Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.136056646T>GCA1584798124TGFBIc.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
5g.136056646T=CA1584798126TGFBIc.1548-19T= (n.1548-19T=)
n.2065-19T=
c.1526-19T=
c.545-19T=
n.319-19T=
c.700-19T=
5g.136056647C=CA1584798128TGFBIc.1548-18C= (n.1548-18C=)
n.2065-18C=
c.1526-18C=
c.545-18C=
n.319-18C=
c.700-18C=
5g.136056647C>TCA3420452TGFBIc.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
5g.136056655_136056656delCA2675398175TGFBIc.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
5g.136056653_136056656delCA2675398176TGFBIc.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
5g.136056649G>ACA2675398179TGFBIc.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
5g.136056649G>CCA1584798131TGFBIc.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
5g.136056649G=CA1584798130TGFBIc.1548-16G= (n.1548-16G=)
n.2065-16G=
c.1526-16G=
c.545-16G=
n.319-16G=
c.700-16G=
5g.136056650T>CCA1584798133TGFBIc.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
5g.136056650T=CA1584798132TGFBIc.1548-15T= (n.1548-15T=)
n.2065-15T=
c.1526-15T=
c.545-15T=
n.319-15T=
c.700-15T=
5g.136056651G>ACA3420453TGFBIc.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
5g.136056651G>CCA2675398185TGFBIc.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
5g.136056651G=CA1584798135TGFBIc.1548-14G= (n.1548-14G=)
n.2065-14G=
c.1526-14G=
c.545-14G=
n.319-14G=
c.700-14G=
5g.136056652T>CCA3420454TGFBIc.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
5g.136056652T=CA1584798137TGFBIc.1548-13T= (n.1548-13T=)
n.2065-13T=
c.1526-13T=
c.545-13T=
n.319-13T=
c.700-13T=
5g.136056653G>CCA3420455TGFBIc.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
5g.136056653G=CA1584798140TGFBIc.1548-12G= (n.1548-12G=)
n.2065-12G=
c.1526-12G=
c.545-12G=
n.319-12G=
c.700-12G=
5g.136056654T>CCA563254367TGFBIc.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
5g.136056654T=CA1584798142TGFBIc.1548-11T= (n.1548-11T=)
n.2065-11T=
c.1526-11T=
c.545-11T=
n.319-11T=
c.700-11T=
5g.136056656T>CCA1584798145TGFBIc.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
5g.136056656T=CA1584798144TGFBIc.1548-9T= (n.1548-9T=)
n.2065-9T=
c.1526-9T=
c.545-9T=
n.319-9T=
c.700-9T=
5g.136056658T>CCA3420456TGFBIc.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
5g.136056658T=CA1584798147TGFBIc.1548-7T= (n.1548-7T=)
n.2065-7T=
c.1526-7T=
c.545-7T=
n.319-7T=
c.700-7T=
5g.136056659C>ACA3420457TGFBIc.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
5g.136056659C=CA1584798153TGFBIc.1548-6C= (n.1548-6C=)
n.2065-6C=
c.1526-6C=
c.545-6C=
n.319-6C=
c.700-6C=
5g.136056659_136056660delinsCTCA1584798152TGFBIc.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
5g.136056660delCA3420458TGFBIc.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
5g.136056660T>CCA2675398195TGFBIc.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
5g.136056662C=CA1584798158TGFBIc.1548-3C= (n.1548-3C=)
n.2065-3C=
c.1526-3C=
c.545-3C=
n.319-3C=
c.700-3C=
5g.136056662C>TCA563254368TGFBIc.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
5g.136056663A=CA1584798161TGFBIc.1548-2A= (n.1548-2A=)
n.2065-2A=
c.1526-2A=
c.545-2A=
n.319-2A=
c.700-2A=
5g.136056663A>CCA361041154TGFBIc.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
5g.136056663A>GCA361041156TGFBIc.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
5g.136056663A>TCA361041157TGFBIc.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
5g.136056664G>ACA361041161TGFBIc.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
5g.136056664G>CCA361041164TGFBIc.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
5g.136056664G>TCA361041166TGFBIc.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
5g.136056665C>ACA361041174TGFBIc.1548C>A (p.Ser516Arg)
n.2065C>A
c.1526C>A
c.545C>A
n.319C>A
c.700C>A
5g.136056665C>GCA361041180TGFBIc.1548C>G (p.Ser516Arg)
n.2065C>G
c.1526C>G
c.545C>G
n.319C>G
c.700C>G
5g.136056665C>TCA446551803TGFBIc.1548C>T (p.Ser516=)
n.2065C>T
c.1526C>T
c.545C>T
n.319C>T
c.700C>T
5g.136056666A=CA1584798164TGFBIc.1549A= (p.Met517=)
n.2066A=
c.1527A=
c.546A=
n.320A=
c.701A=
5g.136056666A>CCA128058980TGFBIc.1549A>C (p.Met517Leu)
n.2066A>C
c.1527A>C
c.546A>C
n.320A>C
c.701A>C
 dbSNP gnomAD v4
5g.136056666A>GCA361041195TGFBIc.1549A>G (p.Met517Val)
