Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.168990819T>A | CA349125474 | ABCB11 | c.890A>T (p.Glu297Val) c.932A>T (p.Glu311Val) c.992A>T (p.Glu331Val) c.221A>T (p.Glu74Val) | |
2 | g.168990819T>C | CA253878 | ABCB11 | c.890A>G (p.Glu297Gly) c.932A>G (p.Glu311Gly) c.992A>G (p.Glu331Gly) c.221A>G (p.Glu74Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168990819T>G | CA349125475 | ABCB11 | c.890A>C (p.Glu297Ala) c.932A>C (p.Glu311Ala) c.992A>C (p.Glu331Ala) c.221A>C (p.Glu74Ala) | |
2 | g.168990819T= | CA1306237636 | ABCB11 | c.890A= (p.Glu297=) c.932A= (p.Glu311=) c.992A= (p.Glu331=) c.221A= (p.Glu74=) | |
2 | g.168990820C>A | CA349125476 | ABCB11 | c.889G>T (p.Glu297Ter) c.931G>T (p.Glu311Ter) c.991G>T (p.Glu331Ter) c.220G>T (p.Glu74Ter) | |
2 | g.168990820C>G | CA349125477 | ABCB11 | c.889G>C (p.Glu297Gln) c.931G>C (p.Glu311Gln) c.991G>C (p.Glu331Gln) c.220G>C (p.Glu74Gln) | |
2 | g.168990820C>T | CA349125478 | ABCB11 | c.889G>A (p.Glu297Lys) c.931G>A (p.Glu311Lys) c.991G>A (p.Glu331Lys) c.220G>A (p.Glu74Lys) | gnomAD v4 |
2 | g.168990821A= | CA1306237640 | ABCB11 | c.888T= (p.Gly296=) c.930T= (p.Gly310=) c.990T= (p.Gly330=) c.219T= (p.Gly73=) | |
2 | g.168990821A>C | CA1951777 | ABCB11 | c.888T>G (p.Gly296=) c.930T>G (p.Gly310=) c.990T>G (p.Gly330=) c.219T>G (p.Gly73=) | dbSNP ExAC |
2 | g.168990821A>G | CA429917076 | ABCB11 | c.888T>C (p.Gly296=) c.930T>C (p.Gly310=) c.990T>C (p.Gly330=) c.219T>C (p.Gly73=) | |
2 | g.168990821A>T | CA429917077 | ABCB11 | c.888T>A (p.Gly296=) c.930T>A (p.Gly310=) c.990T>A (p.Gly330=) c.219T>A (p.Gly73=) | |
2 | g.168990822C>A | CA349125479 | ABCB11 | c.887G>T (p.Gly296Val) c.929G>T (p.Gly310Val) c.989G>T (p.Gly330Val) c.218G>T (p.Gly73Val) | |
2 | g.168990822C>G | CA349125480 | ABCB11 | c.887G>C (p.Gly296Ala) c.929G>C (p.Gly310Ala) c.989G>C (p.Gly330Ala) c.218G>C (p.Gly73Ala) | |
2 | g.168990822C>T | CA349125481 | ABCB11 | c.887G>A (p.Gly296Asp) c.929G>A (p.Gly310Asp) c.989G>A (p.Gly330Asp) c.218G>A (p.Gly73Asp) | |
2 | g.168990823C>A | CA349125482 | ABCB11 | c.886G>T (p.Gly296Cys) c.928G>T (p.Gly310Cys) c.988G>T (p.Gly330Cys) c.217G>T (p.Gly73Cys) | |
2 | g.168990823C= | CA1306237643 | ABCB11 | c.886G= (p.Gly296=) c.928G= (p.Gly310=) c.988G= (p.Gly330=) c.217G= (p.Gly73=) | |
2 | g.168990823C>G | CA349125483 | ABCB11 | c.886G>C (p.Gly296Arg) c.928G>C (p.Gly310Arg) c.988G>C (p.Gly330Arg) c.217G>C (p.Gly73Arg) | |
