Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50697481_50697565del | CA2819323177 | SHANK3 | c.948-83_949del n.1532-83_1533del c.1305-83_1306del c.1345-84_1345del c.1326-83_1327del | |
22 | g.50697501_50697563del | CA1026686733 | SHANK3 | c.948-63_948-1del (n.948-63_948-1del) n.1532-63_1532-1del c.1305-63_1305-1del (n.1305-63_1305-1del) c.1345-64_1345-2del (n.1345-64_1345-2del) c.1326-63_1326-1del (n.1326-63_1326-1del) | gnomAD v3 gnomAD v4 |
22 | g.50697502_50697596delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC | CA2410995259 | SHANK3 | c.948-62_980delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC n.1532-62_1564delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1305-62_1337delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1345-63_1376delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC c.1326-62_1358delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC | |
22 | g.50697504_50697597del | CA1026686745 | SHANK3 | c.948-60_981del n.1532-60_1565del c.1305-60_1338del c.1345-61_1377del c.1326-60_1359del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697513_50697564del | CA2592022303 | SHANK3 | c.948-51_948del n.1532-51_1532del c.1305-51_1305del c.1345-52_1345-1del (n.1345-52_1345-1del) c.1326-51_1326del | gnomAD v3 gnomAD v4 |
22 | g.50697531_50697580del | CA1026686959 | SHANK3 | c.948-33_964del n.1532-33_1548del c.1305-33_1321del c.1345-34_1360del c.1326-33_1342del | gnomAD v3 gnomAD v4 |
22 | g.50697535_50697582del | CA2819325422 | SHANK3 | c.948-29_966del n.1532-29_1550del c.1305-29_1323del c.1345-30_1362del c.1326-29_1344del | |
22 | g.50697539_50697566delinsGCTGTATTCGAATTCGAGCTCGGTTCCC | CA2410995303 | SHANK3 | c.948-25_950delinsGCTGTATTCGAATTCGAGCTCGGTTCCC n.1532-25_1534delinsGCTGTATTCGAATTCGAGCTCGGTTCCC c.1305-25_1307delinsGCTGTATTCGAATTCGAGCTCGGTTCCC c.1345-26_1346delinsGCTGTATTCGAATTCGAGCTCGGTTCCC c.1326-25_1328delinsGCTGTATTCGAATTCGAGCTCGGTTCCC | |
22 | g.50697539_50697584delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC | CA2410995302 | SHANK3 | c.948-25_968delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC n.1532-25_1552delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC c.1305-25_1325delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC c.1345-26_1364delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC c.1326-25_1346delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC | |
22 | g.50697539_50697589delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC | CA2410995301 | SHANK3 | c.948-25_973delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC n.1532-25_1557delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1305-25_1330delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1345-26_1369delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC c.1326-25_1351delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC | |
22 | g.50697541_50697567del | CA1026687077 | SHANK3 | c.948-23_951del n.1532-23_1535del c.1305-23_1308del c.1345-24_1347del c.1326-23_1329del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697541_50697585del | CA1026687073 | SHANK3 | c.948-23_969del n.1532-23_1553del c.1305-23_1326del c.1345-24_1365del c.1326-23_1347del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697541_50697590del | CA1026687076 | SHANK3 | c.948-23_974del n.1532-23_1558del c.1305-23_1331del c.1345-24_1370del c.1326-23_1352del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697542_50697583delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC | CA2410995314 | SHANK3 | c.948-22_967delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC n.1532-22_1551delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC c.1305-22_1324delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC c.1345-23_1363delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC c.1326-22_1345delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC | |
22 | g.50697543_50697583del | CA1026687230 | SHANK3 | c.948-21_967del n.1532-21_1551del c.1305-21_1324del c.1345-22_1363del c.1326-21_1345del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697556_50697563delinsGCTCGGTT | CA2410995333 | SHANK3 | c.948-8_948-1delinsGCTCGGTT (n.948-8_948-1delinsGCTCGGTT) n.1532-8_1532-1delinsGCTCGGTT c.1305-8_1305-1delinsGCTCGGTT (n.1305-8_1305-1delinsGCTCGGTT) c.1345-9_1345-2delinsGCTCGGTT (n.1345-9_1345-2delinsGCTCGGTT) c.1326-8_1326-1delinsGCTCGGTT (n.1326-8_1326-1delinsGCTCGGTT) | |
22 | g.50697558_50697564del | CA515254815 | SHANK3 | c.948-6_948del n.1532-6_1532del c.1305-6_1305del c.1345-7_1345-1del (n.1345-7_1345-1del) c.1326-6_1326del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697558_50697582del | CA2532220397 | SHANK3 | c.948-6_966del n.1532-6_1550del c.1305-6_1323del c.1345-7_1362del c.1326-6_1344del | |
22 | g.50697561_50697562del | CA2657598374 | SHANK3 | c.948-3_948-2del (n.948-3_948-2del) n.1532-3_1532-2del c.1305-3_1305-2del (n.1305-3_1305-2del) c.1345-4_1345-3del (n.1345-4_1345-3del) c.1326-3_1326-2del (n.1326-3_1326-2del) | gnomAD v4 |
22 | g.50697561_50697563del | CA2657598372 | SHANK3 | c.948-3_948-1del (n.948-3_948-1del) n.1532-3_1532-1del c.1305-3_1305-1del (n.1305-3_1305-1del) c.1345-4_1345-2del (n.1345-4_1345-2del) c.1326-3_1326-1del (n.1326-3_1326-1del) | gnomAD v4 |
22 | g.50697561_50697563delinsGTT | CA2410995337 | SHANK3 | c.948-3_948-1delinsGTT (n.948-3_948-1delinsGTT) n.1532-3_1532-1delinsGTT c.1305-3_1305-1delinsGTT (n.1305-3_1305-1delinsGTT) c.1345-4_1345-2delinsGTT (n.1345-4_1345-2delinsGTT) c.1326-3_1326-1delinsGTT (n.1326-3_1326-1delinsGTT) | |
22 | g.50697562T>A | CA515254834 | SHANK3 | c.948-2T>A (n.948-2T>A) n.1532-2T>A c.1305-2T>A (n.1305-2T>A) c.1345-3T>A (n.1345-3T>A) c.1326-2T>A (n.1326-2T>A) | |
22 | g.50697562T>C | CA515254833 | SHANK3 | c.948-2T>C (n.948-2T>C) n.1532-2T>C c.1305-2T>C (n.1305-2T>C) c.1345-3T>C (n.1345-3T>C) c.1326-2T>C (n.1326-2T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697562T>G | CA325553884 | SHANK3 | c.948-2T>G (n.948-2T>G) n.1532-2T>G c.1305-2T>G (n.1305-2T>G) c.1345-3T>G (n.1345-3T>G) c.1326-2T>G (n.1326-2T>G) | dbSNP gnomAD v4 |
22 | g.50697562T= | CA2410995339 | SHANK3 | c.948-2T= (n.948-2T=) n.1532-2T= c.1305-2T= (n.1305-2T=) c.1345-3T= (n.1345-3T=) c.1326-2T= (n.1326-2T=) | |
22 | g.50697562_50697563del | CA515254832 | SHANK3 | c.948-2_948-1del (n.948-2_948-1del) n.1532-2_1532-1del c.1305-2_1305-1del (n.1305-2_1305-1del) c.1345-3_1345-2del (n.1345-3_1345-2del) c.1326-2_1326-1del (n.1326-2_1326-1del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697563del | CA1026687550 | SHANK3 | c.948-1del (n.948-1del) n.1532-1del c.1305-1del (n.1305-1del) c.1345-2del (n.1345-2del) c.1326-1del (n.1326-1del) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697567del | CA2657598394 | SHANK3 | c.948-2_951del n.1532-2_1535del c.1305-2_1308del c.1345-3_1347del c.1326-2_1329del | gnomAD v4 |
22 | g.50697562_50697563insG | CA2532219821 | SHANK3 | c.948-2_948-1insG (n.948-2_948-1insG) n.1532-2_1532-1insG c.1305-2_1305-1insG (n.1305-2_1305-1insG) c.1345-3_1345-2insG (n.1345-3_1345-2insG) c.1326-2_1326-1insG (n.1326-2_1326-1insG) | gnomAD v4 |
22 | g.50697562_50697563insCCCG | CA2657598413 | SHANK3 | c.948-2_948-1insCCCG (n.948-2_948-1insCCCG) n.1532-2_1532-1insCCCG c.1305-2_1305-1insCCCG (n.1305-2_1305-1insCCCG) c.1345-3_1345-2insCCCG (n.1345-3_1345-2insCCCG) c.1326-2_1326-1insCCCG (n.1326-2_1326-1insCCCG) | gnomAD v4 |
22 | g.50697562_50697563insGCGC | CA2657598408 | SHANK3 | c.948-2_948-1insGCGC (n.948-2_948-1insGCGC) n.1532-2_1532-1insGCGC c.1305-2_1305-1insGCGC (n.1305-2_1305-1insGCGC) c.1345-3_1345-2insGCGC (n.1345-3_1345-2insGCGC) c.1326-2_1326-1insGCGC (n.1326-2_1326-1insGCGC) | gnomAD v4 |
22 | g.50697562_50697563insGAGCCCGGCCCCG | CA1026687574 | SHANK3 | c.948-2_948-1insGAGCCCGGCCCCG (n.948-2_948-1insGAGCCCGGCCCCG) n.1532-2_1532-1insGAGCCCGGCCCCG c.1305-2_1305-1insGAGCCCGGCCCCG (n.1305-2_1305-1insGAGCCCGGCCCCG) c.1345-3_1345-2insGAGCCCGGCCCCG (n.1345-3_1345-2insGAGCCCGGCCCCG) c.1326-2_1326-1insGAGCCCGGCCCCG (n.1326-2_1326-1insGAGCCCGGCCCCG) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697563insGAGGCCGGCGGCGGGGCCG | CA1026687571 | SHANK3 | c.948-2_948-1insGAGGCCGGCGGCGGGGCCG (n.948-2_948-1insGAGGCCGGCGGCGGGGCCG) n.1532-2_1532-1insGAGGCCGGCGGCGGGGCCG c.1305-2_1305-1insGAGGCCGGCGGCGGGGCCG (n.1305-2_1305-1insGAGGCCGGCGGCGGGGCCG) c.1345-3_1345-2insGAGGCCGGCGGCGGGGCCG (n.1345-3_1345-2insGAGGCCGGCGGCGGGGCCG) c.1326-2_1326-1insGAGGCCGGCGGCGGGGCCG (n.1326-2_1326-1insGAGGCCGGCGGCGGGGCCG) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697563insGAGGCCGGCGGCGGGGCCGG | CA1026687562 | SHANK3 | c.948-2_948-1insGAGGCCGGCGGCGGGGCCGG (n.948-2_948-1insGAGGCCGGCGGCGGGGCCGG) n.1532-2_1532-1insGAGGCCGGCGGCGGGGCCGG c.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGG (n.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGG) c.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGG (n.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGG) c.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGG (n.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGG) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697563insGAGGCCGGCGGCGGGGCCGGGCCCCG | CA1026687565 | SHANK3 | c.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG (n.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG) n.1532-2_1532-1insGAGGCCGGCGGCGGGGCCGGGCCCCG c.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCCG (n.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCCG) c.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGGGCCCCG (n.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGGGCCCCG) c.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGGGCCCCG (n.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGGGCCCCG) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697563insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG | CA1026687573 | SHANK3 | c.948-2_948-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.948-2_948-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) n.1532-2_1532-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG c.1305-2_1305-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1305-2_1305-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) c.1345-3_1345-2insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1345-3_1345-2insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) c.1326-2_1326-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1326-2_1326-1insGAGGCCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) | gnomAD v3 gnomAD v4 |
22 | g.50697562_50697563insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG | CA1026687572 | SHANK3 | c.948-2_948-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.948-2_948-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) n.1532-2_1532-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG c.1305-2_1305-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1305-2_1305-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) c.1345-3_1345-2insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1345-3_1345-2insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) c.1326-2_1326-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG (n.1326-2_1326-1insGAGGCCGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCG) | gnomAD v3 gnomAD v4 |
22 | g.50697563T>A | CA515254835 | SHANK3 | c.948-1T>A (n.948-1T>A) n.1532-1T>A c.1305-1T>A (n.1305-1T>A) c.1345-2T>A (n.1345-2T>A) c.1326-1T>A (n.1326-1T>A) | |
22 | g.50697563T>C | CA515254836 | SHANK3 | c.948-1T>C (n.948-1T>C) n.1532-1T>C c.1305-1T>C (n.1305-1T>C) c.1345-2T>C (n.1345-2T>C) c.1326-1T>C (n.1326-1T>C) | gnomAD v4 |
22 | g.50697563T>G | CA515254837 | SHANK3 | c.948-1T>G (n.948-1T>G) n.1532-1T>G c.1305-1T>G (n.1305-1T>G) c.1345-2T>G (n.1345-2T>G) c.1326-1T>G (n.1326-1T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697563T= | CA2410995340 | SHANK3 | c.948-1T= (n.948-1T=) n.1532-1T= c.1305-1T= (n.1305-1T=) c.1345-2T= (n.1345-2T=) c.1326-1T= (n.1326-1T=) | |
22 | g.50697563_50697564insGCGCCCGGCCCCGG | CA2657598427 | SHANK3 | c.948-1_948insGCGCCCGGCCCCGG (n.948-1_948insGCGCCCGGCCCCGG) n.1532-1_1532insGCGCCCGGCCCCGG c.1305-1_1305insGCGCCCGGCCCCGG (n.1305-1_1305insGCGCCCGGCCCCGG) c.1-1_1insGCGCCCGGCCCCGG c.1345-2_1345-1insGCGCCCGGCCCCGG (n.1345-2_1345-1insGCGCCCGGCCCCGG) c.1326-1_1326insGCGCCCGGCCCCGG (n.1326-1_1326insGCGCCCGGCCCCGG) | gnomAD v4 |
22 | g.50697563_50697564insGGCGCCCGGCCCCGG | CA2657598429 | SHANK3 | c.948-1_948insGGCGCCCGGCCCCGG (n.948-1_948insGGCGCCCGGCCCCGG) n.1532-1_1532insGGCGCCCGGCCCCGG c.1305-1_1305insGGCGCCCGGCCCCGG (n.1305-1_1305insGGCGCCCGGCCCCGG) c.1-1_1insGGCGCCCGGCCCCGG c.1345-2_1345-1insGGCGCCCGGCCCCGG (n.1345-2_1345-1insGGCGCCCGGCCCCGG) c.1326-1_1326insGGCGCCCGGCCCCGG (n.1326-1_1326insGGCGCCCGGCCCCGG) | gnomAD v4 |
22 | g.50697564C>A | CA515254839 | SHANK3 | c.948C>A (p.Ser316Arg) n.1532C>A c.1305C>A (p.Ser435Arg) c.1C>A c.1345-1C>A (n.1345-1C>A) c.1326C>A (p.Cys442Ter) | |
22 | g.50697564C>G | CA515254840 | SHANK3 | c.948C>G (p.Ser316Arg) n.1532C>G c.1305C>G (p.Ser435Arg) c.1C>G c.1345-1C>G (n.1345-1C>G) c.1326C>G (p.Cys442Trp) | |
22 | g.50697564C>T | CA515254841 | SHANK3 | c.948C>T (p.Ser316=) n.1532C>T c.1305C>T (p.Ser435=) c.1C>T c.1345-1C>T (n.1345-1C>T) c.1326C>T (p.Cys442=) | |
22 | g.50697564_50697565insGTGCGGCCCCGGC | CA2657598425 | SHANK3 | c.948_949insGTGCGGCCCCGGC (p.Pro317ValfsTer?) n.1532_1533insGTGCGGCCCCGGC c.1305_1306insGTGCGGCCCCGGC (p.Pro436ValfsTer?) c.1_2insGTGCGGCCCCGGC c.1345-1_1345insGTGCGGCCCCGGC (n.1345-1_1345insGTGCGGCCCCGGC) c.1326_1327insGTGCGGCCCCGGC (p.Pro443ValfsTer?) | gnomAD v4 |
22 | g.50697564_50697565insGTGCGCCCGGCCCCGGC | CA1026687581 | SHANK3 | c.948_949insGTGCGCCCGGCCCCGGC (p.Pro317ValfsTer?) n.1532_1533insGTGCGCCCGGCCCCGGC c.1305_1306insGTGCGCCCGGCCCCGGC (p.Pro436ValfsTer?) c.1_2insGTGCGCCCGGCCCCGGC c.1345-1_1345insGTGCGCCCGGCCCCGGC (n.1345-1_1345insGTGCGCCCGGCCCCGGC) c.1326_1327insGTGCGCCCGGCCCCGGC (p.Pro443ValfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC | CA1026687588 | SHANK3 | c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC (p.Ser316_Pro317insValTyrSerProSerGlyProGlyGlyProGly) n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC (p.Ser435_Pro436insValTyrSerProSerGlyProGlyGlyProGly) c.1_2insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC c.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC (n.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC) c.1326_1327insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC (p.Cys442_Pro443insValTyrSerProSerGlyProGlyGlyProGly) | gnomAD v3 gnomAD v4 |
22 | g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC | CA640359008 | SHANK3 | c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC (p.Ser316_Pro317insValTyrSerProSerGlyProGlyGlyProGlyProAlaProGlyProGly) n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC (p.Ser435_Pro436insValTyrSerProSerGlyProGlyGlyProGlyProAlaProGlyProGly) c.1_2insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC c.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC (n.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC) c.1326_1327insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC (p.Cys442_Pro443insValTyrSerProSerGlyProGlyGlyProGlyProAlaProGlyProGly) | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGGCCGGGCC | CA1026687594 | SHANK3 | c.949_950insGGGCCGGGCC (p.Pro317ArgfsTer?) n.1533_1534insGGGCCGGGCC c.1306_1307insGGGCCGGGCC (p.Pro436ArgfsTer?) c.2_3insGGGCCGGGCC c.1345_1346insGGGCCGGGCC c.1327_1328insGGGCCGGGCC (p.Pro443ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGCGCCCGGCCCCGGCC | CA1026687595 | SHANK3 | c.949_950insGCGCCCGGCCCCGGCC (p.Pro317ArgfsTer?) n.1533_1534insGCGCCCGGCCCCGGCC c.1306_1307insGCGCCCGGCCCCGGCC (p.Pro436ArgfsTer?) c.2_3insGCGCCCGGCCCCGGCC c.1345_1346insGCGCCCGGCCCCGGCC c.1327_1328insGCGCCCGGCCCCGGCC (p.Pro443ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGGCCGGGCCCCCGCC | CA1026687599 | SHANK3 | c.949_950insGGGCCGGGCCCCCGCC (p.Pro317ArgfsTer?) n.1533_1534insGGGCCGGGCCCCCGCC c.1306_1307insGGGCCGGGCCCCCGCC (p.Pro436ArgfsTer?) c.2_3insGGGCCGGGCCCCCGCC c.1345_1346insGGGCCGGGCCCCCGCC c.1327_1328insGGGCCGGGCCCCCGCC (p.Pro443ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGGCCGGGCCCCGGCC | CA1026687591 | SHANK3 | c.949_950insGGGCCGGGCCCCGGCC (p.Pro317ArgfsTer?) n.1533_1534insGGGCCGGGCCCCGGCC c.1306_1307insGGGCCGGGCCCCGGCC (p.Pro436ArgfsTer?) c.2_3insGGGCCGGGCCCCGGCC c.1345_1346insGGGCCGGGCCCCGGCC c.1327_1328insGGGCCGGGCCCCGGCC (p.Pro443ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGCCCCGCGCCCGGCCCCGGCC | CA2556482379 | SHANK3 | c.949_950insGGCCCCGCGCCCGGCCCCGGCC (p.Pro317ArgfsTer?) n.1533_1534insGGCCCCGCGCCCGGCCCCGGCC c.1306_1307insGGCCCCGCGCCCGGCCCCGGCC (p.Pro436ArgfsTer?) c.2_3insGGCCCCGCGCCCGGCCCCGGCC c.1345_1346insGGCCCCGCGCCCGGCCCCGGCC c.1327_1328insGGCCCCGCGCCCGGCCCCGGCC (p.Pro443ArgfsTer?) | |
22 | g.50697565_50697566insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC | CA1026687593 | SHANK3 | c.949_950insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC (p.Pro317ArgfsTer40) n.1533_1534insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC c.1306_1307insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC (p.Pro436ArgfsTer40) c.2_3insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC c.1345_1346insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC c.1327_1328insGGGCCGGGCCCCCGCGCCCGGCCCCGGCC (p.Pro443ArgfsTer40) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC | CA1026687592 | SHANK3 | c.949_950insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro317ArgfsTer45) n.1533_1534insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1306_1307insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro436ArgfsTer45) c.2_3insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1345_1346insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1327_1328insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro443ArgfsTer45) | gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC | CA2592022326 | SHANK3 | c.949_950insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro317ArgfsTer50) n.1533_1534insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1306_1307insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro436ArgfsTer50) c.2_3insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1345_1346insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC c.1327_1328insGGGCCGGGCCCCCGGCGGGCAGGCGGGCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC (p.Pro443ArgfsTer50) | gnomAD v3 gnomAD v4 |
22 | g.50697568_50697569insGCCCCG | CA640359007 | SHANK3 | c.952_953insGCCCCG (p.Pro317_Ala318insGlyPro) n.1536_1537insGCCCCG c.1309_1310insGCCCCG (p.Pro436_Ala437insGlyPro) c.5_6insGCCCCG c.1348_1349insGCCCCG c.1330_1331insGCCCCG (p.Pro443_Ala444insGlyPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697568_50697569insGCCCCGGCCCCG | CA1026687596 | SHANK3 | c.952_953insGCCCCGGCCCCG (p.Pro317_Ala318insGlyProGlyPro) n.1536_1537insGCCCCGGCCCCG c.1309_1310insGCCCCGGCCCCG (p.Pro436_Ala437insGlyProGlyPro) c.5_6insGCCCCGGCCCCG c.1348_1349insGCCCCGGCCCCG c.1330_1331insGCCCCGGCCCCG (p.Pro443_Ala444insGlyProGlyPro) | gnomAD v3 gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCGCCC | CA10325518 | SHANK3 | c.957_958insGGCCCCGGCCCCGCGCCC (p.Pro319_Pro320insGlyProGlyProAlaPro) n.1541_1542insGGCCCCGGCCCCGCGCCC c.1314_1315insGGCCCCGGCCCCGCGCCC (p.Pro438_Pro439insGlyProGlyProAlaPro) c.10_11insGGCCCCGGCCCCGCGCCC c.1353_1354insGGCCCCGGCCCCGCGCCC c.1335_1336insGGCCCCGGCCCCGCGCCC (p.Pro445_Pro446insGlyProGlyProAlaPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697564_50697565insGTG | CA1026687606 | SHANK3 | c.948_949insGTG (p.Ser316_Pro317insVal) n.1532_1533insGTG c.1-1_1insGTG (n.1-1_1insGTG) c.1305_1306insGTG (p.Ser435_Pro436insVal) c.1_2insGTG c.1345-1_1345insGTG (n.1345-1_1345insGTG) c.1326_1327insGTG (p.Cys442_Pro443insVal) | gnomAD v3 gnomAD v4 |
22 | g.50697565C>A | CA515254842 | SHANK3 | c.949C>A (p.Pro317Thr) n.1533C>A c.1C>A (p.Pro1Thr) c.1306C>A (p.Pro436Thr) c.2C>A c.1345C>A (p.Pro449Thr) c.1327C>A (p.Pro443Thr) | |
22 | g.50697565C= | CA2410995341 | SHANK3 | c.949C= (p.Pro317=) n.1533C= c.1C= (p.Pro1=) c.1306C= (p.Pro436=) c.2C= c.1345C= (p.Pro449=) c.1327C= (p.Pro443=) | |
22 | g.50697565C>G | CA515254843 | SHANK3 | c.949C>G (p.Pro317Ala) n.1533C>G c.1C>G (p.Pro1Ala) c.1306C>G (p.Pro436Ala) c.2C>G c.1345C>G (p.Pro449Ala) c.1327C>G (p.Pro443Ala) | |
22 | g.50697565C>T | CA515254844 | SHANK3 | c.949C>T (p.Pro317Ser) n.1533C>T c.1C>T (p.Pro1Ser) c.1306C>T (p.Pro436Ser) c.2C>T c.1345C>T (p.Pro449Ser) c.1327C>T (p.Pro443Ser) | gnomAD v4 |
22 | g.50697568_50697569insGCCCG | CA2657598440 | SHANK3 | c.952_953insGCCCG (p.Ala318GlyfsTer31) n.1536_1537insGCCCG c.4_5insGCCCG (p.Ala2GlyfsTer31) c.1309_1310insGCCCG (p.Ala437GlyfsTer31) c.5_6insGCCCG c.1348_1349insGCCCG (p.Ala450GlyfsTer31) c.1330_1331insGCCCG (p.Ala444GlyfsTer31) | gnomAD v4 |
22 | g.50697565_50697566insG | CA2657598451 | SHANK3 | c.949_950insG (p.Pro317ArgfsTer?) n.1533_1534insG c.1_2insG (p.Pro1ArgfsTer?) c.1306_1307insG (p.Pro436ArgfsTer?) c.2_3insG c.1345_1346insG (p.Pro449ArgfsTer?) c.1327_1328insG (p.Pro443ArgfsTer?) | gnomAD v4 |
22 | g.50697565_50697566insGGG | CA640359009 | SHANK3 | c.949_950insGGG (p.Pro317delinsArgAla) n.1533_1534insGGG c.1_2insGGG (p.Pro1delinsArgAla) c.1306_1307insGGG (p.Pro436delinsArgAla) c.2_3insGGG c.1345_1346insGGG (p.Pro449delinsArgAla) c.1327_1328insGGG (p.Pro443delinsArgAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697565_50697566insGCTGGCGGGAGCGGG | CA1026687609 | SHANK3 | c.949_950insGCTGGCGGGAGCGGG (p.Pro317delinsArgTrpArgGluArgAla) n.1533_1534insGCTGGCGGGAGCGGG c.1_2insGCTGGCGGGAGCGGG (p.Pro1delinsArgTrpArgGluArgAla) c.1306_1307insGCTGGCGGGAGCGGG (p.Pro436delinsArgTrpArgGluArgAla) c.2_3insGCTGGCGGGAGCGGG c.1345_1346insGCTGGCGGGAGCGGG (p.Pro449delinsArgTrpArgGluArgAla) c.1327_1328insGCTGGCGGGAGCGGG (p.Pro443delinsArgTrpArgGluArgAla) | gnomAD v3 gnomAD v4 |
22 | g.50697566C>A | CA515254847 | SHANK3 | c.950C>A (p.Pro317His) n.1534C>A c.2C>A (p.Pro1His) c.1307C>A (p.Pro436His) c.3C>A c.1346C>A (p.Pro449His) c.1328C>A (p.Pro443His) | |
22 | g.50697566C>G | CA515254846 | SHANK3 | c.950C>G (p.Pro317Arg) n.1534C>G c.2C>G (p.Pro1Arg) c.1307C>G (p.Pro436Arg) c.3C>G c.1346C>G (p.Pro449Arg) c.1328C>G (p.Pro443Arg) | |
22 | g.50697566C>T | CA515254845 | SHANK3 | c.950C>T (p.Pro317Leu) n.1534C>T c.2C>T (p.Pro1Leu) c.1307C>T (p.Pro436Leu) c.3C>T c.1346C>T (p.Pro449Leu) c.1328C>T (p.Pro443Leu) | |
22 | g.50697566_50697567insGTG | CA2657598458 | SHANK3 | c.950_951insGTG (p.Pro317_Ala318insCys) n.1534_1535insGTG c.2_3insGTG (p.Pro1_Ala2insCys) c.1307_1308insGTG (p.Pro436_Ala437insCys) c.3_4insGTG c.1346_1347insGTG (p.Pro449_Ala450insCys) c.1328_1329insGTG (p.Pro443_Ala444insCys) | gnomAD v4 |
22 | g.50697566_50697567insTGG | CA2657598457 | SHANK3 | c.950_951insTGG (p.Pro317_Ala318insGly) n.1534_1535insTGG c.2_3insTGG (p.Pro1_Ala2insGly) c.1307_1308insTGG (p.Pro436_Ala437insGly) c.3_4insTGG c.1346_1347insTGG (p.Pro449_Ala450insGly) c.1328_1329insTGG (p.Pro443_Ala444insGly) | gnomAD v4 |
22 | g.50697566_50697567insTGGCGGGAG | CA2657598454 | SHANK3 | c.950_951insTGGCGGGAG (p.Pro317_Ala318insGlyGlySer) n.1534_1535insTGGCGGGAG c.2_3insTGGCGGGAG (p.Pro1_Ala2insGlyGlySer) c.1307_1308insTGGCGGGAG (p.Pro436_Ala437insGlyGlySer) c.3_4insTGGCGGGAG c.1346_1347insTGGCGGGAG (p.Pro449_Ala450insGlyGlySer) c.1328_1329insTGGCGGGAG (p.Pro443_Ala444insGlyGlySer) | gnomAD v4 |
22 | g.50697567C>A | CA515254848 | SHANK3 | c.951C>A (p.Pro317=) n.1535C>A c.3C>A (p.Pro1=) c.1308C>A (p.Pro436=) c.4C>A c.1347C>A (p.Pro449=) c.1329C>A (p.Pro443=) | |
22 | g.50697567C= | CA2410995342 | SHANK3 | c.951C= (p.Pro317=) n.1535C= c.3C= (p.Pro1=) c.1308C= (p.Pro436=) c.4C= c.1347C= (p.Pro449=) c.1329C= (p.Pro443=) | |
22 | g.50697567C>G | CA515254849 | SHANK3 | c.951C>G (p.Pro317=) n.1535C>G c.3C>G (p.Pro1=) c.1308C>G (p.Pro436=) c.4C>G c.1347C>G (p.Pro449=) c.1329C>G (p.Pro443=) | |
22 | g.50697567C>T | CA515254850 | SHANK3 | c.951C>T (p.Pro317=) n.1535C>T c.3C>T (p.Pro1=) c.1308C>T (p.Pro436=) c.4C>T c.1347C>T (p.Pro449=) c.1329C>T (p.Pro443=) | |
22 | g.50697568_50697569insGCCACG | CA2819325435 | SHANK3 | c.952_953insGCCACG (p.Pro317_Ala318insGlyHis) n.1536_1537insGCCACG c.4_5insGCCACG (p.Pro1_Ala2insGlyHis) c.1309_1310insGCCACG (p.Pro436_Ala437insGlyHis) c.5_6insGCCACG c.1348_1349insGCCACG (p.Pro449_Ala450insGlyHis) c.1330_1331insGCCACG (p.Pro443_Ala444insGlyHis) | |
22 | g.50697567_50697568insT | CA2577768309 | SHANK3 | c.951_952insT (p.Ala318CysfsTer?) n.1535_1536insT c.3_4insT (p.Ala2CysfsTer?) c.1308_1309insT (p.Ala437CysfsTer?) c.4_5insT c.1347_1348insT (p.Ala450CysfsTer?) c.1329_1330insT (p.Ala444CysfsTer?) | |
22 | g.50697568G>A | CA515254851 | SHANK3 | c.952G>A (p.Ala318Thr) n.1536G>A c.4G>A (p.Ala2Thr) c.1309G>A (p.Ala437Thr) c.5G>A c.1348G>A (p.Ala450Thr) c.1330G>A (p.Ala444Thr) | gnomAD v4 |
22 | g.50697568G>C | CA515254852 | SHANK3 | c.952G>C (p.Ala318Pro) n.1536G>C c.4G>C (p.Ala2Pro) c.1309G>C (p.Ala437Pro) c.5G>C c.1348G>C (p.Ala450Pro) c.1330G>C (p.Ala444Pro) | |
22 | g.50697568G>T | CA515254853 | SHANK3 | c.952G>T (p.Ala318Ser) n.1536G>T c.4G>T (p.Ala2Ser) c.1309G>T (p.Ala437Ser) c.5G>T c.1348G>T (p.Ala450Ser) c.1330G>T (p.Ala444Ser) | gnomAD v4 |
22 | g.50697568_50697569insGG | CA1026687616 | SHANK3 | c.952_953insGG (p.Ala318GlyfsTer30) n.1536_1537insGG c.4_5insGG (p.Ala2GlyfsTer30) c.1309_1310insGG (p.Ala437GlyfsTer30) c.5_6insGG c.1348_1349insGG (p.Ala450GlyfsTer30) c.1330_1331insGG (p.Ala444GlyfsTer30) | gnomAD v3 gnomAD v4 |
22 | g.50697568_50697569insGAG | CA2657598466 | SHANK3 | c.952_953insGAG (p.Pro317_Ala318insGly) n.1536_1537insGAG c.4_5insGAG (p.Pro1_Ala2insGly) c.1309_1310insGAG (p.Pro436_Ala437insGly) c.5_6insGAG c.1348_1349insGAG (p.Pro449_Ala450insGly) c.1330_1331insGAG (p.Pro443_Ala444insGly) | dbSNP gnomAD v4 |
22 | g.50697568_50697569insGCCCTG | CA2657598472 | SHANK3 | c.952_953insGCCCTG (p.Pro317_Ala318insGlyPro) n.1536_1537insGCCCTG c.4_5insGCCCTG (p.Pro1_Ala2insGlyPro) c.1309_1310insGCCCTG (p.Pro436_Ala437insGlyPro) c.5_6insGCCCTG c.1348_1349insGCCCTG (p.Pro449_Ala450insGlyPro) c.1330_1331insGCCCTG (p.Pro443_Ala444insGlyPro) | gnomAD v4 |
22 | g.50697568_50697569insGAGCCCTG | CA2839095020 | SHANK3 | c.952_953insGAGCCCTG (p.Ala318GlyfsTer32) n.1536_1537insGAGCCCTG c.4_5insGAGCCCTG (p.Ala2GlyfsTer32) c.1309_1310insGAGCCCTG (p.Ala437GlyfsTer32) c.5_6insGAGCCCTG c.1348_1349insGAGCCCTG (p.Ala450GlyfsTer32) c.1330_1331insGAGCCCTG (p.Ala444GlyfsTer32) | |
22 | g.50697568_50697569insGAGCCCTGAG | CA2657598467 | SHANK3 | c.952_953insGAGCCCTGAG (p.Ala318GlyfsTer?) n.1536_1537insGAGCCCTGAG c.4_5insGAGCCCTGAG (p.Ala2GlyfsTer?) c.1309_1310insGAGCCCTGAG (p.Ala437GlyfsTer?) c.5_6insGAGCCCTGAG c.1348_1349insGAGCCCTGAG (p.Ala450GlyfsTer?) c.1330_1331insGAGCCCTGAG (p.Ala444GlyfsTer?) | gnomAD v4 |
22 | g.50697568_50697569insGAGCCCTGAGCGGG | CA920392397 | SHANK3 | c.952_953insGAGCCCTGAGCGGG (p.Ala318GlyfsTer34) n.1536_1537insGAGCCCTGAGCGGG c.4_5insGAGCCCTGAGCGGG (p.Ala2GlyfsTer34) c.1309_1310insGAGCCCTGAGCGGG (p.Ala437GlyfsTer34) c.5_6insGAGCCCTGAGCGGG c.1348_1349insGAGCCCTGAGCGGG (p.Ala450GlyfsTer34) c.1330_1331insGAGCCCTGAGCGGG (p.Ala444GlyfsTer34) | dbSNP gnomAD v4 |
22 | g.50697568dup | CA2738166792 | SHANK3 | c.952dup (p.Ala318GlyfsTer?) n.1536dup c.4dup (p.Ala2GlyfsTer?) c.1309dup (p.Ala437GlyfsTer?) c.5dup c.1348dup (p.Ala450GlyfsTer?) c.1330dup (p.Ala444GlyfsTer?) | dbSNP |
22 | g.50697576_50697584del | CA2657598474 | SHANK3 | c.960_968del (p.Ala321_Pro323del) n.1544_1552del c.12_20del (p.Ala5_Pro7del) c.1317_1325del (p.Ala440_Pro442del) c.13_21del c.1356_1364del (p.Ala453_Pro455del) c.1338_1346del (p.Ala447_Pro449del) | gnomAD v4 |
22 | g.50697568_50697569insGCCCCC | CA2738232199 | SHANK3 | c.952_953insGCCCCC (p.Ala318delinsGlyProPro) n.1536_1537insGCCCCC c.4_5insGCCCCC (p.Ala2delinsGlyProPro) c.1309_1310insGCCCCC (p.Ala437delinsGlyProPro) c.5_6insGCCCCC c.1348_1349insGCCCCC (p.Ala450delinsGlyProPro) c.1330_1331insGCCCCC (p.Ala444delinsGlyProPro) | dbSNP |
22 | g.50697569C>A | CA515254854 | SHANK3 | c.953C>A (p.Ala318Glu) n.1537C>A c.5C>A (p.Ala2Glu) c.1310C>A (p.Ala437Glu) c.6C>A c.1349C>A (p.Ala450Glu) c.1331C>A (p.Ala444Glu) | dbSNP gnomAD v4 |
22 | g.50697569C= | CA2410995343 | SHANK3 | c.953C= (p.Ala318=) n.1537C= c.5C= (p.Ala2=) c.1310C= (p.Ala437=) c.6C= c.1349C= (p.Ala450=) c.1331C= (p.Ala444=) | |
22 | g.50697569C>G | CA515254855 | SHANK3 | c.953C>G (p.Ala318Gly) n.1537C>G c.5C>G (p.Ala2Gly) c.1310C>G (p.Ala437Gly) c.6C>G c.1349C>G (p.Ala450Gly) c.1331C>G (p.Ala444Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697569C>T | CA515254856 | SHANK3 | c.953C>T (p.Ala318Val) n.1537C>T c.5C>T (p.Ala2Val) c.1310C>T (p.Ala437Val) c.6C>T c.1349C>T (p.Ala450Val) c.1331C>T (p.Ala444Val) | gnomAD v4 |
22 | g.50697569_50697570insA | CA1026687619 | SHANK3 | c.953_954insA (p.Pro319AlafsTer?) n.1537_1538insA c.5_6insA (p.Pro3AlafsTer?) c.1310_1311insA (p.Pro438AlafsTer?) c.6_7insA c.1349_1350insA (p.Pro451AlafsTer?) c.1331_1332insA (p.Pro445AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697569_50697570insCCTGA | CA2657598492 | SHANK3 | c.953_954insCCTGA (p.Pro319LeufsTer30) n.1537_1538insCCTGA c.5_6insCCTGA (p.Pro3LeufsTer30) c.1310_1311insCCTGA (p.Pro438LeufsTer30) c.6_7insCCTGA c.1349_1350insCCTGA (p.Pro451LeufsTer30) c.1331_1332insCCTGA (p.Pro445LeufsTer30) | dbSNP gnomAD v4 |
22 | g.50697570G>A | CA515254857 | SHANK3 | c.954G>A (p.Ala318=) n.1538G>A c.6G>A (p.Ala2=) c.1311G>A (p.Ala437=) c.7G>A c.1350G>A (p.Ala450=) c.1332G>A (p.Ala444=) | dbSNP gnomAD v4 |
22 | g.50697570G>C | CA515254858 | SHANK3 | c.954G>C (p.Ala318=) n.1538G>C c.6G>C (p.Ala2=) c.1311G>C (p.Ala437=) c.7G>C c.1350G>C (p.Ala450=) c.1332G>C (p.Ala444=) | gnomAD v4 |
22 | g.50697570G= | CA2410995344 | SHANK3 | c.954G= (p.Ala318=) n.1538G= c.6G= (p.Ala2=) c.1311G= (p.Ala437=) c.7G= c.1350G= (p.Ala450=) c.1332G= (p.Ala444=) | |
22 | g.50697570G>T | CA515254859 | SHANK3 | c.954G>T (p.Ala318=) n.1538G>T c.6G>T (p.Ala2=) c.1311G>T (p.Ala437=) c.7G>T c.1350G>T (p.Ala450=) c.1332G>T (p.Ala444=) | dbSNP gnomAD v4 |
22 | g.50697570dup | CA2657598494 | SHANK3 | c.954dup (p.Pro319AlafsTer?) n.1538dup c.6dup (p.Pro3AlafsTer?) c.1311dup (p.Pro438AlafsTer?) c.7dup c.1350dup (p.Pro451AlafsTer?) c.1332dup (p.Pro445AlafsTer?) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGAGCCC | CA2657598498 | SHANK3 | c.957_958insGGCCCCGGCCCCGAGCCC (p.Pro319_Pro320insGlyProGlyProGluPro) n.1541_1542insGGCCCCGGCCCCGAGCCC c.9_10insGGCCCCGGCCCCGAGCCC (p.Pro3_Pro4insGlyProGlyProGluPro) c.1314_1315insGGCCCCGGCCCCGAGCCC (p.Pro438_Pro439insGlyProGlyProGluPro) c.10_11insGGCCCCGGCCCCGAGCCC c.1353_1354insGGCCCCGGCCCCGAGCCC (p.Pro451_Pro452insGlyProGlyProGluPro) c.1335_1336insGGCCCCGGCCCCGAGCCC (p.Pro445_Pro446insGlyProGlyProGluPro) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGTGCCC | CA2657598489 | SHANK3 | c.957_958insGGCCCCGGCCCCGTGCCC (p.Pro319_Pro320insGlyProGlyProValPro) n.1541_1542insGGCCCCGGCCCCGTGCCC c.9_10insGGCCCCGGCCCCGTGCCC (p.Pro3_Pro4insGlyProGlyProValPro) c.1314_1315insGGCCCCGGCCCCGTGCCC (p.Pro438_Pro439insGlyProGlyProValPro) c.10_11insGGCCCCGGCCCCGTGCCC c.1353_1354insGGCCCCGGCCCCGTGCCC (p.Pro451_Pro452insGlyProGlyProValPro) c.1335_1336insGGCCCCGGCCCCGTGCCC (p.Pro445_Pro446insGlyProGlyProValPro) | gnomAD v4 |
22 | g.50697571C>A | CA515254862 | SHANK3 | c.955C>A (p.Pro319Thr) n.1539C>A c.7C>A (p.Pro3Thr) c.1312C>A (p.Pro438Thr) c.8C>A c.1351C>A (p.Pro451Thr) c.1333C>A (p.Pro445Thr) | gnomAD v4 |
22 | g.50697571C= | CA2410995345 | SHANK3 | c.955C= (p.Pro319=) n.1539C= c.7C= (p.Pro3=) c.1312C= (p.Pro438=) c.8C= c.1351C= (p.Pro451=) c.1333C= (p.Pro445=) | |
22 | g.50697571C>G | CA515254861 | SHANK3 | c.955C>G (p.Pro319Ala) n.1539C>G c.7C>G (p.Pro3Ala) c.1312C>G (p.Pro438Ala) c.8C>G c.1351C>G (p.Pro451Ala) c.1333C>G (p.Pro445Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50697571C>T | CA515254860 | SHANK3 | c.955C>T (p.Pro319Ser) n.1539C>T c.7C>T (p.Pro3Ser) c.1312C>T (p.Pro438Ser) c.8C>T c.1351C>T (p.Pro451Ser) c.1333C>T (p.Pro445Ser) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCACCC | CA2657598505 | SHANK3 | c.957_958insGGCCCCGGCCCCGCACCC (p.Pro319_Pro320insGlyProGlyProAlaPro) n.1541_1542insGGCCCCGGCCCCGCACCC c.9_10insGGCCCCGGCCCCGCACCC (p.Pro3_Pro4insGlyProGlyProAlaPro) c.1314_1315insGGCCCCGGCCCCGCACCC (p.Pro438_Pro439insGlyProGlyProAlaPro) c.10_11insGGCCCCGGCCCCGCACCC c.1353_1354insGGCCCCGGCCCCGCACCC (p.Pro451_Pro452insGlyProGlyProAlaPro) c.1335_1336insGGCCCCGGCCCCGCACCC (p.Pro445_Pro446insGlyProGlyProAlaPro) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCTCCC | CA1026687623 | SHANK3 | c.957_958insGGCCCCGGCCCCGCTCCC (p.Pro319_Pro320insGlyProGlyProAlaPro) n.1541_1542insGGCCCCGGCCCCGCTCCC c.9_10insGGCCCCGGCCCCGCTCCC (p.Pro3_Pro4insGlyProGlyProAlaPro) c.1314_1315insGGCCCCGGCCCCGCTCCC (p.Pro438_Pro439insGlyProGlyProAlaPro) c.10_11insGGCCCCGGCCCCGCTCCC c.1353_1354insGGCCCCGGCCCCGCTCCC (p.Pro451_Pro452insGlyProGlyProAlaPro) c.1335_1336insGGCCCCGGCCCCGCTCCC (p.Pro445_Pro446insGlyProGlyProAlaPro) | gnomAD v3 gnomAD v4 |
22 | g.50697575dup | CA2657598510 | SHANK3 | c.959dup (p.Ala321CysfsTer?) n.1543dup c.11dup (p.Ala5CysfsTer?) c.1316dup (p.Ala440CysfsTer?) c.12dup c.1355dup (p.Ala453CysfsTer?) c.1337dup (p.Ala447CysfsTer?) | gnomAD v4 |
22 | g.50697571_50697593del | CA1026687628 | SHANK3 | c.955_977del (p.Pro319AlafsTer28) n.1539_1561del c.7_29del (p.Pro3AlafsTer28) c.1312_1334del (p.Pro438AlafsTer28) c.8_30del c.1351_1373del (p.Pro451AlafsTer28) c.1333_1355del (p.Pro445AlafsTer28) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697571_50697572insGGCGGCACGG | CA1026687634 | SHANK3 | c.955_956insGGCGGCACGG (p.Pro319ArgfsTer?) n.1539_1540insGGCGGCACGG c.7_8insGGCGGCACGG (p.Pro3ArgfsTer?) c.1312_1313insGGCGGCACGG (p.Pro438ArgfsTer?) c.8_9insGGCGGCACGG c.1351_1352insGGCGGCACGG (p.Pro451ArgfsTer?) c.1333_1334insGGCGGCACGG (p.Pro445ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697572C>A | CA515254863 | SHANK3 | c.956C>A (p.Pro319His) n.1540C>A c.8C>A (p.Pro3His) c.1313C>A (p.Pro438His) c.9C>A c.1352C>A (p.Pro451His) c.1334C>A (p.Pro445His) | gnomAD v4 |
22 | g.50697572C>G | CA515254864 | SHANK3 | c.956C>G (p.Pro319Arg) n.1540C>G c.8C>G (p.Pro3Arg) c.1313C>G (p.Pro438Arg) c.9C>G c.1352C>G (p.Pro451Arg) c.1334C>G (p.Pro445Arg) | gnomAD v4 |
22 | g.50697572C>T | CA515254865 | SHANK3 | c.956C>T (p.Pro319Leu) n.1540C>T c.8C>T (p.Pro3Leu) c.1313C>T (p.Pro438Leu) c.9C>T c.1352C>T (p.Pro451Leu) c.1334C>T (p.Pro445Leu) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCGACC | CA2657598517 | SHANK3 | c.957_958insGGCCCCGGCCCCGCGACC (p.Pro319_Pro320insGlyProGlyProAlaThr) n.1541_1542insGGCCCCGGCCCCGCGACC c.9_10insGGCCCCGGCCCCGCGACC (p.Pro3_Pro4insGlyProGlyProAlaThr) c.1314_1315insGGCCCCGGCCCCGCGACC (p.Pro438_Pro439insGlyProGlyProAlaThr) c.10_11insGGCCCCGGCCCCGCGACC c.1353_1354insGGCCCCGGCCCCGCGACC (p.Pro451_Pro452insGlyProGlyProAlaThr) c.1335_1336insGGCCCCGGCCCCGCGACC (p.Pro445_Pro446insGlyProGlyProAlaThr) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCGTCC | CA2657598531 | SHANK3 | c.957_958insGGCCCCGGCCCCGCGTCC (p.Pro319_Pro320insGlyProGlyProAlaSer) n.1541_1542insGGCCCCGGCCCCGCGTCC c.9_10insGGCCCCGGCCCCGCGTCC (p.Pro3_Pro4insGlyProGlyProAlaSer) c.1314_1315insGGCCCCGGCCCCGCGTCC (p.Pro438_Pro439insGlyProGlyProAlaSer) c.10_11insGGCCCCGGCCCCGCGTCC c.1353_1354insGGCCCCGGCCCCGCGTCC (p.Pro451_Pro452insGlyProGlyProAlaSer) c.1335_1336insGGCCCCGGCCCCGCGTCC (p.Pro445_Pro446insGlyProGlyProAlaSer) | gnomAD v4 |
22 | g.50697573C>A | CA515254866 | SHANK3 | c.957C>A (p.Pro319=) n.1541C>A c.9C>A (p.Pro3=) c.1314C>A (p.Pro438=) c.10C>A c.1353C>A (p.Pro451=) c.1335C>A (p.Pro445=) | gnomAD v4 |
22 | g.50697573C= | CA2410995346 | SHANK3 | c.957C= (p.Pro319=) n.1541C= c.9C= (p.Pro3=) c.1314C= (p.Pro438=) c.10C= c.1353C= (p.Pro451=) c.1335C= (p.Pro445=) | |
22 | g.50697573C>G | CA515254867 | SHANK3 | c.957C>G (p.Pro319=) n.1541C>G c.9C>G (p.Pro3=) c.1314C>G (p.Pro438=) c.10C>G c.1353C>G (p.Pro451=) c.1335C>G (p.Pro445=) | dbSNP |
22 | g.50697573C>T | CA515254868 | SHANK3 | c.957C>T (p.Pro319=) n.1541C>T c.9C>T (p.Pro3=) c.1314C>T (p.Pro438=) c.10C>T c.1353C>T (p.Pro451=) c.1335C>T (p.Pro445=) | gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGC | CA2657598540 | SHANK3 | c.957_958insGGCCCCGGC (p.Pro319_Pro320insGlyProGly) n.1541_1542insGGCCCCGGC c.9_10insGGCCCCGGC (p.Pro3_Pro4insGlyProGly) c.1314_1315insGGCCCCGGC (p.Pro438_Pro439insGlyProGly) c.10_11insGGCCCCGGC c.1353_1354insGGCCCCGGC (p.Pro451_Pro452insGlyProGly) c.1335_1336insGGCCCCGGC (p.Pro445_Pro446insGlyProGly) | gnomAD v4 |
22 | g.50697575_50697590del | CA1026687638 | SHANK3 | c.959_974del (p.Pro320ArgfsTer22) n.1543_1558del c.11_26del (p.Pro4ArgfsTer22) c.1316_1331del (p.Pro439ArgfsTer22) c.12_27del c.1355_1370del (p.Pro452ArgfsTer22) c.1337_1352del (p.Pro446ArgfsTer22) | gnomAD v3 gnomAD v4 |
22 | g.50697573_50697574insGGCCCCGGCCCCGCGCCG | CA1026687641 | SHANK3 | c.957_958insGGCCCCGGCCCCGCGCCG (p.Pro319_Pro320insGlyProGlyProAlaPro) n.1541_1542insGGCCCCGGCCCCGCGCCG c.9_10insGGCCCCGGCCCCGCGCCG (p.Pro3_Pro4insGlyProGlyProAlaPro) c.1314_1315insGGCCCCGGCCCCGCGCCG (p.Pro438_Pro439insGlyProGlyProAlaPro) c.10_11insGGCCCCGGCCCCGCGCCG c.1353_1354insGGCCCCGGCCCCGCGCCG (p.Pro451_Pro452insGlyProGlyProAlaPro) c.1335_1336insGGCCCCGGCCCCGCGCCG (p.Pro445_Pro446insGlyProGlyProAlaPro) | gnomAD v3 gnomAD v4 |
22 | g.50697574C>A | CA515254869 | SHANK3 | c.958C>A (p.Pro320Thr) n.1542C>A c.10C>A (p.Pro4Thr) c.1315C>A (p.Pro439Thr) c.11C>A c.1354C>A (p.Pro452Thr) c.1336C>A (p.Pro446Thr) | gnomAD v4 |
22 | g.50697574C>G | CA515254870 | SHANK3 | c.958C>G (p.Pro320Ala) n.1542C>G c.10C>G (p.Pro4Ala) c.1315C>G (p.Pro439Ala) c.11C>G c.1354C>G (p.Pro452Ala) c.1336C>G (p.Pro446Ala) | gnomAD v3 gnomAD v4 |
22 | g.50697574C>T | CA515254871 | SHANK3 | c.958C>T (p.Pro320Ser) n.1542C>T c.10C>T (p.Pro4Ser) c.1315C>T (p.Pro439Ser) c.11C>T c.1354C>T (p.Pro452Ser) c.1336C>T (p.Pro446Ser) | gnomAD v4 |
22 | g.50697574_50697575insATGGAGCGG | CA2819325436 | SHANK3 | c.958_959insATGGAGCGG (p.Pro320delinsHisGlyAlaAla) n.1542_1543insATGGAGCGG c.10_11insATGGAGCGG (p.Pro4delinsHisGlyAlaAla) c.1315_1316insATGGAGCGG (p.Pro439delinsHisGlyAlaAla) c.11_12insATGGAGCGG c.1354_1355insATGGAGCGG (p.Pro452delinsHisGlyAlaAla) c.1336_1337insATGGAGCGG (p.Pro446delinsHisGlyAlaAla) | |
22 | g.50697574_50697575insGGAGCCCTGAGCGGGCGCGG | CA2657598547 | SHANK3 | c.958_959insGGAGCCCTGAGCGGGCGCGG (p.Pro320ArgfsTer34) n.1542_1543insGGAGCCCTGAGCGGGCGCGG c.10_11insGGAGCCCTGAGCGGGCGCGG (p.Pro4ArgfsTer34) c.1315_1316insGGAGCCCTGAGCGGGCGCGG (p.Pro439ArgfsTer34) c.11_12insGGAGCCCTGAGCGGGCGCGG c.1354_1355insGGAGCCCTGAGCGGGCGCGG (p.Pro452ArgfsTer34) c.1336_1337insGGAGCCCTGAGCGGGCGCGG (p.Pro446ArgfsTer34) | gnomAD v4 |
22 | g.50697575C>A | CA515254872 | SHANK3 | c.959C>A (p.Pro320His) n.1543C>A c.11C>A (p.Pro4His) c.1316C>A (p.Pro439His) c.12C>A c.1355C>A (p.Pro452His) c.1337C>A (p.Pro446His) | gnomAD v3 gnomAD v4 |
22 | g.50697575C= | CA2410995347 | SHANK3 | c.959C= (p.Pro320=) n.1543C= c.11C= (p.Pro4=) c.1316C= (p.Pro439=) c.12C= c.1355C= (p.Pro452=) c.1337C= (p.Pro446=) | |
22 | g.50697575C>G | CA515254873 | SHANK3 | c.959C>G (p.Pro320Arg) n.1543C>G c.11C>G (p.Pro4Arg) c.1316C>G (p.Pro439Arg) c.12C>G c.1355C>G (p.Pro452Arg) c.1337C>G (p.Pro446Arg) | gnomAD v4 |
22 | g.50697575C>T | CA515254874 | SHANK3 | c.959C>T (p.Pro320Leu) n.1543C>T c.11C>T (p.Pro4Leu) c.1316C>T (p.Pro439Leu) c.12C>T c.1355C>T (p.Pro452Leu) c.1337C>T (p.Pro446Leu) | gnomAD v4 |
22 | g.50697575_50697576insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC | CA2819325437 | SHANK3 | c.959_960insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC (p.Pro322GlyfsTer38) n.1543_1544insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC c.11_12insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC (p.Pro6GlyfsTer38) c.1316_1317insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC (p.Pro441GlyfsTer38) c.12_13insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC c.1355_1356insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC (p.Pro454GlyfsTer38) c.1337_1338insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGC (p.Pro448GlyfsTer38) | |
22 | g.50697575_50697576del | CA1026687652 | SHANK3 | c.959_960del (p.Pro320ArgfsTer?) n.1543_1544del c.11_12del (p.Pro4ArgfsTer?) c.1316_1317del (p.Pro439ArgfsTer?) c.12_13del c.1355_1356del (p.Pro452ArgfsTer?) c.1337_1338del (p.Pro446ArgfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50697575_50697576insGGAGCCCTGAGCGGGCGCGGCTCG | CA640359010 | SHANK3 | c.959_960insGGAGCCCTGAGCGGGCGCGGCTCG (p.Pro321GlufsTer3) n.1543_1544insGGAGCCCTGAGCGGGCGCGGCTCG c.11_12insGGAGCCCTGAGCGGGCGCGGCTCG (p.Pro5GlufsTer3) c.1316_1317insGGAGCCCTGAGCGGGCGCGGCTCG (p.Pro440GlufsTer3) c.12_13insGGAGCCCTGAGCGGGCGCGGCTCG c.1355_1356insGGAGCCCTGAGCGGGCGCGGCTCG (p.Pro453GlufsTer3) c.1337_1338insGGAGCCCTGAGCGGGCGCGGCTCG (p.Pro447GlufsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697576T>A | CA515254877 | SHANK3 | c.960T>A (p.Pro320=) n.1544T>A c.12T>A (p.Pro4=) c.1317T>A (p.Pro439=) c.13T>A c.1356T>A (p.Pro452=) c.1338T>A (p.Pro446=) | gnomAD v3 gnomAD v4 |
22 | g.50697576T>C | CA515254876 | SHANK3 | c.960T>C (p.Pro320=) n.1544T>C c.12T>C (p.Pro4=) c.1317T>C (p.Pro439=) c.13T>C c.1356T>C (p.Pro452=) c.1338T>C (p.Pro446=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697576T>G | CA515254875 | SHANK3 | c.960T>G (p.Pro320=) n.1544T>G c.12T>G (p.Pro4=) c.1317T>G (p.Pro439=) c.13T>G c.1356T>G (p.Pro452=) c.1338T>G (p.Pro446=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697576T= | CA2410995348 | SHANK3 | c.960T= (p.Pro320=) n.1544T= c.12T= (p.Pro4=) c.1317T= (p.Pro439=) c.13T= c.1356T= (p.Pro452=) c.1338T= (p.Pro446=) | |
22 | g.50697576_50697577insC | CA2819325438 | SHANK3 | c.960_961insC (p.Ala321ArgfsTer?) n.1544_1545insC c.12_13insC (p.Ala5ArgfsTer?) c.1317_1318insC (p.Ala440ArgfsTer?) c.13_14insC c.1356_1357insC (p.Ala453ArgfsTer?) c.1338_1339insC (p.Ala447ArgfsTer?) | |
22 | g.50697576_50697577insCCGG | CA2819325439 | SHANK3 | c.960_961insCCGG (p.Ala321ProfsTer?) n.1544_1545insCCGG c.12_13insCCGG (p.Ala5ProfsTer?) c.1317_1318insCCGG (p.Ala440ProfsTer?) c.13_14insCCGG c.1356_1357insCCGG (p.Ala453ProfsTer?) c.1338_1339insCCGG (p.Ala447ProfsTer?) | |
22 | g.50697577G>A | CA515254878 | SHANK3 | c.961G>A (p.Ala321Thr) n.1545G>A c.13G>A (p.Ala5Thr) c.1318G>A (p.Ala440Thr) c.14G>A c.1357G>A (p.Ala453Thr) c.1339G>A (p.Ala447Thr) | dbSNP gnomAD v4 |
22 | g.50697577G>C | CA515254880 | SHANK3 | c.961G>C (p.Ala321Pro) n.1545G>C c.13G>C (p.Ala5Pro) c.1318G>C (p.Ala440Pro) c.14G>C c.1357G>C (p.Ala453Pro) c.1339G>C (p.Ala447Pro) | gnomAD v4 |
22 | g.50697577G= | CA2410995349 | SHANK3 | c.961G= (p.Ala321=) n.1545G= c.13G= (p.Ala5=) c.1318G= (p.Ala440=) c.14G= c.1357G= (p.Ala453=) c.1339G= (p.Ala447=) | |
22 | g.50697577G>T | CA515254879 | SHANK3 | c.961G>T (p.Ala321Ser) n.1545G>T c.13G>T (p.Ala5Ser) c.1318G>T (p.Ala440Ser) c.14G>T c.1357G>T (p.Ala453Ser) c.1339G>T (p.Ala447Ser) | gnomAD v4 |
22 | g.50697579_50697587dup | CA2657598565 | SHANK3 | c.963_971dup (p.Ala324_Pro325insProProAla) n.1547_1555dup c.15_23dup (p.Ala8_Pro9insProProAla) c.1320_1328dup (p.Ala443_Pro444insProProAla) c.16_24dup c.1359_1367dup (p.Ala456_Pro457insProProAla) c.1341_1349dup (p.Ala450_Pro451insProProAla) | gnomAD v4 |
22 | g.50697579_50697587del | CA2657598564 | SHANK3 | c.963_971del (p.Pro322_Ala324del) n.1547_1555del c.15_23del (p.Pro6_Ala8del) c.1320_1328del (p.Pro441_Ala443del) c.16_24del c.1359_1367del (p.Pro454_Ala456del) c.1341_1349del (p.Pro448_Ala450del) | gnomAD v4 |
22 | g.50697578C>A | CA515254881 | SHANK3 | c.962C>A (p.Ala321Glu) n.1546C>A c.14C>A (p.Ala5Glu) c.1319C>A (p.Ala440Glu) c.15C>A c.1358C>A (p.Ala453Glu) c.1340C>A (p.Ala447Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697578C= | CA2410995350 | SHANK3 | c.962C= (p.Ala321=) n.1546C= c.14C= (p.Ala5=) c.1319C= (p.Ala440=) c.15C= c.1358C= (p.Ala453=) c.1340C= (p.Ala447=) | |
22 | g.50697578C>G | CA515254882 | SHANK3 | c.962C>G (p.Ala321Gly) n.1546C>G c.14C>G (p.Ala5Gly) c.1319C>G (p.Ala440Gly) c.15C>G c.1358C>G (p.Ala453Gly) c.1340C>G (p.Ala447Gly) | gnomAD v4 |
22 | g.50697578C>T | CA515254883 | SHANK3 | c.962C>T (p.Ala321Val) n.1546C>T c.14C>T (p.Ala5Val) c.1319C>T (p.Ala440Val) c.15C>T c.1358C>T (p.Ala453Val) c.1340C>T (p.Ala447Val) | gnomAD v4 |
22 | g.50697578_50697579insCGG | CA2819325440 | SHANK3 | c.962_963insCGG (p.Ala321_Pro322insGly) n.1546_1547insCGG c.14_15insCGG (p.Ala5_Pro6insGly) c.1319_1320insCGG (p.Ala440_Pro441insGly) c.15_16insCGG c.1358_1359insCGG (p.Ala453_Pro454insGly) c.1340_1341insCGG (p.Ala447_Pro448insGly) | |
22 | g.50697579G>A | CA10325519 | SHANK3 | c.963G>A (p.Ala321=) n.1547G>A c.15G>A (p.Ala5=) c.1320G>A (p.Ala440=) c.16G>A c.1359G>A (p.Ala453=) c.1341G>A (p.Ala447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697579G>C | CA515254884 | SHANK3 | c.963G>C (p.Ala321=) n.1547G>C c.15G>C (p.Ala5=) c.1320G>C (p.Ala440=) c.16G>C c.1359G>C (p.Ala453=) c.1341G>C (p.Ala447=) | gnomAD v4 |
22 | g.50697579G= | CA2410995351 | SHANK3 | c.963G= (p.Ala321=) n.1547G= c.15G= (p.Ala5=) c.1320G= (p.Ala440=) c.16G= c.1359G= (p.Ala453=) c.1341G= (p.Ala447=) | |
22 | g.50697579G>T | CA515254885 | SHANK3 | c.963G>T (p.Ala321=) n.1547G>T c.15G>T (p.Ala5=) c.1320G>T (p.Ala440=) c.16G>T c.1359G>T (p.Ala453=) c.1341G>T (p.Ala447=) | dbSNP gnomAD v4 |
22 | g.50697579_50697580insGGCAGGCGCGCGGCCCGG | CA2558162360 | SHANK3 | c.963_964insGGCAGGCGCGCGGCCCGG (p.Ala321_Pro322insGlyArgArgAlaAlaArg) n.1547_1548insGGCAGGCGCGCGGCCCGG c.15_16insGGCAGGCGCGCGGCCCGG (p.Ala5_Pro6insGlyArgArgAlaAlaArg) c.1320_1321insGGCAGGCGCGCGGCCCGG (p.Ala440_Pro441insGlyArgArgAlaAlaArg) c.16_17insGGCAGGCGCGCGGCCCGG c.1359_1360insGGCAGGCGCGCGGCCCGG (p.Ala453_Pro454insGlyArgArgAlaAlaArg) c.1341_1342insGGCAGGCGCGCGGCCCGG (p.Ala447_Pro448insGlyArgArgAlaAlaArg) | |
22 | g.50697580C>A | CA515254886 | SHANK3 | c.964C>A (p.Pro322Thr) n.1548C>A c.16C>A (p.Pro6Thr) c.1321C>A (p.Pro441Thr) c.17C>A c.1360C>A (p.Pro454Thr) c.1342C>A (p.Pro448Thr) | gnomAD v4 |
22 | g.50697580C= | CA2410995352 | SHANK3 | c.964C= (p.Pro322=) n.1548C= c.16C= (p.Pro6=) c.1321C= (p.Pro441=) c.17C= c.1360C= (p.Pro454=) c.1342C= (p.Pro448=) | |
22 | g.50697580C>G | CA515254887 | SHANK3 | c.964C>G (p.Pro322Ala) n.1548C>G c.16C>G (p.Pro6Ala) c.1321C>G (p.Pro441Ala) c.17C>G c.1360C>G (p.Pro454Ala) c.1342C>G (p.Pro448Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697580C>T | CA515254888 | SHANK3 | c.964C>T (p.Pro322Ser) n.1548C>T c.16C>T (p.Pro6Ser) c.1321C>T (p.Pro441Ser) c.17C>T c.1360C>T (p.Pro454Ser) c.1342C>T (p.Pro448Ser) | dbSNP gnomAD v4 |
22 | g.50697585dup | CA16621796 | SHANK3 | c.969dup (p.Ala324ArgfsTer?) n.1553dup c.21dup (p.Ala8ArgfsTer?) c.1326dup (p.Ala443ArgfsTer?) c.22dup c.1365dup (p.Ala456ArgfsTer?) c.1347dup (p.Ala450ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697585del | CA2577768310 | SHANK3 | c.969del (p.Ala324HisfsTer23) n.1553del c.21del (p.Ala8HisfsTer23) c.1326del (p.Ala443HisfsTer23) c.22del c.1365del (p.Ala456HisfsTer23) c.1347del (p.Ala450HisfsTer23) | gnomAD v4 |
22 | g.50697584_50697585del | CA2657598573 | SHANK3 | c.968_969del (p.Pro323ArgfsTer?) n.1552_1553del c.20_21del (p.Pro7ArgfsTer?) c.1325_1326del (p.Pro442ArgfsTer?) c.21_22del c.1364_1365del (p.Pro455ArgfsTer?) c.1346_1347del (p.Pro449ArgfsTer?) | gnomAD v4 |
22 | g.50697580_50697581insTGG | CA754138580 | SHANK3 | c.964_965insTGG (p.Pro322delinsLeuAla) n.1548_1549insTGG c.16_17insTGG (p.Pro6delinsLeuAla) c.1321_1322insTGG (p.Pro441delinsLeuAla) c.17_18insTGG c.1360_1361insTGG (p.Pro454delinsLeuAla) c.1342_1343insTGG (p.Pro448delinsLeuAla) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697580_50697581insTGGCGGGAGCGGG | CA640359011 | SHANK3 | c.964_965insTGGCGGGAGCGGG (p.Pro322LeufsTer?) n.1548_1549insTGGCGGGAGCGGG c.16_17insTGGCGGGAGCGGG (p.Pro6LeufsTer?) c.1321_1322insTGGCGGGAGCGGG (p.Pro441LeufsTer?) c.17_18insTGGCGGGAGCGGG c.1360_1361insTGGCGGGAGCGGG (p.Pro454LeufsTer?) c.1342_1343insTGGCGGGAGCGGG (p.Pro448LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697581C>A | CA515254889 | SHANK3 | c.965C>A (p.Pro322His) n.1549C>A c.17C>A (p.Pro6His) c.1322C>A (p.Pro441His) c.18C>A c.1361C>A (p.Pro454His) c.1343C>A (p.Pro448His) | gnomAD v4 |
