| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24256063del | CA7131088 | TGM1 | c.1418del (p.Gly473AlafsTer15) c.92del (p.Gly31AlafsTer15) c.491del (p.Gly164AlafsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24256063C>A | CA389256894 | TGM1 | c.1417G>T (p.Gly473Cys) c.91G>T (p.Gly31Cys) c.490G>T (p.Gly164Cys) | gnomAD v4 |
| 14 | g.24256063C= | CA2123832569 | TGM1 | c.1417G= (p.Gly473=) c.91G= (p.Gly31=) c.490G= (p.Gly164=) | |
| 14 | g.24256063C>G | CA389256905 | TGM1 | c.1417G>C (p.Gly473Arg) c.91G>C (p.Gly31Arg) c.490G>C (p.Gly164Arg) | |
| 14 | g.24256063C>T | CA16042921 | TGM1 | c.1417G>A (p.Gly473Ser) c.91G>A (p.Gly31Ser) c.490G>A (p.Gly164Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24256063_24256066delinsCGCA | CA2123832567 | TGM1 | c.1414_1417delinsTGCG (p.Cys472=) c.88_91delinsTGCG (p.Cys30=) c.487_490delinsTGCG (p.Cys163=) | |
| 14 | g.24256063_24256073delinsCGCAGCAGAAG | CA2123832568 | TGM1 | c.1407_1417delinsCTTCTGCTGCG (p.Ile469=) c.81_91delinsCTTCTGCTGCG (p.Ile27=) c.480_490delinsCTTCTGCTGCG (p.Ile160=) | |
| 14 | g.24256064G>A | CA7131089 | TGM1 | c.1416C>T (p.Cys472=) c.90C>T (p.Cys30=) c.489C>T (p.Cys163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24256064G>C | CA389256944 | TGM1 | c.1416C>G (p.Cys472Trp) c.90C>G (p.Cys30Trp) c.489C>G (p.Cys163Trp) | |
| 14 | g.24256064G= | CA2123832582 | TGM1 | c.1416C= (p.Cys472=) c.90C= (p.Cys30=) c.489C= (p.Cys163=) | |
| 14 | g.24256064G>T | CA389256950 | TGM1 | c.1416C>A (p.Cys472Ter) c.90C>A (p.Cys30Ter) c.489C>A (p.Cys163Ter) | gnomAD v4 |
| 14 | g.24256068_24256070del | CA2123832579 | TGM1 | c.1414_1416del (p.Cys472del) c.88_90del (p.Cys30del) c.487_489del (p.Cys163del) | dbSNP |
| 14 | g.24256064_24256073delinsACAGAGC | CA16619856 | TGM1 | c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu) c.81_90delinsGCTCTGT (p.Ile27_Cys29delinsMetLeu) c.480_489delinsGCTCTGT (p.Ile160_Cys162delinsMetLeu) | ClinVar dbSNP |
| 14 | g.24256065C>A | CA389256966 | TGM1 | c.1415G>T (p.Cys472Phe) c.89G>T (p.Cys30Phe) c.488G>T (p.Cys163Phe) | gnomAD v4 |
| 14 | g.24256065C>G | CA389256968 | TGM1 | c.1415G>C (p.Cys472Ser) c.89G>C (p.Cys30Ser) c.488G>C (p.Cys163Ser) | |
| 14 | g.24256065C>T | CA389256969 | TGM1 | c.1415G>A (p.Cys472Tyr) c.89G>A (p.Cys30Tyr) c.488G>A (p.Cys163Tyr) | gnomAD v4 |
| 14 | g.24256066A>C | CA389257007 | TGM1 | c.1414T>G (p.Cys472Gly) c.88T>G (p.Cys30Gly) c.487T>G (p.Cys163Gly) | |
| 14 | g.24256066A>G | CA389256998 | TGM1 | c.1414T>C (p.Cys472Arg) c.88T>C (p.Cys30Arg) c.487T>C (p.Cys163Arg) | |
| 14 | g.24256066A>T | CA389256980 | TGM1 | c.1414T>A (p.Cys472Ser) c.88T>A (p.Cys30Ser) c.487T>A (p.Cys163Ser) | |
| 14 | g.24256067G>A | CA485663638 | TGM1 | c.1413C>T (p.Cys471=) c.87C>T (p.Cys29=) c.486C>T (p.Cys162=) | gnomAD v2 gnomAD v4 |
| 14 | g.24256067G>C | CA389257023 | TGM1 | c.1413C>G (p.Cys471Trp) c.87C>G (p.Cys29Trp) c.486C>G (p.Cys162Trp) | |
| 14 | g.24256067G>T | CA389257025 | TGM1 | c.1413C>A (p.Cys471Ter) c.87C>A (p.Cys29Ter) c.486C>A (p.Cys162Ter) | gnomAD v4 |
| 14 | g.24256068C>A | CA389257027 | TGM1 | c.1412G>T (p.Cys471Phe) c.86G>T (p.Cys29Phe) c.485G>T (p.Cys162Phe) | gnomAD v4 |
| 14 | g.24256068C= | CA2123832590 | TGM1 | c.1412G= (p.Cys471=) c.86G= (p.Cys29=) c.485G= (p.Cys162=) | |
| 14 | g.24256068C>G | CA389257037 | TGM1 | c.1412G>C (p.Cys471Ser) c.86G>C (p.Cys29Ser) c.485G>C (p.Cys162Ser) | |
| 14 | g.24256068C>T | CA389257047 | TGM1 | c.1412G>A (p.Cys471Tyr) c.86G>A (p.Cys29Tyr) c.485G>A (p.Cys162Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24256068_24256071del | CA612959137 | TGM1 | c.1409_1412del (p.Phe470SerfsTer17) c.83_86del (p.Phe28SerfsTer17) c.482_485del (p.Phe161SerfsTer17) | gnomAD v2 |
| 14 | g.24256069A= | CA2123832594 | TGM1 | c.1411T= (p.Cys471=) c.85T= (p.Cys29=) c.484T= (p.Cys162=) | |
| 14 | g.24256069A>C | CA389257050 | TGM1 | c.1411T>G (p.Cys471Gly) c.85T>G (p.Cys29Gly) c.484T>G (p.Cys162Gly) | |
| 14 | g.24256069A>G | CA389257051 | TGM1 | c.1411T>C (p.Cys471Arg) c.85T>C (p.Cys29Arg) c.484T>C (p.Cys162Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24256069A>T | CA389257053 | TGM1 | c.1411T>A (p.Cys471Ser) c.85T>A (p.Cys29Ser) c.484T>A (p.Cys162Ser) | |
| 14 | g.24256072_24256074del | CA2624345719 | TGM1 | c.1409_1411del (p.Phe470del) c.83_85del (p.Phe28del) c.482_484del (p.Phe161del) | gnomAD v4 |
| 14 | g.24256070G>A | CA485663639 | TGM1 | c.1410C>T (p.Phe470=) c.84C>T (p.Phe28=) c.483C>T (p.Phe161=) | gnomAD v4 |
| 14 | g.24256070G>C | CA389257059 | TGM1 | c.1410C>G (p.Phe470Leu) c.84C>G (p.Phe28Leu) c.483C>G (p.Phe161Leu) | |
| 14 | g.24256070G>T | CA389257060 | TGM1 | c.1410C>A (p.Phe470Leu) c.84C>A (p.Phe28Leu) c.483C>A (p.Phe161Leu) | gnomAD v4 |
| 14 | g.24256070_24256071delinsGA | CA2123832597 | TGM1 | c.1409_1410delinsTC (p.Phe470=) c.83_84delinsTC (p.Phe28=) c.482_483delinsTC (p.Phe161=) | |
| 14 | g.24256071A>C | CA389257061 | TGM1 | c.1409T>G (p.Phe470Cys) c.83T>G (p.Phe28Cys) c.482T>G (p.Phe161Cys) | |
| 14 | g.24256071A>G | CA389257062 | TGM1 | c.1409T>C (p.Phe470Ser) c.83T>C (p.Phe28Ser) c.482T>C (p.Phe161Ser) | |
| 14 | g.24256071A>T | CA389257067 | TGM1 | c.1409T>A (p.Phe470Tyr) c.83T>A (p.Phe28Tyr) c.482T>A (p.Phe161Tyr) | |
| 14 | g.24256072del | CA612959138 | TGM1 | c.1409del (p.Phe470SerfsTer18) c.83del (p.Phe28SerfsTer18) c.482del (p.Phe161SerfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24256072A= | CA2123832609 | TGM1 | c.1408T= (p.Phe470=) c.82T= (p.Phe28=) c.481T= (p.Phe161=) | |
| 14 | g.24256072A>C | CA389257077 | TGM1 | c.1408T>G (p.Phe470Val) c.82T>G (p.Phe28Val) c.481T>G (p.Phe161Val) | |
| 14 | g.24256072A>G | CA389257085 | TGM1 | c.1408T>C (p.Phe470Leu) c.82T>C (p.Phe28Leu) c.481T>C (p.Phe161Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24256072A>T | CA389257074 | TGM1 | c.1408T>A (p.Phe470Ile) c.82T>A (p.Phe28Ile) c.481T>A (p.Phe161Ile) | gnomAD v4 |
| 14 | g.24256073G>A | CA485663640 | TGM1 | c.1407C>T (p.Ile469=) c.81C>T (p.Ile27=) c.480C>T (p.Ile160=) | gnomAD v4 |
| 14 | g.24256073G>C | CA389257087 | TGM1 | c.1407C>G (p.Ile469Met) c.81C>G (p.Ile27Met) c.480C>G (p.Ile160Met) | |
| 14 | g.24256073G= | CA2123832615 | TGM1 | c.1407C= (p.Ile469=) c.81C= (p.Ile27=) c.480C= (p.Ile160=) | |
| 14 | g.24256073G>T | CA485663641 | TGM1 | c.1407C>A (p.Ile469=) c.81C>A (p.Ile27=) c.480C>A (p.Ile160=) | gnomAD v4 |
| 14 | g.24256073_24256074insC | CA612959139 | TGM1 | c.1406_1407insG (p.Ile469MetfsTer29) c.80_81insG (p.Ile27MetfsTer29) c.479_480insG (p.Ile160MetfsTer29) | dbSNP gnomAD v2 |
| 14 | g.24256074A= | CA2123832625 | TGM1 | c.1406T= (p.Ile469=) c.80T= (p.Ile27=) c.479T= (p.Ile160=) |