Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
12 | g.101753421G>T | CA386292298 | GNPTAB | c.3553C>A (p.Pro1185Thr) c.451C>A (n.451C>A) c.3472C>A (p.Pro1158Thr) c.3337C>A (p.Pro1113Thr) c.2326C>A (p.Pro776Thr) | gnomAD v4 |
12 | g.101753422del | CA2620426039 | GNPTAB | c.3552del (p.Pro1185GlnfsTer24) c.450del (n.450del) c.3471del (p.Pro1158GlnfsTer24) c.3336del (p.Pro1113GlnfsTer24) c.2325del (p.Pro776GlnfsTer24) | ClinVar gnomAD v4 |
12 | g.101753422C>A | CA481317571 | GNPTAB | c.3552G>T (p.Leu1184=) c.450G>T (n.450G>T) c.3471G>T (p.Leu1157=) c.3336G>T (p.Leu1112=) c.2325G>T (p.Leu775=) | |
12 | g.101753422C= | CA2058950553 | GNPTAB | c.3552G= (p.Leu1184=) c.450G= (n.450G=) c.3471G= (p.Leu1157=) c.3336G= (p.Leu1112=) c.2325G= (p.Leu775=) | |
12 | g.101753422C>G | CA481317572 | GNPTAB | c.3552G>C (p.Leu1184=) c.450G>C (n.450G>C) c.3471G>C (p.Leu1157=) c.3336G>C (p.Leu1112=) c.2325G>C (p.Leu775=) | dbSNP |
12 | g.101753422C>T | CA6746120 | GNPTAB | c.3552G>A (p.Leu1184=) c.450G>A (n.450G>A) c.3471G>A (p.Leu1157=) c.3336G>A (p.Leu1112=) c.2325G>A (p.Leu775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753423A>C | CA386292301 | GNPTAB | c.3551T>G (p.Leu1184Arg) c.449T>G (n.449T>G) c.3470T>G (p.Leu1157Arg) c.3335T>G (p.Leu1112Arg) c.2324T>G (p.Leu775Arg) | |
12 | g.101753423A>G | CA386292304 | GNPTAB | c.3551T>C (p.Leu1184Pro) c.449T>C (n.449T>C) c.3470T>C (p.Leu1157Pro) c.3335T>C (p.Leu1112Pro) c.2324T>C (p.Leu775Pro) | |
12 | g.101753423A>T | CA386292305 | GNPTAB | c.3551T>A (p.Leu1184Gln) c.449T>A (n.449T>A) c.3470T>A (p.Leu1157Gln) c.3335T>A (p.Leu1112Gln) c.2324T>A (p.Leu775Gln) | |
12 | g.101753424G>A | CA481317575 | GNPTAB | c.3550C>T (p.Leu1184=) c.448C>T (n.448C>T) c.3469C>T (p.Leu1157=) c.3334C>T (p.Leu1112=) c.2323C>T (p.Leu775=) | |
12 | g.101753424G>C | CA386292307 | GNPTAB | c.3550C>G (p.Leu1184Val) c.448C>G (n.448C>G) c.3469C>G (p.Leu1157Val) c.3334C>G (p.Leu1112Val) c.2323C>G (p.Leu775Val) | |
12 | g.101753424G>T | CA386292309 | GNPTAB | c.3550C>A (p.Leu1184Met) c.448C>A (n.448C>A) c.3469C>A (p.Leu1157Met) c.3334C>A (p.Leu1112Met) c.2323C>A (p.Leu775Met) | |
12 | g.101753425T>A | CA386292311 | GNPTAB | c.3549A>T (p.Glu1183Asp) c.447A>T (n.447A>T) c.3468A>T (p.Glu1156Asp) c.3333A>T (p.Glu1111Asp) c.2322A>T (p.Glu774Asp) | |
12 | g.101753425T>C | CA481317579 | GNPTAB | c.3549A>G (p.Glu1183=) c.447A>G (n.447A>G) c.3468A>G (p.Glu1156=) c.3333A>G (p.Glu1111=) c.2322A>G (p.Glu774=) | dbSNP |
12 | g.101753425T>G | CA386292313 | GNPTAB | c.3549A>C (p.Glu1183Asp) c.447A>C (n.447A>C) c.3468A>C (p.Glu1156Asp) c.3333A>C (p.Glu1111Asp) c.2322A>C (p.Glu774Asp) | |
12 | g.101753426T>A | CA386292315 | GNPTAB | c.3548A>T (p.Glu1183Val) c.446A>T (n.446A>T) c.3467A>T (p.Glu1156Val) c.3332A>T (p.Glu1111Val) c.2321A>T (p.Glu774Val) | |
12 | g.101753426T>C | CA386292320 | GNPTAB | c.3548A>G (p.Glu1183Gly) c.446A>G (n.446A>G) c.3467A>G (p.Glu1156Gly) c.3332A>G (p.Glu1111Gly) c.2321A>G (p.Glu774Gly) | |
12 | g.101753426T>G | CA386292318 | GNPTAB | c.3548A>C (p.Glu1183Ala) c.446A>C (n.446A>C) c.3467A>C (p.Glu1156Ala) c.3332A>C (p.Glu1111Ala) c.2321A>C (p.Glu774Ala) | |
12 | g.101753427C>A | CA386292322 | GNPTAB | c.3547G>T (p.Glu1183Ter) c.445G>T (n.445G>T) c.3466G>T (p.Glu1156Ter) c.3331G>T (p.Glu1111Ter) c.2320G>T (p.Glu774Ter) | |
12 | g.101753427C>G | CA386292324 | GNPTAB | c.3547G>C (p.Glu1183Gln) c.445G>C (n.445G>C) c.3466G>C (p.Glu1156Gln) c.3331G>C (p.Glu1111Gln) c.2320G>C (p.Glu774Gln) | |
12 | g.101753427C>T | CA386292326 | GNPTAB | c.3547G>A (p.Glu1183Lys) c.445G>A (n.445G>A) c.3466G>A (p.Glu1156Lys) c.3331G>A (p.Glu1111Lys) c.2320G>A (p.Glu774Lys) | |
12 | g.101753428A>C | CA386292329 | GNPTAB | c.3546T>G (p.Phe1182Leu) c.444T>G (n.444T>G) c.3465T>G (p.Phe1155Leu) c.3330T>G (p.Phe1110Leu) c.2319T>G (p.Phe773Leu) | |
12 | g.101753428A>G | CA481317582 | GNPTAB | c.3546T>C (p.Phe1182=) c.444T>C (n.444T>C) c.3465T>C (p.Phe1155=) c.3330T>C (p.Phe1110=) c.2319T>C (p.Phe773=) | |
12 | g.101753428A>T | CA386292330 | GNPTAB | c.3546T>A (p.Phe1182Leu) c.444T>A (n.444T>A) c.3465T>A (p.Phe1155Leu) c.3330T>A (p.Phe1110Leu) c.2319T>A (p.Phe773Leu) | |
12 | g.101753429A>C | CA386292331 | GNPTAB | c.3545T>G (p.Phe1182Cys) c.443T>G (n.443T>G) c.3464T>G (p.Phe1155Cys) c.3329T>G (p.Phe1110Cys) c.2318T>G (p.Phe773Cys) | |
12 | g.101753429A>G | CA386292333 | GNPTAB | c.3545T>C (p.Phe1182Ser) c.443T>C (n.443T>C) c.3464T>C (p.Phe1155Ser) c.3329T>C (p.Phe1110Ser) c.2318T>C (p.Phe773Ser) | |
12 | g.101753429A>T | CA386292335 | GNPTAB | c.3545T>A (p.Phe1182Tyr) c.443T>A (n.443T>A) c.3464T>A (p.Phe1155Tyr) c.3329T>A (p.Phe1110Tyr) c.2318T>A (p.Phe773Tyr) | |
12 | g.101753430A>C | CA386292337 | GNPTAB | c.3544T>G (p.Phe1182Val) c.442T>G (n.442T>G) c.3463T>G (p.Phe1155Val) c.3328T>G (p.Phe1110Val) c.2317T>G (p.Phe773Val) | |
12 | g.101753430A>G | CA386292339 | GNPTAB | c.3544T>C (p.Phe1182Leu) c.442T>C (n.442T>C) c.3463T>C (p.Phe1155Leu) c.3328T>C (p.Phe1110Leu) c.2317T>C (p.Phe773Leu) | |
12 | g.101753430A>T | CA386292341 | GNPTAB | c.3544T>A (p.Phe1182Ile) c.442T>A (n.442T>A) c.3463T>A (p.Phe1155Ile) c.3328T>A (p.Phe1110Ile) c.2317T>A (p.Phe773Ile) | |
12 | g.101753430_101753431delinsAT | CA2058950554 | GNPTAB | c.3543_3544delinsAT (p.Gln1181=) c.441_442delinsAT (n.441_442delinsAT) c.3462_3463delinsAT (p.Gln1154=) c.3327_3328delinsAT (p.Gln1109=) c.2316_2317delinsAT (p.Gln772=) | |
12 | g.101753431T>A | CA386292345 | GNPTAB | c.3543A>T (p.Gln1181His) c.441A>T (n.441A>T) c.3462A>T (p.Gln1154His) c.3327A>T (p.Gln1109His) c.2316A>T (p.Gln772His) | |
12 | g.101753431T>C | CA481317589 | GNPTAB | c.3543A>G (p.Gln1181=) c.441A>G (n.441A>G) c.3462A>G (p.Gln1154=) c.3327A>G (p.Gln1109=) c.2316A>G (p.Gln772=) | dbSNP |
12 | g.101753431T>G | CA386292343 | GNPTAB | c.3543A>C (p.Gln1181His) c.441A>C (n.441A>C) c.3462A>C (p.Gln1154His) c.3327A>C (p.Gln1109His) c.2316A>C (p.Gln772His) | |
12 | g.101753431T= | CA2058950556 | GNPTAB | c.3543A= (p.Gln1181=) c.441A= (n.441A=) c.3462A= (p.Gln1154=) c.3327A= (p.Gln1109=) c.2316A= (p.Gln772=) | |
12 | g.101753432del | CA2058950555 | GNPTAB | c.3543del (p.Gln1181HisfsTer28) c.441del (n.441del) c.3462del (p.Gln1154HisfsTer28) c.3327del (p.Gln1109HisfsTer28) c.2316del (p.Gln772HisfsTer28) | dbSNP |
12 | g.101753432T>A | CA386292348 | GNPTAB | c.3542A>T (p.Gln1181Leu) c.440A>T (n.440A>T) c.3461A>T (p.Gln1154Leu) c.3326A>T (p.Gln1109Leu) c.2315A>T (p.Gln772Leu) | |
12 | g.101753432T>C | CA386292349 | GNPTAB | c.3542A>G (p.Gln1181Arg) c.440A>G (n.440A>G) c.3461A>G (p.Gln1154Arg) c.3326A>G (p.Gln1109Arg) c.2315A>G (p.Gln772Arg) | |
12 | g.101753432T>G | CA386292351 | GNPTAB | c.3542A>C (p.Gln1181Pro) c.440A>C (n.440A>C) c.3461A>C (p.Gln1154Pro) c.3326A>C (p.Gln1109Pro) c.2315A>C (p.Gln772Pro) | |
12 | g.101753433G>A | CA386292354 | GNPTAB | c.3541C>T (p.Gln1181Ter) c.439C>T (n.439C>T) c.3460C>T (p.Gln1154Ter) c.3325C>T (p.Gln1109Ter) c.2314C>T (p.Gln772Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753433G>C | CA386292355 | GNPTAB | c.3541C>G (p.Gln1181Glu) c.439C>G (n.439C>G) c.3460C>G (p.Gln1154Glu) c.3325C>G (p.Gln1109Glu) c.2314C>G (p.Gln772Glu) | |
12 | g.101753433G= | CA2058950557 | GNPTAB | c.3541C= (p.Gln1181=) c.439C= (n.439C=) c.3460C= (p.Gln1154=) c.3325C= (p.Gln1109=) c.2314C= (p.Gln772=) | |
12 | g.101753433G>T | CA386292357 | GNPTAB | c.3541C>A (p.Gln1181Lys) c.439C>A (n.439C>A) c.3460C>A (p.Gln1154Lys) c.3325C>A (p.Gln1109Lys) c.2314C>A (p.Gln772Lys) | |
12 | g.101753434G>A | CA481317592 | GNPTAB | c.3540C>T (p.Ser1180=) c.438C>T (n.438C>T) c.3459C>T (p.Ser1153=) c.3324C>T (p.Ser1108=) c.2313C>T (p.Ser771=) | ClinVar dbSNP gnomAD v4 |