n.2066A>G
c.1527A>G
c.546A>G
n.320A>G
c.701A>G
 dbSNP gnomAD v4
5g.136056666A>TCA361041194TGFBIc.1549A>T (p.Met517Leu)
n.2066A>T
c.1527A>T
c.546A>T
n.320A>T
c.701A>T
5g.136056667T>ACA361041197TGFBIc.1550T>A (p.Met517Lys)
n.2067T>A
c.1528T>A
c.547T>A
n.321T>A
c.702T>A
5g.136056667T>CCA361041204TGFBIc.1550T>C (p.Met517Thr)
n.2067T>C
c.1528T>C
c.547T>C
n.321T>C
c.702T>C
5g.136056667T>GCA361041200TGFBIc.1550T>G (p.Met517Arg)
n.2067T>G
c.1528T>G
c.547T>G
n.321T>G
c.702T>G
5g.136056668G>ACA361041211TGFBIc.1551G>A (p.Met517Ile)
n.2068G>A
c.1529G>A
c.548G>A
n.322G>A
c.703G>A
5g.136056668G>CCA361041227TGFBIc.1551G>C (p.Met517Ile)
n.2068G>C
c.1529G>C
c.548G>C
n.322G>C
c.703G>C
5g.136056668G>TCA361041219TGFBIc.1551G>T (p.Met517Ile)
n.2068G>T
c.1529G>T
c.548G>T
n.322G>T
c.703G>T
5g.136056669C>ACA361041230TGFBIc.1552C>A (p.Leu518Met)
n.2069C>A
c.1530C>A
c.549C>A
n.323C>A
c.704C>A
5g.136056669C=CA1584798167TGFBIc.1552C= (p.Leu518=)
n.2069C=
c.1530C=
c.549C=
n.323C=
c.704C=
5g.136056669C>GCA361041236TGFBIc.1552C>G (p.Leu518Val)
n.2069C>G
c.1530C>G
c.549C>G
n.323C>G
c.704C>G
5g.136056669C>TCA3420459TGFBIc.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
5g.136056670T>ACA361041245TGFBIc.1553T>A (p.Leu518Gln)
n.2070T>A
c.1531T>A
c.550T>A
n.324T>A
c.705T>A
5g.136056670T>CCA361041257TGFBIc.1553T>C (p.Leu518Pro)
n.2070T>C
c.1531T>C
c.550T>C
n.324T>C
c.705T>C
5g.136056670T>GCA361041259TGFBIc.1553T>G (p.Leu518Arg)
n.2070T>G
c.1531T>G
c.550T>G
n.324T>G
c.705T>G
5g.136056671G>ACA446551804TGFBIc.1554G>A (p.Leu518=)
n.2071G>A
c.1532G>A
c.551G>A
n.325G>A
c.706G>A
 gnomAD v4
5g.136056671G>CCA446551805TGFBIc.1554G>C (p.Leu518=)
n.2071G>C
c.1532G>C
c.551G>C
n.325G>C
c.706G>C
5g.136056671G>TCA446551806TGFBIc.1554G>T (p.Leu518=)
n.2071G>T
c.1532G>T
c.551G>T
n.325G>T
c.706G>T
5g.136056672G>ACA361041264TGFBIc.1555G>A (p.Val519Ile)
n.2072G>A
c.1533G>A
c.552G>A
n.326G>A
c.707G>A
5g.136056672G>CCA361041271TGFBIc.1555G>C (p.Val519Leu)
n.2072G>C
c.1533G>C
c.552G>C
n.326G>C
c.707G>C
5g.136056672G>TCA361041273TGFBIc.1555G>T (p.Val519Leu)
n.2072G>T
c.1533G>T
c.552G>T
n.326G>T
c.707G>T
5g.136056673T>ACA361041277TGFBIc.1556T>A (p.Val519Glu)
n.2073T>A
c.1534T>A
c.553T>A
n.327T>A
c.708T>A
5g.136056673T>CCA361041279TGFBIc.1556T>C (p.Val519Ala)
n.2073T>C
c.1534T>C
c.553T>C
n.327T>C
c.708T>C
5g.136056673T>GCA361041283TGFBIc.1556T>G (p.Val519Gly)
n.2073T>G
c.1534T>G
c.553T>G
n.327T>G
c.708T>G
 dbSNP
5g.136056673delinsGAGGCA2695205178TGFBIc.1556delinsGAGG (p.Val519delinsGlyGly)
n.2073delinsGAGG
c.1534delinsGAGG
c.553delinsGAGG
n.327delinsGAGG
c.708delinsGAGG
5g.136056674A=CA1584798169TGFBIc.1557A= (p.Val519=)
n.2074A=
c.1535A=
c.554A=
n.328A=
c.709A=
5g.136056674A>CCA446551807TGFBIc.1557A>C (p.Val519=)
n.2074A>C
c.1535A>C
c.554A>C
n.328A>C
c.709A>C
 dbSNP gnomAD v2 gnomAD v4
5g.136056674A>GCA446551808TGFBIc.1557A>G (p.Val519=)
n.2074A>G
c.1535A>G
c.554A>G
n.328A>G
c.709A>G
5g.136056674A>TCA446551809TGFBIc.1557A>T (p.Val519=)
n.2074A>T
c.1535A>T
c.554A>T
n.328A>T
c.709A>T
5g.136056675G>ACA361041289TGFBIc.1558G>A (p.Ala520Thr)
n.2075G>A
c.1536G>A
c.555G>A
n.329G>A
c.710G>A
5g.136056675G>CCA361041290TGFBIc.1558G>C (p.Ala520Pro)
n.2075G>C
c.1536G>C
c.555G>C
n.329G>C
c.710G>C
5g.136056675G>TCA361041291TGFBIc.1558G>T (p.Ala520Ser)
n.2075G>T
c.1536G>T
c.555G>T
n.329G>T
c.710G>T
5g.136056676C>ACA361041296TGFBIc.1559C>A (p.Ala520Asp)
n.2076C>A
c.1537C>A
c.556C>A
n.330C>A
c.711C>A
5g.136056676C=CA1584798171TGFBIc.1559C= (p.Ala520=)
n.2076C=
c.1537C=
c.556C=
n.330C=
c.711C=
5g.136056676C>GCA361041302TGFBIc.1559C>G (p.Ala520Gly)
n.2076C>G
c.1537C>G
c.556C>G
n.330C>G
c.711C>G
5g.136056676C>TCA361041300TGFBIc.1559C>T (p.Ala520Val)
n.2076C>T
c.1537C>T
c.556C>T
n.330C>T
c.711C>T
 dbSNP gnomAD v2 gnomAD v4
5g.136056677T>ACA446551810TGFBIc.1560T>A (p.Ala520=)
n.2077T>A
c.1538T>A
c.557T>A
n.331T>A
c.712T>A
5g.136056677T>CCA446551811TGFBIc.1560T>C (p.Ala520=)
n.2077T>C
c.1538T>C
c.557T>C
n.331T>C
c.712T>C
5g.136056677T>GCA446551812TGFBIc.1560T>G (p.Ala520=)
n.2077T>G
c.1538T>G
c.557T>G
n.331T>G
c.712T>G
5g.136056678G>ACA361041307TGFBIc.1561G>A (p.Ala521Thr)
n.2078G>A
c.1539G>A
c.558G>A
n.332G>A
c.713G>A
5g.136056678G>CCA361041310TGFBIc.1561G>C (p.Ala521Pro)
n.2078G>C
c.1539G>C
c.558G>C
n.332G>C
c.713G>C
5g.136056678G>TCA361041316TGFBIc.1561G>T (p.Ala521Ser)
n.2078G>T
c.1539G>T
c.558G>T
n.332G>T
c.713G>T
 gnomAD v4
5g.136056679C>ACA361041322TGFBIc.1562C>A (p.Ala521Asp)
n.2079C>A
c.1540C>A
c.559C>A
n.333C>A
c.714C>A
5g.136056679C>GCA361041324TGFBIc.1562C>G (p.Ala521Gly)
n.2079C>G
c.1540C>G
c.559C>G
n.333C>G
c.714C>G
5g.136056679C>TCA361041329TGFBIc.1562C>T (p.Ala521Val)
n.2079C>T
c.1540C>T
c.559C>T
n.333C>T
c.714C>T
 gnomAD v4
5g.136056680C>ACA446551813TGFBIc.1563C>A (p.Ala521=)
n.2080C>A
c.1541C>A
c.560C>A
n.334C>A
c.715C>A
5g.136056680C=CA1584798174TGFBIc.1563C= (p.Ala521=)
n.2080C=
c.1541C=
c.560C=
n.334C=
c.715C=
5g.136056680C>GCA446551814TGFBIc.1563C>G (p.Ala521=)
n.2080C>G
c.1541C>G
c.560C>G
n.334C>G
c.715C>G
 gnomAD v4
5g.136056680C>TCA446551815TGFBIc.1563C>T (p.Ala521=)
n.2080C>T
c.1541C>T
c.560C>T
n.334C>T
c.715C>T
 dbSNP gnomAD v2 gnomAD v4
5g.136056681A=CA1584798178TGFBIc.1564A= (p.Ile522=)
n.2081A=
c.1542A=
c.561A=
n.335A=
c.716A=
5g.136056681A>CCA361041333TGFBIc.1564A>C (p.Ile522Leu)
n.2081A>C
c.1542A>C
c.561A>C
n.335A>C
c.716A>C
5g.136056681A>GCA361041337TGFBIc.1564A>G (p.Ile522Val)
n.2081A>G
c.1542A>G
c.561A>G
n.335A>G
c.716A>G
 dbSNP gnomAD v3 gnomAD v4
5g.136056681A>TCA361041340TGFBIc.1564A>T (p.Ile522Phe)
n.2081A>T
c.1542A>T
c.561A>T
n.335A>T
c.716A>T
5g.136056682T>ACA361041349TGFBIc.1565T>A (p.Ile522Asn)
n.2082T>A
c.1543T>A
c.562T>A
n.336T>A
c.717T>A
5g.136056682T>CCA361041360TGFBIc.1565T>C (p.Ile522Thr)
n.2082T>C
c.1543T>C
c.562T>C
n.336T>C
c.717T>C
5g.136056682T>GCA361041344TGFBIc.1565T>G (p.Ile522Ser)
n.2082T>G
c.1543T>G
c.562T>G
n.336T>G
c.717T>G
5g.136056683C>ACA446551816TGFBIc.1566C>A (p.Ile522=)
n.2083C>A
c.1544C>A
c.563C>A
n.337C>A
c.718C>A
 COSMIC
5g.136056683C=CA1584798181TGFBIc.1566C= (p.Ile522=)
n.2083C=
c.1544C=
c.563C=
n.337C=
c.718C=
5g.136056683C>GCA361041365TGFBIc.1566C>G (p.Ile522Met)
n.2083C>G
c.1544C>G
c.563C>G
n.337C>G
c.718C>G
5g.136056683C>TCA3420460TGFBIc.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
5g.136056684C>ACA361041367TGFBIc.1567C>A (p.Gln523Lys)
n.2084C>A
c.1545C>A
c.564C>A
n.338C>A
c.719C>A
5g.136056684C=CA1584798185TGFBIc.1567C= (p.Gln523=)
n.2084C=
c.1545C=
c.564C=
n.338C=
c.719C=
5g.136056684C>GCA361041371TGFBIc.1567C>G (p.Gln523Glu)
n.2084C>G
c.1545C>G
c.564C>G
n.338C>G
c.719C>G
5g.136056684C>TCA361041374TGFBIc.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
5g.136056685A=CA1584798190TGFBIc.1568A= (p.Gln523=)
n.2085A=
c.1546A=
c.565A=
n.339A=
c.720A=
5g.136056685A>CCA361041389TGFBIc.1568A>C (p.Gln523Pro)
n.2085A>C
c.1546A>C
c.565A>C
n.339A>C
c.720A>C
5g.136056685A>GCA361041380TGFBIc.1568A>G (p.Gln523Arg)
n.2085A>G
c.1546A>G
c.565A>G
n.339A>G
c.720A>G
5g.136056685A>TCA361041383TGFBIc.1568A>T (p.Gln523Leu)
n.2085A>T
c.1546A>T
c.565A>T
n.339A>T
c.720A>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056686G>ACA446551817TGFBIc.1569G>A (p.Gln523=)
n.2086G>A
c.1547G>A
c.566G>A
n.340G>A
c.721G>A
5g.136056686G>CCA361041395TGFBIc.1569G>C (p.Gln523His)
n.2086G>C
c.1547G>C
c.566G>C
n.340G>C
c.721G>C
 gnomAD v4 COSMIC COSMIC
5g.136056686G>TCA361041405TGFBIc.1569G>T (p.Gln523His)
n.2086G>T
c.1547G>T
c.566G>T
n.340G>T
c.721G>T
5g.136056687T>ACA361041409TGFBIc.1570T>A (p.Ser524Thr)
n.2087T>A
c.1548T>A
c.567T>A
n.341T>A
c.722T>A
5g.136056687T>CCA361041413TGFBIc.1570T>C (p.Ser524Pro)
n.2087T>C
c.1548T>C
c.567T>C
n.341T>C
c.722T>C
 dbSNP
5g.136056687T>GCA361041415TGFBIc.1570T>G (p.Ser524Ala)
n.2087T>G
c.1548T>G
c.567T>G
n.341T>G
c.722T>G
5g.136056687T=CA1584798193TGFBIc.1570T= (p.Ser524=)
n.2087T=
c.1548T=
c.567T=
n.341T=
c.722T=
5g.136056688C>ACA361041422TGFBIc.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
5g.136056688C=CA1584798196TGFBIc.1571C= (p.Ser524=)
n.2088C=
c.1549C=
c.568C=
n.342C=
c.723C=
5g.136056688C>GCA361041432TGFBIc.1571C>G (p.Ser524Cys)
n.2088C>G
c.1549C>G
c.568C>G
n.342C>G
c.723C>G
5g.136056688C>TCA361041425TGFBIc.1571C>T (p.Ser524Phe)
n.2088C>T
c.1549C>T
c.568C>T
n.342C>T
c.723C>T
5g.136056689T>ACA446551820TGFBIc.1572T>A (p.Ser524=)
n.2089T>A
c.1550T>A
c.569T>A
n.343T>A
c.724T>A
5g.136056689T>CCA446551818TGFBIc.1572T>C (p.Ser524=)
n.2089T>C
c.1550T>C
c.569T>C
n.343T>C
c.724T>C
5g.136056689T>GCA446551819TGFBIc.1572T>G (p.Ser524=)
n.2089T>G
c.1550T>G
c.569T>G
n.343T>G
c.724T>G
5g.136056690G>ACA361041441TGFBIc.1573G>A (p.Ala525Thr)
n.2090G>A
