| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725897_46725905del | CA5967019 | F2 | c.598_606del (p.Glu200_Ser202del) c.568_576del (p.Glu190_Ser192del) n.378_386del c.550_558del (p.Glu184_Ser186del) n.642_650del n.633_641del | dbSNP ExAC gnomAD v2 |
| 11 | g.46725902C>A | CA474043432 | F2 | c.603C>A (p.Gly201=) c.573C>A (p.Gly191=) n.383C>A c.555C>A (p.Gly185=) n.647C>A n.638C>A | |
| 11 | g.46725902C= | CA1969071962 | F2 | c.603C= (p.Gly201=) c.573C= (p.Gly191=) n.383C= c.555C= (p.Gly185=) n.647C= n.638C= | |
| 11 | g.46725902C>G | CA474043436 | F2 | c.603C>G (p.Gly201=) c.573C>G (p.Gly191=) n.383C>G c.555C>G (p.Gly185=) n.647C>G n.638C>G | |
| 11 | g.46725902C>T | CA474043435 | F2 | c.603C>T (p.Gly201=) c.573C>T (p.Gly191=) n.383C>T c.555C>T (p.Gly185=) n.647C>T n.638C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725903T>A | CA380264745 | F2 | c.604T>A (p.Ser202Thr) c.574T>A (p.Ser192Thr) n.384T>A c.556T>A (p.Ser186Thr) n.648T>A n.639T>A | |
| 11 | g.46725903T>C | CA380264746 | F2 | c.604T>C (p.Ser202Pro) c.574T>C (p.Ser192Pro) n.384T>C c.556T>C (p.Ser186Pro) n.648T>C n.639T>C | |
| 11 | g.46725903T>G | CA380264747 | F2 | c.604T>G (p.Ser202Ala) c.574T>G (p.Ser192Ala) n.384T>G c.556T>G (p.Ser186Ala) n.648T>G n.639T>G | |
| 11 | g.46725904C>A | CA380264752 | F2 | c.605C>A (p.Ser202Tyr) c.575C>A (p.Ser192Tyr) n.385C>A c.557C>A (p.Ser186Tyr) n.649C>A n.640C>A | |
| 11 | g.46725904C= | CA1969071968 | F2 | c.605C= (p.Ser202=) c.575C= (p.Ser192=) n.385C= c.557C= (p.Ser186=) n.649C= n.640C= | |
| 11 | g.46725904C>G | CA380264751 | F2 | c.605C>G (p.Ser202Cys) c.575C>G (p.Ser192Cys) n.385C>G c.557C>G (p.Ser186Cys) n.649C>G n.640C>G | |
| 11 | g.46725904C>T | CA380264749 | F2 | c.605C>T (p.Ser202Phe) c.575C>T (p.Ser192Phe) n.385C>T c.557C>T (p.Ser186Phe) n.649C>T n.640C>T | dbSNP COSMIC |
| 11 | g.46725905C>A | CA474043452 | F2 | c.606C>A (p.Ser202=) c.576C>A (p.Ser192=) n.386C>A c.558C>A (p.Ser186=) n.650C>A n.641C>A | |
| 11 | g.46725905C= | CA1969071970 | F2 | c.606C= (p.Ser202=) c.576C= (p.Ser192=) n.386C= c.558C= (p.Ser186=) n.650C= n.641C= | |
| 11 | g.46725905C>G | CA474043449 | F2 | c.606C>G (p.Ser202=) c.576C>G (p.Ser192=) n.386C>G c.558C>G (p.Ser186=) n.650C>G n.641C>G | |
| 11 | g.46725905C>T | CA5967022 | F2 | c.606C>T (p.Ser202=) c.576C>T (p.Ser192=) n.386C>T c.558C>T (p.Ser186=) n.650C>T n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |