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 |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.133756883C>A | CA2625086 | TF | c.744C>A (p.Asp248Glu) c.363C>A (p.Asp121Glu) c.158-49C>A (n.158-49C>A) c.612C>A (p.Asp204Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756883C= | CA1403107202 | TF | c.744C= (p.Asp248=) c.363C= (p.Asp121=) c.158-49C= (n.158-49C=) c.612C= (p.Asp204=) | |
| 3 | g.133756883C>G | CA354604787 | TF | c.744C>G (p.Asp248Glu) c.363C>G (p.Asp121Glu) c.158-49C>G (n.158-49C>G) c.612C>G (p.Asp204Glu) | |
| 3 | g.133756883C>T | CA2625087 | TF | c.744C>T (p.Asp248=) c.363C>T (p.Asp121=) c.158-49C>T (n.158-49C>T) c.612C>T (p.Asp204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756884A>C | CA354604788 | TF | c.745A>C (p.Asn249His) c.364A>C (p.Asn122His) c.158-48A>C (n.158-48A>C) c.613A>C (p.Asn205His) | |
| 3 | g.133756884A>G | CA354604789 | TF | c.745A>G (p.Asn249Asp) c.364A>G (p.Asn122Asp) c.158-48A>G (n.158-48A>G) c.613A>G (p.Asn205Asp) | |
| 3 | g.133756884A>T | CA354604790 | TF | c.745A>T (p.Asn249Tyr) c.364A>T (p.Asn122Tyr) c.158-48A>T (n.158-48A>T) c.613A>T (p.Asn205Tyr) | |
| 3 | g.133756885del | CA2667764514 | TF | c.746del (p.Asn249ThrfsTer6) c.365del (p.Asn122ThrfsTer6) c.158-47del (n.158-47del) c.614del (p.Asn205ThrfsTer6) | gnomAD v4 |
| 3 | g.133756885A= | CA1403107205 | TF | c.746A= (p.Asn249=) c.365A= (p.Asn122=) c.158-47A= (n.158-47A=) c.614A= (p.Asn205=) | |
| 3 | g.133756885A>C | CA354604791 | TF | c.746A>C (p.Asn249Thr) c.365A>C (p.Asn122Thr) c.158-47A>C (n.158-47A>C) c.614A>C (p.Asn205Thr) | |
| 3 | g.133756885A>G | CA354604792 | TF | c.746A>G (p.Asn249Ser) c.365A>G (p.Asn122Ser) c.158-47A>G (n.158-47A>G) c.614A>G (p.Asn205Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756885A>T | CA354604793 | TF | c.746A>T (p.Asn249Ile) c.365A>T (p.Asn122Ile) c.158-47A>T (n.158-47A>T) c.614A>T (p.Asn205Ile) | |
| 3 | g.133756886C>A | CA354604794 | TF | c.747C>A (p.Asn249Lys) c.366C>A (p.Asn122Lys) c.158-46C>A (n.158-46C>A) c.615C>A (p.Asn205Lys) | |
| 3 | g.133756886C= | CA1403107209 | TF | c.747C= (p.Asn249=) c.366C= (p.Asn122=) c.158-46C= (n.158-46C=) c.615C= (p.Asn205=) | |
| 3 | g.133756886C>G | CA354604795 | TF | c.747C>G (p.Asn249Lys) c.366C>G (p.Asn122Lys) c.158-46C>G (n.158-46C>G) c.615C>G (p.Asn205Lys) | |
| 3 | g.133756886C>T | CA435806349 | TF | c.747C>T (p.Asn249=) c.366C>T (p.Asn122=) c.158-46C>T (n.158-46C>T) c.615C>T (p.Asn205=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.133756887A= | CA1403107217 | TF | c.748A= (p.Thr250=) c.367A= (p.Thr123=) c.158-45A= (n.158-45A=) c.616A= (p.Thr206=) | |
| 3 | g.133756887A>C | CA354604796 | TF | c.748A>C (p.Thr250Pro) c.367A>C (p.Thr123Pro) c.158-45A>C (n.158-45A>C) c.616A>C (p.Thr206Pro) | dbSNP |
| 3 | g.133756887A>G | CA83674522 | TF | c.748A>G (p.Thr250Ala) c.367A>G (p.Thr123Ala) c.158-45A>G (n.158-45A>G) c.616A>G (p.Thr206Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756887A>T | CA354604797 | TF | c.748A>T (p.Thr250Ser) c.367A>T (p.Thr123Ser) c.158-45A>T (n.158-45A>T) c.616A>T (p.Thr206Ser) | |
| 3 | g.133756888C>A | CA354604799 | TF | c.749C>A (p.Thr250Asn) c.368C>A (p.Thr123Asn) c.158-44C>A (n.158-44C>A) c.617C>A (p.Thr206Asn) | |
| 3 | g.133756888C= | CA1403107225 | TF | c.749C= (p.Thr250=) c.368C= (p.Thr123=) c.158-44C= (n.158-44C=) c.617C= (p.Thr206=) | |
| 3 | g.133756888C>G | CA2625088 | TF | c.749C>G (p.Thr250Ser) c.368C>G (p.Thr123Ser) c.158-44C>G (n.158-44C>G) c.617C>G (p.Thr206Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756888C>T | CA354604798 | TF | c.749C>T (p.Thr250Ile) c.368C>T (p.Thr123Ile) c.158-44C>T (n.158-44C>T) c.617C>T (p.Thr206Ile) | |
| 3 | g.133756889C>A | CA435806357 | TF | c.750C>A (p.Thr250=) c.369C>A (p.Thr123=) c.158-43C>A (n.158-43C>A) c.618C>A (p.Thr206=) | ClinVar |
| 3 | g.133756889C>G | CA435806358 | TF | c.750C>G (p.Thr250=) c.369C>G (p.Thr123=) c.158-43C>G (n.158-43C>G) c.618C>G (p.Thr206=) | COSMIC |
| 3 | g.133756889C>T | CA435806360 | TF | c.750C>T (p.Thr250=) c.369C>T (p.Thr123=) c.158-43C>T (n.158-43C>T) c.618C>T (p.Thr206=) | |
| 3 | g.133756890C>A | CA435806362 | TF | c.751C>A (p.Arg251=) c.370C>A (p.Arg124=) c.158-42C>A (n.158-42C>A) c.619C>A (p.Arg207=) | |
| 3 | g.133756890C= | CA1403107240 | TF | c.751C= (p.Arg251=) c.370C= (p.Arg124=) c.158-42C= (n.158-42C=) c.619C= (p.Arg207=) | |
| 3 | g.133756890C>G | CA354604800 | TF | c.751C>G (p.Arg251Gly) c.370C>G (p.Arg124Gly) c.158-42C>G (n.158-42C>G) c.619C>G (p.Arg207Gly) | |
| 3 | g.133756890C>T | CA2625089 | TF | c.751C>T (p.Arg251Trp) c.370C>T (p.Arg124Trp) c.158-42C>T (n.158-42C>T) c.619C>T (p.Arg207Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756891G>A | CA83674532 | TF | c.752G>A (p.Arg251Gln) c.371G>A (p.Arg124Gln) c.158-41G>A (n.158-41G>A) c.620G>A (p.Arg207Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133756891G>C | CA354604801 | TF | c.752G>C (p.Arg251Pro) c.371G>C (p.Arg124Pro) c.158-41G>C (n.158-41G>C) c.620G>C (p.Arg207Pro) | |
| 3 | g.133756891G= | CA1403107251 | TF | c.752G= (p.Arg251=) c.371G= (p.Arg124=) c.158-41G= (n.158-41G=) c.620G= (p.Arg207=) | |
| 3 | g.133756891G>T | CA354604802 | TF | c.752G>T (p.Arg251Leu) c.371G>T (p.Arg124Leu) c.158-41G>T (n.158-41G>T) c.620G>T (p.Arg207Leu) | |
| 3 | g.133756892G>A | CA435806369 | TF | c.753G>A (p.Arg251=) c.372G>A (p.Arg124=) c.158-40G>A (n.158-40G>A) c.621G>A (p.Arg207=) | |
| 3 | g.133756892G>C | CA435806371 | TF | c.753G>C (p.Arg251=) c.372G>C (p.Arg124=) c.158-40G>C (n.158-40G>C) c.621G>C (p.Arg207=) | |
| 3 | g.133756892G>T | CA435806373 | TF | c.753G>T (p.Arg251=) c.372G>T (p.Arg124=) c.158-40G>T (n.158-40G>T) c.621G>T (p.Arg207=) | |
| 3 | g.133756893A>C | CA354604803 | TF | c.754A>C (p.Lys252Gln) c.373A>C (p.Lys125Gln) c.158-39A>C (n.158-39A>C) c.622A>C (p.Lys208Gln) | |