c.1551G>A
c.570G>A
n.344G>A
c.725G>A
5g.136056690G>CCA361041443TGFBIc.1573G>C (p.Ala525Pro)
n.2090G>C
c.1551G>C
c.570G>C
n.344G>C
c.725G>C
5g.136056690G>TCA361041447TGFBIc.1573G>T (p.Ala525Ser)
n.2090G>T
c.1551G>T
c.570G>T
n.344G>T
c.725G>T
5g.136056691C>ACA361041452TGFBIc.1574C>A (p.Ala525Glu)
n.2091C>A
c.1552C>A
c.571C>A
n.345C>A
c.726C>A
5g.136056691C=CA1584798202TGFBIc.1574C= (p.Ala525=)
n.2091C=
c.1552C=
c.571C=
n.345C=
c.726C=
5g.136056691C>GCA361041456TGFBIc.1574C>G (p.Ala525Gly)
n.2091C>G
c.1552C>G
c.571C>G
n.345C>G
c.726C>G
5g.136056691C>TCA361041458TGFBIc.1574C>T (p.Ala525Val)
n.2091C>T
c.1552C>T
c.571C>T
n.345C>T
c.726C>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056692A>CCA446551821TGFBIc.1575A>C (p.Ala525=)
n.2092A>C
c.1553A>C
c.572A>C
n.346A>C
c.727A>C
 gnomAD v4
5g.136056692A>GCA446551822TGFBIc.1575A>G (p.Ala525=)
n.2092A>G
c.1553A>G
c.572A>G
n.346A>G
c.727A>G
5g.136056692A>TCA446551823TGFBIc.1575A>T (p.Ala525=)
n.2092A>T
c.1553A>T
c.572A>T
n.346A>T
c.727A>T
5g.136056693G>ACA361041460TGFBIc.1576G>A (p.Gly526Arg)
n.2093G>A
c.1554G>A
c.573G>A
n.347G>A
c.728G>A
5g.136056693G>CCA361041464TGFBIc.1576G>C (p.Gly526Arg)
n.2093G>C
c.1554G>C
c.573G>C
n.347G>C
c.728G>C
5g.136056693G>TCA361041467TGFBIc.1576G>T (p.Gly526Ter)
n.2093G>T
c.1554G>T
c.573G>T
n.347G>T
c.728G>T
5g.136056694G>ACA361041471TGFBIc.1577G>A (p.Gly526Glu)
n.2094G>A
c.1555G>A
c.574G>A
n.348G>A
c.729G>A
5g.136056694G>CCA361041477TGFBIc.1577G>C (p.Gly526Ala)
n.2094G>C
c.1555G>C
c.574G>C
n.348G>C
c.729G>C
5g.136056694G>TCA361041487TGFBIc.1577G>T (p.Gly526Val)
n.2094G>T
c.1555G>T
c.574G>T
n.348G>T
c.729G>T
5g.136056695A>CCA446551826TGFBIc.1578A>C (p.Gly526=)
n.2095A>C
c.1556A>C
c.575A>C
n.349A>C
c.730A>C
5g.136056695A>GCA446551824TGFBIc.1578A>G (p.Gly526=)
n.2095A>G
c.1556A>G
c.575A>G
n.349A>G
c.730A>G
5g.136056695A>TCA446551825TGFBIc.1578A>T (p.Gly526=)
n.2095A>T
c.1556A>T
c.575A>T
n.349A>T
c.730A>T
5g.136056696C>ACA361041491TGFBIc.1579C>A (p.Leu527Met)
n.2096C>A
c.1557C>A
c.576C>A
n.350C>A
c.731C>A
 dbSNP gnomAD v2 gnomAD v4
5g.136056696C=CA1584798206TGFBIc.1579C= (p.Leu527=)
n.2096C=
c.1557C=
c.576C=
n.350C=
c.731C=
5g.136056696C>GCA361041496TGFBIc.1579C>G (p.Leu527Val)
n.2096C>G
c.1557C>G
c.576C>G
n.350C>G
c.731C>G
5g.136056696C>TCA446551827TGFBIc.1579C>T (p.Leu527=)
n.2096C>T
c.1557C>T
c.576C>T
n.350C>T
c.731C>T
5g.136056697T>ACA361041501TGFBIc.1580T>A (p.Leu527Gln)
n.2097T>A
c.1558T>A
c.577T>A
n.351T>A
c.732T>A
5g.136056697T>CCA361041506TGFBIc.1580T>C (p.Leu527Pro)
n.2097T>C
c.1558T>C
c.577T>C
n.351T>C
c.732T>C
 gnomAD v4
5g.136056697T>GCA128058989TGFBIc.1580T>G (p.Leu527Arg)
n.2097T>G
c.1558T>G
c.577T>G
n.351T>G
c.732T>G
 dbSNP gnomAD v4
5g.136056697T=CA1584798209TGFBIc.1580T= (p.Leu527=)
n.2097T=
c.1558T=
c.577T=
n.351T=
c.732T=
5g.136056698G>ACA446551828TGFBIc.1581G>A (p.Leu527=)
n.2098G>A
c.1559G>A
c.578G>A
n.352G>A
c.733G>A
5g.136056698G>CCA446551829TGFBIc.1581G>C (p.Leu527=)
n.2098G>C
c.1559G>C
c.578G>C
n.352G>C
c.733G>C
5g.136056698G>TCA446551830TGFBIc.1581G>T (p.Leu527=)
n.2098G>T
c.1559G>T
c.578G>T
n.352G>T
c.733G>T
5g.136056699A>CCA361041516TGFBIc.1582A>C (p.Thr528Pro)
n.2099A>C
c.1560A>C
c.579A>C
n.353A>C
c.734A>C
5g.136056699A>GCA361041521TGFBIc.1582A>G (p.Thr528Ala)
n.2099A>G
c.1560A>G
c.579A>G
n.353A>G
c.734A>G
5g.136056699A>TCA361041527TGFBIc.1582A>T (p.Thr528Ser)
n.2099A>T
c.1560A>T
c.579A>T
n.353A>T
c.734A>T
5g.136056700C>ACA361041533TGFBIc.1583C>A (p.Thr528Lys)
n.2100C>A
c.1561C>A
c.580C>A
n.354C>A
c.735C>A
5g.136056700C=CA1584798213TGFBIc.1583C= (p.Thr528=)
n.2100C=
c.1561C=
c.580C=
n.354C=
c.735C=
5g.136056700C>GCA361041535TGFBIc.1583C>G (p.Thr528Arg)
n.2100C>G
c.1561C>G
c.580C>G
n.354C>G
c.735C>G
5g.136056700C>TCA3420461TGFBIc.1583C>T (p.Thr528Met)
n.2100C>T
c.1561C>T
c.580C>T
n.354C>T
c.735C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.136056701G>ACA3420462TGFBIc.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
5g.136056701G>CCA446551831TGFBIc.1584G>C (p.Thr528=)
n.2101G>C
c.1562G>C
c.581G>C
n.355G>C
c.736G>C
5g.136056701G=CA1584798218TGFBIc.1584G= (p.Thr528=)
n.2101G=
c.1562G=
c.581G=
n.355G=
c.736G=
5g.136056701G>TCA446551832TGFBIc.1584G>T (p.Thr528=)
n.2101G>T
c.1562G>T
c.581G>T
n.355G>T
c.736G>T
5g.136056702G>ACA361041542TGFBIc.1585G>A (p.Glu529Lys)
n.2102G>A
c.1563G>A
c.582G>A
n.356G>A
c.737G>A
 COSMIC
5g.136056702G>CCA361041543TGFBIc.1585G>C (p.Glu529Gln)
n.2102G>C
c.1563G>C
c.582G>C
n.356G>C
c.737G>C
5g.136056702G>TCA361041544TGFBIc.1585G>T (p.Glu529Ter)
n.2102G>T
c.1563G>T
c.582G>T
n.356G>T
c.737G>T
5g.136056703A=CA1584798223TGFBIc.1586A= (p.Glu529=)
n.2103A=
c.1564A=
c.583A=
n.357A=
c.738A=
5g.136056703A>CCA361041564TGFBIc.1586A>C (p.Glu529Ala)
n.2103A>C
c.1564A>C
c.583A>C
n.357A>C
c.738A>C
5g.136056703A>GCA3420463TGFBIc.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
5g.136056703A>TCA361041549TGFBIc.1586A>T (p.Glu529Val)
n.2103A>T
c.1564A>T
c.583A>T
n.357A>T
c.738A>T
5g.136056704G>ACA446551833TGFBIc.1587G>A (p.Glu529=)
n.2104G>A
c.1565G>A
c.584G>A
n.358G>A
c.739G>A
5g.136056704G>CCA361041574TGFBIc.1587G>C (p.Glu529Asp)
n.2104G>C
c.1565G>C
c.584G>C
n.358G>C
c.739G>C
5g.136056704G=CA1584798227TGFBIc.1587G= (p.Glu529=)
n.2104G=
c.1565G=
c.584G=
n.358G=
c.739G=
5g.136056704G>TCA128058995TGFBIc.1587G>T (p.Glu529Asp)
n.2104G>T
c.1565G>T
c.584G>T
n.358G>T
c.739G>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056705A=CA1584798230TGFBIc.1588A= (p.Thr530=)
n.2105A=
c.1566A=
c.585A=
n.359A=
c.740A=
5g.136056705A>CCA361041583TGFBIc.1588A>C (p.Thr530Pro)
n.2105A>C
c.1566A>C
c.585A>C
n.359A>C
c.740A>C
5g.136056705A>GCA361041588TGFBIc.1588A>G (p.Thr530Ala)
n.2105A>G
c.1566A>G
c.585A>G
n.359A>G
c.740A>G
5g.136056705A>TCA361041591TGFBIc.1588A>T (p.Thr530Ser)
n.2105A>T
c.1566A>T
c.585A>T
n.359A>T
c.740A>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056706C>ACA361041592TGFBIc.1589C>A (p.Thr530Asn)
n.2106C>A
c.1567C>A
c.586C>A
n.360C>A
c.741C>A
5g.136056706C>GCA361041593TGFBIc.1589C>G (p.Thr530Ser)
n.2106C>G
c.1567C>G
c.586C>G
n.360C>G
c.741C>G
5g.136056706C>TCA361041594TGFBIc.1589C>T (p.Thr530Ile)
n.2106C>T
c.1567C>T
c.586C>T
n.360C>T
c.741C>T
5g.136056707C>ACA446551834TGFBIc.1590C>A (p.Thr530=)
n.2107C>A
c.1568C>A
c.587C>A
n.361C>A
c.742C>A
5g.136056707C>GCA446551835TGFBIc.1590C>G (p.Thr530=)
n.2107C>G
c.1568C>G
c.587C>G
n.361C>G
c.742C>G
5g.136056707C>TCA446551836TGFBIc.1590C>T (p.Thr530=)
n.2107C>T
c.1568C>T
c.587C>T
n.361C>T
c.742C>T
 gnomAD v4
5g.136056708C>ACA361041596TGFBIc.1591C>A (p.Leu531Ile)
n.2108C>A
c.1569C>A
c.588C>A
n.362C>A
c.743C>A
5g.136056708C=CA1584798231TGFBIc.1591C= (p.Leu531=)
n.2108C=
c.1569C=
c.588C=
n.362C=
c.743C=
5g.136056708C>GCA3420464TGFBIc.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
5g.136056708C>TCA361041600TGFBIc.1591C>T (p.Leu531Phe)
n.2108C>T
c.1569C>T
c.588C>T
n.362C>T
c.743C>T
5g.136056709T>ACA361041604TGFBIc.1592T>A (p.Leu531His)
n.2109T>A
c.1570T>A
c.589T>A
n.363T>A
c.744T>A
5g.136056709T>CCA361041607TGFBIc.1592T>C (p.Leu531Pro)
n.2109T>C
c.1570T>C
c.589T>C
n.363T>C
c.744T>C
5g.136056709T>GCA361041601TGFBIc.1592T>G (p.Leu531Arg)
n.2109T>G
c.1570T>G
c.589T>G
n.363T>G
c.744T>G
5g.136056710C>ACA446551837TGFBIc.1593C>A (p.Leu531=)
n.2110C>A
c.1571C>A
c.590C>A
n.364C>A
c.745C>A
5g.136056710C=CA1584798235TGFBIc.1593C= (p.Leu531=)
n.2110C=
c.1571C=
c.590C=
n.364C=
c.745C=
5g.136056710C>GCA446551838TGFBIc.1593C>G (p.Leu531=)
n.2110C>G
c.1571C>G
c.590C>G
n.364C>G
c.745C>G
5g.136056710C>TCA446551839TGFBIc.1593C>T (p.Leu531=)
n.2110C>T
c.1571C>T
c.590C>T
n.364C>T
c.745C>T
 dbSNP gnomAD v4
5g.136056711A>CCA361041613TGFBIc.1594A>C (p.Asn532His)
n.2111A>C
c.1572A>C
c.591A>C
n.365A>C
c.746A>C
5g.136056711A>GCA361041616TGFBIc.1594A>G (p.Asn532Asp)
n.2111A>G
c.1572A>G
c.591A>G
n.365A>G
c.746A>G
5g.136056711A>TCA361041617TGFBIc.1594A>T (p.Asn532Tyr)
n.2111A>T
c.1572A>T
c.591A>T
n.365A>T
c.746A>T
5g.136056712A=CA1584798237TGFBIc.1595A= (p.Asn532=)
n.2112A=
c.1573A=
c.592A=
n.366A=
c.747A=
5g.136056712A>CCA361041619TGFBIc.1595A>C (p.Asn532Thr)
n.2112A>C
c.1573A>C
c.592A>C
n.366A>C
c.747A>C
5g.136056712A>GCA361041623TGFBIc.1595A>G (p.Asn532Ser)
n.2112A>G
c.1573A>G
c.592A>G
n.366A>G
c.747A>G
 dbSNP gnomAD v4
5g.136056712A>TCA361041626TGFBIc.1595A>T (p.Asn532Ile)
n.2112A>T
c.1573A>T
c.592A>T
n.366A>T
c.747A>T
5g.136056713C>ACA361041631TGFBIc.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
5g.136056713C=CA1584798240TGFBIc.1596C= (p.Asn532=)
n.2113C=
c.1574C=
c.593C=
n.367C=
c.748C=
5g.136056713C>GCA361041630TGFBIc.1596C>G (p.Asn532Lys)
n.2113C>G
c.1574C>G
c.593C>G
n.367C>G
c.748C>G
5g.136056713C>TCA446551840TGFBIc.1596C>T (p.Asn532=)
