Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50697594_50697695del | CA2819325446 | SHANK3 | c.978_1079del (p.Pro327_His360del) n.1562_1663del c.30_131del (p.Pro11_His44del) c.1335_1436del (p.Pro446_His479del) c.31_132del c.1374_1475del (p.Pro459_His492del) c.1356_1457del (p.Pro453_His486del) | |
22 | g.50697611_50697621dup | CA2580099957 | SHANK3 | c.995_1005dup (p.Ser336GlyfsTer15) n.1579_1589dup c.47_57dup (p.Ser20GlyfsTer15) c.1352_1362dup (p.Ser455GlyfsTer15) c.48_58dup c.1391_1401dup (p.Ser468GlyfsTer15) c.1373_1383dup (p.Ser462GlyfsTer15) | ClinVar |
22 | g.50697612_50697615delinsGAAA | CA2410995377 | SHANK3 | c.996_999delinsGAAA (p.Arg332=) n.1580_1583delinsGAAA c.48_51delinsGAAA (p.Arg16=) c.1353_1356delinsGAAA (p.Arg451=) c.49_52delinsGAAA c.1392_1395delinsGAAA (p.Arg464=) c.1374_1377delinsGAAA (p.Arg458=) | |
22 | g.50697613_50697615del | CA640359025 | SHANK3 | c.997_999del (p.Lys333del) n.1581_1583del c.49_51del (p.Lys17del) c.1354_1356del (p.Lys452del) c.50_52del c.1393_1395del (p.Lys465del) c.1375_1377del (p.Lys459del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697615dup | CA2839095027 | SHANK3 | c.999dup (p.Leu334ThrfsTer21) n.1583dup c.51dup (p.Leu18ThrfsTer21) c.1356dup (p.Leu453ThrfsTer21) c.52dup c.1395dup (p.Leu466ThrfsTer21) c.1377dup (p.Leu460ThrfsTer21) | |
22 | g.50697615del | CA2657598779 | SHANK3 | c.999del (p.Lys333AsnfsTer14) n.1583del c.51del (p.Lys17AsnfsTer14) c.1356del (p.Lys452AsnfsTer14) c.52del c.1395del (p.Lys465AsnfsTer14) c.1377del (p.Lys459AsnfsTer14) | gnomAD v4 |
22 | g.50697613_50697622del | CA2819325448 | SHANK3 | c.997_1006del (p.Lys333AlafsTer11) n.1581_1590del c.49_58del (p.Lys17AlafsTer11) c.1354_1363del (p.Lys452AlafsTer11) c.50_59del c.1393_1402del (p.Lys465AlafsTer11) c.1375_1384del (p.Lys459AlafsTer11) | |
22 | g.50697613_50697624del | CA1026687777 | SHANK3 | c.997_1008del (p.Lys333_Ser336del) n.1581_1592del c.49_60del (p.Lys17_Ser20del) c.1354_1365del (p.Lys452_Ser455del) c.50_61del c.1393_1404del (p.Lys465_Ser468del) c.1375_1386del (p.Lys459_Ser462del) | gnomAD v3 gnomAD v4 |
22 | g.50697614A>C | CA515254988 | SHANK3 | c.998A>C (p.Lys333Thr) n.1582A>C c.50A>C (p.Lys17Thr) c.1355A>C (p.Lys452Thr) c.51A>C c.1394A>C (p.Lys465Thr) c.1376A>C (p.Lys459Thr) | gnomAD v3 gnomAD v4 |
22 | g.50697614A>G | CA515254987 | SHANK3 | c.998A>G (p.Lys333Arg) n.1582A>G c.50A>G (p.Lys17Arg) c.1355A>G (p.Lys452Arg) c.51A>G c.1394A>G (p.Lys465Arg) c.1376A>G (p.Lys459Arg) | gnomAD v4 |
22 | g.50697614A>T | CA515254986 | SHANK3 | c.998A>T (p.Lys333Ile) n.1582A>T c.50A>T (p.Lys17Ile) c.1355A>T (p.Lys452Ile) c.51A>T c.1394A>T (p.Lys465Ile) c.1376A>T (p.Lys459Ile) | |
22 | g.50697614_50697615insGATCTACTA | CA2657598782 | SHANK3 | c.998_999insGATCTACTA (p.Lys334IlefsTer3) n.1582_1583insGATCTACTA c.50_51insGATCTACTA (p.Lys18IlefsTer3) c.1355_1356insGATCTACTA (p.Lys453IlefsTer3) c.51_52insGATCTACTA c.1394_1395insGATCTACTA (p.Lys466IlefsTer3) c.1376_1377insGATCTACTA (p.Lys460IlefsTer3) | gnomAD v4 |
22 | g.50697615A>C | CA515254989 | SHANK3 | c.999A>C (p.Lys333Asn) n.1583A>C c.51A>C (p.Lys17Asn) c.1356A>C (p.Lys452Asn) c.52A>C c.1395A>C (p.Lys465Asn) c.1377A>C (p.Lys459Asn) | gnomAD v4 |
22 | g.50697615A>G | CA515254990 | SHANK3 | c.999A>G (p.Lys333=) n.1583A>G c.51A>G (p.Lys17=) c.1356A>G (p.Lys452=) c.52A>G c.1395A>G (p.Lys465=) c.1377A>G (p.Lys459=) | gnomAD v4 |
22 | g.50697615A>T | CA515254991 | SHANK3 | c.999A>T (p.Lys333Asn) n.1583A>T c.51A>T (p.Lys17Asn) c.1356A>T (p.Lys452Asn) c.52A>T c.1395A>T (p.Lys465Asn) c.1377A>T (p.Lys459Asn) | |
22 | g.50697616C>A | CA515254992 | SHANK3 | c.1000C>A (p.Leu334Ile) n.1584C>A c.52C>A (p.Leu18Ile) c.1357C>A (p.Leu453Ile) c.53C>A c.1396C>A (p.Leu466Ile) c.1378C>A (p.Leu460Ile) | gnomAD v4 |
22 | g.50697616C>G | CA515254993 | SHANK3 | c.1000C>G (p.Leu334Val) n.1584C>G c.52C>G (p.Leu18Val) c.1357C>G (p.Leu453Val) c.53C>G c.1396C>G (p.Leu466Val) c.1378C>G (p.Leu460Val) | |
22 | g.50697616C>T | CA515254994 | SHANK3 | c.1000C>T (p.Leu334Phe) n.1584C>T c.52C>T (p.Leu18Phe) c.1357C>T (p.Leu453Phe) c.53C>T c.1396C>T (p.Leu466Phe) c.1378C>T (p.Leu460Phe) | gnomAD v4 |
22 | g.50697617T>A | CA515254995 | SHANK3 | c.1001T>A (p.Leu334His) n.1585T>A c.53T>A (p.Leu18His) c.1358T>A (p.Leu453His) c.54T>A c.1397T>A (p.Leu466His) c.1379T>A (p.Leu460His) | |
22 | g.50697617T>C | CA515254996 | SHANK3 | c.1001T>C (p.Leu334Pro) n.1585T>C c.53T>C (p.Leu18Pro) c.1358T>C (p.Leu453Pro) c.54T>C c.1397T>C (p.Leu466Pro) c.1379T>C (p.Leu460Pro) | gnomAD v4 |
22 | g.50697617T>G | CA515254997 | SHANK3 | c.1001T>G (p.Leu334Arg) n.1585T>G c.53T>G (p.Leu18Arg) c.1358T>G (p.Leu453Arg) c.54T>G c.1397T>G (p.Leu466Arg) c.1379T>G (p.Leu460Arg) | gnomAD v4 |
22 | g.50697619del | CA2657598789 | SHANK3 | c.1003del (p.Tyr335ThrfsTer12) n.1587del c.55del (p.Tyr19ThrfsTer12) c.1360del (p.Tyr454ThrfsTer12) c.56del c.1399del (p.Tyr467ThrfsTer12) c.1381del (p.Tyr461ThrfsTer12) | gnomAD v4 |
22 | g.50697618T>A | CA515254998 | SHANK3 | c.1002T>A (p.Leu334=) n.1586T>A c.54T>A (p.Leu18=) c.1359T>A (p.Leu453=) c.55T>A c.1398T>A (p.Leu466=) c.1380T>A (p.Leu460=) | gnomAD v4 |
22 | g.50697618T>C | CA515254999 | SHANK3 | c.1002T>C (p.Leu334=) n.1586T>C c.54T>C (p.Leu18=) c.1359T>C (p.Leu453=) c.55T>C c.1398T>C (p.Leu466=) c.1380T>C (p.Leu460=) | gnomAD v4 |
22 | g.50697618T>G | CA515255000 | SHANK3 | c.1002T>G (p.Leu334=) n.1586T>G c.54T>G (p.Leu18=) c.1359T>G (p.Leu453=) c.55T>G c.1398T>G (p.Leu466=) c.1380T>G (p.Leu460=) | |
22 | g.50697619T>A | CA515255001 | SHANK3 | c.1003T>A (p.Tyr335Asn) n.1587T>A c.55T>A (p.Tyr19Asn) c.1360T>A (p.Tyr454Asn) c.56T>A c.1399T>A (p.Tyr467Asn) c.1381T>A (p.Tyr461Asn) | |
22 | g.50697619T>C | CA515255003 | SHANK3 | c.1003T>C (p.Tyr335His) n.1587T>C c.55T>C (p.Tyr19His) c.1360T>C (p.Tyr454His) c.56T>C c.1399T>C (p.Tyr467His) c.1381T>C (p.Tyr461His) | gnomAD v4 |
22 | g.50697619T>G | CA515255002 | SHANK3 | c.1003T>G (p.Tyr335Asp) n.1587T>G c.55T>G (p.Tyr19Asp) c.1360T>G (p.Tyr454Asp) c.56T>G c.1399T>G (p.Tyr467Asp) c.1381T>G (p.Tyr461Asp) | |
22 | g.50697620A= | CA2410995379 | SHANK3 | c.1004A= (p.Tyr335=) n.1588A= c.56A= (p.Tyr19=) c.1361A= (p.Tyr454=) c.57A= c.1400A= (p.Tyr467=) c.1382A= (p.Tyr461=) | |
22 | g.50697620A>C | CA515255004 | SHANK3 | c.1004A>C (p.Tyr335Ser) n.1588A>C c.56A>C (p.Tyr19Ser) c.1361A>C (p.Tyr454Ser) c.57A>C c.1400A>C (p.Tyr467Ser) c.1382A>C (p.Tyr461Ser) | |
22 | g.50697620A>G | CA515255005 | SHANK3 | c.1004A>G (p.Tyr335Cys) n.1588A>G c.56A>G (p.Tyr19Cys) c.1361A>G (p.Tyr454Cys) c.57A>G c.1400A>G (p.Tyr467Cys) c.1382A>G (p.Tyr461Cys) | gnomAD v4 |
22 | g.50697620A>T | CA10325521 | SHANK3 | c.1004A>T (p.Tyr335Phe) n.1588A>T c.56A>T (p.Tyr19Phe) c.1361A>T (p.Tyr454Phe) c.57A>T c.1400A>T (p.Tyr467Phe) c.1382A>T (p.Tyr461Phe) | dbSNP ExAC gnomAD v4 |
22 | g.50697621_50697622del | CA2657598797 | SHANK3 | c.1005_1006del (p.Tyr335Ter) n.1589_1590del c.57_58del (p.Tyr19Ter) c.1362_1363del (p.Tyr454Ter) c.58_59del c.1401_1402del (p.Tyr467Ter) c.1383_1384del (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621del | CA2819325449 | SHANK3 | c.1005del (p.Tyr335Ter) n.1589del c.57del (p.Tyr19Ter) c.1362del (p.Tyr454Ter) c.58del c.1401del (p.Tyr467Ter) c.1383del (p.Tyr461Ter) | |
