Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.20425524_20425575delinsCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTG | CA2396362485 | SCARF2 | c.2401_2452delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln801=) c.2413_2464delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln805=) c.2416_2467delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln806=) | |
22 | g.20425534_20425584del | CA638940757 | SCARF2 | c.2401_2451del (p.Gln801_Pro817del) c.2413_2463del (p.Gln805_Pro821del) c.2416_2466del (p.Gln806_Pro822del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425533_20425540del | CA2655397112 | SCARF2 | c.2441_2448del (p.Arg814ProfsTer9) c.2453_2460del (p.Arg818ProfsTer9) c.2456_2463del (p.Arg819ProfsTer9) | gnomAD v4 |
22 | g.20425533C>A | CA410738273 | SCARF2 | c.2443G>T (p.Ala815Ser) c.2455G>T (p.Ala819Ser) c.2458G>T (p.Ala820Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425533C= | CA2396362495 | SCARF2 | c.2443G= (p.Ala815=) c.2455G= (p.Ala819=) c.2458G= (p.Ala820=) | |
22 | g.20425533C>G | CA410738274 | SCARF2 | c.2443G>C (p.Ala815Pro) c.2455G>C (p.Ala819Pro) c.2458G>C (p.Ala820Pro) | |
22 | g.20425533C>T | CA410738276 | SCARF2 | c.2443G>A (p.Ala815Thr) c.2455G>A (p.Ala819Thr) c.2458G>A (p.Ala820Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425534G>A | CA513694378 | SCARF2 | c.2442C>T (p.Arg814=) c.2454C>T (p.Arg818=) c.2457C>T (p.Arg819=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425534G>C | CA513694381 | SCARF2 | c.2442C>G (p.Arg814=) c.2454C>G (p.Arg818=) c.2457C>G (p.Arg819=) | gnomAD v4 |
22 | g.20425534G= | CA2396362496 | SCARF2 | c.2442C= (p.Arg814=) c.2454C= (p.Arg818=) c.2457C= (p.Arg819=) | |
22 | g.20425534G>T | CA513694383 | SCARF2 | c.2442C>A (p.Arg814=) c.2454C>A (p.Arg818=) c.2457C>A (p.Arg819=) | dbSNP gnomAD v4 |
22 | g.20425541_20425544del | CA2655397115 | SCARF2 | c.2439_2442del (p.Ala815ProfsTer?) c.2451_2454del (p.Ala819ProfsTer?) c.2454_2457del (p.Ala820ProfsTer?) | gnomAD v4 |
22 | g.20425535C>A | CA410738278 | SCARF2 | c.2441G>T (p.Arg814Leu) c.2453G>T (p.Arg818Leu) c.2456G>T (p.Arg819Leu) | gnomAD v4 |
22 | g.20425535C= | CA2396362497 | SCARF2 | c.2441G= (p.Arg814=) c.2453G= (p.Arg818=) c.2456G= (p.Arg819=) | |
22 | g.20425535C>G | CA410738280 | SCARF2 | c.2441G>C (p.Arg814Pro) c.2453G>C (p.Arg818Pro) c.2456G>C (p.Arg819Pro) | gnomAD v4 |
22 | g.20425535C>T | CA410738281 | SCARF2 | c.2441G>A (p.Arg814His) c.2453G>A (p.Arg818His) c.2456G>A (p.Arg819His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425536G>A | CA410738283 | SCARF2 | c.2440C>T (p.Arg814Cys) c.2452C>T (p.Arg818Cys) c.2455C>T (p.Arg819Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425536G>C | CA410738284 | SCARF2 | c.2440C>G (p.Arg814Gly) c.2452C>G (p.Arg818Gly) c.2455C>G (p.Arg819Gly) | gnomAD v4 |
22 | g.20425536G= | CA2396362498 | SCARF2 | c.2440C= (p.Arg814=) c.2452C= (p.Arg818=) c.2455C= (p.Arg819=) | |
22 | g.20425536G>T | CA10112174 | SCARF2 | c.2440C>A (p.Arg814Ser) c.2452C>A (p.Arg818Ser) c.2455C>A (p.Arg819Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425537G>A | CA513694388 | SCARF2 | c.2439C>T (p.Ala813=) c.2451C>T (p.Ala817=) c.2454C>T (p.Ala818=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425537G>C | CA513694389 | SCARF2 | c.2439C>G (p.Ala813=) c.2451C>G (p.Ala817=) c.2454C>G (p.Ala818=) | gnomAD v4 |
22 | g.20425537G= | CA2396362499 | SCARF2 | c.2439C= (p.Ala813=) c.2451C= (p.Ala817=) c.2454C= (p.Ala818=) | |
22 | g.20425537G>T | CA513694387 | SCARF2 | c.2439C>A (p.Ala813=) c.2451C>A (p.Ala817=) c.2454C>A (p.Ala818=) | gnomAD v4 |
22 | g.20425538G>A | CA410738290 | SCARF2 | c.2438C>T (p.Ala813Val) c.2450C>T (p.Ala817Val) c.2453C>T (p.Ala818Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425538G>C | CA410738288 | SCARF2 | c.2438C>G (p.Ala813Gly) c.2450C>G (p.Ala817Gly) c.2453C>G (p.Ala818Gly) | |
22 | g.20425538G= | CA2396362500 | SCARF2 | c.2438C= (p.Ala813=) c.2450C= (p.Ala817=) c.2453C= (p.Ala818=) | |
22 | g.20425538G>T | CA410738286 | SCARF2 | c.2438C>A (p.Ala813Asp) c.2450C>A (p.Ala817Asp) c.2453C>A (p.Ala818Asp) | gnomAD v4 |
22 | g.20425539C>A | CA410738293 | SCARF2 | c.2437G>T (p.Ala813Ser) c.2449G>T (p.Ala817Ser) c.2452G>T (p.Ala818Ser) | gnomAD v4 |
22 | g.20425539C= | CA2396362501 | SCARF2 | c.2437G= (p.Ala813=) c.2449G= (p.Ala817=) c.2452G= (p.Ala818=) | |
22 | g.20425539C>G | CA410738296 | SCARF2 | c.2437G>C (p.Ala813Pro) c.2449G>C (p.Ala817Pro) c.2452G>C (p.Ala818Pro) | gnomAD v4 |
22 | g.20425539C>T | CA10112175 | SCARF2 | c.2437G>A (p.Ala813Thr) c.2449G>A (p.Ala817Thr) c.2452G>A (p.Ala818Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425540G>A | CA513694396 | SCARF2 | c.2436C>T (p.Pro812=) c.2448C>T (p.Pro816=) c.2451C>T (p.Pro817=) | gnomAD v4 |
22 | g.20425540G>C | CA513694401 | SCARF2 | c.2436C>G (p.Pro812=) c.2448C>G (p.Pro816=) c.2451C>G (p.Pro817=) | |
22 | g.20425540G>T | CA513694399 | SCARF2 | c.2436C>A (p.Pro812=) c.2448C>A (p.Pro816=) c.2451C>A (p.Pro817=) | gnomAD v4 |
22 | g.20425541G>A | CA410738298 | SCARF2 | c.2435C>T (p.Pro812Leu) c.2447C>T (p.Pro816Leu) c.2450C>T (p.Pro817Leu) | gnomAD v4 |
22 | g.20425541G>C | CA410738299 | SCARF2 | c.2435C>G (p.Pro812Arg) c.2447C>G (p.Pro816Arg) c.2450C>G (p.Pro817Arg) | |
22 | g.20425541G= | CA2396362502 | SCARF2 | c.2435C= (p.Pro812=) c.2447C= (p.Pro816=) c.2450C= (p.Pro817=) | |
22 | g.20425541G>T | CA10112176 | SCARF2 | c.2435C>A (p.Pro812His) c.2447C>A (p.Pro816His) c.2450C>A (p.Pro817His) | dbSNP ExAC gnomAD v4 |
22 | g.20425542G>A | CA410738302 | SCARF2 | c.2434C>T (p.Pro812Ser) c.2446C>T (p.Pro816Ser) c.2449C>T (p.Pro817Ser) | gnomAD v4 |
22 | g.20425542G>C | CA410738303 | SCARF2 | c.2434C>G (p.Pro812Ala) c.2446C>G (p.Pro816Ala) c.2449C>G (p.Pro817Ala) | |
22 | g.20425542G>T | CA410738305 | SCARF2 | c.2434C>A (p.Pro812Thr) c.2446C>A (p.Pro816Thr) c.2449C>A (p.Pro817Thr) | gnomAD v4 |
22 | g.20425543_20425544del | CA2842690067 | SCARF2 | c.2433_2434del (p.Pro812ArgfsTer13) c.2445_2446del (p.Pro816ArgfsTer13) c.2448_2449del (p.Pro817ArgfsTer13) | |
22 | g.20425543C>A | CA10112177 | SCARF2 | c.2433G>T (p.Ser811=) c.2445G>T (p.Ser815=) c.2448G>T (p.Ser816=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425543C= | CA2396362503 | SCARF2 | c.2433G= (p.Ser811=) c.2445G= (p.Ser815=) c.2448G= (p.Ser816=) | |
