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.116783276C= | CA1737014105 | MET | c.*1238-28C= (n.*1238-28C=) c.3687-28C= (n.3687-28C=) c.3633-28C= (n.3633-28C=) c.2343-28C= (n.2343-28C=) c.3690-28C= (n.3690-28C=) n.3764-28C= | |
| 7 | g.116783276C>G | CA2578998411 | MET | c.*1238-28C>G (n.*1238-28C>G) c.3687-28C>G (n.3687-28C>G) c.3633-28C>G (n.3633-28C>G) c.2343-28C>G (n.2343-28C>G) c.3690-28C>G (n.3690-28C>G) n.3764-28C>G | dbSNP gnomAD v4 |
| 7 | g.116783276C>T | CA4448759 | MET | c.*1238-28C>T (n.*1238-28C>T) c.3687-28C>T (n.3687-28C>T) c.3633-28C>T (n.3633-28C>T) c.2343-28C>T (n.2343-28C>T) c.3690-28C>T (n.3690-28C>T) n.3764-28C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783276_116783278del | CA2532918033 | MET | c.*1238-28_*1238-26del (n.*1238-28_*1238-26del) c.3687-28_3687-26del (n.3687-28_3687-26del) c.3633-28_3633-26del (n.3633-28_3633-26del) c.2343-28_2343-26del (n.2343-28_2343-26del) c.3690-28_3690-26del (n.3690-28_3690-26del) n.3764-28_3764-26del | |
| 7 | g.116783277G>A | CA4448761 | MET | c.*1238-27G>A (n.*1238-27G>A) c.3687-27G>A (n.3687-27G>A) c.3633-27G>A (n.3633-27G>A) c.2343-27G>A (n.2343-27G>A) c.3690-27G>A (n.3690-27G>A) n.3764-27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783277G>C | CA2715291114 | MET | c.*1238-27G>C (n.*1238-27G>C) c.3687-27G>C (n.3687-27G>C) c.3633-27G>C (n.3633-27G>C) c.2343-27G>C (n.2343-27G>C) c.3690-27G>C (n.3690-27G>C) n.3764-27G>C | dbSNP |
| 7 | g.116783277G= | CA1737014107 | MET | c.*1238-27G= (n.*1238-27G=) c.3687-27G= (n.3687-27G=) c.3633-27G= (n.3633-27G=) c.2343-27G= (n.2343-27G=) c.3690-27G= (n.3690-27G=) n.3764-27G= | |
| 7 | g.116783277G>T | CA4448760 | MET | c.*1238-27G>T (n.*1238-27G>T) c.3687-27G>T (n.3687-27G>T) c.3633-27G>T (n.3633-27G>T) c.2343-27G>T (n.2343-27G>T) c.3690-27G>T (n.3690-27G>T) n.3764-27G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783278G>A | CA2715319875 | MET | c.*1238-26G>A (n.*1238-26G>A) c.3687-26G>A (n.3687-26G>A) c.3633-26G>A (n.3633-26G>A) c.2343-26G>A (n.2343-26G>A) c.3690-26G>A (n.3690-26G>A) n.3764-26G>A | dbSNP |
| 7 | g.116783278G>C | CA2715319877 | MET | c.*1238-26G>C (n.*1238-26G>C) c.3687-26G>C (n.3687-26G>C) c.3633-26G>C (n.3633-26G>C) c.2343-26G>C (n.2343-26G>C) c.3690-26G>C (n.3690-26G>C) n.3764-26G>C | dbSNP |
| 7 | g.116783278G= | CA1737014110 | MET | c.*1238-26G= (n.*1238-26G=) c.3687-26G= (n.3687-26G=) c.3633-26G= (n.3633-26G=) c.2343-26G= (n.2343-26G=) c.3690-26G= (n.3690-26G=) n.3764-26G= | |
| 7 | g.116783278G>T | CA577218043 | MET | c.*1238-26G>T (n.*1238-26G>T) c.3687-26G>T (n.3687-26G>T) c.3633-26G>T (n.3633-26G>T) c.2343-26G>T (n.2343-26G>T) c.3690-26G>T (n.3690-26G>T) n.3764-26G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783279G>A | CA2715322757 | MET | c.*1238-25G>A (n.*1238-25G>A) c.3687-25G>A (n.3687-25G>A) c.3633-25G>A (n.3633-25G>A) c.2343-25G>A (n.2343-25G>A) c.3690-25G>A (n.3690-25G>A) n.3764-25G>A | dbSNP |
| 7 | g.116783279G>C | CA2715322756 | MET | c.*1238-25G>C (n.*1238-25G>C) c.3687-25G>C (n.3687-25G>C) c.3633-25G>C (n.3633-25G>C) c.2343-25G>C (n.2343-25G>C) c.3690-25G>C (n.3690-25G>C) n.3764-25G>C | dbSNP |
| 7 | g.116783279G= | CA1737014113 | MET | c.*1238-25G= (n.*1238-25G=) c.3687-25G= (n.3687-25G=) c.3633-25G= (n.3633-25G=) c.2343-25G= (n.2343-25G=) c.3690-25G= (n.3690-25G=) n.3764-25G= | |
| 7 | g.116783279G>T | CA577218044 | MET | c.*1238-25G>T (n.*1238-25G>T) c.3687-25G>T (n.3687-25G>T) c.3633-25G>T (n.3633-25G>T) c.2343-25G>T (n.2343-25G>T) c.3690-25G>T (n.3690-25G>T) n.3764-25G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783280T>C | CA2684592650 | MET | c.*1238-24T>C (n.*1238-24T>C) c.3687-24T>C (n.3687-24T>C) c.3633-24T>C (n.3633-24T>C) c.2343-24T>C (n.2343-24T>C) c.3690-24T>C (n.3690-24T>C) n.3764-24T>C | gnomAD v4 |
| 7 | g.116783281A= | CA1737014120 | MET | c.*1238-23A= (n.*1238-23A=) c.3687-23A= (n.3687-23A=) c.3633-23A= (n.3633-23A=) c.2343-23A= (n.2343-23A=) c.3690-23A= (n.3690-23A=) n.3764-23A= | |
| 7 | g.116783281A>C | CA832020984 | MET | c.*1238-23A>C (n.*1238-23A>C) c.3687-23A>C (n.3687-23A>C) c.3633-23A>C (n.3633-23A>C) c.2343-23A>C (n.2343-23A>C) c.3690-23A>C (n.3690-23A>C) n.3764-23A>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783281A>G | CA2715326082 | MET | c.*1238-23A>G (n.*1238-23A>G) c.3687-23A>G (n.3687-23A>G) c.3633-23A>G (n.3633-23A>G) c.2343-23A>G (n.2343-23A>G) c.3690-23A>G (n.3690-23A>G) n.3764-23A>G | dbSNP |
| 7 | g.116783282del | CA2684592651 | MET | c.*1238-22del (n.*1238-22del) c.3687-22del (n.3687-22del) c.3633-22del (n.3633-22del) c.2343-22del (n.2343-22del) c.3690-22del (n.3690-22del) n.3764-22del | gnomAD v4 |
| 7 | g.116783282A>G | CA2684592652 | MET | c.*1238-22A>G (n.*1238-22A>G) c.3687-22A>G (n.3687-22A>G) c.3633-22A>G (n.3633-22A>G) c.2343-22A>G (n.2343-22A>G) c.3690-22A>G (n.3690-22A>G) n.3764-22A>G | gnomAD v4 |
| 7 | g.116783282A>T | CA2715553062 | MET | c.*1238-22A>T (n.*1238-22A>T) c.3687-22A>T (n.3687-22A>T) c.3633-22A>T (n.3633-22A>T) c.2343-22A>T (n.2343-22A>T) c.3690-22A>T (n.3690-22A>T) n.3764-22A>T | dbSNP |
| 7 | g.116783283T>A | CA2715553065 | MET | c.*1238-21T>A (n.*1238-21T>A) c.3687-21T>A (n.3687-21T>A) c.3633-21T>A (n.3633-21T>A) c.2343-21T>A (n.2343-21T>A) c.3690-21T>A (n.3690-21T>A) n.3764-21T>A | dbSNP |
| 7 | g.116783283T>C | CA2715553066 | MET | c.*1238-21T>C (n.*1238-21T>C) c.3687-21T>C (n.3687-21T>C) c.3633-21T>C (n.3633-21T>C) c.2343-21T>C (n.2343-21T>C) c.3690-21T>C (n.3690-21T>C) n.3764-21T>C | dbSNP |
| 7 | g.116783284A>T | CA2715553092 | MET | c.*1238-20A>T (n.*1238-20A>T) c.3687-20A>T (n.3687-20A>T) c.3633-20A>T (n.3633-20A>T) c.2343-20A>T (n.2343-20A>T) c.3690-20A>T (n.3690-20A>T) n.3764-20A>T | dbSNP |
| 7 | g.116783285A= | CA1737014123 | MET | c.*1238-19A= (n.*1238-19A=) c.3687-19A= (n.3687-19A=) c.3633-19A= (n.3633-19A=) c.2343-19A= (n.2343-19A=) c.3690-19A= (n.3690-19A=) n.3764-19A= | |
| 7 | g.116783285A>G | CA1106257359 | MET | c.*1238-19A>G (n.*1238-19A>G) c.3687-19A>G (n.3687-19A>G) c.3633-19A>G (n.3633-19A>G) c.2343-19A>G (n.2343-19A>G) c.3690-19A>G (n.3690-19A>G) n.3764-19A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783286T>A | CA2715357959 | MET | c.*1238-18T>A (n.*1238-18T>A) c.3687-18T>A (n.3687-18T>A) c.3633-18T>A (n.3633-18T>A) c.2343-18T>A (n.2343-18T>A) c.3690-18T>A (n.3690-18T>A) n.3764-18T>A | dbSNP |
| 7 | g.116783286T>C | CA1106257362 | MET | c.*1238-18T>C (n.*1238-18T>C) c.3687-18T>C (n.3687-18T>C) c.3633-18T>C (n.3633-18T>C) c.2343-18T>C (n.2343-18T>C) c.3690-18T>C (n.3690-18T>C) n.3764-18T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783286T= | CA1737014124 | MET | c.*1238-18T= (n.*1238-18T=) c.3687-18T= (n.3687-18T=) c.3633-18T= (n.3633-18T=) c.2343-18T= (n.2343-18T=) c.3690-18T= (n.3690-18T=) n.3764-18T= | |
| 7 | g.116783287T>C | CA2715553093 | MET | c.*1238-17T>C (n.*1238-17T>C) c.3687-17T>C (n.3687-17T>C) c.3633-17T>C (n.3633-17T>C) c.2343-17T>C (n.2343-17T>C) c.3690-17T>C (n.3690-17T>C) n.3764-17T>C | dbSNP |
| 7 | g.116783288T>C | CA2715553094 | MET | c.*1238-16T>C (n.*1238-16T>C) c.3687-16T>C (n.3687-16T>C) c.3633-16T>C (n.3633-16T>C) c.2343-16T>C (n.2343-16T>C) c.3690-16T>C (n.3690-16T>C) n.3764-16T>C | dbSNP |
| 7 | g.116783289T>A | CA2715553095 | MET | c.*1238-15T>A (n.*1238-15T>A) c.3687-15T>A (n.3687-15T>A) c.3633-15T>A (n.3633-15T>A) c.2343-15T>A (n.2343-15T>A) c.3690-15T>A (n.3690-15T>A) n.3764-15T>A | dbSNP |
| 7 | g.116783289T>G | CA2684592653 | MET | c.*1238-15T>G (n.*1238-15T>G) c.3687-15T>G (n.3687-15T>G) c.3633-15T>G (n.3633-15T>G) c.2343-15T>G (n.2343-15T>G) c.3690-15T>G (n.3690-15T>G) n.3764-15T>G | gnomAD v4 |
| 7 | g.116783290T>C | CA2715553097 | MET | c.*1238-14T>C (n.*1238-14T>C) c.3687-14T>C (n.3687-14T>C) c.3633-14T>C (n.3633-14T>C) c.2343-14T>C (n.2343-14T>C) c.3690-14T>C (n.3690-14T>C) n.3764-14T>C | dbSNP |