22 | g.50697621C>A | CA515255006 | SHANK3 | c.1005C>A (p.Tyr335Ter) n.1589C>A c.57C>A (p.Tyr19Ter) c.1362C>A (p.Tyr454Ter) c.58C>A c.1401C>A (p.Tyr467Ter) c.1383C>A (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621C= | CA2410995380 | SHANK3 | c.1005C= (p.Tyr335=) n.1589C= c.57C= (p.Tyr19=) c.1362C= (p.Tyr454=) c.58C= c.1401C= (p.Tyr467=) c.1383C= (p.Tyr461=) | |
22 | g.50697621C>G | CA515255007 | SHANK3 | c.1005C>G (p.Tyr335Ter) n.1589C>G c.57C>G (p.Tyr19Ter) c.1362C>G (p.Tyr454Ter) c.58C>G c.1401C>G (p.Tyr467Ter) c.1383C>G (p.Tyr461Ter) | gnomAD v4 |
22 | g.50697621C>T | CA10325522 | SHANK3 | c.1005C>T (p.Tyr335=) n.1589C>T c.57C>T (p.Tyr19=) c.1362C>T (p.Tyr454=) c.58C>T c.1401C>T (p.Tyr467=) c.1383C>T (p.Tyr461=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697621dup | CA2839095021 | SHANK3 | c.1005dup (p.Ser336GlnfsTer19) n.1589dup c.57dup (p.Ser20GlnfsTer19) c.1362dup (p.Ser455GlnfsTer19) c.58dup c.1401dup (p.Ser468GlnfsTer19) c.1383dup (p.Ser462GlnfsTer19) | |
22 | g.50697622A>C | CA515255008 | SHANK3 | c.1006A>C (p.Ser336Arg) n.1590A>C c.58A>C (p.Ser20Arg) c.1363A>C (p.Ser455Arg) c.59A>C c.1402A>C (p.Ser468Arg) c.1384A>C (p.Ser462Arg) | gnomAD v4 |
22 | g.50697622A>G | CA515255009 | SHANK3 | c.1006A>G (p.Ser336Gly) n.1590A>G c.58A>G (p.Ser20Gly) c.1363A>G (p.Ser455Gly) c.59A>G c.1402A>G (p.Ser468Gly) c.1384A>G (p.Ser462Gly) | gnomAD v4 |
22 | g.50697622A>T | CA515255010 | SHANK3 | c.1006A>T (p.Ser336Cys) n.1590A>T c.58A>T (p.Ser20Cys) c.1363A>T (p.Ser455Cys) c.59A>T c.1402A>T (p.Ser468Cys) c.1384A>T (p.Ser462Cys) | gnomAD v4 |
22 | g.50697623G>A | CA515255011 | SHANK3 | c.1007G>A (p.Ser336Asn) n.1591G>A c.59G>A (p.Ser20Asn) c.1364G>A (p.Ser455Asn) c.60G>A c.1403G>A (p.Ser468Asn) c.1385G>A (p.Ser462Asn) | gnomAD v4 |
22 | g.50697623G>C | CA515255012 | SHANK3 | c.1007G>C (p.Ser336Thr) n.1591G>C c.59G>C (p.Ser20Thr) c.1364G>C (p.Ser455Thr) c.60G>C c.1403G>C (p.Ser468Thr) c.1385G>C (p.Ser462Thr) | |
22 | g.50697623G>T | CA515255013 | SHANK3 | c.1007G>T (p.Ser336Ile) n.1591G>T c.59G>T (p.Ser20Ile) c.1364G>T (p.Ser455Ile) c.60G>T c.1403G>T (p.Ser468Ile) c.1385G>T (p.Ser462Ile) | gnomAD v4 |
22 | g.50697624C>A | CA515255014 | SHANK3 | c.1008C>A (p.Ser336Arg) n.1592C>A c.60C>A (p.Ser20Arg) c.1365C>A (p.Ser455Arg) c.61C>A c.1404C>A (p.Ser468Arg) c.1386C>A (p.Ser462Arg) | gnomAD v4 |
22 | g.50697624C= | CA2410995381 | SHANK3 | c.1008C= (p.Ser336=) n.1592C= c.60C= (p.Ser20=) c.1365C= (p.Ser455=) c.61C= c.1404C= (p.Ser468=) c.1386C= (p.Ser462=) | |
22 | g.50697624C>G | CA515255015 | SHANK3 | c.1008C>G (p.Ser336Arg) n.1592C>G c.60C>G (p.Ser20Arg) c.1365C>G (p.Ser455Arg) c.61C>G c.1404C>G (p.Ser468Arg) c.1386C>G (p.Ser462Arg) | gnomAD v4 |
22 | g.50697624C>T | CA515255016 | SHANK3 | c.1008C>T (p.Ser336=) n.1592C>T c.60C>T (p.Ser20=) c.1365C>T (p.Ser455=) c.61C>T c.1404C>T (p.Ser468=) c.1386C>T (p.Ser462=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697625G>A | CA515255017 | SHANK3 | c.1009G>A (p.Ala337Thr) n.1593G>A c.61G>A (p.Ala21Thr) c.1366G>A (p.Ala456Thr) c.62G>A c.1405G>A (p.Ala469Thr) c.1387G>A (p.Ala463Thr) | gnomAD v4 |
22 | g.50697625G>C | CA515255018 | SHANK3 | c.1009G>C (p.Ala337Pro) n.1593G>C c.61G>C (p.Ala21Pro) c.1366G>C (p.Ala456Pro) c.62G>C c.1405G>C (p.Ala469Pro) c.1387G>C (p.Ala463Pro) | gnomAD v4 |
22 | g.50697625G>T | CA515255019 | SHANK3 | c.1009G>T (p.Ala337Ser) n.1593G>T c.61G>T (p.Ala21Ser) c.1366G>T (p.Ala456Ser) c.62G>T c.1405G>T (p.Ala469Ser) c.1387G>T (p.Ala463Ser) | gnomAD v4 |
22 | g.50697626C>A | CA515255020 | SHANK3 | c.1010C>A (p.Ala337Asp) n.1594C>A c.62C>A (p.Ala21Asp) c.1367C>A (p.Ala456Asp) c.63C>A c.1406C>A (p.Ala469Asp) c.1388C>A (p.Ala463Asp) | gnomAD v4 |
22 | g.50697626C>G | CA515255022 | SHANK3 | c.1010C>G (p.Ala337Gly) n.1594C>G c.62C>G (p.Ala21Gly) c.1367C>G (p.Ala456Gly) c.63C>G c.1406C>G (p.Ala469Gly) c.1388C>G (p.Ala463Gly) | gnomAD v4 |
22 | g.50697626C>T | CA515255021 | SHANK3 | c.1010C>T (p.Ala337Val) n.1594C>T c.62C>T (p.Ala21Val) c.1367C>T (p.Ala456Val) c.63C>T c.1406C>T (p.Ala469Val) c.1388C>T (p.Ala463Val) | gnomAD v4 |
22 | g.50697627C>A | CA515255023 | SHANK3 | c.1011C>A (p.Ala337=) n.1595C>A c.63C>A (p.Ala21=) c.1368C>A (p.Ala456=) c.64C>A c.1407C>A (p.Ala469=) c.1389C>A (p.Ala463=) | gnomAD v4 |
22 | g.50697627C= | CA2410995382 | SHANK3 | c.1011C= (p.Ala337=) n.1595C= c.63C= (p.Ala21=) c.1368C= (p.Ala456=) c.64C= c.1407C= (p.Ala469=) c.1389C= (p.Ala463=) | |
22 | g.50697627C>G | CA515255024 | SHANK3 | c.1011C>G (p.Ala337=) n.1595C>G c.63C>G (p.Ala21=) c.1368C>G (p.Ala456=) c.64C>G c.1407C>G (p.Ala469=) c.1389C>G (p.Ala463=) | gnomAD v4 |
22 | g.50697627C>T | CA10325523 | SHANK3 | c.1011C>T (p.Ala337=) n.1595C>T c.63C>T (p.Ala21=) c.1368C>T (p.Ala456=) c.64C>T c.1407C>T (p.Ala469=) c.1389C>T (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697628G>A | CA515255025 | SHANK3 | c.1012G>A (p.Val338Ile) n.1596G>A c.64G>A (p.Val22Ile) c.1369G>A (p.Val457Ile) c.65G>A c.1408G>A (p.Val470Ile) c.1390G>A (p.Val464Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697628G>C | CA515255026 | SHANK3 | c.1012G>C (p.Val338Leu) n.1596G>C c.64G>C (p.Val22Leu) c.1369G>C (p.Val457Leu) c.65G>C c.1408G>C (p.Val470Leu) c.1390G>C (p.Val464Leu) | |
22 | g.50697628G= | CA2410995383 | SHANK3 | c.1012G= (p.Val338=) n.1596G= c.64G= (p.Val22=) c.1369G= (p.Val457=) c.65G= c.1408G= (p.Val470=) c.1390G= (p.Val464=) | |
22 | g.50697628G>T | CA515255027 | SHANK3 | c.1012G>T (p.Val338Phe) n.1596G>T c.64G>T (p.Val22Phe) c.1369G>T (p.Val457Phe) c.65G>T c.1408G>T (p.Val470Phe) c.1390G>T (p.Val464Phe) | gnomAD v4 |
22 | g.50697629T>A | CA515255028 | SHANK3 | c.1013T>A (p.Val338Asp) n.1597T>A c.65T>A (p.Val22Asp) c.1370T>A (p.Val457Asp) c.66T>A c.1409T>A (p.Val470Asp) c.1391T>A (p.Val464Asp) | |
22 | g.50697629T>C | CA515255029 | SHANK3 | c.1013T>C (p.Val338Ala) n.1597T>C c.65T>C (p.Val22Ala) c.1370T>C (p.Val457Ala) c.66T>C c.1409T>C (p.Val470Ala) c.1391T>C (p.Val464Ala) | gnomAD v4 |
22 | g.50697629T>G | CA515255030 | SHANK3 | c.1013T>G (p.Val338Gly) n.1597T>G c.65T>G (p.Val22Gly) c.1370T>G (p.Val457Gly) c.66T>G c.1409T>G (p.Val470Gly) c.1391T>G (p.Val464Gly) | |
22 | g.50697629_50697630delinsTC | CA2410995384 | SHANK3 | c.1013_1014delinsTC (p.Val338=) n.1597_1598delinsTC c.65_66delinsTC (p.Val22=) c.1370_1371delinsTC (p.Val457=) c.66_67delinsTC c.1409_1410delinsTC (p.Val470=) c.1391_1392delinsTC (p.Val464=) | |
22 | g.50697630C>A | CA515255033 | SHANK3 | c.1014C>A (p.Val338=) n.1598C>A c.66C>A (p.Val22=) c.1371C>A (p.Val457=) c.67C>A c.1410C>A (p.Val470=) c.1392C>A (p.Val464=) | gnomAD v4 |
22 | g.50697630C= | CA2410995385 | SHANK3 | c.1014C= (p.Val338=) n.1598C= c.66C= (p.Val22=) c.1371C= (p.Val457=) c.67C= c.1410C= (p.Val470=) c.1392C= (p.Val464=) | |
22 | g.50697630C>G | CA515255032 | SHANK3 | c.1014C>G (p.Val338=) n.1598C>G c.66C>G (p.Val22=) c.1371C>G (p.Val457=) c.67C>G c.1410C>G (p.Val470=) c.1392C>G (p.Val464=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697630C>T | CA515255031 | SHANK3 | c.1014C>T (p.Val338=) n.1598C>T c.66C>T (p.Val22=) c.1371C>T (p.Val457=) c.67C>T c.1410C>T (p.Val470=) c.1392C>T (p.Val464=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697633del | CA640359026 | SHANK3 | c.1017del (p.Gly340AlafsTer7) n.1601del c.69del (p.Gly24AlafsTer7) c.1374del (p.Gly459AlafsTer7) c.70del c.1413del (p.Gly472AlafsTer7) c.1395del (p.Gly466AlafsTer7) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697631C>A | CA515255034 | SHANK3 | c.1015C>A (p.Pro339Thr) n.1599C>A c.67C>A (p.Pro23Thr) c.1372C>A (p.Pro458Thr) c.68C>A c.1411C>A (p.Pro471Thr) c.1393C>A (p.Pro465Thr) | gnomAD v4 |
22 | g.50697631C>G | CA515255035 | SHANK3 | c.1015C>G (p.Pro339Ala) n.1599C>G c.67C>G (p.Pro23Ala) c.1372C>G (p.Pro458Ala) c.68C>G c.1411C>G (p.Pro471Ala) c.1393C>G (p.Pro465Ala) | |
22 | g.50697631C>T | CA515255036 | SHANK3 | c.1015C>T (p.Pro339Ser) n.1599C>T c.67C>T (p.Pro23Ser) c.1372C>T (p.Pro458Ser) c.68C>T c.1411C>T (p.Pro471Ser) c.1393C>T (p.Pro465Ser) | gnomAD v4 |
22 | g.50697632C>A | CA515255037 | SHANK3 | c.1016C>A (p.Pro339His) n.1600C>A c.68C>A (p.Pro23His) c.1373C>A (p.Pro458His) c.69C>A c.1412C>A (p.Pro471His) c.1394C>A (p.Pro465His) | gnomAD v4 |
22 | g.50697632C>G | CA515255038 | SHANK3 | c.1016C>G (p.Pro339Arg) n.1600C>G c.68C>G (p.Pro23Arg) c.1373C>G (p.Pro458Arg) c.69C>G c.1412C>G (p.Pro471Arg) c.1394C>G (p.Pro465Arg) | gnomAD v4 |
22 | g.50697632C>T | CA515255039 | SHANK3 | c.1016C>T (p.Pro339Leu) n.1600C>T c.68C>T (p.Pro23Leu) c.1373C>T (p.Pro458Leu) c.69C>T c.1412C>T (p.Pro471Leu) c.1394C>T (p.Pro465Leu) | gnomAD v4 |
22 | g.50697633C>A | CA515255040 | SHANK3 | c.1017C>A (p.Pro339=) n.1601C>A c.69C>A (p.Pro23=) c.1374C>A (p.Pro458=) c.70C>A c.1413C>A (p.Pro471=) c.1395C>A (p.Pro465=) | gnomAD v4 |
22 | g.50697633C= | CA2410995386 | SHANK3 | c.1017C= (p.Pro339=) n.1601C= c.69C= (p.Pro23=) c.1374C= (p.Pro458=) c.70C= c.1413C= (p.Pro471=) c.1395C= (p.Pro465=) | |
22 | g.50697633C>G | CA515255041 | SHANK3 | c.1017C>G (p.Pro339=) n.1601C>G c.69C>G (p.Pro23=) c.1374C>G (p.Pro458=) c.70C>G c.1413C>G (p.Pro471=) c.1395C>G (p.Pro465=) | dbSNP gnomAD v4 |
22 | g.50697633C>T | CA325553955 | SHANK3 | c.1017C>T (p.Pro339=) n.1601C>T c.69C>T (p.Pro23=) c.1374C>T (p.Pro458=) c.70C>T c.1413C>T (p.Pro471=) c.1395C>T (p.Pro465=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697634G>A | CA515255042 | SHANK3 | c.1018G>A (p.Gly340Ser) n.1602G>A c.70G>A (p.Gly24Ser) c.1375G>A (p.Gly459Ser) c.71G>A c.1414G>A (p.Gly472Ser) c.1396G>A (p.Gly466Ser) | gnomAD v4 |
22 | g.50697634G>C | CA515255043 | SHANK3 | c.1018G>C (p.Gly340Arg) n.1602G>C c.70G>C (p.Gly24Arg) c.1375G>C (p.Gly459Arg) c.71G>C c.1414G>C (p.Gly472Arg) c.1396G>C (p.Gly466Arg) | gnomAD v4 |
22 | g.50697634G>T | CA515255044 | SHANK3 | c.1018G>T (p.Gly340Cys) n.1602G>T c.70G>T (p.Gly24Cys) c.1375G>T (p.Gly459Cys) c.71G>T c.1414G>T (p.Gly472Cys) c.1396G>T (p.Gly466Cys) | gnomAD v4 |
22 | g.50697634_50697635del | CA2819325450 | SHANK3 | c.1018_1019del (p.Gly340ProfsTer14) n.1602_1603del c.70_71del (p.Gly24ProfsTer14) c.1375_1376del (p.Gly459ProfsTer14) c.71_72del c.1414_1415del (p.Gly472ProfsTer14) c.1396_1397del (p.Gly466ProfsTer14) | |
22 | g.50697635G>A | CA515255047 | SHANK3 | c.1019G>A (p.Gly340Asp) n.1603G>A c.71G>A (p.Gly24Asp) c.1376G>A (p.Gly459Asp) c.72G>A c.1415G>A (p.Gly472Asp) c.1397G>A (p.Gly466Asp) | gnomAD v4 |
22 | g.50697635G>C | CA515255045 | SHANK3 | c.1019G>C (p.Gly340Ala) n.1603G>C c.71G>C (p.Gly24Ala) c.1376G>C (p.Gly459Ala) c.72G>C c.1415G>C (p.Gly472Ala) c.1397G>C (p.Gly466Ala) | gnomAD v4 |
22 | g.50697635G>T | CA515255046 | SHANK3 | c.1019G>T (p.Gly340Val) n.1603G>T c.71G>T (p.Gly24Val) c.1376G>T (p.Gly459Val) c.72G>T c.1415G>T (p.Gly472Val) c.1397G>T (p.Gly466Val) | gnomAD v4 |
22 | g.50697636C>A | CA515255048 | SHANK3 | c.1020C>A (p.Gly340=) n.1604C>A c.72C>A (p.Gly24=) c.1377C>A (p.Gly459=) c.73C>A c.1416C>A (p.Gly472=) c.1398C>A (p.Gly466=) | gnomAD v4 |
22 | g.50697636C= | CA2410995387 | SHANK3 | c.1020C= (p.Gly340=) n.1604C= c.72C= (p.Gly24=) c.1377C= (p.Gly459=) c.73C= c.1416C= (p.Gly472=) c.1398C= (p.Gly466=) | |
22 | g.50697636C>G | CA515255049 | SHANK3 | c.1020C>G (p.Gly340=) n.1604C>G c.72C>G (p.Gly24=) c.1377C>G (p.Gly459=) c.73C>G c.1416C>G (p.Gly472=) c.1398C>G (p.Gly466=) | gnomAD v4 |
22 | g.50697636C>T | CA515255050 | SHANK3 | c.1020C>T (p.Gly340=) n.1604C>T c.72C>T (p.Gly24=) c.1377C>T (p.Gly459=) c.73C>T c.1416C>T (p.Gly472=) c.1398C>T (p.Gly466=) | dbSNP gnomAD v4 |
22 | g.50697637C>A | CA515255051 | SHANK3 | c.1021C>A (p.Arg341Ser) n.1605C>A c.73C>A (p.Arg25Ser) c.1378C>A (p.Arg460Ser) c.74C>A c.1417C>A (p.Arg473Ser) c.1399C>A (p.Arg467Ser) | gnomAD v4 |
22 | g.50697637C>G | CA515255052 | SHANK3 | c.1021C>G (p.Arg341Gly) n.1605C>G c.73C>G (p.Arg25Gly) c.1378C>G (p.Arg460Gly) c.74C>G c.1417C>G (p.Arg473Gly) c.1399C>G (p.Arg467Gly) | gnomAD v4 |
22 | g.50697637C>T | CA515255053 | SHANK3 | c.1021C>T (p.Arg341Cys) n.1605C>T c.73C>T (p.Arg25Cys) c.1378C>T (p.Arg460Cys) c.74C>T c.1417C>T (p.Arg473Cys) c.1399C>T (p.Arg467Cys) | gnomAD v4 |
22 | g.50697638del | CA2657598874 | SHANK3 | c.1022del (p.Arg341ProfsTer6) n.1606del c.74del (p.Arg25ProfsTer6) c.1379del (p.Arg460ProfsTer6) c.75del c.1418del (p.Arg473ProfsTer6) c.1400del (p.Arg467ProfsTer6) | gnomAD v4 |
22 | g.50697638G>A | CA515255054 | SHANK3 | c.1022G>A (p.Arg341His) n.1606G>A c.74G>A (p.Arg25His) c.1379G>A (p.Arg460His) c.75G>A c.1418G>A (p.Arg473His) c.1400G>A (p.Arg467His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697638G>C | CA515255055 | SHANK3 | c.1022G>C (p.Arg341Pro) n.1606G>C c.74G>C (p.Arg25Pro) c.1379G>C (p.Arg460Pro) c.75G>C c.1418G>C (p.Arg473Pro) c.1400G>C (p.Arg467Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697638G= | CA2410995388 | SHANK3 | c.1022G= (p.Arg341=) n.1606G= c.74G= (p.Arg25=) c.1379G= (p.Arg460=) c.75G= c.1418G= (p.Arg473=) c.1400G= (p.Arg467=) | |
22 | g.50697638G>T | CA515255056 | SHANK3 | c.1022G>T (p.Arg341Leu) n.1606G>T c.74G>T (p.Arg25Leu) c.1379G>T (p.Arg460Leu) c.75G>T c.1418G>T (p.Arg473Leu) c.1400G>T (p.Arg467Leu) | gnomAD v4 |
22 | g.50697639C>A | CA515255057 | SHANK3 | c.1023C>A (p.Arg341=) n.1607C>A c.75C>A (p.Arg25=) c.1380C>A (p.Arg460=) c.76C>A c.1419C>A (p.Arg473=) c.1401C>A (p.Arg467=) | gnomAD v4 |
22 | g.50697639C>G | CA515255058 | SHANK3 | c.1023C>G (p.Arg341=) n.1607C>G c.75C>G (p.Arg25=) c.1380C>G (p.Arg460=) c.76C>G c.1419C>G (p.Arg473=) c.1401C>G (p.Arg467=) | gnomAD v4 |
22 | g.50697639C>T | CA515255059 | SHANK3 | c.1023C>T (p.Arg341=) n.1607C>T c.75C>T (p.Arg25=) c.1380C>T (p.Arg460=) c.76C>T c.1419C>T (p.Arg473=) c.1401C>T (p.Arg467=) | gnomAD v4 |
22 | g.50697640A>C | CA515255061 | SHANK3 | c.1024A>C (p.Lys342Gln) n.1608A>C c.76A>C (p.Lys26Gln) c.1381A>C (p.Lys461Gln) c.77A>C c.1420A>C (p.Lys474Gln) c.1402A>C (p.Lys468Gln) | |
22 | g.50697640A>G | CA515255062 | SHANK3 | c.1024A>G (p.Lys342Glu) n.1608A>G c.76A>G (p.Lys26Glu) c.1381A>G (p.Lys461Glu) c.77A>G c.1420A>G (p.Lys474Glu) c.1402A>G (p.Lys468Glu) | gnomAD v4 |
22 | g.50697640A>T | CA515255060 | SHANK3 | c.1024A>T (p.Lys342Ter) n.1608A>T c.76A>T (p.Lys26Ter) c.1381A>T (p.Lys461Ter) c.77A>T c.1420A>T (p.Lys474Ter) c.1402A>T (p.Lys468Ter) | gnomAD v4 |
22 | g.50697641A= | CA2410995389 | SHANK3 | c.1025A= (p.Lys342=) n.1609A= c.77A= (p.Lys26=) c.1382A= (p.Lys461=) c.78A= c.1421A= (p.Lys474=) c.1403A= (p.Lys468=) | |
22 | g.50697641A>C | CA515255063 | SHANK3 | c.1025A>C (p.Lys342Thr) n.1609A>C c.77A>C (p.Lys26Thr) c.1382A>C (p.Lys461Thr) c.78A>C c.1421A>C (p.Lys474Thr) c.1403A>C (p.Lys468Thr) | gnomAD v4 |
22 | g.50697641A>G | CA10325524 | SHANK3 | c.1025A>G (p.Lys342Arg) n.1609A>G c.77A>G (p.Lys26Arg) c.1382A>G (p.Lys461Arg) c.78A>G c.1421A>G (p.Lys474Arg) c.1403A>G (p.Lys468Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697641A>T | CA515255064 | SHANK3 | c.1025A>T (p.Lys342Met) n.1609A>T c.77A>T (p.Lys26Met) c.1382A>T (p.Lys461Met) c.78A>T c.1421A>T (p.Lys474Met) c.1403A>T (p.Lys468Met) | gnomAD v4 |
22 | g.50697642G>A | CA515255065 | SHANK3 | c.1026G>A (p.Lys342=) n.1610G>A c.78G>A (p.Lys26=) c.1383G>A (p.Lys461=) c.79G>A c.1422G>A (p.Lys474=) c.1404G>A (p.Lys468=) | gnomAD v4 |
22 | g.50697642G>C | CA515255066 | SHANK3 | c.1026G>C (p.Lys342Asn) n.1610G>C c.78G>C (p.Lys26Asn) c.1383G>C (p.Lys461Asn) c.79G>C c.1422G>C (p.Lys474Asn) c.1404G>C (p.Lys468Asn) | gnomAD v4 |
22 | g.50697642G>T | CA515255067 | SHANK3 | c.1026G>T (p.Lys342Asn) n.1610G>T c.78G>T (p.Lys26Asn) c.1383G>T (p.Lys461Asn) c.79G>T c.1422G>T (p.Lys474Asn) c.1404G>T (p.Lys468Asn) | gnomAD v4 |
22 | g.50697643T>A | CA515255070 | SHANK3 | c.1027T>A (p.Phe343Ile) n.1611T>A c.79T>A (p.Phe27Ile) c.1384T>A (p.Phe462Ile) c.80T>A c.1423T>A (p.Phe475Ile) c.1405T>A (p.Phe469Ile) | gnomAD v4 |
22 | g.50697643T>C | CA515255068 | SHANK3 | c.1027T>C (p.Phe343Leu) n.1611T>C c.79T>C (p.Phe27Leu) c.1384T>C (p.Phe462Leu) c.80T>C c.1423T>C (p.Phe475Leu) c.1405T>C (p.Phe469Leu) | gnomAD v4 |
22 | g.50697643T>G | CA515255069 | SHANK3 | c.1027T>G (p.Phe343Val) n.1611T>G c.79T>G (p.Phe27Val) c.1384T>G (p.Phe462Val) c.80T>G c.1423T>G (p.Phe475Val) c.1405T>G (p.Phe469Val) | |
22 | g.50697644T>A | CA515255071 | SHANK3 | c.1028T>A (p.Phe343Tyr) n.1612T>A c.80T>A (p.Phe27Tyr) c.1385T>A (p.Phe462Tyr) c.81T>A c.1424T>A (p.Phe475Tyr) c.1406T>A (p.Phe469Tyr) | gnomAD v4 |
22 | g.50697644T>C | CA515255072 | SHANK3 | c.1028T>C (p.Phe343Ser) n.1612T>C c.80T>C (p.Phe27Ser) c.1385T>C (p.Phe462Ser) c.81T>C c.1424T>C (p.Phe475Ser) c.1406T>C (p.Phe469Ser) | gnomAD v4 |
22 | g.50697644T>G | CA515255073 | SHANK3 | c.1028T>G (p.Phe343Cys) n.1612T>G c.80T>G (p.Phe27Cys) c.1385T>G (p.Phe462Cys) c.81T>G c.1424T>G (p.Phe475Cys) c.1406T>G (p.Phe469Cys) | |
22 | g.50697645C>A | CA515255074 | SHANK3 | c.1029C>A (p.Phe343Leu) n.1613C>A c.81C>A (p.Phe27Leu) c.1386C>A (p.Phe462Leu) c.82C>A c.1425C>A (p.Phe475Leu) c.1407C>A (p.Phe469Leu) | gnomAD v4 |
22 | g.50697645C>G | CA515255075 | SHANK3 | c.1029C>G (p.Phe343Leu) n.1613C>G c.81C>G (p.Phe27Leu) c.1386C>G (p.Phe462Leu) c.82C>G c.1425C>G (p.Phe475Leu) c.1407C>G (p.Phe469Leu) | |
22 | g.50697645C>T | CA515255076 | SHANK3 | c.1029C>T (p.Phe343=) n.1613C>T c.81C>T (p.Phe27=) c.1386C>T (p.Phe462=) c.82C>T c.1425C>T (p.Phe475=) c.1407C>T (p.Phe469=) | gnomAD v4 |
22 | g.50697646A>C | CA515255077 | SHANK3 | c.1030A>C (p.Ile344Leu) n.1614A>C c.82A>C (p.Ile28Leu) c.1387A>C (p.Ile463Leu) c.83A>C c.1426A>C (p.Ile476Leu) c.1408A>C (p.Ile470Leu) | gnomAD v4 |
22 | g.50697646A>G | CA515255079 | SHANK3 | c.1030A>G (p.Ile344Val) n.1614A>G c.82A>G (p.Ile28Val) c.1387A>G (p.Ile463Val) c.83A>G c.1426A>G (p.Ile476Val) c.1408A>G (p.Ile470Val) | gnomAD v4 |
22 | g.50697646A>T | CA515255078 | SHANK3 | c.1030A>T (p.Ile344Phe) n.1614A>T c.82A>T (p.Ile28Phe) c.1387A>T (p.Ile463Phe) c.83A>T c.1426A>T (p.Ile476Phe) c.1408A>T (p.Ile470Phe) | gnomAD v4 |
22 | g.50697647T>A | CA515255080 | SHANK3 | c.1031T>A (p.Ile344Asn) n.1615T>A c.83T>A (p.Ile28Asn) c.1388T>A (p.Ile463Asn) c.84T>A c.1427T>A (p.Ile476Asn) c.1409T>A (p.Ile470Asn) | gnomAD v4 |
22 | g.50697647T>C | CA515255081 | SHANK3 | c.1031T>C (p.Ile344Thr) n.1615T>C c.83T>C (p.Ile28Thr) c.1388T>C (p.Ile463Thr) c.84T>C c.1427T>C (p.Ile476Thr) c.1409T>C (p.Ile470Thr) | gnomAD v4 |
22 | g.50697647T>G | CA515255082 | SHANK3 | c.1031T>G (p.Ile344Ser) n.1615T>G c.83T>G (p.Ile28Ser) c.1388T>G (p.Ile463Ser) c.84T>G c.1427T>G (p.Ile476Ser) c.1409T>G (p.Ile470Ser) | |
22 | g.50697648C>A | CA515255083 | SHANK3 | c.1032C>A (p.Ile344=) n.1616C>A c.84C>A (p.Ile28=) c.1389C>A (p.Ile463=) c.85C>A c.1428C>A (p.Ile476=) c.1410C>A (p.Ile470=) | gnomAD v4 |
22 | g.50697648C= | CA2410995390 | SHANK3 | c.1032C= (p.Ile344=) n.1616C= c.84C= (p.Ile28=) c.1389C= (p.Ile463=) c.85C= c.1428C= (p.Ile476=) c.1410C= (p.Ile470=) | |
22 | g.50697648C>G | CA515255084 | SHANK3 | c.1032C>G (p.Ile344Met) n.1616C>G c.84C>G (p.Ile28Met) c.1389C>G (p.Ile463Met) c.85C>G c.1428C>G (p.Ile476Met) c.1410C>G (p.Ile470Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697648C>T | CA10325525 | SHANK3 | c.1032C>T (p.Ile344=) n.1616C>T c.84C>T (p.Ile28=) c.1389C>T (p.Ile463=) c.85C>T c.1428C>T (p.Ile476=) c.1410C>T (p.Ile470=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697649G>A | CA515255085 | SHANK3 | c.1033G>A (p.Ala345Thr) n.1617G>A c.85G>A (p.Ala29Thr) c.1390G>A (p.Ala464Thr) c.86G>A c.1429G>A (p.Ala477Thr) c.1411G>A (p.Ala471Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697649G>C | CA515255086 | SHANK3 | c.1033G>C (p.Ala345Pro) n.1617G>C c.85G>C (p.Ala29Pro) c.1390G>C (p.Ala464Pro) c.86G>C c.1429G>C (p.Ala477Pro) c.1411G>C (p.Ala471Pro) | gnomAD v4 |
22 | g.50697649G= | CA2410995391 | SHANK3 | c.1033G= (p.Ala345=) n.1617G= c.85G= (p.Ala29=) c.1390G= (p.Ala464=) c.86G= c.1429G= (p.Ala477=) c.1411G= (p.Ala471=) | |
22 | g.50697649G>T | CA515255087 | SHANK3 | c.1033G>T (p.Ala345Ser) n.1617G>T c.85G>T (p.Ala29Ser) c.1390G>T (p.Ala464Ser) c.86G>T c.1429G>T (p.Ala477Ser) c.1411G>T (p.Ala471Ser) | gnomAD v4 |
22 | g.50697659_50697715del | CA2657598927 | SHANK3 | c.1043_1099del (p.Ala348_Lys366del) n.1627_1683del c.95_151del (p.Ala32_Lys50del) c.1400_1456del (p.Ala467_Lys485del) c.96_152del c.1439_1495del (p.Ala480_Lys498del) c.1421_1477del (p.Ala474_Lys492del) | gnomAD v4 |
22 | g.50697650C>A | CA515255088 | SHANK3 | c.1034C>A (p.Ala345Asp) n.1618C>A c.86C>A (p.Ala29Asp) c.1391C>A (p.Ala464Asp) c.87C>A c.1430C>A (p.Ala477Asp) c.1412C>A (p.Ala471Asp) | gnomAD v4 |
22 | g.50697650C>G | CA515255089 | SHANK3 | c.1034C>G (p.Ala345Gly) n.1618C>G c.86C>G (p.Ala29Gly) c.1391C>G (p.Ala464Gly) c.87C>G c.1430C>G (p.Ala477Gly) c.1412C>G (p.Ala471Gly) | |
22 | g.50697650C>T | CA515255090 | SHANK3 | c.1034C>T (p.Ala345Val) n.1618C>T c.86C>T (p.Ala29Val) c.1391C>T (p.Ala464Val) c.87C>T c.1430C>T (p.Ala477Val) c.1412C>T (p.Ala471Val) | gnomAD v4 |
22 | g.50697651C>A | CA10325526 | SHANK3 | c.1035C>A (p.Ala345=) n.1619C>A c.87C>A (p.Ala29=) c.1392C>A (p.Ala464=) c.88C>A c.1431C>A (p.Ala477=) c.1413C>A (p.Ala471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50697651C= | CA2410995392 | SHANK3 | c.1035C= (p.Ala345=) n.1619C= c.87C= (p.Ala29=) c.1392C= (p.Ala464=) c.88C= c.1431C= (p.Ala477=) c.1413C= (p.Ala471=) | |
22 | g.50697651C>G | CA515255092 | SHANK3 | c.1035C>G (p.Ala345=) n.1619C>G c.87C>G (p.Ala29=) c.1392C>G (p.Ala464=) c.88C>G c.1431C>G (p.Ala477=) c.1413C>G (p.Ala471=) | gnomAD v4 |
22 | g.50697651C>T | CA515255091 | SHANK3 | c.1035C>T (p.Ala345=) n.1619C>T c.87C>T (p.Ala29=) c.1392C>T (p.Ala464=) c.88C>T c.1431C>T (p.Ala477=) c.1413C>T (p.Ala471=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697652del | CA2657598944 | SHANK3 | c.1036del (p.Val346Ter) n.1620del c.88del (p.Val30Ter) c.1393del (p.Val465Ter) c.89del c.1432del (p.Val478Ter) c.1414del (p.Val472Ter) | gnomAD v4 |
22 | g.50697652G>A | CA515255093 | SHANK3 | c.1036G>A (p.Val346Met) n.1620G>A c.88G>A (p.Val30Met) c.1393G>A (p.Val465Met) c.89G>A c.1432G>A (p.Val478Met) c.1414G>A (p.Val472Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50697652G>C | CA515255094 | SHANK3 | c.1036G>C (p.Val346Leu) n.1620G>C c.88G>C (p.Val30Leu) c.1393G>C (p.Val465Leu) c.89G>C c.1432G>C (p.Val478Leu) c.1414G>C (p.Val472Leu) | |
22 | g.50697652G= | CA2410995393 | SHANK3 | c.1036G= (p.Val346=) n.1620G= c.88G= (p.Val30=) c.1393G= (p.Val465=) c.89G= c.1432G= (p.Val478=) c.1414G= (p.Val472=) | |
22 | g.50697652G>T | CA515255095 | SHANK3 | c.1036G>T (p.Val346Leu) n.1620G>T c.88G>T (p.Val30Leu) c.1393G>T (p.Val465Leu) c.89G>T c.1432G>T (p.Val478Leu) c.1414G>T (p.Val472Leu) | gnomAD v4 |
22 | g.50697661_50697682del | CA2657598945 | SHANK3 | c.1045_1066del (p.His349ArgfsTer10) n.1629_1650del c.97_118del (p.His33ArgfsTer10) c.1402_1423del (p.His468ArgfsTer10) c.98_119del c.1441_1462del (p.His481ArgfsTer10) c.1423_1444del (p.His475ArgfsTer10) | gnomAD v4 |
22 | g.50697653T>A | CA515255096 | SHANK3 | c.1037T>A (p.Val346Glu) n.1621T>A c.89T>A (p.Val30Glu) c.1394T>A (p.Val465Glu) c.90T>A c.1433T>A (p.Val478Glu) c.1415T>A (p.Val472Glu) | gnomAD v4 |
22 | g.50697653T>C | CA515255097 | SHANK3 | c.1037T>C (p.Val346Ala) n.1621T>C c.89T>C (p.Val30Ala) c.1394T>C (p.Val465Ala) c.90T>C c.1433T>C (p.Val478Ala) c.1415T>C (p.Val472Ala) | gnomAD v4 |
22 | g.50697653T>G | CA515255098 | SHANK3 | c.1037T>G (p.Val346Gly) n.1621T>G c.89T>G (p.Val30Gly) c.1394T>G (p.Val465Gly) c.90T>G c.1433T>G (p.Val478Gly) c.1415T>G (p.Val472Gly) | |
22 | g.50697654G>A | CA515255099 | SHANK3 | c.1038G>A (p.Val346=) n.1622G>A c.90G>A (p.Val30=) c.1395G>A (p.Val465=) c.91G>A c.1434G>A (p.Val478=) c.1416G>A (p.Val472=) | gnomAD v4 |
22 | g.50697654G>C | CA515255100 | SHANK3 | c.1038G>C (p.Val346=) n.1622G>C c.90G>C (p.Val30=) c.1395G>C (p.Val465=) c.91G>C c.1434G>C (p.Val478=) c.1416G>C (p.Val472=) | gnomAD v4 |
22 | g.50697654G>T | CA515255101 | SHANK3 | c.1038G>T (p.Val346=) n.1622G>T c.90G>T (p.Val30=) c.1395G>T (p.Val465=) c.91G>T c.1434G>T (p.Val478=) c.1416G>T (p.Val472=) | gnomAD v4 |
22 | g.50697654_50697655delinsGA | CA2410995394 | SHANK3 | c.1038_1039delinsGA (p.Val346=) n.1622_1623delinsGA c.90_91delinsGA (p.Val30=) c.1395_1396delinsGA (p.Val465=) c.91_92delinsGA c.1434_1435delinsGA (p.Val478=) c.1416_1417delinsGA (p.Val472=) | |
22 | g.50697655A>C | CA515255102 | SHANK3 | c.1039A>C (p.Lys347Gln) n.1623A>C c.91A>C (p.Lys31Gln) c.1396A>C (p.Lys466Gln) c.92A>C c.1435A>C (p.Lys479Gln) c.1417A>C (p.Lys473Gln) | |
22 | g.50697655A>G | CA515255103 | SHANK3 | c.1039A>G (p.Lys347Glu) n.1623A>G c.91A>G (p.Lys31Glu) c.1396A>G (p.Lys466Glu) c.92A>G c.1435A>G (p.Lys479Glu) c.1417A>G (p.Lys473Glu) | gnomAD v4 |
22 | g.50697655A>T | CA515255104 | SHANK3 | c.1039A>T (p.Lys347Ter) n.1623A>T c.91A>T (p.Lys31Ter) c.1396A>T (p.Lys466Ter) c.92A>T c.1435A>T (p.Lys479Ter) c.1417A>T (p.Lys473Ter) | gnomAD v4 |
22 | g.50697656del | CA640359027 | SHANK3 | c.1040del (p.Lys347ArgfsTer19) n.1624del c.92del (p.Lys31ArgfsTer19) c.1397del (p.Lys466ArgfsTer19) c.93del c.1436del (p.Lys479ArgfsTer19) c.1418del (p.Lys473ArgfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697656A>C | CA515255107 | SHANK3 | c.1040A>C (p.Lys347Thr) n.1624A>C c.92A>C (p.Lys31Thr) c.1397A>C (p.Lys466Thr) c.93A>C c.1436A>C (p.Lys479Thr) c.1418A>C (p.Lys473Thr) | gnomAD v4 |
22 | g.50697656A>G | CA515255106 | SHANK3 | c.1040A>G (p.Lys347Arg) n.1624A>G c.92A>G (p.Lys31Arg) c.1397A>G (p.Lys466Arg) c.93A>G c.1436A>G (p.Lys479Arg) c.1418A>G (p.Lys473Arg) | gnomAD v4 |
22 | g.50697656A>T | CA515255105 | SHANK3 | c.1040A>T (p.Lys347Met) n.1624A>T c.92A>T (p.Lys31Met) c.1397A>T (p.Lys466Met) c.93A>T c.1436A>T (p.Lys479Met) c.1418A>T (p.Lys473Met) | gnomAD v4 |
22 | g.50697657G>A | CA515255108 | SHANK3 | c.1041G>A (p.Lys347=) n.1625G>A c.93G>A (p.Lys31=) c.1398G>A (p.Lys466=) c.94G>A c.1437G>A (p.Lys479=) c.1419G>A (p.Lys473=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697657G>C | CA515255109 | SHANK3 | c.1041G>C (p.Lys347Asn) n.1625G>C c.93G>C (p.Lys31Asn) c.1398G>C (p.Lys466Asn) c.94G>C c.1437G>C (p.Lys479Asn) c.1419G>C (p.Lys473Asn) | gnomAD v4 |
22 | g.50697657G= | CA2410995395 | SHANK3 | c.1041G= (p.Lys347=) n.1625G= c.93G= (p.Lys31=) c.1398G= (p.Lys466=) c.94G= c.1437G= (p.Lys479=) c.1419G= (p.Lys473=) | |
22 | g.50697657G>T | CA515255110 | SHANK3 | c.1041G>T (p.Lys347Asn) n.1625G>T c.93G>T (p.Lys31Asn) c.1398G>T (p.Lys466Asn) c.94G>T c.1437G>T (p.Lys479Asn) c.1419G>T (p.Lys473Asn) | gnomAD v4 |
22 | g.50697658G>A | CA515255111 | SHANK3 | c.1042G>A (p.Ala348Thr) n.1626G>A c.94G>A (p.Ala32Thr) c.1399G>A (p.Ala467Thr) c.95G>A c.1438G>A (p.Ala480Thr) c.1420G>A (p.Ala474Thr) | gnomAD v4 |
22 | g.50697658G>C | CA515255112 | SHANK3 | c.1042G>C (p.Ala348Pro) n.1626G>C c.94G>C (p.Ala32Pro) c.1399G>C (p.Ala467Pro) c.95G>C c.1438G>C (p.Ala480Pro) c.1420G>C (p.Ala474Pro) | gnomAD v4 |
22 | g.50697658G>T | CA515255113 | SHANK3 | c.1042G>T (p.Ala348Ser) n.1626G>T c.94G>T (p.Ala32Ser) c.1399G>T (p.Ala467Ser) c.95G>T c.1438G>T (p.Ala480Ser) c.1420G>T (p.Ala474Ser) | gnomAD v4 |
22 | g.50697659C>A | CA515255114 | SHANK3 | c.1043C>A (p.Ala348Glu) n.1627C>A c.95C>A (p.Ala32Glu) c.1400C>A (p.Ala467Glu) c.96C>A c.1439C>A (p.Ala480Glu) c.1421C>A (p.Ala474Glu) | gnomAD v4 |
22 | g.50697659C= | CA2410995396 | SHANK3 | c.1043C= (p.Ala348=) n.1627C= c.95C= (p.Ala32=) c.1400C= (p.Ala467=) c.96C= c.1439C= (p.Ala480=) c.1421C= (p.Ala474=) | |
22 | g.50697659C>G | CA515255115 | SHANK3 | c.1043C>G (p.Ala348Gly) n.1627C>G c.95C>G (p.Ala32Gly) c.1400C>G (p.Ala467Gly) c.96C>G c.1439C>G (p.Ala480Gly) c.1421C>G (p.Ala474Gly) | gnomAD v4 |
22 | g.50697659C>T | CA515255116 | SHANK3 | c.1043C>T (p.Ala348Val) n.1627C>T c.95C>T (p.Ala32Val) c.1400C>T (p.Ala467Val) c.96C>T c.1439C>T (p.Ala480Val) c.1421C>T (p.Ala474Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50697660G>A | CA515255117 | SHANK3 | c.1044G>A (p.Ala348=) n.1628G>A c.96G>A (p.Ala32=) c.1401G>A (p.Ala467=) c.97G>A c.1440G>A (p.Ala480=) c.1422G>A (p.Ala474=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50697660G>C | CA515255118 | SHANK3 | c.1044G>C (p.Ala348=) n.1628G>C c.96G>C (p.Ala32=) c.1401G>C (p.Ala467=) c.97G>C c.1440G>C (p.Ala480=) c.1422G>C (p.Ala474=) | gnomAD v4 |
22 | g.50697660G= | CA2410995397 | SHANK3 | c.1044G= (p.Ala348=) n.1628G= c.96G= (p.Ala32=) c.1401G= (p.Ala467=) c.97G= c.1440G= (p.Ala480=) c.1422G= (p.Ala474=) | |
22 | g.50697660G>T | CA515255119 | SHANK3 | c.1044G>T (p.Ala348=) n.1628G>T c.96G>T (p.Ala32=) c.1401G>T (p.Ala467=) c.97G>T c.1440G>T (p.Ala480=) c.1422G>T (p.Ala474=) | dbSNP gnomAD v4 |
22 | g.50697661del | CA2657598971 | SHANK3 | c.1045del (p.His349ThrfsTer17) n.1629del c.97del (p.His33ThrfsTer17) c.1402del (p.His468ThrfsTer17) c.98del c.1441del (p.His481ThrfsTer17) c.1423del (p.His475ThrfsTer17) | gnomAD v4 |
22 | g.50697661C>A | CA515255122 | SHANK3 | c.1045C>A (p.His349Asn) n.1629C>A c.97C>A (p.His33Asn) c.1402C>A (p.His468Asn) c.98C>A c.1441C>A (p.His481Asn) c.1423C>A (p.His475Asn) | gnomAD v4 |
22 | g.50697661C>G | CA515255121 | SHANK3 | c.1045C>G (p.His349Asp) n.1629C>G c.97C>G (p.His33Asp) c.1402C>G (p.His468Asp) c.98C>G c.1441C>G (p.His481Asp) c.1423C>G (p.His475Asp) | |
22 | g.50697661C>T | CA515255120 | SHANK3 | c.1045C>T (p.His349Tyr) n.1629C>T c.97C>T (p.His33Tyr) c.1402C>T (p.His468Tyr) c.98C>T c.1441C>T (p.His481Tyr) c.1423C>T (p.His475Tyr) | gnomAD v4 |
22 | g.50697662A>C | CA515255123 | SHANK3 | c.1046A>C (p.His349Pro) n.1630A>C c.98A>C (p.His33Pro) c.1403A>C (p.His468Pro) c.99A>C c.1442A>C (p.His481Pro) c.1424A>C (p.His475Pro) | |
22 | g.50697662A>G | CA515255125 | SHANK3 | c.1046A>G (p.His349Arg) n.1630A>G c.98A>G (p.His33Arg) c.1403A>G (p.His468Arg) c.99A>G c.1442A>G (p.His481Arg) c.1424A>G (p.His475Arg) | gnomAD v4 |
22 | g.50697662A>T | CA515255124 | SHANK3 | c.1046A>T (p.His349Leu) n.1630A>T c.98A>T (p.His33Leu) c.1403A>T (p.His468Leu) c.99A>T c.1442A>T (p.His481Leu) c.1424A>T (p.His475Leu) | gnomAD v4 |
22 | g.50697663C>A | CA515255126 | SHANK3 | c.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 |
22 | g.50697663C= | CA2410995398 | SHANK3 | c.1047C= (p.His349=) n.1631C= c.99C= (p.His33=) c.1404C= (p.His468=) c.100C= c.1443C= (p.His481=) c.1425C= (p.His475=) | |
22 | g.50697663C>G | CA515255128 | SHANK3 | c.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 |
22 | g.50697663C>T | CA515255127 | SHANK3 | c.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 |
22 | g.50697664A>C | CA515255129 | SHANK3 | c.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 |
22 | g.50697664A>G | CA515255131 | SHANK3 | c.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 |
22 | g.50697664A>T | CA515255130 | SHANK3 | c.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 |
22 | g.50697665G>A | CA10325527 | SHANK3 | c.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 |
22 | g.50697665G>C | CA515255133 | SHANK3 | c.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 |
22 | g.50697665G= | CA2410995399 | SHANK3 | c.1049G= (p.Ser350=) n.1633G= c.101G= (p.Ser34=) c.1406G= (p.Ser469=) c.102G= c.1445G= (p.Ser482=) c.1427G= (p.Ser476=) | |
22 | g.50697665G>T | CA515255132 | SHANK3 | c.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 |
22 | g.50697666C>A | CA515255134 | SHANK3 | c.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 |
22 | g.50697666C>G | CA515255136 | SHANK3 | c.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 |
22 | g.50697666C>T | CA515255135 | SHANK3 | c.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 |
22 | g.50697668del | CA2657598987 | SHANK3 | c.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 |
22 | g.50697667C>A | CA515255137 | SHANK3 | c.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 |
22 | g.50697667C>G | CA515255138 | SHANK3 | c.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 |
22 | g.50697667C>T | CA515255139 | SHANK3 | c.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 |
22 | g.50697668C>A | CA515255140 | SHANK3 | c.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 |
22 | g.50697668C= | CA2410995400 | SHANK3 | c.1052C= (p.Pro351=) n.1636C= c.104C= (p.Pro35=) c.1409C= (p.Pro470=) c.105C= c.1448C= (p.Pro483=) c.1430C= (p.Pro477=) | |
22 | g.50697668C>G | CA515255141 | SHANK3 | c.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 |
22 | g.50697668C>T | CA515255142 | SHANK3 | c.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 |
22 | g.50697669del | CA2657598999 | SHANK3 | c.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 |
22 | g.50697669G>A | CA515255145 | SHANK3 | c.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 |
22 | g.50697669G>C | CA515255144 | SHANK3 | c.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 |
22 | g.50697669G= | CA2410995401 | SHANK3 | c.1053G= (p.Pro351=) n.1637G= c.105G= (p.Pro35=) c.1410G= (p.Pro470=) c.106G= c.1449G= (p.Pro483=) c.1431G= (p.Pro477=) | |
22 | g.50697669G>T | CA515255143 | SHANK3 | c.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 |
22 | g.50697670del | CA2657599001 | SHANK3 | c.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 |
22 | g.50697670C>A | CA515255146 | SHANK3 | c.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 |
22 | g.50697670C>G | CA515255147 | SHANK3 | c.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 |
22 | g.50697670C>T | CA515255148 | SHANK3 | c.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 |
22 | g.50697670_50697671del | CA2657599002 | SHANK3 | c.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 |
22 | g.50697671del | CA2657599003 | SHANK3 | c.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 |
22 | g.50697671A= | CA2410995402 | SHANK3 | c.1055A= (p.Gln352=) n.1639A= c.107A= (p.Gln36=) c.1412A= (p.Gln471=) c.108A= c.1451A= (p.Gln484=) c.1433A= (p.Gln478=) | |
22 | g.50697671A>C | CA515255149 | SHANK3 | c.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 |
22 | g.50697671A>G | CA515255150 | SHANK3 | c.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 |
22 | g.50697671A>T | CA515255151 | SHANK3 | c.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 |
22 | g.50697671_50697672del | CA2819325451 | SHANK3 | c.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) | |
22 | g.50697672G>A | CA515255152 | SHANK3 | c.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 |
22 | g.50697672G>C | CA515255154 | SHANK3 | c.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) | |
22 | g.50697672G>T | CA515255153 | SHANK3 | c.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 |
22 | g.50697674del | CA2657599004 | SHANK3 | c.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 |
22 | g.50697673G>A | CA515255155 | SHANK3 | c.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 |
22 | g.50697673G>C | CA515255156 | SHANK3 | c.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 |
22 | g.50697673G= | CA2410995403 | SHANK3 | c.1057G= (p.Gly353=) n.1641G= c.109G= (p.Gly37=) c.1414G= (p.Gly472=) c.110G= c.1453G= (p.Gly485=) c.1435G= (p.Gly479=) | |
22 | g.50697673G>T | CA515255157 | SHANK3 | c.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 |
22 | g.50697674G>A | CA515255158 | SHANK3 | c.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 |
22 | g.50697674G>C | CA515255159 | SHANK3 | c.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 |
22 | g.50697674G= | CA2410995404 | SHANK3 | c.1058G= (p.Gly353=) n.1642G= c.110G= (p.Gly37=) c.1415G= (p.Gly472=) c.111G= c.1454G= (p.Gly485=) c.1436G= (p.Gly479=) | |
22 | g.50697674G>T | CA515255160 | SHANK3 | c.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 |
22 | g.50697675_50697676del | CA2657599007 | SHANK3 | c.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 |
22 | g.50697675del | CA2819325452 | SHANK3 | c.1059del (p.Glu354LysfsTer12) n.1643del c.111del (p.Glu38LysfsTer12) c.1416del (p.Glu473LysfsTer12) c.112del c.1455del (p.Glu486LysfsTer12) c.1437del (p.Glu480LysfsTer12) | |
22 | g.50697675T>A | CA515255161 | SHANK3 | c.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 |
22 | g.50697675T>C | CA515255162 | SHANK3 | c.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 |
22 | g.50697675T>G | CA515255163 | SHANK3 | c.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=) | |
22 | g.50697676G>A | CA515255164 | SHANK3 | c.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 |
22 | g.50697676G>C | CA515255165 | SHANK3 | c.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 |
22 | g.50697676G>T | CA515255166 | SHANK3 | c.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 |
22 | g.50697677A= | CA2410995405 | SHANK3 | c.1061A= (p.Glu354=) n.1645A= c.113A= (p.Glu38=) c.1418A= (p.Glu473=) c.114A= c.1457A= (p.Glu486=) c.1439A= (p.Glu480=) | |
22 | g.50697677A>C | CA515255167 | SHANK3 | c.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) | |
22 | g.50697677A>G | CA515255169 | SHANK3 | c.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 |
22 | g.50697677A>T | CA515255168 | SHANK3 | c.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 |
22 | g.50697678del | CA2657599017 | SHANK3 | c.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 |
22 | g.50697678A>C | CA515255170 | SHANK3 | c.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 |
22 | g.50697678A>G | CA515255171 | SHANK3 | c.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 |
22 | g.50697678A>T | CA515255172 | SHANK3 | c.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 |
22 | g.50697679G>A | CA515255173 | SHANK3 | c.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 |
22 | g.50697679G>C | CA515255174 | SHANK3 | c.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) | |
22 | g.50697679G= | CA2410995406 | SHANK3 | c.1063G= (p.Gly355=) n.1647G= c.115G= (p.Gly39=) c.1420G= (p.Gly474=) c.116G= c.1459G= (p.Gly487=) c.1441G= (p.Gly481=) | |
22 | g.50697679G>T | CA515255175 | SHANK3 | c.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 |
22 | g.50697680G>A | CA515255176 | SHANK3 | c.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 |
22 | g.50697680G>C | CA515255177 | SHANK3 | c.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 |
22 | g.50697680G>T | CA515255178 | SHANK3 | c.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 |
22 | g.50697681C>A | CA515255179 | SHANK3 | c.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 |
22 | g.50697681C>G | CA515255180 | SHANK3 | c.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 |
22 | g.50697681C>T | CA515255181 | SHANK3 | c.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 |
22 | g.50697682G>A | CA515255184 | SHANK3 | c.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 |
22 | g.50697682G>C | CA515255183 | SHANK3 | c.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 |
22 | g.50697682G= | CA2410995407 | SHANK3 | c.1066G= (p.Glu356=) n.1650G= c.118G= (p.Glu40=) c.1423G= (p.Glu475=) c.119G= c.1462G= (p.Glu488=) c.1444G= (p.Glu482=) | |
22 | g.50697682G>T | CA515255182 | SHANK3 | c.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 |
22 | g.50697683A>C | CA515255185 | SHANK3 | c.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) | |
22 | g.50697683A>G | CA515255186 | SHANK3 | c.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 |
22 | g.50697683A>T | CA515255187 | SHANK3 | c.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 |
22 | g.50697684G>A | CA515255188 | SHANK3 | c.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 |
22 | g.50697684G>C | CA515255189 | SHANK3 | c.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 |
22 | g.50697684G>T | CA515255190 | SHANK3 | c.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 |
22 | g.50697685A>C | CA515255191 | SHANK3 | c.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 |
22 | g.50697685A>G | CA515255192 | SHANK3 | c.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 |
22 | g.50697685A>T | CA515255193 | SHANK3 | c.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) | |
22 | g.50697686T>A | CA515255194 | SHANK3 | c.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 |
22 | g.50697686T>C | CA515255195 | SHANK3 | c.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 |
22 | g.50697686T>G | CA515255196 | SHANK3 | c.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) | |
22 | g.50697687C>A | CA515255197 | SHANK3 | c.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 |
22 | g.50697687C= | CA2410995408 | SHANK3 | c.1071C= (p.Ile357=) n.1655C= c.123C= (p.Ile41=) c.1428C= (p.Ile476=) c.124C= c.1467C= (p.Ile489=) c.1449C= (p.Ile483=) | |
22 | g.50697687C>G | CA515255199 | SHANK3 | c.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 |
22 | g.50697687C>T | CA515255198 | SHANK3 | c.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 |
22 | g.50697689del | CA2657599040 | SHANK3 | c.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 |
22 | g.50697688C>A | CA515255200 | SHANK3 | c.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 |
22 | g.50697688C>G | CA515255202 | SHANK3 | c.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 |
22 | g.50697688C>T | CA515255201 | SHANK3 | c.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 |
22 | g.50697689C>A | CA515255203 | SHANK3 | c.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 |
22 | g.50697689C= | CA2410995409 | SHANK3 | c.1073C= (p.Pro358=) n.1657C= c.125C= (p.Pro42=) c.1430C= (p.Pro477=) c.126C= c.1469C= (p.Pro490=) c.1451C= (p.Pro484=) | |
22 | g.50697689C>G | CA515255204 | SHANK3 | c.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 |
22 | g.50697689C>T | CA515255205 | SHANK3 | c.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 |
22 | g.50697690del | CA2657599055 | SHANK3 | c.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 |
22 | g.50697690G>A | CA515255206 | SHANK3 | c.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 |
22 | g.50697690G>C | CA515255207 | SHANK3 | c.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 |
22 | g.50697690G>T | CA515255208 | SHANK3 | c.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 |
22 | g.50697691C>A | CA515255209 | SHANK3 | c.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 |
22 | g.50697691C= | CA2410995410 | SHANK3 | c.1075C= (p.Leu359=) n.1659C= c.127C= (p.Leu43=) c.1432C= (p.Leu478=) c.128C= c.1471C= (p.Leu491=) c.1453C= (p.Leu485=) | |
22 | g.50697691C>G | CA515255210 | SHANK3 | c.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 |
22 | g.50697691C>T | CA515255211 | SHANK3 | c.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 |
22 | g.50697692T>A | CA515255212 | SHANK3 | c.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 |
22 | g.50697692T>C | CA515255213 | SHANK3 | c.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 |
22 | g.50697692T>G | CA515255214 | SHANK3 | c.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) | |
22 | g.50697693G>A | CA515255215 | SHANK3 | c.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 |
22 | g.50697693G>C | CA515255217 | SHANK3 | c.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 |
22 | g.50697693G= | CA2410995411 | SHANK3 | c.1077G= (p.Leu359=) n.1661G= c.129G= (p.Leu43=) c.1434G= (p.Leu478=) c.130G= c.1473G= (p.Leu491=) c.1455G= (p.Leu485=) | |
22 | g.50697693G>T | CA515255216 | SHANK3 | c.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 |
22 | g.50697694C>A | CA515255218 | SHANK3 | c.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 |
22 | g.50697694C>G | CA515255219 | SHANK3 | c.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 |
22 | g.50697694C>T | CA515255220 | SHANK3 | c.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 |
22 | g.50697695A>C | CA515255221 | SHANK3 | c.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) | |
22 | g.50697695A>G | CA515255222 | SHANK3 | c.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 |
22 | g.50697695A>T | CA515255223 | SHANK3 | c.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) | |
22 | g.50697696C>A | CA515255224 | SHANK3 | c.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 |
22 | g.50697696C= | CA2410995412 | SHANK3 | c.1080C= (p.His360=) n.1664C= c.132C= (p.His44=) c.1437C= (p.His479=) c.133C= c.1476C= (p.His492=) c.1458C= (p.His486=) | |
22 | g.50697696C>G | CA515255225 | SHANK3 | c.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 |
22 | g.50697696C>T | CA325553962 | SHANK3 | c.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 |
22 | g.50697697C>A | CA515255228 | SHANK3 | c.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 |
22 | g.50697697C>G | CA515255227 | SHANK3 | c.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 |
22 | g.50697697C>T | CA515255226 | SHANK3 | c.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 |
22 | g.50697698del | CA2819325453 | SHANK3 | c.1082del (p.Arg361ProfsTer5) n.1666del c.134del (p.Arg45ProfsTer5) c.1439del (p.Arg480ProfsTer5) c.135del c.1478del (p.Arg493ProfsTer5) c.1460del (p.Arg487ProfsTer5) | |
22 | g.50697698G>A | CA515255229 | SHANK3 | c.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 |
22 | g.50697698G>C | CA515255230 | SHANK3 | c.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) | |
22 | g.50697698G= | CA2410995413 | SHANK3 | c.1082G= (p.Arg361=) n.1666G= c.134G= (p.Arg45=) c.1439G= (p.Arg480=) c.135G= c.1478G= (p.Arg493=) c.1460G= (p.Arg487=) | |
22 | g.50697698G>T | CA515255231 | SHANK3 | c.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 |
22 | g.50697699C>A | CA515255232 | SHANK3 | c.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 |
22 | g.50697699C= | CA2410995414 | SHANK3 | c.1083C= (p.Arg361=) n.1667C= c.135C= (p.Arg45=) c.1440C= (p.Arg480=) c.136C= c.1479C= (p.Arg493=) c.1461C= (p.Arg487=) | |
22 | g.50697699C>G | CA515255233 | SHANK3 | c.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=) | |
22 | g.50697699C>T | CA515255234 | SHANK3 | c.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 |
22 | g.50697700G>A | CA515255235 | SHANK3 | c.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 |
22 | g.50697700G>C | CA515255236 | SHANK3 | c.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 |
22 | g.50697700G= | CA2410995415 | SHANK3 | c.1084G= (p.Gly362=) n.1668G= c.136G= (p.Gly46=) c.1441G= (p.Gly481=) c.137G= c.1480G= (p.Gly494=) c.1462G= (p.Gly488=) | |
22 | g.50697700G>T | CA515255237 | SHANK3 | c.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 |
22 | g.50697701G>A | CA515255238 | SHANK3 | c.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 |
22 | g.50697701G>C | CA515255239 | SHANK3 | c.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) | |
22 | g.50697701G>T | CA515255240 | SHANK3 | c.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 |
22 | g.50697702del | CA2657599089 | SHANK3 | c.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 |
22 | g.50697702C>A | CA515255243 | SHANK3 | c.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 |
22 | g.50697702C= | CA2410995416 | SHANK3 | c.1086C= (p.Gly362=) n.1670C= c.138C= (p.Gly46=) c.1443C= (p.Gly481=) c.139C= c.1482C= (p.Gly494=) c.1464C= (p.Gly488=) | |
22 | g.50697702C>G | CA515255241 | SHANK3 | c.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 |
22 | g.50697702C>T | CA515255242 | SHANK3 | c.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 |
22 | g.50697703G>A | CA515255244 | SHANK3 | c.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 |
22 | g.50697703G>C | CA515255245 | SHANK3 | c.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) | |
22 | g.50697703G>T | CA515255246 | SHANK3 | c.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 |
22 | g.50697704A>C | CA515255247 | SHANK3 | c.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) | |
22 | g.50697704A>G | CA515255248 | SHANK3 | c.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 |
22 | g.50697704A>T | CA515255249 | SHANK3 | c.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 |
22 | g.50697705G>A | CA515255250 | SHANK3 | c.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 |
22 | g.50697705G>C | CA515255251 | SHANK3 | c.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 |
22 | g.50697705G>T | CA515255252 | SHANK3 | c.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 |
22 | g.50697706G>A | CA515255253 | SHANK3 | c.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 |
22 | g.50697706G>C | CA515255254 | SHANK3 | c.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 |
22 | g.50697706G= | CA2410995417 | SHANK3 | c.1090G= (p.Ala364=) n.1674G= c.142G= (p.Ala48=) c.1447G= (p.Ala483=) c.143G= c.1486G= (p.Ala496=) c.1468G= (p.Ala490=) | |
22 | g.50697706G>T | CA515255255 | SHANK3 | c.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 |
22 | g.50697707C>A | CA515255257 | SHANK3 | c.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 |
22 | g.50697707C>G | CA515255258 | SHANK3 | c.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 |
22 | g.50697707C>T | CA515255256 | SHANK3 | c.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 |
22 | g.50697708C>A | CA515255260 | SHANK3 | c.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 |
22 | g.50697708C= | CA2410995418 | SHANK3 | c.1092C= (p.Ala364=) n.1676C= c.144C= (p.Ala48=) c.1449C= (p.Ala483=) c.145C= c.1488C= (p.Ala496=) c.1470C= (p.Ala490=) | |
22 | g.50697708C>G | CA515255259 | SHANK3 | c.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 |
22 | g.50697708C>T | CA515255261 | SHANK3 | c.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 |
22 | g.50697709G>A | CA515255262 | SHANK3 | c.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 |
22 | g.50697709G>C | CA515255263 | SHANK3 | c.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) | |
22 | g.50697709G= | CA2410995419 | SHANK3 | c.1093G= (p.Val365=) n.1677G= c.145G= (p.Val49=) c.1450G= (p.Val484=) c.146G= c.1489G= (p.Val497=) c.1471G= (p.Val491=) | |
22 | g.50697709G>T | CA515255264 | SHANK3 | c.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 |
22 | g.50697710_50697711del | CA2577768313 | SHANK3 | c.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 |
22 | g.50697710T>A | CA515255265 | SHANK3 | c.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 |
22 | g.50697710T>C | CA515255266 | SHANK3 | c.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 |
22 | g.50697710T>G | CA515255267 | SHANK3 | c.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) | |
22 | g.50697711G>A | CA515255268 | SHANK3 | c.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 |
22 | g.50697711G>C | CA515255269 | SHANK3 | c.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=) | |
22 | g.50697711G= | CA2410995421 | SHANK3 | c.1095G= (p.Val365=) n.1679G= c.147G= (p.Val49=) c.1452G= (p.Val484=) c.148G= c.1491G= (p.Val497=) c.1473G= (p.Val491=) | |
22 | g.50697711G>T | CA515255270 | SHANK3 | c.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 |
22 | g.50697711_50697712delinsGA | CA2410995420 | SHANK3 | c.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=) | |
22 | g.50697712A>C | CA515255271 | SHANK3 | c.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 |
22 | g.50697712A>G | CA515255272 | SHANK3 | c.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 |
22 | g.50697712A>T | CA515255273 | SHANK3 | c.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 |
22 | g.50697713del | CA16621797 | SHANK3 | c.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 |
22 | g.50697713A>C | CA515255276 | SHANK3 | c.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 |
22 | g.50697713A>G | CA515255275 | SHANK3 | c.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 |
22 | g.50697713A>T | CA515255274 | SHANK3 | c.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 |
22 | g.50697714G>A | CA515255277 | SHANK3 | c.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 |
22 | g.50697714G>C | CA515255278 | SHANK3 | c.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) | |
22 | g.50697714G= | CA2410995422 | SHANK3 | c.1098G= (p.Lys366=) n.1682G= c.150G= (p.Lys50=) c.1455G= (p.Lys485=) c.151G= c.1494G= (p.Lys498=) c.1476G= (p.Lys492=) | |
22 | g.50697714G>T | CA515255279 | SHANK3 | c.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 |