n.2113C>T
c.1574C>T
c.593C>T
n.367C>T
c.748C>T
5g.136056714C>ACA3420465TGFBIc.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
5g.136056714C=CA1584798243TGFBIc.1597C= (p.Arg533=)
n.2114C=
c.1575C=
c.594C=
n.368C=
c.749C=
5g.136056714C>GCA361041634TGFBIc.1597C>G (p.Arg533Gly)
n.2114C>G
c.1575C>G
c.594C>G
n.368C>G
c.749C>G
5g.136056714C>TCA361041640TGFBIc.1597C>T (p.Arg533Trp)
n.2114C>T
c.1575C>T
c.594C>T
n.368C>T
c.749C>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056715G>ACA3420466TGFBIc.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
5g.136056715G>CCA361041646TGFBIc.1598G>C (p.Arg533Pro)
n.2115G>C
c.1576G>C
c.595G>C
n.369G>C
c.750G>C
5g.136056715G=CA1584798245TGFBIc.1598G= (p.Arg533=)
n.2115G=
c.1576G=
c.595G=
n.369G=
c.750G=
5g.136056715G>TCA3420467TGFBIc.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
5g.136056716G>ACA446551841TGFBIc.1599G>A (p.Arg533=)
n.2116G>A
c.1577G>A
c.596G>A
n.370G>A
c.751G>A
 gnomAD v4
5g.136056716G>CCA446551843TGFBIc.1599G>C (p.Arg533=)
n.2116G>C
c.1577G>C
c.596G>C
n.370G>C
c.751G>C
5g.136056716G>TCA446551842TGFBIc.1599G>T (p.Arg533=)
n.2116G>T
c.1577G>T
c.596G>T
n.370G>T
c.751G>T
5g.136056717G>ACA361041647TGFBIc.1600G>A (p.Glu534Lys)
n.2117G>A
c.1578G>A
c.597G>A
n.371G>A
c.752G>A
 dbSNP gnomAD v2 gnomAD v4
5g.136056717G>CCA361041654TGFBIc.1600G>C (p.Glu534Gln)
n.2117G>C
c.1578G>C
c.597G>C
n.371G>C
c.752G>C
5g.136056717G=CA1584798248TGFBIc.1600G= (p.Glu534=)
n.2117G=
c.1578G=
c.597G=
n.371G=
c.752G=
5g.136056717G>TCA361041649TGFBIc.1600G>T (p.Glu534Ter)
n.2117G>T
c.1578G>T
c.597G>T
n.371G>T
c.752G>T
5g.136056718A>CCA361041658TGFBIc.1601A>C (p.Glu534Ala)
n.2118A>C
c.1579A>C
c.598A>C
n.372A>C
c.753A>C
5g.136056718A>GCA361041661TGFBIc.1601A>G (p.Glu534Gly)
n.2118A>G
c.1579A>G
c.598A>G
n.372A>G
c.753A>G
 gnomAD v4
5g.136056718A>TCA361041662TGFBIc.1601A>T (p.Glu534Val)
n.2118A>T
c.1579A>T
c.598A>T
n.372A>T
c.753A>T
5g.136056719A>CCA361041663TGFBIc.1602A>C (p.Glu534Asp)
n.2119A>C
c.1580A>C
c.599A>C
n.373A>C
c.754A>C
5g.136056719A>GCA446551844TGFBIc.1602A>G (p.Glu534=)
n.2119A>G
c.1580A>G
c.599A>G
n.373A>G
c.754A>G
5g.136056719A>TCA361041665TGFBIc.1602A>T (p.Glu534Asp)
n.2119A>T
c.1580A>T
c.599A>T
n.373A>T
c.754A>T
5g.136056720G>ACA361041670TGFBIc.1603G>A (p.Gly535Arg)
n.2120G>A
c.1581G>A
c.600G>A
n.374G>A
c.755G>A
 dbSNP gnomAD v2 gnomAD v4
5g.136056720G>CCA361041673TGFBIc.1603G>C (p.Gly535Arg)
n.2120G>C
c.1581G>C
c.600G>C
n.374G>C
c.755G>C
5g.136056720G=CA1584798250TGFBIc.1603G= (p.Gly535=)
n.2120G=
c.1581G=
c.600G=
n.374G=
c.755G=
5g.136056720G>TCA361041682TGFBIc.1603G>T (p.Gly535Ter)
n.2120G>T
c.1581G>T
c.600G>T
n.374G>T
c.755G>T
5g.136056721G>ACA361041690TGFBIc.1604G>A (p.Gly535Glu)
n.2121G>A
c.1582G>A
c.601G>A
n.375G>A
c.756G>A
 COSMIC
5g.136056721G>CCA361041693TGFBIc.1604G>C (p.Gly535Ala)
n.2121G>C
c.1582G>C
c.601G>C
n.375G>C
c.756G>C
5g.136056721G>TCA361041700TGFBIc.1604G>T (p.Gly535Val)
n.2121G>T
c.1582G>T
c.601G>T
n.375G>T
c.756G>T
5g.136056722A>CCA446551845TGFBIc.1605A>C (p.Gly535=)
n.2122A>C
c.1583A>C
c.602A>C
n.376A>C
c.757A>C
 gnomAD v4
5g.136056722A>GCA446551846TGFBIc.1605A>G (p.Gly535=)
n.2122A>G
c.1583A>G
c.602A>G
n.376A>G
c.757A>G
 gnomAD v3 gnomAD v4
5g.136056722A>TCA446551847TGFBIc.1605A>T (p.Gly535=)
n.2122A>T
c.1583A>T
c.602A>T
n.376A>T
c.757A>T
5g.136056723G>ACA361041713TGFBIc.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
5g.136056723G>CCA361041712TGFBIc.1606G>C (p.Val536Leu)
n.2123G>C
c.1584G>C
c.603G>C
n.377G>C
c.758G>C
5g.136056723G=CA1584798253TGFBIc.1606G= (p.Val536=)
n.2123G=
c.1584G=
c.603G=
n.377G=
c.758G=
5g.136056723G>TCA361041709TGFBIc.1606G>T (p.Val536Phe)
n.2123G>T
c.1584G>T
c.603G>T
n.377G>T
c.758G>T
5g.136056724T>ACA361041714TGFBIc.1607T>A (p.Val536Asp)
n.2124T>A
c.1585T>A
c.604T>A
n.378T>A
c.759T>A
5g.136056724T>CCA361041725TGFBIc.1607T>C (p.Val536Ala)
n.2124T>C
c.1585T>C
c.604T>C
n.378T>C
c.759T>C
 COSMIC COSMIC
5g.136056724T>GCA361041719TGFBIc.1607T>G (p.Val536Gly)
n.2124T>G
c.1585T>G
c.604T>G
n.378T>G
c.759T>G
5g.136056725C>ACA446551848TGFBIc.1608C>A (p.Val536=)
n.2125C>A
c.1586C>A
c.605C>A
n.379C>A
c.760C>A
5g.136056725C=CA1584798255TGFBIc.1608C= (p.Val536=)
n.2125C=
c.1586C=
c.605C=
n.379C=
c.760C=
5g.136056725C>GCA446551849TGFBIc.1608C>G (p.Val536=)
n.2125C>G
