asp) c.3383A>T (p.Lys1128Met) n.3464A>T c.3159A>T (p.Glu1053Asp) c.3570A>T (p.Glu1190Asp) c.*3212A>T (n.*3212A>T) n.3595A>T c.151+6811A>T (n.151+6811A>T) c.715A>T (n.715A>T) c.1026A>T (p.Glu342Asp) c.3492A>T (p.Glu1164Asp) c.656-719A>T (n.656-719A>T) c.3423A>T (p.Glu1141Asp) c.3486A>T (p.Glu1162Asp) c.3474A>T (p.Glu1158Asp) | dbSNP |
| 2 | g.144389601T>C | CA57549300 | ZEB2 | c.*3344A>G (n.*3344A>G) c.2718A>G (p.Glu906=) c.3495A>G (p.Glu1165=) c.3383A>G (p.Lys1128Arg) n.3464A>G c.3159A>G (p.Glu1053=) c.3570A>G (p.Glu1190=) c.*3212A>G (n.*3212A>G) n.3595A>G c.151+6811A>G (n.151+6811A>G) c.715A>G (n.715A>G) c.1026A>G (p.Glu342=) c.3492A>G (p.Glu1164=) c.656-719A>G (n.656-719A>G) c.3423A>G (p.Glu1141=) c.3486A>G (p.Glu1162=) c.3474A>G (p.Glu1158=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144389601T>G | CA348699167 | ZEB2 | c.*3344A>C (n.*3344A>C) c.2718A>C (p.Glu906Asp) c.3495A>C (p.Glu1165Asp) c.3383A>C (p.Lys1128Thr) n.3464A>C c.3159A>C (p.Glu1053Asp) c.3570A>C (p.Glu1190Asp) c.*3212A>C (n.*3212A>C) n.3595A>C c.151+6811A>C (n.151+6811A>C) c.715A>C (n.715A>C) c.1026A>C (p.Glu342Asp) c.3492A>C (p.Glu1164Asp) c.656-719A>C (n.656-719A>C) c.3423A>C (p.Glu1141Asp) c.3486A>C (p.Glu1162Asp) c.3474A>C (p.Glu1158Asp) | |
| 2 | g.144389601T= | CA1294881264 | ZEB2 | c.*3344A= (n.*3344A=) c.2718A= (p.Glu906=) c.3495A= (p.Glu1165=) c.3383A= (p.Lys1128=) n.3464A= c.3159A= (p.Glu1053=) c.3570A= (p.Glu1190=) c.*3212A= (n.*3212A=) n.3595A= c.151+6811A= (n.151+6811A=) c.715A= (n.715A=) c.1026A= (p.Glu342=) c.3492A= (p.Glu1164=) c.656-719A= (n.656-719A=) c.3423A= (p.Glu1141=) c.3486A= (p.Glu1162=) c.3474A= (p.Glu1158=) | |
| 2 | g.144389602T>A | CA348699169 | ZEB2 | c.*3343A>T (n.*3343A>T) c.2717A>T (p.Glu906Val) c.3494A>T (p.Glu1165Val) c.3382A>T (p.Lys1128Ter) n.3463A>T c.3158A>T (p.Glu1053Val) c.3569A>T (p.Glu1190Val) c.*3211A>T (n.*3211A>T) n.3594A>T c.151+6810A>T (n.151+6810A>T) c.714A>T (n.714A>T) c.1025A>T (p.Glu342Val) c.3491A>T (p.Glu1164Val) c.656-720A>T (n.656-720A>T) c.3422A>T (p.Glu1141Val) c.3485A>T (p.Glu1162Val) c.3473A>T (p.Glu1158Val) | |
| 2 | g.144389602T>C | CA348699170 | ZEB2 | c.*3343A>G (n.*3343A>G) c.2717A>G (p.Glu906Gly) c.3494A>G (p.Glu1165Gly) c.3382A>G (p.Lys1128Glu) n.3463A>G c.3158A>G (p.Glu1053Gly) c.3569A>G (p.Glu1190Gly) c.*3211A>G (n.*3211A>G) n.3594A>G c.151+6810A>G (n.151+6810A>G) c.714A>G (n.714A>G) c.1025A>G (p.Glu342Gly) c.3491A>G (p.Glu1164Gly) c.656-720A>G (n.656-720A>G) c.3422A>G (p.Glu1141Gly) c.3485A>G (p.Glu1162Gly) c.3473A>G (p.Glu1158Gly) | |