| 7 | g.116783291G>A | CA577218045 | MET | c.*1238-13G>A (n.*1238-13G>A) c.3687-13G>A (n.3687-13G>A) c.3633-13G>A (n.3633-13G>A) c.2343-13G>A (n.2343-13G>A) c.3690-13G>A (n.3690-13G>A) n.3764-13G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783291G>C | CA2715316036 | MET | c.*1238-13G>C (n.*1238-13G>C) c.3687-13G>C (n.3687-13G>C) c.3633-13G>C (n.3633-13G>C) c.2343-13G>C (n.2343-13G>C) c.3690-13G>C (n.3690-13G>C) n.3764-13G>C | dbSNP |
| 7 | g.116783291G= | CA1737014128 | MET | c.*1238-13G= (n.*1238-13G=) c.3687-13G= (n.3687-13G=) c.3633-13G= (n.3633-13G=) c.2343-13G= (n.2343-13G=) c.3690-13G= (n.3690-13G=) n.3764-13G= | |
| 7 | g.116783292T>A | CA2715553100 | MET | c.*1238-12T>A (n.*1238-12T>A) c.3687-12T>A (n.3687-12T>A) c.3633-12T>A (n.3633-12T>A) c.2343-12T>A (n.2343-12T>A) c.3690-12T>A (n.3690-12T>A) n.3764-12T>A | dbSNP |
| 7 | g.116783292T>C | CA2715553098 | MET | c.*1238-12T>C (n.*1238-12T>C) c.3687-12T>C (n.3687-12T>C) c.3633-12T>C (n.3633-12T>C) c.2343-12T>C (n.2343-12T>C) c.3690-12T>C (n.3690-12T>C) n.3764-12T>C | dbSNP |
| 7 | g.116783292T>G | CA2715553099 | MET | c.*1238-12T>G (n.*1238-12T>G) c.3687-12T>G (n.3687-12T>G) c.3633-12T>G (n.3633-12T>G) c.2343-12T>G (n.2343-12T>G) c.3690-12T>G (n.3690-12T>G) n.3764-12T>G | dbSNP |
| 7 | g.116783293C>A | CA2715327553 | MET | c.*1238-11C>A (n.*1238-11C>A) c.3687-11C>A (n.3687-11C>A) c.3633-11C>A (n.3633-11C>A) c.2343-11C>A (n.2343-11C>A) c.3690-11C>A (n.3690-11C>A) n.3764-11C>A | ClinVar dbSNP |
| 7 | g.116783293C= | CA1737014130 | MET | c.*1238-11C= (n.*1238-11C=) c.3687-11C= (n.3687-11C=) c.3633-11C= (n.3633-11C=) c.2343-11C= (n.2343-11C=) c.3690-11C= (n.3690-11C=) n.3764-11C= | |
| 7 | g.116783293C>G | CA2715327552 | MET | c.*1238-11C>G (n.*1238-11C>G) c.3687-11C>G (n.3687-11C>G) c.3633-11C>G (n.3633-11C>G) c.2343-11C>G (n.2343-11C>G) c.3690-11C>G (n.3690-11C>G) n.3764-11C>G | dbSNP |
| 7 | g.116783293C>T | CA577218047 | MET | c.*1238-11C>T (n.*1238-11C>T) c.3687-11C>T (n.3687-11C>T) c.3633-11C>T (n.3633-11C>T) c.2343-11C>T (n.2343-11C>T) c.3690-11C>T (n.3690-11C>T) n.3764-11C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783294C>A | CA2715553101 | MET | c.*1238-10C>A (n.*1238-10C>A) c.3687-10C>A (n.3687-10C>A) c.3633-10C>A (n.3633-10C>A) c.2343-10C>A (n.2343-10C>A) c.3690-10C>A (n.3690-10C>A) n.3764-10C>A | dbSNP |
| 7 | g.116783294C>G | CA2715553102 | MET | c.*1238-10C>G (n.*1238-10C>G) c.3687-10C>G (n.3687-10C>G) c.3633-10C>G (n.3633-10C>G) c.2343-10C>G (n.2343-10C>G) c.3690-10C>G (n.3690-10C>G) n.3764-10C>G | dbSNP |
| 7 | g.116783294C>T | CA2715553103 | MET | c.*1238-10C>T (n.*1238-10C>T) c.3687-10C>T (n.3687-10C>T) c.3633-10C>T (n.3633-10C>T) c.2343-10C>T (n.2343-10C>T) c.3690-10C>T (n.3690-10C>T) n.3764-10C>T | dbSNP |
| 7 | g.116783295T= | CA1737014131 | MET | c.*1238-9T= (n.*1238-9T=) c.3687-9T= (n.3687-9T=) c.3633-9T= (n.3633-9T=) c.2343-9T= (n.2343-9T=) c.3690-9T= (n.3690-9T=) n.3764-9T= | |
| 7 | g.116783295_116783296insC | CA918110679 | MET | c.*1238-9_*1238-8insC (n.*1238-9_*1238-8insC) c.3687-9_3687-8insC (n.3687-9_3687-8insC) c.3633-9_3633-8insC (n.3633-9_3633-8insC) c.2343-9_2343-8insC (n.2343-9_2343-8insC) c.3690-9_3690-8insC (n.3690-9_3690-8insC) n.3764-9_3764-8insC | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783296T>C | CA832020990 | MET | c.*1238-8T>C (n.*1238-8T>C) c.3687-8T>C (n.3687-8T>C) c.3633-8T>C (n.3633-8T>C) c.2343-8T>C (n.2343-8T>C) c.3690-8T>C (n.3690-8T>C) n.3764-8T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783296T= | CA1737014134 | MET | c.*1238-8T= (n.*1238-8T=) c.3687-8T= (n.3687-8T=) c.3633-8T= (n.3633-8T=) c.2343-8T= (n.2343-8T=) c.3690-8T= (n.3690-8T=) n.3764-8T= | |
| 7 | g.116783297T>C | CA339571 | MET | c.*1238-7T>C (n.*1238-7T>C) c.3687-7T>C (n.3687-7T>C) c.3633-7T>C (n.3633-7T>C) c.2343-7T>C (n.2343-7T>C) c.3690-7T>C (n.3690-7T>C) n.3764-7T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783297T>G | CA2684592654 | MET | c.*1238-7T>G (n.*1238-7T>G) c.3687-7T>G (n.3687-7T>G) c.3633-7T>G (n.3633-7T>G) c.2343-7T>G (n.2343-7T>G) c.3690-7T>G (n.3690-7T>G) n.3764-7T>G | gnomAD v4 |
| 7 | g.116783297T= | CA1737014159 | MET | c.*1238-7T= (n.*1238-7T=) c.3687-7T= (n.3687-7T=) c.3633-7T= (n.3633-7T=) c.2343-7T= (n.2343-7T=) c.3690-7T= (n.3690-7T=) n.3764-7T= | |
| 7 | g.116783298C>A | CA2715553106 | MET | c.*1238-6C>A (n.*1238-6C>A) c.3687-6C>A (n.3687-6C>A) c.3633-6C>A (n.3633-6C>A) c.2343-6C>A (n.2343-6C>A) c.3690-6C>A (n.3690-6C>A) n.3764-6C>A | dbSNP |
| 7 | g.116783298C>G | CA2715553104 | MET | c.*1238-6C>G (n.*1238-6C>G) c.3687-6C>G (n.3687-6C>G) c.3633-6C>G (n.3633-6C>G) c.2343-6C>G (n.2343-6C>G) c.3690-6C>G (n.3690-6C>G) n.3764-6C>G | dbSNP |
| 7 | g.116783298C>T | CA2715553105 | MET | c.*1238-6C>T (n.*1238-6C>T) c.3687-6C>T (n.3687-6C>T) c.3633-6C>T (n.3633-6C>T) c.2343-6C>T (n.2343-6C>T) c.3690-6C>T (n.3690-6C>T) n.3764-6C>T | dbSNP |
| 7 | g.116783298dup | CA2715553107 | MET | c.*1238-6dup (n.*1238-6dup) c.3687-6dup (n.3687-6dup) c.3633-6dup (n.3633-6dup) c.2343-6dup (n.2343-6dup) c.3690-6dup (n.3690-6dup) n.3764-6dup | dbSNP |
| 7 | g.116783299T>C | CA1737014170 | MET | c.*1238-5T>C (n.*1238-5T>C) c.3687-5T>C (n.3687-5T>C) c.3633-5T>C (n.3633-5T>C) c.2343-5T>C (n.2343-5T>C) c.3690-5T>C (n.3690-5T>C) n.3764-5T>C | dbSNP |
| 7 | g.116783299T= | CA1737014166 | MET | c.*1238-5T= (n.*1238-5T=) c.3687-5T= (n.3687-5T=) c.3633-5T= (n.3633-5T=) c.2343-5T= (n.2343-5T=) c.3690-5T= (n.3690-5T=) n.3764-5T= | |
| 7 | g.116783300G>A | CA832021001 | MET | c.*1238-4G>A (n.*1238-4G>A) c.3687-4G>A (n.3687-4G>A) c.3633-4G>A (n.3633-4G>A) c.2343-4G>A (n.2343-4G>A) c.3690-4G>A (n.3690-4G>A) n.3764-4G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116783300G>C | CA577218048 | MET | c.*1238-4G>C (n.*1238-4G>C) c.3687-4G>C (n.3687-4G>C) c.3633-4G>C (n.3633-4G>C) c.2343-4G>C (n.2343-4G>C) c.3690-4G>C (n.3690-4G>C) n.3764-4G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783300G= | CA1737014178 | MET | c.*1238-4G= (n.*1238-4G=) c.3687-4G= (n.3687-4G=) c.3633-4G= (n.3633-4G=) c.2343-4G= (n.2343-4G=) c.3690-4G= (n.3690-4G=) n.3764-4G= | |
| 7 | g.116783300G>T | CA2715330882 | MET | c.*1238-4G>T (n.*1238-4G>T) c.3687-4G>T (n.3687-4G>T) c.3633-4G>T (n.3633-4G>T) c.2343-4G>T (n.2343-4G>T) c.3690-4G>T (n.3690-4G>T) n.3764-4G>T | dbSNP |
| 7 | g.116783301T>A | CA2715553108 | MET | c.*1238-3T>A (n.*1238-3T>A) c.3687-3T>A (n.3687-3T>A) c.3633-3T>A (n.3633-3T>A) c.2343-3T>A (n.2343-3T>A) c.3690-3T>A (n.3690-3T>A) n.3764-3T>A | dbSNP |
| 7 | g.116783301T>C | CA2684592655 | MET | c.*1238-3T>C (n.*1238-3T>C) c.3687-3T>C (n.3687-3T>C) c.3633-3T>C (n.3633-3T>C) c.2343-3T>C (n.2343-3T>C) c.3690-3T>C (n.3690-3T>C) n.3764-3T>C | gnomAD v4 |
| 7 | g.116783301T>G | CA2715553109 | MET | c.*1238-3T>G (n.*1238-3T>G) c.3687-3T>G (n.3687-3T>G) c.3633-3T>G (n.3633-3T>G) c.2343-3T>G (n.2343-3T>G) c.3690-3T>G (n.3690-3T>G) n.3764-3T>G | dbSNP |
| 7 | g.116783302A= | CA1737014190 | MET | c.*1238-2A= (n.*1238-2A=) c.3687-2A= (n.3687-2A=) c.3633-2A= (n.3633-2A=) c.2343-2A= (n.2343-2A=) c.3690-2A= (n.3690-2A=) n.3764-2A= | |
| 7 | g.116783302A>C | CA368991347 | MET | c.*1238-2A>C (n.*1238-2A>C) c.3687-2A>C (n.3687-2A>C) c.3633-2A>C (n.3633-2A>C) c.2343-2A>C (n.2343-2A>C) c.3690-2A>C (n.3690-2A>C) n.3764-2A>C | |
| 7 | g.116783302A>G | CA10584667 | MET | c.*1238-2A>G (n.*1238-2A>G) c.3687-2A>G (n.3687-2A>G) c.3633-2A>G (n.3633-2A>G) c.2343-2A>G (n.2343-2A>G) c.3690-2A>G (n.3690-2A>G) n.3764-2A>G | ClinVar dbSNP COSMIC |
| 7 | g.116783302A>T | CA368991350 | MET | c.*1238-2A>T (n.*1238-2A>T) c.3687-2A>T (n.3687-2A>T) c.3633-2A>T (n.3633-2A>T) c.2343-2A>T (n.2343-2A>T) c.3690-2A>T (n.3690-2A>T) n.3764-2A>T | dbSNP |