c.1586C>G
c.605C>G
n.379C>G
c.760C>G
5g.136056725C>TCA446551850TGFBIc.1608C>T (p.Val536=)
n.2125C>T
c.1586C>T
c.605C>T
n.379C>T
c.760C>T
 dbSNP
5g.136056726T>ACA361041727TGFBIc.1609T>A (p.Tyr537Asn)
n.2126T>A
c.1587T>A
c.606T>A
n.380T>A
c.761T>A
5g.136056726T>CCA128059014TGFBIc.1609T>C (p.Tyr537His)
n.2126T>C
c.1587T>C
c.606T>C
n.380T>C
c.761T>C
 dbSNP
5g.136056726T>GCA361041734TGFBIc.1609T>G (p.Tyr537Asp)
n.2126T>G
c.1587T>G
c.606T>G
n.380T>G
c.761T>G
5g.136056726T=CA1584798257TGFBIc.1609T= (p.Tyr537=)
n.2126T=
c.1587T=
c.606T=
n.380T=
c.761T=
5g.136056726_136056728delinsTACCA1584798259TGFBIc.1609_1611delinsTAC (p.Tyr537=)
n.2126_2128delinsTAC
c.1587_1589delinsTAC
c.606_608delinsTAC
n.380_382delinsTAC
c.761_763delinsTAC
5g.136056727A>CCA361041742TGFBIc.1610A>C (p.Tyr537Ser)
n.2127A>C
c.1588A>C
c.607A>C
n.381A>C
c.762A>C
5g.136056727A>GCA361041743TGFBIc.1610A>G (p.Tyr537Cys)
n.2127A>G
c.1588A>G
c.607A>G
n.381A>G
c.762A>G
5g.136056727A>TCA361041745TGFBIc.1610A>T (p.Tyr537Phe)
n.2127A>T
c.1588A>T
c.607A>T
n.381A>T
c.762A>T
5g.136056730_136056731delCA1584798261TGFBIc.1613_1614del (p.Thr538SerfsTer7)
n.2130_2131del
c.1591_1592del
c.610_611del
n.384_385del
c.765_766del
 dbSNP
5g.136056728C>ACA361041753TGFBIc.1611C>A (p.Tyr537Ter)
n.2128C>A
c.1589C>A
c.608C>A
n.382C>A
c.763C>A
5g.136056728C=CA1584798264TGFBIc.1611C= (p.Tyr537=)
n.2128C=
c.1589C=
c.608C=
n.382C=
c.763C=
5g.136056728C>GCA361041751TGFBIc.1611C>G (p.Tyr537Ter)
n.2128C>G
c.1589C>G
c.608C>G
n.382C>G
c.763C>G
5g.136056728C>TCA446551851TGFBIc.1611C>T (p.Tyr537=)
n.2128C>T
c.1589C>T
c.608C>T
n.382C>T
c.763C>T
 ClinVar dbSNP
5g.136056729A>CCA361041756TGFBIc.1612A>C (p.Thr538Pro)
n.2129A>C
c.1590A>C
c.609A>C
n.383A>C
c.764A>C
 ClinVar dbSNP
5g.136056729A>GCA361041757TGFBIc.1612A>G (p.Thr538Ala)
n.2129A>G
c.1590A>G
c.609A>G
n.383A>G
c.764A>G
5g.136056729A>TCA361041761TGFBIc.1612A>T (p.Thr538Ser)
n.2129A>T
c.1590A>T
c.609A>T
n.383A>T
c.764A>T
5g.136056730C>ACA361041764TGFBIc.1613C>A (p.Thr538Lys)
n.2130C>A
c.1591C>A
c.610C>A
n.384C>A
c.765C>A
5g.136056730C=CA1584798268TGFBIc.1613C= (p.Thr538=)
n.2130C=
c.1591C=
c.610C=
n.384C=
c.765C=
5g.136056730C>GCA361041767TGFBIc.1613C>G (p.Thr538Arg)
n.2130C>G
c.1591C>G
c.610C>G
n.384C>G
c.765C>G
 gnomAD v4
5g.136056730C>TCA361041770TGFBIc.1613C>T (p.Thr538Ile)
n.2130C>T
c.1591C>T
c.610C>T
n.384C>T
c.765C>T
 dbSNP gnomAD v3 gnomAD v4
5g.136056731A>CCA446551852TGFBIc.1614A>C (p.Thr538=)
n.2131A>C
c.1592A>C
c.611A>C
n.385A>C
c.766A>C
5g.136056731A>GCA446551853TGFBIc.1614A>G (p.Thr538=)
n.2131A>G
c.1592A>G
c.611A>G
n.385A>G
c.766A>G
 gnomAD v4
5g.136056731A>TCA446551854TGFBIc.1614A>T (p.Thr538=)
n.2131A>T
c.1592A>T
c.611A>T
n.385A>T
c.766A>T
5g.136056732G>ACA361041774TGFBIc.1615G>A (p.Val539Ile)
n.2132G>A
c.1593G>A
c.612G>A
n.386G>A
c.767G>A
5g.136056732G>CCA361041771TGFBIc.1615G>C (p.Val539Leu)
n.2132G>C
c.1593G>C
c.612G>C
n.386G>C
c.767G>C
5g.136056732G>TCA361041773TGFBIc.1615G>T (p.Val539Phe)
n.2132G>T
c.1593G>T
c.612G>T
n.386G>T
c.767G>T
5g.136056733T>ACA361041775TGFBIc.1616T>A (p.Val539Asp)
n.2133T>A
c.1594T>A
c.613T>A
n.387T>A
c.768T>A
 dbSNP gnomAD v3 gnomAD v4
5g.136056733T>CCA361041776TGFBIc.1616T>C (p.Val539Ala)
n.2133T>C
c.1594T>C
c.613T>C
n.387T>C
c.768T>C
 gnomAD v4
5g.136056733T>GCA361041777TGFBIc.1616T>G (p.Val539Gly)
n.2133T>G
c.1594T>G
c.613T>G
n.387T>G
c.768T>G
5g.136056733T=CA1584798271TGFBIc.1616T= (p.Val539=)
n.2133T=
c.1594T=
c.613T=
n.387T=
c.768T=
5g.136056734C>ACA446551855TGFBIc.1617C>A (p.Val539=)
n.2134C>A
c.1595C>A
c.614C>A
n.388C>A
c.769C>A
5g.136056734C>GCA446551856TGFBIc.1617C>G (p.Val539=)
n.2134C>G
c.1595C>G
c.614C>G
n.388C>G
c.769C>G
 gnomAD v4
5g.136056734C>TCA446551857TGFBIc.1617C>T (p.Val539=)
n.2134C>T
c.1595C>T
c.614C>T
n.388C>T
c.769C>T
5g.136056735T>ACA361041784TGFBIc.1618T>A (p.Phe540Ile)
n.2135T>A
c.1596T>A
c.615T>A
n.389T>A
c.770T>A
5g.136056735T>CCA361041785TGFBIc.1618T>C (p.Phe540Leu)
n.2135T>C
c.1596T>C
c.615T>C
n.389T>C
c.770T>C
5g.136056735T>GCA361041787TGFBIc.1618T>G (p.Phe540Val)
n.2135T>G
c.1596T>G
c.615T>G
n.389T>G
c.770T>G
5g.136056735_136056737delCA2580072749TGFBIc.1618_1620del (p.Phe540del)
n.2135_2137del
c.1596_1598del
c.615_617del
n.389_391del
c.770_772del
 ClinVar dbSNP
5g.136056736T>ACA361041789TGFBIc.1619T>A (p.Phe540Tyr)
n.2136T>A
c.1597T>A
