UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | 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= | |
| 5 | g.136056738G>A | CA3420469 | TGFBI | c.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 |
| 5 | g.136056738G>C | CA361041805 | TGFBI | c.1621G>C (p.Ala541Pro) n.2138G>C c.1599G>C c.618G>C n.392G>C c.773G>C | |
| 5 | g.136056738G= | CA1584798287 | TGFBI | c.1621G= (p.Ala541=) n.2138G= c.1599G= c.618G= n.392G= c.773G= | |
| 5 | g.136056738G>T | CA361041801 | TGFBI | c.1621G>T (p.Ala541Ser) n.2138G>T c.1599G>T c.618G>T n.392G>T c.773G>T | dbSNP |
| 5 | g.136056739C>A | CA361041808 | TGFBI | c.1622C>A (p.Ala541Asp) n.2139C>A c.1600C>A c.619C>A n.393C>A c.774C>A | |
| 5 | g.136056739C= | CA1584798291 | TGFBI | c.1622C= (p.Ala541=) n.2139C= c.1600C= c.619C= n.393C= c.774C= | |
| 5 | g.136056739C>G | CA361041809 | TGFBI | c.1622C>G (p.Ala541Gly) n.2139C>G c.1600C>G c.619C>G n.393C>G c.774C>G | |
| 5 | g.136056739C>T | CA3420470 | TGFBI | c.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 |
| 5 | g.136056739_136056740insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT | CA2740686285 | TGFBI | c.1622_1623insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT (p.Ala542GlyfsTer11) n.2139_2140insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT c.1600_1601insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT c.619_620insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT n.393_394insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT c.774_775insCGGCCTCGATTATTGTGAAGCGTTACCGCCGTAAGGATTCGACGGTGAACGCGGGCGGTTTCGGGTACCTGCGTGAGCGCTACGGTTTGGAGGCGCTGAACCGGCAGGTTCCGGGTCTGT | |
| 5 | g.136056740T>A | CA446551858 | TGFBI | c.1623T>A (p.Ala541=) n.2140T>A c.1601T>A c.620T>A n.394T>A c.775T>A | |
| 5 | g.136056740T>C | CA446551859 | TGFBI | c.1623T>C (p.Ala541=) n.2140T>C c.1601T>C c.620T>C n.394T>C c.775T>C | dbSNP |
| 5 | g.136056740T>G | CA446551860 | TGFBI | c.1623T>G (p.Ala541=) n.2140T>G c.1601T>G c.620T>G n.394T>G c.775T>G | |
| 5 | g.136056740T= | CA1584798294 | TGFBI | c.1623T= (p.Ala541=) n.2140T= c.1601T= c.620T= n.394T= c.775T= | |
| 5 | g.136056741C>A | CA361041811 | TGFBI | c.1624C>A (p.Pro542Thr) n.2141C>A c.1602C>A c.621C>A n.395C>A c.776C>A | |
| 5 | g.136056741C>G | CA361041813 | TGFBI | c.1624C>G (p.Pro542Ala) n.2141C>G c.1602C>G c.621C>G n.395C>G c.776C>G | gnomAD v4 |
| 5 | g.136056741C>T | CA361041815 | TGFBI | c.1624C>T (p.Pro542Ser) n.2141C>T c.1602C>T c.621C>T n.395C>T c.776C>T | gnomAD v4 |
| 5 | g.136056742C>A | CA361041817 | TGFBI | c.1625C>A (p.Pro542His) n.2142C>A c.1603C>A c.622C>A n.396C>A c.777C>A | |
| 5 | g.136056742C= | CA1584798297 | TGFBI | c.1625C= (p.Pro542=) n.2142C= c.1603C= c.622C= n.396C= c.777C= | |
