Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.27173243G>A | CA373125147 | TEK | c.782G>A (p.Gly261Asp) c.341G>A (p.Gly114Asp) c.470G>A (p.Gly157Asp) | gnomAD v4 |
9 | g.27173243G>C | CA373125150 | TEK | c.782G>C (p.Gly261Ala) c.341G>C (p.Gly114Ala) c.470G>C (p.Gly157Ala) | |
9 | g.27173243G>T | CA373125153 | TEK | c.782G>T (p.Gly261Val) c.341G>T (p.Gly114Val) c.470G>T (p.Gly157Val) | |
9 | g.27173244C>A | CA464168634 | TEK | c.783C>A (p.Gly261=) c.342C>A (p.Gly114=) c.471C>A (p.Gly157=) | |
9 | g.27173244C= | CA1842021625 | TEK | c.783C= (p.Gly261=) c.342C= (p.Gly114=) c.471C= (p.Gly157=) | |
9 | g.27173244C>G | CA464168635 | TEK | c.783C>G (p.Gly261=) c.342C>G (p.Gly114=) c.471C>G (p.Gly157=) | |
9 | g.27173244C>T | CA5016021 | TEK | c.783C>T (p.Gly261=) c.342C>T (p.Gly114=) c.471C>T (p.Gly157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173245A>C | CA464168636 | TEK | c.784A>C (p.Arg262=) c.343A>C (p.Arg115=) c.472A>C (p.Arg158=) | |
9 | g.27173245A>G | CA373125159 | TEK | c.784A>G (p.Arg262Gly) c.343A>G (p.Arg115Gly) c.472A>G (p.Arg158Gly) | |
9 | g.27173245A>T | CA373125161 | TEK | c.784A>T (p.Arg262Ter) c.343A>T (p.Arg115Ter) c.472A>T (p.Arg158Ter) | |
9 | g.27173246G>A | CA373125165 | TEK | c.785G>A (p.Arg262Lys) c.344G>A (p.Arg115Lys) c.473G>A (p.Arg158Lys) | |
9 | g.27173246G>C | CA373125171 | TEK | c.785G>C (p.Arg262Thr) c.344G>C (p.Arg115Thr) c.473G>C (p.Arg158Thr) | |
9 | g.27173246G>T | CA373125168 | TEK | c.785G>T (p.Arg262Ile) c.344G>T (p.Arg115Ile) c.473G>T (p.Arg158Ile) | |
9 | g.27173247A>C | CA373125177 | TEK | c.786A>C (p.Arg262Ser) c.345A>C (p.Arg115Ser) c.474A>C (p.Arg158Ser) | |
9 | g.27173247A>G | CA464168639 | TEK | c.786A>G (p.Arg262=) c.345A>G (p.Arg115=) c.474A>G (p.Arg158=) | |
9 | g.27173247A>T | CA373125179 | TEK | c.786A>T (p.Arg262Ser) c.345A>T (p.Arg115Ser) c.474A>T (p.Arg158Ser) | |
9 | g.27173248A= | CA1842021629 | TEK | c.787A= (p.Thr263=) c.346A= (p.Thr116=) c.475A= (p.Thr159=) | |
9 | g.27173248A>C | CA373125183 | TEK | c.787A>C (p.Thr263Pro) c.346A>C (p.Thr116Pro) c.475A>C (p.Thr159Pro) | |
9 | g.27173248A>G | CA5016022 | TEK | c.787A>G (p.Thr263Ala) c.346A>G (p.Thr116Ala) c.475A>G (p.Thr159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173248A>T | CA373125187 | TEK | c.787A>T (p.Thr263Ser) c.346A>T (p.Thr116Ser) c.475A>T (p.Thr159Ser) | |
9 | g.27173249C>A | CA373125196 | TEK | c.788C>A (p.Thr263Asn) c.347C>A (p.Thr116Asn) c.476C>A (p.Thr159Asn) | |
9 | g.27173249C>G | CA373125199 | TEK | c.788C>G (p.Thr263Ser) c.347C>G (p.Thr116Ser) c.476C>G (p.Thr159Ser) | |
9 | g.27173249C>T | CA373125202 | TEK | c.788C>T (p.Thr263Ile) c.347C>T (p.Thr116Ile) c.476C>T (p.Thr159Ile) | gnomAD v4 |
9 | g.27173250T>A | CA464168641 | TEK | c.789T>A (p.Thr263=) c.348T>A (p.Thr116=) c.477T>A (p.Thr159=) | |
9 | g.27173250T>C | CA464168642 | TEK | c.789T>C (p.Thr263=) c.348T>C (p.Thr116=) c.477T>C (p.Thr159=) | |
