Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33432692T>A | CA363680437 | SYNGAP1 | c.137T>A (p.Phe46Tyr) c.395T>A (p.Phe132Tyr) c.218T>A (p.Phe73Tyr) c.350T>A (p.Phe117Tyr) n.590T>A | |
6 | g.33432692T>C | CA363680439 | SYNGAP1 | c.137T>C (p.Phe46Ser) c.395T>C (p.Phe132Ser) c.218T>C (p.Phe73Ser) c.350T>C (p.Phe117Ser) n.590T>C | |
6 | g.33432692T>G | CA363680441 | SYNGAP1 | c.137T>G (p.Phe46Cys) c.395T>G (p.Phe132Cys) c.218T>G (p.Phe73Cys) c.350T>G (p.Phe117Cys) n.590T>G | |
6 | g.33432693C>A | CA363680443 | SYNGAP1 | c.138C>A (p.Phe46Leu) c.396C>A (p.Phe132Leu) c.219C>A (p.Phe73Leu) c.351C>A (p.Phe117Leu) n.591C>A | |
6 | g.33432693C>G | CA363680444 | SYNGAP1 | c.138C>G (p.Phe46Leu) c.396C>G (p.Phe132Leu) c.219C>G (p.Phe73Leu) c.351C>G (p.Phe117Leu) n.591C>G | |
6 | g.33432693C>T | CA449860180 | SYNGAP1 | c.138C>T (p.Phe46=) c.396C>T (p.Phe132=) c.219C>T (p.Phe73=) c.351C>T (p.Phe117=) n.591C>T | COSMIC COSMIC |
6 | g.33432694_33432724dup | CA2770571985 | SYNGAP1 | c.139_169dup (p.Arg57ProfsTer19) c.397_427dup (p.Arg143ProfsTer19) c.220_250dup (p.Arg84ProfsTer19) c.352_382dup (p.Arg128ProfsTer19) n.592_622dup | |
6 | g.33432694C>A | CA3758492 | SYNGAP1 | c.139C>A (p.Leu47Met) c.397C>A (p.Leu133Met) c.220C>A (p.Leu74Met) c.352C>A (p.Leu118Met) n.592C>A | dbSNP ExAC gnomAD v2 |
6 | g.33432694C= | CA1620010173 | SYNGAP1 | c.139C= (p.Leu47=) c.397C= (p.Leu133=) c.220C= (p.Leu74=) c.352C= (p.Leu118=) n.592C= | |
6 | g.33432694C>G | CA363680448 | SYNGAP1 | c.139C>G (p.Leu47Val) c.397C>G (p.Leu133Val) c.220C>G (p.Leu74Val) c.352C>G (p.Leu118Val) n.592C>G | |
6 | g.33432694C>T | CA449860183 | SYNGAP1 | c.139C>T (p.Leu47=) c.397C>T (p.Leu133=) c.220C>T (p.Leu74=) c.352C>T (p.Leu118=) n.592C>T | dbSNP |
6 | g.33432695T>A | CA363680450 | SYNGAP1 | c.140T>A (p.Leu47Gln) c.398T>A (p.Leu133Gln) c.221T>A (p.Leu74Gln) c.353T>A (p.Leu118Gln) n.593T>A | |
6 | g.33432695T>C | CA363680451 | SYNGAP1 | c.140T>C (p.Leu47Pro) c.398T>C (p.Leu133Pro) c.221T>C (p.Leu74Pro) c.353T>C (p.Leu118Pro) n.593T>C | |
6 | g.33432695T>G | CA363680453 | SYNGAP1 | c.140T>G (p.Leu47Arg) c.398T>G (p.Leu133Arg) c.221T>G (p.Leu74Arg) c.353T>G (p.Leu118Arg) n.593T>G | |
6 | g.33432696G>A | CA449860186 | SYNGAP1 | c.141G>A (p.Leu47=) c.399G>A (p.Leu133=) c.222G>A (p.Leu74=) c.354G>A (p.Leu118=) n.594G>A | |
6 | g.33432696G>C | CA449860187 | SYNGAP1 | c.141G>C (p.Leu47=) c.399G>C (p.Leu133=) c.222G>C (p.Leu74=) c.354G>C (p.Leu118=) n.594G>C | |
6 | g.33432696G>T | CA449860189 | SYNGAP1 | c.141G>T (p.Leu47=) c.399G>T (p.Leu133=) c.222G>T (p.Leu74=) c.354G>T (p.Leu118=) n.594G>T | |