2 | g.168990823C>T | CA349125484 | ABCB11 | c.886G>A (p.Gly296Ser) c.928G>A (p.Gly310Ser) c.988G>A (p.Gly330Ser) c.217G>A (p.Gly73Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.168990824A>C | CA429917079 | ABCB11 | c.885T>G (p.Gly295=) c.927T>G (p.Gly309=) c.987T>G (p.Gly329=) c.216T>G (p.Gly72=) | |
2 | g.168990824A>G | CA429917080 | ABCB11 | c.885T>C (p.Gly295=) c.927T>C (p.Gly309=) c.987T>C (p.Gly329=) c.216T>C (p.Gly72=) | |
2 | g.168990824A>T | CA429917078 | ABCB11 | c.885T>A (p.Gly295=) c.927T>A (p.Gly309=) c.987T>A (p.Gly329=) c.216T>A (p.Gly72=) | |
2 | g.168990825C>A | CA349125485 | ABCB11 | c.884G>T (p.Gly295Val) c.926G>T (p.Gly309Val) c.986G>T (p.Gly329Val) c.215G>T (p.Gly72Val) | |
2 | g.168990825C= | CA1306237649 | ABCB11 | c.884G= (p.Gly295=) c.926G= (p.Gly309=) c.986G= (p.Gly329=) c.215G= (p.Gly72=) | |
2 | g.168990825C>G | CA349125486 | ABCB11 | c.884G>C (p.Gly295Ala) c.926G>C (p.Gly309Ala) c.986G>C (p.Gly329Ala) c.215G>C (p.Gly72Ala) | |
2 | g.168990825C>T | CA1951778 | ABCB11 | c.884G>A (p.Gly295Asp) c.926G>A (p.Gly309Asp) c.986G>A (p.Gly329Asp) c.215G>A (p.Gly72Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.168990826dup | CA2695196979 | ABCB11 | c.884dup (p.Gly296TrpfsTer2) c.926dup (p.Gly310TrpfsTer2) c.986dup (p.Gly330TrpfsTer2) c.215dup (p.Gly73TrpfsTer2) | ClinVar |
2 | g.168990826C>A | CA59895308 | ABCB11 | c.883G>T (p.Gly295Cys) c.925G>T (p.Gly309Cys) c.985G>T (p.Gly329Cys) c.214G>T (p.Gly72Cys) | dbSNP |
2 | g.168990826C= | CA1306237655 | ABCB11 | c.883G= (p.Gly295=) c.925G= (p.Gly309=) c.985G= (p.Gly329=) c.214G= (p.Gly72=) | |
2 | g.168990826C>G | CA1951779 | ABCB11 | c.883G>C (p.Gly295Arg) c.925G>C (p.Gly309Arg) c.985G>C (p.Gly329Arg) c.214G>C (p.Gly72Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168990826C>T | CA349125487 | ABCB11 | c.883G>A (p.Gly295Ser) c.925G>A (p.Gly309Ser) c.985G>A (p.Gly329Ser) c.214G>A (p.Gly72Ser) | |
2 | g.168990827A= | CA1306237658 | ABCB11 | c.882T= (p.Phe294=) c.924T= (p.Phe308=) c.984T= (p.Phe328=) c.213T= (p.Phe71=) | |
2 | g.168990827A>C | CA349125488 | ABCB11 | c.882T>G (p.Phe294Leu) c.924T>G (p.Phe308Leu) c.984T>G (p.Phe328Leu) c.213T>G (p.Phe71Leu) | |
2 | g.168990827A>G | CA429917081 | ABCB11 | c.882T>C (p.Phe294=) c.924T>C (p.Phe308=) c.984T>C (p.Phe328=) c.213T>C (p.Phe71=) | ClinVar |
2 | g.168990827A>T | CA349125489 | ABCB11 | c.882T>A (p.Phe294Leu) c.924T>A (p.Phe308Leu) c.984T>A (p.Phe328Leu) c.213T>A (p.Phe71Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.168990828A>C | CA349125490 | ABCB11 | c.881T>G (p.Phe294Cys) c.923T>G (p.Phe308Cys) c.983T>G (p.Phe328Cys) c.212T>G (p.Phe71Cys) | |
2 | g.168990828A>G | CA349125491 | ABCB11 | c.881T>C (p.Phe294Ser) c.923T>C (p.Phe308Ser) c.983T>C (p.Phe328Ser) c.212T>C (p.Phe71Ser) | |
2 | g.168990828A>T | CA349125492 | ABCB11 | c.881T>A (p.Phe294Tyr) c.923T>A (p.Phe308Tyr) c.983T>A (p.Phe328Tyr) c.212T>A (p.Phe71Tyr) | |
2 | g.168990829A>C | CA349125493 | ABCB11 | c.880T>G (p.Phe294Val) c.922T>G (p.Phe308Val) c.982T>G (p.Phe328Val) c.211T>G (p.Phe71Val) | |
2 | g.168990829A>G | CA349125494 | ABCB11 | c.880T>C (p.Phe294Leu) c.922T>C (p.Phe308Leu) c.982T>C (p.Phe328Leu) c.211T>C (p.Phe71Leu) | |
2 | g.168990829A>T | CA349125495 | ABCB11 | c.880T>A (p.Phe294Ile) c.922T>A (p.Phe308Ile) c.982T>A (p.Phe328Ile) c.211T>A (p.Phe71Ile) | |
2 | g.168990830A>C | CA429917082 | ABCB11 | c.879T>G (p.Ala293=) c.921T>G (p.Ala307=) c.981T>G (p.Ala327=) c.210T>G (p.Ala70=) | |
2 | g.168990830A>G | CA429917083 | ABCB11 | c.879T>C (p.Ala293=) c.921T>C (p.Ala307=) c.981T>C (p.Ala327=) c.210T>C (p.Ala70=) | |
2 | g.168990830A>T | CA429917084 | ABCB11 | c.879T>A (p.Ala293=) c.921T>A (p.Ala307=) c.981T>A (p.Ala327=) c.210T>A (p.Ala70=) | |
2 | g.168990831G>A | CA349125497 | ABCB11 | c.878C>T (p.Ala293Val) c.920C>T (p.Ala307Val) c.980C>T (p.Ala327Val) c.209C>T (p.Ala70Val) | dbSNP gnomAD v2 |
2 | g.168990831G>C | CA1951780 | ABCB11 | c.878C>G (p.Ala293Gly) c.920C>G (p.Ala307Gly) c.980C>G (p.Ala327Gly) c.209C>G (p.Ala70Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.168990831G= | CA1306237661 | ABCB11 | c.878C= (p.Ala293=) c.920C= (p.Ala307=) c.980C= (p.Ala327=) c.209C= (p.Ala70=) | |
2 | g.168990831G>T | CA349125496 | ABCB11 | c.878C>A (p.Ala293Asp) c.920C>A (p.Ala307Asp) c.980C>A (p.Ala327Asp) c.209C>A (p.Ala70Asp) | |
2 | g.168990832C>A | CA349125499 | ABCB11 | c.877G>T (p.Ala293Ser) c.919G>T (p.Ala307Ser) c.979G>T (p.Ala327Ser) c.208G>T (p.Ala70Ser) | |
2 | g.168990832C>G | CA349125498 | ABCB11 | c.877G>C (p.Ala293Pro) c.919G>C (p.Ala307Pro) c.979G>C (p.Ala327Pro) c.208G>C (p.Ala70Pro) | |
2 | g.168990832C>T | CA349125500 | ABCB11 | c.877G>A (p.Ala293Thr) c.919G>A (p.Ala307Thr) c.979G>A (p.Ala327Thr) c.208G>A (p.Ala70Thr) |