| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |