Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.1917264A= | CA1233801024 | MYT1L | c.1553T= (p.Leu518=) c.1048T= c.1054T= c.1559T= (p.Leu520=) c.581T= (p.Leu194=) c.76T= c.506-24977T= (n.506-24977T=) c.302T= (p.Leu101=) c.1496T= (p.Leu499=) c.354T= c.774T= c.753T= c.1477+5028T= (n.1477+5028T=) c.74T= (p.Leu25=) c.*996T= (n.*996T=) c.410-24977T= (n.410-24977T=) c.1556T= (p.Leu519=) c.521T= (p.Leu174=) c.1265T= (p.Leu422=) | |
2 | g.1917264A>C | CA345701997 | MYT1L | c.1553T>G (p.Leu518Arg) c.1048T>G c.1054T>G c.1559T>G (p.Leu520Arg) c.581T>G (p.Leu194Arg) c.76T>G c.506-24977T>G (n.506-24977T>G) c.302T>G (p.Leu101Arg) c.1496T>G (p.Leu499Arg) c.354T>G c.774T>G c.753T>G c.1477+5028T>G (n.1477+5028T>G) c.74T>G (p.Leu25Arg) c.*996T>G (n.*996T>G) c.410-24977T>G (n.410-24977T>G) c.1556T>G (p.Leu519Arg) c.521T>G (p.Leu174Arg) c.1265T>G (p.Leu422Arg) | |
2 | g.1917264A>G | CA16044342 | MYT1L | c.1553T>C (p.Leu518Pro) c.1048T>C c.1054T>C c.1559T>C (p.Leu520Pro) c.581T>C (p.Leu194Pro) c.76T>C c.506-24977T>C (n.506-24977T>C) c.302T>C (p.Leu101Pro) c.1496T>C (p.Leu499Pro) c.354T>C c.774T>C c.753T>C c.1477+5028T>C (n.1477+5028T>C) c.74T>C (p.Leu25Pro) c.*996T>C (n.*996T>C) c.410-24977T>C (n.410-24977T>C) c.1556T>C (p.Leu519Pro) c.521T>C (p.Leu174Pro) c.1265T>C (p.Leu422Pro) | ClinVar dbSNP |
2 | g.1917264A>T | CA345701998 | MYT1L | c.1553T>A (p.Leu518Gln) c.1048T>A c.1054T>A c.1559T>A (p.Leu520Gln) c.581T>A (p.Leu194Gln) c.76T>A c.506-24977T>A (n.506-24977T>A) c.302T>A (p.Leu101Gln) c.1496T>A (p.Leu499Gln) c.354T>A c.774T>A c.753T>A c.1477+5028T>A (n.1477+5028T>A) c.74T>A (p.Leu25Gln) c.*996T>A (n.*996T>A) c.410-24977T>A (n.410-24977T>A) c.1556T>A (p.Leu519Gln) c.521T>A (p.Leu174Gln) c.1265T>A (p.Leu422Gln) | |
2 | g.1917265G>A | CA424516931 | MYT1L | c.1552C>T (p.Leu518=) c.1047C>T c.1053C>T c.1558C>T (p.Leu520=) c.580C>T (p.Leu194=) c.75C>T c.506-24978C>T (n.506-24978C>T) c.301C>T (p.Leu101=) c.1495C>T (p.Leu499=) c.353C>T c.773C>T c.752C>T c.1477+5027C>T (n.1477+5027C>T) c.73C>T (p.Leu25=) c.*995C>T (n.*995C>T) c.410-24978C>T (n.410-24978C>T) c.1555C>T (p.Leu519=) c.520C>T (p.Leu174=) c.1264C>T (p.Leu422=) | |
2 | g.1917265G>C | CA345702000 | MYT1L | c.1552C>G (p.Leu518Val) c.1047C>G c.1053C>G c.1558C>G (p.Leu520Val) c.580C>G (p.Leu194Val) c.75C>G c.506-24978C>G (n.506-24978C>G) c.301C>G (p.Leu101Val) c.1495C>G (p.Leu499Val) c.353C>G c.773C>G c.752C>G c.1477+5027C>G (n.1477+5027C>G) c.73C>G (p.Leu25Val) c.*995C>G (n.*995C>G) c.410-24978C>G (n.410-24978C>G) c.1555C>G (p.Leu519Val) c.520C>G (p.Leu174Val) c.1264C>G (p.Leu422Val) | |
2 | g.1917265G>T | CA345701999 | MYT1L | c.1552C>A (p.Leu518Met) c.1047C>A c.1053C>A c.1558C>A (p.Leu520Met) c.580C>A (p.Leu194Met) c.75C>A c.506-24978C>A (n.506-24978C>A) c.301C>A (p.Leu101Met) c.1495C>A (p.Leu499Met) c.353C>A c.773C>A c.752C>A c.1477+5027C>A (n.1477+5027C>A) c.73C>A (p.Leu25Met) c.*995C>A (n.*995C>A) c.410-24978C>A (n.410-24978C>A) c.1555C>A (p.Leu519Met) c.520C>A (p.Leu174Met) c.1264C>A (p.Leu422Met) | |
2 | g.1917266C>A | CA424516933 | MYT1L | c.1551G>T (p.Gly517=) c.1046G>T c.1052G>T c.1557G>T (p.Gly519=) c.579G>T (p.Gly193=) c.74G>T c.506-24979G>T (n.506-24979G>T) c.300G>T (p.Gly100=) c.1494G>T (p.Gly498=) c.352G>T c.772G>T c.751G>T c.1477+5026G>T (n.1477+5026G>T) c.72G>T (p.Gly24=) c.*994G>T (n.*994G>T) c.410-24979G>T (n.410-24979G>T) c.1554G>T (p.Gly518=) c.519G>T (p.Gly173=) c.1263G>T (p.Gly421=) | |
2 | g.1917266C>G | CA424516934 | MYT1L | c.1551G>C (p.Gly517=) c.1046G>C c.1052G>C c.1557G>C (p.Gly519=) c.579G>C (p.Gly193=) c.74G>C c.506-24979G>C (n.506-24979G>C) c.300G>C (p.Gly100=) c.1494G>C (p.Gly498=) c.352G>C c.772G>C c.751G>C c.1477+5026G>C (n.1477+5026G>C) c.72G>C (p.Gly24=) c.*994G>C (n.*994G>C) c.410-24979G>C (n.410-24979G>C) c.1554G>C (p.Gly518=) c.519G>C (p.Gly173=) c.1263G>C (p.Gly421=) | |
2 | g.1917266C>T | CA424516932 | MYT1L | c.1551G>A (p.Gly517=) c.1046G>A c.1052G>A c.1557G>A (p.Gly519=) c.579G>A (p.Gly193=) c.74G>A c.506-24979G>A (n.506-24979G>A) c.300G>A (p.Gly100=) c.1494G>A (p.Gly498=) c.352G>A c.772G>A c.751G>A c.1477+5026G>A (n.1477+5026G>A) c.72G>A (p.Gly24=) c.*994G>A (n.*994G>A) c.410-24979G>A (n.410-24979G>A) c.1554G>A (p.Gly518=) c.519G>A (p.Gly173=) c.1263G>A (p.Gly421=) | |
2 | g.1917267C>A | CA345702001 | MYT1L | c.1550G>T (p.Gly517Val) c.1045G>T c.1051G>T c.1556G>T (p.Gly519Val) c.578G>T (p.Gly193Val) c.73G>T c.506-24980G>T (n.506-24980G>T) c.299G>T (p.Gly100Val) c.1493G>T (p.Gly498Val) c.351G>T c.771G>T c.750G>T c.1477+5025G>T (n.1477+5025G>T) c.71G>T (p.Gly24Val) c.*993G>T (n.*993G>T) c.410-24980G>T (n.410-24980G>T) c.1553G>T (p.Gly518Val) c.518G>T (p.Gly173Val) c.1262G>T (p.Gly421Val) | COSMIC COSMIC |
2 | g.1917267C>G | CA345702002 | MYT1L | c.1550G>C (p.Gly517Ala) c.1045G>C c.1051G>C c.1556G>C (p.Gly519Ala) c.578G>C (p.Gly193Ala) c.73G>C c.506-24980G>C (n.506-24980G>C) c.299G>C (p.Gly100Ala) c.1493G>C (p.Gly498Ala) c.351G>C c.771G>C c.750G>C c.1477+5025G>C (n.1477+5025G>C) c.71G>C (p.Gly24Ala) c.*993G>C (n.*993G>C) c.410-24980G>C (n.410-24980G>C) c.1553G>C (p.Gly518Ala) c.518G>C (p.Gly173Ala) c.1262G>C (p.Gly421Ala) | |
2 | g.1917267C>T | CA345702003 | MYT1L | c.1550G>A (p.Gly517Glu) c.1045G>A c.1051G>A c.1556G>A (p.Gly519Glu) c.578G>A (p.Gly193Glu) c.73G>A c.506-24980G>A (n.506-24980G>A) c.299G>A (p.Gly100Glu) c.1493G>A (p.Gly498Glu) c.351G>A c.771G>A c.750G>A c.1477+5025G>A (n.1477+5025G>A) c.71G>A (p.Gly24Glu) c.*993G>A (n.*993G>A) c.410-24980G>A (n.410-24980G>A) c.1553G>A (p.Gly518Glu) c.518G>A (p.Gly173Glu) c.1262G>A (p.Gly421Glu) | |
2 | g.1917268C>A | CA345702004 | MYT1L | c.1549G>T (p.Gly517Trp) c.1044G>T c.1050G>T c.1555G>T (p.Gly519Trp) c.577G>T (p.Gly193Trp) c.72G>T c.506-24981G>T (n.506-24981G>T) c.298G>T (p.Gly100Trp) c.1492G>T (p.Gly498Trp) c.350G>T c.770G>T c.749G>T c.1477+5024G>T (n.1477+5024G>T) c.70G>T (p.Gly24Trp) c.*992G>T (n.*992G>T) c.410-24981G>T (n.410-24981G>T) c.1552G>T (p.Gly518Trp) c.517G>T (p.Gly173Trp) c.1261G>T (p.Gly421Trp) | |
2 | g.1917268C>G | CA345702005 | MYT1L | c.1549G>C (p.Gly517Arg) c.1044G>C c.1050G>C c.1555G>C (p.Gly519Arg) c.577G>C (p.Gly193Arg) c.72G>C c.506-24981G>C (n.506-24981G>C) c.298G>C (p.Gly100Arg) c.1492G>C (p.Gly498Arg) c.350G>C c.770G>C c.749G>C c.1477+5024G>C (n.1477+5024G>C) c.70G>C (p.Gly24Arg) c.*992G>C (n.*992G>C) c.410-24981G>C (n.410-24981G>C) c.1552G>C (p.Gly518Arg) c.517G>C (p.Gly173Arg) c.1261G>C (p.Gly421Arg) | |
2 | g.1917268C>T | CA345702006 | MYT1L | c.1549G>A (p.Gly517Arg) c.1044G>A c.1050G>A c.1555G>A (p.Gly519Arg) c.577G>A (p.Gly193Arg) c.72G>A c.506-24981G>A (n.506-24981G>A) c.298G>A (p.Gly100Arg) c.1492G>A (p.Gly498Arg) c.350G>A c.770G>A c.749G>A c.1477+5024G>A (n.1477+5024G>A) c.70G>A (p.Gly24Arg) c.*992G>A (n.*992G>A) c.410-24981G>A (n.410-24981G>A) c.1552G>A (p.Gly518Arg) c.517G>A (p.Gly173Arg) c.1261G>A (p.Gly421Arg) | |
2 | g.1917269A= | CA1233801025 | MYT1L | c.1548T= (p.Thr516=) c.1043T= c.1049T= c.1554T= (p.Thr518=) c.576T= (p.Thr192=) c.71T= c.506-24982T= (n.506-24982T=) c.297T= (p.Thr99=) c.1491T= (p.Thr497=) c.349T= c.769T= c.748T= c.1477+5023T= (n.1477+5023T=) c.69T= (p.Thr23=) c.*991T= (n.*991T=) c.410-24982T= (n.410-24982T=) c.1551T= (p.Thr517=) c.516T= (p.Thr172=) c.1260T= (p.Thr420=) | |
2 | g.1917269A>C | CA424516935 | MYT1L | c.1548T>G (p.Thr516=) c.1043T>G c.1049T>G c.1554T>G (p.Thr518=) c.576T>G (p.Thr192=) c.71T>G c.506-24982T>G (n.506-24982T>G) c.297T>G (p.Thr99=) c.1491T>G (p.Thr497=) c.349T>G c.769T>G c.748T>G c.1477+5023T>G (n.1477+5023T>G) c.69T>G (p.Thr23=) c.*991T>G (n.*991T>G) c.410-24982T>G (n.410-24982T>G) c.1551T>G (p.Thr517=) c.516T>G (p.Thr172=) c.1260T>G (p.Thr420=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.1917269A>G | CA424516937 | MYT1L | c.1548T>C (p.Thr516=) c.1043T>C c.1049T>C c.1554T>C (p.Thr518=) c.576T>C (p.Thr192=) c.71T>C c.506-24982T>C (n.506-24982T>C) c.297T>C (p.Thr99=) c.1491T>C (p.Thr497=) c.349T>C c.769T>C c.748T>C c.1477+5023T>C (n.1477+5023T>C) c.69T>C (p.Thr23=) c.*991T>C (n.*991T>C) c.410-24982T>C (n.410-24982T>C) c.1551T>C (p.Thr517=) c.516T>C (p.Thr172=) c.1260T>C (p.Thr420=) | |
2 | g.1917269A>T | CA424516936 | MYT1L | c.1548T>A (p.Thr516=) c.1043T>A c.1049T>A c.1554T>A (p.Thr518=) c.576T>A (p.Thr192=) c.71T>A c.506-24982T>A (n.506-24982T>A) c.297T>A (p.Thr99=) c.1491T>A (p.Thr497=) c.349T>A c.769T>A c.748T>A c.1477+5023T>A (n.1477+5023T>A) c.69T>A (p.Thr23=) c.*991T>A (n.*991T>A) c.410-24982T>A (n.410-24982T>A) c.1551T>A (p.Thr517=) c.516T>A (p.Thr172=) c.1260T>A (p.Thr420=) | |
2 | g.1917270G>A | CA345702007 | MYT1L | c.1547C>T (p.Thr516Ile) c.1042C>T c.1048C>T c.1553C>T (p.Thr518Ile) c.575C>T (p.Thr192Ile) c.70C>T c.506-24983C>T (n.506-24983C>T) c.296C>T (p.Thr99Ile) c.1490C>T (p.Thr497Ile) c.348C>T c.768C>T c.747C>T c.1477+5022C>T (n.1477+5022C>T) c.68C>T (p.Thr23Ile) c.*990C>T (n.*990C>T) c.410-24983C>T (n.410-24983C>T) c.1550C>T (p.Thr517Ile) c.515C>T (p.Thr172Ile) c.1259C>T (p.Thr420Ile) | |
2 | g.1917270G>C | CA345702009 | MYT1L | c.1547C>G (p.Thr516Ser) c.1042C>G c.1048C>G c.1553C>G (p.Thr518Ser) c.575C>G (p.Thr192Ser) c.70C>G c.506-24983C>G (n.506-24983C>G) c.296C>G (p.Thr99Ser) c.1490C>G (p.Thr497Ser) c.348C>G c.768C>G c.747C>G c.1477+5022C>G (n.1477+5022C>G) c.68C>G (p.Thr23Ser) c.*990C>G (n.*990C>G) c.410-24983C>G (n.410-24983C>G) c.1550C>G (p.Thr517Ser) c.515C>G (p.Thr172Ser) c.1259C>G (p.Thr420Ser) | |
2 | g.1917270G>T | CA345702008 | MYT1L | c.1547C>A (p.Thr516Asn) c.1042C>A c.1048C>A c.1553C>A (p.Thr518Asn) c.575C>A (p.Thr192Asn) c.70C>A c.506-24983C>A (n.506-24983C>A) c.296C>A (p.Thr99Asn) c.1490C>A (p.Thr497Asn) c.348C>A c.768C>A c.747C>A c.1477+5022C>A (n.1477+5022C>A) c.68C>A (p.Thr23Asn) c.*990C>A (n.*990C>A) c.410-24983C>A (n.410-24983C>A) c.1550C>A (p.Thr517Asn) c.515C>A (p.Thr172Asn) c.1259C>A (p.Thr420Asn) | |
2 | g.1917271T>A | CA345702010 | MYT1L | c.1546A>T (p.Thr516Ser) c.1041A>T c.1047A>T c.1552A>T (p.Thr518Ser) c.574A>T (p.Thr192Ser) c.69A>T c.506-24984A>T (n.506-24984A>T) c.295A>T (p.Thr99Ser) c.1489A>T (p.Thr497Ser) c.347A>T c.767A>T c.746A>T c.1477+5021A>T (n.1477+5021A>T) c.67A>T (p.Thr23Ser) c.*989A>T (n.*989A>T) c.410-24984A>T (n.410-24984A>T) c.1549A>T (p.Thr517Ser) c.514A>T (p.Thr172Ser) c.1258A>T (p.Thr420Ser) | |
2 | g.1917271T>C | CA345702011 | MYT1L | c.1546A>G (p.Thr516Ala) c.1041A>G c.1047A>G c.1552A>G (p.Thr518Ala) c.574A>G (p.Thr192Ala) c.69A>G c.506-24984A>G (n.506-24984A>G) c.295A>G (p.Thr99Ala) c.1489A>G (p.Thr497Ala) c.347A>G c.767A>G c.746A>G c.1477+5021A>G (n.1477+5021A>G) c.67A>G (p.Thr23Ala) c.*989A>G (n.*989A>G) c.410-24984A>G (n.410-24984A>G) c.1549A>G (p.Thr517Ala) c.514A>G (p.Thr172Ala) c.1258A>G (p.Thr420Ala) | |
2 | g.1917271T>G | CA345702012 | MYT1L | c.1546A>C (p.Thr516Pro) c.1041A>C c.1047A>C c.1552A>C (p.Thr518Pro) c.574A>C (p.Thr192Pro) c.69A>C c.506-24984A>C (n.506-24984A>C) c.295A>C (p.Thr99Pro) c.1489A>C (p.Thr497Pro) c.347A>C c.767A>C c.746A>C c.1477+5021A>C (n.1477+5021A>C) c.67A>C (p.Thr23Pro) c.*989A>C (n.*989A>C) c.410-24984A>C (n.410-24984A>C) c.1549A>C (p.Thr517Pro) c.514A>C (p.Thr172Pro) c.1258A>C (p.Thr420Pro) | |
2 | g.1917272T>A | CA424516940 | MYT1L | c.1545A>T (p.Val515=) c.1040A>T c.1046A>T c.1551A>T (p.Val517=) c.573A>T (p.Val191=) c.68A>T c.506-24985A>T (n.506-24985A>T) c.294A>T (p.Val98=) c.1488A>T (p.Val496=) c.346A>T c.766A>T c.745A>T c.1477+5020A>T (n.1477+5020A>T) c.66A>T (p.Val22=) c.*988A>T (n.*988A>T) c.410-24985A>T (n.410-24985A>T) c.1548A>T (p.Val516=) c.513A>T (p.Val171=) c.1257A>T (p.Val419=) | |
2 | g.1917272T>C | CA424516939 | MYT1L | c.1545A>G (p.Val515=) c.1040A>G c.1046A>G c.1551A>G (p.Val517=) c.573A>G (p.Val191=) c.68A>G c.506-24985A>G (n.506-24985A>G) c.294A>G (p.Val98=) c.1488A>G (p.Val496=) c.346A>G c.766A>G c.745A>G c.1477+5020A>G (n.1477+5020A>G) c.66A>G (p.Val22=) c.*988A>G (n.*988A>G) c.410-24985A>G (n.410-24985A>G) c.1548A>G (p.Val516=) c.513A>G (p.Val171=) c.1257A>G (p.Val419=) | |
2 | g.1917272T>G | CA424516938 | MYT1L | c.1545A>C (p.Val515=) c.1040A>C c.1046A>C c.1551A>C (p.Val517=) c.573A>C (p.Val191=) c.68A>C c.506-24985A>C (n.506-24985A>C) c.294A>C (p.Val98=) c.1488A>C (p.Val496=) c.346A>C c.766A>C c.745A>C c.1477+5020A>C (n.1477+5020A>C) c.66A>C (p.Val22=) c.*988A>C (n.*988A>C) c.410-24985A>C (n.410-24985A>C) c.1548A>C (p.Val516=) c.513A>C (p.Val171=) c.1257A>C (p.Val419=) | |
2 | g.1917273A>C | CA345702013 | MYT1L | c.1544T>G (p.Val515Gly) c.1039T>G c.1045T>G c.1550T>G (p.Val517Gly) c.572T>G (p.Val191Gly) c.67T>G c.506-24986T>G (n.506-24986T>G) c.293T>G (p.Val98Gly) c.1487T>G (p.Val496Gly) c.345T>G c.765T>G c.744T>G c.1477+5019T>G (n.1477+5019T>G) c.65T>G (p.Val22Gly) c.*987T>G (n.*987T>G) c.410-24986T>G (n.410-24986T>G) c.1547T>G (p.Val516Gly) c.512T>G (p.Val171Gly) c.1256T>G (p.Val419Gly) | |
2 | g.1917273A>G | CA345702014 | MYT1L | c.1544T>C (p.Val515Ala) c.1039T>C c.1045T>C c.1550T>C (p.Val517Ala) c.572T>C (p.Val191Ala) c.67T>C c.506-24986T>C (n.506-24986T>C) c.293T>C (p.Val98Ala) c.1487T>C (p.Val496Ala) c.345T>C c.765T>C c.744T>C c.1477+5019T>C (n.1477+5019T>C) c.65T>C (p.Val22Ala) c.*987T>C (n.*987T>C) c.410-24986T>C (n.410-24986T>C) c.1547T>C (p.Val516Ala) c.512T>C (p.Val171Ala) c.1256T>C (p.Val419Ala) | |
2 | g.1917273A>T | CA345702015 | MYT1L | c.1544T>A (p.Val515Glu) c.1039T>A c.1045T>A c.1550T>A (p.Val517Glu) c.572T>A (p.Val191Glu) c.67T>A c.506-24986T>A (n.506-24986T>A) c.293T>A (p.Val98Glu) c.1487T>A (p.Val496Glu) c.345T>A c.765T>A c.744T>A c.1477+5019T>A (n.1477+5019T>A) c.65T>A (p.Val22Glu) c.*987T>A (n.*987T>A) c.410-24986T>A (n.410-24986T>A) c.1547T>A (p.Val516Glu) c.512T>A (p.Val171Glu) c.1256T>A (p.Val419Glu) | |
2 | g.1917274C>A | CA345702016 | MYT1L | c.1543G>T (p.Val515Leu) c.1038G>T c.1044G>T c.1549G>T (p.Val517Leu) c.571G>T (p.Val191Leu) c.66G>T c.506-24987G>T (n.506-24987G>T) c.292G>T (p.Val98Leu) c.1486G>T (p.Val496Leu) c.344G>T c.764G>T c.743G>T c.1477+5018G>T (n.1477+5018G>T) c.64G>T (p.Val22Leu) c.*986G>T (n.*986G>T) c.410-24987G>T (n.410-24987G>T) c.1546G>T (p.Val516Leu) c.511G>T (p.Val171Leu) c.1255G>T (p.Val419Leu) | |
2 | g.1917274C= | CA1233801026 | MYT1L | c.1543G= (p.Val515=) c.1038G= c.1044G= c.1549G= (p.Val517=) c.571G= (p.Val191=) c.66G= c.506-24987G= (n.506-24987G=) c.292G= (p.Val98=) c.1486G= (p.Val496=) c.344G= c.764G= c.743G= c.1477+5018G= (n.1477+5018G=) c.64G= (p.Val22=) c.*986G= (n.*986G=) c.410-24987G= (n.410-24987G=) c.1546G= (p.Val516=) c.511G= (p.Val171=) c.1255G= (p.Val419=) | |
2 | g.1917274C>G | CA345702017 | MYT1L | c.1543G>C (p.Val515Leu) c.1038G>C c.1044G>C c.1549G>C (p.Val517Leu) c.571G>C (p.Val191Leu) c.66G>C c.506-24987G>C (n.506-24987G>C) c.292G>C (p.Val98Leu) c.1486G>C (p.Val496Leu) c.344G>C c.764G>C c.743G>C c.1477+5018G>C (n.1477+5018G>C) c.64G>C (p.Val22Leu) c.*986G>C (n.*986G>C) c.410-24987G>C (n.410-24987G>C) c.1546G>C (p.Val516Leu) c.511G>C (p.Val171Leu) c.1255G>C (p.Val419Leu) | |
