Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33435056C>A | CA1620011241 | SYNGAP1 | c.252-96C>A (n.252-96C>A) c.510-96C>A (n.510-96C>A) c.333-96C>A (n.333-96C>A) c.465-96C>A (n.465-96C>A) n.705-96C>A | dbSNP gnomAD v4 |
6 | g.33435056C= | CA1620011240 | SYNGAP1 | c.252-96C= (n.252-96C=) c.510-96C= (n.510-96C=) c.333-96C= (n.333-96C=) c.465-96C= (n.465-96C=) n.705-96C= | |
6 | g.33435056C>T | CA137097571 | SYNGAP1 | c.252-96C>T (n.252-96C>T) c.510-96C>T (n.510-96C>T) c.333-96C>T (n.333-96C>T) c.465-96C>T (n.465-96C>T) n.705-96C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435057G>A | CA824051106 | SYNGAP1 | c.252-95G>A (n.252-95G>A) c.510-95G>A (n.510-95G>A) c.333-95G>A (n.333-95G>A) c.465-95G>A (n.465-95G>A) n.705-95G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435057G= | CA1620011242 | SYNGAP1 | c.252-95G= (n.252-95G=) c.510-95G= (n.510-95G=) c.333-95G= (n.333-95G=) c.465-95G= (n.465-95G=) n.705-95G= | |
6 | g.33435057G>T | CA2678271704 | SYNGAP1 | c.252-95G>T (n.252-95G>T) c.510-95G>T (n.510-95G>T) c.333-95G>T (n.333-95G>T) c.465-95G>T (n.465-95G>T) n.705-95G>T | gnomAD v4 |
6 | g.33435058_33435106del | CA2678271702 | SYNGAP1 | c.252-94_252-46del (n.252-94_252-46del) c.510-94_510-46del (n.510-94_510-46del) c.333-94_333-46del (n.333-94_333-46del) c.465-94_465-46del (n.465-94_465-46del) n.705-94_705-46del | gnomAD v4 |
6 | g.33435059C>A | CA1087667904 | SYNGAP1 | c.252-93C>A (n.252-93C>A) c.510-93C>A (n.510-93C>A) c.333-93C>A (n.333-93C>A) c.465-93C>A (n.465-93C>A) n.705-93C>A | gnomAD v3 gnomAD v4 |
6 | g.33435059C>G | CA2512349425 | SYNGAP1 | c.252-93C>G (n.252-93C>G) c.510-93C>G (n.510-93C>G) c.333-93C>G (n.333-93C>G) c.465-93C>G (n.465-93C>G) n.705-93C>G | |
6 | g.33435060A>C | CA2678271711 | SYNGAP1 | c.252-92A>C (n.252-92A>C) c.510-92A>C (n.510-92A>C) c.333-92A>C (n.333-92A>C) c.465-92A>C (n.465-92A>C) n.705-92A>C | gnomAD v4 |
6 | g.33435060A>G | CA2578585369 | SYNGAP1 | c.252-92A>G (n.252-92A>G) c.510-92A>G (n.510-92A>G) c.333-92A>G (n.333-92A>G) c.465-92A>G (n.465-92A>G) n.705-92A>G | gnomAD v4 |
6 | g.33435060dup | CA1087667909 | SYNGAP1 | c.252-92dup (n.252-92dup) c.510-92dup (n.510-92dup) c.333-92dup (n.333-92dup) c.465-92dup (n.465-92dup) n.705-92dup | gnomAD v3 gnomAD v4 |
6 | g.33435061G>A | CA2578585370 | SYNGAP1 | c.252-91G>A (n.252-91G>A) c.510-91G>A (n.510-91G>A) c.333-91G>A (n.333-91G>A) c.465-91G>A (n.465-91G>A) n.705-91G>A | |
6 | g.33435061G>C | CA2560889710 | SYNGAP1 | c.252-91G>C (n.252-91G>C) c.510-91G>C (n.510-91G>C) c.333-91G>C (n.333-91G>C) c.465-91G>C (n.465-91G>C) n.705-91G>C | gnomAD v4 |
6 | g.33435061G>T | CA2530215282 | SYNGAP1 | c.252-91G>T (n.252-91G>T) c.510-91G>T (n.510-91G>T) c.333-91G>T (n.333-91G>T) c.465-91G>T (n.465-91G>T) n.705-91G>T | gnomAD v4 |
6 | g.33435062A>C | CA2770572173 | SYNGAP1 | c.252-90A>C (n.252-90A>C) c.510-90A>C (n.510-90A>C) c.333-90A>C (n.333-90A>C) c.465-90A>C (n.465-90A>C) n.705-90A>C | |
6 | g.33435062A>G | CA1087667910 | SYNGAP1 | c.252-90A>G (n.252-90A>G) c.510-90A>G (n.510-90A>G) c.333-90A>G (n.333-90A>G) c.465-90A>G (n.465-90A>G) n.705-90A>G | gnomAD v3 gnomAD v4 |
6 | g.33435063G>A | CA1620011244 | SYNGAP1 | c.252-89G>A (n.252-89G>A) c.510-89G>A (n.510-89G>A) c.333-89G>A (n.333-89G>A) c.465-89G>A (n.465-89G>A) n.705-89G>A | dbSNP gnomAD v4 |
6 | g.33435063G= | CA1620011243 | SYNGAP1 | c.252-89G= (n.252-89G=) c.510-89G= (n.510-89G=) c.333-89G= (n.333-89G=) c.465-89G= (n.465-89G=) n.705-89G= | |
6 | g.33435064C>A | CA824051116 | SYNGAP1 | c.252-88C>A (n.252-88C>A) c.510-88C>A (n.510-88C>A) c.333-88C>A (n.333-88C>A) c.465-88C>A (n.465-88C>A) n.705-88C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435064C= | CA1620011245 | SYNGAP1 | c.252-88C= (n.252-88C=) c.510-88C= (n.510-88C=) c.333-88C= (n.333-88C=) c.465-88C= (n.465-88C=) n.705-88C= | |