6 | g.33432697A>C | CA363680459 | SYNGAP1 | c.142A>C (p.Ser48Arg) c.400A>C (p.Ser134Arg) c.223A>C (p.Ser75Arg) c.355A>C (p.Ser119Arg) n.595A>C | |
6 | g.33432697A>G | CA363680455 | SYNGAP1 | c.142A>G (p.Ser48Gly) c.400A>G (p.Ser134Gly) c.223A>G (p.Ser75Gly) c.355A>G (p.Ser119Gly) n.595A>G | |
6 | g.33432697A>T | CA363680457 | SYNGAP1 | c.142A>T (p.Ser48Cys) c.400A>T (p.Ser134Cys) c.223A>T (p.Ser75Cys) c.355A>T (p.Ser119Cys) n.595A>T | |
6 | g.33432698G>A | CA363680461 | SYNGAP1 | c.143G>A (p.Ser48Asn) c.401G>A (p.Ser134Asn) c.224G>A (p.Ser75Asn) c.356G>A (p.Ser119Asn) n.596G>A | ClinVar |
6 | g.33432698G>C | CA363680463 | SYNGAP1 | c.143G>C (p.Ser48Thr) c.401G>C (p.Ser134Thr) c.224G>C (p.Ser75Thr) c.356G>C (p.Ser119Thr) n.596G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33432698G= | CA1620010174 | SYNGAP1 | c.143G= (p.Ser48=) c.401G= (p.Ser134=) c.224G= (p.Ser75=) c.356G= (p.Ser119=) n.596G= | |
6 | g.33432698G>T | CA363680465 | SYNGAP1 | c.143G>T (p.Ser48Ile) c.401G>T (p.Ser134Ile) c.224G>T (p.Ser75Ile) c.356G>T (p.Ser119Ile) n.596G>T | |
6 | g.33432699C>A | CA363680467 | SYNGAP1 | c.144C>A (p.Ser48Arg) c.402C>A (p.Ser134Arg) c.225C>A (p.Ser75Arg) c.357C>A (p.Ser119Arg) n.597C>A | COSMIC COSMIC |
6 | g.33432699C>G | CA363680469 | SYNGAP1 | c.144C>G (p.Ser48Arg) c.402C>G (p.Ser134Arg) c.225C>G (p.Ser75Arg) c.357C>G (p.Ser119Arg) n.597C>G | |
6 | g.33432699C>T | CA449860198 | SYNGAP1 | c.144C>T (p.Ser48=) c.402C>T (p.Ser134=) c.225C>T (p.Ser75=) c.357C>T (p.Ser119=) n.597C>T | gnomAD v4 |
6 | g.33432700C>A | CA449860199 | SYNGAP1 | c.145C>A (p.Arg49=) c.403C>A (p.Arg135=) c.226C>A (p.Arg76=) c.358C>A (p.Arg120=) n.598C>A | |
6 | g.33432700C= | CA1620010175 | SYNGAP1 | c.145C= (p.Arg49=) c.403C= (p.Arg135=) c.226C= (p.Arg76=) c.358C= (p.Arg120=) n.598C= | |
6 | g.33432700C>G | CA363680471 | SYNGAP1 | c.145C>G (p.Arg49Gly) c.403C>G (p.Arg135Gly) c.226C>G (p.Arg76Gly) c.358C>G (p.Arg120Gly) n.598C>G | |
6 | g.33432700C>T | CA363680472 | SYNGAP1 | c.145C>T (p.Arg49Ter) c.403C>T (p.Arg135Ter) c.226C>T (p.Arg76Ter) c.358C>T (p.Arg120Ter) n.598C>T | ClinVar dbSNP gnomAD v2 |
6 | g.33432701G>A | CA363680475 | SYNGAP1 | c.146G>A (p.Arg49Gln) c.404G>A (p.Arg135Gln) c.227G>A (p.Arg76Gln) c.359G>A (p.Arg120Gln) n.599G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33432701G>C | CA363680477 | SYNGAP1 | c.146G>C (p.Arg49Pro) c.404G>C (p.Arg135Pro) c.227G>C (p.Arg76Pro) c.359G>C (p.Arg120Pro) n.599G>C | |
6 | g.33432701G= | CA1620010176 | SYNGAP1 | c.146G= (p.Arg49=) c.404G= (p.Arg135=) c.227G= (p.Arg76=) c.359G= (p.Arg120=) n.599G= | |
6 | g.33432701G>T | CA363680479 | SYNGAP1 | c.146G>T (p.Arg49Leu) c.404G>T (p.Arg135Leu) c.227G>T (p.Arg76Leu) c.359G>T (p.Arg120Leu) n.599G>T | |
6 | g.33432701_33432707del | CA2697553286 | SYNGAP1 | c.146_152del (p.Arg49GlnfsTer?) c.404_410del (p.Arg135GlnfsTer?) c.227_233del (p.Arg76GlnfsTer?) c.359_365del (p.Arg120GlnfsTer?) n.599_605del | ClinVar |
6 | g.33432702A>C | CA449860207 | SYNGAP1 | c.147A>C (p.Arg49=) c.405A>C (p.Arg135=) c.228A>C (p.Arg76=) c.360A>C (p.Arg120=) n.600A>C | |
6 | g.33432702A>G | CA449860208 | SYNGAP1 | c.147A>G (p.Arg49=) c.405A>G (p.Arg135=) c.228A>G (p.Arg76=) c.360A>G (p.Arg120=) n.600A>G | |
6 | g.33432702A>T | CA449860205 | SYNGAP1 | c.147A>T (p.Arg49=) c.405A>T (p.Arg135=) c.228A>T (p.Arg76=) c.360A>T (p.Arg120=) n.600A>T | gnomAD v4 |
6 | g.33432703C>A | CA449860211 | SYNGAP1 | c.148C>A (p.Arg50=) c.406C>A (p.Arg136=) c.229C>A (p.Arg77=) c.361C>A (p.Arg121=) n.601C>A | dbSNP gnomAD v4 |
6 | g.33432703C= | CA1620010177 | SYNGAP1 | c.148C= (p.Arg50=) c.406C= (p.Arg136=) c.229C= (p.Arg77=) c.361C= (p.Arg121=) n.601C= | |
6 | g.33432703C>G | CA363680481 | SYNGAP1 | c.148C>G (p.Arg50Gly) c.406C>G (p.Arg136Gly) c.229C>G (p.Arg77Gly) c.361C>G (p.Arg121Gly) n.601C>G | |
6 | g.33432703C>T | CA363680483 | SYNGAP1 | c.148C>T (p.Arg50Trp) c.406C>T (p.Arg136Trp) c.229C>T (p.Arg77Trp) c.361C>T (p.Arg121Trp) n.601C>T | ClinVar dbSNP COSMIC COSMIC |
6 | g.33432703dup | CA2739289875 | SYNGAP1 | c.148dup (p.Arg50ProfsTer16) c.406dup (p.Arg136ProfsTer16) c.229dup (p.Arg77ProfsTer16) c.361dup (p.Arg121ProfsTer16) n.601dup | |
6 | g.33432704G>A | CA3758493 | SYNGAP1 | c.149G>A (p.Arg50Gln) c.407G>A (p.Arg136Gln) c.230G>A (p.Arg77Gln) c.362G>A (p.Arg121Gln) n.602G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33432704G>C | CA363680487 | SYNGAP1 | c.149G>C (p.Arg50Pro) c.407G>C (p.Arg136Pro) c.230G>C (p.Arg77Pro) c.362G>C (p.Arg121Pro) n.602G>C | ClinVar dbSNP |
6 | g.33432704G= | CA1620010178 | SYNGAP1 | c.149G= (p.Arg50=) c.407G= (p.Arg136=) c.230G= (p.Arg77=) c.362G= (p.Arg121=) n.602G= | |
6 | g.33432704G>T | CA363680485 | SYNGAP1 | c.149G>T (p.Arg50Leu) c.407G>T (p.Arg136Leu) c.230G>T (p.Arg77Leu) c.362G>T (p.Arg121Leu) n.602G>T | gnomAD v4 |
6 | g.33432705G>A | CA449860216 | SYNGAP1 | c.150G>A (p.Arg50=) c.408G>A (p.Arg136=) c.231G>A (p.Arg77=) c.363G>A (p.Arg121=) n.603G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33432705G>C | CA449860219 | SYNGAP1 | c.150G>C (p.Arg50=) c.408G>C (p.Arg136=) c.231G>C (p.Arg77=) c.363G>C (p.Arg121=) n.603G>C |