Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136056780C>A | CA446551890 | TGFBI | c.1663C>A (p.Arg555=) n.2180C>A c.1641C>A c.660C>A n.434C>A c.815C>A | |
5 | g.136056780C= | CA1584798370 | TGFBI | c.1663C= (p.Arg555=) n.2180C= c.1641C= c.660C= n.434C= c.815C= | |
5 | g.136056780C>G | CA361042065 | TGFBI | c.1663C>G (p.Arg555Gly) n.2180C>G c.1641C>G c.660C>G n.434C>G c.815C>G | gnomAD v4 |
5 | g.136056780C>T | CA119119 | TGFBI | c.1663C>T (p.Arg555Trp) n.2180C>T c.1641C>T c.660C>T n.434C>T c.815C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056781G>A | CA119120 | TGFBI | c.1664G>A (p.Arg555Gln) n.2181G>A c.1642G>A c.661G>A n.435G>A c.816G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.136056781G>C | CA361042067 | TGFBI | c.1664G>C (p.Arg555Pro) n.2181G>C c.1642G>C c.661G>C n.435G>C c.816G>C | |
5 | g.136056781G= | CA1584798376 | TGFBI | c.1664G= (p.Arg555=) n.2181G= c.1642G= c.661G= n.435G= c.816G= | |
5 | g.136056781G>T | CA361042066 | TGFBI | c.1664G>T (p.Arg555Leu) n.2181G>T c.1642G>T c.661G>T n.435G>T c.816G>T | |
5 | g.136056782G>A | CA446551891 | TGFBI | c.1665G>A (p.Arg555=) n.2182G>A c.1643G>A c.662G>A n.436G>A c.817G>A | COSMIC |
5 | g.136056782G>C | CA446551892 | TGFBI | c.1665G>C (p.Arg555=) n.2182G>C c.1643G>C c.662G>C n.436G>C c.817G>C | |
5 | g.136056782G>T | CA446551893 | TGFBI | c.1665G>T (p.Arg555=) n.2182G>T c.1643G>T c.662G>T n.436G>T c.817G>T | |
5 | g.136056783A= | CA1584798383 | TGFBI | c.1666A= (p.Ser556=) n.2183A= c.1644A= c.663A= n.437A= c.818A= | |
5 | g.136056783A>C | CA361042069 | TGFBI | c.1666A>C (p.Ser556Arg) n.2183A>C c.1644A>C c.663A>C n.437A>C c.818A>C | |
5 | g.136056783A>G | CA361042073 | TGFBI | c.1666A>G (p.Ser556Gly) n.2183A>G c.1644A>G c.663A>G n.437A>G c.818A>G | dbSNP gnomAD v2 |
5 | g.136056783A>T | CA361042071 | TGFBI | c.1666A>T (p.Ser556Cys) n.2183A>T c.1644A>T c.663A>T n.437A>T c.818A>T | |
5 | g.136056784G>A | CA361042075 | TGFBI | c.1667G>A (p.Ser556Asn) n.2184G>A c.1645G>A c.664G>A n.438G>A c.819G>A | |
5 | g.136056784G>C | CA361042085 | TGFBI | c.1667G>C (p.Ser556Thr) n.2184G>C c.1645G>C c.664G>C n.438G>C c.819G>C | |
5 | g.136056784G>T | CA361042077 | TGFBI | c.1667G>T (p.Ser556Ile) n.2184G>T c.1645G>T c.664G>T n.438G>T c.819G>T | |
5 | g.136056785C>A | CA3420479 | TGFBI | c.1668C>A (p.Ser556Arg) n.2185C>A c.1646C>A c.665C>A n.439C>A c.820C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056785C= | CA1584798386 | TGFBI | c.1668C= (p.Ser556=) n.2185C= c.1646C= c.665C= n.439C= c.820C= | |
5 | g.136056785C>G | CA361042089 | TGFBI | c.1668C>G (p.Ser556Arg) n.2185C>G c.1646C>G c.665C>G n.439C>G c.820C>G | gnomAD v4 |
5 | g.136056785C>T | CA446551894 | TGFBI | c.1668C>T (p.Ser556=) n.2185C>T c.1646C>T c.665C>T n.439C>T c.820C>T | gnomAD v4 |
5 | g.136056786A= | CA1584798391 | TGFBI | c.1669A= (p.Arg557=) n.2186A= c.1647A= c.666A= n.440A= c.821A= | |
5 | g.136056786A>C | CA446551895 | TGFBI | c.1669A>C (p.Arg557=) n.2186A>C c.1647A>C c.666A>C n.440A>C c.821A>C | ClinVar dbSNP gnomAD v4 |
5 | g.136056786A>G | CA361042093 | TGFBI | c.1669A>G (p.Arg557Gly) n.2186A>G c.1647A>G c.666A>G n.440A>G c.821A>G | |