12 | g.101753434G>C | CA6746121 | GNPTAB | c.3540C>G (p.Ser1180=) c.438C>G (n.438C>G) c.3459C>G (p.Ser1153=) c.3324C>G (p.Ser1108=) c.2313C>G (p.Ser771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753434G= | CA2058950558 | GNPTAB | c.3540C= (p.Ser1180=) c.438C= (n.438C=) c.3459C= (p.Ser1153=) c.3324C= (p.Ser1108=) c.2313C= (p.Ser771=) | |
12 | g.101753434G>T | CA481317594 | GNPTAB | c.3540C>A (p.Ser1180=) c.438C>A (n.438C>A) c.3459C>A (p.Ser1153=) c.3324C>A (p.Ser1108=) c.2313C>A (p.Ser771=) | |
12 | g.101753435G>A | CA16609423 | GNPTAB | c.3539C>T (p.Ser1180Phe) c.437C>T (n.437C>T) c.3458C>T (p.Ser1153Phe) c.3323C>T (p.Ser1108Phe) c.2312C>T (p.Ser771Phe) | ClinVar dbSNP |
12 | g.101753435G>C | CA386292361 | GNPTAB | c.3539C>G (p.Ser1180Cys) c.437C>G (n.437C>G) c.3458C>G (p.Ser1153Cys) c.3323C>G (p.Ser1108Cys) c.2312C>G (p.Ser771Cys) | |
12 | g.101753435G= | CA2058950559 | GNPTAB | c.3539C= (p.Ser1180=) c.437C= (n.437C=) c.3458C= (p.Ser1153=) c.3323C= (p.Ser1108=) c.2312C= (p.Ser771=) | |
12 | g.101753435G>T | CA386292362 | GNPTAB | c.3539C>A (p.Ser1180Tyr) c.437C>A (n.437C>A) c.3458C>A (p.Ser1153Tyr) c.3323C>A (p.Ser1108Tyr) c.2312C>A (p.Ser771Tyr) | |
12 | g.101753436A>C | CA386292364 | GNPTAB | c.3538T>G (p.Ser1180Ala) c.436T>G (n.436T>G) c.3457T>G (p.Ser1153Ala) c.3322T>G (p.Ser1108Ala) c.2311T>G (p.Ser771Ala) | |
12 | g.101753436A>G | CA386292366 | GNPTAB | c.3538T>C (p.Ser1180Pro) c.436T>C (n.436T>C) c.3457T>C (p.Ser1153Pro) c.3322T>C (p.Ser1108Pro) c.2311T>C (p.Ser771Pro) | |
12 | g.101753436A>T | CA386292368 | GNPTAB | c.3538T>A (p.Ser1180Thr) c.436T>A (n.436T>A) c.3457T>A (p.Ser1153Thr) c.3322T>A (p.Ser1108Thr) c.2311T>A (p.Ser771Thr) | |
12 | g.101753437A>C | CA481317598 | GNPTAB | c.3537T>G (p.Pro1179=) c.435T>G (n.435T>G) c.3456T>G (p.Pro1152=) c.3321T>G (p.Pro1107=) c.2310T>G (p.Pro770=) | |
12 | g.101753437A>G | CA481317600 | GNPTAB | c.3537T>C (p.Pro1179=) c.435T>C (n.435T>C) c.3456T>C (p.Pro1152=) c.3321T>C (p.Pro1107=) c.2310T>C (p.Pro770=) | |
12 | g.101753437A>T | CA481317601 | GNPTAB | c.3537T>A (p.Pro1179=) c.435T>A (n.435T>A) c.3456T>A (p.Pro1152=) c.3321T>A (p.Pro1107=) c.2310T>A (p.Pro770=) | |
12 | g.101753438G>A | CA386292373 | GNPTAB | c.3536C>T (p.Pro1179Leu) c.434C>T (n.434C>T) c.3455C>T (p.Pro1152Leu) c.3320C>T (p.Pro1107Leu) c.2309C>T (p.Pro770Leu) | |
12 | g.101753438G>C | CA386292375 | GNPTAB | c.3536C>G (p.Pro1179Arg) c.434C>G (n.434C>G) c.3455C>G (p.Pro1152Arg) c.3320C>G (p.Pro1107Arg) c.2309C>G (p.Pro770Arg) | |
12 | g.101753438G>T | CA386292371 | GNPTAB | c.3536C>A (p.Pro1179His) c.434C>A (n.434C>A) c.3455C>A (p.Pro1152His) c.3320C>A (p.Pro1107His) c.2309C>A (p.Pro770His) | |
12 | g.101753439G>A | CA386292377 | GNPTAB | c.3535C>T (p.Pro1179Ser) c.433C>T (n.433C>T) c.3454C>T (p.Pro1152Ser) c.3319C>T (p.Pro1107Ser) c.2308C>T (p.Pro770Ser) | |
12 | g.101753439G>C | CA386292379 | GNPTAB | c.3535C>G (p.Pro1179Ala) c.433C>G (n.433C>G) c.3454C>G (p.Pro1152Ala) c.3319C>G (p.Pro1107Ala) c.2308C>G (p.Pro770Ala) | |
12 | g.101753439G>T | CA386292381 | GNPTAB | c.3535C>A (p.Pro1179Thr) c.433C>A (n.433C>A) c.3454C>A (p.Pro1152Thr) c.3319C>A (p.Pro1107Thr) c.2308C>A (p.Pro770Thr) | gnomAD v4 |
12 | g.101753440T>A | CA481317607 | GNPTAB | c.3534A>T (p.Ile1178=) c.432A>T (n.432A>T) c.3453A>T (p.Ile1151=) c.3318A>T (p.Ile1106=) c.2307A>T (p.Ile769=) | |
12 | g.101753440T>C | CA6746122 | GNPTAB | c.3534A>G (p.Ile1178Met) c.432A>G (n.432A>G) c.3453A>G (p.Ile1151Met) c.3318A>G (p.Ile1106Met) c.2307A>G (p.Ile769Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753440T>G | CA481317608 | GNPTAB | c.3534A>C (p.Ile1178=) c.432A>C (n.432A>C) c.3453A>C (p.Ile1151=) c.3318A>C (p.Ile1106=) c.2307A>C (p.Ile769=) | |
12 | g.101753440T= | CA2058950560 | GNPTAB | c.3534A= (p.Ile1178=) c.432A= (n.432A=) c.3453A= (p.Ile1151=) c.3318A= (p.Ile1106=) c.2307A= (p.Ile769=) | |
12 | g.101753441A>C | CA386292389 | GNPTAB | c.3533T>G (p.Ile1178Arg) c.431T>G (n.431T>G) c.3452T>G (p.Ile1151Arg) c.3317T>G (p.Ile1106Arg) c.2306T>G (p.Ile769Arg) | |
12 | g.101753441A>G | CA386292387 | GNPTAB | c.3533T>C (p.Ile1178Thr) c.431T>C (n.431T>C) c.3452T>C (p.Ile1151Thr) c.3317T>C (p.Ile1106Thr) c.2306T>C (p.Ile769Thr) | gnomAD v4 |
12 | g.101753441A>T | CA386292385 | GNPTAB | c.3533T>A (p.Ile1178Lys) c.431T>A (n.431T>A) c.3452T>A (p.Ile1151Lys) c.3317T>A (p.Ile1106Lys) c.2306T>A (p.Ile769Lys) | |
12 | g.101753442del | CA2575264832 | GNPTAB | c.3532del (p.Ile1178TyrfsTer?) c.430del (n.430del) c.3451del (p.Ile1151TyrfsTer?) c.3316del (p.Ile1106TyrfsTer?) c.2305del (p.Ile769TyrfsTer?) | gnomAD v4 |
12 | g.101753442T>A | CA386292391 | GNPTAB | c.3532A>T (p.Ile1178Leu) c.430A>T (n.430A>T) c.3451A>T (p.Ile1151Leu) c.3316A>T (p.Ile1106Leu) c.2305A>T (p.Ile769Leu) | |
12 | g.101753442T>C | CA386292392 | GNPTAB | c.3532A>G (p.Ile1178Val) c.430A>G (n.430A>G) c.3451A>G (p.Ile1151Val) c.3316A>G (p.Ile1106Val) c.2305A>G (p.Ile769Val) | gnomAD v4 |
12 | g.101753442T>G | CA6746123 | GNPTAB | c.3532A>C (p.Ile1178Leu) c.430A>C (n.430A>C) c.3451A>C (p.Ile1151Leu) c.3316A>C (p.Ile1106Leu) c.2305A>C (p.Ile769Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753442T= | CA2058950561 | GNPTAB | c.3532A= (p.Ile1178=) c.430A= (n.430A=) c.3451A= (p.Ile1151=) c.3316A= (p.Ile1106=) c.2305A= (p.Ile769=) | |
12 | g.101753443G>A | CA481317612 | GNPTAB | c.3531C>T (p.Pro1177=) c.429C>T (n.429C>T) c.3450C>T (p.Pro1150=) c.3315C>T (p.Pro1105=) c.2304C>T (p.Pro768=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753443G>C | CA481317614 | GNPTAB | c.3531C>G (p.Pro1177=) c.429C>G (n.429C>G) c.3450C>G (p.Pro1150=) c.3315C>G (p.Pro1105=) c.2304C>G (p.Pro768=) | ClinVar |
12 | g.101753443G= | CA2058950562 | GNPTAB | c.3531C= (p.Pro1177=) c.429C= (n.429C=) c.3450C= (p.Pro1150=) c.3315C= (p.Pro1105=) c.2304C= (p.Pro768=) | |
12 | g.101753443G>T | CA481317615 | GNPTAB | c.3531C>A (p.Pro1177=) c.429C>A (n.429C>A) c.3450C>A (p.Pro1150=) c.3315C>A (p.Pro1105=) c.2304C>A (p.Pro768=) | |
12 | g.101753444G>A | CA386292396 | GNPTAB | c.3530C>T (p.Pro1177Leu) c.428C>T (n.428C>T) c.3449C>T (p.Pro1150Leu) c.3314C>T (p.Pro1105Leu) c.2303C>T (p.Pro768Leu) | gnomAD v4 |
12 | g.101753444G>C | CA386292398 | GNPTAB | c.3530C>G (p.Pro1177Arg) c.428C>G (n.428C>G) c.3449C>G (p.Pro1150Arg) c.3314C>G (p.Pro1105Arg) c.2303C>G (p.Pro768Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753444G= | CA2058950564 | GNPTAB | c.3530C= (p.Pro1177=) c.428C= (n.428C=) c.3449C= (p.Pro1150=) c.3314C= (p.Pro1105=) c.2303C= (p.Pro768=) | |
12 | g.101753444G>T | CA386292400 | GNPTAB | c.3530C>A (p.Pro1177His) c.428C>A (n.428C>A) c.3449C>A (p.Pro1150His) c.3314C>A (p.Pro1105His) c.2303C>A (p.Pro768His) | |
12 | g.101753444_101753451delinsGGGAACAT | CA2058950563 | GNPTAB | c.3523_3530delinsATGTTCCC (p.Met1175=) c.421_428delinsATGTTCCC (n.421_428delinsATGTTCCC) c.3442_3449delinsATGTTCCC (p.Met1148=) c.3307_3314delinsATGTTCCC (p.Met1103=) c.2296_2303delinsATGTTCCC (p.Met766=) | |
12 | g.101753445G>A | CA386292406 | GNPTAB | c.3529C>T (p.Pro1177Ser) c.427C>T (n.427C>T) c.3448C>T (p.Pro1150Ser) c.3313C>T (p.Pro1105Ser) c.2302C>T (p.Pro768Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753445G>C | CA386292404 | GNPTAB | c.3529C>G (p.Pro1177Ala) c.427C>G (n.427C>G) c.3448C>G (p.Pro1150Ala) c.3313C>G (p.Pro1105Ala) c.2302C>G (p.Pro768Ala) | |
12 | g.101753445G= | CA2058950565 | GNPTAB | c.3529C= (p.Pro1177=) c.427C= (n.427C=) c.3448C= (p.Pro1150=) c.3313C= (p.Pro1105=) c.2302C= (p.Pro768=) | |
12 | g.101753445G>T | CA242447726 | GNPTAB | c.3529C>A (p.Pro1177Thr) c.427C>A (n.427C>A) c.3448C>A (p.Pro1150Thr) c.3313C>A (p.Pro1105Thr) c.2302C>A (p.Pro768Thr) | dbSNP gnomAD v2 |
12 | g.101753448_101753454del | CA343404 | GNPTAB | c.3523_3529del (p.Met1175ProfsTer?) c.421_427del (n.421_427del) c.3442_3448del (p.Met1148ProfsTer?) c.3307_3313del (p.Met1103ProfsTer?) c.2296_2302del (p.Met766ProfsTer?) | ClinVar dbSNP |
12 | g.101753446G>A | CA481317620 | GNPTAB | c.3528C>T (p.Phe1176=) c.426C>T (n.426C>T) c.3447C>T (p.Phe1149=) c.3312C>T (p.Phe1104=) c.2301C>T (p.Phe767=) | gnomAD v4 |
12 | g.101753446G>C | CA6746125 | GNPTAB | c.3528C>G (p.Phe1176Leu) c.426C>G (n.426C>G) c.3447C>G (p.Phe1149Leu) c.3312C>G (p.Phe1104Leu) c.2301C>G (p.Phe767Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753446G= | CA2058950566 | GNPTAB | c.3528C= (p.Phe1176=) c.426C= (n.426C=) c.3447C= (p.Phe1149=) c.3312C= (p.Phe1104=) c.2301C= (p.Phe767=) | |
12 | g.101753446G>T | CA6746124 | GNPTAB | c.3528C>A (p.Phe1176Leu) c.426C>A (n.426C>A) c.3447C>A (p.Phe1149Leu) c.3312C>A (p.Phe1104Leu) c.2301C>A (p.Phe767Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753447A>C | CA386292412 | GNPTAB | c.3527T>G (p.Phe1176Cys) c.425T>G (n.425T>G) c.3446T>G (p.Phe1149Cys) c.3311T>G (p.Phe1104Cys) c.2300T>G (p.Phe767Cys) | |
12 | g.101753447A>G | CA386292414 | GNPTAB | c.3527T>C (p.Phe1176Ser) c.425T>C (n.425T>C) c.3446T>C (p.Phe1149Ser) c.3311T>C (p.Phe1104Ser) c.2300T>C (p.Phe767Ser) | |
12 | g.101753447A>T | CA386292416 | GNPTAB | c.3527T>A (p.Phe1176Tyr) c.425T>A (n.425T>A) c.3446T>A (p.Phe1149Tyr) c.3311T>A (p.Phe1104Tyr) c.2300T>A (p.Phe767Tyr) | |
12 | g.101753448A>C | CA386292419 | GNPTAB | c.3526T>G (p.Phe1176Val) c.424T>G (n.424T>G) c.3445T>G (p.Phe1149Val) c.3310T>G (p.Phe1104Val) c.2299T>G (p.Phe767Val) | |
12 | g.101753448A>G | CA386292421 | GNPTAB | c.3526T>C (p.Phe1176Leu) c.424T>C (n.424T>C) c.3445T>C (p.Phe1149Leu) c.3310T>C (p.Phe1104Leu) c.2299T>C (p.Phe767Leu) | |
12 | g.101753448A>T | CA386292423 | GNPTAB | c.3526T>A (p.Phe1176Ile) c.424T>A (n.424T>A) c.3445T>A (p.Phe1149Ile) c.3310T>A (p.Phe1104Ile) c.2299T>A (p.Phe767Ile) | |
12 | g.101753449C>A | CA6746126 | GNPTAB | c.3525G>T (p.Met1175Ile) c.423G>T (n.423G>T) c.3444G>T (p.Met1148Ile) c.3309G>T (p.Met1103Ile) c.2298G>T (p.Met766Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753449C= | CA2058950567 | GNPTAB | c.3525G= (p.Met1175=) c.423G= (n.423G=) c.3444G= (p.Met1148=) c.3309G= (p.Met1103=) c.2298G= (p.Met766=) | |
12 | g.101753449C>G | CA386292426 | GNPTAB | c.3525G>C (p.Met1175Ile) c.423G>C (n.423G>C) c.3444G>C (p.Met1148Ile) c.3309G>C (p.Met1103Ile) c.2298G>C (p.Met766Ile) | |
12 | g.101753449C>T | CA386292428 | GNPTAB | c.3525G>A (p.Met1175Ile) c.423G>A (n.423G>A) c.3444G>A (p.Met1148Ile) c.3309G>A (p.Met1103Ile) c.2298G>A (p.Met766Ile) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101753450A= | CA2058950568 | GNPTAB | c.3524T= (p.Met1175=) c.422T= (n.422T=) c.3443T= (p.Met1148=) c.3308T= (p.Met1103=) c.2297T= (p.Met766=) | |
12 | g.101753450A>C | CA6746128 | GNPTAB | c.3524T>G (p.Met1175Arg) c.422T>G (n.422T>G) c.3443T>G (p.Met1148Arg) c.3308T>G (p.Met1103Arg) c.2297T>G (p.Met766Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753450A>G | CA6746127 | GNPTAB | c.3524T>C (p.Met1175Thr) c.422T>C (n.422T>C) c.3443T>C (p.Met1148Thr) c.3308T>C (p.Met1103Thr) c.2297T>C (p.Met766Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753450A>T | CA386292432 | GNPTAB | c.3524T>A (p.Met1175Lys) c.422T>A (n.422T>A) c.3443T>A (p.Met1148Lys) c.3308T>A (p.Met1103Lys) c.2297T>A (p.Met766Lys) | |
12 | g.101753451T>A | CA386292438 | GNPTAB | c.3523A>T (p.Met1175Leu) c.421A>T (n.421A>T) c.3442A>T (p.Met1148Leu) c.3307A>T (p.Met1103Leu) c.2296A>T (p.Met766Leu) | |
12 | g.101753451T>C | CA386292436 | GNPTAB | c.3523A>G (p.Met1175Val) c.421A>G (n.421A>G) c.3442A>G (p.Met1148Val) c.3307A>G (p.Met1103Val) c.2296A>G (p.Met766Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753451T>G | CA386292433 | GNPTAB | c.3523A>C (p.Met1175Leu) c.421A>C (n.421A>C) c.3442A>C (p.Met1148Leu) c.3307A>C (p.Met1103Leu) c.2296A>C (p.Met766Leu) | |
12 | g.101753451T= | CA2058950569 | GNPTAB | c.3523A= (p.Met1175=) c.421A= (n.421A=) c.3442A= (p.Met1148=) c.3307A= (p.Met1103=) c.2296A= (p.Met766=) | |
12 | g.101753452G>A | CA481317626 | GNPTAB | c.3522C>T (p.Ser1174=) c.420C>T (n.420C>T) c.3441C>T (p.Ser1147=) c.3306C>T (p.Ser1102=) c.2295C>T (p.Ser765=) | |
12 | g.101753452G>C | CA481317627 | GNPTAB | c.3522C>G (p.Ser1174=) c.420C>G (n.420C>G) c.3441C>G (p.Ser1147=) c.3306C>G (p.Ser1102=) c.2295C>G (p.Ser765=) | |
12 | g.101753452G>T | CA481317628 | GNPTAB | c.3522C>A (p.Ser1174=) c.420C>A (n.420C>A) c.3441C>A (p.Ser1147=) c.3306C>A (p.Ser1102=) c.2295C>A (p.Ser765=) | |
12 | g.101753453G>A | CA386292440 | GNPTAB | c.3521C>T (p.Ser1174Phe) c.419C>T (n.419C>T) c.3440C>T (p.Ser1147Phe) c.3305C>T (p.Ser1102Phe) c.2294C>T (p.Ser765Phe) | |
12 | g.101753453G>C | CA386292441 | GNPTAB | c.3521C>G (p.Ser1174Cys) c.419C>G (n.419C>G) c.3440C>G (p.Ser1147Cys) c.3305C>G (p.Ser1102Cys) c.2294C>G (p.Ser765Cys) | |
12 | g.101753453G>T | CA386292443 | GNPTAB | c.3521C>A (p.Ser1174Tyr) c.419C>A (n.419C>A) c.3440C>A (p.Ser1147Tyr) c.3305C>A (p.Ser1102Tyr) c.2294C>A (p.Ser765Tyr) | |
12 | g.101753454A>C | CA386292445 | GNPTAB | c.3520T>G (p.Ser1174Ala) c.418T>G (n.418T>G) c.3439T>G (p.Ser1147Ala) c.3304T>G (p.Ser1102Ala) c.2293T>G (p.Ser765Ala) | |
12 | g.101753454A>G | CA386292447 | GNPTAB | c.3520T>C (p.Ser1174Pro) c.418T>C (n.418T>C) c.3439T>C (p.Ser1147Pro) c.3304T>C (p.Ser1102Pro) c.2293T>C (p.Ser765Pro) | |
12 | g.101753454A>T | CA386292450 | GNPTAB | c.3520T>A (p.Ser1174Thr) c.418T>A (n.418T>A) c.3439T>A (p.Ser1147Thr) c.3304T>A (p.Ser1102Thr) c.2293T>A (p.Ser765Thr) | |
12 | g.101753455T>A | CA386292452 | GNPTAB | c.3519A>T (p.Glu1173Asp) c.417A>T (n.417A>T) c.3438A>T (p.Glu1146Asp) c.3303A>T (p.Glu1101Asp) c.2292A>T (p.Glu764Asp) | |
12 | g.101753455T>C | CA481317637 | GNPTAB | c.3519A>G (p.Glu1173=) c.417A>G (n.417A>G) c.3438A>G (p.Glu1146=) c.3303A>G (p.Glu1101=) c.2292A>G (p.Glu764=) | |
12 | g.101753455T>G | CA386292454 | GNPTAB | c.3519A>C (p.Glu1173Asp) c.417A>C (n.417A>C) c.3438A>C (p.Glu1146Asp) c.3303A>C (p.Glu1101Asp) c.2292A>C (p.Glu764Asp) | |
12 | g.101753456T>A | CA386292456 | GNPTAB | c.3518A>T (p.Glu1173Val) c.416A>T (n.416A>T) c.3437A>T (p.Glu1146Val) c.3302A>T (p.Glu1101Val) c.2291A>T (p.Glu764Val) | |
12 | g.101753456T>C | CA6746129 | GNPTAB | c.3518A>G (p.Glu1173Gly) c.416A>G (n.416A>G) c.3437A>G (p.Glu1146Gly) c.3302A>G (p.Glu1101Gly) c.2291A>G (p.Glu764Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753456T>G | CA386292462 | GNPTAB | c.3518A>C (p.Glu1173Ala) c.416A>C (n.416A>C) c.3437A>C (p.Glu1146Ala) c.3302A>C (p.Glu1101Ala) c.2291A>C (p.Glu764Ala) | |
12 | g.101753456T= | CA2058950570 | GNPTAB | c.3518A= (p.Glu1173=) c.416A= (n.416A=) c.3437A= (p.Glu1146=) c.3302A= (p.Glu1101=) c.2291A= (p.Glu764=) | |
12 | g.101753457C>A | CA386292464 | GNPTAB | c.3517G>T (p.Glu1173Ter) c.415G>T (n.415G>T) c.3436G>T (p.Glu1146Ter) c.3301G>T (p.Glu1101Ter) c.2290G>T (p.Glu764Ter) | |
12 | g.101753457C>G | CA386292467 | GNPTAB | c.3517G>C (p.Glu1173Gln) c.415G>C (n.415G>C) c.3436G>C (p.Glu1146Gln) c.3301G>C (p.Glu1101Gln) c.2290G>C (p.Glu764Gln) | |
12 | g.101753457C>T | CA386292468 | GNPTAB | c.3517G>A (p.Glu1173Lys) c.415G>A (n.415G>A) c.3436G>A (p.Glu1146Lys) c.3301G>A (p.Glu1101Lys) c.2290G>A (p.Glu764Lys) | |
12 | g.101753458A= | CA2058950571 | GNPTAB | c.3516T= (p.Tyr1172=) c.414T= (n.414T=) c.3435T= (p.Tyr1145=) c.3300T= (p.Tyr1100=) c.2289T= (p.Tyr763=) | |