9 | g.27173250T>G | CA464168643 | TEK | c.789T>G (p.Thr263=) c.348T>G (p.Thr116=) c.477T>G (p.Thr159=) | |
9 | g.27173251T>A | CA373125206 | TEK | c.790T>A (p.Cys264Ser) c.349T>A (p.Cys117Ser) c.478T>A (p.Cys160Ser) | |
9 | g.27173251T>C | CA373125210 | TEK | c.790T>C (p.Cys264Arg) c.349T>C (p.Cys117Arg) c.478T>C (p.Cys160Arg) | |
9 | g.27173251T>G | CA373125211 | TEK | c.790T>G (p.Cys264Gly) c.349T>G (p.Cys117Gly) c.478T>G (p.Cys160Gly) | |
9 | g.27173252G>A | CA373125217 | TEK | c.791G>A (p.Cys264Tyr) c.350G>A (p.Cys117Tyr) c.479G>A (p.Cys160Tyr) | |
9 | g.27173252G>C | CA373125222 | TEK | c.791G>C (p.Cys264Ser) c.350G>C (p.Cys117Ser) c.479G>C (p.Cys160Ser) | |
9 | g.27173252G>T | CA373125214 | TEK | c.791G>T (p.Cys264Phe) c.350G>T (p.Cys117Phe) c.479G>T (p.Cys160Phe) | |
9 | g.27173253T>A | CA373125229 | TEK | c.792T>A (p.Cys264Ter) c.351T>A (p.Cys117Ter) c.480T>A (p.Cys160Ter) | gnomAD v4 |
9 | g.27173253T>C | CA464168646 | TEK | c.792T>C (p.Cys264=) c.351T>C (p.Cys117=) c.480T>C (p.Cys160=) | |
9 | g.27173253T>G | CA373125226 | TEK | c.792T>G (p.Cys264Trp) c.351T>G (p.Cys117Trp) c.480T>G (p.Cys160Trp) | |
9 | g.27173254A>C | CA373125241 | TEK | c.793A>C (p.Lys265Gln) c.352A>C (p.Lys118Gln) c.481A>C (p.Lys161Gln) | |
9 | g.27173254A>G | CA373125232 | TEK | c.793A>G (p.Lys265Glu) c.352A>G (p.Lys118Glu) c.481A>G (p.Lys161Glu) | gnomAD v4 |
9 | g.27173254A>T | CA373125239 | TEK | c.793A>T (p.Lys265Ter) c.352A>T (p.Lys118Ter) c.481A>T (p.Lys161Ter) | |
9 | g.27173255A>C | CA373125244 | TEK | c.794A>C (p.Lys265Thr) c.353A>C (p.Lys118Thr) c.482A>C (p.Lys161Thr) | |
9 | g.27173255A>G | CA373125246 | TEK | c.794A>G (p.Lys265Arg) c.353A>G (p.Lys118Arg) c.482A>G (p.Lys161Arg) | |
9 | g.27173255A>T | CA373125248 | TEK | c.794A>T (p.Lys265Ile) c.353A>T (p.Lys118Ile) c.482A>T (p.Lys161Ile) | |
9 | g.27173256A= | CA1842021633 | TEK | c.795A= (p.Lys265=) c.354A= (p.Lys118=) c.483A= (p.Lys161=) | |
9 | g.27173256A>C | CA373125250 | TEK | c.795A>C (p.Lys265Asn) c.354A>C (p.Lys118Asn) c.483A>C (p.Lys161Asn) | |
9 | g.27173256A>G | CA5016023 | TEK | c.795A>G (p.Lys265=) c.354A>G (p.Lys118=) c.483A>G (p.Lys161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173256A>T | CA373125257 | TEK | c.795A>T (p.Lys265Asn) c.354A>T (p.Lys118Asn) c.483A>T (p.Lys161Asn) | |
9 | g.27173257G>A | CA373125261 | TEK | c.796G>A (p.Glu266Lys) c.355G>A (p.Glu119Lys) c.484G>A (p.Glu162Lys) | |
9 | g.27173257G>C | CA373125264 | TEK | c.796G>C (p.Glu266Gln) c.355G>C (p.Glu119Gln) c.484G>C (p.Glu162Gln) | dbSNP |
9 | g.27173257G= | CA1842021639 | TEK | c.796G= (p.Glu266=) c.355G= (p.Glu119=) c.484G= (p.Glu162=) | |
9 | g.27173257G>T | CA373125267 | TEK | c.796G>T (p.Glu266Ter) c.355G>T (p.Glu119Ter) c.484G>T (p.Glu162Ter) | |
9 | g.27173258A>C | CA373125276 | TEK | c.797A>C (p.Glu266Ala) c.356A>C (p.Glu119Ala) c.485A>C (p.Glu162Ala) |