2 | g.1917274C>T | CA1514215 | MYT1L | c.1543G>A (p.Val515Ile) c.1038G>A c.1044G>A c.1549G>A (p.Val517Ile) c.571G>A (p.Val191Ile) c.66G>A c.506-24987G>A (n.506-24987G>A) c.292G>A (p.Val98Ile) c.1486G>A (p.Val496Ile) c.344G>A c.764G>A c.743G>A c.1477+5018G>A (n.1477+5018G>A) c.64G>A (p.Val22Ile) c.*986G>A (n.*986G>A) c.410-24987G>A (n.410-24987G>A) c.1546G>A (p.Val516Ile) c.511G>A (p.Val171Ile) c.1255G>A (p.Val419Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917275G>A | CA1514216 | MYT1L | c.1542C>T (p.His514=) c.1037C>T c.1043C>T c.1548C>T (p.His516=) c.570C>T (p.His190=) c.65C>T c.506-24988C>T (n.506-24988C>T) c.291C>T (p.His97=) c.1485C>T (p.His495=) c.343C>T c.763C>T c.742C>T c.1477+5017C>T (n.1477+5017C>T) c.63C>T (p.His21=) c.*985C>T (n.*985C>T) c.410-24988C>T (n.410-24988C>T) c.1545C>T (p.His515=) c.510C>T (p.His170=) c.1254C>T (p.His418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.1917275G>C | CA345702018 | MYT1L | c.1542C>G (p.His514Gln) c.1037C>G c.1043C>G c.1548C>G (p.His516Gln) c.570C>G (p.His190Gln) c.65C>G c.506-24988C>G (n.506-24988C>G) c.291C>G (p.His97Gln) c.1485C>G (p.His495Gln) c.343C>G c.763C>G c.742C>G c.1477+5017C>G (n.1477+5017C>G) c.63C>G (p.His21Gln) c.*985C>G (n.*985C>G) c.410-24988C>G (n.410-24988C>G) c.1545C>G (p.His515Gln) c.510C>G (p.His170Gln) c.1254C>G (p.His418Gln) | |
2 | g.1917275G= | CA1233801027 | MYT1L | c.1542C= (p.His514=) c.1037C= c.1043C= c.1548C= (p.His516=) c.570C= (p.His190=) c.65C= c.506-24988C= (n.506-24988C=) c.291C= (p.His97=) c.1485C= (p.His495=) c.343C= c.763C= c.742C= c.1477+5017C= (n.1477+5017C=) c.63C= (p.His21=) c.*985C= (n.*985C=) c.410-24988C= (n.410-24988C=) c.1545C= (p.His515=) c.510C= (p.His170=) c.1254C= (p.His418=) | |
2 | g.1917275G>T | CA345702019 | MYT1L | c.1542C>A (p.His514Gln) c.1037C>A c.1043C>A c.1548C>A (p.His516Gln) c.570C>A (p.His190Gln) c.65C>A c.506-24988C>A (n.506-24988C>A) c.291C>A (p.His97Gln) c.1485C>A (p.His495Gln) c.343C>A c.763C>A c.742C>A c.1477+5017C>A (n.1477+5017C>A) c.63C>A (p.His21Gln) c.*985C>A (n.*985C>A) c.410-24988C>A (n.410-24988C>A) c.1545C>A (p.His515Gln) c.510C>A (p.His170Gln) c.1254C>A (p.His418Gln) | |
2 | g.1917276T>A | CA345702020 | MYT1L | c.1541A>T (p.His514Leu) c.1036A>T c.1042A>T c.1547A>T (p.His516Leu) c.569A>T (p.His190Leu) c.64A>T c.506-24989A>T (n.506-24989A>T) c.290A>T (p.His97Leu) c.1484A>T (p.His495Leu) c.342A>T c.762A>T c.741A>T c.1477+5016A>T (n.1477+5016A>T) c.62A>T (p.His21Leu) c.*984A>T (n.*984A>T) c.410-24989A>T (n.410-24989A>T) c.1544A>T (p.His515Leu) c.509A>T (p.His170Leu) c.1253A>T (p.His418Leu) | |
2 | g.1917276T>C | CA345702022 | MYT1L | c.1541A>G (p.His514Arg) c.1036A>G c.1042A>G c.1547A>G (p.His516Arg) c.569A>G (p.His190Arg) c.64A>G c.506-24989A>G (n.506-24989A>G) c.290A>G (p.His97Arg) c.1484A>G (p.His495Arg) c.342A>G c.762A>G c.741A>G c.1477+5016A>G (n.1477+5016A>G) c.62A>G (p.His21Arg) c.*984A>G (n.*984A>G) c.410-24989A>G (n.410-24989A>G) c.1544A>G (p.His515Arg) c.509A>G (p.His170Arg) c.1253A>G (p.His418Arg) | |
2 | g.1917276T>G | CA345702021 | MYT1L | c.1541A>C (p.His514Pro) c.1036A>C c.1042A>C c.1547A>C (p.His516Pro) c.569A>C (p.His190Pro) c.64A>C c.506-24989A>C (n.506-24989A>C) c.290A>C (p.His97Pro) c.1484A>C (p.His495Pro) c.342A>C c.762A>C c.741A>C c.1477+5016A>C (n.1477+5016A>C) c.62A>C (p.His21Pro) c.*984A>C (n.*984A>C) c.410-24989A>C (n.410-24989A>C) c.1544A>C (p.His515Pro) c.509A>C (p.His170Pro) c.1253A>C (p.His418Pro) | |
2 | g.1917277G>A | CA345702023 | MYT1L | c.1540C>T (p.His514Tyr) c.1035C>T c.1041C>T c.1546C>T (p.His516Tyr) c.568C>T (p.His190Tyr) c.63C>T c.506-24990C>T (n.506-24990C>T) c.289C>T (p.His97Tyr) c.1483C>T (p.His495Tyr) c.341C>T c.761C>T c.740C>T c.1477+5015C>T (n.1477+5015C>T) c.61C>T (p.His21Tyr) c.*983C>T (n.*983C>T) c.410-24990C>T (n.410-24990C>T) c.1543C>T (p.His515Tyr) c.508C>T (p.His170Tyr) c.1252C>T (p.His418Tyr) | |
2 | g.1917277G>C | CA345702024 | MYT1L | c.1540C>G (p.His514Asp) c.1035C>G c.1041C>G c.1546C>G (p.His516Asp) c.568C>G (p.His190Asp) c.63C>G c.506-24990C>G (n.506-24990C>G) c.289C>G (p.His97Asp) c.1483C>G (p.His495Asp) c.341C>G c.761C>G c.740C>G c.1477+5015C>G (n.1477+5015C>G) c.61C>G (p.His21Asp) c.*983C>G (n.*983C>G) c.410-24990C>G (n.410-24990C>G) c.1543C>G (p.His515Asp) c.508C>G (p.His170Asp) c.1252C>G (p.His418Asp) | |
2 | g.1917277G>T | CA345702025 | MYT1L | c.1540C>A (p.His514Asn) c.1035C>A c.1041C>A c.1546C>A (p.His516Asn) c.568C>A (p.His190Asn) c.63C>A c.506-24990C>A (n.506-24990C>A) c.289C>A (p.His97Asn) c.1483C>A (p.His495Asn) c.341C>A c.761C>A c.740C>A c.1477+5015C>A (n.1477+5015C>A) c.61C>A (p.His21Asn) c.*983C>A (n.*983C>A) c.410-24990C>A (n.410-24990C>A) c.1543C>A (p.His515Asn) c.508C>A (p.His170Asn) c.1252C>A (p.His418Asn) | |
2 | g.1917278G>A | CA424516942 | MYT1L | c.1539C>T (p.Gly513=) c.1034C>T c.1040C>T c.1545C>T (p.Gly515=) c.567C>T (p.Gly189=) c.62C>T c.506-24991C>T (n.506-24991C>T) c.288C>T (p.Gly96=) c.1482C>T (p.Gly494=) c.340C>T c.760C>T c.739C>T c.1477+5014C>T (n.1477+5014C>T) c.60C>T (p.Gly20=) c.*982C>T (n.*982C>T) c.410-24991C>T (n.410-24991C>T) c.1542C>T (p.Gly514=) c.507C>T (p.Gly169=) c.1251C>T (p.Gly417=) | |
2 | g.1917278G>C | CA424516941 | MYT1L | c.1539C>G (p.Gly513=) c.1034C>G c.1040C>G c.1545C>G (p.Gly515=) c.567C>G (p.Gly189=) c.62C>G c.506-24991C>G (n.506-24991C>G) c.288C>G (p.Gly96=) c.1482C>G (p.Gly494=) c.340C>G c.760C>G c.739C>G c.1477+5014C>G (n.1477+5014C>G) c.60C>G (p.Gly20=) c.*982C>G (n.*982C>G) c.410-24991C>G (n.410-24991C>G) c.1542C>G (p.Gly514=) c.507C>G (p.Gly169=) c.1251C>G (p.Gly417=) | |
2 | g.1917278G>T | CA424516943 | MYT1L | c.1539C>A (p.Gly513=) c.1034C>A c.1040C>A c.1545C>A (p.Gly515=) c.567C>A (p.Gly189=) c.62C>A c.506-24991C>A (n.506-24991C>A) c.288C>A (p.Gly96=) c.1482C>A (p.Gly494=) c.340C>A c.760C>A c.739C>A c.1477+5014C>A (n.1477+5014C>A) c.60C>A (p.Gly20=) c.*982C>A (n.*982C>A) c.410-24991C>A (n.410-24991C>A) c.1542C>A (p.Gly514=) c.507C>A (p.Gly169=) c.1251C>A (p.Gly417=) | |
2 | g.1917279C>A | CA345702026 | MYT1L | c.1538G>T (p.Gly513Val) c.1033G>T c.1039G>T c.1544G>T (p.Gly515Val) c.566G>T (p.Gly189Val) c.61G>T c.506-24992G>T (n.506-24992G>T) c.287G>T (p.Gly96Val) c.1481G>T (p.Gly494Val) c.339G>T c.759G>T c.738G>T c.1477+5013G>T (n.1477+5013G>T) c.59G>T (p.Gly20Val) c.*981G>T (n.*981G>T) c.410-24992G>T (n.410-24992G>T) c.1541G>T (p.Gly514Val) c.506G>T (p.Gly169Val) c.1250G>T (p.Gly417Val) | dbSNP |
2 | g.1917279C>G | CA345702027 | MYT1L | c.1538G>C (p.Gly513Ala) c.1033G>C c.1039G>C c.1544G>C (p.Gly515Ala) c.566G>C (p.Gly189Ala) c.61G>C c.506-24992G>C (n.506-24992G>C) c.287G>C (p.Gly96Ala) c.1481G>C (p.Gly494Ala) c.339G>C c.759G>C c.738G>C c.1477+5013G>C (n.1477+5013G>C) c.59G>C (p.Gly20Ala) c.*981G>C (n.*981G>C) c.410-24992G>C (n.410-24992G>C) c.1541G>C (p.Gly514Ala) c.506G>C (p.Gly169Ala) c.1250G>C (p.Gly417Ala) | |
2 | g.1917279C>T | CA345702028 | MYT1L | c.1538G>A (p.Gly513Asp) c.1033G>A c.1039G>A c.1544G>A (p.Gly515Asp) c.566G>A (p.Gly189Asp) c.61G>A c.506-24992G>A (n.506-24992G>A) c.287G>A (p.Gly96Asp) c.1481G>A (p.Gly494Asp) c.339G>A c.759G>A c.738G>A c.1477+5013G>A (n.1477+5013G>A) c.59G>A (p.Gly20Asp) c.*981G>A (n.*981G>A) c.410-24992G>A (n.410-24992G>A) c.1541G>A (p.Gly514Asp) c.506G>A (p.Gly169Asp) c.1250G>A (p.Gly417Asp) | |
2 | g.1917280C>A | CA345702029 | MYT1L | c.1537G>T (p.Gly513Cys) c.1032G>T c.1038G>T c.1543G>T (p.Gly515Cys) c.565G>T (p.Gly189Cys) c.60G>T c.506-24993G>T (n.506-24993G>T) c.286G>T (p.Gly96Cys) c.1480G>T (p.Gly494Cys) c.338G>T c.758G>T c.737G>T c.1477+5012G>T (n.1477+5012G>T) c.58G>T (p.Gly20Cys) c.*980G>T (n.*980G>T) c.410-24993G>T (n.410-24993G>T) c.1540G>T (p.Gly514Cys) c.505G>T (p.Gly169Cys) c.1249G>T (p.Gly417Cys) | |
2 | g.1917280C>G | CA345702030 | MYT1L | c.1537G>C (p.Gly513Arg) c.1032G>C c.1038G>C c.1543G>C (p.Gly515Arg) c.565G>C (p.Gly189Arg) c.60G>C c.506-24993G>C (n.506-24993G>C) c.286G>C (p.Gly96Arg) c.1480G>C (p.Gly494Arg) c.338G>C c.758G>C c.737G>C c.1477+5012G>C (n.1477+5012G>C) c.58G>C (p.Gly20Arg) c.*980G>C (n.*980G>C) c.410-24993G>C (n.410-24993G>C) c.1540G>C (p.Gly514Arg) c.505G>C (p.Gly169Arg) c.1249G>C (p.Gly417Arg) | |
2 | g.1917280C>T | CA345702031 | MYT1L | c.1537G>A (p.Gly513Ser) c.1032G>A c.1038G>A c.1543G>A (p.Gly515Ser) c.565G>A (p.Gly189Ser) c.60G>A c.506-24993G>A (n.506-24993G>A) c.286G>A (p.Gly96Ser) c.1480G>A (p.Gly494Ser) c.338G>A c.758G>A c.737G>A c.1477+5012G>A (n.1477+5012G>A) c.58G>A (p.Gly20Ser) c.*980G>A (n.*980G>A) c.410-24993G>A (n.410-24993G>A) c.1540G>A (p.Gly514Ser) c.505G>A (p.Gly169Ser) c.1249G>A (p.Gly417Ser) | ClinVar gnomAD v4 |
2 | g.1917281G>A | CA1514217 | MYT1L | c.1536C>T (p.Thr512=) c.1031C>T c.1037C>T c.1542C>T (p.Thr514=) c.564C>T (p.Thr188=) c.59C>T c.506-24994C>T (n.506-24994C>T) c.285C>T (p.Thr95=) c.1479C>T (p.Thr493=) c.337C>T c.757C>T c.736C>T c.1477+5011C>T (n.1477+5011C>T) c.57C>T (p.Thr19=) c.*979C>T (n.*979C>T) c.410-24994C>T (n.410-24994C>T) c.1539C>T (p.Thr513=) c.504C>T (p.Thr168=) c.1248C>T (p.Thr416=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917281G>C | CA424516944 | MYT1L | c.1536C>G (p.Thr512=) c.1031C>G c.1037C>G c.1542C>G (p.Thr514=) c.564C>G (p.Thr188=) c.59C>G c.506-24994C>G (n.506-24994C>G) c.285C>G (p.Thr95=) c.1479C>G (p.Thr493=) c.337C>G c.757C>G c.736C>G c.1477+5011C>G (n.1477+5011C>G) c.57C>G (p.Thr19=) c.*979C>G (n.*979C>G) c.410-24994C>G (n.410-24994C>G) c.1539C>G (p.Thr513=) c.504C>G (p.Thr168=) c.1248C>G (p.Thr416=) | |
2 | g.1917281G= | CA1233801028 | MYT1L | c.1536C= (p.Thr512=) c.1031C= c.1037C= c.1542C= (p.Thr514=) c.564C= (p.Thr188=) c.59C= c.506-24994C= (n.506-24994C=) c.285C= (p.Thr95=) c.1479C= (p.Thr493=) c.337C= c.757C= c.736C= c.1477+5011C= (n.1477+5011C=) c.57C= (p.Thr19=) c.*979C= (n.*979C=) c.410-24994C= (n.410-24994C=) c.1539C= (p.Thr513=) c.504C= (p.Thr168=) c.1248C= (p.Thr416=) | |
2 | g.1917281G>T | CA424516945 | MYT1L | c.1536C>A (p.Thr512=) c.1031C>A c.1037C>A c.1542C>A (p.Thr514=) c.564C>A (p.Thr188=) c.59C>A c.506-24994C>A (n.506-24994C>A) c.285C>A (p.Thr95=) c.1479C>A (p.Thr493=) c.337C>A c.757C>A c.736C>A c.1477+5011C>A (n.1477+5011C>A) c.57C>A (p.Thr19=) c.*979C>A (n.*979C>A) c.410-24994C>A (n.410-24994C>A) c.1539C>A (p.Thr513=) c.504C>A (p.Thr168=) c.1248C>A (p.Thr416=) | |
2 | g.1917282G>A | CA345702032 | MYT1L | c.1535C>T (p.Thr512Ile) c.1030C>T c.1036C>T c.1541C>T (p.Thr514Ile) c.563C>T (p.Thr188Ile) c.58C>T c.506-24995C>T (n.506-24995C>T) c.284C>T (p.Thr95Ile) c.1478C>T (p.Thr493Ile) c.336C>T c.756C>T c.735C>T c.1477+5010C>T (n.1477+5010C>T) c.56C>T (p.Thr19Ile) c.*978C>T (n.*978C>T) c.410-24995C>T (n.410-24995C>T) c.1538C>T (p.Thr513Ile) c.503C>T (p.Thr168Ile) c.1247C>T (p.Thr416Ile) | |
2 | g.1917282G>C | CA345702033 | MYT1L | c.1535C>G (p.Thr512Ser) c.1030C>G c.1036C>G c.1541C>G (p.Thr514Ser) c.563C>G (p.Thr188Ser) c.58C>G c.506-24995C>G (n.506-24995C>G) c.284C>G (p.Thr95Ser) c.1478C>G (p.Thr493Ser) c.336C>G c.756C>G c.735C>G c.1477+5010C>G (n.1477+5010C>G) c.56C>G (p.Thr19Ser) c.*978C>G (n.*978C>G) c.410-24995C>G (n.410-24995C>G) c.1538C>G (p.Thr513Ser) c.503C>G (p.Thr168Ser) c.1247C>G (p.Thr416Ser) | |
2 | g.1917282G>T | CA345702034 | MYT1L | c.1535C>A (p.Thr512Asn) c.1030C>A c.1036C>A c.1541C>A (p.Thr514Asn) c.563C>A (p.Thr188Asn) c.58C>A c.506-24995C>A (n.506-24995C>A) c.284C>A (p.Thr95Asn) c.1478C>A (p.Thr493Asn) c.336C>A c.756C>A c.735C>A c.1477+5010C>A (n.1477+5010C>A) c.56C>A (p.Thr19Asn) c.*978C>A (n.*978C>A) c.410-24995C>A (n.410-24995C>A) c.1538C>A (p.Thr513Asn) c.503C>A (p.Thr168Asn) c.1247C>A (p.Thr416Asn) | |
2 | g.1917283T>A | CA345702035 | MYT1L | c.1534A>T (p.Thr512Ser) c.1029A>T c.1035A>T c.1540A>T (p.Thr514Ser) c.562A>T (p.Thr188Ser) c.57A>T c.506-24996A>T (n.506-24996A>T) c.283A>T (p.Thr95Ser) c.1477A>T (p.Thr493Ser) c.335A>T c.755A>T c.734A>T c.1477+5009A>T (n.1477+5009A>T) c.55A>T (p.Thr19Ser) c.*977A>T (n.*977A>T) c.410-24996A>T (n.410-24996A>T) c.1537A>T (p.Thr513Ser) c.502A>T (p.Thr168Ser) c.1246A>T (p.Thr416Ser) | |
2 | g.1917283T>C | CA345702037 | MYT1L | c.1534A>G (p.Thr512Ala) c.1029A>G c.1035A>G c.1540A>G (p.Thr514Ala) c.562A>G (p.Thr188Ala) c.57A>G c.506-24996A>G (n.506-24996A>G) c.283A>G (p.Thr95Ala) c.1477A>G (p.Thr493Ala) c.335A>G c.755A>G c.734A>G c.1477+5009A>G (n.1477+5009A>G) c.55A>G (p.Thr19Ala) c.*977A>G (n.*977A>G) c.410-24996A>G (n.410-24996A>G) c.1537A>G (p.Thr513Ala) c.502A>G (p.Thr168Ala) c.1246A>G (p.Thr416Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.1917283T>G | CA345702036 | MYT1L | c.1534A>C (p.Thr512Pro) c.1029A>C c.1035A>C c.1540A>C (p.Thr514Pro) c.562A>C (p.Thr188Pro) c.57A>C c.506-24996A>C (n.506-24996A>C) c.283A>C (p.Thr95Pro) c.1477A>C (p.Thr493Pro) c.335A>C c.755A>C c.734A>C c.1477+5009A>C (n.1477+5009A>C) c.55A>C (p.Thr19Pro) c.*977A>C (n.*977A>C) c.410-24996A>C (n.410-24996A>C) c.1537A>C (p.Thr513Pro) c.502A>C (p.Thr168Pro) c.1246A>C (p.Thr416Pro) | dbSNP |
2 | g.1917283T= | CA1233801029 | MYT1L | c.1534A= (p.Thr512=) c.1029A= c.1035A= c.1540A= (p.Thr514=) c.562A= (p.Thr188=) c.57A= c.506-24996A= (n.506-24996A=) c.283A= (p.Thr95=) c.1477A= (p.Thr493=) c.335A= c.755A= c.734A= c.1477+5009A= (n.1477+5009A=) c.55A= (p.Thr19=) c.*977A= (n.*977A=) c.410-24996A= (n.410-24996A=) c.1537A= (p.Thr513=) c.502A= (p.Thr168=) c.1246A= (p.Thr416=) | |
2 | g.1917284T>A | CA424516947 | MYT1L | c.1533A>T (p.Gly511=) c.1028A>T c.1034A>T c.1539A>T (p.Gly513=) c.561A>T (p.Gly187=) c.56A>T c.506-24997A>T (n.506-24997A>T) c.282A>T (p.Gly94=) c.1476A>T (p.Gly492=) c.334A>T c.754A>T c.733A>T c.1477+5008A>T (n.1477+5008A>T) c.54A>T (p.Gly18=) c.*976A>T (n.*976A>T) c.410-24997A>T (n.410-24997A>T) c.1536A>T (p.Gly512=) c.501A>T (p.Gly167=) c.1245A>T (p.Gly415=) | |
2 | g.1917284T>C | CA424516948 | MYT1L | c.1533A>G (p.Gly511=) c.1028A>G c.1034A>G c.1539A>G (p.Gly513=) c.561A>G (p.Gly187=) c.56A>G c.506-24997A>G (n.506-24997A>G) c.282A>G (p.Gly94=) c.1476A>G (p.Gly492=) c.334A>G c.754A>G c.733A>G c.1477+5008A>G (n.1477+5008A>G) c.54A>G (p.Gly18=) c.*976A>G (n.*976A>G) c.410-24997A>G (n.410-24997A>G) c.1536A>G (p.Gly512=) c.501A>G (p.Gly167=) c.1245A>G (p.Gly415=) | gnomAD v4 |
2 | g.1917284T>G | CA424516946 | MYT1L | c.1533A>C (p.Gly511=) c.1028A>C c.1034A>C c.1539A>C (p.Gly513=) c.561A>C (p.Gly187=) c.56A>C c.506-24997A>C (n.506-24997A>C) c.282A>C (p.Gly94=) c.1476A>C (p.Gly492=) c.334A>C c.754A>C c.733A>C c.1477+5008A>C (n.1477+5008A>C) c.54A>C (p.Gly18=) c.*976A>C (n.*976A>C) c.410-24997A>C (n.410-24997A>C) c.1536A>C (p.Gly512=) c.501A>C (p.Gly167=) c.1245A>C (p.Gly415=) | |
2 | g.1917285C>A | CA345702038 | MYT1L | c.1532G>T (p.Gly511Val) c.1027G>T c.1033G>T c.1538G>T (p.Gly513Val) c.560G>T (p.Gly187Val) c.55G>T c.506-24998G>T (n.506-24998G>T) c.281G>T (p.Gly94Val) c.1475G>T (p.Gly492Val) c.333G>T c.753G>T c.732G>T c.1477+5007G>T (n.1477+5007G>T) c.53G>T (p.Gly18Val) c.*975G>T (n.*975G>T) c.410-24998G>T (n.410-24998G>T) c.1535G>T (p.Gly512Val) c.500G>T (p.Gly167Val) c.1244G>T (p.Gly415Val) | ClinVar dbSNP |
2 | g.1917285C>G | CA345702039 | MYT1L | c.1532G>C (p.Gly511Ala) c.1027G>C c.1033G>C c.1538G>C (p.Gly513Ala) c.560G>C (p.Gly187Ala) c.55G>C c.506-24998G>C (n.506-24998G>C) c.281G>C (p.Gly94Ala) c.1475G>C (p.Gly492Ala) c.333G>C c.753G>C c.732G>C c.1477+5007G>C (n.1477+5007G>C) c.53G>C (p.Gly18Ala) c.*975G>C (n.*975G>C) c.410-24998G>C (n.410-24998G>C) c.1535G>C (p.Gly512Ala) c.500G>C (p.Gly167Ala) c.1244G>C (p.Gly415Ala) | |
2 | g.1917285C>T | CA345702040 | MYT1L | c.1532G>A (p.Gly511Glu) c.1027G>A c.1033G>A c.1538G>A (p.Gly513Glu) c.560G>A (p.Gly187Glu) c.55G>A c.506-24998G>A (n.506-24998G>A) c.281G>A (p.Gly94Glu) c.1475G>A (p.Gly492Glu) c.333G>A c.753G>A c.732G>A c.1477+5007G>A (n.1477+5007G>A) c.53G>A (p.Gly18Glu) c.*975G>A (n.*975G>A) c.410-24998G>A (n.410-24998G>A) c.1535G>A (p.Gly512Glu) c.500G>A (p.Gly167Glu) c.1244G>A (p.Gly415Glu) | |
2 | g.1917286C>A | CA345702041 | MYT1L | c.1531G>T (p.Gly511Ter) c.1026G>T c.1032G>T c.1537G>T (p.Gly513Ter) c.559G>T (p.Gly187Ter) c.54G>T c.506-24999G>T (n.506-24999G>T) c.280G>T (p.Gly94Ter) c.1474G>T (p.Gly492Ter) c.332G>T c.752G>T c.731G>T c.1477+5006G>T (n.1477+5006G>T) c.52G>T (p.Gly18Ter) c.*974G>T (n.*974G>T) c.410-24999G>T (n.410-24999G>T) c.1534G>T (p.Gly512Ter) c.499G>T (p.Gly167Ter) c.1243G>T (p.Gly415Ter) | |