12 | g.101753458A>C | CA386292473 | GNPTAB | c.3516T>G (p.Tyr1172Ter) c.414T>G (n.414T>G) c.3435T>G (p.Tyr1145Ter) c.3300T>G (p.Tyr1100Ter) c.2289T>G (p.Tyr763Ter) | |
12 | g.101753458A>G | CA6746130 | GNPTAB | c.3516T>C (p.Tyr1172=) c.414T>C (n.414T>C) c.3435T>C (p.Tyr1145=) c.3300T>C (p.Tyr1100=) c.2289T>C (p.Tyr763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753458A>T | CA386292472 | GNPTAB | c.3516T>A (p.Tyr1172Ter) c.414T>A (n.414T>A) c.3435T>A (p.Tyr1145Ter) c.3300T>A (p.Tyr1100Ter) c.2289T>A (p.Tyr763Ter) | |
12 | g.101753459T>A | CA6746132 | GNPTAB | c.3515A>T (p.Tyr1172Phe) c.413A>T (n.413A>T) c.3434A>T (p.Tyr1145Phe) c.3299A>T (p.Tyr1100Phe) c.2288A>T (p.Tyr763Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753459T>C | CA6746131 | GNPTAB | c.3515A>G (p.Tyr1172Cys) c.413A>G (n.413A>G) c.3434A>G (p.Tyr1145Cys) c.3299A>G (p.Tyr1100Cys) c.2288A>G (p.Tyr763Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753459T>G | CA386292479 | GNPTAB | c.3515A>C (p.Tyr1172Ser) c.413A>C (n.413A>C) c.3434A>C (p.Tyr1145Ser) c.3299A>C (p.Tyr1100Ser) c.2288A>C (p.Tyr763Ser) | |
12 | g.101753459T= | CA2058950572 | GNPTAB | c.3515A= (p.Tyr1172=) c.413A= (n.413A=) c.3434A= (p.Tyr1145=) c.3299A= (p.Tyr1100=) c.2288A= (p.Tyr763=) | |
12 | g.101753460A= | CA2058950573 | GNPTAB | c.3514T= (p.Tyr1172=) c.412T= (n.412T=) c.3433T= (p.Tyr1145=) c.3298T= (p.Tyr1100=) c.2287T= (p.Tyr763=) | |
12 | g.101753460A>C | CA386292480 | GNPTAB | c.3514T>G (p.Tyr1172Asp) c.412T>G (n.412T>G) c.3433T>G (p.Tyr1145Asp) c.3298T>G (p.Tyr1100Asp) c.2287T>G (p.Tyr763Asp) | |
12 | g.101753460A>G | CA386292482 | GNPTAB | c.3514T>C (p.Tyr1172His) c.412T>C (n.412T>C) c.3433T>C (p.Tyr1145His) c.3298T>C (p.Tyr1100His) c.2287T>C (p.Tyr763His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753460A>T | CA386292483 | GNPTAB | c.3514T>A (p.Tyr1172Asn) c.412T>A (n.412T>A) c.3433T>A (p.Tyr1145Asn) c.3298T>A (p.Tyr1100Asn) c.2287T>A (p.Tyr763Asn) | |
12 | g.101753461G>A | CA481317645 | GNPTAB | c.3513C>T (p.Phe1171=) c.411C>T (n.411C>T) c.3432C>T (p.Phe1144=) c.3297C>T (p.Phe1099=) c.2286C>T (p.Phe762=) | |
12 | g.101753461G>C | CA386292485 | GNPTAB | c.3513C>G (p.Phe1171Leu) c.411C>G (n.411C>G) c.3432C>G (p.Phe1144Leu) c.3297C>G (p.Phe1099Leu) c.2286C>G (p.Phe762Leu) | |
12 | g.101753461G>T | CA386292484 | GNPTAB | c.3513C>A (p.Phe1171Leu) c.411C>A (n.411C>A) c.3432C>A (p.Phe1144Leu) c.3297C>A (p.Phe1099Leu) c.2286C>A (p.Phe762Leu) | |
12 | g.101753462A= | CA2058950574 | GNPTAB | c.3512T= (p.Phe1171=) c.410T= (n.410T=) c.3431T= (p.Phe1144=) c.3296T= (p.Phe1099=) c.2285T= (p.Phe762=) | |
12 | g.101753462A>C | CA386292488 | GNPTAB | c.3512T>G (p.Phe1171Cys) c.410T>G (n.410T>G) c.3431T>G (p.Phe1144Cys) c.3296T>G (p.Phe1099Cys) c.2285T>G (p.Phe762Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753462A>G | CA386292490 | GNPTAB | c.3512T>C (p.Phe1171Ser) c.410T>C (n.410T>C) c.3431T>C (p.Phe1144Ser) c.3296T>C (p.Phe1099Ser) c.2285T>C (p.Phe762Ser) | |
12 | g.101753462A>T | CA386292492 | GNPTAB | c.3512T>A (p.Phe1171Tyr) c.410T>A (n.410T>A) c.3431T>A (p.Phe1144Tyr) c.3296T>A (p.Phe1099Tyr) c.2285T>A (p.Phe762Tyr) | |
12 | g.101753463A= | CA2058950575 | GNPTAB | c.3511T= (p.Phe1171=) c.409T= (n.409T=) c.3430T= (p.Phe1144=) c.3295T= (p.Phe1099=) c.2284T= (p.Phe762=) | |
12 | g.101753463A>C | CA242447786 | GNPTAB | c.3511T>G (p.Phe1171Val) c.409T>G (n.409T>G) c.3430T>G (p.Phe1144Val) c.3295T>G (p.Phe1099Val) c.2284T>G (p.Phe762Val) | dbSNP gnomAD v4 |
12 | g.101753463A>G | CA6746133 | GNPTAB | c.3511T>C (p.Phe1171Leu) c.409T>C (n.409T>C) c.3430T>C (p.Phe1144Leu) c.3295T>C (p.Phe1099Leu) c.2284T>C (p.Phe762Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753463A>T | CA386292496 | GNPTAB | c.3511T>A (p.Phe1171Ile) c.409T>A (n.409T>A) c.3430T>A (p.Phe1144Ile) c.3295T>A (p.Phe1099Ile) c.2284T>A (p.Phe762Ile) | |
12 | g.101753464G>A | CA6746134 | GNPTAB | c.3510C>T (p.Asp1170=) c.408C>T (n.408C>T) c.3429C>T (p.Asp1143=) c.3294C>T (p.Asp1098=) c.2283C>T (p.Asp761=) | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.101753464G>C | CA386292502 | GNPTAB | c.3510C>G (p.Asp1170Glu) c.408C>G (n.408C>G) c.3429C>G (p.Asp1143Glu) c.3294C>G (p.Asp1098Glu) c.2283C>G (p.Asp761Glu) | |
12 | g.101753464G= | CA2058950576 | GNPTAB | c.3510C= (p.Asp1170=) c.408C= (n.408C=) c.3429C= (p.Asp1143=) c.3294C= (p.Asp1098=) c.2283C= (p.Asp761=) | |
12 | g.101753464G>T | CA386292499 | GNPTAB | c.3510C>A (p.Asp1170Glu) c.408C>A (n.408C>A) c.3429C>A (p.Asp1143Glu) c.3294C>A (p.Asp1098Glu) c.2283C>A (p.Asp761Glu) | |
12 | g.101753465T>A | CA386292504 | GNPTAB | c.3509A>T (p.Asp1170Val) c.407A>T (n.407A>T) c.3428A>T (p.Asp1143Val) c.3293A>T (p.Asp1098Val) c.2282A>T (p.Asp761Val) | |
12 | g.101753465T>C | CA386292506 | GNPTAB | c.3509A>G (p.Asp1170Gly) c.407A>G (n.407A>G) c.3428A>G (p.Asp1143Gly) c.3293A>G (p.Asp1098Gly) c.2282A>G (p.Asp761Gly) | |
12 | g.101753465T>G | CA386292508 | GNPTAB | c.3509A>C (p.Asp1170Ala) c.407A>C (n.407A>C) c.3428A>C (p.Asp1143Ala) c.3293A>C (p.Asp1098Ala) c.2282A>C (p.Asp761Ala) | |
12 | g.101753466C>A | CA386292511 | GNPTAB | c.3508G>T (p.Asp1170Tyr) c.406G>T (n.406G>T) c.3427G>T (p.Asp1143Tyr) c.3292G>T (p.Asp1098Tyr) c.2281G>T (p.Asp761Tyr) | |
12 | g.101753466C>G | CA386292512 | GNPTAB | c.3508G>C (p.Asp1170His) c.406G>C (n.406G>C) c.3427G>C (p.Asp1143His) c.3292G>C (p.Asp1098His) c.2281G>C (p.Asp761His) | |
12 | g.101753466C>T | CA386292515 | GNPTAB | c.3508G>A (p.Asp1170Asn) c.406G>A (n.406G>A) c.3427G>A (p.Asp1143Asn) c.3292G>A (p.Asp1098Asn) c.2281G>A (p.Asp761Asn) | |
12 | g.101753467C>A | CA386292517 | GNPTAB | c.3507G>T (p.Arg1169Ser) c.405G>T (n.405G>T) c.3426G>T (p.Arg1142Ser) c.3291G>T (p.Arg1097Ser) c.2280G>T (p.Arg760Ser) | |
12 | g.101753467C= | CA2058950577 | GNPTAB | c.3507G= (p.Arg1169=) c.405G= (n.405G=) c.3426G= (p.Arg1142=) c.3291G= (p.Arg1097=) c.2280G= (p.Arg760=) | |
12 | g.101753467C>G | CA386292520 | GNPTAB | c.3507G>C (p.Arg1169Ser) c.405G>C (n.405G>C) c.3426G>C (p.Arg1142Ser) c.3291G>C (p.Arg1097Ser) c.2280G>C (p.Arg760Ser) | |
12 | g.101753467C>T | CA481317656 | GNPTAB | c.3507G>A (p.Arg1169=) c.405G>A (n.405G>A) c.3426G>A (p.Arg1142=) c.3291G>A (p.Arg1097=) c.2280G>A (p.Arg760=) | ClinVar dbSNP gnomAD v4 |
12 | g.101753468C>A | CA386292522 | GNPTAB | c.3506G>T (p.Arg1169Met) c.404G>T (n.404G>T) c.3425G>T (p.Arg1142Met) c.3290G>T (p.Arg1097Met) c.2279G>T (p.Arg760Met) | COSMIC |
12 | g.101753468C>G | CA386292524 | GNPTAB | c.3506G>C (p.Arg1169Thr) c.404G>C (n.404G>C) c.3425G>C (p.Arg1142Thr) c.3290G>C (p.Arg1097Thr) c.2279G>C (p.Arg760Thr) | |
12 | g.101753468C>T | CA386292526 | GNPTAB | c.3506G>A (p.Arg1169Lys) c.404G>A (n.404G>A) c.3425G>A (p.Arg1142Lys) c.3290G>A (p.Arg1097Lys) c.2279G>A (p.Arg760Lys) | |
12 | g.101753469T>A | CA386292528 | GNPTAB | c.3505A>T (p.Arg1169Trp) c.403A>T (n.403A>T) c.3424A>T (p.Arg1142Trp) c.3289A>T (p.Arg1097Trp) c.2278A>T (p.Arg760Trp) | |
12 | g.101753469T>C | CA386292530 | GNPTAB | c.3505A>G (p.Arg1169Gly) c.403A>G (n.403A>G) c.3424A>G (p.Arg1142Gly) c.3289A>G (p.Arg1097Gly) c.2278A>G (p.Arg760Gly) | gnomAD v4 |
12 | g.101753469T>G | CA481317659 | GNPTAB | c.3505A>C (p.Arg1169=) c.403A>C (n.403A>C) c.3424A>C (p.Arg1142=) c.3289A>C (p.Arg1097=) c.2278A>C (p.Arg760=) | gnomAD v4 |
12 | g.101753469_101753471delinsTGA | CA2058950578 | GNPTAB | c.3503_3505delinsTCA (p.Leu1168=) c.401_403delinsTCA (n.401_403delinsTCA) c.3422_3424delinsTCA (p.Leu1141=) c.3287_3289delinsTCA (p.Leu1096=) c.2276_2278delinsTCA (p.Leu759=) | |
12 | g.101753470G>A | CA481317662 | GNPTAB | c.3504C>T (p.Leu1168=) c.402C>T (n.402C>T) c.3423C>T (p.Leu1141=) c.3288C>T (p.Leu1096=) c.2277C>T (p.Leu759=) | |
