Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136056637G>A | CA128058965 | TGFBI | c.1548-28G>A (n.1548-28G>A) n.2065-28G>A c.1526-28G>A c.545-28G>A n.319-28G>A c.700-28G>A | dbSNP gnomAD v4 |
5 | g.136056637G= | CA1584798096 | TGFBI | c.1548-28G= (n.1548-28G=) n.2065-28G= c.1526-28G= c.545-28G= n.319-28G= c.700-28G= | |
5 | g.136056639G>A | CA2675398163 | TGFBI | c.1548-26G>A (n.1548-26G>A) n.2065-26G>A c.1526-26G>A c.545-26G>A n.319-26G>A c.700-26G>A | gnomAD v4 |
5 | g.136056640A= | CA1584798098 | TGFBI | c.1548-25A= (n.1548-25A=) n.2065-25A= c.1526-25A= c.545-25A= n.319-25A= c.700-25A= | |
5 | g.136056640A>C | CA2675398165 | TGFBI | c.1548-25A>C (n.1548-25A>C) n.2065-25A>C c.1526-25A>C c.545-25A>C n.319-25A>C c.700-25A>C | gnomAD v4 |
5 | g.136056640A>G | CA128058967 | TGFBI | c.1548-25A>G (n.1548-25A>G) n.2065-25A>G c.1526-25A>G c.545-25A>G n.319-25A>G c.700-25A>G | dbSNP gnomAD v4 |
5 | g.136056640A>T | CA563254364 | TGFBI | c.1548-25A>T (n.1548-25A>T) n.2065-25A>T c.1526-25A>T c.545-25A>T n.319-25A>T c.700-25A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056641C>A | CA3420450 | TGFBI | c.1548-24C>A (n.1548-24C>A) n.2065-24C>A c.1526-24C>A c.545-24C>A n.319-24C>A c.700-24C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056641C= | CA1584798103 | TGFBI | c.1548-24C= (n.1548-24C=) n.2065-24C= c.1526-24C= c.545-24C= n.319-24C= c.700-24C= | |
5 | g.136056641C>T | CA563254365 | TGFBI | c.1548-24C>T (n.1548-24C>T) n.2065-24C>T c.1526-24C>T c.545-24C>T n.319-24C>T c.700-24C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056642A= | CA1584798105 | TGFBI | c.1548-23A= (n.1548-23A=) n.2065-23A= c.1526-23A= c.545-23A= n.319-23A= c.700-23A= | |
5 | g.136056642A>G | CA3420451 | TGFBI | c.1548-23A>G (n.1548-23A>G) n.2065-23A>G c.1526-23A>G c.545-23A>G n.319-23A>G c.700-23A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056644T>C | CA563254366 | TGFBI | c.1548-21T>C (n.1548-21T>C) n.2065-21T>C c.1526-21T>C c.545-21T>C n.319-21T>C c.700-21T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056644T= | CA1584798122 | TGFBI | c.1548-21T= (n.1548-21T=) n.2065-21T= c.1526-21T= c.545-21T= n.319-21T= c.700-21T= | |
5 | g.136056646T>G | CA1584798124 | TGFBI | c.1548-19T>G (n.1548-19T>G) n.2065-19T>G c.1526-19T>G c.545-19T>G n.319-19T>G c.700-19T>G | dbSNP |
5 | g.136056646T= | CA1584798126 | TGFBI | c.1548-19T= (n.1548-19T=) n.2065-19T= c.1526-19T= c.545-19T= n.319-19T= c.700-19T= | |
5 | g.136056647C= | CA1584798128 | TGFBI | c.1548-18C= (n.1548-18C=) n.2065-18C= c.1526-18C= c.545-18C= n.319-18C= c.700-18C= | |
5 | g.136056647C>T | CA3420452 | TGFBI | c.1548-18C>T (n.1548-18C>T) n.2065-18C>T c.1526-18C>T c.545-18C>T n.319-18C>T c.700-18C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056655_136056656del | CA2675398175 | TGFBI | c.1548-10_1548-9del (n.1548-10_1548-9del) n.2065-10_2065-9del c.1526-10_1526-9del c.545-10_545-9del n.319-10_319-9del c.700-10_700-9del | gnomAD v4 |
5 | g.136056653_136056656del | CA2675398176 | TGFBI | c.1548-12_1548-9del (n.1548-12_1548-9del) n.2065-12_2065-9del c.1526-12_1526-9del c.545-12_545-9del n.319-12_319-9del c.700-12_700-9del | gnomAD v4 |
5 | g.136056649G>A | CA2675398179 | TGFBI | c.1548-16G>A (n.1548-16G>A) n.2065-16G>A c.1526-16G>A c.545-16G>A n.319-16G>A c.700-16G>A | gnomAD v4 |
5 | g.136056649G>C | CA1584798131 | TGFBI | c.1548-16G>C (n.1548-16G>C) n.2065-16G>C c.1526-16G>C c.545-16G>C n.319-16G>C c.700-16G>C | dbSNP gnomAD v4 |
5 | g.136056649G= | CA1584798130 | TGFBI | c.1548-16G= (n.1548-16G=) n.2065-16G= c.1526-16G= c.545-16G= n.319-16G= c.700-16G= | |
5 | g.136056650T>C | CA1584798133 | TGFBI | c.1548-15T>C (n.1548-15T>C) n.2065-15T>C c.1526-15T>C c.545-15T>C n.319-15T>C c.700-15T>C | dbSNP |
5 | g.136056650T= | CA1584798132 | TGFBI | c.1548-15T= (n.1548-15T=) n.2065-15T= c.1526-15T= c.545-15T= n.319-15T= c.700-15T= | |
5 | g.136056651G>A | CA3420453 | TGFBI | c.1548-14G>A (n.1548-14G>A) n.2065-14G>A c.1526-14G>A c.545-14G>A n.319-14G>A c.700-14G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056651G>C | CA2675398185 | TGFBI | c.1548-14G>C (n.1548-14G>C) n.2065-14G>C c.1526-14G>C c.545-14G>C n.319-14G>C c.700-14G>C | gnomAD v4 |
5 | g.136056651G= | CA1584798135 | TGFBI | c.1548-14G= (n.1548-14G=) n.2065-14G= c.1526-14G= c.545-14G= n.319-14G= c.700-14G= | |
5 | g.136056652T>C | CA3420454 | TGFBI | c.1548-13T>C (n.1548-13T>C) n.2065-13T>C c.1526-13T>C c.545-13T>C n.319-13T>C c.700-13T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056652T= | CA1584798137 | TGFBI | c.1548-13T= (n.1548-13T=) n.2065-13T= c.1526-13T= c.545-13T= n.319-13T= c.700-13T= | |
5 | g.136056653G>C | CA3420455 | TGFBI | c.1548-12G>C (n.1548-12G>C) n.2065-12G>C c.1526-12G>C c.545-12G>C n.319-12G>C c.700-12G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056653G= | CA1584798140 | TGFBI | c.1548-12G= (n.1548-12G=) n.2065-12G= c.1526-12G= c.545-12G= n.319-12G= c.700-12G= | |