22 | g.20425543C>G | CA513694415 | SCARF2 | c.2433G>C (p.Ser811=) c.2445G>C (p.Ser815=) c.2448G>C (p.Ser816=) | gnomAD v4 |
22 | g.20425543C>T | CA513694411 | SCARF2 | c.2433G>A (p.Ser811=) c.2445G>A (p.Ser815=) c.2448G>A (p.Ser816=) | gnomAD v4 |
22 | g.20425544G>A | CA410738308 | SCARF2 | c.2432C>T (p.Ser811Leu) c.2444C>T (p.Ser815Leu) c.2447C>T (p.Ser816Leu) | gnomAD v4 |
22 | g.20425544G>C | CA410738310 | SCARF2 | c.2432C>G (p.Ser811Trp) c.2444C>G (p.Ser815Trp) c.2447C>G (p.Ser816Trp) | |
22 | g.20425544G>T | CA410738312 | SCARF2 | c.2432C>A (p.Ser811Ter) c.2444C>A (p.Ser815Ter) c.2447C>A (p.Ser816Ter) | gnomAD v4 |
22 | g.20425545A= | CA2396362504 | SCARF2 | c.2431T= (p.Ser811=) c.2443T= (p.Ser815=) c.2446T= (p.Ser816=) | |
22 | g.20425545A>C | CA410738314 | SCARF2 | c.2431T>G (p.Ser811Ala) c.2443T>G (p.Ser815Ala) c.2446T>G (p.Ser816Ala) | |
22 | g.20425545A>G | CA410738315 | SCARF2 | c.2431T>C (p.Ser811Pro) c.2443T>C (p.Ser815Pro) c.2446T>C (p.Ser816Pro) | dbSNP gnomAD v4 |
22 | g.20425545A>T | CA410738316 | SCARF2 | c.2431T>A (p.Ser811Thr) c.2443T>A (p.Ser815Thr) c.2446T>A (p.Ser816Thr) | |
22 | g.20425546G>A | CA513694428 | SCARF2 | c.2430C>T (p.Ala810=) c.2442C>T (p.Ala814=) c.2445C>T (p.Ala815=) | gnomAD v4 |
22 | g.20425546G>C | CA513694429 | SCARF2 | c.2430C>G (p.Ala810=) c.2442C>G (p.Ala814=) c.2445C>G (p.Ala815=) | gnomAD v4 |
22 | g.20425546G>T | CA513694427 | SCARF2 | c.2430C>A (p.Ala810=) c.2442C>A (p.Ala814=) c.2445C>A (p.Ala815=) | gnomAD v4 |
22 | g.20425547G>A | CA410738318 | SCARF2 | c.2429C>T (p.Ala810Val) c.2441C>T (p.Ala814Val) c.2444C>T (p.Ala815Val) | dbSNP gnomAD v4 |
22 | g.20425547G>C | CA410738322 | SCARF2 | c.2429C>G (p.Ala810Gly) c.2441C>G (p.Ala814Gly) c.2444C>G (p.Ala815Gly) | |
22 | g.20425547G= | CA2396362505 | SCARF2 | c.2429C= (p.Ala810=) c.2441C= (p.Ala814=) c.2444C= (p.Ala815=) | |
22 | g.20425547G>T | CA410738319 | SCARF2 | c.2429C>A (p.Ala810Asp) c.2441C>A (p.Ala814Asp) c.2444C>A (p.Ala815Asp) | gnomAD v4 |
22 | g.20425548C>A | CA410738324 | SCARF2 | c.2428G>T (p.Ala810Ser) c.2440G>T (p.Ala814Ser) c.2443G>T (p.Ala815Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425548C= | CA2396362506 | SCARF2 | c.2428G= (p.Ala810=) c.2440G= (p.Ala814=) c.2443G= (p.Ala815=) | |
22 | g.20425548C>G | CA410738326 | SCARF2 | c.2428G>C (p.Ala810Pro) c.2440G>C (p.Ala814Pro) c.2443G>C (p.Ala815Pro) | gnomAD v4 |
22 | g.20425548C>T | CA410738328 | SCARF2 | c.2428G>A (p.Ala810Thr) c.2440G>A (p.Ala814Thr) c.2443G>A (p.Ala815Thr) | gnomAD v4 |
22 | g.20425549T>A | CA513694441 | SCARF2 | c.2427A>T (p.Pro809=) c.2439A>T (p.Pro813=) c.2442A>T (p.Pro814=) | |
22 | g.20425549T>C | CA513694440 | SCARF2 | c.2427A>G (p.Pro809=) c.2439A>G (p.Pro813=) c.2442A>G (p.Pro814=) | gnomAD v4 |
22 | g.20425549T>G | CA513694439 | SCARF2 | c.2427A>C (p.Pro809=) c.2439A>C (p.Pro813=) c.2442A>C (p.Pro814=) | gnomAD v4 |
22 | g.20425550G>A | CA410738330 | SCARF2 | c.2426C>T (p.Pro809Leu) c.2438C>T (p.Pro813Leu) c.2441C>T (p.Pro814Leu) | gnomAD v4 |
22 | g.20425550G>C | CA410738332 | SCARF2 | c.2426C>G (p.Pro809Arg) c.2438C>G (p.Pro813Arg) c.2441C>G (p.Pro814Arg) | |
22 | g.20425550G>T | CA410738334 | SCARF2 | c.2426C>A (p.Pro809Gln) c.2438C>A (p.Pro813Gln) c.2441C>A (p.Pro814Gln) | gnomAD v4 |
22 | g.20425551G>A | CA10112178 | SCARF2 | c.2425C>T (p.Pro809Ser) c.2437C>T (p.Pro813Ser) c.2440C>T (p.Pro814Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425551G>C | CA410738338 | SCARF2 | c.2425C>G (p.Pro809Ala) c.2437C>G (p.Pro813Ala) c.2440C>G (p.Pro814Ala) | |
22 | g.20425551G= | CA2396362507 | SCARF2 | c.2425C= (p.Pro809=) c.2437C= (p.Pro813=) c.2440C= (p.Pro814=) | |
22 | g.20425551G>T | CA410738339 | SCARF2 | c.2425C>A (p.Pro809Thr) c.2437C>A (p.Pro813Thr) c.2440C>A (p.Pro814Thr) | gnomAD v4 |
22 | g.20425552del | CA2655397117 | SCARF2 | c.2424del (p.Pro809GlnfsTer?) c.2436del (p.Pro813GlnfsTer?) c.2439del (p.Pro814GlnfsTer?) | gnomAD v4 |
22 | g.20425552C>A | CA513694449 | SCARF2 | c.2424G>T (p.Pro808=) c.2436G>T (p.Pro812=) c.2439G>T (p.Pro813=) | dbSNP gnomAD v4 |
22 | g.20425552C= | CA2396362508 | SCARF2 | c.2424G= (p.Pro808=) c.2436G= (p.Pro812=) c.2439G= (p.Pro813=) | |
22 | g.20425552C>G | CA513694450 | SCARF2 | c.2424G>C (p.Pro808=) c.2436G>C (p.Pro812=) c.2439G>C (p.Pro813=) | gnomAD v4 |
22 | g.20425552C>T | CA10112179 | SCARF2 | c.2424G>A (p.Pro808=) c.2436G>A (p.Pro812=) c.2439G>A (p.Pro813=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425553G>A | CA410738345 | SCARF2 | c.2423C>T (p.Pro808Leu) c.2435C>T (p.Pro812Leu) c.2438C>T (p.Pro813Leu) | gnomAD v4 |
22 | g.20425553G>C | CA410738343 | SCARF2 | c.2423C>G (p.Pro808Arg) c.2435C>G (p.Pro812Arg) c.2438C>G (p.Pro813Arg) | |
22 | g.20425553G= | CA2396362509 | SCARF2 | c.2423C= (p.Pro808=) c.2435C= (p.Pro812=) c.2438C= (p.Pro813=) | |
22 | g.20425553G>T | CA10112180 | SCARF2 | c.2423C>A (p.Pro808Gln) c.2435C>A (p.Pro812Gln) c.2438C>A (p.Pro813Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425554G>A | CA410738347 | SCARF2 | c.2422C>T (p.Pro808Ser) c.2434C>T (p.Pro812Ser) c.2437C>T (p.Pro813Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425554G>C | CA410738349 | SCARF2 | c.2422C>G (p.Pro808Ala) c.2434C>G (p.Pro812Ala) c.2437C>G (p.Pro813Ala) | |
22 | g.20425554G= | CA2396362510 | SCARF2 | c.2422C= (p.Pro808=) c.2434C= (p.Pro812=) c.2437C= (p.Pro813=) | |
22 | g.20425554G>T | CA410738352 | SCARF2 | c.2422C>A (p.Pro808Thr) c.2434C>A (p.Pro812Thr) c.2437C>A (p.Pro813Thr) | gnomAD v4 |
22 | g.20425555C>A | CA513694458 | SCARF2 | c.2421G>T (p.Val807=) c.2433G>T (p.Val811=) c.2436G>T (p.Val812=) | gnomAD v4 |
22 | g.20425555C>G | CA513694455 | SCARF2 | c.2421G>C (p.Val807=) c.2433G>C (p.Val811=) c.2436G>C (p.Val812=) | |
22 | g.20425555C>T | CA513694457 | SCARF2 | c.2421G>A (p.Val807=) c.2433G>A (p.Val811=) c.2436G>A (p.Val812=) | gnomAD v4 |
22 | g.20425556A>C | CA410738355 | SCARF2 | c.2420T>G (p.Val807Gly) c.2432T>G (p.Val811Gly) c.2435T>G (p.Val812Gly) | |
22 | g.20425556A>G | CA410738357 | SCARF2 | c.2420T>C (p.Val807Ala) c.2432T>C (p.Val811Ala) c.2435T>C (p.Val812Ala) | gnomAD v4 |
22 | g.20425556A>T | CA410738358 | SCARF2 | c.2420T>A (p.Val807Glu) c.2432T>A (p.Val811Glu) c.2435T>A (p.Val812Glu) | gnomAD v4 |
22 | g.20425557C>A | CA410738361 | SCARF2 | c.2419G>T (p.Val807Leu) c.2431G>T (p.Val811Leu) c.2434G>T (p.Val812Leu) | gnomAD v4 |
22 | g.20425557C= | CA2396362511 | SCARF2 | c.2419G= (p.Val807=) c.2431G= (p.Val811=) c.2434G= (p.Val812=) | |
22 | g.20425557C>G | CA10112181 | SCARF2 | c.2419G>C (p.Val807Leu) c.2431G>C (p.Val811Leu) c.2434G>C (p.Val812Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425557C>T | CA410738363 | SCARF2 | c.2419G>A (p.Val807Met) c.2431G>A (p.Val811Met) c.2434G>A (p.Val812Met) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425558G>A | CA513694466 | SCARF2 | c.2418C>T (p.Ser806=) c.2430C>T (p.Ser810=) c.2433C>T (p.Ser811=) | dbSNP gnomAD v4 |
22 | g.20425558G>C | CA513694465 | SCARF2 | c.2418C>G (p.Ser806=) c.2430C>G (p.Ser810=) c.2433C>G (p.Ser811=) | gnomAD v4 |
22 | g.20425558G= | CA2396362512 | SCARF2 | c.2418C= (p.Ser806=) c.2430C= (p.Ser810=) c.2433C= (p.Ser811=) | |
22 | g.20425558G>T | CA513694468 | SCARF2 | c.2418C>A (p.Ser806=) c.2430C>A (p.Ser810=) c.2433C>A (p.Ser811=) | gnomAD v4 |
22 | g.20425559G>A | CA410738367 | SCARF2 | c.2417C>T (p.Ser806Phe) c.2429C>T (p.Ser810Phe) c.2432C>T (p.Ser811Phe) | gnomAD v4 |
22 | g.20425559G>C | CA410738368 | SCARF2 | c.2417C>G (p.Ser806Cys) c.2429C>G (p.Ser810Cys) c.2432C>G (p.Ser811Cys) | gnomAD v4 |
22 | g.20425559G= | CA2396362513 | SCARF2 | c.2417C= (p.Ser806=) c.2429C= (p.Ser810=) c.2432C= (p.Ser811=) | |
22 | g.20425559G>T | CA410738369 | SCARF2 | c.2417C>A (p.Ser806Tyr) c.2429C>A (p.Ser810Tyr) c.2432C>A (p.Ser811Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425560A>C | CA410738372 | SCARF2 | c.2416T>G (p.Ser806Ala) c.2428T>G (p.Ser810Ala) c.2431T>G (p.Ser811Ala) | |
22 | g.20425560A>G | CA410738371 | SCARF2 | c.2416T>C (p.Ser806Pro) c.2428T>C (p.Ser810Pro) c.2431T>C (p.Ser811Pro) | gnomAD v4 |
22 | g.20425560A>T | CA410738370 | SCARF2 | c.2416T>A (p.Ser806Thr) c.2428T>A (p.Ser810Thr) c.2431T>A (p.Ser811Thr) | gnomAD v4 |
22 | g.20425561G>A | CA513694480 | SCARF2 | c.2415C>T (p.Arg805=) c.2427C>T (p.Arg809=) c.2430C>T (p.Arg810=) | gnomAD v4 |
22 | g.20425561G>C | CA513694482 | SCARF2 | c.2415C>G (p.Arg805=) c.2427C>G (p.Arg809=) c.2430C>G (p.Arg810=) | |
22 | g.20425561G= | CA2396362514 | SCARF2 | c.2415C= (p.Arg805=) c.2427C= (p.Arg809=) c.2430C= (p.Arg810=) | |
22 | g.20425561G>T | CA513694478 | SCARF2 | c.2415C>A (p.Arg805=) c.2427C>A (p.Arg809=) c.2430C>A (p.Arg810=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425562C>A | CA410738373 | SCARF2 | c.2414G>T (p.Arg805Leu) c.2426G>T (p.Arg809Leu) c.2429G>T (p.Arg810Leu) | gnomAD v4 |
22 | g.20425562C>G | CA410738374 | SCARF2 | c.2414G>C (p.Arg805Pro) c.2426G>C (p.Arg809Pro) c.2429G>C (p.Arg810Pro) | gnomAD v4 |
22 | g.20425562C>T | CA410738375 | SCARF2 | c.2414G>A (p.Arg805His) c.2426G>A (p.Arg809His) c.2429G>A (p.Arg810His) | gnomAD v4 |
22 | g.20425563G>A | CA410738376 | SCARF2 | c.2413C>T (p.Arg805Cys) c.2425C>T (p.Arg809Cys) c.2428C>T (p.Arg810Cys) | gnomAD v4 |
22 | g.20425563G>C | CA410738377 | SCARF2 | c.2413C>G (p.Arg805Gly) c.2425C>G (p.Arg809Gly) c.2428C>G (p.Arg810Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425563G= | CA2396362515 | SCARF2 | c.2413C= (p.Arg805=) c.2425C= (p.Arg809=) c.2428C= (p.Arg810=) | |
22 | g.20425563G>T | CA410738378 | SCARF2 | c.2413C>A (p.Arg805Ser) c.2425C>A (p.Arg809Ser) c.2428C>A (p.Arg810Ser) | gnomAD v4 |
22 | g.20425564C>A | CA410738379 | SCARF2 | c.2412G>T (p.Lys804Asn) c.2424G>T (p.Lys808Asn) c.2427G>T (p.Lys809Asn) | gnomAD v4 |
22 | g.20425564C= | CA2396362516 | SCARF2 | c.2412G= (p.Lys804=) c.2424G= (p.Lys808=) c.2427G= (p.Lys809=) | |
22 | g.20425564C>G | CA410738380 | SCARF2 | c.2412G>C (p.Lys804Asn) c.2424G>C (p.Lys808Asn) c.2427G>C (p.Lys809Asn) | |
22 | g.20425564C>T | CA10112182 | SCARF2 | c.2412G>A (p.Lys804=) c.2424G>A (p.Lys808=) c.2427G>A (p.Lys809=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425565T>A | CA410738381 | SCARF2 | c.2411A>T (p.Lys804Met) c.2423A>T (p.Lys808Met) c.2426A>T (p.Lys809Met) | gnomAD v4 |
22 | g.20425565T>C | CA410738382 | SCARF2 | c.2411A>G (p.Lys804Arg) c.2423A>G (p.Lys808Arg) c.2426A>G (p.Lys809Arg) | dbSNP gnomAD v4 |
22 | g.20425565T>G | CA410738383 | SCARF2 | c.2411A>C (p.Lys804Thr) c.2423A>C (p.Lys808Thr) c.2426A>C (p.Lys809Thr) | dbSNP gnomAD v4 |
22 | g.20425566T>A | CA410738386 | SCARF2 | c.2410A>T (p.Lys804Ter) c.2422A>T (p.Lys808Ter) c.2425A>T (p.Lys809Ter) | gnomAD v4 |
22 | g.20425566T>C | CA410738385 | SCARF2 | c.2410A>G (p.Lys804Glu) c.2422A>G (p.Lys808Glu) c.2425A>G (p.Lys809Glu) | gnomAD v4 |
22 | g.20425566T>G | CA410738384 | SCARF2 | c.2410A>C (p.Lys804Gln) c.2422A>C (p.Lys808Gln) c.2425A>C (p.Lys809Gln) | |
22 | g.20425567G>A | CA513694497 | SCARF2 | c.2409C>T (p.Ala803=) c.2421C>T (p.Ala807=) c.2424C>T (p.Ala808=) | gnomAD v4 |
22 | g.20425567G>C | CA322182114 | SCARF2 | c.2409C>G (p.Ala803=) c.2421C>G (p.Ala807=) c.2424C>G (p.Ala808=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425567G= | CA2396362517 | SCARF2 | c.2409C= (p.Ala803=) c.2421C= (p.Ala807=) c.2424C= (p.Ala808=) | |
22 | g.20425567G>T | CA513694495 | SCARF2 | c.2409C>A (p.Ala803=) c.2421C>A (p.Ala807=) c.2424C>A (p.Ala808=) | gnomAD v4 |
22 | g.20425568G>A | CA410738387 | SCARF2 | c.2408C>T (p.Ala803Val) c.2420C>T (p.Ala807Val) c.2423C>T (p.Ala808Val) | gnomAD v4 |
22 | g.20425568G>C | CA410738389 | SCARF2 | c.2408C>G (p.Ala803Gly) c.2420C>G (p.Ala807Gly) c.2423C>G (p.Ala808Gly) | dbSNP gnomAD v4 |
22 | g.20425568G= | CA2396362518 | SCARF2 | c.2408C= (p.Ala803=) c.2420C= (p.Ala807=) c.2423C= (p.Ala808=) | |
22 | g.20425568G>T | CA410738388 | SCARF2 | c.2408C>A (p.Ala803Asp) c.2420C>A (p.Ala807Asp) c.2423C>A (p.Ala808Asp) | gnomAD v4 |
22 | g.20425569C>A | CA410738390 | SCARF2 | c.2407G>T (p.Ala803Ser) c.2419G>T (p.Ala807Ser) c.2422G>T (p.Ala808Ser) | gnomAD v4 |
22 | g.20425569C>G | CA410738392 | SCARF2 | c.2407G>C (p.Ala803Pro) c.2419G>C (p.Ala807Pro) c.2422G>C (p.Ala808Pro) | |
22 | g.20425569C>T | CA410738391 | SCARF2 | c.2407G>A (p.Ala803Thr) c.2419G>A (p.Ala807Thr) c.2422G>A (p.Ala808Thr) | gnomAD v4 |
22 | g.20425570T>A | CA410738393 | SCARF2 | c.2406A>T (p.Lys802Asn) c.2418A>T (p.Lys806Asn) c.2421A>T (p.Lys807Asn) | |
22 | g.20425570T>C | CA513694511 | SCARF2 | c.2406A>G (p.Lys802=) c.2418A>G (p.Lys806=) c.2421A>G (p.Lys807=) | gnomAD v4 |
22 | g.20425570T>G | CA410738394 | SCARF2 | c.2406A>C (p.Lys802Asn) c.2418A>C (p.Lys806Asn) c.2421A>C (p.Lys807Asn) | |
22 | g.20425572del | CA2655397118 | SCARF2 | c.2406del (p.Ala803ProfsTer?) c.2418del (p.Ala807ProfsTer?) c.2421del (p.Ala808ProfsTer?) | gnomAD v4 |
22 | g.20425571T>A | CA410738395 | SCARF2 | c.2405A>T (p.Lys802Ile) c.2417A>T (p.Lys806Ile) c.2420A>T (p.Lys807Ile) | |
22 | g.20425571T>C | CA410738396 | SCARF2 | c.2405A>G (p.Lys802Arg) c.2417A>G (p.Lys806Arg) c.2420A>G (p.Lys807Arg) | gnomAD v4 |
22 | g.20425571T>G | CA410738397 | SCARF2 | c.2405A>C (p.Lys802Thr) c.2417A>C (p.Lys806Thr) c.2420A>C (p.Lys807Thr) | |
22 | g.20425572T>A | CA410738398 | SCARF2 | c.2404A>T (p.Lys802Ter) c.2416A>T (p.Lys806Ter) c.2419A>T (p.Lys807Ter) | gnomAD v4 |
22 | g.20425572T>C | CA410738399 | SCARF2 | c.2404A>G (p.Lys802Glu) c.2416A>G (p.Lys806Glu) c.2419A>G (p.Lys807Glu) | gnomAD v4 |
22 | g.20425572T>G | CA410738400 | SCARF2 | c.2404A>C (p.Lys802Gln) c.2416A>C (p.Lys806Gln) c.2419A>C (p.Lys807Gln) | |
22 | g.20425573C>A | CA410738401 | SCARF2 | c.2403G>T (p.Gln801His) c.2415G>T (p.Gln805His) c.2418G>T (p.Gln806His) | gnomAD v4 |
22 | g.20425573C>G | CA410738402 | SCARF2 | c.2403G>C (p.Gln801His) c.2415G>C (p.Gln805His) c.2418G>C (p.Gln806His) | gnomAD v4 |
22 | g.20425573C>T | CA513694518 | SCARF2 | c.2403G>A (p.Gln801=) c.2415G>A (p.Gln805=) c.2418G>A (p.Gln806=) | gnomAD v4 |
22 | g.20425574T>A | CA410738403 | SCARF2 | c.2402A>T (p.Gln801Leu) c.2414A>T (p.Gln805Leu) c.2417A>T (p.Gln806Leu) | gnomAD v4 |
22 | g.20425574T>C | CA410738404 | SCARF2 | c.2402A>G (p.Gln801Arg) c.2414A>G (p.Gln805Arg) c.2417A>G (p.Gln806Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425574T>G | CA410738405 | SCARF2 | c.2402A>C (p.Gln801Pro) c.2414A>C (p.Gln805Pro) c.2417A>C (p.Gln806Pro) | gnomAD v4 |
22 | g.20425574T= | CA2396362519 | SCARF2 | c.2402A= (p.Gln801=) c.2414A= (p.Gln805=) c.2417A= (p.Gln806=) | |
22 | g.20425575G>A | CA410738406 | SCARF2 | c.2401C>T (p.Gln801Ter) c.2413C>T (p.Gln805Ter) c.2416C>T (p.Gln806Ter) | gnomAD v4 |
22 | g.20425575G>C | CA410738408 | SCARF2 | c.2401C>G (p.Gln801Glu) c.2413C>G (p.Gln805Glu) c.2416C>G (p.Gln806Glu) | dbSNP gnomAD v4 |
22 | g.20425575G= | CA2396362520 | SCARF2 | c.2401C= (p.Gln801=) c.2413C= (p.Gln805=) c.2416C= (p.Gln806=) | |
22 | g.20425575G>T | CA410738407 | SCARF2 | c.2401C>A (p.Gln801Lys) c.2413C>A (p.Gln805Lys) c.2416C>A (p.Gln806Lys) | gnomAD v4 |
22 | g.20425576T>A | CA513694527 | SCARF2 | c.2400A>T (p.Pro800=) c.2412A>T (p.Pro804=) c.2415A>T (p.Pro805=) | gnomAD v4 |
22 | g.20425576T>C | CA513694522 | SCARF2 | c.2400A>G (p.Pro800=) c.2412A>G (p.Pro804=) c.2415A>G (p.Pro805=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425576T>G | CA513694521 | SCARF2 | c.2400A>C (p.Pro800=) c.2412A>C (p.Pro804=) c.2415A>C (p.Pro805=) | |
22 | g.20425576T= | CA2396362521 | SCARF2 | c.2400A= (p.Pro800=) c.2412A= (p.Pro804=) c.2415A= (p.Pro805=) | |
22 | g.20425577G>A | CA410738409 | SCARF2 | c.2399C>T (p.Pro800Leu) c.2411C>T (p.Pro804Leu) c.2414C>T (p.Pro805Leu) | gnomAD v4 |
22 | g.20425577G>C | CA410738410 | SCARF2 | c.2399C>G (p.Pro800Arg) c.2411C>G (p.Pro804Arg) c.2414C>G (p.Pro805Arg) | dbSNP |
22 | g.20425577G= | CA2396362522 | SCARF2 | c.2399C= (p.Pro800=) c.2411C= (p.Pro804=) c.2414C= (p.Pro805=) | |
22 | g.20425577G>T | CA410738411 | SCARF2 | c.2399C>A (p.Pro800Gln) c.2411C>A (p.Pro804Gln) c.2414C>A (p.Pro805Gln) | gnomAD v4 |
22 | g.20425581dup | CA2655397120 | SCARF2 | c.2399dup (p.Gln801ThrfsTer25) c.2411dup (p.Gln805ThrfsTer25) c.2414dup (p.Gln806ThrfsTer25) | gnomAD v4 |
22 | g.20425581del | CA2655397121 | SCARF2 | c.2399del (p.Pro800HisfsTer?) c.2411del (p.Pro804HisfsTer?) c.2414del (p.Pro805HisfsTer?) | gnomAD v4 |
22 | g.20425578G>A | CA410738412 | SCARF2 | c.2398C>T (p.Pro800Ser) c.2410C>T (p.Pro804Ser) c.2413C>T (p.Pro805Ser) | gnomAD v4 |
22 | g.20425578G>C | CA410738413 | SCARF2 | c.2398C>G (p.Pro800Ala) c.2410C>G (p.Pro804Ala) c.2413C>G (p.Pro805Ala) | |
22 | g.20425578G>T | CA410738414 | SCARF2 | c.2398C>A (p.Pro800Thr) c.2410C>A (p.Pro804Thr) c.2413C>A (p.Pro805Thr) | gnomAD v4 |
22 | g.20425579G>A | CA513694532 | SCARF2 | c.2397C>T (p.Pro799=) c.2409C>T (p.Pro803=) c.2412C>T (p.Pro804=) | gnomAD v4 |
22 | g.20425579G>C | CA513694530 | SCARF2 | c.2397C>G (p.Pro799=) c.2409C>G (p.Pro803=) c.2412C>G (p.Pro804=) | |
22 | g.20425579G>T | CA513694531 | SCARF2 | c.2397C>A (p.Pro799=) c.2409C>A (p.Pro803=) c.2412C>A (p.Pro804=) | gnomAD v4 |
22 | g.20425580G>A | CA410738415 | SCARF2 | c.2396C>T (p.Pro799Leu) c.2408C>T (p.Pro803Leu) c.2411C>T (p.Pro804Leu) | gnomAD v4 |
22 | g.20425580G>C | CA410738416 | SCARF2 | c.2396C>G (p.Pro799Arg) c.2408C>G (p.Pro803Arg) c.2411C>G (p.Pro804Arg) | gnomAD v4 |
22 | g.20425580G>T | CA410738417 | SCARF2 | c.2396C>A (p.Pro799His) c.2408C>A (p.Pro803His) c.2411C>A (p.Pro804His) | gnomAD v4 |
22 | g.20425581G>A | CA410738420 | SCARF2 | c.2395C>T (p.Pro799Ser) c.2407C>T (p.Pro803Ser) c.2410C>T (p.Pro804Ser) | gnomAD v4 |
22 | g.20425581G>C | CA410738419 | SCARF2 | c.2395C>G (p.Pro799Ala) c.2407C>G (p.Pro803Ala) c.2410C>G (p.Pro804Ala) | gnomAD v4 |
22 | g.20425581G>T | CA410738418 | SCARF2 | c.2395C>A (p.Pro799Thr) c.2407C>A (p.Pro803Thr) c.2410C>A (p.Pro804Thr) | gnomAD v4 |
22 | g.20425582del | CA2655397123 | SCARF2 | c.2394del (p.Pro800HisfsTer?) c.2406del (p.Pro804HisfsTer?) c.2409del (p.Pro805HisfsTer?) | gnomAD v4 |
22 | g.20425582C>A | CA513694542 | SCARF2 | c.2394G>T (p.Ala798=) c.2406G>T (p.Ala802=) c.2409G>T (p.Ala803=) | gnomAD v4 |
22 | g.20425582C= | CA2396362523 | SCARF2 | c.2394G= (p.Ala798=) c.2406G= (p.Ala802=) c.2409G= (p.Ala803=) | |
22 | g.20425582C>G | CA513694543 | SCARF2 | c.2394G>C (p.Ala798=) c.2406G>C (p.Ala802=) c.2409G>C (p.Ala803=) | gnomAD v4 |
22 | g.20425582C>T | CA513694544 | SCARF2 | c.2394G>A (p.Ala798=) c.2406G>A (p.Ala802=) c.2409G>A (p.Ala803=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425583G>A | CA410738421 | SCARF2 | c.2393C>T (p.Ala798Val) c.2405C>T (p.Ala802Val) c.2408C>T (p.Ala803Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425583G>C | CA410738422 | SCARF2 | c.2393C>G (p.Ala798Gly) c.2405C>G (p.Ala802Gly) c.2408C>G (p.Ala803Gly) | gnomAD v4 |
22 | g.20425583G= | CA2396362524 | SCARF2 | c.2393C= (p.Ala798=) c.2405C= (p.Ala802=) c.2408C= (p.Ala803=) | |
22 | g.20425583G>T | CA10112183 | SCARF2 | c.2393C>A (p.Ala798Glu) c.2405C>A (p.Ala802Glu) c.2408C>A (p.Ala803Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425584C>A | CA410738423 | SCARF2 | c.2392G>T (p.Ala798Ser) c.2404G>T (p.Ala802Ser) c.2407G>T (p.Ala803Ser) | gnomAD v4 |
22 | g.20425584C= | CA2396362525 | SCARF2 | c.2392G= (p.Ala798=) c.2404G= (p.Ala802=) c.2407G= (p.Ala803=) | |
22 | g.20425584C>G | CA410738424 | SCARF2 | c.2392G>C (p.Ala798Pro) c.2404G>C (p.Ala802Pro) c.2407G>C (p.Ala803Pro) | gnomAD v4 |
22 | g.20425584C>T | CA322182124 | SCARF2 | c.2392G>A (p.Ala798Thr) c.2404G>A (p.Ala802Thr) c.2407G>A (p.Ala803Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425585C>A | CA513694545 | SCARF2 | c.2391G>T (p.Pro797=) c.2403G>T (p.Pro801=) c.2406G>T (p.Pro802=) | gnomAD v4 |
22 | g.20425585C>G | CA513694548 | SCARF2 | c.2391G>C (p.Pro797=) c.2403G>C (p.Pro801=) c.2406G>C (p.Pro802=) | |
22 | g.20425585C>T | CA513694547 | SCARF2 | c.2391G>A (p.Pro797=) c.2403G>A (p.Pro801=) c.2406G>A (p.Pro802=) | gnomAD v4 |
22 | g.20425586G>A | CA410738427 | SCARF2 | c.2390C>T (p.Pro797Leu) c.2402C>T (p.Pro801Leu) c.2405C>T (p.Pro802Leu) | gnomAD v4 |
22 | g.20425586G>C | CA410738425 | SCARF2 | c.2390C>G (p.Pro797Arg) c.2402C>G (p.Pro801Arg) c.2405C>G (p.Pro802Arg) | |
22 | g.20425586G>T | CA410738426 | SCARF2 | c.2390C>A (p.Pro797Gln) c.2402C>A (p.Pro801Gln) c.2405C>A (p.Pro802Gln) | gnomAD v4 |
22 | g.20425587G>A | CA410738428 | SCARF2 | c.2389C>T (p.Pro797Ser) c.2401C>T (p.Pro801Ser) c.2404C>T (p.Pro802Ser) | gnomAD v4 |
22 | g.20425587G>C | CA410738429 | SCARF2 | c.2389C>G (p.Pro797Ala) c.2401C>G (p.Pro801Ala) c.2404C>G (p.Pro802Ala) | gnomAD v4 |
22 | g.20425587G>T | CA410738430 | SCARF2 | c.2389C>A (p.Pro797Thr) c.2401C>A (p.Pro801Thr) c.2404C>A (p.Pro802Thr) | gnomAD v4 |
22 | g.20425588C>A | CA410738431 | SCARF2 | c.2388G>T (p.Lys796Asn) c.2400G>T (p.Lys800Asn) c.2403G>T (p.Lys801Asn) | gnomAD v4 |
22 | g.20425588C>G | CA410738432 | SCARF2 | c.2388G>C (p.Lys796Asn) c.2400G>C (p.Lys800Asn) c.2403G>C (p.Lys801Asn) | gnomAD v4 |
22 | g.20425588C>T | CA513694566 | SCARF2 | c.2388G>A (p.Lys796=) c.2400G>A (p.Lys800=) c.2403G>A (p.Lys801=) | gnomAD v4 |
22 | g.20425588_20425589delinsCT | CA2396362526 | SCARF2 | c.2387_2388delinsAG (p.Lys796=) c.2399_2400delinsAG (p.Lys800=) c.2402_2403delinsAG (p.Lys801=) | |
22 | g.20425589T>A | CA410738433 | SCARF2 | c.2387A>T (p.Lys796Met) c.2399A>T (p.Lys800Met) c.2402A>T (p.Lys801Met) | gnomAD v4 |
22 | g.20425589T>C | CA410738435 | SCARF2 | c.2387A>G (p.Lys796Arg) c.2399A>G (p.Lys800Arg) c.2402A>G (p.Lys801Arg) | gnomAD v4 |
22 | g.20425589T>G | CA410738434 | SCARF2 | c.2387A>C (p.Lys796Thr) c.2399A>C (p.Lys800Thr) c.2402A>C (p.Lys801Thr) | gnomAD v4 |
22 | g.20425592dup | CA2655397124 | SCARF2 | c.2387dup (p.Pro797AlafsTer29) c.2399dup (p.Pro801AlafsTer29) c.2402dup (p.Pro802AlafsTer29) | gnomAD v4 |
22 | g.20425592del | CA638940760 | SCARF2 | c.2387del (p.Lys796SerfsTer?) c.2399del (p.Lys800SerfsTer?) c.2402del (p.Lys801SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425590T>A | CA410738436 | SCARF2 | c.2386A>T (p.Lys796Ter) c.2398A>T (p.Lys800Ter) c.2401A>T (p.Lys801Ter) | gnomAD v4 |
22 | g.20425590T>C | CA410738437 | SCARF2 | c.2386A>G (p.Lys796Glu) c.2398A>G (p.Lys800Glu) c.2401A>G (p.Lys801Glu) | gnomAD v4 |
22 | g.20425590T>G | CA410738438 | SCARF2 | c.2386A>C (p.Lys796Gln) c.2398A>C (p.Lys800Gln) c.2401A>C (p.Lys801Gln) | |
22 | g.20425591T>A | CA410738439 | SCARF2 | c.2385A>T (p.Glu795Asp) c.2397A>T (p.Glu799Asp) c.2400A>T (p.Glu800Asp) | |
22 | g.20425591T>C | CA513694573 | SCARF2 | c.2385A>G (p.Glu795=) c.2397A>G (p.Glu799=) c.2400A>G (p.Glu800=) | gnomAD v4 |
22 | g.20425591T>G | CA410738440 | SCARF2 | c.2385A>C (p.Glu795Asp) c.2397A>C (p.Glu799Asp) c.2400A>C (p.Glu800Asp) | |
22 | g.20425592T>A | CA410738441 | SCARF2 | c.2384A>T (p.Glu795Val) c.2396A>T (p.Glu799Val) c.2399A>T (p.Glu800Val) | gnomAD v4 |
22 | g.20425592T>C | CA410738442 | SCARF2 | c.2384A>G (p.Glu795Gly) c.2396A>G (p.Glu799Gly) c.2399A>G (p.Glu800Gly) | gnomAD v4 |
22 | g.20425592T>G | CA410738443 | SCARF2 | c.2384A>C (p.Glu795Ala) c.2396A>C (p.Glu799Ala) c.2399A>C (p.Glu800Ala) | |
22 | g.20425592_20425600delinsTCCCTGGGG | CA2396362527 | SCARF2 | c.2376_2384delinsCCCCAGGGA (p.Gly792=) c.2388_2396delinsCCCCAGGGA (p.Gly796=) c.2391_2399delinsCCCCAGGGA (p.Gly797=) | |
22 | g.20425593C>A | CA410738444 | SCARF2 | c.2383G>T (p.Glu795Ter) c.2395G>T (p.Glu799Ter) c.2398G>T (p.Glu800Ter) | gnomAD v4 |
22 | g.20425593C= | CA2396362528 | SCARF2 | c.2383G= (p.Glu795=) c.2395G= (p.Glu799=) c.2398G= (p.Glu800=) | |
22 | g.20425593C>G | CA410738445 | SCARF2 | c.2383G>C (p.Glu795Gln) c.2395G>C (p.Glu799Gln) c.2398G>C (p.Glu800Gln) | |
22 | g.20425593C>T | CA410738446 | SCARF2 | c.2383G>A (p.Glu795Lys) c.2395G>A (p.Glu799Lys) c.2398G>A (p.Glu800Lys) | dbSNP gnomAD v4 |
22 | g.20425595dup | CA2655397126 | SCARF2 | c.2383dup (p.Glu795GlyfsTer?) c.2395dup (p.Glu799GlyfsTer?) c.2398dup (p.Glu800GlyfsTer?) | gnomAD v4 |
22 | g.20425595del | CA2655397127 | SCARF2 | c.2383del (p.Glu795LysfsTer?) c.2395del (p.Glu799LysfsTer?) c.2398del (p.Glu800LysfsTer?) | gnomAD v4 |
22 | g.20425598_20425605del | CA751516750 | SCARF2 | c.2376_2383del (p.Pro793LysfsTer?) c.2388_2395del (p.Pro797LysfsTer?) c.2391_2398del (p.Pro798LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425594C>A | CA410738447 | SCARF2 | c.2382G>T (p.Arg794Ser) c.2394G>T (p.Arg798Ser) c.2397G>T (p.Arg799Ser) | dbSNP gnomAD v4 |
22 | g.20425594C= | CA2396362529 | SCARF2 | c.2382G= (p.Arg794=) c.2394G= (p.Arg798=) c.2397G= (p.Arg799=) | |
22 | g.20425594C>G | CA410738448 | SCARF2 | c.2382G>C (p.Arg794Ser) c.2394G>C (p.Arg798Ser) c.2397G>C (p.Arg799Ser) | |
22 | g.20425594C>T | CA513694579 | SCARF2 | c.2382G>A (p.Arg794=) c.2394G>A (p.Arg798=) c.2397G>A (p.Arg799=) | gnomAD v4 |
22 | g.20425595C>A | CA410738449 | SCARF2 | c.2381G>T (p.Arg794Met) c.2393G>T (p.Arg798Met) c.2396G>T (p.Arg799Met) | gnomAD v4 |
22 | g.20425595C= | CA2396362530 | SCARF2 | c.2381G= (p.Arg794=) c.2393G= (p.Arg798=) c.2396G= (p.Arg799=) | |