12 | g.101753470G>C | CA481317661 | GNPTAB | c.3504C>G (p.Leu1168=) c.402C>G (n.402C>G) c.3423C>G (p.Leu1141=) c.3288C>G (p.Leu1096=) c.2277C>G (p.Leu759=) | |
12 | g.101753470G>T | CA481317660 | GNPTAB | c.3504C>A (p.Leu1168=) c.402C>A (n.402C>A) c.3423C>A (p.Leu1141=) c.3288C>A (p.Leu1096=) c.2277C>A (p.Leu759=) | |
12 | g.101753472_101753473del | CA223755 | GNPTAB | c.3503_3504del (p.Leu1168GlnfsTer5) c.401_402del (n.401_402del) c.3422_3423del (p.Leu1141GlnfsTer5) c.3287_3288del (p.Leu1096GlnfsTer5) c.2276_2277del (p.Leu759GlnfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753471A>C | CA386292537 | GNPTAB | c.3503T>G (p.Leu1168Arg) c.401T>G (n.401T>G) c.3422T>G (p.Leu1141Arg) c.3287T>G (p.Leu1096Arg) c.2276T>G (p.Leu759Arg) | gnomAD v4 |
12 | g.101753471A>G | CA386292539 | GNPTAB | c.3503T>C (p.Leu1168Pro) c.401T>C (n.401T>C) c.3422T>C (p.Leu1141Pro) c.3287T>C (p.Leu1096Pro) c.2276T>C (p.Leu759Pro) | |
12 | g.101753471A>T | CA386292541 | GNPTAB | c.3503T>A (p.Leu1168His) c.401T>A (n.401T>A) c.3422T>A (p.Leu1141His) c.3287T>A (p.Leu1096His) c.2276T>A (p.Leu759His) | |
12 | g.101753472G>A | CA386292543 | GNPTAB | c.3502C>T (p.Leu1168Phe) c.400C>T (n.400C>T) c.3421C>T (p.Leu1141Phe) c.3286C>T (p.Leu1096Phe) c.2275C>T (p.Leu759Phe) | gnomAD v4 |
12 | g.101753472G>C | CA386292546 | GNPTAB | c.3502C>G (p.Leu1168Val) c.400C>G (n.400C>G) c.3421C>G (p.Leu1141Val) c.3286C>G (p.Leu1096Val) c.2275C>G (p.Leu759Val) | |
12 | g.101753472G>T | CA386292548 | GNPTAB | c.3502C>A (p.Leu1168Ile) c.400C>A (n.400C>A) c.3421C>A (p.Leu1141Ile) c.3286C>A (p.Leu1096Ile) c.2275C>A (p.Leu759Ile) | |
12 | g.101753473A>C | CA481317669 | GNPTAB | c.3501T>G (p.Val1167=) c.399T>G (n.399T>G) c.3420T>G (p.Val1140=) c.3285T>G (p.Val1095=) c.2274T>G (p.Val758=) | gnomAD v4 |
12 | g.101753473A>G | CA481317667 | GNPTAB | c.3501T>C (p.Val1167=) c.399T>C (n.399T>C) c.3420T>C (p.Val1140=) c.3285T>C (p.Val1095=) c.2274T>C (p.Val758=) | ClinVar dbSNP |
12 | g.101753473A>T | CA481317668 | GNPTAB | c.3501T>A (p.Val1167=) c.399T>A (n.399T>A) c.3420T>A (p.Val1140=) c.3285T>A (p.Val1095=) c.2274T>A (p.Val758=) | |
12 | g.101753474A>C | CA386292550 | GNPTAB | c.3500T>G (p.Val1167Gly) c.398T>G (n.398T>G) c.3419T>G (p.Val1140Gly) c.3284T>G (p.Val1095Gly) c.2273T>G (p.Val758Gly) | |
12 | g.101753474A>G | CA386292553 | GNPTAB | c.3500T>C (p.Val1167Ala) c.398T>C (n.398T>C) c.3419T>C (p.Val1140Ala) c.3284T>C (p.Val1095Ala) c.2273T>C (p.Val758Ala) | |
12 | g.101753474A>T | CA386292555 | GNPTAB | c.3500T>A (p.Val1167Asp) c.398T>A (n.398T>A) c.3419T>A (p.Val1140Asp) c.3284T>A (p.Val1095Asp) c.2273T>A (p.Val758Asp) | |
12 | g.101753475C>A | CA386292558 | GNPTAB | c.3499G>T (p.Val1167Phe) c.397G>T (n.397G>T) c.3418G>T (p.Val1140Phe) c.3283G>T (p.Val1095Phe) c.2272G>T (p.Val758Phe) | |
12 | g.101753475C= | CA2058950579 | GNPTAB | c.3499G= (p.Val1167=) c.397G= (n.397G=) c.3418G= (p.Val1140=) c.3283G= (p.Val1095=) c.2272G= (p.Val758=) | |
12 | g.101753475C>G | CA386292560 | GNPTAB | c.3499G>C (p.Val1167Leu) c.397G>C (n.397G>C) c.3418G>C (p.Val1140Leu) c.3283G>C (p.Val1095Leu) c.2272G>C (p.Val758Leu) | |
12 | g.101753475C>T | CA386292562 | GNPTAB | c.3499G>A (p.Val1167Ile) c.397G>A (n.397G>A) c.3418G>A (p.Val1140Ile) c.3283G>A (p.Val1095Ile) c.2272G>A (p.Val758Ile) | gnomAD v4 |
12 | g.101753476A>C | CA481317672 | GNPTAB | c.3498T>G (p.Ala1166=) c.396T>G (n.396T>G) c.3417T>G (p.Ala1139=) c.3282T>G (p.Ala1094=) c.2271T>G (p.Ala757=) | |
12 | g.101753476A>G | CA481317673 | GNPTAB | c.3498T>C (p.Ala1166=) c.396T>C (n.396T>C) c.3417T>C (p.Ala1139=) c.3282T>C (p.Ala1094=) c.2271T>C (p.Ala757=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.101753476A>T | CA481317674 | GNPTAB | c.3498T>A (p.Ala1166=) c.396T>A (n.396T>A) c.3417T>A (p.Ala1139=) c.3282T>A (p.Ala1094=) c.2271T>A (p.Ala757=) | |
12 | g.101753476_101753477insTCTTTATGA | CA915946675 | GNPTAB | c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) c.396_397insCATAAAGAT (n.396_397insCATAAAGAT) c.3417_3418insCATAAAGAT (p.Ala1139_Val1140insHisLysAsp) c.3282_3283insCATAAAGAT (p.Ala1094_Val1095insHisLysAsp) c.2271_2272insCATAAAGAT (p.Ala757_Val758insHisLysAsp) | ClinVar dbSNP |
12 | g.101753477G>A | CA386292569 | GNPTAB | c.3497C>T (p.Ala1166Val) c.395C>T (n.395C>T) c.3416C>T (p.Ala1139Val) c.3281C>T (p.Ala1094Val) c.2270C>T (p.Ala757Val) | |
12 | g.101753477G>C | CA386292568 | GNPTAB | c.3497C>G (p.Ala1166Gly) c.395C>G (n.395C>G) c.3416C>G (p.Ala1139Gly) c.3281C>G (p.Ala1094Gly) c.2270C>G (p.Ala757Gly) | |
12 | g.101753477G>T | CA386292565 | GNPTAB | c.3497C>A (p.Ala1166Asp) c.395C>A (n.395C>A) c.3416C>A (p.Ala1139Asp) c.3281C>A (p.Ala1094Asp) c.2270C>A (p.Ala757Asp) | |
12 | g.101753478C>A | CA386292572 | GNPTAB | c.3496G>T (p.Ala1166Ser) c.394G>T (n.394G>T) c.3415G>T (p.Ala1139Ser) c.3280G>T (p.Ala1094Ser) c.2269G>T (p.Ala757Ser) | |
12 | g.101753478C= | CA2058950580 | GNPTAB | c.3496G= (p.Ala1166=) c.394G= (n.394G=) c.3415G= (p.Ala1139=) c.3280G= (p.Ala1094=) c.2269G= (p.Ala757=) | |
12 | g.101753478C>G | CA6746135 | GNPTAB | c.3496G>C (p.Ala1166Pro) c.394G>C (n.394G>C) c.3415G>C (p.Ala1139Pro) c.3280G>C (p.Ala1094Pro) c.2269G>C (p.Ala757Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753478C>T | CA386292574 | GNPTAB | c.3496G>A (p.Ala1166Thr) c.394G>A (n.394G>A) c.3415G>A (p.Ala1139Thr) c.3280G>A (p.Ala1094Thr) c.2269G>A (p.Ala757Thr) | |
12 | g.101753479C>A | CA386292577 | GNPTAB | c.3495G>T (p.Lys1165Asn) c.393G>T (n.393G>T) c.3414G>T (p.Lys1138Asn) c.3279G>T (p.Lys1093Asn) c.2268G>T (p.Lys756Asn) | |
12 | g.101753479C>G | CA386292579 | GNPTAB | c.3495G>C (p.Lys1165Asn) c.393G>C (n.393G>C) c.3414G>C (p.Lys1138Asn) c.3279G>C (p.Lys1093Asn) c.2268G>C (p.Lys756Asn) | |
12 | g.101753479C>T | CA481317677 | GNPTAB | c.3495G>A (p.Lys1165=) c.393G>A (n.393G>A) c.3414G>A (p.Lys1138=) c.3279G>A (p.Lys1093=) c.2268G>A (p.Lys756=) | gnomAD v4 |
12 | g.101753480T>A | CA386292581 | GNPTAB | c.3494A>T (p.Lys1165Met) c.392A>T (n.392A>T) c.3413A>T (p.Lys1138Met) c.3278A>T (p.Lys1093Met) c.2267A>T (p.Lys756Met) | |
12 | g.101753480T>C | CA386292584 | GNPTAB | c.3494A>G (p.Lys1165Arg) c.392A>G (n.392A>G) c.3413A>G (p.Lys1138Arg) c.3278A>G (p.Lys1093Arg) c.2267A>G (p.Lys756Arg) | gnomAD v4 |
12 | g.101753480T>G | CA386292585 | GNPTAB | c.3494A>C (p.Lys1165Thr) c.392A>C (n.392A>C) c.3413A>C (p.Lys1138Thr) c.3278A>C (p.Lys1093Thr) c.2267A>C (p.Lys756Thr) | |
12 | g.101753481T>A | CA386292588 | GNPTAB | c.3493A>T (p.Lys1165Ter) c.391A>T (n.391A>T) c.3412A>T (p.Lys1138Ter) c.3277A>T (p.Lys1093Ter) c.2266A>T (p.Lys756Ter) | |
12 | g.101753481T>C | CA386292589 | GNPTAB | c.3493A>G (p.Lys1165Glu) c.391A>G (n.391A>G) c.3412A>G (p.Lys1138Glu) c.3277A>G (p.Lys1093Glu) c.2266A>G (p.Lys756Glu) | |
12 | g.101753481T>G | CA386292590 | GNPTAB | c.3493A>C (p.Lys1165Gln) c.391A>C (n.391A>C) c.3412A>C (p.Lys1138Gln) c.3277A>C (p.Lys1093Gln) c.2266A>C (p.Lys756Gln) | |
12 | g.101753482C>A | CA481317683 | GNPTAB | c.3492G>T (p.Val1164=) c.390G>T (n.390G>T) c.3411G>T (p.Val1137=) c.3276G>T (p.Val1092=) c.2265G>T (p.Val755=) | |
12 | g.101753482C>G | CA481317684 | GNPTAB | c.3492G>C (p.Val1164=) c.390G>C (n.390G>C) c.3411G>C (p.Val1137=) c.3276G>C (p.Val1092=) c.2265G>C (p.Val755=) | |
12 | g.101753482C>T | CA481317685 | GNPTAB | c.3492G>A (p.Val1164=) c.390G>A (n.390G>A) c.3411G>A (p.Val1137=) c.3276G>A (p.Val1092=) c.2265G>A (p.Val755=) | |
12 | g.101753483A= | CA2058950581 | GNPTAB | c.3491T= (p.Val1164=) c.389T= (n.389T=) c.3410T= (p.Val1137=) c.3275T= (p.Val1092=) c.2264T= (p.Val755=) | |