| 3 | g.133756893A>G | CA354604804 | TF | c.754A>G (p.Lys252Glu) c.373A>G (p.Lys125Glu) c.158-39A>G (n.158-39A>G) c.622A>G (p.Lys208Glu) | |
| 3 | g.133756893A>T | CA354604805 | TF | c.754A>T (p.Lys252Ter) c.373A>T (p.Lys125Ter) c.158-39A>T (n.158-39A>T) c.622A>T (p.Lys208Ter) | |
| 3 | g.133756894A= | CA1403107258 | TF | c.755A= (p.Lys252=) c.374A= (p.Lys125=) c.158-38A= (n.158-38A=) c.623A= (p.Lys208=) | |
| 3 | g.133756894A>C | CA354604806 | TF | c.755A>C (p.Lys252Thr) c.374A>C (p.Lys125Thr) c.158-38A>C (n.158-38A>C) c.623A>C (p.Lys208Thr) | |
| 3 | g.133756894A>G | CA354604807 | TF | c.755A>G (p.Lys252Arg) c.374A>G (p.Lys125Arg) c.158-38A>G (n.158-38A>G) c.623A>G (p.Lys208Arg) | dbSNP |
| 3 | g.133756894A>T | CA354604808 | TF | c.755A>T (p.Lys252Met) c.374A>T (p.Lys125Met) c.158-38A>T (n.158-38A>T) c.623A>T (p.Lys208Met) | |
| 3 | g.133756895G>A | CA2625090 | TF | c.756G>A (p.Lys252=) c.375G>A (p.Lys125=) c.158-37G>A (n.158-37G>A) c.624G>A (p.Lys208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756895G>C | CA354604810 | TF | c.756G>C (p.Lys252Asn) c.375G>C (p.Lys125Asn) c.158-37G>C (n.158-37G>C) c.624G>C (p.Lys208Asn) | |
| 3 | g.133756895G= | CA1403107260 | TF | c.756G= (p.Lys252=) c.375G= (p.Lys125=) c.158-37G= (n.158-37G=) c.624G= (p.Lys208=) | |
| 3 | g.133756895G>T | CA354604809 | TF | c.756G>T (p.Lys252Asn) c.375G>T (p.Lys125Asn) c.158-37G>T (n.158-37G>T) c.624G>T (p.Lys208Asn) | |
| 3 | g.133756896C>A | CA354604811 | TF | c.757C>A (p.Pro253Thr) c.376C>A (p.Pro126Thr) c.158-36C>A (n.158-36C>A) c.625C>A (p.Pro209Thr) | |
| 3 | g.133756896C= | CA1403107261 | TF | c.757C= (p.Pro253=) c.376C= (p.Pro126=) c.158-36C= (n.158-36C=) c.625C= (p.Pro209=) | |
| 3 | g.133756896C>G | CA354604812 | TF | c.757C>G (p.Pro253Ala) c.376C>G (p.Pro126Ala) c.158-36C>G (n.158-36C>G) c.625C>G (p.Pro209Ala) | |
| 3 | g.133756896C>T | CA2625091 | TF | c.757C>T (p.Pro253Ser) c.376C>T (p.Pro126Ser) c.158-36C>T (n.158-36C>T) c.625C>T (p.Pro209Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756897C>A | CA354604813 | TF | c.758C>A (p.Pro253Gln) c.377C>A (p.Pro126Gln) c.158-35C>A (n.158-35C>A) c.626C>A (p.Pro209Gln) | |
| 3 | g.133756897C= | CA1403107266 | TF | c.758C= (p.Pro253=) c.377C= (p.Pro126=) c.158-35C= (n.158-35C=) c.626C= (p.Pro209=) | |
| 3 | g.133756897C>G | CA354604814 | TF | c.758C>G (p.Pro253Arg) c.377C>G (p.Pro126Arg) c.158-35C>G (n.158-35C>G) c.626C>G (p.Pro209Arg) | |
| 3 | g.133756897C>T | CA2625092 | TF | c.758C>T (p.Pro253Leu) c.377C>T (p.Pro126Leu) c.158-35C>T (n.158-35C>T) c.626C>T (p.Pro209Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.133756898G>A | CA2625093 | TF | c.759G>A (p.Pro253=) c.378G>A (p.Pro126=) c.158-34G>A (n.158-34G>A) c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133756898G>C | CA435806394 | TF | c.759G>C (p.Pro253=) c.378G>C (p.Pro126=) c.158-34G>C (n.158-34G>C) c.627G>C (p.Pro209=) | |
| 3 | g.133756898G= | CA1403107274 | TF | c.759G= (p.Pro253=) c.378G= (p.Pro126=) c.158-34G= (n.158-34G=) c.627G= (p.Pro209=) | |
| 3 | g.133756898G>T | CA435806396 | TF | c.759G>T (p.Pro253=) c.378G>T (p.Pro126=) c.158-34G>T (n.158-34G>T) c.627G>T (p.Pro209=) | gnomAD v4 |
| 3 | g.133756899G>A | CA354604815 | TF | c.760G>A (p.Val254Ile) c.379G>A (p.Val127Ile) c.158-33G>A (n.158-33G>A) c.628G>A (p.Val210Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756899G>C | CA354604816 | TF | c.760G>C (p.Val254Leu) c.379G>C (p.Val127Leu) c.158-33G>C (n.158-33G>C) c.628G>C (p.Val210Leu) | |
| 3 | g.133756899G= | CA1403107277 | TF | c.760G= (p.Val254=) c.379G= (p.Val127=) c.158-33G= (n.158-33G=) c.628G= (p.Val210=) | |
| 3 | g.133756899G>T | CA354604817 | TF | c.760G>T (p.Val254Leu) c.379G>T (p.Val127Leu) c.158-33G>T (n.158-33G>T) c.628G>T (p.Val210Leu) | |
| 3 | g.133756900T>A | CA354604818 | TF | c.761T>A (p.Val254Glu) c.380T>A (p.Val127Glu) c.158-32T>A (n.158-32T>A) c.629T>A (p.Val210Glu) | |
| 3 | g.133756900T>C | CA354604819 | TF | c.761T>C (p.Val254Ala) c.380T>C (p.Val127Ala) c.158-32T>C (n.158-32T>C) c.629T>C (p.Val210Ala) | |
| 3 | g.133756900T>G | CA354604820 | TF | c.761T>G (p.Val254Gly) c.380T>G (p.Val127Gly) c.158-32T>G (n.158-32T>G) c.629T>G (p.Val210Gly) | |
| 3 | g.133756901A>C | CA435806405 | TF | c.762A>C (p.Val254=) c.381A>C (p.Val127=) c.158-31A>C (n.158-31A>C) c.630A>C (p.Val210=) | |
| 3 | g.133756901A>G | CA435806407 | TF | c.762A>G (p.Val254=) c.381A>G (p.Val127=) c.158-31A>G (n.158-31A>G) c.630A>G (p.Val210=) | |
| 3 | g.133756901A>T | CA435806409 | TF | c.762A>T (p.Val254=) c.381A>T (p.Val127=) c.158-31A>T (n.158-31A>T) c.630A>T (p.Val210=) | |
| 3 | g.133756902G>A | CA354604823 | TF | c.763G>A (p.Asp255Asn) c.382G>A (p.Asp128Asn) c.158-30G>A (n.158-30G>A) c.631G>A (p.Asp211Asn) | |
| 3 | g.133756902G>C | CA354604822 | TF | c.763G>C (p.Asp255His) c.382G>C (p.Asp128His) c.158-30G>C (n.158-30G>C) c.631G>C (p.Asp211His) | |
| 3 | g.133756902G>T | CA354604821 | TF | c.763G>T (p.Asp255Tyr) c.382G>T (p.Asp128Tyr) c.158-30G>T (n.158-30G>T) c.631G>T (p.Asp211Tyr) | |
| 3 | g.133756903A>C | CA354604824 | TF | c.764A>C (p.Asp255Ala) c.383A>C (p.Asp128Ala) c.158-29A>C (n.158-29A>C) c.632A>C (p.Asp211Ala) | |
| 3 | g.133756903A>G | CA354604825 | TF | c.764A>G (p.Asp255Gly) c.383A>G (p.Asp128Gly) c.158-29A>G (n.158-29A>G) c.632A>G (p.Asp211Gly) | |
| 3 | g.133756903A>T | CA354604826 | TF | c.764A>T (p.Asp255Val) c.383A>T (p.Asp128Val) c.158-29A>T (n.158-29A>T) c.632A>T (p.Asp211Val) | |
| 3 | g.133756904T>A | CA354604827 | TF | c.765T>A (p.Asp255Glu) c.384T>A (p.Asp128Glu) c.158-28T>A (n.158-28T>A) c.633T>A (p.Asp211Glu) | |
| 3 | g.133756904T>C | CA435806418 | TF | c.765T>C (p.Asp255=) c.384T>C (p.Asp128=) c.158-28T>C (n.158-28T>C) c.633T>C (p.Asp211=) | |
| 3 | g.133756904T>G | CA83674545 | TF | c.765T>G (p.Asp255Glu) c.384T>G (p.Asp128Glu) c.158-28T>G (n.158-28T>G) c.633T>G (p.Asp211Glu) | dbSNP |
