| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33441612G>A | CA16611900 | SYNGAP1,SYNGAP1-AS1 | c.1889G>A (p.Arg630Gln) c.2147G>A (p.Arg716Gln) c.*544G>A (n.*544G>A) c.1970G>A (p.Arg657Gln) c.2102G>A (p.Arg701Gln) n.330-4131C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33441612G>C | CA363623114 | SYNGAP1,SYNGAP1-AS1 | c.1889G>C (p.Arg630Pro) c.2147G>C (p.Arg716Pro) c.*544G>C (n.*544G>C) c.1970G>C (p.Arg657Pro) c.2102G>C (p.Arg701Pro) n.330-4131C>G | |
| 6 | g.33441612G= | CA1620013880 | SYNGAP1,SYNGAP1-AS1 | c.1889G= (p.Arg630=) c.2147G= (p.Arg716=) c.*544G= (n.*544G=) c.1970G= (p.Arg657=) c.2102G= (p.Arg701=) n.330-4131C= | |
| 6 | g.33441612G>T | CA363623110 | SYNGAP1,SYNGAP1-AS1 | c.1889G>T (p.Arg630Leu) c.2147G>T (p.Arg716Leu) c.*544G>T (n.*544G>T) c.1970G>T (p.Arg657Leu) c.2102G>T (p.Arg701Leu) n.330-4131C>A | |
| 6 | g.33441613G>A | CA450103570 | SYNGAP1,SYNGAP1-AS1 | c.1890G>A (p.Arg630=) c.2148G>A (p.Arg716=) c.*545G>A (n.*545G>A) c.1971G>A (p.Arg657=) c.2103G>A (p.Arg701=) n.330-4132C>T | gnomAD v4 |
| 6 | g.33441613G>C | CA450103571 | SYNGAP1,SYNGAP1-AS1 | c.1890G>C (p.Arg630=) c.2148G>C (p.Arg716=) c.*545G>C (n.*545G>C) c.1971G>C (p.Arg657=) c.2103G>C (p.Arg701=) n.330-4132C>G | |
| 6 | g.33441613G>T | CA450103572 | SYNGAP1,SYNGAP1-AS1 | c.1890G>T (p.Arg630=) c.2148G>T (p.Arg716=) c.*545G>T (n.*545G>T) c.1971G>T (p.Arg657=) c.2103G>T (p.Arg701=) n.330-4132C>A | |
| 6 | g.33441614C>A | CA363623117 | SYNGAP1,SYNGAP1-AS1 | c.1891C>A (p.Leu631Ile) c.2149C>A (p.Leu717Ile) c.*546C>A (n.*546C>A) c.1972C>A (p.Leu658Ile) c.2104C>A (p.Leu702Ile) n.330-4133G>T | |
| 6 | g.33441614C>G | CA363623119 | SYNGAP1,SYNGAP1-AS1 | c.1891C>G (p.Leu631Val) c.2149C>G (p.Leu717Val) c.*546C>G (n.*546C>G) c.1972C>G (p.Leu658Val) c.2104C>G (p.Leu702Val) n.330-4133G>C | |
| 6 | g.33441614C>T | CA363623121 | SYNGAP1,SYNGAP1-AS1 | c.1891C>T (p.Leu631Phe) c.2149C>T (p.Leu717Phe) c.*546C>T (n.*546C>T) c.1972C>T (p.Leu658Phe) c.2104C>T (p.Leu702Phe) n.330-4133G>A | COSMIC COSMIC |
| 6 | g.33441615T>A | CA363623131 | SYNGAP1,SYNGAP1-AS1 | c.1892T>A (p.Leu631His) c.2150T>A (p.Leu717His) c.*547T>A (n.*547T>A) c.1973T>A (p.Leu658His) c.2105T>A (p.Leu702His) n.330-4134A>T | |
| 6 | g.33441615T>C | CA363623145 | SYNGAP1,SYNGAP1-AS1 | c.1892T>C (p.Leu631Pro) c.2150T>C (p.Leu717Pro) c.*547T>C (n.*547T>C) c.1973T>C (p.Leu658Pro) c.2105T>C (p.Leu702Pro) n.330-4134A>G | |
| 6 | g.33441615T>G | CA363623147 | SYNGAP1,SYNGAP1-AS1 | c.1892T>G (p.Leu631Arg) c.2150T>G (p.Leu717Arg) c.*547T>G (n.*547T>G) c.1973T>G (p.Leu658Arg) c.2105T>G (p.Leu702Arg) n.330-4134A>C | |
| 6 | g.33441616C>A | CA450103573 | SYNGAP1,SYNGAP1-AS1 | c.1893C>A (p.Leu631=) c.2151C>A (p.Leu717=) c.*548C>A (n.*548C>A) c.1974C>A (p.Leu658=) c.2106C>A (p.Leu702=) n.330-4135G>T | |
| 6 | g.33441616C= | CA1620013881 | SYNGAP1,SYNGAP1-AS1 | c.1893C= (p.Leu631=) c.2151C= (p.Leu717=) c.*548C= (n.*548C=) c.1974C= (p.Leu658=) c.2106C= (p.Leu702=) n.330-4135G= | |
| 6 | g.33441616C>G | CA450103574 | SYNGAP1,SYNGAP1-AS1 | c.1893C>G (p.Leu631=) c.2151C>G (p.Leu717=) c.*548C>G (n.*548C>G) c.1974C>G (p.Leu658=) c.2106C>G (p.Leu702=) n.330-4135G>C | dbSNP |
| 6 | g.33441616C>T | CA450103575 | SYNGAP1,SYNGAP1-AS1 | c.1893C>T (p.Leu631=) c.2151C>T (p.Leu717=) c.*548C>T (n.*548C>T) c.1974C>T (p.Leu658=) c.2106C>T (p.Leu702=) n.330-4135G>A | ClinVar |
| 6 | g.33441617C>A | CA363623151 | SYNGAP1,SYNGAP1-AS1 | c.1894C>A (p.Leu632Ile) c.2152C>A (p.Leu718Ile) c.*549C>A (n.*549C>A) c.1975C>A (p.Leu659Ile) c.2107C>A (p.Leu703Ile) n.330-4136G>T | |
| 6 | g.33441617C>G | CA363623155 | SYNGAP1,SYNGAP1-AS1 | c.1894C>G (p.Leu632Val) c.2152C>G (p.Leu718Val) c.*549C>G (n.*549C>G) c.1975C>G (p.Leu659Val) c.2107C>G (p.Leu703Val) n.330-4136G>C | |
| 6 | g.33441617C>T | CA363623158 | SYNGAP1,SYNGAP1-AS1 | c.1894C>T (p.Leu632Phe) c.2152C>T (p.Leu718Phe) c.*549C>T (n.*549C>T) c.1975C>T (p.Leu659Phe) c.2107C>T (p.Leu703Phe) n.330-4136G>A | |
| 6 | g.33441618T>A | CA363623160 | SYNGAP1,SYNGAP1-AS1 | c.1895T>A (p.Leu632His) c.2153T>A (p.Leu718His) c.*550T>A (n.*550T>A) c.1976T>A (p.Leu659His) c.2108T>A (p.Leu703His) n.330-4137A>T | |
| 6 | g.33441618T>C | CA363623162 | SYNGAP1,SYNGAP1-AS1 | c.1895T>C (p.Leu632Pro) c.2153T>C (p.Leu718Pro) c.*550T>C (n.*550T>C) c.1976T>C (p.Leu659Pro) c.2108T>C (p.Leu703Pro) n.330-4137A>G | |
| 6 | g.33441618T>G | CA363623166 | SYNGAP1,SYNGAP1-AS1 | c.1895T>G (p.Leu632Arg) c.2153T>G (p.Leu718Arg) c.*550T>G (n.*550T>G) c.1976T>G (p.Leu659Arg) c.2108T>G (p.Leu703Arg) n.330-4137A>C | |
| 6 | g.33441619C>A | CA450103576 | SYNGAP1,SYNGAP1-AS1 | c.1896C>A (p.Leu632=) c.2154C>A (p.Leu718=) c.*551C>A (n.*551C>A) c.1977C>A (p.Leu659=) c.2109C>A (p.Leu703=) n.330-4138G>T | |
| 6 | g.33441619C>G | CA450103577 | SYNGAP1,SYNGAP1-AS1 | c.1896C>G (p.Leu632=) c.2154C>G (p.Leu718=) c.*551C>G (n.*551C>G) c.1977C>G (p.Leu659=) c.2109C>G (p.Leu703=) n.330-4138G>C | |
