| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725906A= | CA1969071973 | F2 | c.607A= (p.Ser203=) c.577A= (p.Ser193=) n.387A= c.559A= (p.Ser187=) n.651A= n.642A= | |
| 11 | g.46725906A>C | CA380264755 | F2 | c.607A>C (p.Ser203Arg) c.577A>C (p.Ser193Arg) n.387A>C c.559A>C (p.Ser187Arg) n.651A>C n.642A>C | gnomAD v4 |
| 11 | g.46725906A>G | CA380264757 | F2 | c.607A>G (p.Ser203Gly) c.577A>G (p.Ser193Gly) n.387A>G c.559A>G (p.Ser187Gly) n.651A>G n.642A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.46725906A>T | CA380264758 | F2 | c.607A>T (p.Ser203Cys) c.577A>T (p.Ser193Cys) n.387A>T c.559A>T (p.Ser187Cys) n.651A>T n.642A>T | |
| 11 | g.46725907G>A | CA380264761 | F2 | c.608G>A (p.Ser203Asn) c.578G>A (p.Ser193Asn) n.388G>A c.560G>A (p.Ser187Asn) n.652G>A n.643G>A | dbSNP gnomAD v4 |
| 11 | g.46725907G>C | CA380264762 | F2 | c.608G>C (p.Ser203Thr) c.578G>C (p.Ser193Thr) n.388G>C c.560G>C (p.Ser187Thr) n.652G>C n.643G>C | |
| 11 | g.46725907G= | CA1969071976 | F2 | c.608G= (p.Ser203=) c.578G= (p.Ser193=) n.388G= c.560G= (p.Ser187=) n.652G= n.643G= | |
| 11 | g.46725907G>T | CA380264763 | F2 | c.608G>T (p.Ser203Ile) c.578G>T (p.Ser193Ile) n.388G>T c.560G>T (p.Ser187Ile) n.652G>T n.643G>T | |
| 11 | g.46725908T>A | CA380264765 | F2 | c.609T>A (p.Ser203Arg) c.579T>A (p.Ser193Arg) n.389T>A c.561T>A (p.Ser187Arg) n.653T>A n.644T>A | |
| 11 | g.46725908T>C | CA474043465 | F2 | c.609T>C (p.Ser203=) c.579T>C (p.Ser193=) n.389T>C c.561T>C (p.Ser187=) n.653T>C n.644T>C | |
| 11 | g.46725908T>G | CA380264767 | F2 | c.609T>G (p.Ser203Arg) c.579T>G (p.Ser193Arg) n.389T>G c.561T>G (p.Ser187Arg) n.653T>G n.644T>G | |
| 11 | g.46725909G>A | CA380264768 | F2 | c.610G>A (p.Val204Met) c.580G>A (p.Val194Met) n.390G>A c.562G>A (p.Val188Met) n.654G>A n.645G>A | gnomAD v4 |
| 11 | g.46725909G>C | CA380264770 | F2 | c.610G>C (p.Val204Leu) c.580G>C (p.Val194Leu) n.390G>C c.562G>C (p.Val188Leu) n.654G>C n.645G>C | |
| 11 | g.46725909G>T | CA380264771 | F2 | c.610G>T (p.Val204Leu) c.580G>T (p.Val194Leu) n.390G>T c.562G>T (p.Val188Leu) n.654G>T n.645G>T | |
| 11 | g.46725910T>A | CA380264776 | F2 | c.611T>A (p.Val204Glu) c.581T>A (p.Val194Glu) n.391T>A c.563T>A (p.Val188Glu) n.655T>A n.646T>A | |
| 11 | g.46725910T>C | CA380264774 | F2 | c.611T>C (p.Val204Ala) c.581T>C (p.Val194Ala) n.391T>C c.563T>C (p.Val188Ala) n.655T>C n.646T>C | |