| 3 | g.133756904T= | CA1403107280 | TF | c.765T= (p.Asp255=) c.384T= (p.Asp128=) c.158-28T= (n.158-28T=) c.633T= (p.Asp211=) | |
| 3 | g.133756905G>A | CA354604828 | TF | c.766G>A (p.Glu256Lys) c.385G>A (p.Glu129Lys) c.158-27G>A (n.158-27G>A) c.634G>A (p.Glu212Lys) | |
| 3 | g.133756905G>C | CA354604829 | TF | c.766G>C (p.Glu256Gln) c.385G>C (p.Glu129Gln) c.158-27G>C (n.158-27G>C) c.634G>C (p.Glu212Gln) | |
| 3 | g.133756905G>T | CA354604830 | TF | c.766G>T (p.Glu256Ter) c.385G>T (p.Glu129Ter) c.158-27G>T (n.158-27G>T) c.634G>T (p.Glu212Ter) | gnomAD v4 |
| 3 | g.133756906A>C | CA354604831 | TF | c.767A>C (p.Glu256Ala) c.386A>C (p.Glu129Ala) c.158-26A>C (n.158-26A>C) c.635A>C (p.Glu212Ala) | |
| 3 | g.133756906A>G | CA354604832 | TF | c.767A>G (p.Glu256Gly) c.386A>G (p.Glu129Gly) c.158-26A>G (n.158-26A>G) c.635A>G (p.Glu212Gly) | |
| 3 | g.133756906A>T | CA354604833 | TF | c.767A>T (p.Glu256Val) c.386A>T (p.Glu129Val) c.158-26A>T (n.158-26A>T) c.635A>T (p.Glu212Val) | |
| 3 | g.133756907A>C | CA354604834 | TF | c.768A>C (p.Glu256Asp) c.387A>C (p.Glu129Asp) c.158-25A>C (n.158-25A>C) c.636A>C (p.Glu212Asp) | |
| 3 | g.133756907A>G | CA435806429 | TF | c.768A>G (p.Glu256=) c.387A>G (p.Glu129=) c.158-25A>G (n.158-25A>G) c.636A>G (p.Glu212=) | gnomAD v4 |
| 3 | g.133756907A>T | CA354604835 | TF | c.768A>T (p.Glu256Asp) c.387A>T (p.Glu129Asp) c.158-25A>T (n.158-25A>T) c.636A>T (p.Glu212Asp) | |
| 3 | g.133756908T>A | CA354604838 | TF | c.769T>A (p.Tyr257Asn) c.388T>A (p.Tyr130Asn) c.158-24T>A (n.158-24T>A) c.637T>A (p.Tyr213Asn) | |
| 3 | g.133756908T>C | CA354604837 | TF | c.769T>C (p.Tyr257His) c.388T>C (p.Tyr130His) c.158-24T>C (n.158-24T>C) c.637T>C (p.Tyr213His) | gnomAD v4 |
| 3 | g.133756908T>G | CA354604836 | TF | c.769T>G (p.Tyr257Asp) c.388T>G (p.Tyr130Asp) c.158-24T>G (n.158-24T>G) c.637T>G (p.Tyr213Asp) | |
| 3 | g.133756909A= | CA1403107288 | TF | c.770A= (p.Tyr257=) c.389A= (p.Tyr130=) c.158-23A= (n.158-23A=) c.638A= (p.Tyr213=) | |
| 3 | g.133756909A>C | CA354604839 | TF | c.770A>C (p.Tyr257Ser) c.389A>C (p.Tyr130Ser) c.158-23A>C (n.158-23A>C) c.638A>C (p.Tyr213Ser) | |
| 3 | g.133756909A>G | CA354604840 | TF | c.770A>G (p.Tyr257Cys) c.389A>G (p.Tyr130Cys) c.158-23A>G (n.158-23A>G) c.638A>G (p.Tyr213Cys) | dbSNP |
| 3 | g.133756909A>T | CA354604841 | TF | c.770A>T (p.Tyr257Phe) c.389A>T (p.Tyr130Phe) c.158-23A>T (n.158-23A>T) c.638A>T (p.Tyr213Phe) | |
| 3 | g.133756910C>A | CA354604842 | TF | c.771C>A (p.Tyr257Ter) c.390C>A (p.Tyr130Ter) c.158-22C>A (n.158-22C>A) c.639C>A (p.Tyr213Ter) | |
| 3 | g.133756910C>G | CA354604843 | TF | c.771C>G (p.Tyr257Ter) c.390C>G (p.Tyr130Ter) c.158-22C>G (n.158-22C>G) c.639C>G (p.Tyr213Ter) | |
| 3 | g.133756910C>T | CA435806440 | TF | c.771C>T (p.Tyr257=) c.390C>T (p.Tyr130=) c.158-22C>T (n.158-22C>T) c.639C>T (p.Tyr213=) | gnomAD v4 |
| 3 | g.133756911A>C | CA354604844 | TF | c.772A>C (p.Lys258Gln) c.391A>C (p.Lys131Gln) c.158-21A>C (n.158-21A>C) c.640A>C (p.Lys214Gln) | |
| 3 | g.133756911A>G | CA354604845 | TF | c.772A>G (p.Lys258Glu) c.391A>G (p.Lys131Glu) c.158-21A>G (n.158-21A>G) c.640A>G (p.Lys214Glu) | |
| 3 | g.133756911A>T | CA354604846 | TF | c.772A>T (p.Lys258Ter) c.391A>T (p.Lys131Ter) c.158-21A>T (n.158-21A>T) c.640A>T (p.Lys214Ter) | |
| 3 | g.133756912A>C | CA354604847 | TF | c.773A>C (p.Lys258Thr) c.392A>C (p.Lys131Thr) c.158-20A>C (n.158-20A>C) c.641A>C (p.Lys214Thr) | |
| 3 | g.133756912A>G | CA354604848 | TF | c.773A>G (p.Lys258Arg) c.392A>G (p.Lys131Arg) c.158-20A>G (n.158-20A>G) c.641A>G (p.Lys214Arg) | |
| 3 | g.133756912A>T | CA354604849 | TF | c.773A>T (p.Lys258Met) c.392A>T (p.Lys131Met) c.158-20A>T (n.158-20A>T) c.641A>T (p.Lys214Met) | |
| 3 | g.133756913G>A | CA435806449 | TF | c.774G>A (p.Lys258=) c.393G>A (p.Lys131=) c.158-19G>A (n.158-19G>A) c.642G>A (p.Lys214=) | dbSNP COSMIC |
| 3 | g.133756913G>C | CA354604850 | TF | c.774G>C (p.Lys258Asn) c.393G>C (p.Lys131Asn) c.158-19G>C (n.158-19G>C) c.642G>C (p.Lys214Asn) | |
| 3 | g.133756913G= | CA1403107292 | TF | c.774G= (p.Lys258=) c.393G= (p.Lys131=) c.158-19G= (n.158-19G=) c.642G= (p.Lys214=) | |
| 3 | g.133756913G>T | CA354604851 | TF | c.774G>T (p.Lys258Asn) c.393G>T (p.Lys131Asn) c.158-19G>T (n.158-19G>T) c.642G>T (p.Lys214Asn) | |
| 3 | g.133756914G>A | CA354604853 | TF | c.775G>A (p.Asp259Asn) c.394G>A (p.Asp132Asn) c.158-18G>A (n.158-18G>A) c.643G>A (p.Asp215Asn) | gnomAD v4 |
| 3 | g.133756914G>C | CA354604854 | TF | c.775G>C (p.Asp259His) c.394G>C (p.Asp132His) c.158-18G>C (n.158-18G>C) c.643G>C (p.Asp215His) | |
| 3 | g.133756914G= | CA1403107294 | TF | c.775G= (p.Asp259=) c.394G= (p.Asp132=) c.158-18G= (n.158-18G=) c.643G= (p.Asp215=) | |
| 3 | g.133756914G>T | CA354604852 | TF | c.775G>T (p.Asp259Tyr) c.394G>T (p.Asp132Tyr) c.158-18G>T (n.158-18G>T) c.643G>T (p.Asp215Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756915A>C | CA354604855 | TF | c.776A>C (p.Asp259Ala) c.395A>C (p.Asp132Ala) c.158-17A>C (n.158-17A>C) c.644A>C (p.Asp215Ala) | |
| 3 | g.133756915A>G | CA354604856 | TF | c.776A>G (p.Asp259Gly) c.395A>G (p.Asp132Gly) c.158-17A>G (n.158-17A>G) c.644A>G (p.Asp215Gly) | gnomAD v4 |
| 3 | g.133756915A>T | CA354604857 | TF | c.776A>T (p.Asp259Val) c.395A>T (p.Asp132Val) c.158-17A>T (n.158-17A>T) c.644A>T (p.Asp215Val) | |
| 3 | g.133756916C>A | CA354604858 | TF | c.777C>A (p.Asp259Glu) c.396C>A (p.Asp132Glu) c.158-16C>A (n.158-16C>A) c.645C>A (p.Asp215Glu) | |
| 3 | g.133756916C= | CA1403107296 | TF | c.777C= (p.Asp259=) c.396C= (p.Asp132=) c.158-16C= (n.158-16C=) c.645C= (p.Asp215=) | |
| 3 | g.133756916C>G | CA354604859 | TF | c.777C>G (p.Asp259Glu) c.396C>G (p.Asp132Glu) c.158-16C>G (n.158-16C>G) c.645C>G (p.Asp215Glu) | |
