Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.22123718_22123768del | CA2686436807 | HR | c.1805_1855del (p.Arg602_Ser618del) c.1808_1858del (p.Arg603_Ser619del) | gnomAD v4 |
8 | g.22123735G>A | CA370492556 | HR | c.1829C>T (p.Thr610Ile) c.1832C>T (p.Thr611Ile) | gnomAD v4 |
8 | g.22123735G>C | CA370492553 | HR | c.1829C>G (p.Thr610Ser) c.1832C>G (p.Thr611Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123735G= | CA1770268053 | HR | c.1829C= (p.Thr610=) c.1832C= (p.Thr611=) | |
8 | g.22123735G>T | CA370492554 | HR | c.1829C>A (p.Thr610Asn) c.1832C>A (p.Thr611Asn) | gnomAD v4 |
8 | g.22123736T>A | CA370492558 | HR | c.1828A>T (p.Thr610Ser) c.1831A>T (p.Thr611Ser) | |
8 | g.22123736T>C | CA370492559 | HR | c.1828A>G (p.Thr610Ala) c.1831A>G (p.Thr611Ala) | |
8 | g.22123736T>G | CA370492560 | HR | c.1828A>C (p.Thr610Pro) c.1831A>C (p.Thr611Pro) | dbSNP |
8 | g.22123736T= | CA1770268057 | HR | c.1828A= (p.Thr610=) c.1831A= (p.Thr611=) | |
8 | g.22123737G>A | CA459891884 | HR | c.1827C>T (p.Asn609=) c.1830C>T (p.Asn610=) | |
8 | g.22123737G>C | CA370492562 | HR | c.1827C>G (p.Asn609Lys) c.1830C>G (p.Asn610Lys) | |
8 | g.22123737G>T | CA370492564 | HR | c.1827C>A (p.Asn609Lys) c.1830C>A (p.Asn610Lys) | gnomAD v4 COSMIC |
8 | g.22123738T>A | CA370492566 | HR | c.1826A>T (p.Asn609Ile) c.1829A>T (p.Asn610Ile) | |
8 | g.22123738T>C | CA370492570 | HR | c.1826A>G (p.Asn609Ser) c.1829A>G (p.Asn610Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123738T>G | CA370492568 | HR | c.1826A>C (p.Asn609Thr) c.1829A>C (p.Asn610Thr) | |
8 | g.22123738T= | CA1770268059 | HR | c.1826A= (p.Asn609=) c.1829A= (p.Asn610=) | |
8 | g.22123739T>A | CA370492571 | HR | c.1825A>T (p.Asn609Tyr) c.1828A>T (p.Asn610Tyr) | |
8 | g.22123739T>C | CA370492573 | HR | c.1825A>G (p.Asn609Asp) c.1828A>G (p.Asn610Asp) | gnomAD v4 |
8 | g.22123739T>G | CA370492574 | HR | c.1825A>C (p.Asn609His) c.1828A>C (p.Asn610His) | |
8 | g.22123740G>A | CA459891890 | HR | c.1824C>T (p.Phe608=) c.1827C>T (p.Phe609=) | gnomAD v4 |
8 | g.22123740G>C | CA370492578 | HR | c.1824C>G (p.Phe608Leu) c.1827C>G (p.Phe609Leu) | |
8 | g.22123740G>T | CA370492580 | HR | c.1824C>A (p.Phe608Leu) c.1827C>A (p.Phe609Leu) | gnomAD v4 |
8 | g.22123741A>C | CA370492583 | HR | c.1823T>G (p.Phe608Cys) c.1826T>G (p.Phe609Cys) | |
8 | g.22123741A>G | CA370492586 | HR | c.1823T>C (p.Phe608Ser) c.1826T>C (p.Phe609Ser) | gnomAD v4 |