22 | g.50697581C= | CA2410995353 | SHANK3 | c.965C= (p.Pro322=) n.1549C= c.17C= (p.Pro6=) c.1322C= (p.Pro441=) c.18C= c.1361C= (p.Pro454=) c.1343C= (p.Pro448=) | |
22 | g.50697581C>G | CA515254891 | SHANK3 | c.965C>G (p.Pro322Arg) n.1549C>G c.17C>G (p.Pro6Arg) c.1322C>G (p.Pro441Arg) c.18C>G c.1361C>G (p.Pro454Arg) c.1343C>G (p.Pro448Arg) | |
22 | g.50697581C>T | CA515254892 | SHANK3 | c.965C>T (p.Pro322Leu) n.1549C>T c.17C>T (p.Pro6Leu) c.1322C>T (p.Pro441Leu) c.18C>T c.1361C>T (p.Pro454Leu) c.1343C>T (p.Pro448Leu) | gnomAD v4 |
22 | g.50697581_50697582insGGGAGCGGG | CA754138582 | SHANK3 | c.965_966insGGGAGCGGG (p.Pro322_Pro323insGlyAlaGly) n.1549_1550insGGGAGCGGG c.17_18insGGGAGCGGG (p.Pro6_Pro7insGlyAlaGly) c.1322_1323insGGGAGCGGG (p.Pro441_Pro442insGlyAlaGly) c.18_19insGGGAGCGGG c.1361_1362insGGGAGCGGG (p.Pro454_Pro455insGlyAlaGly) c.1343_1344insGGGAGCGGG (p.Pro448_Pro449insGlyAlaGly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697582C>A | CA515254895 | SHANK3 | c.966C>A (p.Pro322=) n.1550C>A c.18C>A (p.Pro6=) c.1323C>A (p.Pro441=) c.19C>A c.1362C>A (p.Pro454=) c.1344C>A (p.Pro448=) | gnomAD v4 |
22 | g.50697582C= | CA2410995354 | SHANK3 | c.966C= (p.Pro322=) n.1550C= c.18C= (p.Pro6=) c.1323C= (p.Pro441=) c.19C= c.1362C= (p.Pro454=) c.1344C= (p.Pro448=) | |
22 | g.50697582C>G | CA515254893 | SHANK3 | c.966C>G (p.Pro322=) n.1550C>G c.18C>G (p.Pro6=) c.1323C>G (p.Pro441=) c.19C>G c.1362C>G (p.Pro454=) c.1344C>G (p.Pro448=) | dbSNP gnomAD v4 |
22 | g.50697582C>T | CA515254894 | SHANK3 | c.966C>T (p.Pro322=) n.1550C>T c.18C>T (p.Pro6=) c.1323C>T (p.Pro441=) c.19C>T c.1362C>T (p.Pro454=) c.1344C>T (p.Pro448=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697582_50697583insGGG | CA1026687680 | SHANK3 | c.966_967insGGG (p.Pro322_Pro323insGly) n.1550_1551insGGG c.18_19insGGG (p.Pro6_Pro7insGly) c.1323_1324insGGG (p.Pro441_Pro442insGly) c.19_20insGGG c.1362_1363insGGG (p.Pro454_Pro455insGly) c.1344_1345insGGG (p.Pro448_Pro449insGly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697582_50697583insTGAG | CA640359013 | SHANK3 | c.966_967insTGAG (p.Pro323Ter) n.1550_1551insTGAG c.18_19insTGAG (p.Pro7Ter) c.1323_1324insTGAG (p.Pro442Ter) c.19_20insTGAG c.1362_1363insTGAG (p.Pro455Ter) c.1344_1345insTGAG (p.Pro449Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697582_50697583insGGGCGCGG | CA640359014 | SHANK3 | c.966_967insGGGCGCGG (p.Pro323GlyfsTer27) n.1550_1551insGGGCGCGG c.18_19insGGGCGCGG (p.Pro7GlyfsTer27) c.1323_1324insGGGCGCGG (p.Pro442GlyfsTer27) c.19_20insGGGCGCGG c.1362_1363insGGGCGCGG (p.Pro455GlyfsTer27) c.1344_1345insGGGCGCGG (p.Pro449GlyfsTer27) | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697582_50697583insTGAGCGGGCGCGG | CA2657598589 | SHANK3 | c.966_967insTGAGCGGGCGCGG (p.Pro323Ter) n.1550_1551insTGAGCGGGCGCGG c.18_19insTGAGCGGGCGCGG (p.Pro7Ter) c.1323_1324insTGAGCGGGCGCGG (p.Pro442Ter) c.19_20insTGAGCGGGCGCGG c.1362_1363insTGAGCGGGCGCGG (p.Pro455Ter) c.1344_1345insTGAGCGGGCGCGG (p.Pro449Ter) | gnomAD v4 |
22 | g.50697582_50697583insGGGCGCGGCGGCACGG | CA640359012 | SHANK3 | c.966_967insGGGCGCGGCGGCACGG (p.Pro323GlyfsTer?) n.1550_1551insGGGCGCGGCGGCACGG c.18_19insGGGCGCGGCGGCACGG (p.Pro7GlyfsTer?) c.1323_1324insGGGCGCGGCGGCACGG (p.Pro442GlyfsTer?) c.19_20insGGGCGCGGCGGCACGG c.1362_1363insGGGCGCGGCGGCACGG (p.Pro455GlyfsTer?) c.1344_1345insGGGCGCGGCGGCACGG (p.Pro449GlyfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697582_50697583insTGAGCGGGCGGCTCTTCCGATCT | CA2657598591 | SHANK3 | c.966_967insTGAGCGGGCGGCTCTTCCGATCT (p.Pro323Ter) n.1550_1551insTGAGCGGGCGGCTCTTCCGATCT c.18_19insTGAGCGGGCGGCTCTTCCGATCT (p.Pro7Ter) c.1323_1324insTGAGCGGGCGGCTCTTCCGATCT (p.Pro442Ter) c.19_20insTGAGCGGGCGGCTCTTCCGATCT c.1362_1363insTGAGCGGGCGGCTCTTCCGATCT (p.Pro455Ter) c.1344_1345insTGAGCGGGCGGCTCTTCCGATCT (p.Pro449Ter) | gnomAD v4 |
22 | g.50697583C>A | CA515254896 | SHANK3 | c.967C>A (p.Pro323Thr) n.1551C>A c.19C>A (p.Pro7Thr) c.1324C>A (p.Pro442Thr) c.20C>A c.1363C>A (p.Pro455Thr) c.1345C>A (p.Pro449Thr) | dbSNP gnomAD v4 |
22 | g.50697583C= | CA2410995355 | SHANK3 | c.967C= (p.Pro323=) n.1551C= c.19C= (p.Pro7=) c.1324C= (p.Pro442=) c.20C= c.1363C= (p.Pro455=) c.1345C= (p.Pro449=) | |
22 | g.50697583C>G | CA515254897 | SHANK3 | c.967C>G (p.Pro323Ala) n.1551C>G c.19C>G (p.Pro7Ala) c.1324C>G (p.Pro442Ala) c.20C>G c.1363C>G (p.Pro455Ala) c.1345C>G (p.Pro449Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697583C>T | CA515254898 | SHANK3 | c.967C>T (p.Pro323Ser) n.1551C>T c.19C>T (p.Pro7Ser) c.1324C>T (p.Pro442Ser) c.20C>T c.1363C>T (p.Pro455Ser) c.1345C>T (p.Pro449Ser) | gnomAD v4 |
22 | g.50697583_50697584insGGGCG | CA640359015 | SHANK3 | c.967_968insGGGCG (p.Pro323ArgfsTer26) n.1551_1552insGGGCG c.19_20insGGGCG (p.Pro7ArgfsTer26) c.1324_1325insGGGCG (p.Pro442ArgfsTer26) c.20_21insGGGCG c.1363_1364insGGGCG (p.Pro455ArgfsTer26) c.1345_1346insGGGCG (p.Pro449ArgfsTer26) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697583_50697584insGGGCGCGG | CA754138605 | SHANK3 | c.967_968insGGGCGCGG (p.Pro323ArgfsTer27) n.1551_1552insGGGCGCGG c.19_20insGGGCGCGG (p.Pro7ArgfsTer27) c.1324_1325insGGGCGCGG (p.Pro442ArgfsTer27) c.20_21insGGGCGCGG c.1363_1364insGGGCGCGG (p.Pro455ArgfsTer27) c.1345_1346insGGGCGCGG (p.Pro449ArgfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697583_50697584insGCCGCCGGCCTCA | CA2546940119 | SHANK3 | c.967_968insGCCGCCGGCCTCA (p.Pro323ArgfsTer?) n.1551_1552insGCCGCCGGCCTCA c.19_20insGCCGCCGGCCTCA (p.Pro7ArgfsTer?) c.1324_1325insGCCGCCGGCCTCA (p.Pro442ArgfsTer?) c.20_21insGCCGCCGGCCTCA c.1363_1364insGCCGCCGGCCTCA (p.Pro455ArgfsTer?) c.1345_1346insGCCGCCGGCCTCA (p.Pro449ArgfsTer?) | |
22 | g.50697584C>A | CA515254899 | SHANK3 | c.968C>A (p.Pro323His) n.1552C>A c.20C>A (p.Pro7His) c.1325C>A (p.Pro442His) c.21C>A c.1364C>A (p.Pro455His) c.1346C>A (p.Pro449His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697584C= | CA2410995356 | SHANK3 | c.968C= (p.Pro323=) n.1552C= c.20C= (p.Pro7=) c.1325C= (p.Pro442=) c.21C= c.1364C= (p.Pro455=) c.1346C= (p.Pro449=) | |
22 | g.50697584C>G | CA515254900 | SHANK3 | c.968C>G (p.Pro323Arg) n.1552C>G c.20C>G (p.Pro7Arg) c.1325C>G (p.Pro442Arg) c.21C>G c.1364C>G (p.Pro455Arg) c.1346C>G (p.Pro449Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697584C>T | CA515254901 | SHANK3 | c.968C>T (p.Pro323Leu) n.1552C>T c.20C>T (p.Pro7Leu) c.1325C>T (p.Pro442Leu) c.21C>T c.1364C>T (p.Pro455Leu) c.1346C>T (p.Pro449Leu) | gnomAD v4 |
22 | g.50697584_50697585insGG | CA2819325441 | SHANK3 | c.968_969insGG (p.Pro325HisfsTer23) n.1552_1553insGG c.20_21insGG (p.Pro9HisfsTer23) c.1325_1326insGG (p.Pro444HisfsTer23) c.21_22insGG c.1364_1365insGG (p.Pro457HisfsTer23) c.1346_1347insGG (p.Pro451HisfsTer23) | |
22 | g.50697584_50697585insTGAG | CA2657598613 | SHANK3 | c.968_969insTGAG (p.Ala324GlufsTer?) n.1552_1553insTGAG c.20_21insTGAG (p.Ala8GlufsTer?) c.1325_1326insTGAG (p.Ala443GlufsTer?) c.21_22insTGAG c.1364_1365insTGAG (p.Ala456GlufsTer?) c.1346_1347insTGAG (p.Ala450GlufsTer?) | gnomAD v4 |
22 | g.50697585C>A | CA10325520 | SHANK3 | c.969C>A (p.Pro323=) n.1553C>A c.21C>A (p.Pro7=) c.1326C>A (p.Pro442=) c.22C>A c.1365C>A (p.Pro455=) c.1347C>A (p.Pro449=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697585C= | CA2410995357 | SHANK3 | c.969C= (p.Pro323=) n.1553C= c.21C= (p.Pro7=) c.1326C= (p.Pro442=) c.22C= c.1365C= (p.Pro455=) c.1347C= (p.Pro449=) | |
22 | g.50697585C>G | CA515254902 | SHANK3 | c.969C>G (p.Pro323=) n.1553C>G c.21C>G (p.Pro7=) c.1326C>G (p.Pro442=) c.22C>G c.1365C>G (p.Pro455=) c.1347C>G (p.Pro449=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697585C>T | CA515254903 | SHANK3 | c.969C>T (p.Pro323=) n.1553C>T c.21C>T (p.Pro7=) c.1326C>T (p.Pro442=) c.22C>T c.1365C>T (p.Pro455=) c.1347C>T (p.Pro449=) | dbSNP gnomAD v4 |
22 | g.50697585_50697586insATGGAGCG | CA640359016 | SHANK3 | c.969_970insATGGAGCG (p.Ala324MetfsTer26) n.1553_1554insATGGAGCG c.21_22insATGGAGCG (p.Ala8MetfsTer26) c.1326_1327insATGGAGCG (p.Ala443MetfsTer26) c.22_23insATGGAGCG c.1365_1366insATGGAGCG (p.Ala456MetfsTer26) c.1347_1348insATGGAGCG (p.Ala450MetfsTer26) | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697586del | CA2657598629 | SHANK3 | c.970del (p.Ala324HisfsTer23) n.1554del c.22del (p.Ala8HisfsTer23) c.1327del (p.Ala443HisfsTer23) c.23del c.1366del (p.Ala456HisfsTer23) c.1348del (p.Ala450HisfsTer23) | gnomAD v4 |
22 | g.50697586G>A | CA325553892 | SHANK3 | c.970G>A (p.Ala324Thr) n.1554G>A c.22G>A (p.Ala8Thr) c.1327G>A (p.Ala443Thr) c.23G>A c.1366G>A (p.Ala456Thr) c.1348G>A (p.Ala450Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.50697586G>C | CA515254904 | SHANK3 | c.970G>C (p.Ala324Pro) n.1554G>C c.22G>C (p.Ala8Pro) c.1327G>C (p.Ala443Pro) c.23G>C c.1366G>C (p.Ala456Pro) c.1348G>C (p.Ala450Pro) | gnomAD v4 |
22 | g.50697586G= | CA2410995358 | SHANK3 | c.970G= (p.Ala324=) n.1554G= c.22G= (p.Ala8=) c.1327G= (p.Ala443=) c.23G= c.1366G= (p.Ala456=) c.1348G= (p.Ala450=) | |
22 | g.50697586G>T | CA515254906 | SHANK3 | c.970G>T (p.Ala324Ser) n.1554G>T c.22G>T (p.Ala8Ser) c.1327G>T (p.Ala443Ser) c.23G>T c.1366G>T (p.Ala456Ser) c.1348G>T (p.Ala450Ser) | gnomAD v4 |
22 | g.50697586_50697587insGG | CA2819325442 | SHANK3 | c.970_971insGG (p.Ala324GlyfsTer24) n.1554_1555insGG c.22_23insGG (p.Ala8GlyfsTer24) c.1327_1328insGG (p.Ala443GlyfsTer24) c.23_24insGG c.1366_1367insGG (p.Ala456GlyfsTer24) c.1348_1349insGG (p.Ala450GlyfsTer24) | |
22 | g.50697587C>A | CA515254909 | SHANK3 | c.971C>A (p.Ala324Glu) n.1555C>A c.23C>A (p.Ala8Glu) c.1328C>A (p.Ala443Glu) c.24C>A c.1367C>A (p.Ala456Glu) c.1349C>A (p.Ala450Glu) | gnomAD v4 |
22 | g.50697587C>G | CA515254908 | SHANK3 | c.971C>G (p.Ala324Gly) n.1555C>G c.23C>G (p.Ala8Gly) c.1328C>G (p.Ala443Gly) c.24C>G c.1367C>G (p.Ala456Gly) c.1349C>G (p.Ala450Gly) | |
22 | g.50697587C>T | CA515254907 | SHANK3 | c.971C>T (p.Ala324Val) n.1555C>T c.23C>T (p.Ala8Val) c.1328C>T (p.Ala443Val) c.24C>T c.1367C>T (p.Ala456Val) c.1349C>T (p.Ala450Val) | gnomAD v4 |
22 | g.50697587_50697590del | CA2657598633 | SHANK3 | c.971_974del (p.Ala324GlyfsTer22) n.1555_1558del c.23_26del (p.Ala8GlyfsTer22) c.1328_1331del (p.Ala443GlyfsTer22) c.24_27del c.1367_1370del (p.Ala456GlyfsTer22) c.1349_1352del (p.Ala450GlyfsTer22) | gnomAD v4 |
22 | g.50697588_50697590del | CA2657598632 | SHANK3 | c.972_974del (p.Pro325del) n.1556_1558del c.24_26del (p.Pro9del) c.1329_1331del (p.Pro444del) c.25_27del c.1368_1370del (p.Pro457del) c.1350_1352del (p.Pro451del) | gnomAD v4 |
22 | g.50697588del | CA2577768311 | SHANK3 | c.972del (p.Pro325ArgfsTer22) n.1556del c.24del (p.Pro9ArgfsTer22) c.1329del (p.Pro444ArgfsTer22) c.25del c.1368del (p.Pro457ArgfsTer22) c.1350del (p.Pro451ArgfsTer22) | |
22 | g.50697588A= | CA2410995359 | SHANK3 | c.972A= (p.Ala324=) n.1556A= c.24A= (p.Ala8=) c.1329A= (p.Ala443=) c.25A= c.1368A= (p.Ala456=) c.1350A= (p.Ala450=) | |
22 | g.50697588A>C | CA515254913 | SHANK3 | c.972A>C (p.Ala324=) n.1556A>C c.24A>C (p.Ala8=) c.1329A>C (p.Ala443=) c.25A>C c.1368A>C (p.Ala456=) c.1350A>C (p.Ala450=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697588A>G | CA515254911 | SHANK3 | c.972A>G (p.Ala324=) n.1556A>G c.24A>G (p.Ala8=) c.1329A>G (p.Ala443=) c.25A>G c.1368A>G (p.Ala456=) c.1350A>G (p.Ala450=) | gnomAD v3 gnomAD v4 |
22 | g.50697588A>T | CA515254912 | SHANK3 | c.972A>T (p.Ala324=) n.1556A>T c.24A>T (p.Ala8=) c.1329A>T (p.Ala443=) c.25A>T c.1368A>T (p.Ala456=) c.1350A>T (p.Ala450=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697588_50697593delinsACCGCC | CA2410995360 | SHANK3 | c.972_977delinsACCGCC (p.Ala324=) n.1556_1561delinsACCGCC c.24_29delinsACCGCC (p.Ala8=) c.1329_1334delinsACCGCC (p.Ala443=) c.25_30delinsACCGCC c.1368_1373delinsACCGCC (p.Ala456=) c.1350_1355delinsACCGCC (p.Ala450=) | |
22 | g.50697588_50697599del | CA2819325443 | SHANK3 | c.972_983del (p.Pro325_Arg328del) n.1556_1567del c.24_35del (p.Pro9_Arg12del) c.1329_1340del (p.Pro444_Arg447del) c.25_36del c.1368_1379del (p.Pro457_Arg460del) c.1350_1361del (p.Pro451_Arg454del) | |
22 | g.50697588_50697589insGCCGCCGCCGCAGCGCCCGCCGCC | CA2544619070 | SHANK3 | c.972_973insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala324_Pro325insAlaAlaAlaAlaAlaProAlaAla) n.1556_1557insGCCGCCGCCGCAGCGCCCGCCGCC c.24_25insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala8_Pro9insAlaAlaAlaAlaAlaProAlaAla) c.1329_1330insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala443_Pro444insAlaAlaAlaAlaAlaProAlaAla) c.25_26insGCCGCCGCCGCAGCGCCCGCCGCC c.1368_1369insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala456_Pro457insAlaAlaAlaAlaAlaProAlaAla) c.1350_1351insGCCGCCGCCGCAGCGCCCGCCGCC (p.Ala450_Pro451insAlaAlaAlaAlaAlaProAlaAla) | |
22 | g.50697589C>A | CA515254914 | SHANK3 | c.973C>A (p.Pro325Thr) n.1557C>A c.25C>A (p.Pro9Thr) c.1330C>A (p.Pro444Thr) c.26C>A c.1369C>A (p.Pro457Thr) c.1351C>A (p.Pro451Thr) | gnomAD v4 |
22 | g.50697589C= | CA2410995361 | SHANK3 | c.973C= (p.Pro325=) n.1557C= c.25C= (p.Pro9=) c.1330C= (p.Pro444=) c.26C= c.1369C= (p.Pro457=) c.1351C= (p.Pro451=) | |
22 | g.50697589C>G | CA515254915 | SHANK3 | c.973C>G (p.Pro325Ala) n.1557C>G c.25C>G (p.Pro9Ala) c.1330C>G (p.Pro444Ala) c.26C>G c.1369C>G (p.Pro457Ala) c.1351C>G (p.Pro451Ala) | gnomAD v4 |
22 | g.50697589C>T | CA515254916 | SHANK3 | c.973C>T (p.Pro325Ser) n.1557C>T c.25C>T (p.Pro9Ser) c.1330C>T (p.Pro444Ser) c.26C>T c.1369C>T (p.Pro457Ser) c.1351C>T (p.Pro451Ser) | dbSNP gnomAD v4 COSMIC |
22 | g.50697589_50697590del | CA2819325444 | SHANK3 | c.973_974del (p.Pro325AlafsTer29) n.1557_1558del c.25_26del (p.Pro9AlafsTer29) c.1330_1331del (p.Pro444AlafsTer29) c.26_27del c.1369_1370del (p.Pro457AlafsTer29) c.1351_1352del (p.Pro451AlafsTer29) | |
22 | g.50697589_50697593del | CA1026687697 | SHANK3 | c.973_977del (p.Pro325AlafsTer28) n.1557_1561del c.25_29del (p.Pro9AlafsTer28) c.1330_1334del (p.Pro444AlafsTer28) c.26_30del c.1369_1373del (p.Pro457AlafsTer28) c.1351_1355del (p.Pro451AlafsTer28) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697594_50697596del | CA2657598643 | SHANK3 | c.978_980del (p.Pro327del) n.1562_1564del c.30_32del (p.Pro11del) c.1335_1337del (p.Pro446del) c.31_33del c.1374_1376del (p.Pro459del) c.1356_1358del (p.Pro453del) | gnomAD v4 |
22 | g.50697592_50697599del | CA2524555614 | SHANK3 | c.976_983del (p.Pro326GlyfsTer26) n.1560_1567del c.28_35del (p.Pro10GlyfsTer26) c.1333_1340del (p.Pro445GlyfsTer26) c.29_36del c.1372_1379del (p.Pro458GlyfsTer26) c.1354_1361del (p.Pro452GlyfsTer26) | |
22 | g.50697589_50697590insGTG | CA640359017 | SHANK3 | c.973_974insGTG (p.Pro325delinsArgAla) n.1557_1558insGTG c.25_26insGTG (p.Pro9delinsArgAla) c.1330_1331insGTG (p.Pro444delinsArgAla) c.26_27insGTG c.1369_1370insGTG (p.Pro457delinsArgAla) c.1351_1352insGTG (p.Pro451delinsArgAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697590C>A | CA515254919 | SHANK3 | c.974C>A (p.Pro325Gln) n.1558C>A c.26C>A (p.Pro9Gln) c.1331C>A (p.Pro444Gln) c.27C>A c.1370C>A (p.Pro457Gln) c.1352C>A (p.Pro451Gln) | gnomAD v4 |
22 | g.50697590C= | CA2410995362 | SHANK3 | c.974C= (p.Pro325=) n.1558C= c.26C= (p.Pro9=) c.1331C= (p.Pro444=) c.27C= c.1370C= (p.Pro457=) c.1352C= (p.Pro451=) | |
22 | g.50697590C>G | CA515254918 | SHANK3 | c.974C>G (p.Pro325Arg) n.1558C>G c.26C>G (p.Pro9Arg) c.1331C>G (p.Pro444Arg) c.27C>G c.1370C>G (p.Pro457Arg) c.1352C>G (p.Pro451Arg) | gnomAD v3 gnomAD v4 |
22 | g.50697590C>T | CA515254917 | SHANK3 | c.974C>T (p.Pro325Leu) n.1558C>T c.26C>T (p.Pro9Leu) c.1331C>T (p.Pro444Leu) c.27C>T c.1370C>T (p.Pro457Leu) c.1352C>T (p.Pro451Leu) | ClinVar dbSNP gnomAD v4 |
22 | g.50697591del | CA2657598654 | SHANK3 | c.975del (p.Pro326ArgfsTer21) n.1559del c.27del (p.Pro10ArgfsTer21) c.1332del (p.Pro445ArgfsTer21) c.28del c.1371del (p.Pro458ArgfsTer21) c.1353del (p.Pro452ArgfsTer21) | gnomAD v4 |
22 | g.50697591G>A | CA325553894 | SHANK3 | c.975G>A (p.Pro325=) n.1559G>A c.27G>A (p.Pro9=) c.1332G>A (p.Pro444=) c.28G>A c.1371G>A (p.Pro457=) c.1353G>A (p.Pro451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697591G>C | CA515254920 | SHANK3 | c.975G>C (p.Pro325=) n.1559G>C c.27G>C (p.Pro9=) c.1332G>C (p.Pro444=) c.28G>C c.1371G>C (p.Pro457=) c.1353G>C (p.Pro451=) | gnomAD v4 |