12 | g.101753483A>C | CA386292592 | GNPTAB | c.3491T>G (p.Val1164Gly) c.389T>G (n.389T>G) c.3410T>G (p.Val1137Gly) c.3275T>G (p.Val1092Gly) c.2264T>G (p.Val755Gly) | |
12 | g.101753483A>G | CA386292594 | GNPTAB | c.3491T>C (p.Val1164Ala) c.389T>C (n.389T>C) c.3410T>C (p.Val1137Ala) c.3275T>C (p.Val1092Ala) c.2264T>C (p.Val755Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753483A>T | CA386292596 | GNPTAB | c.3491T>A (p.Val1164Glu) c.389T>A (n.389T>A) c.3410T>A (p.Val1137Glu) c.3275T>A (p.Val1092Glu) c.2264T>A (p.Val755Glu) | |
12 | g.101753483_101753487delinsACTGT | CA2058950582 | GNPTAB | c.3487_3491delinsACAGT (p.Thr1163=) c.385_389delinsACAGT (n.385_389delinsACAGT) c.3406_3410delinsACAGT (p.Thr1136=) c.3271_3275delinsACAGT (p.Thr1091=) c.2260_2264delinsACAGT (p.Thr754=) | |
12 | g.101753484C>A | CA386292601 | GNPTAB | c.3490G>T (p.Val1164Leu) c.388G>T (n.388G>T) c.3409G>T (p.Val1137Leu) c.3274G>T (p.Val1092Leu) c.2263G>T (p.Val755Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753484C= | CA2058950583 | GNPTAB | c.3490G= (p.Val1164=) c.388G= (n.388G=) c.3409G= (p.Val1137=) c.3274G= (p.Val1092=) c.2263G= (p.Val755=) | |
12 | g.101753484C>G | CA386292603 | GNPTAB | c.3490G>C (p.Val1164Leu) c.388G>C (n.388G>C) c.3409G>C (p.Val1137Leu) c.3274G>C (p.Val1092Leu) c.2263G>C (p.Val755Leu) | |
12 | g.101753484C>T | CA386292605 | GNPTAB | c.3490G>A (p.Val1164Met) c.388G>A (n.388G>A) c.3409G>A (p.Val1137Met) c.3274G>A (p.Val1092Met) c.2263G>A (p.Val755Met) | |
12 | g.101753487_101753490del | CA343403 | GNPTAB | c.3487_3490del (p.Thr1163Ter) c.385_388del (n.385_388del) c.3406_3409del (p.Thr1136Ter) c.3271_3274del (p.Thr1091Ter) c.2260_2263del (p.Thr754Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753485T>A | CA481317695 | GNPTAB | c.3489A>T (p.Thr1163=) c.387A>T (n.387A>T) c.3408A>T (p.Thr1136=) c.3273A>T (p.Thr1091=) c.2262A>T (p.Thr754=) | gnomAD v4 |
12 | g.101753485T>C | CA481317697 | GNPTAB | c.3489A>G (p.Thr1163=) c.387A>G (n.387A>G) c.3408A>G (p.Thr1136=) c.3273A>G (p.Thr1091=) c.2262A>G (p.Thr754=) | ClinVar gnomAD v4 |
12 | g.101753485T>G | CA6746136 | GNPTAB | c.3489A>C (p.Thr1163=) c.387A>C (n.387A>C) c.3408A>C (p.Thr1136=) c.3273A>C (p.Thr1091=) c.2262A>C (p.Thr754=) | dbSNP ExAC gnomAD v2 |
12 | g.101753485T= | CA2058950584 | GNPTAB | c.3489A= (p.Thr1163=) c.387A= (n.387A=) c.3408A= (p.Thr1136=) c.3273A= (p.Thr1091=) c.2262A= (p.Thr754=) | |
12 | g.101753485_101753486delinsTG | CA2058950585 | GNPTAB | c.3488_3489delinsCA (p.Thr1163=) c.386_387delinsCA (n.386_387delinsCA) c.3407_3408delinsCA (p.Thr1136=) c.3272_3273delinsCA (p.Thr1091=) c.2261_2262delinsCA (p.Thr754=) | |
12 | g.101753486del | CA913191212 | GNPTAB | c.3488del (p.Thr1163LysfsTer2) c.386del (n.386del) c.3407del (p.Thr1136LysfsTer2) c.3272del (p.Thr1091LysfsTer2) c.2261del (p.Thr754LysfsTer2) | ClinVar dbSNP |
12 | g.101753486G>A | CA386292610 | GNPTAB | c.3488C>T (p.Thr1163Ile) c.386C>T (n.386C>T) c.3407C>T (p.Thr1136Ile) c.3272C>T (p.Thr1091Ile) c.2261C>T (p.Thr754Ile) | |
12 | g.101753486G>C | CA386292612 | GNPTAB | c.3488C>G (p.Thr1163Arg) c.386C>G (n.386C>G) c.3407C>G (p.Thr1136Arg) c.3272C>G (p.Thr1091Arg) c.2261C>G (p.Thr754Arg) | |
12 | g.101753486G= | CA2058950586 | GNPTAB | c.3488C= (p.Thr1163=) c.386C= (n.386C=) c.3407C= (p.Thr1136=) c.3272C= (p.Thr1091=) c.2261C= (p.Thr754=) | |
12 | g.101753486G>T | CA386292614 | GNPTAB | c.3488C>A (p.Thr1163Lys) c.386C>A (n.386C>A) c.3407C>A (p.Thr1136Lys) c.3272C>A (p.Thr1091Lys) c.2261C>A (p.Thr754Lys) | dbSNP gnomAD v4 |
12 | g.101753487T>A | CA386292617 | GNPTAB | c.3487A>T (p.Thr1163Ser) c.385A>T (n.385A>T) c.3406A>T (p.Thr1136Ser) c.3271A>T (p.Thr1091Ser) c.2260A>T (p.Thr754Ser) | |
12 | g.101753487T>C | CA386292620 | GNPTAB | c.3487A>G (p.Thr1163Ala) c.385A>G (n.385A>G) c.3406A>G (p.Thr1136Ala) c.3271A>G (p.Thr1091Ala) c.2260A>G (p.Thr754Ala) | |
12 | g.101753487T>G | CA386292622 | GNPTAB | c.3487A>C (p.Thr1163Pro) c.385A>C (n.385A>C) c.3406A>C (p.Thr1136Pro) c.3271A>C (p.Thr1091Pro) c.2260A>C (p.Thr754Pro) | |
12 | g.101753488_101753489dup | CA2695217190 | GNPTAB | c.3486_3487dup (p.Thr1163ArgfsTer3) c.384_385dup (n.384_385dup) c.3405_3406dup (p.Thr1136ArgfsTer3) c.3270_3271dup (p.Thr1091ArgfsTer3) c.2259_2260dup (p.Thr754ArgfsTer3) | |
12 | g.101753488C>A | CA386292625 | GNPTAB | c.3486G>T (p.Gln1162His) c.384G>T (n.384G>T) c.3405G>T (p.Gln1135His) c.3270G>T (p.Gln1090His) c.2259G>T (p.Gln753His) | gnomAD v4 |
12 | g.101753488C>G | CA386292627 | GNPTAB | c.3486G>C (p.Gln1162His) c.384G>C (n.384G>C) c.3405G>C (p.Gln1135His) c.3270G>C (p.Gln1090His) c.2259G>C (p.Gln753His) | |
12 | g.101753488C>T | CA481317700 | GNPTAB | c.3486G>A (p.Gln1162=) c.384G>A (n.384G>A) c.3405G>A (p.Gln1135=) c.3270G>A (p.Gln1090=) c.2259G>A (p.Gln753=) | ClinVar |
12 | g.101753489T>A | CA386292635 | GNPTAB | c.3485A>T (p.Gln1162Leu) c.383A>T (n.383A>T) c.3404A>T (p.Gln1135Leu) c.3269A>T (p.Gln1090Leu) c.2258A>T (p.Gln753Leu) | |
12 | g.101753489T>C | CA386292638 | GNPTAB | c.3485A>G (p.Gln1162Arg) c.383A>G (n.383A>G) c.3404A>G (p.Gln1135Arg) c.3269A>G (p.Gln1090Arg) c.2258A>G (p.Gln753Arg) | |
12 | g.101753489T>G | CA386292641 | GNPTAB | c.3485A>C (p.Gln1162Pro) c.383A>C (n.383A>C) c.3404A>C (p.Gln1135Pro) c.3269A>C (p.Gln1090Pro) c.2258A>C (p.Gln753Pro) | |
12 | g.101753490G>A | CA386292649 | GNPTAB | c.3484C>T (p.Gln1162Ter) c.382C>T (n.382C>T) c.3403C>T (p.Gln1135Ter) c.3268C>T (p.Gln1090Ter) c.2257C>T (p.Gln753Ter) | |
12 | g.101753490G>C | CA386292644 | GNPTAB | c.3484C>G (p.Gln1162Glu) c.382C>G (n.382C>G) c.3403C>G (p.Gln1135Glu) c.3268C>G (p.Gln1090Glu) c.2257C>G (p.Gln753Glu) | |
12 | g.101753490G>T | CA386292647 | GNPTAB | c.3484C>A (p.Gln1162Lys) c.382C>A (n.382C>A) c.3403C>A (p.Gln1135Lys) c.3268C>A (p.Gln1090Lys) c.2257C>A (p.Gln753Lys) | |
12 | g.101753491A>C | CA481317704 | GNPTAB | c.3483T>G (p.Ala1161=) c.381T>G (n.381T>G) c.3402T>G (p.Ala1134=) c.3267T>G (p.Ala1089=) c.2256T>G (p.Ala752=) | |
12 | g.101753491A>G | CA481317706 | GNPTAB | c.3483T>C (p.Ala1161=) c.381T>C (n.381T>C) c.3402T>C (p.Ala1134=) c.3267T>C (p.Ala1089=) c.2256T>C (p.Ala752=) | |
12 | g.101753491A>T | CA481317707 | GNPTAB | c.3483T>A (p.Ala1161=) c.381T>A (n.381T>A) c.3402T>A (p.Ala1134=) c.3267T>A (p.Ala1089=) c.2256T>A (p.Ala752=) | |
12 | g.101753492G>A | CA386292651 | GNPTAB | c.3482C>T (p.Ala1161Val) c.380C>T (n.380C>T) c.3401C>T (p.Ala1134Val) c.3266C>T (p.Ala1089Val) c.2255C>T (p.Ala752Val) | |
12 | g.101753492G>C | CA386292655 | GNPTAB | c.3482C>G (p.Ala1161Gly) c.380C>G (n.380C>G) c.3401C>G (p.Ala1134Gly) c.3266C>G (p.Ala1089Gly) c.2255C>G (p.Ala752Gly) | dbSNP |
12 | g.101753492G= | CA2058950587 | GNPTAB | c.3482C= (p.Ala1161=) c.380C= (n.380C=) c.3401C= (p.Ala1134=) c.3266C= (p.Ala1089=) c.2255C= (p.Ala752=) | |
12 | g.101753492G>T | CA386292658 | GNPTAB | c.3482C>A (p.Ala1161Asp) c.380C>A (n.380C>A) c.3401C>A (p.Ala1134Asp) c.3266C>A (p.Ala1089Asp) c.2255C>A (p.Ala752Asp) | |
12 | g.101753493C>A | CA6746137 | GNPTAB | c.3481G>T (p.Ala1161Ser) c.379G>T (n.379G>T) c.3400G>T (p.Ala1134Ser) c.3265G>T (p.Ala1089Ser) c.2254G>T (p.Ala752Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753493C= | CA2058950588 | GNPTAB | c.3481G= (p.Ala1161=) c.379G= (n.379G=) c.3400G= (p.Ala1134=) c.3265G= (p.Ala1089=) c.2254G= (p.Ala752=) | |
12 | g.101753493C>G | CA386292663 | GNPTAB | c.3481G>C (p.Ala1161Pro) c.379G>C (n.379G>C) c.3400G>C (p.Ala1134Pro) c.3265G>C (p.Ala1089Pro) c.2254G>C (p.Ala752Pro) | |
12 | g.101753493C>T | CA386292665 | GNPTAB | c.3481G>A (p.Ala1161Thr) c.379G>A (n.379G>A) c.3400G>A (p.Ala1134Thr) c.3265G>A (p.Ala1089Thr) c.2254G>A (p.Ala752Thr) | |
