Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50721011_50721023delinsACCGGCCCCACCG | CA2411007971 | SHANK3 | c.2779_2791delinsACCGGCCCCACCG (p.Thr927=) n.3363_3375delinsACCGGCCCCACCG c.1831_1843delinsACCGGCCCCACCG (p.Thr611=) c.1321_1333delinsACCGGCCCCACCG (p.Thr441=) c.*1777_*1789delinsACCGGCCCCACCG (n.*1777_*1789delinsACCGGCCCCACCG) c.3175_3187delinsACCGGCCCCACCG (p.Thr1059=) c.3157_3169delinsACCGGCCCCACCG (p.Thr1053=) | |
22 | g.50721018_50721029del | CA2411007972 | SHANK3 | c.2786_2797del (p.Pro929_Gly932del) n.3370_3381del c.1838_1849del (p.Pro613_Gly616del) c.1328_1339del (p.Pro443_Gly446del) c.*1784_*1795del (n.*1784_*1795del) c.3182_3193del (p.Pro1061_Gly1064del) c.3164_3175del (p.Pro1055_Gly1058del) | dbSNP |
22 | g.50721019del | CA645369799 | SHANK3 | c.2787del (p.Thr930ProfsTer15) n.3371del c.1839del (p.Thr614ProfsTer15) c.1329del (p.Thr444ProfsTer15) c.*1785del (n.*1785del) c.3183del (p.Thr1062ProfsTer15) c.3165del (p.Thr1056ProfsTer15) | ClinVar dbSNP gnomAD v4 |
22 | g.50721019C>A | CA515260935 | SHANK3 | c.2787C>A (p.Pro929=) n.3371C>A c.1839C>A (p.Pro613=) c.1329C>A (p.Pro443=) c.*1785C>A (n.*1785C>A) c.3183C>A (p.Pro1061=) c.3165C>A (p.Pro1055=) | gnomAD v4 |
22 | g.50721019C= | CA2411007980 | SHANK3 | c.2787C= (p.Pro929=) n.3371C= c.1839C= (p.Pro613=) c.1329C= (p.Pro443=) c.*1785C= (n.*1785C=) c.3183C= (p.Pro1061=) c.3165C= (p.Pro1055=) | |
22 | g.50721019C>G | CA515260934 | SHANK3 | c.2787C>G (p.Pro929=) n.3371C>G c.1839C>G (p.Pro613=) c.1329C>G (p.Pro443=) c.*1785C>G (n.*1785C>G) c.3183C>G (p.Pro1061=) c.3165C>G (p.Pro1055=) | |
22 | g.50721019C>T | CA10325977 | SHANK3 | c.2787C>T (p.Pro929=) n.3371C>T c.1839C>T (p.Pro613=) c.1329C>T (p.Pro443=) c.*1785C>T (n.*1785C>T) c.3183C>T (p.Pro1061=) c.3165C>T (p.Pro1055=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721020A>C | CA515260936 | SHANK3 | c.2788A>C (p.Thr930Pro) n.3372A>C c.1840A>C (p.Thr614Pro) c.1330A>C (p.Thr444Pro) c.*1786A>C (n.*1786A>C) c.3184A>C (p.Thr1062Pro) c.3166A>C (p.Thr1056Pro) | |
22 | g.50721020A>G | CA515260937 | SHANK3 | c.2788A>G (p.Thr930Ala) n.3372A>G c.1840A>G (p.Thr614Ala) c.1330A>G (p.Thr444Ala) c.*1786A>G (n.*1786A>G) c.3184A>G (p.Thr1062Ala) c.3166A>G (p.Thr1056Ala) | gnomAD v4 |
22 | g.50721020A>T | CA515260938 | SHANK3 | c.2788A>T (p.Thr930Ser) n.3372A>T c.1840A>T (p.Thr614Ser) c.1330A>T (p.Thr444Ser) c.*1786A>T (n.*1786A>T) c.3184A>T (p.Thr1062Ser) c.3166A>T (p.Thr1056Ser) | |
22 | g.50721021C>A | CA515260939 | SHANK3 | c.2789C>A (p.Thr930Asn) n.3373C>A c.1841C>A (p.Thr614Asn) c.1331C>A (p.Thr444Asn) c.*1787C>A (n.*1787C>A) c.3185C>A (p.Thr1062Asn) c.3167C>A (p.Thr1056Asn) | gnomAD v4 |
22 | g.50721021C>G | CA515260940 | SHANK3 | c.2789C>G (p.Thr930Ser) n.3373C>G c.1841C>G (p.Thr614Ser) c.1331C>G (p.Thr444Ser) c.*1787C>G (n.*1787C>G) c.3185C>G (p.Thr1062Ser) c.3167C>G (p.Thr1056Ser) | |
22 | g.50721021C>T | CA515260941 | SHANK3 | c.2789C>T (p.Thr930Ile) n.3373C>T c.1841C>T (p.Thr614Ile) c.1331C>T (p.Thr444Ile) c.*1787C>T (n.*1787C>T) c.3185C>T (p.Thr1062Ile) c.3167C>T (p.Thr1056Ile) | gnomAD v4 COSMIC COSMIC |
22 | g.50721022C>A | CA515260942 | SHANK3 | c.2790C>A (p.Thr930=) n.3374C>A c.1842C>A (p.Thr614=) c.1332C>A (p.Thr444=) c.*1788C>A (n.*1788C>A) c.3186C>A (p.Thr1062=) c.3168C>A (p.Thr1056=) | gnomAD v4 |
22 | g.50721022C= | CA2411007981 | SHANK3 | c.2790C= (p.Thr930=) n.3374C= c.1842C= (p.Thr614=) c.1332C= (p.Thr444=) c.*1788C= (n.*1788C=) c.3186C= (p.Thr1062=) c.3168C= (p.Thr1056=) | |
22 | g.50721022C>G | CA515260943 | SHANK3 | c.2790C>G (p.Thr930=) n.3374C>G c.1842C>G (p.Thr614=) c.1332C>G (p.Thr444=) c.*1788C>G (n.*1788C>G) c.3186C>G (p.Thr1062=) c.3168C>G (p.Thr1056=) | |
22 | g.50721022C>T | CA515260944 | SHANK3 | c.2790C>T (p.Thr930=) n.3374C>T c.1842C>T (p.Thr614=) c.1332C>T (p.Thr444=) c.*1788C>T (n.*1788C>T) c.3186C>T (p.Thr1062=) c.3168C>T (p.Thr1056=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721022_50721023insATT | CA2550773831 | SHANK3 | c.2790_2791insATT (p.Thr930_Ala931insIle) n.3374_3375insATT c.1842_1843insATT (p.Thr614_Ala615insIle) c.1332_1333insATT (p.Thr444_Ala445insIle) c.*1788_*1789insATT (n.*1788_*1789insATT) c.3186_3187insATT (p.Thr1062_Ala1063insIle) c.3168_3169insATT (p.Thr1056_Ala1057insIle) | |
22 | g.50721023G>A | CA515260945 | SHANK3 | c.2791G>A (p.Ala931Thr) n.3375G>A c.1843G>A (p.Ala615Thr) c.1333G>A (p.Ala445Thr) c.*1789G>A (n.*1789G>A) c.3187G>A (p.Ala1063Thr) c.3169G>A (p.Ala1057Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721023G>C | CA515260946 | SHANK3 | c.2791G>C (p.Ala931Pro) n.3375G>C c.1843G>C (p.Ala615Pro) c.1333G>C (p.Ala445Pro) c.*1789G>C (n.*1789G>C) c.3187G>C (p.Ala1063Pro) c.3169G>C (p.Ala1057Pro) | |
22 | g.50721023G= | CA2411007982 | SHANK3 | c.2791G= (p.Ala931=) n.3375G= c.1843G= (p.Ala615=) c.1333G= (p.Ala445=) c.*1789G= (n.*1789G=) c.3187G= (p.Ala1063=) c.3169G= (p.Ala1057=) | |
22 | g.50721023G>T | CA515260947 | SHANK3 | c.2791G>T (p.Ala931Ser) n.3375G>T c.1843G>T (p.Ala615Ser) c.1333G>T (p.Ala445Ser) c.*1789G>T (n.*1789G>T) c.3187G>T (p.Ala1063Ser) c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
22 | g.50721024C>A | CA515260950 | SHANK3 | c.2792C>A (p.Ala931Asp) n.3376C>A c.1844C>A (p.Ala615Asp) c.1334C>A (p.Ala445Asp) c.*1790C>A (n.*1790C>A) c.3188C>A (p.Ala1063Asp) c.3170C>A (p.Ala1057Asp) | gnomAD v4 |
22 | g.50721024C>G | CA515260948 | SHANK3 | c.2792C>G (p.Ala931Gly) n.3376C>G c.1844C>G (p.Ala615Gly) c.1334C>G (p.Ala445Gly) c.*1790C>G (n.*1790C>G) c.3188C>G (p.Ala1063Gly) c.3170C>G (p.Ala1057Gly) | |
22 | g.50721024C>T | CA515260949 | SHANK3 | c.2792C>T (p.Ala931Val) n.3376C>T c.1844C>T (p.Ala615Val) c.1334C>T (p.Ala445Val) c.*1790C>T (n.*1790C>T) c.3188C>T (p.Ala1063Val) c.3170C>T (p.Ala1057Val) | gnomAD v4 |
22 | g.50721025C>A | CA515260951 | SHANK3 | c.2793C>A (p.Ala931=) n.3377C>A c.1845C>A (p.Ala615=) c.1335C>A (p.Ala445=) c.*1791C>A (n.*1791C>A) c.3189C>A (p.Ala1063=) c.3171C>A (p.Ala1057=) | |
22 | g.50721025C= | CA2411007983 | SHANK3 | c.2793C= (p.Ala931=) n.3377C= c.1845C= (p.Ala615=) c.1335C= (p.Ala445=) c.*1791C= (n.*1791C=) c.3189C= (p.Ala1063=) c.3171C= (p.Ala1057=) | |
22 | g.50721025C>G | CA515260952 | SHANK3 | c.2793C>G (p.Ala931=) n.3377C>G c.1845C>G (p.Ala615=) c.1335C>G (p.Ala445=) c.*1791C>G (n.*1791C>G) c.3189C>G (p.Ala1063=) c.3171C>G (p.Ala1057=) | |
22 | g.50721025C>T | CA10325978 | SHANK3 | c.2793C>T (p.Ala931=) n.3377C>T c.1845C>T (p.Ala615=) c.1335C>T (p.Ala445=) c.*1791C>T (n.*1791C>T) c.3189C>T (p.Ala1063=) c.3171C>T (p.Ala1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721026G>A | CA10325979 | SHANK3 | c.2794G>A (p.Gly932Ser) n.3378G>A c.1846G>A (p.Gly616Ser) c.1336G>A (p.Gly446Ser) c.*1792G>A (n.*1792G>A) c.3190G>A (p.Gly1064Ser) c.3172G>A (p.Gly1058Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721026G>C | CA515260953 | SHANK3 | c.2794G>C (p.Gly932Arg) n.3378G>C c.1846G>C (p.Gly616Arg) c.1336G>C (p.Gly446Arg) c.*1792G>C (n.*1792G>C) c.3190G>C (p.Gly1064Arg) c.3172G>C (p.Gly1058Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721026G= | CA2411007984 | SHANK3 | c.2794G= (p.Gly932=) n.3378G= c.1846G= (p.Gly616=) c.1336G= (p.Gly446=) c.*1792G= (n.*1792G=) c.3190G= (p.Gly1064=) c.3172G= (p.Gly1058=) | |
22 | g.50721026G>T | CA515260954 | SHANK3 | c.2794G>T (p.Gly932Cys) n.3378G>T c.1846G>T (p.Gly616Cys) c.1336G>T (p.Gly446Cys) c.*1792G>T (n.*1792G>T) c.3190G>T (p.Gly1064Cys) c.3172G>T (p.Gly1058Cys) | gnomAD v4 |
22 | g.50721027G>A | CA515260955 | SHANK3 | c.2795G>A (p.Gly932Asp) n.3379G>A c.1847G>A (p.Gly616Asp) c.1337G>A (p.Gly446Asp) c.*1793G>A (n.*1793G>A) c.3191G>A (p.Gly1064Asp) c.3173G>A (p.Gly1058Asp) | gnomAD v4 |
22 | g.50721027G>C | CA515260956 | SHANK3 | c.2795G>C (p.Gly932Ala) n.3379G>C c.1847G>C (p.Gly616Ala) c.1337G>C (p.Gly446Ala) c.*1793G>C (n.*1793G>C) c.3191G>C (p.Gly1064Ala) c.3173G>C (p.Gly1058Ala) | |
22 | g.50721027G>T | CA515260957 | SHANK3 | c.2795G>T (p.Gly932Val) n.3379G>T c.1847G>T (p.Gly616Val) c.1337G>T (p.Gly446Val) c.*1793G>T (n.*1793G>T) c.3191G>T (p.Gly1064Val) c.3173G>T (p.Gly1058Val) | gnomAD v4 COSMIC COSMIC |
22 | g.50721028C>A | CA515260958 | SHANK3 | c.2796C>A (p.Gly932=) n.3380C>A c.1848C>A (p.Gly616=) c.1338C>A (p.Gly446=) c.*1794C>A (n.*1794C>A) c.3192C>A (p.Gly1064=) c.3174C>A (p.Gly1058=) | gnomAD v4 |
22 | g.50721028C= | CA2411007985 | SHANK3 | c.2796C= (p.Gly932=) n.3380C= c.1848C= (p.Gly616=) c.1338C= (p.Gly446=) c.*1794C= (n.*1794C=) c.3192C= (p.Gly1064=) c.3174C= (p.Gly1058=) | |
22 | g.50721028C>G | CA515260959 | SHANK3 | c.2796C>G (p.Gly932=) n.3380C>G c.1848C>G (p.Gly616=) c.1338C>G (p.Gly446=) c.*1794C>G (n.*1794C>G) c.3192C>G (p.Gly1064=) c.3174C>G (p.Gly1058=) | gnomAD v4 |
22 | g.50721028C>T | CA515260960 | SHANK3 | c.2796C>T (p.Gly932=) n.3380C>T c.1848C>T (p.Gly616=) c.1338C>T (p.Gly446=) c.*1794C>T (n.*1794C>T) c.3192C>T (p.Gly1064=) c.3174C>T (p.Gly1058=) | dbSNP gnomAD v4 |
22 | g.50721029C>A | CA515260962 | SHANK3 | c.2797C>A (p.Arg933Ser) n.3381C>A c.1849C>A (p.Arg617Ser) c.1339C>A (p.Arg447Ser) c.*1795C>A (n.*1795C>A) c.3193C>A (p.Arg1065Ser) c.3175C>A (p.Arg1059Ser) | gnomAD v4 |
22 | g.50721029C= | CA2411007986 | SHANK3 | c.2797C= (p.Arg933=) n.3381C= c.1849C= (p.Arg617=) c.1339C= (p.Arg447=) c.*1795C= (n.*1795C=) c.3193C= (p.Arg1065=) c.3175C= (p.Arg1059=) | |
22 | g.50721029C>G | CA515260963 | SHANK3 | c.2797C>G (p.Arg933Gly) n.3381C>G c.1849C>G (p.Arg617Gly) c.1339C>G (p.Arg447Gly) c.*1795C>G (n.*1795C>G) c.3193C>G (p.Arg1065Gly) c.3175C>G (p.Arg1059Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721029C>T | CA515260961 | SHANK3 | c.2797C>T (p.Arg933Cys) n.3381C>T c.1849C>T (p.Arg617Cys) c.1339C>T (p.Arg447Cys) c.*1795C>T (n.*1795C>T) c.3193C>T (p.Arg1065Cys) c.3175C>T (p.Arg1059Cys) | dbSNP gnomAD v4 |
22 | g.50721030G>A | CA10325980 | SHANK3 | c.2798G>A (p.Arg933His) n.3382G>A c.1850G>A (p.Arg617His) c.1340G>A (p.Arg447His) c.*1796G>A (n.*1796G>A) c.3194G>A (p.Arg1065His) c.3176G>A (p.Arg1059His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721030G>C | CA515260964 | SHANK3 | c.2798G>C (p.Arg933Pro) n.3382G>C c.1850G>C (p.Arg617Pro) c.1340G>C (p.Arg447Pro) c.*1796G>C (n.*1796G>C) c.3194G>C (p.Arg1065Pro) c.3176G>C (p.Arg1059Pro) | |
22 | g.50721030G= | CA2411007987 | SHANK3 | c.2798G= (p.Arg933=) n.3382G= c.1850G= (p.Arg617=) c.1340G= (p.Arg447=) c.*1796G= (n.*1796G=) c.3194G= (p.Arg1065=) c.3176G= (p.Arg1059=) | |
22 | g.50721030G>T | CA515260965 | SHANK3 | c.2798G>T (p.Arg933Leu) n.3382G>T c.1850G>T (p.Arg617Leu) c.1340G>T (p.Arg447Leu) c.*1796G>T (n.*1796G>T) c.3194G>T (p.Arg1065Leu) c.3176G>T (p.Arg1059Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721031C>A | CA515260966 | SHANK3 | c.2799C>A (p.Arg933=) n.3383C>A c.1851C>A (p.Arg617=) c.1341C>A (p.Arg447=) c.*1797C>A (n.*1797C>A) c.3195C>A (p.Arg1065=) c.3177C>A (p.Arg1059=) | gnomAD v4 |
22 | g.50721031C>G | CA515260967 | SHANK3 | c.2799C>G (p.Arg933=) n.3383C>G c.1851C>G (p.Arg617=) c.1341C>G (p.Arg447=) c.*1797C>G (n.*1797C>G) c.3195C>G (p.Arg1065=) c.3177C>G (p.Arg1059=) | |
22 | g.50721031C>T | CA515260968 | SHANK3 | c.2799C>T (p.Arg933=) n.3383C>T c.1851C>T (p.Arg617=) c.1341C>T (p.Arg447=) c.*1797C>T (n.*1797C>T) c.3195C>T (p.Arg1065=) c.3177C>T (p.Arg1059=) | gnomAD v4 |
22 | g.50721032G>A | CA515260971 | SHANK3 | c.2800G>A (p.Asp934Asn) n.3384G>A c.1852G>A (p.Asp618Asn) c.1342G>A (p.Asp448Asn) c.*1798G>A (n.*1798G>A) c.3196G>A (p.Asp1066Asn) c.3178G>A (p.Asp1060Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
22 | g.50721032G>C | CA515260969 | SHANK3 | c.2800G>C (p.Asp934His) n.3384G>C c.1852G>C (p.Asp618His) c.1342G>C (p.Asp448His) c.*1798G>C (n.*1798G>C) c.3196G>C (p.Asp1066His) c.3178G>C (p.Asp1060His) | |
22 | g.50721032G= | CA2411007988 | SHANK3 | c.2800G= (p.Asp934=) n.3384G= c.1852G= (p.Asp618=) c.1342G= (p.Asp448=) c.*1798G= (n.*1798G=) c.3196G= (p.Asp1066=) c.3178G= (p.Asp1060=) | |
22 | g.50721032G>T | CA515260970 | SHANK3 | c.2800G>T (p.Asp934Tyr) n.3384G>T c.1852G>T (p.Asp618Tyr) c.1342G>T (p.Asp448Tyr) c.*1798G>T (n.*1798G>T) c.3196G>T (p.Asp1066Tyr) c.3178G>T (p.Asp1060Tyr) | gnomAD v4 |
22 | g.50721033A= | CA2411007989 | SHANK3 | c.2801A= (p.Asp934=) n.3385A= c.1853A= (p.Asp618=) c.1343A= (p.Asp448=) c.*1799A= (n.*1799A=) c.3197A= (p.Asp1066=) c.3179A= (p.Asp1060=) | |
22 | g.50721033A>C | CA515260972 | SHANK3 | c.2801A>C (p.Asp934Ala) n.3385A>C c.1853A>C (p.Asp618Ala) c.1343A>C (p.Asp448Ala) c.*1799A>C (n.*1799A>C) c.3197A>C (p.Asp1066Ala) c.3179A>C (p.Asp1060Ala) | ClinVar gnomAD v4 |
22 | g.50721033A>G | CA515260973 | SHANK3 | c.2801A>G (p.Asp934Gly) n.3385A>G c.1853A>G (p.Asp618Gly) c.1343A>G (p.Asp448Gly) c.*1799A>G (n.*1799A>G) c.3197A>G (p.Asp1066Gly) c.3179A>G (p.Asp1060Gly) | dbSNP gnomAD v4 |
22 | g.50721033A>T | CA515260974 | SHANK3 | c.2801A>T (p.Asp934Val) n.3385A>T c.1853A>T (p.Asp618Val) c.1343A>T (p.Asp448Val) c.*1799A>T (n.*1799A>T) c.3197A>T (p.Asp1066Val) c.3179A>T (p.Asp1060Val) | |
22 | g.50721034C>A | CA515260975 | SHANK3 | c.2802C>A (p.Asp934Glu) n.3386C>A c.1854C>A (p.Asp618Glu) c.1344C>A (p.Asp448Glu) c.*1800C>A (n.*1800C>A) c.3198C>A (p.Asp1066Glu) c.3180C>A (p.Asp1060Glu) | gnomAD v4 |
22 | g.50721034C= | CA2411007990 | SHANK3 | c.2802C= (p.Asp934=) n.3386C= c.1854C= (p.Asp618=) c.1344C= (p.Asp448=) c.*1800C= (n.*1800C=) c.3198C= (p.Asp1066=) c.3180C= (p.Asp1060=) | |
22 | g.50721034C>G | CA515260976 | SHANK3 | c.2802C>G (p.Asp934Glu) n.3386C>G c.1854C>G (p.Asp618Glu) c.1344C>G (p.Asp448Glu) c.*1800C>G (n.*1800C>G) c.3198C>G (p.Asp1066Glu) c.3180C>G (p.Asp1060Glu) | gnomAD v4 |
22 | g.50721034C>T | CA515260977 | SHANK3 | c.2802C>T (p.Asp934=) n.3386C>T c.1854C>T (p.Asp618=) c.1344C>T (p.Asp448=) c.*1800C>T (n.*1800C>T) c.3198C>T (p.Asp1066=) c.3180C>T (p.Asp1060=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721035C>A | CA515260978 | SHANK3 | c.2803C>A (p.Leu935Met) n.3387C>A c.1855C>A (p.Leu619Met) c.1345C>A (p.Leu449Met) c.*1801C>A (n.*1801C>A) c.3199C>A (p.Leu1067Met) c.3181C>A (p.Leu1061Met) | |
22 | g.50721035C= | CA2411007991 | SHANK3 | c.2803C= (p.Leu935=) n.3387C= c.1855C= (p.Leu619=) c.1345C= (p.Leu449=) c.*1801C= (n.*1801C=) c.3199C= (p.Leu1067=) c.3181C= (p.Leu1061=) | |
22 | g.50721035C>G | CA515260980 | SHANK3 | c.2803C>G (p.Leu935Val) n.3387C>G c.1855C>G (p.Leu619Val) c.1345C>G (p.Leu449Val) c.*1801C>G (n.*1801C>G) c.3199C>G (p.Leu1067Val) c.3181C>G (p.Leu1061Val) | gnomAD v4 |
22 | g.50721035C>T | CA515260979 | SHANK3 | c.2803C>T (p.Leu935=) n.3387C>T c.1855C>T (p.Leu619=) c.1345C>T (p.Leu449=) c.*1801C>T (n.*1801C>T) c.3199C>T (p.Leu1067=) c.3181C>T (p.Leu1061=) | dbSNP gnomAD v4 |
22 | g.50721042_50721044dup | CA2577768682 | SHANK3 | c.2810_2812dup (p.Leu937_Pro938insLeu) n.3394_3396dup c.1862_1864dup (p.Leu621_Pro622insLeu) c.1352_1354dup (p.Leu451_Pro452insLeu) c.*1808_*1810dup (n.*1808_*1810dup) c.3206_3208dup (p.Leu1069_Pro1070insLeu) c.3188_3190dup (p.Leu1063_Pro1064insLeu) | |
22 | g.50721042_50721044del | CA2657583424 | SHANK3 | c.2810_2812del (p.Leu937del) n.3394_3396del c.1862_1864del (p.Leu621del) c.1352_1354del (p.Leu451del) c.*1808_*1810del (n.*1808_*1810del) c.3206_3208del (p.Leu1069del) c.3188_3190del (p.Leu1063del) | gnomAD v4 |
22 | g.50721036T>A | CA515260981 | SHANK3 | c.2804T>A (p.Leu935Gln) n.3388T>A c.1856T>A (p.Leu619Gln) c.1346T>A (p.Leu449Gln) c.*1802T>A (n.*1802T>A) c.3200T>A (p.Leu1067Gln) c.3182T>A (p.Leu1061Gln) | |
22 | g.50721036T>C | CA515260982 | SHANK3 | c.2804T>C (p.Leu935Pro) n.3388T>C c.1856T>C (p.Leu619Pro) c.1346T>C (p.Leu449Pro) c.*1802T>C (n.*1802T>C) c.3200T>C (p.Leu1067Pro) c.3182T>C (p.Leu1061Pro) | gnomAD v4 |
22 | g.50721036T>G | CA515260983 | SHANK3 | c.2804T>G (p.Leu935Arg) n.3388T>G c.1856T>G (p.Leu619Arg) c.1346T>G (p.Leu449Arg) c.*1802T>G (n.*1802T>G) c.3200T>G (p.Leu1067Arg) c.3182T>G (p.Leu1061Arg) | |
22 | g.50721037G>A | CA515260984 | SHANK3 | c.2805G>A (p.Leu935=) n.3389G>A c.1857G>A (p.Leu619=) c.1347G>A (p.Leu449=) c.*1803G>A (n.*1803G>A) c.3201G>A (p.Leu1067=) c.3183G>A (p.Leu1061=) | gnomAD v4 |
22 | g.50721037G>C | CA515260985 | SHANK3 | c.2805G>C (p.Leu935=) n.3389G>C c.1857G>C (p.Leu619=) c.1347G>C (p.Leu449=) c.*1803G>C (n.*1803G>C) c.3201G>C (p.Leu1067=) c.3183G>C (p.Leu1061=) | dbSNP gnomAD v2 |
22 | g.50721037G= | CA2411007992 | SHANK3 | c.2805G= (p.Leu935=) n.3389G= c.1857G= (p.Leu619=) c.1347G= (p.Leu449=) c.*1803G= (n.*1803G=) c.3201G= (p.Leu1067=) c.3183G= (p.Leu1061=) | |
22 | g.50721037G>T | CA515260986 | SHANK3 | c.2805G>T (p.Leu935=) n.3389G>T c.1857G>T (p.Leu619=) c.1347G>T (p.Leu449=) c.*1803G>T (n.*1803G>T) c.3201G>T (p.Leu1067=) c.3183G>T (p.Leu1061=) | gnomAD v4 |
22 | g.50721038C>A | CA515260987 | SHANK3 | c.2806C>A (p.Leu936Met) n.3390C>A c.1858C>A (p.Leu620Met) c.1348C>A (p.Leu450Met) c.*1804C>A (n.*1804C>A) c.3202C>A (p.Leu1068Met) c.3184C>A (p.Leu1062Met) | |
22 | g.50721038C= | CA2411007993 | SHANK3 | c.2806C= (p.Leu936=) n.3390C= c.1858C= (p.Leu620=) c.1348C= (p.Leu450=) c.*1804C= (n.*1804C=) c.3202C= (p.Leu1068=) c.3184C= (p.Leu1062=) | |
22 | g.50721038C>G | CA515260988 | SHANK3 | c.2806C>G (p.Leu936Val) n.3390C>G c.1858C>G (p.Leu620Val) c.1348C>G (p.Leu450Val) c.*1804C>G (n.*1804C>G) c.3202C>G (p.Leu1068Val) c.3184C>G (p.Leu1062Val) | gnomAD v4 |
22 | g.50721038C>T | CA515260989 | SHANK3 | c.2806C>T (p.Leu936=) n.3390C>T c.1858C>T (p.Leu620=) c.1348C>T (p.Leu450=) c.*1804C>T (n.*1804C>T) c.3202C>T (p.Leu1068=) c.3184C>T (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721039T>A | CA515260990 | SHANK3 | c.2807T>A (p.Leu936Gln) n.3391T>A c.1859T>A (p.Leu620Gln) c.1349T>A (p.Leu450Gln) c.*1805T>A (n.*1805T>A) c.3203T>A (p.Leu1068Gln) c.3185T>A (p.Leu1062Gln) | |
22 | g.50721039T>C | CA515260991 | SHANK3 | c.2807T>C (p.Leu936Pro) n.3391T>C c.1859T>C (p.Leu620Pro) c.1349T>C (p.Leu450Pro) c.*1805T>C (n.*1805T>C) c.3203T>C (p.Leu1068Pro) c.3185T>C (p.Leu1062Pro) | |
22 | g.50721039T>G | CA515260992 | SHANK3 | c.2807T>G (p.Leu936Arg) n.3391T>G c.1859T>G (p.Leu620Arg) c.1349T>G (p.Leu450Arg) c.*1805T>G (n.*1805T>G) c.3203T>G (p.Leu1068Arg) c.3185T>G (p.Leu1062Arg) | |
22 | g.50721040G>A | CA515260993 | SHANK3 | c.2808G>A (p.Leu936=) n.3392G>A c.1860G>A (p.Leu620=) c.1350G>A (p.Leu450=) c.*1806G>A (n.*1806G>A) c.3204G>A (p.Leu1068=) c.3186G>A (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721040G>C | CA515260995 | SHANK3 | c.2808G>C (p.Leu936=) n.3392G>C c.1860G>C (p.Leu620=) c.1350G>C (p.Leu450=) c.*1806G>C (n.*1806G>C) c.3204G>C (p.Leu1068=) c.3186G>C (p.Leu1062=) | |
22 | g.50721040G= | CA2411007994 | SHANK3 | c.2808G= (p.Leu936=) n.3392G= c.1860G= (p.Leu620=) c.1350G= (p.Leu450=) c.*1806G= (n.*1806G=) c.3204G= (p.Leu1068=) c.3186G= (p.Leu1062=) | |
22 | g.50721040G>T | CA515260994 | SHANK3 | c.2808G>T (p.Leu936=) n.3392G>T c.1860G>T (p.Leu620=) c.1350G>T (p.Leu450=) c.*1806G>T (n.*1806G>T) c.3204G>T (p.Leu1068=) c.3186G>T (p.Leu1062=) | gnomAD v4 |
22 | g.50721041C>A | CA515260996 | SHANK3 | c.2809C>A (p.Leu937Met) n.3393C>A c.1861C>A (p.Leu621Met) c.1351C>A (p.Leu451Met) c.*1807C>A (n.*1807C>A) c.3205C>A (p.Leu1069Met) c.3187C>A (p.Leu1063Met) | gnomAD v4 |
22 | g.50721041C>G | CA515260997 | SHANK3 | c.2809C>G (p.Leu937Val) n.3393C>G c.1861C>G (p.Leu621Val) c.1351C>G (p.Leu451Val) c.*1807C>G (n.*1807C>G) c.3205C>G (p.Leu1069Val) c.3187C>G (p.Leu1063Val) | |
22 | g.50721041C>T | CA515260998 | SHANK3 | c.2809C>T (p.Leu937=) n.3393C>T c.1861C>T (p.Leu621=) c.1351C>T (p.Leu451=) c.*1807C>T (n.*1807C>T) c.3205C>T (p.Leu1069=) c.3187C>T (p.Leu1063=) | gnomAD v4 |
22 | g.50721048_50721063dup | CA1139667205 | SHANK3 | c.2816_2831dup (p.Lys945ProfsTer?) n.3400_3415dup c.1868_1883dup (p.Lys629ProfsTer?) c.1358_1373dup (p.Lys459ProfsTer?) c.*1814_*1829dup (n.*1814_*1829dup) c.3212_3227dup (p.Lys1077ProfsTer?) c.3194_3209dup (p.Lys1071ProfsTer?) | ClinVar dbSNP |
22 | g.50721042T>A | CA515260999 | SHANK3 | c.2810T>A (p.Leu937Gln) n.3394T>A c.1862T>A (p.Leu621Gln) c.1352T>A (p.Leu451Gln) c.*1808T>A (n.*1808T>A) c.3206T>A (p.Leu1069Gln) c.3188T>A (p.Leu1063Gln) | gnomAD v4 |
22 | g.50721042T>C | CA515261000 | SHANK3 | c.2810T>C (p.Leu937Pro) n.3394T>C c.1862T>C (p.Leu621Pro) c.1352T>C (p.Leu451Pro) c.*1808T>C (n.*1808T>C) c.3206T>C (p.Leu1069Pro) c.3188T>C (p.Leu1063Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721042T>G | CA515261001 | SHANK3 | c.2810T>G (p.Leu937Arg) n.3394T>G c.1862T>G (p.Leu621Arg) c.1352T>G (p.Leu451Arg) c.*1808T>G (n.*1808T>G) c.3206T>G (p.Leu1069Arg) c.3188T>G (p.Leu1063Arg) | |
22 | g.50721042T= | CA2411007995 | SHANK3 | c.2810T= (p.Leu937=) n.3394T= c.1862T= (p.Leu621=) c.1352T= (p.Leu451=) c.*1808T= (n.*1808T=) c.3206T= (p.Leu1069=) c.3188T= (p.Leu1063=) | |
22 | g.50721043G>A | CA515261002 | SHANK3 | c.2811G>A (p.Leu937=) n.3395G>A c.1863G>A (p.Leu621=) c.1353G>A (p.Leu451=) c.*1809G>A (n.*1809G>A) c.3207G>A (p.Leu1069=) c.3189G>A (p.Leu1063=) | gnomAD v4 |
22 | g.50721043G>C | CA515261003 | SHANK3 | c.2811G>C (p.Leu937=) n.3395G>C c.1863G>C (p.Leu621=) c.1353G>C (p.Leu451=) c.*1809G>C (n.*1809G>C) c.3207G>C (p.Leu1069=) c.3189G>C (p.Leu1063=) | |
22 | g.50721043G= | CA2411007996 | SHANK3 | c.2811G= (p.Leu937=) n.3395G= c.1863G= (p.Leu621=) c.1353G= (p.Leu451=) c.*1809G= (n.*1809G=) c.3207G= (p.Leu1069=) c.3189G= (p.Leu1063=) | |
22 | g.50721043G>T | CA515261004 | SHANK3 | c.2811G>T (p.Leu937=) n.3395G>T c.1863G>T (p.Leu621=) c.1353G>T (p.Leu451=) c.*1809G>T (n.*1809G>T) c.3207G>T (p.Leu1069=) c.3189G>T (p.Leu1063=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
22 | g.50721044C>A | CA515261005 | SHANK3 | c.2812C>A (p.Pro938Thr) n.3396C>A c.1864C>A (p.Pro622Thr) c.1354C>A (p.Pro452Thr) c.*1810C>A (n.*1810C>A) c.3208C>A (p.Pro1070Thr) c.3190C>A (p.Pro1064Thr) | gnomAD v4 |
22 | g.50721044C= | CA2411007997 | SHANK3 | c.2812C= (p.Pro938=) n.3396C= c.1864C= (p.Pro622=) c.1354C= (p.Pro452=) c.*1810C= (n.*1810C=) c.3208C= (p.Pro1070=) c.3190C= (p.Pro1064=) | |
22 | g.50721044C>G | CA515261006 | SHANK3 | c.2812C>G (p.Pro938Ala) n.3396C>G c.1864C>G (p.Pro622Ala) c.1354C>G (p.Pro452Ala) c.*1810C>G (n.*1810C>G) c.3208C>G (p.Pro1070Ala) c.3190C>G (p.Pro1064Ala) | |
22 | g.50721044C>T | CA325578581 | SHANK3 | c.2812C>T (p.Pro938Ser) n.3396C>T c.1864C>T (p.Pro622Ser) c.1354C>T (p.Pro452Ser) c.*1810C>T (n.*1810C>T) c.3208C>T (p.Pro1070Ser) c.3190C>T (p.Pro1064Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721046dup | CA2841608985 | SHANK3 | c.2814dup (p.Ser939LeufsTer?) n.3398dup c.1866dup (p.Ser623LeufsTer?) c.1356dup (p.Ser453LeufsTer?) c.*1812dup (n.*1812dup) c.3210dup (p.Ser1071LeufsTer?) c.3192dup (p.Ser1065LeufsTer?) | |
22 | g.50721045C>A | CA515261009 | SHANK3 | c.2813C>A (p.Pro938His) n.3397C>A c.1865C>A (p.Pro622His) c.1355C>A (p.Pro452His) c.*1811C>A (n.*1811C>A) c.3209C>A (p.Pro1070His) c.3191C>A (p.Pro1064His) | gnomAD v4 |
22 | g.50721045C>G | CA515261008 | SHANK3 | c.2813C>G (p.Pro938Arg) n.3397C>G c.1865C>G (p.Pro622Arg) c.1355C>G (p.Pro452Arg) c.*1811C>G (n.*1811C>G) c.3209C>G (p.Pro1070Arg) c.3191C>G (p.Pro1064Arg) | |
22 | g.50721045C>T | CA515261007 | SHANK3 | c.2813C>T (p.Pro938Leu) n.3397C>T c.1865C>T (p.Pro622Leu) c.1355C>T (p.Pro452Leu) c.*1811C>T (n.*1811C>T) c.3209C>T (p.Pro1070Leu) c.3191C>T (p.Pro1064Leu) | gnomAD v4 |
22 | g.50721046C>A | CA515261010 | SHANK3 | c.2814C>A (p.Pro938=) n.3398C>A c.1866C>A (p.Pro622=) c.1356C>A (p.Pro452=) c.*1812C>A (n.*1812C>A) c.3210C>A (p.Pro1070=) c.3192C>A (p.Pro1064=) | dbSNP gnomAD v4 |
22 | g.50721046C= | CA2411007998 | SHANK3 | c.2814C= (p.Pro938=) n.3398C= c.1866C= (p.Pro622=) c.1356C= (p.Pro452=) c.*1812C= (n.*1812C=) c.3210C= (p.Pro1070=) c.3192C= (p.Pro1064=) | |
22 | g.50721046C>G | CA515261011 | SHANK3 | c.2814C>G (p.Pro938=) n.3398C>G c.1866C>G (p.Pro622=) c.1356C>G (p.Pro452=) c.*1812C>G (n.*1812C>G) c.3210C>G (p.Pro1070=) c.3192C>G (p.Pro1064=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721046C>T | CA515261012 | SHANK3 | c.2814C>T (p.Pro938=) n.3398C>T c.1866C>T (p.Pro622=) c.1356C>T (p.Pro452=) c.*1812C>T (n.*1812C>T) c.3210C>T (p.Pro1070=) c.3192C>T (p.Pro1064=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721047T>A | CA515261013 | SHANK3 | c.2815T>A (p.Ser939Thr) n.3399T>A c.1867T>A (p.Ser623Thr) c.1357T>A (p.Ser453Thr) c.*1813T>A (n.*1813T>A) c.3211T>A (p.Ser1071Thr) c.3193T>A (p.Ser1065Thr) | |
22 | g.50721047T>C | CA515261014 | SHANK3 | c.2815T>C (p.Ser939Pro) n.3399T>C c.1867T>C (p.Ser623Pro) c.1357T>C (p.Ser453Pro) c.*1813T>C (n.*1813T>C) c.3211T>C (p.Ser1071Pro) c.3193T>C (p.Ser1065Pro) | gnomAD v4 |
22 | g.50721047T>G | CA515261015 | SHANK3 | c.2815T>G (p.Ser939Ala) n.3399T>G c.1867T>G (p.Ser623Ala) c.1357T>G (p.Ser453Ala) c.*1813T>G (n.*1813T>G) c.3211T>G (p.Ser1071Ala) c.3193T>G (p.Ser1065Ala) | |
22 | g.50721048C>A | CA515261016 | SHANK3 | c.2816C>A (p.Ser939Tyr) n.3400C>A c.1868C>A (p.Ser623Tyr) c.1358C>A (p.Ser453Tyr) c.*1814C>A (n.*1814C>A) c.3212C>A (p.Ser1071Tyr) c.3194C>A (p.Ser1065Tyr) | gnomAD v4 |
22 | g.50721048C= | CA2411007999 | SHANK3 | c.2816C= (p.Ser939=) n.3400C= c.1868C= (p.Ser623=) c.1358C= (p.Ser453=) c.*1814C= (n.*1814C=) c.3212C= (p.Ser1071=) c.3194C= (p.Ser1065=) | |
22 | g.50721048C>G | CA515261017 | SHANK3 | c.2816C>G (p.Ser939Cys) n.3400C>G c.1868C>G (p.Ser623Cys) c.1358C>G (p.Ser453Cys) c.*1814C>G (n.*1814C>G) c.3212C>G (p.Ser1071Cys) c.3194C>G (p.Ser1065Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721048C>T | CA515261018 | SHANK3 | c.2816C>T (p.Ser939Phe) n.3400C>T c.1868C>T (p.Ser623Phe) c.1358C>T (p.Ser453Phe) c.*1814C>T (n.*1814C>T) c.3212C>T (p.Ser1071Phe) c.3194C>T (p.Ser1065Phe) | gnomAD v4 |
22 | g.50721051del | CA2580099978 | SHANK3 | c.2819del (p.Pro940ArgfsTer5) n.3403del c.1871del (p.Pro624ArgfsTer5) c.1361del (p.Pro454ArgfsTer5) c.*1817del (n.*1817del) c.3215del (p.Pro1072ArgfsTer5) c.3197del (p.Pro1066ArgfsTer5) | ClinVar gnomAD v4 |
22 | g.50721049C>A | CA515261019 | SHANK3 | c.2817C>A (p.Ser939=) n.3401C>A c.1869C>A (p.Ser623=) c.1359C>A (p.Ser453=) c.*1815C>A (n.*1815C>A) c.3213C>A (p.Ser1071=) c.3195C>A (p.Ser1065=) | dbSNP gnomAD v4 |
22 | g.50721049C= | CA2411008000 | SHANK3 | c.2817C= (p.Ser939=) n.3401C= c.1869C= (p.Ser623=) c.1359C= (p.Ser453=) c.*1815C= (n.*1815C=) c.3213C= (p.Ser1071=) c.3195C= (p.Ser1065=) | |
22 | g.50721049C>G | CA515261020 | SHANK3 | c.2817C>G (p.Ser939=) n.3401C>G c.1869C>G (p.Ser623=) c.1359C>G (p.Ser453=) c.*1815C>G (n.*1815C>G) c.3213C>G (p.Ser1071=) c.3195C>G (p.Ser1065=) | |
22 | g.50721049C>T | CA10325981 | SHANK3 | c.2817C>T (p.Ser939=) n.3401C>T c.1869C>T (p.Ser623=) c.1359C>T (p.Ser453=) c.*1815C>T (n.*1815C>T) c.3213C>T (p.Ser1071=) c.3195C>T (p.Ser1065=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721050C>A | CA515261021 | SHANK3 | c.2818C>A (p.Pro940Thr) n.3402C>A c.1870C>A (p.Pro624Thr) c.1360C>A (p.Pro454Thr) c.*1816C>A (n.*1816C>A) c.3214C>A (p.Pro1072Thr) c.3196C>A (p.Pro1066Thr) | gnomAD v4 |
22 | g.50721050C= | CA2411008001 | SHANK3 | c.2818C= (p.Pro940=) n.3402C= c.1870C= (p.Pro624=) c.1360C= (p.Pro454=) c.*1816C= (n.*1816C=) c.3214C= (p.Pro1072=) c.3196C= (p.Pro1066=) | |
22 | g.50721050C>G | CA515261023 | SHANK3 | c.2818C>G (p.Pro940Ala) n.3402C>G c.1870C>G (p.Pro624Ala) c.1360C>G (p.Pro454Ala) c.*1816C>G (n.*1816C>G) c.3214C>G (p.Pro1072Ala) c.3196C>G (p.Pro1066Ala) | gnomAD v4 |
22 | g.50721050C>T | CA515261022 | SHANK3 | c.2818C>T (p.Pro940Ser) n.3402C>T c.1870C>T (p.Pro624Ser) c.1360C>T (p.Pro454Ser) c.*1816C>T (n.*1816C>T) c.3214C>T (p.Pro1072Ser) c.3196C>T (p.Pro1066Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721051_50721057del | CA2580099980 | SHANK3 | c.2819_2825del (p.Pro940LeufsTer3) n.3403_3409del c.1871_1877del (p.Pro624LeufsTer3) c.1361_1367del (p.Pro454LeufsTer3) c.*1817_*1823del (n.*1817_*1823del) c.3215_3221del (p.Pro1072LeufsTer3) c.3197_3203del (p.Pro1066LeufsTer3) | ClinVar |
22 | g.50721051C>A | CA515261024 | SHANK3 | c.2819C>A (p.Pro940Gln) n.3403C>A c.1871C>A (p.Pro624Gln) c.1361C>A (p.Pro454Gln) c.*1817C>A (n.*1817C>A) c.3215C>A (p.Pro1072Gln) c.3197C>A (p.Pro1066Gln) | |
22 | g.50721051C= | CA2411008002 | SHANK3 | c.2819C= (p.Pro940=) n.3403C= c.1871C= (p.Pro624=) c.1361C= (p.Pro454=) c.*1817C= (n.*1817C=) c.3215C= (p.Pro1072=) c.3197C= (p.Pro1066=) | |
22 | g.50721051C>G | CA10325982 | SHANK3 | c.2819C>G (p.Pro940Arg) n.3403C>G c.1871C>G (p.Pro624Arg) c.1361C>G (p.Pro454Arg) c.*1817C>G (n.*1817C>G) c.3215C>G (p.Pro1072Arg) c.3197C>G (p.Pro1066Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721051C>T | CA515261025 | SHANK3 | c.2819C>T (p.Pro940Leu) n.3403C>T c.1871C>T (p.Pro624Leu) c.1361C>T (p.Pro454Leu) c.*1817C>T (n.*1817C>T) c.3215C>T (p.Pro1072Leu) c.3197C>T (p.Pro1066Leu) | ClinVar dbSNP gnomAD v4 |
22 | g.50721052G>A | CA10325983 | SHANK3 | c.2820G>A (p.Pro940=) n.3404G>A c.1872G>A (p.Pro624=) c.1362G>A (p.Pro454=) c.*1818G>A (n.*1818G>A) c.3216G>A (p.Pro1072=) c.3198G>A (p.Pro1066=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721052G>C | CA515261026 | SHANK3 | c.2820G>C (p.Pro940=) n.3404G>C c.1872G>C (p.Pro624=) c.1362G>C (p.Pro454=) c.*1818G>C (n.*1818G>C) c.3216G>C (p.Pro1072=) c.3198G>C (p.Pro1066=) | gnomAD v4 |
22 | g.50721052G= | CA2411008003 | SHANK3 | c.2820G= (p.Pro940=) n.3404G= c.1872G= (p.Pro624=) c.1362G= (p.Pro454=) c.*1818G= (n.*1818G=) c.3216G= (p.Pro1072=) c.3198G= (p.Pro1066=) | |
22 | g.50721052G>T | CA515261027 | SHANK3 | c.2820G>T (p.Pro940=) n.3404G>T c.1872G>T (p.Pro624=) c.1362G>T (p.Pro454=) c.*1818G>T (n.*1818G>T) c.3216G>T (p.Pro1072=) c.3198G>T (p.Pro1066=) | gnomAD v4 |
22 | g.50721053G>A | CA515261028 | SHANK3 | c.2821G>A (p.Val941Met) n.3405G>A c.1873G>A (p.Val625Met) c.1363G>A (p.Val455Met) c.*1819G>A (n.*1819G>A) c.3217G>A (p.Val1073Met) c.3199G>A (p.Val1067Met) | |
22 | g.50721053G>C | CA10325984 | SHANK3 | c.2821G>C (p.Val941Leu) n.3405G>C c.1873G>C (p.Val625Leu) c.1363G>C (p.Val455Leu) c.*1819G>C (n.*1819G>C) c.3217G>C (p.Val1073Leu) c.3199G>C (p.Val1067Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721053G= | CA2411008004 | SHANK3 | c.2821G= (p.Val941=) n.3405G= c.1873G= (p.Val625=) c.1363G= (p.Val455=) c.*1819G= (n.*1819G=) c.3217G= (p.Val1073=) c.3199G= (p.Val1067=) | |
22 | g.50721053G>T | CA515261029 | SHANK3 | c.2821G>T (p.Val941Leu) n.3405G>T c.1873G>T (p.Val625Leu) c.1363G>T (p.Val455Leu) c.*1819G>T (n.*1819G>T) c.3217G>T (p.Val1073Leu) c.3199G>T (p.Val1067Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721054T>A | CA515261032 | SHANK3 | c.2822T>A (p.Val941Glu) n.3406T>A c.1874T>A (p.Val625Glu) c.1364T>A (p.Val455Glu) c.*1820T>A (n.*1820T>A) c.3218T>A (p.Val1073Glu) c.3200T>A (p.Val1067Glu) | |
22 | g.50721054T>C | CA515261031 | SHANK3 | c.2822T>C (p.Val941Ala) n.3406T>C c.1874T>C (p.Val625Ala) c.1364T>C (p.Val455Ala) c.*1820T>C (n.*1820T>C) c.3218T>C (p.Val1073Ala) c.3200T>C (p.Val1067Ala) | |
22 | g.50721054T>G | CA515261030 | SHANK3 | c.2822T>G (p.Val941Gly) n.3406T>G c.1874T>G (p.Val625Gly) c.1364T>G (p.Val455Gly) c.*1820T>G (n.*1820T>G) c.3218T>G (p.Val1073Gly) c.3200T>G (p.Val1067Gly) | |
22 | g.50721055G>A | CA515261033 | SHANK3 | c.2823G>A (p.Val941=) n.3407G>A c.1875G>A (p.Val625=) c.1365G>A (p.Val455=) c.*1821G>A (n.*1821G>A) c.3219G>A (p.Val1073=) c.3201G>A (p.Val1067=) | gnomAD v4 |
22 | g.50721055G>C | CA515261034 | SHANK3 | c.2823G>C (p.Val941=) n.3407G>C c.1875G>C (p.Val625=) c.1365G>C (p.Val455=) c.*1821G>C (n.*1821G>C) c.3219G>C (p.Val1073=) c.3201G>C (p.Val1067=) | |
22 | g.50721055G>T | CA515261035 | SHANK3 | c.2823G>T (p.Val941=) n.3407G>T c.1875G>T (p.Val625=) c.1365G>T (p.Val455=) c.*1821G>T (n.*1821G>T) c.3219G>T (p.Val1073=) c.3201G>T (p.Val1067=) | |
22 | g.50721056T>A | CA515261036 | SHANK3 | c.2824T>A (p.Ser942Thr) n.3408T>A c.1876T>A (p.Ser626Thr) c.1366T>A (p.Ser456Thr) c.*1822T>A (n.*1822T>A) c.3220T>A (p.Ser1074Thr) c.3202T>A (p.Ser1068Thr) | |
22 | g.50721056T>C | CA515261037 | SHANK3 | c.2824T>C (p.Ser942Pro) n.3408T>C c.1876T>C (p.Ser626Pro) c.1366T>C (p.Ser456Pro) c.*1822T>C (n.*1822T>C) c.3220T>C (p.Ser1074Pro) c.3202T>C (p.Ser1068Pro) | |
22 | g.50721056T>G | CA515261038 | SHANK3 | c.2824T>G (p.Ser942Ala) n.3408T>G c.1876T>G (p.Ser626Ala) c.1366T>G (p.Ser456Ala) c.*1822T>G (n.*1822T>G) c.3220T>G (p.Ser1074Ala) c.3202T>G (p.Ser1068Ala) | |
22 | g.50721057C>A | CA515261039 | SHANK3 | c.2825C>A (p.Ser942Tyr) n.3409C>A c.1877C>A (p.Ser626Tyr) c.1367C>A (p.Ser456Tyr) c.*1823C>A (n.*1823C>A) c.3221C>A (p.Ser1074Tyr) c.3203C>A (p.Ser1068Tyr) | |
22 | g.50721057C>G | CA515261041 | SHANK3 | c.2825C>G (p.Ser942Cys) n.3409C>G c.1877C>G (p.Ser626Cys) c.1367C>G (p.Ser456Cys) c.*1823C>G (n.*1823C>G) c.3221C>G (p.Ser1074Cys) c.3203C>G (p.Ser1068Cys) | gnomAD v4 |
22 | g.50721057C>T | CA515261040 | SHANK3 | c.2825C>T (p.Ser942Phe) n.3409C>T c.1877C>T (p.Ser626Phe) c.1367C>T (p.Ser456Phe) c.*1823C>T (n.*1823C>T) c.3221C>T (p.Ser1074Phe) c.3203C>T (p.Ser1068Phe) | |
22 | g.50721058T>A | CA515261042 | SHANK3 | c.2826T>A (p.Ser942=) n.3410T>A c.1878T>A (p.Ser626=) c.1368T>A (p.Ser456=) c.*1824T>A (n.*1824T>A) c.3222T>A (p.Ser1074=) c.3204T>A (p.Ser1068=) | gnomAD v4 |
22 | g.50721058T>C | CA515261043 | SHANK3 | c.2826T>C (p.Ser942=) n.3410T>C c.1878T>C (p.Ser626=) c.1368T>C (p.Ser456=) c.*1824T>C (n.*1824T>C) c.3222T>C (p.Ser1074=) c.3204T>C (p.Ser1068=) | gnomAD v4 |
22 | g.50721058T>G | CA515261044 | SHANK3 | c.2826T>G (p.Ser942=) n.3410T>G c.1878T>G (p.Ser626=) c.1368T>G (p.Ser456=) c.*1824T>G (n.*1824T>G) c.3222T>G (p.Ser1074=) c.3204T>G (p.Ser1068=) | |
22 | g.50721059G>A | CA515261045 | SHANK3 | c.2827G>A (p.Ala943Thr) n.3411G>A c.1879G>A (p.Ala627Thr) c.1369G>A (p.Ala457Thr) c.*1825G>A (n.*1825G>A) c.3223G>A (p.Ala1075Thr) c.3205G>A (p.Ala1069Thr) | gnomAD v4 |
22 | g.50721059G>C | CA515261046 | SHANK3 | c.2827G>C (p.Ala943Pro) n.3411G>C c.1879G>C (p.Ala627Pro) c.1369G>C (p.Ala457Pro) c.*1825G>C (n.*1825G>C) c.3223G>C (p.Ala1075Pro) c.3205G>C (p.Ala1069Pro) | |
22 | g.50721059G>T | CA515261047 | SHANK3 | c.2827G>T (p.Ala943Ser) n.3411G>T c.1879G>T (p.Ala627Ser) c.1369G>T (p.Ala457Ser) c.*1825G>T (n.*1825G>T) c.3223G>T (p.Ala1075Ser) c.3205G>T (p.Ala1069Ser) | gnomAD v4 |
22 | g.50721060C>A | CA515261048 | SHANK3 | c.2828C>A (p.Ala943Asp) n.3412C>A c.1880C>A (p.Ala627Asp) c.1370C>A (p.Ala457Asp) c.*1826C>A (n.*1826C>A) c.3224C>A (p.Ala1075Asp) c.3206C>A (p.Ala1069Asp) | |
22 | g.50721060C= | CA2411008005 | SHANK3 | c.2828C= (p.Ala943=) n.3412C= c.1880C= (p.Ala627=) c.1370C= (p.Ala457=) c.*1826C= (n.*1826C=) c.3224C= (p.Ala1075=) c.3206C= (p.Ala1069=) | |
22 | g.50721060C>G | CA515261049 | SHANK3 | c.2828C>G (p.Ala943Gly) n.3412C>G c.1880C>G (p.Ala627Gly) c.1370C>G (p.Ala457Gly) c.*1826C>G (n.*1826C>G) c.3224C>G (p.Ala1075Gly) c.3206C>G (p.Ala1069Gly) | |
22 | g.50721060C>T | CA515261050 | SHANK3 | c.2828C>T (p.Ala943Val) n.3412C>T c.1880C>T (p.Ala627Val) c.1370C>T (p.Ala457Val) c.*1826C>T (n.*1826C>T) c.3224C>T (p.Ala1075Val) c.3206C>T (p.Ala1069Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721061C>A | CA515261051 | SHANK3 | c.2829C>A (p.Ala943=) n.3413C>A c.1881C>A (p.Ala627=) c.1371C>A (p.Ala457=) c.*1827C>A (n.*1827C>A) c.3225C>A (p.Ala1075=) c.3207C>A (p.Ala1069=) | |
22 | g.50721061C= | CA2411008006 | SHANK3 | c.2829C= (p.Ala943=) n.3413C= c.1881C= (p.Ala627=) c.1371C= (p.Ala457=) c.*1827C= (n.*1827C=) c.3225C= (p.Ala1075=) c.3207C= (p.Ala1069=) | |
22 | g.50721061C>G | CA515261052 | SHANK3 | c.2829C>G (p.Ala943=) n.3413C>G c.1881C>G (p.Ala627=) c.1371C>G (p.Ala457=) c.*1827C>G (n.*1827C>G) c.3225C>G (p.Ala1075=) c.3207C>G (p.Ala1069=) | gnomAD v4 |
22 | g.50721061C>T | CA325578598 | SHANK3 | c.2829C>T (p.Ala943=) n.3413C>T c.1881C>T (p.Ala627=) c.1371C>T (p.Ala457=) c.*1827C>T (n.*1827C>T) c.3225C>T (p.Ala1075=) c.3207C>T (p.Ala1069=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721062C>A | CA515261053 | SHANK3 | c.2830C>A (p.Leu944Met) n.3414C>A c.1882C>A (p.Leu628Met) c.1372C>A (p.Leu458Met) c.*1828C>A (n.*1828C>A) c.3226C>A (p.Leu1076Met) c.3208C>A (p.Leu1070Met) | gnomAD v4 |
22 | g.50721062C= | CA2411008007 | SHANK3 | c.2830C= (p.Leu944=) n.3414C= c.1882C= (p.Leu628=) c.1372C= (p.Leu458=) c.*1828C= (n.*1828C=) c.3226C= (p.Leu1076=) c.3208C= (p.Leu1070=) | |
22 | g.50721062C>G | CA515261054 | SHANK3 | c.2830C>G (p.Leu944Val) n.3414C>G c.1882C>G (p.Leu628Val) c.1372C>G (p.Leu458Val) c.*1828C>G (n.*1828C>G) c.3226C>G (p.Leu1076Val) c.3208C>G (p.Leu1070Val) | |
22 | g.50721062C>T | CA10325985 | SHANK3 | c.2830C>T (p.Leu944=) n.3414C>T c.1882C>T (p.Leu628=) c.1372C>T (p.Leu458=) c.*1828C>T (n.*1828C>T) c.3226C>T (p.Leu1076=) c.3208C>T (p.Leu1070=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721063T>A | CA515261055 | SHANK3 | c.2831T>A (p.Leu944Gln) n.3415T>A c.1883T>A (p.Leu628Gln) c.1373T>A (p.Leu458Gln) c.*1829T>A (n.*1829T>A) c.3227T>A (p.Leu1076Gln) c.3209T>A (p.Leu1070Gln) | ClinVar |
22 | g.50721063T>C | CA10325986 | SHANK3 | c.2831T>C (p.Leu944Pro) n.3415T>C c.1883T>C (p.Leu628Pro) c.1373T>C (p.Leu458Pro) c.*1829T>C (n.*1829T>C) c.3227T>C (p.Leu1076Pro) c.3209T>C (p.Leu1070Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721063T>G | CA515261056 | SHANK3 | c.2831T>G (p.Leu944Arg) n.3415T>G c.1883T>G (p.Leu628Arg) c.1373T>G (p.Leu458Arg) c.*1829T>G (n.*1829T>G) c.3227T>G (p.Leu1076Arg) c.3209T>G (p.Leu1070Arg) | |
22 | g.50721063T= | CA2411008008 | SHANK3 | c.2831T= (p.Leu944=) n.3415T= c.1883T= (p.Leu628=) c.1373T= (p.Leu458=) c.*1829T= (n.*1829T=) c.3227T= (p.Leu1076=) c.3209T= (p.Leu1070=) | |
22 | g.50721064G>A | CA515261057 | SHANK3 | c.2832G>A (p.Leu944=) n.3416G>A c.1884G>A (p.Leu628=) c.1374G>A (p.Leu458=) c.*1830G>A (n.*1830G>A) c.3228G>A (p.Leu1076=) c.3210G>A (p.Leu1070=) | gnomAD v4 |
22 | g.50721064G>C | CA515261058 | SHANK3 | c.2832G>C (p.Leu944=) n.3416G>C c.1884G>C (p.Leu628=) c.1374G>C (p.Leu458=) c.*1830G>C (n.*1830G>C) c.3228G>C (p.Leu1076=) c.3210G>C (p.Leu1070=) | |
22 | g.50721064G>T | CA515261059 | SHANK3 | c.2832G>T (p.Leu944=) n.3416G>T c.1884G>T (p.Leu628=) c.1374G>T (p.Leu458=) c.*1830G>T (n.*1830G>T) c.3228G>T (p.Leu1076=) c.3210G>T (p.Leu1070=) | |
22 | g.50721065A= | CA2411008009 | SHANK3 | c.2833A= (p.Lys945=) n.3417A= c.1885A= (p.Lys629=) c.1375A= (p.Lys459=) c.*1831A= (n.*1831A=) c.3229A= (p.Lys1077=) c.3211A= (p.Lys1071=) | |
22 | g.50721065A>C | CA515261060 | SHANK3 | c.2833A>C (p.Lys945Gln) n.3417A>C c.1885A>C (p.Lys629Gln) c.1375A>C (p.Lys459Gln) c.*1831A>C (n.*1831A>C) c.3229A>C (p.Lys1077Gln) c.3211A>C (p.Lys1071Gln) | |
22 | g.50721065A>G | CA515261061 | SHANK3 | c.2833A>G (p.Lys945Glu) n.3417A>G c.1885A>G (p.Lys629Glu) c.1375A>G (p.Lys459Glu) c.*1831A>G (n.*1831A>G) c.3229A>G (p.Lys1077Glu) c.3211A>G (p.Lys1071Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721065A>T | CA515261062 | SHANK3 | c.2833A>T (p.Lys945Ter) n.3417A>T c.1885A>T (p.Lys629Ter) c.1375A>T (p.Lys459Ter) c.*1831A>T (n.*1831A>T) c.3229A>T (p.Lys1077Ter) c.3211A>T (p.Lys1071Ter) | |
22 | g.50721066A>C | CA515261063 | SHANK3 | c.2834A>C (p.Lys945Thr) n.3418A>C c.1886A>C (p.Lys629Thr) c.1376A>C (p.Lys459Thr) c.*1832A>C (n.*1832A>C) c.3230A>C (p.Lys1077Thr) c.3212A>C (p.Lys1071Thr) | |
22 | g.50721066A>G | CA515261064 | SHANK3 | c.2834A>G (p.Lys945Arg) n.3418A>G c.1886A>G (p.Lys629Arg) c.1376A>G (p.Lys459Arg) c.*1832A>G (n.*1832A>G) c.3230A>G (p.Lys1077Arg) c.3212A>G (p.Lys1071Arg) | |
22 | g.50721066A>T | CA515261065 | SHANK3 | c.2834A>T (p.Lys945Met) n.3418A>T c.1886A>T (p.Lys629Met) c.1376A>T (p.Lys459Met) c.*1832A>T (n.*1832A>T) c.3230A>T (p.Lys1077Met) c.3212A>T (p.Lys1071Met) | |
22 | g.50721067G>A | CA515261068 | SHANK3 | c.2835G>A (p.Lys945=) n.3419G>A c.1887G>A (p.Lys629=) c.1377G>A (p.Lys459=) c.*1833G>A (n.*1833G>A) c.3231G>A (p.Lys1077=) c.3213G>A (p.Lys1071=) | gnomAD v4 |
22 | g.50721067G>C | CA515261067 | SHANK3 | c.2835G>C (p.Lys945Asn) n.3419G>C c.1887G>C (p.Lys629Asn) c.1377G>C (p.Lys459Asn) c.*1833G>C (n.*1833G>C) c.3231G>C (p.Lys1077Asn) c.3213G>C (p.Lys1071Asn) | |
22 | g.50721067G>T | CA515261066 | SHANK3 | c.2835G>T (p.Lys945Asn) n.3419G>T c.1887G>T (p.Lys629Asn) c.1377G>T (p.Lys459Asn) c.*1833G>T (n.*1833G>T) c.3231G>T (p.Lys1077Asn) c.3213G>T (p.Lys1071Asn) | gnomAD v4 |
22 | g.50721068C>A | CA515261069 | SHANK3 | c.2836C>A (p.Pro946Thr) n.3420C>A c.1888C>A (p.Pro630Thr) c.1378C>A (p.Pro460Thr) c.*1834C>A (n.*1834C>A) c.3232C>A (p.Pro1078Thr) c.3214C>A (p.Pro1072Thr) | gnomAD v4 |
22 | g.50721068C= | CA2411008010 | SHANK3 | c.2836C= (p.Pro946=) n.3420C= c.1888C= (p.Pro630=) c.1378C= (p.Pro460=) c.*1834C= (n.*1834C=) c.3232C= (p.Pro1078=) c.3214C= (p.Pro1072=) | |
22 | g.50721068C>G | CA515261070 | SHANK3 | c.2836C>G (p.Pro946Ala) n.3420C>G c.1888C>G (p.Pro630Ala) c.1378C>G (p.Pro460Ala) c.*1834C>G (n.*1834C>G) c.3232C>G (p.Pro1078Ala) c.3214C>G (p.Pro1072Ala) | |
22 | g.50721068C>T | CA10325987 | SHANK3 | c.2836C>T (p.Pro946Ser) n.3420C>T c.1888C>T (p.Pro630Ser) c.1378C>T (p.Pro460Ser) c.*1834C>T (n.*1834C>T) c.3232C>T (p.Pro1078Ser) c.3214C>T (p.Pro1072Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721069C>A | CA515261071 | SHANK3 | c.2837C>A (p.Pro946Gln) n.3421C>A c.1889C>A (p.Pro630Gln) c.1379C>A (p.Pro460Gln) c.*1835C>A (n.*1835C>A) c.3233C>A (p.Pro1078Gln) c.3215C>A (p.Pro1072Gln) | gnomAD v4 |
22 | g.50721069C>G | CA515261072 | SHANK3 | c.2837C>G (p.Pro946Arg) n.3421C>G c.1889C>G (p.Pro630Arg) c.1379C>G (p.Pro460Arg) c.*1835C>G (n.*1835C>G) c.3233C>G (p.Pro1078Arg) c.3215C>G (p.Pro1072Arg) | |
22 | g.50721069C>T | CA515261073 | SHANK3 | c.2837C>T (p.Pro946Leu) n.3421C>T c.1889C>T (p.Pro630Leu) c.1379C>T (p.Pro460Leu) c.*1835C>T (n.*1835C>T) c.3233C>T (p.Pro1078Leu) c.3215C>T (p.Pro1072Leu) | gnomAD v4 |
22 | g.50721070G>A | CA515261074 | SHANK3 | c.2838G>A (p.Pro946=) n.3422G>A c.1890G>A (p.Pro630=) c.1380G>A (p.Pro460=) c.*1836G>A (n.*1836G>A) c.3234G>A (p.Pro1078=) c.3216G>A (p.Pro1072=) | dbSNP |
22 | g.50721070G>C | CA515261075 | SHANK3 | c.2838G>C (p.Pro946=) n.3422G>C c.1890G>C (p.Pro630=) c.1380G>C (p.Pro460=) c.*1836G>C (n.*1836G>C) c.3234G>C (p.Pro1078=) c.3216G>C (p.Pro1072=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721070G= | CA2411008011 | SHANK3 | c.2838G= (p.Pro946=) n.3422G= c.1890G= (p.Pro630=) c.1380G= (p.Pro460=) c.*1836G= (n.*1836G=) c.3234G= (p.Pro1078=) c.3216G= (p.Pro1072=) | |
22 | g.50721070G>T | CA515261076 | SHANK3 | c.2838G>T (p.Pro946=) n.3422G>T c.1890G>T (p.Pro630=) c.1380G>T (p.Pro460=) c.*1836G>T (n.*1836G>T) c.3234G>T (p.Pro1078=) c.3216G>T (p.Pro1072=) | gnomAD v4 |
22 | g.50721071T>A | CA515261077 | SHANK3 | c.2839T>A (p.Leu947Met) n.3423T>A c.1891T>A (p.Leu631Met) c.1381T>A (p.Leu461Met) c.*1837T>A (n.*1837T>A) c.3235T>A (p.Leu1079Met) c.3217T>A (p.Leu1073Met) | |
22 | g.50721071T>C | CA515261078 | SHANK3 | c.2839T>C (p.Leu947=) n.3423T>C c.1891T>C (p.Leu631=) c.1381T>C (p.Leu461=) c.*1837T>C (n.*1837T>C) c.3235T>C (p.Leu1079=) c.3217T>C (p.Leu1073=) | dbSNP |
22 | g.50721071T>G | CA515261079 | SHANK3 | c.2839T>G (p.Leu947Val) n.3423T>G c.1891T>G (p.Leu631Val) c.1381T>G (p.Leu461Val) c.*1837T>G (n.*1837T>G) c.3235T>G (p.Leu1079Val) c.3217T>G (p.Leu1073Val) | |
22 | g.50721071T= | CA2411008012 | SHANK3 | c.2839T= (p.Leu947=) n.3423T= c.1891T= (p.Leu631=) c.1381T= (p.Leu461=) c.*1837T= (n.*1837T=) c.3235T= (p.Leu1079=) c.3217T= (p.Leu1073=) | |
22 | g.50721072T>A | CA515261080 | SHANK3 | c.2840T>A (p.Leu947Ter) n.3424T>A c.1892T>A (p.Leu631Ter) c.1382T>A (p.Leu461Ter) c.*1838T>A (n.*1838T>A) c.3236T>A (p.Leu1079Ter) c.3218T>A (p.Leu1073Ter) | |
22 | g.50721072T>C | CA515261082 | SHANK3 | c.2840T>C (p.Leu947Ser) n.3424T>C c.1892T>C (p.Leu631Ser) c.1382T>C (p.Leu461Ser) c.*1838T>C (n.*1838T>C) c.3236T>C (p.Leu1079Ser) c.3218T>C (p.Leu1073Ser) | |
22 | g.50721072T>G | CA515261081 | SHANK3 | c.2840T>G (p.Leu947Trp) n.3424T>G c.1892T>G (p.Leu631Trp) c.1382T>G (p.Leu461Trp) c.*1838T>G (n.*1838T>G) c.3236T>G (p.Leu1079Trp) c.3218T>G (p.Leu1073Trp) | |
22 | g.50721073G>A | CA515261083 | SHANK3 | c.2841G>A (p.Leu947=) n.3425G>A c.1893G>A (p.Leu631=) c.1383G>A (p.Leu461=) c.*1839G>A (n.*1839G>A) c.3237G>A (p.Leu1079=) c.3219G>A (p.Leu1073=) | |
22 | g.50721073G>C | CA515261084 | SHANK3 | c.2841G>C (p.Leu947Phe) n.3425G>C c.1893G>C (p.Leu631Phe) c.1383G>C (p.Leu461Phe) c.*1839G>C (n.*1839G>C) c.3237G>C (p.Leu1079Phe) c.3219G>C (p.Leu1073Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721073G= | CA2411008013 | SHANK3 | c.2841G= (p.Leu947=) n.3425G= c.1893G= (p.Leu631=) c.1383G= (p.Leu461=) c.*1839G= (n.*1839G=) c.3237G= (p.Leu1079=) c.3219G= (p.Leu1073=) | |
22 | g.50721073G>T | CA10325988 | SHANK3 | c.2841G>T (p.Leu947Phe) n.3425G>T c.1893G>T (p.Leu631Phe) c.1383G>T (p.Leu461Phe) c.*1839G>T (n.*1839G>T) c.3237G>T (p.Leu1079Phe) c.3219G>T (p.Leu1073Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721074G>A | CA515261085 | SHANK3 | c.2842G>A (p.Val948Ile) n.3426G>A c.1894G>A (p.Val632Ile) c.1384G>A (p.Val462Ile) c.*1840G>A (n.*1840G>A) c.3238G>A (p.Val1080Ile) c.3220G>A (p.Val1074Ile) | |
22 | g.50721074G>C | CA515261086 | SHANK3 | c.2842G>C (p.Val948Leu) n.3426G>C c.1894G>C (p.Val632Leu) c.1384G>C (p.Val462Leu) c.*1840G>C (n.*1840G>C) c.3238G>C (p.Val1080Leu) c.3220G>C (p.Val1074Leu) | |
22 | g.50721074G>T | CA515261087 | SHANK3 | c.2842G>T (p.Val948Phe) n.3426G>T c.1894G>T (p.Val632Phe) c.1384G>T (p.Val462Phe) c.*1840G>T (n.*1840G>T) c.3238G>T (p.Val1080Phe) c.3220G>T (p.Val1074Phe) | gnomAD v4 |
22 | g.50721075T>A | CA515261088 | SHANK3 | c.2843T>A (p.Val948Asp) n.3427T>A c.1895T>A (p.Val632Asp) c.1385T>A (p.Val462Asp) c.*1841T>A (n.*1841T>A) c.3239T>A (p.Val1080Asp) c.3221T>A (p.Val1074Asp) | |
22 | g.50721075T>C | CA515261089 | SHANK3 | c.2843T>C (p.Val948Ala) n.3427T>C c.1895T>C (p.Val632Ala) c.1385T>C (p.Val462Ala) c.*1841T>C (n.*1841T>C) c.3239T>C (p.Val1080Ala) c.3221T>C (p.Val1074Ala) | |
22 | g.50721075T>G | CA515261090 | SHANK3 | c.2843T>G (p.Val948Gly) n.3427T>G c.1895T>G (p.Val632Gly) c.1385T>G (p.Val462Gly) c.*1841T>G (n.*1841T>G) c.3239T>G (p.Val1080Gly) c.3221T>G (p.Val1074Gly) | |
22 | g.50721076C>A | CA515261091 | SHANK3 | c.2844C>A (p.Val948=) n.3428C>A c.1896C>A (p.Val632=) c.1386C>A (p.Val462=) c.*1842C>A (n.*1842C>A) c.3240C>A (p.Val1080=) c.3222C>A (p.Val1074=) | gnomAD v4 |
22 | g.50721076C= | CA2411008014 | SHANK3 | c.2844C= (p.Val948=) n.3428C= c.1896C= (p.Val632=) c.1386C= (p.Val462=) c.*1842C= (n.*1842C=) c.3240C= (p.Val1080=) c.3222C= (p.Val1074=) | |
22 | g.50721076C>G | CA515261092 | SHANK3 | c.2844C>G (p.Val948=) n.3428C>G c.1896C>G (p.Val632=) c.1386C>G (p.Val462=) c.*1842C>G (n.*1842C>G) c.3240C>G (p.Val1080=) c.3222C>G (p.Val1074=) | |
22 | g.50721076C>T | CA325578632 | SHANK3 | c.2844C>T (p.Val948=) n.3428C>T c.1896C>T (p.Val632=) c.1386C>T (p.Val462=) c.*1842C>T (n.*1842C>T) c.3240C>T (p.Val1080=) c.3222C>T (p.Val1074=) | dbSNP gnomAD v4 |
22 | g.50721077A= | CA2411008015 | SHANK3 | c.2845A= (p.Ser949=) n.3429A= c.1897A= (p.Ser633=) c.1387A= (p.Ser463=) c.*1843A= (n.*1843A=) c.3241A= (p.Ser1081=) c.3223A= (p.Ser1075=) | |
22 | g.50721077A>C | CA515261093 | SHANK3 | c.2845A>C (p.Ser949Arg) n.3429A>C c.1897A>C (p.Ser633Arg) c.1387A>C (p.Ser463Arg) c.*1843A>C (n.*1843A>C) c.3241A>C (p.Ser1081Arg) c.3223A>C (p.Ser1075Arg) | |
22 | g.50721077A>G | CA10325989 | SHANK3 | c.2845A>G (p.Ser949Gly) n.3429A>G c.1897A>G (p.Ser633Gly) c.1387A>G (p.Ser463Gly) c.*1843A>G (n.*1843A>G) c.3241A>G (p.Ser1081Gly) c.3223A>G (p.Ser1075Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721077A>T | CA515261094 | SHANK3 | c.2845A>T (p.Ser949Cys) n.3429A>T c.1897A>T (p.Ser633Cys) c.1387A>T (p.Ser463Cys) c.*1843A>T (n.*1843A>T) c.3241A>T (p.Ser1081Cys) c.3223A>T (p.Ser1075Cys) | |
22 | g.50721078G>A | CA515261095 | SHANK3 | c.2846G>A (p.Ser949Asn) n.3430G>A c.1898G>A (p.Ser633Asn) c.1388G>A (p.Ser463Asn) c.*1844G>A (n.*1844G>A) c.3242G>A (p.Ser1081Asn) c.3224G>A (p.Ser1075Asn) | |
22 | g.50721078G>C | CA515261097 | SHANK3 | c.2846G>C (p.Ser949Thr) n.3430G>C c.1898G>C (p.Ser633Thr) c.1388G>C (p.Ser463Thr) c.*1844G>C (n.*1844G>C) c.3242G>C (p.Ser1081Thr) c.3224G>C (p.Ser1075Thr) | |
22 | g.50721078G>T | CA515261096 | SHANK3 | c.2846G>T (p.Ser949Ile) n.3430G>T c.1898G>T (p.Ser633Ile) c.1388G>T (p.Ser463Ile) c.*1844G>T (n.*1844G>T) c.3242G>T (p.Ser1081Ile) c.3224G>T (p.Ser1075Ile) | gnomAD v4 |
22 | g.50721079C>A | CA515261098 | SHANK3 | c.2847C>A (p.Ser949Arg) n.3431C>A c.1899C>A (p.Ser633Arg) c.1389C>A (p.Ser463Arg) c.*1845C>A (n.*1845C>A) c.3243C>A (p.Ser1081Arg) c.3225C>A (p.Ser1075Arg) | gnomAD v4 |
22 | g.50721079C= | CA2411008016 | SHANK3 | c.2847C= (p.Ser949=) n.3431C= c.1899C= (p.Ser633=) c.1389C= (p.Ser463=) c.*1845C= (n.*1845C=) c.3243C= (p.Ser1081=) c.3225C= (p.Ser1075=) | |
22 | g.50721079C>G | CA515261099 | SHANK3 | c.2847C>G (p.Ser949Arg) n.3431C>G c.1899C>G (p.Ser633Arg) c.1389C>G (p.Ser463Arg) c.*1845C>G (n.*1845C>G) c.3243C>G (p.Ser1081Arg) c.3225C>G (p.Ser1075Arg) | gnomAD v4 |
22 | g.50721079C>T | CA515261100 | SHANK3 | c.2847C>T (p.Ser949=) n.3431C>T c.1899C>T (p.Ser633=) c.1389C>T (p.Ser463=) c.*1845C>T (n.*1845C>T) c.3243C>T (p.Ser1081=) c.3225C>T (p.Ser1075=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721080G>A | CA325578637 | SHANK3 | c.2848G>A (p.Gly950Ser) n.3432G>A c.1900G>A (p.Gly634Ser) c.1390G>A (p.Gly464Ser) c.*1846G>A (n.*1846G>A) c.3244G>A (p.Gly1082Ser) c.3226G>A (p.Gly1076Ser) | dbSNP gnomAD v4 |
22 | g.50721080G>C | CA515261101 | SHANK3 | c.2848G>C (p.Gly950Arg) n.3432G>C c.1900G>C (p.Gly634Arg) c.1390G>C (p.Gly464Arg) c.*1846G>C (n.*1846G>C) c.3244G>C (p.Gly1082Arg) c.3226G>C (p.Gly1076Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721080G= | CA2411008017 | SHANK3 | c.2848G= (p.Gly950=) n.3432G= c.1900G= (p.Gly634=) c.1390G= (p.Gly464=) c.*1846G= (n.*1846G=) c.3244G= (p.Gly1082=) c.3226G= (p.Gly1076=) | |
22 | g.50721080G>T | CA515261102 | SHANK3 | c.2848G>T (p.Gly950Cys) n.3432G>T c.1900G>T (p.Gly634Cys) c.1390G>T (p.Gly464Cys) c.*1846G>T (n.*1846G>T) c.3244G>T (p.Gly1082Cys) c.3226G>T (p.Gly1076Cys) | gnomAD v4 |
22 | g.50721081G>A | CA515261103 | SHANK3 | c.2849G>A (p.Gly950Asp) n.3433G>A c.1901G>A (p.Gly634Asp) c.1391G>A (p.Gly464Asp) c.*1847G>A (n.*1847G>A) c.3245G>A (p.Gly1082Asp) c.3227G>A (p.Gly1076Asp) | gnomAD v4 |
22 | g.50721081G>C | CA515261104 | SHANK3 | c.2849G>C (p.Gly950Ala) n.3433G>C c.1901G>C (p.Gly634Ala) c.1391G>C (p.Gly464Ala) c.*1847G>C (n.*1847G>C) c.3245G>C (p.Gly1082Ala) c.3227G>C (p.Gly1076Ala) | |
22 | g.50721081G>T | CA515261105 | SHANK3 | c.2849G>T (p.Gly950Val) n.3433G>T c.1901G>T (p.Gly634Val) c.1391G>T (p.Gly464Val) c.*1847G>T (n.*1847G>T) c.3245G>T (p.Gly1082Val) c.3227G>T (p.Gly1076Val) | gnomAD v4 |
22 | g.50721082C>A | CA515261107 | SHANK3 | c.2850C>A (p.Gly950=) n.3434C>A c.1902C>A (p.Gly634=) c.1392C>A (p.Gly464=) c.*1848C>A (n.*1848C>A) c.3246C>A (p.Gly1082=) c.3228C>A (p.Gly1076=) | gnomAD v4 |
22 | g.50721082C= | CA2411008018 | SHANK3 | c.2850C= (p.Gly950=) n.3434C= c.1902C= (p.Gly634=) c.1392C= (p.Gly464=) c.*1848C= (n.*1848C=) c.3246C= (p.Gly1082=) c.3228C= (p.Gly1076=) | |
22 | g.50721082C>G | CA515261108 | SHANK3 | c.2850C>G (p.Gly950=) n.3434C>G c.1902C>G (p.Gly634=) c.1392C>G (p.Gly464=) c.*1848C>G (n.*1848C>G) c.3246C>G (p.Gly1082=) c.3228C>G (p.Gly1076=) | |
22 | g.50721082C>T | CA515261106 | SHANK3 | c.2850C>T (p.Gly950=) n.3434C>T c.1902C>T (p.Gly634=) c.1392C>T (p.Gly464=) c.*1848C>T (n.*1848C>T) c.3246C>T (p.Gly1082=) c.3228C>T (p.Gly1076=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721083C>A | CA515261109 | SHANK3 | c.2851C>A (p.Pro951Thr) n.3435C>A c.1903C>A (p.Pro635Thr) c.1393C>A (p.Pro465Thr) c.*1849C>A (n.*1849C>A) c.3247C>A (p.Pro1083Thr) c.3229C>A (p.Pro1077Thr) | |
22 | g.50721083C= | CA2411008019 | SHANK3 | c.2851C= (p.Pro951=) n.3435C= c.1903C= (p.Pro635=) c.1393C= (p.Pro465=) c.*1849C= (n.*1849C=) c.3247C= (p.Pro1083=) c.3229C= (p.Pro1077=) | |
22 | g.50721083C>G | CA515261110 | SHANK3 | c.2851C>G (p.Pro951Ala) n.3435C>G c.1903C>G (p.Pro635Ala) c.1393C>G (p.Pro465Ala) c.*1849C>G (n.*1849C>G) c.3247C>G (p.Pro1083Ala) c.3229C>G (p.Pro1077Ala) | dbSNP |
22 | g.50721083C>T | CA515261111 | SHANK3 | c.2851C>T (p.Pro951Ser) n.3435C>T c.1903C>T (p.Pro635Ser) c.1393C>T (p.Pro465Ser) c.*1849C>T (n.*1849C>T) c.3247C>T (p.Pro1083Ser) c.3229C>T (p.Pro1077Ser) | gnomAD v4 |
22 | g.50721084C>A | CA515261112 | SHANK3 | c.2852C>A (p.Pro951Gln) n.3436C>A c.1904C>A (p.Pro635Gln) c.1394C>A (p.Pro465Gln) c.*1850C>A (n.*1850C>A) c.3248C>A (p.Pro1083Gln) c.3230C>A (p.Pro1077Gln) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721084C= | CA2411008020 | SHANK3 | c.2852C= (p.Pro951=) n.3436C= c.1904C= (p.Pro635=) c.1394C= (p.Pro465=) c.*1850C= (n.*1850C=) c.3248C= (p.Pro1083=) c.3230C= (p.Pro1077=) | |
22 | g.50721084C>G | CA515261113 | SHANK3 | c.2852C>G (p.Pro951Arg) n.3436C>G c.1904C>G (p.Pro635Arg) c.1394C>G (p.Pro465Arg) c.*1850C>G (n.*1850C>G) c.3248C>G (p.Pro1083Arg) c.3230C>G (p.Pro1077Arg) | dbSNP gnomAD v4 |
22 | g.50721084C>T | CA515261114 | SHANK3 | c.2852C>T (p.Pro951Leu) n.3436C>T c.1904C>T (p.Pro635Leu) c.1394C>T (p.Pro465Leu) c.*1850C>T (n.*1850C>T) c.3248C>T (p.Pro1083Leu) c.3230C>T (p.Pro1077Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721085G>A | CA10325990 | SHANK3 | c.2853G>A (p.Pro951=) n.3437G>A c.1905G>A (p.Pro635=) c.1395G>A (p.Pro465=) c.*1851G>A (n.*1851G>A) c.3249G>A (p.Pro1083=) c.3231G>A (p.Pro1077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721085G>C | CA515261115 | SHANK3 | c.2853G>C (p.Pro951=) n.3437G>C c.1905G>C (p.Pro635=) c.1395G>C (p.Pro465=) c.*1851G>C (n.*1851G>C) c.3249G>C (p.Pro1083=) c.3231G>C (p.Pro1077=) | gnomAD v4 |
22 | g.50721085G= | CA2411008021 | SHANK3 | c.2853G= (p.Pro951=) n.3437G= c.1905G= (p.Pro635=) c.1395G= (p.Pro465=) c.*1851G= (n.*1851G=) c.3249G= (p.Pro1083=) c.3231G= (p.Pro1077=) | |
22 | g.50721085G>T | CA515261116 | SHANK3 | c.2853G>T (p.Pro951=) n.3437G>T c.1905G>T (p.Pro635=) c.1395G>T (p.Pro465=) c.*1851G>T (n.*1851G>T) c.3249G>T (p.Pro1083=) c.3231G>T (p.Pro1077=) | gnomAD v4 |
22 | g.50721086A= | CA2411008023 | SHANK3 | c.2854A= (p.Ser952=) n.3438A= c.1906A= (p.Ser636=) c.1396A= (p.Ser466=) c.*1852A= (n.*1852A=) c.3250A= (p.Ser1084=) c.3232A= (p.Ser1078=) | |
22 | g.50721086A>C | CA515261117 | SHANK3 | c.2854A>C (p.Ser952Arg) n.3438A>C c.1906A>C (p.Ser636Arg) c.1396A>C (p.Ser466Arg) c.*1852A>C (n.*1852A>C) c.3250A>C (p.Ser1084Arg) c.3232A>C (p.Ser1078Arg) | |
22 | g.50721086A>G | CA515261118 | SHANK3 | c.2854A>G (p.Ser952Gly) n.3438A>G c.1906A>G (p.Ser636Gly) c.1396A>G (p.Ser466Gly) c.*1852A>G (n.*1852A>G) c.3250A>G (p.Ser1084Gly) c.3232A>G (p.Ser1078Gly) | |
22 | g.50721086A>T | CA515261119 | SHANK3 | c.2854A>T (p.Ser952Cys) n.3438A>T c.1906A>T (p.Ser636Cys) c.1396A>T (p.Ser466Cys) c.*1852A>T (n.*1852A>T) c.3250A>T (p.Ser1084Cys) c.3232A>T (p.Ser1078Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721086_50721091delinsAGCCTG | CA2411008022 | SHANK3 | c.2854_2859delinsAGCCTG (p.Ser952=) n.3438_3443delinsAGCCTG c.1906_1911delinsAGCCTG (p.Ser636=) c.1396_1401delinsAGCCTG (p.Ser466=) c.*1852_*1857delinsAGCCTG (n.*1852_*1857delinsAGCCTG) c.3250_3255delinsAGCCTG (p.Ser1084=) c.3232_3237delinsAGCCTG (p.Ser1078=) | |
22 | g.50721087G>A | CA515261122 | SHANK3 | c.2855G>A (p.Ser952Asn) n.3439G>A c.1907G>A (p.Ser636Asn) c.1397G>A (p.Ser466Asn) c.*1853G>A (n.*1853G>A) c.3251G>A (p.Ser1084Asn) c.3233G>A (p.Ser1078Asn) | dbSNP gnomAD v4 |
22 | g.50721087G>C | CA515261120 | SHANK3 | c.2855G>C (p.Ser952Thr) n.3439G>C c.1907G>C (p.Ser636Thr) c.1397G>C (p.Ser466Thr) c.*1853G>C (n.*1853G>C) c.3251G>C (p.Ser1084Thr) c.3233G>C (p.Ser1078Thr) | gnomAD v4 |
22 | g.50721087G= | CA2411008024 | SHANK3 | c.2855G= (p.Ser952=) n.3439G= c.1907G= (p.Ser636=) c.1397G= (p.Ser466=) c.*1853G= (n.*1853G=) c.3251G= (p.Ser1084=) c.3233G= (p.Ser1078=) | |
22 | g.50721087G>T | CA515261121 | SHANK3 | c.2855G>T (p.Ser952Ile) n.3439G>T c.1907G>T (p.Ser636Ile) c.1397G>T (p.Ser466Ile) c.*1853G>T (n.*1853G>T) c.3251G>T (p.Ser1084Ile) c.3233G>T (p.Ser1078Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721088_50721092del | CA16621140 | SHANK3 | c.2856_2860del (p.Ser952ArgfsTer?) n.3440_3444del c.1908_1912del (p.Ser636ArgfsTer?) c.1398_1402del (p.Ser466ArgfsTer?) c.*1854_*1858del (n.*1854_*1858del) c.3252_3256del (p.Ser1084ArgfsTer?) c.3234_3238del (p.Ser1078ArgfsTer?) | ClinVar dbSNP |
22 | g.50721088C>A | CA515261123 | SHANK3 | c.2856C>A (p.Ser952Arg) n.3440C>A c.1908C>A (p.Ser636Arg) c.1398C>A (p.Ser466Arg) c.*1854C>A (n.*1854C>A) c.3252C>A (p.Ser1084Arg) c.3234C>A (p.Ser1078Arg) | gnomAD v4 |
22 | g.50721088C>G | CA515261124 | SHANK3 | c.2856C>G (p.Ser952Arg) n.3440C>G c.1908C>G (p.Ser636Arg) c.1398C>G (p.Ser466Arg) c.*1854C>G (n.*1854C>G) c.3252C>G (p.Ser1084Arg) c.3234C>G (p.Ser1078Arg) | gnomAD v4 |
22 | g.50721088C>T | CA515261125 | SHANK3 | c.2856C>T (p.Ser952=) n.3440C>T c.1908C>T (p.Ser636=) c.1398C>T (p.Ser466=) c.*1854C>T (n.*1854C>T) c.3252C>T (p.Ser1084=) c.3234C>T (p.Ser1078=) | gnomAD v4 |
22 | g.50721089C>A | CA515261126 | SHANK3 | c.2857C>A (p.Leu953Met) n.3441C>A c.1909C>A (p.Leu637Met) c.1399C>A (p.Leu467Met) c.*1855C>A (n.*1855C>A) c.3253C>A (p.Leu1085Met) c.3235C>A (p.Leu1079Met) | gnomAD v4 |
22 | g.50721089C= | CA2411008025 | SHANK3 | c.2857C= (p.Leu953=) n.3441C= c.1909C= (p.Leu637=) c.1399C= (p.Leu467=) c.*1855C= (n.*1855C=) c.3253C= (p.Leu1085=) c.3235C= (p.Leu1079=) | |
22 | g.50721089C>G | CA515261127 | SHANK3 | c.2857C>G (p.Leu953Val) n.3441C>G c.1909C>G (p.Leu637Val) c.1399C>G (p.Leu467Val) c.*1855C>G (n.*1855C>G) c.3253C>G (p.Leu1085Val) c.3235C>G (p.Leu1079Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721089C>T | CA515261128 | SHANK3 | c.2857C>T (p.Leu953=) n.3441C>T c.1909C>T (p.Leu637=) c.1399C>T (p.Leu467=) c.*1855C>T (n.*1855C>T) c.3253C>T (p.Leu1085=) c.3235C>T (p.Leu1079=) | gnomAD v4 |
22 | g.50721090T>A | CA515261129 | SHANK3 | c.2858T>A (p.Leu953Gln) n.3442T>A c.1910T>A (p.Leu637Gln) c.1400T>A (p.Leu467Gln) c.*1856T>A (n.*1856T>A) c.3254T>A (p.Leu1085Gln) c.3236T>A (p.Leu1079Gln) | |
22 | g.50721090T>C | CA515261130 | SHANK3 | c.2858T>C (p.Leu953Pro) n.3442T>C c.1910T>C (p.Leu637Pro) c.1400T>C (p.Leu467Pro) c.*1856T>C (n.*1856T>C) c.3254T>C (p.Leu1085Pro) c.3236T>C (p.Leu1079Pro) | gnomAD v4 |
22 | g.50721090T>G | CA515261131 | SHANK3 | c.2858T>G (p.Leu953Arg) n.3442T>G c.1910T>G (p.Leu637Arg) c.1400T>G (p.Leu467Arg) c.*1856T>G (n.*1856T>G) c.3254T>G (p.Leu1085Arg) c.3236T>G (p.Leu1079Arg) | |
22 | g.50721091G>A | CA515261132 | SHANK3 | c.2859G>A (p.Leu953=) n.3443G>A c.1911G>A (p.Leu637=) c.1401G>A (p.Leu467=) c.*1857G>A (n.*1857G>A) c.3255G>A (p.Leu1085=) c.3237G>A (p.Leu1079=) | |
22 | g.50721091G>C | CA10325991 | SHANK3 | c.2859G>C (p.Leu953=) n.3443G>C c.1911G>C (p.Leu637=) c.1401G>C (p.Leu467=) c.*1857G>C (n.*1857G>C) c.3255G>C (p.Leu1085=) c.3237G>C (p.Leu1079=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721091G= | CA2411008026 | SHANK3 | c.2859G= (p.Leu953=) n.3443G= c.1911G= (p.Leu637=) c.1401G= (p.Leu467=) c.*1857G= (n.*1857G=) c.3255G= (p.Leu1085=) c.3237G= (p.Leu1079=) | |
22 | g.50721091G>T | CA515261133 | SHANK3 | c.2859G>T (p.Leu953=) n.3443G>T c.1911G>T (p.Leu637=) c.1401G>T (p.Leu467=) c.*1857G>T (n.*1857G>T) c.3255G>T (p.Leu1085=) c.3237G>T (p.Leu1079=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721094del | CA2657583425 | SHANK3 | c.2862del (p.Ser956ArgfsTer?) n.3446del c.1914del (p.Ser640ArgfsTer?) c.1404del (p.Ser470ArgfsTer?) c.*1860del (n.*1860del) c.3258del (p.Ser1088ArgfsTer?) c.3240del (p.Ser1082ArgfsTer?) | gnomAD v4 |
22 | g.50721092G>A | CA515261136 | SHANK3 | c.2860G>A (p.Gly954Arg) n.3444G>A c.1912G>A (p.Gly638Arg) c.1402G>A (p.Gly468Arg) c.*1858G>A (n.*1858G>A) c.3256G>A (p.Gly1086Arg) c.3238G>A (p.Gly1080Arg) | |
22 | g.50721092G>C | CA515261135 | SHANK3 | c.2860G>C (p.Gly954Arg) n.3444G>C c.1912G>C (p.Gly638Arg) c.1402G>C (p.Gly468Arg) c.*1858G>C (n.*1858G>C) c.3256G>C (p.Gly1086Arg) c.3238G>C (p.Gly1080Arg) | gnomAD v4 |
22 | g.50721092G>T | CA515261134 | SHANK3 | c.2860G>T (p.Gly954Trp) n.3444G>T c.1912G>T (p.Gly638Trp) c.1402G>T (p.Gly468Trp) c.*1858G>T (n.*1858G>T) c.3256G>T (p.Gly1086Trp) c.3238G>T (p.Gly1080Trp) | gnomAD v4 |
22 | g.50721093G>A | CA515261137 | SHANK3 | c.2861G>A (p.Gly954Glu) n.3445G>A c.1913G>A (p.Gly638Glu) c.1403G>A (p.Gly468Glu) c.*1859G>A (n.*1859G>A) c.3257G>A (p.Gly1086Glu) c.3239G>A (p.Gly1080Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721093G>C | CA515261139 | SHANK3 | c.2861G>C (p.Gly954Ala) n.3445G>C c.1913G>C (p.Gly638Ala) c.1403G>C (p.Gly468Ala) c.*1859G>C (n.*1859G>C) c.3257G>C (p.Gly1086Ala) c.3239G>C (p.Gly1080Ala) | |
22 | g.50721093G= | CA2411008027 | SHANK3 | c.2861G= (p.Gly954=) n.3445G= c.1913G= (p.Gly638=) c.1403G= (p.Gly468=) c.*1859G= (n.*1859G=) c.3257G= (p.Gly1086=) c.3239G= (p.Gly1080=) | |
22 | g.50721093G>T | CA515261138 | SHANK3 | c.2861G>T (p.Gly954Val) n.3445G>T c.1913G>T (p.Gly638Val) c.1403G>T (p.Gly468Val) c.*1859G>T (n.*1859G>T) c.3257G>T (p.Gly1086Val) c.3239G>T (p.Gly1080Val) | gnomAD v4 |
22 | g.50721094G>A | CA10325992 | SHANK3 | c.2862G>A (p.Gly954=) n.3446G>A c.1914G>A (p.Gly638=) c.1404G>A (p.Gly468=) c.*1860G>A (n.*1860G>A) c.3258G>A (p.Gly1086=) c.3240G>A (p.Gly1080=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721094G>C | CA515261141 | SHANK3 | c.2862G>C (p.Gly954=) n.3446G>C c.1914G>C (p.Gly638=) c.1404G>C (p.Gly468=) c.*1860G>C (n.*1860G>C) c.3258G>C (p.Gly1086=) c.3240G>C (p.Gly1080=) | |
22 | g.50721094G= | CA2411008028 | SHANK3 | c.2862G= (p.Gly954=) n.3446G= c.1914G= (p.Gly638=) c.1404G= (p.Gly468=) c.*1860G= (n.*1860G=) c.3258G= (p.Gly1086=) c.3240G= (p.Gly1080=) | |
22 | g.50721094G>T | CA515261140 | SHANK3 | c.2862G>T (p.Gly954=) n.3446G>T c.1914G>T (p.Gly638=) c.1404G>T (p.Gly468=) c.*1860G>T (n.*1860G>T) c.3258G>T (p.Gly1086=) c.3240G>T (p.Gly1080=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721095C>A | CA515261142 | SHANK3 | c.2863C>A (p.Pro955Thr) n.3447C>A c.1915C>A (p.Pro639Thr) c.1405C>A (p.Pro469Thr) c.*1861C>A (n.*1861C>A) c.3259C>A (p.Pro1087Thr) c.3241C>A (p.Pro1081Thr) | gnomAD v4 |
22 | g.50721095C= | CA2411008029 | SHANK3 | c.2863C= (p.Pro955=) n.3447C= c.1915C= (p.Pro639=) c.1405C= (p.Pro469=) c.*1861C= (n.*1861C=) c.3259C= (p.Pro1087=) c.3241C= (p.Pro1081=) | |
22 | g.50721095C>G | CA515261143 | SHANK3 | c.2863C>G (p.Pro955Ala) n.3447C>G c.1915C>G (p.Pro639Ala) c.1405C>G (p.Pro469Ala) c.*1861C>G (n.*1861C>G) c.3259C>G (p.Pro1087Ala) c.3241C>G (p.Pro1081Ala) | |
22 | g.50721095C>T | CA10325993 | SHANK3 | c.2863C>T (p.Pro955Ser) n.3447C>T c.1915C>T (p.Pro639Ser) c.1405C>T (p.Pro469Ser) c.*1861C>T (n.*1861C>T) c.3259C>T (p.Pro1087Ser) c.3241C>T (p.Pro1081Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721097del | CA2657583426 | SHANK3 | c.2865del (p.Ser956ArgfsTer?) n.3449del c.1917del (p.Ser640ArgfsTer?) c.1407del (p.Ser470ArgfsTer?) c.*1863del (n.*1863del) c.3261del (p.Ser1088ArgfsTer?) c.3243del (p.Ser1082ArgfsTer?) | gnomAD v4 |
22 | g.50721096C>A | CA515261144 | SHANK3 | c.2864C>A (p.Pro955His) n.3448C>A c.1916C>A (p.Pro639His) c.1406C>A (p.Pro469His) c.*1862C>A (n.*1862C>A) c.3260C>A (p.Pro1087His) c.3242C>A (p.Pro1081His) | gnomAD v4 |
22 | g.50721096C= | CA2411008030 | SHANK3 | c.2864C= (p.Pro955=) n.3448C= c.1916C= (p.Pro639=) c.1406C= (p.Pro469=) c.*1862C= (n.*1862C=) c.3260C= (p.Pro1087=) c.3242C= (p.Pro1081=) | |
22 | g.50721096C>G | CA515261145 | SHANK3 | c.2864C>G (p.Pro955Arg) n.3448C>G c.1916C>G (p.Pro639Arg) c.1406C>G (p.Pro469Arg) c.*1862C>G (n.*1862C>G) c.3260C>G (p.Pro1087Arg) c.3242C>G (p.Pro1081Arg) | |
22 | g.50721096C>T | CA10325994 | SHANK3 | c.2864C>T (p.Pro955Leu) n.3448C>T c.1916C>T (p.Pro639Leu) c.1406C>T (p.Pro469Leu) c.*1862C>T (n.*1862C>T) c.3260C>T (p.Pro1087Leu) c.3242C>T (p.Pro1081Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721097C>A | CA515261146 | SHANK3 | c.2865C>A (p.Pro955=) n.3449C>A c.1917C>A (p.Pro639=) c.1407C>A (p.Pro469=) c.*1863C>A (n.*1863C>A) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=) | COSMIC COSMIC COSMIC |
22 | g.50721097C= | CA2411008031 | SHANK3 | c.2865C= (p.Pro955=) n.3449C= c.1917C= (p.Pro639=) c.1407C= (p.Pro469=) c.*1863C= (n.*1863C=) c.3261C= (p.Pro1087=) c.3243C= (p.Pro1081=) | |
22 | g.50721097C>G | CA515261147 | SHANK3 | c.2865C>G (p.Pro955=) n.3449C>G c.1917C>G (p.Pro639=) c.1407C>G (p.Pro469=) c.*1863C>G (n.*1863C>G) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721097C>T | CA515261148 | SHANK3 | c.2865C>T (p.Pro955=) n.3449C>T c.1917C>T (p.Pro639=) c.1407C>T (p.Pro469=) c.*1863C>T (n.*1863C>T) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721098T>A | CA515261149 | SHANK3 | c.2866T>A (p.Ser956Thr) n.3450T>A c.1918T>A (p.Ser640Thr) c.1408T>A (p.Ser470Thr) c.*1864T>A (n.*1864T>A) c.3262T>A (p.Ser1088Thr) c.3244T>A (p.Ser1082Thr) | |
22 | g.50721098T>C | CA515261150 | SHANK3 | c.2866T>C (p.Ser956Pro) n.3450T>C c.1918T>C (p.Ser640Pro) c.1408T>C (p.Ser470Pro) c.*1864T>C (n.*1864T>C) c.3262T>C (p.Ser1088Pro) c.3244T>C (p.Ser1082Pro) | |
22 | g.50721098T>G | CA515261151 | SHANK3 | c.2866T>G (p.Ser956Ala) n.3450T>G c.1918T>G (p.Ser640Ala) c.1408T>G (p.Ser470Ala) c.*1864T>G (n.*1864T>G) c.3262T>G (p.Ser1088Ala) c.3244T>G (p.Ser1082Ala) | |
22 | g.50721099C>A | CA515261152 | SHANK3 | c.2867C>A (p.Ser956Ter) n.3451C>A c.1919C>A (p.Ser640Ter) c.1409C>A (p.Ser470Ter) c.*1865C>A (n.*1865C>A) c.3263C>A (p.Ser1088Ter) c.3245C>A (p.Ser1082Ter) | |
22 | g.50721099C= | CA2411008032 | SHANK3 | c.2867C= (p.Ser956=) n.3451C= c.1919C= (p.Ser640=) c.1409C= (p.Ser470=) c.*1865C= (n.*1865C=) c.3263C= (p.Ser1088=) c.3245C= (p.Ser1082=) | |
22 | g.50721099C>G | CA515261153 | SHANK3 | c.2867C>G (p.Ser956Trp) n.3451C>G c.1919C>G (p.Ser640Trp) c.1409C>G (p.Ser470Trp) c.*1865C>G (n.*1865C>G) c.3263C>G (p.Ser1088Trp) c.3245C>G (p.Ser1082Trp) | gnomAD v4 |
22 | g.50721099C>T | CA10325995 | SHANK3 | c.2867C>T (p.Ser956Leu) n.3451C>T c.1919C>T (p.Ser640Leu) c.1409C>T (p.Ser470Leu) c.*1865C>T (n.*1865C>T) c.3263C>T (p.Ser1088Leu) c.3245C>T (p.Ser1082Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721100G>A | CA515261154 | SHANK3 | c.2868G>A (p.Ser956=) n.3452G>A c.1920G>A (p.Ser640=) c.1410G>A (p.Ser470=) c.*1866G>A (n.*1866G>A) c.3264G>A (p.Ser1088=) c.3246G>A (p.Ser1082=) | gnomAD v4 |
22 | g.50721100G>C | CA515261155 | SHANK3 | c.2868G>C (p.Ser956=) n.3452G>C c.1920G>C (p.Ser640=) c.1410G>C (p.Ser470=) c.*1866G>C (n.*1866G>C) c.3264G>C (p.Ser1088=) c.3246G>C (p.Ser1082=) | |
22 | g.50721100G>T | CA515261156 | SHANK3 | c.2868G>T (p.Ser956=) n.3452G>T c.1920G>T (p.Ser640=) c.1410G>T (p.Ser470=) c.*1866G>T (n.*1866G>T) c.3264G>T (p.Ser1088=) c.3246G>T (p.Ser1082=) | gnomAD v4 |
22 | g.50721101G>A | CA515261157 | SHANK3 | c.2869G>A (p.Gly957Ser) n.3453G>A c.1921G>A (p.Gly641Ser) c.1411G>A (p.Gly471Ser) c.*1867G>A (n.*1867G>A) c.3265G>A (p.Gly1089Ser) c.3247G>A (p.Gly1083Ser) | |
22 | g.50721101G>C | CA515261158 | SHANK3 | c.2869G>C (p.Gly957Arg) n.3453G>C c.1921G>C (p.Gly641Arg) c.1411G>C (p.Gly471Arg) c.*1867G>C (n.*1867G>C) c.3265G>C (p.Gly1089Arg) c.3247G>C (p.Gly1083Arg) | |
22 | g.50721101G= | CA2411008033 | SHANK3 | c.2869G= (p.Gly957=) n.3453G= c.1921G= (p.Gly641=) c.1411G= (p.Gly471=) c.*1867G= (n.*1867G=) c.3265G= (p.Gly1089=) c.3247G= (p.Gly1083=) | |
22 | g.50721101G>T | CA515261159 | SHANK3 | c.2869G>T (p.Gly957Cys) n.3453G>T c.1921G>T (p.Gly641Cys) c.1411G>T (p.Gly471Cys) c.*1867G>T (n.*1867G>T) c.3265G>T (p.Gly1089Cys) c.3247G>T (p.Gly1083Cys) | dbSNP |
22 | g.50721102G>A | CA515261160 | SHANK3 | c.2870G>A (p.Gly957Asp) n.3454G>A c.1922G>A (p.Gly641Asp) c.1412G>A (p.Gly471Asp) c.*1868G>A (n.*1868G>A) c.3266G>A (p.Gly1089Asp) c.3248G>A (p.Gly1083Asp) | |
22 | g.50721102G>C | CA515261161 | SHANK3 | c.2870G>C (p.Gly957Ala) n.3454G>C c.1922G>C (p.Gly641Ala) c.1412G>C (p.Gly471Ala) c.*1868G>C (n.*1868G>C) c.3266G>C (p.Gly1089Ala) c.3248G>C (p.Gly1083Ala) | gnomAD v4 |
22 | g.50721102G>T | CA515261162 | SHANK3 | c.2870G>T (p.Gly957Val) n.3454G>T c.1922G>T (p.Gly641Val) c.1412G>T (p.Gly471Val) c.*1868G>T (n.*1868G>T) c.3266G>T (p.Gly1089Val) c.3248G>T (p.Gly1083Val) | |
22 | g.50721103T>A | CA515261164 | SHANK3 | c.2871T>A (p.Gly957=) n.3455T>A c.1923T>A (p.Gly641=) c.1413T>A (p.Gly471=) c.*1869T>A (n.*1869T>A) c.3267T>A (p.Gly1089=) c.3249T>A (p.Gly1083=) | |
22 | g.50721103T>C | CA515261165 | SHANK3 | c.2871T>C (p.Gly957=) n.3455T>C c.1923T>C (p.Gly641=) c.1413T>C (p.Gly471=) c.*1869T>C (n.*1869T>C) c.3267T>C (p.Gly1089=) c.3249T>C (p.Gly1083=) | |
22 | g.50721103T>G | CA515261163 | SHANK3 | c.2871T>G (p.Gly957=) n.3455T>G c.1923T>G (p.Gly641=) c.1413T>G (p.Gly471=) c.*1869T>G (n.*1869T>G) c.3267T>G (p.Gly1089=) c.3249T>G (p.Gly1083=) | |
22 | g.50721104T>A | CA515261166 | SHANK3 | c.2872T>A (p.Ser958Thr) n.3456T>A c.1924T>A (p.Ser642Thr) c.1414T>A (p.Ser472Thr) c.*1870T>A (n.*1870T>A) c.3268T>A (p.Ser1090Thr) c.3250T>A (p.Ser1084Thr) | |
22 | g.50721104T>C | CA515261167 | SHANK3 | c.2872T>C (p.Ser958Pro) n.3456T>C c.1924T>C (p.Ser642Pro) c.1414T>C (p.Ser472Pro) c.*1870T>C (n.*1870T>C) c.3268T>C (p.Ser1090Pro) c.3250T>C (p.Ser1084Pro) | |
22 | g.50721104T>G | CA515261168 | SHANK3 | c.2872T>G (p.Ser958Ala) n.3456T>G c.1924T>G (p.Ser642Ala) c.1414T>G (p.Ser472Ala) c.*1870T>G (n.*1870T>G) c.3268T>G (p.Ser1090Ala) c.3250T>G (p.Ser1084Ala) | gnomAD v4 |
22 | g.50721105C>A | CA515261169 | SHANK3 | c.2873C>A (p.Ser958Tyr) n.3457C>A c.1925C>A (p.Ser642Tyr) c.1415C>A (p.Ser472Tyr) c.*1871C>A (n.*1871C>A) c.3269C>A (p.Ser1090Tyr) c.3251C>A (p.Ser1084Tyr) | |
22 | g.50721105C>G | CA515261170 | SHANK3 | c.2873C>G (p.Ser958Cys) n.3457C>G c.1925C>G (p.Ser642Cys) c.1415C>G (p.Ser472Cys) c.*1871C>G (n.*1871C>G) c.3269C>G (p.Ser1090Cys) c.3251C>G (p.Ser1084Cys) | |
22 | g.50721105C>T | CA515261171 | SHANK3 | c.2873C>T (p.Ser958Phe) n.3457C>T c.1925C>T (p.Ser642Phe) c.1415C>T (p.Ser472Phe) c.*1871C>T (n.*1871C>T) c.3269C>T (p.Ser1090Phe) c.3251C>T (p.Ser1084Phe) | |
22 | g.50721106C>A | CA515261172 | SHANK3 | c.2874C>A (p.Ser958=) n.3458C>A c.1926C>A (p.Ser642=) c.1416C>A (p.Ser472=) c.*1872C>A (n.*1872C>A) c.3270C>A (p.Ser1090=) c.3252C>A (p.Ser1084=) | |
22 | g.50721106C= | CA2411008034 | SHANK3 | c.2874C= (p.Ser958=) n.3458C= c.1926C= (p.Ser642=) c.1416C= (p.Ser472=) c.*1872C= (n.*1872C=) c.3270C= (p.Ser1090=) c.3252C= (p.Ser1084=) | |
22 | g.50721106C>G | CA515261173 | SHANK3 | c.2874C>G (p.Ser958=) n.3458C>G c.1926C>G (p.Ser642=) c.1416C>G (p.Ser472=) c.*1872C>G (n.*1872C>G) c.3270C>G (p.Ser1090=) c.3252C>G (p.Ser1084=) | |
22 | g.50721106C>T | CA325578657 | SHANK3 | c.2874C>T (p.Ser958=) n.3458C>T c.1926C>T (p.Ser642=) c.1416C>T (p.Ser472=) c.*1872C>T (n.*1872C>T) c.3270C>T (p.Ser1090=) c.3252C>T (p.Ser1084=) | dbSNP gnomAD v4 |
22 | g.50721107A>C | CA515261174 | SHANK3 | c.2875A>C (p.Thr959Pro) n.3459A>C c.1927A>C (p.Thr643Pro) c.1417A>C (p.Thr473Pro) c.*1873A>C (n.*1873A>C) c.3271A>C (p.Thr1091Pro) c.3253A>C (p.Thr1085Pro) | |
22 | g.50721107A>G | CA515261175 | SHANK3 | c.2875A>G (p.Thr959Ala) n.3459A>G c.1927A>G (p.Thr643Ala) c.1417A>G (p.Thr473Ala) c.*1873A>G (n.*1873A>G) c.3271A>G (p.Thr1091Ala) c.3253A>G (p.Thr1085Ala) | |
22 | g.50721107A>T | CA515261176 | SHANK3 | c.2875A>T (p.Thr959Ser) n.3459A>T c.1927A>T (p.Thr643Ser) c.1417A>T (p.Thr473Ser) c.*1873A>T (n.*1873A>T) c.3271A>T (p.Thr1091Ser) c.3253A>T (p.Thr1085Ser) | |
22 | g.50721110_50721143del | CA2580099981 | SHANK3 | c.2878_2911del (p.Phe960ProfsTer?) n.3462_3495del c.1930_1963del (p.Phe644ProfsTer?) c.1420_1453del (p.Phe474ProfsTer?) c.*1876_*1909del (n.*1876_*1909del) c.3274_3307del (p.Phe1092ProfsTer?) c.3256_3289del (p.Phe1086ProfsTer?) | ClinVar |
22 | g.50721108C>A | CA515261179 | SHANK3 | c.2876C>A (p.Thr959Asn) n.3460C>A c.1928C>A (p.Thr643Asn) c.1418C>A (p.Thr473Asn) c.*1874C>A (n.*1874C>A) c.3272C>A (p.Thr1091Asn) c.3254C>A (p.Thr1085Asn) | |
22 | g.50721108C= | CA2411008035 | SHANK3 | c.2876C= (p.Thr959=) n.3460C= c.1928C= (p.Thr643=) c.1418C= (p.Thr473=) c.*1874C= (n.*1874C=) c.3272C= (p.Thr1091=) c.3254C= (p.Thr1085=) | |
22 | g.50721108C>G | CA515261177 | SHANK3 | c.2876C>G (p.Thr959Ser) n.3460C>G c.1928C>G (p.Thr643Ser) c.1418C>G (p.Thr473Ser) c.*1874C>G (n.*1874C>G) c.3272C>G (p.Thr1091Ser) c.3254C>G (p.Thr1085Ser) | |
22 | g.50721108C>T | CA515261178 | SHANK3 | c.2876C>T (p.Thr959Ile) n.3460C>T c.1928C>T (p.Thr643Ile) c.1418C>T (p.Thr473Ile) c.*1874C>T (n.*1874C>T) c.3272C>T (p.Thr1091Ile) c.3254C>T (p.Thr1085Ile) | dbSNP gnomAD v4 |
22 | g.50721109C>A | CA515261180 | SHANK3 | c.2877C>A (p.Thr959=) n.3461C>A c.1929C>A (p.Thr643=) c.1419C>A (p.Thr473=) c.*1875C>A (n.*1875C>A) c.3273C>A (p.Thr1091=) c.3255C>A (p.Thr1085=) | gnomAD v4 |
22 | g.50721109C= | CA2411008036 | SHANK3 | c.2877C= (p.Thr959=) n.3461C= c.1929C= (p.Thr643=) c.1419C= (p.Thr473=) c.*1875C= (n.*1875C=) c.3273C= (p.Thr1091=) c.3255C= (p.Thr1085=) | |
22 | g.50721109C>G | CA515261181 | SHANK3 | c.2877C>G (p.Thr959=) n.3461C>G c.1929C>G (p.Thr643=) c.1419C>G (p.Thr473=) c.*1875C>G (n.*1875C>G) c.3273C>G (p.Thr1091=) c.3255C>G (p.Thr1085=) | |
22 | g.50721109C>T | CA10325996 | SHANK3 | c.2877C>T (p.Thr959=) n.3461C>T c.1929C>T (p.Thr643=) c.1419C>T (p.Thr473=) c.*1875C>T (n.*1875C>T) c.3273C>T (p.Thr1091=) c.3255C>T (p.Thr1085=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721110T>A | CA515261182 | SHANK3 | c.2878T>A (p.Phe960Ile) n.3462T>A c.1930T>A (p.Phe644Ile) c.1420T>A (p.Phe474Ile) c.*1876T>A (n.*1876T>A) c.3274T>A (p.Phe1092Ile) c.3256T>A (p.Phe1086Ile) | |
22 | g.50721110T>C | CA515261183 | SHANK3 | c.2878T>C (p.Phe960Leu) n.3462T>C c.1930T>C (p.Phe644Leu) c.1420T>C (p.Phe474Leu) c.*1876T>C (n.*1876T>C) c.3274T>C (p.Phe1092Leu) c.3256T>C (p.Phe1086Leu) | gnomAD v4 |
22 | g.50721110T>G | CA515261184 | SHANK3 | c.2878T>G (p.Phe960Val) n.3462T>G c.1930T>G (p.Phe644Val) c.1420T>G (p.Phe474Val) c.*1876T>G (n.*1876T>G) c.3274T>G (p.Phe1092Val) c.3256T>G (p.Phe1086Val) | |
22 | g.50721111del | CA2841608986 | SHANK3 | c.2879del (p.Phe960SerfsTer?) n.3463del c.1931del (p.Phe644SerfsTer?) c.1421del (p.Phe474SerfsTer?) c.*1877del (n.*1877del) c.3275del (p.Phe1092SerfsTer?) c.3257del (p.Phe1086SerfsTer?) | |
22 | g.50721111T>A | CA515261185 | SHANK3 | c.2879T>A (p.Phe960Tyr) n.3463T>A c.1931T>A (p.Phe644Tyr) c.1421T>A (p.Phe474Tyr) c.*1877T>A (n.*1877T>A) c.3275T>A (p.Phe1092Tyr) c.3257T>A (p.Phe1086Tyr) | |
22 | g.50721111T>C | CA515261186 | SHANK3 | c.2879T>C (p.Phe960Ser) n.3463T>C c.1931T>C (p.Phe644Ser) c.1421T>C (p.Phe474Ser) c.*1877T>C (n.*1877T>C) c.3275T>C (p.Phe1092Ser) c.3257T>C (p.Phe1086Ser) | |
22 | g.50721111T>G | CA515261187 | SHANK3 | c.2879T>G (p.Phe960Cys) n.3463T>G c.1931T>G (p.Phe644Cys) c.1421T>G (p.Phe474Cys) c.*1877T>G (n.*1877T>G) c.3275T>G (p.Phe1092Cys) c.3257T>G (p.Phe1086Cys) | |
22 | g.50721111_50721115delinsTCATC | CA2411008037 | SHANK3 | c.2879_2883delinsTCATC (p.Phe960=) n.3463_3467delinsTCATC c.1931_1935delinsTCATC (p.Phe644=) c.1421_1425delinsTCATC (p.Phe474=) c.*1877_*1881delinsTCATC (n.*1877_*1881delinsTCATC) c.3275_3279delinsTCATC (p.Phe1092=) c.3257_3261delinsTCATC (p.Phe1086=) | |
22 | g.50721112C>A | CA515261188 | SHANK3 | c.2880C>A (p.Phe960Leu) n.3464C>A c.1932C>A (p.Phe644Leu) c.1422C>A (p.Phe474Leu) c.*1878C>A (n.*1878C>A) c.3276C>A (p.Phe1092Leu) c.3258C>A (p.Phe1086Leu) | |
22 | g.50721112C= | CA2411008038 | SHANK3 | c.2880C= (p.Phe960=) n.3464C= c.1932C= (p.Phe644=) c.1422C= (p.Phe474=) c.*1878C= (n.*1878C=) c.3276C= (p.Phe1092=) c.3258C= (p.Phe1086=) | |
22 | g.50721112C>G | CA515261189 | SHANK3 | c.2880C>G (p.Phe960Leu) n.3464C>G c.1932C>G (p.Phe644Leu) c.1422C>G (p.Phe474Leu) c.*1878C>G (n.*1878C>G) c.3276C>G (p.Phe1092Leu) c.3258C>G (p.Phe1086Leu) | |
22 | g.50721112C>T | CA515261190 | SHANK3 | c.2880C>T (p.Phe960=) n.3464C>T c.1932C>T (p.Phe644=) c.1422C>T (p.Phe474=) c.*1878C>T (n.*1878C>T) c.3276C>T (p.Phe1092=) c.3258C>T (p.Phe1086=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721114_50721117del | CA640359041 | SHANK3 | c.2882_2885del (p.Ile961ThrfsTer?) n.3466_3469del c.1934_1937del (p.Ile645ThrfsTer?) c.1424_1427del (p.Ile475ThrfsTer?) c.*1880_*1883del (n.*1880_*1883del) c.3278_3281del (p.Ile1093ThrfsTer?) c.3260_3263del (p.Ile1087ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721113A>C | CA515261193 | SHANK3 | c.2881A>C (p.Ile961Leu) n.3465A>C c.1933A>C (p.Ile645Leu) c.1423A>C (p.Ile475Leu) c.*1879A>C (n.*1879A>C) c.3277A>C (p.Ile1093Leu) c.3259A>C (p.Ile1087Leu) | |
22 | g.50721113A>G | CA515261192 | SHANK3 | c.2881A>G (p.Ile961Val) n.3465A>G c.1933A>G (p.Ile645Val) c.1423A>G (p.Ile475Val) c.*1879A>G (n.*1879A>G) c.3277A>G (p.Ile1093Val) c.3259A>G (p.Ile1087Val) | |
22 | g.50721113A>T | CA515261191 | SHANK3 | c.2881A>T (p.Ile961Phe) n.3465A>T c.1933A>T (p.Ile645Phe) c.1423A>T (p.Ile475Phe) c.*1879A>T (n.*1879A>T) c.3277A>T (p.Ile1093Phe) c.3259A>T (p.Ile1087Phe) | |
22 | g.50721114T>A | CA515261194 | SHANK3 | c.2882T>A (p.Ile961Asn) n.3466T>A c.1934T>A (p.Ile645Asn) c.1424T>A (p.Ile475Asn) c.*1880T>A (n.*1880T>A) c.3278T>A (p.Ile1093Asn) c.3260T>A (p.Ile1087Asn) | |
22 | g.50721114T>C | CA10325997 | SHANK3 | c.2882T>C (p.Ile961Thr) n.3466T>C c.1934T>C (p.Ile645Thr) c.1424T>C (p.Ile475Thr) c.*1880T>C (n.*1880T>C) c.3278T>C (p.Ile1093Thr) c.3260T>C (p.Ile1087Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721114T>G | CA515261195 | SHANK3 | c.2882T>G (p.Ile961Ser) n.3466T>G c.1934T>G (p.Ile645Ser) c.1424T>G (p.Ile475Ser) c.*1880T>G (n.*1880T>G) c.3278T>G (p.Ile1093Ser) c.3260T>G (p.Ile1087Ser) | |
22 | g.50721114T= | CA2411008039 | SHANK3 | c.2882T= (p.Ile961=) n.3466T= c.1934T= (p.Ile645=) c.1424T= (p.Ile475=) c.*1880T= (n.*1880T=) c.3278T= (p.Ile1093=) c.3260T= (p.Ile1087=) | |
22 | g.50721115C>A | CA10325998 | SHANK3 | c.2883C>A (p.Ile961=) n.3467C>A c.1935C>A (p.Ile645=) c.1425C>A (p.Ile475=) c.*1881C>A (n.*1881C>A) c.3279C>A (p.Ile1093=) c.3261C>A (p.Ile1087=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721115C= | CA2411008040 | SHANK3 | c.2883C= (p.Ile961=) n.3467C= c.1935C= (p.Ile645=) c.1425C= (p.Ile475=) c.*1881C= (n.*1881C=) c.3279C= (p.Ile1093=) c.3261C= (p.Ile1087=) | |
22 | g.50721115C>G | CA515261196 | SHANK3 | c.2883C>G (p.Ile961Met) n.3467C>G c.1935C>G (p.Ile645Met) c.1425C>G (p.Ile475Met) c.*1881C>G (n.*1881C>G) c.3279C>G (p.Ile1093Met) c.3261C>G (p.Ile1087Met) | gnomAD v4 |
22 | g.50721115C>T | CA515261197 | SHANK3 | c.2883C>T (p.Ile961=) n.3467C>T c.1935C>T (p.Ile645=) c.1425C>T (p.Ile475=) c.*1881C>T (n.*1881C>T) c.3279C>T (p.Ile1093=) c.3261C>T (p.Ile1087=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721116C>A | CA515261200 | SHANK3 | c.2884C>A (p.His962Asn) n.3468C>A c.1936C>A (p.His646Asn) c.1426C>A (p.His476Asn) c.*1882C>A (n.*1882C>A) c.3280C>A (p.His1094Asn) c.3262C>A (p.His1088Asn) | |
22 | g.50721116C= | CA2411008041 | SHANK3 | c.2884C= (p.His962=) n.3468C= c.1936C= (p.His646=) c.1426C= (p.His476=) c.*1882C= (n.*1882C=) c.3280C= (p.His1094=) c.3262C= (p.His1088=) | |
22 | g.50721116C>G | CA515261199 | SHANK3 | c.2884C>G (p.His962Asp) n.3468C>G c.1936C>G (p.His646Asp) c.1426C>G (p.His476Asp) c.*1882C>G (n.*1882C>G) c.3280C>G (p.His1094Asp) c.3262C>G (p.His1088Asp) | |
22 | g.50721116C>T | CA515261198 | SHANK3 | c.2884C>T (p.His962Tyr) n.3468C>T c.1936C>T (p.His646Tyr) c.1426C>T (p.His476Tyr) c.*1882C>T (n.*1882C>T) c.3280C>T (p.His1094Tyr) c.3262C>T (p.His1088Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721117A>C | CA515261201 | SHANK3 | c.2885A>C (p.His962Pro) n.3469A>C c.1937A>C (p.His646Pro) c.1427A>C (p.His476Pro) c.*1883A>C (n.*1883A>C) c.3281A>C (p.His1094Pro) c.3263A>C (p.His1088Pro) | |
22 | g.50721117A>G | CA515261202 | SHANK3 | c.2885A>G (p.His962Arg) n.3469A>G c.1937A>G (p.His646Arg) c.1427A>G (p.His476Arg) c.*1883A>G (n.*1883A>G) c.3281A>G (p.His1094Arg) c.3263A>G (p.His1088Arg) | |
22 | g.50721117A>T | CA515261203 | SHANK3 | c.2885A>T (p.His962Leu) n.3469A>T c.1937A>T (p.His646Leu) c.1427A>T (p.His476Leu) c.*1883A>T (n.*1883A>T) c.3281A>T (p.His1094Leu) c.3263A>T (p.His1088Leu) | |
22 | g.50721118C>A | CA515261204 | SHANK3 | c.2886C>A (p.His962Gln) n.3470C>A c.1938C>A (p.His646Gln) c.1428C>A (p.His476Gln) c.*1884C>A (n.*1884C>A) c.3282C>A (p.His1094Gln) c.3264C>A (p.His1088Gln) | |
22 | g.50721118C= | CA2411008042 | SHANK3 | c.2886C= (p.His962=) n.3470C= c.1938C= (p.His646=) c.1428C= (p.His476=) c.*1884C= (n.*1884C=) c.3282C= (p.His1094=) c.3264C= (p.His1088=) | |
22 | g.50721118C>G | CA515261205 | SHANK3 | c.2886C>G (p.His962Gln) n.3470C>G c.1938C>G (p.His646Gln) c.1428C>G (p.His476Gln) c.*1884C>G (n.*1884C>G) c.3282C>G (p.His1094Gln) c.3264C>G (p.His1088Gln) | |
22 | g.50721118C>T | CA515261206 | SHANK3 | c.2886C>T (p.His962=) n.3470C>T c.1938C>T (p.His646=) c.1428C>T (p.His476=) c.*1884C>T (n.*1884C>T) c.3282C>T (p.His1094=) c.3264C>T (p.His1088=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721120del | CA2657583427 | SHANK3 | c.2888del (p.Pro963HisfsTer?) n.3472del c.1940del (p.Pro647HisfsTer?) c.1430del (p.Pro477HisfsTer?) c.*1886del (n.*1886del) c.3284del (p.Pro1095HisfsTer?) c.3266del (p.Pro1089HisfsTer?) | gnomAD v4 |
22 | g.50721119C>A | CA515261207 | SHANK3 | c.2887C>A (p.Pro963Thr) n.3471C>A c.1939C>A (p.Pro647Thr) c.1429C>A (p.Pro477Thr) c.*1885C>A (n.*1885C>A) c.3283C>A (p.Pro1095Thr) c.3265C>A (p.Pro1089Thr) | gnomAD v4 |
22 | g.50721119C>G | CA515261209 | SHANK3 | c.2887C>G (p.Pro963Ala) n.3471C>G c.1939C>G (p.Pro647Ala) c.1429C>G (p.Pro477Ala) c.*1885C>G (n.*1885C>G) c.3283C>G (p.Pro1095Ala) c.3265C>G (p.Pro1089Ala) | |
22 | g.50721119C>T | CA515261208 | SHANK3 | c.2887C>T (p.Pro963Ser) n.3471C>T c.1939C>T (p.Pro647Ser) c.1429C>T (p.Pro477Ser) c.*1885C>T (n.*1885C>T) c.3283C>T (p.Pro1095Ser) c.3265C>T (p.Pro1089Ser) |