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.22123729C>A | CA370492534 | HR | c.1835G>T (p.Trp612Leu) c.1838G>T (p.Trp613Leu) | gnomAD v4 |
8 | g.22123729C>G | CA370492535 | HR | c.1835G>C (p.Trp612Ser) c.1838G>C (p.Trp613Ser) | gnomAD v4 |
8 | g.22123729C>T | CA370492536 | HR | c.1835G>A (p.Trp612Ter) c.1838G>A (p.Trp613Ter) | |
8 | g.22123730A= | CA1770268030 | HR | c.1834T= (p.Trp612=) c.1837T= (p.Trp613=) | |
8 | g.22123730A>C | CA173458163 | HR | c.1834T>G (p.Trp612Gly) c.1837T>G (p.Trp613Gly) | dbSNP gnomAD v4 |
8 | g.22123730A>G | CA370492538 | HR | c.1834T>C (p.Trp612Arg) c.1837T>C (p.Trp613Arg) | |
8 | g.22123730A>T | CA370492539 | HR | c.1834T>A (p.Trp612Arg) c.1837T>A (p.Trp613Arg) | gnomAD v4 |
8 | g.22123731G>A | CA459891872 | HR | c.1833C>T (p.His611=) c.1836C>T (p.His612=) | dbSNP gnomAD v4 |
8 | g.22123731G>C | CA370492542 | HR | c.1833C>G (p.His611Gln) c.1836C>G (p.His612Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123731G= | CA1770268038 | HR | c.1833C= (p.His611=) c.1836C= (p.His612=) | |
8 | g.22123731G>T | CA370492540 | HR | c.1833C>A (p.His611Gln) c.1836C>A (p.His612Gln) | gnomAD v4 |
8 | g.22123732T>A | CA370492545 | HR | c.1832A>T (p.His611Leu) c.1835A>T (p.His612Leu) | |
8 | g.22123732T>C | CA370492546 | HR | c.1832A>G (p.His611Arg) c.1835A>G (p.His612Arg) | gnomAD v4 |
8 | g.22123732T>G | CA370492548 | HR | c.1832A>C (p.His611Pro) c.1835A>C (p.His612Pro) | gnomAD v4 |
8 | g.22123733G>A | CA370492550 | HR | c.1831C>T (p.His611Tyr) c.1834C>T (p.His612Tyr) | gnomAD v4 |
8 | g.22123733G>C | CA4662339 | HR | c.1831C>G (p.His611Asp) c.1834C>G (p.His612Asp) | dbSNP ExAC gnomAD v2 |
8 | g.22123733G= | CA1770268045 | HR | c.1831C= (p.His611=) c.1834C= (p.His612=) | |
8 | g.22123733G>T | CA370492551 | HR | c.1831C>A (p.His611Asn) c.1834C>A (p.His612Asn) | gnomAD v4 |
8 | g.22123734G>A | CA173458175 | HR | c.1830C>T (p.Thr610=) c.1833C>T (p.Thr611=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.22123734G>C | CA459891875 | HR | c.1830C>G (p.Thr610=) c.1833C>G (p.Thr611=) | |
8 | g.22123734G= | CA1770268047 | HR | c.1830C= (p.Thr610=) c.1833C= (p.Thr611=) | |
8 | g.22123734G>T | CA459891877 | HR | c.1830C>A (p.Thr610=) c.1833C>A (p.Thr611=) | 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 |