12 | g.101753494A= | CA2058950589 | GNPTAB | c.3480T= (p.Asp1160=) c.378T= (n.378T=) c.3399T= (p.Asp1133=) c.3264T= (p.Asp1088=) c.2253T= (p.Asp751=) | |
12 | g.101753494A>C | CA386292670 | GNPTAB | c.3480T>G (p.Asp1160Glu) c.378T>G (n.378T>G) c.3399T>G (p.Asp1133Glu) c.3264T>G (p.Asp1088Glu) c.2253T>G (p.Asp751Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753494A>G | CA481317712 | GNPTAB | c.3480T>C (p.Asp1160=) c.378T>C (n.378T>C) c.3399T>C (p.Asp1133=) c.3264T>C (p.Asp1088=) c.2253T>C (p.Asp751=) | |
12 | g.101753494A>T | CA386292671 | GNPTAB | c.3480T>A (p.Asp1160Glu) c.378T>A (n.378T>A) c.3399T>A (p.Asp1133Glu) c.3264T>A (p.Asp1088Glu) c.2253T>A (p.Asp751Glu) | |
12 | g.101753495T>A | CA386292676 | GNPTAB | c.3479A>T (p.Asp1160Val) c.377A>T (n.377A>T) c.3398A>T (p.Asp1133Val) c.3263A>T (p.Asp1088Val) c.2252A>T (p.Asp751Val) | |
12 | g.101753495T>C | CA386292679 | GNPTAB | c.3479A>G (p.Asp1160Gly) c.377A>G (n.377A>G) c.3398A>G (p.Asp1133Gly) c.3263A>G (p.Asp1088Gly) c.2252A>G (p.Asp751Gly) | |
12 | g.101753495T>G | CA386292682 | GNPTAB | c.3479A>C (p.Asp1160Ala) c.377A>C (n.377A>C) c.3398A>C (p.Asp1133Ala) c.3263A>C (p.Asp1088Ala) c.2252A>C (p.Asp751Ala) | |
12 | g.101753496C>A | CA386292683 | GNPTAB | c.3478G>T (p.Asp1160Tyr) c.376G>T (n.376G>T) c.3397G>T (p.Asp1133Tyr) c.3262G>T (p.Asp1088Tyr) c.2251G>T (p.Asp751Tyr) | |
12 | g.101753496C>G | CA386292687 | GNPTAB | c.3478G>C (p.Asp1160His) c.376G>C (n.376G>C) c.3397G>C (p.Asp1133His) c.3262G>C (p.Asp1088His) c.2251G>C (p.Asp751His) | |
12 | g.101753496C>T | CA386292686 | GNPTAB | c.3478G>A (p.Asp1160Asn) c.376G>A (n.376G>A) c.3397G>A (p.Asp1133Asn) c.3262G>A (p.Asp1088Asn) c.2251G>A (p.Asp751Asn) | |
12 | g.101753497T>A | CA386292689 | GNPTAB | c.3477A>T (p.Lys1159Asn) c.375A>T (n.375A>T) c.3396A>T (p.Lys1132Asn) c.3261A>T (p.Lys1087Asn) c.2250A>T (p.Lys750Asn) | |
12 | g.101753497T>C | CA481317713 | GNPTAB | c.3477A>G (p.Lys1159=) c.375A>G (n.375A>G) c.3396A>G (p.Lys1132=) c.3261A>G (p.Lys1087=) c.2250A>G (p.Lys750=) | |
12 | g.101753497T>G | CA386292690 | GNPTAB | c.3477A>C (p.Lys1159Asn) c.375A>C (n.375A>C) c.3396A>C (p.Lys1132Asn) c.3261A>C (p.Lys1087Asn) c.2250A>C (p.Lys750Asn) | |
12 | g.101753498T>A | CA386292692 | GNPTAB | c.3476A>T (p.Lys1159Ile) c.374A>T (n.374A>T) c.3395A>T (p.Lys1132Ile) c.3260A>T (p.Lys1087Ile) c.2249A>T (p.Lys750Ile) | |
12 | g.101753498T>C | CA6746138 | GNPTAB | c.3476A>G (p.Lys1159Arg) c.374A>G (n.374A>G) c.3395A>G (p.Lys1132Arg) c.3260A>G (p.Lys1087Arg) c.2249A>G (p.Lys750Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753498T>G | CA386292695 | GNPTAB | c.3476A>C (p.Lys1159Thr) c.374A>C (n.374A>C) c.3395A>C (p.Lys1132Thr) c.3260A>C (p.Lys1087Thr) c.2249A>C (p.Lys750Thr) | |
12 | g.101753498T= | CA2058950590 | GNPTAB | c.3476A= (p.Lys1159=) c.374A= (n.374A=) c.3395A= (p.Lys1132=) c.3260A= (p.Lys1087=) c.2249A= (p.Lys750=) | |
12 | g.101753498_101753500delinsTTA | CA2058950591 | GNPTAB | c.3474_3476delinsTAA (p.His1158=) c.372_374delinsTAA (n.372_374delinsTAA) c.3393_3395delinsTAA (p.His1131=) c.3258_3260delinsTAA (p.His1086=) c.2247_2249delinsTAA (p.His749=) | |
12 | g.101753499T>A | CA386292696 | GNPTAB | c.3475A>T (p.Lys1159Ter) c.373A>T (n.373A>T) c.3394A>T (p.Lys1132Ter) c.3259A>T (p.Lys1087Ter) c.2248A>T (p.Lys750Ter) | |
12 | g.101753499T>C | CA386292698 | GNPTAB | c.3475A>G (p.Lys1159Glu) c.373A>G (n.373A>G) c.3394A>G (p.Lys1132Glu) c.3259A>G (p.Lys1087Glu) c.2248A>G (p.Lys750Glu) | gnomAD v4 |
12 | g.101753499T>G | CA386292699 | GNPTAB | c.3475A>C (p.Lys1159Gln) c.373A>C (n.373A>C) c.3394A>C (p.Lys1132Gln) c.3259A>C (p.Lys1087Gln) c.2248A>C (p.Lys750Gln) | |
12 | g.101753500_101753501del | CA340013 | GNPTAB | c.3474_3475del (p.His1158GlnfsTer15) c.372_373del (n.372_373del) c.3393_3394del (p.His1131GlnfsTer15) c.3258_3259del (p.His1086GlnfsTer15) c.2247_2248del (p.His749GlnfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753500A>C | CA386292700 | GNPTAB | c.3474T>G (p.His1158Gln) c.372T>G (n.372T>G) c.3393T>G (p.His1131Gln) c.3258T>G (p.His1086Gln) c.2247T>G (p.His749Gln) | |
12 | g.101753500A>G | CA481317716 | GNPTAB | c.3474T>C (p.His1158=) c.372T>C (n.372T>C) c.3393T>C (p.His1131=) c.3258T>C (p.His1086=) c.2247T>C (p.His749=) | |
12 | g.101753500A>T | CA386292701 | GNPTAB | c.3474T>A (p.His1158Gln) c.372T>A (n.372T>A) c.3393T>A (p.His1131Gln) c.3258T>A (p.His1086Gln) c.2247T>A (p.His749Gln) | |
12 | g.101753501T>A | CA386292704 | GNPTAB | c.3473A>T (p.His1158Leu) c.371A>T (n.371A>T) c.3392A>T (p.His1131Leu) c.3257A>T (p.His1086Leu) c.2246A>T (p.His749Leu) | |
12 | g.101753501T>C | CA386292705 | GNPTAB | c.3473A>G (p.His1158Arg) c.371A>G (n.371A>G) c.3392A>G (p.His1131Arg) c.3257A>G (p.His1086Arg) c.2246A>G (p.His749Arg) | |
12 | g.101753501T>G | CA386292706 | GNPTAB | c.3473A>C (p.His1158Pro) c.371A>C (n.371A>C) c.3392A>C (p.His1131Pro) c.3257A>C (p.His1086Pro) c.2246A>C (p.His749Pro) | gnomAD v4 |
12 | g.101753502G>A | CA386292712 | GNPTAB | c.3472C>T (p.His1158Tyr) c.370C>T (n.370C>T) c.3391C>T (p.His1131Tyr) c.3256C>T (p.His1086Tyr) c.2245C>T (p.His749Tyr) | |
12 | g.101753502G>C | CA386292710 | GNPTAB | c.3472C>G (p.His1158Asp) c.370C>G (n.370C>G) c.3391C>G (p.His1131Asp) c.3256C>G (p.His1086Asp) c.2245C>G (p.His749Asp) | |
12 | g.101753502G>T | CA386292709 | GNPTAB | c.3472C>A (p.His1158Asn) c.370C>A (n.370C>A) c.3391C>A (p.His1131Asn) c.3256C>A (p.His1086Asn) c.2245C>A (p.His749Asn) | |
12 | g.101753503A>C | CA386292713 | GNPTAB | c.3471T>G (p.Asn1157Lys) c.369T>G (n.369T>G) c.3390T>G (p.Asn1130Lys) c.3255T>G (p.Asn1085Lys) c.2244T>G (p.Asn748Lys) | |
12 | g.101753503A>G | CA481317718 | GNPTAB | c.3471T>C (p.Asn1157=) c.369T>C (n.369T>C) c.3390T>C (p.Asn1130=) c.3255T>C (p.Asn1085=) c.2244T>C (p.Asn748=) | gnomAD v4 |
12 | g.101753503A>T | CA386292715 | GNPTAB | c.3471T>A (p.Asn1157Lys) c.369T>A (n.369T>A) c.3390T>A (p.Asn1130Lys) c.3255T>A (p.Asn1085Lys) c.2244T>A (p.Asn748Lys) | |
12 | g.101753504T>A | CA242447925 | GNPTAB | c.3470A>T (p.Asn1157Ile) c.368A>T (n.368A>T) c.3389A>T (p.Asn1130Ile) c.3254A>T (p.Asn1085Ile) c.2243A>T (p.Asn748Ile) | dbSNP gnomAD v4 |
12 | g.101753504T>C | CA386292717 | GNPTAB | c.3470A>G (p.Asn1157Ser) c.368A>G (n.368A>G) c.3389A>G (p.Asn1130Ser) c.3254A>G (p.Asn1085Ser) c.2243A>G (p.Asn748Ser) | gnomAD v4 |
12 | g.101753504T>G | CA386292718 | GNPTAB | c.3470A>C (p.Asn1157Thr) c.368A>C (n.368A>C) c.3389A>C (p.Asn1130Thr) c.3254A>C (p.Asn1085Thr) c.2243A>C (p.Asn748Thr) | |
12 | g.101753504T= | CA2058950592 | GNPTAB | c.3470A= (p.Asn1157=) c.368A= (n.368A=) c.3389A= (p.Asn1130=) c.3254A= (p.Asn1085=) c.2243A= (p.Asn748=) | |
12 | g.101753505T>A | CA386292721 | GNPTAB | c.3469A>T (p.Asn1157Tyr) c.367A>T (n.367A>T) c.3388A>T (p.Asn1130Tyr) c.3253A>T (p.Asn1085Tyr) c.2242A>T (p.Asn748Tyr) | |
12 | g.101753505T>C | CA386292722 | GNPTAB | c.3469A>G (p.Asn1157Asp) c.367A>G (n.367A>G) c.3388A>G (p.Asn1130Asp) c.3253A>G (p.Asn1085Asp) c.2242A>G (p.Asn748Asp) | |
12 | g.101753505T>G | CA386292724 | GNPTAB | c.3469A>C (p.Asn1157His) c.367A>C (n.367A>C) c.3388A>C (p.Asn1130His) c.3253A>C (p.Asn1085His) c.2242A>C (p.Asn748His) | |
12 | g.101753506G>A | CA481317726 | GNPTAB | c.3468C>T (p.His1156=) c.366C>T (n.366C>T) c.3387C>T (p.His1129=) c.3252C>T (p.His1084=) c.2241C>T (p.His747=) | |
12 | g.101753506G>C | CA386292725 | GNPTAB | c.3468C>G (p.His1156Gln) c.366C>G (n.366C>G) c.3387C>G (p.His1129Gln) c.3252C>G (p.His1084Gln) c.2241C>G (p.His747Gln) | |
12 | g.101753506G>T | CA386292726 | GNPTAB | c.3468C>A (p.His1156Gln) c.366C>A (n.366C>A) c.3387C>A (p.His1129Gln) c.3252C>A (p.His1084Gln) c.2241C>A (p.His747Gln) | |
