Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.116759362A>C | CA368981630 | MET | c.2265-29A>C (n.2265-29A>C) c.2264+742A>C (n.2264+742A>C) c.2290A>C (p.Ile764Leu) c.105-29A>C (n.105-29A>C) c.975-29A>C (n.975-29A>C) c.2322-29A>C (n.2322-29A>C) n.2495+742A>C | ClinVar |
7 | g.116759362A>G | CA368981632 | MET | c.2265-29A>G (n.2265-29A>G) c.2264+742A>G (n.2264+742A>G) c.2290A>G (p.Ile764Val) c.105-29A>G (n.105-29A>G) c.975-29A>G (n.975-29A>G) c.2322-29A>G (n.2322-29A>G) n.2495+742A>G | ClinVar dbSNP |
7 | g.116759362A>T | CA368981637 | MET | c.2265-29A>T (n.2265-29A>T) c.2264+742A>T (n.2264+742A>T) c.2290A>T (p.Ile764Phe) c.105-29A>T (n.105-29A>T) c.975-29A>T (n.975-29A>T) c.2322-29A>T (n.2322-29A>T) n.2495+742A>T | ClinVar dbSNP |
7 | g.116759363T>A | CA368981644 | MET | c.2265-28T>A (n.2265-28T>A) c.2264+743T>A (n.2264+743T>A) c.2291T>A (p.Ile764Asn) c.105-28T>A (n.105-28T>A) c.975-28T>A (n.975-28T>A) c.2322-28T>A (n.2322-28T>A) n.2495+743T>A | dbSNP |
7 | g.116759363T>C | CA368981639 | MET | c.2265-28T>C (n.2265-28T>C) c.2264+743T>C (n.2264+743T>C) c.2291T>C (p.Ile764Thr) c.105-28T>C (n.105-28T>C) c.975-28T>C (n.975-28T>C) c.2322-28T>C (n.2322-28T>C) n.2495+743T>C | dbSNP |
7 | g.116759363T>G | CA368981642 | MET | c.2265-28T>G (n.2265-28T>G) c.2264+743T>G (n.2264+743T>G) c.2291T>G (p.Ile764Ser) c.105-28T>G (n.105-28T>G) c.975-28T>G (n.975-28T>G) c.2322-28T>G (n.2322-28T>G) n.2495+743T>G | dbSNP |
7 | g.116759364T>A | CA457217150 | MET | c.2265-27T>A (n.2265-27T>A) c.2264+744T>A (n.2264+744T>A) c.2292T>A (p.Ile764=) c.105-27T>A (n.105-27T>A) c.975-27T>A (n.975-27T>A) c.2322-27T>A (n.2322-27T>A) n.2495+744T>A | |
7 | g.116759364T>C | CA457217151 | MET | c.2265-27T>C (n.2265-27T>C) c.2264+744T>C (n.2264+744T>C) c.2292T>C (p.Ile764=) c.105-27T>C (n.105-27T>C) c.975-27T>C (n.975-27T>C) c.2322-27T>C (n.2322-27T>C) n.2495+744T>C | |
7 | g.116759364T>G | CA368981646 | MET | c.2265-27T>G (n.2265-27T>G) c.2264+744T>G (n.2264+744T>G) c.2292T>G (p.Ile764Met) c.105-27T>G (n.105-27T>G) c.975-27T>G (n.975-27T>G) c.2322-27T>G (n.2322-27T>G) n.2495+744T>G | |
7 | g.116759365G>A | CA4448444 | MET | c.2265-26G>A (n.2265-26G>A) c.2264+745G>A (n.2264+745G>A) c.2293G>A (p.Val765Ile) c.105-26G>A (n.105-26G>A) c.975-26G>A (n.975-26G>A) c.2322-26G>A (n.2322-26G>A) n.2495+745G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759365G>C | CA368981649 | MET | c.2265-26G>C (n.2265-26G>C) c.2264+745G>C (n.2264+745G>C) c.2293G>C (p.Val765Leu) c.105-26G>C (n.105-26G>C) c.975-26G>C (n.975-26G>C) c.2322-26G>C (n.2322-26G>C) n.2495+745G>C | dbSNP |
7 | g.116759365G= | CA1737025211 | MET | c.2265-26G= (n.2265-26G=) c.2264+745G= (n.2264+745G=) c.2293G= (p.Val765=) c.105-26G= (n.105-26G=) c.975-26G= (n.975-26G=) c.2322-26G= (n.2322-26G=) n.2495+745G= | |
7 | g.116759365G>T | CA368981652 | MET | c.2265-26G>T (n.2265-26G>T) c.2264+745G>T (n.2264+745G>T) c.2293G>T (p.Val765Phe) c.105-26G>T (n.105-26G>T) c.975-26G>T (n.975-26G>T) c.2322-26G>T (n.2322-26G>T) n.2495+745G>T | |
7 | g.116759366T>A | CA368981656 | MET | c.2265-25T>A (n.2265-25T>A) c.2264+746T>A (n.2264+746T>A) c.2294T>A (p.Val765Asp) c.105-25T>A (n.105-25T>A) c.975-25T>A (n.975-25T>A) c.2322-25T>A (n.2322-25T>A) n.2495+746T>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759366T>C | CA368981658 | MET | c.2265-25T>C (n.2265-25T>C) c.2264+746T>C (n.2264+746T>C) c.2294T>C (p.Val765Ala) c.105-25T>C (n.105-25T>C) c.975-25T>C (n.975-25T>C) c.2322-25T>C (n.2322-25T>C) n.2495+746T>C | dbSNP |
7 | g.116759366T>G | CA368981668 | MET | c.2265-25T>G (n.2265-25T>G) c.2264+746T>G (n.2264+746T>G) c.2294T>G (p.Val765Gly) c.105-25T>G (n.105-25T>G) c.975-25T>G (n.975-25T>G) c.2322-25T>G (n.2322-25T>G) n.2495+746T>G | ClinVar dbSNP gnomAD v4 |
7 | g.116759366T= | CA1737025213 | MET | c.2265-25T= (n.2265-25T=) c.2264+746T= (n.2264+746T=) c.2294T= (p.Val765=) c.105-25T= (n.105-25T=) c.975-25T= (n.975-25T=) c.2322-25T= (n.2322-25T=) n.2495+746T= | |
7 | g.116759367C>A | CA457217155 | MET | c.2265-24C>A (n.2265-24C>A) c.2264+747C>A (n.2264+747C>A) c.2295C>A (p.Val765=) c.105-24C>A (n.105-24C>A) c.975-24C>A (n.975-24C>A) c.2322-24C>A (n.2322-24C>A) n.2495+747C>A | dbSNP |
7 | g.116759367C= | CA1737025215 | MET | c.2265-24C= (n.2265-24C=) c.2264+747C= (n.2264+747C=) c.2295C= (p.Val765=) c.105-24C= (n.105-24C=) c.975-24C= (n.975-24C=) c.2322-24C= (n.2322-24C=) n.2495+747C= | |
7 | g.116759367C>G | CA457217156 | MET | c.2265-24C>G (n.2265-24C>G) c.2264+747C>G (n.2264+747C>G) c.2295C>G (p.Val765=) c.105-24C>G (n.105-24C>G) c.975-24C>G (n.975-24C>G) c.2322-24C>G (n.2322-24C>G) n.2495+747C>G | ClinVar dbSNP |
7 | g.116759367C>T | CA457217157 | MET | c.2265-24C>T (n.2265-24C>T) c.2264+747C>T (n.2264+747C>T) c.2295C>T (p.Val765=) c.105-24C>T (n.105-24C>T) c.975-24C>T (n.975-24C>T) c.2322-24C>T (n.2322-24C>T) n.2495+747C>T | ClinVar dbSNP |
7 | g.116759368A= | CA1737025221 | MET | c.2265-23A= (n.2265-23A=) c.2264+748A= (n.2264+748A=) c.2296A= (p.Ser766=) c.105-23A= (n.105-23A=) c.975-23A= (n.975-23A=) c.2322-23A= (n.2322-23A=) n.2495+748A= | |
7 | g.116759368A>C | CA368981675 | MET | c.2265-23A>C (n.2265-23A>C) c.2264+748A>C (n.2264+748A>C) c.2296A>C (p.Ser766Arg) c.105-23A>C (n.105-23A>C) c.975-23A>C (n.975-23A>C) c.2322-23A>C (n.2322-23A>C) n.2495+748A>C | |
7 | g.116759368A>G | CA4448445 | MET | c.2265-23A>G (n.2265-23A>G) c.2264+748A>G (n.2264+748A>G) c.2296A>G (p.Ser766Gly) c.105-23A>G (n.105-23A>G) c.975-23A>G (n.975-23A>G) c.2322-23A>G (n.2322-23A>G) n.2495+748A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759368A>T | CA368981682 | MET | c.2265-23A>T (n.2265-23A>T) c.2264+748A>T (n.2264+748A>T) c.2296A>T (p.Ser766Cys) c.105-23A>T (n.105-23A>T) c.975-23A>T (n.975-23A>T) c.2322-23A>T (n.2322-23A>T) n.2495+748A>T | dbSNP |
7 | g.116759369G>A | CA368981692 | MET | c.2265-22G>A (n.2265-22G>A) c.2264+749G>A (n.2264+749G>A) c.2297G>A (p.Ser766Asn) c.105-22G>A (n.105-22G>A) c.975-22G>A (n.975-22G>A) c.2322-22G>A (n.2322-22G>A) n.2495+749G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.116759369G>C | CA368981701 | MET | c.2265-22G>C (n.2265-22G>C) c.2264+749G>C (n.2264+749G>C) c.2297G>C (p.Ser766Thr) c.105-22G>C (n.105-22G>C) c.975-22G>C (n.975-22G>C) c.2322-22G>C (n.2322-22G>C) n.2495+749G>C | dbSNP |
7 | g.116759369G= | CA1737025233 | MET | c.2265-22G= (n.2265-22G=) c.2264+749G= (n.2264+749G=) c.2297G= (p.Ser766=) c.105-22G= (n.105-22G=) c.975-22G= (n.975-22G=) c.2322-22G= (n.2322-22G=) n.2495+749G= | |
7 | g.116759369G>T | CA368981707 | MET | c.2265-22G>T (n.2265-22G>T) c.2264+749G>T (n.2264+749G>T) c.2297G>T (p.Ser766Ile) c.105-22G>T (n.105-22G>T) c.975-22G>T (n.975-22G>T) c.2322-22G>T (n.2322-22G>T) n.2495+749G>T | |
7 | g.116759369_116759370delinsGT | CA1737025227 | MET | c.2265-22_2265-21delinsGT (n.2265-22_2265-21delinsGT) c.2264+749_2264+750delinsGT (n.2264+749_2264+750delinsGT) c.2297_2298delinsGT (p.Ser766=) c.105-22_105-21delinsGT (n.105-22_105-21delinsGT) c.975-22_975-21delinsGT (n.975-22_975-21delinsGT) c.2322-22_2322-21delinsGT (n.2322-22_2322-21delinsGT) n.2495+749_2495+750delinsGT | |
7 | g.116759370T>A | CA368981718 | MET | c.2265-21T>A (n.2265-21T>A) c.2264+750T>A (n.2264+750T>A) c.2298T>A (p.Ser766Arg) c.105-21T>A (n.105-21T>A) c.975-21T>A (n.975-21T>A) c.2322-21T>A (n.2322-21T>A) n.2495+750T>A | dbSNP |
7 | g.116759370T>C | CA164894974 | MET | c.2265-21T>C (n.2265-21T>C) c.2264+750T>C (n.2264+750T>C) c.2298T>C (p.Ser766=) c.105-21T>C (n.105-21T>C) c.975-21T>C (n.975-21T>C) c.2322-21T>C (n.2322-21T>C) n.2495+750T>C | dbSNP |
7 | g.116759370T>G | CA368981714 | MET | c.2265-21T>G (n.2265-21T>G) c.2264+750T>G (n.2264+750T>G) c.2298T>G (p.Ser766Arg) c.105-21T>G (n.105-21T>G) c.975-21T>G (n.975-21T>G) c.2322-21T>G (n.2322-21T>G) n.2495+750T>G | dbSNP |
7 | g.116759370T= | CA1737025240 | MET | c.2265-21T= (n.2265-21T=) c.2264+750T= (n.2264+750T=) c.2298T= (p.Ser766=) c.105-21T= (n.105-21T=) c.975-21T= (n.975-21T=) c.2322-21T= (n.2322-21T=) n.2495+750T= | |
7 | g.116759373del | CA4448446 | MET | c.2265-18del (n.2265-18del) c.2264+753del (n.2264+753del) c.2301del (p.Leu768TyrfsTer11) c.105-18del (n.105-18del) c.975-18del (n.975-18del) c.2322-18del (n.2322-18del) n.2495+753del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759371T>A | CA368981721 | MET | c.2265-20T>A (n.2265-20T>A) c.2264+751T>A (n.2264+751T>A) c.2299T>A (p.Phe767Ile) c.105-20T>A (n.105-20T>A) c.975-20T>A (n.975-20T>A) c.2322-20T>A (n.2322-20T>A) n.2495+751T>A | |
7 | g.116759371T>C | CA368981724 | MET | c.2265-20T>C (n.2265-20T>C) c.2264+751T>C (n.2264+751T>C) c.2299T>C (p.Phe767Leu) c.105-20T>C (n.105-20T>C) c.975-20T>C (n.975-20T>C) c.2322-20T>C (n.2322-20T>C) n.2495+751T>C | |
7 | g.116759371T>G | CA368981728 | MET | c.2265-20T>G (n.2265-20T>G) c.2264+751T>G (n.2264+751T>G) c.2299T>G (p.Phe767Val) c.105-20T>G (n.105-20T>G) c.975-20T>G (n.975-20T>G) c.2322-20T>G (n.2322-20T>G) n.2495+751T>G | |
7 | g.116759372T>A | CA368981732 | MET | c.2265-19T>A (n.2265-19T>A) c.2264+752T>A (n.2264+752T>A) c.2300T>A (p.Phe767Tyr) c.105-19T>A (n.105-19T>A) c.975-19T>A (n.975-19T>A) c.2322-19T>A (n.2322-19T>A) n.2495+752T>A | |
7 | g.116759372T>C | CA368981736 | MET | c.2265-19T>C (n.2265-19T>C) c.2264+752T>C (n.2264+752T>C) c.2300T>C (p.Phe767Ser) c.105-19T>C (n.105-19T>C) c.975-19T>C (n.975-19T>C) c.2322-19T>C (n.2322-19T>C) n.2495+752T>C | dbSNP |