5 | g.136056786A>T | CA361042095 | TGFBI | c.1669A>T (p.Arg557Ter) n.2186A>T c.1647A>T c.666A>T n.440A>T c.821A>T | |
5 | g.136056787G>A | CA361042096 | TGFBI | c.1670G>A (p.Arg557Lys) n.2187G>A c.1648G>A c.667G>A n.441G>A c.822G>A | gnomAD v4 |
5 | g.136056787G>C | CA361042100 | TGFBI | c.1670G>C (p.Arg557Thr) n.2187G>C c.1648G>C c.667G>C n.441G>C c.822G>C | |
5 | g.136056787G>T | CA361042097 | TGFBI | c.1670G>T (p.Arg557Ile) n.2187G>T c.1648G>T c.667G>T n.441G>T c.822G>T | |
5 | g.136056788A>C | CA361042102 | TGFBI | c.1671A>C (p.Arg557Ser) n.2188A>C c.1649A>C c.668A>C n.442A>C c.823A>C | gnomAD v4 |
5 | g.136056788A>G | CA446551896 | TGFBI | c.1671A>G (p.Arg557=) n.2188A>G c.1649A>G c.668A>G n.442A>G c.823A>G | |
5 | g.136056788A>T | CA361042107 | TGFBI | c.1671A>T (p.Arg557Ser) n.2188A>T c.1649A>T c.668A>T n.442A>T c.823A>T | |
5 | g.136056789C>A | CA361042109 | TGFBI | c.1672C>A (p.Leu558Ile) n.2189C>A c.1650C>A c.669C>A n.443C>A c.824C>A | |
5 | g.136056789C>G | CA361042112 | TGFBI | c.1672C>G (p.Leu558Val) n.2189C>G c.1650C>G c.669C>G n.443C>G c.824C>G | |
5 | g.136056789C>T | CA361042114 | TGFBI | c.1672C>T (p.Leu558Phe) n.2189C>T c.1650C>T c.669C>T n.443C>T c.824C>T | |
5 | g.136056790T>A | CA361042115 | TGFBI | c.1673T>A (p.Leu558His) n.2190T>A c.1651T>A c.670T>A n.444T>A c.825T>A | |
5 | g.136056790T>C | CA361042116 | TGFBI | c.1673T>C (p.Leu558Pro) n.2190T>C c.1651T>C c.670T>C n.444T>C c.825T>C | |
5 | g.136056790T>G | CA361042117 | TGFBI | c.1673T>G (p.Leu558Arg) n.2190T>G c.1651T>G c.670T>G n.444T>G c.825T>G | |
5 | g.136056791C>A | CA446551897 | TGFBI | c.1674C>A (p.Leu558=) n.2191C>A c.1652C>A c.671C>A n.445C>A c.826C>A | |
5 | g.136056791C>G | CA446551898 | TGFBI | c.1674C>G (p.Leu558=) n.2191C>G c.1652C>G c.671C>G n.445C>G c.826C>G | COSMIC COSMIC |
5 | g.136056791C>T | CA446551899 | TGFBI | c.1674C>T (p.Leu558=) n.2191C>T c.1652C>T c.671C>T n.445C>T c.826C>T | |
5 | g.136056792T>A | CA361042118 | TGFBI | c.1675T>A (p.Leu559Met) n.2192T>A c.1653T>A c.672T>A n.446T>A c.827T>A | |
5 | g.136056792T>C | CA446551900 | TGFBI | c.1675T>C (p.Leu559=) n.2192T>C c.1653T>C c.672T>C n.446T>C c.827T>C | gnomAD v4 |
5 | g.136056792T>G | CA361042122 | TGFBI | c.1675T>G (p.Leu559Val) n.2192T>G c.1653T>G c.672T>G n.446T>G c.827T>G | |
5 | g.136056793T>A | CA361042127 | TGFBI | c.1676T>A (p.Leu559Ter) n.2193T>A c.1654T>A c.673T>A n.447T>A c.828T>A | |
5 | g.136056793T>C | CA361042130 | TGFBI | c.1676T>C (p.Leu559Ser) n.2193T>C c.1654T>C c.673T>C n.447T>C c.828T>C | |
5 | g.136056793T>G | CA3420480 | TGFBI | c.1676T>G (p.Leu559Trp) n.2193T>G c.1654T>G c.673T>G n.447T>G c.828T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056793T= | CA1584798399 | TGFBI | c.1676T= (p.Leu559=) n.2193T= c.1654T= c.673T= n.447T= c.828T= | |
5 | g.136056794G>A | CA446551901 | TGFBI | c.1677G>A (p.Leu559=) n.2194G>A c.1655G>A c.674G>A n.448G>A c.829G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056794G>C | CA3420481 | TGFBI | c.1677G>C (p.Leu559Phe) n.2194G>C c.1655G>C c.674G>C n.448G>C c.829G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |