Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70473266T>ACA381676282SHANK2c.3386A>T (p.Asn1129Ile)
c.931A>T (n.931A>T)
c.5153A>T (p.Asn1718Ile)
c.2662A>T
c.4016A>T (p.Asn1339Ile)
c.3443A>T (p.Asn1148Ile)
c.3389A>T (p.Asn1130Ile)
c.*157A>T (n.*157A>T)
c.3365A>T (p.Asn1122Ile)
c.929A>T
c.2990A>T (p.Asn997Ile)
n.1905A>T
n.1007A>T
c.5123A>T (p.Asn1708Ile)
c.5165A>T (p.Asn1722Ile)
c.5144A>T (p.Asn1715Ile)
c.5138A>T (p.Asn1713Ile)
c.5117A>T (p.Asn1706Ile)
c.4028A>T (p.Asn1343Ile)
c.5126A>T (p.Asn1709Ile)
n.1008A>T
11g.70473266T>CCA381676283SHANK2c.3386A>G (p.Asn1129Ser)
c.931A>G (n.931A>G)
c.5153A>G (p.Asn1718Ser)
c.2662A>G
c.4016A>G (p.Asn1339Ser)
c.3443A>G (p.Asn1148Ser)
c.3389A>G (p.Asn1130Ser)
c.*157A>G (n.*157A>G)
c.3365A>G (p.Asn1122Ser)
c.929A>G
c.2990A>G (p.Asn997Ser)
n.1905A>G
n.1007A>G
c.5123A>G (p.Asn1708Ser)
c.5165A>G (p.Asn1722Ser)
c.5144A>G (p.Asn1715Ser)
c.5138A>G (p.Asn1713Ser)
c.5117A>G (p.Asn1706Ser)
c.4028A>G (p.Asn1343Ser)
c.5126A>G (p.Asn1709Ser)
n.1008A>G
11g.70473266T>GCA381676281SHANK2c.3386A>C (p.Asn1129Thr)
c.931A>C (n.931A>C)
c.5153A>C (p.Asn1718Thr)
c.2662A>C
c.4016A>C (p.Asn1339Thr)
c.3443A>C (p.Asn1148Thr)
c.3389A>C (p.Asn1130Thr)
c.*157A>C (n.*157A>C)
c.3365A>C (p.Asn1122Thr)
c.929A>C
c.2990A>C (p.Asn997Thr)
n.1905A>C
n.1007A>C
c.5123A>C (p.Asn1708Thr)
c.5165A>C (p.Asn1722Thr)
c.5144A>C (p.Asn1715Thr)
c.5138A>C (p.Asn1713Thr)
c.5117A>C (p.Asn1706Thr)
c.4028A>C (p.Asn1343Thr)
c.5126A>C (p.Asn1709Thr)
n.1008A>C
11g.70473267T>ACA381676284SHANK2c.3385A>T (p.Asn1129Tyr)
c.930A>T (n.930A>T)
c.5152A>T (p.Asn1718Tyr)
c.2661A>T
c.4015A>T (p.Asn1339Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3388A>T (p.Asn1130Tyr)
c.*156A>T (n.*156A>T)
c.3364A>T (p.Asn1122Tyr)
c.928A>T
c.2989A>T (p.Asn997Tyr)
n.1904A>T
n.1006A>T
c.5122A>T (p.Asn1708Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5143A>T (p.Asn1715Tyr)
c.5137A>T (p.Asn1713Tyr)
c.5116A>T (p.Asn1706Tyr)
c.4027A>T (p.Asn1343Tyr)
c.5125A>T (p.Asn1709Tyr)
n.1007A>T
11g.70473267T>CCA381676285SHANK2c.3385A>G (p.Asn1129Asp)
c.930A>G (n.930A>G)
c.5152A>G (p.Asn1718Asp)
c.2661A>G
c.4015A>G (p.Asn1339Asp)
c.3442A>G (p.Asn1148Asp)
c.3388A>G (p.Asn1130Asp)
c.*156A>G (n.*156A>G)
c.3364A>G (p.Asn1122Asp)
c.928A>G
c.2989A>G (p.Asn997Asp)
n.1904A>G
n.1006A>G
c.5122A>G (p.Asn1708Asp)
c.5164A>G (p.Asn1722Asp)
c.5143A>G (p.Asn1715Asp)
c.5137A>G (p.Asn1713Asp)
c.5116A>G (p.Asn1706Asp)
c.4027A>G (p.Asn1343Asp)
c.5125A>G (p.Asn1709Asp)
n.1007A>G
11g.70473267T>GCA381676286SHANK2c.3385A>C (p.Asn1129His)
c.930A>C (n.930A>C)
c.5152A>C (p.Asn1718His)
c.2661A>C
c.4015A>C (p.Asn1339His)
c.3442A>C (p.Asn1148His)
c.3388A>C (p.Asn1130His)
c.*156A>C (n.*156A>C)
c.3364A>C (p.Asn1122His)
c.928A>C
c.2989A>C (p.Asn997His)
n.1904A>C
n.1006A>C
c.5122A>C (p.Asn1708His)
c.5164A>C (p.Asn1722His)
c.5143A>C (p.Asn1715His)
c.5137A>C (p.Asn1713His)
c.5116A>C (p.Asn1706His)
c.4027A>C (p.Asn1343His)
c.5125A>C (p.Asn1709His)
n.1007A>C
11g.70473268C>ACA381676287SHANK2c.3384G>T (p.Met1128Ile)
c.929G>T (n.929G>T)
c.5151G>T (p.Met1717Ile)
c.2660G>T
c.4014G>T (p.Met1338Ile)
c.3441G>T (p.Met1147Ile)
c.3387G>T (p.Met1129Ile)
c.*155G>T (n.*155G>T)
c.3363G>T (p.Met1121Ile)
c.927G>T
c.2988G>T (p.Met996Ile)
n.1903G>T
n.1005G>T
c.5121G>T (p.Met1707Ile)
c.5163G>T (p.Met1721Ile)
c.5142G>T (p.Met1714Ile)
c.5136G>T (p.Met1712Ile)
c.5115G>T (p.Met1705Ile)
c.4026G>T (p.Met1342Ile)
c.5124G>T (p.Met1708Ile)
n.1006G>T
11g.70473268C=CA1981067975SHANK2c.3384G= (p.Met1128=)
c.929G= (n.929G=)
c.5151G= (p.Met1717=)
c.2660G=
c.4014G= (p.Met1338=)
c.3441G= (p.Met1147=)
c.3387G= (p.Met1129=)
c.*155G= (n.*155G=)
c.3363G= (p.Met1121=)
c.927G=
c.2988G= (p.Met996=)
n.1903G=
n.1005G=
c.5121G= (p.Met1707=)
c.5163G= (p.Met1721=)
c.5142G= (p.Met1714=)
c.5136G= (p.Met1712=)
c.5115G= (p.Met1705=)
c.4026G= (p.Met1342=)
c.5124G= (p.Met1708=)
n.1006G=
11g.70473268C>GCA6160760SHANK2c.3384G>C (p.Met1128Ile)
c.929G>C (n.929G>C)
c.5151G>C (p.Met1717Ile)
c.2660G>C
c.4014G>C (p.Met1338Ile)
c.3441G>C (p.Met1147Ile)
c.3387G>C (p.Met1129Ile)
c.*155G>C (n.*155G>C)
c.3363G>C (p.Met1121Ile)
c.927G>C
c.2988G>C (p.Met996Ile)
n.1903G>C
n.1005G>C
c.5121G>C (p.Met1707Ile)
c.5163G>C (p.Met1721Ile)
c.5142G>C (p.Met1714Ile)
c.5136G>C (p.Met1712Ile)
c.5115G>C (p.Met1705Ile)
c.4026G>C (p.Met1342Ile)
c.5124G>C (p.Met1708Ile)
n.1006G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473268C>TCA214637SHANK2c.3384G>A (p.Met1128Ile)
c.929G>A (n.929G>A)
c.5151G>A (p.Met1717Ile)
c.2660G>A
c.4014G>A (p.Met1338Ile)
c.3441G>A (p.Met1147Ile)
c.3387G>A (p.Met1129Ile)
c.*155G>A (n.*155G>A)
c.3363G>A (p.Met1121Ile)
c.927G>A
c.2988G>A (p.Met996Ile)
n.1903G>A
n.1005G>A
c.5121G>A (p.Met1707Ile)
c.5163G>A (p.Met1721Ile)
c.5142G>A (p.Met1714Ile)
c.5136G>A (p.Met1712Ile)
c.5115G>A (p.Met1705Ile)
c.4026G>A (p.Met1342Ile)
c.5124G>A (p.Met1708Ile)
n.1006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473269A>CCA381676290SHANK2c.3383T>G (p.Met1128Arg)
c.928T>G (n.928T>G)
c.5150T>G (p.Met1717Arg)
c.2659T>G
c.4013T>G (p.Met1338Arg)
c.3440T>G (p.Met1147Arg)
c.3386T>G (p.Met1129Arg)
c.*154T>G (n.*154T>G)
c.3362T>G (p.Met1121Arg)
c.926T>G
c.2987T>G (p.Met996Arg)
n.1902T>G
n.1004T>G
c.5120T>G (p.Met1707Arg)
c.5162T>G (p.Met1721Arg)
c.5141T>G (p.Met1714Arg)
c.5135T>G (p.Met1712Arg)
c.5114T>G (p.Met1705Arg)
c.4025T>G (p.Met1342Arg)
c.5123T>G (p.Met1708Arg)
n.1005T>G
11g.70473269A>GCA381676288SHANK2c.3383T>C (p.Met1128Thr)
c.928T>C (n.928T>C)
c.5150T>C (p.Met1717Thr)
c.2659T>C
c.4013T>C (p.Met1338Thr)
c.3440T>C (p.Met1147Thr)
c.3386T>C (p.Met1129Thr)
c.*154T>C (n.*154T>C)
c.3362T>C (p.Met1121Thr)
c.926T>C
c.2987T>C (p.Met996Thr)
n.1902T>C
n.1004T>C
c.5120T>C (p.Met1707Thr)
c.5162T>C (p.Met1721Thr)
c.5141T>C (p.Met1714Thr)
c.5135T>C (p.Met1712Thr)
c.5114T>C (p.Met1705Thr)
c.4025T>C (p.Met1342Thr)
c.5123T>C (p.Met1708Thr)
n.1005T>C
11g.70473269A>TCA381676289SHANK2c.3383T>A (p.Met1128Lys)
c.928T>A (n.928T>A)
c.5150T>A (p.Met1717Lys)
c.2659T>A
c.4013T>A (p.Met1338Lys)
c.3440T>A (p.Met1147Lys)
c.3386T>A (p.Met1129Lys)
c.*154T>A (n.*154T>A)
c.3362T>A (p.Met1121Lys)
c.926T>A
c.2987T>A (p.Met996Lys)
n.1902T>A
n.1004T>A
c.5120T>A (p.Met1707Lys)
c.5162T>A (p.Met1721Lys)
c.5141T>A (p.Met1714Lys)
c.5135T>A (p.Met1712Lys)
c.5114T>A (p.Met1705Lys)
c.4025T>A (p.Met1342Lys)
c.5123T>A (p.Met1708Lys)
n.1005T>A
 gnomAD v4
11g.70473270T>ACA381676291SHANK2c.3382A>T (p.Met1128Leu)
c.927A>T (n.927A>T)
c.5149A>T (p.Met1717Leu)
c.2658A>T
c.4012A>T (p.Met1338Leu)
c.3439A>T (p.Met1147Leu)
c.3385A>T (p.Met1129Leu)
c.*153A>T (n.*153A>T)
c.3361A>T (p.Met1121Leu)
c.925A>T
c.2986A>T (p.Met996Leu)
n.1901A>T
n.1003A>T
c.5119A>T (p.Met1707Leu)
c.5161A>T (p.Met1721Leu)
c.5140A>T (p.Met1714Leu)
c.5134A>T (p.Met1712Leu)
c.5113A>T (p.Met1705Leu)
c.4024A>T (p.Met1342Leu)
c.5122A>T (p.Met1708Leu)
n.1004A>T
11g.70473270T>CCA381676292SHANK2c.3382A>G (p.Met1128Val)
c.927A>G (n.927A>G)
c.5149A>G (p.Met1717Val)
c.2658A>G
c.4012A>G (p.Met1338Val)
c.3439A>G (p.Met1147Val)
c.3385A>G (p.Met1129Val)
c.*153A>G (n.*153A>G)
c.3361A>G (p.Met1121Val)
c.925A>G
c.2986A>G (p.Met996Val)
n.1901A>G
n.1003A>G
c.5119A>G (p.Met1707Val)
c.5161A>G (p.Met1721Val)
c.5140A>G (p.Met1714Val)
c.5134A>G (p.Met1712Val)
c.5113A>G (p.Met1705Val)
c.4024A>G (p.Met1342Val)
c.5122A>G (p.Met1708Val)
n.1004A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473270T>GCA381676293SHANK2c.3382A>C (p.Met1128Leu)
c.927A>C (n.927A>C)
c.5149A>C (p.Met1717Leu)
c.2658A>C
c.4012A>C (p.Met1338Leu)
c.3439A>C (p.Met1147Leu)
c.3385A>C (p.Met1129Leu)
c.*153A>C (n.*153A>C)
c.3361A>C (p.Met1121Leu)
c.925A>C
c.2986A>C (p.Met996Leu)
n.1901A>C
n.1003A>C
c.5119A>C (p.Met1707Leu)
c.5161A>C (p.Met1721Leu)
c.5140A>C (p.Met1714Leu)
c.5134A>C (p.Met1712Leu)
c.5113A>C (p.Met1705Leu)
c.4024A>C (p.Met1342Leu)
c.5122A>C (p.Met1708Leu)
n.1004A>C
11g.70473270T=CA1981067976SHANK2c.3382A= (p.Met1128=)
c.927A= (n.927A=)
c.5149A= (p.Met1717=)
c.2658A=
c.4012A= (p.Met1338=)
c.3439A= (p.Met1147=)
c.3385A= (p.Met1129=)
c.*153A= (n.*153A=)
c.3361A= (p.Met1121=)
c.925A=
c.2986A= (p.Met996=)
n.1901A=
n.1003A=
c.5119A= (p.Met1707=)
c.5161A= (p.Met1721=)
c.5140A= (p.Met1714=)
c.5134A= (p.Met1712=)
c.5113A= (p.Met1705=)
c.4024A= (p.Met1342=)
c.5122A= (p.Met1708=)
n.1004A=
11g.70473271C>ACA6160761SHANK2c.3381G>T (p.Glu1127Asp)
c.926G>T (n.926G>T)
c.5148G>T (p.Glu1716Asp)
c.2657G>T
c.4011G>T (p.Glu1337Asp)
c.3438G>T (p.Glu1146Asp)
c.3384G>T (p.Glu1128Asp)
c.*152G>T (n.*152G>T)
c.3360G>T (p.Glu1120Asp)
c.924G>T
c.2985G>T (p.Glu995Asp)
n.1900G>T
n.1002G>T
c.5118G>T (p.Glu1706Asp)
c.5160G>T (p.Glu1720Asp)
c.5139G>T (p.Glu1713Asp)
c.5133G>T (p.Glu1711Asp)
c.5112G>T (p.Glu1704Asp)
c.4023G>T (p.Glu1341Asp)
c.5121G>T (p.Glu1707Asp)
n.1003G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.70473271C=CA1981067977SHANK2c.3381G= (p.Glu1127=)
c.926G= (n.926G=)
c.5148G= (p.Glu1716=)
c.2657G=
c.4011G= (p.Glu1337=)
c.3438G= (p.Glu1146=)
c.3384G= (p.Glu1128=)
c.*152G= (n.*152G=)
c.3360G= (p.Glu1120=)
c.924G=
c.2985G= (p.Glu995=)
n.1900G=
n.1002G=
c.5118G= (p.Glu1706=)
c.5160G= (p.Glu1720=)
c.5139G= (p.Glu1713=)
c.5133G= (p.Glu1711=)
c.5112G= (p.Glu1704=)
c.4023G= (p.Glu1341=)
c.5121G= (p.Glu1707=)
n.1003G=
11g.70473271C>GCA381676294SHANK2c.3381G>C (p.Glu1127Asp)
c.926G>C (n.926G>C)
c.5148G>C (p.Glu1716Asp)
c.2657G>C
c.4011G>C (p.Glu1337Asp)
c.3438G>C (p.Glu1146Asp)
c.3384G>C (p.Glu1128Asp)
c.*152G>C (n.*152G>C)
c.3360G>C (p.Glu1120Asp)
c.924G>C
c.2985G>C (p.Glu995Asp)
n.1900G>C
n.1002G>C
c.5118G>C (p.Glu1706Asp)
c.5160G>C (p.Glu1720Asp)
c.5139G>C (p.Glu1713Asp)
c.5133G>C (p.Glu1711Asp)
c.5112G>C (p.Glu1704Asp)
c.4023G>C (p.Glu1341Asp)
c.5121G>C (p.Glu1707Asp)
n.1003G>C
11g.70473271C>TCA475470705SHANK2c.3381G>A (p.Glu1127=)
c.926G>A (n.926G>A)
c.5148G>A (p.Glu1716=)
c.2657G>A
c.4011G>A (p.Glu1337=)
c.3438G>A (p.Glu1146=)
c.3384G>A (p.Glu1128=)
c.*152G>A (n.*152G>A)
c.3360G>A (p.Glu1120=)
c.924G>A
c.2985G>A (p.Glu995=)
n.1900G>A
n.1002G>A
c.5118G>A (p.Glu1706=)
c.5160G>A (p.Glu1720=)
c.5139G>A (p.Glu1713=)
c.5133G>A (p.Glu1711=)
c.5112G>A (p.Glu1704=)
c.4023G>A (p.Glu1341=)
c.5121G>A (p.Glu1707=)
n.1003G>A
 dbSNP gnomAD v4
11g.70473272T>ACA381676295SHANK2c.3380A>T (p.Glu1127Val)
c.925A>T (n.925A>T)
c.5147A>T (p.Glu1716Val)
c.2656A>T
c.4010A>T (p.Glu1337Val)
c.3437A>T (p.Glu1146Val)
c.3383A>T (p.Glu1128Val)
c.*151A>T (n.*151A>T)
c.3359A>T (p.Glu1120Val)
c.923A>T
c.2984A>T (p.Glu995Val)
n.1899A>T
n.1001A>T
c.5117A>T (p.Glu1706Val)
c.5159A>T (p.Glu1720Val)
c.5138A>T (p.Glu1713Val)
c.5132A>T (p.Glu1711Val)
c.5111A>T (p.Glu1704Val)
c.4022A>T (p.Glu1341Val)
c.5120A>T (p.Glu1707Val)
n.1002A>T
11g.70473272T>CCA381676297SHANK2c.3380A>G (p.Glu1127Gly)
c.925A>G (n.925A>G)
c.5147A>G (p.Glu1716Gly)
c.2656A>G
c.4010A>G (p.Glu1337Gly)
c.3437A>G (p.Glu1146Gly)
c.3383A>G (p.Glu1128Gly)
c.*151A>G (n.*151A>G)
c.3359A>G (p.Glu1120Gly)
c.923A>G
c.2984A>G (p.Glu995Gly)
n.1899A>G
n.1001A>G
c.5117A>G (p.Glu1706Gly)
c.5159A>G (p.Glu1720Gly)
c.5138A>G (p.Glu1713Gly)
c.5132A>G (p.Glu1711Gly)
c.5111A>G (p.Glu1704Gly)
c.4022A>G (p.Glu1341Gly)
c.5120A>G (p.Glu1707Gly)
n.1002A>G
11g.70473272T>GCA381676296SHANK2c.3380A>C (p.Glu1127Ala)
c.925A>C (n.925A>C)
c.5147A>C (p.Glu1716Ala)
c.2656A>C
c.4010A>C (p.Glu1337Ala)
c.3437A>C (p.Glu1146Ala)
c.3383A>C (p.Glu1128Ala)
c.*151A>C (n.*151A>C)
c.3359A>C (p.Glu1120Ala)
c.923A>C
c.2984A>C (p.Glu995Ala)
n.1899A>C
n.1001A>C
c.5117A>C (p.Glu1706Ala)
c.5159A>C (p.Glu1720Ala)
c.5138A>C (p.Glu1713Ala)
c.5132A>C (p.Glu1711Ala)
c.5111A>C (p.Glu1704Ala)
c.4022A>C (p.Glu1341Ala)
c.5120A>C (p.Glu1707Ala)
n.1002A>C
11g.70473273C>ACA381676298SHANK2c.3379G>T (p.Glu1127Ter)
c.924G>T (n.924G>T)
c.5146G>T (p.Glu1716Ter)
c.2655G>T
c.4009G>T (p.Glu1337Ter)
c.3436G>T (p.Glu1146Ter)
c.3382G>T (p.Glu1128Ter)
c.*150G>T (n.*150G>T)
c.3358G>T (p.Glu1120Ter)
c.922G>T
c.2983G>T (p.Glu995Ter)
n.1898G>T
n.1000G>T
c.5116G>T (p.Glu1706Ter)
c.5158G>T (p.Glu1720Ter)
c.5137G>T (p.Glu1713Ter)
c.5131G>T (p.Glu1711Ter)
c.5110G>T (p.Glu1704Ter)
c.4021G>T (p.Glu1341Ter)
c.5119G>T (p.Glu1707Ter)
n.1001G>T
11g.70473273C>GCA381676299SHANK2c.3379G>C (p.Glu1127Gln)
c.924G>C (n.924G>C)
c.5146G>C (p.Glu1716Gln)
c.2655G>C
c.4009G>C (p.Glu1337Gln)
c.3436G>C (p.Glu1146Gln)
c.3382G>C (p.Glu1128Gln)
c.*150G>C (n.*150G>C)
c.3358G>C (p.Glu1120Gln)
c.922G>C
c.2983G>C (p.Glu995Gln)
n.1898G>C
n.1000G>C
c.5116G>C (p.Glu1706Gln)
c.5158G>C (p.Glu1720Gln)
c.5137G>C (p.Glu1713Gln)
c.5131G>C (p.Glu1711Gln)
c.5110G>C (p.Glu1704Gln)
c.4021G>C (p.Glu1341Gln)
c.5119G>C (p.Glu1707Gln)
n.1001G>C
 gnomAD v4
11g.70473273C>TCA381676300SHANK2c.3379G>A (p.Glu1127Lys)
c.924G>A (n.924G>A)
c.5146G>A (p.Glu1716Lys)
c.2655G>A
c.4009G>A (p.Glu1337Lys)
c.3436G>A (p.Glu1146Lys)
c.3382G>A (p.Glu1128Lys)
c.*150G>A (n.*150G>A)
c.3358G>A (p.Glu1120Lys)
c.922G>A
c.2983G>A (p.Glu995Lys)
n.1898G>A
n.1000G>A
c.5116G>A (p.Glu1706Lys)
c.5158G>A (p.Glu1720Lys)
c.5137G>A (p.Glu1713Lys)
c.5131G>A (p.Glu1711Lys)
c.5110G>A (p.Glu1704Lys)
c.4021G>A (p.Glu1341Lys)
c.5119G>A (p.Glu1707Lys)
n.1001G>A
11g.70473274T>ACA475470706SHANK2c.3378A>T (p.Thr1126=)
c.923A>T (n.923A>T)
c.5145A>T (p.Thr1715=)
c.2654A>T
c.4008A>T (p.Thr1336=)
c.3435A>T (p.Thr1145=)
c.3381A>T (p.Thr1127=)
c.*149A>T (n.*149A>T)
c.3357A>T (p.Thr1119=)
c.921A>T
c.2982A>T (p.Thr994=)
n.1897A>T
n.999A>T
c.5115A>T (p.Thr1705=)
c.5157A>T (p.Thr1719=)
c.5136A>T (p.Thr1712=)
c.5130A>T (p.Thr1710=)
c.5109A>T (p.Thr1703=)
c.4020A>T (p.Thr1340=)
c.5118A>T (p.Thr1706=)
n.1000A>T
11g.70473274T>CCA475470707SHANK2c.3378A>G (p.Thr1126=)
c.923A>G (n.923A>G)
c.5145A>G (p.Thr1715=)
c.2654A>G
c.4008A>G (p.Thr1336=)
c.3435A>G (p.Thr1145=)
c.3381A>G (p.Thr1127=)
c.*149A>G (n.*149A>G)
c.3357A>G (p.Thr1119=)
c.921A>G
c.2982A>G (p.Thr994=)
n.1897A>G
n.999A>G
c.5115A>G (p.Thr1705=)
c.5157A>G (p.Thr1719=)
c.5136A>G (p.Thr1712=)
c.5130A>G (p.Thr1710=)
c.5109A>G (p.Thr1703=)
c.4020A>G (p.Thr1340=)
c.5118A>G (p.Thr1706=)
n.1000A>G
11g.70473274T>GCA475470708SHANK2c.3378A>C (p.Thr1126=)
c.923A>C (n.923A>C)
c.5145A>C (p.Thr1715=)
c.2654A>C
c.4008A>C (p.Thr1336=)
c.3435A>C (p.Thr1145=)
c.3381A>C (p.Thr1127=)
c.*149A>C (n.*149A>C)
c.3357A>C (p.Thr1119=)
c.921A>C
c.2982A>C (p.Thr994=)
n.1897A>C
n.999A>C
c.5115A>C (p.Thr1705=)
c.5157A>C (p.Thr1719=)
c.5136A>C (p.Thr1712=)
c.5130A>C (p.Thr1710=)
c.5109A>C (p.Thr1703=)
c.4020A>C (p.Thr1340=)
c.5118A>C (p.Thr1706=)
n.1000A>C
11g.70473275G>ACA381676301SHANK2c.3377C>T (p.Thr1126Ile)
c.922C>T (n.922C>T)
c.5144C>T (p.Thr1715Ile)
c.2653C>T
c.4007C>T (p.Thr1336Ile)
c.3434C>T (p.Thr1145Ile)
c.3380C>T (p.Thr1127Ile)
c.*148C>T (n.*148C>T)
c.3356C>T (p.Thr1119Ile)
c.920C>T
c.2981C>T (p.Thr994Ile)
n.1896C>T
n.998C>T
c.5114C>T (p.Thr1705Ile)
c.5156C>T (p.Thr1719Ile)
c.5135C>T (p.Thr1712Ile)
c.5129C>T (p.Thr1710Ile)
c.5108C>T (p.Thr1703Ile)
c.4019C>T (p.Thr1340Ile)
c.5117C>T (p.Thr1706Ile)
n.999C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70473275G>CCA381676302SHANK2c.3377C>G (p.Thr1126Arg)
c.922C>G (n.922C>G)
c.5144C>G (p.Thr1715Arg)
c.2653C>G
c.4007C>G (p.Thr1336Arg)
c.3434C>G (p.Thr1145Arg)
c.3380C>G (p.Thr1127Arg)
c.*148C>G (n.*148C>G)
c.3356C>G (p.Thr1119Arg)
c.920C>G
c.2981C>G (p.Thr994Arg)
n.1896C>G
n.998C>G
c.5114C>G (p.Thr1705Arg)
c.5156C>G (p.Thr1719Arg)
c.5135C>G (p.Thr1712Arg)
c.5129C>G (p.Thr1710Arg)
c.5108C>G (p.Thr1703Arg)
c.4019C>G (p.Thr1340Arg)
c.5117C>G (p.Thr1706Arg)
n.999C>G
11g.70473275G=CA1981067978SHANK2c.3377C= (p.Thr1126=)
c.922C= (n.922C=)
c.5144C= (p.Thr1715=)
c.2653C=
c.4007C= (p.Thr1336=)
c.3434C= (p.Thr1145=)
c.3380C= (p.Thr1127=)
c.*148C= (n.*148C=)
c.3356C= (p.Thr1119=)
c.920C=
c.2981C= (p.Thr994=)
n.1896C=
n.998C=
c.5114C= (p.Thr1705=)
c.5156C= (p.Thr1719=)
c.5135C= (p.Thr1712=)
c.5129C= (p.Thr1710=)
c.5108C= (p.Thr1703=)
c.4019C= (p.Thr1340=)
c.5117C= (p.Thr1706=)
n.999C=
11g.70473275G>TCA381676303SHANK2c.3377C>A (p.Thr1126Lys)
c.922C>A (n.922C>A)
c.5144C>A (p.Thr1715Lys)
c.2653C>A
c.4007C>A (p.Thr1336Lys)
c.3434C>A (p.Thr1145Lys)
c.3380C>A (p.Thr1127Lys)
c.*148C>A (n.*148C>A)
c.3356C>A (p.Thr1119Lys)
c.920C>A
c.2981C>A (p.Thr994Lys)
n.1896C>A
n.998C>A
c.5114C>A (p.Thr1705Lys)
c.5156C>A (p.Thr1719Lys)
c.5135C>A (p.Thr1712Lys)
c.5129C>A (p.Thr1710Lys)
c.5108C>A (p.Thr1703Lys)
c.4019C>A (p.Thr1340Lys)
c.5117C>A (p.Thr1706Lys)
n.999C>A
11g.70473276T>ACA381676304SHANK2c.3376A>T (p.Thr1126Ser)
c.921A>T (n.921A>T)
c.5143A>T (p.Thr1715Ser)
c.2652A>T
c.4006A>T (p.Thr1336Ser)
c.3433A>T (p.Thr1145Ser)
c.3379A>T (p.Thr1127Ser)
c.*147A>T (n.*147A>T)
c.3355A>T (p.Thr1119Ser)
c.919A>T
c.2980A>T (p.Thr994Ser)
n.1895A>T
n.997A>T
c.5113A>T (p.Thr1705Ser)
c.5155A>T (p.Thr1719Ser)
c.5134A>T (p.Thr1712Ser)
c.5128A>T (p.Thr1710Ser)
c.5107A>T (p.Thr1703Ser)
c.4018A>T (p.Thr1340Ser)
c.5116A>T (p.Thr1706Ser)
n.998A>T
11g.70473276T>CCA381676305SHANK2c.3376A>G (p.Thr1126Ala)
c.921A>G (n.921A>G)
c.5143A>G (p.Thr1715Ala)
c.2652A>G
c.4006A>G (p.Thr1336Ala)
c.3433A>G (p.Thr1145Ala)
c.3379A>G (p.Thr1127Ala)
c.*147A>G (n.*147A>G)
c.3355A>G (p.Thr1119Ala)
c.919A>G
c.2980A>G (p.Thr994Ala)
n.1895A>G
n.997A>G
c.5113A>G (p.Thr1705Ala)
c.5155A>G (p.Thr1719Ala)
c.5134A>G (p.Thr1712Ala)
c.5128A>G (p.Thr1710Ala)
c.5107A>G (p.Thr1703Ala)
c.4018A>G (p.Thr1340Ala)
c.5116A>G (p.Thr1706Ala)
n.998A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473276T>GCA381676306SHANK2c.3376A>C (p.Thr1126Pro)
c.921A>C (n.921A>C)
c.5143A>C (p.Thr1715Pro)
c.2652A>C
c.4006A>C (p.Thr1336Pro)
c.3433A>C (p.Thr1145Pro)
c.3379A>C (p.Thr1127Pro)
c.*147A>C (n.*147A>C)
c.3355A>C (p.Thr1119Pro)
c.919A>C
c.2980A>C (p.Thr994Pro)
n.1895A>C
n.997A>C
c.5113A>C (p.Thr1705Pro)
c.5155A>C (p.Thr1719Pro)
c.5134A>C (p.Thr1712Pro)
c.5128A>C (p.Thr1710Pro)
c.5107A>C (p.Thr1703Pro)
c.4018A>C (p.Thr1340Pro)
c.5116A>C (p.Thr1706Pro)
n.998A>C
11g.70473276T=CA1981067979SHANK2c.3376A= (p.Thr1126=)
c.921A= (n.921A=)
c.5143A= (p.Thr1715=)
c.2652A=
c.4006A= (p.Thr1336=)
c.3433A= (p.Thr1145=)
c.3379A= (p.Thr1127=)
c.*147A= (n.*147A=)
c.3355A= (p.Thr1119=)
c.919A=
c.2980A= (p.Thr994=)
n.1895A=
n.997A=
c.5113A= (p.Thr1705=)
c.5155A= (p.Thr1719=)
c.5134A= (p.Thr1712=)
c.5128A= (p.Thr1710=)
c.5107A= (p.Thr1703=)
c.4018A= (p.Thr1340=)
c.5116A= (p.Thr1706=)
n.998A=
11g.70473277T>ACA475470709SHANK2c.3375A>T (p.Pro1125=)
c.920A>T (n.920A>T)
c.5142A>T (p.Pro1714=)
c.2651A>T
c.4005A>T (p.Pro1335=)
c.3432A>T (p.Pro1144=)
c.3378A>T (p.Pro1126=)
c.*146A>T (n.*146A>T)
c.3354A>T (p.Pro1118=)
c.918A>T
c.2979A>T (p.Pro993=)
n.1894A>T
n.996A>T
c.5112A>T (p.Pro1704=)
c.5154A>T (p.Pro1718=)
c.5133A>T (p.Pro1711=)
c.5127A>T (p.Pro1709=)
c.5106A>T (p.Pro1702=)
c.4017A>T (p.Pro1339=)
c.5115A>T (p.Pro1705=)
n.997A>T
11g.70473277T>CCA475470710SHANK2c.3375A>G (p.Pro1125=)
c.920A>G (n.920A>G)
c.5142A>G (p.Pro1714=)
c.2651A>G
c.4005A>G (p.Pro1335=)
c.3432A>G (p.Pro1144=)
c.3378A>G (p.Pro1126=)
c.*146A>G (n.*146A>G)
c.3354A>G (p.Pro1118=)
c.918A>G
c.2979A>G (p.Pro993=)
n.1894A>G
n.996A>G
c.5112A>G (p.Pro1704=)
c.5154A>G (p.Pro1718=)
c.5133A>G (p.Pro1711=)
c.5127A>G (p.Pro1709=)
c.5106A>G (p.Pro1702=)
c.4017A>G (p.Pro1339=)
c.5115A>G (p.Pro1705=)
n.997A>G
11g.70473277T>GCA475470711SHANK2c.3375A>C (p.Pro1125=)
c.920A>C (n.920A>C)
c.5142A>C (p.Pro1714=)
c.2651A>C
c.4005A>C (p.Pro1335=)
c.3432A>C (p.Pro1144=)
c.3378A>C (p.Pro1126=)
c.*146A>C (n.*146A>C)
c.3354A>C (p.Pro1118=)
c.918A>C
c.2979A>C (p.Pro993=)
n.1894A>C
n.996A>C
c.5112A>C (p.Pro1704=)
c.5154A>C (p.Pro1718=)
c.5133A>C (p.Pro1711=)
c.5127A>C (p.Pro1709=)
c.5106A>C (p.Pro1702=)
c.4017A>C (p.Pro1339=)
c.5115A>C (p.Pro1705=)
n.997A>C
11g.70473278G>ACA381676307SHANK2c.3374C>T (p.Pro1125Leu)
c.919C>T (n.919C>T)
c.5141C>T (p.Pro1714Leu)
c.2650C>T
c.4004C>T (p.Pro1335Leu)
c.3431C>T (p.Pro1144Leu)
c.3377C>T (p.Pro1126Leu)
c.*145C>T (n.*145C>T)
c.3353C>T (p.Pro1118Leu)
c.917C>T
c.2978C>T (p.Pro993Leu)
n.1893C>T
n.995C>T
c.5111C>T (p.Pro1704Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.5126C>T (p.Pro1709Leu)
c.5105C>T (p.Pro1702Leu)
c.4016C>T (p.Pro1339Leu)
c.5114C>T (p.Pro1705Leu)
n.996C>T
11g.70473278G>CCA381676308SHANK2c.3374C>G (p.Pro1125Arg)
c.919C>G (n.919C>G)
c.5141C>G (p.Pro1714Arg)
c.2650C>G
c.4004C>G (p.Pro1335Arg)
c.3431C>G (p.Pro1144Arg)
c.3377C>G (p.Pro1126Arg)
c.*145C>G (n.*145C>G)
c.3353C>G (p.Pro1118Arg)
c.917C>G
c.2978C>G (p.Pro993Arg)
n.1893C>G
n.995C>G
c.5111C>G (p.Pro1704Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.5126C>G (p.Pro1709Arg)
c.5105C>G (p.Pro1702Arg)
c.4016C>G (p.Pro1339Arg)
c.5114C>G (p.Pro1705Arg)
n.996C>G
11g.70473278G>TCA381676309SHANK2c.3374C>A (p.Pro1125Gln)
c.919C>A (n.919C>A)
c.5141C>A (p.Pro1714Gln)
c.2650C>A
c.4004C>A (p.Pro1335Gln)
c.3431C>A (p.Pro1144Gln)
c.3377C>A (p.Pro1126Gln)
c.*145C>A (n.*145C>A)
c.3353C>A (p.Pro1118Gln)
c.917C>A
c.2978C>A (p.Pro993Gln)
n.1893C>A
n.995C>A
c.5111C>A (p.Pro1704Gln)
c.5153C>A (p.Pro1718Gln)
c.5132C>A (p.Pro1711Gln)
c.5126C>A (p.Pro1709Gln)
c.5105C>A (p.Pro1702Gln)
c.4016C>A (p.Pro1339Gln)
c.5114C>A (p.Pro1705Gln)
n.996C>A
11g.70473279G>ACA381676311SHANK2c.3373C>T (p.Pro1125Ser)
c.918C>T (n.918C>T)
c.5140C>T (p.Pro1714Ser)
c.2649C>T
c.4003C>T (p.Pro1335Ser)
c.3430C>T (p.Pro1144Ser)
c.3376C>T (p.Pro1126Ser)
c.*144C>T (n.*144C>T)
c.3352C>T (p.Pro1118Ser)
c.916C>T
c.2977C>T (p.Pro993Ser)
n.1892C>T
n.994C>T
c.5110C>T (p.Pro1704Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.5125C>T (p.Pro1709Ser)
c.5104C>T (p.Pro1702Ser)
c.4015C>T (p.Pro1339Ser)
c.5113C>T (p.Pro1705Ser)
n.995C>T
11g.70473279G>CCA381676312SHANK2c.3373C>G (p.Pro1125Ala)
c.918C>G (n.918C>G)
c.5140C>G (p.Pro1714Ala)
c.2649C>G
c.4003C>G (p.Pro1335Ala)
c.3430C>G (p.Pro1144Ala)
c.3376C>G (p.Pro1126Ala)
c.*144C>G (n.*144C>G)
c.3352C>G (p.Pro1118Ala)
c.916C>G
c.2977C>G (p.Pro993Ala)
n.1892C>G
n.994C>G
c.5110C>G (p.Pro1704Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.5125C>G (p.Pro1709Ala)
c.5104C>G (p.Pro1702Ala)
c.4015C>G (p.Pro1339Ala)
c.5113C>G (p.Pro1705Ala)
n.995C>G
 gnomAD v4
11g.70473279G=CA1981067980SHANK2c.3373C= (p.Pro1125=)
c.918C= (n.918C=)
c.5140C= (p.Pro1714=)
c.2649C=
c.4003C= (p.Pro1335=)
c.3430C= (p.Pro1144=)
c.3376C= (p.Pro1126=)
c.*144C= (n.*144C=)
c.3352C= (p.Pro1118=)
c.916C=
c.2977C= (p.Pro993=)
n.1892C=
n.994C=
c.5110C= (p.Pro1704=)
c.5152C= (p.Pro1718=)
c.5131C= (p.Pro1711=)
c.5125C= (p.Pro1709=)
c.5104C= (p.Pro1702=)
c.4015C= (p.Pro1339=)
c.5113C= (p.Pro1705=)
n.995C=
11g.70473279G>TCA381676310SHANK2c.3373C>A (p.Pro1125Thr)
c.918C>A (n.918C>A)
c.5140C>A (p.Pro1714Thr)
c.2649C>A
c.4003C>A (p.Pro1335Thr)
c.3430C>A (p.Pro1144Thr)
c.3376C>A (p.Pro1126Thr)
c.*144C>A (n.*144C>A)
c.3352C>A (p.Pro1118Thr)
c.916C>A
c.2977C>A (p.Pro993Thr)
n.1892C>A
n.994C>A
c.5110C>A (p.Pro1704Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.5125C>A (p.Pro1709Thr)
c.5104C>A (p.Pro1702Thr)
c.4015C>A (p.Pro1339Thr)
c.5113C>A (p.Pro1705Thr)
n.995C>A
 dbSNP
11g.70473280C>ACA6160762SHANK2c.3372G>T (p.Ser1124=)
c.917G>T (n.917G>T)
c.5139G>T (p.Ser1713=)
c.2648G>T
c.4002G>T (p.Ser1334=)
c.3429G>T (p.Ser1143=)
c.3375G>T (p.Ser1125=)
c.*143G>T (n.*143G>T)
c.3351G>T (p.Ser1117=)
c.915G>T
c.2976G>T (p.Ser992=)
n.1891G>T
n.993G>T
c.5109G>T (p.Ser1703=)
c.5151G>T (p.Ser1717=)
c.5130G>T (p.Ser1710=)
c.5124G>T (p.Ser1708=)
c.5103G>T (p.Ser1701=)
c.4014G>T (p.Ser1338=)
c.5112G>T (p.Ser1704=)
n.994G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473280C=CA1981067981SHANK2c.3372G= (p.Ser1124=)
c.917G= (n.917G=)
c.5139G= (p.Ser1713=)
c.2648G=
c.4002G= (p.Ser1334=)
c.3429G= (p.Ser1143=)
c.3375G= (p.Ser1125=)
c.*143G= (n.*143G=)
c.3351G= (p.Ser1117=)
c.915G=
c.2976G= (p.Ser992=)
n.1891G=
n.993G=
c.5109G= (p.Ser1703=)
c.5151G= (p.Ser1717=)
c.5130G= (p.Ser1710=)
c.5124G= (p.Ser1708=)
c.5103G= (p.Ser1701=)
c.4014G= (p.Ser1338=)
c.5112G= (p.Ser1704=)
n.994G=
11g.70473280C>GCA475470712SHANK2c.3372G>C (p.Ser1124=)
c.917G>C (n.917G>C)
c.5139G>C (p.Ser1713=)
c.2648G>C
c.4002G>C (p.Ser1334=)
c.3429G>C (p.Ser1143=)
c.3375G>C (p.Ser1125=)
c.*143G>C (n.*143G>C)
c.3351G>C (p.Ser1117=)
c.915G>C
c.2976G>C (p.Ser992=)
n.1891G>C
n.993G>C
c.5109G>C (p.Ser1703=)
c.5151G>C (p.Ser1717=)
c.5130G>C (p.Ser1710=)
c.5124G>C (p.Ser1708=)
c.5103G>C (p.Ser1701=)
c.4014G>C (p.Ser1338=)
c.5112G>C (p.Ser1704=)
n.994G>C
11g.70473280C>TCA6160763SHANK2c.3372G>A (p.Ser1124=)
c.917G>A (n.917G>A)
c.5139G>A (p.Ser1713=)
c.2648G>A
c.4002G>A (p.Ser1334=)
c.3429G>A (p.Ser1143=)
c.3375G>A (p.Ser1125=)
c.*143G>A (n.*143G>A)
c.3351G>A (p.Ser1117=)
c.915G>A
c.2976G>A (p.Ser992=)
n.1891G>A
n.993G>A
c.5109G>A (p.Ser1703=)
c.5151G>A (p.Ser1717=)
c.5130G>A (p.Ser1710=)
c.5124G>A (p.Ser1708=)
c.5103G>A (p.Ser1701=)
c.4014G>A (p.Ser1338=)
c.5112G>A (p.Ser1704=)
n.994G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473281G>ACA6160764SHANK2c.3371C>T (p.Ser1124Leu)
c.916C>T (n.916C>T)
c.5138C>T (p.Ser1713Leu)
c.2647C>T
c.4001C>T (p.Ser1334Leu)
c.3428C>T (p.Ser1143Leu)
c.3374C>T (p.Ser1125Leu)
c.*142C>T (n.*142C>T)
c.3350C>T (p.Ser1117Leu)
c.914C>T
c.2975C>T (p.Ser992Leu)
n.1890C>T
n.992C>T
c.5108C>T (p.Ser1703Leu)
c.5150C>T (p.Ser1717Leu)
c.5129C>T (p.Ser1710Leu)
c.5123C>T (p.Ser1708Leu)
c.5102C>T (p.Ser1701Leu)
c.4013C>T (p.Ser1338Leu)
c.5111C>T (p.Ser1704Leu)
n.993C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473281G>CCA381676313SHANK2c.3371C>G (p.Ser1124Trp)
c.916C>G (n.916C>G)
c.5138C>G (p.Ser1713Trp)
c.2647C>G
c.4001C>G (p.Ser1334Trp)
c.3428C>G (p.Ser1143Trp)
c.3374C>G (p.Ser1125Trp)
c.*142C>G (n.*142C>G)
c.3350C>G (p.Ser1117Trp)
c.914C>G
c.2975C>G (p.Ser992Trp)
n.1890C>G
n.992C>G
c.5108C>G (p.Ser1703Trp)
c.5150C>G (p.Ser1717Trp)
c.5129C>G (p.Ser1710Trp)
c.5123C>G (p.Ser1708Trp)
c.5102C>G (p.Ser1701Trp)
c.4013C>G (p.Ser1338Trp)
c.5111C>G (p.Ser1704Trp)
n.993C>G
11g.70473281G=CA1981067982SHANK2c.3371C= (p.Ser1124=)
c.916C= (n.916C=)
c.5138C= (p.Ser1713=)
c.2647C=
c.4001C= (p.Ser1334=)
c.3428C= (p.Ser1143=)
c.3374C= (p.Ser1125=)
c.*142C= (n.*142C=)
c.3350C= (p.Ser1117=)
c.914C=
c.2975C= (p.Ser992=)
n.1890C=
n.992C=
c.5108C= (p.Ser1703=)
c.5150C= (p.Ser1717=)
c.5129C= (p.Ser1710=)
c.5123C= (p.Ser1708=)
c.5102C= (p.Ser1701=)
c.4013C= (p.Ser1338=)
c.5111C= (p.Ser1704=)
n.993C=
11g.70473281G>TCA381676314SHANK2c.3371C>A (p.Ser1124Ter)
c.916C>A (n.916C>A)
c.5138C>A (p.Ser1713Ter)
c.2647C>A
c.4001C>A (p.Ser1334Ter)
c.3428C>A (p.Ser1143Ter)
c.3374C>A (p.Ser1125Ter)
c.*142C>A (n.*142C>A)
c.3350C>A (p.Ser1117Ter)
c.914C>A
c.2975C>A (p.Ser992Ter)
n.1890C>A
n.992C>A
c.5108C>A (p.Ser1703Ter)
c.5150C>A (p.Ser1717Ter)
c.5129C>A (p.Ser1710Ter)
c.5123C>A (p.Ser1708Ter)
c.5102C>A (p.Ser1701Ter)
c.4013C>A (p.Ser1338Ter)
c.5111C>A (p.Ser1704Ter)
n.993C>A
11g.70473282A>CCA381676317SHANK2c.3370T>G (p.Ser1124Ala)
c.915T>G (n.915T>G)
c.5137T>G (p.Ser1713Ala)
c.2646T>G
c.4000T>G (p.Ser1334Ala)
c.3427T>G (p.Ser1143Ala)
c.3373T>G (p.Ser1125Ala)
c.*141T>G (n.*141T>G)
c.3349T>G (p.Ser1117Ala)
c.913T>G
c.2974T>G (p.Ser992Ala)
n.1889T>G
n.991T>G
c.5107T>G (p.Ser1703Ala)
c.5149T>G (p.Ser1717Ala)
c.5128T>G (p.Ser1710Ala)
c.5122T>G (p.Ser1708Ala)
c.5101T>G (p.Ser1701Ala)
c.4012T>G (p.Ser1338Ala)
c.5110T>G (p.Ser1704Ala)
n.992T>G
11g.70473282A>GCA381676316SHANK2c.3370T>C (p.Ser1124Pro)
c.915T>C (n.915T>C)
c.5137T>C (p.Ser1713Pro)
c.2646T>C
c.4000T>C (p.Ser1334Pro)
c.3427T>C (p.Ser1143Pro)
c.3373T>C (p.Ser1125Pro)
c.*141T>C (n.*141T>C)
c.3349T>C (p.Ser1117Pro)
c.913T>C
c.2974T>C (p.Ser992Pro)
n.1889T>C
n.991T>C
c.5107T>C (p.Ser1703Pro)
c.5149T>C (p.Ser1717Pro)
c.5128T>C (p.Ser1710Pro)
c.5122T>C (p.Ser1708Pro)
c.5101T>C (p.Ser1701Pro)
c.4012T>C (p.Ser1338Pro)
c.5110T>C (p.Ser1704Pro)
n.992T>C
11g.70473282A>TCA381676315SHANK2c.3370T>A (p.Ser1124Thr)
c.915T>A (n.915T>A)
c.5137T>A (p.Ser1713Thr)
c.2646T>A
c.4000T>A (p.Ser1334Thr)
c.3427T>A (p.Ser1143Thr)
c.3373T>A (p.Ser1125Thr)
c.*141T>A (n.*141T>A)
c.3349T>A (p.Ser1117Thr)
c.913T>A
c.2974T>A (p.Ser992Thr)
n.1889T>A
n.991T>A
c.5107T>A (p.Ser1703Thr)
c.5149T>A (p.Ser1717Thr)
c.5128T>A (p.Ser1710Thr)
c.5122T>A (p.Ser1708Thr)
c.5101T>A (p.Ser1701Thr)
c.4012T>A (p.Ser1338Thr)
c.5110T>A (p.Ser1704Thr)
n.992T>A
11g.70473283G>ACA475470715SHANK2c.3369C>T (p.Val1123=)
c.914C>T (n.914C>T)
c.5136C>T (p.Val1712=)
c.2645C>T
c.3999C>T (p.Val1333=)
c.3426C>T (p.Val1142=)
c.3372C>T (p.Val1124=)
c.*140C>T (n.*140C>T)
c.3348C>T (p.Val1116=)
c.912C>T
c.2973C>T (p.Val991=)
n.1888C>T
n.990C>T
c.5106C>T (p.Val1702=)
c.5148C>T (p.Val1716=)
c.5127C>T (p.Val1709=)
c.5121C>T (p.Val1707=)
c.5100C>T (p.Val1700=)
c.4011C>T (p.Val1337=)
c.5109C>T (p.Val1703=)
n.991C>T
11g.70473283G>CCA475470714SHANK2c.3369C>G (p.Val1123=)
c.914C>G (n.914C>G)
c.5136C>G (p.Val1712=)
c.2645C>G
c.3999C>G (p.Val1333=)
c.3426C>G (p.Val1142=)
c.3372C>G (p.Val1124=)
c.*140C>G (n.*140C>G)
c.3348C>G (p.Val1116=)
c.912C>G
c.2973C>G (p.Val991=)
n.1888C>G
n.990C>G
c.5106C>G (p.Val1702=)
c.5148C>G (p.Val1716=)
c.5127C>G (p.Val1709=)
c.5121C>G (p.Val1707=)
c.5100C>G (p.Val1700=)
c.4011C>G (p.Val1337=)
c.5109C>G (p.Val1703=)
n.991C>G
11g.70473283G>TCA475470713SHANK2c.3369C>A (p.Val1123=)
c.914C>A (n.914C>A)
c.5136C>A (p.Val1712=)
c.2645C>A
c.3999C>A (p.Val1333=)
c.3426C>A (p.Val1142=)
c.3372C>A (p.Val1124=)
c.*140C>A (n.*140C>A)
c.3348C>A (p.Val1116=)
c.912C>A
c.2973C>A (p.Val991=)
n.1888C>A
n.990C>A
c.5106C>A (p.Val1702=)
c.5148C>A (p.Val1716=)
c.5127C>A (p.Val1709=)
c.5121C>A (p.Val1707=)
c.5100C>A (p.Val1700=)
c.4011C>A (p.Val1337=)
c.5109C>A (p.Val1703=)
n.991C>A
11g.70473284A=CA1981067983SHANK2c.3368T= (p.Val1123=)
c.913T= (n.913T=)
c.5135T= (p.Val1712=)
c.2644T=
c.3998T= (p.Val1333=)
c.3425T= (p.Val1142=)
c.3371T= (p.Val1124=)
c.*139T= (n.*139T=)
c.3347T= (p.Val1116=)
c.911T=
c.2972T= (p.Val991=)
n.1887T=
n.989T=
c.5105T= (p.Val1702=)
c.5147T= (p.Val1716=)
c.5126T= (p.Val1709=)
c.5120T= (p.Val1707=)
c.5099T= (p.Val1700=)
c.4010T= (p.Val1337=)
c.5108T= (p.Val1703=)
n.990T=
11g.70473284A>CCA381676318SHANK2c.3368T>G (p.Val1123Gly)
c.913T>G (n.913T>G)
c.5135T>G (p.Val1712Gly)
c.2644T>G
c.3998T>G (p.Val1333Gly)
c.3425T>G (p.Val1142Gly)
c.3371T>G (p.Val1124Gly)
c.*139T>G (n.*139T>G)
c.3347T>G (p.Val1116Gly)
c.911T>G
c.2972T>G (p.Val991Gly)
n.1887T>G
n.989T>G
c.5105T>G (p.Val1702Gly)
c.5147T>G (p.Val1716Gly)
c.5126T>G (p.Val1709Gly)
c.5120T>G (p.Val1707Gly)
c.5099T>G (p.Val1700Gly)
c.4010T>G (p.Val1337Gly)
c.5108T>G (p.Val1703Gly)
n.990T>G
11g.70473284A>GCA381676319SHANK2c.3368T>C (p.Val1123Ala)
c.913T>C (n.913T>C)
c.5135T>C (p.Val1712Ala)
c.2644T>C
c.3998T>C (p.Val1333Ala)
c.3425T>C (p.Val1142Ala)
c.3371T>C (p.Val1124Ala)
c.*139T>C (n.*139T>C)
c.3347T>C (p.Val1116Ala)
c.911T>C
c.2972T>C (p.Val991Ala)
n.1887T>C
n.989T>C
c.5105T>C (p.Val1702Ala)
c.5147T>C (p.Val1716Ala)
c.5126T>C (p.Val1709Ala)
c.5120T>C (p.Val1707Ala)
c.5099T>C (p.Val1700Ala)
c.4010T>C (p.Val1337Ala)
c.5108T>C (p.Val1703Ala)
n.990T>C
 dbSNP
11g.70473284A>TCA381676320SHANK2c.3368T>A (p.Val1123Asp)
c.913T>A (n.913T>A)
c.5135T>A (p.Val1712Asp)
c.2644T>A
c.3998T>A (p.Val1333Asp)
c.3425T>A (p.Val1142Asp)
c.3371T>A (p.Val1124Asp)
c.*139T>A (n.*139T>A)
c.3347T>A (p.Val1116Asp)
c.911T>A
c.2972T>A (p.Val991Asp)
n.1887T>A
n.989T>A
c.5105T>A (p.Val1702Asp)
c.5147T>A (p.Val1716Asp)
c.5126T>A (p.Val1709Asp)
c.5120T>A (p.Val1707Asp)
c.5099T>A (p.Val1700Asp)
c.4010T>A (p.Val1337Asp)
c.5108T>A (p.Val1703Asp)
n.990T>A
11g.70473285C>ACA381676321SHANK2c.3367G>T (p.Val1123Phe)
c.912G>T (n.912G>T)
c.5134G>T (p.Val1712Phe)
c.2643G>T
c.3997G>T (p.Val1333Phe)
c.3424G>T (p.Val1142Phe)
c.3370G>T (p.Val1124Phe)
c.*138G>T (n.*138G>T)
c.3346G>T (p.Val1116Phe)
c.910G>T
c.2971G>T (p.Val991Phe)
n.1886G>T
n.988G>T
c.5104G>T (p.Val1702Phe)
c.5146G>T (p.Val1716Phe)
c.5125G>T (p.Val1709Phe)
c.5119G>T (p.Val1707Phe)
c.5098G>T (p.Val1700Phe)
c.4009G>T (p.Val1337Phe)
c.5107G>T (p.Val1703Phe)
n.989G>T
11g.70473285C=CA1981067984SHANK2c.3367G= (p.Val1123=)
c.912G= (n.912G=)
c.5134G= (p.Val1712=)
c.2643G=
c.3997G= (p.Val1333=)
c.3424G= (p.Val1142=)
c.3370G= (p.Val1124=)
c.*138G= (n.*138G=)
c.3346G= (p.Val1116=)
c.910G=
c.2971G= (p.Val991=)
n.1886G=
n.988G=
c.5104G= (p.Val1702=)
c.5146G= (p.Val1716=)
c.5125G= (p.Val1709=)
c.5119G= (p.Val1707=)
c.5098G= (p.Val1700=)
c.4009G= (p.Val1337=)
c.5107G= (p.Val1703=)
n.989G=
11g.70473285C>GCA381676322SHANK2c.3367G>C (p.Val1123Leu)
c.912G>C (n.912G>C)
c.5134G>C (p.Val1712Leu)
c.2643G>C
c.3997G>C (p.Val1333Leu)
c.3424G>C (p.Val1142Leu)
c.3370G>C (p.Val1124Leu)
c.*138G>C (n.*138G>C)
c.3346G>C (p.Val1116Leu)
c.910G>C
c.2971G>C (p.Val991Leu)
n.1886G>C
n.988G>C
c.5104G>C (p.Val1702Leu)
c.5146G>C (p.Val1716Leu)
c.5125G>C (p.Val1709Leu)
c.5119G>C (p.Val1707Leu)
c.5098G>C (p.Val1700Leu)
c.4009G>C (p.Val1337Leu)
c.5107G>C (p.Val1703Leu)
n.989G>C
11g.70473285C>TCA381676323SHANK2c.3367G>A (p.Val1123Ile)
c.912G>A (n.912G>A)
c.5134G>A (p.Val1712Ile)
c.2643G>A
c.3997G>A (p.Val1333Ile)
c.3424G>A (p.Val1142Ile)
c.3370G>A (p.Val1124Ile)
c.*138G>A (n.*138G>A)
c.3346G>A (p.Val1116Ile)
c.910G>A
c.2971G>A (p.Val991Ile)
n.1886G>A
n.988G>A
c.5104G>A (p.Val1702Ile)
c.5146G>A (p.Val1716Ile)
c.5125G>A (p.Val1709Ile)
c.5119G>A (p.Val1707Ile)
c.5098G>A (p.Val1700Ile)
c.4009G>A (p.Val1337Ile)
c.5107G>A (p.Val1703Ile)
n.989G>A
 dbSNP gnomAD v4
11g.70473286C>ACA475470716SHANK2c.3366G>T (p.Val1122=)
c.911G>T (n.911G>T)
c.5133G>T (p.Val1711=)
c.2642G>T
c.3996G>T (p.Val1332=)
c.3423G>T (p.Val1141=)
c.3369G>T (p.Val1123=)
c.*137G>T (n.*137G>T)
c.3345G>T (p.Val1115=)
c.909G>T
c.2970G>T (p.Val990=)
n.1885G>T
n.987G>T
c.5103G>T (p.Val1701=)
c.5145G>T (p.Val1715=)
c.5124G>T (p.Val1708=)
c.5118G>T (p.Val1706=)
c.5097G>T (p.Val1699=)
c.4008G>T (p.Val1336=)
c.5106G>T (p.Val1702=)
n.988G>T
 dbSNP
11g.70473286C=CA1981067985SHANK2c.3366G= (p.Val1122=)
c.911G= (n.911G=)
c.5133G= (p.Val1711=)
c.2642G=
c.3996G= (p.Val1332=)
c.3423G= (p.Val1141=)
c.3369G= (p.Val1123=)
c.*137G= (n.*137G=)
c.3345G= (p.Val1115=)
c.909G=
c.2970G= (p.Val990=)
n.1885G=
n.987G=
c.5103G= (p.Val1701=)
c.5145G= (p.Val1715=)
c.5124G= (p.Val1708=)
c.5118G= (p.Val1706=)
c.5097G= (p.Val1699=)
c.4008G= (p.Val1336=)
c.5106G= (p.Val1702=)
n.988G=
11g.70473286C>GCA475470718SHANK2c.3366G>C (p.Val1122=)
c.911G>C (n.911G>C)
c.5133G>C (p.Val1711=)
c.2642G>C
c.3996G>C (p.Val1332=)
c.3423G>C (p.Val1141=)
c.3369G>C (p.Val1123=)
c.*137G>C (n.*137G>C)
c.3345G>C (p.Val1115=)
c.909G>C
c.2970G>C (p.Val990=)
n.1885G>C
n.987G>C
c.5103G>C (p.Val1701=)
c.5145G>C (p.Val1715=)
c.5124G>C (p.Val1708=)
c.5118G>C (p.Val1706=)
c.5097G>C (p.Val1699=)
c.4008G>C (p.Val1336=)
c.5106G>C (p.Val1702=)
n.988G>C
11g.70473286C>TCA475470717SHANK2c.3366G>A (p.Val1122=)
c.911G>A (n.911G>A)
c.5133G>A (p.Val1711=)
c.2642G>A
c.3996G>A (p.Val1332=)
c.3423G>A (p.Val1141=)
c.3369G>A (p.Val1123=)
c.*137G>A (n.*137G>A)
c.3345G>A (p.Val1115=)
c.909G>A
c.2970G>A (p.Val990=)
n.1885G>A
n.987G>A
c.5103G>A (p.Val1701=)
c.5145G>A (p.Val1715=)
c.5124G>A (p.Val1708=)
c.5118G>A (p.Val1706=)
c.5097G>A (p.Val1699=)
c.4008G>A (p.Val1336=)
c.5106G>A (p.Val1702=)
n.988G>A
11g.70473287A>CCA381676326SHANK2c.3365T>G (p.Val1122Gly)
c.910T>G (n.910T>G)
c.5132T>G (p.Val1711Gly)
c.2641T>G
c.3995T>G (p.Val1332Gly)
c.3422T>G (p.Val1141Gly)
c.3368T>G (p.Val1123Gly)
c.*136T>G (n.*136T>G)
c.3344T>G (p.Val1115Gly)
c.908T>G
c.2969T>G (p.Val990Gly)
n.1884T>G
n.986T>G
c.5102T>G (p.Val1701Gly)
c.5144T>G (p.Val1715Gly)
c.5123T>G (p.Val1708Gly)
c.5117T>G (p.Val1706Gly)
c.5096T>G (p.Val1699Gly)
c.4007T>G (p.Val1336Gly)
c.5105T>G (p.Val1702Gly)
n.987T>G
11g.70473287A>GCA381676324SHANK2c.3365T>C (p.Val1122Ala)
c.910T>C (n.910T>C)
c.5132T>C (p.Val1711Ala)
c.2641T>C
c.3995T>C (p.Val1332Ala)
c.3422T>C (p.Val1141Ala)
c.3368T>C (p.Val1123Ala)
c.*136T>C (n.*136T>C)
c.3344T>C (p.Val1115Ala)
c.908T>C
c.2969T>C (p.Val990Ala)
n.1884T>C
n.986T>C
c.5102T>C (p.Val1701Ala)
c.5144T>C (p.Val1715Ala)
c.5123T>C (p.Val1708Ala)
c.5117T>C (p.Val1706Ala)
c.5096T>C (p.Val1699Ala)
c.4007T>C (p.Val1336Ala)
c.5105T>C (p.Val1702Ala)
n.987T>C
11g.70473287A>TCA381676325SHANK2c.3365T>A (p.Val1122Glu)
c.910T>A (n.910T>A)
c.5132T>A (p.Val1711Glu)
c.2641T>A
c.3995T>A (p.Val1332Glu)
c.3422T>A (p.Val1141Glu)
c.3368T>A (p.Val1123Glu)
c.*136T>A (n.*136T>A)
c.3344T>A (p.Val1115Glu)
c.908T>A
c.2969T>A (p.Val990Glu)
n.1884T>A
n.986T>A
c.5102T>A (p.Val1701Glu)
c.5144T>A (p.Val1715Glu)
c.5123T>A (p.Val1708Glu)
c.5117T>A (p.Val1706Glu)
c.5096T>A (p.Val1699Glu)
c.4007T>A (p.Val1336Glu)
c.5105T>A (p.Val1702Glu)
n.987T>A
11g.70473288C>ACA381676327SHANK2c.3364G>T (p.Val1122Leu)
c.909G>T (n.909G>T)
c.5131G>T (p.Val1711Leu)
c.2640G>T
c.3994G>T (p.Val1332Leu)
c.3421G>T (p.Val1141Leu)
c.3367G>T (p.Val1123Leu)
c.*135G>T (n.*135G>T)
c.3343G>T (p.Val1115Leu)
c.907G>T
c.2968G>T (p.Val990Leu)
n.1883G>T
n.985G>T
c.5101G>T (p.Val1701Leu)
c.5143G>T (p.Val1715Leu)
c.5122G>T (p.Val1708Leu)
c.5116G>T (p.Val1706Leu)
c.5095G>T (p.Val1699Leu)
c.4006G>T (p.Val1336Leu)
c.5104G>T (p.Val1702Leu)
n.986G>T
 gnomAD v4
11g.70473288C>GCA381676328SHANK2c.3364G>C (p.Val1122Leu)
c.909G>C (n.909G>C)
c.5131G>C (p.Val1711Leu)
c.2640G>C
c.3994G>C (p.Val1332Leu)
c.3421G>C (p.Val1141Leu)
c.3367G>C (p.Val1123Leu)
c.*135G>C (n.*135G>C)
c.3343G>C (p.Val1115Leu)
c.907G>C
c.2968G>C (p.Val990Leu)
n.1883G>C
n.985G>C
c.5101G>C (p.Val1701Leu)
c.5143G>C (p.Val1715Leu)
c.5122G>C (p.Val1708Leu)
c.5116G>C (p.Val1706Leu)
c.5095G>C (p.Val1699Leu)
c.4006G>C (p.Val1336Leu)
c.5104G>C (p.Val1702Leu)
n.986G>C
11g.70473288C>TCA381676329SHANK2c.3364G>A (p.Val1122Met)
c.909G>A (n.909G>A)
c.5131G>A (p.Val1711Met)
c.2640G>A
c.3994G>A (p.Val1332Met)
c.3421G>A (p.Val1141Met)
c.3367G>A (p.Val1123Met)
c.*135G>A (n.*135G>A)
c.3343G>A (p.Val1115Met)
c.907G>A
c.2968G>A (p.Val990Met)
n.1883G>A
n.985G>A
c.5101G>A (p.Val1701Met)
c.5143G>A (p.Val1715Met)
c.5122G>A (p.Val1708Met)
c.5116G>A (p.Val1706Met)
c.5095G>A (p.Val1699Met)
c.4006G>A (p.Val1336Met)
c.5104G>A (p.Val1702Met)
n.986G>A
11g.70473289A>CCA475470719SHANK2c.3363T>G (p.Pro1121=)
c.908T>G (n.908T>G)
c.5130T>G (p.Pro1710=)
c.2639T>G
c.3993T>G (p.Pro1331=)
c.3420T>G (p.Pro1140=)
c.3366T>G (p.Pro1122=)
c.*134T>G (n.*134T>G)
c.3342T>G (p.Pro1114=)
c.906T>G
c.2967T>G (p.Pro989=)
n.1882T>G
n.984T>G
c.5100T>G (p.Pro1700=)
c.5142T>G (p.Pro1714=)
c.5121T>G (p.Pro1707=)
c.5115T>G (p.Pro1705=)
c.5094T>G (p.Pro1698=)
c.4005T>G (p.Pro1335=)
c.5103T>G (p.Pro1701=)
n.985T>G
11g.70473289A>GCA475470720SHANK2c.3363T>C (p.Pro1121=)
c.908T>C (n.908T>C)
c.5130T>C (p.Pro1710=)
c.2639T>C
c.3993T>C (p.Pro1331=)
c.3420T>C (p.Pro1140=)
c.3366T>C (p.Pro1122=)
c.*134T>C (n.*134T>C)
c.3342T>C (p.Pro1114=)
c.906T>C
c.2967T>C (p.Pro989=)
n.1882T>C
n.984T>C
c.5100T>C (p.Pro1700=)
c.5142T>C (p.Pro1714=)
c.5121T>C (p.Pro1707=)
c.5115T>C (p.Pro1705=)
c.5094T>C (p.Pro1698=)
c.4005T>C (p.Pro1335=)
c.5103T>C (p.Pro1701=)
n.985T>C
11g.70473289A>TCA475470721SHANK2c.3363T>A (p.Pro1121=)
c.908T>A (n.908T>A)
c.5130T>A (p.Pro1710=)
c.2639T>A
c.3993T>A (p.Pro1331=)
c.3420T>A (p.Pro1140=)
c.3366T>A (p.Pro1122=)
c.*134T>A (n.*134T>A)
c.3342T>A (p.Pro1114=)
c.906T>A
c.2967T>A (p.Pro989=)
n.1882T>A
n.984T>A
c.5100T>A (p.Pro1700=)
c.5142T>A (p.Pro1714=)
c.5121T>A (p.Pro1707=)
c.5115T>A (p.Pro1705=)
c.5094T>A (p.Pro1698=)
c.4005T>A (p.Pro1335=)
c.5103T>A (p.Pro1701=)
n.985T>A
11g.70473290G>ACA381676330SHANK2c.3362C>T (p.Pro1121Leu)
c.907C>T (n.907C>T)
c.5129C>T (p.Pro1710Leu)
c.2638C>T
c.3992C>T (p.Pro1331Leu)
c.3419C>T (p.Pro1140Leu)
c.3365C>T (p.Pro1122Leu)
c.*133C>T (n.*133C>T)
c.3341C>T (p.Pro1114Leu)
c.905C>T
c.2966C>T (p.Pro989Leu)
n.1881C>T
n.983C>T
c.5099C>T (p.Pro1700Leu)
c.5141C>T (p.Pro1714Leu)
c.5120C>T (p.Pro1707Leu)
c.5114C>T (p.Pro1705Leu)
c.5093C>T (p.Pro1698Leu)
c.4004C>T (p.Pro1335Leu)
c.5102C>T (p.Pro1701Leu)
n.984C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473290G>CCA381676331SHANK2c.3362C>G (p.Pro1121Arg)
c.907C>G (n.907C>G)
c.5129C>G (p.Pro1710Arg)
c.2638C>G
c.3992C>G (p.Pro1331Arg)
c.3419C>G (p.Pro1140Arg)
c.3365C>G (p.Pro1122Arg)
c.*133C>G (n.*133C>G)
c.3341C>G (p.Pro1114Arg)
c.905C>G
c.2966C>G (p.Pro989Arg)
n.1881C>G
n.983C>G
c.5099C>G (p.Pro1700Arg)
c.5141C>G (p.Pro1714Arg)
c.5120C>G (p.Pro1707Arg)
c.5114C>G (p.Pro1705Arg)
c.5093C>G (p.Pro1698Arg)
c.4004C>G (p.Pro1335Arg)
c.5102C>G (p.Pro1701Arg)
n.984C>G
11g.70473290G=CA1981067986SHANK2c.3362C= (p.Pro1121=)
c.907C= (n.907C=)
c.5129C= (p.Pro1710=)
c.2638C=
c.3992C= (p.Pro1331=)
c.3419C= (p.Pro1140=)
c.3365C= (p.Pro1122=)
c.*133C= (n.*133C=)
c.3341C= (p.Pro1114=)
c.905C=
c.2966C= (p.Pro989=)
n.1881C=
n.983C=
c.5099C= (p.Pro1700=)
c.5141C= (p.Pro1714=)
c.5120C= (p.Pro1707=)
c.5114C= (p.Pro1705=)
c.5093C= (p.Pro1698=)
c.4004C= (p.Pro1335=)
c.5102C= (p.Pro1701=)
n.984C=
11g.70473290G>TCA381676332SHANK2c.3362C>A (p.Pro1121His)
c.907C>A (n.907C>A)
c.5129C>A (p.Pro1710His)
c.2638C>A
c.3992C>A (p.Pro1331His)
c.3419C>A (p.Pro1140His)
c.3365C>A (p.Pro1122His)
c.*133C>A (n.*133C>A)
c.3341C>A (p.Pro1114His)
c.905C>A
c.2966C>A (p.Pro989His)
n.1881C>A
n.983C>A
c.5099C>A (p.Pro1700His)
c.5141C>A (p.Pro1714His)
c.5120C>A (p.Pro1707His)
c.5114C>A (p.Pro1705His)
c.5093C>A (p.Pro1698His)
c.4004C>A (p.Pro1335His)
c.5102C>A (p.Pro1701His)
n.984C>A
11g.70473291G>ACA381676335SHANK2c.3361C>T (p.Pro1121Ser)
c.906C>T (n.906C>T)
c.5128C>T (p.Pro1710Ser)
c.2637C>T
c.3991C>T (p.Pro1331Ser)
c.3418C>T (p.Pro1140Ser)
c.3364C>T (p.Pro1122Ser)
c.*132C>T (n.*132C>T)
c.3340C>T (p.Pro1114Ser)
c.904C>T
c.2965C>T (p.Pro989Ser)
n.1880C>T
n.982C>T
c.5098C>T (p.Pro1700Ser)
c.5140C>T (p.Pro1714Ser)
c.5119C>T (p.Pro1707Ser)
c.5113C>T (p.Pro1705Ser)
c.5092C>T (p.Pro1698Ser)
c.4003C>T (p.Pro1335Ser)
c.5101C>T (p.Pro1701Ser)
n.983C>T
11g.70473291G>CCA381676333SHANK2c.3361C>G (p.Pro1121Ala)
c.906C>G (n.906C>G)
c.5128C>G (p.Pro1710Ala)
c.2637C>G
c.3991C>G (p.Pro1331Ala)
c.3418C>G (p.Pro1140Ala)
c.3364C>G (p.Pro1122Ala)
c.*132C>G (n.*132C>G)
c.3340C>G (p.Pro1114Ala)
c.904C>G
c.2965C>G (p.Pro989Ala)
n.1880C>G
n.982C>G
c.5098C>G (p.Pro1700Ala)
c.5140C>G (p.Pro1714Ala)
c.5119C>G (p.Pro1707Ala)
c.5113C>G (p.Pro1705Ala)
c.5092C>G (p.Pro1698Ala)
c.4003C>G (p.Pro1335Ala)
c.5101C>G (p.Pro1701Ala)
n.983C>G
11g.70473291G>TCA381676334SHANK2c.3361C>A (p.Pro1121Thr)
c.906C>A (n.906C>A)
c.5128C>A (p.Pro1710Thr)
c.2637C>A
c.3991C>A (p.Pro1331Thr)
c.3418C>A (p.Pro1140Thr)
c.3364C>A (p.Pro1122Thr)
c.*132C>A (n.*132C>A)
c.3340C>A (p.Pro1114Thr)
c.904C>A
c.2965C>A (p.Pro989Thr)
n.1880C>A
n.982C>A
c.5098C>A (p.Pro1700Thr)
c.5140C>A (p.Pro1714Thr)
c.5119C>A (p.Pro1707Thr)
c.5113C>A (p.Pro1705Thr)
c.5092C>A (p.Pro1698Thr)
c.4003C>A (p.Pro1335Thr)
c.5101C>A (p.Pro1701Thr)
n.983C>A
11g.70473292G>ACA475470722SHANK2c.3360C>T (p.Ser1120=)
c.905C>T (n.905C>T)
c.5127C>T (p.Ser1709=)
c.2636C>T
c.3990C>T (p.Ser1330=)
c.3417C>T (p.Ser1139=)
c.3363C>T (p.Ser1121=)
c.*131C>T (n.*131C>T)
c.3339C>T (p.Ser1113=)
c.903C>T
c.2964C>T (p.Ser988=)
n.1879C>T
n.981C>T
c.5097C>T (p.Ser1699=)
c.5139C>T (p.Ser1713=)
c.5118C>T (p.Ser1706=)
c.5112C>T (p.Ser1704=)
c.5091C>T (p.Ser1697=)
c.4002C>T (p.Ser1334=)
c.5100C>T (p.Ser1700=)
n.982C>T
 gnomAD v4
11g.70473292G>CCA381676336SHANK2c.3360C>G (p.Ser1120Arg)
c.905C>G (n.905C>G)
c.5127C>G (p.Ser1709Arg)
c.2636C>G
c.3990C>G (p.Ser1330Arg)
c.3417C>G (p.Ser1139Arg)
c.3363C>G (p.Ser1121Arg)
c.*131C>G (n.*131C>G)
c.3339C>G (p.Ser1113Arg)
c.903C>G
c.2964C>G (p.Ser988Arg)
n.1879C>G
n.981C>G
c.5097C>G (p.Ser1699Arg)
c.5139C>G (p.Ser1713Arg)
c.5118C>G (p.Ser1706Arg)
c.5112C>G (p.Ser1704Arg)
c.5091C>G (p.Ser1697Arg)
c.4002C>G (p.Ser1334Arg)
c.5100C>G (p.Ser1700Arg)
n.982C>G
11g.70473292G=CA1981067987SHANK2c.3360C= (p.Ser1120=)
c.905C= (n.905C=)
c.5127C= (p.Ser1709=)
c.2636C=
c.3990C= (p.Ser1330=)
c.3417C= (p.Ser1139=)
c.3363C= (p.Ser1121=)
c.*131C= (n.*131C=)
c.3339C= (p.Ser1113=)
c.903C=
c.2964C= (p.Ser988=)
n.1879C=
n.981C=
c.5097C= (p.Ser1699=)
c.5139C= (p.Ser1713=)
c.5118C= (p.Ser1706=)
c.5112C= (p.Ser1704=)
c.5091C= (p.Ser1697=)
c.4002C= (p.Ser1334=)
c.5100C= (p.Ser1700=)
n.982C=
11g.70473292G>TCA6160765SHANK2c.3360C>A (p.Ser1120Arg)
c.905C>A (n.905C>A)
c.5127C>A (p.Ser1709Arg)
c.2636C>A
c.3990C>A (p.Ser1330Arg)
c.3417C>A (p.Ser1139Arg)
c.3363C>A (p.Ser1121Arg)
c.*131C>A (n.*131C>A)
c.3339C>A (p.Ser1113Arg)
c.903C>A
c.2964C>A (p.Ser988Arg)
n.1879C>A
n.981C>A
c.5097C>A (p.Ser1699Arg)
c.5139C>A (p.Ser1713Arg)
c.5118C>A (p.Ser1706Arg)
c.5112C>A (p.Ser1704Arg)
c.5091C>A (p.Ser1697Arg)
c.4002C>A (p.Ser1334Arg)
c.5100C>A (p.Ser1700Arg)
n.982C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473293C>ACA381676337SHANK2c.3359G>T (p.Ser1120Ile)
c.904G>T (n.904G>T)
c.5126G>T (p.Ser1709Ile)
c.2635G>T
c.3989G>T (p.Ser1330Ile)
c.3416G>T (p.Ser1139Ile)
c.3362G>T (p.Ser1121Ile)
c.*130G>T (n.*130G>T)
c.3338G>T (p.Ser1113Ile)
c.902G>T
c.2963G>T (p.Ser988Ile)
n.1878G>T
n.980G>T
c.5096G>T (p.Ser1699Ile)
c.5138G>T (p.Ser1713Ile)
c.5117G>T (p.Ser1706Ile)
c.5111G>T (p.Ser1704Ile)
c.5090G>T (p.Ser1697Ile)
c.4001G>T (p.Ser1334Ile)
c.5099G>T (p.Ser1700Ile)
n.981G>T
 gnomAD v4
11g.70473293C>GCA381676338SHANK2c.3359G>C (p.Ser1120Thr)
c.904G>C (n.904G>C)
c.5126G>C (p.Ser1709Thr)
c.2635G>C
c.3989G>C (p.Ser1330Thr)
c.3416G>C (p.Ser1139Thr)
c.3362G>C (p.Ser1121Thr)
c.*130G>C (n.*130G>C)
c.3338G>C (p.Ser1113Thr)
c.902G>C
c.2963G>C (p.Ser988Thr)
n.1878G>C
n.980G>C
c.5096G>C (p.Ser1699Thr)
c.5138G>C (p.Ser1713Thr)
c.5117G>C (p.Ser1706Thr)
c.5111G>C (p.Ser1704Thr)
c.5090G>C (p.Ser1697Thr)
c.4001G>C (p.Ser1334Thr)
c.5099G>C (p.Ser1700Thr)
n.981G>C
11g.70473293C>TCA381676339SHANK2c.3359G>A (p.Ser1120Asn)
c.904G>A (n.904G>A)
c.5126G>A (p.Ser1709Asn)
c.2635G>A
c.3989G>A (p.Ser1330Asn)
c.3416G>A (p.Ser1139Asn)
c.3362G>A (p.Ser1121Asn)
c.*130G>A (n.*130G>A)
c.3338G>A (p.Ser1113Asn)
c.902G>A
c.2963G>A (p.Ser988Asn)
n.1878G>A
n.980G>A
c.5096G>A (p.Ser1699Asn)
c.5138G>A (p.Ser1713Asn)
c.5117G>A (p.Ser1706Asn)
c.5111G>A (p.Ser1704Asn)
c.5090G>A (p.Ser1697Asn)
c.4001G>A (p.Ser1334Asn)
c.5099G>A (p.Ser1700Asn)
n.981G>A
11g.70473294T>ACA381676340SHANK2c.3358A>T (p.Ser1120Cys)
c.903A>T (n.903A>T)
c.5125A>T (p.Ser1709Cys)
c.2634A>T
c.3988A>T (p.Ser1330Cys)
c.3415A>T (p.Ser1139Cys)
c.3361A>T (p.Ser1121Cys)
c.*129A>T (n.*129A>T)
c.3337A>T (p.Ser1113Cys)
c.901A>T
c.2962A>T (p.Ser988Cys)
n.1877A>T
n.979A>T
c.5095A>T (p.Ser1699Cys)
c.5137A>T (p.Ser1713Cys)
c.5116A>T (p.Ser1706Cys)
c.5110A>T (p.Ser1704Cys)
c.5089A>T (p.Ser1697Cys)
c.4000A>T (p.Ser1334Cys)
c.5098A>T (p.Ser1700Cys)
n.980A>T
11g.70473294T>CCA381676342SHANK2c.3358A>G (p.Ser1120Gly)
c.903A>G (n.903A>G)
c.5125A>G (p.Ser1709Gly)
c.2634A>G
c.3988A>G (p.Ser1330Gly)
c.3415A>G (p.Ser1139Gly)
c.3361A>G (p.Ser1121Gly)
c.*129A>G (n.*129A>G)
c.3337A>G (p.Ser1113Gly)
c.901A>G
c.2962A>G (p.Ser988Gly)
n.1877A>G
n.979A>G
c.5095A>G (p.Ser1699Gly)
c.5137A>G (p.Ser1713Gly)
c.5116A>G (p.Ser1706Gly)
c.5110A>G (p.Ser1704Gly)
c.5089A>G (p.Ser1697Gly)
c.4000A>G (p.Ser1334Gly)
c.5098A>G (p.Ser1700Gly)
n.980A>G
11g.70473294T>GCA381676341SHANK2c.3358A>C (p.Ser1120Arg)
c.903A>C (n.903A>C)
c.5125A>C (p.Ser1709Arg)
c.2634A>C
c.3988A>C (p.Ser1330Arg)
c.3415A>C (p.Ser1139Arg)
c.3361A>C (p.Ser1121Arg)
c.*129A>C (n.*129A>C)
c.3337A>C (p.Ser1113Arg)
c.901A>C
c.2962A>C (p.Ser988Arg)
n.1877A>C
n.979A>C
c.5095A>C (p.Ser1699Arg)
c.5137A>C (p.Ser1713Arg)
c.5116A>C (p.Ser1706Arg)
c.5110A>C (p.Ser1704Arg)
c.5089A>C (p.Ser1697Arg)
c.4000A>C (p.Ser1334Arg)
c.5098A>C (p.Ser1700Arg)
n.980A>C
11g.70473295T>ACA475470725SHANK2c.3357A>T (p.Pro1119=)
c.902A>T (n.902A>T)
c.5124A>T (p.Pro1708=)
c.2633A>T
c.3987A>T (p.Pro1329=)
c.3414A>T (p.Pro1138=)
c.3360A>T (p.Pro1120=)
c.*128A>T (n.*128A>T)
c.3336A>T (p.Pro1112=)
c.900A>T
c.2961A>T (p.Pro987=)
n.1876A>T
n.978A>T
c.5094A>T (p.Pro1698=)
c.5136A>T (p.Pro1712=)
c.5115A>T (p.Pro1705=)
c.5109A>T (p.Pro1703=)
c.5088A>T (p.Pro1696=)
c.3999A>T (p.Pro1333=)
c.5097A>T (p.Pro1699=)
n.979A>T
11g.70473295T>CCA475470726SHANK2c.3357A>G (p.Pro1119=)
c.902A>G (n.902A>G)
c.5124A>G (p.Pro1708=)
c.2633A>G
c.3987A>G (p.Pro1329=)
c.3414A>G (p.Pro1138=)
c.3360A>G (p.Pro1120=)
c.*128A>G (n.*128A>G)
c.3336A>G (p.Pro1112=)
c.900A>G
c.2961A>G (p.Pro987=)
n.1876A>G
n.978A>G
c.5094A>G (p.Pro1698=)
c.5136A>G (p.Pro1712=)
c.5115A>G (p.Pro1705=)
c.5109A>G (p.Pro1703=)
c.5088A>G (p.Pro1696=)
c.3999A>G (p.Pro1333=)
c.5097A>G (p.Pro1699=)
n.979A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473295T>GCA475470727SHANK2c.3357A>C (p.Pro1119=)
c.902A>C (n.902A>C)
c.5124A>C (p.Pro1708=)
c.2633A>C
c.3987A>C (p.Pro1329=)
c.3414A>C (p.Pro1138=)
c.3360A>C (p.Pro1120=)
c.*128A>C (n.*128A>C)
c.3336A>C (p.Pro1112=)
c.900A>C
c.2961A>C (p.Pro987=)
n.1876A>C
n.978A>C
c.5094A>C (p.Pro1698=)
c.5136A>C (p.Pro1712=)
c.5115A>C (p.Pro1705=)
c.5109A>C (p.Pro1703=)
c.5088A>C (p.Pro1696=)
c.3999A>C (p.Pro1333=)
c.5097A>C (p.Pro1699=)
n.979A>C
11g.70473295T=CA1981067988SHANK2c.3357A= (p.Pro1119=)
c.902A= (n.902A=)
c.5124A= (p.Pro1708=)
c.2633A=
c.3987A= (p.Pro1329=)
c.3414A= (p.Pro1138=)
c.3360A= (p.Pro1120=)
c.*128A= (n.*128A=)
c.3336A= (p.Pro1112=)
c.900A=
c.2961A= (p.Pro987=)
n.1876A=
n.978A=
c.5094A= (p.Pro1698=)
c.5136A= (p.Pro1712=)
c.5115A= (p.Pro1705=)
c.5109A= (p.Pro1703=)
c.5088A= (p.Pro1696=)
c.3999A= (p.Pro1333=)
c.5097A= (p.Pro1699=)
n.979A=
11g.70473296G>ACA381676343SHANK2c.3356C>T (p.Pro1119Leu)
c.901C>T (n.901C>T)
c.5123C>T (p.Pro1708Leu)
c.2632C>T
c.3986C>T (p.Pro1329Leu)
c.3413C>T (p.Pro1138Leu)
c.3359C>T (p.Pro1120Leu)
c.*127C>T (n.*127C>T)
c.3335C>T (p.Pro1112Leu)
c.899C>T
c.2960C>T (p.Pro987Leu)
n.1875C>T
n.977C>T
c.5093C>T (p.Pro1698Leu)
c.5135C>T (p.Pro1712Leu)
c.5114C>T (p.Pro1705Leu)
c.5108C>T (p.Pro1703Leu)
c.5087C>T (p.Pro1696Leu)
c.3998C>T (p.Pro1333Leu)
c.5096C>T (p.Pro1699Leu)
n.978C>T
11g.70473296G>CCA381676344SHANK2c.3356C>G (p.Pro1119Arg)
c.901C>G (n.901C>G)
c.5123C>G (p.Pro1708Arg)
c.2632C>G
c.3986C>G (p.Pro1329Arg)
c.3413C>G (p.Pro1138Arg)
c.3359C>G (p.Pro1120Arg)
c.*127C>G (n.*127C>G)
c.3335C>G (p.Pro1112Arg)
c.899C>G
c.2960C>G (p.Pro987Arg)
n.1875C>G
n.977C>G
c.5093C>G (p.Pro1698Arg)
c.5135C>G (p.Pro1712Arg)
c.5114C>G (p.Pro1705Arg)
c.5108C>G (p.Pro1703Arg)
c.5087C>G (p.Pro1696Arg)
c.3998C>G (p.Pro1333Arg)
c.5096C>G (p.Pro1699Arg)
n.978C>G
11g.70473296G>TCA381676345SHANK2c.3356C>A (p.Pro1119Gln)
c.901C>A (n.901C>A)
c.5123C>A (p.Pro1708Gln)
c.2632C>A
c.3986C>A (p.Pro1329Gln)
c.3413C>A (p.Pro1138Gln)
c.3359C>A (p.Pro1120Gln)
c.*127C>A (n.*127C>A)
c.3335C>A (p.Pro1112Gln)
c.899C>A
c.2960C>A (p.Pro987Gln)
n.1875C>A
n.977C>A
c.5093C>A (p.Pro1698Gln)
c.5135C>A (p.Pro1712Gln)
c.5114C>A (p.Pro1705Gln)
c.5108C>A (p.Pro1703Gln)
c.5087C>A (p.Pro1696Gln)
c.3998C>A (p.Pro1333Gln)
c.5096C>A (p.Pro1699Gln)
n.978C>A
11g.70473297G>ACA381676346SHANK2c.3355C>T (p.Pro1119Ser)
c.900C>T (n.900C>T)
c.5122C>T (p.Pro1708Ser)
c.2631C>T
c.3985C>T (p.Pro1329Ser)
c.3412C>T (p.Pro1138Ser)
c.3358C>T (p.Pro1120Ser)
c.*126C>T (n.*126C>T)
c.3334C>T (p.Pro1112Ser)
c.898C>T
c.2959C>T (p.Pro987Ser)
n.1874C>T
n.976C>T
c.5092C>T (p.Pro1698Ser)
c.5134C>T (p.Pro1712Ser)
c.5113C>T (p.Pro1705Ser)
c.5107C>T (p.Pro1703Ser)
c.5086C>T (p.Pro1696Ser)
c.3997C>T (p.Pro1333Ser)
c.5095C>T (p.Pro1699Ser)
n.977C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473297G>CCA381676347SHANK2c.3355C>G (p.Pro1119Ala)
c.900C>G (n.900C>G)
c.5122C>G (p.Pro1708Ala)
c.2631C>G
c.3985C>G (p.Pro1329Ala)
c.3412C>G (p.Pro1138Ala)
c.3358C>G (p.Pro1120Ala)
c.*126C>G (n.*126C>G)
c.3334C>G (p.Pro1112Ala)
c.898C>G
c.2959C>G (p.Pro987Ala)
n.1874C>G
n.976C>G
c.5092C>G (p.Pro1698Ala)
c.5134C>G (p.Pro1712Ala)
c.5113C>G (p.Pro1705Ala)
c.5107C>G (p.Pro1703Ala)
c.5086C>G (p.Pro1696Ala)
c.3997C>G (p.Pro1333Ala)
c.5095C>G (p.Pro1699Ala)
n.977C>G
11g.70473297G=CA1981067989SHANK2c.3355C= (p.Pro1119=)
c.900C= (n.900C=)
c.5122C= (p.Pro1708=)
c.2631C=
c.3985C= (p.Pro1329=)
c.3412C= (p.Pro1138=)
c.3358C= (p.Pro1120=)
c.*126C= (n.*126C=)
c.3334C= (p.Pro1112=)
c.898C=
c.2959C= (p.Pro987=)
n.1874C=
n.976C=
c.5092C= (p.Pro1698=)
c.5134C= (p.Pro1712=)
c.5113C= (p.Pro1705=)
c.5107C= (p.Pro1703=)
c.5086C= (p.Pro1696=)
c.3997C= (p.Pro1333=)
c.5095C= (p.Pro1699=)
n.977C=
11g.70473297G>TCA381676348SHANK2c.3355C>A (p.Pro1119Thr)
c.900C>A (n.900C>A)
c.5122C>A (p.Pro1708Thr)
c.2631C>A
c.3985C>A (p.Pro1329Thr)
c.3412C>A (p.Pro1138Thr)
c.3358C>A (p.Pro1120Thr)
c.*126C>A (n.*126C>A)
c.3334C>A (p.Pro1112Thr)
c.898C>A
c.2959C>A (p.Pro987Thr)
n.1874C>A
n.976C>A
c.5092C>A (p.Pro1698Thr)
c.5134C>A (p.Pro1712Thr)
c.5113C>A (p.Pro1705Thr)
c.5107C>A (p.Pro1703Thr)
c.5086C>A (p.Pro1696Thr)
c.3997C>A (p.Pro1333Thr)
c.5095C>A (p.Pro1699Thr)
n.977C>A
11g.70473298G>ACA475470728SHANK2c.3354C>T (p.Ala1118=)
c.899C>T (n.899C>T)
c.5121C>T (p.Ala1707=)
c.2630C>T
c.3984C>T (p.Ala1328=)
c.3411C>T (p.Ala1137=)
c.3357C>T (p.Ala1119=)
c.*125C>T (n.*125C>T)
c.3333C>T (p.Ala1111=)
c.897C>T
c.2958C>T (p.Ala986=)
n.1873C>T
n.975C>T
c.5091C>T (p.Ala1697=)
c.5133C>T (p.Ala1711=)
c.5112C>T (p.Ala1704=)
c.5106C>T (p.Ala1702=)
c.5085C>T (p.Ala1695=)
c.3996C>T (p.Ala1332=)
c.5094C>T (p.Ala1698=)
n.976C>T
11g.70473298G>CCA475470729SHANK2c.3354C>G (p.Ala1118=)
c.899C>G (n.899C>G)
c.5121C>G (p.Ala1707=)
c.2630C>G
c.3984C>G (p.Ala1328=)
c.3411C>G (p.Ala1137=)
c.3357C>G (p.Ala1119=)
c.*125C>G (n.*125C>G)
c.3333C>G (p.Ala1111=)
c.897C>G
c.2958C>G (p.Ala986=)
n.1873C>G
n.975C>G
c.5091C>G (p.Ala1697=)
c.5133C>G (p.Ala1711=)
c.5112C>G (p.Ala1704=)
c.5106C>G (p.Ala1702=)
c.5085C>G (p.Ala1695=)
c.3996C>G (p.Ala1332=)
c.5094C>G (p.Ala1698=)
n.976C>G
11g.70473298G>TCA475470730SHANK2c.3354C>A (p.Ala1118=)
c.899C>A (n.899C>A)
c.5121C>A (p.Ala1707=)
c.2630C>A
c.3984C>A (p.Ala1328=)
c.3411C>A (p.Ala1137=)
c.3357C>A (p.Ala1119=)
c.*125C>A (n.*125C>A)
c.3333C>A (p.Ala1111=)
c.897C>A
c.2958C>A (p.Ala986=)
n.1873C>A
n.975C>A
c.5091C>A (p.Ala1697=)
c.5133C>A (p.Ala1711=)
c.5112C>A (p.Ala1704=)
c.5106C>A (p.Ala1702=)
c.5085C>A (p.Ala1695=)
c.3996C>A (p.Ala1332=)
c.5094C>A (p.Ala1698=)
n.976C>A
11g.70473299G>ACA381676349SHANK2c.3353C>T (p.Ala1118Val)
c.898C>T (n.898C>T)
c.5120C>T (p.Ala1707Val)
c.2629C>T
c.3983C>T (p.Ala1328Val)
c.3410C>T (p.Ala1137Val)
c.3356C>T (p.Ala1119Val)
c.*124C>T (n.*124C>T)
c.3332C>T (p.Ala1111Val)
c.896C>T
c.2957C>T (p.Ala986Val)
n.1872C>T
n.974C>T
c.5090C>T (p.Ala1697Val)
c.5132C>T (p.Ala1711Val)
c.5111C>T (p.Ala1704Val)
c.5105C>T (p.Ala1702Val)
c.5084C>T (p.Ala1695Val)
c.3995C>T (p.Ala1332Val)
c.5093C>T (p.Ala1698Val)
n.975C>T
11g.70473299G>CCA381676350SHANK2c.3353C>G (p.Ala1118Gly)
c.898C>G (n.898C>G)
c.5120C>G (p.Ala1707Gly)
c.2629C>G
c.3983C>G (p.Ala1328Gly)
c.3410C>G (p.Ala1137Gly)
c.3356C>G (p.Ala1119Gly)
c.*124C>G (n.*124C>G)
c.3332C>G (p.Ala1111Gly)
c.896C>G
c.2957C>G (p.Ala986Gly)
n.1872C>G
n.974C>G
c.5090C>G (p.Ala1697Gly)
c.5132C>G (p.Ala1711Gly)
c.5111C>G (p.Ala1704Gly)
c.5105C>G (p.Ala1702Gly)
c.5084C>G (p.Ala1695Gly)
c.3995C>G (p.Ala1332Gly)
c.5093C>G (p.Ala1698Gly)
n.975C>G
11g.70473299G>TCA381676351SHANK2c.3353C>A (p.Ala1118Asp)
c.898C>A (n.898C>A)
c.5120C>A (p.Ala1707Asp)
c.2629C>A
c.3983C>A (p.Ala1328Asp)
c.3410C>A (p.Ala1137Asp)
c.3356C>A (p.Ala1119Asp)
c.*124C>A (n.*124C>A)
c.3332C>A (p.Ala1111Asp)
c.896C>A
c.2957C>A (p.Ala986Asp)
n.1872C>A
n.974C>A
c.5090C>A (p.Ala1697Asp)
c.5132C>A (p.Ala1711Asp)
c.5111C>A (p.Ala1704Asp)
c.5105C>A (p.Ala1702Asp)
c.5084C>A (p.Ala1695Asp)
c.3995C>A (p.Ala1332Asp)
c.5093C>A (p.Ala1698Asp)
n.975C>A
 gnomAD v4
11g.70473300C>ACA381676352SHANK2c.3352G>T (p.Ala1118Ser)
c.897G>T (n.897G>T)
c.5119G>T (p.Ala1707Ser)
c.2628G>T
c.3982G>T (p.Ala1328Ser)
c.3409G>T (p.Ala1137Ser)
c.3355G>T (p.Ala1119Ser)
c.*123G>T (n.*123G>T)
c.3331G>T (p.Ala1111Ser)
c.895G>T
c.2956G>T (p.Ala986Ser)
n.1871G>T
n.973G>T
c.5089G>T (p.Ala1697Ser)
c.5131G>T (p.Ala1711Ser)
c.5110G>T (p.Ala1704Ser)
c.5104G>T (p.Ala1702Ser)
c.5083G>T (p.Ala1695Ser)
c.3994G>T (p.Ala1332Ser)
c.5092G>T (p.Ala1698Ser)
n.974G>T
11g.70473300C>GCA381676353SHANK2c.3352G>C (p.Ala1118Pro)
c.897G>C (n.897G>C)
c.5119G>C (p.Ala1707Pro)
c.2628G>C
c.3982G>C (p.Ala1328Pro)
c.3409G>C (p.Ala1137Pro)
c.3355G>C (p.Ala1119Pro)
c.*123G>C (n.*123G>C)
c.3331G>C (p.Ala1111Pro)
c.895G>C
c.2956G>C (p.Ala986Pro)
n.1871G>C
n.973G>C
c.5089G>C (p.Ala1697Pro)
c.5131G>C (p.Ala1711Pro)
c.5110G>C (p.Ala1704Pro)
c.5104G>C (p.Ala1702Pro)
c.5083G>C (p.Ala1695Pro)
c.3994G>C (p.Ala1332Pro)
c.5092G>C (p.Ala1698Pro)
n.974G>C
11g.70473300C>TCA381676354SHANK2c.3352G>A (p.Ala1118Thr)
c.897G>A (n.897G>A)
c.5119G>A (p.Ala1707Thr)
c.2628G>A
c.3982G>A (p.Ala1328Thr)
c.3409G>A (p.Ala1137Thr)
c.3355G>A (p.Ala1119Thr)
c.*123G>A (n.*123G>A)
c.3331G>A (p.Ala1111Thr)
c.895G>A
c.2956G>A (p.Ala986Thr)
n.1871G>A
n.973G>A
c.5089G>A (p.Ala1697Thr)
c.5131G>A (p.Ala1711Thr)
c.5110G>A (p.Ala1704Thr)
c.5104G>A (p.Ala1702Thr)
c.5083G>A (p.Ala1695Thr)
c.3994G>A (p.Ala1332Thr)
c.5092G>A (p.Ala1698Thr)
n.974G>A
11g.70473301A=CA1981067990SHANK2c.3351T= (p.Arg1117=)
c.896T= (n.896T=)
c.5118T= (p.Arg1706=)
c.2627T=
c.3981T= (p.Arg1327=)
c.3408T= (p.Arg1136=)
c.3354T= (p.Arg1118=)
c.*122T= (n.*122T=)
c.3330T= (p.Arg1110=)
c.894T=
c.2955T= (p.Arg985=)
n.1870T=
n.972T=
c.5088T= (p.Arg1696=)
c.5130T= (p.Arg1710=)
c.5109T= (p.Arg1703=)
c.5103T= (p.Arg1701=)
c.5082T= (p.Arg1694=)
c.3993T= (p.Arg1331=)
c.5091T= (p.Arg1697=)
n.973T=
11g.70473301A>CCA475470731SHANK2c.3351T>G (p.Arg1117=)
c.896T>G (n.896T>G)
c.5118T>G (p.Arg1706=)
c.2627T>G
c.3981T>G (p.Arg1327=)
c.3408T>G (p.Arg1136=)
c.3354T>G (p.Arg1118=)
c.*122T>G (n.*122T>G)
c.3330T>G (p.Arg1110=)
c.894T>G
c.2955T>G (p.Arg985=)
n.1870T>G
n.972T>G
c.5088T>G (p.Arg1696=)
c.5130T>G (p.Arg1710=)
c.5109T>G (p.Arg1703=)
c.5103T>G (p.Arg1701=)
c.5082T>G (p.Arg1694=)
c.3993T>G (p.Arg1331=)
c.5091T>G (p.Arg1697=)
n.973T>G
11g.70473301A>GCA475470732SHANK2c.3351T>C (p.Arg1117=)
c.896T>C (n.896T>C)
c.5118T>C (p.Arg1706=)
c.2627T>C
c.3981T>C (p.Arg1327=)
c.3408T>C (p.Arg1136=)
c.3354T>C (p.Arg1118=)
c.*122T>C (n.*122T>C)
c.3330T>C (p.Arg1110=)
c.894T>C
c.2955T>C (p.Arg985=)
n.1870T>C
n.972T>C
c.5088T>C (p.Arg1696=)
c.5130T>C (p.Arg1710=)
c.5109T>C (p.Arg1703=)
c.5103T>C (p.Arg1701=)
c.5082T>C (p.Arg1694=)
c.3993T>C (p.Arg1331=)
c.5091T>C (p.Arg1697=)
n.973T>C
 dbSNP gnomAD v2 gnomAD v4
11g.70473301A>TCA475470733SHANK2c.3351T>A (p.Arg1117=)
c.896T>A (n.896T>A)
c.5118T>A (p.Arg1706=)
c.2627T>A
c.3981T>A (p.Arg1327=)
c.3408T>A (p.Arg1136=)
c.3354T>A (p.Arg1118=)
c.*122T>A (n.*122T>A)
c.3330T>A (p.Arg1110=)
c.894T>A
c.2955T>A (p.Arg985=)
n.1870T>A
n.972T>A
c.5088T>A (p.Arg1696=)
c.5130T>A (p.Arg1710=)
c.5109T>A (p.Arg1703=)
c.5103T>A (p.Arg1701=)
c.5082T>A (p.Arg1694=)
c.3993T>A (p.Arg1331=)
c.5091T>A (p.Arg1697=)
n.973T>A
11g.70473302C>ACA381676355SHANK2c.3350G>T (p.Arg1117Leu)
c.895G>T (n.895G>T)
c.5117G>T (p.Arg1706Leu)
c.2626G>T
c.3980G>T (p.Arg1327Leu)
c.3407G>T (p.Arg1136Leu)
c.3353G>T (p.Arg1118Leu)
c.*121G>T (n.*121G>T)
c.3329G>T (p.Arg1110Leu)
c.893G>T
c.2954G>T (p.Arg985Leu)
n.1869G>T
n.971G>T
c.5087G>T (p.Arg1696Leu)
c.5129G>T (p.Arg1710Leu)
c.5108G>T (p.Arg1703Leu)
c.5102G>T (p.Arg1701Leu)
c.5081G>T (p.Arg1694Leu)
c.3992G>T (p.Arg1331Leu)
c.5090G>T (p.Arg1697Leu)
n.972G>T
11g.70473302C=CA1981067991SHANK2c.3350G= (p.Arg1117=)
c.895G= (n.895G=)
c.5117G= (p.Arg1706=)
c.2626G=
c.3980G= (p.Arg1327=)
c.3407G= (p.Arg1136=)
c.3353G= (p.Arg1118=)
c.*121G= (n.*121G=)
c.3329G= (p.Arg1110=)
c.893G=
c.2954G= (p.Arg985=)
n.1869G=
n.971G=
c.5087G= (p.Arg1696=)
c.5129G= (p.Arg1710=)
c.5108G= (p.Arg1703=)
c.5102G= (p.Arg1701=)
c.5081G= (p.Arg1694=)
c.3992G= (p.Arg1331=)
c.5090G= (p.Arg1697=)
n.972G=
11g.70473302C>GCA381676356SHANK2c.3350G>C (p.Arg1117Pro)
c.895G>C (n.895G>C)
c.5117G>C (p.Arg1706Pro)
c.2626G>C
c.3980G>C (p.Arg1327Pro)
c.3407G>C (p.Arg1136Pro)
c.3353G>C (p.Arg1118Pro)
c.*121G>C (n.*121G>C)
c.3329G>C (p.Arg1110Pro)
c.893G>C
c.2954G>C (p.Arg985Pro)
n.1869G>C
n.971G>C
c.5087G>C (p.Arg1696Pro)
c.5129G>C (p.Arg1710Pro)
c.5108G>C (p.Arg1703Pro)
c.5102G>C (p.Arg1701Pro)
c.5081G>C (p.Arg1694Pro)
c.3992G>C (p.Arg1331Pro)
c.5090G>C (p.Arg1697Pro)
n.972G>C
11g.70473302C>TCA6160766SHANK2c.3350G>A (p.Arg1117His)
c.895G>A (n.895G>A)
c.5117G>A (p.Arg1706His)
c.2626G>A
c.3980G>A (p.Arg1327His)
c.3407G>A (p.Arg1136His)
c.3353G>A (p.Arg1118His)
c.*121G>A (n.*121G>A)
c.3329G>A (p.Arg1110His)
c.893G>A
c.2954G>A (p.Arg985His)
n.1869G>A
n.971G>A
c.5087G>A (p.Arg1696His)
c.5129G>A (p.Arg1710His)
c.5108G>A (p.Arg1703His)
c.5102G>A (p.Arg1701His)
c.5081G>A (p.Arg1694His)
c.3992G>A (p.Arg1331His)
c.5090G>A (p.Arg1697His)
n.972G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473303G>ACA6160767SHANK2c.3349C>T (p.Arg1117Cys)
c.894C>T (n.894C>T)
c.5116C>T (p.Arg1706Cys)
c.2625C>T
c.3979C>T (p.Arg1327Cys)
c.3406C>T (p.Arg1136Cys)
c.3352C>T (p.Arg1118Cys)
c.*120C>T (n.*120C>T)
c.3328C>T (p.Arg1110Cys)
c.892C>T
c.2953C>T (p.Arg985Cys)
n.1868C>T
n.970C>T
c.5086C>T (p.Arg1696Cys)
c.5128C>T (p.Arg1710Cys)
c.5107C>T (p.Arg1703Cys)
c.5101C>T (p.Arg1701Cys)
c.5080C>T (p.Arg1694Cys)
c.3991C>T (p.Arg1331Cys)
c.5089C>T (p.Arg1697Cys)
n.971C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.70473303G>CCA381676357SHANK2c.3349C>G (p.Arg1117Gly)
c.894C>G (n.894C>G)
c.5116C>G (p.Arg1706Gly)
c.2625C>G
c.3979C>G (p.Arg1327Gly)
c.3406C>G (p.Arg1136Gly)
c.3352C>G (p.Arg1118Gly)
c.*120C>G (n.*120C>G)
c.3328C>G (p.Arg1110Gly)
c.892C>G
c.2953C>G (p.Arg985Gly)
n.1868C>G
n.970C>G
c.5086C>G (p.Arg1696Gly)
c.5128C>G (p.Arg1710Gly)
c.5107C>G (p.Arg1703Gly)
c.5101C>G (p.Arg1701Gly)
c.5080C>G (p.Arg1694Gly)
c.3991C>G (p.Arg1331Gly)
c.5089C>G (p.Arg1697Gly)
n.971C>G
11g.70473303G=CA1981067992SHANK2c.3349C= (p.Arg1117=)
c.894C= (n.894C=)
c.5116C= (p.Arg1706=)
c.2625C=
c.3979C= (p.Arg1327=)
c.3406C= (p.Arg1136=)
c.3352C= (p.Arg1118=)
c.*120C= (n.*120C=)
c.3328C= (p.Arg1110=)
c.892C=
c.2953C= (p.Arg985=)
n.1868C=
n.970C=
c.5086C= (p.Arg1696=)
c.5128C= (p.Arg1710=)
c.5107C= (p.Arg1703=)
c.5101C= (p.Arg1701=)
c.5080C= (p.Arg1694=)
c.3991C= (p.Arg1331=)
c.5089C= (p.Arg1697=)
n.971C=
11g.70473303G>TCA6160768SHANK2c.3349C>A (p.Arg1117Ser)
c.894C>A (n.894C>A)
c.5116C>A (p.Arg1706Ser)
c.2625C>A
c.3979C>A (p.Arg1327Ser)
c.3406C>A (p.Arg1136Ser)
c.3352C>A (p.Arg1118Ser)
c.*120C>A (n.*120C>A)
c.3328C>A (p.Arg1110Ser)
c.892C>A
c.2953C>A (p.Arg985Ser)
n.1868C>A
n.970C>A
c.5086C>A (p.Arg1696Ser)
c.5128C>A (p.Arg1710Ser)
c.5107C>A (p.Arg1703Ser)
c.5101C>A (p.Arg1701Ser)
c.5080C>A (p.Arg1694Ser)
c.3991C>A (p.Arg1331Ser)
c.5089C>A (p.Arg1697Ser)
n.971C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473304T>ACA381676358SHANK2c.3348A>T (p.Arg1116Ser)
c.893A>T (n.893A>T)
c.5115A>T (p.Arg1705Ser)
c.2624A>T
c.3978A>T (p.Arg1326Ser)
c.3405A>T (p.Arg1135Ser)
c.3351A>T (p.Arg1117Ser)
c.*119A>T (n.*119A>T)
c.3327A>T (p.Arg1109Ser)
c.891A>T
c.2952A>T (p.Arg984Ser)
n.1867A>T
n.969A>T
c.5085A>T (p.Arg1695Ser)
c.5127A>T (p.Arg1709Ser)
c.5106A>T (p.Arg1702Ser)
c.5100A>T (p.Arg1700Ser)
c.5079A>T (p.Arg1693Ser)
c.3990A>T (p.Arg1330Ser)
c.5088A>T (p.Arg1696Ser)
n.970A>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473304T>CCA475470734SHANK2c.3348A>G (p.Arg1116=)
c.893A>G (n.893A>G)
c.5115A>G (p.Arg1705=)
c.2624A>G
c.3978A>G (p.Arg1326=)
c.3405A>G (p.Arg1135=)
c.3351A>G (p.Arg1117=)
c.*119A>G (n.*119A>G)
c.3327A>G (p.Arg1109=)
c.891A>G
c.2952A>G (p.Arg984=)
n.1867A>G
n.969A>G
c.5085A>G (p.Arg1695=)
c.5127A>G (p.Arg1709=)
c.5106A>G (p.Arg1702=)
c.5100A>G (p.Arg1700=)
c.5079A>G (p.Arg1693=)
c.3990A>G (p.Arg1330=)
c.5088A>G (p.Arg1696=)
n.970A>G
11g.70473304T>GCA381676359SHANK2c.3348A>C (p.Arg1116Ser)
c.893A>C (n.893A>C)
c.5115A>C (p.Arg1705Ser)
c.2624A>C
c.3978A>C (p.Arg1326Ser)
c.3405A>C (p.Arg1135Ser)
c.3351A>C (p.Arg1117Ser)
c.*119A>C (n.*119A>C)
c.3327A>C (p.Arg1109Ser)
c.891A>C
c.2952A>C (p.Arg984Ser)
n.1867A>C
n.969A>C
c.5085A>C (p.Arg1695Ser)
c.5127A>C (p.Arg1709Ser)
c.5106A>C (p.Arg1702Ser)
c.5100A>C (p.Arg1700Ser)
c.5079A>C (p.Arg1693Ser)
c.3990A>C (p.Arg1330Ser)
c.5088A>C (p.Arg1696Ser)
n.970A>C
11g.70473304T=CA1981067993SHANK2c.3348A= (p.Arg1116=)
c.893A= (n.893A=)
c.5115A= (p.Arg1705=)
c.2624A=
c.3978A= (p.Arg1326=)
c.3405A= (p.Arg1135=)
c.3351A= (p.Arg1117=)
c.*119A= (n.*119A=)
c.3327A= (p.Arg1109=)
c.891A=
c.2952A= (p.Arg984=)
n.1867A=
n.969A=
c.5085A= (p.Arg1695=)
c.5127A= (p.Arg1709=)
c.5106A= (p.Arg1702=)
c.5100A= (p.Arg1700=)
c.5079A= (p.Arg1693=)
c.3990A= (p.Arg1330=)
c.5088A= (p.Arg1696=)
n.970A=
11g.70473305C>ACA381676362SHANK2c.3347G>T (p.Arg1116Ile)
c.892G>T (n.892G>T)
c.5114G>T (p.Arg1705Ile)
c.2623G>T
c.3977G>T (p.Arg1326Ile)
c.3404G>T (p.Arg1135Ile)
c.3350G>T (p.Arg1117Ile)
c.*118G>T (n.*118G>T)
c.3326G>T (p.Arg1109Ile)
c.890G>T
c.2951G>T (p.Arg984Ile)
n.1866G>T
n.968G>T
c.5084G>T (p.Arg1695Ile)
c.5126G>T (p.Arg1709Ile)
c.5105G>T (p.Arg1702Ile)
c.5099G>T (p.Arg1700Ile)
c.5078G>T (p.Arg1693Ile)
c.3989G>T (p.Arg1330Ile)
c.5087G>T (p.Arg1696Ile)
n.969G>T
11g.70473305C>GCA381676360SHANK2c.3347G>C (p.Arg1116Thr)
c.892G>C (n.892G>C)
c.5114G>C (p.Arg1705Thr)
c.2623G>C
c.3977G>C (p.Arg1326Thr)
c.3404G>C (p.Arg1135Thr)
c.3350G>C (p.Arg1117Thr)
c.*118G>C (n.*118G>C)
c.3326G>C (p.Arg1109Thr)
c.890G>C
c.2951G>C (p.Arg984Thr)
n.1866G>C
n.968G>C
c.5084G>C (p.Arg1695Thr)
c.5126G>C (p.Arg1709Thr)
c.5105G>C (p.Arg1702Thr)
c.5099G>C (p.Arg1700Thr)
c.5078G>C (p.Arg1693Thr)
c.3989G>C (p.Arg1330Thr)
c.5087G>C (p.Arg1696Thr)
n.969G>C
11g.70473305C>TCA381676361SHANK2c.3347G>A (p.Arg1116Lys)
c.892G>A (n.892G>A)
c.5114G>A (p.Arg1705Lys)
c.2623G>A
c.3977G>A (p.Arg1326Lys)
c.3404G>A (p.Arg1135Lys)
c.3350G>A (p.Arg1117Lys)
c.*118G>A (n.*118G>A)
c.3326G>A (p.Arg1109Lys)
c.890G>A
c.2951G>A (p.Arg984Lys)
n.1866G>A
n.968G>A
c.5084G>A (p.Arg1695Lys)
c.5126G>A (p.Arg1709Lys)
c.5105G>A (p.Arg1702Lys)
c.5099G>A (p.Arg1700Lys)
c.5078G>A (p.Arg1693Lys)
c.3989G>A (p.Arg1330Lys)
c.5087G>A (p.Arg1696Lys)
n.969G>A
11g.70473306T>ACA381676363SHANK2c.3346A>T (p.Arg1116Ter)
c.891A>T (n.891A>T)
c.5113A>T (p.Arg1705Ter)
c.2622A>T
c.3976A>T (p.Arg1326Ter)
c.3403A>T (p.Arg1135Ter)
c.3349A>T (p.Arg1117Ter)
c.*117A>T (n.*117A>T)
c.3325A>T (p.Arg1109Ter)
c.889A>T
c.2950A>T (p.Arg984Ter)
n.1865A>T
n.967A>T
c.5083A>T (p.Arg1695Ter)
c.5125A>T (p.Arg1709Ter)
c.5104A>T (p.Arg1702Ter)
c.5098A>T (p.Arg1700Ter)
c.5077A>T (p.Arg1693Ter)
c.3988A>T (p.Arg1330Ter)
c.5086A>T (p.Arg1696Ter)
n.968A>T
11g.70473306T>CCA381676364SHANK2c.3346A>G (p.Arg1116Gly)
c.891A>G (n.891A>G)
c.5113A>G (p.Arg1705Gly)
c.2622A>G
c.3976A>G (p.Arg1326Gly)
c.3403A>G (p.Arg1135Gly)
c.3349A>G (p.Arg1117Gly)
c.*117A>G (n.*117A>G)
c.3325A>G (p.Arg1109Gly)
c.889A>G
c.2950A>G (p.Arg984Gly)
n.1865A>G
n.967A>G
c.5083A>G (p.Arg1695Gly)
c.5125A>G (p.Arg1709Gly)
c.5104A>G (p.Arg1702Gly)
c.5098A>G (p.Arg1700Gly)
c.5077A>G (p.Arg1693Gly)
c.3988A>G (p.Arg1330Gly)
c.5086A>G (p.Arg1696Gly)
n.968A>G
 gnomAD v4
11g.70473306T>GCA475470735SHANK2c.3346A>C (p.Arg1116=)
c.891A>C (n.891A>C)
c.5113A>C (p.Arg1705=)
c.2622A>C
c.3976A>C (p.Arg1326=)
c.3403A>C (p.Arg1135=)
c.3349A>C (p.Arg1117=)
c.*117A>C (n.*117A>C)
c.3325A>C (p.Arg1109=)
c.889A>C
c.2950A>C (p.Arg984=)
n.1865A>C
n.967A>C
c.5083A>C (p.Arg1695=)
c.5125A>C (p.Arg1709=)
c.5104A>C (p.Arg1702=)
c.5098A>C (p.Arg1700=)
c.5077A>C (p.Arg1693=)
c.3988A>C (p.Arg1330=)
c.5086A>C (p.Arg1696=)
n.968A>C
11g.70473307T>ACA475470738SHANK2c.3345A>T (p.Thr1115=)
c.890A>T (n.890A>T)
c.5112A>T (p.Thr1704=)
c.2621A>T
c.3975A>T (p.Thr1325=)
c.3402A>T (p.Thr1134=)
c.3348A>T (p.Thr1116=)
c.*116A>T (n.*116A>T)
c.3324A>T (p.Thr1108=)
c.888A>T
c.2949A>T (p.Thr983=)
n.1864A>T
n.966A>T
c.5082A>T (p.Thr1694=)
c.5124A>T (p.Thr1708=)
c.5103A>T (p.Thr1701=)
c.5097A>T (p.Thr1699=)
c.5076A>T (p.Thr1692=)
c.3987A>T (p.Thr1329=)
c.5085A>T (p.Thr1695=)
n.967A>T
11g.70473307T>CCA475470737SHANK2c.3345A>G (p.Thr1115=)
c.890A>G (n.890A>G)
c.5112A>G (p.Thr1704=)
c.2621A>G
c.3975A>G (p.Thr1325=)
c.3402A>G (p.Thr1134=)
c.3348A>G (p.Thr1116=)
c.*116A>G (n.*116A>G)
c.3324A>G (p.Thr1108=)
c.888A>G
c.2949A>G (p.Thr983=)
n.1864A>G
n.966A>G
c.5082A>G (p.Thr1694=)
c.5124A>G (p.Thr1708=)
c.5103A>G (p.Thr1701=)
c.5097A>G (p.Thr1699=)
c.5076A>G (p.Thr1692=)
c.3987A>G (p.Thr1329=)
c.5085A>G (p.Thr1695=)
n.967A>G
11g.70473307T>GCA475470736SHANK2c.3345A>C (p.Thr1115=)
c.890A>C (n.890A>C)
c.5112A>C (p.Thr1704=)
c.2621A>C
c.3975A>C (p.Thr1325=)
c.3402A>C (p.Thr1134=)
c.3348A>C (p.Thr1116=)
c.*116A>C (n.*116A>C)
c.3324A>C (p.Thr1108=)
c.888A>C
c.2949A>C (p.Thr983=)
n.1864A>C
n.966A>C
c.5082A>C (p.Thr1694=)
c.5124A>C (p.Thr1708=)
c.5103A>C (p.Thr1701=)
c.5097A>C (p.Thr1699=)
c.5076A>C (p.Thr1692=)
c.3987A>C (p.Thr1329=)
c.5085A>C (p.Thr1695=)
n.967A>C
11g.70473308G>ACA381676365SHANK2c.3344C>T (p.Thr1115Ile)
c.889C>T (n.889C>T)
c.5111C>T (p.Thr1704Ile)
c.2620C>T
c.3974C>T (p.Thr1325Ile)
c.3401C>T (p.Thr1134Ile)
c.3347C>T (p.Thr1116Ile)
c.*115C>T (n.*115C>T)
c.3323C>T (p.Thr1108Ile)
c.887C>T
c.2948C>T (p.Thr983Ile)
n.1863C>T
n.965C>T
c.5081C>T (p.Thr1694Ile)
c.5123C>T (p.Thr1708Ile)
c.5102C>T (p.Thr1701Ile)
c.5096C>T (p.Thr1699Ile)
c.5075C>T (p.Thr1692Ile)
c.3986C>T (p.Thr1329Ile)
c.5084C>T (p.Thr1695Ile)
n.966C>T
 gnomAD v4
11g.70473308G>CCA381676366SHANK2c.3344C>G (p.Thr1115Arg)
c.889C>G (n.889C>G)
c.5111C>G (p.Thr1704Arg)
c.2620C>G
c.3974C>G (p.Thr1325Arg)
c.3401C>G (p.Thr1134Arg)
c.3347C>G (p.Thr1116Arg)
c.*115C>G (n.*115C>G)
c.3323C>G (p.Thr1108Arg)
c.887C>G
c.2948C>G (p.Thr983Arg)
n.1863C>G
n.965C>G
c.5081C>G (p.Thr1694Arg)
c.5123C>G (p.Thr1708Arg)
c.5102C>G (p.Thr1701Arg)
c.5096C>G (p.Thr1699Arg)
c.5075C>G (p.Thr1692Arg)
c.3986C>G (p.Thr1329Arg)
c.5084C>G (p.Thr1695Arg)
n.966C>G
11g.70473308G>TCA381676367SHANK2c.3344C>A (p.Thr1115Lys)
c.889C>A (n.889C>A)
c.5111C>A (p.Thr1704Lys)
c.2620C>A
c.3974C>A (p.Thr1325Lys)
c.3401C>A (p.Thr1134Lys)
c.3347C>A (p.Thr1116Lys)
c.*115C>A (n.*115C>A)
c.3323C>A (p.Thr1108Lys)
c.887C>A
c.2948C>A (p.Thr983Lys)
n.1863C>A
n.965C>A
c.5081C>A (p.Thr1694Lys)
c.5123C>A (p.Thr1708Lys)
c.5102C>A (p.Thr1701Lys)
c.5096C>A (p.Thr1699Lys)
c.5075C>A (p.Thr1692Lys)
c.3986C>A (p.Thr1329Lys)
c.5084C>A (p.Thr1695Lys)
n.966C>A
11g.70473309T>ACA381676370SHANK2c.3343A>T (p.Thr1115Ser)
c.888A>T (n.888A>T)
c.5110A>T (p.Thr1704Ser)
c.2619A>T
c.3973A>T (p.Thr1325Ser)
c.3400A>T (p.Thr1134Ser)
c.3346A>T (p.Thr1116Ser)
c.*114A>T (n.*114A>T)
c.3322A>T (p.Thr1108Ser)
c.886A>T
c.2947A>T (p.Thr983Ser)
n.1862A>T
n.964A>T
c.5080A>T (p.Thr1694Ser)
c.5122A>T (p.Thr1708Ser)
c.5101A>T (p.Thr1701Ser)
c.5095A>T (p.Thr1699Ser)
c.5074A>T (p.Thr1692Ser)
c.3985A>T (p.Thr1329Ser)
c.5083A>T (p.Thr1695Ser)
n.965A>T
11g.70473309T>CCA381676369SHANK2c.3343A>G (p.Thr1115Ala)
c.888A>G (n.888A>G)
c.5110A>G (p.Thr1704Ala)
c.2619A>G
c.3973A>G (p.Thr1325Ala)
c.3400A>G (p.Thr1134Ala)
c.3346A>G (p.Thr1116Ala)
c.*114A>G (n.*114A>G)
c.3322A>G (p.Thr1108Ala)
c.886A>G
c.2947A>G (p.Thr983Ala)
n.1862A>G
n.964A>G
c.5080A>G (p.Thr1694Ala)
c.5122A>G (p.Thr1708Ala)
c.5101A>G (p.Thr1701Ala)
c.5095A>G (p.Thr1699Ala)
c.5074A>G (p.Thr1692Ala)
c.3985A>G (p.Thr1329Ala)
c.5083A>G (p.Thr1695Ala)
n.965A>G
 gnomAD v4
11g.70473309T>GCA381676368SHANK2c.3343A>C (p.Thr1115Pro)
c.888A>C (n.888A>C)
c.5110A>C (p.Thr1704Pro)
c.2619A>C
c.3973A>C (p.Thr1325Pro)
c.3400A>C (p.Thr1134Pro)
c.3346A>C (p.Thr1116Pro)
c.*114A>C (n.*114A>C)
c.3322A>C (p.Thr1108Pro)
c.886A>C
c.2947A>C (p.Thr983Pro)
n.1862A>C
n.964A>C
c.5080A>C (p.Thr1694Pro)
c.5122A>C (p.Thr1708Pro)
c.5101A>C (p.Thr1701Pro)
c.5095A>C (p.Thr1699Pro)
c.5074A>C (p.Thr1692Pro)
c.3985A>C (p.Thr1329Pro)
c.5083A>C (p.Thr1695Pro)
n.965A>C
11g.70473310T>ACA475470739SHANK2c.3342A>T (p.Gly1114=)
c.887A>T (n.887A>T)
c.5109A>T (p.Gly1703=)
c.2618A>T
c.3972A>T (p.Gly1324=)
c.3399A>T (p.Gly1133=)
c.3345A>T (p.Gly1115=)
c.*113A>T (n.*113A>T)
c.3321A>T (p.Gly1107=)
c.885A>T
c.2946A>T (p.Gly982=)
n.1861A>T
n.963A>T
c.5079A>T (p.Gly1693=)
c.5121A>T (p.Gly1707=)
c.5100A>T (p.Gly1700=)
c.5094A>T (p.Gly1698=)
c.5073A>T (p.Gly1691=)
c.3984A>T (p.Gly1328=)
c.5082A>T (p.Gly1694=)
n.964A>T
11g.70473310T>CCA475470740SHANK2c.3342A>G (p.Gly1114=)
c.887A>G (n.887A>G)
c.5109A>G (p.Gly1703=)
c.2618A>G
c.3972A>G (p.Gly1324=)
c.3399A>G (p.Gly1133=)
c.3345A>G (p.Gly1115=)
c.*113A>G (n.*113A>G)
c.3321A>G (p.Gly1107=)
c.885A>G
c.2946A>G (p.Gly982=)
n.1861A>G
n.963A>G
c.5079A>G (p.Gly1693=)
c.5121A>G (p.Gly1707=)
c.5100A>G (p.Gly1700=)
c.5094A>G (p.Gly1698=)
c.5073A>G (p.Gly1691=)
c.3984A>G (p.Gly1328=)
c.5082A>G (p.Gly1694=)
n.964A>G
11g.70473310T>GCA475470741SHANK2c.3342A>C (p.Gly1114=)
c.887A>C (n.887A>C)
c.5109A>C (p.Gly1703=)
c.2618A>C
c.3972A>C (p.Gly1324=)
c.3399A>C (p.Gly1133=)
c.3345A>C (p.Gly1115=)
c.*113A>C (n.*113A>C)
c.3321A>C (p.Gly1107=)
c.885A>C
c.2946A>C (p.Gly982=)
n.1861A>C
n.963A>C
c.5079A>C (p.Gly1693=)
c.5121A>C (p.Gly1707=)
c.5100A>C (p.Gly1700=)
c.5094A>C (p.Gly1698=)
c.5073A>C (p.Gly1691=)
c.3984A>C (p.Gly1328=)
c.5082A>C (p.Gly1694=)
n.964A>C
11g.70473311C>ACA381676371SHANK2c.3341G>T (p.Gly1114Val)
c.886G>T (n.886G>T)
c.5108G>T (p.Gly1703Val)
c.2617G>T
c.3971G>T (p.Gly1324Val)
c.3398G>T (p.Gly1133Val)
c.3344G>T (p.Gly1115Val)
c.*112G>T (n.*112G>T)
c.3320G>T (p.Gly1107Val)
c.884G>T
c.2945G>T (p.Gly982Val)
n.1860G>T
n.962G>T
c.5078G>T (p.Gly1693Val)
c.5120G>T (p.Gly1707Val)
c.5099G>T (p.Gly1700Val)
c.5093G>T (p.Gly1698Val)
c.5072G>T (p.Gly1691Val)
c.3983G>T (p.Gly1328Val)
c.5081G>T (p.Gly1694Val)
n.963G>T
11g.70473311C>GCA381676373SHANK2c.3341G>C (p.Gly1114Ala)
c.886G>C (n.886G>C)
c.5108G>C (p.Gly1703Ala)
c.2617G>C
c.3971G>C (p.Gly1324Ala)
c.3398G>C (p.Gly1133Ala)
c.3344G>C (p.Gly1115Ala)
c.*112G>C (n.*112G>C)
c.3320G>C (p.Gly1107Ala)
c.884G>C
c.2945G>C (p.Gly982Ala)
n.1860G>C
n.962G>C
c.5078G>C (p.Gly1693Ala)
c.5120G>C (p.Gly1707Ala)
c.5099G>C (p.Gly1700Ala)
c.5093G>C (p.Gly1698Ala)
c.5072G>C (p.Gly1691Ala)
c.3983G>C (p.Gly1328Ala)
c.5081G>C (p.Gly1694Ala)
n.963G>C
 gnomAD v4
11g.70473311C>TCA381676372SHANK2c.3341G>A (p.Gly1114Glu)
c.886G>A (n.886G>A)
c.5108G>A (p.Gly1703Glu)
c.2617G>A
c.3971G>A (p.Gly1324Glu)
c.3398G>A (p.Gly1133Glu)
c.3344G>A (p.Gly1115Glu)
c.*112G>A (n.*112G>A)
c.3320G>A (p.Gly1107Glu)
c.884G>A
c.2945G>A (p.Gly982Glu)
n.1860G>A
n.962G>A
c.5078G>A (p.Gly1693Glu)
c.5120G>A (p.Gly1707Glu)
c.5099G>A (p.Gly1700Glu)
c.5093G>A (p.Gly1698Glu)
c.5072G>A (p.Gly1691Glu)
c.3983G>A (p.Gly1328Glu)
c.5081G>A (p.Gly1694Glu)
n.963G>A
11g.70473312C>ACA381676374SHANK2c.3340G>T (p.Gly1114Ter)
c.885G>T (n.885G>T)
c.5107G>T (p.Gly1703Ter)
c.2616G>T
c.3970G>T (p.Gly1324Ter)
c.3397G>T (p.Gly1133Ter)
c.3343G>T (p.Gly1115Ter)
c.*111G>T (n.*111G>T)
c.3319G>T (p.Gly1107Ter)
c.883G>T
c.2944G>T (p.Gly982Ter)
n.1859G>T
n.961G>T
c.5077G>T (p.Gly1693Ter)
c.5119G>T (p.Gly1707Ter)
c.5098G>T (p.Gly1700Ter)
c.5092G>T (p.Gly1698Ter)
c.5071G>T (p.Gly1691Ter)
c.3982G>T (p.Gly1328Ter)
c.5080G>T (p.Gly1694Ter)
n.962G>T
11g.70473312C>GCA381676376SHANK2c.3340G>C (p.Gly1114Arg)
c.885G>C (n.885G>C)
c.5107G>C (p.Gly1703Arg)
c.2616G>C
c.3970G>C (p.Gly1324Arg)
c.3397G>C (p.Gly1133Arg)
c.3343G>C (p.Gly1115Arg)
c.*111G>C (n.*111G>C)
c.3319G>C (p.Gly1107Arg)
c.883G>C
c.2944G>C (p.Gly982Arg)
n.1859G>C
n.961G>C
c.5077G>C (p.Gly1693Arg)
c.5119G>C (p.Gly1707Arg)
c.5098G>C (p.Gly1700Arg)
c.5092G>C (p.Gly1698Arg)
c.5071G>C (p.Gly1691Arg)
c.3982G>C (p.Gly1328Arg)
c.5080G>C (p.Gly1694Arg)
n.962G>C
11g.70473312C>TCA381676375SHANK2c.3340G>A (p.Gly1114Arg)
c.885G>A (n.885G>A)
c.5107G>A (p.Gly1703Arg)
c.2616G>A
c.3970G>A (p.Gly1324Arg)
c.3397G>A (p.Gly1133Arg)
c.3343G>A (p.Gly1115Arg)
c.*111G>A (n.*111G>A)
c.3319G>A (p.Gly1107Arg)
c.883G>A
c.2944G>A (p.Gly982Arg)
n.1859G>A
n.961G>A
c.5077G>A (p.Gly1693Arg)
c.5119G>A (p.Gly1707Arg)
c.5098G>A (p.Gly1700Arg)
c.5092G>A (p.Gly1698Arg)
c.5071G>A (p.Gly1691Arg)
c.3982G>A (p.Gly1328Arg)
c.5080G>A (p.Gly1694Arg)
n.962G>A
11g.70473313T>ACA475470742SHANK2c.3339A>T (p.Ser1113=)
c.884A>T (n.884A>T)
c.5106A>T (p.Ser1702=)
c.2615A>T
c.3969A>T (p.Ser1323=)
c.3396A>T (p.Ser1132=)
c.3342A>T (p.Ser1114=)
c.*110A>T (n.*110A>T)
c.3318A>T (p.Ser1106=)
c.882A>T
c.2943A>T (p.Ser981=)
n.1858A>T
n.960A>T
c.5076A>T (p.Ser1692=)
c.5118A>T (p.Ser1706=)
c.5097A>T (p.Ser1699=)
c.5091A>T (p.Ser1697=)
c.5070A>T (p.Ser1690=)
c.3981A>T (p.Ser1327=)
c.5079A>T (p.Ser1693=)
n.961A>T
11g.70473313T>CCA475470744SHANK2c.3339A>G (p.Ser1113=)
c.884A>G (n.884A>G)
c.5106A>G (p.Ser1702=)
c.2615A>G
c.3969A>G (p.Ser1323=)
c.3396A>G (p.Ser1132=)
c.3342A>G (p.Ser1114=)
c.*110A>G (n.*110A>G)
c.3318A>G (p.Ser1106=)
c.882A>G
c.2943A>G (p.Ser981=)
n.1858A>G
n.960A>G
c.5076A>G (p.Ser1692=)
c.5118A>G (p.Ser1706=)
c.5097A>G (p.Ser1699=)
c.5091A>G (p.Ser1697=)
c.5070A>G (p.Ser1690=)
c.3981A>G (p.Ser1327=)
c.5079A>G (p.Ser1693=)
n.961A>G
11g.70473313T>GCA475470743SHANK2c.3339A>C (p.Ser1113=)
c.884A>C (n.884A>C)
c.5106A>C (p.Ser1702=)
c.2615A>C
c.3969A>C (p.Ser1323=)
c.3396A>C (p.Ser1132=)
c.3342A>C (p.Ser1114=)
c.*110A>C (n.*110A>C)
c.3318A>C (p.Ser1106=)
c.882A>C
c.2943A>C (p.Ser981=)
n.1858A>C
n.960A>C
c.5076A>C (p.Ser1692=)
c.5118A>C (p.Ser1706=)
c.5097A>C (p.Ser1699=)
c.5091A>C (p.Ser1697=)
c.5070A>C (p.Ser1690=)
c.3981A>C (p.Ser1327=)
c.5079A>C (p.Ser1693=)
n.961A>C
11g.70473314G>ACA381676377SHANK2c.3338C>T (p.Ser1113Leu)
c.883C>T (n.883C>T)
c.5105C>T (p.Ser1702Leu)
c.2614C>T
c.3968C>T (p.Ser1323Leu)
c.3395C>T (p.Ser1132Leu)
c.3341C>T (p.Ser1114Leu)
c.*109C>T (n.*109C>T)
c.3317C>T (p.Ser1106Leu)
c.881C>T
c.2942C>T (p.Ser981Leu)
n.1857C>T
n.959C>T
c.5075C>T (p.Ser1692Leu)
c.5117C>T (p.Ser1706Leu)
c.5096C>T (p.Ser1699Leu)
c.5090C>T (p.Ser1697Leu)
c.5069C>T (p.Ser1690Leu)
c.3980C>T (p.Ser1327Leu)
c.5078C>T (p.Ser1693Leu)
n.960C>T
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
11g.70473314G>CCA381676379SHANK2c.3338C>G (p.Ser1113Ter)
c.883C>G (n.883C>G)
c.5105C>G (p.Ser1702Ter)
c.2614C>G
c.3968C>G (p.Ser1323Ter)
c.3395C>G (p.Ser1132Ter)
c.3341C>G (p.Ser1114Ter)
c.*109C>G (n.*109C>G)
c.3317C>G (p.Ser1106Ter)
c.881C>G
c.2942C>G (p.Ser981Ter)
n.1857C>G
n.959C>G
c.5075C>G (p.Ser1692Ter)
c.5117C>G (p.Ser1706Ter)
c.5096C>G (p.Ser1699Ter)
c.5090C>G (p.Ser1697Ter)
c.5069C>G (p.Ser1690Ter)
c.3980C>G (p.Ser1327Ter)
c.5078C>G (p.Ser1693Ter)
n.960C>G
11g.70473314G=CA1981067994SHANK2c.3338C= (p.Ser1113=)
c.883C= (n.883C=)
c.5105C= (p.Ser1702=)
c.2614C=
c.3968C= (p.Ser1323=)
c.3395C= (p.Ser1132=)
c.3341C= (p.Ser1114=)
c.*109C= (n.*109C=)
c.3317C= (p.Ser1106=)
c.881C=
c.2942C= (p.Ser981=)
n.1857C=
n.959C=
c.5075C= (p.Ser1692=)
c.5117C= (p.Ser1706=)
c.5096C= (p.Ser1699=)
c.5090C= (p.Ser1697=)
c.5069C= (p.Ser1690=)
c.3980C= (p.Ser1327=)
c.5078C= (p.Ser1693=)
n.960C=
11g.70473314G>TCA381676378SHANK2c.3338C>A (p.Ser1113Ter)
c.883C>A (n.883C>A)
c.5105C>A (p.Ser1702Ter)
c.2614C>A
c.3968C>A (p.Ser1323Ter)
c.3395C>A (p.Ser1132Ter)
c.3341C>A (p.Ser1114Ter)
c.*109C>A (n.*109C>A)
c.3317C>A (p.Ser1106Ter)
c.881C>A
c.2942C>A (p.Ser981Ter)
n.1857C>A
n.959C>A
c.5075C>A (p.Ser1692Ter)
c.5117C>A (p.Ser1706Ter)
c.5096C>A (p.Ser1699Ter)
c.5090C>A (p.Ser1697Ter)
c.5069C>A (p.Ser1690Ter)
c.3980C>A (p.Ser1327Ter)
c.5078C>A (p.Ser1693Ter)
n.960C>A
11g.70473315A=CA1981067995SHANK2c.3337T= (p.Ser1113=)
c.882T= (n.882T=)
c.5104T= (p.Ser1702=)
c.2613T=
c.3967T= (p.Ser1323=)
c.3394T= (p.Ser1132=)
c.3340T= (p.Ser1114=)
c.*108T= (n.*108T=)
c.3316T= (p.Ser1106=)
c.880T=
c.2941T= (p.Ser981=)
n.1856T=
n.958T=
c.5074T= (p.Ser1692=)
c.5116T= (p.Ser1706=)
c.5095T= (p.Ser1699=)
c.5089T= (p.Ser1697=)
c.5068T= (p.Ser1690=)
c.3979T= (p.Ser1327=)
c.5077T= (p.Ser1693=)
n.959T=
11g.70473315A>CCA381676380SHANK2c.3337T>G (p.Ser1113Ala)
c.882T>G (n.882T>G)
c.5104T>G (p.Ser1702Ala)
c.2613T>G
c.3967T>G (p.Ser1323Ala)
c.3394T>G (p.Ser1132Ala)
c.3340T>G (p.Ser1114Ala)
c.*108T>G (n.*108T>G)
c.3316T>G (p.Ser1106Ala)
c.880T>G
c.2941T>G (p.Ser981Ala)
n.1856T>G
n.958T>G
c.5074T>G (p.Ser1692Ala)
c.5116T>G (p.Ser1706Ala)
c.5095T>G (p.Ser1699Ala)
c.5089T>G (p.Ser1697Ala)
c.5068T>G (p.Ser1690Ala)
c.3979T>G (p.Ser1327Ala)
c.5077T>G (p.Ser1693Ala)
n.959T>G
11g.70473315A>GCA381676381SHANK2c.3337T>C (p.Ser1113Pro)
c.882T>C (n.882T>C)
c.5104T>C (p.Ser1702Pro)
c.2613T>C
c.3967T>C (p.Ser1323Pro)
c.3394T>C (p.Ser1132Pro)
c.3340T>C (p.Ser1114Pro)
c.*108T>C (n.*108T>C)
c.3316T>C (p.Ser1106Pro)
c.880T>C
c.2941T>C (p.Ser981Pro)
n.1856T>C
n.958T>C
c.5074T>C (p.Ser1692Pro)
c.5116T>C (p.Ser1706Pro)
c.5095T>C (p.Ser1699Pro)
c.5089T>C (p.Ser1697Pro)
c.5068T>C (p.Ser1690Pro)
c.3979T>C (p.Ser1327Pro)
c.5077T>C (p.Ser1693Pro)
n.959T>C
11g.70473315A>TCA6160769SHANK2c.3337T>A (p.Ser1113Thr)
c.882T>A (n.882T>A)
c.5104T>A (p.Ser1702Thr)
c.2613T>A
c.3967T>A (p.Ser1323Thr)
c.3394T>A (p.Ser1132Thr)
c.3340T>A (p.Ser1114Thr)
c.*108T>A (n.*108T>A)
c.3316T>A (p.Ser1106Thr)
c.880T>A
c.2941T>A (p.Ser981Thr)
n.1856T>A
n.958T>A
c.5074T>A (p.Ser1692Thr)
c.5116T>A (p.Ser1706Thr)
c.5095T>A (p.Ser1699Thr)
c.5089T>A (p.Ser1697Thr)
c.5068T>A (p.Ser1690Thr)
c.3979T>A (p.Ser1327Thr)
c.5077T>A (p.Ser1693Thr)
n.959T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>ACA6160770SHANK2c.3336C>T (p.Thr1112=)
c.881C>T (n.881C>T)
c.5103C>T (p.Thr1701=)
c.2612C>T
c.3966C>T (p.Thr1322=)
c.3393C>T (p.Thr1131=)
c.3339C>T (p.Thr1113=)
c.*107C>T (n.*107C>T)
c.3315C>T (p.Thr1105=)
c.879C>T
c.2940C>T (p.Thr980=)
n.1855C>T
n.957C>T
c.5073C>T (p.Thr1691=)
c.5115C>T (p.Thr1705=)
c.5094C>T (p.Thr1698=)
c.5088C>T (p.Thr1696=)
c.5067C>T (p.Thr1689=)
c.3978C>T (p.Thr1326=)
c.5076C>T (p.Thr1692=)
n.958C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>CCA475470745SHANK2c.3336C>G (p.Thr1112=)
c.881C>G (n.881C>G)
c.5103C>G (p.Thr1701=)
c.2612C>G
c.3966C>G (p.Thr1322=)
c.3393C>G (p.Thr1131=)
c.3339C>G (p.Thr1113=)
c.*107C>G (n.*107C>G)
c.3315C>G (p.Thr1105=)
c.879C>G
c.2940C>G (p.Thr980=)
n.1855C>G
n.957C>G
c.5073C>G (p.Thr1691=)
c.5115C>G (p.Thr1705=)
c.5094C>G (p.Thr1698=)
c.5088C>G (p.Thr1696=)
c.5067C>G (p.Thr1689=)
c.3978C>G (p.Thr1326=)
c.5076C>G (p.Thr1692=)
n.958C>G
11g.70473316G=CA1981067996SHANK2c.3336C= (p.Thr1112=)
c.881C= (n.881C=)
c.5103C= (p.Thr1701=)
c.2612C=
c.3966C= (p.Thr1322=)
c.3393C= (p.Thr1131=)
c.3339C= (p.Thr1113=)
c.*107C= (n.*107C=)
c.3315C= (p.Thr1105=)
c.879C=
c.2940C= (p.Thr980=)
n.1855C=
n.957C=
c.5073C= (p.Thr1691=)
c.5115C= (p.Thr1705=)
c.5094C= (p.Thr1698=)
c.5088C= (p.Thr1696=)
c.5067C= (p.Thr1689=)
c.3978C= (p.Thr1326=)
c.5076C= (p.Thr1692=)
n.958C=
11g.70473316G>TCA475470746SHANK2c.3336C>A (p.Thr1112=)
c.881C>A (n.881C>A)
c.5103C>A (p.Thr1701=)
c.2612C>A
c.3966C>A (p.Thr1322=)
c.3393C>A (p.Thr1131=)
c.3339C>A (p.Thr1113=)
c.*107C>A (n.*107C>A)
c.3315C>A (p.Thr1105=)
c.879C>A
c.2940C>A (p.Thr980=)
n.1855C>A
n.957C>A
c.5073C>A (p.Thr1691=)
c.5115C>A (p.Thr1705=)
c.5094C>A (p.Thr1698=)
c.5088C>A (p.Thr1696=)
c.5067C>A (p.Thr1689=)
c.3978C>A (p.Thr1326=)
c.5076C>A (p.Thr1692=)
n.958C>A
11g.70473317G>ACA6160771SHANK2c.3335C>T (p.Thr1112Ile)
c.880C>T (n.880C>T)
c.5102C>T (p.Thr1701Ile)
c.2611C>T
c.3965C>T (p.Thr1322Ile)
c.3392C>T (p.Thr1131Ile)
c.3338C>T (p.Thr1113Ile)
c.*106C>T (n.*106C>T)
c.3314C>T (p.Thr1105Ile)
c.878C>T
c.2939C>T (p.Thr980Ile)
n.1854C>T
n.956C>T
c.5072C>T (p.Thr1691Ile)
c.5114C>T (p.Thr1705Ile)
c.5093C>T (p.Thr1698Ile)
c.5087C>T (p.Thr1696Ile)
c.5066C>T (p.Thr1689Ile)
c.3977C>T (p.Thr1326Ile)
c.5075C>T (p.Thr1692Ile)
n.957C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473317G>CCA381676382SHANK2c.3335C>G (p.Thr1112Ser)
c.880C>G (n.880C>G)
c.5102C>G (p.Thr1701Ser)
c.2611C>G
c.3965C>G (p.Thr1322Ser)
c.3392C>G (p.Thr1131Ser)
c.3338C>G (p.Thr1113Ser)
c.*106C>G (n.*106C>G)
c.3314C>G (p.Thr1105Ser)
c.878C>G
c.2939C>G (p.Thr980Ser)
n.1854C>G
n.956C>G
c.5072C>G (p.Thr1691Ser)
c.5114C>G (p.Thr1705Ser)
c.5093C>G (p.Thr1698Ser)
c.5087C>G (p.Thr1696Ser)
c.5066C>G (p.Thr1689Ser)
c.3977C>G (p.Thr1326Ser)
c.5075C>G (p.Thr1692Ser)
n.957C>G
11g.70473317G=CA1981067997SHANK2c.3335C= (p.Thr1112=)
c.880C= (n.880C=)
c.5102C= (p.Thr1701=)
c.2611C=
c.3965C= (p.Thr1322=)
c.3392C= (p.Thr1131=)
c.3338C= (p.Thr1113=)
c.*106C= (n.*106C=)
c.3314C= (p.Thr1105=)
c.878C=
c.2939C= (p.Thr980=)
n.1854C=
n.956C=
c.5072C= (p.Thr1691=)
c.5114C= (p.Thr1705=)
c.5093C= (p.Thr1698=)
c.5087C= (p.Thr1696=)
c.5066C= (p.Thr1689=)
c.3977C= (p.Thr1326=)
c.5075C= (p.Thr1692=)
n.957C=
11g.70473317G>TCA381676383SHANK2c.3335C>A (p.Thr1112Asn)
c.880C>A (n.880C>A)
c.5102C>A (p.Thr1701Asn)
c.2611C>A
c.3965C>A (p.Thr1322Asn)
c.3392C>A (p.Thr1131Asn)
c.3338C>A (p.Thr1113Asn)
c.*106C>A (n.*106C>A)
c.3314C>A (p.Thr1105Asn)
c.878C>A
c.2939C>A (p.Thr980Asn)
n.1854C>A
n.956C>A
c.5072C>A (p.Thr1691Asn)
c.5114C>A (p.Thr1705Asn)
c.5093C>A (p.Thr1698Asn)
c.5087C>A (p.Thr1696Asn)
c.5066C>A (p.Thr1689Asn)
c.3977C>A (p.Thr1326Asn)
c.5075C>A (p.Thr1692Asn)
n.957C>A
11g.70473318T>ACA381676384SHANK2c.3334A>T (p.Thr1112Ser)
c.879A>T (n.879A>T)
c.5101A>T (p.Thr1701Ser)
c.2610A>T
c.3964A>T (p.Thr1322Ser)
c.3391A>T (p.Thr1131Ser)
c.3337A>T (p.Thr1113Ser)
c.*105A>T (n.*105A>T)
c.3313A>T (p.Thr1105Ser)
c.877A>T
c.2938A>T (p.Thr980Ser)
n.1853A>T
n.955A>T
c.5071A>T (p.Thr1691Ser)
c.5113A>T (p.Thr1705Ser)
c.5092A>T (p.Thr1698Ser)
c.5086A>T (p.Thr1696Ser)
c.5065A>T (p.Thr1689Ser)
c.3976A>T (p.Thr1326Ser)
c.5074A>T (p.Thr1692Ser)
n.956A>T
11g.70473318T>CCA381676385SHANK2c.3334A>G (p.Thr1112Ala)
c.879A>G (n.879A>G)
c.5101A>G (p.Thr1701Ala)
c.2610A>G
c.3964A>G (p.Thr1322Ala)
c.3391A>G (p.Thr1131Ala)
c.3337A>G (p.Thr1113Ala)
c.*105A>G (n.*105A>G)
c.3313A>G (p.Thr1105Ala)
c.877A>G
c.2938A>G (p.Thr980Ala)
n.1853A>G
n.955A>G
c.5071A>G (p.Thr1691Ala)
c.5113A>G (p.Thr1705Ala)
c.5092A>G (p.Thr1698Ala)
c.5086A>G (p.Thr1696Ala)
c.5065A>G (p.Thr1689Ala)
c.3976A>G (p.Thr1326Ala)
c.5074A>G (p.Thr1692Ala)
n.956A>G
11g.70473318T>GCA381676386SHANK2c.3334A>C (p.Thr1112Pro)
c.879A>C (n.879A>C)
c.5101A>C (p.Thr1701Pro)
c.2610A>C
c.3964A>C (p.Thr1322Pro)
c.3391A>C (p.Thr1131Pro)
c.3337A>C (p.Thr1113Pro)
c.*105A>C (n.*105A>C)
c.3313A>C (p.Thr1105Pro)
c.877A>C
c.2938A>C (p.Thr980Pro)
n.1853A>C
n.955A>C
c.5071A>C (p.Thr1691Pro)
c.5113A>C (p.Thr1705Pro)
c.5092A>C (p.Thr1698Pro)
c.5086A>C (p.Thr1696Pro)
c.5065A>C (p.Thr1689Pro)
c.3976A>C (p.Thr1326Pro)
c.5074A>C (p.Thr1692Pro)
n.956A>C
11g.70473319C>ACA381676387SHANK2c.3333G>T (p.Arg1111Ser)
c.878G>T (n.878G>T)
c.5100G>T (p.Arg1700Ser)
c.2609G>T
c.3963G>T (p.Arg1321Ser)
c.3390G>T (p.Arg1130Ser)
c.3336G>T (p.Arg1112Ser)
c.*104G>T (n.*104G>T)
c.3312G>T (p.Arg1104Ser)
c.876G>T
c.2937G>T (p.Arg979Ser)
n.1852G>T
n.954G>T
c.5070G>T (p.Arg1690Ser)
c.5112G>T (p.Arg1704Ser)
c.5091G>T (p.Arg1697Ser)
c.5085G>T (p.Arg1695Ser)
c.5064G>T (p.Arg1688Ser)
c.3975G>T (p.Arg1325Ser)
c.5073G>T (p.Arg1691Ser)
n.955G>T
11g.70473319C=CA1981067998SHANK2c.3333G= (p.Arg1111=)
c.878G= (n.878G=)
c.5100G= (p.Arg1700=)
c.2609G=
c.3963G= (p.Arg1321=)
c.3390G= (p.Arg1130=)
c.3336G= (p.Arg1112=)
c.*104G= (n.*104G=)
c.3312G= (p.Arg1104=)
c.876G=
c.2937G= (p.Arg979=)
n.1852G=
n.954G=
c.5070G= (p.Arg1690=)
c.5112G= (p.Arg1704=)
c.5091G= (p.Arg1697=)
c.5085G= (p.Arg1695=)
c.5064G= (p.Arg1688=)
c.3975G= (p.Arg1325=)
c.5073G= (p.Arg1691=)
n.955G=
11g.70473319C>GCA381676388SHANK2c.3333G>C (p.Arg1111Ser)
c.878G>C (n.878G>C)
c.5100G>C (p.Arg1700Ser)
c.2609G>C
c.3963G>C (p.Arg1321Ser)
c.3390G>C (p.Arg1130Ser)
c.3336G>C (p.Arg1112Ser)
c.*104G>C (n.*104G>C)
c.3312G>C (p.Arg1104Ser)
c.876G>C
c.2937G>C (p.Arg979Ser)
n.1852G>C
n.954G>C
c.5070G>C (p.Arg1690Ser)
c.5112G>C (p.Arg1704Ser)
c.5091G>C (p.Arg1697Ser)
c.5085G>C (p.Arg1695Ser)
c.5064G>C (p.Arg1688Ser)
c.3975G>C (p.Arg1325Ser)
c.5073G>C (p.Arg1691Ser)
n.955G>C
11g.70473319C>TCA475470747SHANK2c.3333G>A (p.Arg1111=)
c.878G>A (n.878G>A)
c.5100G>A (p.Arg1700=)
c.2609G>A
c.3963G>A (p.Arg1321=)
c.3390G>A (p.Arg1130=)
c.3336G>A (p.Arg1112=)
c.*104G>A (n.*104G>A)
c.3312G>A (p.Arg1104=)
c.876G>A
c.2937G>A (p.Arg979=)
n.1852G>A
n.954G>A
c.5070G>A (p.Arg1690=)
c.5112G>A (p.Arg1704=)
c.5091G>A (p.Arg1697=)
c.5085G>A (p.Arg1695=)
c.5064G>A (p.Arg1688=)
c.3975G>A (p.Arg1325=)
c.5073G>A (p.Arg1691=)
n.955G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473320C>ACA381676389SHANK2c.3332G>T (p.Arg1111Met)
c.877G>T (n.877G>T)
c.5099G>T (p.Arg1700Met)
c.2608G>T
c.3962G>T (p.Arg1321Met)
c.3389G>T (p.Arg1130Met)
c.3335G>T (p.Arg1112Met)
c.*103G>T (n.*103G>T)
c.3311G>T (p.Arg1104Met)
c.875G>T
c.2936G>T (p.Arg979Met)
n.1851G>T
n.953G>T
c.5069G>T (p.Arg1690Met)
c.5111G>T (p.Arg1704Met)
c.5090G>T (p.Arg1697Met)
c.5084G>T (p.Arg1695Met)
c.5063G>T (p.Arg1688Met)
c.3974G>T (p.Arg1325Met)
c.5072G>T (p.Arg1691Met)
n.954G>T
11g.70473320C>GCA381676390SHANK2c.3332G>C (p.Arg1111Thr)
c.877G>C (n.877G>C)
c.5099G>C (p.Arg1700Thr)
c.2608G>C
c.3962G>C (p.Arg1321Thr)
c.3389G>C (p.Arg1130Thr)
c.3335G>C (p.Arg1112Thr)
c.*103G>C (n.*103G>C)
c.3311G>C (p.Arg1104Thr)
c.875G>C
c.2936G>C (p.Arg979Thr)
n.1851G>C
n.953G>C
c.5069G>C (p.Arg1690Thr)
c.5111G>C (p.Arg1704Thr)
c.5090G>C (p.Arg1697Thr)
c.5084G>C (p.Arg1695Thr)
c.5063G>C (p.Arg1688Thr)
c.3974G>C (p.Arg1325Thr)
c.5072G>C (p.Arg1691Thr)
n.954G>C
11g.70473320C>TCA381676391SHANK2c.3332G>A (p.Arg1111Lys)
c.877G>A (n.877G>A)
c.5099G>A (p.Arg1700Lys)
c.2608G>A
c.3962G>A (p.Arg1321Lys)
c.3389G>A (p.Arg1130Lys)
c.3335G>A (p.Arg1112Lys)
c.*103G>A (n.*103G>A)
c.3311G>A (p.Arg1104Lys)
c.875G>A
c.2936G>A (p.Arg979Lys)
n.1851G>A
n.953G>A
c.5069G>A (p.Arg1690Lys)
c.5111G>A (p.Arg1704Lys)
c.5090G>A (p.Arg1697Lys)
c.5084G>A (p.Arg1695Lys)
c.5063G>A (p.Arg1688Lys)
c.3974G>A (p.Arg1325Lys)
c.5072G>A (p.Arg1691Lys)
n.954G>A
11g.70473321T>ACA381676392SHANK2c.3331A>T (p.Arg1111Trp)
c.876A>T (n.876A>T)
c.5098A>T (p.Arg1700Trp)
c.2607A>T
c.3961A>T (p.Arg1321Trp)
c.3388A>T (p.Arg1130Trp)
c.3334A>T (p.Arg1112Trp)
c.*102A>T (n.*102A>T)
c.3310A>T (p.Arg1104Trp)
c.874A>T
c.2935A>T (p.Arg979Trp)
n.1850A>T
n.952A>T
c.5068A>T (p.Arg1690Trp)
c.5110A>T (p.Arg1704Trp)
c.5089A>T (p.Arg1697Trp)
c.5083A>T (p.Arg1695Trp)
c.5062A>T (p.Arg1688Trp)
c.3973A>T (p.Arg1325Trp)
c.5071A>T (p.Arg1691Trp)
n.953A>T
11g.70473321T>CCA381676393SHANK2c.3331A>G (p.Arg1111Gly)
c.876A>G (n.876A>G)
c.5098A>G (p.Arg1700Gly)
c.2607A>G
c.3961A>G (p.Arg1321Gly)
c.3388A>G (p.Arg1130Gly)
c.3334A>G (p.Arg1112Gly)
c.*102A>G (n.*102A>G)
c.3310A>G (p.Arg1104Gly)
c.874A>G
c.2935A>G (p.Arg979Gly)
n.1850A>G
n.952A>G
c.5068A>G (p.Arg1690Gly)
c.5110A>G (p.Arg1704Gly)
c.5089A>G (p.Arg1697Gly)
c.5083A>G (p.Arg1695Gly)
c.5062A>G (p.Arg1688Gly)
c.3973A>G (p.Arg1325Gly)
c.5071A>G (p.Arg1691Gly)
n.953A>G
 dbSNP gnomAD v3 gnomAD v4
11g.70473321T>GCA475470748SHANK2c.3331A>C (p.Arg1111=)
c.876A>C (n.876A>C)
c.5098A>C (p.Arg1700=)
c.2607A>C
c.3961A>C (p.Arg1321=)
c.3388A>C (p.Arg1130=)
c.3334A>C (p.Arg1112=)
c.*102A>C (n.*102A>C)
c.3310A>C (p.Arg1104=)
c.874A>C
c.2935A>C (p.Arg979=)
n.1850A>C
n.952A>C
c.5068A>C (p.Arg1690=)
c.5110A>C (p.Arg1704=)
c.5089A>C (p.Arg1697=)
c.5083A>C (p.Arg1695=)
c.5062A>C (p.Arg1688=)
c.3973A>C (p.Arg1325=)
c.5071A>C (p.Arg1691=)
n.953A>C
 gnomAD v4
11g.70473321T=CA1981067999SHANK2c.3331A= (p.Arg1111=)
c.876A= (n.876A=)
c.5098A= (p.Arg1700=)
c.2607A=
c.3961A= (p.Arg1321=)
c.3388A= (p.Arg1130=)
c.3334A= (p.Arg1112=)
c.*102A= (n.*102A=)
c.3310A= (p.Arg1104=)
c.874A=
c.2935A= (p.Arg979=)
n.1850A=
n.952A=
c.5068A= (p.Arg1690=)
c.5110A= (p.Arg1704=)
c.5089A= (p.Arg1697=)
c.5083A= (p.Arg1695=)
c.5062A= (p.Arg1688=)
c.3973A= (p.Arg1325=)
c.5071A= (p.Arg1691=)
n.953A=
11g.70473322G>ACA475470749SHANK2c.3330C>T (p.Ser1110=)
c.875C>T (n.875C>T)
c.5097C>T (p.Ser1699=)
c.2606C>T
c.3960C>T (p.Ser1320=)
c.3387C>T (p.Ser1129=)
c.3333C>T (p.Ser1111=)
c.*101C>T (n.*101C>T)
c.3309C>T (p.Ser1103=)
c.873C>T
c.2934C>T (p.Ser978=)
n.1849C>T
n.951C>T
c.5067C>T (p.Ser1689=)
c.5109C>T (p.Ser1703=)
c.5088C>T (p.Ser1696=)
c.5082C>T (p.Ser1694=)
c.5061C>T (p.Ser1687=)
c.3972C>T (p.Ser1324=)
c.5070C>T (p.Ser1690=)
n.952C>T
11g.70473322G>CCA381676394SHANK2c.3330C>G (p.Ser1110Arg)
c.875C>G (n.875C>G)
c.5097C>G (p.Ser1699Arg)
c.2606C>G
c.3960C>G (p.Ser1320Arg)
c.3387C>G (p.Ser1129Arg)
c.3333C>G (p.Ser1111Arg)
c.*101C>G (n.*101C>G)
c.3309C>G (p.Ser1103Arg)
c.873C>G
c.2934C>G (p.Ser978Arg)
n.1849C>G
n.951C>G
c.5067C>G (p.Ser1689Arg)
c.5109C>G (p.Ser1703Arg)
c.5088C>G (p.Ser1696Arg)
c.5082C>G (p.Ser1694Arg)
c.5061C>G (p.Ser1687Arg)
c.3972C>G (p.Ser1324Arg)
c.5070C>G (p.Ser1690Arg)
n.952C>G
11g.70473322G>TCA381676395SHANK2c.3330C>A (p.Ser1110Arg)
c.875C>A (n.875C>A)
c.5097C>A (p.Ser1699Arg)
c.2606C>A
c.3960C>A (p.Ser1320Arg)
c.3387C>A (p.Ser1129Arg)
c.3333C>A (p.Ser1111Arg)
c.*101C>A (n.*101C>A)
c.3309C>A (p.Ser1103Arg)
c.873C>A
c.2934C>A (p.Ser978Arg)
n.1849C>A
n.951C>A
c.5067C>A (p.Ser1689Arg)
c.5109C>A (p.Ser1703Arg)
c.5088C>A (p.Ser1696Arg)
c.5082C>A (p.Ser1694Arg)
c.5061C>A (p.Ser1687Arg)
c.3972C>A (p.Ser1324Arg)
c.5070C>A (p.Ser1690Arg)
n.952C>A
11g.70473323C>ACA381676396SHANK2c.3329G>T (p.Ser1110Ile)
c.874G>T (n.874G>T)
c.5096G>T (p.Ser1699Ile)
c.2605G>T
c.3959G>T (p.Ser1320Ile)
c.3386G>T (p.Ser1129Ile)
c.3332G>T (p.Ser1111Ile)
c.*100G>T (n.*100G>T)
c.3308G>T (p.Ser1103Ile)
c.872G>T
c.2933G>T (p.Ser978Ile)
n.1848G>T
n.950G>T
c.5066G>T (p.Ser1689Ile)
c.5108G>T (p.Ser1703Ile)
c.5087G>T (p.Ser1696Ile)
c.5081G>T (p.Ser1694Ile)
c.5060G>T (p.Ser1687Ile)
c.3971G>T (p.Ser1324Ile)
c.5069G>T (p.Ser1690Ile)
n.951G>T
 gnomAD v4
11g.70473323C=CA1981068000SHANK2c.3329G= (p.Ser1110=)
c.874G= (n.874G=)
c.5096G= (p.Ser1699=)
c.2605G=
c.3959G= (p.Ser1320=)
c.3386G= (p.Ser1129=)
c.3332G= (p.Ser1111=)
c.*100G= (n.*100G=)
c.3308G= (p.Ser1103=)
c.872G=
c.2933G= (p.Ser978=)
n.1848G=
n.950G=
c.5066G= (p.Ser1689=)
c.5108G= (p.Ser1703=)
c.5087G= (p.Ser1696=)
c.5081G= (p.Ser1694=)
c.5060G= (p.Ser1687=)
c.3971G= (p.Ser1324=)
c.5069G= (p.Ser1690=)
n.951G=
11g.70473323C>GCA381676397SHANK2c.3329G>C (p.Ser1110Thr)
c.874G>C (n.874G>C)
c.5096G>C (p.Ser1699Thr)
c.2605G>C
c.3959G>C (p.Ser1320Thr)
c.3386G>C (p.Ser1129Thr)
c.3332G>C (p.Ser1111Thr)
c.*100G>C (n.*100G>C)
c.3308G>C (p.Ser1103Thr)
c.872G>C
c.2933G>C (p.Ser978Thr)
n.1848G>C
n.950G>C
c.5066G>C (p.Ser1689Thr)
c.5108G>C (p.Ser1703Thr)
c.5087G>C (p.Ser1696Thr)
c.5081G>C (p.Ser1694Thr)
c.5060G>C (p.Ser1687Thr)
c.3971G>C (p.Ser1324Thr)
c.5069G>C (p.Ser1690Thr)
n.951G>C
11g.70473323C>TCA381676398SHANK2c.3329G>A (p.Ser1110Asn)
c.874G>A (n.874G>A)
c.5096G>A (p.Ser1699Asn)
c.2605G>A
c.3959G>A (p.Ser1320Asn)
c.3386G>A (p.Ser1129Asn)
c.3332G>A (p.Ser1111Asn)
c.*100G>A (n.*100G>A)
c.3308G>A (p.Ser1103Asn)
c.872G>A
c.2933G>A (p.Ser978Asn)
n.1848G>A
n.950G>A
c.5066G>A (p.Ser1689Asn)
c.5108G>A (p.Ser1703Asn)
c.5087G>A (p.Ser1696Asn)
c.5081G>A (p.Ser1694Asn)
c.5060G>A (p.Ser1687Asn)
c.3971G>A (p.Ser1324Asn)
c.5069G>A (p.Ser1690Asn)
n.951G>A
 dbSNP gnomAD v4
11g.70473324T>ACA381676399SHANK2c.3328A>T (p.Ser1110Cys)
c.873A>T (n.873A>T)
c.5095A>T (p.Ser1699Cys)
c.2604A>T
c.3958A>T (p.Ser1320Cys)
c.3385A>T (p.Ser1129Cys)
c.3331A>T (p.Ser1111Cys)
c.*99A>T (n.*99A>T)
c.3307A>T (p.Ser1103Cys)
c.871A>T
c.2932A>T (p.Ser978Cys)
n.1847A>T
n.949A>T
c.5065A>T (p.Ser1689Cys)
c.5107A>T (p.Ser1703Cys)
c.5086A>T (p.Ser1696Cys)
c.5080A>T (p.Ser1694Cys)
c.5059A>T (p.Ser1687Cys)
c.3970A>T (p.Ser1324Cys)
c.5068A>T (p.Ser1690Cys)
n.950A>T
11g.70473324T>CCA381676400SHANK2c.3328A>G (p.Ser1110Gly)
c.873A>G (n.873A>G)
c.5095A>G (p.Ser1699Gly)
c.2604A>G
c.3958A>G (p.Ser1320Gly)
c.3385A>G (p.Ser1129Gly)
c.3331A>G (p.Ser1111Gly)
c.*99A>G (n.*99A>G)
c.3307A>G (p.Ser1103Gly)
c.871A>G
c.2932A>G (p.Ser978Gly)
n.1847A>G
n.949A>G
c.5065A>G (p.Ser1689Gly)
c.5107A>G (p.Ser1703Gly)
c.5086A>G (p.Ser1696Gly)
c.5080A>G (p.Ser1694Gly)
c.5059A>G (p.Ser1687Gly)
c.3970A>G (p.Ser1324Gly)
c.5068A>G (p.Ser1690Gly)
n.950A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473324T>GCA381676401SHANK2c.3328A>C (p.Ser1110Arg)
c.873A>C (n.873A>C)
c.5095A>C (p.Ser1699Arg)
c.2604A>C
c.3958A>C (p.Ser1320Arg)
c.3385A>C (p.Ser1129Arg)
c.3331A>C (p.Ser1111Arg)
c.*99A>C (n.*99A>C)
c.3307A>C (p.Ser1103Arg)
c.871A>C
c.2932A>C (p.Ser978Arg)
n.1847A>C
n.949A>C
c.5065A>C (p.Ser1689Arg)
c.5107A>C (p.Ser1703Arg)
c.5086A>C (p.Ser1696Arg)
c.5080A>C (p.Ser1694Arg)
c.5059A>C (p.Ser1687Arg)
c.3970A>C (p.Ser1324Arg)
c.5068A>C (p.Ser1690Arg)
n.950A>C
11g.70473324T=CA1981068001SHANK2c.3328A= (p.Ser1110=)
c.873A= (n.873A=)
c.5095A= (p.Ser1699=)
c.2604A=
c.3958A= (p.Ser1320=)
c.3385A= (p.Ser1129=)
c.3331A= (p.Ser1111=)
c.*99A= (n.*99A=)
c.3307A= (p.Ser1103=)
c.871A=
c.2932A= (p.Ser978=)
n.1847A=
n.949A=
c.5065A= (p.Ser1689=)
c.5107A= (p.Ser1703=)
c.5086A= (p.Ser1696=)
c.5080A= (p.Ser1694=)
c.5059A= (p.Ser1687=)
c.3970A= (p.Ser1324=)
c.5068A= (p.Ser1690=)
n.950A=
11g.70473325T>ACA381676402SHANK2c.3327A>T (p.Glu1109Asp)
c.872A>T (n.872A>T)
c.5094A>T (p.Glu1698Asp)
c.2603A>T
c.3957A>T (p.Glu1319Asp)
c.3384A>T (p.Glu1128Asp)
c.3330A>T (p.Glu1110Asp)
c.*98A>T (n.*98A>T)
c.3306A>T (p.Glu1102Asp)
c.870A>T
c.2931A>T (p.Glu977Asp)
n.1846A>T
n.948A>T
c.5064A>T (p.Glu1688Asp)
c.5106A>T (p.Glu1702Asp)
c.5085A>T (p.Glu1695Asp)
c.5079A>T (p.Glu1693Asp)
c.5058A>T (p.Glu1686Asp)
c.3969A>T (p.Glu1323Asp)
c.5067A>T (p.Glu1689Asp)
n.949A>T
11g.70473325T>CCA475470750SHANK2c.3327A>G (p.Glu1109=)
c.872A>G (n.872A>G)
c.5094A>G (p.Glu1698=)
c.2603A>G
c.3957A>G (p.Glu1319=)
c.3384A>G (p.Glu1128=)
c.3330A>G (p.Glu1110=)
c.*98A>G (n.*98A>G)
c.3306A>G (p.Glu1102=)
c.870A>G
c.2931A>G (p.Glu977=)
n.1846A>G
n.948A>G
c.5064A>G (p.Glu1688=)
c.5106A>G (p.Glu1702=)
c.5085A>G (p.Glu1695=)
c.5079A>G (p.Glu1693=)
c.5058A>G (p.Glu1686=)
c.3969A>G (p.Glu1323=)
c.5067A>G (p.Glu1689=)
n.949A>G
11g.70473325T>GCA381676403SHANK2c.3327A>C (p.Glu1109Asp)
c.872A>C (n.872A>C)
c.5094A>C (p.Glu1698Asp)
c.2603A>C
c.3957A>C (p.Glu1319Asp)
c.3384A>C (p.Glu1128Asp)
c.3330A>C (p.Glu1110Asp)
c.*98A>C (n.*98A>C)
c.3306A>C (p.Glu1102Asp)
c.870A>C
c.2931A>C (p.Glu977Asp)
n.1846A>C
n.948A>C
c.5064A>C (p.Glu1688Asp)
c.5106A>C (p.Glu1702Asp)
c.5085A>C (p.Glu1695Asp)
c.5079A>C (p.Glu1693Asp)
c.5058A>C (p.Glu1686Asp)
c.3969A>C (p.Glu1323Asp)
c.5067A>C (p.Glu1689Asp)
n.949A>C
11g.70473326T>ACA381676404SHANK2c.3326A>T (p.Glu1109Val)
c.871A>T (n.871A>T)
c.5093A>T (p.Glu1698Val)
c.2602A>T
c.3956A>T (p.Glu1319Val)
c.3383A>T (p.Glu1128Val)
c.3329A>T (p.Glu1110Val)
c.*97A>T (n.*97A>T)
c.3305A>T (p.Glu1102Val)
c.869A>T
c.2930A>T (p.Glu977Val)
n.1845A>T
n.947A>T
c.5063A>T (p.Glu1688Val)
c.5105A>T (p.Glu1702Val)
c.5084A>T (p.Glu1695Val)
c.5078A>T (p.Glu1693Val)
c.5057A>T (p.Glu1686Val)
c.3968A>T (p.Glu1323Val)
c.5066A>T (p.Glu1689Val)
n.948A>T
11g.70473326T>CCA381676405SHANK2c.3326A>G (p.Glu1109Gly)
c.871A>G (n.871A>G)
c.5093A>G (p.Glu1698Gly)
c.2602A>G
c.3956A>G (p.Glu1319Gly)
c.3383A>G (p.Glu1128Gly)
c.3329A>G (p.Glu1110Gly)
c.*97A>G (n.*97A>G)
c.3305A>G (p.Glu1102Gly)
c.869A>G
c.2930A>G (p.Glu977Gly)
n.1845A>G
n.947A>G
c.5063A>G (p.Glu1688Gly)
c.5105A>G (p.Glu1702Gly)
c.5084A>G (p.Glu1695Gly)
c.5078A>G (p.Glu1693Gly)
c.5057A>G (p.Glu1686Gly)
c.3968A>G (p.Glu1323Gly)
c.5066A>G (p.Glu1689Gly)
n.948A>G
 gnomAD v4
11g.70473326T>GCA381676406SHANK2c.3326A>C (p.Glu1109Ala)
c.871A>C (n.871A>C)
c.5093A>C (p.Glu1698Ala)
c.2602A>C
c.3956A>C (p.Glu1319Ala)
c.3383A>C (p.Glu1128Ala)
c.3329A>C (p.Glu1110Ala)
c.*97A>C (n.*97A>C)
c.3305A>C (p.Glu1102Ala)
c.869A>C
c.2930A>C (p.Glu977Ala)
n.1845A>C
n.947A>C
c.5063A>C (p.Glu1688Ala)
c.5105A>C (p.Glu1702Ala)
c.5084A>C (p.Glu1695Ala)
c.5078A>C (p.Glu1693Ala)
c.5057A>C (p.Glu1686Ala)
c.3968A>C (p.Glu1323Ala)
c.5066A>C (p.Glu1689Ala)
n.948A>C
11g.70473327C>ACA381676407SHANK2c.3325G>T (p.Glu1109Ter)
c.870G>T (n.870G>T)
c.5092G>T (p.Glu1698Ter)
c.2601G>T
c.3955G>T (p.Glu1319Ter)
c.3382G>T (p.Glu1128Ter)
c.3328G>T (p.Glu1110Ter)
c.*96G>T (n.*96G>T)
c.3304G>T (p.Glu1102Ter)
c.868G>T
c.2929G>T (p.Glu977Ter)
n.1844G>T
n.946G>T
c.5062G>T (p.Glu1688Ter)
c.5104G>T (p.Glu1702Ter)
c.5083G>T (p.Glu1695Ter)
c.5077G>T (p.Glu1693Ter)
c.5056G>T (p.Glu1686Ter)
c.3967G>T (p.Glu1323Ter)
c.5065G>T (p.Glu1689Ter)
n.947G>T
11g.70473327C>GCA381676409SHANK2c.3325G>C (p.Glu1109Gln)
c.870G>C (n.870G>C)
c.5092G>C (p.Glu1698Gln)
c.2601G>C
c.3955G>C (p.Glu1319Gln)
c.3382G>C (p.Glu1128Gln)
c.3328G>C (p.Glu1110Gln)
c.*96G>C (n.*96G>C)
c.3304G>C (p.Glu1102Gln)
c.868G>C
c.2929G>C (p.Glu977Gln)
n.1844G>C
n.946G>C
c.5062G>C (p.Glu1688Gln)
c.5104G>C (p.Glu1702Gln)
c.5083G>C (p.Glu1695Gln)
c.5077G>C (p.Glu1693Gln)
c.5056G>C (p.Glu1686Gln)
c.3967G>C (p.Glu1323Gln)
c.5065G>C (p.Glu1689Gln)
n.947G>C
11g.70473327C>TCA381676408SHANK2c.3325G>A (p.Glu1109Lys)
c.870G>A (n.870G>A)
c.5092G>A (p.Glu1698Lys)
c.2601G>A
c.3955G>A (p.Glu1319Lys)
c.3382G>A (p.Glu1128Lys)
c.3328G>A (p.Glu1110Lys)
c.*96G>A (n.*96G>A)
c.3304G>A (p.Glu1102Lys)
c.868G>A
c.2929G>A (p.Glu977Lys)
n.1844G>A
n.946G>A
c.5062G>A (p.Glu1688Lys)
c.5104G>A (p.Glu1702Lys)
c.5083G>A (p.Glu1695Lys)
c.5077G>A (p.Glu1693Lys)
c.5056G>A (p.Glu1686Lys)
c.3967G>A (p.Glu1323Lys)
c.5065G>A (p.Glu1689Lys)
n.947G>A
11g.70473328A=CA1981068002SHANK2c.3324T= (p.Tyr1108=)
c.869T= (n.869T=)
c.5091T= (p.Tyr1697=)
c.2600T=
c.3954T= (p.Tyr1318=)
c.3381T= (p.Tyr1127=)
c.3327T= (p.Tyr1109=)
c.*95T= (n.*95T=)
c.3303T= (p.Tyr1101=)
c.867T=
c.2928T= (p.Tyr976=)
n.1843T=
n.945T=
c.5061T= (p.Tyr1687=)
c.5103T= (p.Tyr1701=)
c.5082T= (p.Tyr1694=)
c.5076T= (p.Tyr1692=)
c.5055T= (p.Tyr1685=)
c.3966T= (p.Tyr1322=)
c.5064T= (p.Tyr1688=)
n.946T=
11g.70473328A>CCA381676410SHANK2c.3324T>G (p.Tyr1108Ter)
c.869T>G (n.869T>G)
c.5091T>G (p.Tyr1697Ter)
c.2600T>G
c.3954T>G (p.Tyr1318Ter)
c.3381T>G (p.Tyr1127Ter)
c.3327T>G (p.Tyr1109Ter)
c.*95T>G (n.*95T>G)
c.3303T>G (p.Tyr1101Ter)
c.867T>G
c.2928T>G (p.Tyr976Ter)
n.1843T>G
n.945T>G
c.5061T>G (p.Tyr1687Ter)
c.5103T>G (p.Tyr1701Ter)
c.5082T>G (p.Tyr1694Ter)
c.5076T>G (p.Tyr1692Ter)
c.5055T>G (p.Tyr1685Ter)
c.3966T>G (p.Tyr1322Ter)
c.5064T>G (p.Tyr1688Ter)
n.946T>G
11g.70473328A>GCA6160772SHANK2c.3324T>C (p.Tyr1108=)
c.869T>C (n.869T>C)
c.5091T>C (p.Tyr1697=)
c.2600T>C
c.3954T>C (p.Tyr1318=)
c.3381T>C (p.Tyr1127=)
c.3327T>C (p.Tyr1109=)
c.*95T>C (n.*95T>C)
c.3303T>C (p.Tyr1101=)
c.867T>C
c.2928T>C (p.Tyr976=)
n.1843T>C
n.945T>C
c.5061T>C (p.Tyr1687=)
c.5103T>C (p.Tyr1701=)
c.5082T>C (p.Tyr1694=)
c.5076T>C (p.Tyr1692=)
c.5055T>C (p.Tyr1685=)
c.3966T>C (p.Tyr1322=)
c.5064T>C (p.Tyr1688=)
n.946T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473328A>TCA381676411SHANK2c.3324T>A (p.Tyr1108Ter)
c.869T>A (n.869T>A)
c.5091T>A (p.Tyr1697Ter)
c.2600T>A
c.3954T>A (p.Tyr1318Ter)
c.3381T>A (p.Tyr1127Ter)
c.3327T>A (p.Tyr1109Ter)
c.*95T>A (n.*95T>A)
c.3303T>A (p.Tyr1101Ter)
c.867T>A
c.2928T>A (p.Tyr976Ter)
n.1843T>A
n.945T>A
c.5061T>A (p.Tyr1687Ter)
c.5103T>A (p.Tyr1701Ter)
c.5082T>A (p.Tyr1694Ter)
c.5076T>A (p.Tyr1692Ter)
c.5055T>A (p.Tyr1685Ter)
c.3966T>A (p.Tyr1322Ter)
c.5064T>A (p.Tyr1688Ter)
n.946T>A
11g.70473329T>ACA381676412SHANK2c.3323A>T (p.Tyr1108Phe)
c.868A>T (n.868A>T)
c.5090A>T (p.Tyr1697Phe)
c.2599A>T
c.3953A>T (p.Tyr1318Phe)
c.3380A>T (p.Tyr1127Phe)
c.3326A>T (p.Tyr1109Phe)
c.*94A>T (n.*94A>T)
c.3302A>T (p.Tyr1101Phe)
c.866A>T
c.2927A>T (p.Tyr976Phe)
n.1842A>T
n.944A>T
c.5060A>T (p.Tyr1687Phe)
c.5102A>T (p.Tyr1701Phe)
c.5081A>T (p.Tyr1694Phe)
c.5075A>T (p.Tyr1692Phe)
c.5054A>T (p.Tyr1685Phe)
c.3965A>T (p.Tyr1322Phe)
c.5063A>T (p.Tyr1688Phe)
n.945A>T
11g.70473329T>CCA6160773SHANK2c.3323A>G (p.Tyr1108Cys)
c.868A>G (n.868A>G)
c.5090A>G (p.Tyr1697Cys)
c.2599A>G
c.3953A>G (p.Tyr1318Cys)
c.3380A>G (p.Tyr1127Cys)
c.3326A>G (p.Tyr1109Cys)
c.*94A>G (n.*94A>G)
c.3302A>G (p.Tyr1101Cys)
c.866A>G
c.2927A>G (p.Tyr976Cys)
n.1842A>G
n.944A>G
c.5060A>G (p.Tyr1687Cys)
c.5102A>G (p.Tyr1701Cys)
c.5081A>G (p.Tyr1694Cys)
c.5075A>G (p.Tyr1692Cys)
c.5054A>G (p.Tyr1685Cys)
c.3965A>G (p.Tyr1322Cys)
c.5063A>G (p.Tyr1688Cys)
n.945A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473329T>GCA381676413SHANK2c.3323A>C (p.Tyr1108Ser)
c.868A>C (n.868A>C)
c.5090A>C (p.Tyr1697Ser)
c.2599A>C
c.3953A>C (p.Tyr1318Ser)
c.3380A>C (p.Tyr1127Ser)
c.3326A>C (p.Tyr1109Ser)
c.*94A>C (n.*94A>C)
c.3302A>C (p.Tyr1101Ser)
c.866A>C
c.2927A>C (p.Tyr976Ser)
n.1842A>C
n.944A>C
c.5060A>C (p.Tyr1687Ser)
c.5102A>C (p.Tyr1701Ser)
c.5081A>C (p.Tyr1694Ser)
c.5075A>C (p.Tyr1692Ser)
c.5054A>C (p.Tyr1685Ser)
c.3965A>C (p.Tyr1322Ser)
c.5063A>C (p.Tyr1688Ser)
n.945A>C
11g.70473329T=CA1981068003SHANK2c.3323A= (p.Tyr1108=)
c.868A= (n.868A=)
c.5090A= (p.Tyr1697=)
c.2599A=
c.3953A= (p.Tyr1318=)
c.3380A= (p.Tyr1127=)
c.3326A= (p.Tyr1109=)
c.*94A= (n.*94A=)
c.3302A= (p.Tyr1101=)
c.866A=
c.2927A= (p.Tyr976=)
n.1842A=
n.944A=
c.5060A= (p.Tyr1687=)
c.5102A= (p.Tyr1701=)
c.5081A= (p.Tyr1694=)
c.5075A= (p.Tyr1692=)
c.5054A= (p.Tyr1685=)
c.3965A= (p.Tyr1322=)
c.5063A= (p.Tyr1688=)
n.945A=
11g.70473330A>CCA381676414SHANK2c.3322T>G (p.Tyr1108Asp)
c.867T>G (n.867T>G)
c.5089T>G (p.Tyr1697Asp)
c.2598T>G
c.3952T>G (p.Tyr1318Asp)
c.3379T>G (p.Tyr1127Asp)
c.3325T>G (p.Tyr1109Asp)
c.*93T>G (n.*93T>G)
c.3301T>G (p.Tyr1101Asp)
c.865T>G
c.2926T>G (p.Tyr976Asp)
n.1841T>G
n.943T>G
c.5059T>G (p.Tyr1687Asp)
c.5101T>G (p.Tyr1701Asp)
c.5080T>G (p.Tyr1694Asp)
c.5074T>G (p.Tyr1692Asp)
c.5053T>G (p.Tyr1685Asp)
c.3964T>G (p.Tyr1322Asp)
c.5062T>G (p.Tyr1688Asp)
n.944T>G
11g.70473330A>GCA381676415SHANK2c.3322T>C (p.Tyr1108His)
c.867T>C (n.867T>C)
c.5089T>C (p.Tyr1697His)
c.2598T>C
c.3952T>C (p.Tyr1318His)
c.3379T>C (p.Tyr1127His)
c.3325T>C (p.Tyr1109His)
c.*93T>C (n.*93T>C)
c.3301T>C (p.Tyr1101His)
c.865T>C
c.2926T>C (p.Tyr976His)
n.1841T>C
n.943T>C
c.5059T>C (p.Tyr1687His)
c.5101T>C (p.Tyr1701His)
c.5080T>C (p.Tyr1694His)
c.5074T>C (p.Tyr1692His)
c.5053T>C (p.Tyr1685His)
c.3964T>C (p.Tyr1322His)
c.5062T>C (p.Tyr1688His)
n.944T>C
11g.70473330A>TCA381676416SHANK2c.3322T>A (p.Tyr1108Asn)
c.867T>A (n.867T>A)
c.5089T>A (p.Tyr1697Asn)
c.2598T>A
c.3952T>A (p.Tyr1318Asn)
c.3379T>A (p.Tyr1127Asn)
c.3325T>A (p.Tyr1109Asn)
c.*93T>A (n.*93T>A)
c.3301T>A (p.Tyr1101Asn)
c.865T>A
c.2926T>A (p.Tyr976Asn)
n.1841T>A
n.943T>A
c.5059T>A (p.Tyr1687Asn)
c.5101T>A (p.Tyr1701Asn)
c.5080T>A (p.Tyr1694Asn)
c.5074T>A (p.Tyr1692Asn)
c.5053T>A (p.Tyr1685Asn)
c.3964T>A (p.Tyr1322Asn)
c.5062T>A (p.Tyr1688Asn)
n.944T>A
11g.70473331G>ACA475470751SHANK2c.3321C>T (p.Asp1107=)
c.866C>T (n.866C>T)
c.5088C>T (p.Asp1696=)
c.2597C>T
c.3951C>T (p.Asp1317=)
c.3378C>T (p.Asp1126=)
c.3324C>T (p.Asp1108=)
c.*92C>T (n.*92C>T)
c.3300C>T (p.Asp1100=)
c.864C>T
c.2925C>T (p.Asp975=)
n.1840C>T
n.942C>T
c.5058C>T (p.Asp1686=)
c.5100C>T (p.Asp1700=)
c.5079C>T (p.Asp1693=)
c.5073C>T (p.Asp1691=)
c.5052C>T (p.Asp1684=)
c.3963C>T (p.Asp1321=)
c.5061C>T (p.Asp1687=)
n.943C>T
 gnomAD v4
11g.70473331G>CCA381676417SHANK2c.3321C>G (p.Asp1107Glu)
c.866C>G (n.866C>G)
c.5088C>G (p.Asp1696Glu)
c.2597C>G
c.3951C>G (p.Asp1317Glu)
c.3378C>G (p.Asp1126Glu)
c.3324C>G (p.Asp1108Glu)
c.*92C>G (n.*92C>G)
c.3300C>G (p.Asp1100Glu)
c.864C>G
c.2925C>G (p.Asp975Glu)
n.1840C>G
n.942C>G
c.5058C>G (p.Asp1686Glu)
c.5100C>G (p.Asp1700Glu)
c.5079C>G (p.Asp1693Glu)
c.5073C>G (p.Asp1691Glu)
c.5052C>G (p.Asp1684Glu)
c.3963C>G (p.Asp1321Glu)
c.5061C>G (p.Asp1687Glu)
n.943C>G
11g.70473331G=CA1981068004SHANK2c.3321C= (p.Asp1107=)
c.866C= (n.866C=)
c.5088C= (p.Asp1696=)
c.2597C=
c.3951C= (p.Asp1317=)
c.3378C= (p.Asp1126=)
c.3324C= (p.Asp1108=)
c.*92C= (n.*92C=)
c.3300C= (p.Asp1100=)
c.864C=
c.2925C= (p.Asp975=)
n.1840C=
n.942C=
c.5058C= (p.Asp1686=)
c.5100C= (p.Asp1700=)
c.5079C= (p.Asp1693=)
c.5073C= (p.Asp1691=)
c.5052C= (p.Asp1684=)
c.3963C= (p.Asp1321=)
c.5061C= (p.Asp1687=)
n.943C=
11g.70473331G>TCA6160774SHANK2c.3321C>A (p.Asp1107Glu)
c.866C>A (n.866C>A)
c.5088C>A (p.Asp1696Glu)
c.2597C>A
c.3951C>A (p.Asp1317Glu)
c.3378C>A (p.Asp1126Glu)
c.3324C>A (p.Asp1108Glu)
c.*92C>A (n.*92C>A)
c.3300C>A (p.Asp1100Glu)
c.864C>A
c.2925C>A (p.Asp975Glu)
n.1840C>A
n.942C>A
c.5058C>A (p.Asp1686Glu)
c.5100C>A (p.Asp1700Glu)
c.5079C>A (p.Asp1693Glu)
c.5073C>A (p.Asp1691Glu)
c.5052C>A (p.Asp1684Glu)
c.3963C>A (p.Asp1321Glu)
c.5061C>A (p.Asp1687Glu)
n.943C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473332T>ACA381676420SHANK2c.3320A>T (p.Asp1107Val)
c.865A>T (n.865A>T)
c.5087A>T (p.Asp1696Val)
c.2596A>T
c.3950A>T (p.Asp1317Val)
c.3377A>T (p.Asp1126Val)
c.3323A>T (p.Asp1108Val)
c.*91A>T (n.*91A>T)
c.3299A>T (p.Asp1100Val)
c.863A>T
c.2924A>T (p.Asp975Val)
n.1839A>T
n.941A>T
c.5057A>T (p.Asp1686Val)
c.5099A>T (p.Asp1700Val)
c.5078A>T (p.Asp1693Val)
c.5072A>T (p.Asp1691Val)
c.5051A>T (p.Asp1684Val)
c.3962A>T (p.Asp1321Val)
c.5060A>T (p.Asp1687Val)
n.942A>T
11g.70473332T>CCA381676419SHANK2c.3320A>G (p.Asp1107Gly)
c.865A>G (n.865A>G)
c.5087A>G (p.Asp1696Gly)
c.2596A>G
c.3950A>G (p.Asp1317Gly)
c.3377A>G (p.Asp1126Gly)
c.3323A>G (p.Asp1108Gly)
c.*91A>G (n.*91A>G)
c.3299A>G (p.Asp1100Gly)
c.863A>G
c.2924A>G (p.Asp975Gly)
n.1839A>G
n.941A>G
c.5057A>G (p.Asp1686Gly)
c.5099A>G (p.Asp1700Gly)
c.5078A>G (p.Asp1693Gly)
c.5072A>G (p.Asp1691Gly)
c.5051A>G (p.Asp1684Gly)
c.3962A>G (p.Asp1321Gly)
c.5060A>G (p.Asp1687Gly)
n.942A>G
11g.70473332T>GCA381676418SHANK2c.3320A>C (p.Asp1107Ala)
c.865A>C (n.865A>C)
c.5087A>C (p.Asp1696Ala)
c.2596A>C
c.3950A>C (p.Asp1317Ala)
c.3377A>C (p.Asp1126Ala)
c.3323A>C (p.Asp1108Ala)
c.*91A>C (n.*91A>C)
c.3299A>C (p.Asp1100Ala)
c.863A>C
c.2924A>C (p.Asp975Ala)
n.1839A>C
n.941A>C
c.5057A>C (p.Asp1686Ala)
c.5099A>C (p.Asp1700Ala)
c.5078A>C (p.Asp1693Ala)
c.5072A>C (p.Asp1691Ala)
c.5051A>C (p.Asp1684Ala)
c.3962A>C (p.Asp1321Ala)
c.5060A>C (p.Asp1687Ala)
n.942A>C
11g.70473333C>ACA381676421SHANK2c.3319G>T (p.Asp1107Tyr)
c.864G>T (n.864G>T)
c.5086G>T (p.Asp1696Tyr)
c.2595G>T
c.3949G>T (p.Asp1317Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3322G>T (p.Asp1108Tyr)
c.*90G>T (n.*90G>T)
c.3298G>T (p.Asp1100Tyr)
c.862G>T
c.2923G>T (p.Asp975Tyr)
n.1838G>T
n.940G>T
c.5056G>T (p.Asp1686Tyr)
c.5098G>T (p.Asp1700Tyr)
c.5077G>T (p.Asp1693Tyr)
c.5071G>T (p.Asp1691Tyr)
c.5050G>T (p.Asp1684Tyr)
c.3961G>T (p.Asp1321Tyr)
c.5059G>T (p.Asp1687Tyr)
n.941G>T
11g.70473333C=CA1981068005SHANK2c.3319G= (p.Asp1107=)
c.864G= (n.864G=)
c.5086G= (p.Asp1696=)
c.2595G=
c.3949G= (p.Asp1317=)
c.3376G= (p.Asp1126=)
c.3322G= (p.Asp1108=)
c.*90G= (n.*90G=)
c.3298G= (p.Asp1100=)
c.862G=
c.2923G= (p.Asp975=)
n.1838G=
n.940G=
c.5056G= (p.Asp1686=)
c.5098G= (p.Asp1700=)
c.5077G= (p.Asp1693=)
c.5071G= (p.Asp1691=)
c.5050G= (p.Asp1684=)
c.3961G= (p.Asp1321=)
c.5059G= (p.Asp1687=)
n.941G=
11g.70473333C>GCA381676422SHANK2c.3319G>C (p.Asp1107His)
c.864G>C (n.864G>C)
c.5086G>C (p.Asp1696His)
c.2595G>C
c.3949G>C (p.Asp1317His)
c.3376G>C (p.Asp1126His)
c.3322G>C (p.Asp1108His)
c.*90G>C (n.*90G>C)
c.3298G>C (p.Asp1100His)
c.862G>C
c.2923G>C (p.Asp975His)
n.1838G>C
n.940G>C
c.5056G>C (p.Asp1686His)
c.5098G>C (p.Asp1700His)
c.5077G>C (p.Asp1693His)
c.5071G>C (p.Asp1691His)
c.5050G>C (p.Asp1684His)
c.3961G>C (p.Asp1321His)
c.5059G>C (p.Asp1687His)
n.941G>C
11g.70473333C>TCA6160775SHANK2c.3319G>A (p.Asp1107Asn)
c.864G>A (n.864G>A)
c.5086G>A (p.Asp1696Asn)
c.2595G>A
c.3949G>A (p.Asp1317Asn)
c.3376G>A (p.Asp1126Asn)
c.3322G>A (p.Asp1108Asn)
c.*90G>A (n.*90G>A)
c.3298G>A (p.Asp1100Asn)
c.862G>A
c.2923G>A (p.Asp975Asn)
n.1838G>A
n.940G>A
c.5056G>A (p.Asp1686Asn)
c.5098G>A (p.Asp1700Asn)
c.5077G>A (p.Asp1693Asn)
c.5071G>A (p.Asp1691Asn)
c.5050G>A (p.Asp1684Asn)
c.3961G>A (p.Asp1321Asn)
c.5059G>A (p.Asp1687Asn)
n.941G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473334G>ACA475470752SHANK2c.3318C>T (p.Pro1106=)
c.863C>T (n.863C>T)
c.5085C>T (p.Pro1695=)
c.2594C>T
c.3948C>T (p.Pro1316=)
c.3375C>T (p.Pro1125=)
c.3321C>T (p.Pro1107=)
c.*89C>T (n.*89C>T)
c.3297C>T (p.Pro1099=)
c.861C>T
c.2922C>T (p.Pro974=)
n.1837C>T
n.939C>T
c.5055C>T (p.Pro1685=)
c.5097C>T (p.Pro1699=)
c.5076C>T (p.Pro1692=)
c.5070C>T (p.Pro1690=)
c.5049C>T (p.Pro1683=)
c.3960C>T (p.Pro1320=)
c.5058C>T (p.Pro1686=)
n.940C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
11g.70473334G>CCA475470753SHANK2c.3318C>G (p.Pro1106=)
c.863C>G (n.863C>G)
c.5085C>G (p.Pro1695=)
c.2594C>G
c.3948C>G (p.Pro1316=)
c.3375C>G (p.Pro1125=)
c.3321C>G (p.Pro1107=)
c.*89C>G (n.*89C>G)
c.3297C>G (p.Pro1099=)
c.861C>G
c.2922C>G (p.Pro974=)
n.1837C>G
n.939C>G
c.5055C>G (p.Pro1685=)
c.5097C>G (p.Pro1699=)
c.5076C>G (p.Pro1692=)
c.5070C>G (p.Pro1690=)
c.5049C>G (p.Pro1683=)
c.3960C>G (p.Pro1320=)
c.5058C>G (p.Pro1686=)
n.940C>G
11g.70473334G=CA1981068006SHANK2c.3318C= (p.Pro1106=)
c.863C= (n.863C=)
c.5085C= (p.Pro1695=)
c.2594C=
c.3948C= (p.Pro1316=)
c.3375C= (p.Pro1125=)
c.3321C= (p.Pro1107=)
c.*89C= (n.*89C=)
c.3297C= (p.Pro1099=)
c.861C=
c.2922C= (p.Pro974=)
n.1837C=
n.939C=
c.5055C= (p.Pro1685=)
c.5097C= (p.Pro1699=)
c.5076C= (p.Pro1692=)
c.5070C= (p.Pro1690=)
c.5049C= (p.Pro1683=)
c.3960C= (p.Pro1320=)
c.5058C= (p.Pro1686=)
n.940C=
11g.70473334G>TCA475470754SHANK2c.3318C>A (p.Pro1106=)
c.863C>A (n.863C>A)
c.5085C>A (p.Pro1695=)
c.2594C>A
c.3948C>A (p.Pro1316=)
c.3375C>A (p.Pro1125=)
c.3321C>A (p.Pro1107=)
c.*89C>A (n.*89C>A)
c.3297C>A (p.Pro1099=)
c.861C>A
c.2922C>A (p.Pro974=)
n.1837C>A
n.939C>A
c.5055C>A (p.Pro1685=)
c.5097C>A (p.Pro1699=)
c.5076C>A (p.Pro1692=)
c.5070C>A (p.Pro1690=)
c.5049C>A (p.Pro1683=)
c.3960C>A (p.Pro1320=)
c.5058C>A (p.Pro1686=)
n.940C>A
 gnomAD v4
11g.70473339dupCA918909353SHANK2c.3318dup (p.Asp1107ArgfsTer3)
c.863dup (n.863dup)
c.5085dup (p.Asp1696ArgfsTer3)
c.2594dup
c.3948dup (p.Asp1317ArgfsTer3)
c.3375dup (p.Asp1126ArgfsTer3)
c.3321dup (p.Asp1108ArgfsTer3)
c.*89dup (n.*89dup)
c.3297dup (p.Asp1100ArgfsTer3)
c.861dup
c.2922dup (p.Asp975ArgfsTer3)
n.1837dup
n.939dup
c.5055dup (p.Asp1686ArgfsTer3)
c.5097dup (p.Asp1700ArgfsTer3)
c.5076dup (p.Asp1693ArgfsTer3)
c.5070dup (p.Asp1691ArgfsTer3)
c.5049dup (p.Asp1684ArgfsTer3)
c.3960dup (p.Asp1321ArgfsTer3)
c.5058dup (p.Asp1687ArgfsTer3)
n.940dup
 dbSNP
11g.70473338_70473339dupCA2792603591SHANK2c.3317_3318dup (p.Asp1107ProfsTer23)
c.862_863dup (n.862_863dup)
c.5084_5085dup (p.Asp1696ProfsTer23)
c.2593_2594dup
c.3947_3948dup (p.Asp1317ProfsTer23)
c.3374_3375dup (p.Asp1126ProfsTer23)
c.3320_3321dup (p.Asp1108ProfsTer23)
c.*88_*89dup (n.*88_*89dup)
c.3296_3297dup (p.Asp1100ProfsTer23)
c.860_861dup
c.2921_2922dup (p.Asp975ProfsTer23)
n.1836_1837dup
n.938_939dup
c.5054_5055dup (p.Asp1686ProfsTer23)
c.5096_5097dup (p.Asp1700ProfsTer23)
c.5075_5076dup (p.Asp1693ProfsTer23)
c.5069_5070dup (p.Asp1691ProfsTer23)
c.5048_5049dup (p.Asp1684ProfsTer23)
c.3959_3960dup (p.Asp1321ProfsTer23)
c.5057_5058dup (p.Asp1687ProfsTer23)
n.939_940dup
11g.70473339delCA2614835680SHANK2c.3318del (p.Asp1107ThrfsTer22)
c.863del (n.863del)
c.5085del (p.Asp1696ThrfsTer22)
c.2594del
c.3948del (p.Asp1317ThrfsTer22)
c.3375del (p.Asp1126ThrfsTer22)
c.3321del (p.Asp1108ThrfsTer22)
c.*89del (n.*89del)
c.3297del (p.Asp1100ThrfsTer22)
c.861del
c.2922del (p.Asp975ThrfsTer22)
n.1837del
n.939del
c.5055del (p.Asp1686ThrfsTer22)
c.5097del (p.Asp1700ThrfsTer22)
c.5076del (p.Asp1693ThrfsTer22)
c.5070del (p.Asp1691ThrfsTer22)
c.5049del (p.Asp1684ThrfsTer22)
c.3960del (p.Asp1321ThrfsTer22)
c.5058del (p.Asp1687ThrfsTer22)
n.940del
 gnomAD v4
11g.70473335G>ACA381676423SHANK2c.3317C>T (p.Pro1106Leu)
c.862C>T (n.862C>T)
c.5084C>T (p.Pro1695Leu)
c.2593C>T
c.3947C>T (p.Pro1316Leu)
c.3374C>T (p.Pro1125Leu)
c.3320C>T (p.Pro1107Leu)
c.*88C>T (n.*88C>T)
c.3296C>T (p.Pro1099Leu)
c.860C>T
c.2921C>T (p.Pro974Leu)
n.1836C>T
n.938C>T
c.5054C>T (p.Pro1685Leu)
c.5096C>T (p.Pro1699Leu)
c.5075C>T (p.Pro1692Leu)
c.5069C>T (p.Pro1690Leu)
c.5048C>T (p.Pro1683Leu)
c.3959C>T (p.Pro1320Leu)
c.5057C>T (p.Pro1686Leu)
n.939C>T
 dbSNP gnomAD v2
11g.70473335G>CCA381676424SHANK2c.3317C>G (p.Pro1106Arg)
c.862C>G (n.862C>G)
c.5084C>G (p.Pro1695Arg)
c.2593C>G
c.3947C>G (p.Pro1316Arg)
c.3374C>G (p.Pro1125Arg)
c.3320C>G (p.Pro1107Arg)
c.*88C>G (n.*88C>G)
c.3296C>G (p.Pro1099Arg)
c.860C>G
c.2921C>G (p.Pro974Arg)
n.1836C>G
n.938C>G
c.5054C>G (p.Pro1685Arg)
c.5096C>G (p.Pro1699Arg)
c.5075C>G (p.Pro1692Arg)
c.5069C>G (p.Pro1690Arg)
c.5048C>G (p.Pro1683Arg)
c.3959C>G (p.Pro1320Arg)
c.5057C>G (p.Pro1686Arg)
n.939C>G
11g.70473335G=CA1981068007SHANK2c.3317C= (p.Pro1106=)
c.862C= (n.862C=)
c.5084C= (p.Pro1695=)
c.2593C=
c.3947C= (p.Pro1316=)
c.3374C= (p.Pro1125=)
c.3320C= (p.Pro1107=)
c.*88C= (n.*88C=)
c.3296C= (p.Pro1099=)
c.860C=
c.2921C= (p.Pro974=)
n.1836C=
n.938C=
c.5054C= (p.Pro1685=)
c.5096C= (p.Pro1699=)
c.5075C= (p.Pro1692=)
c.5069C= (p.Pro1690=)
c.5048C= (p.Pro1683=)
c.3959C= (p.Pro1320=)
c.5057C= (p.Pro1686=)
n.939C=
11g.70473335G>TCA381676425SHANK2c.3317C>A (p.Pro1106His)
c.862C>A (n.862C>A)
c.5084C>A (p.Pro1695His)
c.2593C>A
c.3947C>A (p.Pro1316His)
c.3374C>A (p.Pro1125His)
c.3320C>A (p.Pro1107His)
c.*88C>A (n.*88C>A)
c.3296C>A (p.Pro1099His)
c.860C>A
c.2921C>A (p.Pro974His)
n.1836C>A
n.938C>A
c.5054C>A (p.Pro1685His)
c.5096C>A (p.Pro1699His)
c.5075C>A (p.Pro1692His)
c.5069C>A (p.Pro1690His)
c.5048C>A (p.Pro1683His)
c.3959C>A (p.Pro1320His)
c.5057C>A (p.Pro1686His)
n.939C>A
11g.70473336G>ACA381676426SHANK2c.3316C>T (p.Pro1106Ser)
c.861C>T (n.861C>T)
c.5083C>T (p.Pro1695Ser)
c.2592C>T
c.3946C>T (p.Pro1316Ser)
c.3373C>T (p.Pro1125Ser)
c.3319C>T (p.Pro1107Ser)
c.*87C>T (n.*87C>T)
c.3295C>T (p.Pro1099Ser)
c.859C>T
c.2920C>T (p.Pro974Ser)
n.1835C>T
n.937C>T
c.5053C>T (p.Pro1685Ser)
c.5095C>T (p.Pro1699Ser)
c.5074C>T (p.Pro1692Ser)
c.5068C>T (p.Pro1690Ser)
c.5047C>T (p.Pro1683Ser)
c.3958C>T (p.Pro1320Ser)
c.5056C>T (p.Pro1686Ser)
n.938C>T
 dbSNP gnomAD v4
11g.70473336G>CCA381676427SHANK2c.3316C>G (p.Pro1106Ala)
c.861C>G (n.861C>G)
c.5083C>G (p.Pro1695Ala)
c.2592C>G
c.3946C>G (p.Pro1316Ala)
c.3373C>G (p.Pro1125Ala)
c.3319C>G (p.Pro1107Ala)
c.*87C>G (n.*87C>G)
c.3295C>G (p.Pro1099Ala)
c.859C>G
c.2920C>G (p.Pro974Ala)
n.1835C>G
n.937C>G
c.5053C>G (p.Pro1685Ala)
c.5095C>G (p.Pro1699Ala)
c.5074C>G (p.Pro1692Ala)
c.5068C>G (p.Pro1690Ala)
c.5047C>G (p.Pro1683Ala)
c.3958C>G (p.Pro1320Ala)
c.5056C>G (p.Pro1686Ala)
n.938C>G
11g.70473336G=CA1981068008SHANK2c.3316C= (p.Pro1106=)
c.861C= (n.861C=)
c.5083C= (p.Pro1695=)
c.2592C=
c.3946C= (p.Pro1316=)
c.3373C= (p.Pro1125=)
c.3319C= (p.Pro1107=)
c.*87C= (n.*87C=)
c.3295C= (p.Pro1099=)
c.859C=
c.2920C= (p.Pro974=)
n.1835C=
n.937C=
c.5053C= (p.Pro1685=)
c.5095C= (p.Pro1699=)
c.5074C= (p.Pro1692=)
c.5068C= (p.Pro1690=)
c.5047C= (p.Pro1683=)
c.3958C= (p.Pro1320=)
c.5056C= (p.Pro1686=)
n.938C=
11g.70473336G>TCA381676428SHANK2c.3316C>A (p.Pro1106Thr)
c.861C>A (n.861C>A)
c.5083C>A (p.Pro1695Thr)
c.2592C>A
c.3946C>A (p.Pro1316Thr)
c.3373C>A (p.Pro1125Thr)
c.3319C>A (p.Pro1107Thr)
c.*87C>A (n.*87C>A)
c.3295C>A (p.Pro1099Thr)
c.859C>A
c.2920C>A (p.Pro974Thr)
n.1835C>A
n.937C>A
c.5053C>A (p.Pro1685Thr)
c.5095C>A (p.Pro1699Thr)
c.5074C>A (p.Pro1692Thr)
c.5068C>A (p.Pro1690Thr)
c.5047C>A (p.Pro1683Thr)
c.3958C>A (p.Pro1320Thr)
c.5056C>A (p.Pro1686Thr)
n.938C>A
11g.70473337G>ACA475470755SHANK2c.3315C>T (p.Pro1105=)
c.860C>T (n.860C>T)
c.5082C>T (p.Pro1694=)
c.2591C>T
c.3945C>T (p.Pro1315=)
c.3372C>T (p.Pro1124=)
c.3318C>T (p.Pro1106=)
c.*86C>T (n.*86C>T)
c.3294C>T (p.Pro1098=)
c.858C>T
c.2919C>T (p.Pro973=)
n.1834C>T
n.936C>T
c.5052C>T (p.Pro1684=)
c.5094C>T (p.Pro1698=)
c.5073C>T (p.Pro1691=)
c.5067C>T (p.Pro1689=)
c.5046C>T (p.Pro1682=)
c.3957C>T (p.Pro1319=)
c.5055C>T (p.Pro1685=)
n.937C>T
 gnomAD v4
11g.70473337G>CCA475470756SHANK2c.3315C>G (p.Pro1105=)
c.860C>G (n.860C>G)
c.5082C>G (p.Pro1694=)
c.2591C>G
c.3945C>G (p.Pro1315=)
c.3372C>G (p.Pro1124=)
c.3318C>G (p.Pro1106=)
c.*86C>G (n.*86C>G)
c.3294C>G (p.Pro1098=)
c.858C>G
c.2919C>G (p.Pro973=)
n.1834C>G
n.936C>G
c.5052C>G (p.Pro1684=)
c.5094C>G (p.Pro1698=)
c.5073C>G (p.Pro1691=)
c.5067C>G (p.Pro1689=)
c.5046C>G (p.Pro1682=)
c.3957C>G (p.Pro1319=)
c.5055C>G (p.Pro1685=)
n.937C>G
11g.70473337G>TCA475470757SHANK2c.3315C>A (p.Pro1105=)
c.860C>A (n.860C>A)
c.5082C>A (p.Pro1694=)
c.2591C>A
c.3945C>A (p.Pro1315=)
c.3372C>A (p.Pro1124=)
c.3318C>A (p.Pro1106=)
c.*86C>A (n.*86C>A)
c.3294C>A (p.Pro1098=)
c.858C>A
c.2919C>A (p.Pro973=)
n.1834C>A
n.936C>A
c.5052C>A (p.Pro1684=)
c.5094C>A (p.Pro1698=)
c.5073C>A (p.Pro1691=)
c.5067C>A (p.Pro1689=)
c.5046C>A (p.Pro1682=)
c.3957C>A (p.Pro1319=)
c.5055C>A (p.Pro1685=)
n.937C>A
 gnomAD v4
11g.70473338G>ACA381676429SHANK2c.3314C>T (p.Pro1105Leu)
c.859C>T (n.859C>T)
c.5081C>T (p.Pro1694Leu)
c.2590C>T
c.3944C>T (p.Pro1315Leu)
c.3371C>T (p.Pro1124Leu)
c.3317C>T (p.Pro1106Leu)
c.*85C>T (n.*85C>T)
c.3293C>T (p.Pro1098Leu)
c.857C>T
c.2918C>T (p.Pro973Leu)
n.1833C>T
n.935C>T
c.5051C>T (p.Pro1684Leu)
c.5093C>T (p.Pro1698Leu)
c.5072C>T (p.Pro1691Leu)
c.5066C>T (p.Pro1689Leu)
c.5045C>T (p.Pro1682Leu)
c.3956C>T (p.Pro1319Leu)
c.5054C>T (p.Pro1685Leu)
n.936C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473338G>CCA381676430SHANK2c.3314C>G (p.Pro1105Arg)
c.859C>G (n.859C>G)
c.5081C>G (p.Pro1694Arg)
c.2590C>G
c.3944C>G (p.Pro1315Arg)
c.3371C>G (p.Pro1124Arg)
c.3317C>G (p.Pro1106Arg)
c.*85C>G (n.*85C>G)
c.3293C>G (p.Pro1098Arg)
c.857C>G
c.2918C>G (p.Pro973Arg)
n.1833C>G
n.935C>G
c.5051C>G (p.Pro1684Arg)
c.5093C>G (p.Pro1698Arg)
c.5072C>G (p.Pro1691Arg)
c.5066C>G (p.Pro1689Arg)
c.5045C>G (p.Pro1682Arg)
c.3956C>G (p.Pro1319Arg)
c.5054C>G (p.Pro1685Arg)
n.936C>G
11g.70473338G=CA1981068009SHANK2c.3314C= (p.Pro1105=)
c.859C= (n.859C=)
c.5081C= (p.Pro1694=)
c.2590C=
c.3944C= (p.Pro1315=)
c.3371C= (p.Pro1124=)
c.3317C= (p.Pro1106=)
c.*85C= (n.*85C=)
c.3293C= (p.Pro1098=)
c.857C=
c.2918C= (p.Pro973=)
n.1833C=
n.935C=
c.5051C= (p.Pro1684=)
c.5093C= (p.Pro1698=)
c.5072C= (p.Pro1691=)
c.5066C= (p.Pro1689=)
c.5045C= (p.Pro1682=)
c.3956C= (p.Pro1319=)
c.5054C= (p.Pro1685=)
n.936C=
11g.70473338G>TCA381676431SHANK2c.3314C>A (p.Pro1105His)
c.859C>A (n.859C>A)
c.5081C>A (p.Pro1694His)
c.2590C>A
c.3944C>A (p.Pro1315His)
c.3371C>A (p.Pro1124His)
c.3317C>A (p.Pro1106His)
c.*85C>A (n.*85C>A)
c.3293C>A (p.Pro1098His)
c.857C>A
c.2918C>A (p.Pro973His)
n.1833C>A
n.935C>A
c.5051C>A (p.Pro1684His)
c.5093C>A (p.Pro1698His)
c.5072C>A (p.Pro1691His)
c.5066C>A (p.Pro1689His)
c.5045C>A (p.Pro1682His)
c.3956C>A (p.Pro1319His)
c.5054C>A (p.Pro1685His)
n.936C>A
11g.70473339G>ACA381676432SHANK2c.3313C>T (p.Pro1105Ser)
c.858C>T (n.858C>T)
c.5080C>T (p.Pro1694Ser)
c.2589C>T
c.3943C>T (p.Pro1315Ser)
c.3370C>T (p.Pro1124Ser)
c.3316C>T (p.Pro1106Ser)
c.*84C>T (n.*84C>T)
c.3292C>T (p.Pro1098Ser)
c.856C>T
c.2917C>T (p.Pro973Ser)
n.1832C>T
n.934C>T
c.5050C>T (p.Pro1684Ser)
c.5092C>T (p.Pro1698Ser)
c.5071C>T (p.Pro1691Ser)
c.5065C>T (p.Pro1689Ser)
c.5044C>T (p.Pro1682Ser)
c.3955C>T (p.Pro1319Ser)
c.5053C>T (p.Pro1685Ser)
n.935C>T
11g.70473339G>CCA381676434SHANK2c.3313C>G (p.Pro1105Ala)
c.858C>G (n.858C>G)
c.5080C>G (p.Pro1694Ala)
c.2589C>G
c.3943C>G (p.Pro1315Ala)
c.3370C>G (p.Pro1124Ala)
c.3316C>G (p.Pro1106Ala)
c.*84C>G (n.*84C>G)
c.3292C>G (p.Pro1098Ala)
c.856C>G
c.2917C>G (p.Pro973Ala)
n.1832C>G
n.934C>G
c.5050C>G (p.Pro1684Ala)
c.5092C>G (p.Pro1698Ala)
c.5071C>G (p.Pro1691Ala)
c.5065C>G (p.Pro1689Ala)
c.5044C>G (p.Pro1682Ala)
c.3955C>G (p.Pro1319Ala)
c.5053C>G (p.Pro1685Ala)
n.935C>G
11g.70473339G>TCA381676433SHANK2c.3313C>A (p.Pro1105Thr)
c.858C>A (n.858C>A)
c.5080C>A (p.Pro1694Thr)
c.2589C>A
c.3943C>A (p.Pro1315Thr)
c.3370C>A (p.Pro1124Thr)
c.3316C>A (p.Pro1106Thr)
c.*84C>A (n.*84C>A)
c.3292C>A (p.Pro1098Thr)
c.856C>A
c.2917C>A (p.Pro973Thr)
n.1832C>A
n.934C>A
c.5050C>A (p.Pro1684Thr)
c.5092C>A (p.Pro1698Thr)
c.5071C>A (p.Pro1691Thr)
c.5065C>A (p.Pro1689Thr)
c.5044C>A (p.Pro1682Thr)
c.3955C>A (p.Pro1319Thr)
c.5053C>A (p.Pro1685Thr)
n.935C>A
 gnomAD v4
11g.70473340C>ACA475470758SHANK2c.3312G>T (p.Arg1104=)
c.857G>T (n.857G>T)
c.5079G>T (p.Arg1693=)
c.2588G>T
c.3942G>T (p.Arg1314=)
c.3369G>T (p.Arg1123=)
c.3315G>T (p.Arg1105=)
c.*83G>T (n.*83G>T)
c.3291G>T (p.Arg1097=)
c.855G>T
c.2916G>T (p.Arg972=)
n.1831G>T
n.933G>T
c.5049G>T (p.Arg1683=)
c.5091G>T (p.Arg1697=)
c.5070G>T (p.Arg1690=)
c.5064G>T (p.Arg1688=)
c.5043G>T (p.Arg1681=)
c.3954G>T (p.Arg1318=)
c.5052G>T (p.Arg1684=)
n.934G>T
11g.70473340C=CA1981068010SHANK2c.3312G= (p.Arg1104=)
c.857G= (n.857G=)
c.5079G= (p.Arg1693=)
c.2588G=
c.3942G= (p.Arg1314=)
c.3369G= (p.Arg1123=)
c.3315G= (p.Arg1105=)
c.*83G= (n.*83G=)
c.3291G= (p.Arg1097=)
c.855G=
c.2916G= (p.Arg972=)
n.1831G=
n.933G=
c.5049G= (p.Arg1683=)
c.5091G= (p.Arg1697=)
c.5070G= (p.Arg1690=)
c.5064G= (p.Arg1688=)
c.5043G= (p.Arg1681=)
c.3954G= (p.Arg1318=)
c.5052G= (p.Arg1684=)
n.934G=
11g.70473340C>GCA475470759SHANK2c.3312G>C (p.Arg1104=)
c.857G>C (n.857G>C)
c.5079G>C (p.Arg1693=)
c.2588G>C
c.3942G>C (p.Arg1314=)
c.3369G>C (p.Arg1123=)
c.3315G>C (p.Arg1105=)
c.*83G>C (n.*83G>C)
c.3291G>C (p.Arg1097=)
c.855G>C
c.2916G>C (p.Arg972=)
n.1831G>C
n.933G>C
c.5049G>C (p.Arg1683=)
c.5091G>C (p.Arg1697=)
c.5070G>C (p.Arg1690=)
c.5064G>C (p.Arg1688=)
c.5043G>C (p.Arg1681=)
c.3954G>C (p.Arg1318=)
c.5052G>C (p.Arg1684=)
n.934G>C
11g.70473340C>TCA475470760SHANK2c.3312G>A (p.Arg1104=)
c.857G>A (n.857G>A)
c.5079G>A (p.Arg1693=)
c.2588G>A
c.3942G>A (p.Arg1314=)
c.3369G>A (p.Arg1123=)
c.3315G>A (p.Arg1105=)
c.*83G>A (n.*83G>A)
c.3291G>A (p.Arg1097=)
c.855G>A
c.2916G>A (p.Arg972=)
n.1831G>A
n.933G>A
c.5049G>A (p.Arg1683=)
c.5091G>A (p.Arg1697=)
c.5070G>A (p.Arg1690=)
c.5064G>A (p.Arg1688=)
c.5043G>A (p.Arg1681=)
c.3954G>A (p.Arg1318=)
c.5052G>A (p.Arg1684=)
n.934G>A
 ClinVar dbSNP gnomAD v4
11g.70473341C>ACA381676435SHANK2c.3311G>T (p.Arg1104Leu)
c.856G>T (n.856G>T)
c.5078G>T (p.Arg1693Leu)
c.2587G>T
c.3941G>T (p.Arg1314Leu)
c.3368G>T (p.Arg1123Leu)
c.3314G>T (p.Arg1105Leu)
c.*82G>T (n.*82G>T)
c.3290G>T (p.Arg1097Leu)
c.854G>T
c.2915G>T (p.Arg972Leu)
n.1830G>T
n.932G>T
c.5048G>T (p.Arg1683Leu)
c.5090G>T (p.Arg1697Leu)
c.5069G>T (p.Arg1690Leu)
c.5063G>T (p.Arg1688Leu)
c.5042G>T (p.Arg1681Leu)
c.3953G>T (p.Arg1318Leu)
c.5051G>T (p.Arg1684Leu)
n.933G>T
 dbSNP
11g.70473341C=CA1981068011SHANK2c.3311G= (p.Arg1104=)
c.856G= (n.856G=)
c.5078G= (p.Arg1693=)
c.2587G=
c.3941G= (p.Arg1314=)
c.3368G= (p.Arg1123=)
c.3314G= (p.Arg1105=)
c.*82G= (n.*82G=)
c.3290G= (p.Arg1097=)
c.854G=
c.2915G= (p.Arg972=)
n.1830G=
n.932G=
c.5048G= (p.Arg1683=)
c.5090G= (p.Arg1697=)
c.5069G= (p.Arg1690=)
c.5063G= (p.Arg1688=)
c.5042G= (p.Arg1681=)
c.3953G= (p.Arg1318=)
c.5051G= (p.Arg1684=)
n.933G=
11g.70473341C>GCA381676436SHANK2c.3311G>C (p.Arg1104Pro)
c.856G>C (n.856G>C)
c.5078G>C (p.Arg1693Pro)
c.2587G>C
c.3941G>C (p.Arg1314Pro)
c.3368G>C (p.Arg1123Pro)
c.3314G>C (p.Arg1105Pro)
c.*82G>C (n.*82G>C)
c.3290G>C (p.Arg1097Pro)
c.854G>C
c.2915G>C (p.Arg972Pro)
n.1830G>C
n.932G>C
c.5048G>C (p.Arg1683Pro)
c.5090G>C (p.Arg1697Pro)
c.5069G>C (p.Arg1690Pro)
c.5063G>C (p.Arg1688Pro)
c.5042G>C (p.Arg1681Pro)
c.3953G>C (p.Arg1318Pro)
c.5051G>C (p.Arg1684Pro)
n.933G>C
11g.70473341C>TCA6160776SHANK2c.3311G>A (p.Arg1104Gln)
c.856G>A (n.856G>A)
c.5078G>A (p.Arg1693Gln)
c.2587G>A
c.3941G>A (p.Arg1314Gln)
c.3368G>A (p.Arg1123Gln)
c.3314G>A (p.Arg1105Gln)
c.*82G>A (n.*82G>A)
c.3290G>A (p.Arg1097Gln)
c.854G>A
c.2915G>A (p.Arg972Gln)
n.1830G>A
n.932G>A
c.5048G>A (p.Arg1683Gln)
c.5090G>A (p.Arg1697Gln)
c.5069G>A (p.Arg1690Gln)
c.5063G>A (p.Arg1688Gln)
c.5042G>A (p.Arg1681Gln)
c.3953G>A (p.Arg1318Gln)
c.5051G>A (p.Arg1684Gln)
n.933G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473342G>ACA6160777SHANK2c.3310C>T (p.Arg1104Trp)
c.855C>T (n.855C>T)
c.5077C>T (p.Arg1693Trp)
c.2586C>T
c.3940C>T (p.Arg1314Trp)
c.3367C>T (p.Arg1123Trp)
c.3313C>T (p.Arg1105Trp)
c.*81C>T (n.*81C>T)
c.3289C>T (p.Arg1097Trp)
c.853C>T
c.2914C>T (p.Arg972Trp)
n.1829C>T
n.931C>T
c.5047C>T (p.Arg1683Trp)
c.5089C>T (p.Arg1697Trp)
c.5068C>T (p.Arg1690Trp)
c.5062C>T (p.Arg1688Trp)
c.5041C>T (p.Arg1681Trp)
c.3952C>T (p.Arg1318Trp)
c.5050C>T (p.Arg1684Trp)
n.932C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473342G>CCA381676437SHANK2c.3310C>G (p.Arg1104Gly)
c.855C>G (n.855C>G)
c.5077C>G (p.Arg1693Gly)
c.2586C>G
c.3940C>G (p.Arg1314Gly)
c.3367C>G (p.Arg1123Gly)
c.3313C>G (p.Arg1105Gly)
c.*81C>G (n.*81C>G)
c.3289C>G (p.Arg1097Gly)
c.853C>G
c.2914C>G (p.Arg972Gly)
n.1829C>G
n.931C>G
c.5047C>G (p.Arg1683Gly)
c.5089C>G (p.Arg1697Gly)
c.5068C>G (p.Arg1690Gly)
c.5062C>G (p.Arg1688Gly)
c.5041C>G (p.Arg1681Gly)
c.3952C>G (p.Arg1318Gly)
c.5050C>G (p.Arg1684Gly)
n.932C>G
11g.70473342G=CA1981068012SHANK2c.3310C= (p.Arg1104=)
c.855C= (n.855C=)
c.5077C= (p.Arg1693=)
c.2586C=
c.3940C= (p.Arg1314=)
c.3367C= (p.Arg1123=)
c.3313C= (p.Arg1105=)
c.*81C= (n.*81C=)
c.3289C= (p.Arg1097=)
c.853C=
c.2914C= (p.Arg972=)
n.1829C=
n.931C=
c.5047C= (p.Arg1683=)
c.5089C= (p.Arg1697=)
c.5068C= (p.Arg1690=)
c.5062C= (p.Arg1688=)
c.5041C= (p.Arg1681=)
c.3952C= (p.Arg1318=)
c.5050C= (p.Arg1684=)
n.932C=
11g.70473342G>TCA475470761SHANK2c.3310C>A (p.Arg1104=)
c.855C>A (n.855C>A)
c.5077C>A (p.Arg1693=)
c.2586C>A
c.3940C>A (p.Arg1314=)
c.3367C>A (p.Arg1123=)
c.3313C>A (p.Arg1105=)
c.*81C>A (n.*81C>A)
c.3289C>A (p.Arg1097=)
c.853C>A
c.2914C>A (p.Arg972=)
n.1829C>A
n.931C>A
c.5047C>A (p.Arg1683=)
c.5089C>A (p.Arg1697=)
c.5068C>A (p.Arg1690=)
c.5062C>A (p.Arg1688=)
c.5041C>A (p.Arg1681=)
c.3952C>A (p.Arg1318=)
c.5050C>A (p.Arg1684=)
n.932C>A
11g.70473343G>ACA475470762SHANK2c.3309C>T (p.Ser1103=)
c.854C>T (n.854C>T)
c.5076C>T (p.Ser1692=)
c.2585C>T
c.3939C>T (p.Ser1313=)
c.3366C>T (p.Ser1122=)
c.3312C>T (p.Ser1104=)
c.*80C>T (n.*80C>T)
c.3288C>T (p.Ser1096=)
c.852C>T
c.2913C>T (p.Ser971=)
n.1828C>T
n.930C>T
c.5046C>T (p.Ser1682=)
c.5088C>T (p.Ser1696=)
c.5067C>T (p.Ser1689=)
c.5061C>T (p.Ser1687=)
c.5040C>T (p.Ser1680=)
c.3951C>T (p.Ser1317=)
c.5049C>T (p.Ser1683=)
n.931C>T
 dbSNP
11g.70473343G>CCA381676438SHANK2c.3309C>G (p.Ser1103Arg)
c.854C>G (n.854C>G)
c.5076C>G (p.Ser1692Arg)
c.2585C>G
c.3939C>G (p.Ser1313Arg)
c.3366C>G (p.Ser1122Arg)
c.3312C>G (p.Ser1104Arg)
c.*80C>G (n.*80C>G)
c.3288C>G (p.Ser1096Arg)
c.852C>G
c.2913C>G (p.Ser971Arg)
n.1828C>G
n.930C>G
c.5046C>G (p.Ser1682Arg)
c.5088C>G (p.Ser1696Arg)
c.5067C>G (p.Ser1689Arg)
c.5061C>G (p.Ser1687Arg)
c.5040C>G (p.Ser1680Arg)
c.3951C>G (p.Ser1317Arg)
c.5049C>G (p.Ser1683Arg)
n.931C>G
11g.70473343G=CA1981068013SHANK2c.3309C= (p.Ser1103=)
c.854C= (n.854C=)
c.5076C= (p.Ser1692=)
c.2585C=
c.3939C= (p.Ser1313=)
c.3366C= (p.Ser1122=)
c.3312C= (p.Ser1104=)
c.*80C= (n.*80C=)
c.3288C= (p.Ser1096=)
c.852C=
c.2913C= (p.Ser971=)
n.1828C=
n.930C=
c.5046C= (p.Ser1682=)
c.5088C= (p.Ser1696=)
c.5067C= (p.Ser1689=)
c.5061C= (p.Ser1687=)
c.5040C= (p.Ser1680=)
c.3951C= (p.Ser1317=)
c.5049C= (p.Ser1683=)
n.931C=
11g.70473343G>TCA381676439SHANK2c.3309C>A (p.Ser1103Arg)
c.854C>A (n.854C>A)
c.5076C>A (p.Ser1692Arg)
c.2585C>A
c.3939C>A (p.Ser1313Arg)
c.3366C>A (p.Ser1122Arg)
c.3312C>A (p.Ser1104Arg)
c.*80C>A (n.*80C>A)
c.3288C>A (p.Ser1096Arg)
c.852C>A
c.2913C>A (p.Ser971Arg)
n.1828C>A
n.930C>A
c.5046C>A (p.Ser1682Arg)
c.5088C>A (p.Ser1696Arg)
c.5067C>A (p.Ser1689Arg)
c.5061C>A (p.Ser1687Arg)
c.5040C>A (p.Ser1680Arg)
c.3951C>A (p.Ser1317Arg)
c.5049C>A (p.Ser1683Arg)
n.931C>A
 gnomAD v4
11g.70473344C>ACA381676440SHANK2c.3308G>T (p.Ser1103Ile)
c.853G>T (n.853G>T)
c.5075G>T (p.Ser1692Ile)
c.2584G>T
c.3938G>T (p.Ser1313Ile)
c.3365G>T (p.Ser1122Ile)
c.3311G>T (p.Ser1104Ile)
c.*79G>T (n.*79G>T)
c.3287G>T (p.Ser1096Ile)
c.851G>T
c.2912G>T (p.Ser971Ile)
n.1827G>T
n.929G>T
c.5045G>T (p.Ser1682Ile)
c.5087G>T (p.Ser1696Ile)
c.5066G>T (p.Ser1689Ile)
c.5060G>T (p.Ser1687Ile)
c.5039G>T (p.Ser1680Ile)
c.3950G>T (p.Ser1317Ile)
c.5048G>T (p.Ser1683Ile)
n.930G>T
11g.70473344C=CA1981068014SHANK2c.3308G= (p.Ser1103=)
c.853G= (n.853G=)
c.5075G= (p.Ser1692=)
c.2584G=
c.3938G= (p.Ser1313=)
c.3365G= (p.Ser1122=)
c.3311G= (p.Ser1104=)
c.*79G= (n.*79G=)
c.3287G= (p.Ser1096=)
c.851G=
c.2912G= (p.Ser971=)
n.1827G=
n.929G=
c.5045G= (p.Ser1682=)
c.5087G= (p.Ser1696=)
c.5066G= (p.Ser1689=)
c.5060G= (p.Ser1687=)
c.5039G= (p.Ser1680=)
c.3950G= (p.Ser1317=)
c.5048G= (p.Ser1683=)
n.930G=
11g.70473344C>GCA381676441SHANK2c.3308G>C (p.Ser1103Thr)
c.853G>C (n.853G>C)
c.5075G>C (p.Ser1692Thr)
c.2584G>C
c.3938G>C (p.Ser1313Thr)
c.3365G>C (p.Ser1122Thr)
c.3311G>C (p.Ser1104Thr)
c.*79G>C (n.*79G>C)
c.3287G>C (p.Ser1096Thr)
c.851G>C
c.2912G>C (p.Ser971Thr)
n.1827G>C
n.929G>C
c.5045G>C (p.Ser1682Thr)
c.5087G>C (p.Ser1696Thr)
c.5066G>C (p.Ser1689Thr)
c.5060G>C (p.Ser1687Thr)
c.5039G>C (p.Ser1680Thr)
c.3950G>C (p.Ser1317Thr)
c.5048G>C (p.Ser1683Thr)
n.930G>C
11g.70473344C>TCA381676442SHANK2c.3308G>A (p.Ser1103Asn)
c.853G>A (n.853G>A)
c.5075G>A (p.Ser1692Asn)
c.2584G>A
c.3938G>A (p.Ser1313Asn)
c.3365G>A (p.Ser1122Asn)
c.3311G>A (p.Ser1104Asn)
c.*79G>A (n.*79G>A)
c.3287G>A (p.Ser1096Asn)
c.851G>A
c.2912G>A (p.Ser971Asn)
n.1827G>A
n.929G>A
c.5045G>A (p.Ser1682Asn)
c.5087G>A (p.Ser1696Asn)
c.5066G>A (p.Ser1689Asn)
c.5060G>A (p.Ser1687Asn)
c.5039G>A (p.Ser1680Asn)
c.3950G>A (p.Ser1317Asn)
c.5048G>A (p.Ser1683Asn)
n.930G>A
 dbSNP
11g.70473345T>ACA381676443SHANK2c.3307A>T (p.Ser1103Cys)
c.852A>T (n.852A>T)
c.5074A>T (p.Ser1692Cys)
c.2583A>T
c.3937A>T (p.Ser1313Cys)
c.3364A>T (p.Ser1122Cys)
c.3310A>T (p.Ser1104Cys)
c.*78A>T (n.*78A>T)
c.3286A>T (p.Ser1096Cys)
c.850A>T
c.2911A>T (p.Ser971Cys)
n.1826A>T
n.928A>T
c.5044A>T (p.Ser1682Cys)
c.5086A>T (p.Ser1696Cys)
c.5065A>T (p.Ser1689Cys)
c.5059A>T (p.Ser1687Cys)
c.5038A>T (p.Ser1680Cys)
c.3949A>T (p.Ser1317Cys)
c.5047A>T (p.Ser1683Cys)
n.929A>T
11g.70473345T>CCA381676444SHANK2c.3307A>G (p.Ser1103Gly)
c.852A>G (n.852A>G)
c.5074A>G (p.Ser1692Gly)
c.2583A>G
c.3937A>G (p.Ser1313Gly)
c.3364A>G (p.Ser1122Gly)
c.3310A>G (p.Ser1104Gly)
c.*78A>G (n.*78A>G)
c.3286A>G (p.Ser1096Gly)
c.850A>G
c.2911A>G (p.Ser971Gly)
n.1826A>G
n.928A>G
c.5044A>G (p.Ser1682Gly)
c.5086A>G (p.Ser1696Gly)
c.5065A>G (p.Ser1689Gly)
c.5059A>G (p.Ser1687Gly)
c.5038A>G (p.Ser1680Gly)
c.3949A>G (p.Ser1317Gly)
c.5047A>G (p.Ser1683Gly)
n.929A>G
11g.70473345T>GCA381676445SHANK2c.3307A>C (p.Ser1103Arg)
c.852A>C (n.852A>C)
c.5074A>C (p.Ser1692Arg)
c.2583A>C
c.3937A>C (p.Ser1313Arg)
c.3364A>C (p.Ser1122Arg)
c.3310A>C (p.Ser1104Arg)
c.*78A>C (n.*78A>C)
c.3286A>C (p.Ser1096Arg)
c.850A>C
c.2911A>C (p.Ser971Arg)
n.1826A>C
n.928A>C
c.5044A>C (p.Ser1682Arg)
c.5086A>C (p.Ser1696Arg)
c.5065A>C (p.Ser1689Arg)
c.5059A>C (p.Ser1687Arg)
c.5038A>C (p.Ser1680Arg)
c.3949A>C (p.Ser1317Arg)
c.5047A>C (p.Ser1683Arg)
n.929A>C
11g.70473346C>ACA381676448SHANK2c.3306G>T (p.Gln1102His)
c.851G>T (n.851G>T)
c.5073G>T (p.Gln1691His)
c.2582G>T
c.3936G>T (p.Gln1312His)
c.3363G>T (p.Gln1121His)
c.3309G>T (p.Gln1103His)
c.*77G>T (n.*77G>T)
c.3285G>T (p.Gln1095His)
c.849G>T
c.2910G>T (p.Gln970His)
n.1825G>T
n.927G>T
c.5043G>T (p.Gln1681His)
c.5085G>T (p.Gln1695His)
c.5064G>T (p.Gln1688His)
c.5058G>T (p.Gln1686His)
c.5037G>T (p.Gln1679His)
c.3948G>T (p.Gln1316His)
c.5046G>T (p.Gln1682His)
n.928G>T
11g.70473346C=CA1981068015SHANK2c.3306G= (p.Gln1102=)
c.851G= (n.851G=)
c.5073G= (p.Gln1691=)
c.2582G=
c.3936G= (p.Gln1312=)
c.3363G= (p.Gln1121=)
c.3309G= (p.Gln1103=)
c.*77G= (n.*77G=)
c.3285G= (p.Gln1095=)
c.849G=
c.2910G= (p.Gln970=)
n.1825G=
n.927G=
c.5043G= (p.Gln1681=)
c.5085G= (p.Gln1695=)
c.5064G= (p.Gln1688=)
c.5058G= (p.Gln1686=)
c.5037G= (p.Gln1679=)
c.3948G= (p.Gln1316=)
c.5046G= (p.Gln1682=)
n.928G=
11g.70473346C>GCA381676446SHANK2c.3306G>C (p.Gln1102His)
c.851G>C (n.851G>C)
c.5073G>C (p.Gln1691His)
c.2582G>C
c.3936G>C (p.Gln1312His)
c.3363G>C (p.Gln1121His)
c.3309G>C (p.Gln1103His)
c.*77G>C (n.*77G>C)
c.3285G>C (p.Gln1095His)
c.849G>C
c.2910G>C (p.Gln970His)
n.1825G>C
n.927G>C
c.5043G>C (p.Gln1681His)
c.5085G>C (p.Gln1695His)
c.5064G>C (p.Gln1688His)
c.5058G>C (p.Gln1686His)
c.5037G>C (p.Gln1679His)
c.3948G>C (p.Gln1316His)
c.5046G>C (p.Gln1682His)
n.928G>C
11g.70473346C>TCA475470763SHANK2c.3306G>A (p.Gln1102=)
c.851G>A (n.851G>A)
c.5073G>A (p.Gln1691=)
c.2582G>A
c.3936G>A (p.Gln1312=)
c.3363G>A (p.Gln1121=)
c.3309G>A (p.Gln1103=)
c.*77G>A (n.*77G>A)
c.3285G>A (p.Gln1095=)
c.849G>A
c.2910G>A (p.Gln970=)
n.1825G>A
n.927G>A
c.5043G>A (p.Gln1681=)
c.5085G>A (p.Gln1695=)
c.5064G>A (p.Gln1688=)
c.5058G>A (p.Gln1686=)
c.5037G>A (p.Gln1679=)
c.3948G>A (p.Gln1316=)
c.5046G>A (p.Gln1682=)
n.928G>A
 dbSNP COSMIC COSMIC
11g.70473347T>ACA381676449SHANK2c.3305A>T (p.Gln1102Leu)
c.850A>T (n.850A>T)
c.5072A>T (p.Gln1691Leu)
c.2581A>T
c.3935A>T (p.Gln1312Leu)
c.3362A>T (p.Gln1121Leu)
c.3308A>T (p.Gln1103Leu)
c.*76A>T (n.*76A>T)
c.3284A>T (p.Gln1095Leu)
c.848A>T
c.2909A>T (p.Gln970Leu)
n.1824A>T
n.926A>T
c.5042A>T (p.Gln1681Leu)
c.5084A>T (p.Gln1695Leu)
c.5063A>T (p.Gln1688Leu)
c.5057A>T (p.Gln1686Leu)
c.5036A>T (p.Gln1679Leu)
c.3947A>T (p.Gln1316Leu)
c.5045A>T (p.Gln1682Leu)
n.927A>T
11g.70473347T>CCA381676451SHANK2c.3305A>G (p.Gln1102Arg)
c.850A>G (n.850A>G)
c.5072A>G (p.Gln1691Arg)
c.2581A>G
c.3935A>G (p.Gln1312Arg)
c.3362A>G (p.Gln1121Arg)
c.3308A>G (p.Gln1103Arg)
c.*76A>G (n.*76A>G)
c.3284A>G (p.Gln1095Arg)
c.848A>G
c.2909A>G (p.Gln970Arg)
n.1824A>G
n.926A>G
c.5042A>G (p.Gln1681Arg)
c.5084A>G (p.Gln1695Arg)
c.5063A>G (p.Gln1688Arg)
c.5057A>G (p.Gln1686Arg)
c.5036A>G (p.Gln1679Arg)
c.3947A>G (p.Gln1316Arg)
c.5045A>G (p.Gln1682Arg)
n.927A>G
 gnomAD v4
11g.70473347T>GCA381676453SHANK2c.3305A>C (p.Gln1102Pro)
c.850A>C (n.850A>C)
c.5072A>C (p.Gln1691Pro)
c.2581A>C
c.3935A>C (p.Gln1312Pro)
c.3362A>C (p.Gln1121Pro)
c.3308A>C (p.Gln1103Pro)
c.*76A>C (n.*76A>C)
c.3284A>C (p.Gln1095Pro)
c.848A>C
c.2909A>C (p.Gln970Pro)
n.1824A>C
n.926A>C
c.5042A>C (p.Gln1681Pro)
c.5084A>C (p.Gln1695Pro)
c.5063A>C (p.Gln1688Pro)
c.5057A>C (p.Gln1686Pro)
c.5036A>C (p.Gln1679Pro)
c.3947A>C (p.Gln1316Pro)
c.5045A>C (p.Gln1682Pro)
n.927A>C
11g.70473348G>ACA381676455SHANK2c.3304C>T (p.Gln1102Ter)
c.849C>T (n.849C>T)
c.5071C>T (p.Gln1691Ter)
c.2580C>T
c.3934C>T (p.Gln1312Ter)
c.3361C>T (p.Gln1121Ter)
c.3307C>T (p.Gln1103Ter)
c.*75C>T (n.*75C>T)
c.3283C>T (p.Gln1095Ter)
c.847C>T
c.2908C>T (p.Gln970Ter)
n.1823C>T
n.925C>T
c.5041C>T (p.Gln1681Ter)
c.5083C>T (p.Gln1695Ter)
c.5062C>T (p.Gln1688Ter)
c.5056C>T (p.Gln1686Ter)
c.5035C>T (p.Gln1679Ter)
c.3946C>T (p.Gln1316Ter)
c.5044C>T (p.Gln1682Ter)
n.926C>T
11g.70473348G>CCA381676457SHANK2c.3304C>G (p.Gln1102Glu)
c.849C>G (n.849C>G)
c.5071C>G (p.Gln1691Glu)
c.2580C>G
c.3934C>G (p.Gln1312Glu)
c.3361C>G (p.Gln1121Glu)
c.3307C>G (p.Gln1103Glu)
c.*75C>G (n.*75C>G)
c.3283C>G (p.Gln1095Glu)
c.847C>G
c.2908C>G (p.Gln970Glu)
n.1823C>G
n.925C>G
c.5041C>G (p.Gln1681Glu)
c.5083C>G (p.Gln1695Glu)
c.5062C>G (p.Gln1688Glu)
c.5056C>G (p.Gln1686Glu)
c.5035C>G (p.Gln1679Glu)
c.3946C>G (p.Gln1316Glu)
c.5044C>G (p.Gln1682Glu)
n.926C>G
11g.70473348G=CA1981068016SHANK2c.3304C= (p.Gln1102=)
c.849C= (n.849C=)
c.5071C= (p.Gln1691=)
c.2580C=
c.3934C= (p.Gln1312=)
c.3361C= (p.Gln1121=)
c.3307C= (p.Gln1103=)
c.*75C= (n.*75C=)
c.3283C= (p.Gln1095=)
c.847C=
c.2908C= (p.Gln970=)
n.1823C=
n.925C=
c.5041C= (p.Gln1681=)
c.5083C= (p.Gln1695=)
c.5062C= (p.Gln1688=)
c.5056C= (p.Gln1686=)
c.5035C= (p.Gln1679=)
c.3946C= (p.Gln1316=)
c.5044C= (p.Gln1682=)
n.926C=
11g.70473348G>TCA223591866SHANK2c.3304C>A (p.Gln1102Lys)
c.849C>A (n.849C>A)
c.5071C>A (p.Gln1691Lys)
c.2580C>A
c.3934C>A (p.Gln1312Lys)
c.3361C>A (p.Gln1121Lys)
c.3307C>A (p.Gln1103Lys)
c.*75C>A (n.*75C>A)
c.3283C>A (p.Gln1095Lys)
c.847C>A
c.2908C>A (p.Gln970Lys)
n.1823C>A
n.925C>A
c.5041C>A (p.Gln1681Lys)
c.5083C>A (p.Gln1695Lys)
c.5062C>A (p.Gln1688Lys)
c.5056C>A (p.Gln1686Lys)
c.5035C>A (p.Gln1679Lys)
c.3946C>A (p.Gln1316Lys)
c.5044C>A (p.Gln1682Lys)
n.926C>A
 dbSNP
11g.70473349C>ACA475470766SHANK2c.3303G>T (p.Leu1101=)
c.848G>T (n.848G>T)
c.5070G>T (p.Leu1690=)
c.2579G>T
c.3933G>T (p.Leu1311=)
c.3360G>T (p.Leu1120=)
c.3306G>T (p.Leu1102=)
c.*74G>T (n.*74G>T)
c.3282G>T (p.Leu1094=)
c.846G>T
c.2907G>T (p.Leu969=)
n.1822G>T
n.924G>T
c.5040G>T (p.Leu1680=)
c.5082G>T (p.Leu1694=)
c.5061G>T (p.Leu1687=)
c.5055G>T (p.Leu1685=)
c.5034G>T (p.Leu1678=)
c.3945G>T (p.Leu1315=)
c.5043G>T (p.Leu1681=)
n.925G>T
11g.70473349C=CA1981068017SHANK2c.3303G= (p.Leu1101=)
c.848G= (n.848G=)
c.5070G= (p.Leu1690=)
c.2579G=
c.3933G= (p.Leu1311=)
c.3360G= (p.Leu1120=)
c.3306G= (p.Leu1102=)
c.*74G= (n.*74G=)
c.3282G= (p.Leu1094=)
c.846G=
c.2907G= (p.Leu969=)
n.1822G=
n.924G=
c.5040G= (p.Leu1680=)
c.5082G= (p.Leu1694=)
c.5061G= (p.Leu1687=)
c.5055G= (p.Leu1685=)
c.5034G= (p.Leu1678=)
c.3945G= (p.Leu1315=)
c.5043G= (p.Leu1681=)
n.925G=
11g.70473349C>GCA475470765SHANK2c.3303G>C (p.Leu1101=)
c.848G>C (n.848G>C)
c.5070G>C (p.Leu1690=)
c.2579G>C
c.3933G>C (p.Leu1311=)
c.3360G>C (p.Leu1120=)
c.3306G>C (p.Leu1102=)
c.*74G>C (n.*74G>C)
c.3282G>C (p.Leu1094=)
c.846G>C
c.2907G>C (p.Leu969=)
n.1822G>C
n.924G>C
c.5040G>C (p.Leu1680=)
c.5082G>C (p.Leu1694=)
c.5061G>C (p.Leu1687=)
c.5055G>C (p.Leu1685=)
c.5034G>C (p.Leu1678=)
c.3945G>C (p.Leu1315=)
c.5043G>C (p.Leu1681=)
n.925G>C
11g.70473349C>TCA475470764SHANK2c.3303G>A (p.Leu1101=)
c.848G>A (n.848G>A)
c.5070G>A (p.Leu1690=)
c.2579G>A
c.3933G>A (p.Leu1311=)
c.3360G>A (p.Leu1120=)
c.3306G>A (p.Leu1102=)
c.*74G>A (n.*74G>A)
c.3282G>A (p.Leu1094=)
c.846G>A
c.2907G>A (p.Leu969=)
n.1822G>A
n.924G>A
c.5040G>A (p.Leu1680=)
c.5082G>A (p.Leu1694=)
c.5061G>A (p.Leu1687=)
c.5055G>A (p.Leu1685=)
c.5034G>A (p.Leu1678=)
c.3945G>A (p.Leu1315=)
c.5043G>A (p.Leu1681=)
n.925G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473350A>CCA381676460SHANK2c.3302T>G (p.Leu1101Arg)
c.847T>G (n.847T>G)
c.5069T>G (p.Leu1690Arg)
c.2578T>G
c.3932T>G (p.Leu1311Arg)
c.3359T>G (p.Leu1120Arg)
c.3305T>G (p.Leu1102Arg)
c.*73T>G (n.*73T>G)
c.3281T>G (p.Leu1094Arg)
c.845T>G
c.2906T>G (p.Leu969Arg)
n.1821T>G
n.923T>G
c.5039T>G (p.Leu1680Arg)
c.5081T>G (p.Leu1694Arg)
c.5060T>G (p.Leu1687Arg)
c.5054T>G (p.Leu1685Arg)
c.5033T>G (p.Leu1678Arg)
c.3944T>G (p.Leu1315Arg)
c.5042T>G (p.Leu1681Arg)
n.924T>G
11g.70473350A>GCA381676462SHANK2c.3302T>C (p.Leu1101Pro)
c.847T>C (n.847T>C)
c.5069T>C (p.Leu1690Pro)
c.2578T>C
c.3932T>C (p.Leu1311Pro)
c.3359T>C (p.Leu1120Pro)
c.3305T>C (p.Leu1102Pro)
c.*73T>C (n.*73T>C)
c.3281T>C (p.Leu1094Pro)
c.845T>C
c.2906T>C (p.Leu969Pro)
n.1821T>C
n.923T>C
c.5039T>C (p.Leu1680Pro)
c.5081T>C (p.Leu1694Pro)
c.5060T>C (p.Leu1687Pro)
c.5054T>C (p.Leu1685Pro)
c.5033T>C (p.Leu1678Pro)
c.3944T>C (p.Leu1315Pro)
c.5042T>C (p.Leu1681Pro)
n.924T>C
11g.70473350A>TCA381676464SHANK2c.3302T>A (p.Leu1101Gln)
c.847T>A (n.847T>A)
c.5069T>A (p.Leu1690Gln)
c.2578T>A
c.3932T>A (p.Leu1311Gln)
c.3359T>A (p.Leu1120Gln)
c.3305T>A (p.Leu1102Gln)
c.*73T>A (n.*73T>A)
c.3281T>A (p.Leu1094Gln)
c.845T>A
c.2906T>A (p.Leu969Gln)
n.1821T>A
n.923T>A
c.5039T>A (p.Leu1680Gln)
c.5081T>A (p.Leu1694Gln)
c.5060T>A (p.Leu1687Gln)
c.5054T>A (p.Leu1685Gln)
c.5033T>A (p.Leu1678Gln)
c.3944T>A (p.Leu1315Gln)
c.5042T>A (p.Leu1681Gln)
n.924T>A
11g.70473351G>ACA475470767SHANK2c.3301C>T (p.Leu1101=)
c.846C>T (n.846C>T)
c.5068C>T (p.Leu1690=)
c.2577C>T
c.3931C>T (p.Leu1311=)
c.3358C>T (p.Leu1120=)
c.3304C>T (p.Leu1102=)
c.*72C>T (n.*72C>T)
c.3280C>T (p.Leu1094=)
c.844C>T
c.2905C>T (p.Leu969=)
n.1820C>T
n.922C>T
c.5038C>T (p.Leu1680=)
c.5080C>T (p.Leu1694=)
c.5059C>T (p.Leu1687=)
c.5053C>T (p.Leu1685=)
c.5032C>T (p.Leu1678=)
c.3943C>T (p.Leu1315=)
c.5041C>T (p.Leu1681=)
n.923C>T
11g.70473351G>CCA381676466SHANK2c.3301C>G (p.Leu1101Val)
c.846C>G (n.846C>G)
c.5068C>G (p.Leu1690Val)
c.2577C>G
c.3931C>G (p.Leu1311Val)
c.3358C>G (p.Leu1120Val)
c.3304C>G (p.Leu1102Val)
c.*72C>G (n.*72C>G)
c.3280C>G (p.Leu1094Val)
c.844C>G
c.2905C>G (p.Leu969Val)
n.1820C>G
n.922C>G
c.5038C>G (p.Leu1680Val)
c.5080C>G (p.Leu1694Val)
c.5059C>G (p.Leu1687Val)
c.5053C>G (p.Leu1685Val)
c.5032C>G (p.Leu1678Val)
c.3943C>G (p.Leu1315Val)
c.5041C>G (p.Leu1681Val)
n.923C>G
 gnomAD v4
11g.70473351G>TCA381676468SHANK2c.3301C>A (p.Leu1101Met)
c.846C>A (n.846C>A)
c.5068C>A (p.Leu1690Met)
c.2577C>A
c.3931C>A (p.Leu1311Met)
c.3358C>A (p.Leu1120Met)
c.3304C>A (p.Leu1102Met)
c.*72C>A (n.*72C>A)
c.3280C>A (p.Leu1094Met)
c.844C>A
c.2905C>A (p.Leu969Met)
n.1820C>A
n.922C>A
c.5038C>A (p.Leu1680Met)
c.5080C>A (p.Leu1694Met)
c.5059C>A (p.Leu1687Met)
c.5053C>A (p.Leu1685Met)
c.5032C>A (p.Leu1678Met)
c.3943C>A (p.Leu1315Met)
c.5041C>A (p.Leu1681Met)
n.923C>A
11g.70473352G>ACA475470768SHANK2c.3300C>T (p.Thr1100=)
c.845C>T (n.845C>T)
c.5067C>T (p.Thr1689=)
c.2576C>T
c.3930C>T (p.Thr1310=)
c.3357C>T (p.Thr1119=)
c.3303C>T (p.Thr1101=)
c.*71C>T (n.*71C>T)
c.3279C>T (p.Thr1093=)
c.843C>T
c.2904C>T (p.Thr968=)
n.1819C>T
n.921C>T
c.5037C>T (p.Thr1679=)
c.5079C>T (p.Thr1693=)
c.5058C>T (p.Thr1686=)
c.5052C>T (p.Thr1684=)
c.5031C>T (p.Thr1677=)
c.3942C>T (p.Thr1314=)
c.5040C>T (p.Thr1680=)
n.922C>T
11g.70473352G>CCA475470769SHANK2c.3300C>G (p.Thr1100=)
c.845C>G (n.845C>G)
c.5067C>G (p.Thr1689=)
c.2576C>G
c.3930C>G (p.Thr1310=)
c.3357C>G (p.Thr1119=)
c.3303C>G (p.Thr1101=)
c.*71C>G (n.*71C>G)
c.3279C>G (p.Thr1093=)
c.843C>G
c.2904C>G (p.Thr968=)
n.1819C>G
n.921C>G
c.5037C>G (p.Thr1679=)
c.5079C>G (p.Thr1693=)
c.5058C>G (p.Thr1686=)
c.5052C>G (p.Thr1684=)
c.5031C>G (p.Thr1677=)
c.3942C>G (p.Thr1314=)
c.5040C>G (p.Thr1680=)
n.922C>G
11g.70473352G>TCA475470770SHANK2c.3300C>A (p.Thr1100=)
c.845C>A (n.845C>A)
c.5067C>A (p.Thr1689=)
c.2576C>A
c.3930C>A (p.Thr1310=)
c.3357C>A (p.Thr1119=)
c.3303C>A (p.Thr1101=)
c.*71C>A (n.*71C>A)
c.3279C>A (p.Thr1093=)
c.843C>A
c.2904C>A (p.Thr968=)
n.1819C>A
n.921C>A
c.5037C>A (p.Thr1679=)
c.5079C>A (p.Thr1693=)
c.5058C>A (p.Thr1686=)
c.5052C>A (p.Thr1684=)
c.5031C>A (p.Thr1677=)
c.3942C>A (p.Thr1314=)
c.5040C>A (p.Thr1680=)
n.922C>A
 gnomAD v4
11g.70473353G>ACA381676472SHANK2c.3299C>T (p.Thr1100Ile)
c.844C>T (n.844C>T)
c.5066C>T (p.Thr1689Ile)
c.2575C>T
c.3929C>T (p.Thr1310Ile)
c.3356C>T (p.Thr1119Ile)
c.3302C>T (p.Thr1101Ile)
c.*70C>T (n.*70C>T)
c.3278C>T (p.Thr1093Ile)
c.842C>T
c.2903C>T (p.Thr968Ile)
n.1818C>T
n.920C>T
c.5036C>T (p.Thr1679Ile)
c.5078C>T (p.Thr1693Ile)
c.5057C>T (p.Thr1686Ile)
c.5051C>T (p.Thr1684Ile)
c.5030C>T (p.Thr1677Ile)
c.3941C>T (p.Thr1314Ile)
c.5039C>T (p.Thr1680Ile)
n.921C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70473353G>CCA381676474SHANK2c.3299C>G (p.Thr1100Ser)
c.844C>G (n.844C>G)
c.5066C>G (p.Thr1689Ser)
c.2575C>G
c.3929C>G (p.Thr1310Ser)
c.3356C>G (p.Thr1119Ser)
c.3302C>G (p.Thr1101Ser)
c.*70C>G (n.*70C>G)
c.3278C>G (p.Thr1093Ser)
c.842C>G
c.2903C>G (p.Thr968Ser)
n.1818C>G
n.920C>G
c.5036C>G (p.Thr1679Ser)
c.5078C>G (p.Thr1693Ser)
c.5057C>G (p.Thr1686Ser)
c.5051C>G (p.Thr1684Ser)
c.5030C>G (p.Thr1677Ser)
c.3941C>G (p.Thr1314Ser)
c.5039C>G (p.Thr1680Ser)
n.921C>G
11g.70473353G=CA1981068018SHANK2c.3299C= (p.Thr1100=)
c.844C= (n.844C=)
c.5066C= (p.Thr1689=)
c.2575C=
c.3929C= (p.Thr1310=)
c.3356C= (p.Thr1119=)
c.3302C= (p.Thr1101=)
c.*70C= (n.*70C=)
c.3278C= (p.Thr1093=)
c.842C=
c.2903C= (p.Thr968=)
n.1818C=
n.920C=
c.5036C= (p.Thr1679=)
c.5078C= (p.Thr1693=)
c.5057C= (p.Thr1686=)
c.5051C= (p.Thr1684=)
c.5030C= (p.Thr1677=)
c.3941C= (p.Thr1314=)
c.5039C= (p.Thr1680=)
n.921C=
11g.70473353G>TCA381676471SHANK2c.3299C>A (p.Thr1100Asn)
c.844C>A (n.844C>A)
c.5066C>A (p.Thr1689Asn)
c.2575C>A
c.3929C>A (p.Thr1310Asn)
c.3356C>A (p.Thr1119Asn)
c.3302C>A (p.Thr1101Asn)
c.*70C>A (n.*70C>A)
c.3278C>A (p.Thr1093Asn)
c.842C>A
c.2903C>A (p.Thr968Asn)
n.1818C>A
n.920C>A
c.5036C>A (p.Thr1679Asn)
c.5078C>A (p.Thr1693Asn)
c.5057C>A (p.Thr1686Asn)
c.5051C>A (p.Thr1684Asn)
c.5030C>A (p.Thr1677Asn)
c.3941C>A (p.Thr1314Asn)
c.5039C>A (p.Thr1680Asn)
n.921C>A
11g.70473354T>ACA381676477SHANK2c.3298A>T (p.Thr1100Ser)
c.843A>T (n.843A>T)
c.5065A>T (p.Thr1689Ser)
c.2574A>T
c.3928A>T (p.Thr1310Ser)
c.3355A>T (p.Thr1119Ser)
c.3301A>T (p.Thr1101Ser)
c.*69A>T (n.*69A>T)
c.3277A>T (p.Thr1093Ser)
c.841A>T
c.2902A>T (p.Thr968Ser)
n.1817A>T
n.919A>T
c.5035A>T (p.Thr1679Ser)
c.5077A>T (p.Thr1693Ser)
c.5056A>T (p.Thr1686Ser)
c.5050A>T (p.Thr1684Ser)
c.5029A>T (p.Thr1677Ser)
c.3940A>T (p.Thr1314Ser)
c.5038A>T (p.Thr1680Ser)
n.920A>T
11g.70473354T>CCA381676478SHANK2c.3298A>G (p.Thr1100Ala)
c.843A>G (n.843A>G)
c.5065A>G (p.Thr1689Ala)
c.2574A>G
c.3928A>G (p.Thr1310Ala)
c.3355A>G (p.Thr1119Ala)
c.3301A>G (p.Thr1101Ala)
c.*69A>G (n.*69A>G)
c.3277A>G (p.Thr1093Ala)
c.841A>G
c.2902A>G (p.Thr968Ala)
n.1817A>G
n.919A>G
c.5035A>G (p.Thr1679Ala)
c.5077A>G (p.Thr1693Ala)
c.5056A>G (p.Thr1686Ala)
c.5050A>G (p.Thr1684Ala)
c.5029A>G (p.Thr1677Ala)
c.3940A>G (p.Thr1314Ala)
c.5038A>G (p.Thr1680Ala)
n.920A>G
11g.70473354T>GCA381676479SHANK2c.3298A>C (p.Thr1100Pro)
c.843A>C (n.843A>C)
c.5065A>C (p.Thr1689Pro)
c.2574A>C
c.3928A>C (p.Thr1310Pro)
c.3355A>C (p.Thr1119Pro)
c.3301A>C (p.Thr1101Pro)
c.*69A>C (n.*69A>C)
c.3277A>C (p.Thr1093Pro)
c.841A>C
c.2902A>C (p.Thr968Pro)
n.1817A>C
n.919A>C
c.5035A>C (p.Thr1679Pro)
c.5077A>C (p.Thr1693Pro)
c.5056A>C (p.Thr1686Pro)
c.5050A>C (p.Thr1684Pro)
c.5029A>C (p.Thr1677Pro)
c.3940A>C (p.Thr1314Pro)
c.5038A>C (p.Thr1680Pro)
n.920A>C
11g.70473355G>ACA475470771SHANK2c.3297C>T (p.Ile1099=)
c.842C>T (n.842C>T)
c.5064C>T (p.Ile1688=)
c.2573C>T
c.3927C>T (p.Ile1309=)
c.3354C>T (p.Ile1118=)
c.3300C>T (p.Ile1100=)
c.*68C>T (n.*68C>T)
c.3276C>T (p.Ile1092=)
c.840C>T
c.2901C>T (p.Ile967=)
n.1816C>T
n.918C>T
c.5034C>T (p.Ile1678=)
c.5076C>T (p.Ile1692=)
c.5055C>T (p.Ile1685=)
c.5049C>T (p.Ile1683=)
c.5028C>T (p.Ile1676=)
c.3939C>T (p.Ile1313=)
c.5037C>T (p.Ile1679=)
n.919C>T
 dbSNP
11g.70473355G>CCA381676481SHANK2c.3297C>G (p.Ile1099Met)
c.842C>G (n.842C>G)
c.5064C>G (p.Ile1688Met)
c.2573C>G
c.3927C>G (p.Ile1309Met)
c.3354C>G (p.Ile1118Met)
c.3300C>G (p.Ile1100Met)
c.*68C>G (n.*68C>G)
c.3276C>G (p.Ile1092Met)
c.840C>G
c.2901C>G (p.Ile967Met)
n.1816C>G
n.918C>G
c.5034C>G (p.Ile1678Met)
c.5076C>G (p.Ile1692Met)
c.5055C>G (p.Ile1685Met)
c.5049C>G (p.Ile1683Met)
c.5028C>G (p.Ile1676Met)
c.3939C>G (p.Ile1313Met)
c.5037C>G (p.Ile1679Met)
n.919C>G
11g.70473355G=CA1981068019SHANK2c.3297C= (p.Ile1099=)
c.842C= (n.842C=)
c.5064C= (p.Ile1688=)
c.2573C=
c.3927C= (p.Ile1309=)
c.3354C= (p.Ile1118=)
c.3300C= (p.Ile1100=)
c.*68C= (n.*68C=)
c.3276C= (p.Ile1092=)
c.840C=
c.2901C= (p.Ile967=)
n.1816C=
n.918C=
c.5034C= (p.Ile1678=)
c.5076C= (p.Ile1692=)
c.5055C= (p.Ile1685=)
c.5049C= (p.Ile1683=)
c.5028C= (p.Ile1676=)
c.3939C= (p.Ile1313=)
c.5037C= (p.Ile1679=)
n.919C=
11g.70473355G>TCA475470772SHANK2c.3297C>A (p.Ile1099=)
c.842C>A (n.842C>A)
c.5064C>A (p.Ile1688=)
c.2573C>A
c.3927C>A (p.Ile1309=)
c.3354C>A (p.Ile1118=)
c.3300C>A (p.Ile1100=)
c.*68C>A (n.*68C>A)
c.3276C>A (p.Ile1092=)
c.840C>A
c.2901C>A (p.Ile967=)
n.1816C>A
n.918C>A
c.5034C>A (p.Ile1678=)
c.5076C>A (p.Ile1692=)
c.5055C>A (p.Ile1685=)
c.5049C>A (p.Ile1683=)
c.5028C>A (p.Ile1676=)
c.3939C>A (p.Ile1313=)
c.5037C>A (p.Ile1679=)
n.919C>A
 gnomAD v4
11g.70473356A=CA1981068020SHANK2c.3296T= (p.Ile1099=)
c.841T= (n.841T=)
c.5063T= (p.Ile1688=)
c.2572T=
c.3926T= (p.Ile1309=)
c.3353T= (p.Ile1118=)
c.3299T= (p.Ile1100=)
c.*67T= (n.*67T=)
c.3275T= (p.Ile1092=)
c.839T=
c.2900T= (p.Ile967=)
n.1815T=
n.917T=
c.5033T= (p.Ile1678=)
c.5075T= (p.Ile1692=)
c.5054T= (p.Ile1685=)
c.5048T= (p.Ile1683=)
c.5027T= (p.Ile1676=)
c.3938T= (p.Ile1313=)
c.5036T= (p.Ile1679=)
n.918T=
11g.70473356A>CCA381676486SHANK2c.3296T>G (p.Ile1099Ser)
c.841T>G (n.841T>G)
c.5063T>G (p.Ile1688Ser)
c.2572T>G
c.3926T>G (p.Ile1309Ser)
c.3353T>G (p.Ile1118Ser)
c.3299T>G (p.Ile1100Ser)
c.*67T>G (n.*67T>G)
c.3275T>G (p.Ile1092Ser)
c.839T>G
c.2900T>G (p.Ile967Ser)
n.1815T>G
n.917T>G
c.5033T>G (p.Ile1678Ser)
c.5075T>G (p.Ile1692Ser)
c.5054T>G (p.Ile1685Ser)
c.5048T>G (p.Ile1683Ser)
c.5027T>G (p.Ile1676Ser)
c.3938T>G (p.Ile1313Ser)
c.5036T>G (p.Ile1679Ser)
n.918T>G
11g.70473356A>GCA381676484SHANK2c.3296T>C (p.Ile1099Thr)
c.841T>C (n.841T>C)
c.5063T>C (p.Ile1688Thr)
c.2572T>C
c.3926T>C (p.Ile1309Thr)
c.3353T>C (p.Ile1118Thr)
c.3299T>C (p.Ile1100Thr)
c.*67T>C (n.*67T>C)
c.3275T>C (p.Ile1092Thr)
c.839T>C
c.2900T>C (p.Ile967Thr)
n.1815T>C
n.917T>C
c.5033T>C (p.Ile1678Thr)
c.5075T>C (p.Ile1692Thr)
c.5054T>C (p.Ile1685Thr)
c.5048T>C (p.Ile1683Thr)
c.5027T>C (p.Ile1676Thr)
c.3938T>C (p.Ile1313Thr)
c.5036T>C (p.Ile1679Thr)
n.918T>C
11g.70473356A>TCA381676483SHANK2c.3296T>A (p.Ile1099Asn)
c.841T>A (n.841T>A)
c.5063T>A (p.Ile1688Asn)
c.2572T>A
c.3926T>A (p.Ile1309Asn)
c.3353T>A (p.Ile1118Asn)
c.3299T>A (p.Ile1100Asn)
c.*67T>A (n.*67T>A)
c.3275T>A (p.Ile1092Asn)
c.839T>A
c.2900T>A (p.Ile967Asn)
n.1815T>A
n.917T>A
c.5033T>A (p.Ile1678Asn)
c.5075T>A (p.Ile1692Asn)
c.5054T>A (p.Ile1685Asn)
c.5048T>A (p.Ile1683Asn)
c.5027T>A (p.Ile1676Asn)
c.3938T>A (p.Ile1313Asn)
c.5036T>A (p.Ile1679Asn)
n.918T>A
 dbSNP
11g.70473357T>ACA381676488SHANK2c.3295A>T (p.Ile1099Phe)
c.840A>T (n.840A>T)
c.5062A>T (p.Ile1688Phe)
c.2571A>T
c.3925A>T (p.Ile1309Phe)
c.3352A>T (p.Ile1118Phe)
c.3298A>T (p.Ile1100Phe)
c.*66A>T (n.*66A>T)
c.3274A>T (p.Ile1092Phe)
c.838A>T
c.2899A>T (p.Ile967Phe)
n.1814A>T
n.916A>T
c.5032A>T (p.Ile1678Phe)
c.5074A>T (p.Ile1692Phe)
c.5053A>T (p.Ile1685Phe)
c.5047A>T (p.Ile1683Phe)
c.5026A>T (p.Ile1676Phe)
c.3937A>T (p.Ile1313Phe)
c.5035A>T (p.Ile1679Phe)
n.917A>T
11g.70473357T>CCA381676490SHANK2c.3295A>G (p.Ile1099Val)
c.840A>G (n.840A>G)
c.5062A>G (p.Ile1688Val)
c.2571A>G
c.3925A>G (p.Ile1309Val)
c.3352A>G (p.Ile1118Val)
c.3298A>G (p.Ile1100Val)
c.*66A>G (n.*66A>G)
c.3274A>G (p.Ile1092Val)
c.838A>G
c.2899A>G (p.Ile967Val)
n.1814A>G
n.916A>G
c.5032A>G (p.Ile1678Val)
c.5074A>G (p.Ile1692Val)
c.5053A>G (p.Ile1685Val)
c.5047A>G (p.Ile1683Val)
c.5026A>G (p.Ile1676Val)
c.3937A>G (p.Ile1313Val)
c.5035A>G (p.Ile1679Val)
n.917A>G
11g.70473357T>GCA381676492SHANK2c.3295A>C (p.Ile1099Leu)
c.840A>C (n.840A>C)
c.5062A>C (p.Ile1688Leu)
c.2571A>C
c.3925A>C (p.Ile1309Leu)
c.3352A>C (p.Ile1118Leu)
c.3298A>C (p.Ile1100Leu)
c.*66A>C (n.*66A>C)
c.3274A>C (p.Ile1092Leu)
c.838A>C
c.2899A>C (p.Ile967Leu)
n.1814A>C
n.916A>C
c.5032A>C (p.Ile1678Leu)
c.5074A>C (p.Ile1692Leu)
c.5053A>C (p.Ile1685Leu)
c.5047A>C (p.Ile1683Leu)
c.5026A>C (p.Ile1676Leu)
c.3937A>C (p.Ile1313Leu)
c.5035A>C (p.Ile1679Leu)
n.917A>C
11g.70473358G>ACA475470775SHANK2c.3294C>T (p.Pro1098=)
c.839C>T (n.839C>T)
c.5061C>T (p.Pro1687=)
c.2570C>T
c.3924C>T (p.Pro1308=)
c.3351C>T (p.Pro1117=)
c.3297C>T (p.Pro1099=)
c.*65C>T (n.*65C>T)
c.3273C>T (p.Pro1091=)
c.837C>T
c.2898C>T (p.Pro966=)
n.1813C>T
n.915C>T
c.5031C>T (p.Pro1677=)
c.5073C>T (p.Pro1691=)
c.5052C>T (p.Pro1684=)
c.5046C>T (p.Pro1682=)
c.5025C>T (p.Pro1675=)
c.3936C>T (p.Pro1312=)
c.5034C>T (p.Pro1678=)
n.916C>T
 gnomAD v4
11g.70473358G>CCA475470774SHANK2c.3294C>G (p.Pro1098=)
c.839C>G (n.839C>G)
c.5061C>G (p.Pro1687=)
c.2570C>G
c.3924C>G (p.Pro1308=)
c.3351C>G (p.Pro1117=)
c.3297C>G (p.Pro1099=)
c.*65C>G (n.*65C>G)
c.3273C>G (p.Pro1091=)
c.837C>G
c.2898C>G (p.Pro966=)
n.1813C>G
n.915C>G
c.5031C>G (p.Pro1677=)
c.5073C>G (p.Pro1691=)
c.5052C>G (p.Pro1684=)
c.5046C>G (p.Pro1682=)
c.5025C>G (p.Pro1675=)
c.3936C>G (p.Pro1312=)
c.5034C>G (p.Pro1678=)
n.916C>G
11g.70473358G>TCA475470773SHANK2c.3294C>A (p.Pro1098=)
c.839C>A (n.839C>A)
c.5061C>A (p.Pro1687=)
c.2570C>A
c.3924C>A (p.Pro1308=)
c.3351C>A (p.Pro1117=)
c.3297C>A (p.Pro1099=)
c.*65C>A (n.*65C>A)
c.3273C>A (p.Pro1091=)
c.837C>A
c.2898C>A (p.Pro966=)
n.1813C>A
n.915C>A
c.5031C>A (p.Pro1677=)
c.5073C>A (p.Pro1691=)
c.5052C>A (p.Pro1684=)
c.5046C>A (p.Pro1682=)
c.5025C>A (p.Pro1675=)
c.3936C>A (p.Pro1312=)
c.5034C>A (p.Pro1678=)
n.916C>A
 gnomAD v4
11g.70473359G>ACA381676494SHANK2c.3293C>T (p.Pro1098Leu)
c.838C>T (n.838C>T)
c.5060C>T (p.Pro1687Leu)
c.2569C>T
c.3923C>T (p.Pro1308Leu)
c.3350C>T (p.Pro1117Leu)
c.3296C>T (p.Pro1099Leu)
c.*64C>T (n.*64C>T)
c.3272C>T (p.Pro1091Leu)
c.836C>T
c.2897C>T (p.Pro966Leu)
n.1812C>T
n.914C>T
c.5030C>T (p.Pro1677Leu)
c.5072C>T (p.Pro1691Leu)
c.5051C>T (p.Pro1684Leu)
c.5045C>T (p.Pro1682Leu)
c.5024C>T (p.Pro1675Leu)
c.3935C>T (p.Pro1312Leu)
c.5033C>T (p.Pro1678Leu)
n.915C>T
11g.70473359G>CCA381676496SHANK2c.3293C>G (p.Pro1098Arg)
c.838C>G (n.838C>G)
c.5060C>G (p.Pro1687Arg)
c.2569C>G
c.3923C>G (p.Pro1308Arg)
c.3350C>G (p.Pro1117Arg)
c.3296C>G (p.Pro1099Arg)
c.*64C>G (n.*64C>G)
c.3272C>G (p.Pro1091Arg)
c.836C>G
c.2897C>G (p.Pro966Arg)
n.1812C>G
n.914C>G
c.5030C>G (p.Pro1677Arg)
c.5072C>G (p.Pro1691Arg)
c.5051C>G (p.Pro1684Arg)
c.5045C>G (p.Pro1682Arg)
c.5024C>G (p.Pro1675Arg)
c.3935C>G (p.Pro1312Arg)
c.5033C>G (p.Pro1678Arg)
n.915C>G
11g.70473359G>TCA381676498SHANK2c.3293C>A (p.Pro1098His)
c.838C>A (n.838C>A)
c.5060C>A (p.Pro1687His)
c.2569C>A
c.3923C>A (p.Pro1308His)
c.3350C>A (p.Pro1117His)
c.3296C>A (p.Pro1099His)
c.*64C>A (n.*64C>A)
c.3272C>A (p.Pro1091His)
c.836C>A
c.2897C>A (p.Pro966His)
n.1812C>A
n.914C>A
c.5030C>A (p.Pro1677His)
c.5072C>A (p.Pro1691His)
c.5051C>A (p.Pro1684His)
c.5045C>A (p.Pro1682His)
c.5024C>A (p.Pro1675His)
c.3935C>A (p.Pro1312His)
c.5033C>A (p.Pro1678His)
n.915C>A
11g.70473360G>ACA381676500SHANK2c.3292C>T (p.Pro1098Ser)
c.837C>T (n.837C>T)
c.5059C>T (p.Pro1687Ser)
c.2568C>T
c.3922C>T (p.Pro1308Ser)
c.3349C>T (p.Pro1117Ser)
c.3295C>T (p.Pro1099Ser)
c.*63C>T (n.*63C>T)
c.3271C>T (p.Pro1091Ser)
c.835C>T
c.2896C>T (p.Pro966Ser)
n.1811C>T
n.913C>T
c.5029C>T (p.Pro1677Ser)
c.5071C>T (p.Pro1691Ser)
c.5050C>T (p.Pro1684Ser)
c.5044C>T (p.Pro1682Ser)
c.5023C>T (p.Pro1675Ser)
c.3934C>T (p.Pro1312Ser)
c.5032C>T (p.Pro1678Ser)
n.914C>T
11g.70473360G>CCA381676505SHANK2c.3292C>G (p.Pro1098Ala)
c.837C>G (n.837C>G)
c.5059C>G (p.Pro1687Ala)
c.2568C>G
c.3922C>G (p.Pro1308Ala)
c.3349C>G (p.Pro1117Ala)
c.3295C>G (p.Pro1099Ala)
c.*63C>G (n.*63C>G)
c.3271C>G (p.Pro1091Ala)
c.835C>G
c.2896C>G (p.Pro966Ala)
n.1811C>G
n.913C>G
c.5029C>G (p.Pro1677Ala)
c.5071C>G (p.Pro1691Ala)
c.5050C>G (p.Pro1684Ala)
c.5044C>G (p.Pro1682Ala)
c.5023C>G (p.Pro1675Ala)
c.3934C>G (p.Pro1312Ala)
c.5032C>G (p.Pro1678Ala)
n.914C>G
 COSMIC COSMIC
11g.70473360G=CA1981068021SHANK2c.3292C= (p.Pro1098=)
c.837C= (n.837C=)
c.5059C= (p.Pro1687=)
c.2568C=
c.3922C= (p.Pro1308=)
c.3349C= (p.Pro1117=)
c.3295C= (p.Pro1099=)
c.*63C= (n.*63C=)
c.3271C= (p.Pro1091=)
c.835C=
c.2896C= (p.Pro966=)
n.1811C=
n.913C=
c.5029C= (p.Pro1677=)
c.5071C= (p.Pro1691=)
c.5050C= (p.Pro1684=)
c.5044C= (p.Pro1682=)
c.5023C= (p.Pro1675=)
c.3934C= (p.Pro1312=)
c.5032C= (p.Pro1678=)
n.914C=
11g.70473360G>TCA381676503SHANK2c.3292C>A (p.Pro1098Thr)
c.837C>A (n.837C>A)
c.5059C>A (p.Pro1687Thr)
c.2568C>A
c.3922C>A (p.Pro1308Thr)
c.3349C>A (p.Pro1117Thr)
c.3295C>A (p.Pro1099Thr)
c.*63C>A (n.*63C>A)
c.3271C>A (p.Pro1091Thr)
c.835C>A
c.2896C>A (p.Pro966Thr)
n.1811C>A
n.913C>A
c.5029C>A (p.Pro1677Thr)
c.5071C>A (p.Pro1691Thr)
c.5050C>A (p.Pro1684Thr)
c.5044C>A (p.Pro1682Thr)
c.5023C>A (p.Pro1675Thr)
c.3934C>A (p.Pro1312Thr)
c.5032C>A (p.Pro1678Thr)
n.914C>A
 dbSNP gnomAD v4
11g.70473361C>ACA381676507SHANK2c.3291G>T (p.Gln1097His)
c.836G>T (n.836G>T)
c.5058G>T (p.Gln1686His)
c.2567G>T
c.3921G>T (p.Gln1307His)
c.3348G>T (p.Gln1116His)
c.3294G>T (p.Gln1098His)
c.*62G>T (n.*62G>T)
c.3270G>T (p.Gln1090His)
c.834G>T
c.2895G>T (p.Gln965His)
n.1810G>T
n.912G>T
c.5028G>T (p.Gln1676His)
c.5070G>T (p.Gln1690His)
c.5049G>T (p.Gln1683His)
c.5043G>T (p.Gln1681His)
c.5022G>T (p.Gln1674His)
c.3933G>T (p.Gln1311His)
c.5031G>T (p.Gln1677His)
n.913G>T
11g.70473361C=CA1981068022SHANK2c.3291G= (p.Gln1097=)
c.836G= (n.836G=)
c.5058G= (p.Gln1686=)
c.2567G=
c.3921G= (p.Gln1307=)
c.3348G= (p.Gln1116=)
c.3294G= (p.Gln1098=)
c.*62G= (n.*62G=)
c.3270G= (p.Gln1090=)
c.834G=
c.2895G= (p.Gln965=)
n.1810G=
n.912G=
c.5028G= (p.Gln1676=)
c.5070G= (p.Gln1690=)
c.5049G= (p.Gln1683=)
c.5043G= (p.Gln1681=)
c.5022G= (p.Gln1674=)
c.3933G= (p.Gln1311=)
c.5031G= (p.Gln1677=)
n.913G=
11g.70473361C>GCA6160778SHANK2c.3291G>C (p.Gln1097His)
c.836G>C (n.836G>C)
c.5058G>C (p.Gln1686His)
c.2567G>C
c.3921G>C (p.Gln1307His)
c.3348G>C (p.Gln1116His)
c.3294G>C (p.Gln1098His)
c.*62G>C (n.*62G>C)
c.3270G>C (p.Gln1090His)
c.834G>C
c.2895G>C (p.Gln965His)
n.1810G>C
n.912G>C
c.5028G>C (p.Gln1676His)
c.5070G>C (p.Gln1690His)
c.5049G>C (p.Gln1683His)
c.5043G>C (p.Gln1681His)
c.5022G>C (p.Gln1674His)
c.3933G>C (p.Gln1311His)
c.5031G>C (p.Gln1677His)
n.913G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473361C>TCA475470776SHANK2c.3291G>A (p.Gln1097=)
c.836G>A (n.836G>A)
c.5058G>A (p.Gln1686=)
c.2567G>A
c.3921G>A (p.Gln1307=)
c.3348G>A (p.Gln1116=)
c.3294G>A (p.Gln1098=)
c.*62G>A (n.*62G>A)
c.3270G>A (p.Gln1090=)
c.834G>A
c.2895G>A (p.Gln965=)
n.1810G>A
n.912G>A
c.5028G>A (p.Gln1676=)
c.5070G>A (p.Gln1690=)
c.5049G>A (p.Gln1683=)
c.5043G>A (p.Gln1681=)
c.5022G>A (p.Gln1674=)
c.3933G>A (p.Gln1311=)
c.5031G>A (p.Gln1677=)
n.913G>A
 gnomAD v4
11g.70473362T>ACA381676510SHANK2c.3290A>T (p.Gln1097Leu)
c.835A>T (n.835A>T)
c.5057A>T (p.Gln1686Leu)
c.2566A>T
c.3920A>T (p.Gln1307Leu)
c.3347A>T (p.Gln1116Leu)
c.3293A>T (p.Gln1098Leu)
c.*61A>T (n.*61A>T)
c.3269A>T (p.Gln1090Leu)
c.833A>T
c.2894A>T (p.Gln965Leu)
n.1809A>T
n.911A>T
c.5027A>T (p.Gln1676Leu)
c.5069A>T (p.Gln1690Leu)
c.5048A>T (p.Gln1683Leu)
c.5042A>T (p.Gln1681Leu)
c.5021A>T (p.Gln1674Leu)
c.3932A>T (p.Gln1311Leu)
c.5030A>T (p.Gln1677Leu)
n.912A>T
11g.70473362T>CCA381676512SHANK2c.3290A>G (p.Gln1097Arg)
c.835A>G (n.835A>G)
c.5057A>G (p.Gln1686Arg)
c.2566A>G
c.3920A>G (p.Gln1307Arg)
c.3347A>G (p.Gln1116Arg)
c.3293A>G (p.Gln1098Arg)
c.*61A>G (n.*61A>G)
c.3269A>G (p.Gln1090Arg)
c.833A>G
c.2894A>G (p.Gln965Arg)
n.1809A>G
n.911A>G
c.5027A>G (p.Gln1676Arg)
c.5069A>G (p.Gln1690Arg)
c.5048A>G (p.Gln1683Arg)
c.5042A>G (p.Gln1681Arg)
c.5021A>G (p.Gln1674Arg)
c.3932A>G (p.Gln1311Arg)
c.5030A>G (p.Gln1677Arg)
n.912A>G
11g.70473362T>GCA381676514SHANK2c.3290A>C (p.Gln1097Pro)
c.835A>C (n.835A>C)
c.5057A>C (p.Gln1686Pro)
c.2566A>C
c.3920A>C (p.Gln1307Pro)
c.3347A>C (p.Gln1116Pro)
c.3293A>C (p.Gln1098Pro)
c.*61A>C (n.*61A>C)
c.3269A>C (p.Gln1090Pro)
c.833A>C
c.2894A>C (p.Gln965Pro)
n.1809A>C
n.911A>C
c.5027A>C (p.Gln1676Pro)
c.5069A>C (p.Gln1690Pro)
c.5048A>C (p.Gln1683Pro)
c.5042A>C (p.Gln1681Pro)
c.5021A>C (p.Gln1674Pro)
c.3932A>C (p.Gln1311Pro)
c.5030A>C (p.Gln1677Pro)
n.912A>C
11g.70473363G>ACA381676516SHANK2c.3289C>T (p.Gln1097Ter)
c.834C>T (n.834C>T)
c.5056C>T (p.Gln1686Ter)
c.2565C>T
c.3919C>T (p.Gln1307Ter)
c.3346C>T (p.Gln1116Ter)
c.3292C>T (p.Gln1098Ter)
c.*60C>T (n.*60C>T)
c.3268C>T (p.Gln1090Ter)
c.832C>T
c.2893C>T (p.Gln965Ter)
n.1808C>T
n.910C>T
c.5026C>T (p.Gln1676Ter)
c.5068C>T (p.Gln1690Ter)
c.5047C>T (p.Gln1683Ter)
c.5041C>T (p.Gln1681Ter)
c.5020C>T (p.Gln1674Ter)
c.3931C>T (p.Gln1311Ter)
c.5029C>T (p.Gln1677Ter)
n.911C>T
11g.70473363G>CCA381676517SHANK2c.3289C>G (p.Gln1097Glu)
c.834C>G (n.834C>G)
c.5056C>G (p.Gln1686Glu)
c.2565C>G
c.3919C>G (p.Gln1307Glu)
c.3346C>G (p.Gln1116Glu)
c.3292C>G (p.Gln1098Glu)
c.*60C>G (n.*60C>G)
c.3268C>G (p.Gln1090Glu)
c.832C>G
c.2893C>G (p.Gln965Glu)
n.1808C>G
n.910C>G
c.5026C>G (p.Gln1676Glu)
c.5068C>G (p.Gln1690Glu)
c.5047C>G (p.Gln1683Glu)
c.5041C>G (p.Gln1681Glu)
c.5020C>G (p.Gln1674Glu)
c.3931C>G (p.Gln1311Glu)
c.5029C>G (p.Gln1677Glu)
n.911C>G
11g.70473363G>TCA381676519SHANK2c.3289C>A (p.Gln1097Lys)
c.834C>A (n.834C>A)
c.5056C>A (p.Gln1686Lys)
c.2565C>A
c.3919C>A (p.Gln1307Lys)
c.3346C>A (p.Gln1116Lys)
c.3292C>A (p.Gln1098Lys)
c.*60C>A (n.*60C>A)
c.3268C>A (p.Gln1090Lys)
c.832C>A
c.2893C>A (p.Gln965Lys)
n.1808C>A
n.910C>A
c.5026C>A (p.Gln1676Lys)
c.5068C>A (p.Gln1690Lys)
c.5047C>A (p.Gln1683Lys)
c.5041C>A (p.Gln1681Lys)
c.5020C>A (p.Gln1674Lys)
c.3931C>A (p.Gln1311Lys)
c.5029C>A (p.Gln1677Lys)
n.911C>A
11g.70473364G>ACA6160779SHANK2c.3288C>T (p.Ser1096=)
c.833C>T (n.833C>T)
c.5055C>T (p.Ser1685=)
c.2564C>T
c.3918C>T (p.Ser1306=)
c.3345C>T (p.Ser1115=)
c.3291C>T (p.Ser1097=)
c.*59C>T (n.*59C>T)
c.3267C>T (p.Ser1089=)
c.831C>T
c.2892C>T (p.Ser964=)
n.1807C>T
n.909C>T
c.5025C>T (p.Ser1675=)
c.5067C>T (p.Ser1689=)
c.5046C>T (p.Ser1682=)
c.5040C>T (p.Ser1680=)
c.5019C>T (p.Ser1673=)
c.3930C>T (p.Ser1310=)
c.5028C>T (p.Ser1676=)
n.910C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473364G>CCA475470777SHANK2c.3288C>G (p.Ser1096=)
c.833C>G (n.833C>G)
c.5055C>G (p.Ser1685=)
c.2564C>G
c.3918C>G (p.Ser1306=)
c.3345C>G (p.Ser1115=)
c.3291C>G (p.Ser1097=)
c.*59C>G (n.*59C>G)
c.3267C>G (p.Ser1089=)
c.831C>G
c.2892C>G (p.Ser964=)
n.1807C>G
n.909C>G
c.5025C>G (p.Ser1675=)
c.5067C>G (p.Ser1689=)
c.5046C>G (p.Ser1682=)
c.5040C>G (p.Ser1680=)
c.5019C>G (p.Ser1673=)
c.3930C>G (p.Ser1310=)
c.5028C>G (p.Ser1676=)
n.910C>G
11g.70473364G=CA1981068023SHANK2c.3288C= (p.Ser1096=)
c.833C= (n.833C=)
c.5055C= (p.Ser1685=)
c.2564C=
c.3918C= (p.Ser1306=)
c.3345C= (p.Ser1115=)
c.3291C= (p.Ser1097=)
c.*59C= (n.*59C=)
c.3267C= (p.Ser1089=)
c.831C=
c.2892C= (p.Ser964=)
n.1807C=
n.909C=
c.5025C= (p.Ser1675=)
c.5067C= (p.Ser1689=)
c.5046C= (p.Ser1682=)
c.5040C= (p.Ser1680=)
c.5019C= (p.Ser1673=)
c.3930C= (p.Ser1310=)
c.5028C= (p.Ser1676=)
n.910C=
11g.70473364G>TCA475470778SHANK2c.3288C>A (p.Ser1096=)
c.833C>A (n.833C>A)
c.5055C>A (p.Ser1685=)
c.2564C>A
c.3918C>A (p.Ser1306=)
c.3345C>A (p.Ser1115=)
c.3291C>A (p.Ser1097=)
c.*59C>A (n.*59C>A)
c.3267C>A (p.Ser1089=)
c.831C>A
c.2892C>A (p.Ser964=)
n.1807C>A
n.909C>A
c.5025C>A (p.Ser1675=)
c.5067C>A (p.Ser1689=)
c.5046C>A (p.Ser1682=)
c.5040C>A (p.Ser1680=)
c.5019C>A (p.Ser1673=)
c.3930C>A (p.Ser1310=)
c.5028C>A (p.Ser1676=)
n.910C>A
11g.70473365G>ACA381676522SHANK2c.3287C>T (p.Ser1096Phe)
c.832C>T (n.832C>T)
c.5054C>T (p.Ser1685Phe)
c.2563C>T
c.3917C>T (p.Ser1306Phe)
c.3344C>T (p.Ser1115Phe)
c.3290C>T (p.Ser1097Phe)
c.*58C>T (n.*58C>T)
c.3266C>T (p.Ser1089Phe)
c.830C>T
c.2891C>T (p.Ser964Phe)
n.1806C>T
n.908C>T
c.5024C>T (p.Ser1675Phe)
c.5066C>T (p.Ser1689Phe)
c.5045C>T (p.Ser1682Phe)
c.5039C>T (p.Ser1680Phe)
c.5018C>T (p.Ser1673Phe)
c.3929C>T (p.Ser1310Phe)
c.5027C>T (p.Ser1676Phe)
n.909C>T
11g.70473365G>CCA6160780SHANK2c.3287C>G (p.Ser1096Cys)
c.832C>G (n.832C>G)
c.5054C>G (p.Ser1685Cys)
c.2563C>G
c.3917C>G (p.Ser1306Cys)
c.3344C>G (p.Ser1115Cys)
c.3290C>G (p.Ser1097Cys)
c.*58C>G (n.*58C>G)
c.3266C>G (p.Ser1089Cys)
c.830C>G
c.2891C>G (p.Ser964Cys)
n.1806C>G
n.908C>G
c.5024C>G (p.Ser1675Cys)
c.5066C>G (p.Ser1689Cys)
c.5045C>G (p.Ser1682Cys)
c.5039C>G (p.Ser1680Cys)
c.5018C>G (p.Ser1673Cys)
c.3929C>G (p.Ser1310Cys)
c.5027C>G (p.Ser1676Cys)
n.909C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473365G=CA1981068024SHANK2c.3287C= (p.Ser1096=)
c.832C= (n.832C=)
c.5054C= (p.Ser1685=)
c.2563C=
c.3917C= (p.Ser1306=)
c.3344C= (p.Ser1115=)
c.3290C= (p.Ser1097=)
c.*58C= (n.*58C=)
c.3266C= (p.Ser1089=)
c.830C=
c.2891C= (p.Ser964=)
n.1806C=
n.908C=
c.5024C= (p.Ser1675=)
c.5066C= (p.Ser1689=)
c.5045C= (p.Ser1682=)
c.5039C= (p.Ser1680=)
c.5018C= (p.Ser1673=)
c.3929C= (p.Ser1310=)
c.5027C= (p.Ser1676=)
n.909C=
11g.70473365G>TCA381676525SHANK2c.3287C>A (p.Ser1096Tyr)
c.832C>A (n.832C>A)
c.5054C>A (p.Ser1685Tyr)
c.2563C>A
c.3917C>A (p.Ser1306Tyr)
c.3344C>A (p.Ser1115Tyr)
c.3290C>A (p.Ser1097Tyr)
c.*58C>A (n.*58C>A)
c.3266C>A (p.Ser1089Tyr)
c.830C>A
c.2891C>A (p.Ser964Tyr)
n.1806C>A
n.908C>A
c.5024C>A (p.Ser1675Tyr)
c.5066C>A (p.Ser1689Tyr)
c.5045C>A (p.Ser1682Tyr)
c.5039C>A (p.Ser1680Tyr)
c.5018C>A (p.Ser1673Tyr)
c.3929C>A (p.Ser1310Tyr)
c.5027C>A (p.Ser1676Tyr)
n.909C>A
11g.70473366A=CA1981068025SHANK2c.3286T= (p.Ser1096=)
c.831T= (n.831T=)
c.5053T= (p.Ser1685=)
c.2562T=
c.3916T= (p.Ser1306=)
c.3343T= (p.Ser1115=)
c.3289T= (p.Ser1097=)
c.*57T= (n.*57T=)
c.3265T= (p.Ser1089=)
c.829T=
c.2890T= (p.Ser964=)
n.1805T=
n.907T=
c.5023T= (p.Ser1675=)
c.5065T= (p.Ser1689=)
c.5044T= (p.Ser1682=)
c.5038T= (p.Ser1680=)
c.5017T= (p.Ser1673=)
c.3928T= (p.Ser1310=)
c.5026T= (p.Ser1676=)
n.908T=
11g.70473366A>CCA381676529SHANK2c.3286T>G (p.Ser1096Ala)
c.831T>G (n.831T>G)
c.5053T>G (p.Ser1685Ala)
c.2562T>G
c.3916T>G (p.Ser1306Ala)
c.3343T>G (p.Ser1115Ala)
c.3289T>G (p.Ser1097Ala)
c.*57T>G (n.*57T>G)
c.3265T>G (p.Ser1089Ala)
c.829T>G
c.2890T>G (p.Ser964Ala)
n.1805T>G
n.907T>G
c.5023T>G (p.Ser1675Ala)
c.5065T>G (p.Ser1689Ala)
c.5044T>G (p.Ser1682Ala)
c.5038T>G (p.Ser1680Ala)
c.5017T>G (p.Ser1673Ala)
c.3928T>G (p.Ser1310Ala)
c.5026T>G (p.Ser1676Ala)
n.908T>G
11g.70473366A>GCA381676531SHANK2c.3286T>C (p.Ser1096Pro)
c.831T>C (n.831T>C)
c.5053T>C (p.Ser1685Pro)
c.2562T>C
c.3916T>C (p.Ser1306Pro)
c.3343T>C (p.Ser1115Pro)
c.3289T>C (p.Ser1097Pro)
c.*57T>C (n.*57T>C)
c.3265T>C (p.Ser1089Pro)
c.829T>C
c.2890T>C (p.Ser964Pro)
n.1805T>C
n.907T>C
c.5023T>C (p.Ser1675Pro)
c.5065T>C (p.Ser1689Pro)
c.5044T>C (p.Ser1682Pro)
c.5038T>C (p.Ser1680Pro)
c.5017T>C (p.Ser1673Pro)
c.3928T>C (p.Ser1310Pro)
c.5026T>C (p.Ser1676Pro)
n.908T>C
 dbSNP
11g.70473366A>TCA381676527SHANK2c.3286T>A (p.Ser1096Thr)
c.831T>A (n.831T>A)
c.5053T>A (p.Ser1685Thr)
c.2562T>A
c.3916T>A (p.Ser1306Thr)
c.3343T>A (p.Ser1115Thr)
c.3289T>A (p.Ser1097Thr)
c.*57T>A (n.*57T>A)
c.3265T>A (p.Ser1089Thr)
c.829T>A
c.2890T>A (p.Ser964Thr)
n.1805T>A
n.907T>A
c.5023T>A (p.Ser1675Thr)
c.5065T>A (p.Ser1689Thr)
c.5044T>A (p.Ser1682Thr)
c.5038T>A (p.Ser1680Thr)
c.5017T>A (p.Ser1673Thr)
c.3928T>A (p.Ser1310Thr)
c.5026T>A (p.Ser1676Thr)
n.908T>A

Number of alleles fetched