12 | g.101753507T>A | CA386292728 | GNPTAB | c.3467A>T (p.His1156Leu) c.365A>T (n.365A>T) c.3386A>T (p.His1129Leu) c.3251A>T (p.His1084Leu) c.2240A>T (p.His747Leu) | |
12 | g.101753507T>C | CA386292730 | GNPTAB | c.3467A>G (p.His1156Arg) c.365A>G (n.365A>G) c.3386A>G (p.His1129Arg) c.3251A>G (p.His1084Arg) c.2240A>G (p.His747Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753507T>G | CA386292731 | GNPTAB | c.3467A>C (p.His1156Pro) c.365A>C (n.365A>C) c.3386A>C (p.His1129Pro) c.3251A>C (p.His1084Pro) c.2240A>C (p.His747Pro) | |
12 | g.101753507T= | CA2058950593 | GNPTAB | c.3467A= (p.His1156=) c.365A= (n.365A=) c.3386A= (p.His1129=) c.3251A= (p.His1084=) c.2240A= (p.His747=) | |
12 | g.101753508G>A | CA386292735 | GNPTAB | c.3466C>T (p.His1156Tyr) c.364C>T (n.364C>T) c.3385C>T (p.His1129Tyr) c.3250C>T (p.His1084Tyr) c.2239C>T (p.His747Tyr) | gnomAD v4 |
12 | g.101753508G>C | CA386292737 | GNPTAB | c.3466C>G (p.His1156Asp) c.364C>G (n.364C>G) c.3385C>G (p.His1129Asp) c.3250C>G (p.His1084Asp) c.2239C>G (p.His747Asp) | gnomAD v4 |
12 | g.101753508G>T | CA386292733 | GNPTAB | c.3466C>A (p.His1156Asn) c.364C>A (n.364C>A) c.3385C>A (p.His1129Asn) c.3250C>A (p.His1084Asn) c.2239C>A (p.His747Asn) | |
12 | g.101753509G>A | CA481317731 | GNPTAB | c.3465C>T (p.Asp1155=) c.363C>T (n.363C>T) c.3384C>T (p.Asp1128=) c.3249C>T (p.Asp1083=) c.2238C>T (p.Asp746=) | gnomAD v4 |
12 | g.101753509G>C | CA386292738 | GNPTAB | c.3465C>G (p.Asp1155Glu) c.363C>G (n.363C>G) c.3384C>G (p.Asp1128Glu) c.3249C>G (p.Asp1083Glu) c.2238C>G (p.Asp746Glu) | |
12 | g.101753509G>T | CA386292740 | GNPTAB | c.3465C>A (p.Asp1155Glu) c.363C>A (n.363C>A) c.3384C>A (p.Asp1128Glu) c.3249C>A (p.Asp1083Glu) c.2238C>A (p.Asp746Glu) | |
12 | g.101753510T>A | CA386292742 | GNPTAB | c.3464A>T (p.Asp1155Val) c.362A>T (n.362A>T) c.3383A>T (p.Asp1128Val) c.3248A>T (p.Asp1083Val) c.2237A>T (p.Asp746Val) | |
12 | g.101753510T>C | CA386292744 | GNPTAB | c.3464A>G (p.Asp1155Gly) c.362A>G (n.362A>G) c.3383A>G (p.Asp1128Gly) c.3248A>G (p.Asp1083Gly) c.2237A>G (p.Asp746Gly) | |
12 | g.101753510T>G | CA386292745 | GNPTAB | c.3464A>C (p.Asp1155Ala) c.362A>C (n.362A>C) c.3383A>C (p.Asp1128Ala) c.3248A>C (p.Asp1083Ala) c.2237A>C (p.Asp746Ala) | |
12 | g.101753511C>A | CA386292747 | GNPTAB | c.3463G>T (p.Asp1155Tyr) c.361G>T (n.361G>T) c.3382G>T (p.Asp1128Tyr) c.3247G>T (p.Asp1083Tyr) c.2236G>T (p.Asp746Tyr) | |
12 | g.101753511C= | CA2058950594 | GNPTAB | c.3463G= (p.Asp1155=) c.361G= (n.361G=) c.3382G= (p.Asp1128=) c.3247G= (p.Asp1083=) c.2236G= (p.Asp746=) | |
12 | g.101753511C>G | CA386292749 | GNPTAB | c.3463G>C (p.Asp1155His) c.361G>C (n.361G>C) c.3382G>C (p.Asp1128His) c.3247G>C (p.Asp1083His) c.2236G>C (p.Asp746His) | dbSNP |
12 | g.101753511C>T | CA386292750 | GNPTAB | c.3463G>A (p.Asp1155Asn) c.361G>A (n.361G>A) c.3382G>A (p.Asp1128Asn) c.3247G>A (p.Asp1083Asn) c.2236G>A (p.Asp746Asn) | |
12 | g.101753512A>C | CA386292752 | GNPTAB | c.3462T>G (p.Ile1154Met) c.360T>G (n.360T>G) c.3381T>G (p.Ile1127Met) c.3246T>G (p.Ile1082Met) c.2235T>G (p.Ile745Met) | |
12 | g.101753512A>G | CA481317732 | GNPTAB | c.3462T>C (p.Ile1154=) c.360T>C (n.360T>C) c.3381T>C (p.Ile1127=) c.3246T>C (p.Ile1082=) c.2235T>C (p.Ile745=) | |
12 | g.101753512A>T | CA481317734 | GNPTAB | c.3462T>A (p.Ile1154=) c.360T>A (n.360T>A) c.3381T>A (p.Ile1127=) c.3246T>A (p.Ile1082=) c.2235T>A (p.Ile745=) | |
12 | g.101753513A>C | CA386292755 | GNPTAB | c.3461T>G (p.Ile1154Ser) c.359T>G (n.359T>G) c.3380T>G (p.Ile1127Ser) c.3245T>G (p.Ile1082Ser) c.2234T>G (p.Ile745Ser) | |
12 | g.101753513A>G | CA386292756 | GNPTAB | c.3461T>C (p.Ile1154Thr) c.359T>C (n.359T>C) c.3380T>C (p.Ile1127Thr) c.3245T>C (p.Ile1082Thr) c.2234T>C (p.Ile745Thr) | |
12 | g.101753513A>T | CA386292758 | GNPTAB | c.3461T>A (p.Ile1154Asn) c.359T>A (n.359T>A) c.3380T>A (p.Ile1127Asn) c.3245T>A (p.Ile1082Asn) c.2234T>A (p.Ile745Asn) | |
12 | g.101753514T>A | CA386292762 | GNPTAB | c.3460A>T (p.Ile1154Phe) c.358A>T (n.358A>T) c.3379A>T (p.Ile1127Phe) c.3244A>T (p.Ile1082Phe) c.2233A>T (p.Ile745Phe) | |
12 | g.101753514T>C | CA386292759 | GNPTAB | c.3460A>G (p.Ile1154Val) c.358A>G (n.358A>G) c.3379A>G (p.Ile1127Val) c.3244A>G (p.Ile1082Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753514T>G | CA386292760 | GNPTAB | c.3460A>C (p.Ile1154Leu) c.358A>C (n.358A>C) c.3379A>C (p.Ile1127Leu) c.3244A>C (p.Ile1082Leu) c.2233A>C (p.Ile745Leu) | |
12 | g.101753514T= | CA2058950595 | GNPTAB | c.3460A= (p.Ile1154=) c.358A= (n.358A=) c.3379A= (p.Ile1127=) c.3244A= (p.Ile1082=) c.2233A= (p.Ile745=) | |
12 | g.101753517_101753519del | CA2695217191 | GNPTAB | c.3458_3460del (p.Asn1153del) c.356_358del (n.356_358del) c.3377_3379del (p.Asn1126del) c.3242_3244del (p.Asn1081del) c.2231_2233del (p.Asn744del) | |
12 | g.101753515G>A | CA242447930 | GNPTAB | c.3459C>T (p.Asn1153=) c.357C>T (n.357C>T) c.3378C>T (p.Asn1126=) c.3243C>T (p.Asn1081=) c.2232C>T (p.Asn744=) | dbSNP gnomAD v4 |
12 | g.101753515G>C | CA386292764 | GNPTAB | c.3459C>G (p.Asn1153Lys) c.357C>G (n.357C>G) c.3378C>G (p.Asn1126Lys) c.3243C>G (p.Asn1081Lys) c.2232C>G (p.Asn744Lys) | |
12 | g.101753515G= | CA2058950596 | GNPTAB | c.3459C= (p.Asn1153=) c.357C= (n.357C=) c.3378C= (p.Asn1126=) c.3243C= (p.Asn1081=) c.2232C= (p.Asn744=) | |
12 | g.101753515G>T | CA386292765 | GNPTAB | c.3459C>A (p.Asn1153Lys) c.357C>A (n.357C>A) c.3378C>A (p.Asn1126Lys) c.3243C>A (p.Asn1081Lys) c.2232C>A (p.Asn744Lys) | |
12 | g.101753515_101753518dup | CA2573332443 | GNPTAB | c.3456_3459dup (p.Ile1154GlnfsTer3) c.354_357dup (n.354_357dup) c.3375_3378dup (p.Ile1127GlnfsTer3) c.3240_3243dup (p.Ile1082GlnfsTer3) c.2229_2232dup (p.Ile745GlnfsTer3) | |
12 | g.101753516T>A | CA386292767 | GNPTAB | c.3458A>T (p.Asn1153Ile) c.356A>T (n.356A>T) c.3377A>T (p.Asn1126Ile) c.3242A>T (p.Asn1081Ile) c.2231A>T (p.Asn744Ile) | |
12 | g.101753516T>C | CA343402 | GNPTAB | c.3458A>G (p.Asn1153Ser) c.356A>G (n.356A>G) c.3377A>G (p.Asn1126Ser) c.3242A>G (p.Asn1081Ser) c.2231A>G (p.Asn744Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.101753516T>G | CA386292769 | GNPTAB | c.3458A>C (p.Asn1153Thr) c.356A>C (n.356A>C) c.3377A>C (p.Asn1126Thr) c.3242A>C (p.Asn1081Thr) c.2231A>C (p.Asn744Thr) | |
12 | g.101753516T= | CA2058950597 | GNPTAB | c.3458A= (p.Asn1153=) c.356A= (n.356A=) c.3377A= (p.Asn1126=) c.3242A= (p.Asn1081=) c.2231A= (p.Asn744=) | |
12 | g.101753517T>A | CA386292771 | GNPTAB | c.3457A>T (p.Asn1153Tyr) c.355A>T (n.355A>T) c.3376A>T (p.Asn1126Tyr) c.3241A>T (p.Asn1081Tyr) c.2230A>T (p.Asn744Tyr) | |
12 | g.101753517T>C | CA386292773 | GNPTAB | c.3457A>G (p.Asn1153Asp) c.355A>G (n.355A>G) c.3376A>G (p.Asn1126Asp) c.3241A>G (p.Asn1081Asp) c.2230A>G (p.Asn744Asp) | gnomAD v4 |
12 | g.101753517T>G | CA386292774 | GNPTAB | c.3457A>C (p.Asn1153His) c.355A>C (n.355A>C) c.3376A>C (p.Asn1126His) c.3241A>C (p.Asn1081His) c.2230A>C (p.Asn744His) | |
12 | g.101753518G>A | CA481317736 | GNPTAB | c.3456C>T (p.Asp1152=) c.354C>T (n.354C>T) c.3375C>T (p.Asp1125=) c.3240C>T (p.Asp1080=) c.2229C>T (p.Asp743=) | |
12 | g.101753518G>C | CA386292776 | GNPTAB | c.3456C>G (p.Asp1152Glu) c.354C>G (n.354C>G) c.3375C>G (p.Asp1125Glu) c.3240C>G (p.Asp1080Glu) c.2229C>G (p.Asp743Glu) | |
12 | g.101753518G= | CA2058950598 | GNPTAB | c.3456C= (p.Asp1152=) c.354C= (n.354C=) c.3375C= (p.Asp1125=) c.3240C= (p.Asp1080=) c.2229C= (p.Asp743=) | |
12 | g.101753518G>T | CA386292777 | GNPTAB | c.3456C>A (p.Asp1152Glu) c.354C>A (n.354C>A) c.3375C>A (p.Asp1125Glu) c.3240C>A (p.Asp1080Glu) c.2229C>A (p.Asp743Glu) | ClinVar dbSNP |