Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30608572A= | CA1354844310 | TGFBR2 | c.94+1595A= (n.94+1595A=) c.-12+1979A= (n.-12+1979A=) | |
3 | g.30608572A>C | CA2580587310 | TGFBR2 | c.94+1595A>C (n.94+1595A>C) c.-12+1979A>C (n.-12+1979A>C) | |
3 | g.30608572A>G | CA11356422 | TGFBR2 | c.94+1595A>G (n.94+1595A>G) c.-12+1979A>G (n.-12+1979A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30608572A>T | CA1046446829 | TGFBR2 | c.94+1595A>T (n.94+1595A>T) c.-12+1979A>T (n.-12+1979A>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608573_30608574delinsGA | CA1354844311 | TGFBR2 | c.94+1596_94+1597delinsGA (n.94+1596_94+1597delinsGA) c.-12+1980_-12+1981delinsGA (n.-12+1980_-12+1981delinsGA) | |
3 | g.30608574A= | CA1354844313 | TGFBR2 | c.94+1597A= (n.94+1597A=) c.-12+1981A= (n.-12+1981A=) | |
3 | g.30608574A>G | CA1354844314 | TGFBR2 | c.94+1597A>G (n.94+1597A>G) c.-12+1981A>G (n.-12+1981A>G) | dbSNP |
3 | g.30608579dup | CA906176041 | TGFBR2 | c.94+1602dup (n.94+1602dup) c.-12+1986dup (n.-12+1986dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608579del | CA1354844312 | TGFBR2 | c.94+1602del (n.94+1602del) c.-12+1986del (n.-12+1986del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608576A= | CA1354844315 | TGFBR2 | c.94+1599A= (n.94+1599A=) c.-12+1983A= (n.-12+1983A=) | |
3 | g.30608576A>G | CA1046446831 | TGFBR2 | c.94+1599A>G (n.94+1599A>G) c.-12+1983A>G (n.-12+1983A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608580T>A | CA1354844317 | TGFBR2 | c.94+1603T>A (n.94+1603T>A) c.-12+1987T>A (n.-12+1987T>A) | dbSNP |
3 | g.30608580T= | CA1354844316 | TGFBR2 | c.94+1603T= (n.94+1603T=) c.-12+1987T= (n.-12+1987T=) | |
3 | g.30608582C>A | CA906176045 | TGFBR2 | c.94+1605C>A (n.94+1605C>A) c.-12+1989C>A (n.-12+1989C>A) | dbSNP |
3 | g.30608582C= | CA1354844318 | TGFBR2 | c.94+1605C= (n.94+1605C=) c.-12+1989C= (n.-12+1989C=) | |
3 | g.30608582C>T | CA1046446833 | TGFBR2 | c.94+1605C>T (n.94+1605C>T) c.-12+1989C>T (n.-12+1989C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608583G>A | CA542110791 | TGFBR2 | c.94+1606G>A (n.94+1606G>A) c.-12+1990G>A (n.-12+1990G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30608583G>C | CA906176054 | TGFBR2 | c.94+1606G>C (n.94+1606G>C) c.-12+1990G>C (n.-12+1990G>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608583G= | CA1354844319 | TGFBR2 | c.94+1606G= (n.94+1606G=) c.-12+1990G= (n.-12+1990G=) | |
3 | g.30608586T>C | CA1354844321 | TGFBR2 | c.94+1609T>C (n.94+1609T>C) c.-12+1993T>C (n.-12+1993T>C) | dbSNP |
3 | g.30608586T= | CA1354844320 | TGFBR2 | c.94+1609T= (n.94+1609T=) c.-12+1993T= (n.-12+1993T=) | |
3 | g.30608587C>A | CA1046446840 | TGFBR2 | c.94+1610C>A (n.94+1610C>A) c.-12+1994C>A (n.-12+1994C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608587C= | CA1354844322 | TGFBR2 | c.94+1610C= (n.94+1610C=) c.-12+1994C= (n.-12+1994C=) | |
3 | g.30608589C= | CA1354844323 | TGFBR2 | c.94+1612C= (n.94+1612C=) c.-12+1996C= (n.-12+1996C=) | |
3 | g.30608589C>T | CA72290183 | TGFBR2 | c.94+1612C>T (n.94+1612C>T) c.-12+1996C>T (n.-12+1996C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608590G>A | CA1046446847 | TGFBR2 | c.94+1613G>A (n.94+1613G>A) c.-12+1997G>A (n.-12+1997G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608590G= | CA1354844324 | TGFBR2 | c.94+1613G= (n.94+1613G=) c.-12+1997G= (n.-12+1997G=) | |
3 | g.30608590G>T | CA72290184 | TGFBR2 | c.94+1613G>T (n.94+1613G>T) c.-12+1997G>T (n.-12+1997G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30608595G= | CA1354844325 | TGFBR2 | c.94+1618G= (n.94+1618G=) c.-12+2002G= (n.-12+2002G=) | |
3 | g.30608595G>T | CA1354844326 | TGFBR2 | c.94+1618G>T (n.94+1618G>T) c.-12+2002G>T (n.-12+2002G>T) | dbSNP |
3 | g.30608601A= | CA1354844327 | TGFBR2 | c.94+1624A= (n.94+1624A=) c.-12+2008A= (n.-12+2008A=) | |
3 | g.30608601A>G | CA906176057 | TGFBR2 | c.94+1624A>G (n.94+1624A>G) c.-12+2008A>G (n.-12+2008A>G) | dbSNP |
3 | g.30608606_30608608delinsTAG | CA1354844328 | TGFBR2 | c.94+1629_94+1631delinsTAG (n.94+1629_94+1631delinsTAG) c.-12+2013_-12+2015delinsTAG (n.-12+2013_-12+2015delinsTAG) | |
3 | g.30608609_30608610del | CA1354844329 | TGFBR2 | c.94+1632_94+1633del (n.94+1632_94+1633del) c.-12+2016_-12+2017del (n.-12+2016_-12+2017del) | dbSNP |
3 | g.30608609A= | CA1354844330 | TGFBR2 | c.94+1632A= (n.94+1632A=) c.-12+2016A= (n.-12+2016A=) | |
3 | g.30608609A>C | CA1046446851 | TGFBR2 | c.94+1632A>C (n.94+1632A>C) c.-12+2016A>C (n.-12+2016A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608610_30608614delinsGTGTT | CA1354844331 | TGFBR2 | c.94+1633_94+1637delinsGTGTT (n.94+1633_94+1637delinsGTGTT) c.-12+2017_-12+2021delinsGTGTT (n.-12+2017_-12+2021delinsGTGTT) | |
3 | g.30608613_30608616del | CA72290185 | TGFBR2 | c.94+1636_94+1639del (n.94+1636_94+1639del) c.-12+2020_-12+2023del (n.-12+2020_-12+2023del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608612G>A | CA72290186 | TGFBR2 | c.94+1635G>A (n.94+1635G>A) c.-12+2019G>A (n.-12+2019G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30608612G= | CA1354844332 | TGFBR2 | c.94+1635G= (n.94+1635G=) c.-12+2019G= (n.-12+2019G=) | |
3 | g.30608612_30608613insCC | CA2568359516 | TGFBR2 | c.94+1635_94+1636insCC (n.94+1635_94+1636insCC) c.-12+2019_-12+2020insCC (n.-12+2019_-12+2020insCC) | |
3 | g.30608613_30608614insCCGG | CA2530932399 | TGFBR2 | c.94+1636_94+1637insCCGG (n.94+1636_94+1637insCCGG) c.-12+2020_-12+2021insCCGG (n.-12+2020_-12+2021insCCGG) | |
3 | g.30608614T>G | CA2568991845 | TGFBR2 | c.94+1637T>G (n.94+1637T>G) c.-12+2021T>G (n.-12+2021T>G) | |
3 | g.30608618A>T | CA2547586052 | TGFBR2 | c.94+1641A>T (n.94+1641A>T) c.-12+2025A>T (n.-12+2025A>T) | |
3 | g.30608621G>A | CA1354844334 | TGFBR2 | c.94+1644G>A (n.94+1644G>A) c.-12+2028G>A (n.-12+2028G>A) | dbSNP |
3 | g.30608621G= | CA1354844333 | TGFBR2 | c.94+1644G= (n.94+1644G=) c.-12+2028G= (n.-12+2028G=) | |
3 | g.30608622G>T | CA2702370092 | TGFBR2 | c.94+1645G>T (n.94+1645G>T) c.-12+2029G>T (n.-12+2029G>T) | dbSNP |
3 | g.30608623A= | CA1354844335 | TGFBR2 | c.94+1646A= (n.94+1646A=) c.-12+2030A= (n.-12+2030A=) | |
3 | g.30608623A>G | CA906176077 | TGFBR2 | c.94+1646A>G (n.94+1646A>G) c.-12+2030A>G (n.-12+2030A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30608623A>T | CA1046446863 | TGFBR2 | c.94+1646A>T (n.94+1646A>T) c.-12+2030A>T (n.-12+2030A>T) | dbSNP gnomAD v3 gnomAD v4 |