| 3 | g.133756916C>T | CA83674548 | TF | c.777C>T (p.Asp259=) c.396C>T (p.Asp132=) c.158-16C>T (n.158-16C>T) c.645C>T (p.Asp215=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756917T>A | CA354604860 | TF | c.778T>A (p.Cys260Ser) c.397T>A (p.Cys133Ser) c.158-15T>A (n.158-15T>A) c.646T>A (p.Cys216Ser) | |
| 3 | g.133756917T>C | CA354604861 | TF | c.778T>C (p.Cys260Arg) c.397T>C (p.Cys133Arg) c.158-15T>C (n.158-15T>C) c.646T>C (p.Cys216Arg) | |
| 3 | g.133756917T>G | CA354604862 | TF | c.778T>G (p.Cys260Gly) c.397T>G (p.Cys133Gly) c.158-15T>G (n.158-15T>G) c.646T>G (p.Cys216Gly) | |
| 3 | g.133756918G>A | CA83674550 | TF | c.779G>A (p.Cys260Tyr) c.398G>A (p.Cys133Tyr) c.158-14G>A (n.158-14G>A) c.647G>A (p.Cys216Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756918G>C | CA354604863 | TF | c.779G>C (p.Cys260Ser) c.398G>C (p.Cys133Ser) c.158-14G>C (n.158-14G>C) c.647G>C (p.Cys216Ser) | |
| 3 | g.133756918G= | CA1403107298 | TF | c.779G= (p.Cys260=) c.398G= (p.Cys133=) c.158-14G= (n.158-14G=) c.647G= (p.Cys216=) | |
| 3 | g.133756918G>T | CA354604864 | TF | c.779G>T (p.Cys260Phe) c.398G>T (p.Cys133Phe) c.158-14G>T (n.158-14G>T) c.647G>T (p.Cys216Phe) | |
| 3 | g.133756919C>A | CA354604866 | TF | c.780C>A (p.Cys260Ter) c.399C>A (p.Cys133Ter) c.158-13C>A (n.158-13C>A) c.648C>A (p.Cys216Ter) | |
| 3 | g.133756919C>G | CA354604865 | TF | c.780C>G (p.Cys260Trp) c.399C>G (p.Cys133Trp) c.158-13C>G (n.158-13C>G) c.648C>G (p.Cys216Trp) | |
| 3 | g.133756919C>T | CA435806473 | TF | c.780C>T (p.Cys260=) c.399C>T (p.Cys133=) c.158-13C>T (n.158-13C>T) c.648C>T (p.Cys216=) | |
| 3 | g.133756920C>A | CA354604867 | TF | c.781C>A (p.His261Asn) c.400C>A (p.His134Asn) c.158-12C>A (n.158-12C>A) c.649C>A (p.His217Asn) | |
| 3 | g.133756920C>G | CA354604868 | TF | c.781C>G (p.His261Asp) c.400C>G (p.His134Asp) c.158-12C>G (n.158-12C>G) c.649C>G (p.His217Asp) | |
| 3 | g.133756920C>T | CA354604869 | TF | c.781C>T (p.His261Tyr) c.400C>T (p.His134Tyr) c.158-12C>T (n.158-12C>T) c.649C>T (p.His217Tyr) | |
| 3 | g.133756921A= | CA1403107303 | TF | c.782A= (p.His261=) c.401A= (p.His134=) c.158-11A= (n.158-11A=) c.650A= (p.His217=) | |
| 3 | g.133756921A>C | CA354604870 | TF | c.782A>C (p.His261Pro) c.401A>C (p.His134Pro) c.158-11A>C (n.158-11A>C) c.650A>C (p.His217Pro) | dbSNP gnomAD v2 |
| 3 | g.133756921A>G | CA354604871 | TF | c.782A>G (p.His261Arg) c.401A>G (p.His134Arg) c.158-11A>G (n.158-11A>G) c.650A>G (p.His217Arg) | gnomAD v4 |
| 3 | g.133756921A>T | CA354604872 | TF | c.782A>T (p.His261Leu) c.401A>T (p.His134Leu) c.158-11A>T (n.158-11A>T) c.650A>T (p.His217Leu) | |
| 3 | g.133756922C>A | CA354604873 | TF | c.783C>A (p.His261Gln) c.402C>A (p.His134Gln) c.158-10C>A (n.158-10C>A) c.651C>A (p.His217Gln) | gnomAD v4 |
| 3 | g.133756922C= | CA1403107307 | TF | c.783C= (p.His261=) c.402C= (p.His134=) c.158-10C= (n.158-10C=) c.651C= (p.His217=) | |
| 3 | g.133756922C>G | CA354604874 | TF | c.783C>G (p.His261Gln) c.402C>G (p.His134Gln) c.158-10C>G (n.158-10C>G) c.651C>G (p.His217Gln) | |
| 3 | g.133756922C>T | CA435806484 | TF | c.783C>T (p.His261=) c.402C>T (p.His134=) c.158-10C>T (n.158-10C>T) c.651C>T (p.His217=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133756923T>A | CA354604875 | TF | c.784T>A (p.Leu262Met) c.403T>A c.158-9T>A (n.158-9T>A) c.652T>A (p.Leu218Met) c.403T>A (p.Leu135Met) | |
| 3 | g.133756923T>C | CA83674553 | TF | c.784T>C (p.Leu262=) c.403T>C c.158-9T>C (n.158-9T>C) c.652T>C (p.Leu218=) c.403T>C (p.Leu135=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756923T>G | CA354604876 | TF | c.784T>G (p.Leu262Val) c.403T>G c.158-9T>G (n.158-9T>G) c.652T>G (p.Leu218Val) c.403T>G (p.Leu135Val) | |
| 3 | g.133756923T= | CA1403107313 | TF | c.784T= (p.Leu262=) c.403T= c.158-9T= (n.158-9T=) c.652T= (p.Leu218=) c.403T= (p.Leu135=) | |
| 3 | g.133756924T>A | CA354604877 | TF | c.785T>A (p.Leu262Ter) c.158-8T>A (n.158-8T>A) c.653T>A (p.Leu218Ter) c.404T>A (p.Leu135Ter) | |
| 3 | g.133756924T>C | CA354604878 | TF | c.785T>C (p.Leu262Ser) c.158-8T>C (n.158-8T>C) c.653T>C (p.Leu218Ser) c.404T>C (p.Leu135Ser) | |
| 3 | g.133756924T>G | CA2625094 | TF | c.785T>G (p.Leu262Trp) c.158-8T>G (n.158-8T>G) c.653T>G (p.Leu218Trp) c.404T>G (p.Leu135Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756924T= | CA1403107316 | TF | c.785T= (p.Leu262=) c.158-8T= (n.158-8T=) c.653T= (p.Leu218=) c.404T= (p.Leu135=) | |
| 3 | g.133756925G>A | CA435806494 | TF | c.786G>A (p.Leu262=) c.158-7G>A (n.158-7G>A) c.654G>A (p.Leu218=) c.405G>A (p.Leu135=) | |
| 3 | g.133756925G>C | CA354604879 | TF | c.786G>C (p.Leu262Phe) c.158-7G>C (n.158-7G>C) c.654G>C (p.Leu218Phe) c.405G>C (p.Leu135Phe) | |
| 3 | g.133756925G>T | CA354604880 | TF | c.786G>T (p.Leu262Phe) c.158-7G>T (n.158-7G>T) c.654G>T (p.Leu218Phe) c.405G>T (p.Leu135Phe) | COSMIC |
| 3 | g.133756926G>A | CA354604881 | TF | c.787G>A (p.Ala263Thr) c.158-6G>A (n.158-6G>A) c.655G>A (p.Ala219Thr) c.406G>A (p.Ala136Thr) | gnomAD v4 |
| 3 | g.133756926G>C | CA354604883 | TF | c.787G>C (p.Ala263Pro) c.158-6G>C (n.158-6G>C) c.655G>C (p.Ala219Pro) c.406G>C (p.Ala136Pro) | |
| 3 | g.133756926G>T | CA354604882 | TF | c.787G>T (p.Ala263Ser) c.158-6G>T (n.158-6G>T) c.655G>T (p.Ala219Ser) c.406G>T (p.Ala136Ser) | COSMIC |
| 3 | g.133756927C>A | CA354604884 | TF | c.788C>A (p.Ala263Asp) c.158-5C>A (n.158-5C>A) c.656C>A (p.Ala219Asp) c.407C>A (p.Ala136Asp) | |
| 3 | g.133756927C>G | CA354604886 | TF | c.788C>G (p.Ala263Gly) c.158-5C>G (n.158-5C>G) c.656C>G (p.Ala219Gly) c.407C>G (p.Ala136Gly) | |
| 3 | g.133756927C>T | CA354604885 | TF | c.788C>T (p.Ala263Val) c.158-5C>T (n.158-5C>T) c.656C>T (p.Ala219Val) c.407C>T (p.Ala136Val) | gnomAD v4 |
| 3 | g.133756928C>A | CA435806505 | TF | c.789C>A (p.Ala263=) c.158-4C>A (n.158-4C>A) c.657C>A (p.Ala219=) c.408C>A (p.Ala136=) | |
| 3 | g.133756928C>G | CA435806506 | TF | c.789C>G (p.Ala263=) c.158-4C>G (n.158-4C>G) c.657C>G (p.Ala219=) c.408C>G (p.Ala136=) | |
