Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.101646710T>G | CA276362839 | TM2D3 | c.502+15A>C (n.502+15A>C) c.424+15A>C (n.424+15A>C) c.333+15A>C c.803+15A>C n.538A>C c.*870+15A>C (n.*870+15A>C) n.459A>C c.307+15A>C (n.307+15A>C) | dbSNP gnomAD v4 |
15 | g.101646710T= | CA2200628451 | TM2D3 | c.502+15A= (n.502+15A=) c.424+15A= (n.424+15A=) c.333+15A= c.803+15A= n.538A= c.*870+15A= (n.*870+15A=) n.459A= c.307+15A= (n.307+15A=) | |
15 | g.101646711G>C | CA620302627 | TM2D3 | c.502+14C>G (n.502+14C>G) c.424+14C>G (n.424+14C>G) c.333+14C>G c.803+14C>G n.537C>G c.*870+14C>G (n.*870+14C>G) n.458C>G c.307+14C>G (n.307+14C>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.101646711G= | CA2200628452 | TM2D3 | c.502+14C= (n.502+14C=) c.424+14C= (n.424+14C=) c.333+14C= c.803+14C= n.537C= c.*870+14C= (n.*870+14C=) n.458C= c.307+14C= (n.307+14C=) | |
15 | g.101646711G>T | CA2200628453 | TM2D3 | c.502+14C>A (n.502+14C>A) c.424+14C>A (n.424+14C>A) c.333+14C>A c.803+14C>A n.537C>A c.*870+14C>A (n.*870+14C>A) n.458C>A c.307+14C>A (n.307+14C>A) | dbSNP |
15 | g.101646713A= | CA2200628454 | TM2D3 | c.502+12T= (n.502+12T=) c.424+12T= (n.424+12T=) c.333+12T= c.803+12T= n.535T= c.*870+12T= (n.*870+12T=) n.456T= c.307+12T= (n.307+12T=) | |
15 | g.101646713A>C | CA973551192 | TM2D3 | c.502+12T>G (n.502+12T>G) c.424+12T>G (n.424+12T>G) c.333+12T>G c.803+12T>G n.535T>G c.*870+12T>G (n.*870+12T>G) n.456T>G c.307+12T>G (n.307+12T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646714C= | CA2200628455 | TM2D3 | c.502+11G= (n.502+11G=) c.424+11G= (n.424+11G=) c.333+11G= c.803+11G= n.534G= c.*870+11G= (n.*870+11G=) n.455G= c.307+11G= (n.307+11G=) | |
15 | g.101646714C>G | CA620302628 | TM2D3 | c.502+11G>C (n.502+11G>C) c.424+11G>C (n.424+11G>C) c.333+11G>C c.803+11G>C n.534G>C c.*870+11G>C (n.*870+11G>C) n.455G>C c.307+11G>C (n.307+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646714C>T | CA7764579 | TM2D3 | c.502+11G>A (n.502+11G>A) c.424+11G>A (n.424+11G>A) c.333+11G>A c.803+11G>A n.534G>A c.*870+11G>A (n.*870+11G>A) n.455G>A c.307+11G>A (n.307+11G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.101646715T>A | CA7764580 | TM2D3 | c.502+10A>T (n.502+10A>T) c.424+10A>T (n.424+10A>T) c.333+10A>T c.803+10A>T n.533A>T c.*870+10A>T (n.*870+10A>T) n.454A>T c.307+10A>T (n.307+10A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646715T= | CA2200628456 | TM2D3 | c.502+10A= (n.502+10A=) c.424+10A= (n.424+10A=) c.333+10A= c.803+10A= n.533A= c.*870+10A= (n.*870+10A=) n.454A= c.307+10A= (n.307+10A=) | |
15 | g.101646716C= | CA2200628457 | TM2D3 | c.502+9G= (n.502+9G=) c.424+9G= (n.424+9G=) c.333+9G= c.803+9G= n.532G= c.*870+9G= (n.*870+9G=) n.453G= c.307+9G= (n.307+9G=) | |
15 | g.101646716C>T | CA2200628458 | TM2D3 | c.502+9G>A (n.502+9G>A) c.424+9G>A (n.424+9G>A) c.333+9G>A c.803+9G>A n.532G>A c.*870+9G>A (n.*870+9G>A) n.453G>A c.307+9G>A (n.307+9G>A) | dbSNP |
15 | g.101646717T>C | CA7764581 | TM2D3 | c.502+8A>G (n.502+8A>G) c.424+8A>G (n.424+8A>G) c.333+8A>G c.803+8A>G n.531A>G c.*870+8A>G (n.*870+8A>G) n.452A>G c.307+8A>G (n.307+8A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646717T= | CA2200628459 | TM2D3 | c.502+8A= (n.502+8A=) c.424+8A= (n.424+8A=) c.333+8A= c.803+8A= n.531A= c.*870+8A= (n.*870+8A=) n.452A= c.307+8A= (n.307+8A=) | |
15 | g.101646718G>A | CA2630689648 | TM2D3 | c.502+7C>T (n.502+7C>T) c.424+7C>T (n.424+7C>T) c.333+7C>T c.803+7C>T n.530C>T c.*870+7C>T (n.*870+7C>T) n.451C>T c.307+7C>T (n.307+7C>T) | gnomAD v4 |
15 | g.101646721C= | CA2200628460 | TM2D3 | c.502+4G= (n.502+4G=) c.424+4G= (n.424+4G=) c.333+4G= c.803+4G= n.527G= c.*870+4G= (n.*870+4G=) n.448G= c.307+4G= (n.307+4G=) | |
15 | g.101646721C>G | CA2200628461 | TM2D3 | c.502+4G>C (n.502+4G>C) c.424+4G>C (n.424+4G>C) c.333+4G>C c.803+4G>C n.527G>C c.*870+4G>C (n.*870+4G>C) n.448G>C c.307+4G>C (n.307+4G>C) | dbSNP gnomAD v4 |
15 | g.101646722T>C | CA2630689649 | TM2D3 | c.502+3A>G (n.502+3A>G) c.424+3A>G (n.424+3A>G) c.333+3A>G c.803+3A>G n.526A>G c.*870+3A>G (n.*870+3A>G) n.447A>G c.307+3A>G (n.307+3A>G) | gnomAD v4 |
15 | g.101646723A>C | CA393978897 | TM2D3 | c.502+2T>G (n.502+2T>G) c.424+2T>G (n.424+2T>G) c.333+2T>G c.803+2T>G n.525T>G c.*870+2T>G (n.*870+2T>G) n.446T>G c.307+2T>G (n.307+2T>G) | gnomAD v4 |
15 | g.101646723A>G | CA393978899 | TM2D3 | c.502+2T>C (n.502+2T>C) c.424+2T>C (n.424+2T>C) c.333+2T>C c.803+2T>C n.525T>C c.*870+2T>C (n.*870+2T>C) n.446T>C c.307+2T>C (n.307+2T>C) | COSMIC |
15 | g.101646723A>T | CA393978900 | TM2D3 | c.502+2T>A (n.502+2T>A) c.424+2T>A (n.424+2T>A) c.333+2T>A c.803+2T>A n.525T>A c.*870+2T>A (n.*870+2T>A) n.446T>A c.307+2T>A (n.307+2T>A) | |
15 | g.101646724C>A | CA393978902 | TM2D3 | c.502+1G>T (n.502+1G>T) c.424+1G>T (n.424+1G>T) c.333+1G>T c.803+1G>T n.524G>T c.*870+1G>T (n.*870+1G>T) n.445G>T c.307+1G>T (n.307+1G>T) | gnomAD v4 |
15 | g.101646724C= | CA2200628462 | TM2D3 | c.502+1G= (n.502+1G=) c.424+1G= (n.424+1G=) c.333+1G= c.803+1G= n.524G= c.*870+1G= (n.*870+1G=) n.445G= c.307+1G= (n.307+1G=) | |
15 | g.101646724C>G | CA393978903 | TM2D3 | c.502+1G>C (n.502+1G>C) c.424+1G>C (n.424+1G>C) c.333+1G>C c.803+1G>C n.524G>C c.*870+1G>C (n.*870+1G>C) n.445G>C c.307+1G>C (n.307+1G>C) | |
15 | g.101646724C>T | CA393978904 | TM2D3 | c.502+1G>A (n.502+1G>A) c.424+1G>A (n.424+1G>A) c.333+1G>A c.803+1G>A n.524G>A c.*870+1G>A (n.*870+1G>A) n.445G>A c.307+1G>A (n.307+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646725C>A | CA393978906 | TM2D3 | c.502G>T (p.Gly168Cys) c.424G>T (p.Gly142Cys) c.333G>T c.803G>T n.523G>T c.*870G>T (n.*870G>T) n.444G>T c.307G>T (p.Gly103Cys) | |
15 | g.101646725C>G | CA393978908 | TM2D3 | c.502G>C (p.Gly168Arg) c.424G>C (p.Gly142Arg) c.333G>C c.803G>C n.523G>C c.*870G>C (n.*870G>C) n.444G>C c.307G>C (p.Gly103Arg) | gnomAD v4 |
15 | g.101646725C>T | CA393978910 | TM2D3 | c.502G>A (p.Gly168Ser) c.424G>A (p.Gly142Ser) c.333G>A c.803G>A n.523G>A c.*870G>A (n.*870G>A) n.444G>A c.307G>A (p.Gly103Ser) | |
15 | g.101646726C>A | CA393978912 | TM2D3 | c.501G>T (p.Leu167Phe) c.423G>T (p.Leu141Phe) c.332G>T c.802G>T n.522G>T c.*869G>T (n.*869G>T) n.443G>T c.306G>T (p.Leu102Phe) | |
15 | g.101646726C>G | CA393978914 | TM2D3 | c.501G>C (p.Leu167Phe) c.423G>C (p.Leu141Phe) c.332G>C c.802G>C n.522G>C c.*869G>C (n.*869G>C) n.443G>C c.306G>C (p.Leu102Phe) | |
15 | g.101646726C>T | CA492691462 | TM2D3 | c.501G>A (p.Leu167=) c.423G>A (p.Leu141=) c.332G>A c.802G>A n.522G>A c.*869G>A (n.*869G>A) n.443G>A c.306G>A (p.Leu102=) | |
15 | g.101646727A>C | CA393978916 | TM2D3 | c.500T>G (p.Leu167Trp) c.422T>G (p.Leu141Trp) c.331T>G c.801T>G n.521T>G c.*868T>G (n.*868T>G) n.442T>G c.305T>G (p.Leu102Trp) | |
15 | g.101646727A>G | CA393978917 | TM2D3 | c.500T>C (p.Leu167Ser) c.422T>C (p.Leu141Ser) c.331T>C c.801T>C n.521T>C c.*868T>C (n.*868T>C) n.442T>C c.305T>C (p.Leu102Ser) | |
15 | g.101646727A>T | CA393978919 | TM2D3 | c.500T>A (p.Leu167Ter) c.422T>A (p.Leu141Ter) c.331T>A c.801T>A n.521T>A c.*868T>A (n.*868T>A) n.442T>A c.305T>A (p.Leu102Ter) | |
15 | g.101646728A= | CA2200628463 | TM2D3 | c.499T= (p.Leu167=) c.421T= (p.Leu141=) c.330T= c.800T= n.520T= c.*867T= (n.*867T=) n.441T= c.304T= (p.Leu102=) | |
15 | g.101646728A>C | CA393978921 | TM2D3 | c.499T>G (p.Leu167Val) c.421T>G (p.Leu141Val) c.330T>G c.800T>G n.520T>G c.*867T>G (n.*867T>G) n.441T>G c.304T>G (p.Leu102Val) | gnomAD v4 |