| 5 | g.136056742C>G | CA361041818 | TGFBI | c.1625C>G (p.Pro542Arg) n.2142C>G c.1603C>G c.622C>G n.396C>G c.777C>G | |
| 5 | g.136056742C>T | CA361041824 | TGFBI | c.1625C>T (p.Pro542Leu) n.2142C>T c.1603C>T c.622C>T n.396C>T c.777C>T | dbSNP COSMIC COSMIC |
| 5 | g.136056743C>A | CA446551861 | TGFBI | c.1626C>A (p.Pro542=) n.2143C>A c.1604C>A c.623C>A n.397C>A c.778C>A | |
| 5 | g.136056743C>G | CA446551862 | TGFBI | c.1626C>G (p.Pro542=) n.2143C>G c.1604C>G c.623C>G n.397C>G c.778C>G | gnomAD v4 |
| 5 | g.136056743C>T | CA446551863 | TGFBI | c.1626C>T (p.Pro542=) n.2143C>T c.1604C>T c.623C>T n.397C>T c.778C>T | |
| 5 | g.136056744A>C | CA361041829 | TGFBI | c.1627A>C (p.Thr543Pro) n.2144A>C c.1605A>C c.624A>C n.398A>C c.779A>C | |
| 5 | g.136056744A>G | CA361041833 | TGFBI | c.1627A>G (p.Thr543Ala) n.2144A>G c.1605A>G c.624A>G n.398A>G c.779A>G | gnomAD v4 |
| 5 | g.136056744A>T | CA361041836 | TGFBI | c.1627A>T (p.Thr543Ser) n.2144A>T c.1605A>T c.624A>T n.398A>T c.779A>T | |
| 5 | g.136056745C>A | CA361041841 | TGFBI | c.1628C>A (p.Thr543Lys) n.2145C>A c.1606C>A c.625C>A n.399C>A c.780C>A | |
| 5 | g.136056745C>G | CA361041837 | TGFBI | c.1628C>G (p.Thr543Arg) n.2145C>G c.1606C>G c.625C>G n.399C>G c.780C>G | |
| 5 | g.136056745C>T | CA361041839 | TGFBI | c.1628C>T (p.Thr543Ile) n.2145C>T c.1606C>T c.625C>T n.399C>T c.780C>T | |
| 5 | g.136056746A>C | CA446551864 | TGFBI | c.1629A>C (p.Thr543=) n.2146A>C c.1607A>C c.626A>C n.400A>C c.781A>C | gnomAD v4 |
| 5 | g.136056746A>G | CA446551865 | TGFBI | c.1629A>G (p.Thr543=) n.2146A>G c.1607A>G c.626A>G n.400A>G c.781A>G | |
| 5 | g.136056746A>T | CA446551866 | TGFBI | c.1629A>T (p.Thr543=) n.2146A>T c.1607A>T c.626A>T n.400A>T c.781A>T | |
| 5 | g.136056747A= | CA1584798300 | TGFBI | c.1630A= (p.Asn544=) n.2147A= c.1608A= c.627A= n.401A= c.782A= | |
| 5 | g.136056747A>C | CA361041844 | TGFBI | c.1630A>C (p.Asn544His) n.2147A>C c.1608A>C c.627A>C n.401A>C c.782A>C | gnomAD v4 |
| 5 | g.136056747A>G | CA3420471 | TGFBI | c.1630A>G (p.Asn544Asp) n.2147A>G c.1608A>G c.627A>G n.401A>G c.782A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.136056747A>T | CA361041849 | TGFBI | c.1630A>T (p.Asn544Tyr) n.2147A>T c.1608A>T c.627A>T n.401A>T c.782A>T | |
| 5 | g.136056748A= | CA1584798304 | TGFBI | c.1631A= (p.Asn544=) n.2148A= c.1609A= c.628A= n.402A= c.783A= | |
| 5 | g.136056748A>C | CA361041850 | TGFBI | c.1631A>C (p.Asn544Thr) n.2148A>C c.1609A>C c.628A>C n.402A>C c.783A>C | |
| 5 | g.136056748A>G | CA3420472 | TGFBI | c.1631A>G (p.Asn544Ser) n.2148A>G c.1609A>G c.628A>G n.402A>G c.783A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056748A>T | CA361041853 | TGFBI | c.1631A>T (p.Asn544Ile) n.2148A>T c.1609A>T c.628A>T n.402A>T c.783A>T | |