7 | g.116759372T>G | CA368981740 | MET | c.2265-19T>G (n.2265-19T>G) c.2264+752T>G (n.2264+752T>G) c.2300T>G (p.Phe767Cys) c.105-19T>G (n.105-19T>G) c.975-19T>G (n.975-19T>G) c.2322-19T>G (n.2322-19T>G) n.2495+752T>G | |
7 | g.116759373T>A | CA368981744 | MET | c.2265-18T>A (n.2265-18T>A) c.2264+753T>A (n.2264+753T>A) c.2301T>A (p.Phe767Leu) c.105-18T>A (n.105-18T>A) c.975-18T>A (n.975-18T>A) c.2322-18T>A (n.2322-18T>A) n.2495+753T>A | dbSNP |
7 | g.116759373T>C | CA457217165 | MET | c.2265-18T>C (n.2265-18T>C) c.2264+753T>C (n.2264+753T>C) c.2301T>C (p.Phe767=) c.105-18T>C (n.105-18T>C) c.975-18T>C (n.975-18T>C) c.2322-18T>C (n.2322-18T>C) n.2495+753T>C | ClinVar dbSNP |
7 | g.116759373T>G | CA368981743 | MET | c.2265-18T>G (n.2265-18T>G) c.2264+753T>G (n.2264+753T>G) c.2301T>G (p.Phe767Leu) c.105-18T>G (n.105-18T>G) c.975-18T>G (n.975-18T>G) c.2322-18T>G (n.2322-18T>G) n.2495+753T>G | |
7 | g.116759373T= | CA1737025243 | MET | c.2265-18T= (n.2265-18T=) c.2264+753T= (n.2264+753T=) c.2301T= (p.Phe767=) c.105-18T= (n.105-18T=) c.975-18T= (n.975-18T=) c.2322-18T= (n.2322-18T=) n.2495+753T= | |
7 | g.116759374C>A | CA368981747 | MET | c.2265-17C>A (n.2265-17C>A) c.2264+754C>A (n.2264+754C>A) c.2302C>A (p.Leu768Ile) c.105-17C>A (n.105-17C>A) c.975-17C>A (n.975-17C>A) c.2322-17C>A (n.2322-17C>A) n.2495+754C>A | |
7 | g.116759374C= | CA1737025244 | MET | c.2265-17C= (n.2265-17C=) c.2264+754C= (n.2264+754C=) c.2302C= (p.Leu768=) c.105-17C= (n.105-17C=) c.975-17C= (n.975-17C=) c.2322-17C= (n.2322-17C=) n.2495+754C= | |
7 | g.116759374C>G | CA368981752 | MET | c.2265-17C>G (n.2265-17C>G) c.2264+754C>G (n.2264+754C>G) c.2302C>G (p.Leu768Val) c.105-17C>G (n.105-17C>G) c.975-17C>G (n.975-17C>G) c.2322-17C>G (n.2322-17C>G) n.2495+754C>G | dbSNP |
7 | g.116759374C>T | CA457217167 | MET | c.2265-17C>T (n.2265-17C>T) c.2264+754C>T (n.2264+754C>T) c.2302C>T (p.Leu768=) c.105-17C>T (n.105-17C>T) c.975-17C>T (n.975-17C>T) c.2322-17C>T (n.2322-17C>T) n.2495+754C>T | dbSNP |
7 | g.116759375T>A | CA368981757 | MET | c.2265-16T>A (n.2265-16T>A) c.2264+755T>A (n.2264+755T>A) c.2303T>A (p.Leu768Gln) c.105-16T>A (n.105-16T>A) c.975-16T>A (n.975-16T>A) c.2322-16T>A (n.2322-16T>A) n.2495+755T>A | |
7 | g.116759375T>C | CA368981764 | MET | c.2265-16T>C (n.2265-16T>C) c.2264+755T>C (n.2264+755T>C) c.2303T>C (p.Leu768Pro) c.105-16T>C (n.105-16T>C) c.975-16T>C (n.975-16T>C) c.2322-16T>C (n.2322-16T>C) n.2495+755T>C | dbSNP |
7 | g.116759375T>G | CA368981766 | MET | c.2265-16T>G (n.2265-16T>G) c.2264+755T>G (n.2264+755T>G) c.2303T>G (p.Leu768Arg) c.105-16T>G (n.105-16T>G) c.975-16T>G (n.975-16T>G) c.2322-16T>G (n.2322-16T>G) n.2495+755T>G | |
7 | g.116759376A= | CA1737025251 | MET | c.2265-15A= (n.2265-15A=) c.2264+756A= (n.2264+756A=) c.2304A= (p.Leu768=) c.105-15A= (n.105-15A=) c.975-15A= (n.975-15A=) c.2322-15A= (n.2322-15A=) n.2495+756A= | |
7 | g.116759376A>C | CA457217168 | MET | c.2265-15A>C (n.2265-15A>C) c.2264+756A>C (n.2264+756A>C) c.2304A>C (p.Leu768=) c.105-15A>C (n.105-15A>C) c.975-15A>C (n.975-15A>C) c.2322-15A>C (n.2322-15A>C) n.2495+756A>C | ClinVar dbSNP |
7 | g.116759376A>G | CA189198 | MET | c.2265-15A>G (n.2265-15A>G) c.2264+756A>G (n.2264+756A>G) c.2304A>G (p.Leu768=) c.105-15A>G (n.105-15A>G) c.975-15A>G (n.975-15A>G) c.2322-15A>G (n.2322-15A>G) n.2495+756A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.116759376A>T | CA457217169 | MET | c.2265-15A>T (n.2265-15A>T) c.2264+756A>T (n.2264+756A>T) c.2304A>T (p.Leu768=) c.105-15A>T (n.105-15A>T) c.975-15A>T (n.975-15A>T) c.2322-15A>T (n.2322-15A>T) n.2495+756A>T | |
7 | g.116759377T>A | CA368981786 | MET | c.2265-14T>A (n.2265-14T>A) c.2264+757T>A (n.2264+757T>A) c.2305T>A (p.Phe769Ile) c.105-14T>A (n.105-14T>A) c.975-14T>A (n.975-14T>A) c.2322-14T>A (n.2322-14T>A) n.2495+757T>A | |
7 | g.116759377T>C | CA368981776 | MET | c.2265-14T>C (n.2265-14T>C) c.2264+757T>C (n.2264+757T>C) c.2305T>C (p.Phe769Leu) c.105-14T>C (n.105-14T>C) c.975-14T>C (n.975-14T>C) c.2322-14T>C (n.2322-14T>C) n.2495+757T>C | gnomAD v4 |
7 | g.116759377T>G | CA368981784 | MET | c.2265-14T>G (n.2265-14T>G) c.2264+757T>G (n.2264+757T>G) c.2305T>G (p.Phe769Val) c.105-14T>G (n.105-14T>G) c.975-14T>G (n.975-14T>G) c.2322-14T>G (n.2322-14T>G) n.2495+757T>G | |
7 | g.116759378T>A | CA368981789 | MET | c.2265-13T>A (n.2265-13T>A) c.2264+758T>A (n.2264+758T>A) c.2306T>A (p.Phe769Tyr) c.105-13T>A (n.105-13T>A) c.975-13T>A (n.975-13T>A) c.2322-13T>A (n.2322-13T>A) n.2495+758T>A | |
7 | g.116759378T>C | CA368981792 | MET | c.2265-13T>C (n.2265-13T>C) c.2264+758T>C (n.2264+758T>C) c.2306T>C (p.Phe769Ser) c.105-13T>C (n.105-13T>C) c.975-13T>C (n.975-13T>C) c.2322-13T>C (n.2322-13T>C) n.2495+758T>C | |
7 | g.116759378T>G | CA368981813 | MET | c.2265-13T>G (n.2265-13T>G) c.2264+758T>G (n.2264+758T>G) c.2306T>G (p.Phe769Cys) c.105-13T>G (n.105-13T>G) c.975-13T>G (n.975-13T>G) c.2322-13T>G (n.2322-13T>G) n.2495+758T>G | |
7 | g.116759379T>A | CA368981817 | MET | c.2265-12T>A (n.2265-12T>A) c.2264+759T>A (n.2264+759T>A) c.2307T>A (p.Phe769Leu) c.105-12T>A (n.105-12T>A) c.975-12T>A (n.975-12T>A) c.2322-12T>A (n.2322-12T>A) n.2495+759T>A | |
7 | g.116759379T>C | CA457217171 | MET | c.2265-12T>C (n.2265-12T>C) c.2264+759T>C (n.2264+759T>C) c.2307T>C (p.Phe769=) c.105-12T>C (n.105-12T>C) c.975-12T>C (n.975-12T>C) c.2322-12T>C (n.2322-12T>C) n.2495+759T>C | dbSNP |
7 | g.116759379T>G | CA368981819 | MET | c.2265-12T>G (n.2265-12T>G) c.2264+759T>G (n.2264+759T>G) c.2307T>G (p.Phe769Leu) c.105-12T>G (n.105-12T>G) c.975-12T>G (n.975-12T>G) c.2322-12T>G (n.2322-12T>G) n.2495+759T>G | |
7 | g.116759380T>A | CA368981823 | MET | c.2265-11T>A (n.2265-11T>A) c.2264+760T>A (n.2264+760T>A) c.2308T>A (p.Cys770Ser) c.105-11T>A (n.105-11T>A) c.975-11T>A (n.975-11T>A) c.2322-11T>A (n.2322-11T>A) n.2495+760T>A | |
7 | g.116759380T>C | CA368981825 | MET | c.2265-11T>C (n.2265-11T>C) c.2264+760T>C (n.2264+760T>C) c.2308T>C (p.Cys770Arg) c.105-11T>C (n.105-11T>C) c.975-11T>C (n.975-11T>C) c.2322-11T>C (n.2322-11T>C) n.2495+760T>C | |
7 | g.116759380T>G | CA368981826 | MET | c.2265-11T>G (n.2265-11T>G) c.2264+760T>G (n.2264+760T>G) c.2308T>G (p.Cys770Gly) c.105-11T>G (n.105-11T>G) c.975-11T>G (n.975-11T>G) c.2322-11T>G (n.2322-11T>G) n.2495+760T>G | |
7 | g.116759381G>A | CA368981829 | MET | c.2265-10G>A (n.2265-10G>A) c.2264+761G>A (n.2264+761G>A) c.2309G>A (p.Cys770Tyr) c.105-10G>A (n.105-10G>A) c.975-10G>A (n.975-10G>A) c.2322-10G>A (n.2322-10G>A) n.2495+761G>A | dbSNP |
7 | g.116759381G>C | CA368981832 | MET | c.2265-10G>C (n.2265-10G>C) c.2264+761G>C (n.2264+761G>C) c.2309G>C (p.Cys770Ser) c.105-10G>C (n.105-10G>C) c.975-10G>C (n.975-10G>C) c.2322-10G>C (n.2322-10G>C) n.2495+761G>C | dbSNP |
7 | g.116759381G= | CA1737025267 | MET | c.2265-10G= (n.2265-10G=) c.2264+761G= (n.2264+761G=) c.2309G= (p.Cys770=) c.105-10G= (n.105-10G=) c.975-10G= (n.975-10G=) c.2322-10G= (n.2322-10G=) n.2495+761G= | |
7 | g.116759381G>T | CA368981835 | MET | c.2265-10G>T (n.2265-10G>T) c.2264+761G>T (n.2264+761G>T) c.2309G>T (p.Cys770Phe) c.105-10G>T (n.105-10G>T) c.975-10G>T (n.975-10G>T) c.2322-10G>T (n.2322-10G>T) n.2495+761G>T | ClinVar dbSNP gnomAD v2 |
7 | g.116759382C>A | CA368981840 | MET | c.2265-9C>A (n.2265-9C>A) c.2264+762C>A (n.2264+762C>A) c.2310C>A (p.Cys770Ter) c.105-9C>A (n.105-9C>A) c.975-9C>A (n.975-9C>A) c.2322-9C>A (n.2322-9C>A) n.2495+762C>A | dbSNP |
7 | g.116759382C>G | CA368981842 | MET | c.2265-9C>G (n.2265-9C>G) c.2264+762C>G (n.2264+762C>G) c.2310C>G (p.Cys770Trp) c.105-9C>G (n.105-9C>G) c.975-9C>G (n.975-9C>G) c.2322-9C>G (n.2322-9C>G) n.2495+762C>G | |
7 | g.116759382C>T | CA457217172 | MET | c.2265-9C>T (n.2265-9C>T) c.2264+762C>T (n.2264+762C>T) c.2310C>T (p.Cys770=) c.105-9C>T (n.105-9C>T) c.975-9C>T (n.975-9C>T) c.2322-9C>T (n.2322-9C>T) n.2495+762C>T | ClinVar dbSNP |
7 | g.116759383T>A | CA368981847 | MET | c.2265-8T>A (n.2265-8T>A) c.2264+763T>A (n.2264+763T>A) c.2311T>A (p.Phe771Ile) c.105-8T>A (n.105-8T>A) c.975-8T>A (n.975-8T>A) c.2322-8T>A (n.2322-8T>A) n.2495+763T>A | dbSNP |
7 | g.116759383T>C | CA368981853 | MET | c.2265-8T>C (n.2265-8T>C) c.2264+763T>C (n.2264+763T>C) c.2311T>C (p.Phe771Leu) c.105-8T>C (n.105-8T>C) c.975-8T>C (n.975-8T>C) c.2322-8T>C (n.2322-8T>C) n.2495+763T>C | dbSNP |
7 | g.116759383T>G | CA368981850 | MET | c.2265-8T>G (n.2265-8T>G) c.2264+763T>G (n.2264+763T>G) c.2311T>G (p.Phe771Val) c.105-8T>G (n.105-8T>G) c.975-8T>G (n.975-8T>G) c.2322-8T>G (n.2322-8T>G) n.2495+763T>G | |
7 | g.116759385_116759386insCTATTTT | CA2578998464 | MET | c.2265-6_2265-5insCTATTTT (n.2265-6_2265-5insCTATTTT) c.2264+765_2264+766insCTATTTT (n.2264+765_2264+766insCTATTTT) c.2313_2314insCTATTTT (p.Ala772LeufsTer20) c.105-6_105-5insCTATTTT (n.105-6_105-5insCTATTTT) c.975-6_975-5insCTATTTT (n.975-6_975-5insCTATTTT) c.2322-6_2322-5insCTATTTT (n.2322-6_2322-5insCTATTTT) n.2495+765_2495+766insCTATTTT | |
7 | g.116759384T>A | CA368981858 | MET | c.2265-7T>A (n.2265-7T>A) c.2264+764T>A (n.2264+764T>A) c.2312T>A (p.Phe771Tyr) c.105-7T>A (n.105-7T>A) c.975-7T>A (n.975-7T>A) c.2322-7T>A (n.2322-7T>A) n.2495+764T>A | dbSNP |
7 | g.116759384T>C | CA368981859 | MET | c.2265-7T>C (n.2265-7T>C) c.2264+764T>C (n.2264+764T>C) c.2312T>C (p.Phe771Ser) c.105-7T>C (n.105-7T>C) c.975-7T>C (n.975-7T>C) c.2322-7T>C (n.2322-7T>C) n.2495+764T>C | gnomAD v4 |
7 | g.116759384T>G | CA368981862 | MET | c.2265-7T>G (n.2265-7T>G) c.2264+764T>G (n.2264+764T>G) c.2312T>G (p.Phe771Cys) c.105-7T>G (n.105-7T>G) c.975-7T>G (n.975-7T>G) c.2322-7T>G (n.2322-7T>G) n.2495+764T>G | |
7 | g.116759385T>A | CA368981867 | MET | c.2265-6T>A (n.2265-6T>A) c.2264+765T>A (n.2264+765T>A) c.2313T>A (p.Phe771Leu) c.105-6T>A (n.105-6T>A) c.975-6T>A (n.975-6T>A) c.2322-6T>A (n.2322-6T>A) n.2495+765T>A | |
7 | g.116759385T>C | CA457217177 | MET | c.2265-6T>C (n.2265-6T>C) c.2264+765T>C (n.2264+765T>C) c.2313T>C (p.Phe771=) c.105-6T>C (n.105-6T>C) c.975-6T>C (n.975-6T>C) c.2322-6T>C (n.2322-6T>C) n.2495+765T>C | |
7 | g.116759385T>G | CA368981869 | MET | c.2265-6T>G (n.2265-6T>G) c.2264+765T>G (n.2264+765T>G) c.2313T>G (p.Phe771Leu) c.105-6T>G (n.105-6T>G) c.975-6T>G (n.975-6T>G) c.2322-6T>G (n.2322-6T>G) n.2495+765T>G | |
7 | g.116759386G>A | CA368981883 | MET | c.2265-5G>A (n.2265-5G>A) c.2264+766G>A (n.2264+766G>A) c.2314G>A (p.Ala772Thr) c.105-5G>A (n.105-5G>A) c.975-5G>A (n.975-5G>A) c.2322-5G>A (n.2322-5G>A) n.2495+766G>A | |
7 | g.116759386G>C | CA368981879 | MET | c.2265-5G>C (n.2265-5G>C) c.2264+766G>C (n.2264+766G>C) c.2314G>C (p.Ala772Pro) c.105-5G>C (n.105-5G>C) c.975-5G>C (n.975-5G>C) c.2322-5G>C (n.2322-5G>C) n.2495+766G>C | |
7 | g.116759386G>T | CA368981872 | MET | c.2265-5G>T (n.2265-5G>T) c.2264+766G>T (n.2264+766G>T) c.2314G>T (p.Ala772Ser) c.105-5G>T (n.105-5G>T) c.975-5G>T (n.975-5G>T) c.2322-5G>T (n.2322-5G>T) n.2495+766G>T | |
7 | g.116759387C>A | CA368981885 | MET | c.2265-4C>A (n.2265-4C>A) c.2264+767C>A (n.2264+767C>A) c.2315C>A (p.Ala772Asp) c.105-4C>A (n.105-4C>A) c.975-4C>A (n.975-4C>A) c.2322-4C>A (n.2322-4C>A) n.2495+767C>A | dbSNP |
7 | g.116759387C>G | CA368981886 | MET | c.2265-4C>G (n.2265-4C>G) c.2264+767C>G (n.2264+767C>G) c.2315C>G (p.Ala772Gly) c.105-4C>G (n.105-4C>G) c.975-4C>G (n.975-4C>G) c.2322-4C>G (n.2322-4C>G) n.2495+767C>G | dbSNP |
7 | g.116759387C>T | CA368981887 | MET | c.2265-4C>T (n.2265-4C>T) c.2264+767C>T (n.2264+767C>T) c.2315C>T (p.Ala772Val) c.105-4C>T (n.105-4C>T) c.975-4C>T (n.975-4C>T) c.2322-4C>T (n.2322-4C>T) n.2495+767C>T | dbSNP |
7 | g.116759388C>A | CA457217182 | MET | c.2265-3C>A (n.2265-3C>A) c.2264+768C>A (n.2264+768C>A) c.2316C>A (p.Ala772=) c.105-3C>A (n.105-3C>A) c.975-3C>A (n.975-3C>A) c.2322-3C>A (n.2322-3C>A) n.2495+768C>A | |
7 | g.116759388C>G | CA457217181 | MET | c.2265-3C>G (n.2265-3C>G) c.2264+768C>G (n.2264+768C>G) c.2316C>G (p.Ala772=) c.105-3C>G (n.105-3C>G) c.975-3C>G (n.975-3C>G) c.2322-3C>G (n.2322-3C>G) n.2495+768C>G | dbSNP |
7 | g.116759388C>T | CA457217180 | MET | c.2265-3C>T (n.2265-3C>T) c.2264+768C>T (n.2264+768C>T) c.2316C>T (p.Ala772=) c.105-3C>T (n.105-3C>T) c.975-3C>T (n.975-3C>T) c.2322-3C>T (n.2322-3C>T) n.2495+768C>T | ClinVar dbSNP |
7 | g.116759389A= | CA1737025280 | MET | c.2265-2A= (n.2265-2A=) c.2264+769A= (n.2264+769A=) c.2317A= (p.Ser773=) c.105-2A= (n.105-2A=) c.975-2A= (n.975-2A=) c.2322-2A= (n.2322-2A=) n.2495+769A= | |
7 | g.116759389A>C | CA368981888 | MET | c.2265-2A>C (n.2265-2A>C) c.2264+769A>C (n.2264+769A>C) c.2317A>C (p.Ser773Arg) c.105-2A>C (n.105-2A>C) c.975-2A>C (n.975-2A>C) c.2322-2A>C (n.2322-2A>C) n.2495+769A>C | ClinVar dbSNP gnomAD v4 |
7 | g.116759389A>G | CA368981891 | MET | c.2265-2A>G (n.2265-2A>G) c.2264+769A>G (n.2264+769A>G) c.2317A>G (p.Ser773Gly) c.105-2A>G (n.105-2A>G) c.975-2A>G (n.975-2A>G) c.2322-2A>G (n.2322-2A>G) n.2495+769A>G | ClinVar dbSNP gnomAD v4 |
7 | g.116759389A>T | CA368981893 | MET | c.2265-2A>T (n.2265-2A>T) c.2264+769A>T (n.2264+769A>T) c.2317A>T (p.Ser773Cys) c.105-2A>T (n.105-2A>T) c.975-2A>T (n.975-2A>T) c.2322-2A>T (n.2322-2A>T) n.2495+769A>T | |
7 | g.116759390G>A | CA368981895 | MET | c.2265-1G>A (n.2265-1G>A) c.2264+770G>A (n.2264+770G>A) c.2318G>A (p.Ser773Asn) c.105-1G>A (n.105-1G>A) c.975-1G>A (n.975-1G>A) c.2322-1G>A (n.2322-1G>A) n.2495+770G>A | ClinVar dbSNP |
7 | g.116759390G>C | CA368981901 | MET | c.2265-1G>C (n.2265-1G>C) c.2264+770G>C (n.2264+770G>C) c.2318G>C (p.Ser773Thr) c.105-1G>C (n.105-1G>C) c.975-1G>C (n.975-1G>C) c.2322-1G>C (n.2322-1G>C) n.2495+770G>C | dbSNP |
7 | g.116759390G>T | CA368981897 | MET | c.2265-1G>T (n.2265-1G>T) c.2264+770G>T (n.2264+770G>T) c.2318G>T (p.Ser773Ile) c.105-1G>T (n.105-1G>T) c.975-1G>T (n.975-1G>T) c.2322-1G>T (n.2322-1G>T) n.2495+770G>T | |
7 | g.116759391T>A | CA368981904 | MET | c.2265T>A (p.Ser755Arg) c.2264+771T>A (n.2264+771T>A) c.2319T>A (p.Ser773Arg) c.105T>A (p.Ser35Arg) c.975T>A (p.Ser325Arg) c.2322T>A (p.Ser774Arg) n.2495+771T>A | |
7 | g.116759391T>C | CA457217185 | MET | c.2265T>C (p.Ser755=) c.2264+771T>C (n.2264+771T>C) c.2319T>C (p.Ser773=) c.105T>C (p.Ser35=) c.975T>C (p.Ser325=) c.2322T>C (p.Ser774=) n.2495+771T>C | |
7 | g.116759391T>G | CA368981911 | MET | c.2265T>G (p.Ser755Arg) c.2264+771T>G (n.2264+771T>G) c.2319T>G (p.Ser773Arg) c.105T>G (p.Ser35Arg) c.975T>G (p.Ser325Arg) c.2322T>G (p.Ser774Arg) n.2495+771T>G | |
7 | g.116759392G>A | CA368981914 | MET | c.2266G>A (p.Gly756Ser) c.2264+772G>A (n.2264+772G>A) c.2320G>A (p.Gly774Ser) c.106G>A (p.Gly36Ser) c.976G>A (p.Gly326Ser) c.2323G>A (p.Gly775Ser) n.2495+772G>A | ClinVar dbSNP |
7 | g.116759392G>C | CA368981919 | MET | c.2266G>C (p.Gly756Arg) c.2264+772G>C (n.2264+772G>C) c.2320G>C (p.Gly774Arg) c.106G>C (p.Gly36Arg) c.976G>C (p.Gly326Arg) c.2323G>C (p.Gly775Arg) n.2495+772G>C | dbSNP |
7 | g.116759392G>T | CA368981922 | MET | c.2266G>T (p.Gly756Cys) c.2264+772G>T (n.2264+772G>T) c.2320G>T (p.Gly774Cys) c.106G>T (p.Gly36Cys) c.976G>T (p.Gly326Cys) c.2323G>T (p.Gly775Cys) n.2495+772G>T | dbSNP |
7 | g.116759393G>A | CA368981930 | MET | c.2267G>A (p.Gly756Asp) c.2264+773G>A (n.2264+773G>A) c.2321G>A (p.Gly774Asp) c.107G>A (p.Gly36Asp) c.977G>A (p.Gly326Asp) c.2324G>A (p.Gly775Asp) n.2495+773G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.116759393G>C | CA368981933 | MET | c.2267G>C (p.Gly756Ala) c.2264+773G>C (n.2264+773G>C) c.2321G>C (p.Gly774Ala) c.107G>C (p.Gly36Ala) c.977G>C (p.Gly326Ala) c.2324G>C (p.Gly775Ala) n.2495+773G>C | dbSNP |
7 | g.116759393G= | CA1737025282 | MET | c.2267G= (p.Gly756=) c.2264+773G= (n.2264+773G=) c.2321G= (p.Gly774=) c.107G= (p.Gly36=) c.977G= (p.Gly326=) c.2324G= (p.Gly775=) n.2495+773G= | |
7 | g.116759393G>T | CA368981936 | MET | c.2267G>T (p.Gly756Val) c.2264+773G>T (n.2264+773G>T) c.2321G>T (p.Gly774Val) c.107G>T (p.Gly36Val) c.977G>T (p.Gly326Val) c.2324G>T (p.Gly775Val) n.2495+773G>T | |
7 | g.116759394T>A | CA457217186 | MET | c.2268T>A (p.Gly756=) c.2264+774T>A (n.2264+774T>A) c.2322T>A (p.Gly774=) c.108T>A (p.Gly36=) c.978T>A (p.Gly326=) c.2325T>A (p.Gly775=) n.2495+774T>A | |
7 | g.116759394T>C | CA457217187 | MET | c.2268T>C (p.Gly756=) c.2264+774T>C (n.2264+774T>C) c.2322T>C (p.Gly774=) c.108T>C (p.Gly36=) c.978T>C (p.Gly326=) c.2325T>C (p.Gly775=) n.2495+774T>C | |
7 | g.116759394T>G | CA457217188 | MET | c.2268T>G (p.Gly756=) c.2264+774T>G (n.2264+774T>G) c.2322T>G (p.Gly774=) c.108T>G (p.Gly36=) c.978T>G (p.Gly326=) c.2325T>G (p.Gly775=) n.2495+774T>G | dbSNP |
7 | g.116759395G>A | CA368981938 | MET | c.2269G>A (p.Gly757Arg) c.2264+775G>A (n.2264+775G>A) c.2323G>A (p.Gly775Arg) c.109G>A (p.Gly37Arg) c.979G>A (p.Gly327Arg) c.2326G>A (p.Gly776Arg) n.2495+775G>A | dbSNP |
7 | g.116759395G>C | CA368981940 | MET | c.2269G>C (p.Gly757Arg) c.2264+775G>C (n.2264+775G>C) c.2323G>C (p.Gly775Arg) c.109G>C (p.Gly37Arg) c.979G>C (p.Gly327Arg) c.2326G>C (p.Gly776Arg) n.2495+775G>C | |
7 | g.116759395G>T | CA368981944 | MET | c.2269G>T (p.Gly757Trp) c.2264+775G>T (n.2264+775G>T) c.2323G>T (p.Gly775Trp) c.109G>T (p.Gly37Trp) c.979G>T (p.Gly327Trp) c.2326G>T (p.Gly776Trp) n.2495+775G>T | |
7 | g.116759396G>A | CA164895003 | MET | c.2270G>A (p.Gly757Glu) c.2264+776G>A (n.2264+776G>A) c.2324G>A (p.Gly775Glu) c.110G>A (p.Gly37Glu) c.980G>A (p.Gly327Glu) c.2327G>A (p.Gly776Glu) n.2495+776G>A | dbSNP |
7 | g.116759396G>C | CA368981948 | MET | c.2270G>C (p.Gly757Ala) c.2264+776G>C (n.2264+776G>C) c.2324G>C (p.Gly775Ala) c.110G>C (p.Gly37Ala) c.980G>C (p.Gly327Ala) c.2327G>C (p.Gly776Ala) n.2495+776G>C | gnomAD v4 |
7 | g.116759396G= | CA1737025283 | MET | c.2270G= (p.Gly757=) c.2264+776G= (n.2264+776G=) c.2324G= (p.Gly775=) c.110G= (p.Gly37=) c.980G= (p.Gly327=) c.2327G= (p.Gly776=) n.2495+776G= | |
7 | g.116759396G>T | CA368981951 | MET | c.2270G>T (p.Gly757Val) c.2264+776G>T (n.2264+776G>T) c.2324G>T (p.Gly775Val) c.110G>T (p.Gly37Val) c.980G>T (p.Gly327Val) c.2327G>T (p.Gly776Val) n.2495+776G>T | |
7 | g.116759397G>A | CA4448447 | MET | c.2271G>A (p.Gly757=) c.2264+777G>A (n.2264+777G>A) c.2325G>A (p.Gly775=) c.111G>A (p.Gly37=) c.981G>A (p.Gly327=) c.2328G>A (p.Gly776=) n.2495+777G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759397G>C | CA457217189 | MET | c.2271G>C (p.Gly757=) c.2264+777G>C (n.2264+777G>C) c.2325G>C (p.Gly775=) c.111G>C (p.Gly37=) c.981G>C (p.Gly327=) c.2328G>C (p.Gly776=) n.2495+777G>C | dbSNP |
7 | g.116759397G= | CA1737025290 | MET | c.2271G= (p.Gly757=) c.2264+777G= (n.2264+777G=) c.2325G= (p.Gly775=) c.111G= (p.Gly37=) c.981G= (p.Gly327=) c.2328G= (p.Gly776=) n.2495+777G= | |
7 | g.116759397G>T | CA457217190 | MET | c.2271G>T (p.Gly757=) c.2264+777G>T (n.2264+777G>T) c.2325G>T (p.Gly775=) c.111G>T (p.Gly37=) c.981G>T (p.Gly327=) c.2328G>T (p.Gly776=) n.2495+777G>T | ClinVar dbSNP gnomAD v4 |
7 | g.116759398A>C | CA368981962 | MET | c.2272A>C (p.Ser758Arg) c.2264+778A>C (n.2264+778A>C) c.2326A>C (p.Ser776Arg) c.112A>C (p.Ser38Arg) c.982A>C (p.Ser328Arg) c.2329A>C (p.Ser777Arg) n.2495+778A>C | dbSNP |
7 | g.116759398A>G | CA368981958 | MET | c.2272A>G (p.Ser758Gly) c.2264+778A>G (n.2264+778A>G) c.2326A>G (p.Ser776Gly) c.112A>G (p.Ser38Gly) c.982A>G (p.Ser328Gly) c.2329A>G (p.Ser777Gly) n.2495+778A>G | dbSNP |
7 | g.116759398A>T | CA368981961 | MET | c.2272A>T (p.Ser758Cys) c.2264+778A>T (n.2264+778A>T) c.2326A>T (p.Ser776Cys) c.112A>T (p.Ser38Cys) c.982A>T (p.Ser328Cys) c.2329A>T (p.Ser777Cys) n.2495+778A>T | dbSNP |
7 | g.116759399G>A | CA368981963 | MET | c.2273G>A (p.Ser758Asn) c.2264+779G>A (n.2264+779G>A) c.2327G>A (p.Ser776Asn) c.113G>A (p.Ser38Asn) c.983G>A (p.Ser328Asn) c.2330G>A (p.Ser777Asn) n.2495+779G>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759399G>C | CA368981964 | MET | c.2273G>C (p.Ser758Thr) c.2264+779G>C (n.2264+779G>C) c.2327G>C (p.Ser776Thr) c.113G>C (p.Ser38Thr) c.983G>C (p.Ser328Thr) c.2330G>C (p.Ser777Thr) n.2495+779G>C | dbSNP |
7 | g.116759399G>T | CA368981965 | MET | c.2273G>T (p.Ser758Ile) c.2264+779G>T (n.2264+779G>T) c.2327G>T (p.Ser776Ile) c.113G>T (p.Ser38Ile) c.983G>T (p.Ser328Ile) c.2330G>T (p.Ser777Ile) n.2495+779G>T | |
7 | g.116759400C>A | CA368981966 | MET | c.2274C>A (p.Ser758Arg) c.2264+780C>A (n.2264+780C>A) c.2328C>A (p.Ser776Arg) c.114C>A (p.Ser38Arg) c.984C>A (p.Ser328Arg) c.2331C>A (p.Ser777Arg) n.2495+780C>A | |
7 | g.116759400C= | CA1737025292 | MET | c.2274C= (p.Ser758=) c.2264+780C= (n.2264+780C=) c.2328C= (p.Ser776=) c.114C= (p.Ser38=) c.984C= (p.Ser328=) c.2331C= (p.Ser777=) n.2495+780C= | |
7 | g.116759400C>G | CA368981967 | MET | c.2274C>G (p.Ser758Arg) c.2264+780C>G (n.2264+780C>G) c.2328C>G (p.Ser776Arg) c.114C>G (p.Ser38Arg) c.984C>G (p.Ser328Arg) c.2331C>G (p.Ser777Arg) n.2495+780C>G | |
7 | g.116759400C>T | CA457217193 | MET | c.2274C>T (p.Ser758=) c.2264+780C>T (n.2264+780C>T) c.2328C>T (p.Ser776=) c.114C>T (p.Ser38=) c.984C>T (p.Ser328=) c.2331C>T (p.Ser777=) n.2495+780C>T | dbSNP gnomAD v4 |
7 | g.116759401A>C | CA368981968 | MET | c.2275A>C (p.Thr759Pro) c.2264+781A>C (n.2264+781A>C) c.2329A>C (p.Thr777Pro) c.115A>C (p.Thr39Pro) c.985A>C (p.Thr329Pro) c.2332A>C (p.Thr778Pro) n.2495+781A>C | dbSNP |
7 | g.116759401A>G | CA368981969 | MET | c.2275A>G (p.Thr759Ala) c.2264+781A>G (n.2264+781A>G) c.2329A>G (p.Thr777Ala) c.115A>G (p.Thr39Ala) c.985A>G (p.Thr329Ala) c.2332A>G (p.Thr778Ala) n.2495+781A>G | gnomAD v4 |
7 | g.116759401A>T | CA368981970 | MET | c.2275A>T (p.Thr759Ser) c.2264+781A>T (n.2264+781A>T) c.2329A>T (p.Thr777Ser) c.115A>T (p.Thr39Ser) c.985A>T (p.Thr329Ser) c.2332A>T (p.Thr778Ser) n.2495+781A>T | dbSNP |
7 | g.116759402C>A | CA368981971 | MET | c.2276C>A (p.Thr759Lys) c.2264+782C>A (n.2264+782C>A) c.2330C>A (p.Thr777Lys) c.116C>A (p.Thr39Lys) c.986C>A (p.Thr329Lys) c.2333C>A (p.Thr778Lys) n.2495+782C>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759402C= | CA1737025301 | MET | c.2276C= (p.Thr759=) c.2264+782C= (n.2264+782C=) c.2330C= (p.Thr777=) c.116C= (p.Thr39=) c.986C= (p.Thr329=) c.2333C= (p.Thr778=) n.2495+782C= | |
7 | g.116759402C>G | CA368981972 | MET | c.2276C>G (p.Thr759Arg) c.2264+782C>G (n.2264+782C>G) c.2330C>G (p.Thr777Arg) c.116C>G (p.Thr39Arg) c.986C>G (p.Thr329Arg) c.2333C>G (p.Thr778Arg) n.2495+782C>G | dbSNP |
7 | g.116759402C>T | CA368981973 | MET | c.2276C>T (p.Thr759Ile) c.2264+782C>T (n.2264+782C>T) c.2330C>T (p.Thr777Ile) c.116C>T (p.Thr39Ile) c.986C>T (p.Thr329Ile) c.2333C>T (p.Thr778Ile) n.2495+782C>T | ClinVar dbSNP |
7 | g.116759403A= | CA1737025308 | MET | c.2277A= (p.Thr759=) c.2264+783A= (n.2264+783A=) c.2331A= (p.Thr777=) c.117A= (p.Thr39=) c.987A= (p.Thr329=) c.2334A= (p.Thr778=) n.2495+783A= | |
7 | g.116759403A>C | CA457217196 | MET | c.2277A>C (p.Thr759=) c.2264+783A>C (n.2264+783A>C) c.2331A>C (p.Thr777=) c.117A>C (p.Thr39=) c.987A>C (p.Thr329=) c.2334A>C (p.Thr778=) n.2495+783A>C | |
7 | g.116759403A>G | CA457217197 | MET | c.2277A>G (p.Thr759=) c.2264+783A>G (n.2264+783A>G) c.2331A>G (p.Thr777=) c.117A>G (p.Thr39=) c.987A>G (p.Thr329=) c.2334A>G (p.Thr778=) n.2495+783A>G | ClinVar dbSNP |
7 | g.116759403A>T | CA457217198 | MET | c.2277A>T (p.Thr759=) c.2264+783A>T (n.2264+783A>T) c.2331A>T (p.Thr777=) c.117A>T (p.Thr39=) c.987A>T (p.Thr329=) c.2334A>T (p.Thr778=) n.2495+783A>T | dbSNP |
7 | g.116759404A= | CA1737025315 | MET | c.2278A= (p.Ile760=) c.2264+784A= (n.2264+784A=) c.2332A= (p.Ile778=) c.118A= (p.Ile40=) c.988A= (p.Ile330=) c.2335A= (p.Ile779=) n.2495+784A= | |
7 | g.116759404A>C | CA368981975 | MET | c.2278A>C (p.Ile760Leu) c.2264+784A>C (n.2264+784A>C) c.2332A>C (p.Ile778Leu) c.118A>C (p.Ile40Leu) c.988A>C (p.Ile330Leu) c.2335A>C (p.Ile779Leu) n.2495+784A>C | |
7 | g.116759404A>G | CA192028 | MET | c.2278A>G (p.Ile760Val) c.2264+784A>G (n.2264+784A>G) c.2332A>G (p.Ile778Val) c.118A>G (p.Ile40Val) c.988A>G (p.Ile330Val) c.2335A>G (p.Ile779Val) n.2495+784A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.116759404A>T | CA368981974 | MET | c.2278A>T (p.Ile760Leu) c.2264+784A>T (n.2264+784A>T) c.2332A>T (p.Ile778Leu) c.118A>T (p.Ile40Leu) c.988A>T (p.Ile330Leu) c.2335A>T (p.Ile779Leu) n.2495+784A>T | dbSNP |
7 | g.116759405T>A | CA368981976 | MET | c.2279T>A (p.Ile760Lys) c.2264+785T>A (n.2264+785T>A) c.2333T>A (p.Ile778Lys) c.119T>A (p.Ile40Lys) c.989T>A (p.Ile330Lys) c.2336T>A (p.Ile779Lys) n.2495+785T>A | dbSNP |
7 | g.116759405T>C | CA368981978 | MET | c.2279T>C (p.Ile760Thr) c.2264+785T>C (n.2264+785T>C) c.2333T>C (p.Ile778Thr) c.119T>C (p.Ile40Thr) c.989T>C (p.Ile330Thr) c.2336T>C (p.Ile779Thr) n.2495+785T>C | |
7 | g.116759405T>G | CA368981981 | MET | c.2279T>G (p.Ile760Arg) c.2264+785T>G (n.2264+785T>G) c.2333T>G (p.Ile778Arg) c.119T>G (p.Ile40Arg) c.989T>G (p.Ile330Arg) c.2336T>G (p.Ile779Arg) n.2495+785T>G | dbSNP |
7 | g.116759406A>C | CA457217202 | MET | c.2280A>C (p.Ile760=) c.2264+786A>C (n.2264+786A>C) c.2334A>C (p.Ile778=) c.120A>C (p.Ile40=) c.990A>C (p.Ile330=) c.2337A>C (p.Ile779=) n.2495+786A>C | |
7 | g.116759406A>G | CA368981984 | MET | c.2280A>G (p.Ile760Met) c.2264+786A>G (n.2264+786A>G) c.2334A>G (p.Ile778Met) c.120A>G (p.Ile40Met) c.990A>G (p.Ile330Met) c.2337A>G (p.Ile779Met) n.2495+786A>G | dbSNP |
7 | g.116759406A>T | CA457217203 | MET | c.2280A>T (p.Ile760=) c.2264+786A>T (n.2264+786A>T) c.2334A>T (p.Ile778=) c.120A>T (p.Ile40=) c.990A>T (p.Ile330=) c.2337A>T (p.Ile779=) n.2495+786A>T | ClinVar dbSNP |
7 | g.116759409_116759424del | CA2553843586 | MET | c.2283_2298del (p.Gly762Ter) c.2264+789_2264+804del (n.2264+789_2264+804del) c.2337_2352del (p.Gly780Ter) c.123_138del (p.Gly42Ter) c.993_1008del (p.Gly332Ter) c.2340_2355del (p.Gly781Ter) n.2495+789_2495+804del | |
7 | g.116759407A>C | CA368981988 | MET | c.2281A>C (p.Thr761Pro) c.2264+787A>C (n.2264+787A>C) c.2335A>C (p.Thr779Pro) c.121A>C (p.Thr41Pro) c.991A>C (p.Thr331Pro) c.2338A>C (p.Thr780Pro) n.2495+787A>C | dbSNP |
7 | g.116759407A>G | CA368981991 | MET | c.2281A>G (p.Thr761Ala) c.2264+787A>G (n.2264+787A>G) c.2335A>G (p.Thr779Ala) c.121A>G (p.Thr41Ala) c.991A>G (p.Thr331Ala) c.2338A>G (p.Thr780Ala) n.2495+787A>G | dbSNP |
7 | g.116759407A>T | CA368981993 | MET | c.2281A>T (p.Thr761Ser) c.2264+787A>T (n.2264+787A>T) c.2335A>T (p.Thr779Ser) c.121A>T (p.Thr41Ser) c.991A>T (p.Thr331Ser) c.2338A>T (p.Thr780Ser) n.2495+787A>T | dbSNP |
7 | g.116759408C>A | CA368981997 | MET | c.2282C>A (p.Thr761Lys) c.2264+788C>A (n.2264+788C>A) c.2336C>A (p.Thr779Lys) c.122C>A (p.Thr41Lys) c.992C>A (p.Thr331Lys) c.2339C>A (p.Thr780Lys) n.2495+788C>A | dbSNP |
7 | g.116759408C>G | CA368981999 | MET | c.2282C>G (p.Thr761Arg) c.2264+788C>G (n.2264+788C>G) c.2336C>G (p.Thr779Arg) c.122C>G (p.Thr41Arg) c.992C>G (p.Thr331Arg) c.2339C>G (p.Thr780Arg) n.2495+788C>G | dbSNP |
7 | g.116759408C>T | CA368982003 | MET | c.2282C>T (p.Thr761Ile) c.2264+788C>T (n.2264+788C>T) c.2336C>T (p.Thr779Ile) c.122C>T (p.Thr41Ile) c.992C>T (p.Thr331Ile) c.2339C>T (p.Thr780Ile) n.2495+788C>T | ClinVar dbSNP |
7 | g.116759409A= | CA1737025324 | MET | c.2283A= (p.Thr761=) c.2264+789A= (n.2264+789A=) c.2337A= (p.Thr779=) c.123A= (p.Thr41=) c.993A= (p.Thr331=) c.2340A= (p.Thr780=) n.2495+789A= | |
7 | g.116759409A>C | CA4448448 | MET | c.2283A>C (p.Thr761=) c.2264+789A>C (n.2264+789A>C) c.2337A>C (p.Thr779=) c.123A>C (p.Thr41=) c.993A>C (p.Thr331=) c.2340A>C (p.Thr780=) n.2495+789A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759409A>G | CA457217207 | MET | c.2283A>G (p.Thr761=) c.2264+789A>G (n.2264+789A>G) c.2337A>G (p.Thr779=) c.123A>G (p.Thr41=) c.993A>G (p.Thr331=) c.2340A>G (p.Thr780=) n.2495+789A>G | dbSNP |
7 | g.116759409A>T | CA457217208 | MET | c.2283A>T (p.Thr761=) c.2264+789A>T (n.2264+789A>T) c.2337A>T (p.Thr779=) c.123A>T (p.Thr41=) c.993A>T (p.Thr331=) c.2340A>T (p.Thr780=) n.2495+789A>T | dbSNP |
7 | g.116759410G>A | CA368982015 | MET | c.2284G>A (p.Gly762Ser) c.2264+790G>A (n.2264+790G>A) c.2338G>A (p.Gly780Ser) c.124G>A (p.Gly42Ser) c.994G>A (p.Gly332Ser) c.2341G>A (p.Gly781Ser) n.2495+790G>A | ClinVar dbSNP |
7 | g.116759410G>C | CA368982018 | MET | c.2284G>C (p.Gly762Arg) c.2264+790G>C (n.2264+790G>C) c.2338G>C (p.Gly780Arg) c.124G>C (p.Gly42Arg) c.994G>C (p.Gly332Arg) c.2341G>C (p.Gly781Arg) n.2495+790G>C | ClinVar dbSNP |
7 | g.116759410G= | CA1737025332 | MET | c.2284G= (p.Gly762=) c.2264+790G= (n.2264+790G=) c.2338G= (p.Gly780=) c.124G= (p.Gly42=) c.994G= (p.Gly332=) c.2341G= (p.Gly781=) n.2495+790G= | |
7 | g.116759410G>T | CA368982019 | MET | c.2284G>T (p.Gly762Cys) c.2264+790G>T (n.2264+790G>T) c.2338G>T (p.Gly780Cys) c.124G>T (p.Gly42Cys) c.994G>T (p.Gly332Cys) c.2341G>T (p.Gly781Cys) n.2495+790G>T | |
7 | g.116759411G>A | CA368982027 | MET | c.2285G>A (p.Gly762Asp) c.2264+791G>A (n.2264+791G>A) c.2339G>A (p.Gly780Asp) c.125G>A (p.Gly42Asp) c.995G>A (p.Gly332Asp) c.2342G>A (p.Gly781Asp) n.2495+791G>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759411G>C | CA16612152 | MET | c.2285G>C (p.Gly762Ala) c.2264+791G>C (n.2264+791G>C) c.2339G>C (p.Gly780Ala) c.125G>C (p.Gly42Ala) c.995G>C (p.Gly332Ala) c.2342G>C (p.Gly781Ala) n.2495+791G>C | ClinVar dbSNP |
7 | g.116759411G= | CA1737025337 | MET | c.2285G= (p.Gly762=) c.2264+791G= (n.2264+791G=) c.2339G= (p.Gly780=) c.125G= (p.Gly42=) c.995G= (p.Gly332=) c.2342G= (p.Gly781=) n.2495+791G= | |
7 | g.116759411G>T | CA368982023 | MET | c.2285G>T (p.Gly762Val) c.2264+791G>T (n.2264+791G>T) c.2339G>T (p.Gly780Val) c.125G>T (p.Gly42Val) c.995G>T (p.Gly332Val) c.2342G>T (p.Gly781Val) n.2495+791G>T | ClinVar |
7 | g.116759412T>A | CA457217217 | MET | c.2286T>A (p.Gly762=) c.2264+792T>A (n.2264+792T>A) c.2340T>A (p.Gly780=) c.126T>A (p.Gly42=) c.996T>A (p.Gly332=) c.2343T>A (p.Gly781=) n.2495+792T>A | dbSNP |
7 | g.116759412T>C | CA457217215 | MET | c.2286T>C (p.Gly762=) c.2264+792T>C (n.2264+792T>C) c.2340T>C (p.Gly780=) c.126T>C (p.Gly42=) c.996T>C (p.Gly332=) c.2343T>C (p.Gly781=) n.2495+792T>C | COSMIC |
7 | g.116759412T>G | CA457217213 | MET | c.2286T>G (p.Gly762=) c.2264+792T>G (n.2264+792T>G) c.2340T>G (p.Gly780=) c.126T>G (p.Gly42=) c.996T>G (p.Gly332=) c.2343T>G (p.Gly781=) n.2495+792T>G | dbSNP |
7 | g.116759413G>A | CA368982033 | MET | c.2287G>A (p.Val763Ile) c.2264+793G>A (n.2264+793G>A) c.2341G>A (p.Val781Ile) c.127G>A (p.Val43Ile) c.997G>A (p.Val333Ile) c.2344G>A (p.Val782Ile) n.2495+793G>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759413G>C | CA368982034 | MET | c.2287G>C (p.Val763Leu) c.2264+793G>C (n.2264+793G>C) c.2341G>C (p.Val781Leu) c.127G>C (p.Val43Leu) c.997G>C (p.Val333Leu) c.2344G>C (p.Val782Leu) n.2495+793G>C | dbSNP |
7 | g.116759413G>T | CA368982035 | MET | c.2287G>T (p.Val763Phe) c.2264+793G>T (n.2264+793G>T) c.2341G>T (p.Val781Phe) c.127G>T (p.Val43Phe) c.997G>T (p.Val333Phe) c.2344G>T (p.Val782Phe) n.2495+793G>T | |
7 | g.116759414T>A | CA368982036 | MET | c.2288T>A (p.Val763Asp) c.2264+794T>A (n.2264+794T>A) c.2342T>A (p.Val781Asp) c.128T>A (p.Val43Asp) c.998T>A (p.Val333Asp) c.2345T>A (p.Val782Asp) n.2495+794T>A | dbSNP |
7 | g.116759414T>C | CA368982038 | MET | c.2288T>C (p.Val763Ala) c.2264+794T>C (n.2264+794T>C) c.2342T>C (p.Val781Ala) c.128T>C (p.Val43Ala) c.998T>C (p.Val333Ala) c.2345T>C (p.Val782Ala) n.2495+794T>C | dbSNP |
7 | g.116759414T>G | CA368982039 | MET | c.2288T>G (p.Val763Gly) c.2264+794T>G (n.2264+794T>G) c.2342T>G (p.Val781Gly) c.128T>G (p.Val43Gly) c.998T>G (p.Val333Gly) c.2345T>G (p.Val782Gly) n.2495+794T>G | dbSNP |
7 | g.116759415T>A | CA457217222 | MET | c.2289T>A (p.Val763=) c.2264+795T>A (n.2264+795T>A) c.2343T>A (p.Val781=) c.129T>A (p.Val43=) c.999T>A (p.Val333=) c.2346T>A (p.Val782=) n.2495+795T>A | |
7 | g.116759415T>C | CA457217224 | MET | c.2289T>C (p.Val763=) c.2264+795T>C (n.2264+795T>C) c.2343T>C (p.Val781=) c.129T>C (p.Val43=) c.999T>C (p.Val333=) c.2346T>C (p.Val782=) n.2495+795T>C | |
7 | g.116759415T>G | CA457217225 | MET | c.2289T>G (p.Val763=) c.2264+795T>G (n.2264+795T>G) c.2343T>G (p.Val781=) c.129T>G (p.Val43=) c.999T>G (p.Val333=) c.2346T>G (p.Val782=) n.2495+795T>G | |
7 | g.116759416G>A | CA368982044 | MET | c.2290G>A (p.Gly764Arg) c.2264+796G>A (n.2264+796G>A) c.2344G>A (p.Gly782Arg) c.130G>A (p.Gly44Arg) c.1000G>A (p.Gly334Arg) c.2347G>A (p.Gly783Arg) n.2495+796G>A | dbSNP |
7 | g.116759416G>C | CA368982049 | MET | c.2290G>C (p.Gly764Arg) c.2264+796G>C (n.2264+796G>C) c.2344G>C (p.Gly782Arg) c.130G>C (p.Gly44Arg) c.1000G>C (p.Gly334Arg) c.2347G>C (p.Gly783Arg) n.2495+796G>C | dbSNP |
7 | g.116759416G>T | CA368982051 | MET | c.2290G>T (p.Gly764Trp) c.2264+796G>T (n.2264+796G>T) c.2344G>T (p.Gly782Trp) c.130G>T (p.Gly44Trp) c.1000G>T (p.Gly334Trp) c.2347G>T (p.Gly783Trp) n.2495+796G>T | |
7 | g.116759418dup | CA2684591313 | MET | c.2292dup (p.Lys765GlufsTer7) c.2264+798dup (n.2264+798dup) c.2346dup (p.Lys783GlufsTer7) c.132dup (p.Lys45GlufsTer7) c.1002dup (p.Lys335GlufsTer7) c.2349dup (p.Lys784GlufsTer7) n.2495+798dup | gnomAD v4 |
7 | g.116759417G>A | CA368982055 | MET | c.2291G>A (p.Gly764Glu) c.2264+797G>A (n.2264+797G>A) c.2345G>A (p.Gly782Glu) c.131G>A (p.Gly44Glu) c.1001G>A (p.Gly334Glu) c.2348G>A (p.Gly783Glu) n.2495+797G>A | dbSNP |
7 | g.116759417G>C | CA368982058 | MET | c.2291G>C (p.Gly764Ala) c.2264+797G>C (n.2264+797G>C) c.2345G>C (p.Gly782Ala) c.131G>C (p.Gly44Ala) c.1001G>C (p.Gly334Ala) c.2348G>C (p.Gly783Ala) n.2495+797G>C | dbSNP |
7 | g.116759417G>T | CA368982060 | MET | c.2291G>T (p.Gly764Val) c.2264+797G>T (n.2264+797G>T) c.2345G>T (p.Gly782Val) c.131G>T (p.Gly44Val) c.1001G>T (p.Gly334Val) c.2348G>T (p.Gly783Val) n.2495+797G>T | dbSNP |
7 | g.116759418G>A | CA457217227 | MET | c.2292G>A (p.Gly764=) c.2264+798G>A (n.2264+798G>A) c.2346G>A (p.Gly782=) c.132G>A (p.Gly44=) c.1002G>A (p.Gly334=) c.2349G>A (p.Gly783=) n.2495+798G>A | dbSNP |
7 | g.116759418G>C | CA457217232 | MET | c.2292G>C (p.Gly764=) c.2264+798G>C (n.2264+798G>C) c.2346G>C (p.Gly782=) c.132G>C (p.Gly44=) c.1002G>C (p.Gly334=) c.2349G>C (p.Gly783=) n.2495+798G>C | dbSNP |
7 | g.116759418G>T | CA457217229 | MET | c.2292G>T (p.Gly764=) c.2264+798G>T (n.2264+798G>T) c.2346G>T (p.Gly782=) c.132G>T (p.Gly44=) c.1002G>T (p.Gly334=) c.2349G>T (p.Gly783=) n.2495+798G>T | |
7 | g.116759419A= | CA1737025344 | MET | c.2293A= (p.Lys765=) c.2264+799A= (n.2264+799A=) c.2347A= (p.Lys783=) c.133A= (p.Lys45=) c.1003A= (p.Lys335=) c.2350A= (p.Lys784=) n.2495+799A= | |
7 | g.116759419A>C | CA368982071 | MET | c.2293A>C (p.Lys765Gln) c.2264+799A>C (n.2264+799A>C) c.2347A>C (p.Lys783Gln) c.133A>C (p.Lys45Gln) c.1003A>C (p.Lys335Gln) c.2350A>C (p.Lys784Gln) n.2495+799A>C | |
7 | g.116759419A>G | CA368982069 | MET | c.2293A>G (p.Lys765Glu) c.2264+799A>G (n.2264+799A>G) c.2347A>G (p.Lys783Glu) c.133A>G (p.Lys45Glu) c.1003A>G (p.Lys335Glu) c.2350A>G (p.Lys784Glu) n.2495+799A>G | ClinVar dbSNP |
7 | g.116759419A>T | CA368982065 | MET | c.2293A>T (p.Lys765Ter) c.2264+799A>T (n.2264+799A>T) c.2347A>T (p.Lys783Ter) c.133A>T (p.Lys45Ter) c.1003A>T (p.Lys335Ter) c.2350A>T (p.Lys784Ter) n.2495+799A>T | dbSNP |
7 | g.116759420A>C | CA368982076 | MET | c.2294A>C (p.Lys765Thr) c.2264+800A>C (n.2264+800A>C) c.2348A>C (p.Lys783Thr) c.134A>C (p.Lys45Thr) c.1004A>C (p.Lys335Thr) c.2351A>C (p.Lys784Thr) n.2495+800A>C | |
7 | g.116759420A>G | CA368982078 | MET | c.2294A>G (p.Lys765Arg) c.2264+800A>G (n.2264+800A>G) c.2348A>G (p.Lys783Arg) c.134A>G (p.Lys45Arg) c.1004A>G (p.Lys335Arg) c.2351A>G (p.Lys784Arg) n.2495+800A>G | |
7 | g.116759420A>T | CA368982081 | MET | c.2294A>T (p.Lys765Ile) c.2264+800A>T (n.2264+800A>T) c.2348A>T (p.Lys783Ile) c.134A>T (p.Lys45Ile) c.1004A>T (p.Lys335Ile) c.2351A>T (p.Lys784Ile) n.2495+800A>T | |
7 | g.116759421A>C | CA368982085 | MET | c.2295A>C (p.Lys765Asn) c.2264+801A>C (n.2264+801A>C) c.2349A>C (p.Lys783Asn) c.135A>C (p.Lys45Asn) c.1005A>C (p.Lys335Asn) c.2352A>C (p.Lys784Asn) n.2495+801A>C | |
7 | g.116759421A>G | CA457217237 | MET | c.2295A>G (p.Lys765=) c.2264+801A>G (n.2264+801A>G) c.2349A>G (p.Lys783=) c.135A>G (p.Lys45=) c.1005A>G (p.Lys335=) c.2352A>G (p.Lys784=) n.2495+801A>G | |
7 | g.116759421A>T | CA368982088 | MET | c.2295A>T (p.Lys765Asn) c.2264+801A>T (n.2264+801A>T) c.2349A>T (p.Lys783Asn) c.135A>T (p.Lys45Asn) c.1005A>T (p.Lys335Asn) c.2352A>T (p.Lys784Asn) n.2495+801A>T | |
7 | g.116759422A>C | CA368982093 | MET | c.2296A>C (p.Asn766His) c.2264+802A>C (n.2264+802A>C) c.2350A>C (p.Asn784His) c.136A>C (p.Asn46His) c.1006A>C (p.Asn336His) c.2353A>C (p.Asn785His) n.2495+802A>C | |
7 | g.116759422A>G | CA368982097 | MET | c.2296A>G (p.Asn766Asp) c.2264+802A>G (n.2264+802A>G) c.2350A>G (p.Asn784Asp) c.136A>G (p.Asn46Asp) c.1006A>G (p.Asn336Asp) c.2353A>G (p.Asn785Asp) n.2495+802A>G | |
7 | g.116759422A>T | CA368982100 | MET | c.2296A>T (p.Asn766Tyr) c.2264+802A>T (n.2264+802A>T) c.2350A>T (p.Asn784Tyr) c.136A>T (p.Asn46Tyr) c.1006A>T (p.Asn336Tyr) c.2353A>T (p.Asn785Tyr) n.2495+802A>T | dbSNP |
7 | g.116759423A>C | CA368982112 | MET | c.2297A>C (p.Asn766Thr) c.2264+803A>C (n.2264+803A>C) c.2351A>C (p.Asn784Thr) c.137A>C (p.Asn46Thr) c.1007A>C (p.Asn336Thr) c.2354A>C (p.Asn785Thr) n.2495+803A>C | dbSNP |
7 | g.116759423A>G | CA368982115 | MET | c.2297A>G (p.Asn766Ser) c.2264+803A>G (n.2264+803A>G) c.2351A>G (p.Asn784Ser) c.137A>G (p.Asn46Ser) c.1007A>G (p.Asn336Ser) c.2354A>G (p.Asn785Ser) n.2495+803A>G | |
7 | g.116759423A>T | CA368982125 | MET | c.2297A>T (p.Asn766Ile) c.2264+803A>T (n.2264+803A>T) c.2351A>T (p.Asn784Ile) c.137A>T (p.Asn46Ile) c.1007A>T (p.Asn336Ile) c.2354A>T (p.Asn785Ile) n.2495+803A>T | dbSNP |
7 | g.116759424C>A | CA368982134 | MET | c.2298C>A (p.Asn766Lys) c.2264+804C>A (n.2264+804C>A) c.2352C>A (p.Asn784Lys) c.138C>A (p.Asn46Lys) c.1008C>A (p.Asn336Lys) c.2355C>A (p.Asn785Lys) n.2495+804C>A | ClinVar |
7 | g.116759424C>G | CA368982136 | MET | c.2298C>G (p.Asn766Lys) c.2264+804C>G (n.2264+804C>G) c.2352C>G (p.Asn784Lys) c.138C>G (p.Asn46Lys) c.1008C>G (p.Asn336Lys) c.2355C>G (p.Asn785Lys) n.2495+804C>G | gnomAD v4 |
7 | g.116759424C>T | CA457217245 | MET | c.2298C>T (p.Asn766=) c.2264+804C>T (n.2264+804C>T) c.2352C>T (p.Asn784=) c.138C>T (p.Asn46=) c.1008C>T (p.Asn336=) c.2355C>T (p.Asn785=) n.2495+804C>T | gnomAD v4 |
7 | g.116759425C>A | CA368982149 | MET | c.2299C>A (p.Leu767Met) c.2264+805C>A (n.2264+805C>A) c.2353C>A (p.Leu785Met) c.139C>A (p.Leu47Met) c.1009C>A (p.Leu337Met) c.2356C>A (p.Leu786Met) n.2495+805C>A | dbSNP |
7 | g.116759425C= | CA1737025353 | MET | c.2299C= (p.Leu767=) c.2264+805C= (n.2264+805C=) c.2353C= (p.Leu785=) c.139C= (p.Leu47=) c.1009C= (p.Leu337=) c.2356C= (p.Leu786=) n.2495+805C= | |
7 | g.116759425C>G | CA368982152 | MET | c.2299C>G (p.Leu767Val) c.2264+805C>G (n.2264+805C>G) c.2353C>G (p.Leu785Val) c.139C>G (p.Leu47Val) c.1009C>G (p.Leu337Val) c.2356C>G (p.Leu786Val) n.2495+805C>G | ClinVar dbSNP |
7 | g.116759425C>T | CA457217247 | MET | c.2299C>T (p.Leu767=) c.2264+805C>T (n.2264+805C>T) c.2353C>T (p.Leu785=) c.139C>T (p.Leu47=) c.1009C>T (p.Leu337=) c.2356C>T (p.Leu786=) n.2495+805C>T | dbSNP |
7 | g.116759426T>A | CA368982164 | MET | c.2300T>A (p.Leu767Gln) c.2264+806T>A (n.2264+806T>A) c.2354T>A (p.Leu785Gln) c.140T>A (p.Leu47Gln) c.1010T>A (p.Leu337Gln) c.2357T>A (p.Leu786Gln) n.2495+806T>A | dbSNP |
7 | g.116759426T>C | CA368982169 | MET | c.2300T>C (p.Leu767Pro) c.2264+806T>C (n.2264+806T>C) c.2354T>C (p.Leu785Pro) c.140T>C (p.Leu47Pro) c.1010T>C (p.Leu337Pro) c.2357T>C (p.Leu786Pro) n.2495+806T>C | dbSNP |
7 | g.116759426T>G | CA368982166 | MET | c.2300T>G (p.Leu767Arg) c.2264+806T>G (n.2264+806T>G) c.2354T>G (p.Leu785Arg) c.140T>G (p.Leu47Arg) c.1010T>G (p.Leu337Arg) c.2357T>G (p.Leu786Arg) n.2495+806T>G | |
7 | g.116759427G>A | CA457217248 | MET | c.2301G>A (p.Leu767=) c.2264+807G>A (n.2264+807G>A) c.2355G>A (p.Leu785=) c.141G>A (p.Leu47=) c.1011G>A (p.Leu337=) c.2358G>A (p.Leu786=) n.2495+807G>A | dbSNP |
7 | g.116759427G>C | CA457217249 | MET | c.2301G>C (p.Leu767=) c.2264+807G>C (n.2264+807G>C) c.2355G>C (p.Leu785=) c.141G>C (p.Leu47=) c.1011G>C (p.Leu337=) c.2358G>C (p.Leu786=) n.2495+807G>C | dbSNP |
7 | g.116759427G>T | CA457217251 | MET | c.2301G>T (p.Leu767=) c.2264+807G>T (n.2264+807G>T) c.2355G>T (p.Leu785=) c.141G>T (p.Leu47=) c.1011G>T (p.Leu337=) c.2358G>T (p.Leu786=) n.2495+807G>T | |
7 | g.116759428A= | CA1737025358 | MET | c.2302A= (p.Asn768=) c.2264+808A= (n.2264+808A=) c.2356A= (p.Asn786=) c.142A= (p.Asn48=) c.1012A= (p.Asn338=) c.2359A= (p.Asn787=) n.2495+808A= | |
7 | g.116759428A>C | CA368982173 | MET | c.2302A>C (p.Asn768His) c.2264+808A>C (n.2264+808A>C) c.2356A>C (p.Asn786His) c.142A>C (p.Asn48His) c.1012A>C (p.Asn338His) c.2359A>C (p.Asn787His) n.2495+808A>C | |
7 | g.116759428A>G | CA164895013 | MET | c.2302A>G (p.Asn768Asp) c.2264+808A>G (n.2264+808A>G) c.2356A>G (p.Asn786Asp) c.142A>G (p.Asn48Asp) c.1012A>G (p.Asn338Asp) c.2359A>G (p.Asn787Asp) n.2495+808A>G | dbSNP |
7 | g.116759428A>T | CA368982180 | MET | c.2302A>T (p.Asn768Tyr) c.2264+808A>T (n.2264+808A>T) c.2356A>T (p.Asn786Tyr) c.142A>T (p.Asn48Tyr) c.1012A>T (p.Asn338Tyr) c.2359A>T (p.Asn787Tyr) n.2495+808A>T | dbSNP |
7 | g.116759429A= | CA1737025367 | MET | c.2303A= (p.Asn768=) c.2264+809A= (n.2264+809A=) c.2357A= (p.Asn786=) c.143A= (p.Asn48=) c.1013A= (p.Asn338=) c.2360A= (p.Asn787=) n.2495+809A= | |
7 | g.116759429A>C | CA368982185 | MET | c.2303A>C (p.Asn768Thr) c.2264+809A>C (n.2264+809A>C) c.2357A>C (p.Asn786Thr) c.143A>C (p.Asn48Thr) c.1013A>C (p.Asn338Thr) c.2360A>C (p.Asn787Thr) n.2495+809A>C | dbSNP |
7 | g.116759429A>G | CA4448449 | MET | c.2303A>G (p.Asn768Ser) c.2264+809A>G (n.2264+809A>G) c.2357A>G (p.Asn786Ser) c.143A>G (p.Asn48Ser) c.1013A>G (p.Asn338Ser) c.2360A>G (p.Asn787Ser) n.2495+809A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759429A>T | CA368982194 | MET | c.2303A>T (p.Asn768Ile) c.2264+809A>T (n.2264+809A>T) c.2357A>T (p.Asn786Ile) c.143A>T (p.Asn48Ile) c.1013A>T (p.Asn338Ile) c.2360A>T (p.Asn787Ile) n.2495+809A>T | |
7 | g.116759430T>A | CA368982205 | MET | c.2304T>A (p.Asn768Lys) c.2264+810T>A (n.2264+810T>A) c.2358T>A (p.Asn786Lys) c.144T>A (p.Asn48Lys) c.1014T>A (p.Asn338Lys) c.2361T>A (p.Asn787Lys) n.2495+810T>A | dbSNP |
7 | g.116759430T>C | CA457217254 | MET | c.2304T>C (p.Asn768=) c.2264+810T>C (n.2264+810T>C) c.2358T>C (p.Asn786=) c.144T>C (p.Asn48=) c.1014T>C (p.Asn338=) c.2361T>C (p.Asn787=) n.2495+810T>C | ClinVar dbSNP |
7 | g.116759430T>G | CA368982206 | MET | c.2304T>G (p.Asn768Lys) c.2264+810T>G (n.2264+810T>G) c.2358T>G (p.Asn786Lys) c.144T>G (p.Asn48Lys) c.1014T>G (p.Asn338Lys) c.2361T>G (p.Asn787Lys) n.2495+810T>G | |
7 | g.116759431T>A | CA368982210 | MET | c.2305T>A (p.Ser769Thr) c.2264+811T>A (n.2264+811T>A) c.2359T>A (p.Ser787Thr) c.145T>A (p.Ser49Thr) c.1015T>A (p.Ser339Thr) c.2362T>A (p.Ser788Thr) n.2495+811T>A | dbSNP |
7 | g.116759431T>C | CA368982214 | MET | c.2305T>C (p.Ser769Pro) c.2264+811T>C (n.2264+811T>C) c.2359T>C (p.Ser787Pro) c.145T>C (p.Ser49Pro) c.1015T>C (p.Ser339Pro) c.2362T>C (p.Ser788Pro) n.2495+811T>C | |
7 | g.116759431T>G | CA368982218 | MET | c.2305T>G (p.Ser769Ala) c.2264+811T>G (n.2264+811T>G) c.2359T>G (p.Ser787Ala) c.145T>G (p.Ser49Ala) c.1015T>G (p.Ser339Ala) c.2362T>G (p.Ser788Ala) n.2495+811T>G | |
7 | g.116759432C>A | CA368982243 | MET | c.2306C>A (p.Ser769Ter) c.2264+812C>A (n.2264+812C>A) c.2360C>A (p.Ser787Ter) c.146C>A (p.Ser49Ter) c.1016C>A (p.Ser339Ter) c.2363C>A (p.Ser788Ter) n.2495+812C>A | dbSNP |
7 | g.116759432C>G | CA368982233 | MET | c.2306C>G (p.Ser769Ter) c.2264+812C>G (n.2264+812C>G) c.2360C>G (p.Ser787Ter) c.146C>G (p.Ser49Ter) c.1016C>G (p.Ser339Ter) c.2363C>G (p.Ser788Ter) n.2495+812C>G | dbSNP |
7 | g.116759432C>T | CA368982222 | MET | c.2306C>T (p.Ser769Leu) c.2264+812C>T (n.2264+812C>T) c.2360C>T (p.Ser787Leu) c.146C>T (p.Ser49Leu) c.1016C>T (p.Ser339Leu) c.2363C>T (p.Ser788Leu) n.2495+812C>T | dbSNP |
7 | g.116759433A>C | CA457217260 | MET | c.2307A>C (p.Ser769=) c.2264+813A>C (n.2264+813A>C) c.2361A>C (p.Ser787=) c.147A>C (p.Ser49=) c.1017A>C (p.Ser339=) c.2364A>C (p.Ser788=) n.2495+813A>C | |
7 | g.116759433A>G | CA457217258 | MET | c.2307A>G (p.Ser769=) c.2264+813A>G (n.2264+813A>G) c.2361A>G (p.Ser787=) c.147A>G (p.Ser49=) c.1017A>G (p.Ser339=) c.2364A>G (p.Ser788=) n.2495+813A>G | ClinVar dbSNP |
7 | g.116759433A>T | CA457217259 | MET | c.2307A>T (p.Ser769=) c.2264+813A>T (n.2264+813A>T) c.2361A>T (p.Ser787=) c.147A>T (p.Ser49=) c.1017A>T (p.Ser339=) c.2364A>T (p.Ser788=) n.2495+813A>T | dbSNP |
7 | g.116759434G>A | CA368982246 | MET | c.2308G>A (p.Val770Ile) c.2264+814G>A (n.2264+814G>A) c.2362G>A (p.Val788Ile) c.148G>A (p.Val50Ile) c.1018G>A (p.Val340Ile) c.2365G>A (p.Val789Ile) n.2495+814G>A | ClinVar gnomAD v4 |
7 | g.116759434G>C | CA368982248 | MET | c.2308G>C (p.Val770Leu) c.2264+814G>C (n.2264+814G>C) c.2362G>C (p.Val788Leu) c.148G>C (p.Val50Leu) c.1018G>C (p.Val340Leu) c.2365G>C (p.Val789Leu) n.2495+814G>C | |
7 | g.116759434G>T | CA368982250 | MET | c.2308G>T (p.Val770Phe) c.2264+814G>T (n.2264+814G>T) c.2362G>T (p.Val788Phe) c.148G>T (p.Val50Phe) c.1018G>T (p.Val340Phe) c.2365G>T (p.Val789Phe) n.2495+814G>T | |
7 | g.116759435T>A | CA368982254 | MET | c.2309T>A (p.Val770Asp) c.2264+815T>A (n.2264+815T>A) c.2363T>A (p.Val788Asp) c.149T>A (p.Val50Asp) c.1019T>A (p.Val340Asp) c.2366T>A (p.Val789Asp) n.2495+815T>A | dbSNP |
7 | g.116759435T>C | CA368982257 | MET | c.2309T>C (p.Val770Ala) c.2264+815T>C (n.2264+815T>C) c.2363T>C (p.Val788Ala) c.149T>C (p.Val50Ala) c.1019T>C (p.Val340Ala) c.2366T>C (p.Val789Ala) n.2495+815T>C | |
7 | g.116759435T>G | CA368982260 | MET | c.2309T>G (p.Val770Gly) c.2264+815T>G (n.2264+815T>G) c.2363T>G (p.Val788Gly) c.149T>G (p.Val50Gly) c.1019T>G (p.Val340Gly) c.2366T>G (p.Val789Gly) n.2495+815T>G | |
7 | g.116759436T>A | CA457217262 | MET | c.2310T>A (p.Val770=) c.2264+816T>A (n.2264+816T>A) c.2364T>A (p.Val788=) c.150T>A (p.Val50=) c.1020T>A (p.Val340=) c.2367T>A (p.Val789=) n.2495+816T>A | dbSNP |
7 | g.116759436T>C | CA457217263 | MET | c.2310T>C (p.Val770=) c.2264+816T>C (n.2264+816T>C) c.2364T>C (p.Val788=) c.150T>C (p.Val50=) c.1020T>C (p.Val340=) c.2367T>C (p.Val789=) n.2495+816T>C | dbSNP |
7 | g.116759436T>G | CA457217264 | MET | c.2310T>G (p.Val770=) c.2264+816T>G (n.2264+816T>G) c.2364T>G (p.Val788=) c.150T>G (p.Val50=) c.1020T>G (p.Val340=) c.2367T>G (p.Val789=) n.2495+816T>G | |
7 | g.116759437A>C | CA368982272 | MET | c.2311A>C (p.Ser771Arg) c.2264+817A>C (n.2264+817A>C) c.2365A>C (p.Ser789Arg) c.151A>C (p.Ser51Arg) c.1021A>C (p.Ser341Arg) c.2368A>C (p.Ser790Arg) n.2495+817A>C | |
7 | g.116759437A>G | CA368982275 | MET | c.2311A>G (p.Ser771Gly) c.2264+817A>G (n.2264+817A>G) c.2365A>G (p.Ser789Gly) c.151A>G (p.Ser51Gly) c.1021A>G (p.Ser341Gly) c.2368A>G (p.Ser790Gly) n.2495+817A>G | ClinVar |
7 | g.116759437A>T | CA368982282 | MET | c.2311A>T (p.Ser771Cys) c.2264+817A>T (n.2264+817A>T) c.2365A>T (p.Ser789Cys) c.151A>T (p.Ser51Cys) c.1021A>T (p.Ser341Cys) c.2368A>T (p.Ser790Cys) n.2495+817A>T | dbSNP |
7 | g.116759437_116759440del | CA2573141518 | MET | c.2311_2314del (p.Val772ArgfsTer5) c.2264+817_2264+820del (n.2264+817_2264+820del) c.2365_2368del (p.Val790ArgfsTer5) c.151_154del (p.Val52ArgfsTer5) c.1021_1024del (p.Val342ArgfsTer5) c.2368_2371del (p.Val791ArgfsTer5) n.2495+817_2495+820del | ClinVar dbSNP |
7 | g.116759438G>A | CA368982288 | MET | c.2312G>A (p.Ser771Asn) c.2264+818G>A (n.2264+818G>A) c.2366G>A (p.Ser789Asn) c.152G>A (p.Ser51Asn) c.1022G>A (p.Ser341Asn) c.2369G>A (p.Ser790Asn) n.2495+818G>A | ClinVar dbSNP |
7 | g.116759438G>C | CA368982290 | MET | c.2312G>C (p.Ser771Thr) c.2264+818G>C (n.2264+818G>C) c.2366G>C (p.Ser789Thr) c.152G>C (p.Ser51Thr) c.1022G>C (p.Ser341Thr) c.2369G>C (p.Ser790Thr) n.2495+818G>C | dbSNP |
7 | g.116759438G>T | CA368982292 | MET | c.2312G>T (p.Ser771Ile) c.2264+818G>T (n.2264+818G>T) c.2366G>T (p.Ser789Ile) c.152G>T (p.Ser51Ile) c.1022G>T (p.Ser341Ile) c.2369G>T (p.Ser790Ile) n.2495+818G>T | dbSNP |
7 | g.116759438_116759441del | CA2573141519 | MET | c.2312_2315del (p.Ser771ThrfsTer6) c.2264+818_2264+821del (n.2264+818_2264+821del) c.2366_2369del (p.Ser789ThrfsTer6) c.152_155del (p.Ser51ThrfsTer6) c.1022_1025del (p.Ser341ThrfsTer6) c.2369_2372del (p.Ser790ThrfsTer6) n.2495+818_2495+821del | ClinVar dbSNP |
7 | g.116759439T>A | CA368982298 | MET | c.2313T>A (p.Ser771Arg) c.2264+819T>A (n.2264+819T>A) c.2367T>A (p.Ser789Arg) c.153T>A (p.Ser51Arg) c.1023T>A (p.Ser341Arg) c.2370T>A (p.Ser790Arg) n.2495+819T>A | dbSNP |
7 | g.116759439T>C | CA457217272 | MET | c.2313T>C (p.Ser771=) c.2264+819T>C (n.2264+819T>C) c.2367T>C (p.Ser789=) c.153T>C (p.Ser51=) c.1023T>C (p.Ser341=) c.2370T>C (p.Ser790=) n.2495+819T>C | |
7 | g.116759439T>G | CA368982296 | MET | c.2313T>G (p.Ser771Arg) c.2264+819T>G (n.2264+819T>G) c.2367T>G (p.Ser789Arg) c.153T>G (p.Ser51Arg) c.1023T>G (p.Ser341Arg) c.2370T>G (p.Ser790Arg) n.2495+819T>G | |
7 | g.116759440G>A | CA368982300 | MET | c.2314G>A (p.Val772Ile) c.2264+820G>A (n.2264+820G>A) c.2368G>A (p.Val790Ile) c.154G>A (p.Val52Ile) c.1024G>A (p.Val342Ile) c.2371G>A (p.Val791Ile) n.2495+820G>A | ClinVar dbSNP gnomAD v4 |
7 | g.116759440G>C | CA368982302 | MET | c.2314G>C (p.Val772Leu) c.2264+820G>C (n.2264+820G>C) c.2368G>C (p.Val790Leu) c.154G>C (p.Val52Leu) c.1024G>C (p.Val342Leu) c.2371G>C (p.Val791Leu) n.2495+820G>C | dbSNP |
7 | g.116759440G>T | CA368982304 | MET | c.2314G>T (p.Val772Phe) c.2264+820G>T (n.2264+820G>T) c.2368G>T (p.Val790Phe) c.154G>T (p.Val52Phe) c.1024G>T (p.Val342Phe) c.2371G>T (p.Val791Phe) n.2495+820G>T | |
7 | g.116759441T>A | CA368982310 | MET | c.2315T>A (p.Val772Asp) c.2264+821T>A (n.2264+821T>A) c.2369T>A (p.Val790Asp) c.155T>A (p.Val52Asp) c.1025T>A (p.Val342Asp) c.2372T>A (p.Val791Asp) n.2495+821T>A | dbSNP |
7 | g.116759441T>C | CA368982311 | MET | c.2315T>C (p.Val772Ala) c.2264+821T>C (n.2264+821T>C) c.2369T>C (p.Val790Ala) c.155T>C (p.Val52Ala) c.1025T>C (p.Val342Ala) c.2372T>C (p.Val791Ala) n.2495+821T>C | |
7 | g.116759441T>G | CA368982312 | MET | c.2315T>G (p.Val772Gly) c.2264+821T>G (n.2264+821T>G) c.2369T>G (p.Val790Gly) c.155T>G (p.Val52Gly) c.1025T>G (p.Val342Gly) c.2372T>G (p.Val791Gly) n.2495+821T>G | |
7 | g.116759442C>A | CA457217274 | MET | c.2316C>A (p.Val772=) c.2264+822C>A (n.2264+822C>A) c.2370C>A (p.Val790=) c.156C>A (p.Val52=) c.1026C>A (p.Val342=) c.2373C>A (p.Val791=) n.2495+822C>A | dbSNP |
7 | g.116759442C= | CA1737025378 | MET | c.2316C= (p.Val772=) c.2264+822C= (n.2264+822C=) c.2370C= (p.Val790=) c.156C= (p.Val52=) c.1026C= (p.Val342=) c.2373C= (p.Val791=) n.2495+822C= | |
7 | g.116759442C>G | CA457217276 | MET | c.2316C>G (p.Val772=) c.2264+822C>G (n.2264+822C>G) c.2370C>G (p.Val790=) c.156C>G (p.Val52=) c.1026C>G (p.Val342=) c.2373C>G (p.Val791=) n.2495+822C>G | dbSNP |
7 | g.116759442C>T | CA457217280 | MET | c.2316C>T (p.Val772=) c.2264+822C>T (n.2264+822C>T) c.2370C>T (p.Val790=) c.156C>T (p.Val52=) c.1026C>T (p.Val342=) c.2373C>T (p.Val791=) n.2495+822C>T | dbSNP gnomAD v4 |
7 | g.116759443C>A | CA368982317 | MET | c.2317C>A (p.Pro773Thr) c.2264+823C>A (n.2264+823C>A) c.2371C>A (p.Pro791Thr) c.157C>A (p.Pro53Thr) c.1027C>A (p.Pro343Thr) c.2374C>A (p.Pro792Thr) n.2495+823C>A | dbSNP |
7 | g.116759443C>G | CA368982315 | MET | c.2317C>G (p.Pro773Ala) c.2264+823C>G (n.2264+823C>G) c.2371C>G (p.Pro791Ala) c.157C>G (p.Pro53Ala) c.1027C>G (p.Pro343Ala) c.2374C>G (p.Pro792Ala) n.2495+823C>G | dbSNP |
7 | g.116759443C>T | CA368982313 | MET | c.2317C>T (p.Pro773Ser) c.2264+823C>T (n.2264+823C>T) c.2371C>T (p.Pro791Ser) c.157C>T (p.Pro53Ser) c.1027C>T (p.Pro343Ser) c.2374C>T (p.Pro792Ser) n.2495+823C>T | ClinVar dbSNP |
7 | g.116759444C>A | CA368982322 | MET | c.2318C>A (p.Pro773Gln) c.2264+824C>A (n.2264+824C>A) c.2372C>A (p.Pro791Gln) c.158C>A (p.Pro53Gln) c.1028C>A (p.Pro343Gln) c.2375C>A (p.Pro792Gln) n.2495+824C>A | dbSNP |
7 | g.116759444C= | CA1737025392 | MET | c.2318C= (p.Pro773=) c.2264+824C= (n.2264+824C=) c.2372C= (p.Pro791=) c.158C= (p.Pro53=) c.1028C= (p.Pro343=) c.2375C= (p.Pro792=) n.2495+824C= | |
7 | g.116759444C>G | CA368982324 | MET | c.2318C>G (p.Pro773Arg) c.2264+824C>G (n.2264+824C>G) c.2372C>G (p.Pro791Arg) c.158C>G (p.Pro53Arg) c.1028C>G (p.Pro343Arg) c.2375C>G (p.Pro792Arg) n.2495+824C>G | dbSNP |
7 | g.116759444C>T | CA4448450 | MET | c.2318C>T (p.Pro773Leu) c.2264+824C>T (n.2264+824C>T) c.2372C>T (p.Pro791Leu) c.158C>T (p.Pro53Leu) c.1028C>T (p.Pro343Leu) c.2375C>T (p.Pro792Leu) n.2495+824C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759445G>A | CA4448451 | MET | c.2319G>A (p.Pro773=) c.2264+825G>A (n.2264+825G>A) c.2373G>A (p.Pro791=) c.159G>A (p.Pro53=) c.1029G>A (p.Pro343=) c.2376G>A (p.Pro792=) n.2495+825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759445G>C | CA457217283 | MET | c.2319G>C (p.Pro773=) c.2264+825G>C (n.2264+825G>C) c.2373G>C (p.Pro791=) c.159G>C (p.Pro53=) c.1029G>C (p.Pro343=) c.2376G>C (p.Pro792=) n.2495+825G>C | ClinVar dbSNP |
7 | g.116759445G= | CA1737025404 | MET | c.2319G= (p.Pro773=) c.2264+825G= (n.2264+825G=) c.2373G= (p.Pro791=) c.159G= (p.Pro53=) c.1029G= (p.Pro343=) c.2376G= (p.Pro792=) n.2495+825G= | |
7 | g.116759445G>T | CA457217284 | MET | c.2319G>T (p.Pro773=) c.2264+825G>T (n.2264+825G>T) c.2373G>T (p.Pro791=) c.159G>T (p.Pro53=) c.1029G>T (p.Pro343=) c.2376G>T (p.Pro792=) n.2495+825G>T | |
7 | g.116759446A>C | CA457217285 | MET | c.2320A>C (p.Arg774=) c.2264+826A>C (n.2264+826A>C) c.2374A>C (p.Arg792=) c.160A>C (p.Arg54=) c.1030A>C (p.Arg344=) c.2377A>C (p.Arg793=) n.2495+826A>C | ClinVar dbSNP gnomAD v4 |
7 | g.116759446A>G | CA368982339 | MET | c.2320A>G (p.Arg774Gly) c.2264+826A>G (n.2264+826A>G) c.2374A>G (p.Arg792Gly) c.160A>G (p.Arg54Gly) c.1030A>G (p.Arg344Gly) c.2377A>G (p.Arg793Gly) n.2495+826A>G | |
7 | g.116759446A>T | CA368982342 | MET | c.2320A>T (p.Arg774Ter) c.2264+826A>T (n.2264+826A>T) c.2374A>T (p.Arg792Ter) c.160A>T (p.Arg54Ter) c.1030A>T (p.Arg344Ter) c.2377A>T (p.Arg793Ter) n.2495+826A>T | dbSNP |
7 | g.116759447G>A | CA368982344 | MET | c.2321G>A (p.Arg774Lys) c.2264+827G>A (n.2264+827G>A) c.2375G>A (p.Arg792Lys) c.161G>A (p.Arg54Lys) c.1031G>A (p.Arg344Lys) c.2378G>A (p.Arg793Lys) n.2495+827G>A | dbSNP |
7 | g.116759447G>C | CA368982346 | MET | c.2321G>C (p.Arg774Thr) c.2264+827G>C (n.2264+827G>C) c.2375G>C (p.Arg792Thr) c.161G>C (p.Arg54Thr) c.1031G>C (p.Arg344Thr) c.2378G>C (p.Arg793Thr) n.2495+827G>C | dbSNP |
7 | g.116759447G>T | CA368982345 | MET | c.2321G>T (p.Arg774Ile) c.2264+827G>T (n.2264+827G>T) c.2375G>T (p.Arg792Ile) c.161G>T (p.Arg54Ile) c.1031G>T (p.Arg344Ile) c.2378G>T (p.Arg793Ile) n.2495+827G>T | |
7 | g.116759448A>C | CA368982348 | MET | c.2322A>C (p.Arg774Ser) c.2264+828A>C (n.2264+828A>C) c.2376A>C (p.Arg792Ser) c.162A>C (p.Arg54Ser) c.1032A>C (p.Arg344Ser) c.2379A>C (p.Arg793Ser) n.2495+828A>C | |
7 | g.116759448A>G | CA457217292 | MET | c.2322A>G (p.Arg774=) c.2264+828A>G (n.2264+828A>G) c.2376A>G (p.Arg792=) c.162A>G (p.Arg54=) c.1032A>G (p.Arg344=) c.2379A>G (p.Arg793=) n.2495+828A>G | ClinVar dbSNP |
7 | g.116759448A>T | CA368982350 | MET | c.2322A>T (p.Arg774Ser) c.2264+828A>T (n.2264+828A>T) c.2376A>T (p.Arg792Ser) c.162A>T (p.Arg54Ser) c.1032A>T (p.Arg344Ser) c.2379A>T (p.Arg793Ser) n.2495+828A>T | dbSNP |
7 | g.116759449A= | CA1737025407 | MET | c.2323A= (p.Met775=) c.2264+829A= (n.2264+829A=) c.2377A= (p.Met793=) c.163A= (p.Met55=) c.1033A= (p.Met345=) c.2380A= (p.Met794=) n.2495+829A= | |
7 | g.116759449A>C | CA368982353 | MET | c.2323A>C (p.Met775Leu) c.2264+829A>C (n.2264+829A>C) c.2377A>C (p.Met793Leu) c.163A>C (p.Met55Leu) c.1033A>C (p.Met345Leu) c.2380A>C (p.Met794Leu) n.2495+829A>C | |
7 | g.116759449A>G | CA368982356 | MET | c.2323A>G (p.Met775Val) c.2264+829A>G (n.2264+829A>G) c.2377A>G (p.Met793Val) c.163A>G (p.Met55Val) c.1033A>G (p.Met345Val) c.2380A>G (p.Met794Val) n.2495+829A>G | ClinVar dbSNP |
7 | g.116759449A>T | CA368982362 | MET | c.2323A>T (p.Met775Leu) c.2264+829A>T (n.2264+829A>T) c.2377A>T (p.Met793Leu) c.163A>T (p.Met55Leu) c.1033A>T (p.Met345Leu) c.2380A>T (p.Met794Leu) n.2495+829A>T | dbSNP |
7 | g.116759450T>A | CA368982365 | MET | c.2324T>A (p.Met775Lys) c.2264+830T>A (n.2264+830T>A) c.2378T>A (p.Met793Lys) c.164T>A (p.Met55Lys) c.1034T>A (p.Met345Lys) c.2381T>A (p.Met794Lys) n.2495+830T>A | ClinVar gnomAD v4 |
7 | g.116759450T>C | CA368982367 | MET | c.2324T>C (p.Met775Thr) c.2264+830T>C (n.2264+830T>C) c.2378T>C (p.Met793Thr) c.164T>C (p.Met55Thr) c.1034T>C (p.Met345Thr) c.2381T>C (p.Met794Thr) n.2495+830T>C | gnomAD v4 |
7 | g.116759450T>G | CA368982371 | MET | c.2324T>G (p.Met775Arg) c.2264+830T>G (n.2264+830T>G) c.2378T>G (p.Met793Arg) c.164T>G (p.Met55Arg) c.1034T>G (p.Met345Arg) c.2381T>G (p.Met794Arg) n.2495+830T>G | |
7 | g.116759451G>A | CA368982372 | MET | c.2325G>A (p.Met775Ile) c.2264+831G>A (n.2264+831G>A) c.2379G>A (p.Met793Ile) c.165G>A (p.Met55Ile) c.1035G>A (p.Met345Ile) c.2382G>A (p.Met794Ile) n.2495+831G>A | dbSNP |
