| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24259078_24259092del | CA2624346240 | TGM1 | c.1143_1157del (p.Gly382_Thr386del) c.-28-703_-28-689del (n.-28-703_-28-689del) c.216_230del (p.Gly73_Thr77del) | gnomAD v4 |
| 14 | g.24259087C>A | CA389263405 | TGM1 | c.1147G>T (p.Val383Leu) c.-28-699G>T (n.-28-699G>T) c.220G>T (p.Val74Leu) | |
| 14 | g.24259087C= | CA2123854561 | TGM1 | c.1147G= (p.Val383=) c.-28-699G= (n.-28-699G=) c.220G= (p.Val74=) | |
| 14 | g.24259087C>G | CA389263408 | TGM1 | c.1147G>C (p.Val383Leu) c.-28-699G>C (n.-28-699G>C) c.220G>C (p.Val74Leu) | |
| 14 | g.24259087C>T | CA256466 | TGM1 | c.1147G>A (p.Val383Met) c.-28-699G>A (n.-28-699G>A) c.220G>A (p.Val74Met) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24259088G>A | CA7131185 | TGM1 | c.1146C>T (p.Gly382=) c.-28-700C>T (n.-28-700C>T) c.219C>T (p.Gly73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259088G>C | CA485663826 | TGM1 | c.1146C>G (p.Gly382=) c.-28-700C>G (n.-28-700C>G) c.219C>G (p.Gly73=) | |
| 14 | g.24259088G= | CA1630856014 | TGM1 | c.1146C= (p.Gly382=) c.-28-700C= (n.-28-700C=) c.219C= (p.Gly73=) | |
| 14 | g.24259088G>T | CA7131184 | TGM1 | c.1146C>A (p.Gly382=) c.-28-700C>A (n.-28-700C>A) c.219C>A (p.Gly73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259088_24259089delinsAGCA | CA2695199807 | TGM1 | c.1145_1146delinsTGCT (p.Gly382ValfsTer3) c.-28-701_-28-700delinsTGCT (n.-28-701_-28-700delinsTGCT) c.218_219delinsTGCT (p.Gly73ValfsTer3) | |
| 14 | g.24259089C>A | CA389263428 | TGM1 | c.1145G>T (p.Gly382Val) c.-28-701G>T (n.-28-701G>T) c.218G>T (p.Gly73Val) | |
| 14 | g.24259089C>G | CA389263426 | TGM1 | c.1145G>C (p.Gly382Ala) c.-28-701G>C (n.-28-701G>C) c.218G>C (p.Gly73Ala) | |
| 14 | g.24259089C>T | CA389263427 | TGM1 | c.1145G>A (p.Gly382Asp) c.-28-701G>A (n.-28-701G>A) c.218G>A (p.Gly73Asp) | |
| 14 | g.24259090C>A | CA389263439 | TGM1 | c.1144G>T (p.Gly382Cys) c.-28-702G>T (n.-28-702G>T) c.217G>T (p.Gly73Cys) | |
| 14 | g.24259090C>G | CA389263442 | TGM1 | c.1144G>C (p.Gly382Arg) c.-28-702G>C (n.-28-702G>C) c.217G>C (p.Gly73Arg) | |
| 14 | g.24259090C>T | CA389263445 | TGM1 | c.1144G>A (p.Gly382Ser) c.-28-702G>A (n.-28-702G>A) c.217G>A (p.Gly73Ser) | |
| 14 | g.24259091A= | CA2123854562 | TGM1 | c.1143T= (p.Ala381=) c.-28-703T= (n.-28-703T=) c.216T= (p.Ala72=) | |
| 14 | g.24259091A>C | CA7131186 | TGM1 | c.1143T>G (p.Ala381=) c.-28-703T>G (n.-28-703T>G) c.216T>G (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259091A>G | CA485663827 | TGM1 | c.1143T>C (p.Ala381=) c.-28-703T>C (n.-28-703T>C) c.216T>C (p.Ala72=) | |
| 14 | g.24259091A>T | CA485663828 | TGM1 | c.1143T>A (p.Ala381=) c.-28-703T>A (n.-28-703T>A) c.216T>A (p.Ala72=) | |
| 14 | g.24259092G>A | CA389263453 | TGM1 | c.1142C>T (p.Ala381Val) c.-28-704C>T (n.-28-704C>T) c.215C>T (p.Ala72Val) | |
| 14 | g.24259092G>C | CA389263463 | TGM1 | c.1142C>G (p.Ala381Gly) c.-28-704C>G (n.-28-704C>G) c.215C>G (p.Ala72Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24259092G= | CA2123854563 | TGM1 | c.1142C= (p.Ala381=) c.-28-704C= (n.-28-704C=) c.215C= (p.Ala72=) | |
| 14 | g.24259092G>T | CA389263475 | TGM1 | c.1142C>A (p.Ala381Asp) c.-28-704C>A (n.-28-704C>A) c.215C>A (p.Ala72Asp) | |
