UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108211045_108211048del | CA2623644563 | LIG4 | c.22_25del (p.Leu8LysfsTer?) c.223_226del (p.Leu75LysfsTer?) c.259_262del (p.Leu87LysfsTer?) c.235_238del (p.Leu79LysfsTer?) | gnomAD v4 |
| 13 | g.108211045A>C | CA388623966 | LIG4 | c.23T>G (p.Leu8Arg) c.224T>G (p.Leu75Arg) c.260T>G (p.Leu87Arg) c.236T>G (p.Leu79Arg) | |
| 13 | g.108211045A>G | CA388623963 | LIG4 | c.23T>C (p.Leu8Pro) c.224T>C (p.Leu75Pro) c.260T>C (p.Leu87Pro) c.236T>C (p.Leu79Pro) | |
| 13 | g.108211045A>T | CA388623964 | LIG4 | c.23T>A (p.Leu8Gln) c.224T>A (p.Leu75Gln) c.260T>A (p.Leu87Gln) c.236T>A (p.Leu79Gln) | |
| 13 | g.108211046G>A | CA484976176 | LIG4 | c.22C>T (p.Leu8=) c.223C>T (p.Leu75=) c.259C>T (p.Leu87=) c.235C>T (p.Leu79=) | |
| 13 | g.108211046G>C | CA388623968 | LIG4 | c.22C>G (p.Leu8Val) c.223C>G (p.Leu75Val) c.259C>G (p.Leu87Val) c.235C>G (p.Leu79Val) | |
| 13 | g.108211046G>T | CA388623970 | LIG4 | c.22C>A (p.Leu8Ile) c.223C>A (p.Leu75Ile) c.259C>A (p.Leu87Ile) c.235C>A (p.Leu79Ile) | |
| 13 | g.108211050_108211072del | CA2623644564 | LIG4 | c.-1_22del c.201_223del (p.Met68ArgfsTer10) c.237_259del (p.Met80ArgfsTer10) c.213_235del (p.Met72ArgfsTer10) | gnomAD v4 |
| 13 | g.108211047C>A | CA388623971 | LIG4 | c.21G>T (p.Gln7His) c.222G>T (p.Gln74His) c.258G>T (p.Gln86His) c.234G>T (p.Gln78His) | |
| 13 | g.108211047C>G | CA388623972 | LIG4 | c.21G>C (p.Gln7His) c.222G>C (p.Gln74His) c.258G>C (p.Gln86His) c.234G>C (p.Gln78His) | |
| 13 | g.108211047C>T | CA484976178 | LIG4 | c.21G>A (p.Gln7=) c.222G>A (p.Gln74=) c.258G>A (p.Gln86=) c.234G>A (p.Gln78=) | |
| 13 | g.108211048T>A | CA388623975 | LIG4 | c.20A>T (p.Gln7Leu) c.221A>T (p.Gln74Leu) c.257A>T (p.Gln86Leu) c.233A>T (p.Gln78Leu) | |
| 13 | g.108211048T>C | CA388623977 | LIG4 | c.20A>G (p.Gln7Arg) c.221A>G (p.Gln74Arg) c.257A>G (p.Gln86Arg) c.233A>G (p.Gln78Arg) | gnomAD v4 |
| 13 | g.108211048T>G | CA388623979 | LIG4 | c.20A>C (p.Gln7Pro) c.221A>C (p.Gln74Pro) c.257A>C (p.Gln86Pro) c.233A>C (p.Gln78Pro) | |
| 13 | g.108211049G>A | CA388623981 | LIG4 | c.19C>T (p.Gln7Ter) c.220C>T (p.Gln74Ter) c.256C>T (p.Gln86Ter) c.232C>T (p.Gln78Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108211049G>C | CA388623983 | LIG4 | c.19C>G (p.Gln7Glu) c.220C>G (p.Gln74Glu) c.256C>G (p.Gln86Glu) c.232C>G (p.Gln78Glu) | |
| 13 | g.108211049G= | CA2117794849 | LIG4 | c.19C= (p.Gln7=) c.220C= (p.Gln74=) c.256C= (p.Gln86=) c.232C= (p.Gln78=) | |
| 13 | g.108211049G>T | CA388623985 | LIG4 | c.19C>A (p.Gln7Lys) c.220C>A (p.Gln74Lys) c.256C>A (p.Gln86Lys) c.232C>A (p.Gln78Lys) | |
| 13 | g.108211050A>C | CA484976182 | LIG4 | c.18T>G (p.Pro6=) c.219T>G (p.Pro73=) c.255T>G (p.Pro85=) c.231T>G (p.Pro77=) | |
| 13 | g.108211050A>G | CA484976183 | LIG4 | c.18T>C (p.Pro6=) c.219T>C (p.Pro73=) c.255T>C (p.Pro85=) c.231T>C (p.Pro77=) | |
| 13 | g.108211050A>T | CA484976185 | LIG4 | c.18T>A (p.Pro6=) c.219T>A (p.Pro73=) c.255T>A (p.Pro85=) c.231T>A (p.Pro77=) | |
| 13 | g.108211051G>A | CA388623986 | LIG4 | c.17C>T (p.Pro6Leu) c.218C>T (p.Pro73Leu) c.254C>T (p.Pro85Leu) c.230C>T (p.Pro77Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108211051G>C | CA388623987 | LIG4 | c.17C>G (p.Pro6Arg) c.218C>G (p.Pro73Arg) c.254C>G (p.Pro85Arg) c.230C>G (p.Pro77Arg) | |
| 13 | g.108211051G= | CA2117794850 | LIG4 | c.17C= (p.Pro6=) c.218C= (p.Pro73=) c.254C= (p.Pro85=) c.230C= (p.Pro77=) | |
| 13 | g.108211051G>T | CA388623989 | LIG4 | c.17C>A (p.Pro6His) c.218C>A (p.Pro73His) c.254C>A (p.Pro85His) c.230C>A (p.Pro77His) | |
| 13 | g.108211052G>A | CA388623994 | LIG4 | c.16C>T (p.Pro6Ser) c.217C>T (p.Pro73Ser) c.253C>T (p.Pro85Ser) c.229C>T (p.Pro77Ser) | |
| 13 | g.108211052G>C | CA388623991 | LIG4 | c.16C>G (p.Pro6Ala) c.217C>G (p.Pro73Ala) c.253C>G (p.Pro85Ala) c.229C>G (p.Pro77Ala) | |
| 13 | g.108211052G>T | CA388623993 | LIG4 | c.16C>A (p.Pro6Thr) c.217C>A (p.Pro73Thr) c.253C>A (p.Pro85Thr) c.229C>A (p.Pro77Thr) | |
| 13 | g.108211053A>C | CA484976190 | LIG4 | c.15T>G (p.Leu5=) c.216T>G (p.Leu72=) c.252T>G (p.Leu84=) c.228T>G (p.Leu76=) | |
| 13 | g.108211053A>G | CA484976193 | LIG4 | c.15T>C (p.Leu5=) c.216T>C (p.Leu72=) c.252T>C (p.Leu84=) c.228T>C (p.Leu76=) | |
| 13 | g.108211053A>T | CA484976196 | LIG4 | c.15T>A (p.Leu5=) c.216T>A (p.Leu72=) c.252T>A (p.Leu84=) c.228T>A (p.Leu76=) | |
| 13 | g.108211054A>C | CA388623996 | LIG4 | c.14T>G (p.Leu5Arg) c.215T>G (p.Leu72Arg) c.251T>G (p.Leu84Arg) c.227T>G (p.Leu76Arg) | |
| 13 | g.108211054A>G | CA388623997 | LIG4 | c.14T>C (p.Leu5Pro) c.215T>C (p.Leu72Pro) c.251T>C (p.Leu84Pro) c.227T>C (p.Leu76Pro) | gnomAD v4 |
| 13 | g.108211054A>T | CA388623999 | LIG4 | c.14T>A (p.Leu5His) c.215T>A (p.Leu72His) c.251T>A (p.Leu84His) c.227T>A (p.Leu76His) | |
| 13 | g.108211055G>A | CA388624001 | LIG4 | c.13C>T (p.Leu5Phe) c.214C>T (p.Leu72Phe) c.250C>T (p.Leu84Phe) c.226C>T (p.Leu76Phe) | dbSNP |
| 13 | g.108211055G>C | CA7043870 | LIG4 | c.13C>G (p.Leu5Val) c.214C>G (p.Leu72Val) c.250C>G (p.Leu84Val) c.226C>G (p.Leu76Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108211055G= | CA2117794851 | LIG4 | c.13C= (p.Leu5=) c.214C= (p.Leu72=) c.250C= (p.Leu84=) c.226C= (p.Leu76=) | |
| 13 | g.108211055G>T | CA388624004 | LIG4 | c.13C>A (p.Leu5Ile) c.214C>A (p.Leu72Ile) c.250C>A (p.Leu84Ile) c.226C>A (p.Leu76Ile) | |
| 13 | g.108211056A>C | CA388624006 | LIG4 | c.12T>G (p.Ile4Met) c.213T>G (p.Ile71Met) c.249T>G (p.Ile83Met) c.225T>G (p.Ile75Met) | |
| 13 | g.108211056A>G | CA484976199 | LIG4 | c.12T>C (p.Ile4=) c.213T>C (p.Ile71=) c.249T>C (p.Ile83=) c.225T>C (p.Ile75=) | |
| 13 | g.108211056A>T | CA484976201 | LIG4 | c.12T>A (p.Ile4=) c.213T>A (p.Ile71=) c.249T>A (p.Ile83=) c.225T>A (p.Ile75=) | |
| 13 | g.108211057A= | CA2117794852 | LIG4 | c.11T= (p.Ile4=) c.212T= (p.Ile71=) c.248T= (p.Ile83=) c.224T= (p.Ile75=) | |
| 13 | g.108211057A>C | CA388624008 | LIG4 | c.11T>G (p.Ile4Ser) c.212T>G (p.Ile71Ser) c.248T>G (p.Ile83Ser) c.224T>G (p.Ile75Ser) | |
| 13 | g.108211057A>G | CA388624010 | LIG4 | c.11T>C (p.Ile4Thr) c.212T>C (p.Ile71Thr) c.248T>C (p.Ile83Thr) c.224T>C (p.Ile75Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108211057A>T | CA388624012 | LIG4 | c.11T>A (p.Ile4Asn) c.212T>A (p.Ile71Asn) c.248T>A (p.Ile83Asn) c.224T>A (p.Ile75Asn) | |
| 13 | g.108211058T>A | CA388624014 | LIG4 | c.10A>T (p.Ile4Phe) c.211A>T (p.Ile71Phe) c.247A>T (p.Ile83Phe) c.223A>T (p.Ile75Phe) | gnomAD v4 |
| 13 | g.108211058T>C | CA388624016 | LIG4 | c.10A>G (p.Ile4Val) c.211A>G (p.Ile71Val) c.247A>G (p.Ile83Val) c.223A>G (p.Ile75Val) | gnomAD v4 |
| 13 | g.108211058T>G | CA388624018 | LIG4 | c.10A>C (p.Ile4Leu) c.211A>C (p.Ile71Leu) c.247A>C (p.Ile83Leu) c.223A>C (p.Ile75Leu) | |
| 13 | g.108211059T>A | CA484976209 | LIG4 | c.9A>T (p.Leu3=) c.210A>T (p.Leu70=) c.246A>T (p.Leu82=) c.222A>T (p.Leu74=) | |
| 13 | g.108211059T>C | CA484976211 | LIG4 | c.9A>G (p.Leu3=) c.210A>G (p.Leu70=) c.246A>G (p.Leu82=) c.222A>G (p.Leu74=) |