22 | g.20425595C>G | CA410738451 | SCARF2 | c.2381G>C (p.Arg794Thr) c.2393G>C (p.Arg798Thr) c.2396G>C (p.Arg799Thr) | |
22 | g.20425595C>T | CA410738450 | SCARF2 | c.2381G>A (p.Arg794Lys) c.2393G>A (p.Arg798Lys) c.2396G>A (p.Arg799Lys) | dbSNP gnomAD v4 |
22 | g.20425596T>A | CA410738452 | SCARF2 | c.2380A>T (p.Arg794Trp) c.2392A>T (p.Arg798Trp) c.2395A>T (p.Arg799Trp) | gnomAD v4 |
22 | g.20425596T>C | CA410738453 | SCARF2 | c.2380A>G (p.Arg794Gly) c.2392A>G (p.Arg798Gly) c.2395A>G (p.Arg799Gly) | gnomAD v4 |
22 | g.20425596T>G | CA513694584 | SCARF2 | c.2380A>C (p.Arg794=) c.2392A>C (p.Arg798=) c.2395A>C (p.Arg799=) | gnomAD v4 |
22 | g.20425597G>A | CA322182130 | SCARF2 | c.2379C>T (p.Pro793=) c.2391C>T (p.Pro797=) c.2394C>T (p.Pro798=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425597G>C | CA513694589 | SCARF2 | c.2379C>G (p.Pro793=) c.2391C>G (p.Pro797=) c.2394C>G (p.Pro798=) | |
22 | g.20425597G= | CA2396362531 | SCARF2 | c.2379C= (p.Pro793=) c.2391C= (p.Pro797=) c.2394C= (p.Pro798=) | |
22 | g.20425597G>T | CA513694588 | SCARF2 | c.2379C>A (p.Pro793=) c.2391C>A (p.Pro797=) c.2394C>A (p.Pro798=) | gnomAD v4 |
22 | g.20425600dup | CA2818417614 | SCARF2 | c.2379dup (p.Arg794GlnfsTer?) c.2391dup (p.Arg798GlnfsTer?) c.2394dup (p.Arg799GlnfsTer?) | |
22 | g.20425600del | CA2655397128 | SCARF2 | c.2379del (p.Arg794GlyfsTer?) c.2391del (p.Arg798GlyfsTer?) c.2394del (p.Arg799GlyfsTer?) | gnomAD v4 |
22 | g.20425599_20425600del | CA2655397129 | SCARF2 | c.2378_2379del (p.Pro793GlnfsTer?) c.2390_2391del (p.Pro797GlnfsTer?) c.2393_2394del (p.Pro798GlnfsTer?) | gnomAD v4 |
22 | g.20425598G>A | CA410738454 | SCARF2 | c.2378C>T (p.Pro793Leu) c.2390C>T (p.Pro797Leu) c.2393C>T (p.Pro798Leu) | gnomAD v4 |
22 | g.20425598G>C | CA410738455 | SCARF2 | c.2378C>G (p.Pro793Arg) c.2390C>G (p.Pro797Arg) c.2393C>G (p.Pro798Arg) | gnomAD v4 |
22 | g.20425598G= | CA2396362532 | SCARF2 | c.2378C= (p.Pro793=) c.2390C= (p.Pro797=) c.2393C= (p.Pro798=) | |
22 | g.20425598G>T | CA410738456 | SCARF2 | c.2378C>A (p.Pro793His) c.2390C>A (p.Pro797His) c.2393C>A (p.Pro798His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425599G>A | CA410738457 | SCARF2 | c.2377C>T (p.Pro793Ser) c.2389C>T (p.Pro797Ser) c.2392C>T (p.Pro798Ser) | gnomAD v4 |
22 | g.20425599G>C | CA410738458 | SCARF2 | c.2377C>G (p.Pro793Ala) c.2389C>G (p.Pro797Ala) c.2392C>G (p.Pro798Ala) | |
22 | g.20425599G>T | CA410738459 | SCARF2 | c.2377C>A (p.Pro793Thr) c.2389C>A (p.Pro797Thr) c.2392C>A (p.Pro798Thr) | gnomAD v4 |
22 | g.20425600G>A | CA513694599 | SCARF2 | c.2376C>T (p.Gly792=) c.2388C>T (p.Gly796=) c.2391C>T (p.Gly797=) | dbSNP gnomAD v4 |
22 | g.20425600G>C | CA513694597 | SCARF2 | c.2376C>G (p.Gly792=) c.2388C>G (p.Gly796=) c.2391C>G (p.Gly797=) | gnomAD v4 |
22 | g.20425600G= | CA2396362533 | SCARF2 | c.2376C= (p.Gly792=) c.2388C= (p.Gly796=) c.2391C= (p.Gly797=) | |
22 | g.20425600G>T | CA513694600 | SCARF2 | c.2376C>A (p.Gly792=) c.2388C>A (p.Gly796=) c.2391C>A (p.Gly797=) | gnomAD v4 |
22 | g.20425601C>A | CA410738460 | SCARF2 | c.2375G>T (p.Gly792Val) c.2387G>T (p.Gly796Val) c.2390G>T (p.Gly797Val) | gnomAD v4 |
22 | g.20425601C= | CA2396362534 | SCARF2 | c.2375G= (p.Gly792=) c.2387G= (p.Gly796=) c.2390G= (p.Gly797=) | |
22 | g.20425601C>G | CA410738461 | SCARF2 | c.2375G>C (p.Gly792Ala) c.2387G>C (p.Gly796Ala) c.2390G>C (p.Gly797Ala) | gnomAD v4 |
22 | g.20425601C>T | CA410738462 | SCARF2 | c.2375G>A (p.Gly792Asp) c.2387G>A (p.Gly796Asp) c.2390G>A (p.Gly797Asp) | dbSNP gnomAD v4 |
22 | g.20425603del | CA2655397130 | SCARF2 | c.2375del (p.Gly792AlafsTer?) c.2387del (p.Gly796AlafsTer?) c.2390del (p.Gly797AlafsTer?) | gnomAD v4 |
22 | g.20425602C>A | CA410738464 | SCARF2 | c.2374G>T (p.Gly792Cys) c.2386G>T (p.Gly796Cys) c.2389G>T (p.Gly797Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425602C= | CA2396362535 | SCARF2 | c.2374G= (p.Gly792=) c.2386G= (p.Gly796=) c.2389G= (p.Gly797=) | |
22 | g.20425602C>G | CA410738463 | SCARF2 | c.2374G>C (p.Gly792Arg) c.2386G>C (p.Gly796Arg) c.2389G>C (p.Gly797Arg) | |
22 | g.20425602C>T | CA10112184 | SCARF2 | c.2374G>A (p.Gly792Ser) c.2386G>A (p.Gly796Ser) c.2389G>A (p.Gly797Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425603C>A | CA410738465 | SCARF2 | c.2373G>T (p.Gln791His) c.2385G>T (p.Gln795His) c.2388G>T (p.Gln796His) | gnomAD v4 |
22 | g.20425603C>G | CA410738466 | SCARF2 | c.2373G>C (p.Gln791His) c.2385G>C (p.Gln795His) c.2388G>C (p.Gln796His) | |
22 | g.20425603C>T | CA513694610 | SCARF2 | c.2373G>A (p.Gln791=) c.2385G>A (p.Gln795=) c.2388G>A (p.Gln796=) | gnomAD v4 |
22 | g.20425604T>A | CA410738467 | SCARF2 | c.2372A>T (p.Gln791Leu) c.2384A>T (p.Gln795Leu) c.2387A>T (p.Gln796Leu) | gnomAD v4 |
22 | g.20425604T>C | CA410738468 | SCARF2 | c.2372A>G (p.Gln791Arg) c.2384A>G (p.Gln795Arg) c.2387A>G (p.Gln796Arg) | gnomAD v4 |
22 | g.20425604T>G | CA410738469 | SCARF2 | c.2372A>C (p.Gln791Pro) c.2384A>C (p.Gln795Pro) c.2387A>C (p.Gln796Pro) | gnomAD v4 |
22 | g.20425604dup | CA2818417615 | SCARF2 | c.2372dup (p.Arg794GlnfsTer?) c.2384dup (p.Arg798GlnfsTer?) c.2387dup (p.Arg799GlnfsTer?) | |
22 | g.20425605G>A | CA410738470 | SCARF2 | c.2371C>T (p.Gln791Ter) c.2383C>T (p.Gln795Ter) c.2386C>T (p.Gln796Ter) | gnomAD v4 |
22 | g.20425605G>C | CA410738471 | SCARF2 | c.2371C>G (p.Gln791Glu) c.2383C>G (p.Gln795Glu) c.2386C>G (p.Gln796Glu) | |
22 | g.20425605G>T | CA410738472 | SCARF2 | c.2371C>A (p.Gln791Lys) c.2383C>A (p.Gln795Lys) c.2386C>A (p.Gln796Lys) | gnomAD v4 |
22 | g.20425606C>A | CA513694620 | SCARF2 | c.2370G>T (p.Ala790=) c.2382G>T (p.Ala794=) c.2385G>T (p.Ala795=) | gnomAD v4 |
22 | g.20425606C= | CA2396362536 | SCARF2 | c.2370G= (p.Ala790=) c.2382G= (p.Ala794=) c.2385G= (p.Ala795=) | |
22 | g.20425606C>G | CA513694622 | SCARF2 | c.2370G>C (p.Ala790=) c.2382G>C (p.Ala794=) c.2385G>C (p.Ala795=) | gnomAD v4 |
22 | g.20425606C>T | CA513694621 | SCARF2 | c.2370G>A (p.Ala790=) c.2382G>A (p.Ala794=) c.2385G>A (p.Ala795=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425607G>A | CA410738473 | SCARF2 | c.2369C>T (p.Ala790Val) c.2381C>T (p.Ala794Val) c.2384C>T (p.Ala795Val) | gnomAD v4 |
22 | g.20425607G>C | CA410738474 | SCARF2 | c.2369C>G (p.Ala790Gly) c.2381C>G (p.Ala794Gly) c.2384C>G (p.Ala795Gly) | |
22 | g.20425607G>T | CA410738475 | SCARF2 | c.2369C>A (p.Ala790Glu) c.2381C>A (p.Ala794Glu) c.2384C>A (p.Ala795Glu) | gnomAD v4 |
22 | g.20425608C>A | CA410738477 | SCARF2 | c.2368G>T (p.Ala790Ser) c.2380G>T (p.Ala794Ser) c.2383G>T (p.Ala795Ser) | gnomAD v4 |
22 | g.20425608C= | CA2396362537 | SCARF2 | c.2368G= (p.Ala790=) c.2380G= (p.Ala794=) c.2383G= (p.Ala795=) | |
22 | g.20425608C>G | CA410738478 | SCARF2 | c.2368G>C (p.Ala790Pro) c.2380G>C (p.Ala794Pro) c.2383G>C (p.Ala795Pro) | |
22 | g.20425608C>T | CA410738476 | SCARF2 | c.2368G>A (p.Ala790Thr) c.2380G>A (p.Ala794Thr) c.2383G>A (p.Ala795Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425609G>A | CA513694629 | SCARF2 | c.2367C>T (p.Gly789=) c.2379C>T (p.Gly793=) c.2382C>T (p.Gly794=) | gnomAD v4 |
22 | g.20425609G>C | CA513694631 | SCARF2 | c.2367C>G (p.Gly789=) c.2379C>G (p.Gly793=) c.2382C>G (p.Gly794=) | gnomAD v4 |
22 | g.20425609G>T | CA513694630 | SCARF2 | c.2367C>A (p.Gly789=) c.2379C>A (p.Gly793=) c.2382C>A (p.Gly794=) | gnomAD v4 |
22 | g.20425610C>A | CA410738479 | SCARF2 | c.2366G>T (p.Gly789Val) c.2378G>T (p.Gly793Val) c.2381G>T (p.Gly794Val) | gnomAD v4 |
22 | g.20425610C= | CA2396362538 | SCARF2 | c.2366G= (p.Gly789=) c.2378G= (p.Gly793=) c.2381G= (p.Gly794=) | |
22 | g.20425610C>G | CA410738480 | SCARF2 | c.2366G>C (p.Gly789Ala) c.2378G>C (p.Gly793Ala) c.2381G>C (p.Gly794Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425610C>T | CA410738481 | SCARF2 | c.2366G>A (p.Gly789Asp) c.2378G>A (p.Gly793Asp) c.2381G>A (p.Gly794Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425612del | CA2655397131 | SCARF2 | c.2366del (p.Gly789AlafsTer?) c.2378del (p.Gly793AlafsTer?) c.2381del (p.Gly794AlafsTer?) | gnomAD v4 |
22 | g.20425611C>A | CA410738482 | SCARF2 | c.2365G>T (p.Gly789Cys) c.2377G>T (p.Gly793Cys) c.2380G>T (p.Gly794Cys) | gnomAD v4 |
22 | g.20425611C>G | CA410738483 | SCARF2 | c.2365G>C (p.Gly789Arg) c.2377G>C (p.Gly793Arg) c.2380G>C (p.Gly794Arg) | |
22 | g.20425611C>T | CA410738484 | SCARF2 | c.2365G>A (p.Gly789Ser) c.2377G>A (p.Gly793Ser) c.2380G>A (p.Gly794Ser) | gnomAD v4 |
22 | g.20425612C>A | CA513694638 | SCARF2 | c.2364G>T (p.Leu788=) c.2376G>T (p.Leu792=) c.2379G>T (p.Leu793=) | gnomAD v4 |
22 | g.20425612C= | CA2396362539 | SCARF2 | c.2364G= (p.Leu788=) c.2376G= (p.Leu792=) c.2379G= (p.Leu793=) | |
22 | g.20425612C>G | CA513694640 | SCARF2 | c.2364G>C (p.Leu788=) c.2376G>C (p.Leu792=) c.2379G>C (p.Leu793=) | gnomAD v4 |
22 | g.20425612C>T | CA513694639 | SCARF2 | c.2364G>A (p.Leu788=) c.2376G>A (p.Leu792=) c.2379G>A (p.Leu793=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425613A= | CA2396362540 | SCARF2 | c.2363T= (p.Leu788=) c.2375T= (p.Leu792=) c.2378T= (p.Leu793=) | |
22 | g.20425613A>C | CA410738487 | SCARF2 | c.2363T>G (p.Leu788Arg) c.2375T>G (p.Leu792Arg) c.2378T>G (p.Leu793Arg) | gnomAD v4 |
22 | g.20425613A>G | CA410738485 | SCARF2 | c.2363T>C (p.Leu788Pro) c.2375T>C (p.Leu792Pro) c.2378T>C (p.Leu793Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425613A>T | CA410738486 | SCARF2 | c.2363T>A (p.Leu788Gln) c.2375T>A (p.Leu792Gln) c.2378T>A (p.Leu793Gln) | gnomAD v4 |
22 | g.20425614G>A | CA513694648 | SCARF2 | c.2362C>T (p.Leu788=) c.2374C>T (p.Leu792=) c.2377C>T (p.Leu793=) | gnomAD v4 |
22 | g.20425614G>C | CA410738488 | SCARF2 | c.2362C>G (p.Leu788Val) c.2374C>G (p.Leu792Val) c.2377C>G (p.Leu793Val) | |
22 | g.20425614G>T | CA410738489 | SCARF2 | c.2362C>A (p.Leu788Met) c.2374C>A (p.Leu792Met) c.2377C>A (p.Leu793Met) | gnomAD v4 |
22 | g.20425616del | CA2655397132 | SCARF2 | c.2362del (p.Leu788TrpfsTer?) c.2374del (p.Leu792TrpfsTer?) c.2377del (p.Leu793TrpfsTer?) | gnomAD v4 |
22 | g.20425615G>A | CA513694652 | SCARF2 | c.2361C>T (p.Ala787=) c.2373C>T (p.Ala791=) c.2376C>T (p.Ala792=) | gnomAD v4 |
22 | g.20425615G>C | CA513694650 | SCARF2 | c.2361C>G (p.Ala787=) c.2373C>G (p.Ala791=) c.2376C>G (p.Ala792=) | |
22 | g.20425615G>T | CA513694654 | SCARF2 | c.2361C>A (p.Ala787=) c.2373C>A (p.Ala791=) c.2376C>A (p.Ala792=) | gnomAD v4 |
22 | g.20425616G>A | CA410738490 | SCARF2 | c.2360C>T (p.Ala787Val) c.2372C>T (p.Ala791Val) c.2375C>T (p.Ala792Val) | gnomAD v4 |
22 | g.20425616G>C | CA410738491 | SCARF2 | c.2360C>G (p.Ala787Gly) c.2372C>G (p.Ala791Gly) c.2375C>G (p.Ala792Gly) | gnomAD v4 |
22 | g.20425616G>T | CA410738492 | SCARF2 | c.2360C>A (p.Ala787Asp) c.2372C>A (p.Ala791Asp) c.2375C>A (p.Ala792Asp) | gnomAD v4 |
22 | g.20425617C>A | CA410738493 | SCARF2 | c.2359G>T (p.Ala787Ser) c.2371G>T (p.Ala791Ser) c.2374G>T (p.Ala792Ser) | gnomAD v4 |
22 | g.20425617C>G | CA410738495 | SCARF2 | c.2359G>C (p.Ala787Pro) c.2371G>C (p.Ala791Pro) c.2374G>C (p.Ala792Pro) | gnomAD v4 |
22 | g.20425617C>T | CA410738494 | SCARF2 | c.2359G>A (p.Ala787Thr) c.2371G>A (p.Ala791Thr) c.2374G>A (p.Ala792Thr) | gnomAD v4 |
22 | g.20425618del | CA2655397134 | SCARF2 | c.2359del (p.Ala787ProfsTer?) c.2371del (p.Ala791ProfsTer?) c.2374del (p.Ala792ProfsTer?) | gnomAD v4 |
22 | g.20425618C>A | CA513694662 | SCARF2 | c.2358G>T (p.Val786=) c.2370G>T (p.Val790=) c.2373G>T (p.Val791=) | gnomAD v4 |
22 | g.20425618C>G | CA513694659 | SCARF2 | c.2358G>C (p.Val786=) c.2370G>C (p.Val790=) c.2373G>C (p.Val791=) | |
22 | g.20425618C>T | CA513694665 | SCARF2 | c.2358G>A (p.Val786=) c.2370G>A (p.Val790=) c.2373G>A (p.Val791=) | gnomAD v4 |
22 | g.20425619A>C | CA410738496 | SCARF2 | c.2357T>G (p.Val786Gly) c.2369T>G (p.Val790Gly) c.2372T>G (p.Val791Gly) | |
22 | g.20425619A>G | CA410738497 | SCARF2 | c.2357T>C (p.Val786Ala) c.2369T>C (p.Val790Ala) c.2372T>C (p.Val791Ala) | gnomAD v4 |
22 | g.20425619A>T | CA410738498 | SCARF2 | c.2357T>A (p.Val786Glu) c.2369T>A (p.Val790Glu) c.2372T>A (p.Val791Glu) | gnomAD v4 |
22 | g.20425620C>A | CA410738499 | SCARF2 | c.2356G>T (p.Val786Leu) c.2368G>T (p.Val790Leu) c.2371G>T (p.Val791Leu) | dbSNP gnomAD v4 |
22 | g.20425620C= | CA2396362541 | SCARF2 | c.2356G= (p.Val786=) c.2368G= (p.Val790=) c.2371G= (p.Val791=) | |
22 | g.20425620C>G | CA410738500 | SCARF2 | c.2356G>C (p.Val786Leu) c.2368G>C (p.Val790Leu) c.2371G>C (p.Val791Leu) | |
22 | g.20425620C>T | CA410738501 | SCARF2 | c.2356G>A (p.Val786Met) c.2368G>A (p.Val790Met) c.2371G>A (p.Val791Met) | gnomAD v4 |
22 | g.20425621C>A | CA410738502 | SCARF2 | c.2355G>T (p.Glu785Asp) c.2367G>T (p.Glu789Asp) c.2370G>T (p.Glu790Asp) | gnomAD v4 |
22 | g.20425621C>G | CA410738503 | SCARF2 | c.2355G>C (p.Glu785Asp) c.2367G>C (p.Glu789Asp) c.2370G>C (p.Glu790Asp) | |
22 | g.20425621C>T | CA513694668 | SCARF2 | c.2355G>A (p.Glu785=) c.2367G>A (p.Glu789=) c.2370G>A (p.Glu790=) | |
22 | g.20425622T>A | CA410738504 | SCARF2 | c.2354A>T (p.Glu785Val) c.2366A>T (p.Glu789Val) c.2369A>T (p.Glu790Val) | dbSNP gnomAD v4 |
22 | g.20425622T>C | CA410738505 | SCARF2 | c.2354A>G (p.Glu785Gly) c.2366A>G (p.Glu789Gly) c.2369A>G (p.Glu790Gly) | gnomAD v4 |
22 | g.20425622T>G | CA410738506 | SCARF2 | c.2354A>C (p.Glu785Ala) c.2366A>C (p.Glu789Ala) c.2369A>C (p.Glu790Ala) | |
22 | g.20425622T= | CA2396362542 | SCARF2 | c.2354A= (p.Glu785=) c.2366A= (p.Glu789=) c.2369A= (p.Glu790=) | |
22 | g.20425623del | CA2655397135 | SCARF2 | c.2353del (p.Glu785ArgfsTer?) c.2365del (p.Glu789ArgfsTer?) c.2368del (p.Glu790ArgfsTer?) | gnomAD v4 |
22 | g.20425623C>A | CA410738509 | SCARF2 | c.2353G>T (p.Glu785Ter) c.2365G>T (p.Glu789Ter) c.2368G>T (p.Glu790Ter) | gnomAD v4 |
22 | g.20425623C>G | CA410738508 | SCARF2 | c.2353G>C (p.Glu785Gln) c.2365G>C (p.Glu789Gln) c.2368G>C (p.Glu790Gln) | |
22 | g.20425623C>T | CA410738507 | SCARF2 | c.2353G>A (p.Glu785Lys) c.2365G>A (p.Glu789Lys) c.2368G>A (p.Glu790Lys) | gnomAD v4 |
22 | g.20425624G>A | CA513694674 | SCARF2 | c.2352C>T (p.Ala784=) c.2364C>T (p.Ala788=) c.2367C>T (p.Ala789=) | gnomAD v4 |
22 | g.20425624G>C | CA513694676 | SCARF2 | c.2352C>G (p.Ala784=) c.2364C>G (p.Ala788=) c.2367C>G (p.Ala789=) | |
22 | g.20425624G>T | CA513694675 | SCARF2 | c.2352C>A (p.Ala784=) c.2364C>A (p.Ala788=) c.2367C>A (p.Ala789=) | gnomAD v4 |
22 | g.20425625G>A | CA410738510 | SCARF2 | c.2351C>T (p.Ala784Val) c.2363C>T (p.Ala788Val) c.2366C>T (p.Ala789Val) | gnomAD v4 |
22 | g.20425625G>C | CA410738512 | SCARF2 | c.2351C>G (p.Ala784Gly) c.2363C>G (p.Ala788Gly) c.2366C>G (p.Ala789Gly) | |
22 | g.20425625G>T | CA410738511 | SCARF2 | c.2351C>A (p.Ala784Asp) c.2363C>A (p.Ala788Asp) c.2366C>A (p.Ala789Asp) | gnomAD v4 |
22 | g.20425626C>A | CA410738513 | SCARF2 | c.2350G>T (p.Ala784Ser) c.2362G>T (p.Ala788Ser) c.2365G>T (p.Ala789Ser) | gnomAD v4 |
22 | g.20425626C= | CA2396362543 | SCARF2 | c.2350G= (p.Ala784=) c.2362G= (p.Ala788=) c.2365G= (p.Ala789=) | |
22 | g.20425626C>G | CA410738515 | SCARF2 | c.2350G>C (p.Ala784Pro) c.2362G>C (p.Ala788Pro) c.2365G>C (p.Ala789Pro) | gnomAD v4 |
22 | g.20425626C>T | CA410738514 | SCARF2 | c.2350G>A (p.Ala784Thr) c.2362G>A (p.Ala788Thr) c.2365G>A (p.Ala789Thr) | dbSNP gnomAD v4 |
22 | g.20425627G>A | CA322182138 | SCARF2 | c.2349C>T (p.Arg783=) c.2361C>T (p.Arg787=) c.2364C>T (p.Arg788=) | dbSNP gnomAD v4 |
22 | g.20425627G>C | CA513694691 | SCARF2 | c.2349C>G (p.Arg783=) c.2361C>G (p.Arg787=) c.2364C>G (p.Arg788=) | gnomAD v4 |
22 | g.20425627G= | CA2396362553 | SCARF2 | c.2349C= (p.Arg783=) c.2361C= (p.Arg787=) c.2364C= (p.Arg788=) | |
22 | g.20425627G>T | CA513694686 | SCARF2 | c.2349C>A (p.Arg783=) c.2361C>A (p.Arg787=) c.2364C>A (p.Arg788=) | gnomAD v4 |
22 | g.20425628C>A | CA410738516 | SCARF2 | c.2348G>T (p.Arg783Leu) c.2360G>T (p.Arg787Leu) c.2363G>T (p.Arg788Leu) | gnomAD v4 |
22 | g.20425628C>G | CA410738517 | SCARF2 | c.2348G>C (p.Arg783Pro) c.2360G>C (p.Arg787Pro) c.2363G>C (p.Arg788Pro) | |
22 | g.20425628C>T | CA410738518 | SCARF2 | c.2348G>A (p.Arg783His) c.2360G>A (p.Arg787His) c.2363G>A (p.Arg788His) | gnomAD v4 |
22 | g.20425629G>A | CA410738519 | SCARF2 | c.2347C>T (p.Arg783Cys) c.2359C>T (p.Arg787Cys) c.2362C>T (p.Arg788Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425629G>C | CA410738520 | SCARF2 | c.2347C>G (p.Arg783Gly) c.2359C>G (p.Arg787Gly) c.2362C>G (p.Arg788Gly) | |
22 | g.20425629G= | CA2396362563 | SCARF2 | c.2347C= (p.Arg783=) c.2359C= (p.Arg787=) c.2362C= (p.Arg788=) | |
22 | g.20425629G>T | CA10112185 | SCARF2 | c.2347C>A (p.Arg783Ser) c.2359C>A (p.Arg787Ser) c.2362C>A (p.Arg788Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425630G>A | CA513694698 | SCARF2 | c.2346C>T (p.Gly782=) c.2358C>T (p.Gly786=) c.2361C>T (p.Gly787=) | gnomAD v4 |
22 | g.20425630G>C | CA513694697 | SCARF2 | c.2346C>G (p.Gly782=) c.2358C>G (p.Gly786=) c.2361C>G (p.Gly787=) | |
22 | g.20425630G>T | CA513694696 | SCARF2 | c.2346C>A (p.Gly782=) c.2358C>A (p.Gly786=) c.2361C>A (p.Gly787=) | gnomAD v4 |
22 | g.20425630_20425632del | CA2655397136 | SCARF2 | c.2344_2346del (p.Gly782del) c.2356_2358del (p.Gly786del) c.2359_2361del (p.Gly787del) | gnomAD v4 |
22 | g.20425631C>A | CA410738521 | SCARF2 | c.2345G>T (p.Gly782Val) c.2357G>T (p.Gly786Val) c.2360G>T (p.Gly787Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425631C= | CA2396362566 | SCARF2 | c.2345G= (p.Gly782=) c.2357G= (p.Gly786=) c.2360G= (p.Gly787=) | |
22 | g.20425631C>G | CA410738522 | SCARF2 | c.2345G>C (p.Gly782Ala) c.2357G>C (p.Gly786Ala) c.2360G>C (p.Gly787Ala) | |
22 | g.20425631C>T | CA410738523 | SCARF2 | c.2345G>A (p.Gly782Asp) c.2357G>A (p.Gly786Asp) c.2360G>A (p.Gly787Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425633del | CA2655397137 | SCARF2 | c.2345del (p.Gly782AlafsTer?) c.2357del (p.Gly786AlafsTer?) c.2360del (p.Gly787AlafsTer?) | gnomAD v4 |
22 | g.20425632C>A | CA410738524 | SCARF2 | c.2344G>T (p.Gly782Cys) c.2356G>T (p.Gly786Cys) c.2359G>T (p.Gly787Cys) | gnomAD v4 |
22 | g.20425632C= | CA2396362568 | SCARF2 | c.2344G= (p.Gly782=) c.2356G= (p.Gly786=) c.2359G= (p.Gly787=) | |
22 | g.20425632C>G | CA410738525 | SCARF2 | c.2344G>C (p.Gly782Arg) c.2356G>C (p.Gly786Arg) c.2359G>C (p.Gly787Arg) | |
22 | g.20425632C>T | CA322182150 | SCARF2 | c.2344G>A (p.Gly782Ser) c.2356G>A (p.Gly786Ser) c.2359G>A (p.Gly787Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425633C>A | CA513694709 | SCARF2 | c.2343G>T (p.Leu781=) c.2355G>T (p.Leu785=) c.2358G>T (p.Leu786=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425633C= | CA2396362570 | SCARF2 | c.2343G= (p.Leu781=) c.2355G= (p.Leu785=) c.2358G= (p.Leu786=) | |
22 | g.20425633C>G | CA513694707 | SCARF2 | c.2343G>C (p.Leu781=) c.2355G>C (p.Leu785=) c.2358G>C (p.Leu786=) | gnomAD v4 |
22 | g.20425633C>T | CA513694706 | SCARF2 | c.2343G>A (p.Leu781=) c.2355G>A (p.Leu785=) c.2358G>A (p.Leu786=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |