| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133756868G>A | CA435806287 | TF | c.729G>A (p.Glu243=) c.348G>A (p.Glu116=) c.158-64G>A (n.158-64G>A) c.597G>A (p.Glu199=) | |
| 3 | g.133756868G>C | CA354604747 | TF | c.729G>C (p.Glu243Asp) c.348G>C (p.Glu116Asp) c.158-64G>C (n.158-64G>C) c.597G>C (p.Glu199Asp) | |
| 3 | g.133756868G>T | CA354604750 | TF | c.729G>T (p.Glu243Asp) c.348G>T (p.Glu116Asp) c.158-64G>T (n.158-64G>T) c.597G>T (p.Glu199Asp) | |
| 3 | g.133756869C>A | CA354604752 | TF | c.730C>A (p.Leu244Met) c.349C>A (p.Leu117Met) c.158-63C>A (n.158-63C>A) c.598C>A (p.Leu200Met) | |
| 3 | g.133756869C= | CA1403107174 | TF | c.730C= (p.Leu244=) c.349C= (p.Leu117=) c.158-63C= (n.158-63C=) c.598C= (p.Leu200=) | |
| 3 | g.133756869C>G | CA354604755 | TF | c.730C>G (p.Leu244Val) c.349C>G (p.Leu117Val) c.158-63C>G (n.158-63C>G) c.598C>G (p.Leu200Val) | |
| 3 | g.133756869C>T | CA2625082 | TF | c.730C>T (p.Leu244=) c.349C>T (p.Leu117=) c.158-63C>T (n.158-63C>T) c.598C>T (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756870T>A | CA354604759 | TF | c.731T>A (p.Leu244Gln) c.350T>A (p.Leu117Gln) c.158-62T>A (n.158-62T>A) c.599T>A (p.Leu200Gln) | |
| 3 | g.133756870T>C | CA354604760 | TF | c.731T>C (p.Leu244Pro) c.350T>C (p.Leu117Pro) c.158-62T>C (n.158-62T>C) c.599T>C (p.Leu200Pro) | |
| 3 | g.133756870T>G | CA354604761 | TF | c.731T>G (p.Leu244Arg) c.350T>G (p.Leu117Arg) c.158-62T>G (n.158-62T>G) c.599T>G (p.Leu200Arg) | |
| 3 | g.133756871G>A | CA2625083 | TF | c.732G>A (p.Leu244=) c.351G>A (p.Leu117=) c.158-61G>A (n.158-61G>A) c.600G>A (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756871G>C | CA435806294 | TF | c.732G>C (p.Leu244=) c.351G>C (p.Leu117=) c.158-61G>C (n.158-61G>C) c.600G>C (p.Leu200=) | |
| 3 | g.133756871G= | CA1403107178 | TF | c.732G= (p.Leu244=) c.351G= (p.Leu117=) c.158-61G= (n.158-61G=) c.600G= (p.Leu200=) | |
| 3 | g.133756871G>T | CA435806295 | TF | c.732G>T (p.Leu244=) c.351G>T (p.Leu117=) c.158-61G>T (n.158-61G>T) c.600G>T (p.Leu200=) | gnomAD v4 |
| 3 | g.133756872C>A | CA354604762 | TF | c.733C>A (p.Leu245Ile) c.352C>A (p.Leu118Ile) c.158-60C>A (n.158-60C>A) c.601C>A (p.Leu201Ile) | |
| 3 | g.133756872C= | CA1403107182 | TF | c.733C= (p.Leu245=) c.352C= (p.Leu118=) c.158-60C= (n.158-60C=) c.601C= (p.Leu201=) | |
| 3 | g.133756872C>G | CA354604763 | TF | c.733C>G (p.Leu245Val) c.352C>G (p.Leu118Val) c.158-60C>G (n.158-60C>G) c.601C>G (p.Leu201Val) | |
| 3 | g.133756872C>T | CA354604764 | TF | c.733C>T (p.Leu245Phe) c.352C>T (p.Leu118Phe) c.158-60C>T (n.158-60C>T) c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133756873T>A | CA354604767 | TF | c.734T>A (p.Leu245His) c.353T>A (p.Leu118His) c.158-59T>A (n.158-59T>A) c.602T>A (p.Leu201His) | |
| 3 | g.133756873T>C | CA354604766 | TF | c.734T>C (p.Leu245Pro) c.353T>C (p.Leu118Pro) c.158-59T>C (n.158-59T>C) c.602T>C (p.Leu201Pro) | gnomAD v4 |
| 3 | g.133756873T>G | CA354604765 | TF | c.734T>G (p.Leu245Arg) c.353T>G (p.Leu118Arg) c.158-59T>G (n.158-59T>G) c.602T>G (p.Leu201Arg) | |
| 3 | g.133756874T>A | CA435806303 | TF | c.735T>A (p.Leu245=) c.354T>A (p.Leu118=) c.158-58T>A (n.158-58T>A) c.603T>A (p.Leu201=) | |
| 3 | g.133756874T>C | CA435806301 | TF | c.735T>C (p.Leu245=) c.354T>C (p.Leu118=) c.158-58T>C (n.158-58T>C) c.603T>C (p.Leu201=) | |
| 3 | g.133756874T>G | CA435806302 | TF | c.735T>G (p.Leu245=) c.354T>G (p.Leu118=) c.158-58T>G (n.158-58T>G) c.603T>G (p.Leu201=) | |
| 3 | g.133756875T>A | CA354604768 | TF | c.736T>A (p.Cys246Ser) c.355T>A (p.Cys119Ser) c.158-57T>A (n.158-57T>A) c.604T>A (p.Cys202Ser) | |
| 3 | g.133756875T>C | CA354604770 | TF | c.736T>C (p.Cys246Arg) c.355T>C (p.Cys119Arg) c.158-57T>C (n.158-57T>C) c.604T>C (p.Cys202Arg) | |
| 3 | g.133756875T>G | CA354604769 | TF | c.736T>G (p.Cys246Gly) c.355T>G (p.Cys119Gly) c.158-57T>G (n.158-57T>G) c.604T>G (p.Cys202Gly) | |
| 3 | g.133756876G>A | CA354604771 | TF | c.737G>A (p.Cys246Tyr) c.356G>A (p.Cys119Tyr) c.158-56G>A (n.158-56G>A) c.605G>A (p.Cys202Tyr) | COSMIC |
| 3 | g.133756876G>C | CA354604773 | TF | c.737G>C (p.Cys246Ser) c.356G>C (p.Cys119Ser) c.158-56G>C (n.158-56G>C) c.605G>C (p.Cys202Ser) | |
| 3 | g.133756876G>T | CA354604772 | TF | c.737G>T (p.Cys246Phe) c.356G>T (p.Cys119Phe) c.158-56G>T (n.158-56G>T) c.605G>T (p.Cys202Phe) | |
| 3 | g.133756877C>A | CA354604774 | TF | c.738C>A (p.Cys246Ter) c.357C>A (p.Cys119Ter) c.158-55C>A (n.158-55C>A) c.606C>A (p.Cys202Ter) | |
| 3 | g.133756877C>G | CA354604775 | TF | c.738C>G (p.Cys246Trp) c.357C>G (p.Cys119Trp) c.158-55C>G (n.158-55C>G) c.606C>G (p.Cys202Trp) | |
| 3 | g.133756877C>T | CA435806315 | TF | c.738C>T (p.Cys246=) c.357C>T (p.Cys119=) c.158-55C>T (n.158-55C>T) c.606C>T (p.Cys202=) | |
| 3 | g.133756878C>A | CA354604776 | TF | c.739C>A (p.Leu247Met) c.358C>A (p.Leu120Met) c.158-54C>A (n.158-54C>A) c.607C>A (p.Leu203Met) | dbSNP |
| 3 | g.133756878C= | CA1403107191 | TF | c.739C= (p.Leu247=) c.358C= (p.Leu120=) c.158-54C= (n.158-54C=) c.607C= (p.Leu203=) | |
| 3 | g.133756878C>G | CA354604777 | TF | c.739C>G (p.Leu247Val) c.358C>G (p.Leu120Val) c.158-54C>G (n.158-54C>G) c.607C>G (p.Leu203Val) | |
| 3 | g.133756878C>T | CA2625084 | TF | c.739C>T (p.Leu247=) c.358C>T (p.Leu120=) c.158-54C>T (n.158-54C>T) c.607C>T (p.Leu203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756879T>A | CA354604778 | TF | c.740T>A (p.Leu247Gln) c.359T>A (p.Leu120Gln) c.158-53T>A (n.158-53T>A) c.608T>A (p.Leu203Gln) | |
| 3 | g.133756879T>C | CA354604779 | TF | c.740T>C (p.Leu247Pro) c.359T>C (p.Leu120Pro) c.158-53T>C (n.158-53T>C) c.608T>C (p.Leu203Pro) | |
| 3 | g.133756879T>G | CA354604780 | TF | c.740T>G (p.Leu247Arg) c.359T>G (p.Leu120Arg) c.158-53T>G (n.158-53T>G) c.608T>G (p.Leu203Arg) | gnomAD v4 |
| 3 | g.133756880G>A | CA2625085 | TF | c.741G>A (p.Leu247=) c.360G>A (p.Leu120=) c.158-52G>A (n.158-52G>A) c.609G>A (p.Leu203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756880G>C | CA435806325 | TF | c.741G>C (p.Leu247=) c.360G>C (p.Leu120=) c.158-52G>C (n.158-52G>C) c.609G>C (p.Leu203=) | |
| 3 | g.133756880G= | CA1403107193 | TF | c.741G= (p.Leu247=) c.360G= (p.Leu120=) c.158-52G= (n.158-52G=) c.609G= (p.Leu203=) | |
| 3 | g.133756880G>T | CA435806327 | TF | c.741G>T (p.Leu247=) c.360G>T (p.Leu120=) c.158-52G>T (n.158-52G>T) c.609G>T (p.Leu203=) | |
| 3 | g.133756881G>A | CA354604781 | TF | c.742G>A (p.Asp248Asn) c.361G>A (p.Asp121Asn) c.158-51G>A (n.158-51G>A) c.610G>A (p.Asp204Asn) | |
| 3 | g.133756881G>C | CA354604782 | TF | c.742G>C (p.Asp248His) c.361G>C (p.Asp121His) c.158-51G>C (n.158-51G>C) c.610G>C (p.Asp204His) | |
| 3 | g.133756881G>T | CA354604783 | TF | c.742G>T (p.Asp248Tyr) c.361G>T (p.Asp121Tyr) c.158-51G>T (n.158-51G>T) c.610G>T (p.Asp204Tyr) | |
| 3 | g.133756882A>C | CA354604784 | TF | c.743A>C (p.Asp248Ala) c.362A>C (p.Asp121Ala) c.158-50A>C (n.158-50A>C) c.611A>C (p.Asp204Ala) | |
| 3 | g.133756882A>G | CA354604785 | TF | c.743A>G (p.Asp248Gly) c.362A>G (p.Asp121Gly) c.158-50A>G (n.158-50A>G) c.611A>G (p.Asp204Gly) | |
| 3 | g.133756882A>T | CA354604786 | TF | c.743A>T (p.Asp248Val) c.362A>T (p.Asp121Val) c.158-50A>T (n.158-50A>T) c.611A>T (p.Asp204Val) |