2 | g.1917286C>G | CA345702042 | MYT1L | c.1531G>C (p.Gly511Arg) c.1026G>C c.1032G>C c.1537G>C (p.Gly513Arg) c.559G>C (p.Gly187Arg) c.54G>C c.506-24999G>C (n.506-24999G>C) c.280G>C (p.Gly94Arg) c.1474G>C (p.Gly492Arg) c.332G>C c.752G>C c.731G>C c.1477+5006G>C (n.1477+5006G>C) c.52G>C (p.Gly18Arg) c.*974G>C (n.*974G>C) c.410-24999G>C (n.410-24999G>C) c.1534G>C (p.Gly512Arg) c.499G>C (p.Gly167Arg) c.1243G>C (p.Gly415Arg) | |
2 | g.1917286C>T | CA345702043 | MYT1L | c.1531G>A (p.Gly511Arg) c.1026G>A c.1032G>A c.1537G>A (p.Gly513Arg) c.559G>A (p.Gly187Arg) c.54G>A c.506-24999G>A (n.506-24999G>A) c.280G>A (p.Gly94Arg) c.1474G>A (p.Gly492Arg) c.332G>A c.752G>A c.731G>A c.1477+5006G>A (n.1477+5006G>A) c.52G>A (p.Gly18Arg) c.*974G>A (n.*974G>A) c.410-24999G>A (n.410-24999G>A) c.1534G>A (p.Gly512Arg) c.499G>A (p.Gly167Arg) c.1243G>A (p.Gly415Arg) | |
2 | g.1917287A= | CA1233801030 | MYT1L | c.1530T= (p.Asp510=) c.1025T= c.1031T= c.1536T= (p.Asp512=) c.558T= (p.Asp186=) c.53T= c.506-25000T= (n.506-25000T=) c.279T= (p.Asp93=) c.1473T= (p.Asp491=) c.331T= c.751T= c.730T= c.1477+5005T= (n.1477+5005T=) c.51T= (p.Asp17=) c.*973T= (n.*973T=) c.410-25000T= (n.410-25000T=) c.1533T= (p.Asp511=) c.498T= (p.Asp166=) c.1242T= (p.Asp414=) | |
2 | g.1917287A>C | CA345702044 | MYT1L | c.1530T>G (p.Asp510Glu) c.1025T>G c.1031T>G c.1536T>G (p.Asp512Glu) c.558T>G (p.Asp186Glu) c.53T>G c.506-25000T>G (n.506-25000T>G) c.279T>G (p.Asp93Glu) c.1473T>G (p.Asp491Glu) c.331T>G c.751T>G c.730T>G c.1477+5005T>G (n.1477+5005T>G) c.51T>G (p.Asp17Glu) c.*973T>G (n.*973T>G) c.410-25000T>G (n.410-25000T>G) c.1533T>G (p.Asp511Glu) c.498T>G (p.Asp166Glu) c.1242T>G (p.Asp414Glu) | |
2 | g.1917287A>G | CA424516949 | MYT1L | c.1530T>C (p.Asp510=) c.1025T>C c.1031T>C c.1536T>C (p.Asp512=) c.558T>C (p.Asp186=) c.53T>C c.506-25000T>C (n.506-25000T>C) c.279T>C (p.Asp93=) c.1473T>C (p.Asp491=) c.331T>C c.751T>C c.730T>C c.1477+5005T>C (n.1477+5005T>C) c.51T>C (p.Asp17=) c.*973T>C (n.*973T>C) c.410-25000T>C (n.410-25000T>C) c.1533T>C (p.Asp511=) c.498T>C (p.Asp166=) c.1242T>C (p.Asp414=) | dbSNP |
2 | g.1917287A>T | CA345702045 | MYT1L | c.1530T>A (p.Asp510Glu) c.1025T>A c.1031T>A c.1536T>A (p.Asp512Glu) c.558T>A (p.Asp186Glu) c.53T>A c.506-25000T>A (n.506-25000T>A) c.279T>A (p.Asp93Glu) c.1473T>A (p.Asp491Glu) c.331T>A c.751T>A c.730T>A c.1477+5005T>A (n.1477+5005T>A) c.51T>A (p.Asp17Glu) c.*973T>A (n.*973T>A) c.410-25000T>A (n.410-25000T>A) c.1533T>A (p.Asp511Glu) c.498T>A (p.Asp166Glu) c.1242T>A (p.Asp414Glu) | |
2 | g.1917288T>A | CA345702046 | MYT1L | c.1529A>T (p.Asp510Val) c.1024A>T c.1030A>T c.1535A>T (p.Asp512Val) c.557A>T (p.Asp186Val) c.52A>T c.506-25001A>T (n.506-25001A>T) c.278A>T (p.Asp93Val) c.1472A>T (p.Asp491Val) c.330A>T c.750A>T c.729A>T c.1477+5004A>T (n.1477+5004A>T) c.50A>T (p.Asp17Val) c.*972A>T (n.*972A>T) c.410-25001A>T (n.410-25001A>T) c.1532A>T (p.Asp511Val) c.497A>T (p.Asp166Val) c.1241A>T (p.Asp414Val) | |
2 | g.1917288T>C | CA345702047 | MYT1L | c.1529A>G (p.Asp510Gly) c.1024A>G c.1030A>G c.1535A>G (p.Asp512Gly) c.557A>G (p.Asp186Gly) c.52A>G c.506-25001A>G (n.506-25001A>G) c.278A>G (p.Asp93Gly) c.1472A>G (p.Asp491Gly) c.330A>G c.750A>G c.729A>G c.1477+5004A>G (n.1477+5004A>G) c.50A>G (p.Asp17Gly) c.*972A>G (n.*972A>G) c.410-25001A>G (n.410-25001A>G) c.1532A>G (p.Asp511Gly) c.497A>G (p.Asp166Gly) c.1241A>G (p.Asp414Gly) | |
2 | g.1917288T>G | CA345702048 | MYT1L | c.1529A>C (p.Asp510Ala) c.1024A>C c.1030A>C c.1535A>C (p.Asp512Ala) c.557A>C (p.Asp186Ala) c.52A>C c.506-25001A>C (n.506-25001A>C) c.278A>C (p.Asp93Ala) c.1472A>C (p.Asp491Ala) c.330A>C c.750A>C c.729A>C c.1477+5004A>C (n.1477+5004A>C) c.50A>C (p.Asp17Ala) c.*972A>C (n.*972A>C) c.410-25001A>C (n.410-25001A>C) c.1532A>C (p.Asp511Ala) c.497A>C (p.Asp166Ala) c.1241A>C (p.Asp414Ala) | |
2 | g.1917289C>A | CA345702050 | MYT1L | c.1528G>T (p.Asp510Tyr) c.1023G>T c.1029G>T c.1534G>T (p.Asp512Tyr) c.556G>T (p.Asp186Tyr) c.51G>T c.506-25002G>T (n.506-25002G>T) c.277G>T (p.Asp93Tyr) c.1471G>T (p.Asp491Tyr) c.329G>T c.749G>T c.728G>T c.1477+5003G>T (n.1477+5003G>T) c.49G>T (p.Asp17Tyr) c.*971G>T (n.*971G>T) c.410-25002G>T (n.410-25002G>T) c.1531G>T (p.Asp511Tyr) c.496G>T (p.Asp166Tyr) c.1240G>T (p.Asp414Tyr) | |
2 | g.1917289C>G | CA345702051 | MYT1L | c.1528G>C (p.Asp510His) c.1023G>C c.1029G>C c.1534G>C (p.Asp512His) c.556G>C (p.Asp186His) c.51G>C c.506-25002G>C (n.506-25002G>C) c.277G>C (p.Asp93His) c.1471G>C (p.Asp491His) c.329G>C c.749G>C c.728G>C c.1477+5003G>C (n.1477+5003G>C) c.49G>C (p.Asp17His) c.*971G>C (n.*971G>C) c.410-25002G>C (n.410-25002G>C) c.1531G>C (p.Asp511His) c.496G>C (p.Asp166His) c.1240G>C (p.Asp414His) | |
2 | g.1917289C>T | CA345702049 | MYT1L | c.1528G>A (p.Asp510Asn) c.1023G>A c.1029G>A c.1534G>A (p.Asp512Asn) c.556G>A (p.Asp186Asn) c.51G>A c.506-25002G>A (n.506-25002G>A) c.277G>A (p.Asp93Asn) c.1471G>A (p.Asp491Asn) c.329G>A c.749G>A c.728G>A c.1477+5003G>A (n.1477+5003G>A) c.49G>A (p.Asp17Asn) c.*971G>A (n.*971G>A) c.410-25002G>A (n.410-25002G>A) c.1531G>A (p.Asp511Asn) c.496G>A (p.Asp166Asn) c.1240G>A (p.Asp414Asn) | |
2 | g.1917289_1917290delinsCA | CA1233801031 | MYT1L | c.1527_1528delinsTG (p.Cys509=) c.1022_1023delinsTG c.1028_1029delinsTG c.1533_1534delinsTG (p.Cys511=) c.555_556delinsTG (p.Cys185=) c.50_51delinsTG c.506-25003_506-25002delinsTG (n.506-25003_506-25002delinsTG) c.276_277delinsTG (p.Cys92=) c.1470_1471delinsTG (p.Cys490=) c.328_329delinsTG c.748_749delinsTG c.727_728delinsTG c.1477+5002_1477+5003delinsTG (n.1477+5002_1477+5003delinsTG) c.48_49delinsTG (p.Cys16=) c.*970_*971delinsTG (n.*970_*971delinsTG) c.410-25003_410-25002delinsTG (n.410-25003_410-25002delinsTG) c.1530_1531delinsTG (p.Cys510=) c.495_496delinsTG (p.Cys165=) c.1239_1240delinsTG (p.Cys413=) | |
2 | g.1917290del | CA1139656746 | MYT1L | c.1527del (p.Cys509TrpfsTer7) c.1022del c.1028del c.1533del (p.Cys511TrpfsTer7) c.555del (p.Cys185TrpfsTer7) c.50del c.506-25003del (n.506-25003del) c.276del (p.Cys92TrpfsTer7) c.1470del (p.Cys490TrpfsTer7) c.328del c.748del c.727del c.1477+5002del (n.1477+5002del) c.48del (p.Cys16TrpfsTer7) c.*970del (n.*970del) c.410-25003del (n.410-25003del) c.1530del (p.Cys510TrpfsTer7) c.495del (p.Cys165TrpfsTer7) c.1239del (p.Cys413TrpfsTer7) | ClinVar dbSNP |
2 | g.1917290A>C | CA345702053 | MYT1L | c.1527T>G (p.Cys509Trp) c.1022T>G c.1028T>G c.1533T>G (p.Cys511Trp) c.555T>G (p.Cys185Trp) c.50T>G c.506-25003T>G (n.506-25003T>G) c.276T>G (p.Cys92Trp) c.1470T>G (p.Cys490Trp) c.328T>G c.748T>G c.727T>G c.1477+5002T>G (n.1477+5002T>G) c.48T>G (p.Cys16Trp) c.*970T>G (n.*970T>G) c.410-25003T>G (n.410-25003T>G) c.1530T>G (p.Cys510Trp) c.495T>G (p.Cys165Trp) c.1239T>G (p.Cys413Trp) | |
2 | g.1917290A>G | CA424516951 | MYT1L | c.1527T>C (p.Cys509=) c.1022T>C c.1028T>C c.1533T>C (p.Cys511=) c.555T>C (p.Cys185=) c.50T>C c.506-25003T>C (n.506-25003T>C) c.276T>C (p.Cys92=) c.1470T>C (p.Cys490=) c.328T>C c.748T>C c.727T>C c.1477+5002T>C (n.1477+5002T>C) c.48T>C (p.Cys16=) c.*970T>C (n.*970T>C) c.410-25003T>C (n.410-25003T>C) c.1530T>C (p.Cys510=) c.495T>C (p.Cys165=) c.1239T>C (p.Cys413=) | |
2 | g.1917290A>T | CA345702052 | MYT1L | c.1527T>A (p.Cys509Ter) c.1022T>A c.1028T>A c.1533T>A (p.Cys511Ter) c.555T>A (p.Cys185Ter) c.50T>A c.506-25003T>A (n.506-25003T>A) c.276T>A (p.Cys92Ter) c.1470T>A (p.Cys490Ter) c.328T>A c.748T>A c.727T>A c.1477+5002T>A (n.1477+5002T>A) c.48T>A (p.Cys16Ter) c.*970T>A (n.*970T>A) c.410-25003T>A (n.410-25003T>A) c.1530T>A (p.Cys510Ter) c.495T>A (p.Cys165Ter) c.1239T>A (p.Cys413Ter) | |
2 | g.1917291C>A | CA345702054 | MYT1L | c.1526G>T (p.Cys509Phe) c.1021G>T c.1027G>T c.1532G>T (p.Cys511Phe) c.554G>T (p.Cys185Phe) c.49G>T c.506-25004G>T (n.506-25004G>T) c.275G>T (p.Cys92Phe) c.1469G>T (p.Cys490Phe) c.327G>T c.747G>T c.726G>T c.1477+5001G>T (n.1477+5001G>T) c.47G>T (p.Cys16Phe) c.*969G>T (n.*969G>T) c.410-25004G>T (n.410-25004G>T) c.1529G>T (p.Cys510Phe) c.494G>T (p.Cys165Phe) c.1238G>T (p.Cys413Phe) | COSMIC COSMIC |
2 | g.1917291C>G | CA345702055 | MYT1L | c.1526G>C (p.Cys509Ser) c.1021G>C c.1027G>C c.1532G>C (p.Cys511Ser) c.554G>C (p.Cys185Ser) c.49G>C c.506-25004G>C (n.506-25004G>C) c.275G>C (p.Cys92Ser) c.1469G>C (p.Cys490Ser) c.327G>C c.747G>C c.726G>C c.1477+5001G>C (n.1477+5001G>C) c.47G>C (p.Cys16Ser) c.*969G>C (n.*969G>C) c.410-25004G>C (n.410-25004G>C) c.1529G>C (p.Cys510Ser) c.494G>C (p.Cys165Ser) c.1238G>C (p.Cys413Ser) | |
2 | g.1917291C>T | CA345702056 | MYT1L | c.1526G>A (p.Cys509Tyr) c.1021G>A c.1027G>A c.1532G>A (p.Cys511Tyr) c.554G>A (p.Cys185Tyr) c.49G>A c.506-25004G>A (n.506-25004G>A) c.275G>A (p.Cys92Tyr) c.1469G>A (p.Cys490Tyr) c.327G>A c.747G>A c.726G>A c.1477+5001G>A (n.1477+5001G>A) c.47G>A (p.Cys16Tyr) c.*969G>A (n.*969G>A) c.410-25004G>A (n.410-25004G>A) c.1529G>A (p.Cys510Tyr) c.494G>A (p.Cys165Tyr) c.1238G>A (p.Cys413Tyr) | ClinVar |
2 | g.1917292A>C | CA345702057 | MYT1L | c.1525T>G (p.Cys509Gly) c.1020T>G c.1026T>G c.1531T>G (p.Cys511Gly) c.553T>G (p.Cys185Gly) c.48T>G c.506-25005T>G (n.506-25005T>G) c.274T>G (p.Cys92Gly) c.1468T>G (p.Cys490Gly) c.326T>G c.746T>G c.725T>G c.1477+5000T>G (n.1477+5000T>G) c.46T>G (p.Cys16Gly) c.*968T>G (n.*968T>G) c.410-25005T>G (n.410-25005T>G) c.1528T>G (p.Cys510Gly) c.493T>G (p.Cys165Gly) c.1237T>G (p.Cys413Gly) | |
2 | g.1917292A>G | CA345702058 | MYT1L | c.1525T>C (p.Cys509Arg) c.1020T>C c.1026T>C c.1531T>C (p.Cys511Arg) c.553T>C (p.Cys185Arg) c.48T>C c.506-25005T>C (n.506-25005T>C) c.274T>C (p.Cys92Arg) c.1468T>C (p.Cys490Arg) c.326T>C c.746T>C c.725T>C c.1477+5000T>C (n.1477+5000T>C) c.46T>C (p.Cys16Arg) c.*968T>C (n.*968T>C) c.410-25005T>C (n.410-25005T>C) c.1528T>C (p.Cys510Arg) c.493T>C (p.Cys165Arg) c.1237T>C (p.Cys413Arg) | |
2 | g.1917292A>T | CA345702059 | MYT1L | c.1525T>A (p.Cys509Ser) c.1020T>A c.1026T>A c.1531T>A (p.Cys511Ser) c.553T>A (p.Cys185Ser) c.48T>A c.506-25005T>A (n.506-25005T>A) c.274T>A (p.Cys92Ser) c.1468T>A (p.Cys490Ser) c.326T>A c.746T>A c.725T>A c.1477+5000T>A (n.1477+5000T>A) c.46T>A (p.Cys16Ser) c.*968T>A (n.*968T>A) c.410-25005T>A (n.410-25005T>A) c.1528T>A (p.Cys510Ser) c.493T>A (p.Cys165Ser) c.1237T>A (p.Cys413Ser) | |
2 | g.1917293C>A | CA424516952 | MYT1L | c.1524G>T (p.Gly508=) c.1019G>T c.1025G>T c.1530G>T (p.Gly510=) c.552G>T (p.Gly184=) c.47G>T c.506-25006G>T (n.506-25006G>T) c.273G>T (p.Gly91=) c.1467G>T (p.Gly489=) c.325G>T c.745G>T c.724G>T c.1477+4999G>T (n.1477+4999G>T) c.45G>T (p.Gly15=) c.*967G>T (n.*967G>T) c.410-25006G>T (n.410-25006G>T) c.1527G>T (p.Gly509=) c.492G>T (p.Gly164=) c.1236G>T (p.Gly412=) | |
2 | g.1917293C>G | CA424516953 | MYT1L | c.1524G>C (p.Gly508=) c.1019G>C c.1025G>C c.1530G>C (p.Gly510=) c.552G>C (p.Gly184=) c.47G>C c.506-25006G>C (n.506-25006G>C) c.273G>C (p.Gly91=) c.1467G>C (p.Gly489=) c.325G>C c.745G>C c.724G>C c.1477+4999G>C (n.1477+4999G>C) c.45G>C (p.Gly15=) c.*967G>C (n.*967G>C) c.410-25006G>C (n.410-25006G>C) c.1527G>C (p.Gly509=) c.492G>C (p.Gly164=) c.1236G>C (p.Gly412=) | |
2 | g.1917293C>T | CA424516954 | MYT1L | c.1524G>A (p.Gly508=) c.1019G>A c.1025G>A c.1530G>A (p.Gly510=) c.552G>A (p.Gly184=) c.47G>A c.506-25006G>A (n.506-25006G>A) c.273G>A (p.Gly91=) c.1467G>A (p.Gly489=) c.325G>A c.745G>A c.724G>A c.1477+4999G>A (n.1477+4999G>A) c.45G>A (p.Gly15=) c.*967G>A (n.*967G>A) c.410-25006G>A (n.410-25006G>A) c.1527G>A (p.Gly509=) c.492G>A (p.Gly164=) c.1236G>A (p.Gly412=) | gnomAD v4 |
2 | g.1917294C>A | CA345702060 | MYT1L | c.1523G>T (p.Gly508Val) c.1018G>T c.1024G>T c.1529G>T (p.Gly510Val) c.551G>T (p.Gly184Val) c.46G>T c.506-25007G>T (n.506-25007G>T) c.272G>T (p.Gly91Val) c.1466G>T (p.Gly489Val) c.324G>T c.744G>T c.723G>T c.1477+4998G>T (n.1477+4998G>T) c.44G>T (p.Gly15Val) c.*966G>T (n.*966G>T) c.410-25007G>T (n.410-25007G>T) c.1526G>T (p.Gly509Val) c.491G>T (p.Gly164Val) c.1235G>T (p.Gly412Val) | COSMIC COSMIC |
2 | g.1917294C>G | CA345702062 | MYT1L | c.1523G>C (p.Gly508Ala) c.1018G>C c.1024G>C c.1529G>C (p.Gly510Ala) c.551G>C (p.Gly184Ala) c.46G>C c.506-25007G>C (n.506-25007G>C) c.272G>C (p.Gly91Ala) c.1466G>C (p.Gly489Ala) c.324G>C c.744G>C c.723G>C c.1477+4998G>C (n.1477+4998G>C) c.44G>C (p.Gly15Ala) c.*966G>C (n.*966G>C) c.410-25007G>C (n.410-25007G>C) c.1526G>C (p.Gly509Ala) c.491G>C (p.Gly164Ala) c.1235G>C (p.Gly412Ala) | |
2 | g.1917294C>T | CA345702061 | MYT1L | c.1523G>A (p.Gly508Glu) c.1018G>A c.1024G>A c.1529G>A (p.Gly510Glu) c.551G>A (p.Gly184Glu) c.46G>A c.506-25007G>A (n.506-25007G>A) c.272G>A (p.Gly91Glu) c.1466G>A (p.Gly489Glu) c.324G>A c.744G>A c.723G>A c.1477+4998G>A (n.1477+4998G>A) c.44G>A (p.Gly15Glu) c.*966G>A (n.*966G>A) c.410-25007G>A (n.410-25007G>A) c.1526G>A (p.Gly509Glu) c.491G>A (p.Gly164Glu) c.1235G>A (p.Gly412Glu) | gnomAD v4 |
2 | g.1917295C>A | CA345702063 | MYT1L | c.1522G>T (p.Gly508Trp) c.1017G>T c.1023G>T c.1528G>T (p.Gly510Trp) c.550G>T (p.Gly184Trp) c.45G>T c.506-25008G>T (n.506-25008G>T) c.271G>T (p.Gly91Trp) c.1465G>T (p.Gly489Trp) c.323G>T c.743G>T c.722G>T c.1477+4997G>T (n.1477+4997G>T) c.43G>T (p.Gly15Trp) c.*965G>T (n.*965G>T) c.410-25008G>T (n.410-25008G>T) c.1525G>T (p.Gly509Trp) c.490G>T (p.Gly164Trp) c.1234G>T (p.Gly412Trp) | COSMIC |
2 | g.1917295C= | CA1233801032 | MYT1L | c.1522G= (p.Gly508=) c.1017G= c.1023G= c.1528G= (p.Gly510=) c.550G= (p.Gly184=) c.45G= c.506-25008G= (n.506-25008G=) c.271G= (p.Gly91=) c.1465G= (p.Gly489=) c.323G= c.743G= c.722G= c.1477+4997G= (n.1477+4997G=) c.43G= (p.Gly15=) c.*965G= (n.*965G=) c.410-25008G= (n.410-25008G=) c.1525G= (p.Gly509=) c.490G= (p.Gly164=) c.1234G= (p.Gly412=) | |
2 | g.1917295C>G | CA345702064 | MYT1L | c.1522G>C (p.Gly508Arg) c.1017G>C c.1023G>C c.1528G>C (p.Gly510Arg) c.550G>C (p.Gly184Arg) c.45G>C c.506-25008G>C (n.506-25008G>C) c.271G>C (p.Gly91Arg) c.1465G>C (p.Gly489Arg) c.323G>C c.743G>C c.722G>C c.1477+4997G>C (n.1477+4997G>C) c.43G>C (p.Gly15Arg) c.*965G>C (n.*965G>C) c.410-25008G>C (n.410-25008G>C) c.1525G>C (p.Gly509Arg) c.490G>C (p.Gly164Arg) c.1234G>C (p.Gly412Arg) | |
2 | g.1917295C>T | CA345702065 | MYT1L | c.1522G>A (p.Gly508Arg) c.1017G>A c.1023G>A c.1528G>A (p.Gly510Arg) c.550G>A (p.Gly184Arg) c.45G>A c.506-25008G>A (n.506-25008G>A) c.271G>A (p.Gly91Arg) c.1465G>A (p.Gly489Arg) c.323G>A c.743G>A c.722G>A c.1477+4997G>A (n.1477+4997G>A) c.43G>A (p.Gly15Arg) c.*965G>A (n.*965G>A) c.410-25008G>A (n.410-25008G>A) c.1525G>A (p.Gly509Arg) c.490G>A (p.Gly164Arg) c.1234G>A (p.Gly412Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.1917296G>A | CA1514218 | MYT1L | c.1521C>T (p.Pro507=) c.1016C>T c.1022C>T c.1527C>T (p.Pro509=) c.549C>T (p.Pro183=) c.44C>T c.506-25009C>T (n.506-25009C>T) c.270C>T (p.Pro90=) c.1464C>T (p.Pro488=) c.322C>T c.742C>T c.721C>T c.1477+4996C>T (n.1477+4996C>T) c.42C>T (p.Pro14=) c.*964C>T (n.*964C>T) c.410-25009C>T (n.410-25009C>T) c.1524C>T (p.Pro508=) c.489C>T (p.Pro163=) c.1233C>T (p.Pro411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917296G>C | CA424516955 | MYT1L | c.1521C>G (p.Pro507=) c.1016C>G c.1022C>G c.1527C>G (p.Pro509=) c.549C>G (p.Pro183=) c.44C>G c.506-25009C>G (n.506-25009C>G) c.270C>G (p.Pro90=) c.1464C>G (p.Pro488=) c.322C>G c.742C>G c.721C>G c.1477+4996C>G (n.1477+4996C>G) c.42C>G (p.Pro14=) c.*964C>G (n.*964C>G) c.410-25009C>G (n.410-25009C>G) c.1524C>G (p.Pro508=) c.489C>G (p.Pro163=) c.1233C>G (p.Pro411=) | |
2 | g.1917296G= | CA1233801033 | MYT1L | c.1521C= (p.Pro507=) c.1016C= c.1022C= c.1527C= (p.Pro509=) c.549C= (p.Pro183=) c.44C= c.506-25009C= (n.506-25009C=) c.270C= (p.Pro90=) c.1464C= (p.Pro488=) c.322C= c.742C= c.721C= c.1477+4996C= (n.1477+4996C=) c.42C= (p.Pro14=) c.*964C= (n.*964C=) c.410-25009C= (n.410-25009C=) c.1524C= (p.Pro508=) c.489C= (p.Pro163=) c.1233C= (p.Pro411=) | |
2 | g.1917296G>T | CA424516956 | MYT1L | c.1521C>A (p.Pro507=) c.1016C>A c.1022C>A c.1527C>A (p.Pro509=) c.549C>A (p.Pro183=) c.44C>A c.506-25009C>A (n.506-25009C>A) c.270C>A (p.Pro90=) c.1464C>A (p.Pro488=) c.322C>A c.742C>A c.721C>A c.1477+4996C>A (n.1477+4996C>A) c.42C>A (p.Pro14=) c.*964C>A (n.*964C>A) c.410-25009C>A (n.410-25009C>A) c.1524C>A (p.Pro508=) c.489C>A (p.Pro163=) c.1233C>A (p.Pro411=) | |
2 | g.1917300dup | CA2832539862 | MYT1L | c.1521dup (p.Gly508ArgfsTer3) c.1016dup c.1022dup c.1527dup (p.Gly510ArgfsTer3) c.549dup (p.Gly184ArgfsTer3) c.44dup c.506-25009dup (n.506-25009dup) c.270dup (p.Gly91ArgfsTer3) c.1464dup (p.Gly489ArgfsTer3) c.322dup c.742dup c.721dup c.1477+4996dup (n.1477+4996dup) c.42dup (p.Gly15ArgfsTer3) c.*964dup (n.*964dup) c.410-25009dup (n.410-25009dup) c.1524dup (p.Gly509ArgfsTer3) c.489dup (p.Gly164ArgfsTer3) c.1233dup (p.Gly412ArgfsTer3) | |
2 | g.1917300del | CA645535922 | MYT1L | c.1521del (p.Cys509ValfsTer7) c.1016del c.1022del c.1527del (p.Cys511ValfsTer7) c.549del (p.Cys185ValfsTer7) c.44del c.506-25009del (n.506-25009del) c.270del (p.Cys92ValfsTer7) c.1464del (p.Cys490ValfsTer7) c.322del c.742del c.721del c.1477+4996del (n.1477+4996del) c.42del (p.Cys16ValfsTer7) c.*964del (n.*964del) c.410-25009del (n.410-25009del) c.1524del (p.Cys510ValfsTer7) c.489del (p.Cys165ValfsTer7) c.1233del (p.Cys413ValfsTer7) | COSMIC COSMIC |
2 | g.1917297G>A | CA345702068 | MYT1L | c.1520C>T (p.Pro507Leu) c.1015C>T c.1021C>T c.1526C>T (p.Pro509Leu) c.548C>T (p.Pro183Leu) c.43C>T c.506-25010C>T (n.506-25010C>T) c.269C>T (p.Pro90Leu) c.1463C>T (p.Pro488Leu) c.321C>T c.741C>T c.720C>T c.1477+4995C>T (n.1477+4995C>T) c.41C>T (p.Pro14Leu) c.*963C>T (n.*963C>T) c.410-25010C>T (n.410-25010C>T) c.1523C>T (p.Pro508Leu) c.488C>T (p.Pro163Leu) c.1232C>T (p.Pro411Leu) | |
2 | g.1917297G>C | CA345702066 | MYT1L | c.1520C>G (p.Pro507Arg) c.1015C>G c.1021C>G c.1526C>G (p.Pro509Arg) c.548C>G (p.Pro183Arg) c.43C>G c.506-25010C>G (n.506-25010C>G) c.269C>G (p.Pro90Arg) c.1463C>G (p.Pro488Arg) c.321C>G c.741C>G c.720C>G c.1477+4995C>G (n.1477+4995C>G) c.41C>G (p.Pro14Arg) c.*963C>G (n.*963C>G) c.410-25010C>G (n.410-25010C>G) c.1523C>G (p.Pro508Arg) c.488C>G (p.Pro163Arg) c.1232C>G (p.Pro411Arg) | |
2 | g.1917297G>T | CA345702067 | MYT1L | c.1520C>A (p.Pro507His) c.1015C>A c.1021C>A c.1526C>A (p.Pro509His) c.548C>A (p.Pro183His) c.43C>A c.506-25010C>A (n.506-25010C>A) c.269C>A (p.Pro90His) c.1463C>A (p.Pro488His) c.321C>A c.741C>A c.720C>A c.1477+4995C>A (n.1477+4995C>A) c.41C>A (p.Pro14His) c.*963C>A (n.*963C>A) c.410-25010C>A (n.410-25010C>A) c.1523C>A (p.Pro508His) c.488C>A (p.Pro163His) c.1232C>A (p.Pro411His) | |
2 | g.1917298G>A | CA345702069 | MYT1L | c.1519C>T (p.Pro507Ser) c.1014C>T c.1020C>T c.1525C>T (p.Pro509Ser) c.547C>T (p.Pro183Ser) c.42C>T c.506-25011C>T (n.506-25011C>T) c.268C>T (p.Pro90Ser) c.1462C>T (p.Pro488Ser) c.320C>T c.740C>T c.719C>T c.1477+4994C>T (n.1477+4994C>T) c.40C>T (p.Pro14Ser) c.*962C>T (n.*962C>T) c.410-25011C>T (n.410-25011C>T) c.1522C>T (p.Pro508Ser) c.487C>T (p.Pro163Ser) c.1231C>T (p.Pro411Ser) | COSMIC COSMIC |
2 | g.1917298G>C | CA345702070 | MYT1L | c.1519C>G (p.Pro507Ala) c.1014C>G c.1020C>G c.1525C>G (p.Pro509Ala) c.547C>G (p.Pro183Ala) c.42C>G c.506-25011C>G (n.506-25011C>G) c.268C>G (p.Pro90Ala) c.1462C>G (p.Pro488Ala) c.320C>G c.740C>G c.719C>G c.1477+4994C>G (n.1477+4994C>G) c.40C>G (p.Pro14Ala) c.*962C>G (n.*962C>G) c.410-25011C>G (n.410-25011C>G) c.1522C>G (p.Pro508Ala) c.487C>G (p.Pro163Ala) c.1231C>G (p.Pro411Ala) | COSMIC COSMIC |
2 | g.1917298G>T | CA345702071 | MYT1L | c.1519C>A (p.Pro507Thr) c.1014C>A c.1020C>A c.1525C>A (p.Pro509Thr) c.547C>A (p.Pro183Thr) c.42C>A c.506-25011C>A (n.506-25011C>A) c.268C>A (p.Pro90Thr) c.1462C>A (p.Pro488Thr) c.320C>A c.740C>A c.719C>A c.1477+4994C>A (n.1477+4994C>A) c.40C>A (p.Pro14Thr) c.*962C>A (n.*962C>A) c.410-25011C>A (n.410-25011C>A) c.1522C>A (p.Pro508Thr) c.487C>A (p.Pro163Thr) c.1231C>A (p.Pro411Thr) | |
2 | g.1917299G>A | CA424516959 | MYT1L | c.1518C>T (p.Thr506=) c.1013C>T c.1019C>T c.1524C>T (p.Thr508=) c.546C>T (p.Thr182=) c.41C>T c.506-25012C>T (n.506-25012C>T) c.267C>T (p.Thr89=) c.1461C>T (p.Thr487=) c.319C>T c.739C>T c.718C>T c.1477+4993C>T (n.1477+4993C>T) c.39C>T (p.Thr13=) c.*961C>T (n.*961C>T) c.410-25012C>T (n.410-25012C>T) c.1521C>T (p.Thr507=) c.486C>T (p.Thr162=) c.1230C>T (p.Thr410=) | |
2 | g.1917299G>C | CA424516958 | MYT1L | c.1518C>G (p.Thr506=) c.1013C>G c.1019C>G c.1524C>G (p.Thr508=) c.546C>G (p.Thr182=) c.41C>G c.506-25012C>G (n.506-25012C>G) c.267C>G (p.Thr89=) c.1461C>G (p.Thr487=) c.319C>G c.739C>G c.718C>G c.1477+4993C>G (n.1477+4993C>G) c.39C>G (p.Thr13=) c.*961C>G (n.*961C>G) c.410-25012C>G (n.410-25012C>G) c.1521C>G (p.Thr507=) c.486C>G (p.Thr162=) c.1230C>G (p.Thr410=) | gnomAD v4 |
2 | g.1917299G>T | CA424516957 | MYT1L | c.1518C>A (p.Thr506=) c.1013C>A c.1019C>A c.1524C>A (p.Thr508=) c.546C>A (p.Thr182=) c.41C>A c.506-25012C>A (n.506-25012C>A) c.267C>A (p.Thr89=) c.1461C>A (p.Thr487=) c.319C>A c.739C>A c.718C>A c.1477+4993C>A (n.1477+4993C>A) c.39C>A (p.Thr13=) c.*961C>A (n.*961C>A) c.410-25012C>A (n.410-25012C>A) c.1521C>A (p.Thr507=) c.486C>A (p.Thr162=) c.1230C>A (p.Thr410=) | |
2 | g.1917300G>A | CA345702072 | MYT1L | c.1517C>T (p.Thr506Ile) c.1012C>T c.1018C>T c.1523C>T (p.Thr508Ile) c.545C>T (p.Thr182Ile) c.40C>T c.506-25013C>T (n.506-25013C>T) c.266C>T (p.Thr89Ile) c.1460C>T (p.Thr487Ile) c.318C>T c.738C>T c.717C>T c.1477+4992C>T (n.1477+4992C>T) c.38C>T (p.Thr13Ile) c.*960C>T (n.*960C>T) c.410-25013C>T (n.410-25013C>T) c.1520C>T (p.Thr507Ile) c.485C>T (p.Thr162Ile) c.1229C>T (p.Thr410Ile) | |
2 | g.1917300G>C | CA345702073 | MYT1L | c.1517C>G (p.Thr506Ser) c.1012C>G c.1018C>G c.1523C>G (p.Thr508Ser) c.545C>G (p.Thr182Ser) c.40C>G c.506-25013C>G (n.506-25013C>G) c.266C>G (p.Thr89Ser) c.1460C>G (p.Thr487Ser) c.318C>G c.738C>G c.717C>G c.1477+4992C>G (n.1477+4992C>G) c.38C>G (p.Thr13Ser) c.*960C>G (n.*960C>G) c.410-25013C>G (n.410-25013C>G) c.1520C>G (p.Thr507Ser) c.485C>G (p.Thr162Ser) c.1229C>G (p.Thr410Ser) | |
2 | g.1917300G>T | CA345702074 | MYT1L | c.1517C>A (p.Thr506Asn) c.1012C>A c.1018C>A c.1523C>A (p.Thr508Asn) c.545C>A (p.Thr182Asn) c.40C>A c.506-25013C>A (n.506-25013C>A) c.266C>A (p.Thr89Asn) c.1460C>A (p.Thr487Asn) c.318C>A c.738C>A c.717C>A c.1477+4992C>A (n.1477+4992C>A) c.38C>A (p.Thr13Asn) c.*960C>A (n.*960C>A) c.410-25013C>A (n.410-25013C>A) c.1520C>A (p.Thr507Asn) c.485C>A (p.Thr162Asn) c.1229C>A (p.Thr410Asn) | gnomAD v4 |
2 | g.1917301T>A | CA345702075 | MYT1L | c.1516A>T (p.Thr506Ser) c.1011A>T c.1017A>T c.1522A>T (p.Thr508Ser) c.544A>T (p.Thr182Ser) c.39A>T c.506-25014A>T (n.506-25014A>T) c.265A>T (p.Thr89Ser) c.1459A>T (p.Thr487Ser) c.317A>T c.737A>T c.716A>T c.1477+4991A>T (n.1477+4991A>T) c.37A>T (p.Thr13Ser) c.*959A>T (n.*959A>T) c.410-25014A>T (n.410-25014A>T) c.1519A>T (p.Thr507Ser) c.484A>T (p.Thr162Ser) c.1228A>T (p.Thr410Ser) | dbSNP |
2 | g.1917301T>C | CA345702076 | MYT1L | c.1516A>G (p.Thr506Ala) c.1011A>G c.1017A>G c.1522A>G (p.Thr508Ala) c.544A>G (p.Thr182Ala) c.39A>G c.506-25014A>G (n.506-25014A>G) c.265A>G (p.Thr89Ala) c.1459A>G (p.Thr487Ala) c.317A>G c.737A>G c.716A>G c.1477+4991A>G (n.1477+4991A>G) c.37A>G (p.Thr13Ala) c.*959A>G (n.*959A>G) c.410-25014A>G (n.410-25014A>G) c.1519A>G (p.Thr507Ala) c.484A>G (p.Thr162Ala) c.1228A>G (p.Thr410Ala) | dbSNP gnomAD v4 |
2 | g.1917301T>G | CA345702077 | MYT1L | c.1516A>C (p.Thr506Pro) c.1011A>C c.1017A>C c.1522A>C (p.Thr508Pro) c.544A>C (p.Thr182Pro) c.39A>C c.506-25014A>C (n.506-25014A>C) c.265A>C (p.Thr89Pro) c.1459A>C (p.Thr487Pro) c.317A>C c.737A>C c.716A>C c.1477+4991A>C (n.1477+4991A>C) c.37A>C (p.Thr13Pro) c.*959A>C (n.*959A>C) c.410-25014A>C (n.410-25014A>C) c.1519A>C (p.Thr507Pro) c.484A>C (p.Thr162Pro) c.1228A>C (p.Thr410Pro) | dbSNP |
2 | g.1917301T= | CA1233801034 | MYT1L | c.1516A= (p.Thr506=) c.1011A= c.1017A= c.1522A= (p.Thr508=) c.544A= (p.Thr182=) c.39A= c.506-25014A= (n.506-25014A=) c.265A= (p.Thr89=) c.1459A= (p.Thr487=) c.317A= c.737A= c.716A= c.1477+4991A= (n.1477+4991A=) c.37A= (p.Thr13=) c.*959A= (n.*959A=) c.410-25014A= (n.410-25014A=) c.1519A= (p.Thr507=) c.484A= (p.Thr162=) c.1228A= (p.Thr410=) | |
2 | g.1917302T>A | CA424516960 | MYT1L | c.1515A>T (p.Pro505=) c.1010A>T c.1016A>T c.1521A>T (p.Pro507=) c.543A>T (p.Pro181=) c.38A>T c.506-25015A>T (n.506-25015A>T) c.264A>T (p.Pro88=) c.1458A>T (p.Pro486=) c.316A>T c.736A>T c.715A>T c.1477+4990A>T (n.1477+4990A>T) c.36A>T (p.Pro12=) c.*958A>T (n.*958A>T) c.410-25015A>T (n.410-25015A>T) c.1518A>T (p.Pro506=) c.483A>T (p.Pro161=) c.1227A>T (p.Pro409=) | |
2 | g.1917302T>C | CA424516961 | MYT1L | c.1515A>G (p.Pro505=) c.1010A>G c.1016A>G c.1521A>G (p.Pro507=) c.543A>G (p.Pro181=) c.38A>G c.506-25015A>G (n.506-25015A>G) c.264A>G (p.Pro88=) c.1458A>G (p.Pro486=) c.316A>G c.736A>G c.715A>G c.1477+4990A>G (n.1477+4990A>G) c.36A>G (p.Pro12=) c.*958A>G (n.*958A>G) c.410-25015A>G (n.410-25015A>G) c.1518A>G (p.Pro506=) c.483A>G (p.Pro161=) c.1227A>G (p.Pro409=) | gnomAD v4 |
2 | g.1917302T>G | CA424516962 | MYT1L | c.1515A>C (p.Pro505=) c.1010A>C c.1016A>C c.1521A>C (p.Pro507=) c.543A>C (p.Pro181=) c.38A>C c.506-25015A>C (n.506-25015A>C) c.264A>C (p.Pro88=) c.1458A>C (p.Pro486=) c.316A>C c.736A>C c.715A>C c.1477+4990A>C (n.1477+4990A>C) c.36A>C (p.Pro12=) c.*958A>C (n.*958A>C) c.410-25015A>C (n.410-25015A>C) c.1518A>C (p.Pro506=) c.483A>C (p.Pro161=) c.1227A>C (p.Pro409=) | gnomAD v4 |
2 | g.1917303G>A | CA345702078 | MYT1L | c.1514C>T (p.Pro505Leu) c.1009C>T c.1015C>T c.1520C>T (p.Pro507Leu) c.542C>T (p.Pro181Leu) c.37C>T c.506-25016C>T (n.506-25016C>T) c.263C>T (p.Pro88Leu) c.1457C>T (p.Pro486Leu) c.315C>T c.735C>T c.714C>T c.1477+4989C>T (n.1477+4989C>T) c.35C>T (p.Pro12Leu) c.*957C>T (n.*957C>T) c.410-25016C>T (n.410-25016C>T) c.1517C>T (p.Pro506Leu) c.482C>T (p.Pro161Leu) c.1226C>T (p.Pro409Leu) | |
2 | g.1917303G>C | CA345702079 | MYT1L | c.1514C>G (p.Pro505Arg) c.1009C>G c.1015C>G c.1520C>G (p.Pro507Arg) c.542C>G (p.Pro181Arg) c.37C>G c.506-25016C>G (n.506-25016C>G) c.263C>G (p.Pro88Arg) c.1457C>G (p.Pro486Arg) c.315C>G c.735C>G c.714C>G c.1477+4989C>G (n.1477+4989C>G) c.35C>G (p.Pro12Arg) c.*957C>G (n.*957C>G) c.410-25016C>G (n.410-25016C>G) c.1517C>G (p.Pro506Arg) c.482C>G (p.Pro161Arg) c.1226C>G (p.Pro409Arg) | |
2 | g.1917303G>T | CA345702080 | MYT1L | c.1514C>A (p.Pro505Gln) c.1009C>A c.1015C>A c.1520C>A (p.Pro507Gln) c.542C>A (p.Pro181Gln) c.37C>A c.506-25016C>A (n.506-25016C>A) c.263C>A (p.Pro88Gln) c.1457C>A (p.Pro486Gln) c.315C>A c.735C>A c.714C>A c.1477+4989C>A (n.1477+4989C>A) c.35C>A (p.Pro12Gln) c.*957C>A (n.*957C>A) c.410-25016C>A (n.410-25016C>A) c.1517C>A (p.Pro506Gln) c.482C>A (p.Pro161Gln) c.1226C>A (p.Pro409Gln) | |
2 | g.1917304G>A | CA345702081 | MYT1L | c.1513C>T (p.Pro505Ser) c.1008C>T c.1014C>T c.1519C>T (p.Pro507Ser) c.541C>T (p.Pro181Ser) c.36C>T c.506-25017C>T (n.506-25017C>T) c.262C>T (p.Pro88Ser) c.1456C>T (p.Pro486Ser) c.314C>T c.734C>T c.713C>T c.1477+4988C>T (n.1477+4988C>T) c.34C>T (p.Pro12Ser) c.*956C>T (n.*956C>T) c.410-25017C>T (n.410-25017C>T) c.1516C>T (p.Pro506Ser) c.481C>T (p.Pro161Ser) c.1225C>T (p.Pro409Ser) | |
2 | g.1917304G>C | CA345702083 | MYT1L | c.1513C>G (p.Pro505Ala) c.1008C>G c.1014C>G c.1519C>G (p.Pro507Ala) c.541C>G (p.Pro181Ala) c.36C>G c.506-25017C>G (n.506-25017C>G) c.262C>G (p.Pro88Ala) c.1456C>G (p.Pro486Ala) c.314C>G c.734C>G c.713C>G c.1477+4988C>G (n.1477+4988C>G) c.34C>G (p.Pro12Ala) c.*956C>G (n.*956C>G) c.410-25017C>G (n.410-25017C>G) c.1516C>G (p.Pro506Ala) c.481C>G (p.Pro161Ala) c.1225C>G (p.Pro409Ala) | |
2 | g.1917304G>T | CA345702082 | MYT1L | c.1513C>A (p.Pro505Thr) c.1008C>A c.1014C>A c.1519C>A (p.Pro507Thr) c.541C>A (p.Pro181Thr) c.36C>A c.506-25017C>A (n.506-25017C>A) c.262C>A (p.Pro88Thr) c.1456C>A (p.Pro486Thr) c.314C>A c.734C>A c.713C>A c.1477+4988C>A (n.1477+4988C>A) c.34C>A (p.Pro12Thr) c.*956C>A (n.*956C>A) c.410-25017C>A (n.410-25017C>A) c.1516C>A (p.Pro506Thr) c.481C>A (p.Pro161Thr) c.1225C>A (p.Pro409Thr) | |
2 | g.1917305A= | CA1233801035 | MYT1L | c.1512T= (p.Cys504=) c.1007T= c.1013T= c.1518T= (p.Cys506=) c.540T= (p.Cys180=) c.35T= c.506-25018T= (n.506-25018T=) c.261T= (p.Cys87=) c.1455T= (p.Cys485=) c.313T= c.733T= c.712T= c.1477+4987T= (n.1477+4987T=) c.33T= (p.Cys11=) c.*955T= (n.*955T=) c.410-25018T= (n.410-25018T=) c.1515T= (p.Cys505=) c.480T= (p.Cys160=) c.1224T= (p.Cys408=) | |
2 | g.1917305A>C | CA345702084 | MYT1L | c.1512T>G (p.Cys504Trp) c.1007T>G c.1013T>G c.1518T>G (p.Cys506Trp) c.540T>G (p.Cys180Trp) c.35T>G c.506-25018T>G (n.506-25018T>G) c.261T>G (p.Cys87Trp) c.1455T>G (p.Cys485Trp) c.313T>G c.733T>G c.712T>G c.1477+4987T>G (n.1477+4987T>G) c.33T>G (p.Cys11Trp) c.*955T>G (n.*955T>G) c.410-25018T>G (n.410-25018T>G) c.1515T>G (p.Cys505Trp) c.480T>G (p.Cys160Trp) c.1224T>G (p.Cys408Trp) | |
2 | g.1917305A>G | CA41421340 | MYT1L | c.1512T>C (p.Cys504=) c.1007T>C c.1013T>C c.1518T>C (p.Cys506=) c.540T>C (p.Cys180=) c.35T>C c.506-25018T>C (n.506-25018T>C) c.261T>C (p.Cys87=) c.1455T>C (p.Cys485=) c.313T>C c.733T>C c.712T>C c.1477+4987T>C (n.1477+4987T>C) c.33T>C (p.Cys11=) c.*955T>C (n.*955T>C) c.410-25018T>C (n.410-25018T>C) c.1515T>C (p.Cys505=) c.480T>C (p.Cys160=) c.1224T>C (p.Cys408=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.1917305A>T | CA345702085 | MYT1L | c.1512T>A (p.Cys504Ter) c.1007T>A c.1013T>A c.1518T>A (p.Cys506Ter) c.540T>A (p.Cys180Ter) c.35T>A c.506-25018T>A (n.506-25018T>A) c.261T>A (p.Cys87Ter) c.1455T>A (p.Cys485Ter) c.313T>A c.733T>A c.712T>A c.1477+4987T>A (n.1477+4987T>A) c.33T>A (p.Cys11Ter) c.*955T>A (n.*955T>A) c.410-25018T>A (n.410-25018T>A) c.1515T>A (p.Cys505Ter) c.480T>A (p.Cys160Ter) c.1224T>A (p.Cys408Ter) | |
2 | g.1917306C>A | CA345702086 | MYT1L | c.1511G>T (p.Cys504Phe) c.1006G>T c.1012G>T c.1517G>T (p.Cys506Phe) c.539G>T (p.Cys180Phe) c.34G>T c.506-25019G>T (n.506-25019G>T) c.260G>T (p.Cys87Phe) c.1454G>T (p.Cys485Phe) c.312G>T c.732G>T c.711G>T c.1477+4986G>T (n.1477+4986G>T) c.32G>T (p.Cys11Phe) c.*954G>T (n.*954G>T) c.410-25019G>T (n.410-25019G>T) c.1514G>T (p.Cys505Phe) c.479G>T (p.Cys160Phe) c.1223G>T (p.Cys408Phe) | |
2 | g.1917306C>G | CA345702087 | MYT1L | c.1511G>C (p.Cys504Ser) c.1006G>C c.1012G>C c.1517G>C (p.Cys506Ser) c.539G>C (p.Cys180Ser) c.34G>C c.506-25019G>C (n.506-25019G>C) c.260G>C (p.Cys87Ser) c.1454G>C (p.Cys485Ser) c.312G>C c.732G>C c.711G>C c.1477+4986G>C (n.1477+4986G>C) c.32G>C (p.Cys11Ser) c.*954G>C (n.*954G>C) c.410-25019G>C (n.410-25019G>C) c.1514G>C (p.Cys505Ser) c.479G>C (p.Cys160Ser) c.1223G>C (p.Cys408Ser) | |
2 | g.1917306C>T | CA345702088 | MYT1L | c.1511G>A (p.Cys504Tyr) c.1006G>A c.1012G>A c.1517G>A (p.Cys506Tyr) c.539G>A (p.Cys180Tyr) c.34G>A c.506-25019G>A (n.506-25019G>A) c.260G>A (p.Cys87Tyr) c.1454G>A (p.Cys485Tyr) c.312G>A c.732G>A c.711G>A c.1477+4986G>A (n.1477+4986G>A) c.32G>A (p.Cys11Tyr) c.*954G>A (n.*954G>A) c.410-25019G>A (n.410-25019G>A) c.1514G>A (p.Cys505Tyr) c.479G>A (p.Cys160Tyr) c.1223G>A (p.Cys408Tyr) | |
