Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71147159C>A | CA475815200 | SHANK2 | c.168G>T (p.Thr56=) | dbSNP gnomAD v2 |
11 | g.71147159C= | CA1981346073 | SHANK2 | c.168G= (p.Thr56=) | |
11 | g.71147159C>G | CA475815201 | SHANK2 | c.168G>C (p.Thr56=) | |
11 | g.71147159C>T | CA6162169 | SHANK2 | c.168G>A (p.Thr56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147159_71147160insAA | CA2614884938 | SHANK2 | c.167_168insTT (p.Leu57CysfsTer3) | gnomAD v4 |
11 | g.71147160G>A | CA6162170 | SHANK2 | c.167C>T (p.Thr56Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147160G>C | CA381961168 | SHANK2 | c.167C>G (p.Thr56Arg) | gnomAD v4 |
11 | g.71147160G= | CA1981346077 | SHANK2 | c.167C= (p.Thr56=) | |
11 | g.71147160G>T | CA381961169 | SHANK2 | c.167C>A (p.Thr56Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147161T>A | CA381961170 | SHANK2 | c.166A>T (p.Thr56Ser) | |
11 | g.71147161T>C | CA381961171 | SHANK2 | c.166A>G (p.Thr56Ala) | gnomAD v4 |
11 | g.71147161T>G | CA381961172 | SHANK2 | c.166A>C (p.Thr56Pro) | |
11 | g.71147162G>A | CA475815206 | SHANK2 | c.165C>T (p.Asn55=) | gnomAD v4 |
11 | g.71147162G>C | CA381961173 | SHANK2 | c.165C>G (p.Asn55Lys) | |
11 | g.71147162G>T | CA381961174 | SHANK2 | c.165C>A (p.Asn55Lys) | |
11 | g.71147163T>A | CA381961175 | SHANK2 | c.164A>T (p.Asn55Ile) | gnomAD v4 |
11 | g.71147163T>C | CA6162171 | SHANK2 | c.164A>G (p.Asn55Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147163T>G | CA381961176 | SHANK2 | c.164A>C (p.Asn55Thr) | dbSNP |
11 | g.71147163T= | CA1981346083 | SHANK2 | c.164A= (p.Asn55=) | |
11 | g.71147164T>A | CA381961177 | SHANK2 | c.163A>T (p.Asn55Tyr) | |
11 | g.71147164T>C | CA381961178 | SHANK2 | c.163A>G (p.Asn55Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147164T>G | CA6162172 | SHANK2 | c.163A>C (p.Asn55His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71147164T= | CA1981346088 | SHANK2 | c.163A= (p.Asn55=) | |
11 | g.71147165del | CA2740093123 | SHANK2 | c.162del (p.Asn55ThrfsTer4) | ClinVar |
11 | g.71147165G>A | CA475815207 | SHANK2 | c.162C>T (p.Gly54=) | gnomAD v4 |
11 | g.71147165G>C | CA475815208 | SHANK2 | c.162C>G (p.Gly54=) | |
11 | g.71147165G>T | CA475815209 | SHANK2 | c.162C>A (p.Gly54=) | |
11 | g.71147166C>A | CA381961179 | SHANK2 | c.161G>T (p.Gly54Val) | gnomAD v4 COSMIC |
11 | g.71147166C= | CA1981346091 | SHANK2 | c.161G= (p.Gly54=) | |
11 | g.71147166C>G | CA381961181 | SHANK2 | c.161G>C (p.Gly54Ala) | |
11 | g.71147166C>T | CA381961180 | SHANK2 | c.161G>A (p.Gly54Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147167C>A | CA381961182 | SHANK2 | c.160G>T (p.Gly54Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147167C= | CA1981346095 | SHANK2 | c.160G= (p.Gly54=) | |
11 | g.71147167C>G | CA381961184 | SHANK2 | c.160G>C (p.Gly54Arg) | |
11 | g.71147167C>T | CA381961183 | SHANK2 | c.160G>A (p.Gly54Ser) | dbSNP |
11 | g.71147168C>A | CA381961185 | SHANK2 | c.159G>T (p.Gln53His) | |
11 | g.71147168C>G | CA381961186 | SHANK2 | c.159G>C (p.Gln53His) | |
11 | g.71147168C>T | CA475815211 | SHANK2 | c.159G>A (p.Gln53=) | gnomAD v4 |
11 | g.71147169T>A | CA381961187 | SHANK2 | c.158A>T (p.Gln53Leu) | |
11 | g.71147169T>C | CA381961189 | SHANK2 | c.158A>G (p.Gln53Arg) | |
11 | g.71147169T>G | CA381961188 | SHANK2 | c.158A>C (p.Gln53Pro) | |
11 | g.71147170G>A | CA381961190 | SHANK2 | c.157C>T (p.Gln53Ter) | |
11 | g.71147170G>C | CA381961193 | SHANK2 | c.157C>G (p.Gln53Glu) | |
11 | g.71147170G>T | CA381961191 | SHANK2 | c.157C>A (p.Gln53Lys) | |
11 | g.71147171G>A | CA475815213 | SHANK2 | c.156C>T (p.Ser52=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147171G>C | CA381961195 | SHANK2 | c.156C>G (p.Ser52Arg) | gnomAD v4 |
11 | g.71147171G= | CA1981346098 | SHANK2 | c.156C= (p.Ser52=) | |
11 | g.71147171G>T | CA381961196 | SHANK2 | c.156C>A (p.Ser52Arg) | |
11 | g.71147172C>A | CA381961197 | SHANK2 | c.155G>T (p.Ser52Ile) | gnomAD v4 |
11 | g.71147172C>G | CA381961199 | SHANK2 | c.155G>C (p.Ser52Thr) |