| 7 | g.116783303G>A | CA368991352 | MET | c.*1238-1G>A (n.*1238-1G>A) c.3687-1G>A (n.3687-1G>A) c.3633-1G>A (n.3633-1G>A) c.2343-1G>A (n.2343-1G>A) c.3690-1G>A (n.3690-1G>A) n.3764-1G>A | |
| 7 | g.116783303G>C | CA368991353 | MET | c.*1238-1G>C (n.*1238-1G>C) c.3687-1G>C (n.3687-1G>C) c.3633-1G>C (n.3633-1G>C) c.2343-1G>C (n.2343-1G>C) c.3690-1G>C (n.3690-1G>C) n.3764-1G>C | dbSNP |
| 7 | g.116783303G>T | CA368991355 | MET | c.*1238-1G>T (n.*1238-1G>T) c.3687-1G>T (n.3687-1G>T) c.3633-1G>T (n.3633-1G>T) c.2343-1G>T (n.2343-1G>T) c.3690-1G>T (n.3690-1G>T) n.3764-1G>T | dbSNP |
| 7 | g.116783304G>A | CA368991357 | MET | c.*1238G>A (n.*1238G>A) c.3687G>A (p.Met1229Ile) c.3633G>A (p.Met1211Ile) c.2343G>A (p.Met781Ile) c.3690G>A (p.Met1230Ile) n.3764G>A | dbSNP gnomAD v4 |
| 7 | g.116783304G>C | CA368991359 | MET | c.*1238G>C (n.*1238G>C) c.3687G>C (p.Met1229Ile) c.3633G>C (p.Met1211Ile) c.2343G>C (p.Met781Ile) c.3690G>C (p.Met1230Ile) n.3764G>C | dbSNP |
| 7 | g.116783304G>T | CA368991361 | MET | c.*1238G>T (n.*1238G>T) c.3687G>T (p.Met1229Ile) c.3633G>T (p.Met1211Ile) c.2343G>T (p.Met781Ile) c.3690G>T (p.Met1230Ile) n.3764G>T | dbSNP |
| 7 | g.116783305C>A | CA368991363 | MET | c.*1239C>A (n.*1239C>A) c.3688C>A (p.Leu1230Met) c.3634C>A (p.Leu1212Met) c.2344C>A (p.Leu782Met) c.3691C>A (p.Leu1231Met) n.3765C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783305C>G | CA368991365 | MET | c.*1239C>G (n.*1239C>G) c.3688C>G (p.Leu1230Val) c.3634C>G (p.Leu1212Val) c.2344C>G (p.Leu782Val) c.3691C>G (p.Leu1231Val) n.3765C>G | dbSNP |
| 7 | g.116783305C>T | CA457219387 | MET | c.*1239C>T (n.*1239C>T) c.3688C>T (p.Leu1230=) c.3634C>T (p.Leu1212=) c.2344C>T (p.Leu782=) c.3691C>T (p.Leu1231=) n.3765C>T | dbSNP |
| 7 | g.116783306T>A | CA368991371 | MET | c.*1240T>A (n.*1240T>A) c.3689T>A (p.Leu1230Gln) c.3635T>A (p.Leu1212Gln) c.2345T>A (p.Leu782Gln) c.3692T>A (p.Leu1231Gln) n.3766T>A | gnomAD v4 |
| 7 | g.116783306T>C | CA368991369 | MET | c.*1240T>C (n.*1240T>C) c.3689T>C (p.Leu1230Pro) c.3635T>C (p.Leu1212Pro) c.2345T>C (p.Leu782Pro) c.3692T>C (p.Leu1231Pro) n.3766T>C | |
| 7 | g.116783306T>G | CA368991367 | MET | c.*1240T>G (n.*1240T>G) c.3689T>G (p.Leu1230Arg) c.3635T>G (p.Leu1212Arg) c.2345T>G (p.Leu782Arg) c.3692T>G (p.Leu1231Arg) n.3766T>G | |
| 7 | g.116783307G>A | CA457219391 | MET | c.*1241G>A (n.*1241G>A) c.3690G>A (p.Leu1230=) c.3636G>A (p.Leu1212=) c.2346G>A (p.Leu782=) c.3693G>A (p.Leu1231=) n.3767G>A | ClinVar dbSNP |
| 7 | g.116783307G>C | CA457219392 | MET | c.*1241G>C (n.*1241G>C) c.3690G>C (p.Leu1230=) c.3636G>C (p.Leu1212=) c.2346G>C (p.Leu782=) c.3693G>C (p.Leu1231=) n.3767G>C | dbSNP |
| 7 | g.116783307G>T | CA457219393 | MET | c.*1241G>T (n.*1241G>T) c.3690G>T (p.Leu1230=) c.3636G>T (p.Leu1212=) c.2346G>T (p.Leu782=) c.3693G>T (p.Leu1231=) n.3767G>T | ClinVar dbSNP |
| 7 | g.116783308G>A | CA368991373 | MET | c.*1242G>A (n.*1242G>A) c.3691G>A (p.Asp1231Asn) c.3637G>A (p.Asp1213Asn) c.2347G>A (p.Asp783Asn) c.3694G>A (p.Asp1232Asn) n.3768G>A | dbSNP |
| 7 | g.116783308G>C | CA368991376 | MET | c.*1242G>C (n.*1242G>C) c.3691G>C (p.Asp1231His) c.3637G>C (p.Asp1213His) c.2347G>C (p.Asp783His) c.3694G>C (p.Asp1232His) n.3768G>C | dbSNP |
| 7 | g.116783308G>T | CA368991375 | MET | c.*1242G>T (n.*1242G>T) c.3691G>T (p.Asp1231Tyr) c.3637G>T (p.Asp1213Tyr) c.2347G>T (p.Asp783Tyr) c.3694G>T (p.Asp1232Tyr) n.3768G>T | dbSNP |
| 7 | g.116783309A= | CA1737014204 | MET | c.*1243A= (n.*1243A=) c.3692A= (p.Asp1231=) c.3638A= (p.Asp1213=) c.2348A= (p.Asp783=) c.3695A= (p.Asp1232=) n.3769A= | |
| 7 | g.116783309A>C | CA368991379 | MET | c.*1243A>C (n.*1243A>C) c.3692A>C (p.Asp1231Ala) c.3638A>C (p.Asp1213Ala) c.2348A>C (p.Asp783Ala) c.3695A>C (p.Asp1232Ala) n.3769A>C | |
| 7 | g.116783309A>G | CA368991382 | MET | c.*1243A>G (n.*1243A>G) c.3692A>G (p.Asp1231Gly) c.3638A>G (p.Asp1213Gly) c.2348A>G (p.Asp783Gly) c.3695A>G (p.Asp1232Gly) n.3769A>G | |
| 7 | g.116783309A>T | CA368991380 | MET | c.*1243A>T (n.*1243A>T) c.3692A>T (p.Asp1231Val) c.3638A>T (p.Asp1213Val) c.2348A>T (p.Asp783Val) c.3695A>T (p.Asp1232Val) n.3769A>T | dbSNP |
| 7 | g.116783310T>A | CA368991384 | MET | c.*1244T>A (n.*1244T>A) c.3693T>A (p.Asp1231Glu) c.3639T>A (p.Asp1213Glu) c.2349T>A (p.Asp783Glu) c.3696T>A (p.Asp1232Glu) n.3770T>A | dbSNP |
| 7 | g.116783310T>C | CA457219396 | MET | c.*1244T>C (n.*1244T>C) c.3693T>C (p.Asp1231=) c.3639T>C (p.Asp1213=) c.2349T>C (p.Asp783=) c.3696T>C (p.Asp1232=) n.3770T>C | |
| 7 | g.116783310T>G | CA368991385 | MET | c.*1244T>G (n.*1244T>G) c.3693T>G (p.Asp1231Glu) c.3639T>G (p.Asp1213Glu) c.2349T>G (p.Asp783Glu) c.3696T>G (p.Asp1232Glu) n.3770T>G | dbSNP |
| 7 | g.116783311G>A | CA368991387 | MET | c.*1245G>A (n.*1245G>A) c.3694G>A (p.Glu1232Lys) c.3640G>A (p.Glu1214Lys) c.2350G>A (p.Glu784Lys) c.3697G>A (p.Glu1233Lys) n.3771G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116783311G>C | CA368991388 | MET | c.*1245G>C (n.*1245G>C) c.3694G>C (p.Glu1232Gln) c.3640G>C (p.Glu1214Gln) c.2350G>C (p.Glu784Gln) c.3697G>C (p.Glu1233Gln) n.3771G>C | |
| 7 | g.116783311G= | CA1737014221 | MET | c.*1245G= (n.*1245G=) c.3694G= (p.Glu1232=) c.3640G= (p.Glu1214=) c.2350G= (p.Glu784=) c.3697G= (p.Glu1233=) n.3771G= | |
| 7 | g.116783311G>T | CA368991390 | MET | c.*1245G>T (n.*1245G>T) c.3694G>T (p.Glu1232Ter) c.3640G>T (p.Glu1214Ter) c.2350G>T (p.Glu784Ter) c.3697G>T (p.Glu1233Ter) n.3771G>T | |
| 7 | g.116783312A>C | CA368991392 | MET | c.*1246A>C (n.*1246A>C) c.3695A>C (p.Glu1232Ala) c.3641A>C (p.Glu1214Ala) c.2351A>C (p.Glu784Ala) c.3698A>C (p.Glu1233Ala) n.3772A>C | |
| 7 | g.116783312A>G | CA368991394 | MET | c.*1246A>G (n.*1246A>G) c.3695A>G (p.Glu1232Gly) c.3641A>G (p.Glu1214Gly) c.2351A>G (p.Glu784Gly) c.3698A>G (p.Glu1233Gly) n.3772A>G | |
| 7 | g.116783312A>T | CA368991395 | MET | c.*1246A>T (n.*1246A>T) c.3695A>T (p.Glu1232Val) c.3641A>T (p.Glu1214Val) c.2351A>T (p.Glu784Val) c.3698A>T (p.Glu1233Val) n.3772A>T | dbSNP |
| 7 | g.116783313A>C | CA368991397 | MET | c.*1247A>C (n.*1247A>C) c.3696A>C (p.Glu1232Asp) c.3642A>C (p.Glu1214Asp) c.2352A>C (p.Glu784Asp) c.3699A>C (p.Glu1233Asp) n.3773A>C | |
| 7 | g.116783313A>G | CA457219397 | MET | c.*1247A>G (n.*1247A>G) c.3696A>G (p.Glu1232=) c.3642A>G (p.Glu1214=) c.2352A>G (p.Glu784=) c.3699A>G (p.Glu1233=) n.3773A>G | |
| 7 | g.116783313A>T | CA368991399 | MET | c.*1247A>T (n.*1247A>T) c.3696A>T (p.Glu1232Asp) c.3642A>T (p.Glu1214Asp) c.2352A>T (p.Glu784Asp) c.3699A>T (p.Glu1233Asp) n.3773A>T | dbSNP |
| 7 | g.116783314A>C | CA368991405 | MET | c.*1248A>C (n.*1248A>C) c.3697A>C (p.Lys1233Gln) c.3643A>C (p.Lys1215Gln) c.2353A>C (p.Lys785Gln) c.3700A>C (p.Lys1234Gln) n.3774A>C | |
| 7 | g.116783314A>G | CA368991403 | MET | c.*1248A>G (n.*1248A>G) c.3697A>G (p.Lys1233Glu) c.3643A>G (p.Lys1215Glu) c.2353A>G (p.Lys785Glu) c.3700A>G (p.Lys1234Glu) n.3774A>G | |
| 7 | g.116783314A>T | CA368991401 | MET | c.*1248A>T (n.*1248A>T) c.3697A>T (p.Lys1233Ter) c.3643A>T (p.Lys1215Ter) c.2353A>T (p.Lys785Ter) c.3700A>T (p.Lys1234Ter) n.3774A>T | |
| 7 | g.116783315A>C | CA368991407 | MET | c.*1249A>C (n.*1249A>C) c.3698A>C (p.Lys1233Thr) c.3644A>C (p.Lys1215Thr) c.2354A>C (p.Lys785Thr) c.3701A>C (p.Lys1234Thr) n.3775A>C | |
| 7 | g.116783315A>G | CA368991409 | MET | c.*1249A>G (n.*1249A>G) c.3698A>G (p.Lys1233Arg) c.3644A>G (p.Lys1215Arg) c.2354A>G (p.Lys785Arg) c.3701A>G (p.Lys1234Arg) n.3775A>G | |
| 7 | g.116783315A>T | CA368991411 | MET | c.*1249A>T (n.*1249A>T) c.3698A>T (p.Lys1233Ile) c.3644A>T (p.Lys1215Ile) c.2354A>T (p.Lys785Ile) c.3701A>T (p.Lys1234Ile) n.3775A>T | |