| 3 | g.133756928C>T | CA435806508 | TF | c.789C>T (p.Ala263=) c.158-4C>T (n.158-4C>T) c.657C>T (p.Ala219=) c.408C>T (p.Ala136=) | gnomAD v4 |
| 3 | g.133756929C>A | CA354604887 | TF | c.790C>A (p.Gln264Lys) c.158-3C>A (n.158-3C>A) c.658C>A (p.Gln220Lys) c.409C>A (p.Gln137Lys) | |
| 3 | g.133756929C= | CA1403107321 | TF | c.790C= (p.Gln264=) c.158-3C= (n.158-3C=) c.658C= (p.Gln220=) c.409C= (p.Gln137=) | |
| 3 | g.133756929C>G | CA2625095 | TF | c.790C>G (p.Gln264Glu) c.158-3C>G (n.158-3C>G) c.658C>G (p.Gln220Glu) c.409C>G (p.Gln137Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756929C>T | CA354604888 | TF | c.790C>T (p.Gln264Ter) c.158-3C>T (n.158-3C>T) c.658C>T (p.Gln220Ter) c.409C>T (p.Gln137Ter) | |
| 3 | g.133756930A= | CA1403107322 | TF | c.791A= (p.Gln264=) c.158-2A= (n.158-2A=) c.659A= (p.Gln220=) c.410A= (p.Gln137=) | |
| 3 | g.133756930A>C | CA354604889 | TF | c.791A>C (p.Gln264Pro) c.158-2A>C (n.158-2A>C) c.659A>C (p.Gln220Pro) c.410A>C (p.Gln137Pro) | |
| 3 | g.133756930A>G | CA83674560 | TF | c.791A>G (p.Gln264Arg) c.158-2A>G (n.158-2A>G) c.659A>G (p.Gln220Arg) c.410A>G (p.Gln137Arg) | dbSNP gnomAD v4 |
| 3 | g.133756930A>T | CA354604890 | TF | c.791A>T (p.Gln264Leu) c.158-2A>T (n.158-2A>T) c.659A>T (p.Gln220Leu) c.410A>T (p.Gln137Leu) | |
| 3 | g.133756931G>A | CA435806518 | TF | c.792G>A (p.Gln264=) c.158-1G>A (n.158-1G>A) c.660G>A (p.Gln220=) c.411G>A (p.Gln137=) | |
| 3 | g.133756931G>C | CA354604891 | TF | c.792G>C (p.Gln264His) c.158-1G>C (n.158-1G>C) c.660G>C (p.Gln220His) c.411G>C (p.Gln137His) | |
| 3 | g.133756931G>T | CA354604892 | TF | c.792G>T (p.Gln264His) c.158-1G>T (n.158-1G>T) c.660G>T (p.Gln220His) c.411G>T (p.Gln137His) | |
| 3 | g.133756932G>A | CA354604893 | TF | c.793G>A (p.Val265Ile) c.158G>A (p.Gly53Asp) c.661G>A (p.Val221Ile) c.412G>A (p.Val138Ile) | |
| 3 | g.133756932G>C | CA354604894 | TF | c.793G>C (p.Val265Leu) c.158G>C (p.Gly53Ala) c.661G>C (p.Val221Leu) c.412G>C (p.Val138Leu) | |
| 3 | g.133756932G>T | CA354604895 | TF | c.793G>T (p.Val265Phe) c.158G>T (p.Gly53Val) c.661G>T (p.Val221Phe) c.412G>T (p.Val138Phe) | |
| 3 | g.133756933T>A | CA354604896 | TF | c.794T>A (p.Val265Asp) c.159T>A (p.Gly53=) c.662T>A (p.Val221Asp) c.413T>A (p.Val138Asp) | |
| 3 | g.133756933T>C | CA354604898 | TF | c.794T>C (p.Val265Ala) c.159T>C (p.Gly53=) c.662T>C (p.Val221Ala) c.413T>C (p.Val138Ala) | |
| 3 | g.133756933T>G | CA354604897 | TF | c.794T>G (p.Val265Gly) c.159T>G (p.Gly53=) c.662T>G (p.Val221Gly) c.413T>G (p.Val138Gly) | |
| 3 | g.133756934C>A | CA435806527 | TF | c.795C>A (p.Val265=) c.160C>A (p.Pro54Thr) c.663C>A (p.Val221=) c.414C>A (p.Val138=) | |
| 3 | g.133756934C>G | CA435806529 | TF | c.795C>G (p.Val265=) c.160C>G (p.Pro54Ala) c.663C>G (p.Val221=) c.414C>G (p.Val138=) | |
| 3 | g.133756934C>T | CA435806530 | TF | c.795C>T (p.Val265=) c.160C>T (p.Pro54Ser) c.663C>T (p.Val221=) c.414C>T (p.Val138=) | COSMIC |
| 3 | g.133756935C>A | CA354604899 | TF | c.796C>A (p.Pro266Thr) c.161C>A (p.Pro54His) c.664C>A (p.Pro222Thr) c.415C>A (p.Pro139Thr) | |
| 3 | g.133756935C>G | CA354604900 | TF | c.796C>G (p.Pro266Ala) c.161C>G (p.Pro54Arg) c.664C>G (p.Pro222Ala) c.415C>G (p.Pro139Ala) | |
| 3 | g.133756935C>T | CA354604901 | TF | c.796C>T (p.Pro266Ser) c.161C>T (p.Pro54Leu) c.664C>T (p.Pro222Ser) c.415C>T (p.Pro139Ser) | COSMIC |
| 3 | g.133756936C>A | CA354604902 | TF | c.797C>A (p.Pro266His) c.162C>A (p.Pro54=) c.665C>A (p.Pro222His) c.416C>A (p.Pro139His) | |
| 3 | g.133756936C= | CA1403107326 | TF | c.797C= (p.Pro266=) c.162C= (p.Pro54=) c.665C= (p.Pro222=) c.416C= (p.Pro139=) | |
| 3 | g.133756936C>G | CA354604903 | TF | c.797C>G (p.Pro266Arg) c.162C>G (p.Pro54=) c.665C>G (p.Pro222Arg) c.416C>G (p.Pro139Arg) | gnomAD v4 |
| 3 | g.133756936C>T | CA2625096 | TF | c.797C>T (p.Pro266Leu) c.162C>T (p.Pro54=) c.665C>T (p.Pro222Leu) c.416C>T (p.Pro139Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756937T>A | CA435806538 | TF | c.798T>A (p.Pro266=) c.163T>A (p.Phe55Ile) c.666T>A (p.Pro222=) c.417T>A (p.Pro139=) | |
| 3 | g.133756937T>C | CA435806543 | TF | c.798T>C (p.Pro266=) c.163T>C (p.Phe55Leu) c.666T>C (p.Pro222=) c.417T>C (p.Pro139=) | |
| 3 | g.133756937T>G | CA435806541 | TF | c.798T>G (p.Pro266=) c.163T>G (p.Phe55Val) c.666T>G (p.Pro222=) c.417T>G (p.Pro139=) | |
| 3 | g.133756938T>A | CA354604904 | TF | c.799T>A (p.Ser267Thr) c.164T>A (p.Phe55Tyr) c.667T>A (p.Ser223Thr) c.418T>A (p.Ser140Thr) | |
| 3 | g.133756938T>C | CA354604905 | TF | c.799T>C (p.Ser267Pro) c.164T>C (p.Phe55Ser) c.667T>C (p.Ser223Pro) c.418T>C (p.Ser140Pro) | |
| 3 | g.133756938T>G | CA354604906 | TF | c.799T>G (p.Ser267Ala) c.164T>G (p.Phe55Cys) c.667T>G (p.Ser223Ala) c.418T>G (p.Ser140Ala) | |
| 3 | g.133756939C>A | CA354604908 | TF | c.800C>A (p.Ser267Tyr) c.165C>A (p.Phe55Leu) c.668C>A (p.Ser223Tyr) c.419C>A (p.Ser140Tyr) | |
| 3 | g.133756939C>G | CA354604909 | TF | c.800C>G (p.Ser267Cys) c.165C>G (p.Phe55Leu) c.668C>G (p.Ser223Cys) c.419C>G (p.Ser140Cys) | |
| 3 | g.133756939C>T | CA354604907 | TF | c.800C>T (p.Ser267Phe) c.165C>T (p.Phe55=) c.668C>T (p.Ser223Phe) c.419C>T (p.Ser140Phe) | |
| 3 | g.133756940T>A | CA435806550 | TF | c.801T>A (p.Ser267=) c.166T>A (p.Ser56Thr) c.669T>A (p.Ser223=) c.420T>A (p.Ser140=) | |
| 3 | g.133756940T>C | CA435806552 | TF | c.801T>C (p.Ser267=) c.166T>C (p.Ser56Pro) c.669T>C (p.Ser223=) c.420T>C (p.Ser140=) | |
| 3 | g.133756940T>G | CA2625097 | TF | c.801T>G (p.Ser267=) c.166T>G (p.Ser56Ala) c.669T>G (p.Ser223=) c.420T>G (p.Ser140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756940T= | CA1403107331 | TF | c.801T= (p.Ser267=) c.166T= (p.Ser56=) c.669T= (p.Ser223=) c.420T= (p.Ser140=) | |
| 3 | g.133756941C>A | CA354604910 | TF | c.802C>A (p.His268Asn) c.167C>A (p.Ser56Ter) c.670C>A (p.His224Asn) c.421C>A (p.His141Asn) | |