22 | g.50697591G= | CA2410995363 | SHANK3 | c.975G= (p.Pro325=) n.1559G= c.27G= (p.Pro9=) c.1332G= (p.Pro444=) c.28G= c.1371G= (p.Pro457=) c.1353G= (p.Pro451=) | |
22 | g.50697591G>T | CA515254921 | SHANK3 | c.975G>T (p.Pro325=) n.1559G>T c.27G>T (p.Pro9=) c.1332G>T (p.Pro444=) c.28G>T c.1371G>T (p.Pro457=) c.1353G>T (p.Pro451=) | gnomAD v4 |
22 | g.50697591_50697592insGG | CA640359018 | SHANK3 | c.975_976insGG (p.Pro326GlyfsTer22) n.1559_1560insGG c.27_28insGG (p.Pro10GlyfsTer22) c.1332_1333insGG (p.Pro445GlyfsTer22) c.28_29insGG c.1371_1372insGG (p.Pro458GlyfsTer22) c.1353_1354insGG (p.Pro452GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697592C>A | CA515254922 | SHANK3 | c.976C>A (p.Pro326Thr) n.1560C>A c.28C>A (p.Pro10Thr) c.1333C>A (p.Pro445Thr) c.29C>A c.1372C>A (p.Pro458Thr) c.1354C>A (p.Pro452Thr) | gnomAD v4 |
22 | g.50697592C= | CA2410995364 | SHANK3 | c.976C= (p.Pro326=) n.1560C= c.28C= (p.Pro10=) c.1333C= (p.Pro445=) c.29C= c.1372C= (p.Pro458=) c.1354C= (p.Pro452=) | |
22 | g.50697592C>G | CA515254923 | SHANK3 | c.976C>G (p.Pro326Ala) n.1560C>G c.28C>G (p.Pro10Ala) c.1333C>G (p.Pro445Ala) c.29C>G c.1372C>G (p.Pro458Ala) c.1354C>G (p.Pro452Ala) | gnomAD v4 |
22 | g.50697592C>T | CA515254924 | SHANK3 | c.976C>T (p.Pro326Ser) n.1560C>T c.28C>T (p.Pro10Ser) c.1333C>T (p.Pro445Ser) c.29C>T c.1372C>T (p.Pro458Ser) c.1354C>T (p.Pro452Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697592_50697593insT | CA1026687714 | SHANK3 | c.976_977insT (p.Pro326LeufsTer29) n.1560_1561insT c.28_29insT (p.Pro10LeufsTer29) c.1333_1334insT (p.Pro445LeufsTer29) c.29_30insT c.1372_1373insT (p.Pro458LeufsTer29) c.1354_1355insT (p.Pro452LeufsTer29) | gnomAD v3 gnomAD v4 |
22 | g.50697592_50697593insTCGTG | CA2526389926 | SHANK3 | c.976_977insTCGTG (p.Pro326LeufsTer23) n.1560_1561insTCGTG c.28_29insTCGTG (p.Pro10LeufsTer23) c.1333_1334insTCGTG (p.Pro445LeufsTer23) c.29_30insTCGTG c.1372_1373insTCGTG (p.Pro458LeufsTer23) c.1354_1355insTCGTG (p.Pro452LeufsTer23) | |
22 | g.50697592_50697593insTGGCGGGAG | CA640359019 | SHANK3 | c.976_977insTGGCGGGAG (p.Pro326delinsLeuAlaGlyAla) n.1560_1561insTGGCGGGAG c.28_29insTGGCGGGAG (p.Pro10delinsLeuAlaGlyAla) c.1333_1334insTGGCGGGAG (p.Pro445delinsLeuAlaGlyAla) c.29_30insTGGCGGGAG c.1372_1373insTGGCGGGAG (p.Pro458delinsLeuAlaGlyAla) c.1354_1355insTGGCGGGAG (p.Pro452delinsLeuAlaGlyAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697592_50697593insTGGCGGGAGCGGGCCGGG | CA2819325445 | SHANK3 | c.976_977insTGGCGGGAGCGGGCCGGG (p.Pro326delinsLeuAlaGlyAlaGlyArgAla) n.1560_1561insTGGCGGGAGCGGGCCGGG c.28_29insTGGCGGGAGCGGGCCGGG (p.Pro10delinsLeuAlaGlyAlaGlyArgAla) c.1333_1334insTGGCGGGAGCGGGCCGGG (p.Pro445delinsLeuAlaGlyAlaGlyArgAla) c.29_30insTGGCGGGAGCGGGCCGGG c.1372_1373insTGGCGGGAGCGGGCCGGG (p.Pro458delinsLeuAlaGlyAlaGlyArgAla) c.1354_1355insTGGCGGGAGCGGGCCGGG (p.Pro452delinsLeuAlaGlyAlaGlyArgAla) | |
22 | g.50697593C>A | CA515254925 | SHANK3 | c.977C>A (p.Pro326Gln) n.1561C>A c.29C>A (p.Pro10Gln) c.1334C>A (p.Pro445Gln) c.30C>A c.1373C>A (p.Pro458Gln) c.1355C>A (p.Pro452Gln) | gnomAD v4 |
22 | g.50697593C= | CA2410995365 | SHANK3 | c.977C= (p.Pro326=) n.1561C= c.29C= (p.Pro10=) c.1334C= (p.Pro445=) c.30C= c.1373C= (p.Pro458=) c.1355C= (p.Pro452=) | |
22 | g.50697593C>G | CA515254926 | SHANK3 | c.977C>G (p.Pro326Arg) n.1561C>G c.29C>G (p.Pro10Arg) c.1334C>G (p.Pro445Arg) c.30C>G c.1373C>G (p.Pro458Arg) c.1355C>G (p.Pro452Arg) | gnomAD v4 |
22 | g.50697593C>T | CA325553900 | SHANK3 | c.977C>T (p.Pro326Leu) n.1561C>T c.29C>T (p.Pro10Leu) c.1334C>T (p.Pro445Leu) c.30C>T c.1373C>T (p.Pro458Leu) c.1355C>T (p.Pro452Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697594_50697595del | CA2657598663 | SHANK3 | c.978_979del (p.Arg328GlyfsTer26) n.1562_1563del c.30_31del (p.Arg12GlyfsTer26) c.1335_1336del (p.Arg447GlyfsTer26) c.31_32del c.1374_1375del (p.Arg460GlyfsTer26) c.1356_1357del (p.Arg454GlyfsTer26) | gnomAD v4 |
22 | g.50697594del | CA2657598669 | SHANK3 | c.978del (p.Arg328GlyfsTer19) n.1562del c.30del (p.Arg12GlyfsTer19) c.1335del (p.Arg447GlyfsTer19) c.31del c.1374del (p.Arg460GlyfsTer19) c.1356del (p.Arg454GlyfsTer19) | gnomAD v4 |
22 | g.50697594G>A | CA515254928 | SHANK3 | c.978G>A (p.Pro326=) n.1562G>A c.30G>A (p.Pro10=) c.1335G>A (p.Pro445=) c.31G>A c.1374G>A (p.Pro458=) c.1356G>A (p.Pro452=) | gnomAD v3 gnomAD v4 |
22 | g.50697594G>C | CA515254929 | SHANK3 | c.978G>C (p.Pro326=) n.1562G>C c.30G>C (p.Pro10=) c.1335G>C (p.Pro445=) c.31G>C c.1374G>C (p.Pro458=) c.1356G>C (p.Pro452=) | gnomAD v4 |
22 | g.50697594G= | CA2410995366 | SHANK3 | c.978G= (p.Pro326=) n.1562G= c.30G= (p.Pro10=) c.1335G= (p.Pro445=) c.31G= c.1374G= (p.Pro458=) c.1356G= (p.Pro452=) | |
22 | g.50697594G>T | CA515254930 | SHANK3 | c.978G>T (p.Pro326=) n.1562G>T c.30G>T (p.Pro10=) c.1335G>T (p.Pro445=) c.31G>T c.1374G>T (p.Pro458=) c.1356G>T (p.Pro452=) | gnomAD v4 |
22 | g.50697594_50697595insGG | CA1026687719 | SHANK3 | c.978_979insGG (p.Pro327GlyfsTer21) n.1562_1563insGG c.30_31insGG (p.Pro11GlyfsTer21) c.1335_1336insGG (p.Pro446GlyfsTer21) c.31_32insGG c.1374_1375insGG (p.Pro459GlyfsTer21) c.1356_1357insGG (p.Pro453GlyfsTer21) | gnomAD v3 gnomAD v4 |
22 | g.50697594_50697595insTG | CA1026687724 | SHANK3 | c.978_979insTG (p.Pro327CysfsTer21) n.1562_1563insTG c.30_31insTG (p.Pro11CysfsTer21) c.1335_1336insTG (p.Pro446CysfsTer21) c.31_32insTG c.1374_1375insTG (p.Pro459CysfsTer21) c.1356_1357insTG (p.Pro453CysfsTer21) | gnomAD v3 gnomAD v4 |
22 | g.50697594_50697695del | CA2819325446 | SHANK3 | c.978_1079del (p.Pro327_His360del) n.1562_1663del c.30_131del (p.Pro11_His44del) c.1335_1436del (p.Pro446_His479del) c.31_132del c.1374_1475del (p.Pro459_His492del) c.1356_1457del (p.Pro453_His486del) | |
22 | g.50697594_50697595insGGC | CA640359020 | SHANK3 | c.978_979insGGC (p.Pro326_Pro327insGly) n.1562_1563insGGC c.30_31insGGC (p.Pro10_Pro11insGly) c.1335_1336insGGC (p.Pro445_Pro446insGly) c.31_32insGGC c.1374_1375insGGC (p.Pro458_Pro459insGly) c.1356_1357insGGC (p.Pro452_Pro453insGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697595C>A | CA515254931 | SHANK3 | c.979C>A (p.Pro327Thr) n.1563C>A c.31C>A (p.Pro11Thr) c.1336C>A (p.Pro446Thr) c.32C>A c.1375C>A (p.Pro459Thr) c.1357C>A (p.Pro453Thr) | gnomAD v4 |
22 | g.50697595C= | CA2410995367 | SHANK3 | c.979C= (p.Pro327=) n.1563C= c.31C= (p.Pro11=) c.1336C= (p.Pro446=) c.32C= c.1375C= (p.Pro459=) c.1357C= (p.Pro453=) | |
22 | g.50697595C>G | CA515254932 | SHANK3 | c.979C>G (p.Pro327Ala) n.1563C>G c.31C>G (p.Pro11Ala) c.1336C>G (p.Pro446Ala) c.32C>G c.1375C>G (p.Pro459Ala) c.1357C>G (p.Pro453Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697595C>T | CA515254933 | SHANK3 | c.979C>T (p.Pro327Ser) n.1563C>T c.31C>T (p.Pro11Ser) c.1336C>T (p.Pro446Ser) c.32C>T c.1375C>T (p.Pro459Ser) c.1357C>T (p.Pro453Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697598del | CA2577768312 | SHANK3 | c.982del (p.Arg328GlyfsTer19) n.1566del c.34del (p.Arg12GlyfsTer19) c.1339del (p.Arg447GlyfsTer19) c.35del c.1378del (p.Arg460GlyfsTer19) c.1360del (p.Arg454GlyfsTer19) | gnomAD v4 |
22 | g.50697595_50697596insGGCGG | CA2819325447 | SHANK3 | c.979_980insGGCGG (p.Pro327ArgfsTer22) n.1563_1564insGGCGG c.31_32insGGCGG (p.Pro11ArgfsTer22) c.1336_1337insGGCGG (p.Pro446ArgfsTer22) c.32_33insGGCGG c.1375_1376insGGCGG (p.Pro459ArgfsTer22) c.1357_1358insGGCGG (p.Pro453ArgfsTer22) | |
22 | g.50697595_50697596insTGGCGGGAGCGGG | CA2564055433 | SHANK3 | c.979_980insTGGCGGGAGCGGG (p.Pro327LeufsTer32) n.1563_1564insTGGCGGGAGCGGG c.31_32insTGGCGGGAGCGGG (p.Pro11LeufsTer32) c.1336_1337insTGGCGGGAGCGGG (p.Pro446LeufsTer32) c.32_33insTGGCGGGAGCGGG c.1375_1376insTGGCGGGAGCGGG (p.Pro459LeufsTer32) c.1357_1358insTGGCGGGAGCGGG (p.Pro453LeufsTer32) | |
22 | g.50697596C>A | CA515254934 | SHANK3 | c.980C>A (p.Pro327His) n.1564C>A c.32C>A (p.Pro11His) c.1337C>A (p.Pro446His) c.33C>A c.1376C>A (p.Pro459His) c.1358C>A (p.Pro453His) | gnomAD v4 |
22 | g.50697596C= | CA2410995368 | SHANK3 | c.980C= (p.Pro327=) n.1564C= c.32C= (p.Pro11=) c.1337C= (p.Pro446=) c.33C= c.1376C= (p.Pro459=) c.1358C= (p.Pro453=) | |
22 | g.50697596C>G | CA515254935 | SHANK3 | c.980C>G (p.Pro327Arg) n.1564C>G c.32C>G (p.Pro11Arg) c.1337C>G (p.Pro446Arg) c.33C>G c.1376C>G (p.Pro459Arg) c.1358C>G (p.Pro453Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697596C>T | CA515254936 | SHANK3 | c.980C>T (p.Pro327Leu) n.1564C>T c.32C>T (p.Pro11Leu) c.1337C>T (p.Pro446Leu) c.33C>T c.1376C>T (p.Pro459Leu) c.1358C>T (p.Pro453Leu) | gnomAD v4 |
22 | g.50697596_50697600del | CA2657598678 | SHANK3 | c.980_984del (p.Pro327ArgfsTer26) n.1564_1568del c.32_36del (p.Pro11ArgfsTer26) c.1337_1341del (p.Pro446ArgfsTer26) c.33_37del c.1376_1380del (p.Pro459ArgfsTer26) c.1358_1362del (p.Pro453ArgfsTer26) | gnomAD v4 |
22 | g.50697597C>A | CA515254937 | SHANK3 | c.981C>A (p.Pro327=) n.1565C>A c.33C>A (p.Pro11=) c.1338C>A (p.Pro446=) c.34C>A c.1377C>A (p.Pro459=) c.1359C>A (p.Pro453=) | gnomAD v4 |
22 | g.50697597C>G | CA515254938 | SHANK3 | c.981C>G (p.Pro327=) n.1565C>G c.33C>G (p.Pro11=) c.1338C>G (p.Pro446=) c.34C>G c.1377C>G (p.Pro459=) c.1359C>G (p.Pro453=) | |
22 | g.50697597C>T | CA515254939 | SHANK3 | c.981C>T (p.Pro327=) n.1565C>T c.33C>T (p.Pro11=) c.1338C>T (p.Pro446=) c.34C>T c.1377C>T (p.Pro459=) c.1359C>T (p.Pro453=) | gnomAD v4 |
22 | g.50697597_50697598insGTG | CA2657598689 | SHANK3 | c.981_982insGTG (p.Pro327_Arg328insVal) n.1565_1566insGTG c.33_34insGTG (p.Pro11_Arg12insVal) c.1338_1339insGTG (p.Pro446_Arg447insVal) c.34_35insGTG c.1377_1378insGTG (p.Pro459_Arg460insVal) c.1359_1360insGTG (p.Pro453_Arg454insVal) | gnomAD v4 |
22 | g.50697597_50697598insTGG | CA1026687736 | SHANK3 | c.981_982insTGG (p.Pro327_Arg328insTrp) n.1565_1566insTGG c.33_34insTGG (p.Pro11_Arg12insTrp) c.1338_1339insTGG (p.Pro446_Arg447insTrp) c.34_35insTGG c.1377_1378insTGG (p.Pro459_Arg460insTrp) c.1359_1360insTGG (p.Pro453_Arg454insTrp) | gnomAD v3 gnomAD v4 |
22 | g.50697597_50697598insGGGCG | CA2561017072 | SHANK3 | c.981_982insGGGCG (p.Arg328GlyfsTer21) n.1565_1566insGGGCG c.33_34insGGGCG (p.Arg12GlyfsTer21) c.1338_1339insGGGCG (p.Arg447GlyfsTer21) c.34_35insGGGCG c.1377_1378insGGGCG (p.Arg460GlyfsTer21) c.1359_1360insGGGCG (p.Arg454GlyfsTer21) | |
22 | g.50697598C>A | CA515254941 | SHANK3 | c.982C>A (p.Arg328=) n.1566C>A c.34C>A (p.Arg12=) c.1339C>A (p.Arg447=) c.35C>A c.1378C>A (p.Arg460=) c.1360C>A (p.Arg454=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697598C= | CA2410995369 | SHANK3 | c.982C= (p.Arg328=) n.1566C= c.34C= (p.Arg12=) c.1339C= (p.Arg447=) c.35C= c.1378C= (p.Arg460=) c.1360C= (p.Arg454=) | |
22 | g.50697598C>G | CA325553906 | SHANK3 | c.982C>G (p.Arg328Gly) n.1566C>G c.34C>G (p.Arg12Gly) c.1339C>G (p.Arg447Gly) c.35C>G c.1378C>G (p.Arg460Gly) c.1360C>G (p.Arg454Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697598C>T | CA515254940 | SHANK3 | c.982C>T (p.Arg328Trp) n.1566C>T c.34C>T (p.Arg12Trp) c.1339C>T (p.Arg447Trp) c.35C>T c.1378C>T (p.Arg460Trp) c.1360C>T (p.Arg454Trp) | gnomAD v4 |
22 | g.50697603_50697604insGGCGGTGCGGGGC | CA2657598690 | SHANK3 | c.987_988insGGCGGTGCGGGGC (p.Pro330GlyfsTer29) n.1571_1572insGGCGGTGCGGGGC c.39_40insGGCGGTGCGGGGC (p.Pro14GlyfsTer29) c.1344_1345insGGCGGTGCGGGGC (p.Pro449GlyfsTer29) c.40_41insGGCGGTGCGGGGC c.1383_1384insGGCGGTGCGGGGC (p.Pro462GlyfsTer29) c.1365_1366insGGCGGTGCGGGGC (p.Pro456GlyfsTer29) | gnomAD v4 |
22 | g.50697598_50697599insA | CA2657598694 | SHANK3 | c.982_983insA (p.Arg328GlnfsTer27) n.1566_1567insA c.34_35insA (p.Arg12GlnfsTer27) c.1339_1340insA (p.Arg447GlnfsTer27) c.35_36insA c.1378_1379insA (p.Arg460GlnfsTer27) c.1360_1361insA (p.Arg454GlnfsTer27) | gnomAD v4 |
22 | g.50697598_50697599insT | CA2657598696 | SHANK3 | c.982_983insT (p.Arg328LeufsTer27) n.1566_1567insT c.34_35insT (p.Arg12LeufsTer27) c.1339_1340insT (p.Arg447LeufsTer27) c.35_36insT c.1378_1379insT (p.Arg460LeufsTer27) c.1360_1361insT (p.Arg454LeufsTer27) | gnomAD v4 |
22 | g.50697598_50697599insCGGCGGGCAGGCGGGCGGCGGTGCG | CA1026687739 | SHANK3 | c.982_983insCGGCGGGCAGGCGGGCGGCGGTGCG (p.Arg328ProfsTer35) n.1566_1567insCGGCGGGCAGGCGGGCGGCGGTGCG c.34_35insCGGCGGGCAGGCGGGCGGCGGTGCG (p.Arg12ProfsTer35) c.1339_1340insCGGCGGGCAGGCGGGCGGCGGTGCG (p.Arg447ProfsTer35) c.35_36insCGGCGGGCAGGCGGGCGGCGGTGCG c.1378_1379insCGGCGGGCAGGCGGGCGGCGGTGCG (p.Arg460ProfsTer35) c.1360_1361insCGGCGGGCAGGCGGGCGGCGGTGCG (p.Arg454ProfsTer35) | gnomAD v3 gnomAD v4 |
22 | g.50697599G>A | CA515254942 | SHANK3 | c.983G>A (p.Arg328Gln) n.1567G>A c.35G>A (p.Arg12Gln) c.1340G>A (p.Arg447Gln) c.36G>A c.1379G>A (p.Arg460Gln) c.1361G>A (p.Arg454Gln) | gnomAD v3 gnomAD v4 |
22 | g.50697599G>C | CA515254943 | SHANK3 | c.983G>C (p.Arg328Pro) n.1567G>C c.35G>C (p.Arg12Pro) c.1340G>C (p.Arg447Pro) c.36G>C c.1379G>C (p.Arg460Pro) c.1361G>C (p.Arg454Pro) | dbSNP gnomAD v4 |
22 | g.50697599G= | CA2410995370 | SHANK3 | c.983G= (p.Arg328=) n.1567G= c.35G= (p.Arg12=) c.1340G= (p.Arg447=) c.36G= c.1379G= (p.Arg460=) c.1361G= (p.Arg454=) | |
22 | g.50697599G>T | CA515254944 | SHANK3 | c.983G>T (p.Arg328Leu) n.1567G>T c.35G>T (p.Arg12Leu) c.1340G>T (p.Arg447Leu) c.36G>T c.1379G>T (p.Arg460Leu) c.1361G>T (p.Arg454Leu) | gnomAD v4 |
22 | g.50697602dup | CA2657598695 | SHANK3 | c.986dup (p.Lys331GlufsTer24) n.1570dup c.38dup (p.Lys15GlufsTer24) c.1343dup (p.Lys450GlufsTer24) c.39dup c.1382dup (p.Lys463GlufsTer24) c.1364dup (p.Lys457GlufsTer24) | gnomAD v4 |
22 | g.50697602del | CA2657598698 | SHANK3 | c.986del (p.Gly329AlafsTer18) n.1570del c.38del (p.Gly13AlafsTer18) c.1343del (p.Gly448AlafsTer18) c.39del c.1382del (p.Gly461AlafsTer18) c.1364del (p.Gly455AlafsTer18) | gnomAD v4 |
22 | g.50697601_50697602del | CA2840532445 | SHANK3 | c.985_986del (p.Gly329ProfsTer25) n.1569_1570del c.37_38del (p.Gly13ProfsTer25) c.1342_1343del (p.Gly448ProfsTer25) c.38_39del c.1381_1382del (p.Gly461ProfsTer25) c.1363_1364del (p.Gly455ProfsTer25) | |
22 | g.50697599_50697600insCT | CA2657598711 | SHANK3 | c.983_984insCT (p.Gly329TrpfsTer19) n.1567_1568insCT c.35_36insCT (p.Gly13TrpfsTer19) c.1340_1341insCT (p.Gly448TrpfsTer19) c.36_37insCT c.1379_1380insCT (p.Gly461TrpfsTer19) c.1361_1362insCT (p.Gly455TrpfsTer19) | gnomAD v4 |
22 | g.50697600G>A | CA515254945 | SHANK3 | c.984G>A (p.Arg328=) n.1568G>A c.36G>A (p.Arg12=) c.1341G>A (p.Arg447=) c.37G>A c.1380G>A (p.Arg460=) c.1362G>A (p.Arg454=) | gnomAD v4 |
22 | g.50697600G>C | CA515254946 | SHANK3 | c.984G>C (p.Arg328=) n.1568G>C c.36G>C (p.Arg12=) c.1341G>C (p.Arg447=) c.37G>C c.1380G>C (p.Arg460=) c.1362G>C (p.Arg454=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697600G= | CA2410995371 | SHANK3 | c.984G= (p.Arg328=) n.1568G= c.36G= (p.Arg12=) c.1341G= (p.Arg447=) c.37G= c.1380G= (p.Arg460=) c.1362G= (p.Arg454=) | |
22 | g.50697600G>T | CA515254947 | SHANK3 | c.984G>T (p.Arg328=) n.1568G>T c.36G>T (p.Arg12=) c.1341G>T (p.Arg447=) c.37G>T c.1380G>T (p.Arg460=) c.1362G>T (p.Arg454=) | gnomAD v4 |
22 | g.50697600_50697601insCG | CA640359021 | SHANK3 | c.984_985insCG (p.Gly329ArgfsTer19) n.1568_1569insCG c.36_37insCG (p.Gly13ArgfsTer19) c.1341_1342insCG (p.Gly448ArgfsTer19) c.37_38insCG c.1380_1381insCG (p.Gly461ArgfsTer19) c.1362_1363insCG (p.Gly455ArgfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697601G>A | CA515254950 | SHANK3 | c.985G>A (p.Gly329Ser) n.1569G>A c.37G>A (p.Gly13Ser) c.1342G>A (p.Gly448Ser) c.38G>A c.1381G>A (p.Gly461Ser) c.1363G>A (p.Gly455Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697601G>C | CA515254949 | SHANK3 | c.985G>C (p.Gly329Arg) n.1569G>C c.37G>C (p.Gly13Arg) c.1342G>C (p.Gly448Arg) c.38G>C c.1381G>C (p.Gly461Arg) c.1363G>C (p.Gly455Arg) | gnomAD v4 |
22 | g.50697601G>T | CA515254948 | SHANK3 | c.985G>T (p.Gly329Cys) n.1569G>T c.37G>T (p.Gly13Cys) c.1342G>T (p.Gly448Cys) c.38G>T c.1381G>T (p.Gly461Cys) c.1363G>T (p.Gly455Cys) | gnomAD v4 |
