| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101753408C>A | CA386292231 | GNPTAB | c.3566G>T (p.Arg1189Leu) c.464G>T (n.464G>T) c.3485G>T (p.Arg1162Leu) c.3350G>T (p.Arg1117Leu) c.2339G>T (p.Arg780Leu) | |
| 12 | g.101753408C= | CA2058950546 | GNPTAB | c.3566G= (p.Arg1189=) c.464G= (n.464G=) c.3485G= (p.Arg1162=) c.3350G= (p.Arg1117=) c.2339G= (p.Arg780=) | |
| 12 | g.101753408C>G | CA386292233 | GNPTAB | c.3566G>C (p.Arg1189Pro) c.464G>C (n.464G>C) c.3485G>C (p.Arg1162Pro) c.3350G>C (p.Arg1117Pro) c.2339G>C (p.Arg780Pro) | |
| 12 | g.101753408C>T | CA6746118 | GNPTAB | c.3566G>A (p.Arg1189Gln) c.464G>A (n.464G>A) c.3485G>A (p.Arg1162Gln) c.3350G>A (p.Arg1117Gln) c.2339G>A (p.Arg780Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.101753408_101753409insT | CA2695217189 | GNPTAB | c.3565_3566insA (p.Arg1189GlnfsTer9) c.463_464insA (n.463_464insA) c.3484_3485insA (p.Arg1162GlnfsTer9) c.3349_3350insA (p.Arg1117GlnfsTer9) c.2338_2339insA (p.Arg780GlnfsTer9) | |
| 12 | g.101753409G>A | CA340009 | GNPTAB | c.3565C>T (p.Arg1189Ter) c.463C>T (n.463C>T) c.3484C>T (p.Arg1162Ter) c.3349C>T (p.Arg1117Ter) c.2338C>T (p.Arg780Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753409G>C | CA386292237 | GNPTAB | c.3565C>G (p.Arg1189Gly) c.463C>G (n.463C>G) c.3484C>G (p.Arg1162Gly) c.3349C>G (p.Arg1117Gly) c.2338C>G (p.Arg780Gly) | dbSNP gnomAD v4 |
| 12 | g.101753409G= | CA2058950547 | GNPTAB | c.3565C= (p.Arg1189=) c.463C= (n.463C=) c.3484C= (p.Arg1162=) c.3349C= (p.Arg1117=) c.2338C= (p.Arg780=) | |
| 12 | g.101753409G>T | CA481317550 | GNPTAB | c.3565C>A (p.Arg1189=) c.463C>A (n.463C>A) c.3484C>A (p.Arg1162=) c.3349C>A (p.Arg1117=) c.2338C>A (p.Arg780=) | |
| 12 | g.101753410A>C | CA386292240 | GNPTAB | c.3564T>G (p.Tyr1188Ter) c.462T>G (n.462T>G) c.3483T>G (p.Tyr1161Ter) c.3348T>G (p.Tyr1116Ter) c.2337T>G (p.Tyr779Ter) | |
| 12 | g.101753410A>G | CA481317552 | GNPTAB | c.3564T>C (p.Tyr1188=) c.462T>C (n.462T>C) c.3483T>C (p.Tyr1161=) c.3348T>C (p.Tyr1116=) c.2337T>C (p.Tyr779=) | |
| 12 | g.101753410A>T | CA386292241 | GNPTAB | c.3564T>A (p.Tyr1188Ter) c.462T>A (n.462T>A) c.3483T>A (p.Tyr1161Ter) c.3348T>A (p.Tyr1116Ter) c.2337T>A (p.Tyr779Ter) | |
| 12 | g.101753411T>A | CA386292244 | GNPTAB | c.3563A>T (p.Tyr1188Phe) c.461A>T (n.461A>T) c.3482A>T (p.Tyr1161Phe) c.3347A>T (p.Tyr1116Phe) c.2336A>T (p.Tyr779Phe) | |
| 12 | g.101753411T>C | CA386292245 | GNPTAB | c.3563A>G (p.Tyr1188Cys) c.461A>G (n.461A>G) c.3482A>G (p.Tyr1161Cys) c.3347A>G (p.Tyr1116Cys) c.2336A>G (p.Tyr779Cys) | |
| 12 | g.101753411T>G | CA386292247 | GNPTAB | c.3563A>C (p.Tyr1188Ser) c.461A>C (n.461A>C) c.3482A>C (p.Tyr1161Ser) c.3347A>C (p.Tyr1116Ser) c.2336A>C (p.Tyr779Ser) | |
| 12 | g.101753412A= | CA2058950549 | GNPTAB | c.3562T= (p.Tyr1188=) c.460T= (n.460T=) c.3481T= (p.Tyr1161=) c.3346T= (p.Tyr1116=) c.2335T= (p.Tyr779=) | |
| 12 | g.101753412A>C | CA242447649 | GNPTAB | c.3562T>G (p.Tyr1188Asp) c.460T>G (n.460T>G) c.3481T>G (p.Tyr1161Asp) c.3346T>G (p.Tyr1116Asp) c.2335T>G (p.Tyr779Asp) | dbSNP |
| 12 | g.101753412A>G | CA386292250 | GNPTAB | c.3562T>C (p.Tyr1188His) c.460T>C (n.460T>C) c.3481T>C (p.Tyr1161His) c.3346T>C (p.Tyr1116His) c.2335T>C (p.Tyr779His) | |
| 12 | g.101753412A>T | CA386292252 | GNPTAB | c.3562T>A (p.Tyr1188Asn) c.460T>A (n.460T>A) c.3481T>A (p.Tyr1161Asn) c.3346T>A (p.Tyr1116Asn) c.2335T>A (p.Tyr779Asn) | |
| 12 | g.101753412_101753414delinsACT | CA2058950548 | GNPTAB | c.3560_3562delinsAGT (p.Glu1187=) c.458_460delinsAGT (n.458_460delinsAGT) c.3479_3481delinsAGT (p.Glu1160=) c.3344_3346delinsAGT (p.Glu1115=) c.2333_2335delinsAGT (p.Glu778=) | |
| 12 | g.101753413C>A | CA386292254 | GNPTAB | c.3561G>T (p.Glu1187Asp) c.459G>T (n.459G>T) c.3480G>T (p.Glu1160Asp) c.3345G>T (p.Glu1115Asp) c.2334G>T (p.Glu778Asp) | |
| 12 | g.101753413C>G | CA386292257 | GNPTAB | c.3561G>C (p.Glu1187Asp) c.459G>C (n.459G>C) c.3480G>C (p.Glu1160Asp) c.3345G>C (p.Glu1115Asp) c.2334G>C (p.Glu778Asp) | |
| 12 | g.101753413C>T | CA481317554 | GNPTAB | c.3561G>A (p.Glu1187=) c.459G>A (n.459G>A) c.3480G>A (p.Glu1160=) c.3345G>A (p.Glu1115=) c.2334G>A (p.Glu778=) | |
| 12 | g.101753417_101753418del | CA275054 | GNPTAB | c.3560_3561del (p.Glu1187ValfsTer10) c.458_459del (n.458_459del) c.3479_3480del (p.Glu1160ValfsTer10) c.3344_3345del (p.Glu1115ValfsTer10) c.2333_2334del (p.Glu778ValfsTer10) | ClinVar dbSNP ExAC gnomAD v4 |
| 12 | g.101753414T>A | CA386292260 | GNPTAB | c.3560A>T (p.Glu1187Val) c.458A>T (n.458A>T) c.3479A>T (p.Glu1160Val) c.3344A>T (p.Glu1115Val) c.2333A>T (p.Glu778Val) | dbSNP |
| 12 | g.101753414T>C | CA386292262 | GNPTAB | c.3560A>G (p.Glu1187Gly) c.458A>G (n.458A>G) c.3479A>G (p.Glu1160Gly) c.3344A>G (p.Glu1115Gly) c.2333A>G (p.Glu778Gly) | gnomAD v4 |
| 12 | g.101753414T>G | CA386292264 | GNPTAB | c.3560A>C (p.Glu1187Ala) c.458A>C (n.458A>C) c.3479A>C (p.Glu1160Ala) c.3344A>C (p.Glu1115Ala) c.2333A>C (p.Glu778Ala) | |
| 12 | g.101753414T= | CA2058950550 | GNPTAB | c.3560A= (p.Glu1187=) c.458A= (n.458A=) c.3479A= (p.Glu1160=) c.3344A= (p.Glu1115=) c.2333A= (p.Glu778=) | |
| 12 | g.101753415C>A | CA386292266 | GNPTAB | c.3559G>T (p.Glu1187Ter) c.457G>T (n.457G>T) c.3478G>T (p.Glu1160Ter) c.3343G>T (p.Glu1115Ter) c.2332G>T (p.Glu778Ter) | |
| 12 | g.101753415C>G | CA386292267 | GNPTAB | c.3559G>C (p.Glu1187Gln) c.457G>C (n.457G>C) c.3478G>C (p.Glu1160Gln) c.3343G>C (p.Glu1115Gln) c.2332G>C (p.Glu778Gln) | |
| 12 | g.101753415C>T | CA386292269 | GNPTAB | c.3559G>A (p.Glu1187Lys) c.457G>A (n.457G>A) c.3478G>A (p.Glu1160Lys) c.3343G>A (p.Glu1115Lys) c.2332G>A (p.Glu778Lys) | |
| 12 | g.101753416T>A | CA386292271 | GNPTAB | c.3558A>T (p.Arg1186Ser) c.456A>T (n.456A>T) c.3477A>T (p.Arg1159Ser) c.3342A>T (p.Arg1114Ser) c.2331A>T (p.Arg777Ser) | |
| 12 | g.101753416T>C | CA481317562 | GNPTAB | c.3558A>G (p.Arg1186=) c.456A>G (n.456A>G) c.3477A>G (p.Arg1159=) c.3342A>G (p.Arg1114=) c.2331A>G (p.Arg777=) | ClinVar dbSNP |
| 12 | g.101753416T>G | CA386292273 | GNPTAB | c.3558A>C (p.Arg1186Ser) c.456A>C (n.456A>C) c.3477A>C (p.Arg1159Ser) c.3342A>C (p.Arg1114Ser) c.2331A>C (p.Arg777Ser) | |
| 12 | g.101753417C>A | CA386292276 | GNPTAB | c.3557G>T (p.Arg1186Ile) c.455G>T (n.455G>T) c.3476G>T (p.Arg1159Ile) c.3341G>T (p.Arg1114Ile) c.2330G>T (p.Arg777Ile) | |
| 12 | g.101753417C>G | CA386292278 | GNPTAB | c.3557G>C (p.Arg1186Thr) c.455G>C (n.455G>C) c.3476G>C (p.Arg1159Thr) c.3341G>C (p.Arg1114Thr) c.2330G>C (p.Arg777Thr) | |
| 12 | g.101753417C>T | CA386292279 | GNPTAB | c.3557G>A (p.Arg1186Lys) c.455G>A (n.455G>A) c.3476G>A (p.Arg1159Lys) c.3341G>A (p.Arg1114Lys) c.2330G>A (p.Arg777Lys) | |
| 12 | g.101753418T>A | CA386292280 | GNPTAB | c.3556A>T (p.Arg1186Ter) c.454A>T (n.454A>T) c.3475A>T (p.Arg1159Ter) c.3340A>T (p.Arg1114Ter) c.2329A>T (p.Arg777Ter) | |
| 12 | g.101753418T>C | CA386292281 | GNPTAB | c.3556A>G (p.Arg1186Gly) c.454A>G (n.454A>G) c.3475A>G (p.Arg1159Gly) c.3340A>G (p.Arg1114Gly) c.2329A>G (p.Arg777Gly) | |
| 12 | g.101753418T>G | CA481317566 | GNPTAB | c.3556A>C (p.Arg1186=) c.454A>C (n.454A>C) c.3475A>C (p.Arg1159=) c.3340A>C (p.Arg1114=) c.2329A>C (p.Arg777=) | |
| 12 | g.101753419T>A | CA481317567 | GNPTAB | c.3555A>T (p.Pro1185=) c.453A>T (n.453A>T) c.3474A>T (p.Pro1158=) c.3339A>T (p.Pro1113=) c.2328A>T (p.Pro776=) | |
| 12 | g.101753419T>C | CA6746119 | GNPTAB | c.3555A>G (p.Pro1185=) c.453A>G (n.453A>G) c.3474A>G (p.Pro1158=) c.3339A>G (p.Pro1113=) c.2328A>G (p.Pro776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753419T>G | CA481317569 | GNPTAB | c.3555A>C (p.Pro1185=) c.453A>C (n.453A>C) c.3474A>C (p.Pro1158=) c.3339A>C (p.Pro1113=) c.2328A>C (p.Pro776=) | |
| 12 | g.101753419T= | CA2058950551 | GNPTAB | c.3555A= (p.Pro1185=) c.453A= (n.453A=) c.3474A= (p.Pro1158=) c.3339A= (p.Pro1113=) c.2328A= (p.Pro776=) | |
| 12 | g.101753420G>A | CA386292291 | GNPTAB | c.3554C>T (p.Pro1185Leu) c.452C>T (n.452C>T) c.3473C>T (p.Pro1158Leu) c.3338C>T (p.Pro1113Leu) c.2327C>T (p.Pro776Leu) | dbSNP gnomAD v4 |
| 12 | g.101753420G>C | CA386292284 | GNPTAB | c.3554C>G (p.Pro1185Arg) c.452C>G (n.452C>G) c.3473C>G (p.Pro1158Arg) c.3338C>G (p.Pro1113Arg) c.2327C>G (p.Pro776Arg) | |
| 12 | g.101753420G= | CA2058950552 | GNPTAB | c.3554C= (p.Pro1185=) c.452C= (n.452C=) c.3473C= (p.Pro1158=) c.3338C= (p.Pro1113=) c.2327C= (p.Pro776=) | |
| 12 | g.101753420G>T | CA386292286 | GNPTAB | c.3554C>A (p.Pro1185Gln) c.452C>A (n.452C>A) c.3473C>A (p.Pro1158Gln) c.3338C>A (p.Pro1113Gln) c.2327C>A (p.Pro776Gln) | |
| 12 | g.101753421G>A | CA386292294 | GNPTAB | c.3553C>T (p.Pro1185Ser) c.451C>T (n.451C>T) c.3472C>T (p.Pro1158Ser) c.3337C>T (p.Pro1113Ser) c.2326C>T (p.Pro776Ser) | |
| 12 | g.101753421G>C | CA386292296 | GNPTAB | c.3553C>G (p.Pro1185Ala) c.451C>G (n.451C>G) c.3472C>G (p.Pro1158Ala) c.3337C>G (p.Pro1113Ala) c.2326C>G (p.Pro776Ala) |