| 14 | g.24259093C>A | CA389263492 | TGM1 | c.1141G>T (p.Ala381Ser) c.-28-705G>T (n.-28-705G>T) c.214G>T (p.Ala72Ser) | gnomAD v4 |
| 14 | g.24259093C>G | CA389263504 | TGM1 | c.1141G>C (p.Ala381Pro) c.-28-705G>C (n.-28-705G>C) c.214G>C (p.Ala72Pro) | |
| 14 | g.24259093C>T | CA389263513 | TGM1 | c.1141G>A (p.Ala381Thr) c.-28-705G>A (n.-28-705G>A) c.214G>A (p.Ala72Thr) | |
| 14 | g.24259094A>C | CA389263516 | TGM1 | c.1140T>G (p.Phe380Leu) c.-28-706T>G (n.-28-706T>G) c.213T>G (p.Phe71Leu) | |
| 14 | g.24259094A>G | CA485663829 | TGM1 | c.1140T>C (p.Phe380=) c.-28-706T>C (n.-28-706T>C) c.213T>C (p.Phe71=) | |
| 14 | g.24259094A>T | CA389263515 | TGM1 | c.1140T>A (p.Phe380Leu) c.-28-706T>A (n.-28-706T>A) c.213T>A (p.Phe71Leu) | |
| 14 | g.24259095A>C | CA389263522 | TGM1 | c.1139T>G (p.Phe380Cys) c.-28-707T>G (n.-28-707T>G) c.212T>G (p.Phe71Cys) | |
| 14 | g.24259095A>G | CA389263523 | TGM1 | c.1139T>C (p.Phe380Ser) c.-28-707T>C (n.-28-707T>C) c.212T>C (p.Phe71Ser) | |
| 14 | g.24259095A>T | CA389263524 | TGM1 | c.1139T>A (p.Phe380Tyr) c.-28-707T>A (n.-28-707T>A) c.212T>A (p.Phe71Tyr) | |
| 14 | g.24259096A= | CA2123854564 | TGM1 | c.1138T= (p.Phe380=) c.-28-708T= (n.-28-708T=) c.211T= (p.Phe71=) | |
| 14 | g.24259096A>C | CA389263525 | TGM1 | c.1138T>G (p.Phe380Val) c.-28-708T>G (n.-28-708T>G) c.211T>G (p.Phe71Val) | |
| 14 | g.24259096A>G | CA257898467 | TGM1 | c.1138T>C (p.Phe380Leu) c.-28-708T>C (n.-28-708T>C) c.211T>C (p.Phe71Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24259096A>T | CA389263549 | TGM1 | c.1138T>A (p.Phe380Ile) c.-28-708T>A (n.-28-708T>A) c.211T>A (p.Phe71Ile) | |
| 14 | g.24259097G>A | CA485663830 | TGM1 | c.1137C>T (p.Val379=) c.-28-709C>T (n.-28-709C>T) c.210C>T (p.Val70=) | |
| 14 | g.24259097G>C | CA257898477 | TGM1 | c.1137C>G (p.Val379=) c.-28-709C>G (n.-28-709C>G) c.210C>G (p.Val70=) | dbSNP |
| 14 | g.24259097G= | CA2123854565 | TGM1 | c.1137C= (p.Val379=) c.-28-709C= (n.-28-709C=) c.210C= (p.Val70=) | |
| 14 | g.24259097G>T | CA485663831 | TGM1 | c.1137C>A (p.Val379=) c.-28-709C>A (n.-28-709C>A) c.210C>A (p.Val70=) | |
| 14 | g.24259098A= | CA2123854566 | TGM1 | c.1136T= (p.Val379=) c.-28-710T= (n.-28-710T=) c.209T= (p.Val70=) | |
| 14 | g.24259098A>C | CA389263570 | TGM1 | c.1136T>G (p.Val379Gly) c.-28-710T>G (n.-28-710T>G) c.209T>G (p.Val70Gly) | dbSNP |
| 14 | g.24259098A>G | CA389263578 | TGM1 | c.1136T>C (p.Val379Ala) c.-28-710T>C (n.-28-710T>C) c.209T>C (p.Val70Ala) | |
| 14 | g.24259098A>T | CA389263583 | TGM1 | c.1136T>A (p.Val379Asp) c.-28-710T>A (n.-28-710T>A) c.209T>A (p.Val70Asp) | |
| 14 | g.24259099C>A | CA389263593 | TGM1 | c.1135G>T (p.Val379Phe) c.-28-711G>T (n.-28-711G>T) c.208G>T (p.Val70Phe) | |
| 14 | g.24259099C= | CA2123854567 | TGM1 | c.1135G= (p.Val379=) c.-28-711G= (n.-28-711G=) c.208G= (p.Val70=) | |
| 14 | g.24259099C>G | CA256464 | TGM1 | c.1135G>C (p.Val379Leu) c.-28-711G>C (n.-28-711G>C) c.208G>C (p.Val70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259099C>T | CA257898498 | TGM1 | c.1135G>A (p.Val379Ile) c.-28-711G>A (n.-28-711G>A) c.208G>A (p.Val70Ile) | dbSNP |
| 14 | g.24259100C>A | CA389263626 | TGM1 | c.1134G>T (p.Trp378Cys) c.-28-712G>T (n.-28-712G>T) c.207G>T (p.Trp69Cys) | ClinVar gnomAD v4 |