15 | g.101646728A>G | CA492691463 | TM2D3 | c.499T>C (p.Leu167=) c.421T>C (p.Leu141=) c.330T>C c.800T>C n.520T>C c.*867T>C (n.*867T>C) n.441T>C c.304T>C (p.Leu102=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646728A>T | CA393978923 | TM2D3 | c.499T>A (p.Leu167Met) c.421T>A (p.Leu141Met) c.330T>A c.800T>A n.520T>A c.*867T>A (n.*867T>A) n.441T>A c.304T>A (p.Leu102Met) | |
15 | g.101646729G>A | CA492691464 | TM2D3 | c.498C>T (p.Cys166=) c.420C>T (p.Cys140=) c.329C>T c.799C>T n.519C>T c.*866C>T (n.*866C>T) n.440C>T c.303C>T (p.Cys101=) | |
15 | g.101646729G>C | CA393978924 | TM2D3 | c.498C>G (p.Cys166Trp) c.420C>G (p.Cys140Trp) c.329C>G c.799C>G n.519C>G c.*866C>G (n.*866C>G) n.440C>G c.303C>G (p.Cys101Trp) | |
15 | g.101646729G>T | CA393978926 | TM2D3 | c.498C>A (p.Cys166Ter) c.420C>A (p.Cys140Ter) c.329C>A c.799C>A n.519C>A c.*866C>A (n.*866C>A) n.440C>A c.303C>A (p.Cys101Ter) | |
15 | g.101646730C>A | CA393978928 | TM2D3 | c.497G>T (p.Cys166Phe) c.419G>T (p.Cys140Phe) c.328G>T c.798G>T n.518G>T c.*865G>T (n.*865G>T) n.439G>T c.302G>T (p.Cys101Phe) | |
15 | g.101646730C>G | CA393978930 | TM2D3 | c.497G>C (p.Cys166Ser) c.419G>C (p.Cys140Ser) c.328G>C c.798G>C n.518G>C c.*865G>C (n.*865G>C) n.439G>C c.302G>C (p.Cys101Ser) | |
15 | g.101646730C>T | CA393978931 | TM2D3 | c.497G>A (p.Cys166Tyr) c.419G>A (p.Cys140Tyr) c.328G>A c.798G>A n.518G>A c.*865G>A (n.*865G>A) n.439G>A c.302G>A (p.Cys101Tyr) | |
15 | g.101646731A>C | CA393978932 | TM2D3 | c.496T>G (p.Cys166Gly) c.418T>G (p.Cys140Gly) c.327T>G c.797T>G n.517T>G c.*864T>G (n.*864T>G) n.438T>G c.301T>G (p.Cys101Gly) | |
15 | g.101646731A>G | CA393978934 | TM2D3 | c.496T>C (p.Cys166Arg) c.418T>C (p.Cys140Arg) c.327T>C c.797T>C n.517T>C c.*864T>C (n.*864T>C) n.438T>C c.301T>C (p.Cys101Arg) | |
15 | g.101646731A>T | CA393978936 | TM2D3 | c.496T>A (p.Cys166Ser) c.418T>A (p.Cys140Ser) c.327T>A c.797T>A n.517T>A c.*864T>A (n.*864T>A) n.438T>A c.301T>A (p.Cys101Ser) | |
15 | g.101646732G>A | CA492691465 | TM2D3 | c.495C>T (p.His165=) c.417C>T (p.His139=) c.326C>T c.796C>T n.516C>T c.*863C>T (n.*863C>T) n.437C>T c.300C>T (p.His100=) | dbSNP |
15 | g.101646732G>C | CA393978939 | TM2D3 | c.495C>G (p.His165Gln) c.417C>G (p.His139Gln) c.326C>G c.796C>G n.516C>G c.*863C>G (n.*863C>G) n.437C>G c.300C>G (p.His100Gln) | gnomAD v4 |
15 | g.101646732G= | CA2200628464 | TM2D3 | c.495C= (p.His165=) c.417C= (p.His139=) c.326C= c.796C= n.516C= c.*863C= (n.*863C=) n.437C= c.300C= (p.His100=) | |
15 | g.101646732G>T | CA393978938 | TM2D3 | c.495C>A (p.His165Gln) c.417C>A (p.His139Gln) c.326C>A c.796C>A n.516C>A c.*863C>A (n.*863C>A) n.437C>A c.300C>A (p.His100Gln) | |
15 | g.101646733T>A | CA393978941 | TM2D3 | c.494A>T (p.His165Leu) c.416A>T (p.His139Leu) c.325A>T c.795A>T n.515A>T c.*862A>T (n.*862A>T) n.436A>T c.299A>T (p.His100Leu) | |
15 | g.101646733T>C | CA393978943 | TM2D3 | c.494A>G (p.His165Arg) c.416A>G (p.His139Arg) c.325A>G c.795A>G n.515A>G c.*862A>G (n.*862A>G) n.436A>G c.299A>G (p.His100Arg) | gnomAD v4 |
15 | g.101646733T>G | CA393978945 | TM2D3 | c.494A>C (p.His165Pro) c.416A>C (p.His139Pro) c.325A>C c.795A>C n.515A>C c.*862A>C (n.*862A>C) n.436A>C c.299A>C (p.His100Pro) | |
15 | g.101646734G>A | CA393978946 | TM2D3 | c.493C>T (p.His165Tyr) c.415C>T (p.His139Tyr) c.324C>T c.794C>T n.514C>T c.*861C>T (n.*861C>T) n.435C>T c.298C>T (p.His100Tyr) | gnomAD v4 |
15 | g.101646734G>C | CA393978948 | TM2D3 | c.493C>G (p.His165Asp) c.415C>G (p.His139Asp) c.324C>G c.794C>G n.514C>G c.*861C>G (n.*861C>G) n.435C>G c.298C>G (p.His100Asp) | |
15 | g.101646734G>T | CA393978950 | TM2D3 | c.493C>A (p.His165Asn) c.415C>A (p.His139Asn) c.324C>A c.794C>A n.514C>A c.*861C>A (n.*861C>A) n.435C>A c.298C>A (p.His100Asn) | |
15 | g.101646735G>A | CA492691466 | TM2D3 | c.492C>T (p.Val164=) c.414C>T (p.Val138=) c.323C>T c.793C>T n.513C>T c.*860C>T (n.*860C>T) n.434C>T c.297C>T (p.Val99=) | gnomAD v4 |
15 | g.101646735G>C | CA492691467 | TM2D3 | c.492C>G (p.Val164=) c.414C>G (p.Val138=) c.323C>G c.793C>G n.513C>G c.*860C>G (n.*860C>G) n.434C>G c.297C>G (p.Val99=) | |
15 | g.101646735G>T | CA492691468 | TM2D3 | c.492C>A (p.Val164=) c.414C>A (p.Val138=) c.323C>A c.793C>A n.513C>A c.*860C>A (n.*860C>A) n.434C>A c.297C>A (p.Val99=) | |
15 | g.101646736A>C | CA393978952 | TM2D3 | c.491T>G (p.Val164Gly) c.413T>G (p.Val138Gly) c.322T>G c.792T>G n.512T>G c.*859T>G (n.*859T>G) n.433T>G c.296T>G (p.Val99Gly) | |
15 | g.101646736A>G | CA393978953 | TM2D3 | c.491T>C (p.Val164Ala) c.413T>C (p.Val138Ala) c.322T>C c.792T>C n.512T>C c.*859T>C (n.*859T>C) n.433T>C c.296T>C (p.Val99Ala) | |
15 | g.101646736A>T | CA393978954 | TM2D3 | c.491T>A (p.Val164Asp) c.413T>A (p.Val138Asp) c.322T>A c.792T>A n.512T>A c.*859T>A (n.*859T>A) n.433T>A c.296T>A (p.Val99Asp) | |
15 | g.101646737C>A | CA393978956 | TM2D3 | c.490G>T (p.Val164Phe) c.412G>T (p.Val138Phe) c.321G>T c.791G>T n.511G>T c.*858G>T (n.*858G>T) n.432G>T c.295G>T (p.Val99Phe) | gnomAD v4 |
15 | g.101646737C= | CA2200628465 | TM2D3 | c.490G= (p.Val164=) c.412G= (p.Val138=) c.321G= c.791G= n.511G= c.*858G= (n.*858G=) n.432G= c.295G= (p.Val99=) | |
15 | g.101646737C>G | CA393978958 | TM2D3 | c.490G>C (p.Val164Leu) c.412G>C (p.Val138Leu) c.321G>C c.791G>C n.511G>C c.*858G>C (n.*858G>C) n.432G>C c.295G>C (p.Val99Leu) | |
15 | g.101646737C>T | CA393978959 | TM2D3 | c.490G>A (p.Val164Ile) c.412G>A (p.Val138Ile) c.321G>A c.791G>A n.511G>A c.*858G>A (n.*858G>A) n.432G>A c.295G>A (p.Val99Ile) | dbSNP gnomAD v4 |
15 | g.101646738G>A | CA276362927 | TM2D3 | c.489C>T (p.His163=) c.411C>T (p.His137=) c.320C>T c.790C>T n.510C>T c.*857C>T (n.*857C>T) n.431C>T c.294C>T (p.His98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646738G>C | CA393978963 | TM2D3 | c.489C>G (p.His163Gln) c.411C>G (p.His137Gln) c.320C>G c.790C>G n.510C>G c.*857C>G (n.*857C>G) n.431C>G c.294C>G (p.His98Gln) | |
15 | g.101646738G= | CA2200628466 | TM2D3 | c.489C= (p.His163=) c.411C= (p.His137=) c.320C= c.790C= n.510C= c.*857C= (n.*857C=) n.431C= c.294C= (p.His98=) | |
15 | g.101646738G>T | CA393978961 | TM2D3 | c.489C>A (p.His163Gln) c.411C>A (p.His137Gln) c.320C>A c.790C>A n.510C>A c.*857C>A (n.*857C>A) n.431C>A c.294C>A (p.His98Gln) | |
15 | g.101646739T>A | CA393978965 | TM2D3 | c.488A>T (p.His163Leu) c.410A>T (p.His137Leu) c.319A>T c.789A>T n.509A>T c.*856A>T (n.*856A>T) n.430A>T c.293A>T (p.His98Leu) | |
15 | g.101646739T>C | CA393978969 | TM2D3 | c.488A>G (p.His163Arg) c.410A>G (p.His137Arg) c.319A>G c.789A>G n.509A>G c.*856A>G (n.*856A>G) n.430A>G c.293A>G (p.His98Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646739T>G | CA393978967 | TM2D3 | c.488A>C (p.His163Pro) c.410A>C (p.His137Pro) c.319A>C c.789A>C n.509A>C c.*856A>C (n.*856A>C) n.430A>C c.293A>C (p.His98Pro) | |
15 | g.101646739T= | CA2200628468 | TM2D3 | c.488A= (p.His163=) c.410A= (p.His137=) c.319A= c.789A= n.509A= c.*856A= (n.*856A=) n.430A= c.293A= (p.His98=) | |
15 | g.101646739_101646750delinsTGGTCCCGCACC | CA2200628467 | TM2D3 | c.477_488delinsGGTGCGGGACCA (p.Thr159=) c.399_410delinsGGTGCGGGACCA (p.Thr133=) c.308_319delinsGGTGCGGGACCA c.778_789delinsGGTGCGGGACCA n.498_509delinsGGTGCGGGACCA c.*845_*856delinsGGTGCGGGACCA (n.*845_*856delinsGGTGCGGGACCA) n.419_430delinsGGTGCGGGACCA c.282_293delinsGGTGCGGGACCA (p.Thr94=) | |
15 | g.101646740G>A | CA7764583 | TM2D3 | c.487C>T (p.His163Tyr) c.409C>T (p.His137Tyr) c.318C>T c.788C>T n.508C>T c.*855C>T (n.*855C>T) n.429C>T c.292C>T (p.His98Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646740G>C | CA393978971 | TM2D3 | c.487C>G (p.His163Asp) c.409C>G (p.His137Asp) c.318C>G c.788C>G n.508C>G c.*855C>G (n.*855C>G) n.429C>G c.292C>G (p.His98Asp) | |
