Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33432680_33432683dup | CA1620010163 | SYNGAP1 | c.130-5_130-2dup (n.130-5_130-2dup) c.388-5_388-2dup (n.388-5_388-2dup) c.211-5_211-2dup (n.211-5_211-2dup) c.343-5_343-2dup (n.343-5_343-2dup) n.583-5_583-2dup | dbSNP |
6 | g.33432684_33432686del | CA2678270945 | SYNGAP1 | c.130-1_131del c.388-1_389del c.211-1_212del c.343-1_344del n.583-1_584del | gnomAD v4 |
6 | g.33432683del | CA1087666535 | SYNGAP1 | c.130-2del (n.130-2del) c.388-2del (n.388-2del) c.211-2del (n.211-2del) c.343-2del (n.343-2del) n.583-2del | ClinVar gnomAD v3 gnomAD v4 |
6 | g.33432683A= | CA1620010168 | SYNGAP1 | c.130-2A= (n.130-2A=) c.388-2A= (n.388-2A=) c.211-2A= (n.211-2A=) c.343-2A= (n.343-2A=) n.583-2A= | |
6 | g.33432683A>C | CA363680395 | SYNGAP1 | c.130-2A>C (n.130-2A>C) c.388-2A>C (n.388-2A>C) c.211-2A>C (n.211-2A>C) c.343-2A>C (n.343-2A>C) n.583-2A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33432683A>G | CA204471 | SYNGAP1 | c.130-2A>G (n.130-2A>G) c.388-2A>G (n.388-2A>G) c.211-2A>G (n.211-2A>G) c.343-2A>G (n.343-2A>G) n.583-2A>G | ClinVar dbSNP |
6 | g.33432683A>T | CA363680397 | SYNGAP1 | c.130-2A>T (n.130-2A>T) c.388-2A>T (n.388-2A>T) c.211-2A>T (n.211-2A>T) c.343-2A>T (n.343-2A>T) n.583-2A>T | |
6 | g.33432683dup | CA2678270953 | SYNGAP1 | c.130-2dup (n.130-2dup) c.388-2dup (n.388-2dup) c.211-2dup (n.211-2dup) c.343-2dup (n.343-2dup) n.583-2dup | gnomAD v4 |
6 | g.33432683_33432684del | CA2678270956 | SYNGAP1 | c.130-2_130-1del (n.130-2_130-1del) c.388-2_388-1del (n.388-2_388-1del) c.211-2_211-1del (n.211-2_211-1del) c.343-2_343-1del (n.343-2_343-1del) n.583-2_583-1del | gnomAD v4 |
6 | g.33432684del | CA2678270962 | SYNGAP1 | c.130-1del (n.130-1del) c.388-1del (n.388-1del) c.211-1del (n.211-1del) c.343-1del (n.343-1del) n.583-1del | gnomAD v4 |
6 | g.33432684G>A | CA363680399 | SYNGAP1 | c.130-1G>A (n.130-1G>A) c.388-1G>A (n.388-1G>A) c.211-1G>A (n.211-1G>A) c.343-1G>A (n.343-1G>A) n.583-1G>A | gnomAD v3 gnomAD v4 |
6 | g.33432684G>C | CA363680402 | SYNGAP1 | c.130-1G>C (n.130-1G>C) c.388-1G>C (n.388-1G>C) c.211-1G>C (n.211-1G>C) c.343-1G>C (n.343-1G>C) n.583-1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33432684G= | CA1620010169 | SYNGAP1 | c.130-1G= (n.130-1G=) c.388-1G= (n.388-1G=) c.211-1G= (n.211-1G=) c.343-1G= (n.343-1G=) n.583-1G= | |
6 | g.33432684G>T | CA363680400 | SYNGAP1 | c.130-1G>T (n.130-1G>T) c.388-1G>T (n.388-1G>T) c.211-1G>T (n.211-1G>T) c.343-1G>T (n.343-1G>T) n.583-1G>T | |
6 | g.33432685C>A | CA363680404 | SYNGAP1 | c.130C>A (p.Gln44Lys) c.388C>A (p.Gln130Lys) c.211C>A (p.Gln71Lys) c.343C>A (p.Gln115Lys) n.583C>A | |
6 | g.33432685C= | CA1620010170 | SYNGAP1 | c.130C= (p.Gln44=) c.388C= (p.Gln130=) c.211C= (p.Gln71=) c.343C= (p.Gln115=) n.583C= | |
6 | g.33432685C>G | CA363680406 | SYNGAP1 | c.130C>G (p.Gln44Glu) c.388C>G (p.Gln130Glu) c.211C>G (p.Gln71Glu) c.343C>G (p.Gln115Glu) n.583C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33432685C>T | CA363680407 | SYNGAP1 | c.130C>T (p.Gln44Ter) c.388C>T (p.Gln130Ter) c.211C>T (p.Gln71Ter) c.343C>T (p.Gln115Ter) n.583C>T | ClinVar dbSNP |
6 | g.33432686A>C | CA363680410 | SYNGAP1 | c.131A>C (p.Gln44Pro) c.389A>C (p.Gln130Pro) c.212A>C (p.Gln71Pro) c.344A>C (p.Gln115Pro) n.584A>C | |
6 | g.33432686A>G | CA363680411 | SYNGAP1 | c.131A>G (p.Gln44Arg) c.389A>G (p.Gln130Arg) c.212A>G (p.Gln71Arg) c.344A>G (p.Gln115Arg) n.584A>G | |
6 | g.33432686A>T | CA363680413 | SYNGAP1 | c.131A>T (p.Gln44Leu) c.389A>T (p.Gln130Leu) c.212A>T (p.Gln71Leu) c.344A>T (p.Gln115Leu) n.584A>T | |
6 | g.33432687A= | CA1620010171 | SYNGAP1 | c.132A= (p.Gln44=) c.390A= (p.Gln130=) c.213A= (p.Gln71=) c.345A= (p.Gln115=) n.585A= | |
6 | g.33432687A>C | CA363680416 | SYNGAP1 | c.132A>C (p.Gln44His) c.390A>C (p.Gln130His) c.213A>C (p.Gln71His) c.345A>C (p.Gln115His) n.585A>C | |
6 | g.33432687A>G | CA449860139 | SYNGAP1 | c.132A>G (p.Gln44=) c.390A>G (p.Gln130=) c.213A>G (p.Gln71=) c.345A>G (p.Gln115=) n.585A>G | dbSNP gnomAD v4 |
6 | g.33432687A>T | CA363680417 | SYNGAP1 | c.132A>T (p.Gln44His) c.390A>T (p.Gln130His) c.213A>T (p.Gln71His) c.345A>T (p.Gln115His) n.585A>T | |
6 | g.33432688G>A | CA363680421 | SYNGAP1 | c.133G>A (p.Gly45Ser) c.391G>A (p.Gly131Ser) c.214G>A (p.Gly72Ser) c.346G>A (p.Gly116Ser) n.586G>A | |
6 | g.33432688G>C | CA363680422 | SYNGAP1 | c.133G>C (p.Gly45Arg) c.391G>C (p.Gly131Arg) c.214G>C (p.Gly72Arg) c.346G>C (p.Gly116Arg) n.586G>C | |
6 | g.33432688G>T | CA363680423 | SYNGAP1 | c.133G>T (p.Gly45Cys) c.391G>T (p.Gly131Cys) c.214G>T (p.Gly72Cys) c.346G>T (p.Gly116Cys) n.586G>T | |
6 | g.33432689G>A | CA363680429 | SYNGAP1 | c.134G>A (p.Gly45Asp) c.392G>A (p.Gly131Asp) c.215G>A (p.Gly72Asp) c.347G>A (p.Gly116Asp) n.587G>A | |
6 | g.33432689G>C | CA363680428 | SYNGAP1 | c.134G>C (p.Gly45Ala) c.392G>C (p.Gly131Ala) c.215G>C (p.Gly72Ala) c.347G>C (p.Gly116Ala) n.587G>C | |
6 | g.33432689G>T | CA363680426 | SYNGAP1 | c.134G>T (p.Gly45Val) c.392G>T (p.Gly131Val) c.215G>T (p.Gly72Val) c.347G>T (p.Gly116Val) n.587G>T | |
6 | g.33432690C>A | CA449860159 | SYNGAP1 | c.135C>A (p.Gly45=) c.393C>A (p.Gly131=) c.216C>A (p.Gly72=) c.348C>A (p.Gly116=) n.588C>A | gnomAD v4 |
6 | g.33432690C= | CA1620010172 | SYNGAP1 | c.135C= (p.Gly45=) c.393C= (p.Gly131=) c.216C= (p.Gly72=) c.348C= (p.Gly116=) n.588C= | |
6 | g.33432690C>G | CA449860162 | SYNGAP1 | c.135C>G (p.Gly45=) c.393C>G (p.Gly131=) c.216C>G (p.Gly72=) c.348C>G (p.Gly116=) n.588C>G | |
6 | g.33432690C>T | CA3758491 | SYNGAP1 | c.135C>T (p.Gly45=) c.393C>T (p.Gly131=) c.216C>T (p.Gly72=) c.348C>T (p.Gly116=) n.588C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33432691T>A | CA363680433 | SYNGAP1 | c.136T>A (p.Phe46Ile) c.394T>A (p.Phe132Ile) c.217T>A (p.Phe73Ile) c.349T>A (p.Phe117Ile) n.589T>A | |
6 | g.33432691T>C | CA363680434 | SYNGAP1 | c.136T>C (p.Phe46Leu) c.394T>C (p.Phe132Leu) c.217T>C (p.Phe73Leu) c.349T>C (p.Phe117Leu) n.589T>C | gnomAD v3 gnomAD v4 |
6 | g.33432691T>G | CA363680435 | SYNGAP1 | c.136T>G (p.Phe46Val) c.394T>G (p.Phe132Val) c.217T>G (p.Phe73Val) c.349T>G (p.Phe117Val) n.589T>G | |
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.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 |