22 | g.50697601_50697602insCGCGGCGGCACG | CA640359022 | SHANK3 | c.985_986insCGCGGCGGCACG (p.Arg328_Gly329insAlaArgArgHis) n.1569_1570insCGCGGCGGCACG c.37_38insCGCGGCGGCACG (p.Arg12_Gly13insAlaArgArgHis) c.1342_1343insCGCGGCGGCACG (p.Arg447_Gly448insAlaArgArgHis) c.38_39insCGCGGCGGCACG c.1381_1382insCGCGGCGGCACG (p.Arg460_Gly461insAlaArgArgHis) c.1363_1364insCGCGGCGGCACG (p.Arg454_Gly455insAlaArgArgHis) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697601_50697607del | CA1026687748 | SHANK3 | c.985_991del (p.Gly329SerfsTer16) n.1569_1575del c.37_43del (p.Gly13SerfsTer16) c.1342_1348del (p.Gly448SerfsTer16) c.38_44del c.1381_1387del (p.Gly461SerfsTer16) c.1363_1369del (p.Gly455SerfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697602G>A | CA515254951 | SHANK3 | c.986G>A (p.Gly329Asp) n.1570G>A c.38G>A (p.Gly13Asp) c.1343G>A (p.Gly448Asp) c.39G>A c.1382G>A (p.Gly461Asp) c.1364G>A (p.Gly455Asp) | gnomAD v4 |
22 | g.50697602G>C | CA515254952 | SHANK3 | c.986G>C (p.Gly329Ala) n.1570G>C c.38G>C (p.Gly13Ala) c.1343G>C (p.Gly448Ala) c.39G>C c.1382G>C (p.Gly461Ala) c.1364G>C (p.Gly455Ala) | gnomAD v4 |
22 | g.50697602G= | CA2410995372 | SHANK3 | c.986G= (p.Gly329=) n.1570G= c.38G= (p.Gly13=) c.1343G= (p.Gly448=) c.39G= c.1382G= (p.Gly461=) c.1364G= (p.Gly455=) | |
22 | g.50697602G>T | CA515254953 | SHANK3 | c.986G>T (p.Gly329Val) n.1570G>T c.38G>T (p.Gly13Val) c.1343G>T (p.Gly448Val) c.39G>T c.1382G>T (p.Gly461Val) c.1364G>T (p.Gly455Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697602_50697604del | CA2657598726 | SHANK3 | c.986_988del (p.Gly329_Pro330delinsAla) n.1570_1572del c.38_40del (p.Gly13_Pro14delinsAla) c.1343_1345del (p.Gly448_Pro449delinsAla) c.39_41del c.1382_1384del (p.Gly461_Pro462delinsAla) c.1364_1366del (p.Gly455_Pro456delinsAla) | gnomAD v4 |
22 | g.50697602_50697607del | CA1026687753 | SHANK3 | c.986_991del (p.Gly329_Lys331delinsGlu) n.1570_1575del c.38_43del (p.Gly13_Lys15delinsGlu) c.1343_1348del (p.Gly448_Lys450delinsGlu) c.39_44del c.1382_1387del (p.Gly461_Lys463delinsGlu) c.1364_1369del (p.Gly455_Lys457delinsGlu) | gnomAD v3 gnomAD v4 |
22 | g.50697603C>A | CA515254954 | SHANK3 | c.987C>A (p.Gly329=) n.1571C>A c.39C>A (p.Gly13=) c.1344C>A (p.Gly448=) c.40C>A c.1383C>A (p.Gly461=) c.1365C>A (p.Gly455=) | gnomAD v3 gnomAD v4 |
22 | g.50697603C= | CA2410995373 | SHANK3 | c.987C= (p.Gly329=) n.1571C= c.39C= (p.Gly13=) c.1344C= (p.Gly448=) c.40C= c.1383C= (p.Gly461=) c.1365C= (p.Gly455=) | |
22 | g.50697603C>G | CA515254955 | SHANK3 | c.987C>G (p.Gly329=) n.1571C>G c.39C>G (p.Gly13=) c.1344C>G (p.Gly448=) c.40C>G c.1383C>G (p.Gly461=) c.1365C>G (p.Gly455=) | gnomAD v4 |
22 | g.50697603C>T | CA515254956 | SHANK3 | c.987C>T (p.Gly329=) n.1571C>T c.39C>T (p.Gly13=) c.1344C>T (p.Gly448=) c.40C>T c.1383C>T (p.Gly461=) c.1365C>T (p.Gly455=) | dbSNP gnomAD v4 |
22 | g.50697605del | CA2657598731 | SHANK3 | c.989del (p.Pro330ArgfsTer17) n.1573del c.41del (p.Pro14ArgfsTer17) c.1346del (p.Pro449ArgfsTer17) c.42del c.1385del (p.Pro462ArgfsTer17) c.1367del (p.Pro456ArgfsTer17) | gnomAD v4 |
22 | g.50697603_50697604insAGG | CA640359023 | SHANK3 | c.987_988insAGG (p.Gly329_Pro330insArg) n.1571_1572insAGG c.39_40insAGG (p.Gly13_Pro14insArg) c.1344_1345insAGG (p.Gly448_Pro449insArg) c.40_41insAGG c.1383_1384insAGG (p.Gly461_Pro462insArg) c.1365_1366insAGG (p.Gly455_Pro456insArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697604C>A | CA515254957 | SHANK3 | c.988C>A (p.Pro330Thr) n.1572C>A c.40C>A (p.Pro14Thr) c.1345C>A (p.Pro449Thr) c.41C>A c.1384C>A (p.Pro462Thr) c.1366C>A (p.Pro456Thr) | gnomAD v4 |
22 | g.50697604C>G | CA515254959 | SHANK3 | c.988C>G (p.Pro330Ala) n.1572C>G c.40C>G (p.Pro14Ala) c.1345C>G (p.Pro449Ala) c.41C>G c.1384C>G (p.Pro462Ala) c.1366C>G (p.Pro456Ala) | gnomAD v4 |
22 | g.50697604C>T | CA515254958 | SHANK3 | c.988C>T (p.Pro330Ser) n.1572C>T c.40C>T (p.Pro14Ser) c.1345C>T (p.Pro449Ser) c.41C>T c.1384C>T (p.Pro462Ser) c.1366C>T (p.Pro456Ser) | gnomAD v4 |
22 | g.50697605C>A | CA515254960 | SHANK3 | c.989C>A (p.Pro330Gln) n.1573C>A c.41C>A (p.Pro14Gln) c.1346C>A (p.Pro449Gln) c.42C>A c.1385C>A (p.Pro462Gln) c.1367C>A (p.Pro456Gln) | gnomAD v4 |
22 | g.50697605C= | CA2410995374 | SHANK3 | c.989C= (p.Pro330=) n.1573C= c.41C= (p.Pro14=) c.1346C= (p.Pro449=) c.42C= c.1385C= (p.Pro462=) c.1367C= (p.Pro456=) | |
22 | g.50697605C>G | CA515254961 | SHANK3 | c.989C>G (p.Pro330Arg) n.1573C>G c.41C>G (p.Pro14Arg) c.1346C>G (p.Pro449Arg) c.42C>G c.1385C>G (p.Pro462Arg) c.1367C>G (p.Pro456Arg) | gnomAD v4 |
22 | g.50697605C>T | CA515254962 | SHANK3 | c.989C>T (p.Pro330Leu) n.1573C>T c.41C>T (p.Pro14Leu) c.1346C>T (p.Pro449Leu) c.42C>T c.1385C>T (p.Pro462Leu) c.1367C>T (p.Pro456Leu) | ClinVar dbSNP gnomAD v4 |
22 | g.50697605_50697606insAT | CA640359024 | SHANK3 | c.989_990insAT (p.Lys331Ter) n.1573_1574insAT c.41_42insAT (p.Lys15Ter) c.1346_1347insAT (p.Lys450Ter) c.42_43insAT c.1385_1386insAT (p.Lys463Ter) c.1367_1368insAT (p.Lys457Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697606G>A | CA515254963 | SHANK3 | c.990G>A (p.Pro330=) n.1574G>A c.42G>A (p.Pro14=) c.1347G>A (p.Pro449=) c.43G>A c.1386G>A (p.Pro462=) c.1368G>A (p.Pro456=) | gnomAD v4 |
22 | g.50697606G>C | CA515254964 | SHANK3 | c.990G>C (p.Pro330=) n.1574G>C c.42G>C (p.Pro14=) c.1347G>C (p.Pro449=) c.43G>C c.1386G>C (p.Pro462=) c.1368G>C (p.Pro456=) | gnomAD v4 |
22 | g.50697606G>T | CA515254965 | SHANK3 | c.990G>T (p.Pro330=) n.1574G>T c.42G>T (p.Pro14=) c.1347G>T (p.Pro449=) c.43G>T c.1386G>T (p.Pro462=) c.1368G>T (p.Pro456=) | gnomAD v4 |
22 | g.50697607A= | CA2410995375 | SHANK3 | c.991A= (p.Lys331=) n.1575A= c.43A= (p.Lys15=) c.1348A= (p.Lys450=) c.44A= c.1387A= (p.Lys463=) c.1369A= (p.Lys457=) | |
22 | g.50697607A>C | CA515254966 | SHANK3 | c.991A>C (p.Lys331Gln) n.1575A>C c.43A>C (p.Lys15Gln) c.1348A>C (p.Lys450Gln) c.44A>C c.1387A>C (p.Lys463Gln) c.1369A>C (p.Lys457Gln) | |
22 | g.50697607A>G | CA515254967 | SHANK3 | c.991A>G (p.Lys331Glu) n.1575A>G c.43A>G (p.Lys15Glu) c.1348A>G (p.Lys450Glu) c.44A>G c.1387A>G (p.Lys463Glu) c.1369A>G (p.Lys457Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697607A>T | CA515254968 | SHANK3 | c.991A>T (p.Lys331Ter) n.1575A>T c.43A>T (p.Lys15Ter) c.1348A>T (p.Lys450Ter) c.44A>T c.1387A>T (p.Lys463Ter) c.1369A>T (p.Lys457Ter) | gnomAD v4 |
22 | g.50697607_50697608del | CA1026687767 | SHANK3 | c.991_992del (p.Lys331AlafsTer23) n.1575_1576del c.43_44del (p.Lys15AlafsTer23) c.1348_1349del (p.Lys450AlafsTer23) c.44_45del c.1387_1388del (p.Lys463AlafsTer23) c.1369_1370del (p.Lys457AlafsTer23) | gnomAD v3 gnomAD v4 |
22 | g.50697608del | CA2657598746 | SHANK3 | c.992del (p.Lys331SerfsTer16) n.1576del c.44del (p.Lys15SerfsTer16) c.1349del (p.Lys450SerfsTer16) c.45del c.1388del (p.Lys463SerfsTer16) c.1370del (p.Lys457SerfsTer16) | gnomAD v4 |
22 | g.50697607_50697610del | CA2657598747 | SHANK3 | c.991_994del (p.Lys331GlyfsTer15) n.1575_1578del c.43_46del (p.Lys15GlyfsTer15) c.1348_1351del (p.Lys450GlyfsTer15) c.44_47del c.1387_1390del (p.Lys463GlyfsTer15) c.1369_1372del (p.Lys457GlyfsTer15) | gnomAD v4 |
22 | g.50697608A= | CA2410995376 | SHANK3 | c.992A= (p.Lys331=) n.1576A= c.44A= (p.Lys15=) c.1349A= (p.Lys450=) c.45A= c.1388A= (p.Lys463=) c.1370A= (p.Lys457=) | |
22 | g.50697608A>C | CA515254969 | SHANK3 | c.992A>C (p.Lys331Thr) n.1576A>C c.44A>C (p.Lys15Thr) c.1349A>C (p.Lys450Thr) c.45A>C c.1388A>C (p.Lys463Thr) c.1370A>C (p.Lys457Thr) | dbSNP |
22 | g.50697608A>G | CA515254970 | SHANK3 | c.992A>G (p.Lys331Arg) n.1576A>G c.44A>G (p.Lys15Arg) c.1349A>G (p.Lys450Arg) c.45A>G c.1388A>G (p.Lys463Arg) c.1370A>G (p.Lys457Arg) | gnomAD v3 gnomAD v4 |
22 | g.50697608A>T | CA515254971 | SHANK3 | c.992A>T (p.Lys331Met) n.1576A>T c.44A>T (p.Lys15Met) c.1349A>T (p.Lys450Met) c.45A>T c.1388A>T (p.Lys463Met) c.1370A>T (p.Lys457Met) | gnomAD v4 |
22 | g.50697609G>A | CA515254972 | SHANK3 | c.993G>A (p.Lys331=) n.1577G>A c.45G>A (p.Lys15=) c.1350G>A (p.Lys450=) c.46G>A c.1389G>A (p.Lys463=) c.1371G>A (p.Lys457=) | gnomAD v4 |
22 | g.50697609G>C | CA515254974 | SHANK3 | c.993G>C (p.Lys331Asn) n.1577G>C c.45G>C (p.Lys15Asn) c.1350G>C (p.Lys450Asn) c.46G>C c.1389G>C (p.Lys463Asn) c.1371G>C (p.Lys457Asn) | gnomAD v4 |
22 | g.50697609G>T | CA515254973 | SHANK3 | c.993G>T (p.Lys331Asn) n.1577G>T c.45G>T (p.Lys15Asn) c.1350G>T (p.Lys450Asn) c.46G>T c.1389G>T (p.Lys463Asn) c.1371G>T (p.Lys457Asn) | gnomAD v4 |
22 | g.50697610del | CA2657598759 | SHANK3 | c.994del (p.Arg332GlyfsTer15) n.1578del c.46del (p.Arg16GlyfsTer15) c.1351del (p.Arg451GlyfsTer15) c.47del c.1390del (p.Arg464GlyfsTer15) c.1372del (p.Arg458GlyfsTer15) | gnomAD v4 |
22 | g.50697610C>A | CA515254975 | SHANK3 | c.994C>A (p.Arg332=) n.1578C>A c.46C>A (p.Arg16=) c.1351C>A (p.Arg451=) c.47C>A c.1390C>A (p.Arg464=) c.1372C>A (p.Arg458=) | gnomAD v4 |
22 | g.50697610C>G | CA515254976 | SHANK3 | c.994C>G (p.Arg332Gly) n.1578C>G c.46C>G (p.Arg16Gly) c.1351C>G (p.Arg451Gly) c.47C>G c.1390C>G (p.Arg464Gly) c.1372C>G (p.Arg458Gly) | gnomAD v4 |
22 | g.50697610C>T | CA515254977 | SHANK3 | c.994C>T (p.Arg332Trp) n.1578C>T c.46C>T (p.Arg16Trp) c.1351C>T (p.Arg451Trp) c.47C>T c.1390C>T (p.Arg464Trp) c.1372C>T (p.Arg458Trp) | gnomAD v4 |
22 | g.50697611_50697621dup | CA2580099957 | SHANK3 | c.995_1005dup (p.Ser336GlyfsTer15) n.1579_1589dup c.47_57dup (p.Ser20GlyfsTer15) c.1352_1362dup (p.Ser455GlyfsTer15) c.48_58dup c.1391_1401dup (p.Ser468GlyfsTer15) c.1373_1383dup (p.Ser462GlyfsTer15) | ClinVar |
22 | g.50697611G>A | CA515254978 | SHANK3 | c.995G>A (p.Arg332Gln) n.1579G>A c.47G>A (p.Arg16Gln) c.1352G>A (p.Arg451Gln) c.48G>A c.1391G>A (p.Arg464Gln) c.1373G>A (p.Arg458Gln) | gnomAD v4 |
22 | g.50697611G>C | CA515254979 | SHANK3 | c.995G>C (p.Arg332Pro) n.1579G>C c.47G>C (p.Arg16Pro) c.1352G>C (p.Arg451Pro) c.48G>C c.1391G>C (p.Arg464Pro) c.1373G>C (p.Arg458Pro) | gnomAD v4 |
22 | g.50697611G>T | CA515254980 | SHANK3 | c.995G>T (p.Arg332Leu) n.1579G>T c.47G>T (p.Arg16Leu) c.1352G>T (p.Arg451Leu) c.48G>T c.1391G>T (p.Arg464Leu) c.1373G>T (p.Arg458Leu) | gnomAD v4 |
22 | g.50697611_50697612insCTG | CA2657598768 | SHANK3 | c.995_996insCTG (p.Arg332_Lys333insTrp) n.1579_1580insCTG c.47_48insCTG (p.Arg16_Lys17insTrp) c.1352_1353insCTG (p.Arg451_Lys452insTrp) c.48_49insCTG c.1391_1392insCTG (p.Arg464_Lys465insTrp) c.1373_1374insCTG (p.Arg458_Lys459insTrp) | gnomAD v4 |
22 | g.50697612dup | CA2657598769 | SHANK3 | c.996dup (p.Lys333GlufsTer22) n.1580dup c.48dup (p.Lys17GlufsTer22) c.1353dup (p.Lys452GlufsTer22) c.49dup c.1392dup (p.Lys465GlufsTer22) c.1374dup (p.Lys459GlufsTer22) | gnomAD v4 |
22 | g.50697612G>A | CA515254981 | SHANK3 | c.996G>A (p.Arg332=) n.1580G>A c.48G>A (p.Arg16=) c.1353G>A (p.Arg451=) c.49G>A c.1392G>A (p.Arg464=) c.1374G>A (p.Arg458=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697612G>C | CA325553932 | SHANK3 | c.996G>C (p.Arg332=) n.1580G>C c.48G>C (p.Arg16=) c.1353G>C (p.Arg451=) c.49G>C c.1392G>C (p.Arg464=) c.1374G>C (p.Arg458=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697612G= | CA2410995378 | SHANK3 | c.996G= (p.Arg332=) n.1580G= c.48G= (p.Arg16=) c.1353G= (p.Arg451=) c.49G= c.1392G= (p.Arg464=) c.1374G= (p.Arg458=) | |
22 | g.50697612G>T | CA515254982 | SHANK3 | c.996G>T (p.Arg332=) n.1580G>T c.48G>T (p.Arg16=) c.1353G>T (p.Arg451=) c.49G>T c.1392G>T (p.Arg464=) c.1374G>T (p.Arg458=) | gnomAD v4 |
22 | g.50697612_50697615delinsGAAA | CA2410995377 | SHANK3 | c.996_999delinsGAAA (p.Arg332=) n.1580_1583delinsGAAA c.48_51delinsGAAA (p.Arg16=) c.1353_1356delinsGAAA (p.Arg451=) c.49_52delinsGAAA c.1392_1395delinsGAAA (p.Arg464=) c.1374_1377delinsGAAA (p.Arg458=) | |
22 | g.50697613A>C | CA515254983 | SHANK3 | c.997A>C (p.Lys333Gln) n.1581A>C c.49A>C (p.Lys17Gln) c.1354A>C (p.Lys452Gln) c.50A>C c.1393A>C (p.Lys465Gln) c.1375A>C (p.Lys459Gln) | |
22 | g.50697613A>G | CA515254984 | SHANK3 | c.997A>G (p.Lys333Glu) n.1581A>G c.49A>G (p.Lys17Glu) c.1354A>G (p.Lys452Glu) c.50A>G c.1393A>G (p.Lys465Glu) c.1375A>G (p.Lys459Glu) | gnomAD v4 |
22 | g.50697613A>T | CA515254985 | SHANK3 | c.997A>T (p.Lys333Ter) n.1581A>T c.49A>T (p.Lys17Ter) c.1354A>T (p.Lys452Ter) c.50A>T c.1393A>T (p.Lys465Ter) c.1375A>T (p.Lys459Ter) | gnomAD v4 |
22 | g.50697613_50697615del | CA640359025 | SHANK3 | c.997_999del (p.Lys333del) n.1581_1583del c.49_51del (p.Lys17del) c.1354_1356del (p.Lys452del) c.50_52del c.1393_1395del (p.Lys465del) c.1375_1377del (p.Lys459del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697615dup | CA2839095027 | SHANK3 | c.999dup (p.Leu334ThrfsTer21) n.1583dup c.51dup (p.Leu18ThrfsTer21) c.1356dup (p.Leu453ThrfsTer21) c.52dup c.1395dup (p.Leu466ThrfsTer21) c.1377dup (p.Leu460ThrfsTer21) | |
22 | g.50697615del | CA2657598779 | SHANK3 | c.999del (p.Lys333AsnfsTer14) n.1583del c.51del (p.Lys17AsnfsTer14) c.1356del (p.Lys452AsnfsTer14) c.52del c.1395del (p.Lys465AsnfsTer14) c.1377del (p.Lys459AsnfsTer14) | gnomAD v4 |
22 | g.50697613_50697622del | CA2819325448 | SHANK3 | c.997_1006del (p.Lys333AlafsTer11) n.1581_1590del c.49_58del (p.Lys17AlafsTer11) c.1354_1363del (p.Lys452AlafsTer11) c.50_59del c.1393_1402del (p.Lys465AlafsTer11) c.1375_1384del (p.Lys459AlafsTer11) | |
22 | g.50697613_50697624del | CA1026687777 | SHANK3 | c.997_1008del (p.Lys333_Ser336del) n.1581_1592del c.49_60del (p.Lys17_Ser20del) c.1354_1365del (p.Lys452_Ser455del) c.50_61del c.1393_1404del (p.Lys465_Ser468del) c.1375_1386del (p.Lys459_Ser462del) | gnomAD v3 gnomAD v4 |
22 | g.50697614A>C | CA515254988 | SHANK3 | c.998A>C (p.Lys333Thr) n.1582A>C c.50A>C (p.Lys17Thr) c.1355A>C (p.Lys452Thr) c.51A>C c.1394A>C (p.Lys465Thr) c.1376A>C (p.Lys459Thr) | gnomAD v3 gnomAD v4 |
22 | g.50697614A>G | CA515254987 | SHANK3 | c.998A>G (p.Lys333Arg) n.1582A>G c.50A>G (p.Lys17Arg) c.1355A>G (p.Lys452Arg) c.51A>G c.1394A>G (p.Lys465Arg) c.1376A>G (p.Lys459Arg) | gnomAD v4 |
22 | g.50697614A>T | CA515254986 | SHANK3 | c.998A>T (p.Lys333Ile) n.1582A>T c.50A>T (p.Lys17Ile) c.1355A>T (p.Lys452Ile) c.51A>T c.1394A>T (p.Lys465Ile) c.1376A>T (p.Lys459Ile) | |
22 | g.50697614_50697615insGATCTACTA | CA2657598782 | SHANK3 | c.998_999insGATCTACTA (p.Lys334IlefsTer3) n.1582_1583insGATCTACTA c.50_51insGATCTACTA (p.Lys18IlefsTer3) c.1355_1356insGATCTACTA (p.Lys453IlefsTer3) c.51_52insGATCTACTA c.1394_1395insGATCTACTA (p.Lys466IlefsTer3) c.1376_1377insGATCTACTA (p.Lys460IlefsTer3) | gnomAD v4 |
22 | g.50697615A>C | CA515254989 | SHANK3 | c.999A>C (p.Lys333Asn) n.1583A>C c.51A>C (p.Lys17Asn) c.1356A>C (p.Lys452Asn) c.52A>C c.1395A>C (p.Lys465Asn) c.1377A>C (p.Lys459Asn) | gnomAD v4 |
22 | g.50697615A>G | CA515254990 | SHANK3 | c.999A>G (p.Lys333=) n.1583A>G c.51A>G (p.Lys17=) c.1356A>G (p.Lys452=) c.52A>G c.1395A>G (p.Lys465=) c.1377A>G (p.Lys459=) | gnomAD v4 |
22 | g.50697615A>T | CA515254991 | SHANK3 | c.999A>T (p.Lys333Asn) n.1583A>T c.51A>T (p.Lys17Asn) c.1356A>T (p.Lys452Asn) c.52A>T c.1395A>T (p.Lys465Asn) c.1377A>T (p.Lys459Asn) | |
22 | g.50697616C>A | CA515254992 | SHANK3 | c.1000C>A (p.Leu334Ile) n.1584C>A c.52C>A (p.Leu18Ile) c.1357C>A (p.Leu453Ile) c.53C>A c.1396C>A (p.Leu466Ile) c.1378C>A (p.Leu460Ile) | gnomAD v4 |
22 | g.50697616C>G | CA515254993 | SHANK3 | c.1000C>G (p.Leu334Val) n.1584C>G c.52C>G (p.Leu18Val) c.1357C>G (p.Leu453Val) c.53C>G c.1396C>G (p.Leu466Val) c.1378C>G (p.Leu460Val) | |
22 | g.50697616C>T | CA515254994 | SHANK3 | c.1000C>T (p.Leu334Phe) n.1584C>T c.52C>T (p.Leu18Phe) c.1357C>T (p.Leu453Phe) c.53C>T c.1396C>T (p.Leu466Phe) c.1378C>T (p.Leu460Phe) | gnomAD v4 |
22 | g.50697617T>A | CA515254995 | SHANK3 | c.1001T>A (p.Leu334His) n.1585T>A c.53T>A (p.Leu18His) c.1358T>A (p.Leu453His) c.54T>A c.1397T>A (p.Leu466His) c.1379T>A (p.Leu460His) | |
22 | g.50697617T>C | CA515254996 | SHANK3 | c.1001T>C (p.Leu334Pro) n.1585T>C c.53T>C (p.Leu18Pro) c.1358T>C (p.Leu453Pro) c.54T>C c.1397T>C (p.Leu466Pro) c.1379T>C (p.Leu460Pro) | gnomAD v4 |
22 | g.50697617T>G | CA515254997 | SHANK3 | c.1001T>G (p.Leu334Arg) n.1585T>G c.53T>G (p.Leu18Arg) c.1358T>G (p.Leu453Arg) c.54T>G c.1397T>G (p.Leu466Arg) c.1379T>G (p.Leu460Arg) | gnomAD v4 |
22 | g.50697619del | CA2657598789 | SHANK3 | c.1003del (p.Tyr335ThrfsTer12) n.1587del c.55del (p.Tyr19ThrfsTer12) c.1360del (p.Tyr454ThrfsTer12) c.56del c.1399del (p.Tyr467ThrfsTer12) c.1381del (p.Tyr461ThrfsTer12) | gnomAD v4 |
22 | g.50697618T>A | CA515254998 | SHANK3 | c.1002T>A (p.Leu334=) n.1586T>A c.54T>A (p.Leu18=) c.1359T>A (p.Leu453=) c.55T>A c.1398T>A (p.Leu466=) c.1380T>A (p.Leu460=) | gnomAD v4 |
22 | g.50697618T>C | CA515254999 | SHANK3 | c.1002T>C (p.Leu334=) n.1586T>C c.54T>C (p.Leu18=) c.1359T>C (p.Leu453=) c.55T>C c.1398T>C (p.Leu466=) c.1380T>C (p.Leu460=) | gnomAD v4 |
22 | g.50697618T>G | CA515255000 | SHANK3 | c.1002T>G (p.Leu334=) n.1586T>G c.54T>G (p.Leu18=) c.1359T>G (p.Leu453=) c.55T>G c.1398T>G (p.Leu466=) c.1380T>G (p.Leu460=) | |
22 | g.50697619T>A | CA515255001 | SHANK3 | c.1003T>A (p.Tyr335Asn) n.1587T>A c.55T>A (p.Tyr19Asn) c.1360T>A (p.Tyr454Asn) c.56T>A c.1399T>A (p.Tyr467Asn) c.1381T>A (p.Tyr461Asn) | |
22 | g.50697619T>C | CA515255003 | SHANK3 | c.1003T>C (p.Tyr335His) n.1587T>C c.55T>C (p.Tyr19His) c.1360T>C (p.Tyr454His) c.56T>C c.1399T>C (p.Tyr467His) c.1381T>C (p.Tyr461His) | gnomAD v4 |
22 | g.50697619T>G | CA515255002 | SHANK3 | c.1003T>G (p.Tyr335Asp) n.1587T>G c.55T>G (p.Tyr19Asp) c.1360T>G (p.Tyr454Asp) c.56T>G c.1399T>G (p.Tyr467Asp) c.1381T>G (p.Tyr461Asp) | |
22 | g.50697620A= | CA2410995379 | SHANK3 | c.1004A= (p.Tyr335=) n.1588A= c.56A= (p.Tyr19=) c.1361A= (p.Tyr454=) c.57A= c.1400A= (p.Tyr467=) c.1382A= (p.Tyr461=) | |
22 | g.50697620A>C | CA515255004 | SHANK3 | c.1004A>C (p.Tyr335Ser) n.1588A>C c.56A>C (p.Tyr19Ser) c.1361A>C (p.Tyr454Ser) c.57A>C c.1400A>C (p.Tyr467Ser) c.1382A>C (p.Tyr461Ser) | |
22 | g.50697620A>G | CA515255005 | SHANK3 | c.1004A>G (p.Tyr335Cys) n.1588A>G c.56A>G (p.Tyr19Cys) c.1361A>G (p.Tyr454Cys) c.57A>G c.1400A>G (p.Tyr467Cys) c.1382A>G (p.Tyr461Cys) | gnomAD v4 |
22 | g.50697620A>T | CA10325521 | SHANK3 | c.1004A>T (p.Tyr335Phe) n.1588A>T c.56A>T (p.Tyr19Phe) c.1361A>T (p.Tyr454Phe) c.57A>T c.1400A>T (p.Tyr467Phe) c.1382A>T (p.Tyr461Phe) | dbSNP ExAC gnomAD v4 |
22 | g.50697621_50697622del | CA2657598797 | SHANK3 | c.1005_1006del (p.Tyr335Ter) n.1589_1590del c.57_58del (p.Tyr19Ter) c.1362_1363del (p.Tyr454Ter) c.58_59del c.1401_1402del (p.Tyr467Ter) c.1383_1384del (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621del | CA2819325449 | SHANK3 | c.1005del (p.Tyr335Ter) n.1589del c.57del (p.Tyr19Ter) c.1362del (p.Tyr454Ter) c.58del c.1401del (p.Tyr467Ter) c.1383del (p.Tyr461Ter) | |
22 | g.50697621C>A | CA515255006 | SHANK3 | c.1005C>A (p.Tyr335Ter) n.1589C>A c.57C>A (p.Tyr19Ter) c.1362C>A (p.Tyr454Ter) c.58C>A c.1401C>A (p.Tyr467Ter) c.1383C>A (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621C= | CA2410995380 | SHANK3 | c.1005C= (p.Tyr335=) n.1589C= c.57C= (p.Tyr19=) c.1362C= (p.Tyr454=) c.58C= c.1401C= (p.Tyr467=) c.1383C= (p.Tyr461=) | |
22 | g.50697621C>G | CA515255007 | SHANK3 | c.1005C>G (p.Tyr335Ter) n.1589C>G c.57C>G (p.Tyr19Ter) c.1362C>G (p.Tyr454Ter) c.58C>G c.1401C>G (p.Tyr467Ter) c.1383C>G (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621C>T | CA10325522 | SHANK3 | c.1005C>T (p.Tyr335=) n.1589C>T c.57C>T (p.Tyr19=) c.1362C>T (p.Tyr454=) c.58C>T c.1401C>T (p.Tyr467=) c.1383C>T (p.Tyr461=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697621dup | CA2839095021 | SHANK3 | c.1005dup (p.Ser336GlnfsTer19) n.1589dup c.57dup (p.Ser20GlnfsTer19) c.1362dup (p.Ser455GlnfsTer19) c.58dup c.1401dup (p.Ser468GlnfsTer19) c.1383dup (p.Ser462GlnfsTer19) | |
22 | g.50697622A>C | CA515255008 | SHANK3 | c.1006A>C (p.Ser336Arg) n.1590A>C c.58A>C (p.Ser20Arg) c.1363A>C (p.Ser455Arg) c.59A>C c.1402A>C (p.Ser468Arg) c.1384A>C (p.Ser462Arg) | gnomAD v4 |
22 | g.50697622A>G | CA515255009 | SHANK3 | c.1006A>G (p.Ser336Gly) n.1590A>G c.58A>G (p.Ser20Gly) c.1363A>G (p.Ser455Gly) c.59A>G c.1402A>G (p.Ser468Gly) c.1384A>G (p.Ser462Gly) | gnomAD v4 |
22 | g.50697622A>T | CA515255010 | SHANK3 | c.1006A>T (p.Ser336Cys) n.1590A>T c.58A>T (p.Ser20Cys) c.1363A>T (p.Ser455Cys) c.59A>T c.1402A>T (p.Ser468Cys) c.1384A>T (p.Ser462Cys) | gnomAD v4 |
22 | g.50697623G>A | CA515255011 | SHANK3 | c.1007G>A (p.Ser336Asn) n.1591G>A c.59G>A (p.Ser20Asn) c.1364G>A (p.Ser455Asn) c.60G>A c.1403G>A (p.Ser468Asn) c.1385G>A (p.Ser462Asn) | gnomAD v4 |
22 | g.50697623G>C | CA515255012 | SHANK3 | c.1007G>C (p.Ser336Thr) n.1591G>C c.59G>C (p.Ser20Thr) c.1364G>C (p.Ser455Thr) c.60G>C c.1403G>C (p.Ser468Thr) c.1385G>C (p.Ser462Thr) | |
22 | g.50697623G>T | CA515255013 | SHANK3 | c.1007G>T (p.Ser336Ile) n.1591G>T c.59G>T (p.Ser20Ile) c.1364G>T (p.Ser455Ile) c.60G>T c.1403G>T (p.Ser468Ile) c.1385G>T (p.Ser462Ile) | gnomAD v4 |
22 | g.50697624C>A | CA515255014 | SHANK3 | c.1008C>A (p.Ser336Arg) n.1592C>A c.60C>A (p.Ser20Arg) c.1365C>A (p.Ser455Arg) c.61C>A c.1404C>A (p.Ser468Arg) c.1386C>A (p.Ser462Arg) | gnomAD v4 |
22 | g.50697624C= | CA2410995381 | SHANK3 | c.1008C= (p.Ser336=) n.1592C= c.60C= (p.Ser20=) c.1365C= (p.Ser455=) c.61C= c.1404C= (p.Ser468=) c.1386C= (p.Ser462=) | |
22 | g.50697624C>G | CA515255015 | SHANK3 | c.1008C>G (p.Ser336Arg) n.1592C>G c.60C>G (p.Ser20Arg) c.1365C>G (p.Ser455Arg) c.61C>G c.1404C>G (p.Ser468Arg) c.1386C>G (p.Ser462Arg) | gnomAD v4 |
22 | g.50697624C>T | CA515255016 | SHANK3 | c.1008C>T (p.Ser336=) n.1592C>T c.60C>T (p.Ser20=) c.1365C>T (p.Ser455=) c.61C>T c.1404C>T (p.Ser468=) c.1386C>T (p.Ser462=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697625G>A | CA515255017 | SHANK3 | c.1009G>A (p.Ala337Thr) n.1593G>A c.61G>A (p.Ala21Thr) c.1366G>A (p.Ala456Thr) c.62G>A c.1405G>A (p.Ala469Thr) c.1387G>A (p.Ala463Thr) | gnomAD v4 |
22 | g.50697625G>C | CA515255018 | SHANK3 | c.1009G>C (p.Ala337Pro) n.1593G>C c.61G>C (p.Ala21Pro) c.1366G>C (p.Ala456Pro) c.62G>C c.1405G>C (p.Ala469Pro) c.1387G>C (p.Ala463Pro) | gnomAD v4 |
22 | g.50697625G>T | CA515255019 | SHANK3 | c.1009G>T (p.Ala337Ser) n.1593G>T c.61G>T (p.Ala21Ser) c.1366G>T (p.Ala456Ser) c.62G>T c.1405G>T (p.Ala469Ser) c.1387G>T (p.Ala463Ser) | gnomAD v4 |
22 | g.50697626C>A | CA515255020 | SHANK3 | c.1010C>A (p.Ala337Asp) n.1594C>A c.62C>A (p.Ala21Asp) c.1367C>A (p.Ala456Asp) c.63C>A c.1406C>A (p.Ala469Asp) c.1388C>A (p.Ala463Asp) | gnomAD v4 |
22 | g.50697626C>G | CA515255022 | SHANK3 | c.1010C>G (p.Ala337Gly) n.1594C>G c.62C>G (p.Ala21Gly) c.1367C>G (p.Ala456Gly) c.63C>G c.1406C>G (p.Ala469Gly) c.1388C>G (p.Ala463Gly) | gnomAD v4 |
22 | g.50697626C>T | CA515255021 | SHANK3 | c.1010C>T (p.Ala337Val) n.1594C>T c.62C>T (p.Ala21Val) c.1367C>T (p.Ala456Val) c.63C>T c.1406C>T (p.Ala469Val) c.1388C>T (p.Ala463Val) | gnomAD v4 |
22 | g.50697627C>A | CA515255023 | SHANK3 | c.1011C>A (p.Ala337=) n.1595C>A c.63C>A (p.Ala21=) c.1368C>A (p.Ala456=) c.64C>A c.1407C>A (p.Ala469=) c.1389C>A (p.Ala463=) | gnomAD v4 |
22 | g.50697627C= | CA2410995382 | SHANK3 | c.1011C= (p.Ala337=) n.1595C= c.63C= (p.Ala21=) c.1368C= (p.Ala456=) c.64C= c.1407C= (p.Ala469=) c.1389C= (p.Ala463=) | |
22 | g.50697627C>G | CA515255024 | SHANK3 | c.1011C>G (p.Ala337=) n.1595C>G c.63C>G (p.Ala21=) c.1368C>G (p.Ala456=) c.64C>G c.1407C>G (p.Ala469=) c.1389C>G (p.Ala463=) | gnomAD v4 |
22 | g.50697627C>T | CA10325523 | SHANK3 | c.1011C>T (p.Ala337=) n.1595C>T c.63C>T (p.Ala21=) c.1368C>T (p.Ala456=) c.64C>T c.1407C>T (p.Ala469=) c.1389C>T (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697628G>A | CA515255025 | SHANK3 | c.1012G>A (p.Val338Ile) n.1596G>A c.64G>A (p.Val22Ile) c.1369G>A (p.Val457Ile) c.65G>A c.1408G>A (p.Val470Ile) c.1390G>A (p.Val464Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697628G>C | CA515255026 | SHANK3 | c.1012G>C (p.Val338Leu) n.1596G>C c.64G>C (p.Val22Leu) c.1369G>C (p.Val457Leu) c.65G>C c.1408G>C (p.Val470Leu) c.1390G>C (p.Val464Leu) | |
22 | g.50697628G= | CA2410995383 | SHANK3 | c.1012G= (p.Val338=) n.1596G= c.64G= (p.Val22=) c.1369G= (p.Val457=) c.65G= c.1408G= (p.Val470=) c.1390G= (p.Val464=) | |
22 | g.50697628G>T | CA515255027 | SHANK3 | c.1012G>T (p.Val338Phe) n.1596G>T c.64G>T (p.Val22Phe) c.1369G>T (p.Val457Phe) c.65G>T c.1408G>T (p.Val470Phe) c.1390G>T (p.Val464Phe) | gnomAD v4 |
22 | g.50697629T>A | CA515255028 | SHANK3 | c.1013T>A (p.Val338Asp) n.1597T>A c.65T>A (p.Val22Asp) c.1370T>A (p.Val457Asp) c.66T>A c.1409T>A (p.Val470Asp) c.1391T>A (p.Val464Asp) | |
22 | g.50697629T>C | CA515255029 | SHANK3 | c.1013T>C (p.Val338Ala) n.1597T>C c.65T>C (p.Val22Ala) c.1370T>C (p.Val457Ala) c.66T>C c.1409T>C (p.Val470Ala) c.1391T>C (p.Val464Ala) | gnomAD v4 |
22 | g.50697629T>G | CA515255030 | SHANK3 | c.1013T>G (p.Val338Gly) n.1597T>G c.65T>G (p.Val22Gly) c.1370T>G (p.Val457Gly) c.66T>G c.1409T>G (p.Val470Gly) c.1391T>G (p.Val464Gly) | |
22 | g.50697629_50697630delinsTC | CA2410995384 | SHANK3 | c.1013_1014delinsTC (p.Val338=) n.1597_1598delinsTC c.65_66delinsTC (p.Val22=) c.1370_1371delinsTC (p.Val457=) c.66_67delinsTC c.1409_1410delinsTC (p.Val470=) c.1391_1392delinsTC (p.Val464=) | |
22 | g.50697630C>A | CA515255033 | SHANK3 | c.1014C>A (p.Val338=) n.1598C>A c.66C>A (p.Val22=) c.1371C>A (p.Val457=) c.67C>A c.1410C>A (p.Val470=) c.1392C>A (p.Val464=) | gnomAD v4 |
22 | g.50697630C= | CA2410995385 | SHANK3 | c.1014C= (p.Val338=) n.1598C= c.66C= (p.Val22=) c.1371C= (p.Val457=) c.67C= c.1410C= (p.Val470=) c.1392C= (p.Val464=) | |
22 | g.50697630C>G | CA515255032 | SHANK3 | c.1014C>G (p.Val338=) n.1598C>G c.66C>G (p.Val22=) c.1371C>G (p.Val457=) c.67C>G c.1410C>G (p.Val470=) c.1392C>G (p.Val464=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697630C>T | CA515255031 | SHANK3 | c.1014C>T (p.Val338=) n.1598C>T c.66C>T (p.Val22=) c.1371C>T (p.Val457=) c.67C>T c.1410C>T (p.Val470=) c.1392C>T (p.Val464=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697633del | CA640359026 | SHANK3 | c.1017del (p.Gly340AlafsTer7) n.1601del c.69del (p.Gly24AlafsTer7) c.1374del (p.Gly459AlafsTer7) c.70del c.1413del (p.Gly472AlafsTer7) c.1395del (p.Gly466AlafsTer7) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697631C>A | CA515255034 | SHANK3 | c.1015C>A (p.Pro339Thr) n.1599C>A c.67C>A (p.Pro23Thr) c.1372C>A (p.Pro458Thr) c.68C>A c.1411C>A (p.Pro471Thr) c.1393C>A (p.Pro465Thr) | gnomAD v4 |
22 | g.50697631C>G | CA515255035 | SHANK3 | c.1015C>G (p.Pro339Ala) n.1599C>G c.67C>G (p.Pro23Ala) c.1372C>G (p.Pro458Ala) c.68C>G c.1411C>G (p.Pro471Ala) c.1393C>G (p.Pro465Ala) | |
22 | g.50697631C>T | CA515255036 | SHANK3 | c.1015C>T (p.Pro339Ser) n.1599C>T c.67C>T (p.Pro23Ser) c.1372C>T (p.Pro458Ser) c.68C>T c.1411C>T (p.Pro471Ser) c.1393C>T (p.Pro465Ser) | gnomAD v4 |
22 | g.50697632C>A | CA515255037 | SHANK3 | c.1016C>A (p.Pro339His) n.1600C>A c.68C>A (p.Pro23His) c.1373C>A (p.Pro458His) c.69C>A c.1412C>A (p.Pro471His) c.1394C>A (p.Pro465His) | gnomAD v4 |
22 | g.50697632C>G | CA515255038 | SHANK3 | c.1016C>G (p.Pro339Arg) n.1600C>G c.68C>G (p.Pro23Arg) c.1373C>G (p.Pro458Arg) c.69C>G c.1412C>G (p.Pro471Arg) c.1394C>G (p.Pro465Arg) | gnomAD v4 |
22 | g.50697632C>T | CA515255039 | SHANK3 | c.1016C>T (p.Pro339Leu) n.1600C>T c.68C>T (p.Pro23Leu) c.1373C>T (p.Pro458Leu) c.69C>T c.1412C>T (p.Pro471Leu) c.1394C>T (p.Pro465Leu) | gnomAD v4 |
22 | g.50697633C>A | CA515255040 | SHANK3 | c.1017C>A (p.Pro339=) n.1601C>A c.69C>A (p.Pro23=) c.1374C>A (p.Pro458=) c.70C>A c.1413C>A (p.Pro471=) c.1395C>A (p.Pro465=) | gnomAD v4 |
22 | g.50697633C= | CA2410995386 | SHANK3 | c.1017C= (p.Pro339=) n.1601C= c.69C= (p.Pro23=) c.1374C= (p.Pro458=) c.70C= c.1413C= (p.Pro471=) c.1395C= (p.Pro465=) | |
22 | g.50697633C>G | CA515255041 | SHANK3 | c.1017C>G (p.Pro339=) n.1601C>G c.69C>G (p.Pro23=) c.1374C>G (p.Pro458=) c.70C>G c.1413C>G (p.Pro471=) c.1395C>G (p.Pro465=) | dbSNP gnomAD v4 |
22 | g.50697633C>T | CA325553955 | SHANK3 | c.1017C>T (p.Pro339=) n.1601C>T c.69C>T (p.Pro23=) c.1374C>T (p.Pro458=) c.70C>T c.1413C>T (p.Pro471=) c.1395C>T (p.Pro465=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697634G>A | CA515255042 | SHANK3 | c.1018G>A (p.Gly340Ser) n.1602G>A c.70G>A (p.Gly24Ser) c.1375G>A (p.Gly459Ser) c.71G>A c.1414G>A (p.Gly472Ser) c.1396G>A (p.Gly466Ser) | gnomAD v4 |
22 | g.50697634G>C | CA515255043 | SHANK3 | c.1018G>C (p.Gly340Arg) n.1602G>C c.70G>C (p.Gly24Arg) c.1375G>C (p.Gly459Arg) c.71G>C c.1414G>C (p.Gly472Arg) c.1396G>C (p.Gly466Arg) | gnomAD v4 |
22 | g.50697634G>T | CA515255044 | SHANK3 | c.1018G>T (p.Gly340Cys) n.1602G>T c.70G>T (p.Gly24Cys) c.1375G>T (p.Gly459Cys) c.71G>T c.1414G>T (p.Gly472Cys) c.1396G>T (p.Gly466Cys) | gnomAD v4 |
22 | g.50697634_50697635del | CA2819325450 | SHANK3 | c.1018_1019del (p.Gly340ProfsTer14) n.1602_1603del c.70_71del (p.Gly24ProfsTer14) c.1375_1376del (p.Gly459ProfsTer14) c.71_72del c.1414_1415del (p.Gly472ProfsTer14) c.1396_1397del (p.Gly466ProfsTer14) | |
22 | g.50697635G>A | CA515255047 | SHANK3 | c.1019G>A (p.Gly340Asp) n.1603G>A c.71G>A (p.Gly24Asp) c.1376G>A (p.Gly459Asp) c.72G>A c.1415G>A (p.Gly472Asp) c.1397G>A (p.Gly466Asp) | gnomAD v4 |
22 | g.50697635G>C | CA515255045 | SHANK3 | c.1019G>C (p.Gly340Ala) n.1603G>C c.71G>C (p.Gly24Ala) c.1376G>C (p.Gly459Ala) c.72G>C c.1415G>C (p.Gly472Ala) c.1397G>C (p.Gly466Ala) | gnomAD v4 |
22 | g.50697635G>T | CA515255046 | SHANK3 | c.1019G>T (p.Gly340Val) n.1603G>T c.71G>T (p.Gly24Val) c.1376G>T (p.Gly459Val) c.72G>T c.1415G>T (p.Gly472Val) c.1397G>T (p.Gly466Val) | gnomAD v4 |
22 | g.50697636C>A | CA515255048 | SHANK3 | c.1020C>A (p.Gly340=) n.1604C>A c.72C>A (p.Gly24=) c.1377C>A (p.Gly459=) c.73C>A c.1416C>A (p.Gly472=) c.1398C>A (p.Gly466=) | gnomAD v4 |
22 | g.50697636C= | CA2410995387 | SHANK3 | c.1020C= (p.Gly340=) n.1604C= c.72C= (p.Gly24=) c.1377C= (p.Gly459=) c.73C= c.1416C= (p.Gly472=) c.1398C= (p.Gly466=) | |
22 | g.50697636C>G | CA515255049 | SHANK3 | c.1020C>G (p.Gly340=) n.1604C>G c.72C>G (p.Gly24=) c.1377C>G (p.Gly459=) c.73C>G c.1416C>G (p.Gly472=) c.1398C>G (p.Gly466=) | gnomAD v4 |
22 | g.50697636C>T | CA515255050 | SHANK3 | c.1020C>T (p.Gly340=) n.1604C>T c.72C>T (p.Gly24=) c.1377C>T (p.Gly459=) c.73C>T c.1416C>T (p.Gly472=) c.1398C>T (p.Gly466=) | dbSNP gnomAD v4 |
22 | g.50697637C>A | CA515255051 | SHANK3 | c.1021C>A (p.Arg341Ser) n.1605C>A c.73C>A (p.Arg25Ser) c.1378C>A (p.Arg460Ser) c.74C>A c.1417C>A (p.Arg473Ser) c.1399C>A (p.Arg467Ser) | gnomAD v4 |
22 | g.50697637C>G | CA515255052 | SHANK3 | c.1021C>G (p.Arg341Gly) n.1605C>G c.73C>G (p.Arg25Gly) c.1378C>G (p.Arg460Gly) c.74C>G c.1417C>G (p.Arg473Gly) c.1399C>G (p.Arg467Gly) | gnomAD v4 |
22 | g.50697637C>T | CA515255053 | SHANK3 | c.1021C>T (p.Arg341Cys) n.1605C>T c.73C>T (p.Arg25Cys) c.1378C>T (p.Arg460Cys) c.74C>T c.1417C>T (p.Arg473Cys) c.1399C>T (p.Arg467Cys) | gnomAD v4 |
22 | g.50697638del | CA2657598874 | SHANK3 | c.1022del (p.Arg341ProfsTer6) n.1606del c.74del (p.Arg25ProfsTer6) c.1379del (p.Arg460ProfsTer6) c.75del c.1418del (p.Arg473ProfsTer6) c.1400del (p.Arg467ProfsTer6) | gnomAD v4 |
22 | g.50697638G>A | CA515255054 | SHANK3 | c.1022G>A (p.Arg341His) n.1606G>A c.74G>A (p.Arg25His) c.1379G>A (p.Arg460His) c.75G>A c.1418G>A (p.Arg473His) c.1400G>A (p.Arg467His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697638G>C | CA515255055 | SHANK3 | c.1022G>C (p.Arg341Pro) n.1606G>C c.74G>C (p.Arg25Pro) c.1379G>C (p.Arg460Pro) c.75G>C c.1418G>C (p.Arg473Pro) c.1400G>C (p.Arg467Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697638G= | CA2410995388 | SHANK3 | c.1022G= (p.Arg341=) n.1606G= c.74G= (p.Arg25=) c.1379G= (p.Arg460=) c.75G= c.1418G= (p.Arg473=) c.1400G= (p.Arg467=) | |
22 | g.50697638G>T | CA515255056 | SHANK3 | c.1022G>T (p.Arg341Leu) n.1606G>T c.74G>T (p.Arg25Leu) c.1379G>T (p.Arg460Leu) c.75G>T c.1418G>T (p.Arg473Leu) c.1400G>T (p.Arg467Leu) | gnomAD v4 |
22 | g.50697639C>A | CA515255057 | SHANK3 | c.1023C>A (p.Arg341=) n.1607C>A c.75C>A (p.Arg25=) c.1380C>A (p.Arg460=) c.76C>A c.1419C>A (p.Arg473=) c.1401C>A (p.Arg467=) | gnomAD v4 |
22 | g.50697639C>G | CA515255058 | SHANK3 | c.1023C>G (p.Arg341=) n.1607C>G c.75C>G (p.Arg25=) c.1380C>G (p.Arg460=) c.76C>G c.1419C>G (p.Arg473=) c.1401C>G (p.Arg467=) | gnomAD v4 |
22 | g.50697639C>T | CA515255059 | SHANK3 | c.1023C>T (p.Arg341=) n.1607C>T c.75C>T (p.Arg25=) c.1380C>T (p.Arg460=) c.76C>T c.1419C>T (p.Arg473=) c.1401C>T (p.Arg467=) | gnomAD v4 |