15 | g.101646740G= | CA2200628469 | TM2D3 | c.487C= (p.His163=) c.409C= (p.His137=) c.318C= c.788C= n.508C= c.*855C= (n.*855C=) n.429C= c.292C= (p.His98=) | |
15 | g.101646740G>T | CA393978973 | TM2D3 | c.487C>A (p.His163Asn) c.409C>A (p.His137Asn) c.318C>A c.788C>A n.508C>A c.*855C>A (n.*855C>A) n.429C>A c.292C>A (p.His98Asn) | |
15 | g.101646741_101646751del | CA7764582 | TM2D3 | c.477_487del (p.Val160ArgfsTer6) c.399_409del (p.Val134ArgfsTer6) c.308_318del c.778_788del n.498_508del c.*845_*855del (n.*845_*855del) n.419_429del c.282_292del (p.Val95ArgfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646741G>A | CA7764584 | TM2D3 | c.486C>T (p.Asp162=) c.408C>T (p.Asp136=) c.317C>T c.787C>T n.507C>T c.*854C>T (n.*854C>T) n.428C>T c.291C>T (p.Asp97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646741G>C | CA393978976 | TM2D3 | c.486C>G (p.Asp162Glu) c.408C>G (p.Asp136Glu) c.317C>G c.787C>G n.507C>G c.*854C>G (n.*854C>G) n.428C>G c.291C>G (p.Asp97Glu) | |
15 | g.101646741G= | CA2200628470 | TM2D3 | c.486C= (p.Asp162=) c.408C= (p.Asp136=) c.317C= c.787C= n.507C= c.*854C= (n.*854C=) n.428C= c.291C= (p.Asp97=) | |
15 | g.101646741G>T | CA393978977 | TM2D3 | c.486C>A (p.Asp162Glu) c.408C>A (p.Asp136Glu) c.317C>A c.787C>A n.507C>A c.*854C>A (n.*854C>A) n.428C>A c.291C>A (p.Asp97Glu) | |
15 | g.101646742T>A | CA393978979 | TM2D3 | c.485A>T (p.Asp162Val) c.407A>T (p.Asp136Val) c.316A>T c.786A>T n.506A>T c.*853A>T (n.*853A>T) n.427A>T c.290A>T (p.Asp97Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646742T>C | CA393978981 | TM2D3 | c.485A>G (p.Asp162Gly) c.407A>G (p.Asp136Gly) c.316A>G c.786A>G n.506A>G c.*853A>G (n.*853A>G) n.427A>G c.290A>G (p.Asp97Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646742T>G | CA393978983 | TM2D3 | c.485A>C (p.Asp162Ala) c.407A>C (p.Asp136Ala) c.316A>C c.786A>C n.506A>C c.*853A>C (n.*853A>C) n.427A>C c.290A>C (p.Asp97Ala) | |
15 | g.101646742T= | CA2200628471 | TM2D3 | c.485A= (p.Asp162=) c.407A= (p.Asp136=) c.316A= c.786A= n.506A= c.*853A= (n.*853A=) n.427A= c.290A= (p.Asp97=) | |
15 | g.101646743C>A | CA393978984 | TM2D3 | c.484G>T (p.Asp162Tyr) c.406G>T (p.Asp136Tyr) c.315G>T c.785G>T n.505G>T c.*852G>T (n.*852G>T) n.426G>T c.289G>T (p.Asp97Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646743C= | CA2200628472 | TM2D3 | c.484G= (p.Asp162=) c.406G= (p.Asp136=) c.315G= c.785G= n.505G= c.*852G= (n.*852G=) n.426G= c.289G= (p.Asp97=) | |
15 | g.101646743C>G | CA393978986 | TM2D3 | c.484G>C (p.Asp162His) c.406G>C (p.Asp136His) c.315G>C c.785G>C n.505G>C c.*852G>C (n.*852G>C) n.426G>C c.289G>C (p.Asp97His) | |
15 | g.101646743C>T | CA393978988 | TM2D3 | c.484G>A (p.Asp162Asn) c.406G>A (p.Asp136Asn) c.315G>A c.785G>A n.505G>A c.*852G>A (n.*852G>A) n.426G>A c.289G>A (p.Asp97Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646744C>A | CA492691469 | TM2D3 | c.483G>T (p.Arg161=) c.405G>T (p.Arg135=) c.314G>T c.784G>T n.504G>T c.*851G>T (n.*851G>T) n.425G>T c.288G>T (p.Arg96=) | |
15 | g.101646744C= | CA2200628473 | TM2D3 | c.483G= (p.Arg161=) c.405G= (p.Arg135=) c.314G= c.784G= n.504G= c.*851G= (n.*851G=) n.425G= c.288G= (p.Arg96=) | |
15 | g.101646744C>G | CA492691471 | TM2D3 | c.483G>C (p.Arg161=) c.405G>C (p.Arg135=) c.314G>C c.784G>C n.504G>C c.*851G>C (n.*851G>C) n.425G>C c.288G>C (p.Arg96=) | |
15 | g.101646744C>T | CA492691470 | TM2D3 | c.483G>A (p.Arg161=) c.405G>A (p.Arg135=) c.314G>A c.784G>A n.504G>A c.*851G>A (n.*851G>A) n.425G>A c.288G>A (p.Arg96=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646745C>A | CA393978989 | TM2D3 | c.482G>T (p.Arg161Leu) c.404G>T (p.Arg135Leu) c.313G>T c.783G>T n.503G>T c.*850G>T (n.*850G>T) n.424G>T c.287G>T (p.Arg96Leu) | |
15 | g.101646745C= | CA2200628474 | TM2D3 | c.482G= (p.Arg161=) c.404G= (p.Arg135=) c.313G= c.783G= n.503G= c.*850G= (n.*850G=) n.424G= c.287G= (p.Arg96=) | |
15 | g.101646745C>G | CA393978992 | TM2D3 | c.482G>C (p.Arg161Pro) c.404G>C (p.Arg135Pro) c.313G>C c.783G>C n.503G>C c.*850G>C (n.*850G>C) n.424G>C c.287G>C (p.Arg96Pro) | |
15 | g.101646745C>T | CA7764585 | TM2D3 | c.482G>A (p.Arg161Gln) c.404G>A (p.Arg135Gln) c.313G>A c.783G>A n.503G>A c.*850G>A (n.*850G>A) n.424G>A c.287G>A (p.Arg96Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.101646746G>A | CA7764586 | TM2D3 | c.481C>T (p.Arg161Trp) c.403C>T (p.Arg135Trp) c.312C>T c.782C>T n.502C>T c.*849C>T (n.*849C>T) n.423C>T c.286C>T (p.Arg96Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646746G>C | CA393978994 | TM2D3 | c.481C>G (p.Arg161Gly) c.403C>G (p.Arg135Gly) c.312C>G c.782C>G n.502C>G c.*849C>G (n.*849C>G) n.423C>G c.286C>G (p.Arg96Gly) | |
15 | g.101646746G= | CA2200628475 | TM2D3 | c.481C= (p.Arg161=) c.403C= (p.Arg135=) c.312C= c.782C= n.502C= c.*849C= (n.*849C=) n.423C= c.286C= (p.Arg96=) | |
15 | g.101646746G>T | CA492691472 | TM2D3 | c.481C>A (p.Arg161=) c.403C>A (p.Arg135=) c.312C>A c.782C>A n.502C>A c.*849C>A (n.*849C>A) n.423C>A c.286C>A (p.Arg96=) | |
15 | g.101646747C>A | CA492691473 | TM2D3 | c.480G>T (p.Val160=) c.402G>T (p.Val134=) c.311G>T c.781G>T n.501G>T c.*848G>T (n.*848G>T) n.422G>T c.285G>T (p.Val95=) | |
15 | g.101646747C= | CA2200628476 | TM2D3 | c.480G= (p.Val160=) c.402G= (p.Val134=) c.311G= c.781G= n.501G= c.*848G= (n.*848G=) n.422G= c.285G= (p.Val95=) | |
15 | g.101646747C>G | CA492691474 | TM2D3 | c.480G>C (p.Val160=) c.402G>C (p.Val134=) c.311G>C c.781G>C n.501G>C c.*848G>C (n.*848G>C) n.422G>C c.285G>C (p.Val95=) | dbSNP |
15 | g.101646747C>T | CA492691475 | TM2D3 | c.480G>A (p.Val160=) c.402G>A (p.Val134=) c.311G>A c.781G>A n.501G>A c.*848G>A (n.*848G>A) n.422G>A c.285G>A (p.Val95=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.101646748A>C | CA393978995 | TM2D3 | c.479T>G (p.Val160Gly) c.401T>G (p.Val134Gly) c.310T>G c.780T>G n.500T>G c.*847T>G (n.*847T>G) n.421T>G c.284T>G (p.Val95Gly) | gnomAD v4 |
15 | g.101646748A>G | CA393978997 | TM2D3 | c.479T>C (p.Val160Ala) c.401T>C (p.Val134Ala) c.310T>C c.780T>C n.500T>C c.*847T>C (n.*847T>C) n.421T>C c.284T>C (p.Val95Ala) | |
15 | g.101646748A>T | CA393978999 | TM2D3 | c.479T>A (p.Val160Glu) c.401T>A (p.Val134Glu) c.310T>A c.780T>A n.500T>A c.*847T>A (n.*847T>A) n.421T>A c.284T>A (p.Val95Glu) | |
15 | g.101646749C>A | CA393979000 | TM2D3 | c.478G>T (p.Val160Leu) c.400G>T (p.Val134Leu) c.309G>T c.779G>T n.499G>T c.*846G>T (n.*846G>T) n.420G>T c.283G>T (p.Val95Leu) | |
15 | g.101646749C>G | CA393979001 | TM2D3 | c.478G>C (p.Val160Leu) c.400G>C (p.Val134Leu) c.309G>C c.779G>C n.499G>C c.*846G>C (n.*846G>C) n.420G>C c.283G>C (p.Val95Leu) | |
15 | g.101646749C>T | CA393979002 | TM2D3 | c.478G>A (p.Val160Met) c.400G>A (p.Val134Met) c.309G>A c.779G>A n.499G>A c.*846G>A (n.*846G>A) n.420G>A c.283G>A (p.Val95Met) | gnomAD v4 |
15 | g.101646750C>A | CA492691476 | TM2D3 | c.477G>T (p.Thr159=) c.399G>T (p.Thr133=) c.308G>T c.778G>T n.498G>T c.*845G>T (n.*845G>T) n.419G>T c.282G>T (p.Thr94=) | |
15 | g.101646750C= | CA2200628477 | TM2D3 | c.477G= (p.Thr159=) c.399G= (p.Thr133=) c.308G= c.778G= n.498G= c.*845G= (n.*845G=) n.419G= c.282G= (p.Thr94=) | |
15 | g.101646750C>G | CA492691477 | TM2D3 | c.477G>C (p.Thr159=) c.399G>C (p.Thr133=) c.308G>C c.778G>C n.498G>C c.*845G>C (n.*845G>C) n.419G>C c.282G>C (p.Thr94=) | |
15 | g.101646750C>T | CA7764587 | TM2D3 | c.477G>A (p.Thr159=) c.399G>A (p.Thr133=) c.308G>A c.778G>A n.498G>A c.*845G>A (n.*845G>A) n.419G>A c.282G>A (p.Thr94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646751G>A | CA7764588 | TM2D3 | c.476C>T (p.Thr159Met) c.398C>T (p.Thr133Met) c.307C>T c.777C>T n.497C>T c.*844C>T (n.*844C>T) n.418C>T c.281C>T (p.Thr94Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.101646751G>C | CA393979006 | TM2D3 | c.476C>G (p.Thr159Arg) c.398C>G (p.Thr133Arg) c.307C>G c.777C>G n.497C>G c.*844C>G (n.*844C>G) n.418C>G c.281C>G (p.Thr94Arg) | |
15 | g.101646751G= | CA2200628478 | TM2D3 | c.476C= (p.Thr159=) c.398C= (p.Thr133=) c.307C= c.777C= n.497C= c.*844C= (n.*844C=) n.418C= c.281C= (p.Thr94=) | |
15 | g.101646751G>T | CA393979005 | TM2D3 | c.476C>A (p.Thr159Lys) c.398C>A (p.Thr133Lys) c.307C>A c.777C>A n.497C>A c.*844C>A (n.*844C>A) n.418C>A c.281C>A (p.Thr94Lys) | |
15 | g.101646752T>A | CA393979009 | TM2D3 | c.475A>T (p.Thr159Ser) c.397A>T (p.Thr133Ser) c.306A>T c.776A>T n.496A>T c.*843A>T (n.*843A>T) n.417A>T c.280A>T (p.Thr94Ser) | gnomAD v4 |
15 | g.101646752T>C | CA393979011 | TM2D3 | c.475A>G (p.Thr159Ala) c.397A>G (p.Thr133Ala) c.306A>G c.776A>G n.496A>G c.*843A>G (n.*843A>G) n.417A>G c.280A>G (p.Thr94Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646752T>G | CA393979012 | TM2D3 | c.475A>C (p.Thr159Pro) c.397A>C (p.Thr133Pro) c.306A>C c.776A>C n.496A>C c.*843A>C (n.*843A>C) n.417A>C c.280A>C (p.Thr94Pro) | |
15 | g.101646752T= | CA2200628479 | TM2D3 | c.475A= (p.Thr159=) c.397A= (p.Thr133=) c.306A= c.776A= n.496A= c.*843A= (n.*843A=) n.417A= c.280A= (p.Thr94=) | |
15 | g.101646753G>A | CA492691478 | TM2D3 | c.474C>T (p.Cys158=) c.396C>T (p.Cys132=) c.305C>T c.775C>T n.495C>T c.*842C>T (n.*842C>T) n.416C>T c.279C>T (p.Cys93=) | dbSNP |
15 | g.101646753G>C | CA393979014 | TM2D3 | c.474C>G (p.Cys158Trp) c.396C>G (p.Cys132Trp) c.305C>G c.775C>G n.495C>G c.*842C>G (n.*842C>G) n.416C>G c.279C>G (p.Cys93Trp) | |
15 | g.101646753G= | CA2200628480 | TM2D3 | c.474C= (p.Cys158=) c.396C= (p.Cys132=) c.305C= c.775C= n.495C= c.*842C= (n.*842C=) n.416C= c.279C= (p.Cys93=) | |
15 | g.101646753G>T | CA276362975 | TM2D3 | c.474C>A (p.Cys158Ter) c.396C>A (p.Cys132Ter) c.305C>A c.775C>A n.495C>A c.*842C>A (n.*842C>A) n.416C>A c.279C>A (p.Cys93Ter) | dbSNP |
15 | g.101646754C>A | CA393979017 | TM2D3 | c.473G>T (p.Cys158Phe) c.395G>T (p.Cys132Phe) c.304G>T c.774G>T n.494G>T c.*841G>T (n.*841G>T) n.415G>T c.278G>T (p.Cys93Phe) | gnomAD v4 |
15 | g.101646754C>G | CA393979019 | TM2D3 | c.473G>C (p.Cys158Ser) c.395G>C (p.Cys132Ser) c.304G>C c.774G>C n.494G>C c.*841G>C (n.*841G>C) n.415G>C c.278G>C (p.Cys93Ser) | |
15 | g.101646754C>T | CA393979020 | TM2D3 | c.473G>A (p.Cys158Tyr) c.395G>A (p.Cys132Tyr) c.304G>A c.774G>A n.494G>A c.*841G>A (n.*841G>A) n.415G>A c.278G>A (p.Cys93Tyr) | |
15 | g.101646755A>C | CA393979022 | TM2D3 | c.472T>G (p.Cys158Gly) c.394T>G (p.Cys132Gly) c.303T>G c.773T>G n.493T>G c.*840T>G (n.*840T>G) n.414T>G c.277T>G (p.Cys93Gly) | |
15 | g.101646755A>G | CA393979024 | TM2D3 | c.472T>C (p.Cys158Arg) c.394T>C (p.Cys132Arg) c.303T>C c.773T>C n.493T>C c.*840T>C (n.*840T>C) n.414T>C c.277T>C (p.Cys93Arg) | gnomAD v4 |
15 | g.101646755A>T | CA393979026 | TM2D3 | c.472T>A (p.Cys158Ser) c.394T>A (p.Cys132Ser) c.303T>A c.773T>A n.493T>A c.*840T>A (n.*840T>A) n.414T>A c.277T>A (p.Cys93Ser) | |
15 | g.101646755dup | CA2630689650 | TM2D3 | c.472dup (p.Cys158LeufsTer12) c.394dup (p.Cys132LeufsTer12) c.303dup c.773dup n.493dup c.*840dup (n.*840dup) n.414dup c.277dup (p.Cys93LeufsTer12) | gnomAD v4 |
15 | g.101646756G>A | CA492691479 | TM2D3 | c.471C>T (p.Asn157=) c.393C>T (p.Asn131=) c.302C>T c.772C>T n.492C>T c.*839C>T (n.*839C>T) n.413C>T c.276C>T (p.Asn92=) | gnomAD v4 |
15 | g.101646756G>C | CA393979028 | TM2D3 | c.471C>G (p.Asn157Lys) c.393C>G (p.Asn131Lys) c.302C>G c.772C>G n.492C>G c.*839C>G (n.*839C>G) n.413C>G c.276C>G (p.Asn92Lys) | |
15 | g.101646756G>T | CA393979030 | TM2D3 | c.471C>A (p.Asn157Lys) c.393C>A (p.Asn131Lys) c.302C>A c.772C>A n.492C>A c.*839C>A (n.*839C>A) n.413C>A c.276C>A (p.Asn92Lys) | |
15 | g.101646757T>A | CA393979033 | TM2D3 | c.470A>T (p.Asn157Ile) c.392A>T (p.Asn131Ile) c.301A>T c.771A>T n.491A>T c.*838A>T (n.*838A>T) n.412A>T c.275A>T (p.Asn92Ile) | |
15 | g.101646757T>C | CA393979031 | TM2D3 | c.470A>G (p.Asn157Ser) c.392A>G (p.Asn131Ser) c.301A>G c.771A>G n.491A>G c.*838A>G (n.*838A>G) n.412A>G c.275A>G (p.Asn92Ser) | gnomAD v4 |
15 | g.101646757T>G | CA393979032 | TM2D3 | c.470A>C (p.Asn157Thr) c.392A>C (p.Asn131Thr) c.301A>C c.771A>C n.491A>C c.*838A>C (n.*838A>C) n.412A>C c.275A>C (p.Asn92Thr) | dbSNP gnomAD v4 |
15 | g.101646757T= | CA2200628481 | TM2D3 | c.470A= (p.Asn157=) c.392A= (p.Asn131=) c.301A= c.771A= n.491A= c.*838A= (n.*838A=) n.412A= c.275A= (p.Asn92=) | |
15 | g.101646758T>A | CA393979035 | TM2D3 | c.469A>T (p.Asn157Tyr) c.391A>T (p.Asn131Tyr) c.300A>T c.770A>T n.490A>T c.*837A>T (n.*837A>T) n.411A>T c.274A>T (p.Asn92Tyr) | |
15 | g.101646758T>C | CA393979037 | TM2D3 | c.469A>G (p.Asn157Asp) c.391A>G (p.Asn131Asp) c.300A>G c.770A>G n.490A>G c.*837A>G (n.*837A>G) n.411A>G c.274A>G (p.Asn92Asp) | |
15 | g.101646758T>G | CA393979038 | TM2D3 | c.469A>C (p.Asn157His) c.391A>C (p.Asn131His) c.300A>C c.770A>C n.490A>C c.*837A>C (n.*837A>C) n.411A>C c.274A>C (p.Asn92His) | |
15 | g.101646759G>A | CA492691480 | TM2D3 | c.468C>T (p.Ala156=) c.390C>T (p.Ala130=) c.299C>T c.769C>T n.489C>T c.*836C>T (n.*836C>T) n.410C>T c.273C>T (p.Ala91=) | |
15 | g.101646759G>C | CA492691481 | TM2D3 | c.468C>G (p.Ala156=) c.390C>G (p.Ala130=) c.299C>G c.769C>G n.489C>G c.*836C>G (n.*836C>G) n.410C>G c.273C>G (p.Ala91=) | gnomAD v4 |
15 | g.101646759G= | CA2200628482 | TM2D3 | c.468C= (p.Ala156=) c.390C= (p.Ala130=) c.299C= c.769C= n.489C= c.*836C= (n.*836C=) n.410C= c.273C= (p.Ala91=) | |
15 | g.101646759G>T | CA276362977 | TM2D3 | c.468C>A (p.Ala156=) c.390C>A (p.Ala130=) c.299C>A c.769C>A n.489C>A c.*836C>A (n.*836C>A) n.410C>A c.273C>A (p.Ala91=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646760G>A | CA393979039 | TM2D3 | c.467C>T (p.Ala156Val) c.389C>T (p.Ala130Val) c.298C>T c.768C>T n.488C>T c.*835C>T (n.*835C>T) n.409C>T c.272C>T (p.Ala91Val) | |
15 | g.101646760G>C | CA393979041 | TM2D3 | c.467C>G (p.Ala156Gly) c.389C>G (p.Ala130Gly) c.298C>G c.768C>G n.488C>G c.*835C>G (n.*835C>G) n.409C>G c.272C>G (p.Ala91Gly) | |
15 | g.101646760G>T | CA393979043 | TM2D3 | c.467C>A (p.Ala156Asp) c.389C>A (p.Ala130Asp) c.298C>A c.768C>A n.488C>A c.*835C>A (n.*835C>A) n.409C>A c.272C>A (p.Ala91Asp) | |
15 | g.101646761C>A | CA393979045 | TM2D3 | c.466G>T (p.Ala156Ser) c.388G>T (p.Ala130Ser) c.297G>T c.767G>T n.487G>T c.*834G>T (n.*834G>T) n.408G>T c.271G>T (p.Ala91Ser) | |
15 | g.101646761C>G | CA393979046 | TM2D3 | c.466G>C (p.Ala156Pro) c.388G>C (p.Ala130Pro) c.297G>C c.767G>C n.487G>C c.*834G>C (n.*834G>C) n.408G>C c.271G>C (p.Ala91Pro) | |
15 | g.101646761C>T | CA393979048 | TM2D3 | c.466G>A (p.Ala156Thr) c.388G>A (p.Ala130Thr) c.297G>A c.767G>A n.487G>A c.*834G>A (n.*834G>A) n.408G>A c.271G>A (p.Ala91Thr) | |
15 | g.101646762A= | CA2200628483 | TM2D3 | c.465T= (p.Pro155=) c.387T= (p.Pro129=) c.296T= c.766T= n.486T= c.*833T= (n.*833T=) n.407T= c.270T= (p.Pro90=) | |
15 | g.101646762A>C | CA492691482 | TM2D3 | c.465T>G (p.Pro155=) c.387T>G (p.Pro129=) c.296T>G c.766T>G n.486T>G c.*833T>G (n.*833T>G) n.407T>G c.270T>G (p.Pro90=) | dbSNP |
15 | g.101646762A>G | CA492691483 | TM2D3 | c.465T>C (p.Pro155=) c.387T>C (p.Pro129=) c.296T>C c.766T>C n.486T>C c.*833T>C (n.*833T>C) n.407T>C c.270T>C (p.Pro90=) | |
15 | g.101646762A>T | CA492691484 | TM2D3 | c.465T>A (p.Pro155=) c.387T>A (p.Pro129=) c.296T>A c.766T>A n.486T>A c.*833T>A (n.*833T>A) n.407T>A c.270T>A (p.Pro90=) | |
