Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50697502_50697596delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCCCA2410995259SHANK3c.948-62_980delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC
n.1532-62_1564delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC
c.1305-62_1337delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC
c.1345-63_1376delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC
c.1326-62_1358delinsGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCC
22g.50697504_50697597delCA1026686745SHANK3c.948-60_981del
n.1532-60_1565del
c.1305-60_1338del
c.1345-61_1377del
c.1326-60_1359del
 dbSNP gnomAD v3 gnomAD v4
22g.50697531_50697580delCA1026686959SHANK3c.948-33_964del
n.1532-33_1548del
c.1305-33_1321del
c.1345-34_1360del
c.1326-33_1342del
 gnomAD v3 gnomAD v4
22g.50697535_50697582delCA2819325422SHANK3c.948-29_966del
n.1532-29_1550del
c.1305-29_1323del
c.1345-30_1362del
c.1326-29_1344del
22g.50697539_50697584delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCA2410995302SHANK3c.948-25_968delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
n.1532-25_1552delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
c.1305-25_1325delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
c.1345-26_1364delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
c.1326-25_1346delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
22g.50697539_50697589delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCA2410995301SHANK3c.948-25_973delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC
n.1532-25_1557delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC
c.1305-25_1330delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC
c.1345-26_1369delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC
c.1326-25_1351delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCAC
22g.50697541_50697585delCA1026687073SHANK3c.948-23_969del
n.1532-23_1553del
c.1305-23_1326del
c.1345-24_1365del
c.1326-23_1347del
 dbSNP gnomAD v3 gnomAD v4
22g.50697541_50697590delCA1026687076SHANK3c.948-23_974del
n.1532-23_1558del
c.1305-23_1331del
c.1345-24_1370del
c.1326-23_1352del
 dbSNP gnomAD v3 gnomAD v4
22g.50697542_50697583delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCA2410995314SHANK3c.948-22_967delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
n.1532-22_1551delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
c.1305-22_1324delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
c.1345-23_1363delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
c.1326-22_1345delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
22g.50697543_50697583delCA1026687230SHANK3c.948-21_967del
n.1532-21_1551del
c.1305-21_1324del
c.1345-22_1363del
c.1326-21_1345del
 dbSNP gnomAD v3 gnomAD v4
22g.50697558_50697582delCA2532220397SHANK3c.948-6_966del
n.1532-6_1550del
c.1305-6_1323del
c.1345-7_1362del
c.1326-6_1344del
22g.50697576_50697584delCA2657598474SHANK3c.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
22g.50697575dupCA2657598510SHANK3c.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
22g.50697571_50697593delCA1026687628SHANK3c.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
22g.50697575_50697590delCA1026687638SHANK3c.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
22g.50697575C>ACA515254872SHANK3c.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
22g.50697575C=CA2410995347SHANK3c.959C= (p.Pro320=)
n.1543C=
c.11C= (p.Pro4=)
c.1316C= (p.Pro439=)
c.12C=
c.1355C= (p.Pro452=)
c.1337C= (p.Pro446=)
22g.50697575C>GCA515254873SHANK3c.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
22g.50697575C>TCA515254874SHANK3c.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
22g.50697575_50697576insGGCGGGCAGGCGGGCGGCGGGCGGCGGGCGGCGGGCGCCA2819325437SHANK3c.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)
22g.50697575_50697576delCA1026687652SHANK3c.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
22g.50697575_50697576insGGAGCCCTGAGCGGGCGCGGCTCGCA640359010SHANK3c.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
22g.50697576T>ACA515254877SHANK3c.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
22g.50697576T>CCA515254876SHANK3c.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
22g.50697576T>GCA515254875SHANK3c.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
22g.50697576T=CA2410995348SHANK3c.960T= (p.Pro320=)
n.1544T=
c.12T= (p.Pro4=)
c.1317T= (p.Pro439=)
c.13T=
c.1356T= (p.Pro452=)
c.1338T= (p.Pro446=)
22g.50697576_50697577insCCA2819325438SHANK3c.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?)
22g.50697576_50697577insCCGGCA2819325439SHANK3c.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?)
22g.50697577G>ACA515254878SHANK3c.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
22g.50697577G>CCA515254880SHANK3c.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
22g.50697577G=CA2410995349SHANK3c.961G= (p.Ala321=)
n.1545G=
c.13G= (p.Ala5=)
c.1318G= (p.Ala440=)
c.14G=
c.1357G= (p.Ala453=)
c.1339G= (p.Ala447=)
22g.50697577G>TCA515254879SHANK3c.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
22g.50697579_50697587dupCA2657598565SHANK3c.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
22g.50697579_50697587delCA2657598564SHANK3c.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
22g.50697578C>ACA515254881SHANK3c.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
22g.50697578C=CA2410995350SHANK3c.962C= (p.Ala321=)
n.1546C=
c.14C= (p.Ala5=)
c.1319C= (p.Ala440=)
c.15C=
c.1358C= (p.Ala453=)
c.1340C= (p.Ala447=)
22g.50697578C>GCA515254882SHANK3c.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
22g.50697578C>TCA515254883SHANK3c.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
22g.50697578_50697579insCGGCA2819325440SHANK3c.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)
22g.50697579G>ACA10325519SHANK3c.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
22g.50697579G>CCA515254884SHANK3c.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
22g.50697579G=CA2410995351SHANK3c.963G= (p.Ala321=)
n.1547G=
c.15G= (p.Ala5=)
c.1320G= (p.Ala440=)
c.16G=
c.1359G= (p.Ala453=)
c.1341G= (p.Ala447=)
22g.50697579G>TCA515254885SHANK3c.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
22g.50697579_50697580insGGCAGGCGCGCGGCCCGGCA2558162360SHANK3c.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)
22g.50697580C>ACA515254886SHANK3c.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
22g.50697580C=CA2410995352SHANK3c.964C= (p.Pro322=)
n.1548C=
c.16C= (p.Pro6=)
c.1321C= (p.Pro441=)
c.17C=
c.1360C= (p.Pro454=)
c.1342C= (p.Pro448=)
22g.50697580C>GCA515254887SHANK3c.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
22g.50697580C>TCA515254888SHANK3c.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
22g.50697585dupCA16621796SHANK3c.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
22g.50697585delCA2577768310SHANK3c.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
22g.50697584_50697585delCA2657598573SHANK3c.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
22g.50697580_50697581insTGGCA754138580SHANK3c.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
22g.50697580_50697581insTGGCGGGAGCGGGCA640359011SHANK3c.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
22g.50697581C>ACA515254889SHANK3c.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
22g.50697581C=CA2410995353SHANK3c.965C= (p.Pro322=)
n.1549C=
c.17C= (p.Pro6=)
c.1322C= (p.Pro441=)
c.18C=
c.1361C= (p.Pro454=)
c.1343C= (p.Pro448=)
22g.50697581C>GCA515254891SHANK3c.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)
22g.50697581C>TCA515254892SHANK3c.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
22g.50697581_50697582insGGGAGCGGGCA754138582SHANK3c.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
22g.50697582C>ACA515254895SHANK3c.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
22g.50697582C=CA2410995354SHANK3c.966C= (p.Pro322=)
n.1550C=
c.18C= (p.Pro6=)
c.1323C= (p.Pro441=)
c.19C=
c.1362C= (p.Pro454=)
c.1344C= (p.Pro448=)
22g.50697582C>GCA515254893SHANK3c.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
22g.50697582C>TCA515254894SHANK3c.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
22g.50697582_50697583insGGGCA1026687680SHANK3c.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
22g.50697582_50697583insTGAGCA640359013SHANK3c.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
22g.50697582_50697583insGGGCGCGGCA640359014SHANK3c.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
22g.50697582_50697583insTGAGCGGGCGCGGCA2657598589SHANK3c.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
22g.50697582_50697583insGGGCGCGGCGGCACGGCA640359012SHANK3c.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
22g.50697582_50697583insTGAGCGGGCGGCTCTTCCGATCTCA2657598591SHANK3c.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
22g.50697583C>ACA515254896SHANK3c.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
22g.50697583C=CA2410995355SHANK3c.967C= (p.Pro323=)
n.1551C=
c.19C= (p.Pro7=)
c.1324C= (p.Pro442=)
c.20C=
c.1363C= (p.Pro455=)
c.1345C= (p.Pro449=)
22g.50697583C>GCA515254897SHANK3c.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
22g.50697583C>TCA515254898SHANK3c.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
22g.50697583_50697584insGGGCGCA640359015SHANK3c.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
22g.50697583_50697584insGGGCGCGGCA754138605SHANK3c.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
22g.50697583_50697584insGCCGCCGGCCTCACA2546940119SHANK3c.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?)
22g.50697584C>ACA515254899SHANK3c.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
22g.50697584C=CA2410995356SHANK3c.968C= (p.Pro323=)
n.1552C=
c.20C= (p.Pro7=)
c.1325C= (p.Pro442=)
c.21C=
c.1364C= (p.Pro455=)
c.1346C= (p.Pro449=)
22g.50697584C>GCA515254900SHANK3c.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
22g.50697584C>TCA515254901SHANK3c.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
22g.50697584_50697585insGGCA2819325441SHANK3c.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)
22g.50697584_50697585insTGAGCA2657598613SHANK3c.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
22g.50697585C>ACA10325520SHANK3c.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
22g.50697585C=CA2410995357SHANK3c.969C= (p.Pro323=)
n.1553C=
c.21C= (p.Pro7=)
c.1326C= (p.Pro442=)
c.22C=
c.1365C= (p.Pro455=)
c.1347C= (p.Pro449=)
22g.50697585C>GCA515254902SHANK3c.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
22g.50697585C>TCA515254903SHANK3c.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
22g.50697585_50697586insATGGAGCGCA640359016SHANK3c.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
22g.50697586delCA2657598629SHANK3c.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
22g.50697586G>ACA325553892SHANK3c.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
22g.50697586G>CCA515254904SHANK3c.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
22g.50697586G=CA2410995358SHANK3c.970G= (p.Ala324=)
n.1554G=
c.22G= (p.Ala8=)
c.1327G= (p.Ala443=)
c.23G=
c.1366G= (p.Ala456=)
c.1348G= (p.Ala450=)
22g.50697586G>TCA515254906SHANK3c.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
22g.50697586_50697587insGGCA2819325442SHANK3c.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)
22g.50697587C>ACA515254909SHANK3c.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
22g.50697587C>GCA515254908SHANK3c.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)
22g.50697587C>TCA515254907SHANK3c.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
22g.50697587_50697590delCA2657598633SHANK3c.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
22g.50697588_50697590delCA2657598632SHANK3c.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
22g.50697588delCA2577768311SHANK3c.972del (p.Pro325ArgfsTer22)
n.1556del
c.24del (p.Pro9ArgfsTer22)
c.1329del (p.Pro444ArgfsTer22)
c.25del
c.1368del (p.Pro457ArgfsTer22)
c.1350del (p.Pro451ArgfsTer22)
22g.50697588A=CA2410995359SHANK3c.972A= (p.Ala324=)
n.1556A=
c.24A= (p.Ala8=)
c.1329A= (p.Ala443=)
c.25A=
c.1368A= (p.Ala456=)
c.1350A= (p.Ala450=)
22g.50697588A>CCA515254913SHANK3c.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
22g.50697588A>GCA515254911SHANK3c.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
22g.50697588A>TCA515254912SHANK3c.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
22g.50697588_50697593delinsACCGCCCA2410995360SHANK3c.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=)
22g.50697588_50697599delCA2819325443SHANK3c.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)
22g.50697588_50697589insGCCGCCGCCGCAGCGCCCGCCGCCCA2544619070SHANK3c.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)
22g.50697589C>ACA515254914SHANK3c.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
22g.50697589C=CA2410995361SHANK3c.973C= (p.Pro325=)
n.1557C=
c.25C= (p.Pro9=)
c.1330C= (p.Pro444=)
c.26C=
c.1369C= (p.Pro457=)
c.1351C= (p.Pro451=)
22g.50697589C>GCA515254915SHANK3c.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
22g.50697589C>TCA515254916SHANK3c.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
22g.50697589_50697590delCA2819325444SHANK3c.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)
22g.50697589_50697593delCA1026687697SHANK3c.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
22g.50697594_50697596delCA2657598643SHANK3c.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
22g.50697592_50697599delCA2524555614SHANK3c.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)
22g.50697589_50697590insGTGCA640359017SHANK3c.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
22g.50697590C>ACA515254919SHANK3c.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
22g.50697590C=CA2410995362SHANK3c.974C= (p.Pro325=)
n.1558C=
c.26C= (p.Pro9=)
c.1331C= (p.Pro444=)
c.27C=
c.1370C= (p.Pro457=)
c.1352C= (p.Pro451=)
22g.50697590C>GCA515254918SHANK3c.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
22g.50697590C>TCA515254917SHANK3c.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
22g.50697591delCA2657598654SHANK3c.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
22g.50697591G>ACA325553894SHANK3c.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
22g.50697591G>CCA515254920SHANK3c.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
22g.50697591G=CA2410995363SHANK3c.975G= (p.Pro325=)
n.1559G=
c.27G= (p.Pro9=)
c.1332G= (p.Pro444=)
c.28G=
c.1371G= (p.Pro457=)
c.1353G= (p.Pro451=)
22g.50697591G>TCA515254921SHANK3c.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
22g.50697591_50697592insGGCA640359018SHANK3c.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
22g.50697592C>ACA515254922SHANK3c.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
22g.50697592C=CA2410995364SHANK3c.976C= (p.Pro326=)
n.1560C=
c.28C= (p.Pro10=)
c.1333C= (p.Pro445=)
c.29C=
c.1372C= (p.Pro458=)
c.1354C= (p.Pro452=)
22g.50697592C>GCA515254923SHANK3c.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
22g.50697592C>TCA515254924SHANK3c.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
22g.50697592_50697593insTCA1026687714SHANK3c.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
22g.50697592_50697593insTCGTGCA2526389926SHANK3c.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)
22g.50697592_50697593insTGGCGGGAGCA640359019SHANK3c.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
22g.50697592_50697593insTGGCGGGAGCGGGCCGGGCA2819325445SHANK3c.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)
22g.50697593C>ACA515254925SHANK3c.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
22g.50697593C=CA2410995365SHANK3c.977C= (p.Pro326=)
n.1561C=
c.29C= (p.Pro10=)
c.1334C= (p.Pro445=)
c.30C=
c.1373C= (p.Pro458=)
c.1355C= (p.Pro452=)
22g.50697593C>GCA515254926SHANK3c.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
22g.50697593C>TCA325553900SHANK3c.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
22g.50697594_50697595delCA2657598663SHANK3c.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
22g.50697594delCA2657598669SHANK3c.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
22g.50697594G>ACA515254928SHANK3c.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
22g.50697594G>CCA515254929SHANK3c.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
22g.50697594G=CA2410995366SHANK3c.978G= (p.Pro326=)
n.1562G=
c.30G= (p.Pro10=)
c.1335G= (p.Pro445=)
c.31G=
c.1374G= (p.Pro458=)
c.1356G= (p.Pro452=)
22g.50697594G>TCA515254930SHANK3c.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
22g.50697594_50697595insGGCA1026687719SHANK3c.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
22g.50697594_50697595insTGCA1026687724SHANK3c.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
22g.50697594_50697695delCA2819325446SHANK3c.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)
22g.50697594_50697595insGGCCA640359020SHANK3c.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
22g.50697595C>ACA515254931SHANK3c.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
22g.50697595C=CA2410995367SHANK3c.979C= (p.Pro327=)
n.1563C=
c.31C= (p.Pro11=)
c.1336C= (p.Pro446=)
c.32C=
c.1375C= (p.Pro459=)
c.1357C= (p.Pro453=)
22g.50697595C>GCA515254932SHANK3c.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
22g.50697595C>TCA515254933SHANK3c.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
22g.50697598delCA2577768312SHANK3c.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
22g.50697595_50697596insGGCGGCA2819325447SHANK3c.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)
22g.50697595_50697596insTGGCGGGAGCGGGCA2564055433SHANK3c.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)
22g.50697596C>ACA515254934SHANK3c.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
22g.50697596C=CA2410995368SHANK3c.980C= (p.Pro327=)
n.1564C=
c.32C= (p.Pro11=)
c.1337C= (p.Pro446=)
c.33C=
c.1376C= (p.Pro459=)
c.1358C= (p.Pro453=)
22g.50697596C>GCA515254935SHANK3c.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
22g.50697596C>TCA515254936SHANK3c.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
22g.50697596_50697600delCA2657598678SHANK3c.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
22g.50697597C>ACA515254937SHANK3c.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
22g.50697597C>GCA515254938SHANK3c.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=)
22g.50697597C>TCA515254939SHANK3c.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
22g.50697597_50697598insGTGCA2657598689SHANK3c.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
22g.50697597_50697598insTGGCA1026687736SHANK3c.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
22g.50697597_50697598insGGGCGCA2561017072SHANK3c.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)
22g.50697598C>ACA515254941SHANK3c.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
22g.50697598C=CA2410995369SHANK3c.982C= (p.Arg328=)
n.1566C=
c.34C= (p.Arg12=)
c.1339C= (p.Arg447=)
c.35C=
c.1378C= (p.Arg460=)
c.1360C= (p.Arg454=)
22g.50697598C>GCA325553906SHANK3c.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
22g.50697598C>TCA515254940SHANK3c.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
22g.50697603_50697604insGGCGGTGCGGGGCCA2657598690SHANK3c.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
22g.50697598_50697599insACA2657598694SHANK3c.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
22g.50697598_50697599insTCA2657598696SHANK3c.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
22g.50697598_50697599insCGGCGGGCAGGCGGGCGGCGGTGCGCA1026687739SHANK3c.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
22g.50697599G>ACA515254942SHANK3c.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
22g.50697599G>CCA515254943SHANK3c.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
22g.50697599G=CA2410995370SHANK3c.983G= (p.Arg328=)
n.1567G=
c.35G= (p.Arg12=)
c.1340G= (p.Arg447=)
c.36G=
c.1379G= (p.Arg460=)
c.1361G= (p.Arg454=)
22g.50697599G>TCA515254944SHANK3c.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
22g.50697602dupCA2657598695SHANK3c.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
22g.50697602delCA2657598698SHANK3c.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
22g.50697599_50697600insCTCA2657598711SHANK3c.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
22g.50697600G>ACA515254945SHANK3c.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
22g.50697600G>CCA515254946SHANK3c.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
22g.50697600G=CA2410995371SHANK3c.984G= (p.Arg328=)
n.1568G=
c.36G= (p.Arg12=)
c.1341G= (p.Arg447=)
c.37G=
c.1380G= (p.Arg460=)
c.1362G= (p.Arg454=)
22g.50697600G>TCA515254947SHANK3c.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
22g.50697600_50697601insCGCA640359021SHANK3c.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
22g.50697601G>ACA515254950SHANK3c.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
22g.50697601G>CCA515254949SHANK3c.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
22g.50697601G>TCA515254948SHANK3c.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
22g.50697601_50697602insCGCGGCGGCACGCA640359022SHANK3c.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
22g.50697601_50697607delCA1026687748SHANK3c.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
22g.50697602G>ACA515254951SHANK3c.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
22g.50697602G>CCA515254952SHANK3c.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
22g.50697602G=CA2410995372SHANK3c.986G= (p.Gly329=)
n.1570G=
c.38G= (p.Gly13=)
c.1343G= (p.Gly448=)
c.39G=
c.1382G= (p.Gly461=)
c.1364G= (p.Gly455=)
22g.50697602G>TCA515254953SHANK3c.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
22g.50697602_50697604delCA2657598726SHANK3c.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
22g.50697602_50697607delCA1026687753SHANK3c.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
22g.50697603C>ACA515254954SHANK3c.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
22g.50697603C=CA2410995373SHANK3c.987C= (p.Gly329=)
n.1571C=
c.39C= (p.Gly13=)
c.1344C= (p.Gly448=)
c.40C=
c.1383C= (p.Gly461=)
c.1365C= (p.Gly455=)
22g.50697603C>GCA515254955SHANK3c.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
22g.50697603C>TCA515254956SHANK3c.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
22g.50697605delCA2657598731SHANK3c.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
22g.50697603_50697604insAGGCA640359023SHANK3c.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
22g.50697604C>ACA515254957SHANK3c.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
22g.50697604C>GCA515254959SHANK3c.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
22g.50697604C>TCA515254958SHANK3c.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
22g.50697605C>ACA515254960SHANK3c.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
22g.50697605C=CA2410995374SHANK3c.989C= (p.Pro330=)
n.1573C=
c.41C= (p.Pro14=)
c.1346C= (p.Pro449=)
c.42C=
c.1385C= (p.Pro462=)
c.1367C= (p.Pro456=)
22g.50697605C>GCA515254961SHANK3c.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
22g.50697605C>TCA515254962SHANK3c.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
22g.50697605_50697606insATCA640359024SHANK3c.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
22g.50697606G>ACA515254963SHANK3c.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
22g.50697606G>CCA515254964SHANK3c.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
22g.50697606G>TCA515254965SHANK3c.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
22g.50697607A=CA2410995375SHANK3c.991A= (p.Lys331=)
n.1575A=
c.43A= (p.Lys15=)
c.1348A= (p.Lys450=)
c.44A=
c.1387A= (p.Lys463=)
c.1369A= (p.Lys457=)
22g.50697607A>CCA515254966SHANK3c.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)
22g.50697607A>GCA515254967SHANK3c.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
22g.50697607A>TCA515254968SHANK3c.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
22g.50697607_50697608delCA1026687767SHANK3c.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
22g.50697608delCA2657598746SHANK3c.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
22g.50697607_50697610delCA2657598747SHANK3c.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
22g.50697608A=CA2410995376SHANK3c.992A= (p.Lys331=)
n.1576A=
c.44A= (p.Lys15=)
c.1349A= (p.Lys450=)
c.45A=
c.1388A= (p.Lys463=)
c.1370A= (p.Lys457=)
22g.50697608A>CCA515254969SHANK3c.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
22g.50697608A>GCA515254970SHANK3c.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
22g.50697608A>TCA515254971SHANK3c.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
22g.50697609G>ACA515254972SHANK3c.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
22g.50697609G>CCA515254974SHANK3c.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
22g.50697609G>TCA515254973SHANK3c.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
22g.50697610delCA2657598759SHANK3c.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
22g.50697610C>ACA515254975SHANK3c.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
22g.50697610C>GCA515254976SHANK3c.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
22g.50697610C>TCA515254977SHANK3c.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
22g.50697611_50697621dupCA2580099957SHANK3c.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
22g.50697611G>ACA515254978SHANK3c.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
22g.50697611G>CCA515254979SHANK3c.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
22g.50697611G>TCA515254980SHANK3c.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
22g.50697611_50697612insCTGCA2657598768SHANK3c.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
22g.50697612dupCA2657598769SHANK3c.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
22g.50697612G>ACA515254981SHANK3c.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
22g.50697612G>CCA325553932SHANK3c.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
22g.50697612G=CA2410995378SHANK3c.996G= (p.Arg332=)
n.1580G=
c.48G= (p.Arg16=)
c.1353G= (p.Arg451=)
c.49G=
c.1392G= (p.Arg464=)
c.1374G= (p.Arg458=)
22g.50697612G>TCA515254982SHANK3c.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
22g.50697612_50697615delinsGAAACA2410995377SHANK3c.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=)
22g.50697613A>CCA515254983SHANK3c.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)
22g.50697613A>GCA515254984SHANK3c.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
22g.50697613A>TCA515254985SHANK3c.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
22g.50697613_50697615delCA640359025SHANK3c.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
22g.50697615delCA2657598779SHANK3c.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
22g.50697613_50697622delCA2819325448SHANK3c.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)
22g.50697613_50697624delCA1026687777SHANK3c.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
22g.50697614A>CCA515254988SHANK3c.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
22g.50697614A>GCA515254987SHANK3c.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
22g.50697614A>TCA515254986SHANK3c.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)
22g.50697614_50697615insGATCTACTACA2657598782SHANK3c.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
22g.50697615A>CCA515254989SHANK3c.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
22g.50697615A>GCA515254990SHANK3c.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
22g.50697615A>TCA515254991SHANK3c.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)
22g.50697616C>ACA515254992SHANK3c.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
22g.50697616C>GCA515254993SHANK3c.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)
22g.50697616C>TCA515254994SHANK3c.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
22g.50697617T>ACA515254995SHANK3c.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)
22g.50697617T>CCA515254996SHANK3c.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
22g.50697617T>GCA515254997SHANK3c.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
22g.50697619delCA2657598789SHANK3c.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
22g.50697618T>ACA515254998SHANK3c.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
22g.50697618T>CCA515254999SHANK3c.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
22g.50697618T>GCA515255000SHANK3c.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=)
22g.50697619T>ACA515255001SHANK3c.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)
22g.50697619T>CCA515255003SHANK3c.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
22g.50697619T>GCA515255002SHANK3c.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)
22g.50697620A=CA2410995379SHANK3c.1004A= (p.Tyr335=)
n.1588A=
c.56A= (p.Tyr19=)
c.1361A= (p.Tyr454=)
c.57A=
c.1400A= (p.Tyr467=)
c.1382A= (p.Tyr461=)
22g.50697620A>CCA515255004SHANK3c.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)
22g.50697620A>GCA515255005SHANK3c.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
22g.50697620A>TCA10325521SHANK3c.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
22g.50697621_50697622delCA2657598797SHANK3c.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
22g.50697621delCA2819325449SHANK3c.1005del (p.Tyr335Ter)
n.1589del
c.57del (p.Tyr19Ter)
c.1362del (p.Tyr454Ter)
c.58del
c.1401del (p.Tyr467Ter)
c.1383del (p.Tyr461Ter)
22g.50697621C>ACA515255006SHANK3c.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
22g.50697621C=CA2410995380SHANK3c.1005C= (p.Tyr335=)
n.1589C=
c.57C= (p.Tyr19=)
c.1362C= (p.Tyr454=)
c.58C=
c.1401C= (p.Tyr467=)
c.1383C= (p.Tyr461=)
22g.50697621C>GCA515255007SHANK3c.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
22g.50697621C>TCA10325522SHANK3c.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
22g.50697622A>CCA515255008SHANK3c.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
22g.50697622A>GCA515255009SHANK3c.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
22g.50697622A>TCA515255010SHANK3c.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
22g.50697623G>ACA515255011SHANK3c.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
22g.50697623G>CCA515255012SHANK3c.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)
22g.50697623G>TCA515255013SHANK3c.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
22g.50697624C>ACA515255014SHANK3c.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
22g.50697624C=CA2410995381SHANK3c.1008C= (p.Ser336=)
n.1592C=
c.60C= (p.Ser20=)
c.1365C= (p.Ser455=)
c.61C=
c.1404C= (p.Ser468=)
c.1386C= (p.Ser462=)
22g.50697624C>GCA515255015SHANK3c.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
22g.50697624C>TCA515255016SHANK3c.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
22g.50697625G>ACA515255017SHANK3c.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
22g.50697625G>CCA515255018SHANK3c.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
22g.50697625G>TCA515255019SHANK3c.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
22g.50697626C>ACA515255020SHANK3c.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
22g.50697626C>GCA515255022SHANK3c.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
22g.50697626C>TCA515255021SHANK3c.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
22g.50697627C>ACA515255023SHANK3c.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
22g.50697627C=CA2410995382SHANK3c.1011C= (p.Ala337=)
n.1595C=
c.63C= (p.Ala21=)
c.1368C= (p.Ala456=)
c.64C=
c.1407C= (p.Ala469=)
c.1389C= (p.Ala463=)
22g.50697627C>GCA515255024SHANK3c.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
22g.50697627C>TCA10325523SHANK3c.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
22g.50697628G>ACA515255025SHANK3c.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
22g.50697628G>CCA515255026SHANK3c.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)
22g.50697628G=CA2410995383SHANK3c.1012G= (p.Val338=)
n.1596G=
c.64G= (p.Val22=)
c.1369G= (p.Val457=)
c.65G=
c.1408G= (p.Val470=)
c.1390G= (p.Val464=)
22g.50697628G>TCA515255027SHANK3c.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
22g.50697629T>ACA515255028SHANK3c.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)
22g.50697629T>CCA515255029SHANK3c.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
22g.50697629T>GCA515255030SHANK3c.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)
22g.50697629_50697630delinsTCCA2410995384SHANK3c.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=)
22g.50697630C>ACA515255033SHANK3c.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
22g.50697630C=CA2410995385SHANK3c.1014C= (p.Val338=)
n.1598C=
c.66C= (p.Val22=)
c.1371C= (p.Val457=)
c.67C=
c.1410C= (p.Val470=)
c.1392C= (p.Val464=)
22g.50697630C>GCA515255032SHANK3c.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
22g.50697630C>TCA515255031SHANK3c.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
22g.50697633delCA640359026SHANK3c.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
22g.50697631C>ACA515255034SHANK3c.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
22g.50697631C>GCA515255035SHANK3c.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)
22g.50697631C>TCA515255036SHANK3c.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
22g.50697632C>ACA515255037SHANK3c.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
22g.50697632C>GCA515255038SHANK3c.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
22g.50697632C>TCA515255039SHANK3c.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
22g.50697633C>ACA515255040SHANK3c.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
22g.50697633C=CA2410995386SHANK3c.1017C= (p.Pro339=)
n.1601C=
c.69C= (p.Pro23=)
c.1374C= (p.Pro458=)
c.70C=
c.1413C= (p.Pro471=)
c.1395C= (p.Pro465=)
22g.50697633C>GCA515255041SHANK3c.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
22g.50697633C>TCA325553955SHANK3c.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
22g.50697634G>ACA515255042SHANK3c.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
22g.50697634G>CCA515255043SHANK3c.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
22g.50697634G>TCA515255044SHANK3c.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
22g.50697634_50697635delCA2819325450SHANK3c.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)
22g.50697635G>ACA515255047SHANK3c.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
22g.50697635G>CCA515255045SHANK3c.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
22g.50697635G>TCA515255046SHANK3c.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
22g.50697636C>ACA515255048SHANK3c.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
22g.50697636C=CA2410995387SHANK3c.1020C= (p.Gly340=)
n.1604C=
c.72C= (p.Gly24=)
c.1377C= (p.Gly459=)
c.73C=
c.1416C= (p.Gly472=)
c.1398C= (p.Gly466=)
22g.50697636C>GCA515255049SHANK3c.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
22g.50697636C>TCA515255050SHANK3c.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
22g.50697637C>ACA515255051SHANK3c.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
22g.50697637C>GCA515255052SHANK3c.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
22g.50697637C>TCA515255053SHANK3c.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
22g.50697638delCA2657598874SHANK3c.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
22g.50697638G>ACA515255054SHANK3c.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
22g.50697638G>CCA515255055SHANK3c.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
22g.50697638G=CA2410995388SHANK3c.1022G= (p.Arg341=)
n.1606G=
c.74G= (p.Arg25=)
c.1379G= (p.Arg460=)
c.75G=
c.1418G= (p.Arg473=)
c.1400G= (p.Arg467=)
22g.50697638G>TCA515255056SHANK3c.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
22g.50697639C>ACA515255057SHANK3c.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
22g.50697639C>GCA515255058SHANK3c.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
22g.50697639C>TCA515255059SHANK3c.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
22g.50697640A>CCA515255061SHANK3c.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)
22g.50697640A>GCA515255062SHANK3c.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
22g.50697640A>TCA515255060SHANK3c.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
22g.50697641A=CA2410995389SHANK3c.1025A= (p.Lys342=)
n.1609A=
c.77A= (p.Lys26=)
c.1382A= (p.Lys461=)
c.78A=
c.1421A= (p.Lys474=)
c.1403A= (p.Lys468=)
22g.50697641A>CCA515255063SHANK3c.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
22g.50697641A>GCA10325524SHANK3c.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
22g.50697641A>TCA515255064SHANK3c.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
22g.50697642G>ACA515255065SHANK3c.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
22g.50697642G>CCA515255066SHANK3c.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
22g.50697642G>TCA515255067SHANK3c.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
22g.50697643T>ACA515255070SHANK3c.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
22g.50697643T>CCA515255068SHANK3c.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
22g.50697643T>GCA515255069SHANK3c.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)
22g.50697644T>ACA515255071SHANK3c.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
22g.50697644T>CCA515255072SHANK3c.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
22g.50697644T>GCA515255073SHANK3c.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)
22g.50697645C>ACA515255074SHANK3c.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
22g.50697645C>GCA515255075SHANK3c.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)
22g.50697645C>TCA515255076SHANK3c.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
22g.50697646A>CCA515255077SHANK3c.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
22g.50697646A>GCA515255079SHANK3c.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
22g.50697646A>TCA515255078SHANK3c.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
22g.50697647T>ACA515255080SHANK3c.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
22g.50697647T>CCA515255081SHANK3c.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
22g.50697647T>GCA515255082SHANK3c.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)
22g.50697648C>ACA515255083SHANK3c.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
22g.50697648C=CA2410995390SHANK3c.1032C= (p.Ile344=)
n.1616C=
c.84C= (p.Ile28=)
c.1389C= (p.Ile463=)
c.85C=
c.1428C= (p.Ile476=)
c.1410C= (p.Ile470=)
22g.50697648C>GCA515255084SHANK3c.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
22g.50697648C>TCA10325525SHANK3c.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
22g.50697649G>ACA515255085SHANK3c.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
22g.50697649G>CCA515255086SHANK3c.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
22g.50697649G=CA2410995391SHANK3c.1033G= (p.Ala345=)
n.1617G=
c.85G= (p.Ala29=)
c.1390G= (p.Ala464=)
c.86G=
c.1429G= (p.Ala477=)
c.1411G= (p.Ala471=)
22g.50697649G>TCA515255087SHANK3c.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
22g.50697659_50697715delCA2657598927SHANK3c.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
22g.50697650C>ACA515255088SHANK3c.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
22g.50697650C>GCA515255089SHANK3c.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)
22g.50697650C>TCA515255090SHANK3c.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
22g.50697651C>ACA10325526SHANK3c.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
22g.50697651C=CA2410995392SHANK3c.1035C= (p.Ala345=)
n.1619C=
c.87C= (p.Ala29=)
c.1392C= (p.Ala464=)
c.88C=
c.1431C= (p.Ala477=)
c.1413C= (p.Ala471=)
22g.50697651C>GCA515255092SHANK3c.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
22g.50697651C>TCA515255091SHANK3c.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
22g.50697652delCA2657598944SHANK3c.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
22g.50697652G>ACA515255093SHANK3c.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
22g.50697652G>CCA515255094SHANK3c.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)
22g.50697652G=CA2410995393SHANK3c.1036G= (p.Val346=)
n.1620G=
c.88G= (p.Val30=)
c.1393G= (p.Val465=)
c.89G=
c.1432G= (p.Val478=)
c.1414G= (p.Val472=)
22g.50697652G>TCA515255095SHANK3c.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
22g.50697661_50697682delCA2657598945SHANK3c.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
22g.50697653T>ACA515255096SHANK3c.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
22g.50697653T>CCA515255097SHANK3c.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
22g.50697653T>GCA515255098SHANK3c.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)
22g.50697654G>ACA515255099SHANK3c.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
22g.50697654G>CCA515255100SHANK3c.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
22g.50697654G>TCA515255101SHANK3c.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
22g.50697654_50697655delinsGACA2410995394SHANK3c.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=)
22g.50697655A>CCA515255102SHANK3c.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)
22g.50697655A>GCA515255103SHANK3c.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
22g.50697655A>TCA515255104SHANK3c.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
22g.50697656delCA640359027SHANK3c.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
22g.50697656A>CCA515255107SHANK3c.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
22g.50697656A>GCA515255106SHANK3c.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
22g.50697656A>TCA515255105SHANK3c.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
22g.50697657G>ACA515255108SHANK3c.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
22g.50697657G>CCA515255109SHANK3c.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
22g.50697657G=CA2410995395SHANK3c.1041G= (p.Lys347=)
n.1625G=
c.93G= (p.Lys31=)
c.1398G= (p.Lys466=)
c.94G=
c.1437G= (p.Lys479=)
c.1419G= (p.Lys473=)
22g.50697657G>TCA515255110SHANK3c.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
22g.50697658G>ACA515255111SHANK3c.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
22g.50697658G>CCA515255112SHANK3c.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
22g.50697658G>TCA515255113SHANK3c.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
22g.50697659C>ACA515255114SHANK3c.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
22g.50697659C=CA2410995396SHANK3c.1043C= (p.Ala348=)
n.1627C=
c.95C= (p.Ala32=)
c.1400C= (p.Ala467=)
c.96C=
c.1439C= (p.Ala480=)
c.1421C= (p.Ala474=)
22g.50697659C>GCA515255115SHANK3c.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
22g.50697659C>TCA515255116SHANK3c.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
22g.50697660G>ACA515255117SHANK3c.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
22g.50697660G>CCA515255118SHANK3c.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
22g.50697660G=CA2410995397SHANK3c.1044G= (p.Ala348=)
n.1628G=
c.96G= (p.Ala32=)
c.1401G= (p.Ala467=)
c.97G=
c.1440G= (p.Ala480=)
c.1422G= (p.Ala474=)
22g.50697660G>TCA515255119SHANK3c.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
22g.50697661delCA2657598971SHANK3c.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
22g.50697661C>ACA515255122SHANK3c.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
22g.50697661C>GCA515255121SHANK3c.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)
22g.50697661C>TCA515255120SHANK3c.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
22g.50697662A>CCA515255123SHANK3c.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)
22g.50697662A>GCA515255125SHANK3c.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
22g.50697662A>TCA515255124SHANK3c.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
22g.50697663C>ACA515255126SHANK3c.1047C>A (p.His349Gln)
n.1631C>A
c.99C>A (p.His33Gln)
c.1404C>A (p.His468Gln)
c.100C>A
c.1443C>A (p.His481Gln)
c.1425C>A (p.His475Gln)
 gnomAD v4
22g.50697663C=CA2410995398SHANK3c.1047C= (p.His349=)
n.1631C=
c.99C= (p.His33=)
c.1404C= (p.His468=)
c.100C=
c.1443C= (p.His481=)
c.1425C= (p.His475=)
22g.50697663C>GCA515255128SHANK3c.1047C>G (p.His349Gln)
n.1631C>G
c.99C>G (p.His33Gln)
c.1404C>G (p.His468Gln)
c.100C>G
c.1443C>G (p.His481Gln)
c.1425C>G (p.His475Gln)
 gnomAD v4
22g.50697663C>TCA515255127SHANK3c.1047C>T (p.His349=)
n.1631C>T
c.99C>T (p.His33=)
c.1404C>T (p.His468=)
c.100C>T
c.1443C>T (p.His481=)
c.1425C>T (p.His475=)
 dbSNP gnomAD v2 gnomAD v4
22g.50697664A>CCA515255129SHANK3c.1048A>C (p.Ser350Arg)
n.1632A>C
c.100A>C (p.Ser34Arg)
c.1405A>C (p.Ser469Arg)
c.101A>C
c.1444A>C (p.Ser482Arg)
c.1426A>C (p.Ser476Arg)
 gnomAD v4
22g.50697664A>GCA515255131SHANK3c.1048A>G (p.Ser350Gly)
n.1632A>G
c.100A>G (p.Ser34Gly)
c.1405A>G (p.Ser469Gly)
c.101A>G
c.1444A>G (p.Ser482Gly)
c.1426A>G (p.Ser476Gly)
 gnomAD v4
22g.50697664A>TCA515255130SHANK3c.1048A>T (p.Ser350Cys)
n.1632A>T
c.100A>T (p.Ser34Cys)
c.1405A>T (p.Ser469Cys)
c.101A>T
c.1444A>T (p.Ser482Cys)
c.1426A>T (p.Ser476Cys)
 gnomAD v4
22g.50697665G>ACA10325527SHANK3c.1049G>A (p.Ser350Asn)
n.1633G>A
c.101G>A (p.Ser34Asn)
c.1406G>A (p.Ser469Asn)
c.102G>A
c.1445G>A (p.Ser482Asn)
c.1427G>A (p.Ser476Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50697665G>CCA515255133SHANK3c.1049G>C (p.Ser350Thr)
n.1633G>C
c.101G>C (p.Ser34Thr)
c.1406G>C (p.Ser469Thr)
c.102G>C
c.1445G>C (p.Ser482Thr)
c.1427G>C (p.Ser476Thr)
 dbSNP gnomAD v2 gnomAD v4
22g.50697665G=CA2410995399SHANK3c.1049G= (p.Ser350=)
n.1633G=
c.101G= (p.Ser34=)
c.1406G= (p.Ser469=)
c.102G=
c.1445G= (p.Ser482=)
c.1427G= (p.Ser476=)
22g.50697665G>TCA515255132SHANK3c.1049G>T (p.Ser350Ile)
n.1633G>T
c.101G>T (p.Ser34Ile)
c.1406G>T (p.Ser469Ile)
c.102G>T
c.1445G>T (p.Ser482Ile)
c.1427G>T (p.Ser476Ile)
 gnomAD v4
22g.50697666C>ACA515255134SHANK3c.1050C>A (p.Ser350Arg)
n.1634C>A
c.102C>A (p.Ser34Arg)
c.1407C>A (p.Ser469Arg)
c.103C>A
c.1446C>A (p.Ser482Arg)
c.1428C>A (p.Ser476Arg)
 gnomAD v4
22g.50697666C>GCA515255136SHANK3c.1050C>G (p.Ser350Arg)
n.1634C>G
c.102C>G (p.Ser34Arg)
c.1407C>G (p.Ser469Arg)
c.103C>G
c.1446C>G (p.Ser482Arg)
c.1428C>G (p.Ser476Arg)
 gnomAD v4
22g.50697666C>TCA515255135SHANK3c.1050C>T (p.Ser350=)
n.1634C>T
c.102C>T (p.Ser34=)
c.1407C>T (p.Ser469=)
c.103C>T
c.1446C>T (p.Ser482=)
c.1428C>T (p.Ser476=)
 gnomAD v4
22g.50697668delCA2657598987SHANK3c.1052del (p.Pro351ArgfsTer15)
n.1636del
c.104del (p.Pro35ArgfsTer15)
c.1409del (p.Pro470ArgfsTer15)
c.105del
c.1448del (p.Pro483ArgfsTer15)
c.1430del (p.Pro477ArgfsTer15)
 gnomAD v4
22g.50697667C>ACA515255137SHANK3c.1051C>A (p.Pro351Thr)
n.1635C>A
c.103C>A (p.Pro35Thr)
c.1408C>A (p.Pro470Thr)
c.104C>A
c.1447C>A (p.Pro483Thr)
c.1429C>A (p.Pro477Thr)
 gnomAD v4
22g.50697667C>GCA515255138SHANK3c.1051C>G (p.Pro351Ala)
n.1635C>G
c.103C>G (p.Pro35Ala)
c.1408C>G (p.Pro470Ala)
c.104C>G
c.1447C>G (p.Pro483Ala)
c.1429C>G (p.Pro477Ala)
 gnomAD v4
22g.50697667C>TCA515255139SHANK3c.1051C>T (p.Pro351Ser)
n.1635C>T
c.103C>T (p.Pro35Ser)
c.1408C>T (p.Pro470Ser)
c.104C>T
c.1447C>T (p.Pro483Ser)
c.1429C>T (p.Pro477Ser)
 gnomAD v4
22g.50697668C>ACA515255140SHANK3c.1052C>A (p.Pro351Gln)
n.1636C>A
c.104C>A (p.Pro35Gln)
c.1409C>A (p.Pro470Gln)
c.105C>A
c.1448C>A (p.Pro483Gln)
c.1430C>A (p.Pro477Gln)
 gnomAD v4
22g.50697668C=CA2410995400SHANK3c.1052C= (p.Pro351=)
n.1636C=
c.104C= (p.Pro35=)
c.1409C= (p.Pro470=)
c.105C=
c.1448C= (p.Pro483=)
c.1430C= (p.Pro477=)
22g.50697668C>GCA515255141SHANK3c.1052C>G (p.Pro351Arg)
n.1636C>G
c.104C>G (p.Pro35Arg)
c.1409C>G (p.Pro470Arg)
c.105C>G
c.1448C>G (p.Pro483Arg)
c.1430C>G (p.Pro477Arg)
 gnomAD v4
22g.50697668C>TCA515255142SHANK3c.1052C>T (p.Pro351Leu)
n.1636C>T
c.104C>T (p.Pro35Leu)
c.1409C>T (p.Pro470Leu)
c.105C>T
c.1448C>T (p.Pro483Leu)
c.1430C>T (p.Pro477Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50697669delCA2657598999SHANK3c.1053del (p.Gln352ArgfsTer14)
n.1637del
c.105del (p.Gln36ArgfsTer14)
c.1410del (p.Gln471ArgfsTer14)
c.106del
c.1449del (p.Gln484ArgfsTer14)
c.1431del (p.Gln478ArgfsTer14)
 gnomAD v4
22g.50697669G>ACA515255145SHANK3c.1053G>A (p.Pro351=)
n.1637G>A
c.105G>A (p.Pro35=)
c.1410G>A (p.Pro470=)
c.106G>A
c.1449G>A (p.Pro483=)
c.1431G>A (p.Pro477=)
 gnomAD v4
22g.50697669G>CCA515255144SHANK3c.1053G>C (p.Pro351=)
n.1637G>C
c.105G>C (p.Pro35=)
c.1410G>C (p.Pro470=)
c.106G>C
c.1449G>C (p.Pro483=)
c.1431G>C (p.Pro477=)
 gnomAD v4
22g.50697669G=CA2410995401SHANK3c.1053G= (p.Pro351=)
n.1637G=
c.105G= (p.Pro35=)
c.1410G= (p.Pro470=)
c.106G=
c.1449G= (p.Pro483=)
c.1431G= (p.Pro477=)
22g.50697669G>TCA515255143SHANK3c.1053G>T (p.Pro351=)
n.1637G>T
c.105G>T (p.Pro35=)
c.1410G>T (p.Pro470=)
c.106G>T
c.1449G>T (p.Pro483=)
c.1431G>T (p.Pro477=)
 dbSNP gnomAD v2 gnomAD v4
22g.50697670delCA2657599001SHANK3c.1054del (p.Gln352ArgfsTer14)
n.1638del
c.106del (p.Gln36ArgfsTer14)
c.1411del (p.Gln471ArgfsTer14)
c.107del
c.1450del (p.Gln484ArgfsTer14)
c.1432del (p.Gln478ArgfsTer14)
 gnomAD v4
22g.50697670C>ACA515255146SHANK3c.1054C>A (p.Gln352Lys)
n.1638C>A
c.106C>A (p.Gln36Lys)
c.1411C>A (p.Gln471Lys)
c.107C>A
c.1450C>A (p.Gln484Lys)
c.1432C>A (p.Gln478Lys)
 gnomAD v4
22g.50697670C>GCA515255147SHANK3c.1054C>G (p.Gln352Glu)
n.1638C>G
c.106C>G (p.Gln36Glu)
c.1411C>G (p.Gln471Glu)
c.107C>G
c.1450C>G (p.Gln484Glu)
c.1432C>G (p.Gln478Glu)
 gnomAD v4
22g.50697670C>TCA515255148SHANK3c.1054C>T (p.Gln352Ter)
n.1638C>T
c.106C>T (p.Gln36Ter)
c.1411C>T (p.Gln471Ter)
c.107C>T
c.1450C>T (p.Gln484Ter)
c.1432C>T (p.Gln478Ter)
 gnomAD v4
22g.50697670_50697671delCA2657599002SHANK3c.1054_1055del (p.Gln352GlyfsTer2)
n.1638_1639del
c.106_107del (p.Gln36GlyfsTer2)
c.1411_1412del (p.Gln471GlyfsTer2)
c.107_108del
c.1450_1451del (p.Gln484GlyfsTer2)
c.1432_1433del (p.Gln478GlyfsTer2)
 gnomAD v4
22g.50697671delCA2657599003SHANK3c.1055del (p.Gln352ArgfsTer14)
n.1639del
c.107del (p.Gln36ArgfsTer14)
c.1412del (p.Gln471ArgfsTer14)
c.108del
c.1451del (p.Gln484ArgfsTer14)
c.1433del (p.Gln478ArgfsTer14)
 gnomAD v4
22g.50697671A=CA2410995402SHANK3c.1055A= (p.Gln352=)
n.1639A=
c.107A= (p.Gln36=)
c.1412A= (p.Gln471=)
c.108A=
c.1451A= (p.Gln484=)
c.1433A= (p.Gln478=)
22g.50697671A>CCA515255149SHANK3c.1055A>C (p.Gln352Pro)
n.1639A>C
c.107A>C (p.Gln36Pro)
c.1412A>C (p.Gln471Pro)
c.108A>C
c.1451A>C (p.Gln484Pro)
c.1433A>C (p.Gln478Pro)
 gnomAD v4
22g.50697671A>GCA515255150SHANK3c.1055A>G (p.Gln352Arg)
n.1639A>G
c.107A>G (p.Gln36Arg)
c.1412A>G (p.Gln471Arg)
c.108A>G
c.1451A>G (p.Gln484Arg)
c.1433A>G (p.Gln478Arg)
 dbSNP gnomAD v4
22g.50697671A>TCA515255151SHANK3c.1055A>T (p.Gln352Leu)
n.1639A>T
c.107A>T (p.Gln36Leu)
c.1412A>T (p.Gln471Leu)
c.108A>T
c.1451A>T (p.Gln484Leu)
c.1433A>T (p.Gln478Leu)
 gnomAD v4
22g.50697671_50697672delCA2819325451SHANK3c.1055_1056del (p.Gln352ArgfsTer2)
n.1639_1640del
c.107_108del (p.Gln36ArgfsTer2)
c.1412_1413del (p.Gln471ArgfsTer2)
c.108_109del
c.1451_1452del (p.Gln484ArgfsTer2)
c.1433_1434del (p.Gln478ArgfsTer2)
22g.50697672G>ACA515255152SHANK3c.1056G>A (p.Gln352=)
n.1640G>A
c.108G>A (p.Gln36=)
c.1413G>A (p.Gln471=)
c.109G>A
c.1452G>A (p.Gln484=)
c.1434G>A (p.Gln478=)
 gnomAD v4
22g.50697672G>CCA515255154SHANK3c.1056G>C (p.Gln352His)
n.1640G>C
c.108G>C (p.Gln36His)
c.1413G>C (p.Gln471His)
c.109G>C
c.1452G>C (p.Gln484His)
c.1434G>C (p.Gln478His)
22g.50697672G>TCA515255153SHANK3c.1056G>T (p.Gln352His)
n.1640G>T
c.108G>T (p.Gln36His)
c.1413G>T (p.Gln471His)
c.109G>T
c.1452G>T (p.Gln484His)
c.1434G>T (p.Gln478His)
 gnomAD v4
22g.50697674delCA2657599004SHANK3c.1058del (p.Gly353ValfsTer13)
n.1642del
c.110del (p.Gly37ValfsTer13)
c.1415del (p.Gly472ValfsTer13)
c.111del
c.1454del (p.Gly485ValfsTer13)
c.1436del (p.Gly479ValfsTer13)
 gnomAD v4
22g.50697673G>ACA515255155SHANK3c.1057G>A (p.Gly353Ser)
n.1641G>A
c.109G>A (p.Gly37Ser)
c.1414G>A (p.Gly472Ser)
c.110G>A
c.1453G>A (p.Gly485Ser)
c.1435G>A (p.Gly479Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697673G>CCA515255156SHANK3c.1057G>C (p.Gly353Arg)
n.1641G>C
c.109G>C (p.Gly37Arg)
c.1414G>C (p.Gly472Arg)
c.110G>C
c.1453G>C (p.Gly485Arg)
c.1435G>C (p.Gly479Arg)
 gnomAD v4
22g.50697673G=CA2410995403SHANK3c.1057G= (p.Gly353=)
n.1641G=
c.109G= (p.Gly37=)
c.1414G= (p.Gly472=)
c.110G=
c.1453G= (p.Gly485=)
c.1435G= (p.Gly479=)
22g.50697673G>TCA515255157SHANK3c.1057G>T (p.Gly353Cys)
n.1641G>T
c.109G>T (p.Gly37Cys)
c.1414G>T (p.Gly472Cys)
c.110G>T
c.1453G>T (p.Gly485Cys)
c.1435G>T (p.Gly479Cys)
 gnomAD v4
22g.50697674G>ACA515255158SHANK3c.1058G>A (p.Gly353Asp)
n.1642G>A
c.110G>A (p.Gly37Asp)
c.1415G>A (p.Gly472Asp)
c.111G>A
c.1454G>A (p.Gly485Asp)
c.1436G>A (p.Gly479Asp)
 gnomAD v4
22g.50697674G>CCA515255159SHANK3c.1058G>C (p.Gly353Ala)
n.1642G>C
c.110G>C (p.Gly37Ala)
c.1415G>C (p.Gly472Ala)
c.111G>C
c.1454G>C (p.Gly485Ala)
c.1436G>C (p.Gly479Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.50697674G=CA2410995404SHANK3c.1058G= (p.Gly353=)
n.1642G=
c.110G= (p.Gly37=)
c.1415G= (p.Gly472=)
c.111G=
c.1454G= (p.Gly485=)
c.1436G= (p.Gly479=)
22g.50697674G>TCA515255160SHANK3c.1058G>T (p.Gly353Val)
n.1642G>T
c.110G>T (p.Gly37Val)
c.1415G>T (p.Gly472Val)
c.111G>T
c.1454G>T (p.Gly485Val)
c.1436G>T (p.Gly479Val)
 gnomAD v4
22g.50697675_50697676delCA2657599007SHANK3c.1059_1060del (p.Glu354ArgfsTer?)
n.1643_1644del
c.111_112del (p.Glu38ArgfsTer?)
c.1416_1417del (p.Glu473ArgfsTer?)
c.112_113del
c.1455_1456del (p.Glu486ArgfsTer?)
c.1437_1438del (p.Glu480ArgfsTer?)
 gnomAD v4
22g.50697675delCA2819325452SHANK3c.1059del (p.Glu354LysfsTer12)
n.1643del
c.111del (p.Glu38LysfsTer12)
c.1416del (p.Glu473LysfsTer12)
c.112del
c.1455del (p.Glu486LysfsTer12)
c.1437del (p.Glu480LysfsTer12)
22g.50697675T>ACA515255161SHANK3c.1059T>A (p.Gly353=)
n.1643T>A
c.111T>A (p.Gly37=)
c.1416T>A (p.Gly472=)
c.112T>A
c.1455T>A (p.Gly485=)
c.1437T>A (p.Gly479=)
 gnomAD v4
22g.50697675T>CCA515255162SHANK3c.1059T>C (p.Gly353=)
n.1643T>C
c.111T>C (p.Gly37=)
c.1416T>C (p.Gly472=)
c.112T>C
c.1455T>C (p.Gly485=)
c.1437T>C (p.Gly479=)
 gnomAD v4
22g.50697675T>GCA515255163SHANK3c.1059T>G (p.Gly353=)
n.1643T>G
c.111T>G (p.Gly37=)
c.1416T>G (p.Gly472=)
c.112T>G
c.1455T>G (p.Gly485=)
c.1437T>G (p.Gly479=)

Number of alleles fetched