| 7 | g.116783316A>C | CA368991412 | MET | c.*1250A>C (n.*1250A>C) c.3699A>C (p.Lys1233Asn) c.3645A>C (p.Lys1215Asn) c.2355A>C (p.Lys785Asn) c.3702A>C (p.Lys1234Asn) n.3776A>C | dbSNP |
| 7 | g.116783316A>G | CA457219401 | MET | c.*1250A>G (n.*1250A>G) c.3699A>G (p.Lys1233=) c.3645A>G (p.Lys1215=) c.2355A>G (p.Lys785=) c.3702A>G (p.Lys1234=) n.3776A>G | |
| 7 | g.116783316A>T | CA368991413 | MET | c.*1250A>T (n.*1250A>T) c.3699A>T (p.Lys1233Asn) c.3645A>T (p.Lys1215Asn) c.2355A>T (p.Lys785Asn) c.3702A>T (p.Lys1234Asn) n.3776A>T | dbSNP |
| 7 | g.116783317T>A | CA368991416 | MET | c.*1251T>A (n.*1251T>A) c.3700T>A (p.Phe1234Ile) c.3646T>A (p.Phe1216Ile) c.2356T>A (p.Phe786Ile) c.3703T>A (p.Phe1235Ile) n.3777T>A | dbSNP |
| 7 | g.116783317T>C | CA368991417 | MET | c.*1251T>C (n.*1251T>C) c.3700T>C (p.Phe1234Leu) c.3646T>C (p.Phe1216Leu) c.2356T>C (p.Phe786Leu) c.3703T>C (p.Phe1235Leu) n.3777T>C | dbSNP |
| 7 | g.116783317T>G | CA368991419 | MET | c.*1251T>G (n.*1251T>G) c.3700T>G (p.Phe1234Val) c.3646T>G (p.Phe1216Val) c.2356T>G (p.Phe786Val) c.3703T>G (p.Phe1235Val) n.3777T>G | dbSNP |
| 7 | g.116783318T>A | CA368991421 | MET | c.*1252T>A (n.*1252T>A) c.3701T>A (p.Phe1234Tyr) c.3647T>A (p.Phe1216Tyr) c.2357T>A (p.Phe786Tyr) c.3704T>A (p.Phe1235Tyr) n.3778T>A | dbSNP gnomAD v4 |
| 7 | g.116783318T>C | CA368991423 | MET | c.*1252T>C (n.*1252T>C) c.3701T>C (p.Phe1234Ser) c.3647T>C (p.Phe1216Ser) c.2357T>C (p.Phe786Ser) c.3704T>C (p.Phe1235Ser) n.3778T>C | |
| 7 | g.116783318T>G | CA368991425 | MET | c.*1252T>G (n.*1252T>G) c.3701T>G (p.Phe1234Cys) c.3647T>G (p.Phe1216Cys) c.2357T>G (p.Phe786Cys) c.3704T>G (p.Phe1235Cys) n.3778T>G | |
| 7 | g.116783319C>A | CA368991429 | MET | c.*1253C>A (n.*1253C>A) c.3702C>A (p.Phe1234Leu) c.3648C>A (p.Phe1216Leu) c.2358C>A (p.Phe786Leu) c.3705C>A (p.Phe1235Leu) n.3779C>A | ClinVar dbSNP |
| 7 | g.116783319C= | CA1737014235 | MET | c.*1253C= (n.*1253C=) c.3702C= (p.Phe1234=) c.3648C= (p.Phe1216=) c.2358C= (p.Phe786=) c.3705C= (p.Phe1235=) n.3779C= | |
| 7 | g.116783319C>G | CA368991427 | MET | c.*1253C>G (n.*1253C>G) c.3702C>G (p.Phe1234Leu) c.3648C>G (p.Phe1216Leu) c.2358C>G (p.Phe786Leu) c.3705C>G (p.Phe1235Leu) n.3779C>G | dbSNP |
| 7 | g.116783319C>T | CA457219402 | MET | c.*1253C>T (n.*1253C>T) c.3702C>T (p.Phe1234=) c.3648C>T (p.Phe1216=) c.2358C>T (p.Phe786=) c.3705C>T (p.Phe1235=) n.3779C>T | dbSNP gnomAD v4 |
| 7 | g.116783321_116783322del | CA2695208362 | MET | c.*1255_*1256del (n.*1255_*1256del) c.3704_3705del (p.Thr1235SerfsTer5) c.3650_3651del (p.Thr1217SerfsTer5) c.2360_2361del (p.Thr787SerfsTer5) c.3707_3708del (p.Thr1236SerfsTer5) n.3781_3782del | |
| 7 | g.116783320A>C | CA368991431 | MET | c.*1254A>C (n.*1254A>C) c.3703A>C (p.Thr1235Pro) c.3649A>C (p.Thr1217Pro) c.2359A>C (p.Thr787Pro) c.3706A>C (p.Thr1236Pro) n.3780A>C | |
| 7 | g.116783320A>G | CA368991433 | MET | c.*1254A>G (n.*1254A>G) c.3703A>G (p.Thr1235Ala) c.3649A>G (p.Thr1217Ala) c.2359A>G (p.Thr787Ala) c.3706A>G (p.Thr1236Ala) n.3780A>G | dbSNP |
| 7 | g.116783320A>T | CA368991435 | MET | c.*1254A>T (n.*1254A>T) c.3703A>T (p.Thr1235Ser) c.3649A>T (p.Thr1217Ser) c.2359A>T (p.Thr787Ser) c.3706A>T (p.Thr1236Ser) n.3780A>T | dbSNP |
| 7 | g.116783321C>A | CA368991437 | MET | c.*1255C>A (n.*1255C>A) c.3704C>A (p.Thr1235Lys) c.3650C>A (p.Thr1217Lys) c.2360C>A (p.Thr787Lys) c.3707C>A (p.Thr1236Lys) n.3781C>A | |
| 7 | g.116783321C>G | CA368991439 | MET | c.*1255C>G (n.*1255C>G) c.3704C>G (p.Thr1235Arg) c.3650C>G (p.Thr1217Arg) c.2360C>G (p.Thr787Arg) c.3707C>G (p.Thr1236Arg) n.3781C>G | dbSNP |
| 7 | g.116783321C>T | CA368991441 | MET | c.*1255C>T (n.*1255C>T) c.3704C>T (p.Thr1235Ile) c.3650C>T (p.Thr1217Ile) c.2360C>T (p.Thr787Ile) c.3707C>T (p.Thr1236Ile) n.3781C>T | dbSNP |
| 7 | g.116783322A= | CA1737014241 | MET | c.*1256A= (n.*1256A=) c.3705A= (p.Thr1235=) c.3651A= (p.Thr1217=) c.2361A= (p.Thr787=) c.3708A= (p.Thr1236=) n.3782A= | |
| 7 | g.116783322A>C | CA4448762 | MET | c.*1256A>C (n.*1256A>C) c.3705A>C (p.Thr1235=) c.3651A>C (p.Thr1217=) c.2361A>C (p.Thr787=) c.3708A>C (p.Thr1236=) n.3782A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783322A>G | CA457219404 | MET | c.*1256A>G (n.*1256A>G) c.3705A>G (p.Thr1235=) c.3651A>G (p.Thr1217=) c.2361A>G (p.Thr787=) c.3708A>G (p.Thr1236=) n.3782A>G | ClinVar gnomAD v4 |
| 7 | g.116783322A>T | CA457219405 | MET | c.*1256A>T (n.*1256A>T) c.3705A>T (p.Thr1235=) c.3651A>T (p.Thr1217=) c.2361A>T (p.Thr787=) c.3708A>T (p.Thr1236=) n.3782A>T | dbSNP gnomAD v4 |
| 7 | g.116783323G>A | CA368991444 | MET | c.*1257G>A (n.*1257G>A) c.3706G>A (p.Val1236Ile) c.3652G>A (p.Val1218Ile) c.2362G>A (p.Val788Ile) c.3709G>A (p.Val1237Ile) n.3783G>A | dbSNP |
| 7 | g.116783323G>C | CA368991446 | MET | c.*1257G>C (n.*1257G>C) c.3706G>C (p.Val1236Leu) c.3652G>C (p.Val1218Leu) c.2362G>C (p.Val788Leu) c.3709G>C (p.Val1237Leu) n.3783G>C | dbSNP gnomAD v4 |
| 7 | g.116783323G>T | CA368991447 | MET | c.*1257G>T (n.*1257G>T) c.3706G>T (p.Val1236Phe) c.3652G>T (p.Val1218Phe) c.2362G>T (p.Val788Phe) c.3709G>T (p.Val1237Phe) n.3783G>T | dbSNP |
| 7 | g.116783324T>A | CA368991449 | MET | c.*1258T>A (n.*1258T>A) c.3707T>A (p.Val1236Asp) c.3653T>A (p.Val1218Asp) c.2363T>A (p.Val788Asp) c.3710T>A (p.Val1237Asp) n.3784T>A | dbSNP |
| 7 | g.116783324T>C | CA368991451 | MET | c.*1258T>C (n.*1258T>C) c.3707T>C (p.Val1236Ala) c.3653T>C (p.Val1218Ala) c.2363T>C (p.Val788Ala) c.3710T>C (p.Val1237Ala) n.3784T>C | ClinVar dbSNP |
| 7 | g.116783324T>G | CA368991453 | MET | c.*1258T>G (n.*1258T>G) c.3707T>G (p.Val1236Gly) c.3653T>G (p.Val1218Gly) c.2363T>G (p.Val788Gly) c.3710T>G (p.Val1237Gly) n.3784T>G | dbSNP |
| 7 | g.116783324T= | CA1737014245 | MET | c.*1258T= (n.*1258T=) c.3707T= (p.Val1236=) c.3653T= (p.Val1218=) c.2363T= (p.Val788=) c.3710T= (p.Val1237=) n.3784T= | |
| 7 | g.116783325C>A | CA457219408 | MET | c.*1259C>A (n.*1259C>A) c.3708C>A (p.Val1236=) c.3654C>A (p.Val1218=) c.2364C>A (p.Val788=) c.3711C>A (p.Val1237=) n.3785C>A | ClinVar |
| 7 | g.116783325C>G | CA457219409 | MET | c.*1259C>G (n.*1259C>G) c.3708C>G (p.Val1236=) c.3654C>G (p.Val1218=) c.2364C>G (p.Val788=) c.3711C>G (p.Val1237=) n.3785C>G | dbSNP |
| 7 | g.116783325C>T | CA457219407 | MET | c.*1259C>T (n.*1259C>T) c.3708C>T (p.Val1236=) c.3654C>T (p.Val1218=) c.2364C>T (p.Val788=) c.3711C>T (p.Val1237=) n.3785C>T | ClinVar dbSNP |
| 7 | g.116783326A>C | CA368991455 | MET | c.*1260A>C (n.*1260A>C) c.3709A>C (p.Lys1237Gln) c.3655A>C (p.Lys1219Gln) c.2365A>C (p.Lys789Gln) c.3712A>C (p.Lys1238Gln) n.3786A>C | |
| 7 | g.116783326A>G | CA368991458 | MET | c.*1260A>G (n.*1260A>G) c.3709A>G (p.Lys1237Glu) c.3655A>G (p.Lys1219Glu) c.2365A>G (p.Lys789Glu) c.3712A>G (p.Lys1238Glu) n.3786A>G | |
| 7 | g.116783326A>T | CA368991456 | MET | c.*1260A>T (n.*1260A>T) c.3709A>T (p.Lys1237Ter) c.3655A>T (p.Lys1219Ter) c.2365A>T (p.Lys789Ter) c.3712A>T (p.Lys1238Ter) n.3786A>T | |
| 7 | g.116783327A>C | CA368991460 | MET | c.*1261A>C (n.*1261A>C) c.3710A>C (p.Lys1237Thr) c.3656A>C (p.Lys1219Thr) c.2366A>C (p.Lys789Thr) c.3713A>C (p.Lys1238Thr) n.3787A>C | |
| 7 | g.116783327A>G | CA368991461 | MET | c.*1261A>G (n.*1261A>G) c.3710A>G (p.Lys1237Arg) c.3656A>G (p.Lys1219Arg) c.2366A>G (p.Lys789Arg) c.3713A>G (p.Lys1238Arg) n.3787A>G | ClinVar |
| 7 | g.116783327A>T | CA368991463 | MET | c.*1261A>T (n.*1261A>T) c.3710A>T (p.Lys1237Met) c.3656A>T (p.Lys1219Met) c.2366A>T (p.Lys789Met) c.3713A>T (p.Lys1238Met) n.3787A>T | dbSNP |
| 7 | g.116783328G>A | CA457219411 | MET | c.*1262G>A (n.*1262G>A) c.3711G>A (p.Lys1237=) c.3657G>A (p.Lys1219=) c.2367G>A (p.Lys789=) c.3714G>A (p.Lys1238=) n.3788G>A | dbSNP |
| 7 | g.116783328G>C | CA368991465 | MET | c.*1262G>C (n.*1262G>C) c.3711G>C (p.Lys1237Asn) c.3657G>C (p.Lys1219Asn) c.2367G>C (p.Lys789Asn) c.3714G>C (p.Lys1238Asn) n.3788G>C | ClinVar dbSNP |
| 7 | g.116783328G= | CA1737014256 | MET | c.*1262G= (n.*1262G=) c.3711G= (p.Lys1237=) c.3657G= (p.Lys1219=) c.2367G= (p.Lys789=) c.3714G= (p.Lys1238=) n.3788G= | |
| 7 | g.116783328G>T | CA368991467 | MET | c.*1262G>T (n.*1262G>T) c.3711G>T (p.Lys1237Asn) c.3657G>T (p.Lys1219Asn) c.2367G>T (p.Lys789Asn) c.3714G>T (p.Lys1238Asn) n.3788G>T | dbSNP |
| 7 | g.116783329G>A | CA256997 | MET | c.*1263G>A (n.*1263G>A) c.3712G>A (p.Val1238Ile) c.3658G>A (p.Val1220Ile) c.2368G>A (p.Val790Ile) c.3715G>A (p.Val1239Ile) n.3789G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116783329G>C | CA368991469 | MET | c.*1263G>C (n.*1263G>C) c.3712G>C (p.Val1238Leu) c.3658G>C (p.Val1220Leu) c.2368G>C (p.Val790Leu) c.3715G>C (p.Val1239Leu) n.3789G>C | ClinVar dbSNP |
| 7 | g.116783329G= | CA1737014260 | MET | c.*1263G= (n.*1263G=) c.3712G= (p.Val1238=) c.3658G= (p.Val1220=) c.2368G= (p.Val790=) c.3715G= (p.Val1239=) n.3789G= | |
| 7 | g.116783329G>T | CA368991472 | MET | c.*1263G>T (n.*1263G>T) c.3712G>T (p.Val1238Phe) c.3658G>T (p.Val1220Phe) c.2368G>T (p.Val790Phe) c.3715G>T (p.Val1239Phe) n.3789G>T | ClinVar dbSNP |
| 7 | g.116783330T>A | CA368991473 | MET | c.*1264T>A (n.*1264T>A) c.3713T>A (p.Val1238Asp) c.3659T>A (p.Val1220Asp) c.2369T>A (p.Val790Asp) c.3716T>A (p.Val1239Asp) n.3790T>A | dbSNP |
| 7 | g.116783330T>C | CA368991475 | MET | c.*1264T>C (n.*1264T>C) c.3713T>C (p.Val1238Ala) c.3659T>C (p.Val1220Ala) c.2369T>C (p.Val790Ala) c.3716T>C (p.Val1239Ala) n.3790T>C | ClinVar dbSNP |
| 7 | g.116783330T>G | CA368991477 | MET | c.*1264T>G (n.*1264T>G) c.3713T>G (p.Val1238Gly) c.3659T>G (p.Val1220Gly) c.2369T>G (p.Val790Gly) c.3716T>G (p.Val1239Gly) n.3790T>G | |
| 7 | g.116783330T= | CA1737014269 | MET | c.*1264T= (n.*1264T=) c.3713T= (p.Val1238=) c.3659T= (p.Val1220=) c.2369T= (p.Val790=) c.3716T= (p.Val1239=) n.3790T= | |
| 7 | g.116783331T>A | CA457219416 | MET | c.*1265T>A (n.*1265T>A) c.3714T>A (p.Val1238=) c.3660T>A (p.Val1220=) c.2370T>A (p.Val790=) c.3717T>A (p.Val1239=) n.3791T>A | dbSNP |
| 7 | g.116783331T>C | CA457219417 | MET | c.*1265T>C (n.*1265T>C) c.3714T>C (p.Val1238=) c.3660T>C (p.Val1220=) c.2370T>C (p.Val790=) c.3717T>C (p.Val1239=) n.3791T>C | |
| 7 | g.116783331T>G | CA457219415 | MET | c.*1265T>G (n.*1265T>G) c.3714T>G (p.Val1238=) c.3660T>G (p.Val1220=) c.2370T>G (p.Val790=) c.3717T>G (p.Val1239=) n.3791T>G | |
| 7 | g.116783332G>A | CA368991481 | MET | c.*1266G>A (n.*1266G>A) c.3715G>A (p.Ala1239Thr) c.3661G>A (p.Ala1221Thr) c.2371G>A (p.Ala791Thr) c.3718G>A (p.Ala1240Thr) n.3792G>A | dbSNP gnomAD v4 |
| 7 | g.116783332G>C | CA368991483 | MET | c.*1266G>C (n.*1266G>C) c.3715G>C (p.Ala1239Pro) c.3661G>C (p.Ala1221Pro) c.2371G>C (p.Ala791Pro) c.3718G>C (p.Ala1240Pro) n.3792G>C | dbSNP |
| 7 | g.116783332G>T | CA368991479 | MET | c.*1266G>T (n.*1266G>T) c.3715G>T (p.Ala1239Ser) c.3661G>T (p.Ala1221Ser) c.2371G>T (p.Ala791Ser) c.3718G>T (p.Ala1240Ser) n.3792G>T | dbSNP |
| 7 | g.116783332_116783333delinsAT | CA2580076299 | MET | c.*1266_*1267delinsAT (n.*1266_*1267delinsAT) c.3715_3716delinsAT (p.Ala1239Ile) c.3661_3662delinsAT (p.Ala1221Ile) c.2371_2372delinsAT (p.Ala791Ile) c.3718_3719delinsAT (p.Ala1240Ile) n.3792_3793delinsAT | ClinVar |
| 7 | g.116783333C>A | CA368991488 | MET | c.*1267C>A (n.*1267C>A) c.3716C>A (p.Ala1239Asp) c.3662C>A (p.Ala1221Asp) c.2372C>A (p.Ala791Asp) c.3719C>A (p.Ala1240Asp) n.3793C>A | dbSNP COSMIC |
| 7 | g.116783333C>G | CA368991485 | MET | c.*1267C>G (n.*1267C>G) c.3716C>G (p.Ala1239Gly) c.3662C>G (p.Ala1221Gly) c.2372C>G (p.Ala791Gly) c.3719C>G (p.Ala1240Gly) n.3793C>G | dbSNP |
| 7 | g.116783333C>T | CA368991487 | MET | c.*1267C>T (n.*1267C>T) c.3716C>T (p.Ala1239Val) c.3662C>T (p.Ala1221Val) c.2372C>T (p.Ala791Val) c.3719C>T (p.Ala1240Val) n.3793C>T | dbSNP gnomAD v4 |
| 7 | g.116783334T>A | CA457219420 | MET | c.*1268T>A (n.*1268T>A) c.3717T>A (p.Ala1239=) c.3663T>A (p.Ala1221=) c.2373T>A (p.Ala791=) c.3720T>A (p.Ala1240=) n.3794T>A | |
| 7 | g.116783334T>C | CA457219418 | MET | c.*1268T>C (n.*1268T>C) c.3717T>C (p.Ala1239=) c.3663T>C (p.Ala1221=) c.2373T>C (p.Ala791=) c.3720T>C (p.Ala1240=) n.3794T>C | |
| 7 | g.116783334T>G | CA457219419 | MET | c.*1268T>G (n.*1268T>G) c.3717T>G (p.Ala1239=) c.3663T>G (p.Ala1221=) c.2373T>G (p.Ala791=) c.3720T>G (p.Ala1240=) n.3794T>G | |
| 7 | g.116783335G>A | CA368991491 | MET | c.*1269G>A (n.*1269G>A) c.3718G>A (p.Asp1240Asn) c.3664G>A (p.Asp1222Asn) c.2374G>A (p.Asp792Asn) c.3721G>A (p.Asp1241Asn) n.3795G>A | dbSNP |
| 7 | g.116783335G>C | CA368991493 | MET | c.*1269G>C (n.*1269G>C) c.3718G>C (p.Asp1240His) c.3664G>C (p.Asp1222His) c.2374G>C (p.Asp792His) c.3721G>C (p.Asp1241His) n.3795G>C | dbSNP |
| 7 | g.116783335G>T | CA368991495 | MET | c.*1269G>T (n.*1269G>T) c.3718G>T (p.Asp1240Tyr) c.3664G>T (p.Asp1222Tyr) c.2374G>T (p.Asp792Tyr) c.3721G>T (p.Asp1241Tyr) n.3795G>T | |
| 7 | g.116783336A>C | CA368991497 | MET | c.*1270A>C (n.*1270A>C) c.3719A>C (p.Asp1240Ala) c.3665A>C (p.Asp1222Ala) c.2375A>C (p.Asp792Ala) c.3722A>C (p.Asp1241Ala) n.3796A>C | |
| 7 | g.116783336A>G | CA368991499 | MET | c.*1270A>G (n.*1270A>G) c.3719A>G (p.Asp1240Gly) c.3665A>G (p.Asp1222Gly) c.2375A>G (p.Asp792Gly) c.3722A>G (p.Asp1241Gly) n.3796A>G | |
| 7 | g.116783336A>T | CA368991501 | MET | c.*1270A>T (n.*1270A>T) c.3719A>T (p.Asp1240Val) c.3665A>T (p.Asp1222Val) c.2375A>T (p.Asp792Val) c.3722A>T (p.Asp1241Val) n.3796A>T | dbSNP |
| 7 | g.116783337T>A | CA368991503 | MET | c.*1271T>A (n.*1271T>A) c.3720T>A (p.Asp1240Glu) c.3666T>A (p.Asp1222Glu) c.2376T>A (p.Asp792Glu) c.3723T>A (p.Asp1241Glu) n.3797T>A | |
| 7 | g.116783337T>C | CA457219422 | MET | c.*1271T>C (n.*1271T>C) c.3720T>C (p.Asp1240=) c.3666T>C (p.Asp1222=) c.2376T>C (p.Asp792=) c.3723T>C (p.Asp1241=) n.3797T>C | |
| 7 | g.116783337T>G | CA368991504 | MET | c.*1271T>G (n.*1271T>G) c.3720T>G (p.Asp1240Glu) c.3666T>G (p.Asp1222Glu) c.2376T>G (p.Asp792Glu) c.3723T>G (p.Asp1241Glu) n.3797T>G | dbSNP |
| 7 | g.116783338T>A | CA368991506 | MET | c.*1272T>A (n.*1272T>A) c.3721T>A (p.Phe1241Ile) c.3667T>A (p.Phe1223Ile) c.2377T>A (p.Phe793Ile) c.3724T>A (p.Phe1242Ile) n.3798T>A | |
| 7 | g.116783338T>C | CA368991508 | MET | c.*1272T>C (n.*1272T>C) c.3721T>C (p.Phe1241Leu) c.3667T>C (p.Phe1223Leu) c.2377T>C (p.Phe793Leu) c.3724T>C (p.Phe1242Leu) n.3798T>C | dbSNP |
| 7 | g.116783338T>G | CA368991509 | MET | c.*1272T>G (n.*1272T>G) c.3721T>G (p.Phe1241Val) c.3667T>G (p.Phe1223Val) c.2377T>G (p.Phe793Val) c.3724T>G (p.Phe1242Val) n.3798T>G | |
| 7 | g.116783339T>A | CA368991514 | MET | c.*1273T>A (n.*1273T>A) c.3722T>A (p.Phe1241Tyr) c.3668T>A (p.Phe1223Tyr) c.2378T>A (p.Phe793Tyr) c.3725T>A (p.Phe1242Tyr) n.3799T>A | dbSNP |
| 7 | g.116783339T>C | CA368991511 | MET | c.*1273T>C (n.*1273T>C) c.3722T>C (p.Phe1241Ser) c.3668T>C (p.Phe1223Ser) c.2378T>C (p.Phe793Ser) c.3725T>C (p.Phe1242Ser) n.3799T>C | |
| 7 | g.116783339T>G | CA368991512 | MET | c.*1273T>G (n.*1273T>G) c.3722T>G (p.Phe1241Cys) c.3668T>G (p.Phe1223Cys) c.2378T>G (p.Phe793Cys) c.3725T>G (p.Phe1242Cys) n.3799T>G | |
| 7 | g.116783340T>A | CA368991516 | MET | c.*1274T>A (n.*1274T>A) c.3723T>A (p.Phe1241Leu) c.3669T>A (p.Phe1223Leu) c.2379T>A (p.Phe793Leu) c.3726T>A (p.Phe1242Leu) n.3800T>A | |
| 7 | g.116783340T>C | CA457219425 | MET | c.*1274T>C (n.*1274T>C) c.3723T>C (p.Phe1241=) c.3669T>C (p.Phe1223=) c.2379T>C (p.Phe793=) c.3726T>C (p.Phe1242=) n.3800T>C | gnomAD v4 |
| 7 | g.116783340T>G | CA368991518 | MET | c.*1274T>G (n.*1274T>G) c.3723T>G (p.Phe1241Leu) c.3669T>G (p.Phe1223Leu) c.2379T>G (p.Phe793Leu) c.3726T>G (p.Phe1242Leu) n.3800T>G | |
| 7 | g.116783341G>A | CA368991521 | MET | c.*1275G>A (n.*1275G>A) c.3724G>A (p.Gly1242Ser) c.3670G>A (p.Gly1224Ser) c.2380G>A (p.Gly794Ser) c.3727G>A (p.Gly1243Ser) n.3801G>A | dbSNP |
| 7 | g.116783341G>C | CA368991522 | MET | c.*1275G>C (n.*1275G>C) c.3724G>C (p.Gly1242Arg) c.3670G>C (p.Gly1224Arg) c.2380G>C (p.Gly794Arg) c.3727G>C (p.Gly1243Arg) n.3801G>C | dbSNP |
| 7 | g.116783341G>T | CA368991523 | MET | c.*1275G>T (n.*1275G>T) c.3724G>T (p.Gly1242Cys) c.3670G>T (p.Gly1224Cys) c.2380G>T (p.Gly794Cys) c.3727G>T (p.Gly1243Cys) n.3801G>T | dbSNP |
| 7 | g.116783342G>A | CA368991525 | MET | c.*1276G>A (n.*1276G>A) c.3725G>A (p.Gly1242Asp) c.3671G>A (p.Gly1224Asp) c.2381G>A (p.Gly794Asp) c.3728G>A (p.Gly1243Asp) n.3802G>A | dbSNP |
| 7 | g.116783342G>C | CA368991527 | MET | c.*1276G>C (n.*1276G>C) c.3725G>C (p.Gly1242Ala) c.3671G>C (p.Gly1224Ala) c.2381G>C (p.Gly794Ala) c.3728G>C (p.Gly1243Ala) n.3802G>C | dbSNP COSMIC |
| 7 | g.116783342G>T | CA368991528 | MET | c.*1276G>T (n.*1276G>T) c.3725G>T (p.Gly1242Val) c.3671G>T (p.Gly1224Val) c.2381G>T (p.Gly794Val) c.3728G>T (p.Gly1243Val) n.3802G>T | dbSNP |
| 7 | g.116783343T>A | CA457219427 | MET | c.*1277T>A (n.*1277T>A) c.3726T>A (p.Gly1242=) c.3672T>A (p.Gly1224=) c.2382T>A (p.Gly794=) c.3729T>A (p.Gly1243=) n.3803T>A | dbSNP |
| 7 | g.116783343T>C | CA4448763 | MET | c.*1277T>C (n.*1277T>C) c.3726T>C (p.Gly1242=) c.3672T>C (p.Gly1224=) c.2382T>C (p.Gly794=) c.3729T>C (p.Gly1243=) n.3803T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783343T>G | CA457219428 | MET | c.*1277T>G (n.*1277T>G) c.3726T>G (p.Gly1242=) c.3672T>G (p.Gly1224=) c.2382T>G (p.Gly794=) c.3729T>G (p.Gly1243=) n.3803T>G | gnomAD v4 |
| 7 | g.116783343T= | CA1737014290 | MET | c.*1277T= (n.*1277T=) c.3726T= (p.Gly1242=) c.3672T= (p.Gly1224=) c.2382T= (p.Gly794=) c.3729T= (p.Gly1243=) n.3803T= | |
| 7 | g.116783344C>A | CA368991530 | MET | c.*1278C>A (n.*1278C>A) c.3727C>A (p.Leu1243Ile) c.3673C>A (p.Leu1225Ile) c.2383C>A (p.Leu795Ile) c.3730C>A (p.Leu1244Ile) n.3804C>A | dbSNP |
| 7 | g.116783344C>G | CA368991532 | MET | c.*1278C>G (n.*1278C>G) c.3727C>G (p.Leu1243Val) c.3673C>G (p.Leu1225Val) c.2383C>G (p.Leu795Val) c.3730C>G (p.Leu1244Val) n.3804C>G | dbSNP |
| 7 | g.116783344C>T | CA368991533 | MET | c.*1278C>T (n.*1278C>T) c.3727C>T (p.Leu1243Phe) c.3673C>T (p.Leu1225Phe) c.2383C>T (p.Leu795Phe) c.3730C>T (p.Leu1244Phe) n.3804C>T | dbSNP |
| 7 | g.116783345T>A | CA368991539 | MET | c.*1279T>A (n.*1279T>A) c.3728T>A (p.Leu1243His) c.3674T>A (p.Leu1225His) c.2384T>A (p.Leu795His) c.3731T>A (p.Leu1244His) n.3805T>A | dbSNP |
| 7 | g.116783345T>C | CA368991537 | MET | c.*1279T>C (n.*1279T>C) c.3728T>C (p.Leu1243Pro) c.3674T>C (p.Leu1225Pro) c.2384T>C (p.Leu795Pro) c.3731T>C (p.Leu1244Pro) n.3805T>C | gnomAD v4 |
| 7 | g.116783345T>G | CA368991535 | MET | c.*1279T>G (n.*1279T>G) c.3728T>G (p.Leu1243Arg) c.3674T>G (p.Leu1225Arg) c.2384T>G (p.Leu795Arg) c.3731T>G (p.Leu1244Arg) n.3805T>G | |
| 7 | g.116783346T>A | CA457219431 | MET | c.*1280T>A (n.*1280T>A) c.3729T>A (p.Leu1243=) c.3675T>A (p.Leu1225=) c.2385T>A (p.Leu795=) c.3732T>A (p.Leu1244=) n.3806T>A | dbSNP gnomAD v4 |
| 7 | g.116783346T>C | CA457219432 | MET | c.*1280T>C (n.*1280T>C) c.3729T>C (p.Leu1243=) c.3675T>C (p.Leu1225=) c.2385T>C (p.Leu795=) c.3732T>C (p.Leu1244=) n.3806T>C | |
| 7 | g.116783346T>G | CA457219433 | MET | c.*1280T>G (n.*1280T>G) c.3729T>G (p.Leu1243=) c.3675T>G (p.Leu1225=) c.2385T>G (p.Leu795=) c.3732T>G (p.Leu1244=) n.3806T>G | |
| 7 | g.116783347G>A | CA368991540 | MET | c.*1281G>A (n.*1281G>A) c.3730G>A (p.Ala1244Thr) c.3676G>A (p.Ala1226Thr) c.2386G>A (p.Ala796Thr) c.3733G>A (p.Ala1245Thr) n.3807G>A | gnomAD v4 |
| 7 | g.116783347G>C | CA368991541 | MET | c.*1281G>C (n.*1281G>C) c.3730G>C (p.Ala1244Pro) c.3676G>C (p.Ala1226Pro) c.2386G>C (p.Ala796Pro) c.3733G>C (p.Ala1245Pro) n.3807G>C | |
| 7 | g.116783347G>T | CA368991543 | MET | c.*1281G>T (n.*1281G>T) c.3730G>T (p.Ala1244Ser) c.3676G>T (p.Ala1226Ser) c.2386G>T (p.Ala796Ser) c.3733G>T (p.Ala1245Ser) n.3807G>T | |
| 7 | g.116783348C>A | CA368991546 | MET | c.*1282C>A (n.*1282C>A) c.3731C>A (p.Ala1244Asp) c.3677C>A (p.Ala1226Asp) c.2387C>A (p.Ala796Asp) c.3734C>A (p.Ala1245Asp) n.3808C>A | dbSNP |
| 7 | g.116783348C>G | CA368991547 | MET | c.*1282C>G (n.*1282C>G) c.3731C>G (p.Ala1244Gly) c.3677C>G (p.Ala1226Gly) c.2387C>G (p.Ala796Gly) c.3734C>G (p.Ala1245Gly) n.3808C>G | dbSNP |
| 7 | g.116783348C>T | CA368991550 | MET | c.*1282C>T (n.*1282C>T) c.3731C>T (p.Ala1244Val) c.3677C>T (p.Ala1226Val) c.2387C>T (p.Ala796Val) c.3734C>T (p.Ala1245Val) n.3808C>T | dbSNP |
| 7 | g.116783349dup | CA645567317 | MET | c.*1283dup (n.*1283dup) c.3732dup (p.Arg1245GlnfsTer5) c.3678dup (p.Arg1227GlnfsTer5) c.2388dup (p.Arg797GlnfsTer5) c.3735dup (p.Arg1246GlnfsTer5) n.3809dup | COSMIC |
| 7 | g.116783349C>A | CA457219434 | MET | c.*1283C>A (n.*1283C>A) c.3732C>A (p.Ala1244=) c.3678C>A (p.Ala1226=) c.2388C>A (p.Ala796=) c.3735C>A (p.Ala1245=) n.3809C>A | dbSNP |
| 7 | g.116783349C= | CA1737014309 | MET | c.*1283C= (n.*1283C=) c.3732C= (p.Ala1244=) c.3678C= (p.Ala1226=) c.2388C= (p.Ala796=) c.3735C= (p.Ala1245=) n.3809C= | |
| 7 | g.116783349C>G | CA457219435 | MET | c.*1283C>G (n.*1283C>G) c.3732C>G (p.Ala1244=) c.3678C>G (p.Ala1226=) c.2388C>G (p.Ala796=) c.3735C>G (p.Ala1245=) n.3809C>G | dbSNP |
| 7 | g.116783349C>T | CA457219437 | MET | c.*1283C>T (n.*1283C>T) c.3732C>T (p.Ala1244=) c.3678C>T (p.Ala1226=) c.2388C>T (p.Ala796=) c.3735C>T (p.Ala1245=) n.3809C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783350A>C | CA457219439 | MET | c.*1284A>C (n.*1284A>C) c.3733A>C (p.Arg1245=) c.3679A>C (p.Arg1227=) c.2389A>C (p.Arg797=) c.3736A>C (p.Arg1246=) n.3810A>C | |
| 7 | g.116783350A>G | CA368991551 | MET | c.*1284A>G (n.*1284A>G) c.3733A>G (p.Arg1245Gly) c.3679A>G (p.Arg1227Gly) c.2389A>G (p.Arg797Gly) c.3736A>G (p.Arg1246Gly) n.3810A>G | ClinVar dbSNP |
| 7 | g.116783350A>T | CA368991552 | MET | c.*1284A>T (n.*1284A>T) c.3733A>T (p.Arg1245Ter) c.3679A>T (p.Arg1227Ter) c.2389A>T (p.Arg797Ter) c.3736A>T (p.Arg1246Ter) n.3810A>T | dbSNP |
| 7 | g.116783351G>A | CA368991555 | MET | c.*1285G>A (n.*1285G>A) c.3734G>A (p.Arg1245Lys) c.3680G>A (p.Arg1227Lys) c.2390G>A (p.Arg797Lys) c.3737G>A (p.Arg1246Lys) n.3811G>A | dbSNP gnomAD v4 |
| 7 | g.116783351G>C | CA368991556 | MET | c.*1285G>C (n.*1285G>C) c.3734G>C (p.Arg1245Thr) c.3680G>C (p.Arg1227Thr) c.2390G>C (p.Arg797Thr) c.3737G>C (p.Arg1246Thr) n.3811G>C | dbSNP |
| 7 | g.116783351G>T | CA368991558 | MET | c.*1285G>T (n.*1285G>T) c.3734G>T (p.Arg1245Ile) c.3680G>T (p.Arg1227Ile) c.2390G>T (p.Arg797Ile) c.3737G>T (p.Arg1246Ile) n.3811G>T | |
| 7 | g.116783352A>C | CA368991560 | MET | c.*1286A>C (n.*1286A>C) c.3735A>C (p.Arg1245Ser) c.3681A>C (p.Arg1227Ser) c.2391A>C (p.Arg797Ser) c.3738A>C (p.Arg1246Ser) n.3812A>C | |
| 7 | g.116783352A>G | CA457219441 | MET | c.*1286A>G (n.*1286A>G) c.3735A>G (p.Arg1245=) c.3681A>G (p.Arg1227=) c.2391A>G (p.Arg797=) c.3738A>G (p.Arg1246=) n.3812A>G | dbSNP |
| 7 | g.116783352A>T | CA368991561 | MET | c.*1286A>T (n.*1286A>T) c.3735A>T (p.Arg1245Ser) c.3681A>T (p.Arg1227Ser) c.2391A>T (p.Arg797Ser) c.3738A>T (p.Arg1246Ser) n.3812A>T | dbSNP |
| 7 | g.116783353G>A | CA257000 | MET | c.*1287G>A (n.*1287G>A) c.3736G>A (p.Asp1246Asn) c.3682G>A (p.Asp1228Asn) c.2392G>A (p.Asp798Asn) c.3739G>A (p.Asp1247Asn) n.3813G>A | ClinVar dbSNP COSMIC |
| 7 | g.116783353G>C | CA16603136 | MET | c.*1287G>C (n.*1287G>C) c.3736G>C (p.Asp1246His) c.3682G>C (p.Asp1228His) c.2392G>C (p.Asp798His) c.3739G>C (p.Asp1247His) n.3813G>C | ClinVar dbSNP COSMIC |
| 7 | g.116783353G= | CA1737014319 | MET | c.*1287G= (n.*1287G=) c.3736G= (p.Asp1246=) c.3682G= (p.Asp1228=) c.2392G= (p.Asp798=) c.3739G= (p.Asp1247=) n.3813G= | |
| 7 | g.116783353G>T | CA368991564 | MET | c.*1287G>T (n.*1287G>T) c.3736G>T (p.Asp1246Tyr) c.3682G>T (p.Asp1228Tyr) c.2392G>T (p.Asp798Tyr) c.3739G>T (p.Asp1247Tyr) n.3813G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783354A>C | CA368991567 | MET | c.*1288A>C (n.*1288A>C) c.3737A>C (p.Asp1246Ala) c.3683A>C (p.Asp1228Ala) c.2393A>C (p.Asp798Ala) c.3740A>C (p.Asp1247Ala) n.3814A>C | dbSNP |
| 7 | g.116783354A>G | CA368991569 | MET | c.*1288A>G (n.*1288A>G) c.3737A>G (p.Asp1246Gly) c.3683A>G (p.Asp1228Gly) c.2393A>G (p.Asp798Gly) c.3740A>G (p.Asp1247Gly) n.3814A>G | |
| 7 | g.116783354A>T | CA368991571 | MET | c.*1288A>T (n.*1288A>T) c.3737A>T (p.Asp1246Val) c.3683A>T (p.Asp1228Val) c.2393A>T (p.Asp798Val) c.3740A>T (p.Asp1247Val) n.3814A>T | dbSNP gnomAD v4 COSMIC |
| 7 | g.116783355C>A | CA368991573 | MET | c.*1289C>A (n.*1289C>A) c.3738C>A (p.Asp1246Glu) c.3684C>A (p.Asp1228Glu) c.2394C>A (p.Asp798Glu) c.3741C>A (p.Asp1247Glu) n.3815C>A | gnomAD v4 |
| 7 | g.116783355C= | CA1737014335 | MET | c.*1289C= (n.*1289C=) c.3738C= (p.Asp1246=) c.3684C= (p.Asp1228=) c.2394C= (p.Asp798=) c.3741C= (p.Asp1247=) n.3815C= | |
| 7 | g.116783355C>G | CA368991575 | MET | c.*1289C>G (n.*1289C>G) c.3738C>G (p.Asp1246Glu) c.3684C>G (p.Asp1228Glu) c.2394C>G (p.Asp798Glu) c.3741C>G (p.Asp1247Glu) n.3815C>G | ClinVar dbSNP |
| 7 | g.116783355C>T | CA189668 | MET | c.*1289C>T (n.*1289C>T) c.3738C>T (p.Asp1246=) c.3684C>T (p.Asp1228=) c.2394C>T (p.Asp798=) c.3741C>T (p.Asp1247=) n.3815C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783356A= | CA1737014360 | MET | c.*1290A= (n.*1290A=) c.3739A= (p.Met1247=) c.3685A= (p.Met1229=) c.2395A= (p.Met799=) c.3742A= (p.Met1248=) n.3816A= | |
| 7 | g.116783356A>C | CA368991578 | MET | c.*1290A>C (n.*1290A>C) c.3739A>C (p.Met1247Leu) c.3685A>C (p.Met1229Leu) c.2395A>C (p.Met799Leu) c.3742A>C (p.Met1248Leu) n.3816A>C | |
| 7 | g.116783356A>G | CA4448764 | MET | c.*1290A>G (n.*1290A>G) c.3739A>G (p.Met1247Val) c.3685A>G (p.Met1229Val) c.2395A>G (p.Met799Val) c.3742A>G (p.Met1248Val) n.3816A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783356A>T | CA368991580 | MET | c.*1290A>T (n.*1290A>T) c.3739A>T (p.Met1247Leu) c.3685A>T (p.Met1229Leu) c.2395A>T (p.Met799Leu) c.3742A>T (p.Met1248Leu) n.3816A>T | dbSNP |
| 7 | g.116783357T>A | CA368991582 | MET | c.*1291T>A (n.*1291T>A) c.3740T>A (p.Met1247Lys) c.3686T>A (p.Met1229Lys) c.2396T>A (p.Met799Lys) c.3743T>A (p.Met1248Lys) n.3817T>A | |
| 7 | g.116783357T>C | CA368991584 | MET | c.*1291T>C (n.*1291T>C) c.3740T>C (p.Met1247Thr) c.3686T>C (p.Met1229Thr) c.2396T>C (p.Met799Thr) c.3743T>C (p.Met1248Thr) n.3817T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783357T>G | CA368991586 | MET | c.*1291T>G (n.*1291T>G) c.3740T>G (p.Met1247Arg) c.3686T>G (p.Met1229Arg) c.2396T>G (p.Met799Arg) c.3743T>G (p.Met1248Arg) n.3817T>G | dbSNP |
| 7 | g.116783357T= | CA1737014368 | MET | c.*1291T= (n.*1291T=) c.3740T= (p.Met1247=) c.3686T= (p.Met1229=) c.2396T= (p.Met799=) c.3743T= (p.Met1248=) n.3817T= | |
| 7 | g.116783358G>A | CA368991591 | MET | c.*1292G>A (n.*1292G>A) c.3741G>A (p.Met1247Ile) c.3687G>A (p.Met1229Ile) c.2397G>A (p.Met799Ile) c.3744G>A (p.Met1248Ile) n.3818G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783358G>C | CA368991590 | MET | c.*1292G>C (n.*1292G>C) c.3741G>C (p.Met1247Ile) c.3687G>C (p.Met1229Ile) c.2397G>C (p.Met799Ile) c.3744G>C (p.Met1248Ile) n.3818G>C | dbSNP |
| 7 | g.116783358G= | CA1737014376 | MET | c.*1292G= (n.*1292G=) c.3741G= (p.Met1247=) c.3687G= (p.Met1229=) c.2397G= (p.Met799=) c.3744G= (p.Met1248=) n.3818G= | |
| 7 | g.116783358G>T | CA368991588 | MET | c.*1292G>T (n.*1292G>T) c.3741G>T (p.Met1247Ile) c.3687G>T (p.Met1229Ile) c.2397G>T (p.Met799Ile) c.3744G>T (p.Met1248Ile) n.3818G>T | dbSNP |
| 7 | g.116783359T>A | CA368991593 | MET | c.*1293T>A (n.*1293T>A) c.3742T>A (p.Tyr1248Asn) c.3688T>A (p.Tyr1230Asn) c.2398T>A (p.Tyr800Asn) c.3745T>A (p.Tyr1249Asn) n.3819T>A | dbSNP |
| 7 | g.116783359T>C | CA241164 | MET | c.*1293T>C (n.*1293T>C) c.3742T>C (p.Tyr1248His) c.3688T>C (p.Tyr1230His) c.2398T>C (p.Tyr800His) c.3745T>C (p.Tyr1249His) n.3819T>C | ClinVar dbSNP COSMIC |
| 7 | g.116783359T>G | CA368991595 | MET | c.*1293T>G (n.*1293T>G) c.3742T>G (p.Tyr1248Asp) c.3688T>G (p.Tyr1230Asp) c.2398T>G (p.Tyr800Asp) c.3745T>G (p.Tyr1249Asp) n.3819T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783359T= | CA1737014380 | MET | c.*1293T= (n.*1293T=) c.3742T= (p.Tyr1248=) c.3688T= (p.Tyr1230=) c.2398T= (p.Tyr800=) c.3745T= (p.Tyr1249=) n.3819T= | |
| 7 | g.116783360A= | CA1737014383 | MET | c.*1294A= (n.*1294A=) c.3743A= (p.Tyr1248=) c.3689A= (p.Tyr1230=) c.2399A= (p.Tyr800=) c.3746A= (p.Tyr1249=) n.3820A= | |
| 7 | g.116783360A>C | CA368991597 | MET | c.*1294A>C (n.*1294A>C) c.3743A>C (p.Tyr1248Ser) c.3689A>C (p.Tyr1230Ser) c.2399A>C (p.Tyr800Ser) c.3746A>C (p.Tyr1249Ser) n.3820A>C | |
| 7 | g.116783360A>G | CA257003 | MET | c.*1294A>G (n.*1294A>G) c.3743A>G (p.Tyr1248Cys) c.3689A>G (p.Tyr1230Cys) c.2399A>G (p.Tyr800Cys) c.3746A>G (p.Tyr1249Cys) n.3820A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116783360A>T | CA368991598 | MET | c.*1294A>T (n.*1294A>T) c.3743A>T (p.Tyr1248Phe) c.3689A>T (p.Tyr1230Phe) c.2399A>T (p.Tyr800Phe) c.3746A>T (p.Tyr1249Phe) n.3820A>T | dbSNP |
| 7 | g.116783361T>A | CA368991600 | MET | c.*1295T>A (n.*1295T>A) c.3744T>A (p.Tyr1248Ter) c.3690T>A (p.Tyr1230Ter) c.2400T>A (p.Tyr800Ter) c.3747T>A (p.Tyr1249Ter) n.3821T>A | dbSNP |
| 7 | g.116783361T>C | CA457219448 | MET | c.*1295T>C (n.*1295T>C) c.3744T>C (p.Tyr1248=) c.3690T>C (p.Tyr1230=) c.2400T>C (p.Tyr800=) c.3747T>C (p.Tyr1249=) n.3821T>C | ClinVar dbSNP |
| 7 | g.116783361T>G | CA368991602 | MET | c.*1295T>G (n.*1295T>G) c.3744T>G (p.Tyr1248Ter) c.3690T>G (p.Tyr1230Ter) c.2400T>G (p.Tyr800Ter) c.3747T>G (p.Tyr1249Ter) n.3821T>G | |
| 7 | g.116783361T= | CA1737014392 | MET | c.*1295T= (n.*1295T=) c.3744T= (p.Tyr1248=) c.3690T= (p.Tyr1230=) c.2400T= (p.Tyr800=) c.3747T= (p.Tyr1249=) n.3821T= | |
| 7 | g.116783362G>A | CA368991603 | MET | c.*1296G>A (n.*1296G>A) c.3745G>A (p.Asp1249Asn) c.3691G>A (p.Asp1231Asn) c.2401G>A (p.Asp801Asn) c.3748G>A (p.Asp1250Asn) n.3822G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116783362G>C | CA368991604 | MET | c.*1296G>C (n.*1296G>C) c.3745G>C (p.Asp1249His) c.3691G>C (p.Asp1231His) c.2401G>C (p.Asp801His) c.3748G>C (p.Asp1250His) n.3822G>C | |
| 7 | g.116783362G= | CA1737014397 | MET | c.*1296G= (n.*1296G=) c.3745G= (p.Asp1249=) c.3691G= (p.Asp1231=) c.2401G= (p.Asp801=) c.3748G= (p.Asp1250=) n.3822G= | |
| 7 | g.116783362G>T | CA368991606 | MET | c.*1296G>T (n.*1296G>T) c.3745G>T (p.Asp1249Tyr) c.3691G>T (p.Asp1231Tyr) c.2401G>T (p.Asp801Tyr) c.3748G>T (p.Asp1250Tyr) n.3822G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783363A= | CA1737014402 | MET | c.*1297A= (n.*1297A=) c.3746A= (p.Asp1249=) c.3692A= (p.Asp1231=) c.2402A= (p.Asp801=) c.3749A= (p.Asp1250=) n.3823A= | |
| 7 | g.116783363A>C | CA368991607 | MET | c.*1297A>C (n.*1297A>C) c.3746A>C (p.Asp1249Ala) c.3692A>C (p.Asp1231Ala) c.2402A>C (p.Asp801Ala) c.3749A>C (p.Asp1250Ala) n.3823A>C | |
| 7 | g.116783363A>G | CA368991608 | MET | c.*1297A>G (n.*1297A>G) c.3746A>G (p.Asp1249Gly) c.3692A>G (p.Asp1231Gly) c.2402A>G (p.Asp801Gly) c.3749A>G (p.Asp1250Gly) n.3823A>G | ClinVar gnomAD v4 |
| 7 | g.116783363A>T | CA368991609 | MET | c.*1297A>T (n.*1297A>T) c.3746A>T (p.Asp1249Val) c.3692A>T (p.Asp1231Val) c.2402A>T (p.Asp801Val) c.3749A>T (p.Asp1250Val) n.3823A>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783364T>A | CA368991611 | MET | c.*1298T>A (n.*1298T>A) c.3747T>A (p.Asp1249Glu) c.3693T>A (p.Asp1231Glu) c.2403T>A (p.Asp801Glu) c.3750T>A (p.Asp1250Glu) n.3824T>A | |
| 7 | g.116783364T>C | CA457219451 | MET | c.*1298T>C (n.*1298T>C) c.3747T>C (p.Asp1249=) c.3693T>C (p.Asp1231=) c.2403T>C (p.Asp801=) c.3750T>C (p.Asp1250=) n.3824T>C | gnomAD v4 |
| 7 | g.116783364T>G | CA368991613 | MET | c.*1298T>G (n.*1298T>G) c.3747T>G (p.Asp1249Glu) c.3693T>G (p.Asp1231Glu) c.2403T>G (p.Asp801Glu) c.3750T>G (p.Asp1250Glu) n.3824T>G | |
| 7 | g.116783365A>C | CA368991617 | MET | c.*1299A>C (n.*1299A>C) c.3748A>C (p.Lys1250Gln) c.3694A>C (p.Lys1232Gln) c.2404A>C (p.Lys802Gln) c.3751A>C (p.Lys1251Gln) n.3825A>C | |
| 7 | g.116783365A>G | CA368991616 | MET | c.*1299A>G (n.*1299A>G) c.3748A>G (p.Lys1250Glu) c.3694A>G (p.Lys1232Glu) c.2404A>G (p.Lys802Glu) c.3751A>G (p.Lys1251Glu) n.3825A>G | |
| 7 | g.116783365A>T | CA368991615 | MET | c.*1299A>T (n.*1299A>T) c.3748A>T (p.Lys1250Ter) c.3694A>T (p.Lys1232Ter) c.2404A>T (p.Lys802Ter) c.3751A>T (p.Lys1251Ter) n.3825A>T | |
| 7 | g.116783366A>C | CA368991620 | MET | c.*1300A>C (n.*1300A>C) c.3749A>C (p.Lys1250Thr) c.3695A>C (p.Lys1232Thr) c.2405A>C (p.Lys802Thr) c.3752A>C (p.Lys1251Thr) n.3826A>C | |
| 7 | g.116783366A>G | CA368991621 | MET | c.*1300A>G (n.*1300A>G) c.3749A>G (p.Lys1250Arg) c.3695A>G (p.Lys1232Arg) c.2405A>G (p.Lys802Arg) c.3752A>G (p.Lys1251Arg) n.3826A>G | |
| 7 | g.116783366A>T | CA368991623 | MET | c.*1300A>T (n.*1300A>T) c.3749A>T (p.Lys1250Ile) c.3695A>T (p.Lys1232Ile) c.2405A>T (p.Lys802Ile) c.3752A>T (p.Lys1251Ile) n.3826A>T | |
| 7 | g.116783367A>C | CA368991625 | MET | c.*1301A>C (n.*1301A>C) c.3750A>C (p.Lys1250Asn) c.3696A>C (p.Lys1232Asn) c.2406A>C (p.Lys802Asn) c.3753A>C (p.Lys1251Asn) n.3827A>C | |
| 7 | g.116783367A>G | CA457219452 | MET | c.*1301A>G (n.*1301A>G) c.3750A>G (p.Lys1250=) c.3696A>G (p.Lys1232=) c.2406A>G (p.Lys802=) c.3753A>G (p.Lys1251=) n.3827A>G | dbSNP |
| 7 | g.116783367A>T | CA368991627 | MET | c.*1301A>T (n.*1301A>T) c.3750A>T (p.Lys1250Asn) c.3696A>T (p.Lys1232Asn) c.2406A>T (p.Lys802Asn) c.3753A>T (p.Lys1251Asn) n.3827A>T | |
| 7 | g.116783368G>A | CA368991629 | MET | c.*1302G>A (n.*1302G>A) c.3751G>A (p.Glu1251Lys) c.3697G>A (p.Glu1233Lys) c.2407G>A (p.Glu803Lys) c.3754G>A (p.Glu1252Lys) n.3828G>A | dbSNP |
| 7 | g.116783368G>C | CA368991631 | MET | c.*1302G>C (n.*1302G>C) c.3751G>C (p.Glu1251Gln) c.3697G>C (p.Glu1233Gln) c.2407G>C (p.Glu803Gln) c.3754G>C (p.Glu1252Gln) n.3828G>C | dbSNP |
| 7 | g.116783368G>T | CA368991632 | MET | c.*1302G>T (n.*1302G>T) c.3751G>T (p.Glu1251Ter) c.3697G>T (p.Glu1233Ter) c.2407G>T (p.Glu803Ter) c.3754G>T (p.Glu1252Ter) n.3828G>T | |
| 7 | g.116783369A>C | CA368991634 | MET | c.*1303A>C (n.*1303A>C) c.3752A>C (p.Glu1251Ala) c.3698A>C (p.Glu1233Ala) c.2408A>C (p.Glu803Ala) c.3755A>C (p.Glu1252Ala) n.3829A>C | |
| 7 | g.116783369A>G | CA368991636 | MET | c.*1303A>G (n.*1303A>G) c.3752A>G (p.Glu1251Gly) c.3698A>G (p.Glu1233Gly) c.2408A>G (p.Glu803Gly) c.3755A>G (p.Glu1252Gly) n.3829A>G | |
| 7 | g.116783369A>T | CA368991638 | MET | c.*1303A>T (n.*1303A>T) c.3752A>T (p.Glu1251Val) c.3698A>T (p.Glu1233Val) c.2408A>T (p.Glu803Val) c.3755A>T (p.Glu1252Val) n.3829A>T | |
| 7 | g.116783370A>C | CA368991640 | MET | c.*1304A>C (n.*1304A>C) c.3753A>C (p.Glu1251Asp) c.3699A>C (p.Glu1233Asp) c.2409A>C (p.Glu803Asp) c.3756A>C (p.Glu1252Asp) n.3830A>C | |
| 7 | g.116783370A>G | CA457219454 | MET | c.*1304A>G (n.*1304A>G) c.3753A>G (p.Glu1251=) c.3699A>G (p.Glu1233=) c.2409A>G (p.Glu803=) c.3756A>G (p.Glu1252=) n.3830A>G | |
| 7 | g.116783370A>T | CA368991641 | MET | c.*1304A>T (n.*1304A>T) c.3753A>T (p.Glu1251Asp) c.3699A>T (p.Glu1233Asp) c.2409A>T (p.Glu803Asp) c.3756A>T (p.Glu1252Asp) n.3830A>T | |
| 7 | g.116783371T>A | CA368991645 | MET | c.*1305T>A (n.*1305T>A) c.3754T>A (p.Tyr1252Asn) c.3700T>A (p.Tyr1234Asn) c.2410T>A (p.Tyr804Asn) c.3757T>A (p.Tyr1253Asn) n.3831T>A | dbSNP |
| 7 | g.116783371T>C | CA368991646 | MET | c.*1305T>C (n.*1305T>C) c.3754T>C (p.Tyr1252His) c.3700T>C (p.Tyr1234His) c.2410T>C (p.Tyr804His) c.3757T>C (p.Tyr1253His) n.3831T>C | |
| 7 | g.116783371T>G | CA368991643 | MET | c.*1305T>G (n.*1305T>G) c.3754T>G (p.Tyr1252Asp) c.3700T>G (p.Tyr1234Asp) c.2410T>G (p.Tyr804Asp) c.3757T>G (p.Tyr1253Asp) n.3831T>G | |
| 7 | g.116783372A= | CA1737014413 | MET | c.*1306A= (n.*1306A=) c.3755A= (p.Tyr1252=) c.3701A= (p.Tyr1234=) c.2411A= (p.Tyr804=) c.3758A= (p.Tyr1253=) n.3832A= | |
| 7 | g.116783372A>C | CA368991648 | MET | c.*1306A>C (n.*1306A>C) c.3755A>C (p.Tyr1252Ser) c.3701A>C (p.Tyr1234Ser) c.2411A>C (p.Tyr804Ser) c.3758A>C (p.Tyr1253Ser) n.3832A>C | dbSNP |
| 7 | g.116783372A>G | CA368991650 | MET | c.*1306A>G (n.*1306A>G) c.3755A>G (p.Tyr1252Cys) c.3701A>G (p.Tyr1234Cys) c.2411A>G (p.Tyr804Cys) c.3758A>G (p.Tyr1253Cys) n.3832A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783372A>T | CA368991651 | MET | c.*1306A>T (n.*1306A>T) c.3755A>T (p.Tyr1252Phe) c.3701A>T (p.Tyr1234Phe) c.2411A>T (p.Tyr804Phe) c.3758A>T (p.Tyr1253Phe) n.3832A>T | dbSNP |
| 7 | g.116783373C>A | CA368991653 | MET | c.*1307C>A (n.*1307C>A) c.3756C>A (p.Tyr1252Ter) c.3702C>A (p.Tyr1234Ter) c.2412C>A (p.Tyr804Ter) c.3759C>A (p.Tyr1253Ter) n.3833C>A | dbSNP |
| 7 | g.116783373C= | CA1737014423 | MET | c.*1307C= (n.*1307C=) c.3756C= (p.Tyr1252=) c.3702C= (p.Tyr1234=) c.2412C= (p.Tyr804=) c.3759C= (p.Tyr1253=) n.3833C= | |
| 7 | g.116783373C>G | CA368991654 | MET | c.*1307C>G (n.*1307C>G) c.3756C>G (p.Tyr1252Ter) c.3702C>G (p.Tyr1234Ter) c.2412C>G (p.Tyr804Ter) c.3759C>G (p.Tyr1253Ter) n.3833C>G | dbSNP |
| 7 | g.116783373C>T | CA4448765 | MET | c.*1307C>T (n.*1307C>T) c.3756C>T (p.Tyr1252=) c.3702C>T (p.Tyr1234=) c.2412C>T (p.Tyr804=) c.3759C>T (p.Tyr1253=) n.3833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783374T>A | CA368991657 | MET | c.*1308T>A (n.*1308T>A) c.3757T>A (p.Tyr1253Asn) c.3703T>A (p.Tyr1235Asn) c.2413T>A (p.Tyr805Asn) c.3760T>A (p.Tyr1254Asn) n.3834T>A | dbSNP |
| 7 | g.116783374T>C | CA368991658 | MET | c.*1308T>C (n.*1308T>C) c.3757T>C (p.Tyr1253His) c.3703T>C (p.Tyr1235His) c.2413T>C (p.Tyr805His) c.3760T>C (p.Tyr1254His) n.3834T>C | dbSNP COSMIC |
| 7 | g.116783374T>G | CA16602655 | MET | c.*1308T>G (n.*1308T>G) c.3757T>G (p.Tyr1253Asp) c.3703T>G (p.Tyr1235Asp) c.2413T>G (p.Tyr805Asp) c.3760T>G (p.Tyr1254Asp) n.3834T>G | ClinVar dbSNP COSMIC |
| 7 | g.116783374T= | CA1737014432 | MET | c.*1308T= (n.*1308T=) c.3757T= (p.Tyr1253=) c.3703T= (p.Tyr1235=) c.2413T= (p.Tyr805=) c.3760T= (p.Tyr1254=) n.3834T= | |
| 7 | g.116783375A>C | CA368991659 | MET | c.*1309A>C (n.*1309A>C) c.3758A>C (p.Tyr1253Ser) c.3704A>C (p.Tyr1235Ser) c.2414A>C (p.Tyr805Ser) c.3761A>C (p.Tyr1254Ser) n.3835A>C | |
| 7 | g.116783375A>G | CA368991661 | MET | c.*1309A>G (n.*1309A>G) c.3758A>G (p.Tyr1253Cys) c.3704A>G (p.Tyr1235Cys) c.2414A>G (p.Tyr805Cys) c.3761A>G (p.Tyr1254Cys) n.3835A>G | ClinVar |
| 7 | g.116783375A>T | CA368991663 | MET | c.*1309A>T (n.*1309A>T) c.3758A>T (p.Tyr1253Phe) c.3704A>T (p.Tyr1235Phe) c.2414A>T (p.Tyr805Phe) c.3761A>T (p.Tyr1254Phe) n.3835A>T | dbSNP |
| 7 | g.116783376T>A | CA368991666 | MET | c.*1310T>A (n.*1310T>A) c.3759T>A (p.Tyr1253Ter) c.3705T>A (p.Tyr1235Ter) c.2415T>A (p.Tyr805Ter) c.3762T>A (p.Tyr1254Ter) n.3836T>A | dbSNP |
| 7 | g.116783376T>C | CA4448766 | MET | c.*1310T>C (n.*1310T>C) c.3759T>C (p.Tyr1253=) c.3705T>C (p.Tyr1235=) c.2415T>C (p.Tyr805=) c.3762T>C (p.Tyr1254=) n.3836T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783376T>G | CA368991664 | MET | c.*1310T>G (n.*1310T>G) c.3759T>G (p.Tyr1253Ter) c.3705T>G (p.Tyr1235Ter) c.2415T>G (p.Tyr805Ter) c.3762T>G (p.Tyr1254Ter) n.3836T>G | gnomAD v4 |
| 7 | g.116783376T= | CA1737014441 | MET | c.*1310T= (n.*1310T=) c.3759T= (p.Tyr1253=) c.3705T= (p.Tyr1235=) c.2415T= (p.Tyr805=) c.3762T= (p.Tyr1254=) n.3836T= |