c.616T>A
n.390T>A
c.771T>A
5g.136056736T>CCA119126TGFBIc.1619T>C (p.Phe540Ser)
n.2136T>C
c.1597T>C
c.616T>C
n.390T>C
c.771T>C
 ClinVar dbSNP
5g.136056736T>GCA361041794TGFBIc.1619T>G (p.Phe540Cys)
n.2136T>G
c.1597T>G
c.616T>G
n.390T>G
c.771T>G
5g.136056736T=CA1584798276TGFBIc.1619T= (p.Phe540=)
n.2136T=
c.1597T=
c.616T=
n.390T=
c.771T=
5g.136056737T>ACA361041795TGFBIc.1620T>A (p.Phe540Leu)
n.2137T>A
c.1598T>A
c.617T>A
n.391T>A
c.772T>A
5g.136056737T>CCA3420468TGFBIc.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
5g.136056737T>GCA361041798TGFBIc.1620T>G (p.Phe540Leu)
n.2137T>G
c.1598T>G
c.617T>G
n.391T>G
c.772T>G
 gnomAD v4
5g.136056737T=CA1584798283TGFBIc.1620T= (p.Phe540=)
n.2137T=
c.1598T=
c.617T=
n.391T=
c.772T=
5g.136056738G>ACA3420469TGFBIc.1621G>A (p.Ala541Thr)
n.2138G>A
c.1599G>A
c.618G>A
n.392G>A
c.773G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.136056738G>CCA361041805TGFBIc.1621G>C (p.Ala541Pro)
n.2138G>C
c.1599G>C
c.618G>C
n.392G>C
c.773G>C
5g.136056738G=CA1584798287TGFBIc.1621G= (p.Ala541=)
n.2138G=
c.1599G=
c.618G=
n.392G=
c.773G=
5g.136056738G>TCA361041801TGFBIc.1621G>T (p.Ala541Ser)
n.2138G>T
c.1599G>T
c.618G>T
n.392G>T
c.773G>T
 dbSNP
5g.136056739C>ACA361041808TGFBIc.1622C>A (p.Ala541Asp)
n.2139C>A
c.1600C>A
c.619C>A
n.393C>A
c.774C>A
5g.136056739C=CA1584798291TGFBIc.1622C= (p.Ala541=)
n.2139C=
c.1600C=
c.619C=
n.393C=
c.774C=
5g.136056739C>GCA361041809TGFBIc.1622C>G (p.Ala541Gly)
n.2139C>G
c.1600C>G
c.619C>G
n.393C>G
c.774C>G
5g.136056739C>TCA3420470TGFBIc.1622C>T (p.Ala541Val)
n.2139C>T
c.1600C>T
c.619C>T
n.393C>T
c.774C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.136056739_136056740insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGTCA2740686285TGFBIc.1622_1623insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT (p.Ala542GlyfsTer11)
n.2139_2140insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT
c.1600_1601insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT
c.619_620insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT
n.393_394insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT
c.774_775insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT
5g.136056740T>ACA446551858TGFBIc.1623T>A (p.Ala541=)
n.2140T>A
c.1601T>A
c.620T>A
n.394T>A
c.775T>A
5g.136056740T>CCA446551859TGFBIc.1623T>C (p.Ala541=)
n.2140T>C
c.1601T>C
c.620T>C
n.394T>C
c.775T>C
 dbSNP
5g.136056740T>GCA446551860TGFBIc.1623T>G (p.Ala541=)
n.2140T>G
c.1601T>G
c.620T>G
n.394T>G
c.775T>G
5g.136056740T=CA1584798294TGFBIc.1623T= (p.Ala541=)
n.2140T=
c.1601T=
c.620T=
n.394T=
c.775T=
5g.136056741C>ACA361041811TGFBIc.1624C>A (p.Pro542Thr)
n.2141C>A
c.1602C>A
c.621C>A
n.395C>A
c.776C>A
5g.136056741C>GCA361041813TGFBIc.1624C>G (p.Pro542Ala)
n.2141C>G
c.1602C>G
c.621C>G
n.395C>G
c.776C>G
 gnomAD v4
5g.136056741C>TCA361041815TGFBIc.1624C>T (p.Pro542Ser)
n.2141C>T
c.1602C>T
c.621C>T
n.395C>T
c.776C>T
 gnomAD v4
5g.136056742C>ACA361041817TGFBIc.1625C>A (p.Pro542His)
n.2142C>A
c.1603C>A
c.622C>A
n.396C>A
c.777C>A
5g.136056742C=CA1584798297TGFBIc.1625C= (p.Pro542=)
n.2142C=
c.1603C=
c.622C=
n.396C=
c.777C=
5g.136056742C>GCA361041818TGFBIc.1625C>G (p.Pro542Arg)
n.2142C>G
c.1603C>G
c.622C>G
n.396C>G
c.777C>G
5g.136056742C>TCA361041824TGFBIc.1625C>T (p.Pro542Leu)
n.2142C>T
c.1603C>T
c.622C>T
n.396C>T
c.777C>T
 dbSNP COSMIC COSMIC
5g.136056743C>ACA446551861TGFBIc.1626C>A (p.Pro542=)
n.2143C>A
c.1604C>A
c.623C>A
n.397C>A
c.778C>A
5g.136056743C>GCA446551862TGFBIc.1626C>G (p.Pro542=)
n.2143C>G
c.1604C>G
c.623C>G
n.397C>G
c.778C>G
 gnomAD v4
5g.136056743C>TCA446551863TGFBIc.1626C>T (p.Pro542=)
n.2143C>T
c.1604C>T
c.623C>T
n.397C>T
c.778C>T
5g.136056744A>CCA361041829TGFBIc.1627A>C (p.Thr543Pro)
n.2144A>C
c.1605A>C
c.624A>C
n.398A>C
c.779A>C
5g.136056744A>GCA361041833TGFBIc.1627A>G (p.Thr543Ala)
n.2144A>G
c.1605A>G
c.624A>G
n.398A>G
c.779A>G
 gnomAD v4
5g.136056744A>TCA361041836TGFBIc.1627A>T (p.Thr543Ser)
n.2144A>T
c.1605A>T
c.624A>T
n.398A>T
c.779A>T
5g.136056745C>ACA361041841TGFBIc.1628C>A (p.Thr543Lys)
n.2145C>A
c.1606C>A
c.625C>A
n.399C>A
c.780C>A
5g.136056745C>GCA361041837TGFBIc.1628C>G (p.Thr543Arg)
n.2145C>G
c.1606C>G
c.625C>G
n.399C>G
c.780C>G
5g.136056745C>TCA361041839TGFBIc.1628C>T (p.Thr543Ile)
n.2145C>T
c.1606C>T
c.625C>T
n.399C>T
c.780C>T

Number of alleles fetched