| 2 | g.144389602T>G | CA348699171 | ZEB2 | c.*3343A>C (n.*3343A>C) c.2717A>C (p.Glu906Ala) c.3494A>C (p.Glu1165Ala) c.3382A>C (p.Lys1128Gln) n.3463A>C c.3158A>C (p.Glu1053Ala) c.3569A>C (p.Glu1190Ala) c.*3211A>C (n.*3211A>C) n.3594A>C c.151+6810A>C (n.151+6810A>C) c.714A>C (n.714A>C) c.1025A>C (p.Glu342Ala) c.3491A>C (p.Glu1164Ala) c.656-720A>C (n.656-720A>C) c.3422A>C (p.Glu1141Ala) c.3485A>C (p.Glu1162Ala) c.3473A>C (p.Glu1158Ala) | |
| 2 | g.144389603C>A | CA348699172 | ZEB2 | c.*3342G>T (n.*3342G>T) c.2716G>T (p.Glu906Ter) c.3493G>T (p.Glu1165Ter) c.3381G>T (p.Arg1127Ser) n.3462G>T c.3157G>T (p.Glu1053Ter) c.3568G>T (p.Glu1190Ter) c.*3210G>T (n.*3210G>T) n.3593G>T c.151+6809G>T (n.151+6809G>T) c.713G>T (n.713G>T) c.1024G>T (p.Glu342Ter) c.3490G>T (p.Glu1164Ter) c.656-721G>T (n.656-721G>T) c.3421G>T (p.Glu1141Ter) c.3484G>T (p.Glu1162Ter) c.3472G>T (p.Glu1158Ter) | |
| 2 | g.144389603C>G | CA348699173 | ZEB2 | c.*3342G>C (n.*3342G>C) c.2716G>C (p.Glu906Gln) c.3493G>C (p.Glu1165Gln) c.3381G>C (p.Arg1127Ser) n.3462G>C c.3157G>C (p.Glu1053Gln) c.3568G>C (p.Glu1190Gln) c.*3210G>C (n.*3210G>C) n.3593G>C c.151+6809G>C (n.151+6809G>C) c.713G>C (n.713G>C) c.1024G>C (p.Glu342Gln) c.3490G>C (p.Glu1164Gln) c.656-721G>C (n.656-721G>C) c.3421G>C (p.Glu1141Gln) c.3484G>C (p.Glu1162Gln) c.3472G>C (p.Glu1158Gln) | |
| 2 | g.144389603C>T | CA348699174 | ZEB2 | c.*3342G>A (n.*3342G>A) c.2716G>A (p.Glu906Lys) c.3493G>A (p.Glu1165Lys) c.3381G>A (p.Arg1127=) n.3462G>A c.3157G>A (p.Glu1053Lys) c.3568G>A (p.Glu1190Lys) c.*3210G>A (n.*3210G>A) n.3593G>A c.151+6809G>A (n.151+6809G>A) c.713G>A (n.713G>A) c.1024G>A (p.Glu342Lys) c.3490G>A (p.Glu1164Lys) c.656-721G>A (n.656-721G>A) c.3421G>A (p.Glu1141Lys) c.3484G>A (p.Glu1162Lys) c.3472G>A (p.Glu1158Lys) | |
| 2 | g.144389604C>A | CA348699175 | ZEB2 | c.*3341G>T (n.*3341G>T) c.2715G>T (p.Glu905Asp) c.3492G>T (p.Glu1164Asp) c.3380G>T (p.Arg1127Met) n.3461G>T c.3156G>T (p.Glu1052Asp) c.3567G>T (p.Glu1189Asp) c.*3209G>T (n.*3209G>T) n.3592G>T c.151+6808G>T (n.151+6808G>T) c.712G>T (n.712G>T) c.1023G>T (p.Glu341Asp) c.3489G>T (p.Glu1163Asp) c.656-722G>T (n.656-722G>T) c.3420G>T (p.Glu1140Asp) c.3483G>T (p.Glu1161Asp) c.3471G>T (p.Glu1157Asp) | gnomAD v4 COSMIC |
| 2 | g.144389604C>G | CA348699176 | ZEB2 | c.*3341G>C (n.*3341G>C) c.2715G>C (p.Glu905Asp) c.3492G>C (p.Glu1164Asp) c.3380G>C (p.Arg1127Thr) n.3461G>C c.3156G>C (p.Glu1052Asp) c.3567G>C (p.Glu1189Asp) c.*3209G>C (n.*3209G>C) n.3592G>C c.151+6808G>C (n.151+6808G>C) c.712G>C (n.712G>C) c.1023G>C (p.Glu341Asp) c.3489G>C (p.Glu1163Asp) c.656-722G>C (n.656-722G>C) c.3420G>C (p.Glu1140Asp) c.3483G>C (p.Glu1161Asp) c.3471G>C (p.Glu1157Asp) | ClinVar dbSNP |
| 2 | g.144389604C>T | CA429441098 | ZEB2 | c.*3341G>A (n.*3341G>A) c.2715G>A (p.Glu905=) c.3492G>A (p.Glu1164=) c.3380G>A (p.Arg1127Lys) n.3461G>A c.3156G>A (p.Glu1052=) c.3567G>A (p.Glu1189=) c.*3209G>A (n.*3209G>A) n.3592G>A c.151+6808G>A (n.151+6808G>A) c.712G>A (n.712G>A) c.1023G>A (p.Glu341=) c.3489G>A (p.Glu1163=) c.656-722G>A (n.656-722G>A) c.3420G>A (p.Glu1140=) c.3483G>A (p.Glu1161=) c.3471G>A (p.Glu1157=) | dbSNP gnomAD v4 |
| 2 | g.144389605T>A | CA348699177 | ZEB2 | c.*3340A>T (n.*3340A>T) c.2714A>T (p.Glu905Val) c.3491A>T (p.Glu1164Val) c.3379A>T (p.Arg1127Trp) n.3460A>T c.3155A>T (p.Glu1052Val) c.3566A>T (p.Glu1189Val) c.*3208A>T (n.*3208A>T) n.3591A>T c.151+6807A>T (n.151+6807A>T) c.711A>T (n.711A>T) c.1022A>T (p.Glu341Val) c.3488A>T (p.Glu1163Val) c.656-723A>T (n.656-723A>T) c.3419A>T (p.Glu1140Val) c.3482A>T (p.Glu1161Val) c.3470A>T (p.Glu1157Val) | |
| 2 | g.144389605T>C | CA348699178 | ZEB2 | c.*3340A>G (n.*3340A>G) c.2714A>G (p.Glu905Gly) c.3491A>G (p.Glu1164Gly) c.3379A>G (p.Arg1127Gly) n.3460A>G c.3155A>G (p.Glu1052Gly) c.3566A>G (p.Glu1189Gly) c.*3208A>G (n.*3208A>G) n.3591A>G c.151+6807A>G (n.151+6807A>G) c.711A>G (n.711A>G) c.1022A>G (p.Glu341Gly) c.3488A>G (p.Glu1163Gly) c.656-723A>G (n.656-723A>G) c.3419A>G (p.Glu1140Gly) c.3482A>G (p.Glu1161Gly) c.3470A>G (p.Glu1157Gly) | |
| 2 | g.144389605T>G | CA348699179 | ZEB2 | c.*3340A>C (n.*3340A>C) c.2714A>C (p.Glu905Ala) c.3491A>C (p.Glu1164Ala) c.3379A>C (p.Arg1127=) n.3460A>C c.3155A>C (p.Glu1052Ala) c.3566A>C (p.Glu1189Ala) c.*3208A>C (n.*3208A>C) n.3591A>C c.151+6807A>C (n.151+6807A>C) c.711A>C (n.711A>C) c.1022A>C (p.Glu341Ala) c.3488A>C (p.Glu1163Ala) c.656-723A>C (n.656-723A>C) c.3419A>C (p.Glu1140Ala) c.3482A>C (p.Glu1161Ala) c.3470A>C (p.Glu1157Ala) | |
