Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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=)
22g.50697676G>ACA515255164SHANK3c.1060G>A (p.Glu354Lys)
n.1644G>A
c.112G>A (p.Glu38Lys)
c.1417G>A (p.Glu473Lys)
c.113G>A
c.1456G>A (p.Glu486Lys)
c.1438G>A (p.Glu480Lys)
 gnomAD v4
22g.50697676G>CCA515255165SHANK3c.1060G>C (p.Glu354Gln)
n.1644G>C
c.112G>C (p.Glu38Gln)
c.1417G>C (p.Glu473Gln)
c.113G>C
c.1456G>C (p.Glu486Gln)
c.1438G>C (p.Glu480Gln)
 gnomAD v4
22g.50697676G>TCA515255166SHANK3c.1060G>T (p.Glu354Ter)
n.1644G>T
c.112G>T (p.Glu38Ter)
c.1417G>T (p.Glu473Ter)
c.113G>T
c.1456G>T (p.Glu486Ter)
c.1438G>T (p.Glu480Ter)
 gnomAD v4
22g.50697677A=CA2410995405SHANK3c.1061A= (p.Glu354=)
n.1645A=
c.113A= (p.Glu38=)
c.1418A= (p.Glu473=)
c.114A=
c.1457A= (p.Glu486=)
c.1439A= (p.Glu480=)
22g.50697677A>CCA515255167SHANK3c.1061A>C (p.Glu354Ala)
n.1645A>C
c.113A>C (p.Glu38Ala)
c.1418A>C (p.Glu473Ala)
c.114A>C
c.1457A>C (p.Glu486Ala)
c.1439A>C (p.Glu480Ala)
22g.50697677A>GCA515255169SHANK3c.1061A>G (p.Glu354Gly)
n.1645A>G
c.113A>G (p.Glu38Gly)
c.1418A>G (p.Glu473Gly)
c.114A>G
c.1457A>G (p.Glu486Gly)
c.1439A>G (p.Glu480Gly)
 dbSNP gnomAD v4
22g.50697677A>TCA515255168SHANK3c.1061A>T (p.Glu354Val)
n.1645A>T
c.113A>T (p.Glu38Val)
c.1418A>T (p.Glu473Val)
c.114A>T
c.1457A>T (p.Glu486Val)
c.1439A>T (p.Glu480Val)
 gnomAD v4
22g.50697678delCA2657599017SHANK3c.1062del (p.Gly355AlafsTer11)
n.1646del
c.114del (p.Gly39AlafsTer11)
c.1419del (p.Gly474AlafsTer11)
c.115del
c.1458del (p.Gly487AlafsTer11)
c.1440del (p.Gly481AlafsTer11)
 gnomAD v4
22g.50697678A>CCA515255170SHANK3c.1062A>C (p.Glu354Asp)
n.1646A>C
c.114A>C (p.Glu38Asp)
c.1419A>C (p.Glu473Asp)
c.115A>C
c.1458A>C (p.Glu486Asp)
c.1440A>C (p.Glu480Asp)
 gnomAD v4
22g.50697678A>GCA515255171SHANK3c.1062A>G (p.Glu354=)
n.1646A>G
c.114A>G (p.Glu38=)
c.1419A>G (p.Glu473=)
c.115A>G
c.1458A>G (p.Glu486=)
c.1440A>G (p.Glu480=)
 gnomAD v4
22g.50697678A>TCA515255172SHANK3c.1062A>T (p.Glu354Asp)
n.1646A>T
c.114A>T (p.Glu38Asp)
c.1419A>T (p.Glu473Asp)
c.115A>T
c.1458A>T (p.Glu486Asp)
c.1440A>T (p.Glu480Asp)
 gnomAD v4
22g.50697679G>ACA515255173SHANK3c.1063G>A (p.Gly355Ser)
n.1647G>A
c.115G>A (p.Gly39Ser)
c.1420G>A (p.Gly474Ser)
c.116G>A
c.1459G>A (p.Gly487Ser)
c.1441G>A (p.Gly481Ser)
 gnomAD v4
22g.50697679G>CCA515255174SHANK3c.1063G>C (p.Gly355Arg)
n.1647G>C
c.115G>C (p.Gly39Arg)
c.1420G>C (p.Gly474Arg)
c.116G>C
c.1459G>C (p.Gly487Arg)
c.1441G>C (p.Gly481Arg)
22g.50697679G=CA2410995406SHANK3c.1063G= (p.Gly355=)
n.1647G=
c.115G= (p.Gly39=)
c.1420G= (p.Gly474=)
c.116G=
c.1459G= (p.Gly487=)
c.1441G= (p.Gly481=)
22g.50697679G>TCA515255175SHANK3c.1063G>T (p.Gly355Cys)
n.1647G>T
c.115G>T (p.Gly39Cys)
c.1420G>T (p.Gly474Cys)
c.116G>T
c.1459G>T (p.Gly487Cys)
c.1441G>T (p.Gly481Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697680G>ACA515255176SHANK3c.1064G>A (p.Gly355Asp)
n.1648G>A
c.116G>A (p.Gly39Asp)
c.1421G>A (p.Gly474Asp)
c.117G>A
c.1460G>A (p.Gly487Asp)
c.1442G>A (p.Gly481Asp)
 gnomAD v4
22g.50697680G>CCA515255177SHANK3c.1064G>C (p.Gly355Ala)
n.1648G>C
c.116G>C (p.Gly39Ala)
c.1421G>C (p.Gly474Ala)
c.117G>C
c.1460G>C (p.Gly487Ala)
c.1442G>C (p.Gly481Ala)
 gnomAD v4
22g.50697680G>TCA515255178SHANK3c.1064G>T (p.Gly355Val)
n.1648G>T
c.116G>T (p.Gly39Val)
c.1421G>T (p.Gly474Val)
c.117G>T
c.1460G>T (p.Gly487Val)
c.1442G>T (p.Gly481Val)
 gnomAD v4
22g.50697681C>ACA515255179SHANK3c.1065C>A (p.Gly355=)
n.1649C>A
c.117C>A (p.Gly39=)
c.1422C>A (p.Gly474=)
c.118C>A
c.1461C>A (p.Gly487=)
c.1443C>A (p.Gly481=)
 gnomAD v4
22g.50697681C>GCA515255180SHANK3c.1065C>G (p.Gly355=)
n.1649C>G
c.117C>G (p.Gly39=)
c.1422C>G (p.Gly474=)
c.118C>G
c.1461C>G (p.Gly487=)
c.1443C>G (p.Gly481=)
 gnomAD v4
22g.50697681C>TCA515255181SHANK3c.1065C>T (p.Gly355=)
n.1649C>T
c.117C>T (p.Gly39=)
c.1422C>T (p.Gly474=)
c.118C>T
c.1461C>T (p.Gly487=)
c.1443C>T (p.Gly481=)
 gnomAD v4
22g.50697682G>ACA515255184SHANK3c.1066G>A (p.Glu356Lys)
n.1650G>A
c.118G>A (p.Glu40Lys)
c.1423G>A (p.Glu475Lys)
c.119G>A
c.1462G>A (p.Glu488Lys)
c.1444G>A (p.Glu482Lys)
 gnomAD v4
22g.50697682G>CCA515255183SHANK3c.1066G>C (p.Glu356Gln)
n.1650G>C
c.118G>C (p.Glu40Gln)
c.1423G>C (p.Glu475Gln)
c.119G>C
c.1462G>C (p.Glu488Gln)
c.1444G>C (p.Glu482Gln)
 dbSNP gnomAD v2 gnomAD v4
22g.50697682G=CA2410995407SHANK3c.1066G= (p.Glu356=)
n.1650G=
c.118G= (p.Glu40=)
c.1423G= (p.Glu475=)
c.119G=
c.1462G= (p.Glu488=)
c.1444G= (p.Glu482=)
22g.50697682G>TCA515255182SHANK3c.1066G>T (p.Glu356Ter)
n.1650G>T
c.118G>T (p.Glu40Ter)
c.1423G>T (p.Glu475Ter)
c.119G>T
c.1462G>T (p.Glu488Ter)
c.1444G>T (p.Glu482Ter)
 gnomAD v4
22g.50697683A>CCA515255185SHANK3c.1067A>C (p.Glu356Ala)
n.1651A>C
c.119A>C (p.Glu40Ala)
c.1424A>C (p.Glu475Ala)
c.120A>C
c.1463A>C (p.Glu488Ala)
c.1445A>C (p.Glu482Ala)
22g.50697683A>GCA515255186SHANK3c.1067A>G (p.Glu356Gly)
n.1651A>G
c.119A>G (p.Glu40Gly)
c.1424A>G (p.Glu475Gly)
c.120A>G
c.1463A>G (p.Glu488Gly)
c.1445A>G (p.Glu482Gly)
 gnomAD v4
22g.50697683A>TCA515255187SHANK3c.1067A>T (p.Glu356Val)
n.1651A>T
c.119A>T (p.Glu40Val)
c.1424A>T (p.Glu475Val)
c.120A>T
c.1463A>T (p.Glu488Val)
c.1445A>T (p.Glu482Val)
 gnomAD v4
22g.50697684G>ACA515255188SHANK3c.1068G>A (p.Glu356=)
n.1652G>A
c.120G>A (p.Glu40=)
c.1425G>A (p.Glu475=)
c.121G>A
c.1464G>A (p.Glu488=)
c.1446G>A (p.Glu482=)
 gnomAD v4
22g.50697684G>CCA515255189SHANK3c.1068G>C (p.Glu356Asp)
n.1652G>C
c.120G>C (p.Glu40Asp)
c.1425G>C (p.Glu475Asp)
c.121G>C
c.1464G>C (p.Glu488Asp)
c.1446G>C (p.Glu482Asp)
 gnomAD v4
22g.50697684G>TCA515255190SHANK3c.1068G>T (p.Glu356Asp)
n.1652G>T
c.120G>T (p.Glu40Asp)
c.1425G>T (p.Glu475Asp)
c.121G>T
c.1464G>T (p.Glu488Asp)
c.1446G>T (p.Glu482Asp)
 gnomAD v4
22g.50697685A>CCA515255191SHANK3c.1069A>C (p.Ile357Leu)
n.1653A>C
c.121A>C (p.Ile41Leu)
c.1426A>C (p.Ile476Leu)
c.122A>C
c.1465A>C (p.Ile489Leu)
c.1447A>C (p.Ile483Leu)
 gnomAD v4
22g.50697685A>GCA515255192SHANK3c.1069A>G (p.Ile357Val)
n.1653A>G
c.121A>G (p.Ile41Val)
c.1426A>G (p.Ile476Val)
c.122A>G
c.1465A>G (p.Ile489Val)
c.1447A>G (p.Ile483Val)
 gnomAD v4
22g.50697685A>TCA515255193SHANK3c.1069A>T (p.Ile357Phe)
n.1653A>T
c.121A>T (p.Ile41Phe)
c.1426A>T (p.Ile476Phe)
c.122A>T
c.1465A>T (p.Ile489Phe)
c.1447A>T (p.Ile483Phe)
22g.50697686T>ACA515255194SHANK3c.1070T>A (p.Ile357Asn)
n.1654T>A
c.122T>A (p.Ile41Asn)
c.1427T>A (p.Ile476Asn)
c.123T>A
c.1466T>A (p.Ile489Asn)
c.1448T>A (p.Ile483Asn)
 gnomAD v4
22g.50697686T>CCA515255195SHANK3c.1070T>C (p.Ile357Thr)
n.1654T>C
c.122T>C (p.Ile41Thr)
c.1427T>C (p.Ile476Thr)
c.123T>C
c.1466T>C (p.Ile489Thr)
c.1448T>C (p.Ile483Thr)
 gnomAD v4
22g.50697686T>GCA515255196SHANK3c.1070T>G (p.Ile357Ser)
n.1654T>G
c.122T>G (p.Ile41Ser)
c.1427T>G (p.Ile476Ser)
c.123T>G
c.1466T>G (p.Ile489Ser)
c.1448T>G (p.Ile483Ser)
22g.50697687C>ACA515255197SHANK3c.1071C>A (p.Ile357=)
n.1655C>A
c.123C>A (p.Ile41=)
c.1428C>A (p.Ile476=)
c.124C>A
c.1467C>A (p.Ile489=)
c.1449C>A (p.Ile483=)
 gnomAD v4
22g.50697687C=CA2410995408SHANK3c.1071C= (p.Ile357=)
n.1655C=
c.123C= (p.Ile41=)
c.1428C= (p.Ile476=)
c.124C=
c.1467C= (p.Ile489=)
c.1449C= (p.Ile483=)
22g.50697687C>GCA515255199SHANK3c.1071C>G (p.Ile357Met)
n.1655C>G
c.123C>G (p.Ile41Met)
c.1428C>G (p.Ile476Met)
c.124C>G
c.1467C>G (p.Ile489Met)
c.1449C>G (p.Ile483Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697687C>TCA515255198SHANK3c.1071C>T (p.Ile357=)
n.1655C>T
c.123C>T (p.Ile41=)
c.1428C>T (p.Ile476=)
c.124C>T
c.1467C>T (p.Ile489=)
c.1449C>T (p.Ile483=)
 gnomAD v4
22g.50697689delCA2657599040SHANK3c.1073del (p.Pro358ArgfsTer8)
n.1657del
c.125del (p.Pro42ArgfsTer8)
c.1430del (p.Pro477ArgfsTer8)
c.126del
c.1469del (p.Pro490ArgfsTer8)
c.1451del (p.Pro484ArgfsTer8)
 gnomAD v4
22g.50697688C>ACA515255200SHANK3c.1072C>A (p.Pro358Thr)
n.1656C>A
c.124C>A (p.Pro42Thr)
c.1429C>A (p.Pro477Thr)
c.125C>A
c.1468C>A (p.Pro490Thr)
c.1450C>A (p.Pro484Thr)
 gnomAD v4
22g.50697688C>GCA515255202SHANK3c.1072C>G (p.Pro358Ala)
n.1656C>G
c.124C>G (p.Pro42Ala)
c.1429C>G (p.Pro477Ala)
c.125C>G
c.1468C>G (p.Pro490Ala)
c.1450C>G (p.Pro484Ala)
 gnomAD v4
22g.50697688C>TCA515255201SHANK3c.1072C>T (p.Pro358Ser)
n.1656C>T
c.124C>T (p.Pro42Ser)
c.1429C>T (p.Pro477Ser)
c.125C>T
c.1468C>T (p.Pro490Ser)
c.1450C>T (p.Pro484Ser)
 gnomAD v4
22g.50697689C>ACA515255203SHANK3c.1073C>A (p.Pro358Gln)
n.1657C>A
c.125C>A (p.Pro42Gln)
c.1430C>A (p.Pro477Gln)
c.126C>A
c.1469C>A (p.Pro490Gln)
c.1451C>A (p.Pro484Gln)
 gnomAD v4
22g.50697689C=CA2410995409SHANK3c.1073C= (p.Pro358=)
n.1657C=
c.125C= (p.Pro42=)
c.1430C= (p.Pro477=)
c.126C=
c.1469C= (p.Pro490=)
c.1451C= (p.Pro484=)
22g.50697689C>GCA515255204SHANK3c.1073C>G (p.Pro358Arg)
n.1657C>G
c.125C>G (p.Pro42Arg)
c.1430C>G (p.Pro477Arg)
c.126C>G
c.1469C>G (p.Pro490Arg)
c.1451C>G (p.Pro484Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50697689C>TCA515255205SHANK3c.1073C>T (p.Pro358Leu)
n.1657C>T
c.125C>T (p.Pro42Leu)
c.1430C>T (p.Pro477Leu)
c.126C>T
c.1469C>T (p.Pro490Leu)
c.1451C>T (p.Pro484Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.50697690delCA2657599055SHANK3c.1074del (p.Leu359CysfsTer7)
n.1658del
c.126del (p.Leu43CysfsTer7)
c.1431del (p.Leu478CysfsTer7)
c.127del
c.1470del (p.Leu491CysfsTer7)
c.1452del (p.Leu485CysfsTer7)
 gnomAD v4
22g.50697690G>ACA515255206SHANK3c.1074G>A (p.Pro358=)
n.1658G>A
c.126G>A (p.Pro42=)
c.1431G>A (p.Pro477=)
c.127G>A
c.1470G>A (p.Pro490=)
c.1452G>A (p.Pro484=)
 gnomAD v4
22g.50697690G>CCA515255207SHANK3c.1074G>C (p.Pro358=)
n.1658G>C
c.126G>C (p.Pro42=)
c.1431G>C (p.Pro477=)
c.127G>C
c.1470G>C (p.Pro490=)
c.1452G>C (p.Pro484=)
 gnomAD v4
22g.50697690G>TCA515255208SHANK3c.1074G>T (p.Pro358=)
n.1658G>T
c.126G>T (p.Pro42=)
c.1431G>T (p.Pro477=)
c.127G>T
c.1470G>T (p.Pro490=)
c.1452G>T (p.Pro484=)
 gnomAD v3 gnomAD v4
22g.50697691C>ACA515255209SHANK3c.1075C>A (p.Leu359Met)
n.1659C>A
c.127C>A (p.Leu43Met)
c.1432C>A (p.Leu478Met)
c.128C>A
c.1471C>A (p.Leu491Met)
c.1453C>A (p.Leu485Met)
 gnomAD v4
22g.50697691C=CA2410995410SHANK3c.1075C= (p.Leu359=)
n.1659C=
c.127C= (p.Leu43=)
c.1432C= (p.Leu478=)
c.128C=
c.1471C= (p.Leu491=)
c.1453C= (p.Leu485=)
22g.50697691C>GCA515255210SHANK3c.1075C>G (p.Leu359Val)
n.1659C>G
c.127C>G (p.Leu43Val)
c.1432C>G (p.Leu478Val)
c.128C>G
c.1471C>G (p.Leu491Val)
c.1453C>G (p.Leu485Val)
 dbSNP gnomAD v2 gnomAD v4
22g.50697691C>TCA515255211SHANK3c.1075C>T (p.Leu359=)
n.1659C>T
c.127C>T (p.Leu43=)
c.1432C>T (p.Leu478=)
c.128C>T
c.1471C>T (p.Leu491=)
c.1453C>T (p.Leu485=)
 gnomAD v4
22g.50697692T>ACA515255212SHANK3c.1076T>A (p.Leu359Gln)
n.1660T>A
c.128T>A (p.Leu43Gln)
c.1433T>A (p.Leu478Gln)
c.129T>A
c.1472T>A (p.Leu491Gln)
c.1454T>A (p.Leu485Gln)
 gnomAD v4
22g.50697692T>CCA515255213SHANK3c.1076T>C (p.Leu359Pro)
n.1660T>C
c.128T>C (p.Leu43Pro)
c.1433T>C (p.Leu478Pro)
c.129T>C
c.1472T>C (p.Leu491Pro)
c.1454T>C (p.Leu485Pro)
 gnomAD v4
22g.50697692T>GCA515255214SHANK3c.1076T>G (p.Leu359Arg)
n.1660T>G
c.128T>G (p.Leu43Arg)
c.1433T>G (p.Leu478Arg)
c.129T>G
c.1472T>G (p.Leu491Arg)
c.1454T>G (p.Leu485Arg)
22g.50697693G>ACA515255215SHANK3c.1077G>A (p.Leu359=)
n.1661G>A
c.129G>A (p.Leu43=)
c.1434G>A (p.Leu478=)
c.130G>A
c.1473G>A (p.Leu491=)
c.1455G>A (p.Leu485=)
 dbSNP gnomAD v2 gnomAD v4
22g.50697693G>CCA515255217SHANK3c.1077G>C (p.Leu359=)
n.1661G>C
c.129G>C (p.Leu43=)
c.1434G>C (p.Leu478=)
c.130G>C
c.1473G>C (p.Leu491=)
c.1455G>C (p.Leu485=)
 gnomAD v4
22g.50697693G=CA2410995411SHANK3c.1077G= (p.Leu359=)
n.1661G=
c.129G= (p.Leu43=)
c.1434G= (p.Leu478=)
c.130G=
c.1473G= (p.Leu491=)
c.1455G= (p.Leu485=)
22g.50697693G>TCA515255216SHANK3c.1077G>T (p.Leu359=)
n.1661G>T
c.129G>T (p.Leu43=)
c.1434G>T (p.Leu478=)
c.130G>T
c.1473G>T (p.Leu491=)
c.1455G>T (p.Leu485=)
 gnomAD v4
22g.50697694C>ACA515255218SHANK3c.1078C>A (p.His360Asn)
n.1662C>A
c.130C>A (p.His44Asn)
c.1435C>A (p.His479Asn)
c.131C>A
c.1474C>A (p.His492Asn)
c.1456C>A (p.His486Asn)
 gnomAD v4
22g.50697694C>GCA515255219SHANK3c.1078C>G (p.His360Asp)
n.1662C>G
c.130C>G (p.His44Asp)
c.1435C>G (p.His479Asp)
c.131C>G
c.1474C>G (p.His492Asp)
c.1456C>G (p.His486Asp)
 gnomAD v4
22g.50697694C>TCA515255220SHANK3c.1078C>T (p.His360Tyr)
n.1662C>T
c.130C>T (p.His44Tyr)
c.1435C>T (p.His479Tyr)
c.131C>T
c.1474C>T (p.His492Tyr)
c.1456C>T (p.His486Tyr)
 gnomAD v4
22g.50697695A>CCA515255221SHANK3c.1079A>C (p.His360Pro)
n.1663A>C
c.131A>C (p.His44Pro)
c.1436A>C (p.His479Pro)
c.132A>C
c.1475A>C (p.His492Pro)
c.1457A>C (p.His486Pro)
22g.50697695A>GCA515255222SHANK3c.1079A>G (p.His360Arg)
n.1663A>G
c.131A>G (p.His44Arg)
c.1436A>G (p.His479Arg)
c.132A>G
c.1475A>G (p.His492Arg)
c.1457A>G (p.His486Arg)
 gnomAD v4
22g.50697695A>TCA515255223SHANK3c.1079A>T (p.His360Leu)
n.1663A>T
c.131A>T (p.His44Leu)
c.1436A>T (p.His479Leu)
c.132A>T
c.1475A>T (p.His492Leu)
c.1457A>T (p.His486Leu)
22g.50697696C>ACA515255224SHANK3c.1080C>A (p.His360Gln)
n.1664C>A
c.132C>A (p.His44Gln)
c.1437C>A (p.His479Gln)
c.133C>A
c.1476C>A (p.His492Gln)
c.1458C>A (p.His486Gln)
 gnomAD v4
22g.50697696C=CA2410995412SHANK3c.1080C= (p.His360=)
n.1664C=
c.132C= (p.His44=)
c.1437C= (p.His479=)
c.133C=
c.1476C= (p.His492=)
c.1458C= (p.His486=)
22g.50697696C>GCA515255225SHANK3c.1080C>G (p.His360Gln)
n.1664C>G
c.132C>G (p.His44Gln)
c.1437C>G (p.His479Gln)
c.133C>G
c.1476C>G (p.His492Gln)
c.1458C>G (p.His486Gln)
 gnomAD v4
22g.50697696C>TCA325553962SHANK3c.1080C>T (p.His360=)
n.1664C>T
c.132C>T (p.His44=)
c.1437C>T (p.His479=)
c.133C>T
c.1476C>T (p.His492=)
c.1458C>T (p.His486=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697697C>ACA515255228SHANK3c.1081C>A (p.Arg361Ser)
n.1665C>A
c.133C>A (p.Arg45Ser)
c.1438C>A (p.Arg480Ser)
c.134C>A
c.1477C>A (p.Arg493Ser)
c.1459C>A (p.Arg487Ser)
 gnomAD v4
22g.50697697C>GCA515255227SHANK3c.1081C>G (p.Arg361Gly)
n.1665C>G
c.133C>G (p.Arg45Gly)
c.1438C>G (p.Arg480Gly)
c.134C>G
c.1477C>G (p.Arg493Gly)
c.1459C>G (p.Arg487Gly)
 gnomAD v4
22g.50697697C>TCA515255226SHANK3c.1081C>T (p.Arg361Cys)
n.1665C>T
c.133C>T (p.Arg45Cys)
c.1438C>T (p.Arg480Cys)
c.134C>T
c.1477C>T (p.Arg493Cys)
c.1459C>T (p.Arg487Cys)
 gnomAD v4
22g.50697698delCA2819325453SHANK3c.1082del (p.Arg361ProfsTer5)
n.1666del
c.134del (p.Arg45ProfsTer5)
c.1439del (p.Arg480ProfsTer5)
c.135del
c.1478del (p.Arg493ProfsTer5)
c.1460del (p.Arg487ProfsTer5)
22g.50697698G>ACA515255229SHANK3c.1082G>A (p.Arg361His)
n.1666G>A
c.134G>A (p.Arg45His)
c.1439G>A (p.Arg480His)
c.135G>A
c.1478G>A (p.Arg493His)
c.1460G>A (p.Arg487His)
 gnomAD v4
22g.50697698G>CCA515255230SHANK3c.1082G>C (p.Arg361Pro)
n.1666G>C
c.134G>C (p.Arg45Pro)
c.1439G>C (p.Arg480Pro)
c.135G>C
c.1478G>C (p.Arg493Pro)
c.1460G>C (p.Arg487Pro)
22g.50697698G=CA2410995413SHANK3c.1082G= (p.Arg361=)
n.1666G=
c.134G= (p.Arg45=)
c.1439G= (p.Arg480=)
c.135G=
c.1478G= (p.Arg493=)
c.1460G= (p.Arg487=)
22g.50697698G>TCA515255231SHANK3c.1082G>T (p.Arg361Leu)
n.1666G>T
c.134G>T (p.Arg45Leu)
c.1439G>T (p.Arg480Leu)
c.135G>T
c.1478G>T (p.Arg493Leu)
c.1460G>T (p.Arg487Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697699C>ACA515255232SHANK3c.1083C>A (p.Arg361=)
n.1667C>A
c.135C>A (p.Arg45=)
c.1440C>A (p.Arg480=)
c.136C>A
c.1479C>A (p.Arg493=)
c.1461C>A (p.Arg487=)
 gnomAD v4
22g.50697699C=CA2410995414SHANK3c.1083C= (p.Arg361=)
n.1667C=
c.135C= (p.Arg45=)
c.1440C= (p.Arg480=)
c.136C=
c.1479C= (p.Arg493=)
c.1461C= (p.Arg487=)
22g.50697699C>GCA515255233SHANK3c.1083C>G (p.Arg361=)
n.1667C>G
c.135C>G (p.Arg45=)
c.1440C>G (p.Arg480=)
c.136C>G
c.1479C>G (p.Arg493=)
c.1461C>G (p.Arg487=)
22g.50697699C>TCA515255234SHANK3c.1083C>T (p.Arg361=)
n.1667C>T
c.135C>T (p.Arg45=)
c.1440C>T (p.Arg480=)
c.136C>T
c.1479C>T (p.Arg493=)
c.1461C>T (p.Arg487=)
 dbSNP gnomAD v3 gnomAD v4
22g.50697700G>ACA515255235SHANK3c.1084G>A (p.Gly362Ser)
n.1668G>A
c.136G>A (p.Gly46Ser)
c.1441G>A (p.Gly481Ser)
c.137G>A
c.1480G>A (p.Gly494Ser)
c.1462G>A (p.Gly488Ser)
 gnomAD v4
22g.50697700G>CCA515255236SHANK3c.1084G>C (p.Gly362Arg)
n.1668G>C
c.136G>C (p.Gly46Arg)
c.1441G>C (p.Gly481Arg)
c.137G>C
c.1480G>C (p.Gly494Arg)
c.1462G>C (p.Gly488Arg)
 gnomAD v4
22g.50697700G=CA2410995415SHANK3c.1084G= (p.Gly362=)
n.1668G=
c.136G= (p.Gly46=)
c.1441G= (p.Gly481=)
c.137G=
c.1480G= (p.Gly494=)
c.1462G= (p.Gly488=)
22g.50697700G>TCA515255237SHANK3c.1084G>T (p.Gly362Cys)
n.1668G>T
c.136G>T (p.Gly46Cys)
c.1441G>T (p.Gly481Cys)
c.137G>T
c.1480G>T (p.Gly494Cys)
c.1462G>T (p.Gly488Cys)
 dbSNP gnomAD v4
22g.50697701G>ACA515255238SHANK3c.1085G>A (p.Gly362Asp)
n.1669G>A
c.137G>A (p.Gly46Asp)
c.1442G>A (p.Gly481Asp)
c.138G>A
c.1481G>A (p.Gly494Asp)
c.1463G>A (p.Gly488Asp)
 gnomAD v4
22g.50697701G>CCA515255239SHANK3c.1085G>C (p.Gly362Ala)
n.1669G>C
c.137G>C (p.Gly46Ala)
c.1442G>C (p.Gly481Ala)
c.138G>C
c.1481G>C (p.Gly494Ala)
c.1463G>C (p.Gly488Ala)
22g.50697701G>TCA515255240SHANK3c.1085G>T (p.Gly362Val)
n.1669G>T
c.137G>T (p.Gly46Val)
c.1442G>T (p.Gly481Val)
c.138G>T
c.1481G>T (p.Gly494Val)
c.1463G>T (p.Gly488Val)
 gnomAD v4
22g.50697702delCA2657599089SHANK3c.1086del (p.Glu363ArgfsTer3)
n.1670del
c.138del (p.Glu47ArgfsTer3)
c.1443del (p.Glu482ArgfsTer3)
c.139del
c.1482del (p.Glu495ArgfsTer3)
c.1464del (p.Glu489ArgfsTer3)
 gnomAD v4
22g.50697702C>ACA515255243SHANK3c.1086C>A (p.Gly362=)
n.1670C>A
c.138C>A (p.Gly46=)
c.1443C>A (p.Gly481=)
c.139C>A
c.1482C>A (p.Gly494=)
c.1464C>A (p.Gly488=)
 gnomAD v4
22g.50697702C=CA2410995416SHANK3c.1086C= (p.Gly362=)
n.1670C=
c.138C= (p.Gly46=)
c.1443C= (p.Gly481=)
c.139C=
c.1482C= (p.Gly494=)
c.1464C= (p.Gly488=)
22g.50697702C>GCA515255241SHANK3c.1086C>G (p.Gly362=)
n.1670C>G
c.138C>G (p.Gly46=)
c.1443C>G (p.Gly481=)
c.139C>G
c.1482C>G (p.Gly494=)
c.1464C>G (p.Gly488=)
 dbSNP gnomAD v3 gnomAD v4
22g.50697702C>TCA515255242SHANK3c.1086C>T (p.Gly362=)
n.1670C>T
c.138C>T (p.Gly46=)
c.1443C>T (p.Gly481=)
c.139C>T
c.1482C>T (p.Gly494=)
c.1464C>T (p.Gly488=)
 dbSNP gnomAD v4
22g.50697703G>ACA515255244SHANK3c.1087G>A (p.Glu363Lys)
n.1671G>A
c.139G>A (p.Glu47Lys)
c.1444G>A (p.Glu482Lys)
c.140G>A
c.1483G>A (p.Glu495Lys)
c.1465G>A (p.Glu489Lys)
 gnomAD v4
22g.50697703G>CCA515255245SHANK3c.1087G>C (p.Glu363Gln)
n.1671G>C
c.139G>C (p.Glu47Gln)
c.1444G>C (p.Glu482Gln)
c.140G>C
c.1483G>C (p.Glu495Gln)
c.1465G>C (p.Glu489Gln)
22g.50697703G>TCA515255246SHANK3c.1087G>T (p.Glu363Ter)
n.1671G>T
c.139G>T (p.Glu47Ter)
c.1444G>T (p.Glu482Ter)
c.140G>T
c.1483G>T (p.Glu495Ter)
c.1465G>T (p.Glu489Ter)
 gnomAD v4
22g.50697704A>CCA515255247SHANK3c.1088A>C (p.Glu363Ala)
n.1672A>C
c.140A>C (p.Glu47Ala)
c.1445A>C (p.Glu482Ala)
c.141A>C
c.1484A>C (p.Glu495Ala)
c.1466A>C (p.Glu489Ala)
22g.50697704A>GCA515255248SHANK3c.1088A>G (p.Glu363Gly)
n.1672A>G
c.140A>G (p.Glu47Gly)
c.1445A>G (p.Glu482Gly)
c.141A>G
c.1484A>G (p.Glu495Gly)
c.1466A>G (p.Glu489Gly)
 gnomAD v4
22g.50697704A>TCA515255249SHANK3c.1088A>T (p.Glu363Val)
n.1672A>T
c.140A>T (p.Glu47Val)
c.1445A>T (p.Glu482Val)
c.141A>T
c.1484A>T (p.Glu495Val)
c.1466A>T (p.Glu489Val)
 gnomAD v4
22g.50697705G>ACA515255250SHANK3c.1089G>A (p.Glu363=)
n.1673G>A
c.141G>A (p.Glu47=)
c.1446G>A (p.Glu482=)
c.142G>A
c.1485G>A (p.Glu495=)
c.1467G>A (p.Glu489=)
 gnomAD v4
22g.50697705G>CCA515255251SHANK3c.1089G>C (p.Glu363Asp)
n.1673G>C
c.141G>C (p.Glu47Asp)
c.1446G>C (p.Glu482Asp)
c.142G>C
c.1485G>C (p.Glu495Asp)
c.1467G>C (p.Glu489Asp)
 gnomAD v4
22g.50697705G>TCA515255252SHANK3c.1089G>T (p.Glu363Asp)
n.1673G>T
c.141G>T (p.Glu47Asp)
c.1446G>T (p.Glu482Asp)
c.142G>T
c.1485G>T (p.Glu495Asp)
c.1467G>T (p.Glu489Asp)
 gnomAD v4
22g.50697706G>ACA515255253SHANK3c.1090G>A (p.Ala364Thr)
n.1674G>A
c.142G>A (p.Ala48Thr)
c.1447G>A (p.Ala483Thr)
c.143G>A
c.1486G>A (p.Ala496Thr)
c.1468G>A (p.Ala490Thr)
 dbSNP gnomAD v4
22g.50697706G>CCA515255254SHANK3c.1090G>C (p.Ala364Pro)
n.1674G>C
c.142G>C (p.Ala48Pro)
c.1447G>C (p.Ala483Pro)
c.143G>C
c.1486G>C (p.Ala496Pro)
c.1468G>C (p.Ala490Pro)
 dbSNP gnomAD v3 gnomAD v4
22g.50697706G=CA2410995417SHANK3c.1090G= (p.Ala364=)
n.1674G=
c.142G= (p.Ala48=)
c.1447G= (p.Ala483=)
c.143G=
c.1486G= (p.Ala496=)
c.1468G= (p.Ala490=)
22g.50697706G>TCA515255255SHANK3c.1090G>T (p.Ala364Ser)
n.1674G>T
c.142G>T (p.Ala48Ser)
c.1447G>T (p.Ala483Ser)
c.143G>T
c.1486G>T (p.Ala496Ser)
c.1468G>T (p.Ala490Ser)
 gnomAD v4
22g.50697707C>ACA515255257SHANK3c.1091C>A (p.Ala364Asp)
n.1675C>A
c.143C>A (p.Ala48Asp)
c.1448C>A (p.Ala483Asp)
c.144C>A
c.1487C>A (p.Ala496Asp)
c.1469C>A (p.Ala490Asp)
 gnomAD v4
22g.50697707C>GCA515255258SHANK3c.1091C>G (p.Ala364Gly)
n.1675C>G
c.143C>G (p.Ala48Gly)
c.1448C>G (p.Ala483Gly)
c.144C>G
c.1487C>G (p.Ala496Gly)
c.1469C>G (p.Ala490Gly)
 gnomAD v4
22g.50697707C>TCA515255256SHANK3c.1091C>T (p.Ala364Val)
n.1675C>T
c.143C>T (p.Ala48Val)
c.1448C>T (p.Ala483Val)
c.144C>T
c.1487C>T (p.Ala496Val)
c.1469C>T (p.Ala490Val)
 gnomAD v4
22g.50697708C>ACA515255260SHANK3c.1092C>A (p.Ala364=)
n.1676C>A
c.144C>A (p.Ala48=)
c.1449C>A (p.Ala483=)
c.145C>A
c.1488C>A (p.Ala496=)
c.1470C>A (p.Ala490=)
 gnomAD v4
22g.50697708C=CA2410995418SHANK3c.1092C= (p.Ala364=)
n.1676C=
c.144C= (p.Ala48=)
c.1449C= (p.Ala483=)
c.145C=
c.1488C= (p.Ala496=)
c.1470C= (p.Ala490=)
22g.50697708C>GCA515255259SHANK3c.1092C>G (p.Ala364=)
n.1676C>G
c.144C>G (p.Ala48=)
c.1449C>G (p.Ala483=)
c.145C>G
c.1488C>G (p.Ala496=)
c.1470C>G (p.Ala490=)
 gnomAD v4
22g.50697708C>TCA515255261SHANK3c.1092C>T (p.Ala364=)
n.1676C>T
c.144C>T (p.Ala48=)
c.1449C>T (p.Ala483=)
c.145C>T
c.1488C>T (p.Ala496=)
c.1470C>T (p.Ala490=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50697709G>ACA515255262SHANK3c.1093G>A (p.Val365Met)
n.1677G>A
c.145G>A (p.Val49Met)
c.1450G>A (p.Val484Met)
c.146G>A
c.1489G>A (p.Val497Met)
c.1471G>A (p.Val491Met)
 dbSNP gnomAD v2 gnomAD v4
22g.50697709G>CCA515255263SHANK3c.1093G>C (p.Val365Leu)
n.1677G>C
c.145G>C (p.Val49Leu)
c.1450G>C (p.Val484Leu)
c.146G>C
c.1489G>C (p.Val497Leu)
c.1471G>C (p.Val491Leu)
22g.50697709G=CA2410995419SHANK3c.1093G= (p.Val365=)
n.1677G=
c.145G= (p.Val49=)
c.1450G= (p.Val484=)
c.146G=
c.1489G= (p.Val497=)
c.1471G= (p.Val491=)
22g.50697709G>TCA515255264SHANK3c.1093G>T (p.Val365Leu)
n.1677G>T
c.145G>T (p.Val49Leu)
c.1450G>T (p.Val484Leu)
c.146G>T
c.1489G>T (p.Val497Leu)
c.1471G>T (p.Val491Leu)
 gnomAD v4
22g.50697710_50697711delCA2577768313SHANK3c.1094_1095del (p.Val365GlufsTer?)
n.1678_1679del
c.146_147del (p.Val49GlufsTer?)
c.1451_1452del (p.Val484GlufsTer?)
c.147_148del
c.1490_1491del (p.Val497GlufsTer?)
c.1472_1473del (p.Val491GlufsTer?)
 gnomAD v4
22g.50697710T>ACA515255265SHANK3c.1094T>A (p.Val365Glu)
n.1678T>A
c.146T>A (p.Val49Glu)
c.1451T>A (p.Val484Glu)
c.147T>A
c.1490T>A (p.Val497Glu)
c.1472T>A (p.Val491Glu)
 gnomAD v4
22g.50697710T>CCA515255266SHANK3c.1094T>C (p.Val365Ala)
n.1678T>C
c.146T>C (p.Val49Ala)
c.1451T>C (p.Val484Ala)
c.147T>C
c.1490T>C (p.Val497Ala)
c.1472T>C (p.Val491Ala)
 gnomAD v4
22g.50697710T>GCA515255267SHANK3c.1094T>G (p.Val365Gly)
n.1678T>G
c.146T>G (p.Val49Gly)
c.1451T>G (p.Val484Gly)
c.147T>G
c.1490T>G (p.Val497Gly)
c.1472T>G (p.Val491Gly)
22g.50697711G>ACA515255268SHANK3c.1095G>A (p.Val365=)
n.1679G>A
c.147G>A (p.Val49=)
c.1452G>A (p.Val484=)
c.148G>A
c.1491G>A (p.Val497=)
c.1473G>A (p.Val491=)
 dbSNP gnomAD v3 gnomAD v4
22g.50697711G>CCA515255269SHANK3c.1095G>C (p.Val365=)
n.1679G>C
c.147G>C (p.Val49=)
c.1452G>C (p.Val484=)
c.148G>C
c.1491G>C (p.Val497=)
c.1473G>C (p.Val491=)
22g.50697711G=CA2410995421SHANK3c.1095G= (p.Val365=)
n.1679G=
c.147G= (p.Val49=)
c.1452G= (p.Val484=)
c.148G=
c.1491G= (p.Val497=)
c.1473G= (p.Val491=)
22g.50697711G>TCA515255270SHANK3c.1095G>T (p.Val365=)
n.1679G>T
c.147G>T (p.Val49=)
c.1452G>T (p.Val484=)
c.148G>T
c.1491G>T (p.Val497=)
c.1473G>T (p.Val491=)
 gnomAD v4
22g.50697711_50697712delinsGACA2410995420SHANK3c.1095_1096delinsGA (p.Val365=)
n.1679_1680delinsGA
c.147_148delinsGA (p.Val49=)
c.1452_1453delinsGA (p.Val484=)
c.148_149delinsGA
c.1491_1492delinsGA (p.Val497=)
c.1473_1474delinsGA (p.Val491=)
22g.50697712A>CCA515255271SHANK3c.1096A>C (p.Lys366Gln)
n.1680A>C
c.148A>C (p.Lys50Gln)
c.1453A>C (p.Lys485Gln)
c.149A>C
c.1492A>C (p.Lys498Gln)
c.1474A>C (p.Lys492Gln)
 gnomAD v4
22g.50697712A>GCA515255272SHANK3c.1096A>G (p.Lys366Glu)
n.1680A>G
c.148A>G (p.Lys50Glu)
c.1453A>G (p.Lys485Glu)
c.149A>G
c.1492A>G (p.Lys498Glu)
c.1474A>G (p.Lys492Glu)
 gnomAD v4
22g.50697712A>TCA515255273SHANK3c.1096A>T (p.Lys366Ter)
n.1680A>T
c.148A>T (p.Lys50Ter)
c.1453A>T (p.Lys485Ter)
c.149A>T
c.1492A>T (p.Lys498Ter)
c.1474A>T (p.Lys492Ter)
 gnomAD v4
22g.50697713delCA16621797SHANK3c.1097del (p.Lys366ArgfsTer15)
n.1681del
c.149del (p.Lys50ArgfsTer15)
c.1454del (p.Lys485ArgfsTer15)
c.150del
c.1493del (p.Lys498ArgfsTer15)
c.1475del (p.Lys492ArgfsTer15)
 ClinVar dbSNP gnomAD v4
22g.50697713A>CCA515255276SHANK3c.1097A>C (p.Lys366Thr)
n.1681A>C
c.149A>C (p.Lys50Thr)
c.1454A>C (p.Lys485Thr)
c.150A>C
c.1493A>C (p.Lys498Thr)
c.1475A>C (p.Lys492Thr)
 gnomAD v4
22g.50697713A>GCA515255275SHANK3c.1097A>G (p.Lys366Arg)
n.1681A>G
c.149A>G (p.Lys50Arg)
c.1454A>G (p.Lys485Arg)
c.150A>G
c.1493A>G (p.Lys498Arg)
c.1475A>G (p.Lys492Arg)
 gnomAD v4
22g.50697713A>TCA515255274SHANK3c.1097A>T (p.Lys366Met)
n.1681A>T
c.149A>T (p.Lys50Met)
c.1454A>T (p.Lys485Met)
c.150A>T
c.1493A>T (p.Lys498Met)
c.1475A>T (p.Lys492Met)
 gnomAD v4
22g.50697714G>ACA515255277SHANK3c.1098G>A (p.Lys366=)
n.1682G>A
c.150G>A (p.Lys50=)
c.1455G>A (p.Lys485=)
c.151G>A
c.1494G>A (p.Lys498=)
c.1476G>A (p.Lys492=)
 dbSNP gnomAD v3 gnomAD v4
22g.50697714G>CCA515255278SHANK3c.1098G>C (p.Lys366Asn)
n.1682G>C
c.150G>C (p.Lys50Asn)
c.1455G>C (p.Lys485Asn)
c.151G>C
c.1494G>C (p.Lys498Asn)
c.1476G>C (p.Lys492Asn)
22g.50697714G=CA2410995422SHANK3c.1098G= (p.Lys366=)
n.1682G=
c.150G= (p.Lys50=)
c.1455G= (p.Lys485=)
c.151G=
c.1494G= (p.Lys498=)
c.1476G= (p.Lys492=)
22g.50697714G>TCA515255279SHANK3c.1098G>T (p.Lys366Asn)
n.1682G>T
c.150G>T (p.Lys50Asn)
c.1455G>T (p.Lys485Asn)
c.151G>T
c.1494G>T (p.Lys498Asn)
c.1476G>T (p.Lys492Asn)
 gnomAD v4
22g.50697715G>ACA515255280SHANK3c.1099G>A (p.Val367Met)
n.1683G>A
c.151G>A (p.Val51Met)
c.1456G>A (p.Val486Met)
c.152G>A
c.1495G>A (p.Val499Met)
c.1477G>A (p.Val493Met)
 gnomAD v4
22g.50697715G>CCA515255281SHANK3c.1099G>C (p.Val367Leu)
n.1683G>C
c.151G>C (p.Val51Leu)
c.1456G>C (p.Val486Leu)
c.152G>C
c.1495G>C (p.Val499Leu)
c.1477G>C (p.Val493Leu)
 gnomAD v4
22g.50697715G>TCA515255282SHANK3c.1099G>T (p.Val367Leu)
n.1683G>T
c.151G>T (p.Val51Leu)
c.1456G>T (p.Val486Leu)
c.152G>T
c.1495G>T (p.Val499Leu)
c.1477G>T (p.Val493Leu)
 gnomAD v4
22g.50697717_50697757delCA2657599140SHANK3c.1099+2_1099+42del
n.1683+2_1683+42del
c.151+2_151+42del
c.1456+2_1456+42del
c.152+2_152+42del
c.1495+2_1495+42del
c.1477+2_1477+42del
 gnomAD v4
22g.50697716G>ACA2657599142SHANK3c.1099+1G>A (n.1099+1G>A)
n.1683+1G>A
c.151+1G>A (n.151+1G>A)
c.1456+1G>A (n.1456+1G>A)
c.152+1G>A
c.1495+1G>A (n.1495+1G>A)
c.1477+1G>A (n.1477+1G>A)
 gnomAD v4
22g.50697716G>CCA2657599145SHANK3c.1099+1G>C (n.1099+1G>C)
n.1683+1G>C
c.151+1G>C (n.151+1G>C)
c.1456+1G>C (n.1456+1G>C)
c.152+1G>C
c.1495+1G>C (n.1495+1G>C)
c.1477+1G>C (n.1477+1G>C)
 gnomAD v4
22g.50697716G>TCA2657599144SHANK3c.1099+1G>T (n.1099+1G>T)
n.1683+1G>T
c.151+1G>T (n.151+1G>T)
c.1456+1G>T (n.1456+1G>T)
c.152+1G>T
c.1495+1G>T (n.1495+1G>T)
c.1477+1G>T (n.1477+1G>T)
 gnomAD v4

Number of alleles fetched