UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116781947A= | CA1737012022 | MET | c.*1128-41A= (n.*1128-41A=) c.3577-41A= (n.3577-41A=) c.3523-41A= (n.3523-41A=) c.2233-41A= (n.2233-41A=) c.3580-41A= (n.3580-41A=) n.3654-41A= | |
| 7 | g.116781947A>G | CA2549172016 | MET | c.*1128-41A>G (n.*1128-41A>G) c.3577-41A>G (n.3577-41A>G) c.3523-41A>G (n.3523-41A>G) c.2233-41A>G (n.2233-41A>G) c.3580-41A>G (n.3580-41A>G) n.3654-41A>G | |
| 7 | g.116781947A>T | CA4448740 | MET | c.*1128-41A>T (n.*1128-41A>T) c.3577-41A>T (n.3577-41A>T) c.3523-41A>T (n.3523-41A>T) c.2233-41A>T (n.2233-41A>T) c.3580-41A>T (n.3580-41A>T) n.3654-41A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116781948G>A | CA577217887 | MET | c.*1128-40G>A (n.*1128-40G>A) c.3577-40G>A (n.3577-40G>A) c.3523-40G>A (n.3523-40G>A) c.2233-40G>A (n.2233-40G>A) c.3580-40G>A (n.3580-40G>A) n.3654-40G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116781948G>C | CA651891596 | MET | c.*1128-40G>C (n.*1128-40G>C) c.3577-40G>C (n.3577-40G>C) c.3523-40G>C (n.3523-40G>C) c.2233-40G>C (n.2233-40G>C) c.3580-40G>C (n.3580-40G>C) n.3654-40G>C | dbSNP COSMIC |
| 7 | g.116781948G= | CA1737012024 | MET | c.*1128-40G= (n.*1128-40G=) c.3577-40G= (n.3577-40G=) c.3523-40G= (n.3523-40G=) c.2233-40G= (n.2233-40G=) c.3580-40G= (n.3580-40G=) n.3654-40G= | |
| 7 | g.116781948G>T | CA2715313152 | MET | c.*1128-40G>T (n.*1128-40G>T) c.3577-40G>T (n.3577-40G>T) c.3523-40G>T (n.3523-40G>T) c.2233-40G>T (n.2233-40G>T) c.3580-40G>T (n.3580-40G>T) n.3654-40G>T | dbSNP |
| 7 | g.116781949A>G | CA2578998373 | MET | c.*1128-39A>G (n.*1128-39A>G) c.3577-39A>G (n.3577-39A>G) c.3523-39A>G (n.3523-39A>G) c.2233-39A>G (n.2233-39A>G) c.3580-39A>G (n.3580-39A>G) n.3654-39A>G | gnomAD v4 |
| 7 | g.116781949A>T | CA2684592483 | MET | c.*1128-39A>T (n.*1128-39A>T) c.3577-39A>T (n.3577-39A>T) c.3523-39A>T (n.3523-39A>T) c.2233-39A>T (n.2233-39A>T) c.3580-39A>T (n.3580-39A>T) n.3654-39A>T | dbSNP gnomAD v4 |
| 7 | g.116781950T>C | CA2684592484 | MET | c.*1128-38T>C (n.*1128-38T>C) c.3577-38T>C (n.3577-38T>C) c.3523-38T>C (n.3523-38T>C) c.2233-38T>C (n.2233-38T>C) c.3580-38T>C (n.3580-38T>C) n.3654-38T>C | dbSNP gnomAD v4 |
| 7 | g.116781951G>A | CA577217888 | MET | c.*1128-37G>A (n.*1128-37G>A) c.3577-37G>A (n.3577-37G>A) c.3523-37G>A (n.3523-37G>A) c.2233-37G>A (n.2233-37G>A) c.3580-37G>A (n.3580-37G>A) n.3654-37G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116781951G= | CA1737012027 | MET | c.*1128-37G= (n.*1128-37G=) c.3577-37G= (n.3577-37G=) c.3523-37G= (n.3523-37G=) c.2233-37G= (n.2233-37G=) c.3580-37G= (n.3580-37G=) n.3654-37G= | |
| 7 | g.116781951G>T | CA2684592485 | MET | c.*1128-37G>T (n.*1128-37G>T) c.3577-37G>T (n.3577-37G>T) c.3523-37G>T (n.3523-37G>T) c.2233-37G>T (n.2233-37G>T) c.3580-37G>T (n.3580-37G>T) n.3654-37G>T | gnomAD v4 |
| 7 | g.116781952C>A | CA2684592486 | MET | c.*1128-36C>A (n.*1128-36C>A) c.3577-36C>A (n.3577-36C>A) c.3523-36C>A (n.3523-36C>A) c.2233-36C>A (n.2233-36C>A) c.3580-36C>A (n.3580-36C>A) n.3654-36C>A | gnomAD v4 |
| 7 | g.116781952C>G | CA2715552732 | MET | c.*1128-36C>G (n.*1128-36C>G) c.3577-36C>G (n.3577-36C>G) c.3523-36C>G (n.3523-36C>G) c.2233-36C>G (n.2233-36C>G) c.3580-36C>G (n.3580-36C>G) n.3654-36C>G | dbSNP |
| 7 | g.116781953T>C | CA2578998374 | MET | c.*1128-35T>C (n.*1128-35T>C) c.3577-35T>C (n.3577-35T>C) c.3523-35T>C (n.3523-35T>C) c.2233-35T>C (n.2233-35T>C) c.3580-35T>C (n.3580-35T>C) n.3654-35T>C | gnomAD v4 |
| 7 | g.116781955A= | CA1737012029 | MET | c.*1128-33A= (n.*1128-33A=) c.3577-33A= (n.3577-33A=) c.3523-33A= (n.3523-33A=) c.2233-33A= (n.2233-33A=) c.3580-33A= (n.3580-33A=) n.3654-33A= | |
| 7 | g.116781955A>C | CA2684592487 | MET | c.*1128-33A>C (n.*1128-33A>C) c.3577-33A>C (n.3577-33A>C) c.3523-33A>C (n.3523-33A>C) c.2233-33A>C (n.2233-33A>C) c.3580-33A>C (n.3580-33A>C) n.3654-33A>C | gnomAD v4 |
| 7 | g.116781955A>G | CA832020046 | MET | c.*1128-33A>G (n.*1128-33A>G) c.3577-33A>G (n.3577-33A>G) c.3523-33A>G (n.3523-33A>G) c.2233-33A>G (n.2233-33A>G) c.3580-33A>G (n.3580-33A>G) n.3654-33A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116781955A>T | CA2715314567 | MET | c.*1128-33A>T (n.*1128-33A>T) c.3577-33A>T (n.3577-33A>T) c.3523-33A>T (n.3523-33A>T) c.2233-33A>T (n.2233-33A>T) c.3580-33A>T (n.3580-33A>T) n.3654-33A>T | dbSNP |
| 7 | g.116781956G>A | CA1737012033 | MET | c.*1128-32G>A (n.*1128-32G>A) c.3577-32G>A (n.3577-32G>A) c.3523-32G>A (n.3523-32G>A) c.2233-32G>A (n.2233-32G>A) c.3580-32G>A (n.3580-32G>A) n.3654-32G>A | dbSNP gnomAD v4 |
| 7 | g.116781956G>C | CA2684592488 | MET | c.*1128-32G>C (n.*1128-32G>C) c.3577-32G>C (n.3577-32G>C) c.3523-32G>C (n.3523-32G>C) c.2233-32G>C (n.2233-32G>C) c.3580-32G>C (n.3580-32G>C) n.3654-32G>C | gnomAD v4 |
| 7 | g.116781956G= | CA1737012032 | MET | c.*1128-32G= (n.*1128-32G=) c.3577-32G= (n.3577-32G=) c.3523-32G= (n.3523-32G=) c.2233-32G= (n.2233-32G=) c.3580-32G= (n.3580-32G=) n.3654-32G= | |
| 7 | g.116781956G>T | CA2684592489 | MET | c.*1128-32G>T (n.*1128-32G>T) c.3577-32G>T (n.3577-32G>T) c.3523-32G>T (n.3523-32G>T) c.2233-32G>T (n.2233-32G>T) c.3580-32G>T (n.3580-32G>T) n.3654-32G>T | gnomAD v4 |
| 7 | g.116781958T>G | CA832020051 | MET | c.*1128-30T>G (n.*1128-30T>G) c.3577-30T>G (n.3577-30T>G) c.3523-30T>G (n.3523-30T>G) c.2233-30T>G (n.2233-30T>G) c.3580-30T>G (n.3580-30T>G) n.3654-30T>G | dbSNP |
| 7 | g.116781958T= | CA1737012037 | MET | c.*1128-30T= (n.*1128-30T=) c.3577-30T= (n.3577-30T=) c.3523-30T= (n.3523-30T=) c.2233-30T= (n.2233-30T=) c.3580-30T= (n.3580-30T=) n.3654-30T= | |
| 7 | g.116781960A>G | CA2684592490 | MET | c.*1128-28A>G (n.*1128-28A>G) c.3577-28A>G (n.3577-28A>G) c.3523-28A>G (n.3523-28A>G) c.2233-28A>G (n.2233-28A>G) c.3580-28A>G (n.3580-28A>G) n.3654-28A>G | gnomAD v4 |
| 7 | g.116781960A>T | CA2684592491 | MET | c.*1128-28A>T (n.*1128-28A>T) c.3577-28A>T (n.3577-28A>T) c.3523-28A>T (n.3523-28A>T) c.2233-28A>T (n.2233-28A>T) c.3580-28A>T (n.3580-28A>T) n.3654-28A>T | dbSNP gnomAD v4 |
| 7 | g.116781961T>C | CA164910394 | MET | c.*1128-27T>C (n.*1128-27T>C) c.3577-27T>C (n.3577-27T>C) c.3523-27T>C (n.3523-27T>C) c.2233-27T>C (n.2233-27T>C) c.3580-27T>C (n.3580-27T>C) n.3654-27T>C | dbSNP gnomAD v4 |
| 7 | g.116781961T= | CA1737012042 | MET | c.*1128-27T= (n.*1128-27T=) c.3577-27T= (n.3577-27T=) c.3523-27T= (n.3523-27T=) c.2233-27T= (n.2233-27T=) c.3580-27T= (n.3580-27T=) n.3654-27T= | |
| 7 | g.116781962G>C | CA2578998375 | MET | c.*1128-26G>C (n.*1128-26G>C) c.3577-26G>C (n.3577-26G>C) c.3523-26G>C (n.3523-26G>C) c.2233-26G>C (n.2233-26G>C) c.3580-26G>C (n.3580-26G>C) n.3654-26G>C | dbSNP |
| 7 | g.116781962G>T | CA2684592492 | MET | c.*1128-26G>T (n.*1128-26G>T) c.3577-26G>T (n.3577-26G>T) c.3523-26G>T (n.3523-26G>T) c.2233-26G>T (n.2233-26G>T) c.3580-26G>T (n.3580-26G>T) n.3654-26G>T | gnomAD v4 |
| 7 | g.116781963C>A | CA2684592493 | MET | c.*1128-25C>A (n.*1128-25C>A) c.3577-25C>A (n.3577-25C>A) c.3523-25C>A (n.3523-25C>A) c.2233-25C>A (n.2233-25C>A) c.3580-25C>A (n.3580-25C>A) n.3654-25C>A | dbSNP gnomAD v4 |