| 5 | g.136056749T>A | CA361041866 | TGFBI | c.1632T>A (p.Asn544Lys) n.2149T>A c.1610T>A c.629T>A n.403T>A c.784T>A | |
| 5 | g.136056749T>C | CA446551867 | TGFBI | c.1632T>C (p.Asn544=) n.2149T>C c.1610T>C c.629T>C n.403T>C c.784T>C | |
| 5 | g.136056749T>G | CA361041869 | TGFBI | c.1632T>G (p.Asn544Lys) n.2149T>G c.1610T>G c.629T>G n.403T>G c.784T>G | |
| 5 | g.136056750G>A | CA3420473 | TGFBI | c.1633G>A (p.Glu545Lys) n.2150G>A c.1611G>A c.630G>A n.404G>A c.785G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.136056750G>C | CA361041870 | TGFBI | c.1633G>C (p.Glu545Gln) n.2150G>C c.1611G>C c.630G>C n.404G>C c.785G>C | |
| 5 | g.136056750G= | CA1584798309 | TGFBI | c.1633G= (p.Glu545=) n.2150G= c.1611G= c.630G= n.404G= c.785G= | |
| 5 | g.136056750G>T | CA361041871 | TGFBI | c.1633G>T (p.Glu545Ter) n.2150G>T c.1611G>T c.630G>T n.404G>T c.785G>T | |
| 5 | g.136056751A>C | CA361041887 | TGFBI | c.1634A>C (p.Glu545Ala) n.2151A>C c.1612A>C c.631A>C n.405A>C c.786A>C | |
| 5 | g.136056751A>G | CA361041876 | TGFBI | c.1634A>G (p.Glu545Gly) n.2151A>G c.1612A>G c.631A>G n.405A>G c.786A>G | |
| 5 | g.136056751A>T | CA361041872 | TGFBI | c.1634A>T (p.Glu545Val) n.2151A>T c.1612A>T c.631A>T n.405A>T c.786A>T | gnomAD v4 |
| 5 | g.136056752A>C | CA361041890 | TGFBI | c.1635A>C (p.Glu545Asp) n.2152A>C c.1613A>C c.632A>C n.406A>C c.787A>C | |
| 5 | g.136056752A>G | CA446551868 | TGFBI | c.1635A>G (p.Glu545=) n.2152A>G c.1613A>G c.632A>G n.406A>G c.787A>G | |
| 5 | g.136056752A>T | CA361041894 | TGFBI | c.1635A>T (p.Glu545Asp) n.2152A>T c.1613A>T c.632A>T n.406A>T c.787A>T | |
| 5 | g.136056753G>A | CA361041897 | TGFBI | c.1636G>A (p.Ala546Thr) n.2153G>A c.1614G>A c.633G>A n.407G>A c.788G>A | |
| 5 | g.136056753G>C | CA361041898 | TGFBI | c.1636G>C (p.Ala546Pro) n.2153G>C c.1614G>C c.633G>C n.407G>C c.788G>C | |
| 5 | g.136056753G>T | CA361041901 | TGFBI | c.1636G>T (p.Ala546Ser) n.2153G>T c.1614G>T c.633G>T n.407G>T c.788G>T | |
| 5 | g.136056754C>A | CA030886 | TGFBI | c.1637C>A (p.Ala546Asp) n.2154C>A c.1615C>A c.634C>A n.408C>A c.789C>A | dbSNP |
| 5 | g.[136056754C>A;136056769C>A] | CA031057 | TGFBI | c.[1637C>A;1652C>A] (p.[Ala546Asp;Pro551Gln]) n.[2154C>A;2169C>A] c.[1615C>A;1630C>A] c.[634C>A;649C>A] n.[408C>A;423C>A] c.[789C>A;804C>A] | ClinVar |
| 5 | g.136056754C= | CA1584798313 | TGFBI | c.1637C= (p.Ala546=) n.2154C= c.1615C= c.634C= n.408C= c.789C= | |
| 5 | g.136056754C>G | CA361041905 | TGFBI | c.1637C>G (p.Ala546Gly) n.2154C>G c.1615C>G c.634C>G n.408C>G c.789C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.136056754C>T | CA361041907 | TGFBI | c.1637C>T (p.Ala546Val) n.2154C>T c.1615C>T c.634C>T n.408C>T c.789C>T | |
| 5 | g.136056755C>A | CA446551869 | TGFBI | c.1638C>A (p.Ala546=) n.2155C>A c.1616C>A c.635C>A n.409C>A c.790C>A | |
| 5 | g.136056755C= | CA1584798315 | TGFBI | c.1638C= (p.Ala546=) n.2155C= c.1616C= c.635C= n.409C= c.790C= | |
| 5 | g.136056755C>G | CA446551870 | TGFBI | c.1638C>G (p.Ala546=) n.2155C>G c.1616C>G c.635C>G n.409C>G c.790C>G | |
| 5 | g.136056755C>T | CA3420474 | TGFBI | c.1638C>T (p.Ala546=) n.2155C>T c.1616C>T c.635C>T n.409C>T c.790C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.136056756T>A | CA361041913 | TGFBI | c.1639T>A (p.Phe547Ile) n.2156T>A c.1617T>A c.636T>A n.410T>A c.791T>A | |
| 5 | g.136056756T>C | CA361041916 | TGFBI | c.1639T>C (p.Phe547Leu) n.2156T>C c.1617T>C c.636T>C n.410T>C c.791T>C | |
| 5 | g.136056756T>G | CA361041920 | TGFBI | c.1639T>G (p.Phe547Val) n.2156T>G c.1617T>G c.636T>G n.410T>G c.791T>G | |
| 5 | g.136056757T>A | CA361041923 | TGFBI | c.1640T>A (p.Phe547Tyr) n.2157T>A c.1618T>A c.637T>A n.411T>A c.792T>A | gnomAD v4 |
| 5 | g.136056757T>C | CA361041924 | TGFBI | c.1640T>C (p.Phe547Ser) n.2157T>C c.1618T>C c.637T>C n.411T>C c.792T>C | |
| 5 | g.136056757T>G | CA361041926 | TGFBI | c.1640T>G (p.Phe547Cys) n.2157T>G c.1618T>G c.637T>G n.411T>G c.792T>G | ClinVar |
| 5 | g.136056758C>A | CA361041948 | TGFBI | c.1641C>A (p.Phe547Leu) n.2158C>A c.1619C>A c.638C>A n.412C>A c.793C>A | |
| 5 | g.136056758C>G | CA361041954 | TGFBI | c.1641C>G (p.Phe547Leu) n.2158C>G c.1619C>G c.638C>G n.412C>G c.793C>G | |
| 5 | g.136056758C>T | CA446551871 | TGFBI | c.1641C>T (p.Phe547=) n.2158C>T c.1619C>T c.638C>T n.412C>T c.793C>T | |
| 5 | g.136056759C>A | CA446551872 | TGFBI | c.1642C>A (p.Arg548=) n.2159C>A c.1620C>A c.639C>A n.413C>A c.794C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056759C= | CA1584798318 | TGFBI | c.1642C= (p.Arg548=) n.2159C= c.1620C= c.639C= n.413C= c.794C= | |
| 5 | g.136056759C>G | CA361041957 | TGFBI | c.1642C>G (p.Arg548Gly) n.2159C>G c.1620C>G c.639C>G n.413C>G c.794C>G | gnomAD v4 |
| 5 | g.136056759C>T | CA128059066 | TGFBI | c.1642C>T (p.Arg548Ter) n.2159C>T c.1620C>T c.639C>T n.413C>T c.794C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056760G>A | CA3420475 | TGFBI | c.1643G>A (p.Arg548Gln) n.2160G>A c.1621G>A c.640G>A n.414G>A c.795G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056760G>C | CA361041967 | TGFBI | c.1643G>C (p.Arg548Pro) n.2160G>C c.1621G>C c.640G>C n.414G>C c.795G>C | |
| 5 | g.136056760G= | CA1584798322 | TGFBI | c.1643G= (p.Arg548=) n.2160G= c.1621G= c.640G= n.414G= c.795G= | |
| 5 | g.136056760G>T | CA361041971 | TGFBI | c.1643G>T (p.Arg548Leu) n.2160G>T c.1621G>T c.640G>T n.414G>T c.795G>T | |
| 5 | g.136056761A>C | CA446551873 | TGFBI | c.1644A>C (p.Arg548=) n.2161A>C c.1622A>C c.641A>C n.415A>C c.796A>C | |
| 5 | g.136056761A>G | CA446551874 | TGFBI | c.1644A>G (p.Arg548=) n.2161A>G c.1622A>G c.641A>G n.415A>G c.796A>G | |
| 5 | g.136056761A>T | CA446551875 | TGFBI | c.1644A>T (p.Arg548=) n.2161A>T c.1622A>T c.641A>T n.415A>T c.796A>T | |
| 5 | g.136056762G>A | CA3420476 | TGFBI | c.1645G>A (p.Ala549Thr) n.2162G>A c.1623G>A c.642G>A n.416G>A c.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056762G>C | CA361041978 | TGFBI | c.1645G>C (p.Ala549Pro) n.2162G>C c.1623G>C c.642G>C n.416G>C c.797G>C | |
| 5 | g.136056762G= | CA1584798327 | TGFBI | c.1645G= (p.Ala549=) n.2162G= c.1623G= c.642G= n.416G= c.797G= | |
| 5 | g.136056762G>T | CA361041981 | TGFBI | c.1645G>T (p.Ala549Ser) n.2162G>T c.1623G>T c.642G>T n.416G>T c.797G>T | |
| 5 | g.136056763C>A | CA361041983 | TGFBI | c.1646C>A (p.Ala549Asp) n.2163C>A c.1624C>A c.643C>A n.417C>A c.798C>A | |
| 5 | g.136056763C= | CA1584798334 | TGFBI | c.1646C= (p.Ala549=) n.2163C= c.1624C= c.643C= n.417C= c.798C= | |
| 5 | g.136056763C>G | CA361041984 | TGFBI | c.1646C>G (p.Ala549Gly) n.2163C>G c.1624C>G c.643C>G n.417C>G c.798C>G | |
| 5 | g.136056763C>T | CA361041988 | TGFBI | c.1646C>T (p.Ala549Val) n.2163C>T c.1624C>T c.643C>T n.417C>T c.798C>T | dbSNP |
| 5 | g.136056765del | CA2675398304 | TGFBI | c.1648del (p.Leu550CysfsTer20) n.2165del c.1626del c.645del n.419del c.800del | gnomAD v4 |
| 5 | g.136056764C>A | CA446551876 | TGFBI | c.1647C>A (p.Ala549=) n.2164C>A c.1625C>A c.644C>A n.418C>A c.799C>A | |
| 5 | g.136056764C>G | CA446551877 | TGFBI | c.1647C>G (p.Ala549=) n.2164C>G c.1625C>G c.644C>G n.418C>G c.799C>G | |
| 5 | g.136056764C>T | CA446551878 | TGFBI | c.1647C>T (p.Ala549=) n.2164C>T c.1625C>T c.644C>T n.418C>T c.799C>T | |
| 5 | g.136056765C>A | CA361041993 | TGFBI | c.1648C>A (p.Leu550Met) n.2165C>A c.1626C>A c.645C>A n.419C>A c.800C>A | |
| 5 | g.136056765C>G | CA361041995 | TGFBI | c.1648C>G (p.Leu550Val) n.2165C>G c.1626C>G c.645C>G n.419C>G c.800C>G | |
| 5 | g.136056765C>T | CA446551879 | TGFBI | c.1648C>T (p.Leu550=) n.2165C>T c.1626C>T c.645C>T n.419C>T c.800C>T | |
| 5 | g.136056766T>A | CA361042000 | TGFBI | c.1649T>A (p.Leu550Gln) n.2166T>A c.1627T>A c.646T>A n.420T>A c.801T>A | |
| 5 | g.136056766T>C | CA361042005 | TGFBI | c.1649T>C (p.Leu550Pro) n.2166T>C c.1627T>C c.646T>C n.420T>C c.801T>C | gnomAD v4 |
| 5 | g.136056766T>G | CA361042003 | TGFBI | c.1649T>G (p.Leu550Arg) n.2166T>G c.1627T>G c.646T>G n.420T>G c.801T>G | |
| 5 | g.136056767G>A | CA446551880 | TGFBI | c.1650G>A (p.Leu550=) n.2167G>A c.1628G>A c.647G>A n.421G>A c.802G>A | COSMIC COSMIC |
| 5 | g.136056767G>C | CA128059075 | TGFBI | c.1650G>C (p.Leu550=) n.2167G>C c.1628G>C c.647G>C n.421G>C c.802G>C | dbSNP gnomAD v4 |
| 5 | g.136056767G= | CA1584798339 | TGFBI | c.1650G= (p.Leu550=) n.2167G= c.1628G= c.647G= n.421G= c.802G= | |
| 5 | g.136056767G>T | CA446551881 | TGFBI | c.1650G>T (p.Leu550=) n.2167G>T c.1628G>T c.647G>T n.421G>T c.802G>T | dbSNP |
| 5 | g.136056768C>A | CA361042007 | TGFBI | c.1651C>A (p.Pro551Thr) n.2168C>A c.1629C>A c.648C>A n.422C>A c.803C>A | |
| 5 | g.136056768C>G | CA361042009 | TGFBI | c.1651C>G (p.Pro551Ala) n.2168C>G c.1629C>G c.648C>G n.422C>G c.803C>G | |
| 5 | g.136056768C>T | CA361042011 | TGFBI | c.1651C>T (p.Pro551Ser) n.2168C>T c.1629C>T c.648C>T n.422C>T c.803C>T | gnomAD v4 |
| 5 | g.136056769C>A | CA031042 | TGFBI | c.1652C>A (p.Pro551Gln) n.2169C>A c.1630C>A c.649C>A n.423C>A c.804C>A | dbSNP |
| 5 | g.136056769C= | CA1584798344 | TGFBI | c.1652C= (p.Pro551=) n.2169C= c.1630C= c.649C= n.423C= c.804C= | |
| 5 | g.136056769C>G | CA361042015 | TGFBI | c.1652C>G (p.Pro551Arg) n.2169C>G c.1630C>G c.649C>G n.423C>G c.804C>G | |
| 5 | g.136056769C>T | CA361042018 | TGFBI | c.1652C>T (p.Pro551Leu) n.2169C>T c.1630C>T c.649C>T n.423C>T c.804C>T | |
| 5 | g.136056770A>C | CA446551882 | TGFBI | c.1653A>C (p.Pro551=) n.2170A>C c.1631A>C c.650A>C n.424A>C c.805A>C | |
| 5 | g.136056770A>G | CA446551884 | TGFBI | c.1653A>G (p.Pro551=) n.2170A>G c.1631A>G c.650A>G n.424A>G c.805A>G | gnomAD v4 |
| 5 | g.136056770A>T | CA446551883 | TGFBI | c.1653A>T (p.Pro551=) n.2170A>T c.1631A>T c.650A>T n.424A>T c.805A>T | |
| 5 | g.136056771C>A | CA361042020 | TGFBI | c.1654C>A (p.Pro552Thr) n.2171C>A c.1632C>A c.651C>A n.425C>A c.806C>A | |
| 5 | g.136056771C>G | CA361042023 | TGFBI | c.1654C>G (p.Pro552Ala) n.2171C>G c.1632C>G c.651C>G n.425C>G c.806C>G | |
| 5 | g.136056771C>T | CA361042024 | TGFBI | c.1654C>T (p.Pro552Ser) n.2171C>T c.1632C>T c.651C>T n.425C>T c.806C>T | |
| 5 | g.136056772C>A | CA3420477 | TGFBI | c.1655C>A (p.Pro552Gln) n.2172C>A c.1633C>A c.652C>A n.426C>A c.807C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056772C= | CA1584798351 | TGFBI | c.1655C= (p.Pro552=) n.2172C= c.1633C= c.652C= n.426C= c.807C= | |
| 5 | g.136056772C>G | CA361042031 | TGFBI | c.1655C>G (p.Pro552Arg) n.2172C>G c.1633C>G c.652C>G n.426C>G c.807C>G | |
| 5 | g.136056772C>T | CA361042032 | TGFBI | c.1655C>T (p.Pro552Leu) n.2172C>T c.1633C>T c.652C>T n.426C>T c.807C>T | dbSNP gnomAD v4 |
| 5 | g.136056773A= | CA1584798356 | TGFBI | c.1656A= (p.Pro552=) n.2173A= c.1634A= c.653A= n.427A= c.808A= | |
| 5 | g.136056773A>C | CA446551885 | TGFBI | c.1656A>C (p.Pro552=) n.2173A>C c.1634A>C c.653A>C n.427A>C c.808A>C | |
| 5 | g.136056773A>G | CA128059093 | TGFBI | c.1656A>G (p.Pro552=) n.2173A>G c.1634A>G c.653A>G n.427A>G c.808A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.136056773A>T | CA446551886 | TGFBI | c.1656A>T (p.Pro552=) n.2173A>T c.1634A>T c.653A>T n.427A>T c.808A>T | |
| 5 | g.136056774del | CA2675398308 | TGFBI | c.1657del (p.Arg553GlufsTer17) n.2174del c.1635del c.654del n.428del c.809del | gnomAD v4 |
| 5 | g.136056774A= | CA1584798360 | TGFBI | c.1657A= (p.Arg553=) n.2174A= c.1635A= c.654A= n.428A= c.809A= | |
| 5 | g.136056774A>C | CA446551887 | TGFBI | c.1657A>C (p.Arg553=) n.2174A>C c.1635A>C c.654A>C n.428A>C c.809A>C | |
| 5 | g.136056774A>G | CA3420478 | TGFBI | c.1657A>G (p.Arg553Gly) n.2174A>G c.1635A>G c.654A>G n.428A>G c.809A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136056774A>T | CA361042033 | TGFBI | c.1657A>T (p.Arg553Ter) n.2174A>T c.1635A>T c.654A>T n.428A>T c.809A>T | |
| 5 | g.136056775G>A | CA361042037 | TGFBI | c.1658G>A (p.Arg553Lys) n.2175G>A c.1636G>A c.655G>A n.429G>A c.810G>A | |
| 5 | g.136056775G>C | CA361042040 | TGFBI | c.1658G>C (p.Arg553Thr) n.2175G>C c.1636G>C c.655G>C n.429G>C c.810G>C | dbSNP |
| 5 | g.136056775G= | CA1584798366 | TGFBI | c.1658G= (p.Arg553=) n.2175G= c.1636G= c.655G= n.429G= c.810G= | |
| 5 | g.136056775G>T | CA361042042 | TGFBI | c.1658G>T (p.Arg553Ile) n.2175G>T c.1636G>T c.655G>T n.429G>T c.810G>T | |
| 5 | g.136056776A>C | CA361042044 | TGFBI | c.1659A>C (p.Arg553Ser) n.2176A>C c.1637A>C c.656A>C n.430A>C c.811A>C | |
| 5 | g.136056776A>G | CA446551888 | TGFBI | c.1659A>G (p.Arg553=) n.2176A>G c.1637A>G c.656A>G n.430A>G c.811A>G | |
| 5 | g.136056776A>T | CA361042046 | TGFBI | c.1659A>T (p.Arg553Ser) n.2176A>T c.1637A>T c.656A>T n.430A>T c.811A>T | |
| 5 | g.136056777G>A | CA361042049 | TGFBI | c.1660G>A (p.Glu554Lys) n.2177G>A c.1638G>A c.657G>A n.431G>A c.812G>A | |
| 5 | g.136056777G>C | CA361042050 | TGFBI | c.1660G>C (p.Glu554Gln) n.2177G>C c.1638G>C c.657G>C n.431G>C c.812G>C | |
| 5 | g.136056777G>T | CA361042051 | TGFBI | c.1660G>T (p.Glu554Ter) n.2177G>T c.1638G>T c.657G>T n.431G>T c.812G>T | |
| 5 | g.136056778A>C | CA361042055 | TGFBI | c.1661A>C (p.Glu554Ala) n.2178A>C c.1639A>C c.658A>C n.432A>C c.813A>C | |
| 5 | g.136056778A>G | CA361042056 | TGFBI | c.1661A>G (p.Glu554Gly) n.2178A>G c.1639A>G c.658A>G n.432A>G c.813A>G | |
| 5 | g.136056778A>T | CA361042058 | TGFBI | c.1661A>T (p.Glu554Val) n.2178A>T c.1639A>T c.658A>T n.432A>T c.813A>T | |
| 5 | g.136056779A>C | CA361042059 | TGFBI | c.1662A>C (p.Glu554Asp) n.2179A>C c.1640A>C c.659A>C n.433A>C c.814A>C | |
| 5 | g.136056779A>G | CA446551889 | TGFBI | c.1662A>G (p.Glu554=) n.2179A>G c.1640A>G c.659A>G n.433A>G c.814A>G | |
| 5 | g.136056779A>T | CA361042061 | TGFBI | c.1662A>T (p.Glu554Asp) n.2179A>T c.1640A>T c.659A>T n.433A>T c.814A>T | |
| 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 |
| 5 | g.136056794G= | CA1584798406 | TGFBI | c.1677G= (p.Leu559=) n.2194G= c.1655G= c.674G= n.448G= c.829G= | |
| 5 | g.136056794G>T | CA361042135 | TGFBI | c.1677G>T (p.Leu559Phe) n.2194G>T c.1655G>T c.674G>T n.448G>T c.829G>T |