| 3 | g.133756941C>G | CA354604911 | TF | c.802C>G (p.His268Asp) c.167C>G (p.Ser56Ter) c.670C>G (p.His224Asp) c.421C>G (p.His141Asp) | |
| 3 | g.133756941C>T | CA354604912 | TF | c.802C>T (p.His268Tyr) c.167C>T (p.Ser56Leu) c.670C>T (p.His224Tyr) c.421C>T (p.His141Tyr) | |
| 3 | g.133756942A>C | CA354604915 | TF | c.803A>C (p.His268Pro) c.168A>C (p.Ser56=) c.671A>C (p.His224Pro) c.422A>C (p.His141Pro) | gnomAD v4 |
| 3 | g.133756942A>G | CA354604914 | TF | c.803A>G (p.His268Arg) c.168A>G (p.Ser56=) c.671A>G (p.His224Arg) c.422A>G (p.His141Arg) | gnomAD v4 |
| 3 | g.133756942A>T | CA354604913 | TF | c.803A>T (p.His268Leu) c.168A>T (p.Ser56=) c.671A>T (p.His224Leu) c.422A>T (p.His141Leu) | |
| 3 | g.133756943T>A | CA354604916 | TF | c.804T>A (p.His268Gln) c.169T>A (p.Tyr57Asn) c.672T>A (p.His224Gln) c.423T>A (p.His141Gln) | gnomAD v4 |
| 3 | g.133756943T>C | CA2625098 | TF | c.804T>C (p.His268=) c.169T>C (p.Tyr57His) c.672T>C (p.His224=) c.423T>C (p.His141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756943T>G | CA354604917 | TF | c.804T>G (p.His268Gln) c.169T>G (p.Tyr57Asp) c.672T>G (p.His224Gln) c.423T>G (p.His141Gln) | |
| 3 | g.133756943T= | CA1403107342 | TF | c.804T= (p.His268=) c.169T= (p.Tyr57=) c.672T= (p.His224=) c.423T= (p.His141=) | |
| 3 | g.133756944A>C | CA354604918 | TF | c.805A>C (p.Thr269Pro) c.170A>C (p.Tyr57Ser) c.673A>C (p.Thr225Pro) c.424A>C (p.Thr142Pro) | gnomAD v4 |
| 3 | g.133756944A>G | CA354604919 | TF | c.805A>G (p.Thr269Ala) c.170A>G (p.Tyr57Cys) c.673A>G (p.Thr225Ala) c.424A>G (p.Thr142Ala) | |
| 3 | g.133756944A>T | CA354604920 | TF | c.805A>T (p.Thr269Ser) c.170A>T (p.Tyr57Phe) c.673A>T (p.Thr225Ser) c.424A>T (p.Thr142Ser) | |
| 3 | g.133756945C>A | CA354604921 | TF | c.806C>A (p.Thr269Asn) c.171C>A (p.Tyr57Ter) c.674C>A (p.Thr225Asn) c.425C>A (p.Thr142Asn) | |
| 3 | g.133756945C= | CA1403107348 | TF | c.806C= (p.Thr269=) c.171C= (p.Tyr57=) c.674C= (p.Thr225=) c.425C= (p.Thr142=) | |
| 3 | g.133756945C>G | CA354604922 | TF | c.806C>G (p.Thr269Ser) c.171C>G (p.Tyr57Ter) c.674C>G (p.Thr225Ser) c.425C>G (p.Thr142Ser) | |
| 3 | g.133756945C>T | CA2625099 | TF | c.806C>T (p.Thr269Ile) c.171C>T (p.Tyr57=) c.674C>T (p.Thr225Ile) c.425C>T (p.Thr142Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.133756946C>A | CA435806574 | TF | c.807C>A (p.Thr269=) c.172C>A (p.Arg58Ser) c.675C>A (p.Thr225=) c.426C>A (p.Thr142=) | |
| 3 | g.133756946C= | CA1403107356 | TF | c.807C= (p.Thr269=) c.172C= (p.Arg58=) c.675C= (p.Thr225=) c.426C= (p.Thr142=) | |
| 3 | g.133756946C>G | CA435806576 | TF | c.807C>G (p.Thr269=) c.172C>G (p.Arg58Gly) c.675C>G (p.Thr225=) c.426C>G (p.Thr142=) | gnomAD v4 |
| 3 | g.133756946C>T | CA2625100 | TF | c.807C>T (p.Thr269=) c.172C>T (p.Arg58Cys) c.675C>T (p.Thr225=) c.426C>T (p.Thr142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756947G>A | CA2625101 | TF | c.808G>A (p.Val270Ile) c.173G>A (p.Arg58His) c.676G>A (p.Val226Ile) c.427G>A (p.Val143Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756947G>C | CA354604923 | TF | c.808G>C (p.Val270Leu) c.173G>C (p.Arg58Pro) c.676G>C (p.Val226Leu) c.427G>C (p.Val143Leu) | |
| 3 | g.133756947G= | CA1403107357 | TF | c.808G= (p.Val270=) c.173G= (p.Arg58=) c.676G= (p.Val226=) c.427G= (p.Val143=) | |
| 3 | g.133756947G>T | CA354604924 | TF | c.808G>T (p.Val270Phe) c.173G>T (p.Arg58Leu) c.676G>T (p.Val226Phe) c.427G>T (p.Val143Phe) | |
| 3 | g.133756948T>A | CA2625102 | TF | c.809T>A (p.Val270Asp) c.174T>A (p.Arg58=) c.677T>A (p.Val226Asp) c.428T>A (p.Val143Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756948T>C | CA354604925 | TF | c.809T>C (p.Val270Ala) c.174T>C (p.Arg58=) c.677T>C (p.Val226Ala) c.428T>C (p.Val143Ala) | |
| 3 | g.133756948T>G | CA354604926 | TF | c.809T>G (p.Val270Gly) c.174T>G (p.Arg58=) c.677T>G (p.Val226Gly) c.428T>G (p.Val143Gly) | |
| 3 | g.133756948T= | CA1403107362 | TF | c.809T= (p.Val270=) c.174T= (p.Arg58=) c.677T= (p.Val226=) c.428T= (p.Val143=) | |
| 3 | g.133756949C>A | CA435806586 | TF | c.810C>A (p.Val270=) c.175C>A (p.Arg59Ser) c.678C>A (p.Val226=) c.429C>A (p.Val143=) | |
| 3 | g.133756949C= | CA1403107367 | TF | c.810C= (p.Val270=) c.175C= (p.Arg59=) c.678C= (p.Val226=) c.429C= (p.Val143=) | |
| 3 | g.133756949C>G | CA435806590 | TF | c.810C>G (p.Val270=) c.175C>G (p.Arg59Gly) c.678C>G (p.Val226=) c.429C>G (p.Val143=) | |
| 3 | g.133756949C>T | CA2625103 | TF | c.810C>T (p.Val270=) c.175C>T (p.Arg59Cys) c.678C>T (p.Val226=) c.429C>T (p.Val143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756950G>A | CA2625104 | TF | c.811G>A (p.Val271Met) c.176G>A (p.Arg59His) c.679G>A (p.Val227Met) c.430G>A (p.Val144Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133756950G>C | CA354604927 | TF | c.811G>C (p.Val271Leu) c.176G>C (p.Arg59Pro) c.679G>C (p.Val227Leu) c.430G>C (p.Val144Leu) | |
| 3 | g.133756950G= | CA1403107373 | TF | c.811G= (p.Val271=) c.176G= (p.Arg59=) c.679G= (p.Val227=) c.430G= (p.Val144=) | |
| 3 | g.133756950G>T | CA354604928 | TF | c.811G>T (p.Val271Leu) c.176G>T (p.Arg59Leu) c.679G>T (p.Val227Leu) c.430G>T (p.Val144Leu) | |
| 3 | g.133756951T>A | CA354604930 | TF | c.812T>A (p.Val271Glu) c.177T>A (p.Arg59=) c.680T>A (p.Val227Glu) c.431T>A (p.Val144Glu) | |
| 3 | g.133756951T>C | CA2625105 | TF | c.812T>C (p.Val271Ala) c.177T>C (p.Arg59=) c.680T>C (p.Val227Ala) c.431T>C (p.Val144Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756951T>G | CA354604929 | TF | c.812T>G (p.Val271Gly) c.177T>G (p.Arg59=) c.680T>G (p.Val227Gly) c.431T>G (p.Val144Gly) | |
| 3 | g.133756951T= | CA1403107376 | TF | c.812T= (p.Val271=) c.177T= (p.Arg59=) c.680T= (p.Val227=) c.431T= (p.Val144=) | |
| 3 | g.133756952G>A | CA2625106 | TF | c.813G>A (p.Val271=) c.178G>A (p.Gly60Ser) c.681G>A (p.Val227=) c.432G>A (p.Val144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756952G>C | CA435806601 | TF | c.813G>C (p.Val271=) c.178G>C (p.Gly60Arg) c.681G>C (p.Val227=) c.432G>C (p.Val144=) | |