| 7 | g.116781963C>G | CA2715552734 | MET | c.*1128-25C>G (n.*1128-25C>G) c.3577-25C>G (n.3577-25C>G) c.3523-25C>G (n.3523-25C>G) c.2233-25C>G (n.2233-25C>G) c.3580-25C>G (n.3580-25C>G) n.3654-25C>G | dbSNP |
| 7 | g.116781963C>T | CA2715552733 | MET | c.*1128-25C>T (n.*1128-25C>T) c.3577-25C>T (n.3577-25C>T) c.3523-25C>T (n.3523-25C>T) c.2233-25C>T (n.2233-25C>T) c.3580-25C>T (n.3580-25C>T) n.3654-25C>T | dbSNP |
| 7 | g.116781964T>C | CA1106256982 | MET | c.*1128-24T>C (n.*1128-24T>C) c.3577-24T>C (n.3577-24T>C) c.3523-24T>C (n.3523-24T>C) c.2233-24T>C (n.2233-24T>C) c.3580-24T>C (n.3580-24T>C) n.3654-24T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116781964T= | CA1737012049 | MET | c.*1128-24T= (n.*1128-24T=) c.3577-24T= (n.3577-24T=) c.3523-24T= (n.3523-24T=) c.2233-24T= (n.2233-24T=) c.3580-24T= (n.3580-24T=) n.3654-24T= | |
| 7 | g.116781967T>A | CA2715296373 | MET | c.*1128-21T>A (n.*1128-21T>A) c.3577-21T>A (n.3577-21T>A) c.3523-21T>A (n.3523-21T>A) c.2233-21T>A (n.2233-21T>A) c.3580-21T>A (n.3580-21T>A) n.3654-21T>A | dbSNP |
| 7 | g.116781967T>C | CA4448741 | MET | c.*1128-21T>C (n.*1128-21T>C) c.3577-21T>C (n.3577-21T>C) c.3523-21T>C (n.3523-21T>C) c.2233-21T>C (n.2233-21T>C) c.3580-21T>C (n.3580-21T>C) n.3654-21T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116781967T= | CA1737012050 | MET | c.*1128-21T= (n.*1128-21T=) c.3577-21T= (n.3577-21T=) c.3523-21T= (n.3523-21T=) c.2233-21T= (n.2233-21T=) c.3580-21T= (n.3580-21T=) n.3654-21T= | |
| 7 | g.116781968C>A | CA2684592494 | MET | c.*1128-20C>A (n.*1128-20C>A) c.3577-20C>A (n.3577-20C>A) c.3523-20C>A (n.3523-20C>A) c.2233-20C>A (n.2233-20C>A) c.3580-20C>A (n.3580-20C>A) n.3654-20C>A | gnomAD v4 |
| 7 | g.116781968C>T | CA2715552735 | MET | c.*1128-20C>T (n.*1128-20C>T) c.3577-20C>T (n.3577-20C>T) c.3523-20C>T (n.3523-20C>T) c.2233-20C>T (n.2233-20C>T) c.3580-20C>T (n.3580-20C>T) n.3654-20C>T | dbSNP |
| 7 | g.116781969T>C | CA2580076289 | MET | c.*1128-19T>C (n.*1128-19T>C) c.3577-19T>C (n.3577-19T>C) c.3523-19T>C (n.3523-19T>C) c.2233-19T>C (n.2233-19T>C) c.3580-19T>C (n.3580-19T>C) n.3654-19T>C | ClinVar dbSNP |
| 7 | g.116781971del | CA2578998376 | MET | c.*1128-17del (n.*1128-17del) c.3577-17del (n.3577-17del) c.3523-17del (n.3523-17del) c.2233-17del (n.2233-17del) c.3580-17del (n.3580-17del) n.3654-17del | gnomAD v4 |
| 7 | g.116781971A= | CA1737012052 | MET | c.*1128-17A= (n.*1128-17A=) c.3577-17A= (n.3577-17A=) c.3523-17A= (n.3523-17A=) c.2233-17A= (n.2233-17A=) c.3580-17A= (n.3580-17A=) n.3654-17A= | |
| 7 | g.116781971A>C | CA2715306863 | MET | c.*1128-17A>C (n.*1128-17A>C) c.3577-17A>C (n.3577-17A>C) c.3523-17A>C (n.3523-17A>C) c.2233-17A>C (n.2233-17A>C) c.3580-17A>C (n.3580-17A>C) n.3654-17A>C | dbSNP |
| 7 | g.116781971A>G | CA164910398 | MET | c.*1128-17A>G (n.*1128-17A>G) c.3577-17A>G (n.3577-17A>G) c.3523-17A>G (n.3523-17A>G) c.2233-17A>G (n.2233-17A>G) c.3580-17A>G (n.3580-17A>G) n.3654-17A>G | dbSNP |
| 7 | g.116781971A>T | CA2715306864 | MET | c.*1128-17A>T (n.*1128-17A>T) c.3577-17A>T (n.3577-17A>T) c.3523-17A>T (n.3523-17A>T) c.2233-17A>T (n.2233-17A>T) c.3580-17A>T (n.3580-17A>T) n.3654-17A>T | dbSNP |
| 7 | g.116781972C>A | CA2578998377 | MET | c.*1128-16C>A (n.*1128-16C>A) c.3577-16C>A (n.3577-16C>A) c.3523-16C>A (n.3523-16C>A) c.2233-16C>A (n.2233-16C>A) c.3580-16C>A (n.3580-16C>A) n.3654-16C>A | dbSNP gnomAD v4 |
| 7 | g.116781976_116781977del | CA2684592495 | MET | c.*1128-12_*1128-11del (n.*1128-12_*1128-11del) c.3577-12_3577-11del (n.3577-12_3577-11del) c.3523-12_3523-11del (n.3523-12_3523-11del) c.2233-12_2233-11del (n.2233-12_2233-11del) c.3580-12_3580-11del (n.3580-12_3580-11del) n.3654-12_3654-11del | ClinVar gnomAD v4 |
| 7 | g.116781974C>A | CA2684592496 | MET | c.*1128-14C>A (n.*1128-14C>A) c.3577-14C>A (n.3577-14C>A) c.3523-14C>A (n.3523-14C>A) c.2233-14C>A (n.2233-14C>A) c.3580-14C>A (n.3580-14C>A) n.3654-14C>A | gnomAD v4 |
| 7 | g.116781974C= | CA1737012071 | MET | c.*1128-14C= (n.*1128-14C=) c.3577-14C= (n.3577-14C=) c.3523-14C= (n.3523-14C=) c.2233-14C= (n.2233-14C=) c.3580-14C= (n.3580-14C=) n.3654-14C= | |
| 7 | g.116781974C>T | CA4448742 | MET | c.*1128-14C>T (n.*1128-14C>T) c.3577-14C>T (n.3577-14C>T) c.3523-14C>T (n.3523-14C>T) c.2233-14C>T (n.2233-14C>T) c.3580-14C>T (n.3580-14C>T) n.3654-14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116781975T>A | CA577217890 | MET | c.*1128-13T>A (n.*1128-13T>A) c.3577-13T>A (n.3577-13T>A) c.3523-13T>A (n.3523-13T>A) c.2233-13T>A (n.2233-13T>A) c.3580-13T>A (n.3580-13T>A) n.3654-13T>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116781975T= | CA1737012074 | MET | c.*1128-13T= (n.*1128-13T=) c.3577-13T= (n.3577-13T=) c.3523-13T= (n.3523-13T=) c.2233-13T= (n.2233-13T=) c.3580-13T= (n.3580-13T=) n.3654-13T= | |
| 7 | g.116781976C>A | CA2580767218 | MET | c.*1128-12C>A (n.*1128-12C>A) c.3577-12C>A (n.3577-12C>A) c.3523-12C>A (n.3523-12C>A) c.2233-12C>A (n.2233-12C>A) c.3580-12C>A (n.3580-12C>A) n.3654-12C>A | dbSNP |
| 7 | g.116781976C= | CA1737012079 | MET | c.*1128-12C= (n.*1128-12C=) c.3577-12C= (n.3577-12C=) c.3523-12C= (n.3523-12C=) c.2233-12C= (n.2233-12C=) c.3580-12C= (n.3580-12C=) n.3654-12C= | |
| 7 | g.116781976C>G | CA4448743 | MET | c.*1128-12C>G (n.*1128-12C>G) c.3577-12C>G (n.3577-12C>G) c.3523-12C>G (n.3523-12C>G) c.2233-12C>G (n.2233-12C>G) c.3580-12C>G (n.3580-12C>G) n.3654-12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116781976C>T | CA2580767219 | MET | c.*1128-12C>T (n.*1128-12C>T) c.3577-12C>T (n.3577-12C>T) c.3523-12C>T (n.3523-12C>T) c.2233-12C>T (n.2233-12C>T) c.3580-12C>T (n.3580-12C>T) n.3654-12C>T | ClinVar dbSNP |
| 7 | g.116781978T>C | CA2573141532 | MET | c.*1128-10T>C (n.*1128-10T>C) c.3577-10T>C (n.3577-10T>C) c.3523-10T>C (n.3523-10T>C) c.2233-10T>C (n.2233-10T>C) c.3580-10T>C (n.3580-10T>C) n.3654-10T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116781980G>A | CA2684592497 | MET | c.*1128-8G>A (n.*1128-8G>A) c.3577-8G>A (n.3577-8G>A) c.3523-8G>A (n.3523-8G>A) c.2233-8G>A (n.2233-8G>A) c.3580-8G>A (n.3580-8G>A) n.3654-8G>A | gnomAD v4 |
| 7 | g.116781980G>C | CA1737012088 | MET | c.*1128-8G>C (n.*1128-8G>C) c.3577-8G>C (n.3577-8G>C) c.3523-8G>C (n.3523-8G>C) c.2233-8G>C (n.2233-8G>C) c.3580-8G>C (n.3580-8G>C) n.3654-8G>C | dbSNP gnomAD v4 |
| 7 | g.116781980G= | CA1737012085 | MET | c.*1128-8G= (n.*1128-8G=) c.3577-8G= (n.3577-8G=) c.3523-8G= (n.3523-8G=) c.2233-8G= (n.2233-8G=) c.3580-8G= (n.3580-8G=) n.3654-8G= | |
| 7 | g.116781980G>T | CA2684592498 | MET | c.*1128-8G>T (n.*1128-8G>T) c.3577-8G>T (n.3577-8G>T) c.3523-8G>T (n.3523-8G>T) c.2233-8G>T (n.2233-8G>T) c.3580-8G>T (n.3580-8G>T) n.3654-8G>T | gnomAD v4 |
| 7 | g.116781981A>T | CA2578998378 | MET | c.*1128-7A>T (n.*1128-7A>T) c.3577-7A>T (n.3577-7A>T) c.3523-7A>T (n.3523-7A>T) c.2233-7A>T (n.2233-7A>T) c.3580-7A>T (n.3580-7A>T) n.3654-7A>T | dbSNP |
| 7 | g.116781982C>A | CA2684592499 | MET | c.*1128-6C>A (n.*1128-6C>A) c.3577-6C>A (n.3577-6C>A) c.3523-6C>A (n.3523-6C>A) c.2233-6C>A (n.2233-6C>A) c.3580-6C>A (n.3580-6C>A) n.3654-6C>A | gnomAD v4 |
| 7 | g.116781982C= | CA1737012100 | MET | c.*1128-6C= (n.*1128-6C=) c.3577-6C= (n.3577-6C=) c.3523-6C= (n.3523-6C=) c.2233-6C= (n.2233-6C=) c.3580-6C= (n.3580-6C=) n.3654-6C= | |
| 7 | g.116781982C>G | CA2715332571 | MET | c.*1128-6C>G (n.*1128-6C>G) c.3577-6C>G (n.3577-6C>G) c.3523-6C>G (n.3523-6C>G) c.2233-6C>G (n.2233-6C>G) c.3580-6C>G (n.3580-6C>G) n.3654-6C>G | dbSNP |
| 7 | g.116781982C>T | CA658796999 | MET | c.*1128-6C>T (n.*1128-6C>T) c.3577-6C>T (n.3577-6C>T) c.3523-6C>T (n.3523-6C>T) c.2233-6C>T (n.2233-6C>T) c.3580-6C>T (n.3580-6C>T) n.3654-6C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116781983T>C | CA1106256988 | MET | c.*1128-5T>C (n.*1128-5T>C) c.3577-5T>C (n.3577-5T>C) c.3523-5T>C (n.3523-5T>C) c.2233-5T>C (n.2233-5T>C) c.3580-5T>C (n.3580-5T>C) n.3654-5T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116781983T= | CA1737012107 | MET | c.*1128-5T= (n.*1128-5T=) c.3577-5T= (n.3577-5T=) c.3523-5T= (n.3523-5T=) c.2233-5T= (n.2233-5T=) c.3580-5T= (n.3580-5T=) n.3654-5T= | |
| 7 | g.116781984G>A | CA2578998379 | MET | c.*1128-4G>A (n.*1128-4G>A) c.3577-4G>A (n.3577-4G>A) c.3523-4G>A (n.3523-4G>A) c.2233-4G>A (n.2233-4G>A) c.3580-4G>A (n.3580-4G>A) n.3654-4G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116781984G>C | CA2715552736 | MET | c.*1128-4G>C (n.*1128-4G>C) c.3577-4G>C (n.3577-4G>C) c.3523-4G>C (n.3523-4G>C) c.2233-4G>C (n.2233-4G>C) c.3580-4G>C (n.3580-4G>C) n.3654-4G>C | dbSNP |
| 7 | g.116781984G>T | CA2715552737 | MET | c.*1128-4G>T (n.*1128-4G>T) c.3577-4G>T (n.3577-4G>T) c.3523-4G>T (n.3523-4G>T) c.2233-4G>T (n.2233-4G>T) c.3580-4G>T (n.3580-4G>T) n.3654-4G>T | dbSNP |
| 7 | g.116781985C>A | CA2684592500 | MET | c.*1128-3C>A (n.*1128-3C>A) c.3577-3C>A (n.3577-3C>A) c.3523-3C>A (n.3523-3C>A) c.2233-3C>A (n.2233-3C>A) c.3580-3C>A (n.3580-3C>A) n.3654-3C>A | dbSNP gnomAD v4 |
| 7 | g.116781985C= | CA1737012113 | MET | c.*1128-3C= (n.*1128-3C=) c.3577-3C= (n.3577-3C=) c.3523-3C= (n.3523-3C=) c.2233-3C= (n.2233-3C=) c.3580-3C= (n.3580-3C=) n.3654-3C= | |
| 7 | g.116781985C>G | CA2715296374 | MET | c.*1128-3C>G (n.*1128-3C>G) c.3577-3C>G (n.3577-3C>G) c.3523-3C>G (n.3523-3C>G) c.2233-3C>G (n.2233-3C>G) c.3580-3C>G (n.3580-3C>G) n.3654-3C>G | dbSNP |
| 7 | g.116781985C>T | CA4448744 | MET | c.*1128-3C>T (n.*1128-3C>T) c.3577-3C>T (n.3577-3C>T) c.3523-3C>T (n.3523-3C>T) c.2233-3C>T (n.2233-3C>T) c.3580-3C>T (n.3580-3C>T) n.3654-3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116781986A>C | CA368990870 | MET | c.*1128-2A>C (n.*1128-2A>C) c.3577-2A>C (n.3577-2A>C) c.3523-2A>C (n.3523-2A>C) c.2233-2A>C (n.2233-2A>C) c.3580-2A>C (n.3580-2A>C) n.3654-2A>C | |
| 7 | g.116781986A>G | CA368990871 | MET | c.*1128-2A>G (n.*1128-2A>G) c.3577-2A>G (n.3577-2A>G) c.3523-2A>G (n.3523-2A>G) c.2233-2A>G (n.2233-2A>G) c.3580-2A>G (n.3580-2A>G) n.3654-2A>G | |
| 7 | g.116781986A>T | CA368990872 | MET | c.*1128-2A>T (n.*1128-2A>T) c.3577-2A>T (n.3577-2A>T) c.3523-2A>T (n.3523-2A>T) c.2233-2A>T (n.2233-2A>T) c.3580-2A>T (n.3580-2A>T) n.3654-2A>T | dbSNP |
| 7 | g.116781987G>A | CA368990873 | MET | c.*1128-1G>A (n.*1128-1G>A) c.3577-1G>A (n.3577-1G>A) c.3523-1G>A (n.3523-1G>A) c.2233-1G>A (n.2233-1G>A) c.3580-1G>A (n.3580-1G>A) n.3654-1G>A | gnomAD v4 |
| 7 | g.116781987G>C | CA368990874 | MET | c.*1128-1G>C (n.*1128-1G>C) c.3577-1G>C (n.3577-1G>C) c.3523-1G>C (n.3523-1G>C) c.2233-1G>C (n.2233-1G>C) c.3580-1G>C (n.3580-1G>C) n.3654-1G>C | dbSNP |
| 7 | g.116781987G>T | CA368990875 | MET | c.*1128-1G>T (n.*1128-1G>T) c.3577-1G>T (n.3577-1G>T) c.3523-1G>T (n.3523-1G>T) c.2233-1G>T (n.2233-1G>T) c.3580-1G>T (n.3580-1G>T) n.3654-1G>T | dbSNP |
| 7 | g.116781988A>C | CA368990876 | MET | c.*1128A>C (n.*1128A>C) c.3577A>C (p.Asn1193His) c.3523A>C (p.Asn1175His) c.2233A>C (p.Asn745His) c.3580A>C (p.Asn1194His) n.3654A>C | ClinVar |
| 7 | g.116781988A>G | CA368990878 | MET | c.*1128A>G (n.*1128A>G) c.3577A>G (p.Asn1193Asp) c.3523A>G (p.Asn1175Asp) c.2233A>G (p.Asn745Asp) c.3580A>G (p.Asn1194Asp) n.3654A>G | |
| 7 | g.116781988A>T | CA368990877 | MET | c.*1128A>T (n.*1128A>T) c.3577A>T (p.Asn1193Tyr) c.3523A>T (p.Asn1175Tyr) c.2233A>T (p.Asn745Tyr) c.3580A>T (p.Asn1194Tyr) n.3654A>T | |
| 7 | g.116781989A= | CA1737012123 | MET | c.*1129A= (n.*1129A=) c.3578A= (p.Asn1193=) c.3524A= (p.Asn1175=) c.2234A= (p.Asn745=) c.3581A= (p.Asn1194=) n.3655A= | |
| 7 | g.116781989A>C | CA368990879 | MET | c.*1129A>C (n.*1129A>C) c.3578A>C (p.Asn1193Thr) c.3524A>C (p.Asn1175Thr) c.2234A>C (p.Asn745Thr) c.3581A>C (p.Asn1194Thr) n.3655A>C | ClinVar dbSNP |
| 7 | g.116781989A>G | CA368990880 | MET | c.*1129A>G (n.*1129A>G) c.3578A>G (p.Asn1193Ser) c.3524A>G (p.Asn1175Ser) c.2234A>G (p.Asn745Ser) c.3581A>G (p.Asn1194Ser) n.3655A>G | ClinVar gnomAD v4 |
| 7 | g.116781989A>T | CA368990881 | MET | c.*1129A>T (n.*1129A>T) c.3578A>T (p.Asn1193Ile) c.3524A>T (p.Asn1175Ile) c.2234A>T (p.Asn745Ile) c.3581A>T (p.Asn1194Ile) n.3655A>T | |
| 7 | g.116781990T>A | CA368990882 | MET | c.*1130T>A (n.*1130T>A) c.3579T>A (p.Asn1193Lys) c.3525T>A (p.Asn1175Lys) c.2235T>A (p.Asn745Lys) c.3582T>A (p.Asn1194Lys) n.3656T>A | |
| 7 | g.116781990T>C | CA457219258 | MET | c.*1130T>C (n.*1130T>C) c.3579T>C (p.Asn1193=) c.3525T>C (p.Asn1175=) c.2235T>C (p.Asn745=) c.3582T>C (p.Asn1194=) n.3656T>C | gnomAD v4 |
| 7 | g.116781990T>G | CA368990883 | MET | c.*1130T>G (n.*1130T>G) c.3579T>G (p.Asn1193Lys) c.3525T>G (p.Asn1175Lys) c.2235T>G (p.Asn745Lys) c.3582T>G (p.Asn1194Lys) n.3656T>G | |
| 7 | g.116781991C>A | CA4448745 | MET | c.*1131C>A (n.*1131C>A) c.3580C>A (p.Pro1194Thr) c.3526C>A (p.Pro1176Thr) c.2236C>A (p.Pro746Thr) c.3583C>A (p.Pro1195Thr) n.3657C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116781991C= | CA1737012129 | MET | c.*1131C= (n.*1131C=) c.3580C= (p.Pro1194=) c.3526C= (p.Pro1176=) c.2236C= (p.Pro746=) c.3583C= (p.Pro1195=) n.3657C= | |
| 7 | g.116781991C>G | CA368990884 | MET | c.*1131C>G (n.*1131C>G) c.3580C>G (p.Pro1194Ala) c.3526C>G (p.Pro1176Ala) c.2236C>G (p.Pro746Ala) c.3583C>G (p.Pro1195Ala) n.3657C>G | |
| 7 | g.116781991C>T | CA368990885 | MET | c.*1131C>T (n.*1131C>T) c.3580C>T (p.Pro1194Ser) c.3526C>T (p.Pro1176Ser) c.2236C>T (p.Pro746Ser) c.3583C>T (p.Pro1195Ser) n.3657C>T | |
| 7 | g.116781992C>A | CA368990886 | MET | c.*1132C>A (n.*1132C>A) c.3581C>A (p.Pro1194Gln) c.3527C>A (p.Pro1176Gln) c.2237C>A (p.Pro746Gln) c.3584C>A (p.Pro1195Gln) n.3658C>A | dbSNP |
| 7 | g.116781992C= | CA1737012131 | MET | c.*1132C= (n.*1132C=) c.3581C= (p.Pro1194=) c.3527C= (p.Pro1176=) c.2237C= (p.Pro746=) c.3584C= (p.Pro1195=) n.3658C= | |
| 7 | g.116781992C>G | CA368990887 | MET | c.*1132C>G (n.*1132C>G) c.3581C>G (p.Pro1194Arg) c.3527C>G (p.Pro1176Arg) c.2237C>G (p.Pro746Arg) c.3584C>G (p.Pro1195Arg) n.3658C>G | |
| 7 | g.116781992C>T | CA368990888 | MET | c.*1132C>T (n.*1132C>T) c.3581C>T (p.Pro1194Leu) c.3527C>T (p.Pro1176Leu) c.2237C>T (p.Pro746Leu) c.3584C>T (p.Pro1195Leu) n.3658C>T | dbSNP |
| 7 | g.116781992_116781993insTG | CA2562219795 | MET | c.*1132_*1133insTG (n.*1132_*1133insTG) c.3581_3582insTG (p.Thr1195GlufsTer3) c.3527_3528insTG (p.Thr1177GlufsTer3) c.2237_2238insTG (p.Thr747GlufsTer3) c.3584_3585insTG (p.Thr1196GlufsTer3) n.3658_3659insTG | |
| 7 | g.116781993A= | CA1737012134 | MET | c.*1133A= (n.*1133A=) c.3582A= (p.Pro1194=) c.3528A= (p.Pro1176=) c.2238A= (p.Pro746=) c.3585A= (p.Pro1195=) n.3659A= | |
| 7 | g.116781993A>C | CA457219259 | MET | c.*1133A>C (n.*1133A>C) c.3582A>C (p.Pro1194=) c.3528A>C (p.Pro1176=) c.2238A>C (p.Pro746=) c.3585A>C (p.Pro1195=) n.3659A>C | |
| 7 | g.116781993A>G | CA457219260 | MET | c.*1133A>G (n.*1133A>G) c.3582A>G (p.Pro1194=) c.3528A>G (p.Pro1176=) c.2238A>G (p.Pro746=) c.3585A>G (p.Pro1195=) n.3659A>G | dbSNP |
| 7 | g.116781993A>T | CA457219261 | MET | c.*1133A>T (n.*1133A>T) c.3582A>T (p.Pro1194=) c.3528A>T (p.Pro1176=) c.2238A>T (p.Pro746=) c.3585A>T (p.Pro1195=) n.3659A>T | dbSNP |
| 7 | g.116781994A>C | CA368990889 | MET | c.*1134A>C (n.*1134A>C) c.3583A>C (p.Thr1195Pro) c.3529A>C (p.Thr1177Pro) c.2239A>C (p.Thr747Pro) c.3586A>C (p.Thr1196Pro) n.3660A>C | |
| 7 | g.116781994A>G | CA368990891 | MET | c.*1134A>G (n.*1134A>G) c.3583A>G (p.Thr1195Ala) c.3529A>G (p.Thr1177Ala) c.2239A>G (p.Thr747Ala) c.3586A>G (p.Thr1196Ala) n.3660A>G | ClinVar dbSNP |
| 7 | g.116781994A>T | CA368990890 | MET | c.*1134A>T (n.*1134A>T) c.3583A>T (p.Thr1195Ser) c.3529A>T (p.Thr1177Ser) c.2239A>T (p.Thr747Ser) c.3586A>T (p.Thr1196Ser) n.3660A>T | dbSNP |
| 7 | g.116781995C>A | CA164910413 | MET | c.*1135C>A (n.*1135C>A) c.3584C>A (p.Thr1195Asn) c.3530C>A (p.Thr1177Asn) c.2240C>A (p.Thr747Asn) c.3587C>A (p.Thr1196Asn) n.3661C>A | dbSNP gnomAD v4 |
| 7 | g.116781995C= | CA1737012138 | MET | c.*1135C= (n.*1135C=) c.3584C= (p.Thr1195=) c.3530C= (p.Thr1177=) c.2240C= (p.Thr747=) c.3587C= (p.Thr1196=) n.3661C= | |
| 7 | g.116781995C>G | CA368990892 | MET | c.*1135C>G (n.*1135C>G) c.3584C>G (p.Thr1195Ser) c.3530C>G (p.Thr1177Ser) c.2240C>G (p.Thr747Ser) c.3587C>G (p.Thr1196Ser) n.3661C>G | dbSNP |
| 7 | g.116781995C>T | CA368990893 | MET | c.*1135C>T (n.*1135C>T) c.3584C>T (p.Thr1195Ile) c.3530C>T (p.Thr1177Ile) c.2240C>T (p.Thr747Ile) c.3587C>T (p.Thr1196Ile) n.3661C>T | dbSNP |
| 7 | g.116781996T>A | CA457219262 | MET | c.*1136T>A (n.*1136T>A) c.3585T>A (p.Thr1195=) c.3531T>A (p.Thr1177=) c.2241T>A (p.Thr747=) c.3588T>A (p.Thr1196=) n.3662T>A | |
| 7 | g.116781996T>C | CA457219263 | MET | c.*1136T>C (n.*1136T>C) c.3585T>C (p.Thr1195=) c.3531T>C (p.Thr1177=) c.2241T>C (p.Thr747=) c.3588T>C (p.Thr1196=) n.3662T>C | |
| 7 | g.116781996T>G | CA457219264 | MET | c.*1136T>G (n.*1136T>G) c.3585T>G (p.Thr1195=) c.3531T>G (p.Thr1177=) c.2241T>G (p.Thr747=) c.3588T>G (p.Thr1196=) n.3662T>G | ClinVar dbSNP |
| 7 | g.116781996T= | CA1737012147 | MET | c.*1136T= (n.*1136T=) c.3585T= (p.Thr1195=) c.3531T= (p.Thr1177=) c.2241T= (p.Thr747=) c.3588T= (p.Thr1196=) n.3662T= | |
| 7 | g.116781998_116782012del | CA2684592501 | MET | c.*1138_*1152del (n.*1138_*1152del) c.3587_3601del (p.Val1196_Ile1200del) c.3533_3547del (p.Val1178_Ile1182del) c.2243_2257del (p.Val748_Ile752del) c.3590_3604del (p.Val1197_Ile1201del) n.3664_3678del | gnomAD v4 |
| 7 | g.116781997G>A | CA368990894 | MET | c.*1137G>A (n.*1137G>A) c.3586G>A (p.Val1196Ile) c.3532G>A (p.Val1178Ile) c.2242G>A (p.Val748Ile) c.3589G>A (p.Val1197Ile) n.3663G>A | ClinVar dbSNP |
| 7 | g.116781997G>C | CA368990895 | MET | c.*1137G>C (n.*1137G>C) c.3586G>C (p.Val1196Leu) c.3532G>C (p.Val1178Leu) c.2242G>C (p.Val748Leu) c.3589G>C (p.Val1197Leu) n.3663G>C | dbSNP |
| 7 | g.116781997G= | CA1737012155 | MET | c.*1137G= (n.*1137G=) c.3586G= (p.Val1196=) c.3532G= (p.Val1178=) c.2242G= (p.Val748=) c.3589G= (p.Val1197=) n.3663G= | |
| 7 | g.116781997G>T | CA368990896 | MET | c.*1137G>T (n.*1137G>T) c.3586G>T (p.Val1196Leu) c.3532G>T (p.Val1178Leu) c.2242G>T (p.Val748Leu) c.3589G>T (p.Val1197Leu) n.3663G>T | |
| 7 | g.116781998T>A | CA368990897 | MET | c.*1138T>A (n.*1138T>A) c.3587T>A (p.Val1196Glu) c.3533T>A (p.Val1178Glu) c.2243T>A (p.Val748Glu) c.3590T>A (p.Val1197Glu) n.3664T>A | |
| 7 | g.116781998T>C | CA368990898 | MET | c.*1138T>C (n.*1138T>C) c.3587T>C (p.Val1196Ala) c.3533T>C (p.Val1178Ala) c.2243T>C (p.Val748Ala) c.3590T>C (p.Val1197Ala) n.3664T>C | |
| 7 | g.116781998T>G | CA368990899 | MET | c.*1138T>G (n.*1138T>G) c.3587T>G (p.Val1196Gly) c.3533T>G (p.Val1178Gly) c.2243T>G (p.Val748Gly) c.3590T>G (p.Val1197Gly) n.3664T>G | |
| 7 | g.116781999A= | CA1737012161 | MET | c.*1139A= (n.*1139A=) c.3588A= (p.Val1196=) c.3534A= (p.Val1178=) c.2244A= (p.Val748=) c.3591A= (p.Val1197=) n.3665A= | |
| 7 | g.116781999A>C | CA457219266 | MET | c.*1139A>C (n.*1139A>C) c.3588A>C (p.Val1196=) c.3534A>C (p.Val1178=) c.2244A>C (p.Val748=) c.3591A>C (p.Val1197=) n.3665A>C | |
| 7 | g.116781999A>G | CA164910416 | MET | c.*1139A>G (n.*1139A>G) c.3588A>G (p.Val1196=) c.3534A>G (p.Val1178=) c.2244A>G (p.Val748=) c.3591A>G (p.Val1197=) n.3665A>G | ClinVar dbSNP |
| 7 | g.116781999A>T | CA457219265 | MET | c.*1139A>T (n.*1139A>T) c.3588A>T (p.Val1196=) c.3534A>T (p.Val1178=) c.2244A>T (p.Val748=) c.3591A>T (p.Val1197=) n.3665A>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116782000A>C | CA368990900 | MET | c.*1140A>C (n.*1140A>C) c.3589A>C (p.Lys1197Gln) c.3535A>C (p.Lys1179Gln) c.2245A>C (p.Lys749Gln) c.3592A>C (p.Lys1198Gln) n.3666A>C | |
| 7 | g.116782000A>G | CA368990901 | MET | c.*1140A>G (n.*1140A>G) c.3589A>G (p.Lys1197Glu) c.3535A>G (p.Lys1179Glu) c.2245A>G (p.Lys749Glu) c.3592A>G (p.Lys1198Glu) n.3666A>G | gnomAD v4 |
| 7 | g.116782000A>T | CA368990902 | MET | c.*1140A>T (n.*1140A>T) c.3589A>T (p.Lys1197Ter) c.3535A>T (p.Lys1179Ter) c.2245A>T (p.Lys749Ter) c.3592A>T (p.Lys1198Ter) n.3666A>T | dbSNP |
| 7 | g.116782001A>C | CA368990905 | MET | c.*1141A>C (n.*1141A>C) c.3590A>C (p.Lys1197Thr) c.3536A>C (p.Lys1179Thr) c.2246A>C (p.Lys749Thr) c.3593A>C (p.Lys1198Thr) n.3667A>C | |
| 7 | g.116782001A>G | CA368990904 | MET | c.*1141A>G (n.*1141A>G) c.3590A>G (p.Lys1197Arg) c.3536A>G (p.Lys1179Arg) c.2246A>G (p.Lys749Arg) c.3593A>G (p.Lys1198Arg) n.3667A>G | |
| 7 | g.116782001A>T | CA368990903 | MET | c.*1141A>T (n.*1141A>T) c.3590A>T (p.Lys1197Ile) c.3536A>T (p.Lys1179Ile) c.2246A>T (p.Lys749Ile) c.3593A>T (p.Lys1198Ile) n.3667A>T | dbSNP |
| 7 | g.116782002A>C | CA368990906 | MET | c.*1142A>C (n.*1142A>C) c.3591A>C (p.Lys1197Asn) c.3537A>C (p.Lys1179Asn) c.2247A>C (p.Lys749Asn) c.3594A>C (p.Lys1198Asn) n.3668A>C | |
| 7 | g.116782002A>G | CA457219267 | MET | c.*1142A>G (n.*1142A>G) c.3591A>G (p.Lys1197=) c.3537A>G (p.Lys1179=) c.2247A>G (p.Lys749=) c.3594A>G (p.Lys1198=) n.3668A>G | |
| 7 | g.116782002A>T | CA368990907 | MET | c.*1142A>T (n.*1142A>T) c.3591A>T (p.Lys1197Asn) c.3537A>T (p.Lys1179Asn) c.2247A>T (p.Lys749Asn) c.3594A>T (p.Lys1198Asn) n.3668A>T | |
| 7 | g.116782003G>A | CA164910417 | MET | c.*1143G>A (n.*1143G>A) c.3592G>A (p.Asp1198Asn) c.3538G>A (p.Asp1180Asn) c.2248G>A (p.Asp750Asn) c.3595G>A (p.Asp1199Asn) n.3669G>A | dbSNP |
| 7 | g.116782003G>C | CA368990908 | MET | c.*1143G>C (n.*1143G>C) c.3592G>C (p.Asp1198His) c.3538G>C (p.Asp1180His) c.2248G>C (p.Asp750His) c.3595G>C (p.Asp1199His) n.3669G>C | dbSNP |
| 7 | g.116782003G= | CA1737012169 | MET | c.*1143G= (n.*1143G=) c.3592G= (p.Asp1198=) c.3538G= (p.Asp1180=) c.2248G= (p.Asp750=) c.3595G= (p.Asp1199=) n.3669G= | |