2 | g.1917307A= | CA1233801036 | MYT1L | c.1510T= (p.Cys504=) c.1005T= c.1011T= c.1516T= (p.Cys506=) c.538T= (p.Cys180=) c.33T= c.506-25020T= (n.506-25020T=) c.259T= (p.Cys87=) c.1453T= (p.Cys485=) c.311T= c.731T= c.710T= c.1477+4985T= (n.1477+4985T=) c.31T= (p.Cys11=) c.*953T= (n.*953T=) c.410-25020T= (n.410-25020T=) c.1513T= (p.Cys505=) c.478T= (p.Cys160=) c.1222T= (p.Cys408=) | |
2 | g.1917307A>C | CA345702089 | MYT1L | c.1510T>G (p.Cys504Gly) c.1005T>G c.1011T>G c.1516T>G (p.Cys506Gly) c.538T>G (p.Cys180Gly) c.33T>G c.506-25020T>G (n.506-25020T>G) c.259T>G (p.Cys87Gly) c.1453T>G (p.Cys485Gly) c.311T>G c.731T>G c.710T>G c.1477+4985T>G (n.1477+4985T>G) c.31T>G (p.Cys11Gly) c.*953T>G (n.*953T>G) c.410-25020T>G (n.410-25020T>G) c.1513T>G (p.Cys505Gly) c.478T>G (p.Cys160Gly) c.1222T>G (p.Cys408Gly) | |
2 | g.1917307A>G | CA345702090 | MYT1L | c.1510T>C (p.Cys504Arg) c.1005T>C c.1011T>C c.1516T>C (p.Cys506Arg) c.538T>C (p.Cys180Arg) c.33T>C c.506-25020T>C (n.506-25020T>C) c.259T>C (p.Cys87Arg) c.1453T>C (p.Cys485Arg) c.311T>C c.731T>C c.710T>C c.1477+4985T>C (n.1477+4985T>C) c.31T>C (p.Cys11Arg) c.*953T>C (n.*953T>C) c.410-25020T>C (n.410-25020T>C) c.1513T>C (p.Cys505Arg) c.478T>C (p.Cys160Arg) c.1222T>C (p.Cys408Arg) | ClinVar dbSNP |
2 | g.1917307A>T | CA345702091 | MYT1L | c.1510T>A (p.Cys504Ser) c.1005T>A c.1011T>A c.1516T>A (p.Cys506Ser) c.538T>A (p.Cys180Ser) c.33T>A c.506-25020T>A (n.506-25020T>A) c.259T>A (p.Cys87Ser) c.1453T>A (p.Cys485Ser) c.311T>A c.731T>A c.710T>A c.1477+4985T>A (n.1477+4985T>A) c.31T>A (p.Cys11Ser) c.*953T>A (n.*953T>A) c.410-25020T>A (n.410-25020T>A) c.1513T>A (p.Cys505Ser) c.478T>A (p.Cys160Ser) c.1222T>A (p.Cys408Ser) | |
2 | g.1917308C>A | CA345702092 | MYT1L | c.1509G>T (p.Lys503Asn) c.1004G>T c.1010G>T c.1515G>T (p.Lys505Asn) c.537G>T (p.Lys179Asn) c.32G>T c.506-25021G>T (n.506-25021G>T) c.258G>T (p.Lys86Asn) c.1452G>T (p.Lys484Asn) c.310G>T c.730G>T c.709G>T c.1477+4984G>T (n.1477+4984G>T) c.30G>T (p.Lys10Asn) c.*952G>T (n.*952G>T) c.410-25021G>T (n.410-25021G>T) c.1512G>T (p.Lys504Asn) c.477G>T (p.Lys159Asn) c.1221G>T (p.Lys407Asn) | |
2 | g.1917308C>G | CA345702093 | MYT1L | c.1509G>C (p.Lys503Asn) c.1004G>C c.1010G>C c.1515G>C (p.Lys505Asn) c.537G>C (p.Lys179Asn) c.32G>C c.506-25021G>C (n.506-25021G>C) c.258G>C (p.Lys86Asn) c.1452G>C (p.Lys484Asn) c.310G>C c.730G>C c.709G>C c.1477+4984G>C (n.1477+4984G>C) c.30G>C (p.Lys10Asn) c.*952G>C (n.*952G>C) c.410-25021G>C (n.410-25021G>C) c.1512G>C (p.Lys504Asn) c.477G>C (p.Lys159Asn) c.1221G>C (p.Lys407Asn) | |
2 | g.1917308C>T | CA424516963 | MYT1L | c.1509G>A (p.Lys503=) c.1004G>A c.1010G>A c.1515G>A (p.Lys505=) c.537G>A (p.Lys179=) c.32G>A c.506-25021G>A (n.506-25021G>A) c.258G>A (p.Lys86=) c.1452G>A (p.Lys484=) c.310G>A c.730G>A c.709G>A c.1477+4984G>A (n.1477+4984G>A) c.30G>A (p.Lys10=) c.*952G>A (n.*952G>A) c.410-25021G>A (n.410-25021G>A) c.1512G>A (p.Lys504=) c.477G>A (p.Lys159=) c.1221G>A (p.Lys407=) | |
2 | g.1917309T>A | CA345702096 | MYT1L | c.1508A>T (p.Lys503Met) c.1003A>T c.1009A>T c.1514A>T (p.Lys505Met) c.536A>T (p.Lys179Met) c.31A>T c.506-25022A>T (n.506-25022A>T) c.257A>T (p.Lys86Met) c.1451A>T (p.Lys484Met) c.309A>T c.729A>T c.708A>T c.1477+4983A>T (n.1477+4983A>T) c.29A>T (p.Lys10Met) c.*951A>T (n.*951A>T) c.410-25022A>T (n.410-25022A>T) c.1511A>T (p.Lys504Met) c.476A>T (p.Lys159Met) c.1220A>T (p.Lys407Met) | COSMIC COSMIC |
2 | g.1917309T>C | CA345702095 | MYT1L | c.1508A>G (p.Lys503Arg) c.1003A>G c.1009A>G c.1514A>G (p.Lys505Arg) c.536A>G (p.Lys179Arg) c.31A>G c.506-25022A>G (n.506-25022A>G) c.257A>G (p.Lys86Arg) c.1451A>G (p.Lys484Arg) c.309A>G c.729A>G c.708A>G c.1477+4983A>G (n.1477+4983A>G) c.29A>G (p.Lys10Arg) c.*951A>G (n.*951A>G) c.410-25022A>G (n.410-25022A>G) c.1511A>G (p.Lys504Arg) c.476A>G (p.Lys159Arg) c.1220A>G (p.Lys407Arg) | |
2 | g.1917309T>G | CA345702094 | MYT1L | c.1508A>C (p.Lys503Thr) c.1003A>C c.1009A>C c.1514A>C (p.Lys505Thr) c.536A>C (p.Lys179Thr) c.31A>C c.506-25022A>C (n.506-25022A>C) c.257A>C (p.Lys86Thr) c.1451A>C (p.Lys484Thr) c.309A>C c.729A>C c.708A>C c.1477+4983A>C (n.1477+4983A>C) c.29A>C (p.Lys10Thr) c.*951A>C (n.*951A>C) c.410-25022A>C (n.410-25022A>C) c.1511A>C (p.Lys504Thr) c.476A>C (p.Lys159Thr) c.1220A>C (p.Lys407Thr) | |
2 | g.1917310T>A | CA345702097 | MYT1L | c.1507A>T (p.Lys503Ter) c.1002A>T c.1008A>T c.1513A>T (p.Lys505Ter) c.535A>T (p.Lys179Ter) c.30A>T c.506-25023A>T (n.506-25023A>T) c.256A>T (p.Lys86Ter) c.1450A>T (p.Lys484Ter) c.308A>T c.728A>T c.707A>T c.1477+4982A>T (n.1477+4982A>T) c.28A>T (p.Lys10Ter) c.*950A>T (n.*950A>T) c.410-25023A>T (n.410-25023A>T) c.1510A>T (p.Lys504Ter) c.475A>T (p.Lys159Ter) c.1219A>T (p.Lys407Ter) | |
2 | g.1917310T>C | CA345702098 | MYT1L | c.1507A>G (p.Lys503Glu) c.1002A>G c.1008A>G c.1513A>G (p.Lys505Glu) c.535A>G (p.Lys179Glu) c.30A>G c.506-25023A>G (n.506-25023A>G) c.256A>G (p.Lys86Glu) c.1450A>G (p.Lys484Glu) c.308A>G c.728A>G c.707A>G c.1477+4982A>G (n.1477+4982A>G) c.28A>G (p.Lys10Glu) c.*950A>G (n.*950A>G) c.410-25023A>G (n.410-25023A>G) c.1510A>G (p.Lys504Glu) c.475A>G (p.Lys159Glu) c.1219A>G (p.Lys407Glu) | |
2 | g.1917310T>G | CA345702099 | MYT1L | c.1507A>C (p.Lys503Gln) c.1002A>C c.1008A>C c.1513A>C (p.Lys505Gln) c.535A>C (p.Lys179Gln) c.30A>C c.506-25023A>C (n.506-25023A>C) c.256A>C (p.Lys86Gln) c.1450A>C (p.Lys484Gln) c.308A>C c.728A>C c.707A>C c.1477+4982A>C (n.1477+4982A>C) c.28A>C (p.Lys10Gln) c.*950A>C (n.*950A>C) c.410-25023A>C (n.410-25023A>C) c.1510A>C (p.Lys504Gln) c.475A>C (p.Lys159Gln) c.1219A>C (p.Lys407Gln) | |
2 | g.1917311G>A | CA1514219 | MYT1L | c.1506C>T (p.Ser502=) c.1001C>T c.1007C>T c.1512C>T (p.Ser504=) c.534C>T (p.Ser178=) c.29C>T c.506-25024C>T (n.506-25024C>T) c.255C>T (p.Ser85=) c.1449C>T (p.Ser483=) c.307C>T c.727C>T c.706C>T c.1477+4981C>T (n.1477+4981C>T) c.27C>T (p.Ser9=) c.*949C>T (n.*949C>T) c.410-25024C>T (n.410-25024C>T) c.1509C>T (p.Ser503=) c.474C>T (p.Ser158=) c.1218C>T (p.Ser406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917311G>C | CA345702100 | MYT1L | c.1506C>G (p.Ser502Arg) c.1001C>G c.1007C>G c.1512C>G (p.Ser504Arg) c.534C>G (p.Ser178Arg) c.29C>G c.506-25024C>G (n.506-25024C>G) c.255C>G (p.Ser85Arg) c.1449C>G (p.Ser483Arg) c.307C>G c.727C>G c.706C>G c.1477+4981C>G (n.1477+4981C>G) c.27C>G (p.Ser9Arg) c.*949C>G (n.*949C>G) c.410-25024C>G (n.410-25024C>G) c.1509C>G (p.Ser503Arg) c.474C>G (p.Ser158Arg) c.1218C>G (p.Ser406Arg) | |
2 | g.1917311G= | CA1233801037 | MYT1L | c.1506C= (p.Ser502=) c.1001C= c.1007C= c.1512C= (p.Ser504=) c.534C= (p.Ser178=) c.29C= c.506-25024C= (n.506-25024C=) c.255C= (p.Ser85=) c.1449C= (p.Ser483=) c.307C= c.727C= c.706C= c.1477+4981C= (n.1477+4981C=) c.27C= (p.Ser9=) c.*949C= (n.*949C=) c.410-25024C= (n.410-25024C=) c.1509C= (p.Ser503=) c.474C= (p.Ser158=) c.1218C= (p.Ser406=) | |
2 | g.1917311G>T | CA345702102 | MYT1L | c.1506C>A (p.Ser502Arg) c.1001C>A c.1007C>A c.1512C>A (p.Ser504Arg) c.534C>A (p.Ser178Arg) c.29C>A c.506-25024C>A (n.506-25024C>A) c.255C>A (p.Ser85Arg) c.1449C>A (p.Ser483Arg) c.307C>A c.727C>A c.706C>A c.1477+4981C>A (n.1477+4981C>A) c.27C>A (p.Ser9Arg) c.*949C>A (n.*949C>A) c.410-25024C>A (n.410-25024C>A) c.1509C>A (p.Ser503Arg) c.474C>A (p.Ser158Arg) c.1218C>A (p.Ser406Arg) | |
2 | g.1917312C>A | CA345702103 | MYT1L | c.1505G>T (p.Ser502Ile) c.1000G>T c.1006G>T c.1511G>T (p.Ser504Ile) c.533G>T (p.Ser178Ile) c.28G>T c.506-25025G>T (n.506-25025G>T) c.254G>T (p.Ser85Ile) c.1448G>T (p.Ser483Ile) c.306G>T c.726G>T c.705G>T c.1477+4980G>T (n.1477+4980G>T) c.26G>T (p.Ser9Ile) c.*948G>T (n.*948G>T) c.410-25025G>T (n.410-25025G>T) c.1508G>T (p.Ser503Ile) c.473G>T (p.Ser158Ile) c.1217G>T (p.Ser406Ile) | |
2 | g.1917312C= | CA1233801038 | MYT1L | c.1505G= (p.Ser502=) c.1000G= c.1006G= c.1511G= (p.Ser504=) c.533G= (p.Ser178=) c.28G= c.506-25025G= (n.506-25025G=) c.254G= (p.Ser85=) c.1448G= (p.Ser483=) c.306G= c.726G= c.705G= c.1477+4980G= (n.1477+4980G=) c.26G= (p.Ser9=) c.*948G= (n.*948G=) c.410-25025G= (n.410-25025G=) c.1508G= (p.Ser503=) c.473G= (p.Ser158=) c.1217G= (p.Ser406=) | |
2 | g.1917312C>G | CA345702104 | MYT1L | c.1505G>C (p.Ser502Thr) c.1000G>C c.1006G>C c.1511G>C (p.Ser504Thr) c.533G>C (p.Ser178Thr) c.28G>C c.506-25025G>C (n.506-25025G>C) c.254G>C (p.Ser85Thr) c.1448G>C (p.Ser483Thr) c.306G>C c.726G>C c.705G>C c.1477+4980G>C (n.1477+4980G>C) c.26G>C (p.Ser9Thr) c.*948G>C (n.*948G>C) c.410-25025G>C (n.410-25025G>C) c.1508G>C (p.Ser503Thr) c.473G>C (p.Ser158Thr) c.1217G>C (p.Ser406Thr) | dbSNP |
2 | g.1917312C>T | CA345702106 | MYT1L | c.1505G>A (p.Ser502Asn) c.1000G>A c.1006G>A c.1511G>A (p.Ser504Asn) c.533G>A (p.Ser178Asn) c.28G>A c.506-25025G>A (n.506-25025G>A) c.254G>A (p.Ser85Asn) c.1448G>A (p.Ser483Asn) c.306G>A c.726G>A c.705G>A c.1477+4980G>A (n.1477+4980G>A) c.26G>A (p.Ser9Asn) c.*948G>A (n.*948G>A) c.410-25025G>A (n.410-25025G>A) c.1508G>A (p.Ser503Asn) c.473G>A (p.Ser158Asn) c.1217G>A (p.Ser406Asn) | |
2 | g.1917313T>A | CA345702107 | MYT1L | c.1504A>T (p.Ser502Cys) c.999A>T c.1005A>T c.1510A>T (p.Ser504Cys) c.532A>T (p.Ser178Cys) c.27A>T c.506-25026A>T (n.506-25026A>T) c.253A>T (p.Ser85Cys) c.1447A>T (p.Ser483Cys) c.305A>T c.725A>T c.704A>T c.1477+4979A>T (n.1477+4979A>T) c.25A>T (p.Ser9Cys) c.*947A>T (n.*947A>T) c.410-25026A>T (n.410-25026A>T) c.1507A>T (p.Ser503Cys) c.472A>T (p.Ser158Cys) c.1216A>T (p.Ser406Cys) | |
2 | g.1917313T>C | CA345702108 | MYT1L | c.1504A>G (p.Ser502Gly) c.999A>G c.1005A>G c.1510A>G (p.Ser504Gly) c.532A>G (p.Ser178Gly) c.27A>G c.506-25026A>G (n.506-25026A>G) c.253A>G (p.Ser85Gly) c.1447A>G (p.Ser483Gly) c.305A>G c.725A>G c.704A>G c.1477+4979A>G (n.1477+4979A>G) c.25A>G (p.Ser9Gly) c.*947A>G (n.*947A>G) c.410-25026A>G (n.410-25026A>G) c.1507A>G (p.Ser503Gly) c.472A>G (p.Ser158Gly) c.1216A>G (p.Ser406Gly) | |
2 | g.1917313T>G | CA345702110 | MYT1L | c.1504A>C (p.Ser502Arg) c.999A>C c.1005A>C c.1510A>C (p.Ser504Arg) c.532A>C (p.Ser178Arg) c.27A>C c.506-25026A>C (n.506-25026A>C) c.253A>C (p.Ser85Arg) c.1447A>C (p.Ser483Arg) c.305A>C c.725A>C c.704A>C c.1477+4979A>C (n.1477+4979A>C) c.25A>C (p.Ser9Arg) c.*947A>C (n.*947A>C) c.410-25026A>C (n.410-25026A>C) c.1507A>C (p.Ser503Arg) c.472A>C (p.Ser158Arg) c.1216A>C (p.Ser406Arg) | |
2 | g.1917314C>A | CA345702113 | MYT1L | c.1503G>T (p.Glu501Asp) c.998G>T c.1004G>T c.1509G>T (p.Glu503Asp) c.531G>T (p.Glu177Asp) c.26G>T c.506-25027G>T (n.506-25027G>T) c.252G>T (p.Glu84Asp) c.1446G>T (p.Glu482Asp) c.304G>T c.724G>T c.703G>T c.1477+4978G>T (n.1477+4978G>T) c.24G>T (p.Glu8Asp) c.*946G>T (n.*946G>T) c.410-25027G>T (n.410-25027G>T) c.1506G>T (p.Glu502Asp) c.471G>T (p.Glu157Asp) c.1215G>T (p.Glu405Asp) | |
2 | g.1917314C= | CA1233801039 | MYT1L | c.1503G= (p.Glu501=) c.998G= c.1004G= c.1509G= (p.Glu503=) c.531G= (p.Glu177=) c.26G= c.506-25027G= (n.506-25027G=) c.252G= (p.Glu84=) c.1446G= (p.Glu482=) c.304G= c.724G= c.703G= c.1477+4978G= (n.1477+4978G=) c.24G= (p.Glu8=) c.*946G= (n.*946G=) c.410-25027G= (n.410-25027G=) c.1506G= (p.Glu502=) c.471G= (p.Glu157=) c.1215G= (p.Glu405=) | |
2 | g.1917314C>G | CA345702114 | MYT1L | c.1503G>C (p.Glu501Asp) c.998G>C c.1004G>C c.1509G>C (p.Glu503Asp) c.531G>C (p.Glu177Asp) c.26G>C c.506-25027G>C (n.506-25027G>C) c.252G>C (p.Glu84Asp) c.1446G>C (p.Glu482Asp) c.304G>C c.724G>C c.703G>C c.1477+4978G>C (n.1477+4978G>C) c.24G>C (p.Glu8Asp) c.*946G>C (n.*946G>C) c.410-25027G>C (n.410-25027G>C) c.1506G>C (p.Glu502Asp) c.471G>C (p.Glu157Asp) c.1215G>C (p.Glu405Asp) | gnomAD v4 |
2 | g.1917314C>T | CA1514220 | MYT1L | c.1503G>A (p.Glu501=) c.998G>A c.1004G>A c.1509G>A (p.Glu503=) c.531G>A (p.Glu177=) c.26G>A c.506-25027G>A (n.506-25027G>A) c.252G>A (p.Glu84=) c.1446G>A (p.Glu482=) c.304G>A c.724G>A c.703G>A c.1477+4978G>A (n.1477+4978G>A) c.24G>A (p.Glu8=) c.*946G>A (n.*946G>A) c.410-25027G>A (n.410-25027G>A) c.1506G>A (p.Glu502=) c.471G>A (p.Glu157=) c.1215G>A (p.Glu405=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917315T>A | CA345702115 | MYT1L | c.1502A>T (p.Glu501Val) c.997A>T c.1003A>T c.1508A>T (p.Glu503Val) c.530A>T (p.Glu177Val) c.25A>T c.506-25028A>T (n.506-25028A>T) c.251A>T (p.Glu84Val) c.1445A>T (p.Glu482Val) c.303A>T c.723A>T c.702A>T c.1477+4977A>T (n.1477+4977A>T) c.23A>T (p.Glu8Val) c.*945A>T (n.*945A>T) c.410-25028A>T (n.410-25028A>T) c.1505A>T (p.Glu502Val) c.470A>T (p.Glu157Val) c.1214A>T (p.Glu405Val) | |
2 | g.1917315T>C | CA345702117 | MYT1L | c.1502A>G (p.Glu501Gly) c.997A>G c.1003A>G c.1508A>G (p.Glu503Gly) c.530A>G (p.Glu177Gly) c.25A>G c.506-25028A>G (n.506-25028A>G) c.251A>G (p.Glu84Gly) c.1445A>G (p.Glu482Gly) c.303A>G c.723A>G c.702A>G c.1477+4977A>G (n.1477+4977A>G) c.23A>G (p.Glu8Gly) c.*945A>G (n.*945A>G) c.410-25028A>G (n.410-25028A>G) c.1505A>G (p.Glu502Gly) c.470A>G (p.Glu157Gly) c.1214A>G (p.Glu405Gly) | |
2 | g.1917315T>G | CA345702119 | MYT1L | c.1502A>C (p.Glu501Ala) c.997A>C c.1003A>C c.1508A>C (p.Glu503Ala) c.530A>C (p.Glu177Ala) c.25A>C c.506-25028A>C (n.506-25028A>C) c.251A>C (p.Glu84Ala) c.1445A>C (p.Glu482Ala) c.303A>C c.723A>C c.702A>C c.1477+4977A>C (n.1477+4977A>C) c.23A>C (p.Glu8Ala) c.*945A>C (n.*945A>C) c.410-25028A>C (n.410-25028A>C) c.1505A>C (p.Glu502Ala) c.470A>C (p.Glu157Ala) c.1214A>C (p.Glu405Ala) | |
2 | g.1917316C>A | CA345702121 | MYT1L | c.1501G>T (p.Glu501Ter) c.996G>T c.1002G>T c.1507G>T (p.Glu503Ter) c.529G>T (p.Glu177Ter) c.24G>T c.506-25029G>T (n.506-25029G>T) c.250G>T (p.Glu84Ter) c.1444G>T (p.Glu482Ter) c.302G>T c.722G>T c.701G>T c.1477+4976G>T (n.1477+4976G>T) c.22G>T (p.Glu8Ter) c.*944G>T (n.*944G>T) c.410-25029G>T (n.410-25029G>T) c.1504G>T (p.Glu502Ter) c.469G>T (p.Glu157Ter) c.1213G>T (p.Glu405Ter) | |
2 | g.1917316C>G | CA345702122 | MYT1L | c.1501G>C (p.Glu501Gln) c.996G>C c.1002G>C c.1507G>C (p.Glu503Gln) c.529G>C (p.Glu177Gln) c.24G>C c.506-25029G>C (n.506-25029G>C) c.250G>C (p.Glu84Gln) c.1444G>C (p.Glu482Gln) c.302G>C c.722G>C c.701G>C c.1477+4976G>C (n.1477+4976G>C) c.22G>C (p.Glu8Gln) c.*944G>C (n.*944G>C) c.410-25029G>C (n.410-25029G>C) c.1504G>C (p.Glu502Gln) c.469G>C (p.Glu157Gln) c.1213G>C (p.Glu405Gln) | |
2 | g.1917316C>T | CA345702124 | MYT1L | c.1501G>A (p.Glu501Lys) c.996G>A c.1002G>A c.1507G>A (p.Glu503Lys) c.529G>A (p.Glu177Lys) c.24G>A c.506-25029G>A (n.506-25029G>A) c.250G>A (p.Glu84Lys) c.1444G>A (p.Glu482Lys) c.302G>A c.722G>A c.701G>A c.1477+4976G>A (n.1477+4976G>A) c.22G>A (p.Glu8Lys) c.*944G>A (n.*944G>A) c.410-25029G>A (n.410-25029G>A) c.1504G>A (p.Glu502Lys) c.469G>A (p.Glu157Lys) c.1213G>A (p.Glu405Lys) | |
2 | g.1917317T>A | CA345702126 | MYT1L | c.1500A>T (p.Lys500Asn) c.995A>T c.1001A>T c.1506A>T (p.Lys502Asn) c.528A>T (p.Lys176Asn) c.23A>T c.506-25030A>T (n.506-25030A>T) c.249A>T (p.Lys83Asn) c.1443A>T (p.Lys481Asn) c.301A>T c.721A>T c.700A>T c.1477+4975A>T (n.1477+4975A>T) c.21A>T (p.Lys7Asn) c.*943A>T (n.*943A>T) c.410-25030A>T (n.410-25030A>T) c.1503A>T (p.Lys501Asn) c.468A>T (p.Lys156Asn) c.1212A>T (p.Lys404Asn) | |
2 | g.1917317T>C | CA424516964 | MYT1L | c.1500A>G (p.Lys500=) c.995A>G c.1001A>G c.1506A>G (p.Lys502=) c.528A>G (p.Lys176=) c.23A>G c.506-25030A>G (n.506-25030A>G) c.249A>G (p.Lys83=) c.1443A>G (p.Lys481=) c.301A>G c.721A>G c.700A>G c.1477+4975A>G (n.1477+4975A>G) c.21A>G (p.Lys7=) c.*943A>G (n.*943A>G) c.410-25030A>G (n.410-25030A>G) c.1503A>G (p.Lys501=) c.468A>G (p.Lys156=) c.1212A>G (p.Lys404=) | |
2 | g.1917317T>G | CA345702128 | MYT1L | c.1500A>C (p.Lys500Asn) c.995A>C c.1001A>C c.1506A>C (p.Lys502Asn) c.528A>C (p.Lys176Asn) c.23A>C c.506-25030A>C (n.506-25030A>C) c.249A>C (p.Lys83Asn) c.1443A>C (p.Lys481Asn) c.301A>C c.721A>C c.700A>C c.1477+4975A>C (n.1477+4975A>C) c.21A>C (p.Lys7Asn) c.*943A>C (n.*943A>C) c.410-25030A>C (n.410-25030A>C) c.1503A>C (p.Lys501Asn) c.468A>C (p.Lys156Asn) c.1212A>C (p.Lys404Asn) | |
2 | g.1917318T>A | CA345702130 | MYT1L | c.1499A>T (p.Lys500Ile) c.994A>T c.1000A>T c.1505A>T (p.Lys502Ile) c.527A>T (p.Lys176Ile) c.22A>T c.506-25031A>T (n.506-25031A>T) c.248A>T (p.Lys83Ile) c.1442A>T (p.Lys481Ile) c.300A>T c.720A>T c.699A>T c.1477+4974A>T (n.1477+4974A>T) c.20A>T (p.Lys7Ile) c.*942A>T (n.*942A>T) c.410-25031A>T (n.410-25031A>T) c.1502A>T (p.Lys501Ile) c.467A>T (p.Lys156Ile) c.1211A>T (p.Lys404Ile) | |
2 | g.1917318T>C | CA345702131 | MYT1L | c.1499A>G (p.Lys500Arg) c.994A>G c.1000A>G c.1505A>G (p.Lys502Arg) c.527A>G (p.Lys176Arg) c.22A>G c.506-25031A>G (n.506-25031A>G) c.248A>G (p.Lys83Arg) c.1442A>G (p.Lys481Arg) c.300A>G c.720A>G c.699A>G c.1477+4974A>G (n.1477+4974A>G) c.20A>G (p.Lys7Arg) c.*942A>G (n.*942A>G) c.410-25031A>G (n.410-25031A>G) c.1502A>G (p.Lys501Arg) c.467A>G (p.Lys156Arg) c.1211A>G (p.Lys404Arg) | gnomAD v4 |
2 | g.1917318T>G | CA345702133 | MYT1L | c.1499A>C (p.Lys500Thr) c.994A>C c.1000A>C c.1505A>C (p.Lys502Thr) c.527A>C (p.Lys176Thr) c.22A>C c.506-25031A>C (n.506-25031A>C) c.248A>C (p.Lys83Thr) c.1442A>C (p.Lys481Thr) c.300A>C c.720A>C c.699A>C c.1477+4974A>C (n.1477+4974A>C) c.20A>C (p.Lys7Thr) c.*942A>C (n.*942A>C) c.410-25031A>C (n.410-25031A>C) c.1502A>C (p.Lys501Thr) c.467A>C (p.Lys156Thr) c.1211A>C (p.Lys404Thr) | |
2 | g.1917319T>A | CA345702134 | MYT1L | c.1498A>T (p.Lys500Ter) c.993A>T c.999A>T c.1504A>T (p.Lys502Ter) c.526A>T (p.Lys176Ter) c.21A>T c.506-25032A>T (n.506-25032A>T) c.247A>T (p.Lys83Ter) c.1441A>T (p.Lys481Ter) c.299A>T c.719A>T c.698A>T c.1477+4973A>T (n.1477+4973A>T) c.19A>T (p.Lys7Ter) c.*941A>T (n.*941A>T) c.410-25032A>T (n.410-25032A>T) c.1501A>T (p.Lys501Ter) c.466A>T (p.Lys156Ter) c.1210A>T (p.Lys404Ter) | |
2 | g.1917319T>C | CA345702135 | MYT1L | c.1498A>G (p.Lys500Glu) c.993A>G c.999A>G c.1504A>G (p.Lys502Glu) c.526A>G (p.Lys176Glu) c.21A>G c.506-25032A>G (n.506-25032A>G) c.247A>G (p.Lys83Glu) c.1441A>G (p.Lys481Glu) c.299A>G c.719A>G c.698A>G c.1477+4973A>G (n.1477+4973A>G) c.19A>G (p.Lys7Glu) c.*941A>G (n.*941A>G) c.410-25032A>G (n.410-25032A>G) c.1501A>G (p.Lys501Glu) c.466A>G (p.Lys156Glu) c.1210A>G (p.Lys404Glu) | |
2 | g.1917319T>G | CA345702137 | MYT1L | c.1498A>C (p.Lys500Gln) c.993A>C c.999A>C c.1504A>C (p.Lys502Gln) c.526A>C (p.Lys176Gln) c.21A>C c.506-25032A>C (n.506-25032A>C) c.247A>C (p.Lys83Gln) c.1441A>C (p.Lys481Gln) c.299A>C c.719A>C c.698A>C c.1477+4973A>C (n.1477+4973A>C) c.19A>C (p.Lys7Gln) c.*941A>C (n.*941A>C) c.410-25032A>C (n.410-25032A>C) c.1501A>C (p.Lys501Gln) c.466A>C (p.Lys156Gln) c.1210A>C (p.Lys404Gln) | |
2 | g.1917320C>A | CA345702141 | MYT1L | c.1497G>T (p.Lys499Asn) c.992G>T c.998G>T c.1503G>T (p.Lys501Asn) c.525G>T (p.Lys175Asn) c.20G>T c.506-25033G>T (n.506-25033G>T) c.246G>T (p.Lys82Asn) c.1440G>T (p.Lys480Asn) c.298G>T c.718G>T c.697G>T c.1477+4972G>T (n.1477+4972G>T) c.18G>T (p.Lys6Asn) c.*940G>T (n.*940G>T) c.410-25033G>T (n.410-25033G>T) c.1500G>T (p.Lys500Asn) c.465G>T (p.Lys155Asn) c.1209G>T (p.Lys403Asn) | COSMIC COSMIC |
2 | g.1917320C>G | CA345702139 | MYT1L | c.1497G>C (p.Lys499Asn) c.992G>C c.998G>C c.1503G>C (p.Lys501Asn) c.525G>C (p.Lys175Asn) c.20G>C c.506-25033G>C (n.506-25033G>C) c.246G>C (p.Lys82Asn) c.1440G>C (p.Lys480Asn) c.298G>C c.718G>C c.697G>C c.1477+4972G>C (n.1477+4972G>C) c.18G>C (p.Lys6Asn) c.*940G>C (n.*940G>C) c.410-25033G>C (n.410-25033G>C) c.1500G>C (p.Lys500Asn) c.465G>C (p.Lys155Asn) c.1209G>C (p.Lys403Asn) | |
2 | g.1917320C>T | CA424516965 | MYT1L | c.1497G>A (p.Lys499=) c.992G>A c.998G>A c.1503G>A (p.Lys501=) c.525G>A (p.Lys175=) c.20G>A c.506-25033G>A (n.506-25033G>A) c.246G>A (p.Lys82=) c.1440G>A (p.Lys480=) c.298G>A c.718G>A c.697G>A c.1477+4972G>A (n.1477+4972G>A) c.18G>A (p.Lys6=) c.*940G>A (n.*940G>A) c.410-25033G>A (n.410-25033G>A) c.1500G>A (p.Lys500=) c.465G>A (p.Lys155=) c.1209G>A (p.Lys403=) | |
2 | g.1917321T>A | CA345702143 | MYT1L | c.1496A>T (p.Lys499Met) c.991A>T c.997A>T c.1502A>T (p.Lys501Met) c.524A>T (p.Lys175Met) c.19A>T c.506-25034A>T (n.506-25034A>T) c.245A>T (p.Lys82Met) c.1439A>T (p.Lys480Met) c.297A>T c.717A>T c.696A>T c.1477+4971A>T (n.1477+4971A>T) c.17A>T (p.Lys6Met) c.*939A>T (n.*939A>T) c.410-25034A>T (n.410-25034A>T) c.1499A>T (p.Lys500Met) c.464A>T (p.Lys155Met) c.1208A>T (p.Lys403Met) | |
2 | g.1917321T>C | CA345702144 | MYT1L | c.1496A>G (p.Lys499Arg) c.991A>G c.997A>G c.1502A>G (p.Lys501Arg) c.524A>G (p.Lys175Arg) c.19A>G c.506-25034A>G (n.506-25034A>G) c.245A>G (p.Lys82Arg) c.1439A>G (p.Lys480Arg) c.297A>G c.717A>G c.696A>G c.1477+4971A>G (n.1477+4971A>G) c.17A>G (p.Lys6Arg) c.*939A>G (n.*939A>G) c.410-25034A>G (n.410-25034A>G) c.1499A>G (p.Lys500Arg) c.464A>G (p.Lys155Arg) c.1208A>G (p.Lys403Arg) | |
2 | g.1917321T>G | CA345702145 | MYT1L | c.1496A>C (p.Lys499Thr) c.991A>C c.997A>C c.1502A>C (p.Lys501Thr) c.524A>C (p.Lys175Thr) c.19A>C c.506-25034A>C (n.506-25034A>C) c.245A>C (p.Lys82Thr) c.1439A>C (p.Lys480Thr) c.297A>C c.717A>C c.696A>C c.1477+4971A>C (n.1477+4971A>C) c.17A>C (p.Lys6Thr) c.*939A>C (n.*939A>C) c.410-25034A>C (n.410-25034A>C) c.1499A>C (p.Lys500Thr) c.464A>C (p.Lys155Thr) c.1208A>C (p.Lys403Thr) | gnomAD v4 |
2 | g.1917322T>A | CA345702147 | MYT1L | c.1495A>T (p.Lys499Ter) c.990A>T c.996A>T c.1501A>T (p.Lys501Ter) c.523A>T (p.Lys175Ter) c.18A>T c.506-25035A>T (n.506-25035A>T) c.244A>T (p.Lys82Ter) c.1438A>T (p.Lys480Ter) c.296A>T c.716A>T c.695A>T c.1477+4970A>T (n.1477+4970A>T) c.16A>T (p.Lys6Ter) c.*938A>T (n.*938A>T) c.410-25035A>T (n.410-25035A>T) c.1498A>T (p.Lys500Ter) c.463A>T (p.Lys155Ter) c.1207A>T (p.Lys403Ter) | |
2 | g.1917322T>C | CA345702148 | MYT1L | c.1495A>G (p.Lys499Glu) c.990A>G c.996A>G c.1501A>G (p.Lys501Glu) c.523A>G (p.Lys175Glu) c.18A>G c.506-25035A>G (n.506-25035A>G) c.244A>G (p.Lys82Glu) c.1438A>G (p.Lys480Glu) c.296A>G c.716A>G c.695A>G c.1477+4970A>G (n.1477+4970A>G) c.16A>G (p.Lys6Glu) c.*938A>G (n.*938A>G) c.410-25035A>G (n.410-25035A>G) c.1498A>G (p.Lys500Glu) c.463A>G (p.Lys155Glu) c.1207A>G (p.Lys403Glu) | |
2 | g.1917322T>G | CA345702150 | MYT1L | c.1495A>C (p.Lys499Gln) c.990A>C c.996A>C c.1501A>C (p.Lys501Gln) c.523A>C (p.Lys175Gln) c.18A>C c.506-25035A>C (n.506-25035A>C) c.244A>C (p.Lys82Gln) c.1438A>C (p.Lys480Gln) c.296A>C c.716A>C c.695A>C c.1477+4970A>C (n.1477+4970A>C) c.16A>C (p.Lys6Gln) c.*938A>C (n.*938A>C) c.410-25035A>C (n.410-25035A>C) c.1498A>C (p.Lys500Gln) c.463A>C (p.Lys155Gln) c.1207A>C (p.Lys403Gln) | |
2 | g.1917323T>A | CA345702153 | MYT1L | c.1494A>T (p.Glu498Asp) c.989A>T c.995A>T c.1500A>T (p.Glu500Asp) c.522A>T (p.Glu174Asp) c.17A>T c.506-25036A>T (n.506-25036A>T) c.243A>T (p.Glu81Asp) c.1437A>T (p.Glu479Asp) c.295A>T c.715A>T c.694A>T c.1477+4969A>T (n.1477+4969A>T) c.15A>T (p.Glu5Asp) c.*937A>T (n.*937A>T) c.410-25036A>T (n.410-25036A>T) c.1497A>T (p.Glu499Asp) c.462A>T (p.Glu154Asp) c.1206A>T (p.Glu402Asp) | |
2 | g.1917323T>C | CA424516966 | MYT1L | c.1494A>G (p.Glu498=) c.989A>G c.995A>G c.1500A>G (p.Glu500=) c.522A>G (p.Glu174=) c.17A>G c.506-25036A>G (n.506-25036A>G) c.243A>G (p.Glu81=) c.1437A>G (p.Glu479=) c.295A>G c.715A>G c.694A>G c.1477+4969A>G (n.1477+4969A>G) c.15A>G (p.Glu5=) c.*937A>G (n.*937A>G) c.410-25036A>G (n.410-25036A>G) c.1497A>G (p.Glu499=) c.462A>G (p.Glu154=) c.1206A>G (p.Glu402=) | |
2 | g.1917323T>G | CA345702152 | MYT1L | c.1494A>C (p.Glu498Asp) c.989A>C c.995A>C c.1500A>C (p.Glu500Asp) c.522A>C (p.Glu174Asp) c.17A>C c.506-25036A>C (n.506-25036A>C) c.243A>C (p.Glu81Asp) c.1437A>C (p.Glu479Asp) c.295A>C c.715A>C c.694A>C c.1477+4969A>C (n.1477+4969A>C) c.15A>C (p.Glu5Asp) c.*937A>C (n.*937A>C) c.410-25036A>C (n.410-25036A>C) c.1497A>C (p.Glu499Asp) c.462A>C (p.Glu154Asp) c.1206A>C (p.Glu402Asp) | |
2 | g.1917324T>A | CA345702154 | MYT1L | c.1493A>T (p.Glu498Val) c.988A>T c.994A>T c.1499A>T (p.Glu500Val) c.521A>T (p.Glu174Val) c.16A>T c.506-25037A>T (n.506-25037A>T) c.242A>T (p.Glu81Val) c.1436A>T (p.Glu479Val) c.294A>T c.714A>T c.693A>T c.1477+4968A>T (n.1477+4968A>T) c.14A>T (p.Glu5Val) c.*936A>T (n.*936A>T) c.410-25037A>T (n.410-25037A>T) c.1496A>T (p.Glu499Val) c.461A>T (p.Glu154Val) c.1205A>T (p.Glu402Val) | |
2 | g.1917324T>C | CA345702155 | MYT1L | c.1493A>G (p.Glu498Gly) c.988A>G c.994A>G c.1499A>G (p.Glu500Gly) c.521A>G (p.Glu174Gly) c.16A>G c.506-25037A>G (n.506-25037A>G) c.242A>G (p.Glu81Gly) c.1436A>G (p.Glu479Gly) c.294A>G c.714A>G c.693A>G c.1477+4968A>G (n.1477+4968A>G) c.14A>G (p.Glu5Gly) c.*936A>G (n.*936A>G) c.410-25037A>G (n.410-25037A>G) c.1496A>G (p.Glu499Gly) c.461A>G (p.Glu154Gly) c.1205A>G (p.Glu402Gly) | |
2 | g.1917324T>G | CA345702156 | MYT1L | c.1493A>C (p.Glu498Ala) c.988A>C c.994A>C c.1499A>C (p.Glu500Ala) c.521A>C (p.Glu174Ala) c.16A>C c.506-25037A>C (n.506-25037A>C) c.242A>C (p.Glu81Ala) c.1436A>C (p.Glu479Ala) c.294A>C c.714A>C c.693A>C c.1477+4968A>C (n.1477+4968A>C) c.14A>C (p.Glu5Ala) c.*936A>C (n.*936A>C) c.410-25037A>C (n.410-25037A>C) c.1496A>C (p.Glu499Ala) c.461A>C (p.Glu154Ala) c.1205A>C (p.Glu402Ala) | |
2 | g.1917325C>A | CA345702157 | MYT1L | c.1492G>T (p.Glu498Ter) c.987G>T c.993G>T c.1498G>T (p.Glu500Ter) c.520G>T (p.Glu174Ter) c.15G>T c.506-25038G>T (n.506-25038G>T) c.241G>T (p.Glu81Ter) c.1435G>T (p.Glu479Ter) c.293G>T c.713G>T c.692G>T c.1477+4967G>T (n.1477+4967G>T) c.13G>T (p.Glu5Ter) c.*935G>T (n.*935G>T) c.410-25038G>T (n.410-25038G>T) c.1495G>T (p.Glu499Ter) c.460G>T (p.Glu154Ter) c.1204G>T (p.Glu402Ter) | |
2 | g.1917325C= | CA1233801040 | MYT1L | c.1492G= (p.Glu498=) c.987G= c.993G= c.1498G= (p.Glu500=) c.520G= (p.Glu174=) c.15G= c.506-25038G= (n.506-25038G=) c.241G= (p.Glu81=) c.1435G= (p.Glu479=) c.293G= c.713G= c.692G= c.1477+4967G= (n.1477+4967G=) c.13G= (p.Glu5=) c.*935G= (n.*935G=) c.410-25038G= (n.410-25038G=) c.1495G= (p.Glu499=) c.460G= (p.Glu154=) c.1204G= (p.Glu402=) | |
2 | g.1917325C>G | CA345702158 | MYT1L | c.1492G>C (p.Glu498Gln) c.987G>C c.993G>C c.1498G>C (p.Glu500Gln) c.520G>C (p.Glu174Gln) c.15G>C c.506-25038G>C (n.506-25038G>C) c.241G>C (p.Glu81Gln) c.1435G>C (p.Glu479Gln) c.293G>C c.713G>C c.692G>C c.1477+4967G>C (n.1477+4967G>C) c.13G>C (p.Glu5Gln) c.*935G>C (n.*935G>C) c.410-25038G>C (n.410-25038G>C) c.1495G>C (p.Glu499Gln) c.460G>C (p.Glu154Gln) c.1204G>C (p.Glu402Gln) | |
2 | g.1917325C>T | CA345702160 | MYT1L | c.1492G>A (p.Glu498Lys) c.987G>A c.993G>A c.1498G>A (p.Glu500Lys) c.520G>A (p.Glu174Lys) c.15G>A c.506-25038G>A (n.506-25038G>A) c.241G>A (p.Glu81Lys) c.1435G>A (p.Glu479Lys) c.293G>A c.713G>A c.692G>A c.1477+4967G>A (n.1477+4967G>A) c.13G>A (p.Glu5Lys) c.*935G>A (n.*935G>A) c.410-25038G>A (n.410-25038G>A) c.1495G>A (p.Glu499Lys) c.460G>A (p.Glu154Lys) c.1204G>A (p.Glu402Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.1917326T>A | CA424516969 | MYT1L | c.1491A>T (p.Thr497=) c.986A>T c.992A>T c.1497A>T (p.Thr499=) c.519A>T (p.Thr173=) c.14A>T c.506-25039A>T (n.506-25039A>T) c.240A>T (p.Thr80=) c.1434A>T (p.Thr478=) c.292A>T c.712A>T c.691A>T c.1477+4966A>T (n.1477+4966A>T) c.12A>T (p.Thr4=) c.*934A>T (n.*934A>T) c.410-25039A>T (n.410-25039A>T) c.1494A>T (p.Thr498=) c.459A>T (p.Thr153=) c.1203A>T (p.Thr401=) | |
2 | g.1917326T>C | CA424516967 | MYT1L | c.1491A>G (p.Thr497=) c.986A>G c.992A>G c.1497A>G (p.Thr499=) c.519A>G (p.Thr173=) c.14A>G c.506-25039A>G (n.506-25039A>G) c.240A>G (p.Thr80=) c.1434A>G (p.Thr478=) c.292A>G c.712A>G c.691A>G c.1477+4966A>G (n.1477+4966A>G) c.12A>G (p.Thr4=) c.*934A>G (n.*934A>G) c.410-25039A>G (n.410-25039A>G) c.1494A>G (p.Thr498=) c.459A>G (p.Thr153=) c.1203A>G (p.Thr401=) | |
2 | g.1917326T>G | CA424516968 | MYT1L | c.1491A>C (p.Thr497=) c.986A>C c.992A>C c.1497A>C (p.Thr499=) c.519A>C (p.Thr173=) c.14A>C c.506-25039A>C (n.506-25039A>C) c.240A>C (p.Thr80=) c.1434A>C (p.Thr478=) c.292A>C c.712A>C c.691A>C c.1477+4966A>C (n.1477+4966A>C) c.12A>C (p.Thr4=) c.*934A>C (n.*934A>C) c.410-25039A>C (n.410-25039A>C) c.1494A>C (p.Thr498=) c.459A>C (p.Thr153=) c.1203A>C (p.Thr401=) | |
2 | g.1917327G>A | CA345702162 | MYT1L | c.1490C>T (p.Thr497Ile) c.985C>T c.991C>T c.1496C>T (p.Thr499Ile) c.518C>T (p.Thr173Ile) c.13C>T c.506-25040C>T (n.506-25040C>T) c.239C>T (p.Thr80Ile) c.1433C>T (p.Thr478Ile) c.291C>T c.711C>T c.690C>T c.1477+4965C>T (n.1477+4965C>T) c.11C>T (p.Thr4Ile) c.*933C>T (n.*933C>T) c.410-25040C>T (n.410-25040C>T) c.1493C>T (p.Thr498Ile) c.458C>T (p.Thr153Ile) c.1202C>T (p.Thr401Ile) | gnomAD v4 |
2 | g.1917327G>C | CA345702165 | MYT1L | c.1490C>G (p.Thr497Arg) c.985C>G c.991C>G c.1496C>G (p.Thr499Arg) c.518C>G (p.Thr173Arg) c.13C>G c.506-25040C>G (n.506-25040C>G) c.239C>G (p.Thr80Arg) c.1433C>G (p.Thr478Arg) c.291C>G c.711C>G c.690C>G c.1477+4965C>G (n.1477+4965C>G) c.11C>G (p.Thr4Arg) c.*933C>G (n.*933C>G) c.410-25040C>G (n.410-25040C>G) c.1493C>G (p.Thr498Arg) c.458C>G (p.Thr153Arg) c.1202C>G (p.Thr401Arg) | gnomAD v4 |
2 | g.1917327G>T | CA345702163 | MYT1L | c.1490C>A (p.Thr497Lys) c.985C>A c.991C>A c.1496C>A (p.Thr499Lys) c.518C>A (p.Thr173Lys) c.13C>A c.506-25040C>A (n.506-25040C>A) c.239C>A (p.Thr80Lys) c.1433C>A (p.Thr478Lys) c.291C>A c.711C>A c.690C>A c.1477+4965C>A (n.1477+4965C>A) c.11C>A (p.Thr4Lys) c.*933C>A (n.*933C>A) c.410-25040C>A (n.410-25040C>A) c.1493C>A (p.Thr498Lys) c.458C>A (p.Thr153Lys) c.1202C>A (p.Thr401Lys) | |
2 | g.1917328T>A | CA345702167 | MYT1L | c.1489A>T (p.Thr497Ser) c.984A>T c.990A>T c.1495A>T (p.Thr499Ser) c.517A>T (p.Thr173Ser) c.12A>T c.506-25041A>T (n.506-25041A>T) c.238A>T (p.Thr80Ser) c.1432A>T (p.Thr478Ser) c.290A>T c.710A>T c.689A>T c.1477+4964A>T (n.1477+4964A>T) c.10A>T (p.Thr4Ser) c.*932A>T (n.*932A>T) c.410-25041A>T (n.410-25041A>T) c.1492A>T (p.Thr498Ser) c.457A>T (p.Thr153Ser) c.1201A>T (p.Thr401Ser) | |
2 | g.1917328T>C | CA345702168 | MYT1L | c.1489A>G (p.Thr497Ala) c.984A>G c.990A>G c.1495A>G (p.Thr499Ala) c.517A>G (p.Thr173Ala) c.12A>G c.506-25041A>G (n.506-25041A>G) c.238A>G (p.Thr80Ala) c.1432A>G (p.Thr478Ala) c.290A>G c.710A>G c.689A>G c.1477+4964A>G (n.1477+4964A>G) c.10A>G (p.Thr4Ala) c.*932A>G (n.*932A>G) c.410-25041A>G (n.410-25041A>G) c.1492A>G (p.Thr498Ala) c.457A>G (p.Thr153Ala) c.1201A>G (p.Thr401Ala) | |
2 | g.1917328T>G | CA345702169 | MYT1L | c.1489A>C (p.Thr497Pro) c.984A>C c.990A>C c.1495A>C (p.Thr499Pro) c.517A>C (p.Thr173Pro) c.12A>C c.506-25041A>C (n.506-25041A>C) c.238A>C (p.Thr80Pro) c.1432A>C (p.Thr478Pro) c.290A>C c.710A>C c.689A>C c.1477+4964A>C (n.1477+4964A>C) c.10A>C (p.Thr4Pro) c.*932A>C (n.*932A>C) c.410-25041A>C (n.410-25041A>C) c.1492A>C (p.Thr498Pro) c.457A>C (p.Thr153Pro) c.1201A>C (p.Thr401Pro) | |
2 | g.1917329T>A | CA345702170 | MYT1L | c.1488A>T (p.Arg496Ser) c.983A>T c.989A>T c.1494A>T (p.Arg498Ser) c.516A>T (p.Arg172Ser) c.11A>T c.506-25042A>T (n.506-25042A>T) c.237A>T (p.Arg79Ser) c.1431A>T (p.Arg477Ser) c.289A>T c.709A>T c.688A>T c.1477+4963A>T (n.1477+4963A>T) c.9A>T (p.Arg3Ser) c.*931A>T (n.*931A>T) c.410-25042A>T (n.410-25042A>T) c.1491A>T (p.Arg497Ser) c.456A>T (p.Arg152Ser) c.1200A>T (p.Arg400Ser) | |
2 | g.1917329T>C | CA424516970 | MYT1L | c.1488A>G (p.Arg496=) c.983A>G c.989A>G c.1494A>G (p.Arg498=) c.516A>G (p.Arg172=) c.11A>G c.506-25042A>G (n.506-25042A>G) c.237A>G (p.Arg79=) c.1431A>G (p.Arg477=) c.289A>G c.709A>G c.688A>G c.1477+4963A>G (n.1477+4963A>G) c.9A>G (p.Arg3=) c.*931A>G (n.*931A>G) c.410-25042A>G (n.410-25042A>G) c.1491A>G (p.Arg497=) c.456A>G (p.Arg152=) c.1200A>G (p.Arg400=) | |