8 | g.22123741A>T | CA370492589 | HR | c.1823T>A (p.Phe608Tyr) c.1826T>A (p.Phe609Tyr) | |
8 | g.22123742A= | CA1770268062 | HR | c.1822T= (p.Phe608=) c.1825T= (p.Phe609=) | |
8 | g.22123742A>C | CA370492591 | HR | c.1822T>G (p.Phe608Val) c.1825T>G (p.Phe609Val) | |
8 | g.22123742A>G | CA4662340 | HR | c.1822T>C (p.Phe608Leu) c.1825T>C (p.Phe609Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123742A>T | CA370492596 | HR | c.1822T>A (p.Phe608Ile) c.1825T>A (p.Phe609Ile) | |
8 | g.22123743G>A | CA459891895 | HR | c.1821C>T (p.Leu607=) c.1824C>T (p.Leu608=) | |
8 | g.22123743G>C | CA459891896 | HR | c.1821C>G (p.Leu607=) c.1824C>G (p.Leu608=) | |
8 | g.22123743G>T | CA459891897 | HR | c.1821C>A (p.Leu607=) c.1824C>A (p.Leu608=) | gnomAD v4 |
8 | g.22123744A>C | CA370492602 | HR | c.1820T>G (p.Leu607Arg) c.1823T>G (p.Leu608Arg) | |
8 | g.22123744A>G | CA370492605 | HR | c.1820T>C (p.Leu607Pro) c.1823T>C (p.Leu608Pro) | |
8 | g.22123744A>T | CA370492599 | HR | c.1820T>A (p.Leu607His) c.1823T>A (p.Leu608His) | |
8 | g.22123745G>A | CA370492612 | HR | c.1819C>T (p.Leu607Phe) c.1822C>T (p.Leu608Phe) | gnomAD v4 |
8 | g.22123745G>C | CA370492608 | HR | c.1819C>G (p.Leu607Val) c.1822C>G (p.Leu608Val) | |
8 | g.22123745G>T | CA370492610 | HR | c.1819C>A (p.Leu607Ile) c.1822C>A (p.Leu608Ile) | gnomAD v4 |
8 | g.22123746T>A | CA459891905 | HR | c.1818A>T (p.Gly606=) c.1821A>T (p.Gly607=) | dbSNP gnomAD v4 |
8 | g.22123746T>C | CA459891906 | HR | c.1818A>G (p.Gly606=) c.1821A>G (p.Gly607=) | gnomAD v4 |
8 | g.22123746T>G | CA459891908 | HR | c.1818A>C (p.Gly606=) c.1821A>C (p.Gly607=) | |
8 | g.22123746T= | CA1770268067 | HR | c.1818A= (p.Gly606=) c.1821A= (p.Gly607=) | |
8 | g.22123747C>A | CA370492615 | HR | c.1817G>T (p.Gly606Val) c.1820G>T (p.Gly607Val) | gnomAD v4 |
8 | g.22123747C= | CA1770268068 | HR | c.1817G= (p.Gly606=) c.1820G= (p.Gly607=) | |
8 | g.22123747C>G | CA370492617 | HR | c.1817G>C (p.Gly606Ala) c.1820G>C (p.Gly607Ala) | gnomAD v4 |
8 | g.22123747C>T | CA370492620 | HR | c.1817G>A (p.Gly606Glu) c.1820G>A (p.Gly607Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123748C>A | CA370492623 | HR | c.1816G>T (p.Gly606Ter) c.1819G>T (p.Gly607Ter) | |
8 | g.22123748C= | CA1770268072 | HR | c.1816G= (p.Gly606=) c.1819G= (p.Gly607=) | |
8 | g.22123748C>G | CA370492626 | HR | c.1816G>C (p.Gly606Arg) c.1819G>C (p.Gly607Arg) | |
8 | g.22123748C>T | CA370492629 | HR | c.1816G>A (p.Gly606Arg) c.1819G>A (p.Gly607Arg) | dbSNP gnomAD v4 |