| 7 | g.116782003G>T | CA368990909 | MET | c.*1143G>T (n.*1143G>T) c.3592G>T (p.Asp1198Tyr) c.3538G>T (p.Asp1180Tyr) c.2248G>T (p.Asp750Tyr) c.3595G>T (p.Asp1199Tyr) n.3669G>T | ClinVar dbSNP COSMIC |
| 7 | g.116782004A= | CA1737012177 | MET | c.*1144A= (n.*1144A=) c.3593A= (p.Asp1198=) c.3539A= (p.Asp1180=) c.2249A= (p.Asp750=) c.3596A= (p.Asp1199=) n.3670A= | |
| 7 | g.116782004A>C | CA368990910 | MET | c.*1144A>C (n.*1144A>C) c.3593A>C (p.Asp1198Ala) c.3539A>C (p.Asp1180Ala) c.2249A>C (p.Asp750Ala) c.3596A>C (p.Asp1199Ala) n.3670A>C | |
| 7 | g.116782004A>G | CA368990911 | MET | c.*1144A>G (n.*1144A>G) c.3593A>G (p.Asp1198Gly) c.3539A>G (p.Asp1180Gly) c.2249A>G (p.Asp750Gly) c.3596A>G (p.Asp1199Gly) n.3670A>G | |
| 7 | g.116782004A>T | CA4448746 | MET | c.*1144A>T (n.*1144A>T) c.3593A>T (p.Asp1198Val) c.3539A>T (p.Asp1180Val) c.2249A>T (p.Asp750Val) c.3596A>T (p.Asp1199Val) n.3670A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116782005T>A | CA368990912 | MET | c.*1145T>A (n.*1145T>A) c.3594T>A (p.Asp1198Glu) c.3540T>A (p.Asp1180Glu) c.2250T>A (p.Asp750Glu) c.3597T>A (p.Asp1199Glu) n.3671T>A | gnomAD v4 |
| 7 | g.116782005T>C | CA457219268 | MET | c.*1145T>C (n.*1145T>C) c.3594T>C (p.Asp1198=) c.3540T>C (p.Asp1180=) c.2250T>C (p.Asp750=) c.3597T>C (p.Asp1199=) n.3671T>C | |
| 7 | g.116782005T>G | CA368990913 | MET | c.*1145T>G (n.*1145T>G) c.3594T>G (p.Asp1198Glu) c.3540T>G (p.Asp1180Glu) c.2250T>G (p.Asp750Glu) c.3597T>G (p.Asp1199Glu) n.3671T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116782005T= | CA1737012188 | MET | c.*1145T= (n.*1145T=) c.3594T= (p.Asp1198=) c.3540T= (p.Asp1180=) c.2250T= (p.Asp750=) c.3597T= (p.Asp1199=) n.3671T= | |
| 7 | g.116782006C>A | CA368990914 | MET | c.*1146C>A (n.*1146C>A) c.3595C>A (p.Leu1199Ile) c.3541C>A (p.Leu1181Ile) c.2251C>A (p.Leu751Ile) c.3598C>A (p.Leu1200Ile) n.3672C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116782006C= | CA1737012199 | MET | c.*1146C= (n.*1146C=) c.3595C= (p.Leu1199=) c.3541C= (p.Leu1181=) c.2251C= (p.Leu751=) c.3598C= (p.Leu1200=) n.3672C= | |
| 7 | g.116782006C>G | CA368990915 | MET | c.*1146C>G (n.*1146C>G) c.3595C>G (p.Leu1199Val) c.3541C>G (p.Leu1181Val) c.2251C>G (p.Leu751Val) c.3598C>G (p.Leu1200Val) n.3672C>G | |
| 7 | g.116782006C>T | CA368990916 | MET | c.*1146C>T (n.*1146C>T) c.3595C>T (p.Leu1199Phe) c.3541C>T (p.Leu1181Phe) c.2251C>T (p.Leu751Phe) c.3598C>T (p.Leu1200Phe) n.3672C>T | dbSNP gnomAD v4 |
| 7 | g.116782007T>A | CA368990918 | MET | c.*1147T>A (n.*1147T>A) c.3596T>A (p.Leu1199His) c.3542T>A (p.Leu1181His) c.2252T>A (p.Leu751His) c.3599T>A (p.Leu1200His) n.3673T>A | |
| 7 | g.116782007T>C | CA368990919 | MET | c.*1147T>C (n.*1147T>C) c.3596T>C (p.Leu1199Pro) c.3542T>C (p.Leu1181Pro) c.2252T>C (p.Leu751Pro) c.3599T>C (p.Leu1200Pro) n.3673T>C | |
| 7 | g.116782007T>G | CA368990917 | MET | c.*1147T>G (n.*1147T>G) c.3596T>G (p.Leu1199Arg) c.3542T>G (p.Leu1181Arg) c.2252T>G (p.Leu751Arg) c.3599T>G (p.Leu1200Arg) n.3673T>G | |
| 7 | g.116782008T>A | CA457219269 | MET | c.*1148T>A (n.*1148T>A) c.3597T>A (p.Leu1199=) c.3543T>A (p.Leu1181=) c.2253T>A (p.Leu751=) c.3600T>A (p.Leu1200=) n.3674T>A | dbSNP |
| 7 | g.116782008T>C | CA457219270 | MET | c.*1148T>C (n.*1148T>C) c.3597T>C (p.Leu1199=) c.3543T>C (p.Leu1181=) c.2253T>C (p.Leu751=) c.3600T>C (p.Leu1200=) n.3674T>C | dbSNP |
| 7 | g.116782008T>G | CA457219271 | MET | c.*1148T>G (n.*1148T>G) c.3597T>G (p.Leu1199=) c.3543T>G (p.Leu1181=) c.2253T>G (p.Leu751=) c.3600T>G (p.Leu1200=) n.3674T>G | |
| 7 | g.116782009A= | CA1737012209 | MET | c.*1149A= (n.*1149A=) c.3598A= (p.Ile1200=) c.3544A= (p.Ile1182=) c.2254A= (p.Ile752=) c.3601A= (p.Ile1201=) n.3675A= | |
| 7 | g.116782009A>C | CA368990920 | MET | c.*1149A>C (n.*1149A>C) c.3598A>C (p.Ile1200Leu) c.3544A>C (p.Ile1182Leu) c.2254A>C (p.Ile752Leu) c.3601A>C (p.Ile1201Leu) n.3675A>C | |
| 7 | g.116782009A>G | CA368990921 | MET | c.*1149A>G (n.*1149A>G) c.3598A>G (p.Ile1200Val) c.3544A>G (p.Ile1182Val) c.2254A>G (p.Ile752Val) c.3601A>G (p.Ile1201Val) n.3675A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116782009A>T | CA368990922 | MET | c.*1149A>T (n.*1149A>T) c.3598A>T (p.Ile1200Phe) c.3544A>T (p.Ile1182Phe) c.2254A>T (p.Ile752Phe) c.3601A>T (p.Ile1201Phe) n.3675A>T | dbSNP |
| 7 | g.116782010T>A | CA368990923 | MET | c.*1150T>A (n.*1150T>A) c.3599T>A (p.Ile1200Asn) c.3545T>A (p.Ile1182Asn) c.2255T>A (p.Ile752Asn) c.3602T>A (p.Ile1201Asn) n.3676T>A | |
| 7 | g.116782010T>C | CA368990924 | MET | c.*1150T>C (n.*1150T>C) c.3599T>C (p.Ile1200Thr) c.3545T>C (p.Ile1182Thr) c.2255T>C (p.Ile752Thr) c.3602T>C (p.Ile1201Thr) n.3676T>C | ClinVar dbSNP |
| 7 | g.116782010T>G | CA368990925 | MET | c.*1150T>G (n.*1150T>G) c.3599T>G (p.Ile1200Ser) c.3545T>G (p.Ile1182Ser) c.2255T>G (p.Ile752Ser) c.3602T>G (p.Ile1201Ser) n.3676T>G | |
| 7 | g.116782010T= | CA1737012219 | MET | c.*1150T= (n.*1150T=) c.3599T= (p.Ile1200=) c.3545T= (p.Ile1182=) c.2255T= (p.Ile752=) c.3602T= (p.Ile1201=) n.3676T= | |
| 7 | g.116782011T>A | CA457219272 | MET | c.*1151T>A (n.*1151T>A) c.3600T>A (p.Ile1200=) c.3546T>A (p.Ile1182=) c.2256T>A (p.Ile752=) c.3603T>A (p.Ile1201=) n.3677T>A | dbSNP |
| 7 | g.116782011T>C | CA457219273 | MET | c.*1151T>C (n.*1151T>C) c.3600T>C (p.Ile1200=) c.3546T>C (p.Ile1182=) c.2256T>C (p.Ile752=) c.3603T>C (p.Ile1201=) n.3677T>C | |
| 7 | g.116782011T>G | CA368990927 | MET | c.*1151T>G (n.*1151T>G) c.3600T>G (p.Ile1200Met) c.3546T>G (p.Ile1182Met) c.2256T>G (p.Ile752Met) c.3603T>G (p.Ile1201Met) n.3677T>G | |
| 7 | g.116782012G>A | CA368990929 | MET | c.*1152G>A (n.*1152G>A) c.3601G>A (p.Gly1201Ser) c.3547G>A (p.Gly1183Ser) c.2257G>A (p.Gly753Ser) c.3604G>A (p.Gly1202Ser) n.3678G>A | ClinVar |
| 7 | g.116782012G>C | CA368990931 | MET | c.*1152G>C (n.*1152G>C) c.3601G>C (p.Gly1201Arg) c.3547G>C (p.Gly1183Arg) c.2257G>C (p.Gly753Arg) c.3604G>C (p.Gly1202Arg) n.3678G>C | |
| 7 | g.116782012G>T | CA368990932 | MET | c.*1152G>T (n.*1152G>T) c.3601G>T (p.Gly1201Cys) c.3547G>T (p.Gly1183Cys) c.2257G>T (p.Gly753Cys) c.3604G>T (p.Gly1202Cys) n.3678G>T | dbSNP |
| 7 | g.116782013G>A | CA368990934 | MET | c.*1153G>A (n.*1153G>A) c.3602G>A (p.Gly1201Asp) c.3548G>A (p.Gly1183Asp) c.2258G>A (p.Gly753Asp) c.3605G>A (p.Gly1202Asp) n.3679G>A | ClinVar dbSNP COSMIC |
| 7 | g.116782013G>C | CA368990935 | MET | c.*1153G>C (n.*1153G>C) c.3602G>C (p.Gly1201Ala) c.3548G>C (p.Gly1183Ala) c.2258G>C (p.Gly753Ala) c.3605G>C (p.Gly1202Ala) n.3679G>C | dbSNP |
| 7 | g.116782013G>T | CA368990937 | MET | c.*1153G>T (n.*1153G>T) c.3602G>T (p.Gly1201Val) c.3548G>T (p.Gly1183Val) c.2258G>T (p.Gly753Val) c.3605G>T (p.Gly1202Val) n.3679G>T | dbSNP |
| 7 | g.116782014C>A | CA457219274 | MET | c.*1154C>A (n.*1154C>A) c.3603C>A (p.Gly1201=) c.3549C>A (p.Gly1183=) c.2259C>A (p.Gly753=) c.3606C>A (p.Gly1202=) n.3680C>A | |
| 7 | g.116782014C= | CA1737012229 | MET | c.*1154C= (n.*1154C=) c.3603C= (p.Gly1201=) c.3549C= (p.Gly1183=) c.2259C= (p.Gly753=) c.3606C= (p.Gly1202=) n.3680C= | |
| 7 | g.116782014C>G | CA457219275 | MET | c.*1154C>G (n.*1154C>G) c.3603C>G (p.Gly1201=) c.3549C>G (p.Gly1183=) c.2259C>G (p.Gly753=) c.3606C>G (p.Gly1202=) n.3680C>G | |
| 7 | g.116782014C>T | CA339193 | MET | c.*1154C>T (n.*1154C>T) c.3603C>T (p.Gly1201=) c.3549C>T (p.Gly1183=) c.2259C>T (p.Gly753=) c.3606C>T (p.Gly1202=) n.3680C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116782015T>A | CA368990939 | MET | c.*1155T>A (n.*1155T>A) c.3604T>A (p.Phe1202Ile) c.3550T>A (p.Phe1184Ile) c.2260T>A (p.Phe754Ile) c.3607T>A (p.Phe1203Ile) n.3681T>A | |
| 7 | g.116782015T>C | CA368990941 | MET | c.*1155T>C (n.*1155T>C) c.3604T>C (p.Phe1202Leu) c.3550T>C (p.Phe1184Leu) c.2260T>C (p.Phe754Leu) c.3607T>C (p.Phe1203Leu) n.3681T>C | |
| 7 | g.116782015T>G | CA368990943 | MET | c.*1155T>G (n.*1155T>G) c.3604T>G (p.Phe1202Val) c.3550T>G (p.Phe1184Val) c.2260T>G (p.Phe754Val) c.3607T>G (p.Phe1203Val) n.3681T>G | |
| 7 | g.116782016T>A | CA368990945 | MET | c.*1156T>A (n.*1156T>A) c.3605T>A (p.Phe1202Tyr) c.3551T>A (p.Phe1184Tyr) c.2261T>A (p.Phe754Tyr) c.3608T>A (p.Phe1203Tyr) n.3682T>A | dbSNP |
| 7 | g.116782016T>C | CA368990947 | MET | c.*1156T>C (n.*1156T>C) c.3605T>C (p.Phe1202Ser) c.3551T>C (p.Phe1184Ser) c.2261T>C (p.Phe754Ser) c.3608T>C (p.Phe1203Ser) n.3682T>C | |
| 7 | g.116782016T>G | CA368990948 | MET | c.*1156T>G (n.*1156T>G) c.3605T>G (p.Phe1202Cys) c.3551T>G (p.Phe1184Cys) c.2261T>G (p.Phe754Cys) c.3608T>G (p.Phe1203Cys) n.3682T>G | |
| 7 | g.116782017T>A | CA368990950 | MET | c.*1157T>A (n.*1157T>A) c.3606T>A (p.Phe1202Leu) c.3552T>A (p.Phe1184Leu) c.2262T>A (p.Phe754Leu) c.3609T>A (p.Phe1203Leu) n.3683T>A | |
| 7 | g.116782017T>C | CA4448747 | MET | c.*1157T>C (n.*1157T>C) c.3606T>C (p.Phe1202=) c.3552T>C (p.Phe1184=) c.2262T>C (p.Phe754=) c.3609T>C (p.Phe1203=) n.3683T>C | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.116782017T>G | CA368990951 | MET | c.*1157T>G (n.*1157T>G) c.3606T>G (p.Phe1202Leu) c.3552T>G (p.Phe1184Leu) c.2262T>G (p.Phe754Leu) c.3609T>G (p.Phe1203Leu) n.3683T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116782017T= | CA1737012235 | MET | c.*1157T= (n.*1157T=) c.3606T= (p.Phe1202=) c.3552T= (p.Phe1184=) c.2262T= (p.Phe754=) c.3609T= (p.Phe1203=) n.3683T= | |
| 7 | g.116782018G>A | CA368990953 | MET | c.*1158G>A (n.*1158G>A) c.3607G>A (p.Gly1203Ser) c.3553G>A (p.Gly1185Ser) c.2263G>A (p.Gly755Ser) c.3610G>A (p.Gly1204Ser) n.3684G>A | dbSNP |
| 7 | g.116782018G>C | CA368990955 | MET | c.*1158G>C (n.*1158G>C) c.3607G>C (p.Gly1203Arg) c.3553G>C (p.Gly1185Arg) c.2263G>C (p.Gly755Arg) c.3610G>C (p.Gly1204Arg) n.3684G>C | |
| 7 | g.116782018G>T | CA368990957 | MET | c.*1158G>T (n.*1158G>T) c.3607G>T (p.Gly1203Cys) c.3553G>T (p.Gly1185Cys) c.2263G>T (p.Gly755Cys) c.3610G>T (p.Gly1204Cys) n.3684G>T | dbSNP |
| 7 | g.116782019del | CA2715552747 | MET | c.*1159del (n.*1159del) c.3608del (p.Gly1203ValfsTer4) c.3554del (p.Gly1185ValfsTer4) c.2264del (p.Gly755ValfsTer4) c.3611del (p.Gly1204ValfsTer4) n.3685del | dbSNP |
| 7 | g.116782019G>A | CA368990962 | MET | c.*1159G>A (n.*1159G>A) c.3608G>A (p.Gly1203Asp) c.3554G>A (p.Gly1185Asp) c.2264G>A (p.Gly755Asp) c.3611G>A (p.Gly1204Asp) n.3685G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116782019G>C | CA368990961 | MET | c.*1159G>C (n.*1159G>C) c.3608G>C (p.Gly1203Ala) c.3554G>C (p.Gly1185Ala) c.2264G>C (p.Gly755Ala) c.3611G>C (p.Gly1204Ala) n.3685G>C | dbSNP |
| 7 | g.116782019G= | CA1737012240 | MET | c.*1159G= (n.*1159G=) c.3608G= (p.Gly1203=) c.3554G= (p.Gly1185=) c.2264G= (p.Gly755=) c.3611G= (p.Gly1204=) n.3685G= | |
| 7 | g.116782019G>T | CA368990960 | MET | c.*1159G>T (n.*1159G>T) c.3608G>T (p.Gly1203Val) c.3554G>T (p.Gly1185Val) c.2264G>T (p.Gly755Val) c.3611G>T (p.Gly1204Val) n.3685G>T | dbSNP COSMIC |
| 7 | g.116782020T>A | CA457219278 | MET | c.*1160T>A (n.*1160T>A) c.3609T>A (p.Gly1203=) c.3555T>A (p.Gly1185=) c.2265T>A (p.Gly755=) c.3612T>A (p.Gly1204=) n.3686T>A | dbSNP |
| 7 | g.116782020T>C | CA457219277 | MET | c.*1160T>C (n.*1160T>C) c.3609T>C (p.Gly1203=) c.3555T>C (p.Gly1185=) c.2265T>C (p.Gly755=) c.3612T>C (p.Gly1204=) n.3686T>C | ClinVar dbSNP |
| 7 | g.116782020T>G | CA457219276 | MET | c.*1160T>G (n.*1160T>G) c.3609T>G (p.Gly1203=) c.3555T>G (p.Gly1185=) c.2265T>G (p.Gly755=) c.3612T>G (p.Gly1204=) n.3686T>G | |
| 7 | g.116782021C>A | CA368990965 | MET | c.*1161C>A (n.*1161C>A) c.3610C>A (p.Leu1204Ile) c.3556C>A (p.Leu1186Ile) c.2266C>A (p.Leu756Ile) c.3613C>A (p.Leu1205Ile) n.3687C>A | |
| 7 | g.116782021C>G | CA368990967 | MET | c.*1161C>G (n.*1161C>G) c.3610C>G (p.Leu1204Val) c.3556C>G (p.Leu1186Val) c.2266C>G (p.Leu756Val) c.3613C>G (p.Leu1205Val) n.3687C>G | dbSNP |
| 7 | g.116782021C>T | CA368990966 | MET | c.*1161C>T (n.*1161C>T) c.3610C>T (p.Leu1204Phe) c.3556C>T (p.Leu1186Phe) c.2266C>T (p.Leu756Phe) c.3613C>T (p.Leu1205Phe) n.3687C>T | dbSNP COSMIC |
| 7 | g.116782022T>A | CA368990969 | MET | c.*1162T>A (n.*1162T>A) c.3611T>A (p.Leu1204His) c.3557T>A (p.Leu1186His) c.2267T>A (p.Leu756His) c.3614T>A (p.Leu1205His) n.3688T>A | |
| 7 | g.116782022T>C | CA368990973 | MET | c.*1162T>C (n.*1162T>C) c.3611T>C (p.Leu1204Pro) c.3557T>C (p.Leu1186Pro) c.2267T>C (p.Leu756Pro) c.3614T>C (p.Leu1205Pro) n.3688T>C | dbSNP |
| 7 | g.116782022T>G | CA368990971 | MET | c.*1162T>G (n.*1162T>G) c.3611T>G (p.Leu1204Arg) c.3557T>G (p.Leu1186Arg) c.2267T>G (p.Leu756Arg) c.3614T>G (p.Leu1205Arg) n.3688T>G | COSMIC |
| 7 | g.116782023T>A | CA457219279 | MET | c.*1163T>A (n.*1163T>A) c.3612T>A (p.Leu1204=) c.3558T>A (p.Leu1186=) c.2268T>A (p.Leu756=) c.3615T>A (p.Leu1205=) n.3689T>A | |
| 7 | g.116782023T>C | CA457219280 | MET | c.*1163T>C (n.*1163T>C) c.3612T>C (p.Leu1204=) c.3558T>C (p.Leu1186=) c.2268T>C (p.Leu756=) c.3615T>C (p.Leu1205=) n.3689T>C | |
| 7 | g.116782023T>G | CA457219281 | MET | c.*1163T>G (n.*1163T>G) c.3612T>G (p.Leu1204=) c.3558T>G (p.Leu1186=) c.2268T>G (p.Leu756=) c.3615T>G (p.Leu1205=) n.3689T>G | |
| 7 | g.116782024C>A | CA368990975 | MET | c.*1164C>A (n.*1164C>A) c.3613C>A (p.Gln1205Lys) c.3559C>A (p.Gln1187Lys) c.2269C>A (p.Gln757Lys) c.3616C>A (p.Gln1206Lys) n.3690C>A | |
| 7 | g.116782024C>G | CA368990976 | MET | c.*1164C>G (n.*1164C>G) c.3613C>G (p.Gln1205Glu) c.3559C>G (p.Gln1187Glu) c.2269C>G (p.Gln757Glu) c.3616C>G (p.Gln1206Glu) n.3690C>G | dbSNP |
| 7 | g.116782024C>T | CA368990978 | MET | c.*1164C>T (n.*1164C>T) c.3613C>T (p.Gln1205Ter) c.3559C>T (p.Gln1187Ter) c.2269C>T (p.Gln757Ter) c.3616C>T (p.Gln1206Ter) n.3690C>T | dbSNP |
| 7 | g.116782025A>C | CA368990980 | MET | c.*1165A>C (n.*1165A>C) c.3614A>C (p.Gln1205Pro) c.3560A>C (p.Gln1187Pro) c.2270A>C (p.Gln757Pro) c.3617A>C (p.Gln1206Pro) n.3691A>C | |
| 7 | g.116782025A>G | CA368990982 | MET | c.*1165A>G (n.*1165A>G) c.3614A>G (p.Gln1205Arg) c.3560A>G (p.Gln1187Arg) c.2270A>G (p.Gln757Arg) c.3617A>G (p.Gln1206Arg) n.3691A>G | ClinVar |
| 7 | g.116782025A>T | CA368990983 | MET | c.*1165A>T (n.*1165A>T) c.3614A>T (p.Gln1205Leu) c.3560A>T (p.Gln1187Leu) c.2270A>T (p.Gln757Leu) c.3617A>T (p.Gln1206Leu) n.3691A>T | dbSNP |
| 7 | g.116782026A>C | CA368990985 | MET | c.*1166A>C (n.*1166A>C) c.3615A>C (p.Gln1205His) c.3561A>C (p.Gln1187His) c.2271A>C (p.Gln757His) c.3618A>C (p.Gln1206His) n.3692A>C | |
| 7 | g.116782026A>G | CA457219282 | MET | c.*1166A>G (n.*1166A>G) c.3615A>G (p.Gln1205=) c.3561A>G (p.Gln1187=) c.2271A>G (p.Gln757=) c.3618A>G (p.Gln1206=) n.3692A>G | gnomAD v4 |
| 7 | g.116782026A>T | CA368990987 | MET | c.*1166A>T (n.*1166A>T) c.3615A>T (p.Gln1205His) c.3561A>T (p.Gln1187His) c.2271A>T (p.Gln757His) c.3618A>T (p.Gln1206His) n.3692A>T | ClinVar dbSNP |
| 7 | g.116782027G>A | CA4448748 | MET | c.*1167G>A (n.*1167G>A) c.3616G>A (p.Val1206Ile) c.3562G>A (p.Val1188Ile) c.2272G>A (p.Val758Ile) c.3619G>A (p.Val1207Ile) n.3693G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.116782027G>C | CA368990990 | MET | c.*1167G>C (n.*1167G>C) c.3616G>C (p.Val1206Leu) c.3562G>C (p.Val1188Leu) c.2272G>C (p.Val758Leu) c.3619G>C (p.Val1207Leu) n.3693G>C | dbSNP COSMIC |
| 7 | g.116782027G= | CA1737012249 | MET | c.*1167G= (n.*1167G=) c.3616G= (p.Val1206=) c.3562G= (p.Val1188=) c.2272G= (p.Val758=) c.3619G= (p.Val1207=) n.3693G= | |
| 7 | g.116782027G>T | CA256994 | MET | c.*1167G>T (n.*1167G>T) c.3616G>T (p.Val1206Leu) c.3562G>T (p.Val1188Leu) c.2272G>T (p.Val758Leu) c.3619G>T (p.Val1207Leu) n.3693G>T | ClinVar dbSNP COSMIC |
| 7 | g.116782027_116782029delinsGTA | CA1737012259 | MET | c.*1167_*1169delinsGTA (n.*1167_*1169delinsGTA) c.3616_3618delinsGTA (p.Val1206=) c.3562_3564delinsGTA (p.Val1188=) c.2272_2274delinsGTA (p.Val758=) c.3619_3621delinsGTA (p.Val1207=) n.3693_3695delinsGTA | |
| 7 | g.116782028T>A | CA368990997 | MET | c.*1168T>A (n.*1168T>A) c.3617T>A (p.Val1206Glu) c.3563T>A (p.Val1188Glu) c.2273T>A (p.Val758Glu) c.3620T>A (p.Val1207Glu) n.3694T>A | dbSNP |
| 7 | g.116782028T>C | CA368990993 | MET | c.*1168T>C (n.*1168T>C) c.3617T>C (p.Val1206Ala) c.3563T>C (p.Val1188Ala) c.2273T>C (p.Val758Ala) c.3620T>C (p.Val1207Ala) n.3694T>C | dbSNP |
| 7 | g.116782028T>G | CA368990995 | MET | c.*1168T>G (n.*1168T>G) c.3617T>G (p.Val1206Gly) c.3563T>G (p.Val1188Gly) c.2273T>G (p.Val758Gly) c.3620T>G (p.Val1207Gly) n.3694T>G | dbSNP |
| 7 | g.116782028_116782029del | CA891843309 | MET | c.*1168_*1169del (n.*1168_*1169del) c.3617_3618del (p.Val1206GlyfsTer26) c.3563_3564del (p.Val1188GlyfsTer26) c.2273_2274del (p.Val758GlyfsTer26) c.3620_3621del (p.Val1207GlyfsTer26) n.3694_3695del | ClinVar dbSNP |
| 7 | g.116782029A>C | CA457219283 | MET | c.*1169A>C (n.*1169A>C) c.3618A>C (p.Val1206=) c.3564A>C (p.Val1188=) c.2274A>C (p.Val758=) c.3621A>C (p.Val1207=) n.3695A>C | gnomAD v4 |
| 7 | g.116782029A>G | CA457219284 | MET | c.*1169A>G (n.*1169A>G) c.3618A>G (p.Val1206=) c.3564A>G (p.Val1188=) c.2274A>G (p.Val758=) c.3621A>G (p.Val1207=) n.3695A>G | |
| 7 | g.116782029A>T | CA457219285 | MET | c.*1169A>T (n.*1169A>T) c.3618A>T (p.Val1206=) c.3564A>T (p.Val1188=) c.2274A>T (p.Val758=) c.3621A>T (p.Val1207=) n.3695A>T | dbSNP |
| 7 | g.116782029_116782030delinsAG | CA1737012275 | MET | c.*1169_*1170delinsAG (n.*1169_*1170delinsAG) c.3618_3619delinsAG (p.Val1206=) c.3564_3565delinsAG (p.Val1188=) c.2274_2275delinsAG (p.Val758=) c.3621_3622delinsAG (p.Val1207=) n.3695_3696delinsAG | |
| 7 | g.116782030del | CA164910433 | MET | c.*1170del (n.*1170del) c.3619del (p.Ala1207ProfsTer4) c.3565del (p.Ala1189ProfsTer4) c.2275del (p.Ala759ProfsTer4) c.3622del (p.Ala1208ProfsTer4) n.3696del | dbSNP |
| 7 | g.116782030G>A | CA368990998 | MET | c.*1170G>A (n.*1170G>A) c.3619G>A (p.Ala1207Thr) c.3565G>A (p.Ala1189Thr) c.2275G>A (p.Ala759Thr) c.3622G>A (p.Ala1208Thr) n.3696G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116782030G>C | CA368991000 | MET | c.*1170G>C (n.*1170G>C) c.3619G>C (p.Ala1207Pro) c.3565G>C (p.Ala1189Pro) c.2275G>C (p.Ala759Pro) c.3622G>C (p.Ala1208Pro) n.3696G>C | |
| 7 | g.116782030G= | CA1737012282 | MET | c.*1170G= (n.*1170G=) c.3619G= (p.Ala1207=) c.3565G= (p.Ala1189=) c.2275G= (p.Ala759=) c.3622G= (p.Ala1208=) n.3696G= | |
| 7 | g.116782030G>T | CA368991002 | MET | c.*1170G>T (n.*1170G>T) c.3619G>T (p.Ala1207Ser) c.3565G>T (p.Ala1189Ser) c.2275G>T (p.Ala759Ser) c.3622G>T (p.Ala1208Ser) n.3696G>T | gnomAD v4 |
| 7 | g.116782031C>A | CA368991004 | MET | c.*1171C>A (n.*1171C>A) c.3620C>A (p.Ala1207Asp) c.3566C>A (p.Ala1189Asp) c.2276C>A (p.Ala759Asp) c.3623C>A (p.Ala1208Asp) n.3697C>A | dbSNP |
| 7 | g.116782031C>G | CA368991006 | MET | c.*1171C>G (n.*1171C>G) c.3620C>G (p.Ala1207Gly) c.3566C>G (p.Ala1189Gly) c.2276C>G (p.Ala759Gly) c.3623C>G (p.Ala1208Gly) n.3697C>G | dbSNP |
| 7 | g.116782031C>T | CA368991007 | MET | c.*1171C>T (n.*1171C>T) c.3620C>T (p.Ala1207Val) c.3566C>T (p.Ala1189Val) c.2276C>T (p.Ala759Val) c.3623C>T (p.Ala1208Val) n.3697C>T | dbSNP |
| 7 | g.116782032C>A | CA457219286 | MET | c.*1172C>A (n.*1172C>A) c.3621C>A (p.Ala1207=) c.3567C>A (p.Ala1189=) c.2277C>A (p.Ala759=) c.3624C>A (p.Ala1208=) n.3698C>A | ClinVar gnomAD v4 |
| 7 | g.116782032C= | CA1737012287 | MET | c.*1172C= (n.*1172C=) c.3621C= (p.Ala1207=) c.3567C= (p.Ala1189=) c.2277C= (p.Ala759=) c.3624C= (p.Ala1208=) n.3698C= | |
| 7 | g.116782032C>G | CA457219287 | MET | c.*1172C>G (n.*1172C>G) c.3621C>G (p.Ala1207=) c.3567C>G (p.Ala1189=) c.2277C>G (p.Ala759=) c.3624C>G (p.Ala1208=) n.3698C>G | |
| 7 | g.116782032C>T | CA164910449 | MET | c.*1172C>T (n.*1172C>T) c.3621C>T (p.Ala1207=) c.3567C>T (p.Ala1189=) c.2277C>T (p.Ala759=) c.3624C>T (p.Ala1208=) n.3698C>T | dbSNP gnomAD v4 |
| 7 | g.116782033A>C | CA368991010 | MET | c.*1173A>C (n.*1173A>C) c.3622A>C (p.Lys1208Gln) c.3568A>C (p.Lys1190Gln) c.2278A>C (p.Lys760Gln) c.3625A>C (p.Lys1209Gln) n.3699A>C | |
| 7 | g.116782033A>G | CA368991011 | MET | c.*1173A>G (n.*1173A>G) c.3622A>G (p.Lys1208Glu) c.3568A>G (p.Lys1190Glu) c.2278A>G (p.Lys760Glu) c.3625A>G (p.Lys1209Glu) n.3699A>G | ClinVar gnomAD v4 |
| 7 | g.116782033A>T | CA368991012 | MET | c.*1173A>T (n.*1173A>T) c.3622A>T (p.Lys1208Ter) c.3568A>T (p.Lys1190Ter) c.2278A>T (p.Lys760Ter) c.3625A>T (p.Lys1209Ter) n.3699A>T | |
| 7 | g.116782034A= | CA1737012291 | MET | c.*1174A= (n.*1174A=) c.3623A= (p.Lys1208=) c.3569A= (p.Lys1190=) c.2279A= (p.Lys760=) c.3626A= (p.Lys1209=) n.3700A= | |
| 7 | g.116782034A>C | CA368991016 | MET | c.*1174A>C (n.*1174A>C) c.3623A>C (p.Lys1208Thr) c.3569A>C (p.Lys1190Thr) c.2279A>C (p.Lys760Thr) c.3626A>C (p.Lys1209Thr) n.3700A>C | |
| 7 | g.116782034A>G | CA368991018 | MET | c.*1174A>G (n.*1174A>G) c.3623A>G (p.Lys1208Arg) c.3569A>G (p.Lys1190Arg) c.2279A>G (p.Lys760Arg) c.3626A>G (p.Lys1209Arg) n.3700A>G | dbSNP |
| 7 | g.116782034A>T | CA368991015 | MET | c.*1174A>T (n.*1174A>T) c.3623A>T (p.Lys1208Ile) c.3569A>T (p.Lys1190Ile) c.2279A>T (p.Lys760Ile) c.3626A>T (p.Lys1209Ile) n.3700A>T | dbSNP |
| 7 | g.116782035A>C | CA368991020 | MET | c.*1175A>C (n.*1175A>C) c.3624A>C (p.Lys1208Asn) c.3570A>C (p.Lys1190Asn) c.2280A>C (p.Lys760Asn) c.3627A>C (p.Lys1209Asn) n.3701A>C | |
| 7 | g.116782035A>G | CA457219288 | MET | c.*1175A>G (n.*1175A>G) c.3624A>G (p.Lys1208=) c.3570A>G (p.Lys1190=) c.2280A>G (p.Lys760=) c.3627A>G (p.Lys1209=) n.3701A>G | dbSNP |
| 7 | g.116782035A>T | CA368991022 | MET | c.*1175A>T (n.*1175A>T) c.3624A>T (p.Lys1208Asn) c.3570A>T (p.Lys1190Asn) c.2280A>T (p.Lys760Asn) c.3627A>T (p.Lys1209Asn) n.3701A>T | dbSNP |
| 7 | g.116782036G>A | CA368991023 | MET | c.*1176G>A (n.*1176G>A) c.3625G>A (p.Gly1209Ser) c.3571G>A (p.Gly1191Ser) c.2281G>A (p.Gly761Ser) c.3628G>A (p.Gly1210Ser) n.3702G>A | gnomAD v4 |
| 7 | g.116782036G>C | CA368991025 | MET | c.*1176G>C (n.*1176G>C) c.3625G>C (p.Gly1209Arg) c.3571G>C (p.Gly1191Arg) c.2281G>C (p.Gly761Arg) c.3628G>C (p.Gly1210Arg) n.3702G>C | dbSNP |
| 7 | g.116782036G>T | CA368991027 | MET | c.*1176G>T (n.*1176G>T) c.3625G>T (p.Gly1209Cys) c.3571G>T (p.Gly1191Cys) c.2281G>T (p.Gly761Cys) c.3628G>T (p.Gly1210Cys) n.3702G>T | dbSNP |
| 7 | g.116782037G>A | CA368991032 | MET | c.*1177G>A (n.*1177G>A) c.3626G>A (p.Gly1209Asp) c.3572G>A (p.Gly1191Asp) c.2282G>A (p.Gly761Asp) c.3629G>A (p.Gly1210Asp) n.3703G>A | dbSNP |
| 7 | g.116782037G>C | CA368991031 | MET | c.*1177G>C (n.*1177G>C) c.3626G>C (p.Gly1209Ala) c.3572G>C (p.Gly1191Ala) c.2282G>C (p.Gly761Ala) c.3629G>C (p.Gly1210Ala) n.3703G>C | dbSNP |
| 7 | g.116782037G= | CA1737012305 | MET | c.*1177G= (n.*1177G=) c.3626G= (p.Gly1209=) c.3572G= (p.Gly1191=) c.2282G= (p.Gly761=) c.3629G= (p.Gly1210=) n.3703G= | |
| 7 | g.116782037G>T | CA368991029 | MET | c.*1177G>T (n.*1177G>T) c.3626G>T (p.Gly1209Val) c.3572G>T (p.Gly1191Val) c.2282G>T (p.Gly761Val) c.3629G>T (p.Gly1210Val) n.3703G>T | dbSNP |
| 7 | g.116782038C>A | CA457219289 | MET | c.*1178C>A (n.*1178C>A) c.3627C>A (p.Gly1209=) c.3573C>A (p.Gly1191=) c.2283C>A (p.Gly761=) c.3630C>A (p.Gly1210=) n.3704C>A | dbSNP |
| 7 | g.116782038C>G | CA457219290 | MET | c.*1178C>G (n.*1178C>G) c.3627C>G (p.Gly1209=) c.3573C>G (p.Gly1191=) c.2283C>G (p.Gly761=) c.3630C>G (p.Gly1210=) n.3704C>G | dbSNP |
| 7 | g.116782038C>T | CA457219291 | MET | c.*1178C>T (n.*1178C>T) c.3627C>T (p.Gly1209=) c.3573C>T (p.Gly1191=) c.2283C>T (p.Gly761=) c.3630C>T (p.Gly1210=) n.3704C>T | ClinVar dbSNP |
| 7 | g.116782039A>C | CA368991034 | MET | c.*1179A>C (n.*1179A>C) c.3628A>C (p.Met1210Leu) c.3574A>C (p.Met1192Leu) c.2284A>C (p.Met762Leu) c.3631A>C (p.Met1211Leu) n.3705A>C | |
| 7 | g.116782039A>G | CA368991036 | MET | c.*1179A>G (n.*1179A>G) c.3628A>G (p.Met1210Val) c.3574A>G (p.Met1192Val) c.2284A>G (p.Met762Val) c.3631A>G (p.Met1211Val) n.3705A>G | dbSNP gnomAD v4 |
| 7 | g.116782039A>T | CA368991038 | MET | c.*1179A>T (n.*1179A>T) c.3628A>T (p.Met1210Leu) c.3574A>T (p.Met1192Leu) c.2284A>T (p.Met762Leu) c.3631A>T (p.Met1211Leu) n.3705A>T | dbSNP |
| 7 | g.116782040T>A | CA368991040 | MET | c.*1180T>A (n.*1180T>A) c.3629T>A (p.Met1210Lys) c.3575T>A (p.Met1192Lys) c.2285T>A (p.Met762Lys) c.3632T>A (p.Met1211Lys) n.3706T>A | dbSNP |
| 7 | g.116782040T>C | CA368991041 | MET | c.*1180T>C (n.*1180T>C) c.3629T>C (p.Met1210Thr) c.3575T>C (p.Met1192Thr) c.2285T>C (p.Met762Thr) c.3632T>C (p.Met1211Thr) n.3706T>C | dbSNP |
| 7 | g.116782040T>G | CA368991043 | MET | c.*1180T>G (n.*1180T>G) c.3629T>G (p.Met1210Arg) c.3575T>G (p.Met1192Arg) c.2285T>G (p.Met762Arg) c.3632T>G (p.Met1211Arg) n.3706T>G | |
| 7 | g.116782041G>A | CA368991045 | MET | c.*1181G>A (n.*1181G>A) c.3630G>A (p.Met1210Ile) c.3576G>A (p.Met1192Ile) c.2286G>A (p.Met762Ile) c.3633G>A (p.Met1211Ile) n.3707G>A | dbSNP COSMIC |
| 7 | g.116782041G>C | CA368991048 | MET | c.*1181G>C (n.*1181G>C) c.3630G>C (p.Met1210Ile) c.3576G>C (p.Met1192Ile) c.2286G>C (p.Met762Ile) c.3633G>C (p.Met1211Ile) n.3707G>C | ClinVar dbSNP |
| 7 | g.116782041G>T | CA368991046 | MET | c.*1181G>T (n.*1181G>T) c.3630G>T (p.Met1210Ile) c.3576G>T (p.Met1192Ile) c.2286G>T (p.Met762Ile) c.3633G>T (p.Met1211Ile) n.3707G>T | |
| 7 | g.116782042A>C | CA368991050 | MET | c.*1182A>C (n.*1182A>C) c.3631A>C (p.Lys1211Gln) c.3577A>C (p.Lys1193Gln) c.2287A>C (p.Lys763Gln) c.3634A>C (p.Lys1212Gln) n.3708A>C | |
| 7 | g.116782042A>G | CA368991052 | MET | c.*1182A>G (n.*1182A>G) c.3631A>G (p.Lys1211Glu) c.3577A>G (p.Lys1193Glu) c.2287A>G (p.Lys763Glu) c.3634A>G (p.Lys1212Glu) n.3708A>G | |
| 7 | g.116782042A>T | CA368991054 | MET | c.*1182A>T (n.*1182A>T) c.3631A>T (p.Lys1211Ter) c.3577A>T (p.Lys1193Ter) c.2287A>T (p.Lys763Ter) c.3634A>T (p.Lys1212Ter) n.3708A>T | dbSNP |
| 7 | g.116782044del | CA457219292 | MET | c.*1184del (n.*1184del) c.3633del (p.Lys1211AsnfsTer?) c.3579del (p.Lys1193AsnfsTer?) c.2289del (p.Lys763AsnfsTer?) c.3636del (p.Lys1212AsnfsTer?) n.3710del | COSMIC |
| 7 | g.116782043A>C | CA368991056 | MET | c.*1183A>C (n.*1183A>C) c.3632A>C (p.Lys1211Thr) c.3578A>C (p.Lys1193Thr) c.2288A>C (p.Lys763Thr) c.3635A>C (p.Lys1212Thr) n.3709A>C | |
| 7 | g.116782043A>G | CA368991057 | MET | c.*1183A>G (n.*1183A>G) c.3632A>G (p.Lys1211Arg) c.3578A>G (p.Lys1193Arg) c.2288A>G (p.Lys763Arg) c.3635A>G (p.Lys1212Arg) n.3709A>G | ClinVar |
| 7 | g.116782043A>T | CA368991059 | MET | c.*1183A>T (n.*1183A>T) c.3632A>T (p.Lys1211Ile) c.3578A>T (p.Lys1193Ile) c.2288A>T (p.Lys763Ile) c.3635A>T (p.Lys1212Ile) n.3709A>T | |
| 7 | g.116782044A>C | CA368991061 | MET | c.*1184A>C (n.*1184A>C) c.3633A>C (p.Lys1211Asn) c.3579A>C (p.Lys1193Asn) c.2289A>C (p.Lys763Asn) c.3636A>C (p.Lys1212Asn) n.3710A>C | |
| 7 | g.116782044A>G | CA457219293 | MET | c.*1184A>G (n.*1184A>G) c.3633A>G (p.Lys1211=) c.3579A>G (p.Lys1193=) c.2289A>G (p.Lys763=) c.3636A>G (p.Lys1212=) n.3710A>G | |
| 7 | g.116782044A>T | CA368991063 | MET | c.*1184A>T (n.*1184A>T) c.3633A>T (p.Lys1211Asn) c.3579A>T (p.Lys1193Asn) c.2289A>T (p.Lys763Asn) c.3636A>T (p.Lys1212Asn) n.3710A>T | dbSNP |
| 7 | g.116782045T>A | CA368991065 | MET | c.*1185T>A (n.*1185T>A) c.3634T>A (p.Tyr1212Asn) c.3580T>A (p.Tyr1194Asn) c.2290T>A (p.Tyr764Asn) c.3637T>A (p.Tyr1213Asn) n.3711T>A | dbSNP |
| 7 | g.116782045T>C | CA368991067 | MET | c.*1185T>C (n.*1185T>C) c.3634T>C (p.Tyr1212His) c.3580T>C (p.Tyr1194His) c.2290T>C (p.Tyr764His) c.3637T>C (p.Tyr1213His) n.3711T>C | |
| 7 | g.116782045T>G | CA368991068 | MET | c.*1185T>G (n.*1185T>G) c.3634T>G (p.Tyr1212Asp) c.3580T>G (p.Tyr1194Asp) c.2290T>G (p.Tyr764Asp) c.3637T>G (p.Tyr1213Asp) n.3711T>G | |
| 7 | g.116782046A>C | CA368991074 | MET | c.*1186A>C (n.*1186A>C) c.3635A>C (p.Tyr1212Ser) c.3581A>C (p.Tyr1194Ser) c.2291A>C (p.Tyr764Ser) c.3638A>C (p.Tyr1213Ser) n.3712A>C | |
| 7 | g.116782046A>G | CA368991072 | MET | c.*1186A>G (n.*1186A>G) c.3635A>G (p.Tyr1212Cys) c.3581A>G (p.Tyr1194Cys) c.2291A>G (p.Tyr764Cys) c.3638A>G (p.Tyr1213Cys) n.3712A>G | |
| 7 | g.116782046A>T | CA368991070 | MET | c.*1186A>T (n.*1186A>T) c.3635A>T (p.Tyr1212Phe) c.3581A>T (p.Tyr1194Phe) c.2291A>T (p.Tyr764Phe) c.3638A>T (p.Tyr1213Phe) n.3712A>T | dbSNP |
| 7 | g.116782047T>A | CA368991075 | MET | c.*1187T>A (n.*1187T>A) c.3636T>A (p.Tyr1212Ter) c.3582T>A (p.Tyr1194Ter) c.2292T>A (p.Tyr764Ter) c.3639T>A (p.Tyr1213Ter) n.3713T>A | |
| 7 | g.116782047T>C | CA457219294 | MET | c.*1187T>C (n.*1187T>C) c.3636T>C (p.Tyr1212=) c.3582T>C (p.Tyr1194=) c.2292T>C (p.Tyr764=) c.3639T>C (p.Tyr1213=) n.3713T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116782047T>G | CA368991077 | MET | c.*1187T>G (n.*1187T>G) c.3636T>G (p.Tyr1212Ter) c.3582T>G (p.Tyr1194Ter) c.2292T>G (p.Tyr764Ter) c.3639T>G (p.Tyr1213Ter) n.3713T>G | |
| 7 | g.116782047T= | CA1737012309 | MET | c.*1187T= (n.*1187T=) c.3636T= (p.Tyr1212=) c.3582T= (p.Tyr1194=) c.2292T= (p.Tyr764=) c.3639T= (p.Tyr1213=) n.3713T= |