| 11 | g.46725910T>G | CA380264773 | F2 | c.611T>G (p.Val204Gly) c.581T>G (p.Val194Gly) n.391T>G c.563T>G (p.Val188Gly) n.655T>G n.646T>G | |
| 11 | g.46725911G>A | CA474043483 | F2 | c.612G>A (p.Val204=) c.582G>A (p.Val194=) n.392G>A c.564G>A (p.Val188=) n.656G>A n.647G>A | |
| 11 | g.46725911G>C | CA474043484 | F2 | c.612G>C (p.Val204=) c.582G>C (p.Val194=) n.392G>C c.564G>C (p.Val188=) n.656G>C n.647G>C | gnomAD v4 |
| 11 | g.46725911G>T | CA474043486 | F2 | c.612G>T (p.Val204=) c.582G>T (p.Val194=) n.392G>T c.564G>T (p.Val188=) n.656G>T n.647G>T | |
| 11 | g.46725912A= | CA1969071979 | F2 | c.613A= (p.Asn205=) c.583A= (p.Asn195=) n.393A= c.565A= (p.Asn189=) n.657A= n.648A= | |
| 11 | g.46725912A>C | CA380264778 | F2 | c.613A>C (p.Asn205His) c.583A>C (p.Asn195His) n.393A>C c.565A>C (p.Asn189His) n.657A>C n.648A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725912A>G | CA380264779 | F2 | c.613A>G (p.Asn205Asp) c.583A>G (p.Asn195Asp) n.393A>G c.565A>G (p.Asn189Asp) n.657A>G n.648A>G | |
| 11 | g.46725912A>T | CA380264781 | F2 | c.613A>T (p.Asn205Tyr) c.583A>T (p.Asn195Tyr) n.393A>T c.565A>T (p.Asn189Tyr) n.657A>T n.648A>T | |
| 11 | g.46725913A= | CA1969071982 | F2 | c.614A= (p.Asn205=) c.584A= (p.Asn195=) n.394A= c.566A= (p.Asn189=) n.658A= n.649A= | |
| 11 | g.46725913A>C | CA380264782 | F2 | c.614A>C (p.Asn205Thr) c.584A>C (p.Asn195Thr) n.394A>C c.566A>C (p.Asn189Thr) n.658A>C n.649A>C | dbSNP |
| 11 | g.46725913A>G | CA380264784 | F2 | c.614A>G (p.Asn205Ser) c.584A>G (p.Asn195Ser) n.394A>G c.566A>G (p.Asn189Ser) n.658A>G n.649A>G | |
| 11 | g.46725913A>T | CA380264785 | F2 | c.614A>T (p.Asn205Ile) c.584A>T (p.Asn195Ile) n.394A>T c.566A>T (p.Asn189Ile) n.658A>T n.649A>T | |
| 11 | g.46725914T>A | CA380264787 | F2 | c.615T>A (p.Asn205Lys) c.585T>A (p.Asn195Lys) n.395T>A c.567T>A (p.Asn189Lys) n.659T>A n.650T>A | |
| 11 | g.46725914T>C | CA474043505 | F2 | c.615T>C (p.Asn205=) c.585T>C (p.Asn195=) n.395T>C c.567T>C (p.Asn189=) n.659T>C n.650T>C | COSMIC |
| 11 | g.46725914T>G | CA380264788 | F2 | c.615T>G (p.Asn205Lys) c.585T>G (p.Asn195Lys) n.395T>G c.567T>G (p.Asn189Lys) n.659T>G n.650T>G | |
| 11 | g.46725915C>A | CA380264790 | F2 | c.616C>A (p.Leu206Met) c.586C>A (p.Leu196Met) n.396C>A c.568C>A (p.Leu190Met) n.660C>A n.651C>A | gnomAD v4 |
| 11 | g.46725915C>G | CA380264791 | F2 | c.616C>G (p.Leu206Val) c.586C>G (p.Leu196Val) n.396C>G c.568C>G (p.Leu190Val) n.660C>G n.651C>G | |
