Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.7142980T>A | CA403662594 | INSR | c.2378A>T (p.Glu793Val) c.2342A>T (p.Glu781Val) n.61A>T c.2456A>T (p.Glu819Val) c.2420A>T (p.Glu807Val) | |
19 | g.7142980T>C | CA9135559 | INSR | c.2378A>G (p.Glu793Gly) c.2342A>G (p.Glu781Gly) n.61A>G c.2456A>G (p.Glu819Gly) c.2420A>G (p.Glu807Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7142980T>G | CA403662595 | INSR | c.2378A>C (p.Glu793Ala) c.2342A>C (p.Glu781Ala) n.61A>C c.2456A>C (p.Glu819Ala) c.2420A>C (p.Glu807Ala) | |
19 | g.7142980T= | CA2320776206 | INSR | c.2378A= (p.Glu793=) c.2342A= (p.Glu781=) n.61A= c.2456A= (p.Glu819=) c.2420A= (p.Glu807=) | |
19 | g.7142981C>A | CA403662596 | INSR | c.2377G>T (p.Glu793Ter) c.2341G>T (p.Glu781Ter) n.60G>T c.2455G>T (p.Glu819Ter) c.2419G>T (p.Glu807Ter) | |
19 | g.7142981C>G | CA403662597 | INSR | c.2377G>C (p.Glu793Gln) c.2341G>C (p.Glu781Gln) n.60G>C c.2455G>C (p.Glu819Gln) c.2419G>C (p.Glu807Gln) | |
19 | g.7142981C>T | CA403662598 | INSR | c.2377G>A (p.Glu793Lys) c.2341G>A (p.Glu781Lys) n.60G>A c.2455G>A (p.Glu819Lys) c.2419G>A (p.Glu807Lys) | |
19 | g.7142982C>A | CA505400368 | INSR | c.2376G>T (p.Pro792=) c.2340G>T (p.Pro780=) n.59G>T c.2454G>T (p.Pro818=) c.2418G>T (p.Pro806=) | |
19 | g.7142982C= | CA2320776208 | INSR | c.2376G= (p.Pro792=) c.2340G= (p.Pro780=) n.59G= c.2454G= (p.Pro818=) c.2418G= (p.Pro806=) | |
19 | g.7142982C>G | CA505400369 | INSR | c.2376G>C (p.Pro792=) c.2340G>C (p.Pro780=) n.59G>C c.2454G>C (p.Pro818=) c.2418G>C (p.Pro806=) | |
19 | g.7142982C>T | CA9135560 | INSR | c.2376G>A (p.Pro792=) c.2340G>A (p.Pro780=) n.59G>A c.2454G>A (p.Pro818=) c.2418G>A (p.Pro806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7142983G>A | CA9135561 | INSR | c.2375C>T (p.Pro792Leu) c.2339C>T (p.Pro780Leu) n.58C>T c.2453C>T (p.Pro818Leu) c.2417C>T (p.Pro806Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7142983G>C | CA403662600 | INSR | c.2375C>G (p.Pro792Arg) c.2339C>G (p.Pro780Arg) n.58C>G c.2453C>G (p.Pro818Arg) c.2417C>G (p.Pro806Arg) | |
19 | g.7142983G= | CA2320776211 | INSR | c.2375C= (p.Pro792=) c.2339C= (p.Pro780=) n.58C= c.2453C= (p.Pro818=) c.2417C= (p.Pro806=) | |
19 | g.7142983G>T | CA403662599 | INSR | c.2375C>A (p.Pro792Gln) c.2339C>A (p.Pro780Gln) n.58C>A c.2453C>A (p.Pro818Gln) c.2417C>A (p.Pro806Gln) |