2 | g.1917329T>G | CA345702171 | MYT1L | c.1488A>C (p.Arg496Ser) c.983A>C c.989A>C c.1494A>C (p.Arg498Ser) c.516A>C (p.Arg172Ser) c.11A>C c.506-25042A>C (n.506-25042A>C) c.237A>C (p.Arg79Ser) c.1431A>C (p.Arg477Ser) c.289A>C c.709A>C c.688A>C c.1477+4963A>C (n.1477+4963A>C) c.9A>C (p.Arg3Ser) c.*931A>C (n.*931A>C) c.410-25042A>C (n.410-25042A>C) c.1491A>C (p.Arg497Ser) c.456A>C (p.Arg152Ser) c.1200A>C (p.Arg400Ser) | |
2 | g.1917330C>A | CA345702173 | MYT1L | c.1487G>T (p.Arg496Ile) c.982G>T c.988G>T c.1493G>T (p.Arg498Ile) c.515G>T (p.Arg172Ile) c.10G>T c.506-25043G>T (n.506-25043G>T) c.236G>T (p.Arg79Ile) c.1430G>T (p.Arg477Ile) c.288G>T c.708G>T c.687G>T c.1477+4962G>T (n.1477+4962G>T) c.8G>T (p.Arg3Ile) c.*930G>T (n.*930G>T) c.410-25043G>T (n.410-25043G>T) c.1490G>T (p.Arg497Ile) c.455G>T (p.Arg152Ile) c.1199G>T (p.Arg400Ile) | |
2 | g.1917330C>G | CA345702176 | MYT1L | c.1487G>C (p.Arg496Thr) c.982G>C c.988G>C c.1493G>C (p.Arg498Thr) c.515G>C (p.Arg172Thr) c.10G>C c.506-25043G>C (n.506-25043G>C) c.236G>C (p.Arg79Thr) c.1430G>C (p.Arg477Thr) c.288G>C c.708G>C c.687G>C c.1477+4962G>C (n.1477+4962G>C) c.8G>C (p.Arg3Thr) c.*930G>C (n.*930G>C) c.410-25043G>C (n.410-25043G>C) c.1490G>C (p.Arg497Thr) c.455G>C (p.Arg152Thr) c.1199G>C (p.Arg400Thr) | |
2 | g.1917330C>T | CA345702177 | MYT1L | c.1487G>A (p.Arg496Lys) c.982G>A c.988G>A c.1493G>A (p.Arg498Lys) c.515G>A (p.Arg172Lys) c.10G>A c.506-25043G>A (n.506-25043G>A) c.236G>A (p.Arg79Lys) c.1430G>A (p.Arg477Lys) c.288G>A c.708G>A c.687G>A c.1477+4962G>A (n.1477+4962G>A) c.8G>A (p.Arg3Lys) c.*930G>A (n.*930G>A) c.410-25043G>A (n.410-25043G>A) c.1490G>A (p.Arg497Lys) c.455G>A (p.Arg152Lys) c.1199G>A (p.Arg400Lys) | COSMIC COSMIC |
2 | g.1917331T>A | CA345702179 | MYT1L | c.1486A>T (p.Arg496Ter) c.981A>T c.987A>T c.1492A>T (p.Arg498Ter) c.514A>T (p.Arg172Ter) c.9A>T c.506-25044A>T (n.506-25044A>T) c.235A>T (p.Arg79Ter) c.1429A>T (p.Arg477Ter) c.287A>T c.707A>T c.686A>T c.1477+4961A>T (n.1477+4961A>T) c.7A>T (p.Arg3Ter) c.*929A>T (n.*929A>T) c.410-25044A>T (n.410-25044A>T) c.1489A>T (p.Arg497Ter) c.454A>T (p.Arg152Ter) c.1198A>T (p.Arg400Ter) | |
2 | g.1917331T>C | CA345702181 | MYT1L | c.1486A>G (p.Arg496Gly) c.981A>G c.987A>G c.1492A>G (p.Arg498Gly) c.514A>G (p.Arg172Gly) c.9A>G c.506-25044A>G (n.506-25044A>G) c.235A>G (p.Arg79Gly) c.1429A>G (p.Arg477Gly) c.287A>G c.707A>G c.686A>G c.1477+4961A>G (n.1477+4961A>G) c.7A>G (p.Arg3Gly) c.*929A>G (n.*929A>G) c.410-25044A>G (n.410-25044A>G) c.1489A>G (p.Arg497Gly) c.454A>G (p.Arg152Gly) c.1198A>G (p.Arg400Gly) | dbSNP |
2 | g.1917331T>G | CA424516971 | MYT1L | c.1486A>C (p.Arg496=) c.981A>C c.987A>C c.1492A>C (p.Arg498=) c.514A>C (p.Arg172=) c.9A>C c.506-25044A>C (n.506-25044A>C) c.235A>C (p.Arg79=) c.1429A>C (p.Arg477=) c.287A>C c.707A>C c.686A>C c.1477+4961A>C (n.1477+4961A>C) c.7A>C (p.Arg3=) c.*929A>C (n.*929A>C) c.410-25044A>C (n.410-25044A>C) c.1489A>C (p.Arg497=) c.454A>C (p.Arg152=) c.1198A>C (p.Arg400=) | |
2 | g.1917331T= | CA1233801041 | MYT1L | c.1486A= (p.Arg496=) c.981A= c.987A= c.1492A= (p.Arg498=) c.514A= (p.Arg172=) c.9A= c.506-25044A= (n.506-25044A=) c.235A= (p.Arg79=) c.1429A= (p.Arg477=) c.287A= c.707A= c.686A= c.1477+4961A= (n.1477+4961A=) c.7A= (p.Arg3=) c.*929A= (n.*929A=) c.410-25044A= (n.410-25044A=) c.1489A= (p.Arg497=) c.454A= (p.Arg152=) c.1198A= (p.Arg400=) | |
2 | g.1917332T>A | CA424516974 | MYT1L | c.1485A>T (p.Ser495=) c.980A>T c.986A>T c.1491A>T (p.Ser497=) c.513A>T (p.Ser171=) c.8A>T c.506-25045A>T (n.506-25045A>T) c.234A>T (p.Ser78=) c.1428A>T (p.Ser476=) c.286A>T c.706A>T c.685A>T c.1477+4960A>T (n.1477+4960A>T) c.6A>T (p.Ser2=) c.*928A>T (n.*928A>T) c.410-25045A>T (n.410-25045A>T) c.1488A>T (p.Ser496=) c.453A>T (p.Ser151=) c.1197A>T (p.Ser399=) | |
2 | g.1917332T>C | CA424516972 | MYT1L | c.1485A>G (p.Ser495=) c.980A>G c.986A>G c.1491A>G (p.Ser497=) c.513A>G (p.Ser171=) c.8A>G c.506-25045A>G (n.506-25045A>G) c.234A>G (p.Ser78=) c.1428A>G (p.Ser476=) c.286A>G c.706A>G c.685A>G c.1477+4960A>G (n.1477+4960A>G) c.6A>G (p.Ser2=) c.*928A>G (n.*928A>G) c.410-25045A>G (n.410-25045A>G) c.1488A>G (p.Ser496=) c.453A>G (p.Ser151=) c.1197A>G (p.Ser399=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.1917332T>G | CA424516973 | MYT1L | c.1485A>C (p.Ser495=) c.980A>C c.986A>C c.1491A>C (p.Ser497=) c.513A>C (p.Ser171=) c.8A>C c.506-25045A>C (n.506-25045A>C) c.234A>C (p.Ser78=) c.1428A>C (p.Ser476=) c.286A>C c.706A>C c.685A>C c.1477+4960A>C (n.1477+4960A>C) c.6A>C (p.Ser2=) c.*928A>C (n.*928A>C) c.410-25045A>C (n.410-25045A>C) c.1488A>C (p.Ser496=) c.453A>C (p.Ser151=) c.1197A>C (p.Ser399=) | |
2 | g.1917332T= | CA1233801042 | MYT1L | c.1485A= (p.Ser495=) c.980A= c.986A= c.1491A= (p.Ser497=) c.513A= (p.Ser171=) c.8A= c.506-25045A= (n.506-25045A=) c.234A= (p.Ser78=) c.1428A= (p.Ser476=) c.286A= c.706A= c.685A= c.1477+4960A= (n.1477+4960A=) c.6A= (p.Ser2=) c.*928A= (n.*928A=) c.410-25045A= (n.410-25045A=) c.1488A= (p.Ser496=) c.453A= (p.Ser151=) c.1197A= (p.Ser399=) | |
2 | g.1917333G>A | CA1514221 | MYT1L | c.1484C>T (p.Ser495Leu) c.979C>T c.985C>T c.1490C>T (p.Ser497Leu) c.512C>T (p.Ser171Leu) c.7C>T c.506-25046C>T (n.506-25046C>T) c.233C>T (p.Ser78Leu) c.1427C>T (p.Ser476Leu) c.285C>T c.705C>T c.684C>T c.1477+4959C>T (n.1477+4959C>T) c.5C>T (p.Ser2Leu) c.*927C>T (n.*927C>T) c.410-25046C>T (n.410-25046C>T) c.1487C>T (p.Ser496Leu) c.452C>T (p.Ser151Leu) c.1196C>T (p.Ser399Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.1917333G>C | CA345702183 | MYT1L | c.1484C>G (p.Ser495Ter) c.979C>G c.985C>G c.1490C>G (p.Ser497Ter) c.512C>G (p.Ser171Ter) c.7C>G c.506-25046C>G (n.506-25046C>G) c.233C>G (p.Ser78Ter) c.1427C>G (p.Ser476Ter) c.285C>G c.705C>G c.684C>G c.1477+4959C>G (n.1477+4959C>G) c.5C>G (p.Ser2Ter) c.*927C>G (n.*927C>G) c.410-25046C>G (n.410-25046C>G) c.1487C>G (p.Ser496Ter) c.452C>G (p.Ser151Ter) c.1196C>G (p.Ser399Ter) | |
2 | g.1917333G= | CA1233801043 | MYT1L | c.1484C= (p.Ser495=) c.979C= c.985C= c.1490C= (p.Ser497=) c.512C= (p.Ser171=) c.7C= c.506-25046C= (n.506-25046C=) c.233C= (p.Ser78=) c.1427C= (p.Ser476=) c.285C= c.705C= c.684C= c.1477+4959C= (n.1477+4959C=) c.5C= (p.Ser2=) c.*927C= (n.*927C=) c.410-25046C= (n.410-25046C=) c.1487C= (p.Ser496=) c.452C= (p.Ser151=) c.1196C= (p.Ser399=) | |
2 | g.1917333G>T | CA345702184 | MYT1L | c.1484C>A (p.Ser495Ter) c.979C>A c.985C>A c.1490C>A (p.Ser497Ter) c.512C>A (p.Ser171Ter) c.7C>A c.506-25046C>A (n.506-25046C>A) c.233C>A (p.Ser78Ter) c.1427C>A (p.Ser476Ter) c.285C>A c.705C>A c.684C>A c.1477+4959C>A (n.1477+4959C>A) c.5C>A (p.Ser2Ter) c.*927C>A (n.*927C>A) c.410-25046C>A (n.410-25046C>A) c.1487C>A (p.Ser496Ter) c.452C>A (p.Ser151Ter) c.1196C>A (p.Ser399Ter) | |
2 | g.1917334A= | CA1233801044 | MYT1L | c.1483T= (p.Ser495=) c.978T= c.984T= c.1489T= (p.Ser497=) c.511T= (p.Ser171=) c.6T= c.506-25047T= (n.506-25047T=) c.232T= (p.Ser78=) c.1426T= (p.Ser476=) c.284T= c.704T= c.683T= c.1477+4958T= (n.1477+4958T=) c.4T= (p.Ser2=) c.*926T= (n.*926T=) c.410-25047T= (n.410-25047T=) c.1486T= (p.Ser496=) c.451T= (p.Ser151=) c.1195T= (p.Ser399=) | |
2 | g.1917334A>C | CA345702187 | MYT1L | c.1483T>G (p.Ser495Ala) c.978T>G c.984T>G c.1489T>G (p.Ser497Ala) c.511T>G (p.Ser171Ala) c.6T>G c.506-25047T>G (n.506-25047T>G) c.232T>G (p.Ser78Ala) c.1426T>G (p.Ser476Ala) c.284T>G c.704T>G c.683T>G c.1477+4958T>G (n.1477+4958T>G) c.4T>G (p.Ser2Ala) c.*926T>G (n.*926T>G) c.410-25047T>G (n.410-25047T>G) c.1486T>G (p.Ser496Ala) c.451T>G (p.Ser151Ala) c.1195T>G (p.Ser399Ala) | |
2 | g.1917334A>G | CA345702185 | MYT1L | c.1483T>C (p.Ser495Pro) c.978T>C c.984T>C c.1489T>C (p.Ser497Pro) c.511T>C (p.Ser171Pro) c.6T>C c.506-25047T>C (n.506-25047T>C) c.232T>C (p.Ser78Pro) c.1426T>C (p.Ser476Pro) c.284T>C c.704T>C c.683T>C c.1477+4958T>C (n.1477+4958T>C) c.4T>C (p.Ser2Pro) c.*926T>C (n.*926T>C) c.410-25047T>C (n.410-25047T>C) c.1486T>C (p.Ser496Pro) c.451T>C (p.Ser151Pro) c.1195T>C (p.Ser399Pro) | |
2 | g.1917334A>T | CA1514222 | MYT1L | c.1483T>A (p.Ser495Thr) c.978T>A c.984T>A c.1489T>A (p.Ser497Thr) c.511T>A (p.Ser171Thr) c.6T>A c.506-25047T>A (n.506-25047T>A) c.232T>A (p.Ser78Thr) c.1426T>A (p.Ser476Thr) c.284T>A c.704T>A c.683T>A c.1477+4958T>A (n.1477+4958T>A) c.4T>A (p.Ser2Thr) c.*926T>A (n.*926T>A) c.410-25047T>A (n.410-25047T>A) c.1486T>A (p.Ser496Thr) c.451T>A (p.Ser151Thr) c.1195T>A (p.Ser399Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917335G>A | CA1514223 | MYT1L | c.1482C>T (p.Pro494=) c.977C>T c.983C>T c.1488C>T (p.Pro496=) c.510C>T (p.Pro170=) c.5C>T c.506-25048C>T (n.506-25048C>T) c.231C>T (p.Pro77=) c.1425C>T (p.Pro475=) c.283C>T c.703C>T c.682C>T c.1477+4957C>T (n.1477+4957C>T) c.3C>T (p.Pro1=) c.*925C>T (n.*925C>T) c.410-25048C>T (n.410-25048C>T) c.1485C>T (p.Pro495=) c.450C>T (p.Pro150=) c.1194C>T (p.Pro398=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917335G>C | CA424516976 | MYT1L | c.1482C>G (p.Pro494=) c.977C>G c.983C>G c.1488C>G (p.Pro496=) c.510C>G (p.Pro170=) c.5C>G c.506-25048C>G (n.506-25048C>G) c.231C>G (p.Pro77=) c.1425C>G (p.Pro475=) c.283C>G c.703C>G c.682C>G c.1477+4957C>G (n.1477+4957C>G) c.3C>G (p.Pro1=) c.*925C>G (n.*925C>G) c.410-25048C>G (n.410-25048C>G) c.1485C>G (p.Pro495=) c.450C>G (p.Pro150=) c.1194C>G (p.Pro398=) | |
2 | g.1917335G= | CA1233801045 | MYT1L | c.1482C= (p.Pro494=) c.977C= c.983C= c.1488C= (p.Pro496=) c.510C= (p.Pro170=) c.5C= c.506-25048C= (n.506-25048C=) c.231C= (p.Pro77=) c.1425C= (p.Pro475=) c.283C= c.703C= c.682C= c.1477+4957C= (n.1477+4957C=) c.3C= (p.Pro1=) c.*925C= (n.*925C=) c.410-25048C= (n.410-25048C=) c.1485C= (p.Pro495=) c.450C= (p.Pro150=) c.1194C= (p.Pro398=) | |
2 | g.1917335G>T | CA424516975 | MYT1L | c.1482C>A (p.Pro494=) c.977C>A c.983C>A c.1488C>A (p.Pro496=) c.510C>A (p.Pro170=) c.5C>A c.506-25048C>A (n.506-25048C>A) c.231C>A (p.Pro77=) c.1425C>A (p.Pro475=) c.283C>A c.703C>A c.682C>A c.1477+4957C>A (n.1477+4957C>A) c.3C>A (p.Pro1=) c.*925C>A (n.*925C>A) c.410-25048C>A (n.410-25048C>A) c.1485C>A (p.Pro495=) c.450C>A (p.Pro150=) c.1194C>A (p.Pro398=) | |
2 | g.1917336G>A | CA345702190 | MYT1L | c.1481C>T (p.Pro494Leu) c.976C>T c.982C>T c.1487C>T (p.Pro496Leu) c.509C>T (p.Pro170Leu) c.4C>T c.506-25049C>T (n.506-25049C>T) c.230C>T (p.Pro77Leu) c.1424C>T (p.Pro475Leu) c.282C>T c.702C>T c.681C>T c.1477+4956C>T (n.1477+4956C>T) c.2C>T (p.Pro1Leu) c.*924C>T (n.*924C>T) c.410-25049C>T (n.410-25049C>T) c.1484C>T (p.Pro495Leu) c.449C>T (p.Pro150Leu) c.1193C>T (p.Pro398Leu) | gnomAD v4 |
2 | g.1917336G>C | CA345702191 | MYT1L | c.1481C>G (p.Pro494Arg) c.976C>G c.982C>G c.1487C>G (p.Pro496Arg) c.509C>G (p.Pro170Arg) c.4C>G c.506-25049C>G (n.506-25049C>G) c.230C>G (p.Pro77Arg) c.1424C>G (p.Pro475Arg) c.282C>G c.702C>G c.681C>G c.1477+4956C>G (n.1477+4956C>G) c.2C>G (p.Pro1Arg) c.*924C>G (n.*924C>G) c.410-25049C>G (n.410-25049C>G) c.1484C>G (p.Pro495Arg) c.449C>G (p.Pro150Arg) c.1193C>G (p.Pro398Arg) | |
2 | g.1917336G>T | CA345702192 | MYT1L | c.1481C>A (p.Pro494His) c.976C>A c.982C>A c.1487C>A (p.Pro496His) c.509C>A (p.Pro170His) c.4C>A c.506-25049C>A (n.506-25049C>A) c.230C>A (p.Pro77His) c.1424C>A (p.Pro475His) c.282C>A c.702C>A c.681C>A c.1477+4956C>A (n.1477+4956C>A) c.2C>A (p.Pro1His) c.*924C>A (n.*924C>A) c.410-25049C>A (n.410-25049C>A) c.1484C>A (p.Pro495His) c.449C>A (p.Pro150His) c.1193C>A (p.Pro398His) | |
2 | g.1917337G>A | CA1514224 | MYT1L | c.1480C>T (p.Pro494Ser) c.975C>T c.981C>T c.1486C>T (p.Pro496Ser) c.508C>T (p.Pro170Ser) c.3C>T c.506-25050C>T (n.506-25050C>T) c.229C>T (p.Pro77Ser) c.1423C>T (p.Pro475Ser) c.281C>T c.701C>T c.680C>T c.1477+4955C>T (n.1477+4955C>T) c.1C>T (p.Pro1Ser) c.*923C>T (n.*923C>T) c.410-25050C>T (n.410-25050C>T) c.1483C>T (p.Pro495Ser) c.448C>T (p.Pro150Ser) c.1192C>T (p.Pro398Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.1917337G>C | CA345702194 | MYT1L | c.1480C>G (p.Pro494Ala) c.975C>G c.981C>G c.1486C>G (p.Pro496Ala) c.508C>G (p.Pro170Ala) c.3C>G c.506-25050C>G (n.506-25050C>G) c.229C>G (p.Pro77Ala) c.1423C>G (p.Pro475Ala) c.281C>G c.701C>G c.680C>G c.1477+4955C>G (n.1477+4955C>G) c.1C>G (p.Pro1Ala) c.*923C>G (n.*923C>G) c.410-25050C>G (n.410-25050C>G) c.1483C>G (p.Pro495Ala) c.448C>G (p.Pro150Ala) c.1192C>G (p.Pro398Ala) | |
2 | g.1917337G= | CA1233801046 | MYT1L | c.1480C= (p.Pro494=) c.975C= c.981C= c.1486C= (p.Pro496=) c.508C= (p.Pro170=) c.3C= c.506-25050C= (n.506-25050C=) c.229C= (p.Pro77=) c.1423C= (p.Pro475=) c.281C= c.701C= c.680C= c.1477+4955C= (n.1477+4955C=) c.1C= (p.Pro1=) c.*923C= (n.*923C=) c.410-25050C= (n.410-25050C=) c.1483C= (p.Pro495=) c.448C= (p.Pro150=) c.1192C= (p.Pro398=) | |
2 | g.1917337G>T | CA345702196 | MYT1L | c.1480C>A (p.Pro494Thr) c.975C>A c.981C>A c.1486C>A (p.Pro496Thr) c.508C>A (p.Pro170Thr) c.3C>A c.506-25050C>A (n.506-25050C>A) c.229C>A (p.Pro77Thr) c.1423C>A (p.Pro475Thr) c.281C>A c.701C>A c.680C>A c.1477+4955C>A (n.1477+4955C>A) c.1C>A (p.Pro1Thr) c.*923C>A (n.*923C>A) c.410-25050C>A (n.410-25050C>A) c.1483C>A (p.Pro495Thr) c.448C>A (p.Pro150Thr) c.1192C>A (p.Pro398Thr) | |
2 | g.1917338A>C | CA345702198 | MYT1L | c.1479T>G (p.Asp493Glu) c.974T>G c.980T>G c.1485T>G (p.Asp495Glu) c.507T>G (p.Asp169Glu) c.2T>G c.506-25051T>G (n.506-25051T>G) c.228T>G (p.Asp76Glu) c.1422T>G (p.Asp474Glu) c.280T>G c.700T>G c.679T>G c.1477+4954T>G (n.1477+4954T>G) c.*922T>G (n.*922T>G) c.410-25051T>G (n.410-25051T>G) c.1482T>G (p.Asp494Glu) c.447T>G (p.Asp149Glu) c.1191T>G (p.Asp397Glu) | |
2 | g.1917338A>G | CA424516977 | MYT1L | c.1479T>C (p.Asp493=) c.974T>C c.980T>C c.1485T>C (p.Asp495=) c.507T>C (p.Asp169=) c.2T>C c.506-25051T>C (n.506-25051T>C) c.228T>C (p.Asp76=) c.1422T>C (p.Asp474=) c.280T>C c.700T>C c.679T>C c.1477+4954T>C (n.1477+4954T>C) c.*922T>C (n.*922T>C) c.410-25051T>C (n.410-25051T>C) c.1482T>C (p.Asp494=) c.447T>C (p.Asp149=) c.1191T>C (p.Asp397=) | |
2 | g.1917338A>T | CA345702199 | MYT1L | c.1479T>A (p.Asp493Glu) c.974T>A c.980T>A c.1485T>A (p.Asp495Glu) c.507T>A (p.Asp169Glu) c.2T>A c.506-25051T>A (n.506-25051T>A) c.228T>A (p.Asp76Glu) c.1422T>A (p.Asp474Glu) c.280T>A c.700T>A c.679T>A c.1477+4954T>A (n.1477+4954T>A) c.*922T>A (n.*922T>A) c.410-25051T>A (n.410-25051T>A) c.1482T>A (p.Asp494Glu) c.447T>A (p.Asp149Glu) c.1191T>A (p.Asp397Glu) | |
2 | g.1917339T>A | CA345702200 | MYT1L | c.1478A>T (p.Asp493Val) c.973A>T c.979A>T c.1484A>T (p.Asp495Val) c.506A>T (p.Asp169Val) c.1A>T c.506-25052A>T (n.506-25052A>T) c.227A>T (p.Asp76Val) c.1421A>T (p.Asp474Val) c.279A>T c.699A>T c.678A>T c.1477+4953A>T (n.1477+4953A>T) c.*921A>T (n.*921A>T) c.410-25052A>T (n.410-25052A>T) c.1481A>T (p.Asp494Val) c.446A>T (p.Asp149Val) c.1190A>T (p.Asp397Val) | |
2 | g.1917339T>C | CA345702202 | MYT1L | c.1478A>G (p.Asp493Gly) c.973A>G c.979A>G c.1484A>G (p.Asp495Gly) c.506A>G (p.Asp169Gly) c.1A>G c.506-25052A>G (n.506-25052A>G) c.227A>G (p.Asp76Gly) c.1421A>G (p.Asp474Gly) c.279A>G c.699A>G c.678A>G c.1477+4953A>G (n.1477+4953A>G) c.*921A>G (n.*921A>G) c.410-25052A>G (n.410-25052A>G) c.1481A>G (p.Asp494Gly) c.446A>G (p.Asp149Gly) c.1190A>G (p.Asp397Gly) | gnomAD v4 |
2 | g.1917339T>G | CA345702204 | MYT1L | c.1478A>C (p.Asp493Ala) c.973A>C c.979A>C c.1484A>C (p.Asp495Ala) c.506A>C (p.Asp169Ala) c.1A>C c.506-25052A>C (n.506-25052A>C) c.227A>C (p.Asp76Ala) c.1421A>C (p.Asp474Ala) c.279A>C c.699A>C c.678A>C c.1477+4953A>C (n.1477+4953A>C) c.*921A>C (n.*921A>C) c.410-25052A>C (n.410-25052A>C) c.1481A>C (p.Asp494Ala) c.446A>C (p.Asp149Ala) c.1190A>C (p.Asp397Ala) | |