| 3 | g.133756952G= | CA1403107378 | TF | c.813G= (p.Val271=) c.178G= (p.Gly60=) c.681G= (p.Val227=) c.432G= (p.Val144=) | |
| 3 | g.133756952G>T | CA435806599 | TF | c.813G>T (p.Val271=) c.178G>T (p.Gly60Cys) c.681G>T (p.Val227=) c.432G>T (p.Val144=) | |
| 3 | g.133756953G>A | CA354604931 | TF | c.814G>A (p.Ala272Thr) c.179G>A (p.Gly60Asp) c.682G>A (p.Ala228Thr) c.433G>A (p.Ala145Thr) | |
| 3 | g.133756953G>C | CA354604932 | TF | c.814G>C (p.Ala272Pro) c.179G>C (p.Gly60Ala) c.682G>C (p.Ala228Pro) c.433G>C (p.Ala145Pro) | |
| 3 | g.133756953G= | CA1403107381 | TF | c.814G= (p.Ala272=) c.179G= (p.Gly60=) c.682G= (p.Ala228=) c.433G= (p.Ala145=) | |
| 3 | g.133756953G>T | CA2625107 | TF | c.814G>T (p.Ala272Ser) c.179G>T (p.Gly60Val) c.682G>T (p.Ala228Ser) c.433G>T (p.Ala145Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133756954C>A | CA354604933 | TF | c.815C>A (p.Ala272Asp) c.180C>A (p.Gly60=) c.683C>A (p.Ala228Asp) c.434C>A (p.Ala145Asp) | |
| 3 | g.133756954C>G | CA354604934 | TF | c.815C>G (p.Ala272Gly) c.180C>G (p.Gly60=) c.683C>G (p.Ala228Gly) c.434C>G (p.Ala145Gly) | |
| 3 | g.133756954C>T | CA354604935 | TF | c.815C>T (p.Ala272Val) c.180C>T (p.Gly60=) c.683C>T (p.Ala228Val) c.434C>T (p.Ala145Val) | |
| 3 | g.133756955C>A | CA435806616 | TF | c.816C>A (p.Ala272=) c.181C>A (p.Pro61Thr) c.684C>A (p.Ala228=) c.435C>A (p.Ala145=) | |
| 3 | g.133756955C>G | CA435806619 | TF | c.816C>G (p.Ala272=) c.181C>G (p.Pro61Ala) c.684C>G (p.Ala228=) c.435C>G (p.Ala145=) | |
| 3 | g.133756955C>T | CA435806617 | TF | c.816C>T (p.Ala272=) c.181C>T (p.Pro61Ser) c.684C>T (p.Ala228=) c.435C>T (p.Ala145=) | |
| 3 | g.133756956C>A | CA435806622 | TF | c.817C>A (p.Arg273=) c.182C>A (p.Pro61Gln) c.685C>A (p.Arg229=) c.436C>A (p.Arg146=) | |
| 3 | g.133756956C= | CA1403107384 | TF | c.817C= (p.Arg273=) c.182C= (p.Pro61=) c.685C= (p.Arg229=) c.436C= (p.Arg146=) | |
| 3 | g.133756956C>G | CA354604936 | TF | c.817C>G (p.Arg273Gly) c.182C>G (p.Pro61Arg) c.685C>G (p.Arg229Gly) c.436C>G (p.Arg146Gly) | |
| 3 | g.133756956C>T | CA83674595 | TF | c.817C>T (p.Arg273Ter) c.182C>T (p.Pro61Leu) c.685C>T (p.Arg229Ter) c.436C>T (p.Arg146Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133756957G>A | CA2625108 | TF | c.818G>A (p.Arg273Gln) c.183G>A (p.Pro61=) c.686G>A (p.Arg229Gln) c.437G>A (p.Arg146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133756957G>C | CA354604937 | TF | c.818G>C (p.Arg273Pro) c.183G>C (p.Pro61=) c.686G>C (p.Arg229Pro) c.437G>C (p.Arg146Pro) | |
| 3 | g.133756957G= | CA1403107389 | TF | c.818G= (p.Arg273=) c.183G= (p.Pro61=) c.686G= (p.Arg229=) c.437G= (p.Arg146=) | |
| 3 | g.133756957G>T | CA354604938 | TF | c.818G>T (p.Arg273Leu) c.183G>T (p.Pro61=) c.686G>T (p.Arg229Leu) c.437G>T (p.Arg146Leu) | gnomAD v4 |
| 3 | g.133756958A>C | CA435806630 | TF | c.819A>C (p.Arg273=) c.184A>C (p.Lys62Gln) c.687A>C (p.Arg229=) c.438A>C (p.Arg146=) | ClinVar |
| 3 | g.133756958A>G | CA435806632 | TF | c.819A>G (p.Arg273=) c.184A>G (p.Lys62Glu) c.687A>G (p.Arg229=) c.438A>G (p.Arg146=) | |
| 3 | g.133756958A>T | CA435806634 | TF | c.819A>T (p.Arg273=) c.184A>T (p.Lys62Ter) c.687A>T (p.Arg229=) c.438A>T (p.Arg146=) | |
| 3 | g.133756959A= | CA1403107393 | TF | c.820A= (p.Ser274=) c.185A= (p.Lys62=) c.688A= (p.Ser230=) c.439A= (p.Ser147=) | |
| 3 | g.133756959A>C | CA354604939 | TF | c.820A>C (p.Ser274Arg) c.185A>C (p.Lys62Thr) c.688A>C (p.Ser230Arg) c.439A>C (p.Ser147Arg) | |
| 3 | g.133756959A>G | CA83674600 | TF | c.820A>G (p.Ser274Gly) c.185A>G (p.Lys62Arg) c.688A>G (p.Ser230Gly) c.439A>G (p.Ser147Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133756959A>T | CA354604940 | TF | c.820A>T (p.Ser274Cys) c.185A>T (p.Lys62Met) c.688A>T (p.Ser230Cys) c.439A>T (p.Ser147Cys) | dbSNP |
| 3 | g.133756960G>A | CA354604941 | TF | c.821G>A (p.Ser274Asn) c.186G>A (p.Lys62=) c.689G>A (p.Ser230Asn) c.440G>A (p.Ser147Asn) | |
| 3 | g.133756960G>C | CA354604943 | TF | c.821G>C (p.Ser274Thr) c.186G>C (p.Lys62Asn) c.689G>C (p.Ser230Thr) c.440G>C (p.Ser147Thr) | |
| 3 | g.133756960G>T | CA354604942 | TF | c.821G>T (p.Ser274Ile) c.186G>T (p.Lys62Asn) c.689G>T (p.Ser230Ile) c.440G>T (p.Ser147Ile) | |
| 3 | g.133756961T>A | CA354604944 | TF | c.822T>A (p.Ser274Arg) c.187T>A (p.Tyr63Asn) c.690T>A (p.Ser230Arg) c.441T>A (p.Ser147Arg) | |
| 3 | g.133756961T>C | CA435806644 | TF | c.822T>C (p.Ser274=) c.187T>C (p.Tyr63His) c.690T>C (p.Ser230=) c.441T>C (p.Ser147=) | |
| 3 | g.133756961T>G | CA354604945 | TF | c.822T>G (p.Ser274Arg) c.187T>G (p.Tyr63Asp) c.690T>G (p.Ser230Arg) c.441T>G (p.Ser147Arg) | |
| 3 | g.133756962A>C | CA354604946 | TF | c.823A>C (p.Met275Leu) c.188A>C (p.Tyr63Ser) c.691A>C (p.Met231Leu) c.442A>C (p.Met148Leu) | |
| 3 | g.133756962A>G | CA354604947 | TF | c.823A>G (p.Met275Val) c.188A>G (p.Tyr63Cys) c.691A>G (p.Met231Val) c.442A>G (p.Met148Val) | |
| 3 | g.133756962A>T | CA354604948 | TF | c.823A>T (p.Met275Leu) c.188A>T (p.Tyr63Phe) c.691A>T (p.Met231Leu) c.442A>T (p.Met148Leu) | |
| 3 | g.133756963T>A | CA354604949 | TF | c.824T>A (p.Met275Lys) c.189T>A (p.Tyr63Ter) c.692T>A (p.Met231Lys) c.443T>A (p.Met148Lys) | |
| 3 | g.133756963T>C | CA354604950 | TF | c.824T>C (p.Met275Thr) c.189T>C (p.Tyr63=) c.692T>C (p.Met231Thr) c.443T>C (p.Met148Thr) | |
| 3 | g.133756963T>G | CA354604951 | TF | c.824T>G (p.Met275Arg) c.189T>G (p.Tyr63Ter) c.692T>G (p.Met231Arg) c.443T>G (p.Met148Arg) | |
| 3 | g.133756964G>A | CA354604952 | TF | c.825G>A (p.Met275Ile) c.190G>A (p.Gly64Arg) c.693G>A (p.Met231Ile) c.444G>A (p.Met148Ile) | |
| 3 | g.133756964G>C | CA354604953 | TF | c.825G>C (p.Met275Ile) c.190G>C (p.Gly64Arg) c.693G>C (p.Met231Ile) c.444G>C (p.Met148Ile) | |
| 3 | g.133756964G>T | CA354604954 | TF | c.825G>T (p.Met275Ile) c.190G>T (p.Gly64Trp) c.693G>T (p.Met231Ile) c.444G>T (p.Met148Ile) | |
| 3 | g.133756965G>A | CA354604957 | TF | c.826G>A (p.Gly276Ser) c.191G>A (p.Gly64Glu) c.694G>A (p.Gly232Ser) c.445G>A (p.Gly149Ser) | |
| 3 | g.133756965G>C | CA354604956 | TF | c.826G>C (p.Gly276Arg) c.191G>C (p.Gly64Ala) c.694G>C (p.Gly232Arg) c.445G>C (p.Gly149Arg) | dbSNP gnomAD v4 |
| 3 | g.133756965G= | CA1403107399 | TF | c.826G= (p.Gly276=) c.191G= (p.Gly64=) c.694G= (p.Gly232=) c.445G= (p.Gly149=) | |
| 3 | g.133756965G>T | CA354604955 | TF | c.826G>T (p.Gly276Cys) c.191G>T (p.Gly64Val) c.694G>T (p.Gly232Cys) c.445G>T (p.Gly149Cys) | |
| 3 | g.133756966G>A | CA354604958 | TF | c.827G>A (p.Gly276Asp) c.192G>A (p.Gly64=) c.695G>A (p.Gly232Asp) c.446G>A (p.Gly149Asp) | gnomAD v4 |
| 3 | g.133756966G>C | CA354604959 | TF | c.827G>C (p.Gly276Ala) c.192G>C (p.Gly64=) c.695G>C (p.Gly232Ala) c.446G>C (p.Gly149Ala) | |
| 3 | g.133756966G>T | CA354604960 | TF | c.827G>T (p.Gly276Val) c.192G>T (p.Gly64=) c.695G>T (p.Gly232Val) c.446G>T (p.Gly149Val) | |
| 3 | g.133756967C>A | CA435806661 | TF | c.828C>A (p.Gly276=) c.193C>A (p.Arg65=) c.696C>A (p.Gly232=) c.447C>A (p.Gly149=) | ClinVar |
| 3 | g.133756967C= | CA1403107411 | TF | c.828C= (p.Gly276=) c.193C= (p.Arg65=) c.696C= (p.Gly232=) c.447C= (p.Gly149=) | |
| 3 | g.133756967C>G | CA435806663 | TF | c.828C>G (p.Gly276=) c.193C>G (p.Arg65Gly) c.696C>G (p.Gly232=) c.447C>G (p.Gly149=) | gnomAD v4 |
| 3 | g.133756967C>T | CA2625109 | TF | c.828C>T (p.Gly276=) c.193C>T (p.Arg65Trp) c.696C>T (p.Gly232=) c.447C>T (p.Gly149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756968G>A | CA122571 | TF | c.829G>A (p.Gly277Ser) c.194G>A (p.Arg65Gln) c.697G>A (p.Gly233Ser) c.448G>A (p.Gly150Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756968G>C | CA354604961 | TF | c.829G>C (p.Gly277Arg) c.194G>C (p.Arg65Pro) c.697G>C (p.Gly233Arg) c.448G>C (p.Gly150Arg) | |
| 3 | g.133756968G= | CA1403107416 | TF | c.829G= (p.Gly277=) c.194G= (p.Arg65=) c.697G= (p.Gly233=) c.448G= (p.Gly150=) | |
| 3 | g.133756968G>T | CA354604962 | TF | c.829G>T (p.Gly277Cys) c.194G>T (p.Arg65Leu) c.697G>T (p.Gly233Cys) c.448G>T (p.Gly150Cys) | |
| 3 | g.133756969G>A | CA122557 | TF | c.830G>A (p.Gly277Asp) c.195G>A (p.Arg65=) c.698G>A (p.Gly233Asp) c.449G>A (p.Gly150Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756969G>C | CA354604963 | TF | c.830G>C (p.Gly277Ala) c.195G>C (p.Arg65=) c.698G>C (p.Gly233Ala) c.449G>C (p.Gly150Ala) | |
| 3 | g.133756969G= | CA1403107419 | TF | c.830G= (p.Gly277=) c.195G= (p.Arg65=) c.698G= (p.Gly233=) c.449G= (p.Gly150=) | |
| 3 | g.133756969G>T | CA354604964 | TF | c.830G>T (p.Gly277Val) c.195G>T (p.Arg65=) c.698G>T (p.Gly233Val) c.449G>T (p.Gly150Val) | |
| 3 | g.133756970C>A | CA435806677 | TF | c.831C>A (p.Gly277=) c.196C>A (p.Gln66Lys) c.699C>A (p.Gly233=) c.450C>A (p.Gly150=) | |
| 3 | g.133756970C= | CA1403107424 | TF | c.831C= (p.Gly277=) c.196C= (p.Gln66=) c.699C= (p.Gly233=) c.450C= (p.Gly150=) | |
| 3 | g.133756970C>G | CA435806679 | TF | c.831C>G (p.Gly277=) c.196C>G (p.Gln66Glu) c.699C>G (p.Gly233=) c.450C>G (p.Gly150=) | |
| 3 | g.133756970C>T | CA435806678 | TF | c.831C>T (p.Gly277=) c.196C>T (p.Gln66Ter) c.699C>T (p.Gly233=) c.450C>T (p.Gly150=) | dbSNP |
| 3 | g.133756971A>C | CA354604965 | TF | c.832A>C (p.Lys278Gln) c.197A>C (p.Gln66Pro) c.700A>C (p.Lys234Gln) c.451A>C (p.Lys151Gln) | |
| 3 | g.133756971A>G | CA354604966 | TF | c.832A>G (p.Lys278Glu) c.197A>G (p.Gln66Arg) c.700A>G (p.Lys234Glu) c.451A>G (p.Lys151Glu) | |
| 3 | g.133756971A>T | CA354604967 | TF | c.832A>T (p.Lys278Ter) c.197A>T (p.Gln66Leu) c.700A>T (p.Lys234Ter) c.451A>T (p.Lys151Ter) | |
| 3 | g.133756972A>C | CA354604970 | TF | c.833A>C (p.Lys278Thr) c.198A>C (p.Gln66His) c.701A>C (p.Lys234Thr) c.452A>C (p.Lys151Thr) | |
| 3 | g.133756972A>G | CA354604968 | TF | c.833A>G (p.Lys278Arg) c.198A>G (p.Gln66=) c.701A>G (p.Lys234Arg) c.452A>G (p.Lys151Arg) | |
| 3 | g.133756972A>T | CA354604969 | TF | c.833A>T (p.Lys278Met) c.198A>T (p.Gln66His) c.701A>T (p.Lys234Met) c.452A>T (p.Lys151Met) | |
| 3 | g.133756973G>A | CA435806680 | TF | c.834G>A (p.Lys278=) c.199G>A (p.Gly67Arg) c.702G>A (p.Lys234=) c.453G>A (p.Lys151=) | |
| 3 | g.133756973G>C | CA354604971 | TF | c.834G>C (p.Lys278Asn) c.199G>C (p.Gly67Arg) c.702G>C (p.Lys234Asn) c.453G>C (p.Lys151Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756973G= | CA1403107432 | TF | c.834G= (p.Lys278=) c.199G= (p.Gly67=) c.702G= (p.Lys234=) c.453G= (p.Lys151=) | |
| 3 | g.133756973G>T | CA354604972 | TF | c.834G>T (p.Lys278Asn) c.199G>T (p.Gly67Ter) c.702G>T (p.Lys234Asn) c.453G>T (p.Lys151Asn) | |
| 3 | g.133756974G>A | CA354604973 | TF | c.835G>A (p.Glu279Lys) c.200G>A (p.Gly67Glu) c.703G>A (p.Glu235Lys) c.454G>A (p.Glu152Lys) | COSMIC |
| 3 | g.133756974G>C | CA354604974 | TF | c.835G>C (p.Glu279Gln) c.200G>C (p.Gly67Ala) c.703G>C (p.Glu235Gln) c.454G>C (p.Glu152Gln) | |
| 3 | g.133756974G>T | CA354604975 | TF | c.835G>T (p.Glu279Ter) c.200G>T (p.Gly67Val) c.703G>T (p.Glu235Ter) c.454G>T (p.Glu152Ter) | |
| 3 | g.133756975A>C | CA354604976 | TF | c.836A>C (p.Glu279Ala) c.201A>C (p.Gly67=) c.704A>C (p.Glu235Ala) c.455A>C (p.Glu152Ala) | |
| 3 | g.133756975A>G | CA354604977 | TF | c.836A>G (p.Glu279Gly) c.201A>G (p.Gly67=) c.704A>G (p.Glu235Gly) c.455A>G (p.Glu152Gly) | |
| 3 | g.133756975A>T | CA354604978 | TF | c.836A>T (p.Glu279Val) c.201A>T (p.Gly67=) c.704A>T (p.Glu235Val) c.455A>T (p.Glu152Val) | |
| 3 | g.133756976G>A | CA435806681 | TF | c.837G>A (p.Glu279=) c.202G>A (p.Gly68Arg) c.705G>A (p.Glu235=) c.456G>A (p.Glu152=) | |
| 3 | g.133756976G>C | CA354604979 | TF | c.837G>C (p.Glu279Asp) c.202G>C (p.Gly68Arg) c.705G>C (p.Glu235Asp) c.456G>C (p.Glu152Asp) | |
| 3 | g.133756976G>T | CA354604980 | TF | c.837G>T (p.Glu279Asp) c.202G>T (p.Gly68Ter) c.705G>T (p.Glu235Asp) c.456G>T (p.Glu152Asp) |