22 | g.50697640A>C | CA515255061 | SHANK3 | c.1024A>C (p.Lys342Gln) n.1608A>C c.76A>C (p.Lys26Gln) c.1381A>C (p.Lys461Gln) c.77A>C c.1420A>C (p.Lys474Gln) c.1402A>C (p.Lys468Gln) | |
22 | g.50697640A>G | CA515255062 | SHANK3 | c.1024A>G (p.Lys342Glu) n.1608A>G c.76A>G (p.Lys26Glu) c.1381A>G (p.Lys461Glu) c.77A>G c.1420A>G (p.Lys474Glu) c.1402A>G (p.Lys468Glu) | gnomAD v4 |
22 | g.50697640A>T | CA515255060 | SHANK3 | c.1024A>T (p.Lys342Ter) n.1608A>T c.76A>T (p.Lys26Ter) c.1381A>T (p.Lys461Ter) c.77A>T c.1420A>T (p.Lys474Ter) c.1402A>T (p.Lys468Ter) | gnomAD v4 |
22 | g.50697641A= | CA2410995389 | SHANK3 | c.1025A= (p.Lys342=) n.1609A= c.77A= (p.Lys26=) c.1382A= (p.Lys461=) c.78A= c.1421A= (p.Lys474=) c.1403A= (p.Lys468=) | |
22 | g.50697641A>C | CA515255063 | SHANK3 | c.1025A>C (p.Lys342Thr) n.1609A>C c.77A>C (p.Lys26Thr) c.1382A>C (p.Lys461Thr) c.78A>C c.1421A>C (p.Lys474Thr) c.1403A>C (p.Lys468Thr) | gnomAD v4 |
22 | g.50697641A>G | CA10325524 | SHANK3 | c.1025A>G (p.Lys342Arg) n.1609A>G c.77A>G (p.Lys26Arg) c.1382A>G (p.Lys461Arg) c.78A>G c.1421A>G (p.Lys474Arg) c.1403A>G (p.Lys468Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697641A>T | CA515255064 | SHANK3 | c.1025A>T (p.Lys342Met) n.1609A>T c.77A>T (p.Lys26Met) c.1382A>T (p.Lys461Met) c.78A>T c.1421A>T (p.Lys474Met) c.1403A>T (p.Lys468Met) | gnomAD v4 |
22 | g.50697642G>A | CA515255065 | SHANK3 | c.1026G>A (p.Lys342=) n.1610G>A c.78G>A (p.Lys26=) c.1383G>A (p.Lys461=) c.79G>A c.1422G>A (p.Lys474=) c.1404G>A (p.Lys468=) | gnomAD v4 |
22 | g.50697642G>C | CA515255066 | SHANK3 | c.1026G>C (p.Lys342Asn) n.1610G>C c.78G>C (p.Lys26Asn) c.1383G>C (p.Lys461Asn) c.79G>C c.1422G>C (p.Lys474Asn) c.1404G>C (p.Lys468Asn) | gnomAD v4 |
22 | g.50697642G>T | CA515255067 | SHANK3 | c.1026G>T (p.Lys342Asn) n.1610G>T c.78G>T (p.Lys26Asn) c.1383G>T (p.Lys461Asn) c.79G>T c.1422G>T (p.Lys474Asn) c.1404G>T (p.Lys468Asn) | gnomAD v4 |
22 | g.50697643T>A | CA515255070 | SHANK3 | c.1027T>A (p.Phe343Ile) n.1611T>A c.79T>A (p.Phe27Ile) c.1384T>A (p.Phe462Ile) c.80T>A c.1423T>A (p.Phe475Ile) c.1405T>A (p.Phe469Ile) | gnomAD v4 |
22 | g.50697643T>C | CA515255068 | SHANK3 | c.1027T>C (p.Phe343Leu) n.1611T>C c.79T>C (p.Phe27Leu) c.1384T>C (p.Phe462Leu) c.80T>C c.1423T>C (p.Phe475Leu) c.1405T>C (p.Phe469Leu) | gnomAD v4 |
22 | g.50697643T>G | CA515255069 | SHANK3 | c.1027T>G (p.Phe343Val) n.1611T>G c.79T>G (p.Phe27Val) c.1384T>G (p.Phe462Val) c.80T>G c.1423T>G (p.Phe475Val) c.1405T>G (p.Phe469Val) | |
22 | g.50697644T>A | CA515255071 | SHANK3 | c.1028T>A (p.Phe343Tyr) n.1612T>A c.80T>A (p.Phe27Tyr) c.1385T>A (p.Phe462Tyr) c.81T>A c.1424T>A (p.Phe475Tyr) c.1406T>A (p.Phe469Tyr) | gnomAD v4 |
22 | g.50697644T>C | CA515255072 | SHANK3 | c.1028T>C (p.Phe343Ser) n.1612T>C c.80T>C (p.Phe27Ser) c.1385T>C (p.Phe462Ser) c.81T>C c.1424T>C (p.Phe475Ser) c.1406T>C (p.Phe469Ser) | gnomAD v4 |
22 | g.50697644T>G | CA515255073 | SHANK3 | c.1028T>G (p.Phe343Cys) n.1612T>G c.80T>G (p.Phe27Cys) c.1385T>G (p.Phe462Cys) c.81T>G c.1424T>G (p.Phe475Cys) c.1406T>G (p.Phe469Cys) | |
22 | g.50697645C>A | CA515255074 | SHANK3 | c.1029C>A (p.Phe343Leu) n.1613C>A c.81C>A (p.Phe27Leu) c.1386C>A (p.Phe462Leu) c.82C>A c.1425C>A (p.Phe475Leu) c.1407C>A (p.Phe469Leu) | gnomAD v4 |
22 | g.50697645C>G | CA515255075 | SHANK3 | c.1029C>G (p.Phe343Leu) n.1613C>G c.81C>G (p.Phe27Leu) c.1386C>G (p.Phe462Leu) c.82C>G c.1425C>G (p.Phe475Leu) c.1407C>G (p.Phe469Leu) | |
22 | g.50697645C>T | CA515255076 | SHANK3 | c.1029C>T (p.Phe343=) n.1613C>T c.81C>T (p.Phe27=) c.1386C>T (p.Phe462=) c.82C>T c.1425C>T (p.Phe475=) c.1407C>T (p.Phe469=) | gnomAD v4 |
22 | g.50697646A>C | CA515255077 | SHANK3 | c.1030A>C (p.Ile344Leu) n.1614A>C c.82A>C (p.Ile28Leu) c.1387A>C (p.Ile463Leu) c.83A>C c.1426A>C (p.Ile476Leu) c.1408A>C (p.Ile470Leu) | gnomAD v4 |
22 | g.50697646A>G | CA515255079 | SHANK3 | c.1030A>G (p.Ile344Val) n.1614A>G c.82A>G (p.Ile28Val) c.1387A>G (p.Ile463Val) c.83A>G c.1426A>G (p.Ile476Val) c.1408A>G (p.Ile470Val) | gnomAD v4 |
22 | g.50697646A>T | CA515255078 | SHANK3 | c.1030A>T (p.Ile344Phe) n.1614A>T c.82A>T (p.Ile28Phe) c.1387A>T (p.Ile463Phe) c.83A>T c.1426A>T (p.Ile476Phe) c.1408A>T (p.Ile470Phe) | gnomAD v4 |
22 | g.50697647T>A | CA515255080 | SHANK3 | c.1031T>A (p.Ile344Asn) n.1615T>A c.83T>A (p.Ile28Asn) c.1388T>A (p.Ile463Asn) c.84T>A c.1427T>A (p.Ile476Asn) c.1409T>A (p.Ile470Asn) | gnomAD v4 |
22 | g.50697647T>C | CA515255081 | SHANK3 | c.1031T>C (p.Ile344Thr) n.1615T>C c.83T>C (p.Ile28Thr) c.1388T>C (p.Ile463Thr) c.84T>C c.1427T>C (p.Ile476Thr) c.1409T>C (p.Ile470Thr) | gnomAD v4 |
22 | g.50697647T>G | CA515255082 | SHANK3 | c.1031T>G (p.Ile344Ser) n.1615T>G c.83T>G (p.Ile28Ser) c.1388T>G (p.Ile463Ser) c.84T>G c.1427T>G (p.Ile476Ser) c.1409T>G (p.Ile470Ser) | |
22 | g.50697648C>A | CA515255083 | SHANK3 | c.1032C>A (p.Ile344=) n.1616C>A c.84C>A (p.Ile28=) c.1389C>A (p.Ile463=) c.85C>A c.1428C>A (p.Ile476=) c.1410C>A (p.Ile470=) | gnomAD v4 |
22 | g.50697648C= | CA2410995390 | SHANK3 | c.1032C= (p.Ile344=) n.1616C= c.84C= (p.Ile28=) c.1389C= (p.Ile463=) c.85C= c.1428C= (p.Ile476=) c.1410C= (p.Ile470=) | |
22 | g.50697648C>G | CA515255084 | SHANK3 | c.1032C>G (p.Ile344Met) n.1616C>G c.84C>G (p.Ile28Met) c.1389C>G (p.Ile463Met) c.85C>G c.1428C>G (p.Ile476Met) c.1410C>G (p.Ile470Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697648C>T | CA10325525 | SHANK3 | c.1032C>T (p.Ile344=) n.1616C>T c.84C>T (p.Ile28=) c.1389C>T (p.Ile463=) c.85C>T c.1428C>T (p.Ile476=) c.1410C>T (p.Ile470=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697649G>A | CA515255085 | SHANK3 | c.1033G>A (p.Ala345Thr) n.1617G>A c.85G>A (p.Ala29Thr) c.1390G>A (p.Ala464Thr) c.86G>A c.1429G>A (p.Ala477Thr) c.1411G>A (p.Ala471Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697649G>C | CA515255086 | SHANK3 | c.1033G>C (p.Ala345Pro) n.1617G>C c.85G>C (p.Ala29Pro) c.1390G>C (p.Ala464Pro) c.86G>C c.1429G>C (p.Ala477Pro) c.1411G>C (p.Ala471Pro) | gnomAD v4 |
22 | g.50697649G= | CA2410995391 | SHANK3 | c.1033G= (p.Ala345=) n.1617G= c.85G= (p.Ala29=) c.1390G= (p.Ala464=) c.86G= c.1429G= (p.Ala477=) c.1411G= (p.Ala471=) | |
22 | g.50697649G>T | CA515255087 | SHANK3 | c.1033G>T (p.Ala345Ser) n.1617G>T c.85G>T (p.Ala29Ser) c.1390G>T (p.Ala464Ser) c.86G>T c.1429G>T (p.Ala477Ser) c.1411G>T (p.Ala471Ser) | gnomAD v4 |
22 | g.50697659_50697715del | CA2657598927 | SHANK3 | c.1043_1099del (p.Ala348_Lys366del) n.1627_1683del c.95_151del (p.Ala32_Lys50del) c.1400_1456del (p.Ala467_Lys485del) c.96_152del c.1439_1495del (p.Ala480_Lys498del) c.1421_1477del (p.Ala474_Lys492del) | gnomAD v4 |
22 | g.50697650C>A | CA515255088 | SHANK3 | c.1034C>A (p.Ala345Asp) n.1618C>A c.86C>A (p.Ala29Asp) c.1391C>A (p.Ala464Asp) c.87C>A c.1430C>A (p.Ala477Asp) c.1412C>A (p.Ala471Asp) | gnomAD v4 |
22 | g.50697650C>G | CA515255089 | SHANK3 | c.1034C>G (p.Ala345Gly) n.1618C>G c.86C>G (p.Ala29Gly) c.1391C>G (p.Ala464Gly) c.87C>G c.1430C>G (p.Ala477Gly) c.1412C>G (p.Ala471Gly) | |
22 | g.50697650C>T | CA515255090 | SHANK3 | c.1034C>T (p.Ala345Val) n.1618C>T c.86C>T (p.Ala29Val) c.1391C>T (p.Ala464Val) c.87C>T c.1430C>T (p.Ala477Val) c.1412C>T (p.Ala471Val) | gnomAD v4 |
22 | g.50697651C>A | CA10325526 | SHANK3 | c.1035C>A (p.Ala345=) n.1619C>A c.87C>A (p.Ala29=) c.1392C>A (p.Ala464=) c.88C>A c.1431C>A (p.Ala477=) c.1413C>A (p.Ala471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697651C= | CA2410995392 | SHANK3 | c.1035C= (p.Ala345=) n.1619C= c.87C= (p.Ala29=) c.1392C= (p.Ala464=) c.88C= c.1431C= (p.Ala477=) c.1413C= (p.Ala471=) | |
22 | g.50697651C>G | CA515255092 | SHANK3 | c.1035C>G (p.Ala345=) n.1619C>G c.87C>G (p.Ala29=) c.1392C>G (p.Ala464=) c.88C>G c.1431C>G (p.Ala477=) c.1413C>G (p.Ala471=) | gnomAD v4 |
22 | g.50697651C>T | CA515255091 | SHANK3 | c.1035C>T (p.Ala345=) n.1619C>T c.87C>T (p.Ala29=) c.1392C>T (p.Ala464=) c.88C>T c.1431C>T (p.Ala477=) c.1413C>T (p.Ala471=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697652del | CA2657598944 | SHANK3 | c.1036del (p.Val346Ter) n.1620del c.88del (p.Val30Ter) c.1393del (p.Val465Ter) c.89del c.1432del (p.Val478Ter) c.1414del (p.Val472Ter) | gnomAD v4 |
22 | g.50697652G>A | CA515255093 | SHANK3 | c.1036G>A (p.Val346Met) n.1620G>A c.88G>A (p.Val30Met) c.1393G>A (p.Val465Met) c.89G>A c.1432G>A (p.Val478Met) c.1414G>A (p.Val472Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697652G>C | CA515255094 | SHANK3 | c.1036G>C (p.Val346Leu) n.1620G>C c.88G>C (p.Val30Leu) c.1393G>C (p.Val465Leu) c.89G>C c.1432G>C (p.Val478Leu) c.1414G>C (p.Val472Leu) | |
22 | g.50697652G= | CA2410995393 | SHANK3 | c.1036G= (p.Val346=) n.1620G= c.88G= (p.Val30=) c.1393G= (p.Val465=) c.89G= c.1432G= (p.Val478=) c.1414G= (p.Val472=) | |
22 | g.50697652G>T | CA515255095 | SHANK3 | c.1036G>T (p.Val346Leu) n.1620G>T c.88G>T (p.Val30Leu) c.1393G>T (p.Val465Leu) c.89G>T c.1432G>T (p.Val478Leu) c.1414G>T (p.Val472Leu) | gnomAD v4 |
22 | g.50697661_50697682del | CA2657598945 | SHANK3 | c.1045_1066del (p.His349ArgfsTer10) n.1629_1650del c.97_118del (p.His33ArgfsTer10) c.1402_1423del (p.His468ArgfsTer10) c.98_119del c.1441_1462del (p.His481ArgfsTer10) c.1423_1444del (p.His475ArgfsTer10) | gnomAD v4 |
22 | g.50697653T>A | CA515255096 | SHANK3 | c.1037T>A (p.Val346Glu) n.1621T>A c.89T>A (p.Val30Glu) c.1394T>A (p.Val465Glu) c.90T>A c.1433T>A (p.Val478Glu) c.1415T>A (p.Val472Glu) | gnomAD v4 |
22 | g.50697653T>C | CA515255097 | SHANK3 | c.1037T>C (p.Val346Ala) n.1621T>C c.89T>C (p.Val30Ala) c.1394T>C (p.Val465Ala) c.90T>C c.1433T>C (p.Val478Ala) c.1415T>C (p.Val472Ala) | gnomAD v4 |
22 | g.50697653T>G | CA515255098 | SHANK3 | c.1037T>G (p.Val346Gly) n.1621T>G c.89T>G (p.Val30Gly) c.1394T>G (p.Val465Gly) c.90T>G c.1433T>G (p.Val478Gly) c.1415T>G (p.Val472Gly) | |
22 | g.50697654G>A | CA515255099 | SHANK3 | c.1038G>A (p.Val346=) n.1622G>A c.90G>A (p.Val30=) c.1395G>A (p.Val465=) c.91G>A c.1434G>A (p.Val478=) c.1416G>A (p.Val472=) | gnomAD v4 |
22 | g.50697654G>C | CA515255100 | SHANK3 | c.1038G>C (p.Val346=) n.1622G>C c.90G>C (p.Val30=) c.1395G>C (p.Val465=) c.91G>C c.1434G>C (p.Val478=) c.1416G>C (p.Val472=) | gnomAD v4 |
22 | g.50697654G>T | CA515255101 | SHANK3 | c.1038G>T (p.Val346=) n.1622G>T c.90G>T (p.Val30=) c.1395G>T (p.Val465=) c.91G>T c.1434G>T (p.Val478=) c.1416G>T (p.Val472=) | gnomAD v4 |
22 | g.50697654_50697655delinsGA | CA2410995394 | SHANK3 | c.1038_1039delinsGA (p.Val346=) n.1622_1623delinsGA c.90_91delinsGA (p.Val30=) c.1395_1396delinsGA (p.Val465=) c.91_92delinsGA c.1434_1435delinsGA (p.Val478=) c.1416_1417delinsGA (p.Val472=) | |
22 | g.50697655A>C | CA515255102 | SHANK3 | c.1039A>C (p.Lys347Gln) n.1623A>C c.91A>C (p.Lys31Gln) c.1396A>C (p.Lys466Gln) c.92A>C c.1435A>C (p.Lys479Gln) c.1417A>C (p.Lys473Gln) | |
22 | g.50697655A>G | CA515255103 | SHANK3 | c.1039A>G (p.Lys347Glu) n.1623A>G c.91A>G (p.Lys31Glu) c.1396A>G (p.Lys466Glu) c.92A>G c.1435A>G (p.Lys479Glu) c.1417A>G (p.Lys473Glu) | gnomAD v4 |
22 | g.50697655A>T | CA515255104 | SHANK3 | c.1039A>T (p.Lys347Ter) n.1623A>T c.91A>T (p.Lys31Ter) c.1396A>T (p.Lys466Ter) c.92A>T c.1435A>T (p.Lys479Ter) c.1417A>T (p.Lys473Ter) | gnomAD v4 |
22 | g.50697656del | CA640359027 | SHANK3 | c.1040del (p.Lys347ArgfsTer19) n.1624del c.92del (p.Lys31ArgfsTer19) c.1397del (p.Lys466ArgfsTer19) c.93del c.1436del (p.Lys479ArgfsTer19) c.1418del (p.Lys473ArgfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697656A>C | CA515255107 | SHANK3 | c.1040A>C (p.Lys347Thr) n.1624A>C c.92A>C (p.Lys31Thr) c.1397A>C (p.Lys466Thr) c.93A>C c.1436A>C (p.Lys479Thr) c.1418A>C (p.Lys473Thr) | gnomAD v4 |
22 | g.50697656A>G | CA515255106 | SHANK3 | c.1040A>G (p.Lys347Arg) n.1624A>G c.92A>G (p.Lys31Arg) c.1397A>G (p.Lys466Arg) c.93A>G c.1436A>G (p.Lys479Arg) c.1418A>G (p.Lys473Arg) | gnomAD v4 |
22 | g.50697656A>T | CA515255105 | SHANK3 | c.1040A>T (p.Lys347Met) n.1624A>T c.92A>T (p.Lys31Met) c.1397A>T (p.Lys466Met) c.93A>T c.1436A>T (p.Lys479Met) c.1418A>T (p.Lys473Met) | gnomAD v4 |
22 | g.50697657G>A | CA515255108 | SHANK3 | c.1041G>A (p.Lys347=) n.1625G>A c.93G>A (p.Lys31=) c.1398G>A (p.Lys466=) c.94G>A c.1437G>A (p.Lys479=) c.1419G>A (p.Lys473=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697657G>C | CA515255109 | SHANK3 | c.1041G>C (p.Lys347Asn) n.1625G>C c.93G>C (p.Lys31Asn) c.1398G>C (p.Lys466Asn) c.94G>C c.1437G>C (p.Lys479Asn) c.1419G>C (p.Lys473Asn) | gnomAD v4 |
22 | g.50697657G= | CA2410995395 | SHANK3 | c.1041G= (p.Lys347=) n.1625G= c.93G= (p.Lys31=) c.1398G= (p.Lys466=) c.94G= c.1437G= (p.Lys479=) c.1419G= (p.Lys473=) | |
22 | g.50697657G>T | CA515255110 | SHANK3 | c.1041G>T (p.Lys347Asn) n.1625G>T c.93G>T (p.Lys31Asn) c.1398G>T (p.Lys466Asn) c.94G>T c.1437G>T (p.Lys479Asn) c.1419G>T (p.Lys473Asn) | gnomAD v4 |
22 | g.50697658G>A | CA515255111 | SHANK3 | c.1042G>A (p.Ala348Thr) n.1626G>A c.94G>A (p.Ala32Thr) c.1399G>A (p.Ala467Thr) c.95G>A c.1438G>A (p.Ala480Thr) c.1420G>A (p.Ala474Thr) | gnomAD v4 |
22 | g.50697658G>C | CA515255112 | SHANK3 | c.1042G>C (p.Ala348Pro) n.1626G>C c.94G>C (p.Ala32Pro) c.1399G>C (p.Ala467Pro) c.95G>C c.1438G>C (p.Ala480Pro) c.1420G>C (p.Ala474Pro) | gnomAD v4 |
22 | g.50697658G>T | CA515255113 | SHANK3 | c.1042G>T (p.Ala348Ser) n.1626G>T c.94G>T (p.Ala32Ser) c.1399G>T (p.Ala467Ser) c.95G>T c.1438G>T (p.Ala480Ser) c.1420G>T (p.Ala474Ser) | gnomAD v4 |
22 | g.50697659C>A | CA515255114 | SHANK3 | c.1043C>A (p.Ala348Glu) n.1627C>A c.95C>A (p.Ala32Glu) c.1400C>A (p.Ala467Glu) c.96C>A c.1439C>A (p.Ala480Glu) c.1421C>A (p.Ala474Glu) | gnomAD v4 |
22 | g.50697659C= | CA2410995396 | SHANK3 | c.1043C= (p.Ala348=) n.1627C= c.95C= (p.Ala32=) c.1400C= (p.Ala467=) c.96C= c.1439C= (p.Ala480=) c.1421C= (p.Ala474=) | |
22 | g.50697659C>G | CA515255115 | SHANK3 | c.1043C>G (p.Ala348Gly) n.1627C>G c.95C>G (p.Ala32Gly) c.1400C>G (p.Ala467Gly) c.96C>G c.1439C>G (p.Ala480Gly) c.1421C>G (p.Ala474Gly) | gnomAD v4 |
22 | g.50697659C>T | CA515255116 | SHANK3 | c.1043C>T (p.Ala348Val) n.1627C>T c.95C>T (p.Ala32Val) c.1400C>T (p.Ala467Val) c.96C>T c.1439C>T (p.Ala480Val) c.1421C>T (p.Ala474Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697660G>A | CA515255117 | SHANK3 | c.1044G>A (p.Ala348=) n.1628G>A c.96G>A (p.Ala32=) c.1401G>A (p.Ala467=) c.97G>A c.1440G>A (p.Ala480=) c.1422G>A (p.Ala474=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697660G>C | CA515255118 | SHANK3 | c.1044G>C (p.Ala348=) n.1628G>C c.96G>C (p.Ala32=) c.1401G>C (p.Ala467=) c.97G>C c.1440G>C (p.Ala480=) c.1422G>C (p.Ala474=) | gnomAD v4 |
22 | g.50697660G= | CA2410995397 | SHANK3 | c.1044G= (p.Ala348=) n.1628G= c.96G= (p.Ala32=) c.1401G= (p.Ala467=) c.97G= c.1440G= (p.Ala480=) c.1422G= (p.Ala474=) | |
22 | g.50697660G>T | CA515255119 | SHANK3 | c.1044G>T (p.Ala348=) n.1628G>T c.96G>T (p.Ala32=) c.1401G>T (p.Ala467=) c.97G>T c.1440G>T (p.Ala480=) c.1422G>T (p.Ala474=) | dbSNP gnomAD v4 |
22 | g.50697661del | CA2657598971 | SHANK3 | c.1045del (p.His349ThrfsTer17) n.1629del c.97del (p.His33ThrfsTer17) c.1402del (p.His468ThrfsTer17) c.98del c.1441del (p.His481ThrfsTer17) c.1423del (p.His475ThrfsTer17) | gnomAD v4 |
22 | g.50697661C>A | CA515255122 | SHANK3 | c.1045C>A (p.His349Asn) n.1629C>A c.97C>A (p.His33Asn) c.1402C>A (p.His468Asn) c.98C>A c.1441C>A (p.His481Asn) c.1423C>A (p.His475Asn) | gnomAD v4 |
22 | g.50697661C>G | CA515255121 | SHANK3 | c.1045C>G (p.His349Asp) n.1629C>G c.97C>G (p.His33Asp) c.1402C>G (p.His468Asp) c.98C>G c.1441C>G (p.His481Asp) c.1423C>G (p.His475Asp) | |
22 | g.50697661C>T | CA515255120 | SHANK3 | c.1045C>T (p.His349Tyr) n.1629C>T c.97C>T (p.His33Tyr) c.1402C>T (p.His468Tyr) c.98C>T c.1441C>T (p.His481Tyr) c.1423C>T (p.His475Tyr) | gnomAD v4 |
22 | g.50697662A>C | CA515255123 | SHANK3 | c.1046A>C (p.His349Pro) n.1630A>C c.98A>C (p.His33Pro) c.1403A>C (p.His468Pro) c.99A>C c.1442A>C (p.His481Pro) c.1424A>C (p.His475Pro) | |
22 | g.50697662A>G | CA515255125 | SHANK3 | c.1046A>G (p.His349Arg) n.1630A>G c.98A>G (p.His33Arg) c.1403A>G (p.His468Arg) c.99A>G c.1442A>G (p.His481Arg) c.1424A>G (p.His475Arg) | gnomAD v4 |
22 | g.50697662A>T | CA515255124 | SHANK3 | c.1046A>T (p.His349Leu) n.1630A>T c.98A>T (p.His33Leu) c.1403A>T (p.His468Leu) c.99A>T c.1442A>T (p.His481Leu) c.1424A>T (p.His475Leu) | gnomAD v4 |