| 2 | g.144389606C>A | CA348699182 | ZEB2 | c.*3339G>T (n.*3339G>T) c.2713G>T (p.Glu905Ter) c.3490G>T (p.Glu1164Ter) c.3378G>T (p.Lys1126Asn) n.3459G>T c.3154G>T (p.Glu1052Ter) c.3565G>T (p.Glu1189Ter) c.*3207G>T (n.*3207G>T) n.3590G>T c.151+6806G>T (n.151+6806G>T) c.710G>T (n.710G>T) c.1021G>T (p.Glu341Ter) c.3487G>T (p.Glu1163Ter) c.656-724G>T (n.656-724G>T) c.3418G>T (p.Glu1140Ter) c.3481G>T (p.Glu1161Ter) c.3469G>T (p.Glu1157Ter) | |
| 2 | g.144389606C>G | CA348699181 | ZEB2 | c.*3339G>C (n.*3339G>C) c.2713G>C (p.Glu905Gln) c.3490G>C (p.Glu1164Gln) c.3378G>C (p.Lys1126Asn) n.3459G>C c.3154G>C (p.Glu1052Gln) c.3565G>C (p.Glu1189Gln) c.*3207G>C (n.*3207G>C) n.3590G>C c.151+6806G>C (n.151+6806G>C) c.710G>C (n.710G>C) c.1021G>C (p.Glu341Gln) c.3487G>C (p.Glu1163Gln) c.656-724G>C (n.656-724G>C) c.3418G>C (p.Glu1140Gln) c.3481G>C (p.Glu1161Gln) c.3469G>C (p.Glu1157Gln) | |
| 2 | g.144389606C>T | CA348699180 | ZEB2 | c.*3339G>A (n.*3339G>A) c.2713G>A (p.Glu905Lys) c.3490G>A (p.Glu1164Lys) c.3378G>A (p.Lys1126=) n.3459G>A c.3154G>A (p.Glu1052Lys) c.3565G>A (p.Glu1189Lys) c.*3207G>A (n.*3207G>A) n.3590G>A c.151+6806G>A (n.151+6806G>A) c.710G>A (n.710G>A) c.1021G>A (p.Glu341Lys) c.3487G>A (p.Glu1163Lys) c.656-724G>A (n.656-724G>A) c.3418G>A (p.Glu1140Lys) c.3481G>A (p.Glu1161Lys) c.3469G>A (p.Glu1157Lys) | |
| 2 | g.144389607T>A | CA348699183 | ZEB2 | c.*3338A>T (n.*3338A>T) c.2712A>T (p.Glu904Asp) c.3489A>T (p.Glu1163Asp) c.3377A>T (p.Lys1126Met) n.3458A>T c.3153A>T (p.Glu1051Asp) c.3564A>T (p.Glu1188Asp) c.*3206A>T (n.*3206A>T) n.3589A>T c.151+6805A>T (n.151+6805A>T) c.709A>T (n.709A>T) c.1020A>T (p.Glu340Asp) c.3486A>T (p.Glu1162Asp) c.656-725A>T (n.656-725A>T) c.3417A>T (p.Glu1139Asp) c.3480A>T (p.Glu1160Asp) c.3468A>T (p.Glu1156Asp) | |
| 2 | g.144389607T>C | CA429441099 | ZEB2 | c.*3338A>G (n.*3338A>G) c.2712A>G (p.Glu904=) c.3489A>G (p.Glu1163=) c.3377A>G (p.Lys1126Arg) n.3458A>G c.3153A>G (p.Glu1051=) c.3564A>G (p.Glu1188=) c.*3206A>G (n.*3206A>G) n.3589A>G c.151+6805A>G (n.151+6805A>G) c.709A>G (n.709A>G) c.1020A>G (p.Glu340=) c.3486A>G (p.Glu1162=) c.656-725A>G (n.656-725A>G) c.3417A>G (p.Glu1139=) c.3480A>G (p.Glu1160=) c.3468A>G (p.Glu1156=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.144389607T>G | CA348699184 | ZEB2 | c.*3338A>C (n.*3338A>C) c.2712A>C (p.Glu904Asp) c.3489A>C (p.Glu1163Asp) c.3377A>C (p.Lys1126Thr) n.3458A>C c.3153A>C (p.Glu1051Asp) c.3564A>C (p.Glu1188Asp) c.*3206A>C (n.*3206A>C) n.3589A>C c.151+6805A>C (n.151+6805A>C) c.709A>C (n.709A>C) c.1020A>C (p.Glu340Asp) c.3486A>C (p.Glu1162Asp) c.656-725A>C (n.656-725A>C) c.3417A>C (p.Glu1139Asp) c.3480A>C (p.Glu1160Asp) c.3468A>C (p.Glu1156Asp) | |
| 2 | g.144389607T= | CA1294881265 | ZEB2 | c.*3338A= (n.*3338A=) c.2712A= (p.Glu904=) c.3489A= (p.Glu1163=) c.3377A= (p.Lys1126=) n.3458A= c.3153A= (p.Glu1051=) c.3564A= (p.Glu1188=) c.*3206A= (n.*3206A=) n.3589A= c.151+6805A= (n.151+6805A=) c.709A= (n.709A=) c.1020A= (p.Glu340=) c.3486A= (p.Glu1162=) c.656-725A= (n.656-725A=) c.3417A= (p.Glu1139=) c.3480A= (p.Glu1160=) c.3468A= (p.Glu1156=) | |
| 2 | g.144389608del | CA2586969976 | ZEB2 | c.*3338del (n.*3338del) c.2712del (p.Glu905ArgfsTer?) c.3489del (p.Glu1164ArgfsTer?) c.3377del (p.Lys1126ArgfsTer5) n.3458del c.3153del (p.Glu1052ArgfsTer?) c.3564del (p.Glu1189ArgfsTer?) c.*3206del (n.*3206del) n.3589del c.151+6805del (n.151+6805del) c.709del (n.709del) c.1020del (p.Glu341ArgfsTer?) c.3486del (p.Glu1163ArgfsTer?) c.656-725del (n.656-725del) c.3417del (p.Glu1140ArgfsTer?) c.3480del (p.Glu1161ArgfsTer?) c.3468del (p.Glu1157ArgfsTer?) | |
| 2 | g.144389608T>A | CA348699185 | ZEB2 | c.*3337A>T (n.*3337A>T) c.2711A>T (p.Glu904Val) c.3488A>T (p.Glu1163Val) c.3376A>T (p.Lys1126Ter) n.3457A>T c.3152A>T (p.Glu1051Val) c.3563A>T (p.Glu1188Val) c.*3205A>T (n.*3205A>T) n.3588A>T c.151+6804A>T (n.151+6804A>T) c.708A>T (n.708A>T) c.1019A>T (p.Glu340Val) c.3485A>T (p.Glu1162Val) c.656-726A>T (n.656-726A>T) c.3416A>T (p.Glu1139Val) c.3479A>T (p.Glu1160Val) c.3467A>T (p.Glu1156Val) | |
| 2 | g.144389608T>C | CA348699186 | ZEB2 | c.*3337A>G (n.*3337A>G) c.2711A>G (p.Glu904Gly) c.3488A>G (p.Glu1163Gly) c.3376A>G (p.Lys1126Glu) n.3457A>G c.3152A>G (p.Glu1051Gly) c.3563A>G (p.Glu1188Gly) c.*3205A>G (n.*3205A>G) n.3588A>G c.151+6804A>G (n.151+6804A>G) c.708A>G (n.708A>G) c.1019A>G (p.Glu340Gly) c.3485A>G (p.Glu1162Gly) c.656-726A>G (n.656-726A>G) c.3416A>G (p.Glu1139Gly) c.3479A>G (p.Glu1160Gly) c.3467A>G (p.Glu1156Gly) | |
| 2 | g.144389608T>G | CA348699187 | ZEB2 | c.*3337A>C (n.*3337A>C) c.2711A>C (p.Glu904Ala) c.3488A>C (p.Glu1163Ala) c.3376A>C (p.Lys1126Gln) n.3457A>C c.3152A>C (p.Glu1051Ala) c.3563A>C (p.Glu1188Ala) c.*3205A>C (n.*3205A>C) n.3588A>C c.151+6804A>C (n.151+6804A>C) c.708A>C (n.708A>C) c.1019A>C (p.Glu340Ala) c.3485A>C (p.Glu1162Ala) c.656-726A>C (n.656-726A>C) c.3416A>C (p.Glu1139Ala) c.3479A>C (p.Glu1160Ala) c.3467A>C (p.Glu1156Ala) | |
| 2 | g.144389609C>A | CA348699188 | ZEB2 | c.*3336G>T (n.*3336G>T) c.2710G>T (p.Glu904Ter) c.3487G>T (p.Glu1163Ter) c.3375G>T (p.Arg1125Ser) n.3456G>T c.3151G>T (p.Glu1051Ter) c.3562G>T (p.Glu1188Ter) c.*3204G>T (n.*3204G>T) n.3587G>T c.151+6803G>T (n.151+6803G>T) c.707G>T (n.707G>T) c.1018G>T (p.Glu340Ter) c.3484G>T (p.Glu1162Ter) c.656-727G>T (n.656-727G>T) c.3415G>T (p.Glu1139Ter) c.3478G>T (p.Glu1160Ter) c.3466G>T (p.Glu1156Ter) | |
| 2 | g.144389609C= | CA1294881266 | ZEB2 | c.*3336G= (n.*3336G=) c.2710G= (p.Glu904=) c.3487G= (p.Glu1163=) c.3375G= (p.Arg1125=) n.3456G= c.3151G= (p.Glu1051=) c.3562G= (p.Glu1188=) c.*3204G= (n.*3204G=) n.3587G= c.151+6803G= (n.151+6803G=) c.707G= (n.707G=) c.1018G= (p.Glu340=) c.3484G= (p.Glu1162=) c.656-727G= (n.656-727G=) c.3415G= (p.Glu1139=) c.3478G= (p.Glu1160=) c.3466G= (p.Glu1156=) | |
| 2 | g.144389609C>G | CA348699189 | ZEB2 | c.*3336G>C (n.*3336G>C) c.2710G>C (p.Glu904Gln) c.3487G>C (p.Glu1163Gln) c.3375G>C (p.Arg1125Ser) n.3456G>C c.3151G>C (p.Glu1051Gln) c.3562G>C (p.Glu1188Gln) c.*3204G>C (n.*3204G>C) n.3587G>C c.151+6803G>C (n.151+6803G>C) c.707G>C (n.707G>C) c.1018G>C (p.Glu340Gln) c.3484G>C (p.Glu1162Gln) c.656-727G>C (n.656-727G>C) c.3415G>C (p.Glu1139Gln) c.3478G>C (p.Glu1160Gln) c.3466G>C (p.Glu1156Gln) | |
| 2 | g.144389609C>T | CA1898109 | ZEB2 | c.*3336G>A (n.*3336G>A) c.2710G>A (p.Glu904Lys) c.3487G>A (p.Glu1163Lys) c.3375G>A (p.Arg1125=) n.3456G>A c.3151G>A (p.Glu1051Lys) c.3562G>A (p.Glu1188Lys) c.*3204G>A (n.*3204G>A) n.3587G>A c.151+6803G>A (n.151+6803G>A) c.707G>A (n.707G>A) c.1018G>A (p.Glu340Lys) c.3484G>A (p.Glu1162Lys) c.656-727G>A (n.656-727G>A) c.3415G>A (p.Glu1139Lys) c.3478G>A (p.Glu1160Lys) c.3466G>A (p.Glu1156Lys) | dbSNP ExAC |
| 2 | g.144389610C>A | CA348699190 | ZEB2 | c.*3335G>T (n.*3335G>T) c.2709G>T (p.Glu903Asp) c.3486G>T (p.Glu1162Asp) c.3374G>T (p.Arg1125Met) n.3455G>T c.3150G>T (p.Glu1050Asp) c.3561G>T (p.Glu1187Asp) c.*3203G>T (n.*3203G>T) n.3586G>T c.151+6802G>T (n.151+6802G>T) c.706G>T (n.706G>T) c.1017G>T (p.Glu339Asp) c.3483G>T (p.Glu1161Asp) c.656-728G>T (n.656-728G>T) c.3414G>T (p.Glu1138Asp) c.3477G>T (p.Glu1159Asp) c.3465G>T (p.Glu1155Asp) | |
| 2 | g.144389610C>G | CA348699191 | ZEB2 | c.*3335G>C (n.*3335G>C) c.2709G>C (p.Glu903Asp) c.3486G>C (p.Glu1162Asp) c.3374G>C (p.Arg1125Thr) n.3455G>C c.3150G>C (p.Glu1050Asp) c.3561G>C (p.Glu1187Asp) c.*3203G>C (n.*3203G>C) n.3586G>C c.151+6802G>C (n.151+6802G>C) c.706G>C (n.706G>C) c.1017G>C (p.Glu339Asp) c.3483G>C (p.Glu1161Asp) c.656-728G>C (n.656-728G>C) c.3414G>C (p.Glu1138Asp) c.3477G>C (p.Glu1159Asp) c.3465G>C (p.Glu1155Asp) | |
| 2 | g.144389610C>T | CA429441100 | ZEB2 | c.*3335G>A (n.*3335G>A) c.2709G>A (p.Glu903=) c.3486G>A (p.Glu1162=) c.3374G>A (p.Arg1125Lys) n.3455G>A c.3150G>A (p.Glu1050=) c.3561G>A (p.Glu1187=) c.*3203G>A (n.*3203G>A) n.3586G>A c.151+6802G>A (n.151+6802G>A) c.706G>A (n.706G>A) c.1017G>A (p.Glu339=) c.3483G>A (p.Glu1161=) c.656-728G>A (n.656-728G>A) c.3414G>A (p.Glu1138=) c.3477G>A (p.Glu1159=) c.3465G>A (p.Glu1155=) | |
| 2 | g.144389611T>A | CA348699192 | ZEB2 | c.*3334A>T (n.*3334A>T) c.2708A>T (p.Glu903Val) c.3485A>T (p.Glu1162Val) c.3373A>T (p.Arg1125Trp) n.3454A>T c.3149A>T (p.Glu1050Val) c.3560A>T (p.Glu1187Val) c.*3202A>T (n.*3202A>T) n.3585A>T c.151+6801A>T (n.151+6801A>T) c.705A>T (n.705A>T) c.1016A>T (p.Glu339Val) c.3482A>T (p.Glu1161Val) c.656-729A>T (n.656-729A>T) c.3413A>T (p.Glu1138Val) c.3476A>T (p.Glu1159Val) c.3464A>T (p.Glu1155Val) | |
| 2 | g.144389611T>C | CA348699193 | ZEB2 | c.*3334A>G (n.*3334A>G) c.2708A>G (p.Glu903Gly) c.3485A>G (p.Glu1162Gly) c.3373A>G (p.Arg1125Gly) n.3454A>G c.3149A>G (p.Glu1050Gly) c.3560A>G (p.Glu1187Gly) c.*3202A>G (n.*3202A>G) n.3585A>G c.151+6801A>G (n.151+6801A>G) c.705A>G (n.705A>G) c.1016A>G (p.Glu339Gly) c.3482A>G (p.Glu1161Gly) c.656-729A>G (n.656-729A>G) c.3413A>G (p.Glu1138Gly) c.3476A>G (p.Glu1159Gly) c.3464A>G (p.Glu1155Gly) | |
| 2 | g.144389611T>G | CA348699194 | ZEB2 | c.*3334A>C (n.*3334A>C) c.2708A>C (p.Glu903Ala) c.3485A>C (p.Glu1162Ala) c.3373A>C (p.Arg1125=) n.3454A>C c.3149A>C (p.Glu1050Ala) c.3560A>C (p.Glu1187Ala) c.*3202A>C (n.*3202A>C) n.3585A>C c.151+6801A>C (n.151+6801A>C) c.705A>C (n.705A>C) c.1016A>C (p.Glu339Ala) c.3482A>C (p.Glu1161Ala) c.656-729A>C (n.656-729A>C) c.3413A>C (p.Glu1138Ala) c.3476A>C (p.Glu1159Ala) c.3464A>C (p.Glu1155Ala) | |
| 2 | g.144389612C>A | CA348699197 | ZEB2 | c.*3333G>T (n.*3333G>T) c.2707G>T (p.Glu903Ter) c.3484G>T (p.Glu1162Ter) c.3372G>T (p.Arg1124Ser) n.3453G>T c.3148G>T (p.Glu1050Ter) c.3559G>T (p.Glu1187Ter) c.*3201G>T (n.*3201G>T) n.3584G>T c.151+6800G>T (n.151+6800G>T) c.704G>T (n.704G>T) c.1015G>T (p.Glu339Ter) c.3481G>T (p.Glu1161Ter) c.656-730G>T (n.656-730G>T) c.3412G>T (p.Glu1138Ter) c.3475G>T (p.Glu1159Ter) c.3463G>T (p.Glu1155Ter) | |
| 2 | g.144389612C>G | CA348699196 | ZEB2 | c.*3333G>C (n.*3333G>C) c.2707G>C (p.Glu903Gln) c.3484G>C (p.Glu1162Gln) c.3372G>C (p.Arg1124Ser) n.3453G>C c.3148G>C (p.Glu1050Gln) c.3559G>C (p.Glu1187Gln) c.*3201G>C (n.*3201G>C) n.3584G>C c.151+6800G>C (n.151+6800G>C) c.704G>C (n.704G>C) c.1015G>C (p.Glu339Gln) c.3481G>C (p.Glu1161Gln) c.656-730G>C (n.656-730G>C) c.3412G>C (p.Glu1138Gln) c.3475G>C (p.Glu1159Gln) c.3463G>C (p.Glu1155Gln) | |
| 2 | g.144389612C>T | CA348699195 | ZEB2 | c.*3333G>A (n.*3333G>A) c.2707G>A (p.Glu903Lys) c.3484G>A (p.Glu1162Lys) c.3372G>A (p.Arg1124=) n.3453G>A c.3148G>A (p.Glu1050Lys) c.3559G>A (p.Glu1187Lys) c.*3201G>A (n.*3201G>A) n.3584G>A c.151+6800G>A (n.151+6800G>A) c.704G>A (n.704G>A) c.1015G>A (p.Glu339Lys) c.3481G>A (p.Glu1161Lys) c.656-730G>A (n.656-730G>A) c.3412G>A (p.Glu1138Lys) c.3475G>A (p.Glu1159Lys) c.3463G>A (p.Glu1155Lys) | |
| 2 | g.144389613C>A | CA348699199 | ZEB2 | c.*3332G>T (n.*3332G>T) c.2706G>T (p.Glu902Asp) c.3483G>T (p.Glu1161Asp) c.3371G>T (p.Arg1124Met) n.3452G>T c.3147G>T (p.Glu1049Asp) c.3558G>T (p.Glu1186Asp) c.*3200G>T (n.*3200G>T) n.3583G>T c.151+6799G>T (n.151+6799G>T) c.703G>T (n.703G>T) c.1014G>T (p.Glu338Asp) c.3480G>T (p.Glu1160Asp) c.656-731G>T (n.656-731G>T) c.3411G>T (p.Glu1137Asp) c.3474G>T (p.Glu1158Asp) c.3462G>T (p.Glu1154Asp) | |
| 2 | g.144389613C>G | CA348699198 | ZEB2 | c.*3332G>C (n.*3332G>C) c.2706G>C (p.Glu902Asp) c.3483G>C (p.Glu1161Asp) c.3371G>C (p.Arg1124Thr) n.3452G>C c.3147G>C (p.Glu1049Asp) c.3558G>C (p.Glu1186Asp) c.*3200G>C (n.*3200G>C) n.3583G>C c.151+6799G>C (n.151+6799G>C) c.703G>C (n.703G>C) c.1014G>C (p.Glu338Asp) c.3480G>C (p.Glu1160Asp) c.656-731G>C (n.656-731G>C) c.3411G>C (p.Glu1137Asp) c.3474G>C (p.Glu1158Asp) c.3462G>C (p.Glu1154Asp) | |
| 2 | g.144389613C>T | CA429441102 | ZEB2 | c.*3332G>A (n.*3332G>A) c.2706G>A (p.Glu902=) c.3483G>A (p.Glu1161=) c.3371G>A (p.Arg1124Lys) n.3452G>A c.3147G>A (p.Glu1049=) c.3558G>A (p.Glu1186=) c.*3200G>A (n.*3200G>A) n.3583G>A c.151+6799G>A (n.151+6799G>A) c.703G>A (n.703G>A) c.1014G>A (p.Glu338=) c.3480G>A (p.Glu1160=) c.656-731G>A (n.656-731G>A) c.3411G>A (p.Glu1137=) c.3474G>A (p.Glu1158=) c.3462G>A (p.Glu1154=) | gnomAD v4 |