7 | g.116759451G>C | CA368982373 | MET | c.2325G>C (p.Met775Ile) c.2264+831G>C (n.2264+831G>C) c.2379G>C (p.Met793Ile) c.165G>C (p.Met55Ile) c.1035G>C (p.Met345Ile) c.2382G>C (p.Met794Ile) n.2495+831G>C | dbSNP |
7 | g.116759451G= | CA1737025412 | MET | c.2325G= (p.Met775=) c.2264+831G= (n.2264+831G=) c.2379G= (p.Met793=) c.165G= (p.Met55=) c.1035G= (p.Met345=) c.2382G= (p.Met794=) n.2495+831G= | |
7 | g.116759451G>T | CA4448452 | MET | c.2325G>T (p.Met775Ile) c.2264+831G>T (n.2264+831G>T) c.2379G>T (p.Met793Ile) c.165G>T (p.Met55Ile) c.1035G>T (p.Met345Ile) c.2382G>T (p.Met794Ile) n.2495+831G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759452G>A | CA368982378 | MET | c.2326G>A (p.Val776Ile) c.2264+832G>A (n.2264+832G>A) c.2380G>A (p.Val794Ile) c.166G>A (p.Val56Ile) c.1036G>A (p.Val346Ile) c.2383G>A (p.Val795Ile) n.2495+832G>A | ClinVar dbSNP |
7 | g.116759452G>C | CA4448453 | MET | c.2326G>C (p.Val776Leu) c.2264+832G>C (n.2264+832G>C) c.2380G>C (p.Val794Leu) c.166G>C (p.Val56Leu) c.1036G>C (p.Val346Leu) c.2383G>C (p.Val795Leu) n.2495+832G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759452G= | CA1737025425 | MET | c.2326G= (p.Val776=) c.2264+832G= (n.2264+832G=) c.2380G= (p.Val794=) c.166G= (p.Val56=) c.1036G= (p.Val346=) c.2383G= (p.Val795=) n.2495+832G= | |
7 | g.116759452G>T | CA368982381 | MET | c.2326G>T (p.Val776Phe) c.2264+832G>T (n.2264+832G>T) c.2380G>T (p.Val794Phe) c.166G>T (p.Val56Phe) c.1036G>T (p.Val346Phe) c.2383G>T (p.Val795Phe) n.2495+832G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.116759453T>A | CA368982385 | MET | c.2327T>A (p.Val776Asp) c.2264+833T>A (n.2264+833T>A) c.2381T>A (p.Val794Asp) c.167T>A (p.Val56Asp) c.1037T>A (p.Val346Asp) c.2384T>A (p.Val795Asp) n.2495+833T>A | dbSNP COSMIC |
7 | g.116759453T>C | CA368982390 | MET | c.2327T>C (p.Val776Ala) c.2264+833T>C (n.2264+833T>C) c.2381T>C (p.Val794Ala) c.167T>C (p.Val56Ala) c.1037T>C (p.Val346Ala) c.2384T>C (p.Val795Ala) n.2495+833T>C | dbSNP |
7 | g.116759453T>G | CA368982386 | MET | c.2327T>G (p.Val776Gly) c.2264+833T>G (n.2264+833T>G) c.2381T>G (p.Val794Gly) c.167T>G (p.Val56Gly) c.1037T>G (p.Val346Gly) c.2384T>G (p.Val795Gly) n.2495+833T>G | ClinVar |
7 | g.116759454C>A | CA457217299 | MET | c.2328C>A (p.Val776=) c.2264+834C>A (n.2264+834C>A) c.2382C>A (p.Val794=) c.168C>A (p.Val56=) c.1038C>A (p.Val346=) c.2385C>A (p.Val795=) n.2495+834C>A | dbSNP gnomAD v4 |
7 | g.116759454C= | CA1737025444 | MET | c.2328C= (p.Val776=) c.2264+834C= (n.2264+834C=) c.2382C= (p.Val794=) c.168C= (p.Val56=) c.1038C= (p.Val346=) c.2385C= (p.Val795=) n.2495+834C= | |
7 | g.116759454C>G | CA457217297 | MET | c.2328C>G (p.Val776=) c.2264+834C>G (n.2264+834C>G) c.2382C>G (p.Val794=) c.168C>G (p.Val56=) c.1038C>G (p.Val346=) c.2385C>G (p.Val795=) n.2495+834C>G | dbSNP |
7 | g.116759454C>T | CA457217298 | MET | c.2328C>T (p.Val776=) c.2264+834C>T (n.2264+834C>T) c.2382C>T (p.Val794=) c.168C>T (p.Val56=) c.1038C>T (p.Val346=) c.2385C>T (p.Val795=) n.2495+834C>T | ClinVar dbSNP |
7 | g.116759455A>C | CA368982393 | MET | c.2329A>C (p.Ile777Leu) c.2264+835A>C (n.2264+835A>C) c.2383A>C (p.Ile795Leu) c.169A>C (p.Ile57Leu) c.1039A>C (p.Ile347Leu) c.2386A>C (p.Ile796Leu) n.2495+835A>C | |
7 | g.116759455A>G | CA368982401 | MET | c.2329A>G (p.Ile777Val) c.2264+835A>G (n.2264+835A>G) c.2383A>G (p.Ile795Val) c.169A>G (p.Ile57Val) c.1039A>G (p.Ile347Val) c.2386A>G (p.Ile796Val) n.2495+835A>G | |
7 | g.116759455A>T | CA368982398 | MET | c.2329A>T (p.Ile777Leu) c.2264+835A>T (n.2264+835A>T) c.2383A>T (p.Ile795Leu) c.169A>T (p.Ile57Leu) c.1039A>T (p.Ile347Leu) c.2386A>T (p.Ile796Leu) n.2495+835A>T | dbSNP |
7 | g.116759455_116759456delinsAT | CA1737025450 | MET | c.2329_2330delinsAT (p.Ile777=) c.2264+835_2264+836delinsAT (n.2264+835_2264+836delinsAT) c.2383_2384delinsAT (p.Ile795=) c.169_170delinsAT (p.Ile57=) c.1039_1040delinsAT (p.Ile347=) c.2386_2387delinsAT (p.Ile796=) n.2495+835_2495+836delinsAT | |
7 | g.116759456del | CA1737025454 | MET | c.2330del (p.Ile777LysfsTer22) c.2264+836del (n.2264+836del) c.2384del (p.Ile795LysfsTer22) c.170del (p.Ile57LysfsTer22) c.1040del (p.Ile347LysfsTer22) c.2387del (p.Ile796LysfsTer22) n.2495+836del | dbSNP |
7 | g.116759456T>A | CA368982404 | MET | c.2330T>A (p.Ile777Lys) c.2264+836T>A (n.2264+836T>A) c.2384T>A (p.Ile795Lys) c.170T>A (p.Ile57Lys) c.1040T>A (p.Ile347Lys) c.2387T>A (p.Ile796Lys) n.2495+836T>A | |
7 | g.116759456T>C | CA368982408 | MET | c.2330T>C (p.Ile777Thr) c.2264+836T>C (n.2264+836T>C) c.2384T>C (p.Ile795Thr) c.170T>C (p.Ile57Thr) c.1040T>C (p.Ile347Thr) c.2387T>C (p.Ile796Thr) n.2495+836T>C | |
7 | g.116759456T>G | CA368982407 | MET | c.2330T>G (p.Ile777Arg) c.2264+836T>G (n.2264+836T>G) c.2384T>G (p.Ile795Arg) c.170T>G (p.Ile57Arg) c.1040T>G (p.Ile347Arg) c.2387T>G (p.Ile796Arg) n.2495+836T>G | |
7 | g.116759457A>C | CA457217302 | MET | c.2331A>C (p.Ile777=) c.2264+837A>C (n.2264+837A>C) c.2385A>C (p.Ile795=) c.171A>C (p.Ile57=) c.1041A>C (p.Ile347=) c.2388A>C (p.Ile796=) n.2495+837A>C | |
7 | g.116759457A>G | CA368982409 | MET | c.2331A>G (p.Ile777Met) c.2264+837A>G (n.2264+837A>G) c.2385A>G (p.Ile795Met) c.171A>G (p.Ile57Met) c.1041A>G (p.Ile347Met) c.2388A>G (p.Ile796Met) n.2495+837A>G | dbSNP |
7 | g.116759457A>T | CA457217303 | MET | c.2331A>T (p.Ile777=) c.2264+837A>T (n.2264+837A>T) c.2385A>T (p.Ile795=) c.171A>T (p.Ile57=) c.1041A>T (p.Ile347=) c.2388A>T (p.Ile796=) n.2495+837A>T | |
7 | g.116759458A= | CA1737025458 | MET | c.2332A= (p.Asn778=) c.2264+838A= (n.2264+838A=) c.2386A= (p.Asn796=) c.172A= (p.Asn58=) c.1042A= (p.Asn348=) c.2389A= (p.Asn797=) n.2495+838A= | |
7 | g.116759458A>C | CA4448454 | MET | c.2332A>C (p.Asn778His) c.2264+838A>C (n.2264+838A>C) c.2386A>C (p.Asn796His) c.172A>C (p.Asn58His) c.1042A>C (p.Asn348His) c.2389A>C (p.Asn797His) n.2495+838A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.116759458A>G | CA368982410 | MET | c.2332A>G (p.Asn778Asp) c.2264+838A>G (n.2264+838A>G) c.2386A>G (p.Asn796Asp) c.172A>G (p.Asn58Asp) c.1042A>G (p.Asn348Asp) c.2389A>G (p.Asn797Asp) n.2495+838A>G | |
7 | g.116759458A>T | CA368982411 | MET | c.2332A>T (p.Asn778Tyr) c.2264+838A>T (n.2264+838A>T) c.2386A>T (p.Asn796Tyr) c.172A>T (p.Asn58Tyr) c.1042A>T (p.Asn348Tyr) c.2389A>T (p.Asn797Tyr) n.2495+838A>T | dbSNP |
7 | g.116759459A= | CA1737025462 | MET | c.2333A= (p.Asn778=) c.2264+839A= (n.2264+839A=) c.2387A= (p.Asn796=) c.173A= (p.Asn58=) c.1043A= (p.Asn348=) c.2390A= (p.Asn797=) n.2495+839A= | |
7 | g.116759459A>C | CA368982413 | MET | c.2333A>C (p.Asn778Thr) c.2264+839A>C (n.2264+839A>C) c.2387A>C (p.Asn796Thr) c.173A>C (p.Asn58Thr) c.1043A>C (p.Asn348Thr) c.2390A>C (p.Asn797Thr) n.2495+839A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.116759459A>G | CA368982415 | MET | c.2333A>G (p.Asn778Ser) c.2264+839A>G (n.2264+839A>G) c.2387A>G (p.Asn796Ser) c.173A>G (p.Asn58Ser) c.1043A>G (p.Asn348Ser) c.2390A>G (p.Asn797Ser) n.2495+839A>G | |
7 | g.116759459A>T | CA368982417 | MET | c.2333A>T (p.Asn778Ile) c.2264+839A>T (n.2264+839A>T) c.2387A>T (p.Asn796Ile) c.173A>T (p.Asn58Ile) c.1043A>T (p.Asn348Ile) c.2390A>T (p.Asn797Ile) n.2495+839A>T | dbSNP |
7 | g.116759460T>A | CA368982420 | MET | c.2334T>A (p.Asn778Lys) c.2264+840T>A (n.2264+840T>A) c.2388T>A (p.Asn796Lys) c.174T>A (p.Asn58Lys) c.1044T>A (p.Asn348Lys) c.2391T>A (p.Asn797Lys) n.2495+840T>A | dbSNP |
7 | g.116759460T>C | CA457217306 | MET | c.2334T>C (p.Asn778=) c.2264+840T>C (n.2264+840T>C) c.2388T>C (p.Asn796=) c.174T>C (p.Asn58=) c.1044T>C (p.Asn348=) c.2391T>C (p.Asn797=) n.2495+840T>C | |
7 | g.116759460T>G | CA368982422 | MET | c.2334T>G (p.Asn778Lys) c.2264+840T>G (n.2264+840T>G) c.2388T>G (p.Asn796Lys) c.174T>G (p.Asn58Lys) c.1044T>G (p.Asn348Lys) c.2391T>G (p.Asn797Lys) n.2495+840T>G | ClinVar dbSNP |
7 | g.116759461G>A | CA368982426 | MET | c.2335G>A (p.Val779Met) c.2264+841G>A (n.2264+841G>A) c.2389G>A (p.Val797Met) c.175G>A (p.Val59Met) c.1045G>A (p.Val349Met) c.2392G>A (p.Val798Met) n.2495+841G>A | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.116759461G>C | CA368982427 | MET | c.2335G>C (p.Val779Leu) c.2264+841G>C (n.2264+841G>C) c.2389G>C (p.Val797Leu) c.175G>C (p.Val59Leu) c.1045G>C (p.Val349Leu) c.2392G>C (p.Val798Leu) n.2495+841G>C | dbSNP |
7 | g.116759461G= | CA1737025469 | MET | c.2335G= (p.Val779=) c.2264+841G= (n.2264+841G=) c.2389G= (p.Val797=) c.175G= (p.Val59=) c.1045G= (p.Val349=) c.2392G= (p.Val798=) n.2495+841G= | |
7 | g.116759461G>T | CA368982428 | MET | c.2335G>T (p.Val779Leu) c.2264+841G>T (n.2264+841G>T) c.2389G>T (p.Val797Leu) c.175G>T (p.Val59Leu) c.1045G>T (p.Val349Leu) c.2392G>T (p.Val798Leu) n.2495+841G>T | gnomAD v4 |
7 | g.116759462T>A | CA368982429 | MET | c.2336T>A (p.Val779Glu) c.2264+842T>A (n.2264+842T>A) c.2390T>A (p.Val797Glu) c.176T>A (p.Val59Glu) c.1046T>A (p.Val349Glu) c.2393T>A (p.Val798Glu) n.2495+842T>A | dbSNP gnomAD v4 |
7 | g.116759462T>C | CA368982431 | MET | c.2336T>C (p.Val779Ala) c.2264+842T>C (n.2264+842T>C) c.2390T>C (p.Val797Ala) c.176T>C (p.Val59Ala) c.1046T>C (p.Val349Ala) c.2393T>C (p.Val798Ala) n.2495+842T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.116759462T>G | CA368982430 | MET | c.2336T>G (p.Val779Gly) c.2264+842T>G (n.2264+842T>G) c.2390T>G (p.Val797Gly) c.176T>G (p.Val59Gly) c.1046T>G (p.Val349Gly) c.2393T>G (p.Val798Gly) n.2495+842T>G | dbSNP |
7 | g.116759462T= | CA1737025471 | MET | c.2336T= (p.Val779=) c.2264+842T= (n.2264+842T=) c.2390T= (p.Val797=) c.176T= (p.Val59=) c.1046T= (p.Val349=) c.2393T= (p.Val798=) n.2495+842T= |