15 | g.101646763G>A | CA7764589 | TM2D3 | c.464C>T (p.Pro155Leu) c.386C>T (p.Pro129Leu) c.295C>T c.765C>T n.485C>T c.*832C>T (n.*832C>T) n.406C>T c.269C>T (p.Pro90Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646763G>C | CA393979050 | TM2D3 | c.464C>G (p.Pro155Arg) c.386C>G (p.Pro129Arg) c.295C>G c.765C>G n.485C>G c.*832C>G (n.*832C>G) n.406C>G c.269C>G (p.Pro90Arg) | |
15 | g.101646763G= | CA2200628484 | TM2D3 | c.464C= (p.Pro155=) c.386C= (p.Pro129=) c.295C= c.765C= n.485C= c.*832C= (n.*832C=) n.406C= c.269C= (p.Pro90=) | |
15 | g.101646763G>T | CA393979052 | TM2D3 | c.464C>A (p.Pro155His) c.386C>A (p.Pro129His) c.295C>A c.765C>A n.485C>A c.*832C>A (n.*832C>A) n.406C>A c.269C>A (p.Pro90His) | |
15 | g.101646765del | CA2630689651 | TM2D3 | c.464del (p.Pro155LeufsTer?) c.386del (p.Pro129LeufsTer?) c.295del c.765del n.485del c.*832del (n.*832del) n.406del c.269del (p.Pro90LeufsTer?) | gnomAD v4 |
15 | g.101646764G>A | CA393979056 | TM2D3 | c.463C>T (p.Pro155Ser) c.385C>T (p.Pro129Ser) c.294C>T c.764C>T n.484C>T c.*831C>T (n.*831C>T) n.405C>T c.268C>T (p.Pro90Ser) | |
15 | g.101646764G>C | CA393979058 | TM2D3 | c.463C>G (p.Pro155Ala) c.385C>G (p.Pro129Ala) c.294C>G c.764C>G n.484C>G c.*831C>G (n.*831C>G) n.405C>G c.268C>G (p.Pro90Ala) | |
15 | g.101646764G>T | CA393979054 | TM2D3 | c.463C>A (p.Pro155Thr) c.385C>A (p.Pro129Thr) c.294C>A c.764C>A n.484C>A c.*831C>A (n.*831C>A) n.405C>A c.268C>A (p.Pro90Thr) | |
15 | g.101646765G>A | CA492691485 | TM2D3 | c.462C>T (p.Tyr154=) c.384C>T (p.Tyr128=) c.293C>T c.763C>T n.483C>T c.*830C>T (n.*830C>T) n.404C>T c.267C>T (p.Tyr89=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646765G>C | CA393979064 | TM2D3 | c.462C>G (p.Tyr154Ter) c.384C>G (p.Tyr128Ter) c.293C>G c.763C>G n.483C>G c.*830C>G (n.*830C>G) n.404C>G c.267C>G (p.Tyr89Ter) | |
15 | g.101646765G= | CA2200628485 | TM2D3 | c.462C= (p.Tyr154=) c.384C= (p.Tyr128=) c.293C= c.763C= n.483C= c.*830C= (n.*830C=) n.404C= c.267C= (p.Tyr89=) | |
15 | g.101646765G>T | CA393979061 | TM2D3 | c.462C>A (p.Tyr154Ter) c.384C>A (p.Tyr128Ter) c.293C>A c.763C>A n.483C>A c.*830C>A (n.*830C>A) n.404C>A c.267C>A (p.Tyr89Ter) | |
15 | g.101646766T>A | CA393979067 | TM2D3 | c.461A>T (p.Tyr154Phe) c.383A>T (p.Tyr128Phe) c.292A>T c.762A>T n.482A>T c.*829A>T (n.*829A>T) n.403A>T c.266A>T (p.Tyr89Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646766T>C | CA393979070 | TM2D3 | c.461A>G (p.Tyr154Cys) c.383A>G (p.Tyr128Cys) c.292A>G c.762A>G n.482A>G c.*829A>G (n.*829A>G) n.403A>G c.266A>G (p.Tyr89Cys) | gnomAD v4 |
15 | g.101646766T>G | CA393979072 | TM2D3 | c.461A>C (p.Tyr154Ser) c.383A>C (p.Tyr128Ser) c.292A>C c.762A>C n.482A>C c.*829A>C (n.*829A>C) n.403A>C c.266A>C (p.Tyr89Ser) | gnomAD v4 |
15 | g.101646766T= | CA2200628486 | TM2D3 | c.461A= (p.Tyr154=) c.383A= (p.Tyr128=) c.292A= c.762A= n.482A= c.*829A= (n.*829A=) n.403A= c.266A= (p.Tyr89=) | |
15 | g.101646767A= | CA2200628487 | TM2D3 | c.460T= (p.Tyr154=) c.382T= (p.Tyr128=) c.291T= c.761T= n.481T= c.*828T= (n.*828T=) n.402T= c.265T= (p.Tyr89=) | |
15 | g.101646767A>C | CA393979073 | TM2D3 | c.460T>G (p.Tyr154Asp) c.382T>G (p.Tyr128Asp) c.291T>G c.761T>G n.481T>G c.*828T>G (n.*828T>G) n.402T>G c.265T>G (p.Tyr89Asp) | |
15 | g.101646767A>G | CA393979076 | TM2D3 | c.460T>C (p.Tyr154His) c.382T>C (p.Tyr128His) c.291T>C c.761T>C n.481T>C c.*828T>C (n.*828T>C) n.402T>C c.265T>C (p.Tyr89His) | dbSNP gnomAD v4 |
15 | g.101646767A>T | CA393979079 | TM2D3 | c.460T>A (p.Tyr154Asn) c.382T>A (p.Tyr128Asn) c.291T>A c.761T>A n.481T>A c.*828T>A (n.*828T>A) n.402T>A c.265T>A (p.Tyr89Asn) | |
15 | g.101646768G>A | CA492691486 | TM2D3 | c.459C>T (p.Arg153=) c.381C>T (p.Arg127=) c.290C>T c.760C>T n.480C>T c.*827C>T (n.*827C>T) n.401C>T c.264C>T (p.Arg88=) | |
15 | g.101646768G>C | CA492691487 | TM2D3 | c.459C>G (p.Arg153=) c.381C>G (p.Arg127=) c.290C>G c.760C>G n.480C>G c.*827C>G (n.*827C>G) n.401C>G c.264C>G (p.Arg88=) | |
15 | g.101646768G>T | CA492691488 | TM2D3 | c.459C>A (p.Arg153=) c.381C>A (p.Arg127=) c.290C>A c.760C>A n.480C>A c.*827C>A (n.*827C>A) n.401C>A c.264C>A (p.Arg88=) | |
15 | g.101646769C>A | CA393979084 | TM2D3 | c.458G>T (p.Arg153Leu) c.380G>T (p.Arg127Leu) c.289G>T c.759G>T n.479G>T c.*826G>T (n.*826G>T) n.400G>T c.263G>T (p.Arg88Leu) | |
15 | g.101646769C= | CA2200628488 | TM2D3 | c.458G= (p.Arg153=) c.380G= (p.Arg127=) c.289G= c.759G= n.479G= c.*826G= (n.*826G=) n.400G= c.263G= (p.Arg88=) | |
15 | g.101646769C>G | CA393979082 | TM2D3 | c.458G>C (p.Arg153Pro) c.380G>C (p.Arg127Pro) c.289G>C c.759G>C n.479G>C c.*826G>C (n.*826G>C) n.400G>C c.263G>C (p.Arg88Pro) | |
15 | g.101646769C>T | CA7764590 | TM2D3 | c.458G>A (p.Arg153His) c.380G>A (p.Arg127His) c.289G>A c.759G>A n.479G>A c.*826G>A (n.*826G>A) n.400G>A c.263G>A (p.Arg88His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646770G>A | CA393979087 | TM2D3 | c.457C>T (p.Arg153Cys) c.379C>T (p.Arg127Cys) c.288C>T c.758C>T n.478C>T c.*825C>T (n.*825C>T) n.399C>T c.262C>T (p.Arg88Cys) | dbSNP gnomAD v4 |
15 | g.101646770G>C | CA393979090 | TM2D3 | c.457C>G (p.Arg153Gly) c.379C>G (p.Arg127Gly) c.288C>G c.758C>G n.478C>G c.*825C>G (n.*825C>G) n.399C>G c.262C>G (p.Arg88Gly) | gnomAD v4 |
15 | g.101646770G= | CA2200628489 | TM2D3 | c.457C= (p.Arg153=) c.379C= (p.Arg127=) c.288C= c.758C= n.478C= c.*825C= (n.*825C=) n.399C= c.262C= (p.Arg88=) | |
15 | g.101646770G>T | CA393979092 | TM2D3 | c.457C>A (p.Arg153Ser) c.379C>A (p.Arg127Ser) c.288C>A c.758C>A n.478C>A c.*825C>A (n.*825C>A) n.399C>A c.262C>A (p.Arg88Ser) | |
15 | g.101646771C>A | CA393979093 | TM2D3 | c.456G>T (p.Gln152His) c.378G>T (p.Gln126His) c.287G>T c.757G>T n.477G>T c.*824G>T (n.*824G>T) n.398G>T c.261G>T (p.Gln87His) | |
15 | g.101646771C>G | CA393979094 | TM2D3 | c.456G>C (p.Gln152His) c.378G>C (p.Gln126His) c.287G>C c.757G>C n.477G>C c.*824G>C (n.*824G>C) n.398G>C c.261G>C (p.Gln87His) | gnomAD v4 |
15 | g.101646771C>T | CA492691493 | TM2D3 | c.456G>A (p.Gln152=) c.378G>A (p.Gln126=) c.287G>A c.757G>A n.477G>A c.*824G>A (n.*824G>A) n.398G>A c.261G>A (p.Gln87=) | |
15 | g.101646772T>A | CA393979095 | TM2D3 | c.455A>T (p.Gln152Leu) c.377A>T (p.Gln126Leu) c.286A>T c.756A>T n.476A>T c.*823A>T (n.*823A>T) n.397A>T c.260A>T (p.Gln87Leu) | |
15 | g.101646772T>C | CA276363011 | TM2D3 | c.455A>G (p.Gln152Arg) c.377A>G (p.Gln126Arg) c.286A>G c.756A>G n.476A>G c.*823A>G (n.*823A>G) n.397A>G c.260A>G (p.Gln87Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646772T>G | CA393979096 | TM2D3 | c.455A>C (p.Gln152Pro) c.377A>C (p.Gln126Pro) c.286A>C c.756A>C n.476A>C c.*823A>C (n.*823A>C) n.397A>C c.260A>C (p.Gln87Pro) | |
15 | g.101646772T= | CA2200628490 | TM2D3 | c.455A= (p.Gln152=) c.377A= (p.Gln126=) c.286A= c.756A= n.476A= c.*823A= (n.*823A=) n.397A= c.260A= (p.Gln87=) | |
15 | g.101646773G>A | CA393979097 | TM2D3 | c.454C>T (p.Gln152Ter) c.376C>T (p.Gln126Ter) c.285C>T c.755C>T n.475C>T c.*822C>T (n.*822C>T) n.396C>T c.259C>T (p.Gln87Ter) | |
15 | g.101646773G>C | CA393979098 | TM2D3 | c.454C>G (p.Gln152Glu) c.376C>G (p.Gln126Glu) c.285C>G c.755C>G n.475C>G c.*822C>G (n.*822C>G) n.396C>G c.259C>G (p.Gln87Glu) | |
15 | g.101646773G>T | CA393979100 | TM2D3 | c.454C>A (p.Gln152Lys) c.376C>A (p.Gln126Lys) c.285C>A c.755C>A n.475C>A c.*822C>A (n.*822C>A) n.396C>A c.259C>A (p.Gln87Lys) | |
15 | g.101646774C>A | CA492691499 | TM2D3 | c.453G>T (p.Arg151=) c.375G>T (p.Arg125=) c.284G>T c.754G>T n.474G>T c.*821G>T (n.*821G>T) n.395G>T c.258G>T (p.Arg86=) | |
15 | g.101646774C= | CA2200628491 | TM2D3 | c.453G= (p.Arg151=) c.375G= (p.Arg125=) c.284G= c.754G= n.474G= c.*821G= (n.*821G=) n.395G= c.258G= (p.Arg86=) | |
15 | g.101646774C>G | CA492691497 | TM2D3 | c.453G>C (p.Arg151=) c.375G>C (p.Arg125=) c.284G>C c.754G>C n.474G>C c.*821G>C (n.*821G>C) n.395G>C c.258G>C (p.Arg86=) | |
15 | g.101646774C>T | CA276363017 | TM2D3 | c.453G>A (p.Arg151=) c.375G>A (p.Arg125=) c.284G>A c.754G>A n.474G>A c.*821G>A (n.*821G>A) n.395G>A c.258G>A (p.Arg86=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646775C>A | CA393979102 | TM2D3 | c.452G>T (p.Arg151Leu) c.374G>T (p.Arg125Leu) c.283G>T c.753G>T n.473G>T c.*820G>T (n.*820G>T) n.394G>T c.257G>T (p.Arg86Leu) | |
15 | g.101646775C= | CA2200628492 | TM2D3 | c.452G= (p.Arg151=) c.374G= (p.Arg125=) c.283G= c.753G= n.473G= c.*820G= (n.*820G=) n.394G= c.257G= (p.Arg86=) | |
15 | g.101646775C>G | CA393979104 | TM2D3 | c.452G>C (p.Arg151Pro) c.374G>C (p.Arg125Pro) c.283G>C c.753G>C n.473G>C c.*820G>C (n.*820G>C) n.394G>C c.257G>C (p.Arg86Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646775C>T | CA276363025 | TM2D3 | c.452G>A (p.Arg151Gln) c.374G>A (p.Arg125Gln) c.283G>A c.753G>A n.473G>A c.*820G>A (n.*820G>A) n.394G>A c.257G>A (p.Arg86Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646776G>A | CA7764591 | TM2D3 | c.451C>T (p.Arg151Trp) c.373C>T (p.Arg125Trp) c.282C>T c.752C>T n.472C>T c.*819C>T (n.*819C>T) n.393C>T c.256C>T (p.Arg86Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646776G>C | CA393979106 | TM2D3 | c.451C>G (p.Arg151Gly) c.373C>G (p.Arg125Gly) c.282C>G c.752C>G n.472C>G c.*819C>G (n.*819C>G) n.393C>G c.256C>G (p.Arg86Gly) | |
15 | g.101646776G= | CA2200628493 | TM2D3 | c.451C= (p.Arg151=) c.373C= (p.Arg125=) c.282C= c.752C= n.472C= c.*819C= (n.*819C=) n.393C= c.256C= (p.Arg86=) | |
15 | g.101646776G>T | CA492691504 | TM2D3 | c.451C>A (p.Arg151=) c.373C>A (p.Arg125=) c.282C>A c.752C>A n.472C>A c.*819C>A (n.*819C>A) n.393C>A c.256C>A (p.Arg86=) | |
15 | g.101646777A>C | CA492691505 | TM2D3 | c.450T>G (p.Pro150=) c.372T>G (p.Pro124=) c.281T>G c.751T>G n.471T>G c.*818T>G (n.*818T>G) n.392T>G c.255T>G (p.Pro85=) | |
15 | g.101646777A>G | CA492691506 | TM2D3 | c.450T>C (p.Pro150=) c.372T>C (p.Pro124=) c.281T>C c.751T>C n.471T>C c.*818T>C (n.*818T>C) n.392T>C c.255T>C (p.Pro85=) | |
15 | g.101646777A>T | CA492691508 | TM2D3 | c.450T>A (p.Pro150=) c.372T>A (p.Pro124=) c.281T>A c.751T>A n.471T>A c.*818T>A (n.*818T>A) n.392T>A c.255T>A (p.Pro85=) | |
15 | g.101646778G>A | CA7764592 | TM2D3 | c.449C>T (p.Pro150Leu) c.371C>T (p.Pro124Leu) c.280C>T c.750C>T n.470C>T c.*817C>T (n.*817C>T) n.391C>T c.254C>T (p.Pro85Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646778G>C | CA7764593 | TM2D3 | c.449C>G (p.Pro150Arg) c.371C>G (p.Pro124Arg) c.280C>G c.750C>G n.470C>G c.*817C>G (n.*817C>G) n.391C>G c.254C>G (p.Pro85Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646778G= | CA2200628494 | TM2D3 | c.449C= (p.Pro150=) c.371C= (p.Pro124=) c.280C= c.750C= n.470C= c.*817C= (n.*817C=) n.391C= c.254C= (p.Pro85=) | |
15 | g.101646778G>T | CA393979110 | TM2D3 | c.449C>A (p.Pro150His) c.371C>A (p.Pro124His) c.280C>A c.750C>A n.470C>A c.*817C>A (n.*817C>A) n.391C>A c.254C>A (p.Pro85His) | |
15 | g.101646779G>A | CA393979111 | TM2D3 | c.448C>T (p.Pro150Ser) c.370C>T (p.Pro124Ser) c.279C>T c.749C>T n.469C>T c.*816C>T (n.*816C>T) n.390C>T c.253C>T (p.Pro85Ser) | |
15 | g.101646779G>C | CA7764594 | TM2D3 | c.448C>G (p.Pro150Ala) c.370C>G (p.Pro124Ala) c.279C>G c.749C>G n.469C>G c.*816C>G (n.*816C>G) n.390C>G c.253C>G (p.Pro85Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646779G= | CA2200628495 | TM2D3 | c.448C= (p.Pro150=) c.370C= (p.Pro124=) c.279C= c.749C= n.469C= c.*816C= (n.*816C=) n.390C= c.253C= (p.Pro85=) | |
15 | g.101646779G>T | CA393979114 | TM2D3 | c.448C>A (p.Pro150Thr) c.370C>A (p.Pro124Thr) c.279C>A c.749C>A n.469C>A c.*816C>A (n.*816C>A) n.390C>A c.253C>A (p.Pro85Thr) | |
15 | g.101646780A= | CA2200628496 | TM2D3 | c.447T= (p.Cys149=) c.369T= (p.Cys123=) c.278T= c.748T= n.468T= c.*815T= (n.*815T=) n.389T= c.252T= (p.Cys84=) | |
15 | g.101646780A>C | CA393979117 | TM2D3 | c.447T>G (p.Cys149Trp) c.369T>G (p.Cys123Trp) c.278T>G c.748T>G n.468T>G c.*815T>G (n.*815T>G) n.389T>G c.252T>G (p.Cys84Trp) | |
15 | g.101646780A>G | CA492691515 | TM2D3 | c.447T>C (p.Cys149=) c.369T>C (p.Cys123=) c.278T>C c.748T>C n.468T>C c.*815T>C (n.*815T>C) n.389T>C c.252T>C (p.Cys84=) | |
15 | g.101646780A>T | CA276363074 | TM2D3 | c.447T>A (p.Cys149Ter) c.369T>A (p.Cys123Ter) c.278T>A c.748T>A n.468T>A c.*815T>A (n.*815T>A) n.389T>A c.252T>A (p.Cys84Ter) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646781C>A | CA393979121 | TM2D3 | c.446G>T (p.Cys149Phe) c.368G>T (p.Cys123Phe) c.277G>T c.747G>T n.467G>T c.*814G>T (n.*814G>T) n.388G>T c.251G>T (p.Cys84Phe) | |
15 | g.101646781C>G | CA393979123 | TM2D3 | c.446G>C (p.Cys149Ser) c.368G>C (p.Cys123Ser) c.277G>C c.747G>C n.467G>C c.*814G>C (n.*814G>C) n.388G>C c.251G>C (p.Cys84Ser) | |
15 | g.101646781C>T | CA393979126 | TM2D3 | c.446G>A (p.Cys149Tyr) c.368G>A (p.Cys123Tyr) c.277G>A c.747G>A n.467G>A c.*814G>A (n.*814G>A) n.388G>A c.251G>A (p.Cys84Tyr) | |
15 | g.101646782A= | CA2200628497 | TM2D3 | c.445T= (p.Cys149=) c.367T= (p.Cys123=) c.276T= c.746T= n.466T= c.*813T= (n.*813T=) n.387T= c.250T= (p.Cys84=) | |
15 | g.101646782A>C | CA393979129 | TM2D3 | c.445T>G (p.Cys149Gly) c.367T>G (p.Cys123Gly) c.276T>G c.746T>G n.466T>G c.*813T>G (n.*813T>G) n.387T>G c.250T>G (p.Cys84Gly) | |
15 | g.101646782A>G | CA393979131 | TM2D3 | c.445T>C (p.Cys149Arg) c.367T>C (p.Cys123Arg) c.276T>C c.746T>C n.466T>C c.*813T>C (n.*813T>C) n.387T>C c.250T>C (p.Cys84Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646782A>T | CA393979134 | TM2D3 | c.445T>A (p.Cys149Ser) c.367T>A (p.Cys123Ser) c.276T>A c.746T>A n.466T>A c.*813T>A (n.*813T>A) n.387T>A c.250T>A (p.Cys84Ser) | |
15 | g.101646783G>A | CA492691519 | TM2D3 | c.444C>T (p.Ser148=) c.366C>T (p.Ser122=) c.275C>T c.745C>T n.465C>T c.*812C>T (n.*812C>T) n.386C>T c.249C>T (p.Ser83=) | dbSNP COSMIC |
15 | g.101646783G>C | CA492691520 | TM2D3 | c.444C>G (p.Ser148=) c.366C>G (p.Ser122=) c.275C>G c.745C>G n.465C>G c.*812C>G (n.*812C>G) n.386C>G c.249C>G (p.Ser83=) | |
15 | g.101646783G= | CA2200628498 | TM2D3 | c.444C= (p.Ser148=) c.366C= (p.Ser122=) c.275C= c.745C= n.465C= c.*812C= (n.*812C=) n.386C= c.249C= (p.Ser83=) | |
15 | g.101646783G>T | CA492691521 | TM2D3 | c.444C>A (p.Ser148=) c.366C>A (p.Ser122=) c.275C>A c.745C>A n.465C>A c.*812C>A (n.*812C>A) n.386C>A c.249C>A (p.Ser83=) | |
15 | g.101646784G>A | CA393979137 | TM2D3 | c.443C>T (p.Ser148Phe) c.365C>T (p.Ser122Phe) c.274C>T c.744C>T n.464C>T c.*811C>T (n.*811C>T) n.385C>T c.248C>T (p.Ser83Phe) | |
15 | g.101646784G>C | CA393979139 | TM2D3 | c.443C>G (p.Ser148Cys) c.365C>G (p.Ser122Cys) c.274C>G c.744C>G n.464C>G c.*811C>G (n.*811C>G) n.385C>G c.248C>G (p.Ser83Cys) | gnomAD v4 |
15 | g.101646784G>T | CA393979140 | TM2D3 | c.443C>A (p.Ser148Tyr) c.365C>A (p.Ser122Tyr) c.274C>A c.744C>A n.464C>A c.*811C>A (n.*811C>A) n.385C>A c.248C>A (p.Ser83Tyr) | |
15 | g.101646785A>C | CA393979148 | TM2D3 | c.442T>G (p.Ser148Ala) c.364T>G (p.Ser122Ala) c.273T>G c.743T>G n.463T>G c.*810T>G (n.*810T>G) n.384T>G c.247T>G (p.Ser83Ala) | |
15 | g.101646785A>G | CA393979145 | TM2D3 | c.442T>C (p.Ser148Pro) c.364T>C (p.Ser122Pro) c.273T>C c.743T>C n.463T>C c.*810T>C (n.*810T>C) n.384T>C c.247T>C (p.Ser83Pro) | |
15 | g.101646785A>T | CA393979143 | TM2D3 | c.442T>A (p.Ser148Thr) c.364T>A (p.Ser122Thr) c.273T>A c.743T>A n.463T>A c.*810T>A (n.*810T>A) n.384T>A c.247T>A (p.Ser83Thr) | |
15 | g.101646786C>A | CA492691526 | TM2D3 | c.441G>T (p.Val147=) c.363G>T (p.Val121=) c.272G>T c.742G>T n.462G>T c.*809G>T (n.*809G>T) n.383G>T c.246G>T (p.Val82=) | |
15 | g.101646786C= | CA2200628499 | TM2D3 | c.441G= (p.Val147=) c.363G= (p.Val121=) c.272G= c.742G= n.462G= c.*809G= (n.*809G=) n.383G= c.246G= (p.Val82=) | |
15 | g.101646786C>G | CA492691528 | TM2D3 | c.441G>C (p.Val147=) c.363G>C (p.Val121=) c.272G>C c.742G>C n.462G>C c.*809G>C (n.*809G>C) n.383G>C c.246G>C (p.Val82=) | |
15 | g.101646786C>T | CA492691529 | TM2D3 | c.441G>A (p.Val147=) c.363G>A (p.Val121=) c.272G>A c.742G>A n.462G>A c.*809G>A (n.*809G>A) n.383G>A c.246G>A (p.Val82=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.101646787A>C | CA393979150 | TM2D3 | c.440T>G (p.Val147Gly) c.362T>G (p.Val121Gly) c.271T>G c.741T>G n.461T>G c.*808T>G (n.*808T>G) n.382T>G c.245T>G (p.Val82Gly) | |
15 | g.101646787A>G | CA393979154 | TM2D3 | c.440T>C (p.Val147Ala) c.362T>C (p.Val121Ala) c.271T>C c.741T>C n.461T>C c.*808T>C (n.*808T>C) n.382T>C c.245T>C (p.Val82Ala) | gnomAD v4 |
15 | g.101646787A>T | CA393979155 | TM2D3 | c.440T>A (p.Val147Glu) c.362T>A (p.Val121Glu) c.271T>A c.741T>A n.461T>A c.*808T>A (n.*808T>A) n.382T>A c.245T>A (p.Val82Glu) | |
15 | g.101646788C>A | CA393979158 | TM2D3 | c.439G>T (p.Val147Leu) c.361G>T (p.Val121Leu) c.270G>T c.740G>T n.460G>T c.*807G>T (n.*807G>T) n.381G>T c.244G>T (p.Val82Leu) | |
15 | g.101646788C>G | CA393979161 | TM2D3 | c.439G>C (p.Val147Leu) c.361G>C (p.Val121Leu) c.270G>C c.740G>C n.460G>C c.*807G>C (n.*807G>C) n.381G>C c.244G>C (p.Val82Leu) | |
15 | g.101646788C>T | CA393979164 | TM2D3 | c.439G>A (p.Val147Met) c.361G>A (p.Val121Met) c.270G>A c.740G>A n.460G>A c.*807G>A (n.*807G>A) n.381G>A c.244G>A (p.Val82Met) | |
15 | g.101646789C>A | CA492691532 | TM2D3 | c.438G>T (p.Thr146=) c.360G>T (p.Thr120=) c.269G>T c.739G>T n.459G>T c.*806G>T (n.*806G>T) n.380G>T c.243G>T (p.Thr81=) | gnomAD v4 |
15 | g.101646789C= | CA2200628500 | TM2D3 | c.438G= (p.Thr146=) c.360G= (p.Thr120=) c.269G= c.739G= n.459G= c.*806G= (n.*806G=) n.380G= c.243G= (p.Thr81=) | |
15 | g.101646789C>G | CA492691534 | TM2D3 | c.438G>C (p.Thr146=) c.360G>C (p.Thr120=) c.269G>C c.739G>C n.459G>C c.*806G>C (n.*806G>C) n.380G>C c.243G>C (p.Thr81=) | |
15 | g.101646789C>T | CA7764595 | TM2D3 | c.438G>A (p.Thr146=) c.360G>A (p.Thr120=) c.269G>A c.739G>A n.459G>A c.*806G>A (n.*806G>A) n.380G>A c.243G>A (p.Thr81=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646790G>A | CA7764596 | TM2D3 | c.437C>T (p.Thr146Met) c.359C>T (p.Thr120Met) c.268C>T c.738C>T n.458C>T c.*805C>T (n.*805C>T) n.379C>T c.242C>T (p.Thr81Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646790G>C | CA393979169 | TM2D3 | c.437C>G (p.Thr146Arg) c.359C>G (p.Thr120Arg) c.268C>G c.738C>G n.458C>G c.*805C>G (n.*805C>G) n.379C>G c.242C>G (p.Thr81Arg) | |
15 | g.101646790G= | CA2200628501 | TM2D3 | c.437C= (p.Thr146=) c.359C= (p.Thr120=) c.268C= c.738C= n.458C= c.*805C= (n.*805C=) n.379C= c.242C= (p.Thr81=) | |
15 | g.101646790G>T | CA393979171 | TM2D3 | c.437C>A (p.Thr146Lys) c.359C>A (p.Thr120Lys) c.268C>A c.738C>A n.458C>A c.*805C>A (n.*805C>A) n.379C>A c.242C>A (p.Thr81Lys) | gnomAD v4 |
15 | g.101646791T>A | CA393979173 | TM2D3 | c.436A>T (p.Thr146Ser) c.358A>T (p.Thr120Ser) c.267A>T c.737A>T n.457A>T c.*804A>T (n.*804A>T) n.378A>T c.241A>T (p.Thr81Ser) | |
15 | g.101646791T>C | CA393979176 | TM2D3 | c.436A>G (p.Thr146Ala) c.358A>G (p.Thr120Ala) c.267A>G c.737A>G n.457A>G c.*804A>G (n.*804A>G) n.378A>G c.241A>G (p.Thr81Ala) | |
15 | g.101646791T>G | CA393979179 | TM2D3 | c.436A>C (p.Thr146Pro) c.358A>C (p.Thr120Pro) c.267A>C c.737A>C n.457A>C c.*804A>C (n.*804A>C) n.378A>C c.241A>C (p.Thr81Pro) | |
15 | g.101646792C>A | CA393979182 | TM2D3 | c.435G>T (p.Met145Ile) c.357G>T (p.Met119Ile) c.266G>T c.736G>T n.456G>T c.*803G>T (n.*803G>T) n.377G>T c.240G>T (p.Met80Ile) | |
15 | g.101646792C>G | CA393979185 | TM2D3 | c.435G>C (p.Met145Ile) c.357G>C (p.Met119Ile) c.266G>C c.736G>C n.456G>C c.*803G>C (n.*803G>C) n.377G>C c.240G>C (p.Met80Ile) | gnomAD v4 |
15 | g.101646792C>T | CA393979181 | TM2D3 | c.435G>A (p.Met145Ile) c.357G>A (p.Met119Ile) c.266G>A c.736G>A n.456G>A c.*803G>A (n.*803G>A) n.377G>A c.240G>A (p.Met80Ile) | |
15 | g.101646793A= | CA2200628502 | TM2D3 | c.434T= (p.Met145=) c.356T= (p.Met119=) c.265T= c.735T= n.455T= c.*802T= (n.*802T=) n.376T= c.239T= (p.Met80=) | |
15 | g.101646793A>C | CA393979189 | TM2D3 | c.434T>G (p.Met145Arg) c.356T>G (p.Met119Arg) c.265T>G c.735T>G n.455T>G c.*802T>G (n.*802T>G) n.376T>G c.239T>G (p.Met80Arg) | |
15 | g.101646793A>G | CA276363082 | TM2D3 | c.434T>C (p.Met145Thr) c.356T>C (p.Met119Thr) c.265T>C c.735T>C n.455T>C c.*802T>C (n.*802T>C) n.376T>C c.239T>C (p.Met80Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646793A>T | CA393979187 | TM2D3 | c.434T>A (p.Met145Lys) c.356T>A (p.Met119Lys) c.265T>A c.735T>A n.455T>A c.*802T>A (n.*802T>A) n.376T>A c.239T>A (p.Met80Lys) | |
15 | g.101646794T>A | CA393979192 | TM2D3 | c.433A>T (p.Met145Leu) c.355A>T (p.Met119Leu) c.264A>T c.734A>T n.454A>T c.*801A>T (n.*801A>T) n.375A>T c.238A>T (p.Met80Leu) | |
15 | g.101646794T>C | CA393979195 | TM2D3 | c.433A>G (p.Met145Val) c.355A>G (p.Met119Val) c.264A>G c.734A>G n.454A>G c.*801A>G (n.*801A>G) n.375A>G c.238A>G (p.Met80Val) | gnomAD v4 |
15 | g.101646794T>G | CA393979198 | TM2D3 | c.433A>C (p.Met145Leu) c.355A>C (p.Met119Leu) c.264A>C c.734A>C n.454A>C c.*801A>C (n.*801A>C) n.375A>C c.238A>C (p.Met80Leu) | |
15 | g.101646795G>A | CA492691545 | TM2D3 | c.432C>T (p.Cys144=) c.354C>T (p.Cys118=) c.263C>T c.733C>T n.453C>T c.*800C>T (n.*800C>T) n.374C>T c.237C>T (p.Cys79=) | |
15 | g.101646795G>C | CA393979201 | TM2D3 | c.432C>G (p.Cys144Trp) c.354C>G (p.Cys118Trp) c.263C>G c.733C>G n.453C>G c.*800C>G (n.*800C>G) n.374C>G c.237C>G (p.Cys79Trp) | |
15 | g.101646795G>T | CA393979204 | TM2D3 | c.432C>A (p.Cys144Ter) c.354C>A (p.Cys118Ter) c.263C>A c.733C>A n.453C>A c.*800C>A (n.*800C>A) n.374C>A c.237C>A (p.Cys79Ter) | |
15 | g.101646796C>A | CA393979206 | TM2D3 | c.431G>T (p.Cys144Phe) c.353G>T (p.Cys118Phe) c.262G>T c.732G>T n.452G>T c.*799G>T (n.*799G>T) n.373G>T c.236G>T (p.Cys79Phe) | |
15 | g.101646796C>G | CA393979208 | TM2D3 | c.431G>C (p.Cys144Ser) c.353G>C (p.Cys118Ser) c.262G>C c.732G>C n.452G>C c.*799G>C (n.*799G>C) n.373G>C c.236G>C (p.Cys79Ser) | |
15 | g.101646796C>T | CA393979209 | TM2D3 | c.431G>A (p.Cys144Tyr) c.353G>A (p.Cys118Tyr) c.262G>A c.732G>A n.452G>A c.*799G>A (n.*799G>A) n.373G>A c.236G>A (p.Cys79Tyr) | |
15 | g.101646797A>C | CA393979212 | TM2D3 | c.430T>G (p.Cys144Gly) c.352T>G (p.Cys118Gly) c.261T>G c.731T>G n.451T>G c.*798T>G (n.*798T>G) n.372T>G c.235T>G (p.Cys79Gly) | |
15 | g.101646797A>G | CA393979214 | TM2D3 | c.430T>C (p.Cys144Arg) c.352T>C (p.Cys118Arg) c.261T>C c.731T>C n.451T>C c.*798T>C (n.*798T>C) n.372T>C c.235T>C (p.Cys79Arg) | |
15 | g.101646797A>T | CA393979216 | TM2D3 | c.430T>A (p.Cys144Ser) c.352T>A (p.Cys118Ser) c.261T>A c.731T>A n.451T>A c.*798T>A (n.*798T>A) n.372T>A c.235T>A (p.Cys79Ser) | |
15 | g.101646798G>A | CA7764597 | TM2D3 | c.429C>T (p.Ser143=) c.351C>T (p.Ser117=) c.260C>T c.730C>T n.450C>T c.*797C>T (n.*797C>T) n.371C>T c.234C>T (p.Ser78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646798G>C | CA393979219 | TM2D3 | c.429C>G (p.Ser143Arg) c.351C>G (p.Ser117Arg) c.260C>G c.730C>G n.450C>G c.*797C>G (n.*797C>G) n.371C>G c.234C>G (p.Ser78Arg) | |