| 11 | g.46725915C>T | CA474043510 | F2 | c.616C>T (p.Leu206=) c.586C>T (p.Leu196=) n.396C>T c.568C>T (p.Leu190=) n.660C>T n.651C>T | |
| 11 | g.46725916T>A | CA380264793 | F2 | c.617T>A (p.Leu206Gln) c.587T>A (p.Leu196Gln) n.397T>A c.569T>A (p.Leu190Gln) n.661T>A n.652T>A | gnomAD v4 |
| 11 | g.46725916T>C | CA380264795 | F2 | c.617T>C (p.Leu206Pro) c.587T>C (p.Leu196Pro) n.397T>C c.569T>C (p.Leu190Pro) n.661T>C n.652T>C | |
| 11 | g.46725916T>G | CA380264797 | F2 | c.617T>G (p.Leu206Arg) c.587T>G (p.Leu196Arg) n.397T>G c.569T>G (p.Leu190Arg) n.661T>G n.652T>G | |
| 11 | g.46725917_46725918del | CA645571955 | F2 | c.618_619del (p.Ser207ThrfsTer9) c.588_589del (p.Ser197ThrfsTer9) n.398_399del c.570_571del (p.Ser191ThrfsTer9) n.662_663del n.653_654del | COSMIC |
| 11 | g.46725917G>A | CA474043514 | F2 | c.618G>A (p.Leu206=) c.588G>A (p.Leu196=) n.398G>A c.570G>A (p.Leu190=) n.662G>A n.653G>A | |
| 11 | g.46725917G>C | CA474043516 | F2 | c.618G>C (p.Leu206=) c.588G>C (p.Leu196=) n.398G>C c.570G>C (p.Leu190=) n.662G>C n.653G>C | |
| 11 | g.46725917G>T | CA474043517 | F2 | c.618G>T (p.Leu206=) c.588G>T (p.Leu196=) n.398G>T c.570G>T (p.Leu190=) n.662G>T n.653G>T | |
| 11 | g.46725918T>A | CA380264802 | F2 | c.619T>A (p.Ser207Thr) c.589T>A (p.Ser197Thr) n.399T>A c.571T>A (p.Ser191Thr) n.663T>A n.654T>A | |
| 11 | g.46725918T>C | CA380264798 | F2 | c.619T>C (p.Ser207Pro) c.589T>C (p.Ser197Pro) n.399T>C c.571T>C (p.Ser191Pro) n.663T>C n.654T>C | gnomAD v4 |
| 11 | g.46725918T>G | CA380264800 | F2 | c.619T>G (p.Ser207Ala) c.589T>G (p.Ser197Ala) n.399T>G c.571T>G (p.Ser191Ala) n.663T>G n.654T>G | |
| 11 | g.46725919C>A | CA380264803 | F2 | c.620C>A (p.Ser207Ter) c.590C>A (p.Ser197Ter) n.400C>A c.572C>A (p.Ser191Ter) n.664C>A n.655C>A | |
| 11 | g.46725919C>G | CA380264805 | F2 | c.620C>G (p.Ser207Ter) c.590C>G (p.Ser197Ter) n.400C>G c.572C>G (p.Ser191Ter) n.664C>G n.655C>G | |
| 11 | g.46725919C>T | CA380264806 | F2 | c.620C>T (p.Ser207Leu) c.590C>T (p.Ser197Leu) n.400C>T c.572C>T (p.Ser191Leu) n.664C>T n.655C>T | |
| 11 | g.46725920A= | CA1969071985 | F2 | c.621A= (p.Ser207=) c.591A= (p.Ser197=) n.401A= c.573A= (p.Ser191=) n.665A= n.656A= | |
| 11 | g.46725920A>C | CA474043520 | F2 | c.621A>C (p.Ser207=) c.591A>C (p.Ser197=) n.401A>C c.573A>C (p.Ser191=) n.665A>C n.656A>C | dbSNP |
| 11 | g.46725920A>G | CA474043521 | F2 | c.621A>G (p.Ser207=) c.591A>G (p.Ser197=) n.401A>G c.573A>G (p.Ser191=) n.665A>G n.656A>G |