| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133777112A= | CA1403124845 | TF | c.1936A= (p.Lys646=) c.667A= n.2930A= c.1804A= (p.Lys602=) c.1555A= (p.Lys519=) | |
| 3 | g.133777112A>C | CA354611147 | TF | c.1936A>C (p.Lys646Gln) c.667A>C n.2930A>C c.1804A>C (p.Lys602Gln) c.1555A>C (p.Lys519Gln) | |
| 3 | g.133777112A>G | CA122565 | TF | c.1936A>G (p.Lys646Glu) c.667A>G n.2930A>G c.1804A>G (p.Lys602Glu) c.1555A>G (p.Lys519Glu) | ClinVar dbSNP |
| 3 | g.133777112A>T | CA354611151 | TF | c.1936A>T (p.Lys646Ter) c.667A>T n.2930A>T c.1804A>T (p.Lys602Ter) c.1555A>T (p.Lys519Ter) | |
| 3 | g.133777113A>C | CA354611155 | TF | c.1937A>C (p.Lys646Thr) c.668A>C n.2931A>C c.1805A>C (p.Lys602Thr) c.1556A>C (p.Lys519Thr) | |
| 3 | g.133777113A>G | CA354611157 | TF | c.1937A>G (p.Lys646Arg) c.668A>G n.2931A>G c.1805A>G (p.Lys602Arg) c.1556A>G (p.Lys519Arg) | |
| 3 | g.133777113A>T | CA354611159 | TF | c.1937A>T (p.Lys646Met) c.668A>T n.2931A>T c.1805A>T (p.Lys602Met) c.1556A>T (p.Lys519Met) | |
| 3 | g.133777114G>A | CA435815926 | TF | c.1938G>A (p.Lys646=) c.669G>A n.2932G>A c.1806G>A (p.Lys602=) c.1557G>A (p.Lys519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133777114G>C | CA354611162 | TF | c.1938G>C (p.Lys646Asn) c.669G>C n.2932G>C c.1806G>C (p.Lys602Asn) c.1557G>C (p.Lys519Asn) | |
| 3 | g.133777114G= | CA1403124853 | TF | c.1938G= (p.Lys646=) c.669G= n.2932G= c.1806G= (p.Lys602=) c.1557G= (p.Lys519=) | |
| 3 | g.133777114G>T | CA354611164 | TF | c.1938G>T (p.Lys646Asn) c.669G>T n.2932G>T c.1806G>T (p.Lys602Asn) c.1557G>T (p.Lys519Asn) | |
| 3 | g.133777115G>A | CA354611166 | TF | c.1939G>A (p.Asp647Asn) c.670G>A n.2933G>A c.1807G>A (p.Asp603Asn) c.1558G>A (p.Asp520Asn) | COSMIC |
| 3 | g.133777115G>C | CA354611168 | TF | c.1939G>C (p.Asp647His) c.670G>C n.2933G>C c.1807G>C (p.Asp603His) c.1558G>C (p.Asp520His) | |
| 3 | g.133777115G>T | CA354611170 | TF | c.1939G>T (p.Asp647Tyr) c.670G>T n.2933G>T c.1807G>T (p.Asp603Tyr) c.1558G>T (p.Asp520Tyr) | |
| 3 | g.133777116A>C | CA354611177 | TF | c.1940A>C (p.Asp647Ala) c.671A>C n.2934A>C c.1808A>C (p.Asp603Ala) c.1559A>C (p.Asp520Ala) | |
| 3 | g.133777116A>G | CA354611173 | TF | c.1940A>G (p.Asp647Gly) c.671A>G n.2934A>G c.1808A>G (p.Asp603Gly) c.1559A>G (p.Asp520Gly) | |
| 3 | g.133777116A>T | CA354611175 | TF | c.1940A>T (p.Asp647Val) c.671A>T n.2934A>T c.1808A>T (p.Asp603Val) c.1559A>T (p.Asp520Val) | gnomAD v4 |
| 3 | g.133777117C>A | CA354611180 | TF | c.1941C>A (p.Asp647Glu) c.672C>A n.2935C>A c.1809C>A (p.Asp603Glu) c.1560C>A (p.Asp520Glu) | dbSNP gnomAD v4 |
| 3 | g.133777117C= | CA1403124860 | TF | c.1941C= (p.Asp647=) c.672C= n.2935C= c.1809C= (p.Asp603=) c.1560C= (p.Asp520=) | |
| 3 | g.133777117C>G | CA354611182 | TF | c.1941C>G (p.Asp647Glu) c.672C>G n.2935C>G c.1809C>G (p.Asp603Glu) c.1560C>G (p.Asp520Glu) | |
| 3 | g.133777117C>T | CA2625463 | TF | c.1941C>T (p.Asp647=) c.672C>T n.2935C>T c.1809C>T (p.Asp603=) c.1560C>T (p.Asp520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133777118C>A | CA354611186 | TF | c.1942C>A (p.Leu648Ile) c.673C>A n.2936C>A c.1810C>A (p.Leu604Ile) c.1561C>A (p.Leu521Ile) | |
| 3 | g.133777118C= | CA1403124864 | TF | c.1942C= (p.Leu648=) c.673C= n.2936C= c.1810C= (p.Leu604=) c.1561C= (p.Leu521=) | |
| 3 | g.133777118C>G | CA354611188 | TF | c.1942C>G (p.Leu648Val) c.673C>G n.2936C>G c.1810C>G (p.Leu604Val) c.1561C>G (p.Leu521Val) | |
| 3 | g.133777118C>T | CA354611190 | TF | c.1942C>T (p.Leu648Phe) c.673C>T n.2936C>T c.1810C>T (p.Leu604Phe) c.1561C>T (p.Leu521Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133777119T>A | CA354611192 | TF | c.1943T>A (p.Leu648His) c.674T>A n.2937T>A c.1811T>A (p.Leu604His) c.1562T>A (p.Leu521His) | |
| 3 | g.133777119T>C | CA354611194 | TF | c.1943T>C (p.Leu648Pro) c.674T>C n.2937T>C c.1811T>C (p.Leu604Pro) c.1562T>C (p.Leu521Pro) | |
| 3 | g.133777119T>G | CA354611196 | TF | c.1943T>G (p.Leu648Arg) c.674T>G n.2937T>G c.1811T>G (p.Leu604Arg) c.1562T>G (p.Leu521Arg) | |
| 3 | g.133777120T>A | CA435815927 | TF | c.1944T>A (p.Leu648=) c.675T>A n.2938T>A c.1812T>A (p.Leu604=) c.1563T>A (p.Leu521=) | |
| 3 | g.133777120T>C | CA435815928 | TF | c.1944T>C (p.Leu648=) c.675T>C n.2938T>C c.1812T>C (p.Leu604=) c.1563T>C (p.Leu521=) | |
| 3 | g.133777120T>G | CA435815929 | TF | c.1944T>G (p.Leu648=) c.675T>G n.2938T>G c.1812T>G (p.Leu604=) c.1563T>G (p.Leu521=) | |
| 3 | g.133777121C>A | CA354611198 | TF | c.1945C>A (p.Leu649Met) c.676C>A n.2939C>A c.1813C>A (p.Leu605Met) c.1564C>A (p.Leu522Met) | |
| 3 | g.133777121C= | CA1403124873 | TF | c.1945C= (p.Leu649=) c.676C= n.2939C= c.1813C= (p.Leu605=) c.1564C= (p.Leu522=) | |
| 3 | g.133777121C>G | CA354611200 | TF | c.1945C>G (p.Leu649Val) c.676C>G n.2939C>G c.1813C>G (p.Leu605Val) c.1564C>G (p.Leu522Val) | gnomAD v4 |
| 3 | g.133777121C>T | CA435815930 | TF | c.1945C>T (p.Leu649=) c.676C>T n.2939C>T c.1813C>T (p.Leu605=) c.1564C>T (p.Leu522=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133777122T>A | CA354611207 | TF | c.1946T>A (p.Leu649Gln) c.677T>A n.2940T>A c.1814T>A (p.Leu605Gln) c.1565T>A (p.Leu522Gln) | |
| 3 | g.133777122T>C | CA354611205 | TF | c.1946T>C (p.Leu649Pro) c.677T>C n.2940T>C c.1814T>C (p.Leu605Pro) c.1565T>C (p.Leu522Pro) | |
| 3 | g.133777122T>G | CA354611203 | TF | c.1946T>G (p.Leu649Arg) c.677T>G n.2940T>G c.1814T>G (p.Leu605Arg) c.1565T>G (p.Leu522Arg) | |
| 3 | g.133777123G>A | CA435815931 | TF | c.1947G>A (p.Leu649=) c.678G>A n.2941G>A c.1815G>A (p.Leu605=) c.1566G>A (p.Leu522=) | gnomAD v4 |
| 3 | g.133777123G>C | CA435815932 | TF | c.1947G>C (p.Leu649=) c.678G>C n.2941G>C c.1815G>C (p.Leu605=) c.1566G>C (p.Leu522=) | |
| 3 | g.133777123G>T | CA435815933 | TF | c.1947G>T (p.Leu649=) c.678G>T n.2941G>T c.1815G>T (p.Leu605=) c.1566G>T (p.Leu522=) | |
| 3 | g.133777124T>A | CA354611209 | TF | c.1948T>A (p.Phe650Ile) c.679T>A n.2942T>A c.1816T>A (p.Phe606Ile) c.1567T>A (p.Phe523Ile) | |
| 3 | g.133777124T>C | CA354611213 | TF | c.1948T>C (p.Phe650Leu) c.679T>C n.2942T>C c.1816T>C (p.Phe606Leu) c.1567T>C (p.Phe523Leu) | |
| 3 | g.133777124T>G | CA354611211 | TF | c.1948T>G (p.Phe650Val) c.679T>G n.2942T>G c.1816T>G (p.Phe606Val) c.1567T>G (p.Phe523Val) | |
| 3 | g.133777125T>A | CA354611215 | TF | c.1949T>A (p.Phe650Tyr) c.680T>A n.2943T>A c.1817T>A (p.Phe606Tyr) c.1568T>A (p.Phe523Tyr) | |
| 3 | g.133777125T>C | CA354611220 | TF | c.1949T>C (p.Phe650Ser) c.680T>C n.2943T>C c.1817T>C (p.Phe606Ser) c.1568T>C (p.Phe523Ser) | |
| 3 | g.133777125T>G | CA354611217 | TF | c.1949T>G (p.Phe650Cys) c.680T>G n.2943T>G c.1817T>G (p.Phe606Cys) c.1568T>G (p.Phe523Cys) | |
| 3 | g.133777126C>A | CA354611223 | TF | c.1950C>A (p.Phe650Leu) c.681C>A n.2944C>A c.1818C>A (p.Phe606Leu) c.1569C>A (p.Phe523Leu) | |
| 3 | g.133777126C>G | CA354611225 | TF | c.1950C>G (p.Phe650Leu) c.681C>G n.2944C>G c.1818C>G (p.Phe606Leu) c.1569C>G (p.Phe523Leu) | |
| 3 | g.133777126C>T | CA435815934 | TF | c.1950C>T (p.Phe650=) c.681C>T n.2944C>T c.1818C>T (p.Phe606=) c.1569C>T (p.Phe523=) |