2 | g.1917340C>A | CA345702208 | MYT1L | c.1478-1G>T (n.1478-1G>T) c.973-1G>T c.979-1G>T c.1484-1G>T (n.1484-1G>T) c.506-1G>T (n.506-1G>T) c.506-25053G>T (n.506-25053G>T) c.227-1G>T (n.227-1G>T) c.1421-1G>T (n.1421-1G>T) c.279-1G>T c.699-1G>T c.678-1G>T c.1477+4952G>T (n.1477+4952G>T) c.*921-1G>T (n.*921-1G>T) c.410-25053G>T (n.410-25053G>T) c.1481-1G>T (n.1481-1G>T) c.446-1G>T (n.446-1G>T) c.1190-1G>T (n.1190-1G>T) | gnomAD v4 |
2 | g.1917340C>G | CA345702207 | MYT1L | c.1478-1G>C (n.1478-1G>C) c.973-1G>C c.979-1G>C c.1484-1G>C (n.1484-1G>C) c.506-1G>C (n.506-1G>C) c.506-25053G>C (n.506-25053G>C) c.227-1G>C (n.227-1G>C) c.1421-1G>C (n.1421-1G>C) c.279-1G>C c.699-1G>C c.678-1G>C c.1477+4952G>C (n.1477+4952G>C) c.*921-1G>C (n.*921-1G>C) c.410-25053G>C (n.410-25053G>C) c.1481-1G>C (n.1481-1G>C) c.446-1G>C (n.446-1G>C) c.1190-1G>C (n.1190-1G>C) | |
2 | g.1917340C>T | CA345702206 | MYT1L | c.1478-1G>A (n.1478-1G>A) c.973-1G>A c.979-1G>A c.1484-1G>A (n.1484-1G>A) c.506-1G>A (n.506-1G>A) c.506-25053G>A (n.506-25053G>A) c.227-1G>A (n.227-1G>A) c.1421-1G>A (n.1421-1G>A) c.279-1G>A c.699-1G>A c.678-1G>A c.1477+4952G>A (n.1477+4952G>A) c.*921-1G>A (n.*921-1G>A) c.410-25053G>A (n.410-25053G>A) c.1481-1G>A (n.1481-1G>A) c.446-1G>A (n.446-1G>A) c.1190-1G>A (n.1190-1G>A) | |
2 | g.1917341T>A | CA345702209 | MYT1L | c.1478-2A>T (n.1478-2A>T) c.973-2A>T c.979-2A>T c.1484-2A>T (n.1484-2A>T) c.506-2A>T (n.506-2A>T) c.506-25054A>T (n.506-25054A>T) c.227-2A>T (n.227-2A>T) c.1421-2A>T (n.1421-2A>T) c.279-2A>T c.699-2A>T c.678-2A>T c.1477+4951A>T (n.1477+4951A>T) c.*921-2A>T (n.*921-2A>T) c.410-25054A>T (n.410-25054A>T) c.1481-2A>T (n.1481-2A>T) c.446-2A>T (n.446-2A>T) c.1190-2A>T (n.1190-2A>T) | |
2 | g.1917341T>C | CA345702211 | MYT1L | c.1478-2A>G (n.1478-2A>G) c.973-2A>G c.979-2A>G c.1484-2A>G (n.1484-2A>G) c.506-2A>G (n.506-2A>G) c.506-25054A>G (n.506-25054A>G) c.227-2A>G (n.227-2A>G) c.1421-2A>G (n.1421-2A>G) c.279-2A>G c.699-2A>G c.678-2A>G c.1477+4951A>G (n.1477+4951A>G) c.*921-2A>G (n.*921-2A>G) c.410-25054A>G (n.410-25054A>G) c.1481-2A>G (n.1481-2A>G) c.446-2A>G (n.446-2A>G) c.1190-2A>G (n.1190-2A>G) | |
2 | g.1917341T>G | CA345702210 | MYT1L | c.1478-2A>C (n.1478-2A>C) c.973-2A>C c.979-2A>C c.1484-2A>C (n.1484-2A>C) c.506-2A>C (n.506-2A>C) c.506-25054A>C (n.506-25054A>C) c.227-2A>C (n.227-2A>C) c.1421-2A>C (n.1421-2A>C) c.279-2A>C c.699-2A>C c.678-2A>C c.1477+4951A>C (n.1477+4951A>C) c.*921-2A>C (n.*921-2A>C) c.410-25054A>C (n.410-25054A>C) c.1481-2A>C (n.1481-2A>C) c.446-2A>C (n.446-2A>C) c.1190-2A>C (n.1190-2A>C) | |
2 | g.1917345A>C | CA2657669424 | MYT1L | c.1478-6T>G (n.1478-6T>G) c.973-6T>G c.979-6T>G c.1484-6T>G (n.1484-6T>G) c.506-6T>G (n.506-6T>G) c.506-25058T>G (n.506-25058T>G) c.227-6T>G (n.227-6T>G) c.1421-6T>G (n.1421-6T>G) c.279-6T>G c.699-6T>G c.678-6T>G c.1477+4947T>G (n.1477+4947T>G) c.*921-6T>G (n.*921-6T>G) c.410-25058T>G (n.410-25058T>G) c.1481-6T>G (n.1481-6T>G) c.446-6T>G (n.446-6T>G) c.1190-6T>G (n.1190-6T>G) | gnomAD v4 |
2 | g.1917346G>A | CA41421381 | MYT1L | c.1478-7C>T (n.1478-7C>T) c.973-7C>T c.979-7C>T c.1484-7C>T (n.1484-7C>T) c.506-7C>T (n.506-7C>T) c.506-25059C>T (n.506-25059C>T) c.227-7C>T (n.227-7C>T) c.1421-7C>T (n.1421-7C>T) c.279-7C>T c.699-7C>T c.678-7C>T c.1477+4946C>T (n.1477+4946C>T) c.*921-7C>T (n.*921-7C>T) c.410-25059C>T (n.410-25059C>T) c.1481-7C>T (n.1481-7C>T) c.446-7C>T (n.446-7C>T) c.1190-7C>T (n.1190-7C>T) | dbSNP gnomAD v4 |
2 | g.1917346G= | CA1233801047 | MYT1L | c.1478-7C= (n.1478-7C=) c.973-7C= c.979-7C= c.1484-7C= (n.1484-7C=) c.506-7C= (n.506-7C=) c.506-25059C= (n.506-25059C=) c.227-7C= (n.227-7C=) c.1421-7C= (n.1421-7C=) c.279-7C= c.699-7C= c.678-7C= c.1477+4946C= (n.1477+4946C=) c.*921-7C= (n.*921-7C=) c.410-25059C= (n.410-25059C=) c.1481-7C= (n.1481-7C=) c.446-7C= (n.446-7C=) c.1190-7C= (n.1190-7C=) | |
2 | g.1917347C>A | CA1233801048 | MYT1L | c.1478-8G>T (n.1478-8G>T) c.973-8G>T c.979-8G>T c.1484-8G>T (n.1484-8G>T) c.506-8G>T (n.506-8G>T) c.506-25060G>T (n.506-25060G>T) c.227-8G>T (n.227-8G>T) c.1421-8G>T (n.1421-8G>T) c.279-8G>T c.699-8G>T c.678-8G>T c.1477+4945G>T (n.1477+4945G>T) c.*921-8G>T (n.*921-8G>T) c.410-25060G>T (n.410-25060G>T) c.1481-8G>T (n.1481-8G>T) c.446-8G>T (n.446-8G>T) c.1190-8G>T (n.1190-8G>T) | dbSNP gnomAD v4 |
2 | g.1917347C= | CA1233801049 | MYT1L | c.1478-8G= (n.1478-8G=) c.973-8G= c.979-8G= c.1484-8G= (n.1484-8G=) c.506-8G= (n.506-8G=) c.506-25060G= (n.506-25060G=) c.227-8G= (n.227-8G=) c.1421-8G= (n.1421-8G=) c.279-8G= c.699-8G= c.678-8G= c.1477+4945G= (n.1477+4945G=) c.*921-8G= (n.*921-8G=) c.410-25060G= (n.410-25060G=) c.1481-8G= (n.1481-8G=) c.446-8G= (n.446-8G=) c.1190-8G= (n.1190-8G=) | |
2 | g.1917347C>T | CA1514225 | MYT1L | c.1478-8G>A (n.1478-8G>A) c.973-8G>A c.979-8G>A c.1484-8G>A (n.1484-8G>A) c.506-8G>A (n.506-8G>A) c.506-25060G>A (n.506-25060G>A) c.227-8G>A (n.227-8G>A) c.1421-8G>A (n.1421-8G>A) c.279-8G>A c.699-8G>A c.678-8G>A c.1477+4945G>A (n.1477+4945G>A) c.*921-8G>A (n.*921-8G>A) c.410-25060G>A (n.410-25060G>A) c.1481-8G>A (n.1481-8G>A) c.446-8G>A (n.446-8G>A) c.1190-8G>A (n.1190-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917348G>A | CA530420480 | MYT1L | c.1478-9C>T (n.1478-9C>T) c.973-9C>T c.979-9C>T c.1484-9C>T (n.1484-9C>T) c.506-9C>T (n.506-9C>T) c.506-25061C>T (n.506-25061C>T) c.227-9C>T (n.227-9C>T) c.1421-9C>T (n.1421-9C>T) c.279-9C>T c.699-9C>T c.678-9C>T c.1477+4944C>T (n.1477+4944C>T) c.*921-9C>T (n.*921-9C>T) c.410-25061C>T (n.410-25061C>T) c.1481-9C>T (n.1481-9C>T) c.446-9C>T (n.446-9C>T) c.1190-9C>T (n.1190-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917348G>C | CA2657669425 | MYT1L | c.1478-9C>G (n.1478-9C>G) c.973-9C>G c.979-9C>G c.1484-9C>G (n.1484-9C>G) c.506-9C>G (n.506-9C>G) c.506-25061C>G (n.506-25061C>G) c.227-9C>G (n.227-9C>G) c.1421-9C>G (n.1421-9C>G) c.279-9C>G c.699-9C>G c.678-9C>G c.1477+4944C>G (n.1477+4944C>G) c.*921-9C>G (n.*921-9C>G) c.410-25061C>G (n.410-25061C>G) c.1481-9C>G (n.1481-9C>G) c.446-9C>G (n.446-9C>G) c.1190-9C>G (n.1190-9C>G) | gnomAD v4 |
2 | g.1917348G= | CA1233801050 | MYT1L | c.1478-9C= (n.1478-9C=) c.973-9C= c.979-9C= c.1484-9C= (n.1484-9C=) c.506-9C= (n.506-9C=) c.506-25061C= (n.506-25061C=) c.227-9C= (n.227-9C=) c.1421-9C= (n.1421-9C=) c.279-9C= c.699-9C= c.678-9C= c.1477+4944C= (n.1477+4944C=) c.*921-9C= (n.*921-9C=) c.410-25061C= (n.410-25061C=) c.1481-9C= (n.1481-9C=) c.446-9C= (n.446-9C=) c.1190-9C= (n.1190-9C=) | |
2 | g.1917349A= | CA1233801051 | MYT1L | c.1478-10T= (n.1478-10T=) c.973-10T= c.979-10T= c.1484-10T= (n.1484-10T=) c.506-10T= (n.506-10T=) c.506-25062T= (n.506-25062T=) c.227-10T= (n.227-10T=) c.1421-10T= (n.1421-10T=) c.279-10T= c.699-10T= c.678-10T= c.1477+4943T= (n.1477+4943T=) c.*921-10T= (n.*921-10T=) c.410-25062T= (n.410-25062T=) c.1481-10T= (n.1481-10T=) c.446-10T= (n.446-10T=) c.1190-10T= (n.1190-10T=) | |
2 | g.1917349A>G | CA1514226 | MYT1L | c.1478-10T>C (n.1478-10T>C) c.973-10T>C c.979-10T>C c.1484-10T>C (n.1484-10T>C) c.506-10T>C (n.506-10T>C) c.506-25062T>C (n.506-25062T>C) c.227-10T>C (n.227-10T>C) c.1421-10T>C (n.1421-10T>C) c.279-10T>C c.699-10T>C c.678-10T>C c.1477+4943T>C (n.1477+4943T>C) c.*921-10T>C (n.*921-10T>C) c.410-25062T>C (n.410-25062T>C) c.1481-10T>C (n.1481-10T>C) c.446-10T>C (n.446-10T>C) c.1190-10T>C (n.1190-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917350C>A | CA2748628079 | MYT1L | c.1478-11G>T (n.1478-11G>T) c.973-11G>T c.979-11G>T c.1484-11G>T (n.1484-11G>T) c.506-11G>T (n.506-11G>T) c.506-25063G>T (n.506-25063G>T) c.227-11G>T (n.227-11G>T) c.1421-11G>T (n.1421-11G>T) c.279-11G>T c.699-11G>T c.678-11G>T c.1477+4942G>T (n.1477+4942G>T) c.*921-11G>T (n.*921-11G>T) c.410-25063G>T (n.410-25063G>T) c.1481-11G>T (n.1481-11G>T) c.446-11G>T (n.446-11G>T) c.1190-11G>T (n.1190-11G>T) | |
2 | g.1917350C= | CA1233801052 | MYT1L | c.1478-11G= (n.1478-11G=) c.973-11G= c.979-11G= c.1484-11G= (n.1484-11G=) c.506-11G= (n.506-11G=) c.506-25063G= (n.506-25063G=) c.227-11G= (n.227-11G=) c.1421-11G= (n.1421-11G=) c.279-11G= c.699-11G= c.678-11G= c.1477+4942G= (n.1477+4942G=) c.*921-11G= (n.*921-11G=) c.410-25063G= (n.410-25063G=) c.1481-11G= (n.1481-11G=) c.446-11G= (n.446-11G=) c.1190-11G= (n.1190-11G=) | |
2 | g.1917350C>T | CA1514227 | MYT1L | c.1478-11G>A (n.1478-11G>A) c.973-11G>A c.979-11G>A c.1484-11G>A (n.1484-11G>A) c.506-11G>A (n.506-11G>A) c.506-25063G>A (n.506-25063G>A) c.227-11G>A (n.227-11G>A) c.1421-11G>A (n.1421-11G>A) c.279-11G>A c.699-11G>A c.678-11G>A c.1477+4942G>A (n.1477+4942G>A) c.*921-11G>A (n.*921-11G>A) c.410-25063G>A (n.410-25063G>A) c.1481-11G>A (n.1481-11G>A) c.446-11G>A (n.446-11G>A) c.1190-11G>A (n.1190-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917354A>G | CA2657669426 | MYT1L | c.1478-15T>C (n.1478-15T>C) c.973-15T>C c.979-15T>C c.1484-15T>C (n.1484-15T>C) c.506-15T>C (n.506-15T>C) c.506-25067T>C (n.506-25067T>C) c.227-15T>C (n.227-15T>C) c.1421-15T>C (n.1421-15T>C) c.279-15T>C c.699-15T>C c.678-15T>C c.1477+4938T>C (n.1477+4938T>C) c.*921-15T>C (n.*921-15T>C) c.410-25067T>C (n.410-25067T>C) c.1481-15T>C (n.1481-15T>C) c.446-15T>C (n.446-15T>C) c.1190-15T>C (n.1190-15T>C) | gnomAD v4 |
2 | g.1917357T>G | CA2657669427 | MYT1L | c.1478-18A>C (n.1478-18A>C) c.973-18A>C c.979-18A>C c.1484-18A>C (n.1484-18A>C) c.506-18A>C (n.506-18A>C) c.506-25070A>C (n.506-25070A>C) c.227-18A>C (n.227-18A>C) c.1421-18A>C (n.1421-18A>C) c.279-18A>C c.699-18A>C c.678-18A>C c.1477+4935A>C (n.1477+4935A>C) c.*921-18A>C (n.*921-18A>C) c.410-25070A>C (n.410-25070A>C) c.1481-18A>C (n.1481-18A>C) c.446-18A>C (n.446-18A>C) c.1190-18A>C (n.1190-18A>C) | gnomAD v4 |
2 | g.1917358G>A | CA41421412 | MYT1L | c.1478-19C>T (n.1478-19C>T) c.973-19C>T c.979-19C>T c.1484-19C>T (n.1484-19C>T) c.506-19C>T (n.506-19C>T) c.506-25071C>T (n.506-25071C>T) c.227-19C>T (n.227-19C>T) c.1421-19C>T (n.1421-19C>T) c.279-19C>T c.699-19C>T c.678-19C>T c.1477+4934C>T (n.1477+4934C>T) c.*921-19C>T (n.*921-19C>T) c.410-25071C>T (n.410-25071C>T) c.1481-19C>T (n.1481-19C>T) c.446-19C>T (n.446-19C>T) c.1190-19C>T (n.1190-19C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917358G= | CA1233801053 | MYT1L | c.1478-19C= (n.1478-19C=) c.973-19C= c.979-19C= c.1484-19C= (n.1484-19C=) c.506-19C= (n.506-19C=) c.506-25071C= (n.506-25071C=) c.227-19C= (n.227-19C=) c.1421-19C= (n.1421-19C=) c.279-19C= c.699-19C= c.678-19C= c.1477+4934C= (n.1477+4934C=) c.*921-19C= (n.*921-19C=) c.410-25071C= (n.410-25071C=) c.1481-19C= (n.1481-19C=) c.446-19C= (n.446-19C=) c.1190-19C= (n.1190-19C=) | |
2 | g.1917359C>A | CA1514228 | MYT1L | c.1478-20G>T (n.1478-20G>T) c.973-20G>T c.979-20G>T c.1484-20G>T (n.1484-20G>T) c.506-20G>T (n.506-20G>T) c.506-25072G>T (n.506-25072G>T) c.227-20G>T (n.227-20G>T) c.1421-20G>T (n.1421-20G>T) c.279-20G>T c.699-20G>T c.678-20G>T c.1477+4933G>T (n.1477+4933G>T) c.*921-20G>T (n.*921-20G>T) c.410-25072G>T (n.410-25072G>T) c.1481-20G>T (n.1481-20G>T) c.446-20G>T (n.446-20G>T) c.1190-20G>T (n.1190-20G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917359C= | CA1233801054 | MYT1L | c.1478-20G= (n.1478-20G=) c.973-20G= c.979-20G= c.1484-20G= (n.1484-20G=) c.506-20G= (n.506-20G=) c.506-25072G= (n.506-25072G=) c.227-20G= (n.227-20G=) c.1421-20G= (n.1421-20G=) c.279-20G= c.699-20G= c.678-20G= c.1477+4933G= (n.1477+4933G=) c.*921-20G= (n.*921-20G=) c.410-25072G= (n.410-25072G=) c.1481-20G= (n.1481-20G=) c.446-20G= (n.446-20G=) c.1190-20G= (n.1190-20G=) | |
2 | g.1917359C>T | CA1514229 | MYT1L | c.1478-20G>A (n.1478-20G>A) c.973-20G>A c.979-20G>A c.1484-20G>A (n.1484-20G>A) c.506-20G>A (n.506-20G>A) c.506-25072G>A (n.506-25072G>A) c.227-20G>A (n.227-20G>A) c.1421-20G>A (n.1421-20G>A) c.279-20G>A c.699-20G>A c.678-20G>A c.1477+4933G>A (n.1477+4933G>A) c.*921-20G>A (n.*921-20G>A) c.410-25072G>A (n.410-25072G>A) c.1481-20G>A (n.1481-20G>A) c.446-20G>A (n.446-20G>A) c.1190-20G>A (n.1190-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.1917360C>A | CA646981349 | MYT1L | c.1478-21G>T (n.1478-21G>T) c.973-21G>T c.979-21G>T c.1484-21G>T (n.1484-21G>T) c.506-21G>T (n.506-21G>T) c.506-25073G>T (n.506-25073G>T) c.227-21G>T (n.227-21G>T) c.1421-21G>T (n.1421-21G>T) c.279-21G>T c.699-21G>T c.678-21G>T c.1477+4932G>T (n.1477+4932G>T) c.*921-21G>T (n.*921-21G>T) c.410-25073G>T (n.410-25073G>T) c.1481-21G>T (n.1481-21G>T) c.446-21G>T (n.446-21G>T) c.1190-21G>T (n.1190-21G>T) | COSMIC |
2 | g.1917361A= | CA1233801055 | MYT1L | c.1478-22T= (n.1478-22T=) c.973-22T= c.979-22T= c.1484-22T= (n.1484-22T=) c.506-22T= (n.506-22T=) c.506-25074T= (n.506-25074T=) c.227-22T= (n.227-22T=) c.1421-22T= (n.1421-22T=) c.279-22T= c.699-22T= c.678-22T= c.1477+4931T= (n.1477+4931T=) c.*921-22T= (n.*921-22T=) c.410-25074T= (n.410-25074T=) c.1481-22T= (n.1481-22T=) c.446-22T= (n.446-22T=) c.1190-22T= (n.1190-22T=) | |
2 | g.1917361A>G | CA530420498 | MYT1L | c.1478-22T>C (n.1478-22T>C) c.973-22T>C c.979-22T>C c.1484-22T>C (n.1484-22T>C) c.506-22T>C (n.506-22T>C) c.506-25074T>C (n.506-25074T>C) c.227-22T>C (n.227-22T>C) c.1421-22T>C (n.1421-22T>C) c.279-22T>C c.699-22T>C c.678-22T>C c.1477+4931T>C (n.1477+4931T>C) c.*921-22T>C (n.*921-22T>C) c.410-25074T>C (n.410-25074T>C) c.1481-22T>C (n.1481-22T>C) c.446-22T>C (n.446-22T>C) c.1190-22T>C (n.1190-22T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.1917362A>C | CA2698750319 | MYT1L | c.1478-23T>G (n.1478-23T>G) c.973-23T>G c.979-23T>G c.1484-23T>G (n.1484-23T>G) c.506-23T>G (n.506-23T>G) c.506-25075T>G (n.506-25075T>G) c.227-23T>G (n.227-23T>G) c.1421-23T>G (n.1421-23T>G) c.279-23T>G c.699-23T>G c.678-23T>G c.1477+4930T>G (n.1477+4930T>G) c.*921-23T>G (n.*921-23T>G) c.410-25075T>G (n.410-25075T>G) c.1481-23T>G (n.1481-23T>G) c.446-23T>G (n.446-23T>G) c.1190-23T>G (n.1190-23T>G) | dbSNP |
2 | g.1917363G>A | CA530420502 | MYT1L | c.1478-24C>T (n.1478-24C>T) c.973-24C>T c.979-24C>T c.1484-24C>T (n.1484-24C>T) c.506-24C>T (n.506-24C>T) c.506-25076C>T (n.506-25076C>T) c.227-24C>T (n.227-24C>T) c.1421-24C>T (n.1421-24C>T) c.279-24C>T c.699-24C>T c.678-24C>T c.1477+4929C>T (n.1477+4929C>T) c.*921-24C>T (n.*921-24C>T) c.410-25076C>T (n.410-25076C>T) c.1481-24C>T (n.1481-24C>T) c.446-24C>T (n.446-24C>T) c.1190-24C>T (n.1190-24C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.1917363G= | CA1233801056 | MYT1L | c.1478-24C= (n.1478-24C=) c.973-24C= c.979-24C= c.1484-24C= (n.1484-24C=) c.506-24C= (n.506-24C=) c.506-25076C= (n.506-25076C=) c.227-24C= (n.227-24C=) c.1421-24C= (n.1421-24C=) c.279-24C= c.699-24C= c.678-24C= c.1477+4929C= (n.1477+4929C=) c.*921-24C= (n.*921-24C=) c.410-25076C= (n.410-25076C=) c.1481-24C= (n.1481-24C=) c.446-24C= (n.446-24C=) c.1190-24C= (n.1190-24C=) | |
2 | g.1917364A= | CA1233801057 | MYT1L | c.1478-25T= (n.1478-25T=) c.973-25T= c.979-25T= c.1484-25T= (n.1484-25T=) c.506-25T= (n.506-25T=) c.506-25077T= (n.506-25077T=) c.227-25T= (n.227-25T=) c.1421-25T= (n.1421-25T=) c.279-25T= c.699-25T= c.678-25T= c.1477+4928T= (n.1477+4928T=) c.*921-25T= (n.*921-25T=) c.410-25077T= (n.410-25077T=) c.1481-25T= (n.1481-25T=) c.446-25T= (n.446-25T=) c.1190-25T= (n.1190-25T=) | |
2 | g.1917364A>G | CA530420505 | MYT1L | c.1478-25T>C (n.1478-25T>C) c.973-25T>C c.979-25T>C c.1484-25T>C (n.1484-25T>C) c.506-25T>C (n.506-25T>C) c.506-25077T>C (n.506-25077T>C) c.227-25T>C (n.227-25T>C) c.1421-25T>C (n.1421-25T>C) c.279-25T>C c.699-25T>C c.678-25T>C c.1477+4928T>C (n.1477+4928T>C) c.*921-25T>C (n.*921-25T>C) c.410-25077T>C (n.410-25077T>C) c.1481-25T>C (n.1481-25T>C) c.446-25T>C (n.446-25T>C) c.1190-25T>C (n.1190-25T>C) | dbSNP gnomAD v2 gnomAD v4 |