| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116763206T>A | CA368983514 | MET | c.2521T>A (p.Phe841Ile) c.*126T>A (n.*126T>A) c.2575T>A (p.Phe859Ile) c.361T>A (p.Phe121Ile) c.1231T>A (p.Phe411Ile) c.2578T>A (p.Phe860Ile) n.2652T>A | dbSNP |
| 7 | g.116763206T>C | CA368983512 | MET | c.2521T>C (p.Phe841Leu) c.*126T>C (n.*126T>C) c.2575T>C (p.Phe859Leu) c.361T>C (p.Phe121Leu) c.1231T>C (p.Phe411Leu) c.2578T>C (p.Phe860Leu) n.2652T>C | |
| 7 | g.116763206T>G | CA212644 | MET | c.2521T>G (p.Phe841Val) c.*126T>G (n.*126T>G) c.2575T>G (p.Phe859Val) c.361T>G (p.Phe121Val) c.1231T>G (p.Phe411Val) c.2578T>G (p.Phe860Val) n.2652T>G | ClinVar dbSNP |
| 7 | g.116763206T= | CA1737029662 | MET | c.2521T= (p.Phe841=) c.*126T= (n.*126T=) c.2575T= (p.Phe859=) c.361T= (p.Phe121=) c.1231T= (p.Phe411=) c.2578T= (p.Phe860=) n.2652T= | |
| 7 | g.116763207T>A | CA368983515 | MET | c.2522T>A (p.Phe841Tyr) c.*127T>A (n.*127T>A) c.2576T>A (p.Phe859Tyr) c.362T>A (p.Phe121Tyr) c.1232T>A (p.Phe411Tyr) c.2579T>A (p.Phe860Tyr) n.2653T>A | dbSNP |
| 7 | g.116763207T>C | CA368983517 | MET | c.2522T>C (p.Phe841Ser) c.*127T>C (n.*127T>C) c.2576T>C (p.Phe859Ser) c.362T>C (p.Phe121Ser) c.1232T>C (p.Phe411Ser) c.2579T>C (p.Phe860Ser) n.2653T>C | |
| 7 | g.116763207T>G | CA368983519 | MET | c.2522T>G (p.Phe841Cys) c.*127T>G (n.*127T>G) c.2576T>G (p.Phe859Cys) c.362T>G (p.Phe121Cys) c.1232T>G (p.Phe411Cys) c.2579T>G (p.Phe860Cys) n.2653T>G | |
| 7 | g.116763208T>A | CA368983520 | MET | c.2523T>A (p.Phe841Leu) c.*128T>A (n.*128T>A) c.2577T>A (p.Phe859Leu) c.363T>A (p.Phe121Leu) c.1233T>A (p.Phe411Leu) c.2580T>A (p.Phe860Leu) n.2654T>A | |
| 7 | g.116763208T>C | CA457441482 | MET | c.2523T>C (p.Phe841=) c.*128T>C (n.*128T>C) c.2577T>C (p.Phe859=) c.363T>C (p.Phe121=) c.1233T>C (p.Phe411=) c.2580T>C (p.Phe860=) n.2654T>C | |
| 7 | g.116763208T>G | CA368983521 | MET | c.2523T>G (p.Phe841Leu) c.*128T>G (n.*128T>G) c.2577T>G (p.Phe859Leu) c.363T>G (p.Phe121Leu) c.1233T>G (p.Phe411Leu) c.2580T>G (p.Phe860Leu) n.2654T>G | |
| 7 | g.116763208_116763211dup | CA2684591480 | MET | c.2523_2526dup (p.Pro843Ter) c.*128_*131dup (n.*128_*131dup) c.2577_2580dup (p.Pro861Ter) c.363_366dup (p.Pro123Ter) c.1233_1236dup (p.Pro413Ter) c.2580_2583dup (p.Pro862Ter) n.2654_2657dup | gnomAD v4 |
| 7 | g.116763209A>C | CA368983523 | MET | c.2524A>C (p.Lys842Gln) c.*129A>C (n.*129A>C) c.2578A>C (p.Lys860Gln) c.364A>C (p.Lys122Gln) c.1234A>C (p.Lys412Gln) c.2581A>C (p.Lys861Gln) n.2655A>C | |
| 7 | g.116763209A>G | CA368983527 | MET | c.2524A>G (p.Lys842Glu) c.*129A>G (n.*129A>G) c.2578A>G (p.Lys860Glu) c.364A>G (p.Lys122Glu) c.1234A>G (p.Lys412Glu) c.2581A>G (p.Lys861Glu) n.2655A>G | |
| 7 | g.116763209A>T | CA368983525 | MET | c.2524A>T (p.Lys842Ter) c.*129A>T (n.*129A>T) c.2578A>T (p.Lys860Ter) c.364A>T (p.Lys122Ter) c.1234A>T (p.Lys412Ter) c.2581A>T (p.Lys861Ter) n.2655A>T | dbSNP |
| 7 | g.116763210A>C | CA368983528 | MET | c.2525A>C (p.Lys842Thr) c.*130A>C (n.*130A>C) c.2579A>C (p.Lys860Thr) c.365A>C (p.Lys122Thr) c.1235A>C (p.Lys412Thr) c.2582A>C (p.Lys861Thr) n.2656A>C | |
| 7 | g.116763210A>G | CA368983529 | MET | c.2525A>G (p.Lys842Arg) c.*130A>G (n.*130A>G) c.2579A>G (p.Lys860Arg) c.365A>G (p.Lys122Arg) c.1235A>G (p.Lys412Arg) c.2582A>G (p.Lys861Arg) n.2656A>G | dbSNP |
| 7 | g.116763210A>T | CA368983531 | MET | c.2525A>T (p.Lys842Met) c.*130A>T (n.*130A>T) c.2579A>T (p.Lys860Met) c.365A>T (p.Lys122Met) c.1235A>T (p.Lys412Met) c.2582A>T (p.Lys861Met) n.2656A>T | dbSNP |
| 7 | g.116763211G>A | CA457441495 | MET | c.2526G>A (p.Lys842=) c.*131G>A (n.*131G>A) c.2580G>A (p.Lys860=) c.366G>A (p.Lys122=) c.1236G>A (p.Lys412=) c.2583G>A (p.Lys861=) n.2657G>A | dbSNP gnomAD v4 |
| 7 | g.116763211G>C | CA368983533 | MET | c.2526G>C (p.Lys842Asn) c.*131G>C (n.*131G>C) c.2580G>C (p.Lys860Asn) c.366G>C (p.Lys122Asn) c.1236G>C (p.Lys412Asn) c.2583G>C (p.Lys861Asn) n.2657G>C | dbSNP |
| 7 | g.116763211G>T | CA368983534 | MET | c.2526G>T (p.Lys842Asn) c.*131G>T (n.*131G>T) c.2580G>T (p.Lys860Asn) c.366G>T (p.Lys122Asn) c.1236G>T (p.Lys412Asn) c.2583G>T (p.Lys861Asn) n.2657G>T | dbSNP |
| 7 | g.116763212C>A | CA368983536 | MET | c.2527C>A (p.Pro843Thr) c.*132C>A (n.*132C>A) c.2581C>A (p.Pro861Thr) c.367C>A (p.Pro123Thr) c.1237C>A (p.Pro413Thr) c.2584C>A (p.Pro862Thr) n.2658C>A | ClinVar dbSNP |
| 7 | g.116763212C= | CA1737029669 | MET | c.2527C= (p.Pro843=) c.*132C= (n.*132C=) c.2581C= (p.Pro861=) c.367C= (p.Pro123=) c.1237C= (p.Pro413=) c.2584C= (p.Pro862=) n.2658C= | |
| 7 | g.116763212C>G | CA16612159 | MET | c.2527C>G (p.Pro843Ala) c.*132C>G (n.*132C>G) c.2581C>G (p.Pro861Ala) c.367C>G (p.Pro123Ala) c.1237C>G (p.Pro413Ala) c.2584C>G (p.Pro862Ala) n.2658C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116763212C>T | CA368983537 | MET | c.2527C>T (p.Pro843Ser) c.*132C>T (n.*132C>T) c.2581C>T (p.Pro861Ser) c.367C>T (p.Pro123Ser) c.1237C>T (p.Pro413Ser) c.2584C>T (p.Pro862Ser) n.2658C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116763213C>A | CA368983540 | MET | c.2528C>A (p.Pro843His) c.*133C>A (n.*133C>A) c.2582C>A (p.Pro861His) c.368C>A (p.Pro123His) c.1238C>A (p.Pro413His) c.2585C>A (p.Pro862His) n.2659C>A | |
| 7 | g.116763213C= | CA1737029676 | MET | c.2528C= (p.Pro843=) c.*133C= (n.*133C=) c.2582C= (p.Pro861=) c.368C= (p.Pro123=) c.1238C= (p.Pro413=) c.2585C= (p.Pro862=) n.2659C= | |
| 7 | g.116763213C>G | CA4448497 | MET | c.2528C>G (p.Pro843Arg) c.*133C>G (n.*133C>G) c.2582C>G (p.Pro861Arg) c.368C>G (p.Pro123Arg) c.1238C>G (p.Pro413Arg) c.2585C>G (p.Pro862Arg) n.2659C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116763213C>T | CA16612076 | MET | c.2528C>T (p.Pro843Leu) c.*133C>T (n.*133C>T) c.2582C>T (p.Pro861Leu) c.368C>T (p.Pro123Leu) c.1238C>T (p.Pro413Leu) c.2585C>T (p.Pro862Leu) n.2659C>T | ClinVar dbSNP |
| 7 | g.116763214T>A | CA457441509 | MET | c.2529T>A (p.Pro843=) c.*134T>A (n.*134T>A) c.2583T>A (p.Pro861=) c.369T>A (p.Pro123=) c.1239T>A (p.Pro413=) c.2586T>A (p.Pro862=) n.2660T>A | dbSNP |
| 7 | g.116763214T>C | CA457441511 | MET | c.2529T>C (p.Pro843=) c.*134T>C (n.*134T>C) c.2583T>C (p.Pro861=) c.369T>C (p.Pro123=) c.1239T>C (p.Pro413=) c.2586T>C (p.Pro862=) n.2660T>C | dbSNP |
| 7 | g.116763214T>G | CA457441513 | MET | c.2529T>G (p.Pro843=) c.*134T>G (n.*134T>G) c.2583T>G (p.Pro861=) c.369T>G (p.Pro123=) c.1239T>G (p.Pro413=) c.2586T>G (p.Pro862=) n.2660T>G | |
| 7 | g.116763215T>A | CA368983545 | MET | c.2530T>A (p.Phe844Ile) c.*135T>A (n.*135T>A) c.2584T>A (p.Phe862Ile) c.370T>A (p.Phe124Ile) c.1240T>A (p.Phe414Ile) c.2587T>A (p.Phe863Ile) n.2661T>A | |
| 7 | g.116763215T>C | CA368983544 | MET | c.2530T>C (p.Phe844Leu) c.*135T>C (n.*135T>C) c.2584T>C (p.Phe862Leu) c.370T>C (p.Phe124Leu) c.1240T>C (p.Phe414Leu) c.2587T>C (p.Phe863Leu) n.2661T>C | COSMIC |
| 7 | g.116763215T>G | CA368983542 | MET | c.2530T>G (p.Phe844Val) c.*135T>G (n.*135T>G) c.2584T>G (p.Phe862Val) c.370T>G (p.Phe124Val) c.1240T>G (p.Phe414Val) c.2587T>G (p.Phe863Val) n.2661T>G | |
| 7 | g.116763216T>A | CA368983546 | MET | c.2531T>A (p.Phe844Tyr) c.*136T>A (n.*136T>A) c.2585T>A (p.Phe862Tyr) c.371T>A (p.Phe124Tyr) c.1241T>A (p.Phe414Tyr) c.2588T>A (p.Phe863Tyr) n.2662T>A | dbSNP |
| 7 | g.116763216T>C | CA368983549 | MET | c.2531T>C (p.Phe844Ser) c.*136T>C (n.*136T>C) c.2585T>C (p.Phe862Ser) c.371T>C (p.Phe124Ser) c.1241T>C (p.Phe414Ser) c.2588T>C (p.Phe863Ser) n.2662T>C | |
| 7 | g.116763216T>G | CA368983548 | MET | c.2531T>G (p.Phe844Cys) c.*136T>G (n.*136T>G) c.2585T>G (p.Phe862Cys) c.371T>G (p.Phe124Cys) c.1241T>G (p.Phe414Cys) c.2588T>G (p.Phe863Cys) n.2662T>G | |
| 7 | g.116763217T>A | CA368983551 | MET | c.2532T>A (p.Phe844Leu) c.*137T>A (n.*137T>A) c.2586T>A (p.Phe862Leu) c.372T>A (p.Phe124Leu) c.1242T>A (p.Phe414Leu) c.2589T>A (p.Phe863Leu) n.2663T>A | |
| 7 | g.116763217T>C | CA457441525 | MET | c.2532T>C (p.Phe844=) c.*137T>C (n.*137T>C) c.2586T>C (p.Phe862=) c.372T>C (p.Phe124=) c.1242T>C (p.Phe414=) c.2589T>C (p.Phe863=) n.2663T>C | ClinVar dbSNP |
| 7 | g.116763217T>G | CA368983553 | MET | c.2532T>G (p.Phe844Leu) c.*137T>G (n.*137T>G) c.2586T>G (p.Phe862Leu) c.372T>G (p.Phe124Leu) c.1242T>G (p.Phe414Leu) c.2589T>G (p.Phe863Leu) n.2663T>G | |
| 7 | g.116763217T= | CA1737029684 | MET | c.2532T= (p.Phe844=) c.*137T= (n.*137T=) c.2586T= (p.Phe862=) c.372T= (p.Phe124=) c.1242T= (p.Phe414=) c.2589T= (p.Phe863=) n.2663T= | |
| 7 | g.116763218G>A | CA368983554 | MET | c.2533G>A (p.Glu845Lys) c.*138G>A (n.*138G>A) c.2587G>A (p.Glu863Lys) c.373G>A (p.Glu125Lys) c.1243G>A (p.Glu415Lys) c.2590G>A (p.Glu864Lys) n.2664G>A | dbSNP gnomAD v4 |
| 7 | g.116763218G>C | CA368983556 | MET | c.2533G>C (p.Glu845Gln) c.*138G>C (n.*138G>C) c.2587G>C (p.Glu863Gln) c.373G>C (p.Glu125Gln) c.1243G>C (p.Glu415Gln) c.2590G>C (p.Glu864Gln) n.2664G>C | ClinVar dbSNP |
| 7 | g.116763218G= | CA1737029686 | MET | c.2533G= (p.Glu845=) c.*138G= (n.*138G=) c.2587G= (p.Glu863=) c.373G= (p.Glu125=) c.1243G= (p.Glu415=) c.2590G= (p.Glu864=) n.2664G= | |
| 7 | g.116763218G>T | CA368983557 | MET | c.2533G>T (p.Glu845Ter) c.*138G>T (n.*138G>T) c.2587G>T (p.Glu863Ter) c.373G>T (p.Glu125Ter) c.1243G>T (p.Glu415Ter) c.2590G>T (p.Glu864Ter) n.2664G>T | |
| 7 | g.116763219A= | CA1737029691 | MET | c.2534A= (p.Glu845=) c.*139A= (n.*139A=) c.2588A= (p.Glu863=) c.374A= (p.Glu125=) c.1244A= (p.Glu415=) c.2591A= (p.Glu864=) n.2665A= | |
| 7 | g.116763219A>C | CA368983562 | MET | c.2534A>C (p.Glu845Ala) c.*139A>C (n.*139A>C) c.2588A>C (p.Glu863Ala) c.374A>C (p.Glu125Ala) c.1244A>C (p.Glu415Ala) c.2591A>C (p.Glu864Ala) n.2665A>C | |
| 7 | g.116763219A>G | CA368983561 | MET | c.2534A>G (p.Glu845Gly) c.*139A>G (n.*139A>G) c.2588A>G (p.Glu863Gly) c.374A>G (p.Glu125Gly) c.1244A>G (p.Glu415Gly) c.2591A>G (p.Glu864Gly) n.2665A>G | ClinVar dbSNP |
| 7 | g.116763219A>T | CA368983559 | MET | c.2534A>T (p.Glu845Val) c.*139A>T (n.*139A>T) c.2588A>T (p.Glu863Val) c.374A>T (p.Glu125Val) c.1244A>T (p.Glu415Val) c.2591A>T (p.Glu864Val) n.2665A>T | dbSNP |
| 7 | g.116763222del | CA2684591481 | MET | c.2537del (p.Lys846SerfsTer3) c.*142del (n.*142del) c.2591del (p.Lys864SerfsTer3) c.377del (p.Lys126SerfsTer3) c.1247del (p.Lys416SerfsTer3) c.2594del (p.Lys865SerfsTer3) n.2668del | gnomAD v4 |