| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7142965A>C | CA403662561 | INSR | c.2393T>G (p.Phe798Cys) c.2357T>G (p.Phe786Cys) n.76T>G c.2471T>G (p.Phe824Cys) c.2435T>G (p.Phe812Cys) | |
| 19 | g.7142965A>G | CA403662562 | INSR | c.2393T>C (p.Phe798Ser) c.2357T>C (p.Phe786Ser) n.76T>C c.2471T>C (p.Phe824Ser) c.2435T>C (p.Phe812Ser) | |
| 19 | g.7142965A>T | CA403662563 | INSR | c.2393T>A (p.Phe798Tyr) c.2357T>A (p.Phe786Tyr) n.76T>A c.2471T>A (p.Phe824Tyr) c.2435T>A (p.Phe812Tyr) | |
| 19 | g.7142966A>C | CA403662564 | INSR | c.2392T>G (p.Phe798Val) c.2356T>G (p.Phe786Val) n.75T>G c.2470T>G (p.Phe824Val) c.2434T>G (p.Phe812Val) | |
| 19 | g.7142966A>G | CA403662565 | INSR | c.2392T>C (p.Phe798Leu) c.2356T>C (p.Phe786Leu) n.75T>C c.2470T>C (p.Phe824Leu) c.2434T>C (p.Phe812Leu) | |
| 19 | g.7142966A>T | CA403662566 | INSR | c.2392T>A (p.Phe798Ile) c.2356T>A (p.Phe786Ile) n.75T>A c.2470T>A (p.Phe824Ile) c.2434T>A (p.Phe812Ile) | |
| 19 | g.7142967A>C | CA505400362 | INSR | c.2391T>G (p.Pro797=) c.2355T>G (p.Pro785=) n.74T>G c.2469T>G (p.Pro823=) c.2433T>G (p.Pro811=) | |
| 19 | g.7142967A>G | CA505400361 | INSR | c.2391T>C (p.Pro797=) c.2355T>C (p.Pro785=) n.74T>C c.2469T>C (p.Pro823=) c.2433T>C (p.Pro811=) | |
| 19 | g.7142967A>T | CA505400360 | INSR | c.2391T>A (p.Pro797=) c.2355T>A (p.Pro785=) n.74T>A c.2469T>A (p.Pro823=) c.2433T>A (p.Pro811=) | |
| 19 | g.7142968G>A | CA403662567 | INSR | c.2390C>T (p.Pro797Leu) c.2354C>T (p.Pro785Leu) n.73C>T c.2468C>T (p.Pro823Leu) c.2432C>T (p.Pro811Leu) | COSMIC COSMIC |
| 19 | g.7142968G>C | CA403662568 | INSR | c.2390C>G (p.Pro797Arg) c.2354C>G (p.Pro785Arg) n.73C>G c.2468C>G (p.Pro823Arg) c.2432C>G (p.Pro811Arg) | gnomAD v4 |
| 19 | g.7142968G>T | CA403662569 | INSR | c.2390C>A (p.Pro797His) c.2354C>A (p.Pro785His) n.73C>A c.2468C>A (p.Pro823His) c.2432C>A (p.Pro811His) | |
| 19 | g.7142969G>A | CA403662570 | INSR | c.2389C>T (p.Pro797Ser) c.2353C>T (p.Pro785Ser) n.72C>T c.2467C>T (p.Pro823Ser) c.2431C>T (p.Pro811Ser) | COSMIC COSMIC |
| 19 | g.7142969G>C | CA403662571 | INSR | c.2389C>G (p.Pro797Ala) c.2353C>G (p.Pro785Ala) n.72C>G c.2467C>G (p.Pro823Ala) c.2431C>G (p.Pro811Ala) | |
| 19 | g.7142969G>T | CA403662572 | INSR | c.2389C>A (p.Pro797Thr) c.2353C>A (p.Pro785Thr) n.72C>A c.2467C>A (p.Pro823Thr) c.2431C>A (p.Pro811Thr) | COSMIC COSMIC |
| 19 | g.7142970C>A | CA403662573 | INSR | c.2388G>T (p.Arg796Ser) c.2352G>T (p.Arg784Ser) n.71G>T c.2466G>T (p.Arg822Ser) c.2430G>T (p.Arg810Ser) | gnomAD v4 |
| 19 | g.7142970C= | CA2320776194 | INSR | c.2388G= (p.Arg796=) c.2352G= (p.Arg784=) n.71G= c.2466G= (p.Arg822=) c.2430G= (p.Arg810=) | |
| 19 | g.7142970C>G | CA9135556 | INSR | c.2388G>C (p.Arg796Ser) c.2352G>C (p.Arg784Ser) n.71G>C c.2466G>C (p.Arg822Ser) c.2430G>C (p.Arg810Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7142970C>T | CA505400363 | INSR | c.2388G>A (p.Arg796=) c.2352G>A (p.Arg784=) n.71G>A c.2466G>A (p.Arg822=) c.2430G>A (p.Arg810=) | |
| 19 | g.7142971C>A | CA403662574 | INSR | c.2387G>T (p.Arg796Met) c.2351G>T (p.Arg784Met) n.70G>T c.2465G>T (p.Arg822Met) c.2429G>T (p.Arg810Met) | COSMIC COSMIC |
| 19 | g.7142971C>G | CA403662575 | INSR | c.2387G>C (p.Arg796Thr) c.2351G>C (p.Arg784Thr) n.70G>C c.2465G>C (p.Arg822Thr) c.2429G>C (p.Arg810Thr) | |
| 19 | g.7142971C>T | CA403662576 | INSR | c.2387G>A (p.Arg796Lys) c.2351G>A (p.Arg784Lys) n.70G>A c.2465G>A (p.Arg822Lys) c.2429G>A (p.Arg810Lys) | gnomAD v4 |
| 19 | g.7142971_7142974dup | CA891862962 | INSR | c.2384_2387dup (p.Pro797GlnfsTer4) c.2348_2351dup (p.Pro785GlnfsTer4) n.67_70dup c.2462_2465dup (p.Pro823GlnfsTer4) c.2426_2429dup (p.Pro811GlnfsTer4) | ClinVar dbSNP |
| 19 | g.7142972T>A | CA304837688 | INSR | c.2386A>T (p.Arg796Trp) c.2350A>T (p.Arg784Trp) n.69A>T c.2464A>T (p.Arg822Trp) c.2428A>T (p.Arg810Trp) | dbSNP gnomAD v4 |
| 19 | g.7142972T>C | CA403662577 | INSR | c.2386A>G (p.Arg796Gly) c.2350A>G (p.Arg784Gly) n.69A>G c.2464A>G (p.Arg822Gly) c.2428A>G (p.Arg810Gly) | |
| 19 | g.7142972T>G | CA505400364 | INSR | c.2386A>C (p.Arg796=) c.2350A>C (p.Arg784=) n.69A>C c.2464A>C (p.Arg822=) c.2428A>C (p.Arg810=) | |
| 19 | g.7142972T= | CA2320776197 | INSR | c.2386A= (p.Arg796=) c.2350A= (p.Arg784=) n.69A= c.2464A= (p.Arg822=) c.2428A= (p.Arg810=) | |
| 19 | g.7142973G>A | CA505400365 | INSR | c.2385C>T (p.His795=) c.2349C>T (p.His783=) n.68C>T c.2463C>T (p.His821=) c.2427C>T (p.His809=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7142973G>C | CA403662578 | INSR | c.2385C>G (p.His795Gln) c.2349C>G (p.His783Gln) n.68C>G c.2463C>G (p.His821Gln) c.2427C>G (p.His809Gln) | |
| 19 | g.7142973G= | CA2320776199 | INSR | c.2385C= (p.His795=) c.2349C= (p.His783=) n.68C= c.2463C= (p.His821=) c.2427C= (p.His809=) | |
| 19 | g.7142973G>T | CA403662579 | INSR | c.2385C>A (p.His795Gln) c.2349C>A (p.His783Gln) n.68C>A c.2463C>A (p.His821Gln) c.2427C>A (p.His809Gln) | |
| 19 | g.7142974T>A | CA403662580 | INSR | c.2384A>T (p.His795Leu) c.2348A>T (p.His783Leu) n.67A>T c.2462A>T (p.His821Leu) c.2426A>T (p.His809Leu) | |
| 19 | g.7142974T>C | CA403662581 | INSR | c.2384A>G (p.His795Arg) c.2348A>G (p.His783Arg) n.67A>G c.2462A>G (p.His821Arg) c.2426A>G (p.His809Arg) | |
| 19 | g.7142974T>G | CA403662582 | INSR | c.2384A>C (p.His795Pro) c.2348A>C (p.His783Pro) n.67A>C c.2462A>C (p.His821Pro) c.2426A>C (p.His809Pro) | |
| 19 | g.7142975G>A | CA403662583 | INSR | c.2383C>T (p.His795Tyr) c.2347C>T (p.His783Tyr) n.66C>T c.2461C>T (p.His821Tyr) c.2425C>T (p.His809Tyr) | |
| 19 | g.7142975G>C | CA403662584 | INSR | c.2383C>G (p.His795Asp) c.2347C>G (p.His783Asp) n.66C>G c.2461C>G (p.His821Asp) c.2425C>G (p.His809Asp) | gnomAD v4 |
| 19 | g.7142975G>T | CA403662585 | INSR | c.2383C>A (p.His795Asn) c.2347C>A (p.His783Asn) n.66C>A c.2461C>A (p.His821Asn) c.2425C>A (p.His809Asn) | |
| 19 | g.7142976C>A | CA403662587 | INSR | c.2382G>T (p.Glu794Asp) c.2346G>T (p.Glu782Asp) n.65G>T c.2460G>T (p.Glu820Asp) c.2424G>T (p.Glu808Asp) | |
| 19 | g.7142976C>G | CA403662586 | INSR | c.2382G>C (p.Glu794Asp) c.2346G>C (p.Glu782Asp) n.65G>C c.2460G>C (p.Glu820Asp) c.2424G>C (p.Glu808Asp) | |
| 19 | g.7142976C>T | CA505400366 | INSR | c.2382G>A (p.Glu794=) c.2346G>A (p.Glu782=) n.65G>A c.2460G>A (p.Glu820=) c.2424G>A (p.Glu808=) | |
| 19 | g.7142977T>A | CA403662588 | INSR | c.2381A>T (p.Glu794Val) c.2345A>T (p.Glu782Val) n.64A>T c.2459A>T (p.Glu820Val) c.2423A>T (p.Glu808Val) | |
| 19 | g.7142977T>C | CA403662589 | INSR | c.2381A>G (p.Glu794Gly) c.2345A>G (p.Glu782Gly) n.64A>G c.2459A>G (p.Glu820Gly) c.2423A>G (p.Glu808Gly) | |
| 19 | g.7142977T>G | CA403662590 | INSR | c.2381A>C (p.Glu794Ala) c.2345A>C (p.Glu782Ala) n.64A>C c.2459A>C (p.Glu820Ala) c.2423A>C (p.Glu808Ala) | |
| 19 | g.7142978C>A | CA403662591 | INSR | c.2380G>T (p.Glu794Ter) c.2344G>T (p.Glu782Ter) n.63G>T c.2458G>T (p.Glu820Ter) c.2422G>T (p.Glu808Ter) | |
| 19 | g.7142978C= | CA2320776205 | INSR | c.2380G= (p.Glu794=) c.2344G= (p.Glu782=) n.63G= c.2458G= (p.Glu820=) c.2422G= (p.Glu808=) | |
| 19 | g.7142978C>G | CA9135558 | INSR | c.2380G>C (p.Glu794Gln) c.2344G>C (p.Glu782Gln) n.63G>C c.2458G>C (p.Glu820Gln) c.2422G>C (p.Glu808Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7142978C>T | CA9135557 | INSR | c.2380G>A (p.Glu794Lys) c.2344G>A (p.Glu782Lys) n.63G>A c.2458G>A (p.Glu820Lys) c.2422G>A (p.Glu808Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7142979C>A | CA403662592 | INSR | c.2379G>T (p.Glu793Asp) c.2343G>T (p.Glu781Asp) n.62G>T c.2457G>T (p.Glu819Asp) c.2421G>T (p.Glu807Asp) | |
| 19 | g.7142979C>G | CA403662593 | INSR | c.2379G>C (p.Glu793Asp) c.2343G>C (p.Glu781Asp) n.62G>C c.2457G>C (p.Glu819Asp) c.2421G>C (p.Glu807Asp) | |
| 19 | g.7142979C>T | CA505400367 | INSR | c.2379G>A (p.Glu793=) c.2343G>A (p.Glu781=) n.62G>A c.2457G>A (p.Glu819=) c.2421G>A (p.Glu807=) | gnomAD v4 |