6 | g.33435064C>G | CA2578585371 | SYNGAP1 | c.252-88C>G (n.252-88C>G) c.510-88C>G (n.510-88C>G) c.333-88C>G (n.333-88C>G) c.465-88C>G (n.465-88C>G) n.705-88C>G | gnomAD v4 |
6 | g.33435064C>T | CA1087667960 | SYNGAP1 | c.252-88C>T (n.252-88C>T) c.510-88C>T (n.510-88C>T) c.333-88C>T (n.333-88C>T) c.465-88C>T (n.465-88C>T) n.705-88C>T | gnomAD v3 gnomAD v4 |
6 | g.33435065A>C | CA2678271723 | SYNGAP1 | c.252-87A>C (n.252-87A>C) c.510-87A>C (n.510-87A>C) c.333-87A>C (n.333-87A>C) c.465-87A>C (n.465-87A>C) n.705-87A>C | gnomAD v4 |
6 | g.33435065A>G | CA1087667963 | SYNGAP1 | c.252-87A>G (n.252-87A>G) c.510-87A>G (n.510-87A>G) c.333-87A>G (n.333-87A>G) c.465-87A>G (n.465-87A>G) n.705-87A>G | gnomAD v3 gnomAD v4 |
6 | g.33435066A>C | CA2678271724 | SYNGAP1 | c.252-86A>C (n.252-86A>C) c.510-86A>C (n.510-86A>C) c.333-86A>C (n.333-86A>C) c.465-86A>C (n.465-86A>C) n.705-86A>C | gnomAD v4 |
6 | g.33435066A>T | CA2678271725 | SYNGAP1 | c.252-86A>T (n.252-86A>T) c.510-86A>T (n.510-86A>T) c.333-86A>T (n.333-86A>T) c.465-86A>T (n.465-86A>T) n.705-86A>T | gnomAD v4 |
6 | g.33435067G>A | CA1087667971 | SYNGAP1 | c.252-85G>A (n.252-85G>A) c.510-85G>A (n.510-85G>A) c.333-85G>A (n.333-85G>A) c.465-85G>A (n.465-85G>A) n.705-85G>A | gnomAD v3 gnomAD v4 |
6 | g.33435068A>C | CA2678271727 | SYNGAP1 | c.252-84A>C (n.252-84A>C) c.510-84A>C (n.510-84A>C) c.333-84A>C (n.333-84A>C) c.465-84A>C (n.465-84A>C) n.705-84A>C | gnomAD v4 |
6 | g.33435068A>G | CA2678271728 | SYNGAP1 | c.252-84A>G (n.252-84A>G) c.510-84A>G (n.510-84A>G) c.333-84A>G (n.333-84A>G) c.465-84A>G (n.465-84A>G) n.705-84A>G | gnomAD v4 |
6 | g.33435068A>T | CA2678271730 | SYNGAP1 | c.252-84A>T (n.252-84A>T) c.510-84A>T (n.510-84A>T) c.333-84A>T (n.333-84A>T) c.465-84A>T (n.465-84A>T) n.705-84A>T | gnomAD v4 |
6 | g.33435069C>A | CA2678271733 | SYNGAP1 | c.252-83C>A (n.252-83C>A) c.510-83C>A (n.510-83C>A) c.333-83C>A (n.333-83C>A) c.465-83C>A (n.465-83C>A) n.705-83C>A | gnomAD v4 |
6 | g.33435069C>T | CA2678271734 | SYNGAP1 | c.252-83C>T (n.252-83C>T) c.510-83C>T (n.510-83C>T) c.333-83C>T (n.333-83C>T) c.465-83C>T (n.465-83C>T) n.705-83C>T | gnomAD v4 |
6 | g.33435069_33435070insCC | CA2578585372 | SYNGAP1 | c.252-83_252-82insCC (n.252-83_252-82insCC) c.510-83_510-82insCC (n.510-83_510-82insCC) c.333-83_333-82insCC (n.333-83_333-82insCC) c.465-83_465-82insCC (n.465-83_465-82insCC) n.705-83_705-82insCC | |
6 | g.33435069_33435070dup | CA1087667975 | SYNGAP1 | c.252-83_252-82dup (n.252-83_252-82dup) c.510-83_510-82dup (n.510-83_510-82dup) c.333-83_333-82dup (n.333-83_333-82dup) c.465-83_465-82dup (n.465-83_465-82dup) n.705-83_705-82dup | gnomAD v3 gnomAD v4 |
6 | g.33435070T>A | CA1087667983 | SYNGAP1 | c.252-82T>A (n.252-82T>A) c.510-82T>A (n.510-82T>A) c.333-82T>A (n.333-82T>A) c.465-82T>A (n.465-82T>A) n.705-82T>A | gnomAD v3 gnomAD v4 |
6 | g.33435070T>G | CA1620011246 | SYNGAP1 | c.252-82T>G (n.252-82T>G) c.510-82T>G (n.510-82T>G) c.333-82T>G (n.333-82T>G) c.465-82T>G (n.465-82T>G) n.705-82T>G | dbSNP |
6 | g.33435070T= | CA1620011247 | SYNGAP1 | c.252-82T= (n.252-82T=) c.510-82T= (n.510-82T=) c.333-82T= (n.333-82T=) c.465-82T= (n.465-82T=) n.705-82T= | |
6 | g.33435071_33435072dup | CA2678271738 | SYNGAP1 | c.252-81_252-80dup (n.252-81_252-80dup) c.510-81_510-80dup (n.510-81_510-80dup) c.333-81_333-80dup (n.333-81_333-80dup) c.465-81_465-80dup (n.465-81_465-80dup) n.705-81_705-80dup | gnomAD v4 |
6 | g.33435070_33435071insCC | CA1087667988 | SYNGAP1 | c.252-82_252-81insCC (n.252-82_252-81insCC) c.510-82_510-81insCC (n.510-82_510-81insCC) c.333-82_333-81insCC (n.333-82_333-81insCC) c.465-82_465-81insCC (n.465-82_465-81insCC) n.705-82_705-81insCC | gnomAD v3 gnomAD v4 |
6 | g.33435071del | CA2770572176 | SYNGAP1 | c.252-81del (n.252-81del) c.510-81del (n.510-81del) c.333-81del (n.333-81del) c.465-81del (n.465-81del) n.705-81del | |
6 | g.33435071G>A | CA1087667990 | SYNGAP1 | c.252-81G>A (n.252-81G>A) c.510-81G>A (n.510-81G>A) c.333-81G>A (n.333-81G>A) c.465-81G>A (n.465-81G>A) n.705-81G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435071G>C | CA1087667992 | SYNGAP1 | c.252-81G>C (n.252-81G>C) c.510-81G>C (n.510-81G>C) c.333-81G>C (n.333-81G>C) c.465-81G>C (n.465-81G>C) n.705-81G>C | gnomAD v3 gnomAD v4 |
6 | g.33435071G= | CA1620011248 | SYNGAP1 | c.252-81G= (n.252-81G=) c.510-81G= (n.510-81G=) c.333-81G= (n.333-81G=) c.465-81G= (n.465-81G=) n.705-81G= | |
6 | g.33435071G>T | CA137097574 | SYNGAP1 | c.252-81G>T (n.252-81G>T) c.510-81G>T (n.510-81G>T) c.333-81G>T (n.333-81G>T) c.465-81G>T (n.465-81G>T) n.705-81G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435072T>A | CA2678271740 | SYNGAP1 | c.252-80T>A (n.252-80T>A) c.510-80T>A (n.510-80T>A) c.333-80T>A (n.333-80T>A) c.465-80T>A (n.465-80T>A) n.705-80T>A | gnomAD v4 |
6 | g.33435072T>G | CA1087667995 | SYNGAP1 | c.252-80T>G (n.252-80T>G) c.510-80T>G (n.510-80T>G) c.333-80T>G (n.333-80T>G) c.465-80T>G (n.465-80T>G) n.705-80T>G | gnomAD v3 gnomAD v4 |
6 | g.33435073del | CA2770572180 | SYNGAP1 | c.252-79del (n.252-79del) c.510-79del (n.510-79del) c.333-79del (n.333-79del) c.465-79del (n.465-79del) n.705-79del | |
6 | g.33435073C>A | CA2532369650 | SYNGAP1 | c.252-79C>A (n.252-79C>A) c.510-79C>A (n.510-79C>A) c.333-79C>A (n.333-79C>A) c.465-79C>A (n.465-79C>A) n.705-79C>A | gnomAD v4 |
6 | g.33435073C= | CA1620011249 | SYNGAP1 | c.252-79C= (n.252-79C=) c.510-79C= (n.510-79C=) c.333-79C= (n.333-79C=) c.465-79C= (n.465-79C=) n.705-79C= | |
6 | g.33435073C>T | CA2578585373 | SYNGAP1 | c.252-79C>T (n.252-79C>T) c.510-79C>T (n.510-79C>T) c.333-79C>T (n.333-79C>T) c.465-79C>T (n.465-79C>T) n.705-79C>T | gnomAD v4 |
6 | g.33435073_33435076delinsCTCA | CA1620011250 | SYNGAP1 | c.252-79_252-76delinsCTCA (n.252-79_252-76delinsCTCA) c.510-79_510-76delinsCTCA (n.510-79_510-76delinsCTCA) c.333-79_333-76delinsCTCA (n.333-79_333-76delinsCTCA) c.465-79_465-76delinsCTCA (n.465-79_465-76delinsCTCA) n.705-79_705-76delinsCTCA | |
6 | g.33435073_33435074insA | CA1620011251 | SYNGAP1 | c.252-79_252-78insA (n.252-79_252-78insA) c.510-79_510-78insA (n.510-79_510-78insA) c.333-79_333-78insA (n.333-79_333-78insA) c.465-79_465-78insA (n.465-79_465-78insA) n.705-79_705-78insA | dbSNP |
6 | g.33435074T>A | CA1087667996 | SYNGAP1 | c.252-78T>A (n.252-78T>A) c.510-78T>A (n.510-78T>A) c.333-78T>A (n.333-78T>A) c.465-78T>A (n.465-78T>A) n.705-78T>A | gnomAD v3 gnomAD v4 |
6 | g.33435074T>C | CA1087667998 | SYNGAP1 | c.252-78T>C (n.252-78T>C) c.510-78T>C (n.510-78T>C) c.333-78T>C (n.333-78T>C) c.465-78T>C (n.465-78T>C) n.705-78T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435074T= | CA1620011253 | SYNGAP1 | c.252-78T= (n.252-78T=) c.510-78T= (n.510-78T=) c.333-78T= (n.333-78T=) c.465-78T= (n.465-78T=) n.705-78T= | |
6 | g.33435074_33435076del | CA1620011252 | SYNGAP1 | c.252-78_252-76del (n.252-78_252-76del) c.510-78_510-76del (n.510-78_510-76del) c.333-78_333-76del (n.333-78_333-76del) c.465-78_465-76del (n.465-78_465-76del) n.705-78_705-76del | dbSNP |