5 | g.136056654T>C | CA563254367 | TGFBI | c.1548-11T>C (n.1548-11T>C) n.2065-11T>C c.1526-11T>C c.545-11T>C n.319-11T>C c.700-11T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056654T= | CA1584798142 | TGFBI | c.1548-11T= (n.1548-11T=) n.2065-11T= c.1526-11T= c.545-11T= n.319-11T= c.700-11T= | |
5 | g.136056656T>C | CA1584798145 | TGFBI | c.1548-9T>C (n.1548-9T>C) n.2065-9T>C c.1526-9T>C c.545-9T>C n.319-9T>C c.700-9T>C | dbSNP gnomAD v4 |
5 | g.136056656T= | CA1584798144 | TGFBI | c.1548-9T= (n.1548-9T=) n.2065-9T= c.1526-9T= c.545-9T= n.319-9T= c.700-9T= | |
5 | g.136056658T>C | CA3420456 | TGFBI | c.1548-7T>C (n.1548-7T>C) n.2065-7T>C c.1526-7T>C c.545-7T>C n.319-7T>C c.700-7T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056658T= | CA1584798147 | TGFBI | c.1548-7T= (n.1548-7T=) n.2065-7T= c.1526-7T= c.545-7T= n.319-7T= c.700-7T= | |
5 | g.136056659C>A | CA3420457 | TGFBI | c.1548-6C>A (n.1548-6C>A) n.2065-6C>A c.1526-6C>A c.545-6C>A n.319-6C>A c.700-6C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056659C= | CA1584798153 | TGFBI | c.1548-6C= (n.1548-6C=) n.2065-6C= c.1526-6C= c.545-6C= n.319-6C= c.700-6C= | |
5 | g.136056659_136056660delinsCT | CA1584798152 | TGFBI | c.1548-6_1548-5delinsCT (n.1548-6_1548-5delinsCT) n.2065-6_2065-5delinsCT c.1526-6_1526-5delinsCT c.545-6_545-5delinsCT n.319-6_319-5delinsCT c.700-6_700-5delinsCT | |
5 | g.136056660del | CA3420458 | TGFBI | c.1548-5del (n.1548-5del) n.2065-5del c.1526-5del c.545-5del n.319-5del c.700-5del | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056660T>C | CA2675398195 | TGFBI | c.1548-5T>C (n.1548-5T>C) n.2065-5T>C c.1526-5T>C c.545-5T>C n.319-5T>C c.700-5T>C | gnomAD v4 |
5 | g.136056662C= | CA1584798158 | TGFBI | c.1548-3C= (n.1548-3C=) n.2065-3C= c.1526-3C= c.545-3C= n.319-3C= c.700-3C= | |
5 | g.136056662C>T | CA563254368 | TGFBI | c.1548-3C>T (n.1548-3C>T) n.2065-3C>T c.1526-3C>T c.545-3C>T n.319-3C>T c.700-3C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056663A= | CA1584798161 | TGFBI | c.1548-2A= (n.1548-2A=) n.2065-2A= c.1526-2A= c.545-2A= n.319-2A= c.700-2A= | |
5 | g.136056663A>C | CA361041154 | TGFBI | c.1548-2A>C (n.1548-2A>C) n.2065-2A>C c.1526-2A>C c.545-2A>C n.319-2A>C c.700-2A>C | dbSNP gnomAD v4 |
5 | g.136056663A>G | CA361041156 | TGFBI | c.1548-2A>G (n.1548-2A>G) n.2065-2A>G c.1526-2A>G c.545-2A>G n.319-2A>G c.700-2A>G | |
5 | g.136056663A>T | CA361041157 | TGFBI | c.1548-2A>T (n.1548-2A>T) n.2065-2A>T c.1526-2A>T c.545-2A>T n.319-2A>T c.700-2A>T | dbSNP |
5 | g.136056664G>A | CA361041161 | TGFBI | c.1548-1G>A (n.1548-1G>A) n.2065-1G>A c.1526-1G>A c.545-1G>A n.319-1G>A c.700-1G>A | gnomAD v4 |
5 | g.136056664G>C | CA361041164 | TGFBI | c.1548-1G>C (n.1548-1G>C) n.2065-1G>C c.1526-1G>C c.545-1G>C n.319-1G>C c.700-1G>C | |
5 | g.136056664G>T | CA361041166 | TGFBI | c.1548-1G>T (n.1548-1G>T) n.2065-1G>T c.1526-1G>T c.545-1G>T n.319-1G>T c.700-1G>T | |
5 | g.136056665C>A | CA361041174 | TGFBI | c.1548C>A (p.Ser516Arg) n.2065C>A c.1526C>A c.545C>A n.319C>A c.700C>A | |
5 | g.136056665C>G | CA361041180 | TGFBI | c.1548C>G (p.Ser516Arg) n.2065C>G c.1526C>G c.545C>G n.319C>G c.700C>G | |
5 | g.136056665C>T | CA446551803 | TGFBI | c.1548C>T (p.Ser516=) n.2065C>T c.1526C>T c.545C>T n.319C>T c.700C>T | |
5 | g.136056666A= | CA1584798164 | TGFBI | c.1549A= (p.Met517=) n.2066A= c.1527A= c.546A= n.320A= c.701A= | |
5 | g.136056666A>C | CA128058980 | TGFBI | c.1549A>C (p.Met517Leu) n.2066A>C c.1527A>C c.546A>C n.320A>C c.701A>C | dbSNP gnomAD v4 |
5 | g.136056666A>G | CA361041195 | TGFBI | c.1549A>G (p.Met517Val) n.2066A>G c.1527A>G c.546A>G n.320A>G c.701A>G | dbSNP gnomAD v4 |
5 | g.136056666A>T | CA361041194 | TGFBI | c.1549A>T (p.Met517Leu) n.2066A>T c.1527A>T c.546A>T n.320A>T c.701A>T | |
5 | g.136056667T>A | CA361041197 | TGFBI | c.1550T>A (p.Met517Lys) n.2067T>A c.1528T>A c.547T>A n.321T>A c.702T>A | |
5 | g.136056667T>C | CA361041204 | TGFBI | c.1550T>C (p.Met517Thr) n.2067T>C c.1528T>C c.547T>C n.321T>C c.702T>C | |
5 | g.136056667T>G | CA361041200 | TGFBI | c.1550T>G (p.Met517Arg) n.2067T>G c.1528T>G c.547T>G n.321T>G c.702T>G | |
5 | g.136056668G>A | CA361041211 | TGFBI | c.1551G>A (p.Met517Ile) n.2068G>A c.1529G>A c.548G>A n.322G>A c.703G>A | |
5 | g.136056668G>C | CA361041227 | TGFBI | c.1551G>C (p.Met517Ile) n.2068G>C c.1529G>C c.548G>C n.322G>C c.703G>C | |
5 | g.136056668G>T | CA361041219 | TGFBI | c.1551G>T (p.Met517Ile) n.2068G>T c.1529G>T c.548G>T n.322G>T c.703G>T | |
5 | g.136056669C>A | CA361041230 | TGFBI | c.1552C>A (p.Leu518Met) n.2069C>A c.1530C>A c.549C>A n.323C>A c.704C>A | |
5 | g.136056669C= | CA1584798167 | TGFBI | c.1552C= (p.Leu518=) n.2069C= c.1530C= c.549C= n.323C= c.704C= | |
5 | g.136056669C>G | CA361041236 | TGFBI | c.1552C>G (p.Leu518Val) n.2069C>G c.1530C>G c.549C>G n.323C>G c.704C>G | |
5 | g.136056669C>T | CA3420459 | TGFBI | c.1552C>T (p.Leu518=) n.2069C>T c.1530C>T c.549C>T n.323C>T c.704C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056670T>A | CA361041245 | TGFBI | c.1553T>A (p.Leu518Gln) n.2070T>A c.1531T>A c.550T>A n.324T>A c.705T>A | |
5 | g.136056670T>C | CA361041257 | TGFBI | c.1553T>C (p.Leu518Pro) n.2070T>C c.1531T>C c.550T>C n.324T>C c.705T>C | |
5 | g.136056670T>G | CA361041259 | TGFBI | c.1553T>G (p.Leu518Arg) n.2070T>G c.1531T>G c.550T>G n.324T>G c.705T>G | |
5 | g.136056671G>A | CA446551804 | TGFBI | c.1554G>A (p.Leu518=) n.2071G>A c.1532G>A c.551G>A n.325G>A c.706G>A | gnomAD v4 |
5 | g.136056671G>C | CA446551805 | TGFBI | c.1554G>C (p.Leu518=) n.2071G>C c.1532G>C c.551G>C n.325G>C c.706G>C | |
5 | g.136056671G>T | CA446551806 | TGFBI | c.1554G>T (p.Leu518=) n.2071G>T c.1532G>T c.551G>T n.325G>T c.706G>T | |
5 | g.136056672G>A | CA361041264 | TGFBI | c.1555G>A (p.Val519Ile) n.2072G>A c.1533G>A c.552G>A n.326G>A c.707G>A | |
5 | g.136056672G>C | CA361041271 | TGFBI | c.1555G>C (p.Val519Leu) n.2072G>C c.1533G>C c.552G>C n.326G>C c.707G>C | |
5 | g.136056672G>T | CA361041273 | TGFBI | c.1555G>T (p.Val519Leu) n.2072G>T c.1533G>T c.552G>T n.326G>T c.707G>T | |
5 | g.136056673T>A | CA361041277 | TGFBI | c.1556T>A (p.Val519Glu) n.2073T>A c.1534T>A c.553T>A n.327T>A c.708T>A | |
5 | g.136056673T>C | CA361041279 | TGFBI | c.1556T>C (p.Val519Ala) n.2073T>C c.1534T>C c.553T>C n.327T>C c.708T>C | |
5 | g.136056673T>G | CA361041283 | TGFBI | c.1556T>G (p.Val519Gly) n.2073T>G c.1534T>G c.553T>G n.327T>G c.708T>G | dbSNP |
5 | g.136056673delinsGAGG | CA2695205178 | TGFBI | c.1556delinsGAGG (p.Val519delinsGlyGly) n.2073delinsGAGG c.1534delinsGAGG c.553delinsGAGG n.327delinsGAGG c.708delinsGAGG | |
5 | g.136056674A= | CA1584798169 | TGFBI | c.1557A= (p.Val519=) n.2074A= c.1535A= c.554A= n.328A= c.709A= | |
5 | g.136056674A>C | CA446551807 | TGFBI | c.1557A>C (p.Val519=) n.2074A>C c.1535A>C c.554A>C n.328A>C c.709A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056674A>G | CA446551808 | TGFBI | c.1557A>G (p.Val519=) n.2074A>G c.1535A>G c.554A>G n.328A>G c.709A>G | |
5 | g.136056674A>T | CA446551809 | TGFBI | c.1557A>T (p.Val519=) n.2074A>T c.1535A>T c.554A>T n.328A>T c.709A>T | |
5 | g.136056675G>A | CA361041289 | TGFBI | c.1558G>A (p.Ala520Thr) n.2075G>A c.1536G>A c.555G>A n.329G>A c.710G>A | |
5 | g.136056675G>C | CA361041290 | TGFBI | c.1558G>C (p.Ala520Pro) n.2075G>C c.1536G>C c.555G>C n.329G>C c.710G>C | |
5 | g.136056675G>T | CA361041291 | TGFBI | c.1558G>T (p.Ala520Ser) n.2075G>T c.1536G>T c.555G>T n.329G>T c.710G>T | |
5 | g.136056676C>A | CA361041296 | TGFBI | c.1559C>A (p.Ala520Asp) n.2076C>A c.1537C>A c.556C>A n.330C>A c.711C>A | |
5 | g.136056676C= | CA1584798171 | TGFBI | c.1559C= (p.Ala520=) n.2076C= c.1537C= c.556C= n.330C= c.711C= | |
5 | g.136056676C>G | CA361041302 | TGFBI | c.1559C>G (p.Ala520Gly) n.2076C>G c.1537C>G c.556C>G n.330C>G c.711C>G | |
5 | g.136056676C>T | CA361041300 | TGFBI | c.1559C>T (p.Ala520Val) n.2076C>T c.1537C>T c.556C>T n.330C>T c.711C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056677T>A | CA446551810 | TGFBI | c.1560T>A (p.Ala520=) n.2077T>A c.1538T>A c.557T>A n.331T>A c.712T>A | |
5 | g.136056677T>C | CA446551811 | TGFBI | c.1560T>C (p.Ala520=) n.2077T>C c.1538T>C c.557T>C n.331T>C c.712T>C | |
5 | g.136056677T>G | CA446551812 | TGFBI | c.1560T>G (p.Ala520=) n.2077T>G c.1538T>G c.557T>G n.331T>G c.712T>G | |
5 | g.136056678G>A | CA361041307 | TGFBI | c.1561G>A (p.Ala521Thr) n.2078G>A c.1539G>A c.558G>A n.332G>A c.713G>A | |
5 | g.136056678G>C | CA361041310 | TGFBI | c.1561G>C (p.Ala521Pro) n.2078G>C c.1539G>C c.558G>C n.332G>C c.713G>C | |
5 | g.136056678G>T | CA361041316 | TGFBI | c.1561G>T (p.Ala521Ser) n.2078G>T c.1539G>T c.558G>T n.332G>T c.713G>T | gnomAD v4 |
5 | g.136056679C>A | CA361041322 | TGFBI | c.1562C>A (p.Ala521Asp) n.2079C>A c.1540C>A c.559C>A n.333C>A c.714C>A | |
5 | g.136056679C>G | CA361041324 | TGFBI | c.1562C>G (p.Ala521Gly) n.2079C>G c.1540C>G c.559C>G n.333C>G c.714C>G | |
5 | g.136056679C>T | CA361041329 | TGFBI | c.1562C>T (p.Ala521Val) n.2079C>T c.1540C>T c.559C>T n.333C>T c.714C>T | gnomAD v4 |
5 | g.136056680C>A | CA446551813 | TGFBI | c.1563C>A (p.Ala521=) n.2080C>A c.1541C>A c.560C>A n.334C>A c.715C>A | |
5 | g.136056680C= | CA1584798174 | TGFBI | c.1563C= (p.Ala521=) n.2080C= c.1541C= c.560C= n.334C= c.715C= | |
5 | g.136056680C>G | CA446551814 | TGFBI | c.1563C>G (p.Ala521=) n.2080C>G c.1541C>G c.560C>G n.334C>G c.715C>G | gnomAD v4 |
5 | g.136056680C>T | CA446551815 | TGFBI | c.1563C>T (p.Ala521=) n.2080C>T c.1541C>T c.560C>T n.334C>T c.715C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056681A= | CA1584798178 | TGFBI | c.1564A= (p.Ile522=) n.2081A= c.1542A= c.561A= n.335A= c.716A= | |
5 | g.136056681A>C | CA361041333 | TGFBI | c.1564A>C (p.Ile522Leu) n.2081A>C c.1542A>C c.561A>C n.335A>C c.716A>C | |
5 | g.136056681A>G | CA361041337 | TGFBI | c.1564A>G (p.Ile522Val) n.2081A>G c.1542A>G c.561A>G n.335A>G c.716A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056681A>T | CA361041340 | TGFBI | c.1564A>T (p.Ile522Phe) n.2081A>T c.1542A>T c.561A>T n.335A>T c.716A>T | |
5 | g.136056682T>A | CA361041349 | TGFBI | c.1565T>A (p.Ile522Asn) n.2082T>A c.1543T>A c.562T>A n.336T>A c.717T>A | |
5 | g.136056682T>C | CA361041360 | TGFBI | c.1565T>C (p.Ile522Thr) n.2082T>C c.1543T>C c.562T>C n.336T>C c.717T>C | |
5 | g.136056682T>G | CA361041344 | TGFBI | c.1565T>G (p.Ile522Ser) n.2082T>G c.1543T>G c.562T>G n.336T>G c.717T>G | |
5 | g.136056683C>A | CA446551816 | TGFBI | c.1566C>A (p.Ile522=) n.2083C>A c.1544C>A c.563C>A n.337C>A c.718C>A | COSMIC |
5 | g.136056683C= | CA1584798181 | TGFBI | c.1566C= (p.Ile522=) n.2083C= c.1544C= c.563C= n.337C= c.718C= | |
5 | g.136056683C>G | CA361041365 | TGFBI | c.1566C>G (p.Ile522Met) n.2083C>G c.1544C>G c.563C>G n.337C>G c.718C>G | |
5 | g.136056683C>T | CA3420460 | TGFBI | c.1566C>T (p.Ile522=) n.2083C>T c.1544C>T c.563C>T n.337C>T c.718C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056684C>A | CA361041367 | TGFBI | c.1567C>A (p.Gln523Lys) n.2084C>A c.1545C>A c.564C>A n.338C>A c.719C>A | |
5 | g.136056684C= | CA1584798185 | TGFBI | c.1567C= (p.Gln523=) n.2084C= c.1545C= c.564C= n.338C= c.719C= | |
5 | g.136056684C>G | CA361041371 | TGFBI | c.1567C>G (p.Gln523Glu) n.2084C>G c.1545C>G c.564C>G n.338C>G c.719C>G | |
5 | g.136056684C>T | CA361041374 | TGFBI | c.1567C>T (p.Gln523Ter) n.2084C>T c.1545C>T c.564C>T n.338C>T c.719C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056685A= | CA1584798190 | TGFBI | c.1568A= (p.Gln523=) n.2085A= c.1546A= c.565A= n.339A= c.720A= | |
5 | g.136056685A>C | CA361041389 | TGFBI | c.1568A>C (p.Gln523Pro) n.2085A>C c.1546A>C c.565A>C n.339A>C c.720A>C | |
5 | g.136056685A>G | CA361041380 | TGFBI | c.1568A>G (p.Gln523Arg) n.2085A>G c.1546A>G c.565A>G n.339A>G c.720A>G | |
5 | g.136056685A>T | CA361041383 | TGFBI | c.1568A>T (p.Gln523Leu) n.2085A>T c.1546A>T c.565A>T n.339A>T c.720A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056686G>A | CA446551817 | TGFBI | c.1569G>A (p.Gln523=) n.2086G>A c.1547G>A c.566G>A n.340G>A c.721G>A | |
5 | g.136056686G>C | CA361041395 | TGFBI | c.1569G>C (p.Gln523His) n.2086G>C c.1547G>C c.566G>C n.340G>C c.721G>C | gnomAD v4 COSMIC COSMIC |
5 | g.136056686G>T | CA361041405 | TGFBI | c.1569G>T (p.Gln523His) n.2086G>T c.1547G>T c.566G>T n.340G>T c.721G>T | |
5 | g.136056687T>A | CA361041409 | TGFBI | c.1570T>A (p.Ser524Thr) n.2087T>A c.1548T>A c.567T>A n.341T>A c.722T>A | |
5 | g.136056687T>C | CA361041413 | TGFBI | c.1570T>C (p.Ser524Pro) n.2087T>C c.1548T>C c.567T>C n.341T>C c.722T>C | dbSNP |
5 | g.136056687T>G | CA361041415 | TGFBI | c.1570T>G (p.Ser524Ala) n.2087T>G c.1548T>G c.567T>G n.341T>G c.722T>G | |
5 | g.136056687T= | CA1584798193 | TGFBI | c.1570T= (p.Ser524=) n.2087T= c.1548T= c.567T= n.341T= c.722T= | |
5 | g.136056688C>A | CA361041422 | TGFBI | c.1571C>A (p.Ser524Tyr) n.2088C>A c.1549C>A c.568C>A n.342C>A c.723C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056688C= | CA1584798196 | TGFBI | c.1571C= (p.Ser524=) n.2088C= c.1549C= c.568C= n.342C= c.723C= | |
5 | g.136056688C>G | CA361041432 | TGFBI | c.1571C>G (p.Ser524Cys) n.2088C>G c.1549C>G c.568C>G n.342C>G c.723C>G | |
5 | g.136056688C>T | CA361041425 | TGFBI | c.1571C>T (p.Ser524Phe) n.2088C>T c.1549C>T c.568C>T n.342C>T c.723C>T | |
5 | g.136056689T>A | CA446551820 | TGFBI | c.1572T>A (p.Ser524=) n.2089T>A c.1550T>A c.569T>A n.343T>A c.724T>A | |
5 | g.136056689T>C | CA446551818 | TGFBI | c.1572T>C (p.Ser524=) n.2089T>C c.1550T>C c.569T>C n.343T>C c.724T>C | |
5 | g.136056689T>G | CA446551819 | TGFBI | c.1572T>G (p.Ser524=) n.2089T>G c.1550T>G c.569T>G n.343T>G c.724T>G | |
5 | g.136056690G>A | CA361041441 | TGFBI | c.1573G>A (p.Ala525Thr) n.2090G>A c.1551G>A c.570G>A n.344G>A c.725G>A | |
5 | g.136056690G>C | CA361041443 | TGFBI | c.1573G>C (p.Ala525Pro) n.2090G>C c.1551G>C c.570G>C n.344G>C c.725G>C | |
5 | g.136056690G>T | CA361041447 | TGFBI | c.1573G>T (p.Ala525Ser) n.2090G>T c.1551G>T c.570G>T n.344G>T c.725G>T | |
5 | g.136056691C>A | CA361041452 | TGFBI | c.1574C>A (p.Ala525Glu) n.2091C>A c.1552C>A c.571C>A n.345C>A c.726C>A | |
5 | g.136056691C= | CA1584798202 | TGFBI | c.1574C= (p.Ala525=) n.2091C= c.1552C= c.571C= n.345C= c.726C= | |
5 | g.136056691C>G | CA361041456 | TGFBI | c.1574C>G (p.Ala525Gly) n.2091C>G c.1552C>G c.571C>G n.345C>G c.726C>G | |
5 | g.136056691C>T | CA361041458 | TGFBI | c.1574C>T (p.Ala525Val) n.2091C>T c.1552C>T c.571C>T n.345C>T c.726C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056692A>C | CA446551821 | TGFBI | c.1575A>C (p.Ala525=) n.2092A>C c.1553A>C c.572A>C n.346A>C c.727A>C | gnomAD v4 |
5 | g.136056692A>G | CA446551822 | TGFBI | c.1575A>G (p.Ala525=) n.2092A>G c.1553A>G c.572A>G n.346A>G c.727A>G | |
5 | g.136056692A>T | CA446551823 | TGFBI | c.1575A>T (p.Ala525=) n.2092A>T c.1553A>T c.572A>T n.346A>T c.727A>T | |
5 | g.136056693G>A | CA361041460 | TGFBI | c.1576G>A (p.Gly526Arg) n.2093G>A c.1554G>A c.573G>A n.347G>A c.728G>A | |
5 | g.136056693G>C | CA361041464 | TGFBI | c.1576G>C (p.Gly526Arg) n.2093G>C c.1554G>C c.573G>C n.347G>C c.728G>C | |
5 | g.136056693G>T | CA361041467 | TGFBI | c.1576G>T (p.Gly526Ter) n.2093G>T c.1554G>T c.573G>T n.347G>T c.728G>T | |
5 | g.136056694G>A | CA361041471 | TGFBI | c.1577G>A (p.Gly526Glu) n.2094G>A c.1555G>A c.574G>A n.348G>A c.729G>A | |
5 | g.136056694G>C | CA361041477 | TGFBI | c.1577G>C (p.Gly526Ala) n.2094G>C c.1555G>C c.574G>C n.348G>C c.729G>C | |
5 | g.136056694G>T | CA361041487 | TGFBI | c.1577G>T (p.Gly526Val) n.2094G>T c.1555G>T c.574G>T n.348G>T c.729G>T | |
5 | g.136056695A>C | CA446551826 | TGFBI | c.1578A>C (p.Gly526=) n.2095A>C c.1556A>C c.575A>C n.349A>C c.730A>C | |
5 | g.136056695A>G | CA446551824 | TGFBI | c.1578A>G (p.Gly526=) n.2095A>G c.1556A>G c.575A>G n.349A>G c.730A>G | |
5 | g.136056695A>T | CA446551825 | TGFBI | c.1578A>T (p.Gly526=) n.2095A>T c.1556A>T c.575A>T n.349A>T c.730A>T | |
5 | g.136056696C>A | CA361041491 | TGFBI | c.1579C>A (p.Leu527Met) n.2096C>A c.1557C>A c.576C>A n.350C>A c.731C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056696C= | CA1584798206 | TGFBI | c.1579C= (p.Leu527=) n.2096C= c.1557C= c.576C= n.350C= c.731C= | |
5 | g.136056696C>G | CA361041496 | TGFBI | c.1579C>G (p.Leu527Val) n.2096C>G c.1557C>G c.576C>G n.350C>G c.731C>G | |
5 | g.136056696C>T | CA446551827 | TGFBI | c.1579C>T (p.Leu527=) n.2096C>T c.1557C>T c.576C>T n.350C>T c.731C>T | |
5 | g.136056697T>A | CA361041501 | TGFBI | c.1580T>A (p.Leu527Gln) n.2097T>A c.1558T>A c.577T>A n.351T>A c.732T>A | |
5 | g.136056697T>C | CA361041506 | TGFBI | c.1580T>C (p.Leu527Pro) n.2097T>C c.1558T>C c.577T>C n.351T>C c.732T>C | gnomAD v4 |
5 | g.136056697T>G | CA128058989 | TGFBI | c.1580T>G (p.Leu527Arg) n.2097T>G c.1558T>G c.577T>G n.351T>G c.732T>G | dbSNP gnomAD v4 |
5 | g.136056697T= | CA1584798209 | TGFBI | c.1580T= (p.Leu527=) n.2097T= c.1558T= c.577T= n.351T= c.732T= | |
5 | g.136056698G>A | CA446551828 | TGFBI | c.1581G>A (p.Leu527=) n.2098G>A c.1559G>A c.578G>A n.352G>A c.733G>A | |
5 | g.136056698G>C | CA446551829 | TGFBI | c.1581G>C (p.Leu527=) n.2098G>C c.1559G>C c.578G>C n.352G>C c.733G>C | |
5 | g.136056698G>T | CA446551830 | TGFBI | c.1581G>T (p.Leu527=) n.2098G>T c.1559G>T c.578G>T n.352G>T c.733G>T | |
5 | g.136056699A>C | CA361041516 | TGFBI | c.1582A>C (p.Thr528Pro) n.2099A>C c.1560A>C c.579A>C n.353A>C c.734A>C | |
5 | g.136056699A>G | CA361041521 | TGFBI | c.1582A>G (p.Thr528Ala) n.2099A>G c.1560A>G c.579A>G n.353A>G c.734A>G | |
5 | g.136056699A>T | CA361041527 | TGFBI | c.1582A>T (p.Thr528Ser) n.2099A>T c.1560A>T c.579A>T n.353A>T c.734A>T | |
5 | g.136056700C>A | CA361041533 | TGFBI | c.1583C>A (p.Thr528Lys) n.2100C>A c.1561C>A c.580C>A n.354C>A c.735C>A | |
5 | g.136056700C= | CA1584798213 | TGFBI | c.1583C= (p.Thr528=) n.2100C= c.1561C= c.580C= n.354C= c.735C= | |
5 | g.136056700C>G | CA361041535 | TGFBI | c.1583C>G (p.Thr528Arg) n.2100C>G c.1561C>G c.580C>G n.354C>G c.735C>G | |
5 | g.136056700C>T | CA3420461 | TGFBI | c.1583C>T (p.Thr528Met) n.2100C>T c.1561C>T c.580C>T n.354C>T c.735C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056701G>A | CA3420462 | TGFBI | c.1584G>A (p.Thr528=) n.2101G>A c.1562G>A c.581G>A n.355G>A c.736G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.136056701G>C | CA446551831 | TGFBI | c.1584G>C (p.Thr528=) n.2101G>C c.1562G>C c.581G>C n.355G>C c.736G>C | |
5 | g.136056701G= | CA1584798218 | TGFBI | c.1584G= (p.Thr528=) n.2101G= c.1562G= c.581G= n.355G= c.736G= | |
5 | g.136056701G>T | CA446551832 | TGFBI | c.1584G>T (p.Thr528=) n.2101G>T c.1562G>T c.581G>T n.355G>T c.736G>T | |
5 | g.136056702G>A | CA361041542 | TGFBI | c.1585G>A (p.Glu529Lys) n.2102G>A c.1563G>A c.582G>A n.356G>A c.737G>A | COSMIC |
5 | g.136056702G>C | CA361041543 | TGFBI | c.1585G>C (p.Glu529Gln) n.2102G>C c.1563G>C c.582G>C n.356G>C c.737G>C | |
5 | g.136056702G>T | CA361041544 | TGFBI | c.1585G>T (p.Glu529Ter) n.2102G>T c.1563G>T c.582G>T n.356G>T c.737G>T | |
5 | g.136056703A= | CA1584798223 | TGFBI | c.1586A= (p.Glu529=) n.2103A= c.1564A= c.583A= n.357A= c.738A= | |
5 | g.136056703A>C | CA361041564 | TGFBI | c.1586A>C (p.Glu529Ala) n.2103A>C c.1564A>C c.583A>C n.357A>C c.738A>C | |
5 | g.136056703A>G | CA3420463 | TGFBI | c.1586A>G (p.Glu529Gly) n.2103A>G c.1564A>G c.583A>G n.357A>G c.738A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.136056703A>T | CA361041549 | TGFBI | c.1586A>T (p.Glu529Val) n.2103A>T c.1564A>T c.583A>T n.357A>T c.738A>T | |
5 | g.136056704G>A | CA446551833 | TGFBI | c.1587G>A (p.Glu529=) n.2104G>A c.1565G>A c.584G>A n.358G>A c.739G>A | |
5 | g.136056704G>C | CA361041574 | TGFBI | c.1587G>C (p.Glu529Asp) n.2104G>C c.1565G>C c.584G>C n.358G>C c.739G>C | |
5 | g.136056704G= | CA1584798227 | TGFBI | c.1587G= (p.Glu529=) n.2104G= c.1565G= c.584G= n.358G= c.739G= | |
5 | g.136056704G>T | CA128058995 | TGFBI | c.1587G>T (p.Glu529Asp) n.2104G>T c.1565G>T c.584G>T n.358G>T c.739G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056705A= | CA1584798230 | TGFBI | c.1588A= (p.Thr530=) n.2105A= c.1566A= c.585A= n.359A= c.740A= | |
5 | g.136056705A>C | CA361041583 | TGFBI | c.1588A>C (p.Thr530Pro) n.2105A>C c.1566A>C c.585A>C n.359A>C c.740A>C | |
5 | g.136056705A>G | CA361041588 | TGFBI | c.1588A>G (p.Thr530Ala) n.2105A>G c.1566A>G c.585A>G n.359A>G c.740A>G | |
5 | g.136056705A>T | CA361041591 | TGFBI | c.1588A>T (p.Thr530Ser) n.2105A>T c.1566A>T c.585A>T n.359A>T c.740A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056706C>A | CA361041592 | TGFBI | c.1589C>A (p.Thr530Asn) n.2106C>A c.1567C>A c.586C>A n.360C>A c.741C>A | |
5 | g.136056706C>G | CA361041593 | TGFBI | c.1589C>G (p.Thr530Ser) n.2106C>G c.1567C>G c.586C>G n.360C>G c.741C>G | |
5 | g.136056706C>T | CA361041594 | TGFBI | c.1589C>T (p.Thr530Ile) n.2106C>T c.1567C>T c.586C>T n.360C>T c.741C>T | |
5 | g.136056707C>A | CA446551834 | TGFBI | c.1590C>A (p.Thr530=) n.2107C>A c.1568C>A c.587C>A n.361C>A c.742C>A | |
5 | g.136056707C>G | CA446551835 | TGFBI | c.1590C>G (p.Thr530=) n.2107C>G c.1568C>G c.587C>G n.361C>G c.742C>G | |
5 | g.136056707C>T | CA446551836 | TGFBI | c.1590C>T (p.Thr530=) n.2107C>T c.1568C>T c.587C>T n.361C>T c.742C>T | gnomAD v4 |
5 | g.136056708C>A | CA361041596 | TGFBI | c.1591C>A (p.Leu531Ile) n.2108C>A c.1569C>A c.588C>A n.362C>A c.743C>A | |
5 | g.136056708C= | CA1584798231 | TGFBI | c.1591C= (p.Leu531=) n.2108C= c.1569C= c.588C= n.362C= c.743C= | |
5 | g.136056708C>G | CA3420464 | TGFBI | c.1591C>G (p.Leu531Val) n.2108C>G c.1569C>G c.588C>G n.362C>G c.743C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056708C>T | CA361041600 | TGFBI | c.1591C>T (p.Leu531Phe) n.2108C>T c.1569C>T c.588C>T n.362C>T c.743C>T | |
5 | g.136056709T>A | CA361041604 | TGFBI | c.1592T>A (p.Leu531His) n.2109T>A c.1570T>A c.589T>A n.363T>A c.744T>A | |
5 | g.136056709T>C | CA361041607 | TGFBI | c.1592T>C (p.Leu531Pro) n.2109T>C c.1570T>C c.589T>C n.363T>C c.744T>C | |
5 | g.136056709T>G | CA361041601 | TGFBI | c.1592T>G (p.Leu531Arg) n.2109T>G c.1570T>G c.589T>G n.363T>G c.744T>G | |
5 | g.136056710C>A | CA446551837 | TGFBI | c.1593C>A (p.Leu531=) n.2110C>A c.1571C>A c.590C>A n.364C>A c.745C>A | |
5 | g.136056710C= | CA1584798235 | TGFBI | c.1593C= (p.Leu531=) n.2110C= c.1571C= c.590C= n.364C= c.745C= | |
5 | g.136056710C>G | CA446551838 | TGFBI | c.1593C>G (p.Leu531=) n.2110C>G c.1571C>G c.590C>G n.364C>G c.745C>G | |
5 | g.136056710C>T | CA446551839 | TGFBI | c.1593C>T (p.Leu531=) n.2110C>T c.1571C>T c.590C>T n.364C>T c.745C>T | dbSNP gnomAD v4 |
5 | g.136056711A>C | CA361041613 | TGFBI | c.1594A>C (p.Asn532His) n.2111A>C c.1572A>C c.591A>C n.365A>C c.746A>C | |
5 | g.136056711A>G | CA361041616 | TGFBI | c.1594A>G (p.Asn532Asp) n.2111A>G c.1572A>G c.591A>G n.365A>G c.746A>G | |
5 | g.136056711A>T | CA361041617 | TGFBI | c.1594A>T (p.Asn532Tyr) n.2111A>T c.1572A>T c.591A>T n.365A>T c.746A>T | |
5 | g.136056712A= | CA1584798237 | TGFBI | c.1595A= (p.Asn532=) n.2112A= c.1573A= c.592A= n.366A= c.747A= | |
5 | g.136056712A>C | CA361041619 | TGFBI | c.1595A>C (p.Asn532Thr) n.2112A>C c.1573A>C c.592A>C n.366A>C c.747A>C | |
5 | g.136056712A>G | CA361041623 | TGFBI | c.1595A>G (p.Asn532Ser) n.2112A>G c.1573A>G c.592A>G n.366A>G c.747A>G | dbSNP gnomAD v4 |
5 | g.136056712A>T | CA361041626 | TGFBI | c.1595A>T (p.Asn532Ile) n.2112A>T c.1573A>T c.592A>T n.366A>T c.747A>T | |
5 | g.136056713C>A | CA361041631 | TGFBI | c.1596C>A (p.Asn532Lys) n.2113C>A c.1574C>A c.593C>A n.367C>A c.748C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056713C= | CA1584798240 | TGFBI | c.1596C= (p.Asn532=) n.2113C= c.1574C= c.593C= n.367C= c.748C= | |
5 | g.136056713C>G | CA361041630 | TGFBI | c.1596C>G (p.Asn532Lys) n.2113C>G c.1574C>G c.593C>G n.367C>G c.748C>G | |
5 | g.136056713C>T | CA446551840 | TGFBI | c.1596C>T (p.Asn532=) n.2113C>T c.1574C>T c.593C>T n.367C>T c.748C>T | |
5 | g.136056714C>A | CA3420465 | TGFBI | c.1597C>A (p.Arg533=) n.2114C>A c.1575C>A c.594C>A n.368C>A c.749C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.136056714C= | CA1584798243 | TGFBI | c.1597C= (p.Arg533=) n.2114C= c.1575C= c.594C= n.368C= c.749C= | |
5 | g.136056714C>G | CA361041634 | TGFBI | c.1597C>G (p.Arg533Gly) n.2114C>G c.1575C>G c.594C>G n.368C>G c.749C>G | |
5 | g.136056714C>T | CA361041640 | TGFBI | c.1597C>T (p.Arg533Trp) n.2114C>T c.1575C>T c.594C>T n.368C>T c.749C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056715G>A | CA3420466 | TGFBI | c.1598G>A (p.Arg533Gln) n.2115G>A c.1576G>A c.595G>A n.369G>A c.750G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056715G>C | CA361041646 | TGFBI | c.1598G>C (p.Arg533Pro) n.2115G>C c.1576G>C c.595G>C n.369G>C c.750G>C | |
5 | g.136056715G= | CA1584798245 | TGFBI | c.1598G= (p.Arg533=) n.2115G= c.1576G= c.595G= n.369G= c.750G= | |
5 | g.136056715G>T | CA3420467 | TGFBI | c.1598G>T (p.Arg533Leu) n.2115G>T c.1576G>T c.595G>T n.369G>T c.750G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.136056716G>A | CA446551841 | TGFBI | c.1599G>A (p.Arg533=) n.2116G>A c.1577G>A c.596G>A n.370G>A c.751G>A | gnomAD v4 |
5 | g.136056716G>C | CA446551843 | TGFBI | c.1599G>C (p.Arg533=) n.2116G>C c.1577G>C c.596G>C n.370G>C c.751G>C | |
5 | g.136056716G>T | CA446551842 | TGFBI | c.1599G>T (p.Arg533=) n.2116G>T c.1577G>T c.596G>T n.370G>T c.751G>T | |
5 | g.136056717G>A | CA361041647 | TGFBI | c.1600G>A (p.Glu534Lys) n.2117G>A c.1578G>A c.597G>A n.371G>A c.752G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056717G>C | CA361041654 | TGFBI | c.1600G>C (p.Glu534Gln) n.2117G>C c.1578G>C c.597G>C n.371G>C c.752G>C | |
5 | g.136056717G= | CA1584798248 | TGFBI | c.1600G= (p.Glu534=) n.2117G= c.1578G= c.597G= n.371G= c.752G= | |
5 | g.136056717G>T | CA361041649 | TGFBI | c.1600G>T (p.Glu534Ter) n.2117G>T c.1578G>T c.597G>T n.371G>T c.752G>T | |
5 | g.136056718A>C | CA361041658 | TGFBI | c.1601A>C (p.Glu534Ala) n.2118A>C c.1579A>C c.598A>C n.372A>C c.753A>C | |
5 | g.136056718A>G | CA361041661 | TGFBI | c.1601A>G (p.Glu534Gly) n.2118A>G c.1579A>G c.598A>G n.372A>G c.753A>G | gnomAD v4 |
5 | g.136056718A>T | CA361041662 | TGFBI | c.1601A>T (p.Glu534Val) n.2118A>T c.1579A>T c.598A>T n.372A>T c.753A>T | |
5 | g.136056719A>C | CA361041663 | TGFBI | c.1602A>C (p.Glu534Asp) n.2119A>C c.1580A>C c.599A>C n.373A>C c.754A>C | |
5 | g.136056719A>G | CA446551844 | TGFBI | c.1602A>G (p.Glu534=) n.2119A>G c.1580A>G c.599A>G n.373A>G c.754A>G | |
5 | g.136056719A>T | CA361041665 | TGFBI | c.1602A>T (p.Glu534Asp) n.2119A>T c.1580A>T c.599A>T n.373A>T c.754A>T | |
5 | g.136056720G>A | CA361041670 | TGFBI | c.1603G>A (p.Gly535Arg) n.2120G>A c.1581G>A c.600G>A n.374G>A c.755G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136056720G>C | CA361041673 | TGFBI | c.1603G>C (p.Gly535Arg) n.2120G>C c.1581G>C c.600G>C n.374G>C c.755G>C | |
5 | g.136056720G= | CA1584798250 | TGFBI | c.1603G= (p.Gly535=) n.2120G= c.1581G= c.600G= n.374G= c.755G= | |
5 | g.136056720G>T | CA361041682 | TGFBI | c.1603G>T (p.Gly535Ter) n.2120G>T c.1581G>T c.600G>T n.374G>T c.755G>T | |
5 | g.136056721G>A | CA361041690 | TGFBI | c.1604G>A (p.Gly535Glu) n.2121G>A c.1582G>A c.601G>A n.375G>A c.756G>A | COSMIC |
5 | g.136056721G>C | CA361041693 | TGFBI | c.1604G>C (p.Gly535Ala) n.2121G>C c.1582G>C c.601G>C n.375G>C c.756G>C | |
5 | g.136056721G>T | CA361041700 | TGFBI | c.1604G>T (p.Gly535Val) n.2121G>T c.1582G>T c.601G>T n.375G>T c.756G>T | |
5 | g.136056722A>C | CA446551845 | TGFBI | c.1605A>C (p.Gly535=) n.2122A>C c.1583A>C c.602A>C n.376A>C c.757A>C | gnomAD v4 |
5 | g.136056722A>G | CA446551846 | TGFBI | c.1605A>G (p.Gly535=) n.2122A>G c.1583A>G c.602A>G n.376A>G c.757A>G | gnomAD v3 gnomAD v4 |
5 | g.136056722A>T | CA446551847 | TGFBI | c.1605A>T (p.Gly535=) n.2122A>T c.1583A>T c.602A>T n.376A>T c.757A>T | |
5 | g.136056723G>A | CA361041713 | TGFBI | c.1606G>A (p.Val536Ile) n.2123G>A c.1584G>A c.603G>A n.377G>A c.758G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.136056723G>C | CA361041712 | TGFBI | c.1606G>C (p.Val536Leu) n.2123G>C c.1584G>C c.603G>C n.377G>C c.758G>C | |
5 | g.136056723G= | CA1584798253 | TGFBI | c.1606G= (p.Val536=) n.2123G= c.1584G= c.603G= n.377G= c.758G= | |
5 | g.136056723G>T | CA361041709 | TGFBI | c.1606G>T (p.Val536Phe) n.2123G>T c.1584G>T c.603G>T n.377G>T c.758G>T | |
5 | g.136056724T>A | CA361041714 | TGFBI | c.1607T>A (p.Val536Asp) n.2124T>A c.1585T>A c.604T>A n.378T>A c.759T>A | |
5 | g.136056724T>C | CA361041725 | TGFBI | c.1607T>C (p.Val536Ala) n.2124T>C c.1585T>C c.604T>C n.378T>C c.759T>C | COSMIC COSMIC |
5 | g.136056724T>G | CA361041719 | TGFBI | c.1607T>G (p.Val536Gly) n.2124T>G c.1585T>G c.604T>G n.378T>G c.759T>G | |
5 | g.136056725C>A | CA446551848 | TGFBI | c.1608C>A (p.Val536=) n.2125C>A c.1586C>A c.605C>A n.379C>A c.760C>A | |
5 | g.136056725C= | CA1584798255 | TGFBI | c.1608C= (p.Val536=) n.2125C= c.1586C= c.605C= n.379C= c.760C= | |
5 | g.136056725C>G | CA446551849 | TGFBI | c.1608C>G (p.Val536=) n.2125C>G c.1586C>G c.605C>G n.379C>G c.760C>G | |
5 | g.136056725C>T | CA446551850 | TGFBI | c.1608C>T (p.Val536=) n.2125C>T c.1586C>T c.605C>T n.379C>T c.760C>T | dbSNP |
5 | g.136056726T>A | CA361041727 | TGFBI | c.1609T>A (p.Tyr537Asn) n.2126T>A c.1587T>A c.606T>A n.380T>A c.761T>A | |
5 | g.136056726T>C | CA128059014 | TGFBI | c.1609T>C (p.Tyr537His) n.2126T>C c.1587T>C c.606T>C n.380T>C c.761T>C | dbSNP |
5 | g.136056726T>G | CA361041734 | TGFBI | c.1609T>G (p.Tyr537Asp) n.2126T>G c.1587T>G c.606T>G n.380T>G c.761T>G | |
5 | g.136056726T= | CA1584798257 | TGFBI | c.1609T= (p.Tyr537=) n.2126T= c.1587T= c.606T= n.380T= c.761T= | |
5 | g.136056726_136056728delinsTAC | CA1584798259 | TGFBI | c.1609_1611delinsTAC (p.Tyr537=) n.2126_2128delinsTAC c.1587_1589delinsTAC c.606_608delinsTAC n.380_382delinsTAC c.761_763delinsTAC | |
5 | g.136056727A>C | CA361041742 | TGFBI | c.1610A>C (p.Tyr537Ser) n.2127A>C c.1588A>C c.607A>C n.381A>C c.762A>C | |
5 | g.136056727A>G | CA361041743 | TGFBI | c.1610A>G (p.Tyr537Cys) n.2127A>G c.1588A>G c.607A>G n.381A>G c.762A>G | |
5 | g.136056727A>T | CA361041745 | TGFBI | c.1610A>T (p.Tyr537Phe) n.2127A>T c.1588A>T c.607A>T n.381A>T c.762A>T | |
5 | g.136056730_136056731del | CA1584798261 | TGFBI | c.1613_1614del (p.Thr538SerfsTer7) n.2130_2131del c.1591_1592del c.610_611del n.384_385del c.765_766del | dbSNP |
5 | g.136056728C>A | CA361041753 | TGFBI | c.1611C>A (p.Tyr537Ter) n.2128C>A c.1589C>A c.608C>A n.382C>A c.763C>A | |
5 | g.136056728C= | CA1584798264 | TGFBI | c.1611C= (p.Tyr537=) n.2128C= c.1589C= c.608C= n.382C= c.763C= | |
5 | g.136056728C>G | CA361041751 | TGFBI | c.1611C>G (p.Tyr537Ter) n.2128C>G c.1589C>G c.608C>G n.382C>G c.763C>G | |
5 | g.136056728C>T | CA446551851 | TGFBI | c.1611C>T (p.Tyr537=) n.2128C>T c.1589C>T c.608C>T n.382C>T c.763C>T | ClinVar dbSNP |
5 | g.136056729A>C | CA361041756 | TGFBI | c.1612A>C (p.Thr538Pro) n.2129A>C c.1590A>C c.609A>C n.383A>C c.764A>C | ClinVar dbSNP |
5 | g.136056729A>G | CA361041757 | TGFBI | c.1612A>G (p.Thr538Ala) n.2129A>G c.1590A>G c.609A>G n.383A>G c.764A>G | |
5 | g.136056729A>T | CA361041761 | TGFBI | c.1612A>T (p.Thr538Ser) n.2129A>T c.1590A>T c.609A>T n.383A>T c.764A>T | |
5 | g.136056730C>A | CA361041764 | TGFBI | c.1613C>A (p.Thr538Lys) n.2130C>A c.1591C>A c.610C>A n.384C>A c.765C>A | |
5 | g.136056730C= | CA1584798268 | TGFBI | c.1613C= (p.Thr538=) n.2130C= c.1591C= c.610C= n.384C= c.765C= | |
5 | g.136056730C>G | CA361041767 | TGFBI | c.1613C>G (p.Thr538Arg) n.2130C>G c.1591C>G c.610C>G n.384C>G c.765C>G | gnomAD v4 |
5 | g.136056730C>T | CA361041770 | TGFBI | c.1613C>T (p.Thr538Ile) n.2130C>T c.1591C>T c.610C>T n.384C>T c.765C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056731A>C | CA446551852 | TGFBI | c.1614A>C (p.Thr538=) n.2131A>C c.1592A>C c.611A>C n.385A>C c.766A>C | |
5 | g.136056731A>G | CA446551853 | TGFBI | c.1614A>G (p.Thr538=) n.2131A>G c.1592A>G c.611A>G n.385A>G c.766A>G | gnomAD v4 |
5 | g.136056731A>T | CA446551854 | TGFBI | c.1614A>T (p.Thr538=) n.2131A>T c.1592A>T c.611A>T n.385A>T c.766A>T | |
5 | g.136056732G>A | CA361041774 | TGFBI | c.1615G>A (p.Val539Ile) n.2132G>A c.1593G>A c.612G>A n.386G>A c.767G>A | |
5 | g.136056732G>C | CA361041771 | TGFBI | c.1615G>C (p.Val539Leu) n.2132G>C c.1593G>C c.612G>C n.386G>C c.767G>C | |
5 | g.136056732G>T | CA361041773 | TGFBI | c.1615G>T (p.Val539Phe) n.2132G>T c.1593G>T c.612G>T n.386G>T c.767G>T | |
5 | g.136056733T>A | CA361041775 | TGFBI | c.1616T>A (p.Val539Asp) n.2133T>A c.1594T>A c.613T>A n.387T>A c.768T>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.136056733T>C | CA361041776 | TGFBI | c.1616T>C (p.Val539Ala) n.2133T>C c.1594T>C c.613T>C n.387T>C c.768T>C | gnomAD v4 |
5 | g.136056733T>G | CA361041777 | TGFBI | c.1616T>G (p.Val539Gly) n.2133T>G c.1594T>G c.613T>G n.387T>G c.768T>G | |
5 | g.136056733T= | CA1584798271 | TGFBI | c.1616T= (p.Val539=) n.2133T= c.1594T= c.613T= n.387T= c.768T= | |
5 | g.136056734C>A | CA446551855 | TGFBI | c.1617C>A (p.Val539=) n.2134C>A c.1595C>A c.614C>A n.388C>A c.769C>A | |
5 | g.136056734C>G | CA446551856 | TGFBI | c.1617C>G (p.Val539=) n.2134C>G c.1595C>G c.614C>G n.388C>G c.769C>G | gnomAD v4 |
5 | g.136056734C>T | CA446551857 | TGFBI | c.1617C>T (p.Val539=) n.2134C>T c.1595C>T c.614C>T n.388C>T c.769C>T | |
5 | g.136056735T>A | CA361041784 | TGFBI | c.1618T>A (p.Phe540Ile) n.2135T>A c.1596T>A c.615T>A n.389T>A c.770T>A | |
5 | g.136056735T>C | CA361041785 | TGFBI | c.1618T>C (p.Phe540Leu) n.2135T>C c.1596T>C c.615T>C n.389T>C c.770T>C | |
5 | g.136056735T>G | CA361041787 | TGFBI | c.1618T>G (p.Phe540Val) n.2135T>G c.1596T>G c.615T>G n.389T>G c.770T>G | |
5 | g.136056735_136056737del | CA2580072749 | TGFBI | c.1618_1620del (p.Phe540del) n.2135_2137del c.1596_1598del c.615_617del n.389_391del c.770_772del | ClinVar dbSNP |
5 | g.136056736T>A | CA361041789 | TGFBI | c.1619T>A (p.Phe540Tyr) n.2136T>A c.1597T>A c.616T>A n.390T>A c.771T>A | |
5 | g.136056736T>C | CA119126 | TGFBI | c.1619T>C (p.Phe540Ser) n.2136T>C c.1597T>C c.616T>C n.390T>C c.771T>C | ClinVar dbSNP |
5 | g.136056736T>G | CA361041794 | TGFBI | c.1619T>G (p.Phe540Cys) n.2136T>G c.1597T>G c.616T>G n.390T>G c.771T>G | |
5 | g.136056736T= | CA1584798276 | TGFBI | c.1619T= (p.Phe540=) n.2136T= c.1597T= c.616T= n.390T= c.771T= | |
5 | g.136056737T>A | CA361041795 | TGFBI | c.1620T>A (p.Phe540Leu) n.2137T>A c.1598T>A c.617T>A n.391T>A c.772T>A | |
5 | g.136056737T>C | CA3420468 | TGFBI | c.1620T>C (p.Phe540=) n.2137T>C c.1598T>C c.617T>C n.391T>C c.772T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136056737T>G | CA361041798 | TGFBI | c.1620T>G (p.Phe540Leu) n.2137T>G c.1598T>G c.617T>G n.391T>G c.772T>G | gnomAD v4 |
5 | g.136056737T= | CA1584798283 | TGFBI | c.1620T= (p.Phe540=) n.2137T= c.1598T= c.617T= n.391T= c.772T= |