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.20425532G>A | CA410738268 | SCARF2 | c.2444C>T (p.Ala815Val) c.2456C>T (p.Ala819Val) c.2459C>T (p.Ala820Val) | gnomAD v4 |
22 | g.20425532G>C | CA10112172 | SCARF2 | c.2444C>G (p.Ala815Gly) c.2456C>G (p.Ala819Gly) c.2459C>G (p.Ala820Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425532G= | CA2396362494 | SCARF2 | c.2444C= (p.Ala815=) c.2456C= (p.Ala819=) c.2459C= (p.Ala820=) | |
22 | g.20425532G>T | CA10112173 | SCARF2 | c.2444C>A (p.Ala815Glu) c.2456C>A (p.Ala819Glu) c.2459C>A (p.Ala820Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 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.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 |