| 6 | g.33441619C>T | CA450103578 | SYNGAP1,SYNGAP1-AS1 | c.1896C>T (p.Leu632=) c.2154C>T (p.Leu718=) c.*551C>T (n.*551C>T) c.1977C>T (p.Leu659=) c.2109C>T (p.Leu703=) n.330-4138G>A | gnomAD v4 |
| 6 | g.33441620A>C | CA363623185 | SYNGAP1,SYNGAP1-AS1 | c.1897A>C (p.Asn633His) c.2155A>C (p.Asn719His) c.*552A>C (n.*552A>C) c.1978A>C (p.Asn660His) c.2110A>C (p.Asn704His) n.330-4139T>G | |
| 6 | g.33441620A>G | CA363623187 | SYNGAP1,SYNGAP1-AS1 | c.1897A>G (p.Asn633Asp) c.2155A>G (p.Asn719Asp) c.*552A>G (n.*552A>G) c.1978A>G (p.Asn660Asp) c.2110A>G (p.Asn704Asp) n.330-4139T>C | |
| 6 | g.33441620A>T | CA363623172 | SYNGAP1,SYNGAP1-AS1 | c.1897A>T (p.Asn633Tyr) c.2155A>T (p.Asn719Tyr) c.*552A>T (n.*552A>T) c.1978A>T (p.Asn660Tyr) c.2110A>T (p.Asn704Tyr) n.330-4139T>A | |
| 6 | g.33441621A= | CA1620013882 | SYNGAP1,SYNGAP1-AS1 | c.1898A= (p.Asn633=) c.2156A= (p.Asn719=) c.*553A= (n.*553A=) c.1979A= (p.Asn660=) c.2111A= (p.Asn704=) n.330-4140T= | |
| 6 | g.33441621A>C | CA363623191 | SYNGAP1,SYNGAP1-AS1 | c.1898A>C (p.Asn633Thr) c.2156A>C (p.Asn719Thr) c.*553A>C (n.*553A>C) c.1979A>C (p.Asn660Thr) c.2111A>C (p.Asn704Thr) n.330-4140T>G | |
| 6 | g.33441621A>G | CA363623192 | SYNGAP1,SYNGAP1-AS1 | c.1898A>G (p.Asn633Ser) c.2156A>G (p.Asn719Ser) c.*553A>G (n.*553A>G) c.1979A>G (p.Asn660Ser) c.2111A>G (p.Asn704Ser) n.330-4140T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33441621A>T | CA363623193 | SYNGAP1,SYNGAP1-AS1 | c.1898A>T (p.Asn633Ile) c.2156A>T (p.Asn719Ile) c.*553A>T (n.*553A>T) c.1979A>T (p.Asn660Ile) c.2111A>T (p.Asn704Ile) n.330-4140T>A | |
| 6 | g.33441622C>A | CA363623199 | SYNGAP1,SYNGAP1-AS1 | c.1899C>A (p.Asn633Lys) c.2157C>A (p.Asn719Lys) c.*554C>A (n.*554C>A) c.1980C>A (p.Asn660Lys) c.2112C>A (p.Asn704Lys) n.330-4141G>T | |
| 6 | g.33441622C= | CA1620013883 | SYNGAP1,SYNGAP1-AS1 | c.1899C= (p.Asn633=) c.2157C= (p.Asn719=) c.*554C= (n.*554C=) c.1980C= (p.Asn660=) c.2112C= (p.Asn704=) n.330-4141G= | |
| 6 | g.33441622C>G | CA363623202 | SYNGAP1,SYNGAP1-AS1 | c.1899C>G (p.Asn633Lys) c.2157C>G (p.Asn719Lys) c.*554C>G (n.*554C>G) c.1980C>G (p.Asn660Lys) c.2112C>G (p.Asn704Lys) n.330-4141G>C | |
| 6 | g.33441622C>T | CA3758806 | SYNGAP1,SYNGAP1-AS1 | c.1899C>T (p.Asn633=) c.2157C>T (p.Asn719=) c.*554C>T (n.*554C>T) c.1980C>T (p.Asn660=) c.2112C>T (p.Asn704=) n.330-4141G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33441623G>A | CA363623222 | SYNGAP1,SYNGAP1-AS1 | c.1900G>A (p.Asp634Asn) c.2158G>A (p.Asp720Asn) c.*555G>A (n.*555G>A) c.1981G>A (p.Asp661Asn) c.2113G>A (p.Asp705Asn) n.330-4142C>T | ClinVar gnomAD v4 |
| 6 | g.33441623G>C | CA363623226 | SYNGAP1,SYNGAP1-AS1 | c.1900G>C (p.Asp634His) c.2158G>C (p.Asp720His) c.*555G>C (n.*555G>C) c.1981G>C (p.Asp661His) c.2113G>C (p.Asp705His) n.330-4142C>G | |
| 6 | g.33441623G>T | CA363623225 | SYNGAP1,SYNGAP1-AS1 | c.1900G>T (p.Asp634Tyr) c.2158G>T (p.Asp720Tyr) c.*555G>T (n.*555G>T) c.1981G>T (p.Asp661Tyr) c.2113G>T (p.Asp705Tyr) n.330-4142C>A | |
| 6 | g.33441624A>C | CA363623231 | SYNGAP1,SYNGAP1-AS1 | c.1901A>C (p.Asp634Ala) c.2159A>C (p.Asp720Ala) c.*556A>C (n.*556A>C) c.1982A>C (p.Asp661Ala) c.2114A>C (p.Asp705Ala) n.330-4143T>G | |
| 6 | g.33441624A>G | CA363623238 | SYNGAP1,SYNGAP1-AS1 | c.1901A>G (p.Asp634Gly) c.2159A>G (p.Asp720Gly) c.*556A>G (n.*556A>G) c.1982A>G (p.Asp661Gly) c.2114A>G (p.Asp705Gly) n.330-4143T>C | |
| 6 | g.33441624A>T | CA363623240 | SYNGAP1,SYNGAP1-AS1 | c.1901A>T (p.Asp634Val) c.2159A>T (p.Asp720Val) c.*556A>T (n.*556A>T) c.1982A>T (p.Asp661Val) c.2114A>T (p.Asp705Val) n.330-4143T>A | |
| 6 | g.33441625C>A | CA363623251 | SYNGAP1,SYNGAP1-AS1 | c.1902C>A (p.Asp634Glu) c.2160C>A (p.Asp720Glu) c.*557C>A (n.*557C>A) c.1983C>A (p.Asp661Glu) c.2115C>A (p.Asp705Glu) n.330-4144G>T | |
| 6 | g.33441625C>G | CA363623257 | SYNGAP1,SYNGAP1-AS1 | c.1902C>G (p.Asp634Glu) c.2160C>G (p.Asp720Glu) c.*557C>G (n.*557C>G) c.1983C>G (p.Asp661Glu) c.2115C>G (p.Asp705Glu) n.330-4144G>C | |
| 6 | g.33441625C>T | CA450103579 | SYNGAP1,SYNGAP1-AS1 | c.1902C>T (p.Asp634=) c.2160C>T (p.Asp720=) c.*557C>T (n.*557C>T) c.1983C>T (p.Asp661=) c.2115C>T (p.Asp705=) n.330-4144G>A | ClinVar |
| 6 | g.33441626A>C | CA363623264 | SYNGAP1,SYNGAP1-AS1 | c.1903A>C (p.Ile635Leu) c.2161A>C (p.Ile721Leu) c.*558A>C (n.*558A>C) c.1984A>C (p.Ile662Leu) c.2116A>C (p.Ile706Leu) n.330-4145T>G | |
| 6 | g.33441626A>G | CA363623268 | SYNGAP1,SYNGAP1-AS1 | c.1903A>G (p.Ile635Val) c.2161A>G (p.Ile721Val) c.*558A>G (n.*558A>G) c.1984A>G (p.Ile662Val) c.2116A>G (p.Ile706Val) n.330-4145T>C | |
| 6 | g.33441626A>T | CA363623262 | SYNGAP1,SYNGAP1-AS1 | c.1903A>T (p.Ile635Phe) c.2161A>T (p.Ile721Phe) c.*558A>T (n.*558A>T) c.1984A>T (p.Ile662Phe) c.2116A>T (p.Ile706Phe) n.330-4145T>A | |
| 6 | g.33441627T>A | CA363623281 | SYNGAP1,SYNGAP1-AS1 | c.1904T>A (p.Ile635Asn) c.2162T>A (p.Ile721Asn) c.*559T>A (n.*559T>A) c.1985T>A (p.Ile662Asn) c.2117T>A (p.Ile706Asn) n.330-4146A>T |