15 | g.101646798G= | CA2200628503 | TM2D3 | c.429C= (p.Ser143=) c.351C= (p.Ser117=) c.260C= c.730C= n.450C= c.*797C= (n.*797C=) n.371C= c.234C= (p.Ser78=) | |
15 | g.101646798G>T | CA7764598 | TM2D3 | c.429C>A (p.Ser143Arg) c.351C>A (p.Ser117Arg) c.260C>A c.730C>A n.450C>A c.*797C>A (n.*797C>A) n.371C>A c.234C>A (p.Ser78Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.101646799C>A | CA393979224 | TM2D3 | c.428G>T (p.Ser143Ile) c.350G>T (p.Ser117Ile) c.259G>T c.729G>T n.449G>T c.*796G>T (n.*796G>T) n.370G>T c.233G>T (p.Ser78Ile) | |
15 | g.101646799C>G | CA393979226 | TM2D3 | c.428G>C (p.Ser143Thr) c.350G>C (p.Ser117Thr) c.259G>C c.729G>C n.449G>C c.*796G>C (n.*796G>C) n.370G>C c.233G>C (p.Ser78Thr) | |
15 | g.101646799C>T | CA393979228 | TM2D3 | c.428G>A (p.Ser143Asn) c.350G>A (p.Ser117Asn) c.259G>A c.729G>A n.449G>A c.*796G>A (n.*796G>A) n.370G>A c.233G>A (p.Ser78Asn) | gnomAD v4 |
15 | g.101646800T>A | CA393979235 | TM2D3 | c.427A>T (p.Ser143Cys) c.349A>T (p.Ser117Cys) c.258A>T c.728A>T n.448A>T c.*795A>T (n.*795A>T) n.369A>T c.232A>T (p.Ser78Cys) | |
15 | g.101646800T>C | CA393979238 | TM2D3 | c.427A>G (p.Ser143Gly) c.349A>G (p.Ser117Gly) c.258A>G c.728A>G n.448A>G c.*795A>G (n.*795A>G) n.369A>G c.232A>G (p.Ser78Gly) | |
15 | g.101646800T>G | CA393979240 | TM2D3 | c.427A>C (p.Ser143Arg) c.349A>C (p.Ser117Arg) c.258A>C c.728A>C n.448A>C c.*795A>C (n.*795A>C) n.369A>C c.232A>C (p.Ser78Arg) | |
15 | g.101646801G>A | CA492691555 | TM2D3 | c.426C>T (p.Thr142=) c.348C>T (p.Thr116=) c.257C>T c.727C>T n.447C>T c.*794C>T (n.*794C>T) n.368C>T c.231C>T (p.Thr77=) | |
15 | g.101646801G>C | CA492691557 | TM2D3 | c.426C>G (p.Thr142=) c.348C>G (p.Thr116=) c.257C>G c.727C>G n.447C>G c.*794C>G (n.*794C>G) n.368C>G c.231C>G (p.Thr77=) | |
15 | g.101646801G>T | CA492691559 | TM2D3 | c.426C>A (p.Thr142=) c.348C>A (p.Thr116=) c.257C>A c.727C>A n.447C>A c.*794C>A (n.*794C>A) n.368C>A c.231C>A (p.Thr77=) | |
15 | g.101646802G>A | CA393979244 | TM2D3 | c.425C>T (p.Thr142Ile) c.347C>T (p.Thr116Ile) c.256C>T c.726C>T n.446C>T c.*793C>T (n.*793C>T) n.367C>T c.230C>T (p.Thr77Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.101646802G>C | CA393979245 | TM2D3 | c.425C>G (p.Thr142Ser) c.347C>G (p.Thr116Ser) c.256C>G c.726C>G n.446C>G c.*793C>G (n.*793C>G) n.367C>G c.230C>G (p.Thr77Ser) | |
15 | g.101646802G= | CA2200628504 | TM2D3 | c.425C= (p.Thr142=) c.347C= (p.Thr116=) c.256C= c.726C= n.446C= c.*793C= (n.*793C=) n.367C= c.230C= (p.Thr77=) | |
15 | g.101646802G>T | CA393979248 | TM2D3 | c.425C>A (p.Thr142Asn) c.347C>A (p.Thr116Asn) c.256C>A c.726C>A n.446C>A c.*793C>A (n.*793C>A) n.367C>A c.230C>A (p.Thr77Asn) | |
15 | g.101646804_101646820del | CA2630689652 | TM2D3 | c.409_425del (p.Glu137GlnfsTer27) c.331_347del (p.Glu111GlnfsTer27) c.240_256del c.710_726del n.430_446del c.*777_*793del (n.*777_*793del) n.351_367del c.214_230del (p.Glu72GlnfsTer27) | gnomAD v4 |
15 | g.101646803T>A | CA393979250 | TM2D3 | c.424A>T (p.Thr142Ser) c.346A>T (p.Thr116Ser) c.255A>T c.725A>T n.445A>T c.*792A>T (n.*792A>T) n.366A>T c.229A>T (p.Thr77Ser) | |
15 | g.101646803T>C | CA393979252 | TM2D3 | c.424A>G (p.Thr142Ala) c.346A>G (p.Thr116Ala) c.255A>G c.725A>G n.445A>G c.*792A>G (n.*792A>G) n.366A>G c.229A>G (p.Thr77Ala) | |
15 | g.101646803T>G | CA393979255 | TM2D3 | c.424A>C (p.Thr142Pro) c.346A>C (p.Thr116Pro) c.255A>C c.725A>C n.445A>C c.*792A>C (n.*792A>C) n.366A>C c.229A>C (p.Thr77Pro) | |
15 | g.101646804G>A | CA492691565 | TM2D3 | c.423C>T (p.Ser141=) c.345C>T (p.Ser115=) c.254C>T c.724C>T n.444C>T c.*791C>T (n.*791C>T) n.365C>T c.228C>T (p.Ser76=) | |
15 | g.101646804G>C | CA492691567 | TM2D3 | c.423C>G (p.Ser141=) c.345C>G (p.Ser115=) c.254C>G c.724C>G n.444C>G c.*791C>G (n.*791C>G) n.365C>G c.228C>G (p.Ser76=) | |
15 | g.101646804G>T | CA492691569 | TM2D3 | c.423C>A (p.Ser141=) c.345C>A (p.Ser115=) c.254C>A c.724C>A n.444C>A c.*791C>A (n.*791C>A) n.365C>A c.228C>A (p.Ser76=) | |
15 | g.101646805G>A | CA393979261 | TM2D3 | c.422C>T (p.Ser141Phe) c.344C>T (p.Ser115Phe) c.253C>T c.723C>T n.443C>T c.*790C>T (n.*790C>T) n.364C>T c.227C>T (p.Ser76Phe) | |
15 | g.101646805G>C | CA7764599 | TM2D3 | c.422C>G (p.Ser141Cys) c.344C>G (p.Ser115Cys) c.253C>G c.723C>G n.443C>G c.*790C>G (n.*790C>G) n.364C>G c.227C>G (p.Ser76Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.101646805G= | CA2200628505 | TM2D3 | c.422C= (p.Ser141=) c.344C= (p.Ser115=) c.253C= c.723C= n.443C= c.*790C= (n.*790C=) n.364C= c.227C= (p.Ser76=) | |
15 | g.101646805G>T | CA393979259 | TM2D3 | c.422C>A (p.Ser141Tyr) c.344C>A (p.Ser115Tyr) c.253C>A c.723C>A n.443C>A c.*790C>A (n.*790C>A) n.364C>A c.227C>A (p.Ser76Tyr) | |
15 | g.101646806A>C | CA393979265 | TM2D3 | c.421T>G (p.Ser141Ala) c.343T>G (p.Ser115Ala) c.252T>G c.722T>G n.442T>G c.*789T>G (n.*789T>G) n.363T>G c.226T>G (p.Ser76Ala) | |
15 | g.101646806A>G | CA393979268 | TM2D3 | c.421T>C (p.Ser141Pro) c.343T>C (p.Ser115Pro) c.252T>C c.722T>C n.442T>C c.*789T>C (n.*789T>C) n.363T>C c.226T>C (p.Ser76Pro) | |
15 | g.101646806A>T | CA393979269 | TM2D3 | c.421T>A (p.Ser141Thr) c.343T>A (p.Ser115Thr) c.252T>A c.722T>A n.442T>A c.*789T>A (n.*789T>A) n.363T>A c.226T>A (p.Ser76Thr) | |
15 | g.101646807G>A | CA492691576 | TM2D3 | c.420C>T (p.Asn140=) c.342C>T (p.Asn114=) c.251C>T c.721C>T n.441C>T c.*788C>T (n.*788C>T) n.362C>T c.225C>T (p.Asn75=) | |
15 | g.101646807G>C | CA393979273 | TM2D3 | c.420C>G (p.Asn140Lys) c.342C>G (p.Asn114Lys) c.251C>G c.721C>G n.441C>G c.*788C>G (n.*788C>G) n.362C>G c.225C>G (p.Asn75Lys) | gnomAD v4 |
15 | g.101646807G>T | CA393979276 | TM2D3 | c.420C>A (p.Asn140Lys) c.342C>A (p.Asn114Lys) c.251C>A c.721C>A n.441C>A c.*788C>A (n.*788C>A) n.362C>A c.225C>A (p.Asn75Lys) | |
15 | g.101646808T>A | CA393979282 | TM2D3 | c.419A>T (p.Asn140Ile) c.341A>T (p.Asn114Ile) c.250A>T c.720A>T n.440A>T c.*787A>T (n.*787A>T) n.361A>T c.224A>T (p.Asn75Ile) | |
15 | g.101646808T>C | CA393979283 | TM2D3 | c.419A>G (p.Asn140Ser) c.341A>G (p.Asn114Ser) c.250A>G c.720A>G n.440A>G c.*787A>G (n.*787A>G) n.361A>G c.224A>G (p.Asn75Ser) | dbSNP gnomAD v2 |
15 | g.101646808T>G | CA393979288 | TM2D3 | c.419A>C (p.Asn140Thr) c.341A>C (p.Asn114Thr) c.250A>C c.720A>C n.440A>C c.*787A>C (n.*787A>C) n.361A>C c.224A>C (p.Asn75Thr) | gnomAD v4 |
15 | g.101646808T= | CA2200628506 | TM2D3 | c.419A= (p.Asn140=) c.341A= (p.Asn114=) c.250A= c.720A= n.440A= c.*787A= (n.*787A=) n.361A= c.224A= (p.Asn75=) | |
15 | g.101646809T>A | CA393979289 | TM2D3 | c.418A>T (p.Asn140Tyr) c.340A>T (p.Asn114Tyr) c.249A>T c.719A>T n.439A>T c.*786A>T (n.*786A>T) n.360A>T c.223A>T (p.Asn75Tyr) | |
15 | g.101646809T>C | CA393979293 | TM2D3 | c.418A>G (p.Asn140Asp) c.340A>G (p.Asn114Asp) c.249A>G c.719A>G n.439A>G c.*786A>G (n.*786A>G) n.360A>G c.223A>G (p.Asn75Asp) | gnomAD v4 |
15 | g.101646809T>G | CA393979295 | TM2D3 | c.418A>C (p.Asn140His) c.340A>C (p.Asn114His) c.249A>C c.719A>C n.439A>C c.*786A>C (n.*786A>C) n.360A>C c.223A>C (p.Asn75His) | gnomAD v4 |
15 | g.101646810G>A | CA492691583 | TM2D3 | c.417C>T (p.Thr139=) c.339C>T (p.Thr113=) c.248C>T c.718C>T n.438C>T c.*785C>T (n.*785C>T) n.359C>T c.222C>T (p.Thr74=) | |
15 | g.101646810G>C | CA492691585 | TM2D3 | c.417C>G (p.Thr139=) c.339C>G (p.Thr113=) c.248C>G c.718C>G n.438C>G c.*785C>G (n.*785C>G) n.359C>G c.222C>G (p.Thr74=) | |
15 | g.101646810G>T | CA492691586 | TM2D3 | c.417C>A (p.Thr139=) c.339C>A (p.Thr113=) c.248C>A c.718C>A n.438C>A c.*785C>A (n.*785C>A) n.359C>A c.222C>A (p.Thr74=) |