6 | g.33435074_33435075insA | CA1087668016 | SYNGAP1 | c.252-78_252-77insA (n.252-78_252-77insA) c.510-78_510-77insA (n.510-78_510-77insA) c.333-78_333-77insA (n.333-78_333-77insA) c.465-78_465-77insA (n.465-78_465-77insA) n.705-78_705-77insA | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435074_33435075insAA | CA1087668014 | SYNGAP1 | c.252-78_252-77insAA (n.252-78_252-77insAA) c.510-78_510-77insAA (n.510-78_510-77insAA) c.333-78_333-77insAA (n.333-78_333-77insAA) c.465-78_465-77insAA (n.465-78_465-77insAA) n.705-78_705-77insAA | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435075C>A | CA650844267 | SYNGAP1 | c.252-77C>A (n.252-77C>A) c.510-77C>A (n.510-77C>A) c.333-77C>A (n.333-77C>A) c.465-77C>A (n.465-77C>A) n.705-77C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435075C= | CA1620011254 | SYNGAP1 | c.252-77C= (n.252-77C=) c.510-77C= (n.510-77C=) c.333-77C= (n.333-77C=) c.465-77C= (n.465-77C=) n.705-77C= | |
6 | g.33435075C>G | CA1087668015 | SYNGAP1 | c.252-77C>G (n.252-77C>G) c.510-77C>G (n.510-77C>G) c.333-77C>G (n.333-77C>G) c.465-77C>G (n.465-77C>G) n.705-77C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435075C>T | CA2678271755 | SYNGAP1 | c.252-77C>T (n.252-77C>T) c.510-77C>T (n.510-77C>T) c.333-77C>T (n.333-77C>T) c.465-77C>T (n.465-77C>T) n.705-77C>T | gnomAD v4 |
6 | g.33435075_33435086dup | CA2770572182 | SYNGAP1 | c.252-77_252-66dup (n.252-77_252-66dup) c.510-77_510-66dup (n.510-77_510-66dup) c.333-77_333-66dup (n.333-77_333-66dup) c.465-77_465-66dup (n.465-77_465-66dup) n.705-77_705-66dup | |
6 | g.33435075_33435091delinsCAAAAAAAAAAAAAAAA | CA1620011255 | SYNGAP1 | c.252-77_252-61delinsCAAAAAAAAAAAAAAAA (n.252-77_252-61delinsCAAAAAAAAAAAAAAAA) c.510-77_510-61delinsCAAAAAAAAAAAAAAAA (n.510-77_510-61delinsCAAAAAAAAAAAAAAAA) c.333-77_333-61delinsCAAAAAAAAAAAAAAAA (n.333-77_333-61delinsCAAAAAAAAAAAAAAAA) c.465-77_465-61delinsCAAAAAAAAAAAAAAAA (n.465-77_465-61delinsCAAAAAAAAAAAAAAAA) n.705-77_705-61delinsCAAAAAAAAAAAAAAAA | |
6 | g.33435075_33435076insCA | CA2678271879 | SYNGAP1 | c.252-77_252-76insCA (n.252-77_252-76insCA) c.510-77_510-76insCA (n.510-77_510-76insCA) c.333-77_333-76insCA (n.333-77_333-76insCA) c.465-77_465-76insCA (n.465-77_465-76insCA) n.705-77_705-76insCA | gnomAD v4 |
6 | g.33435075_33435076insTAA | CA1087668058 | SYNGAP1 | c.252-77_252-76insTAA (n.252-77_252-76insTAA) c.510-77_510-76insTAA (n.510-77_510-76insTAA) c.333-77_333-76insTAA (n.333-77_333-76insTAA) c.465-77_465-76insTAA (n.465-77_465-76insTAA) n.705-77_705-76insTAA | gnomAD v3 gnomAD v4 |
6 | g.33435075_33435076insCAAAA | CA2678271882 | SYNGAP1 | c.252-77_252-76insCAAAA (n.252-77_252-76insCAAAA) c.510-77_510-76insCAAAA (n.510-77_510-76insCAAAA) c.333-77_333-76insCAAAA (n.333-77_333-76insCAAAA) c.465-77_465-76insCAAAA (n.465-77_465-76insCAAAA) n.705-77_705-76insCAAAA | gnomAD v4 |
6 | g.33435076A= | CA1620011256 | SYNGAP1 | c.252-76A= (n.252-76A=) c.510-76A= (n.510-76A=) c.333-76A= (n.333-76A=) c.465-76A= (n.465-76A=) n.705-76A= | |
6 | g.33435076A>C | CA1620011257 | SYNGAP1 | c.252-76A>C (n.252-76A>C) c.510-76A>C (n.510-76A>C) c.333-76A>C (n.333-76A>C) c.465-76A>C (n.465-76A>C) n.705-76A>C | dbSNP gnomAD v4 |
6 | g.33435076A>T | CA2678271911 | SYNGAP1 | c.252-76A>T (n.252-76A>T) c.510-76A>T (n.510-76A>T) c.333-76A>T (n.333-76A>T) c.465-76A>T (n.465-76A>T) n.705-76A>T | gnomAD v4 |
6 | g.33435076_33435077insTA | CA2678271878 | SYNGAP1 | c.252-76_252-75insTA (n.252-76_252-75insTA) c.510-76_510-75insTA (n.510-76_510-75insTA) c.333-76_333-75insTA (n.333-76_333-75insTA) c.465-76_465-75insTA (n.465-76_465-75insTA) n.705-76_705-75insTA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271952 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668124 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668078 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668079 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271961 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668046 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668049 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271974 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271914 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271916 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271856 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271861 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271864 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1087668056 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271869 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271871 | SYNGAP1 | c.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099_33435100insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2678271873 | SYNGAP1 | c.252-53_252-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.252-53_252-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.510-53_510-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.510-53_510-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.333-53_333-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.333-53_333-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.465-53_465-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.465-53_465-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.705-53_705-52insAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
6 | g.33435099dup | CA137097579 | SYNGAP1 | c.252-53dup (n.252-53dup) c.510-53dup (n.510-53dup) c.333-53dup (n.333-53dup) c.465-53dup (n.465-53dup) n.705-53dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33435098_33435099dup | CA566431028 | SYNGAP1 | c.252-54_252-53dup (n.252-54_252-53dup) c.510-54_510-53dup (n.510-54_510-53dup) c.333-54_333-53dup (n.333-54_333-53dup) c.465-54_465-53dup (n.465-54_465-53dup) n.705-54_705-53dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435097_33435099dup | CA566431029 | SYNGAP1 | c.252-55_252-53dup (n.252-55_252-53dup) c.510-55_510-53dup (n.510-55_510-53dup) c.333-55_333-53dup (n.333-55_333-53dup) c.465-55_465-53dup (n.465-55_465-53dup) n.705-55_705-53dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435096_33435099dup | CA566431030 | SYNGAP1 | c.252-56_252-53dup (n.252-56_252-53dup) c.510-56_510-53dup (n.510-56_510-53dup) c.333-56_333-53dup (n.333-56_333-53dup) c.465-56_465-53dup (n.465-56_465-53dup) n.705-56_705-53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435095_33435099dup | CA566431031 | SYNGAP1 | c.252-57_252-53dup (n.252-57_252-53dup) c.510-57_510-53dup (n.510-57_510-53dup) c.333-57_333-53dup (n.333-57_333-53dup) c.465-57_465-53dup (n.465-57_465-53dup) n.705-57_705-53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435094_33435099dup | CA1087668085 | SYNGAP1 | c.252-58_252-53dup (n.252-58_252-53dup) c.510-58_510-53dup (n.510-58_510-53dup) c.333-58_333-53dup (n.333-58_333-53dup) c.465-58_465-53dup (n.465-58_465-53dup) n.705-58_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435093_33435099dup | CA1087668097 | SYNGAP1 | c.252-59_252-53dup (n.252-59_252-53dup) c.510-59_510-53dup (n.510-59_510-53dup) c.333-59_333-53dup (n.333-59_333-53dup) c.465-59_465-53dup (n.465-59_465-53dup) n.705-59_705-53dup | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435092_33435099dup | CA1087668102 | SYNGAP1 | c.252-60_252-53dup (n.252-60_252-53dup) c.510-60_510-53dup (n.510-60_510-53dup) c.333-60_333-53dup (n.333-60_333-53dup) c.465-60_465-53dup (n.465-60_465-53dup) n.705-60_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435091_33435099dup | CA1087668125 | SYNGAP1 | c.252-61_252-53dup (n.252-61_252-53dup) c.510-61_510-53dup (n.510-61_510-53dup) c.333-61_333-53dup (n.333-61_333-53dup) c.465-61_465-53dup (n.465-61_465-53dup) n.705-61_705-53dup | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435090_33435099dup | CA2594877808 | SYNGAP1 | c.252-62_252-53dup (n.252-62_252-53dup) c.510-62_510-53dup (n.510-62_510-53dup) c.333-62_333-53dup (n.333-62_333-53dup) c.465-62_465-53dup (n.465-62_465-53dup) n.705-62_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435089_33435099dup | CA2524620678 | SYNGAP1 | c.252-63_252-53dup (n.252-63_252-53dup) c.510-63_510-53dup (n.510-63_510-53dup) c.333-63_333-53dup (n.333-63_333-53dup) c.465-63_465-53dup (n.465-63_465-53dup) n.705-63_705-53dup | gnomAD v4 |
6 | g.33435088_33435099dup | CA1087668103 | SYNGAP1 | c.252-64_252-53dup (n.252-64_252-53dup) c.510-64_510-53dup (n.510-64_510-53dup) c.333-64_333-53dup (n.333-64_333-53dup) c.465-64_465-53dup (n.465-64_465-53dup) n.705-64_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435087_33435099dup | CA2678271939 | SYNGAP1 | c.252-65_252-53dup (n.252-65_252-53dup) c.510-65_510-53dup (n.510-65_510-53dup) c.333-65_333-53dup (n.333-65_333-53dup) c.465-65_465-53dup (n.465-65_465-53dup) n.705-65_705-53dup | gnomAD v4 |
6 | g.33435085_33435099dup | CA2678271967 | SYNGAP1 | c.252-67_252-53dup (n.252-67_252-53dup) c.510-67_510-53dup (n.510-67_510-53dup) c.333-67_333-53dup (n.333-67_333-53dup) c.465-67_465-53dup (n.465-67_465-53dup) n.705-67_705-53dup | gnomAD v4 |
6 | g.33435084_33435099dup | CA1087668105 | SYNGAP1 | c.252-68_252-53dup (n.252-68_252-53dup) c.510-68_510-53dup (n.510-68_510-53dup) c.333-68_333-53dup (n.333-68_333-53dup) c.465-68_465-53dup (n.465-68_465-53dup) n.705-68_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435083_33435099dup | CA1087668108 | SYNGAP1 | c.252-69_252-53dup (n.252-69_252-53dup) c.510-69_510-53dup (n.510-69_510-53dup) c.333-69_333-53dup (n.333-69_333-53dup) c.465-69_465-53dup (n.465-69_465-53dup) n.705-69_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435082_33435099dup | CA2678271941 | SYNGAP1 | c.252-70_252-53dup (n.252-70_252-53dup) c.510-70_510-53dup (n.510-70_510-53dup) c.333-70_333-53dup (n.333-70_333-53dup) c.465-70_465-53dup (n.465-70_465-53dup) n.705-70_705-53dup | gnomAD v4 |
6 | g.33435081_33435099dup | CA1087668109 | SYNGAP1 | c.252-71_252-53dup (n.252-71_252-53dup) c.510-71_510-53dup (n.510-71_510-53dup) c.333-71_333-53dup (n.333-71_333-53dup) c.465-71_465-53dup (n.465-71_465-53dup) n.705-71_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435080_33435099dup | CA1087668114 | SYNGAP1 | c.252-72_252-53dup (n.252-72_252-53dup) c.510-72_510-53dup (n.510-72_510-53dup) c.333-72_333-53dup (n.333-72_333-53dup) c.465-72_465-53dup (n.465-72_465-53dup) n.705-72_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435079_33435099dup | CA1087668120 | SYNGAP1 | c.252-73_252-53dup (n.252-73_252-53dup) c.510-73_510-53dup (n.510-73_510-53dup) c.333-73_333-53dup (n.333-73_333-53dup) c.465-73_465-53dup (n.465-73_465-53dup) n.705-73_705-53dup | gnomAD v3 gnomAD v4 |
6 | g.33435077_33435099dup | CA2678271947 | SYNGAP1 | c.252-75_252-53dup (n.252-75_252-53dup) c.510-75_510-53dup (n.510-75_510-53dup) c.333-75_333-53dup (n.333-75_333-53dup) c.465-75_465-53dup (n.465-75_465-53dup) n.705-75_705-53dup | gnomAD v4 |
6 | g.33435099del | CA824051132 | SYNGAP1 | c.252-53del (n.252-53del) c.510-53del (n.510-53del) c.333-53del (n.333-53del) c.465-53del (n.465-53del) n.705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435098_33435099del | CA824051146 | SYNGAP1 | c.252-54_252-53del (n.252-54_252-53del) c.510-54_510-53del (n.510-54_510-53del) c.333-54_333-53del (n.333-54_333-53del) c.465-54_465-53del (n.465-54_465-53del) n.705-54_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435097_33435099del | CA1087668062 | SYNGAP1 | c.252-55_252-53del (n.252-55_252-53del) c.510-55_510-53del (n.510-55_510-53del) c.333-55_333-53del (n.333-55_333-53del) c.465-55_465-53del (n.465-55_465-53del) n.705-55_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435096_33435099del | CA824051148 | SYNGAP1 | c.252-56_252-53del (n.252-56_252-53del) c.510-56_510-53del (n.510-56_510-53del) c.333-56_333-53del (n.333-56_333-53del) c.465-56_465-53del (n.465-56_465-53del) n.705-56_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435095_33435099del | CA1087668067 | SYNGAP1 | c.252-57_252-53del (n.252-57_252-53del) c.510-57_510-53del (n.510-57_510-53del) c.333-57_333-53del (n.333-57_333-53del) c.465-57_465-53del (n.465-57_465-53del) n.705-57_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435094_33435099del | CA824051151 | SYNGAP1 | c.252-58_252-53del (n.252-58_252-53del) c.510-58_510-53del (n.510-58_510-53del) c.333-58_333-53del (n.333-58_333-53del) c.465-58_465-53del (n.465-58_465-53del) n.705-58_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435093_33435099del | CA824051153 | SYNGAP1 | c.252-59_252-53del (n.252-59_252-53del) c.510-59_510-53del (n.510-59_510-53del) c.333-59_333-53del (n.333-59_333-53del) c.465-59_465-53del (n.465-59_465-53del) n.705-59_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435092_33435099del | CA824051166 | SYNGAP1 | c.252-60_252-53del (n.252-60_252-53del) c.510-60_510-53del (n.510-60_510-53del) c.333-60_333-53del (n.333-60_333-53del) c.465-60_465-53del (n.465-60_465-53del) n.705-60_705-53del | dbSNP gnomAD v4 |
6 | g.33435091_33435099del | CA137097577 | SYNGAP1 | c.252-61_252-53del (n.252-61_252-53del) c.510-61_510-53del (n.510-61_510-53del) c.333-61_333-53del (n.333-61_333-53del) c.465-61_465-53del (n.465-61_465-53del) n.705-61_705-53del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435090_33435099del | CA824051143 | SYNGAP1 | c.252-62_252-53del (n.252-62_252-53del) c.510-62_510-53del (n.510-62_510-53del) c.333-62_333-53del (n.333-62_333-53del) c.465-62_465-53del (n.465-62_465-53del) n.705-62_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435089_33435099del | CA824051141 | SYNGAP1 | c.252-63_252-53del (n.252-63_252-53del) c.510-63_510-53del (n.510-63_510-53del) c.333-63_333-53del (n.333-63_333-53del) c.465-63_465-53del (n.465-63_465-53del) n.705-63_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435088_33435099del | CA824051140 | SYNGAP1 | c.252-64_252-53del (n.252-64_252-53del) c.510-64_510-53del (n.510-64_510-53del) c.333-64_333-53del (n.333-64_333-53del) c.465-64_465-53del (n.465-64_465-53del) n.705-64_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435087_33435099del | CA1087668072 | SYNGAP1 | c.252-65_252-53del (n.252-65_252-53del) c.510-65_510-53del (n.510-65_510-53del) c.333-65_333-53del (n.333-65_333-53del) c.465-65_465-53del (n.465-65_465-53del) n.705-65_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435086_33435099del | CA824051138 | SYNGAP1 | c.252-66_252-53del (n.252-66_252-53del) c.510-66_510-53del (n.510-66_510-53del) c.333-66_333-53del (n.333-66_333-53del) c.465-66_465-53del (n.465-66_465-53del) n.705-66_705-53del | dbSNP |
6 | g.33435084_33435099del | CA824051136 | SYNGAP1 | c.252-68_252-53del (n.252-68_252-53del) c.510-68_510-53del (n.510-68_510-53del) c.333-68_333-53del (n.333-68_333-53del) c.465-68_465-53del (n.465-68_465-53del) n.705-68_705-53del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435080_33435099del | CA2678271907 | SYNGAP1 | c.252-72_252-53del (n.252-72_252-53del) c.510-72_510-53del (n.510-72_510-53del) c.333-72_333-53del (n.333-72_333-53del) c.465-72_465-53del (n.465-72_465-53del) n.705-72_705-53del | gnomAD v4 |
6 | g.33435100_33435101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2678271858 | SYNGAP1 | c.252-52_252-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.252-52_252-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.510-52_510-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.510-52_510-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.333-52_333-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.333-52_333-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.465-52_465-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.465-52_465-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) n.705-52_705-51insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | gnomAD v4 |
6 | g.33435076_33435077insC | CA2770572223 | SYNGAP1 | c.252-76_252-75insC (n.252-76_252-75insC) c.510-76_510-75insC (n.510-76_510-75insC) c.333-76_333-75insC (n.333-76_333-75insC) c.465-76_465-75insC (n.465-76_465-75insC) n.705-76_705-75insC | |
6 | g.33435076_33435077insT | CA2678271986 | SYNGAP1 | c.252-76_252-75insT (n.252-76_252-75insT) c.510-76_510-75insT (n.510-76_510-75insT) c.333-76_333-75insT (n.333-76_333-75insT) c.465-76_465-75insT (n.465-76_465-75insT) n.705-76_705-75insT | gnomAD v4 |
6 | g.33435077A>C | CA2770572225 | SYNGAP1 | c.252-75A>C (n.252-75A>C) c.510-75A>C (n.510-75A>C) c.333-75A>C (n.333-75A>C) c.465-75A>C (n.465-75A>C) n.705-75A>C | |
6 | g.33435077A>T | CA2678271987 | SYNGAP1 | c.252-75A>T (n.252-75A>T) c.510-75A>T (n.510-75A>T) c.333-75A>T (n.333-75A>T) c.465-75A>T (n.465-75A>T) n.705-75A>T | gnomAD v4 |
6 | g.33435077_33435078insCA | CA2678271989 | SYNGAP1 | c.252-75_252-74insCA (n.252-75_252-74insCA) c.510-75_510-74insCA (n.510-75_510-74insCA) c.333-75_333-74insCA (n.333-75_333-74insCA) c.465-75_465-74insCA (n.465-75_465-74insCA) n.705-75_705-74insCA | gnomAD v4 |
6 | g.33435077_33435078insGA | CA2770572222 | SYNGAP1 | c.252-75_252-74insGA (n.252-75_252-74insGA) c.510-75_510-74insGA (n.510-75_510-74insGA) c.333-75_333-74insGA (n.333-75_333-74insGA) c.465-75_465-74insGA (n.465-75_465-74insGA) n.705-75_705-74insGA | |
6 | g.33435078_33435079insCAA | CA2740733581 | SYNGAP1 | c.252-74_252-73insCAA (n.252-74_252-73insCAA) c.510-74_510-73insCAA (n.510-74_510-73insCAA) c.333-74_333-73insCAA (n.333-74_333-73insCAA) c.465-74_465-73insCAA (n.465-74_465-73insCAA) n.705-74_705-73insCAA | |
6 | g.33435078_33435079insGAA | CA2770572220 | SYNGAP1 | c.252-74_252-73insGAA (n.252-74_252-73insGAA) c.510-74_510-73insGAA (n.510-74_510-73insGAA) c.333-74_333-73insGAA (n.333-74_333-73insGAA) c.465-74_465-73insGAA (n.465-74_465-73insGAA) n.705-74_705-73insGAA | |
6 | g.33435077_33435078insG | CA2678271992 | SYNGAP1 | c.252-75_252-74insG (n.252-75_252-74insG) c.510-75_510-74insG (n.510-75_510-74insG) c.333-75_333-74insG (n.333-75_333-74insG) c.465-75_465-74insG (n.465-75_465-74insG) n.705-75_705-74insG | gnomAD v4 |
6 | g.33435078_33435079insGA | CA2770572229 | SYNGAP1 | c.252-74_252-73insGA (n.252-74_252-73insGA) c.510-74_510-73insGA (n.510-74_510-73insGA) c.333-74_333-73insGA (n.333-74_333-73insGA) c.465-74_465-73insGA (n.465-74_465-73insGA) n.705-74_705-73insGA | |
6 | g.33435080_33435081insCAAA | CA2770572227 | SYNGAP1 | c.252-72_252-71insCAAA (n.252-72_252-71insCAAA) c.510-72_510-71insCAAA (n.510-72_510-71insCAAA) c.333-72_333-71insCAAA (n.333-72_333-71insCAAA) c.465-72_465-71insCAAA (n.465-72_465-71insCAAA) n.705-72_705-71insCAAA | |
6 | g.33435078_33435079insC | CA566431032 | SYNGAP1 | c.252-74_252-73insC (n.252-74_252-73insC) c.510-74_510-73insC (n.510-74_510-73insC) c.333-74_333-73insC (n.333-74_333-73insC) c.465-74_465-73insC (n.465-74_465-73insC) n.705-74_705-73insC | gnomAD v2 |
6 | g.33435079A>T | CA2678271999 | SYNGAP1 | c.252-73A>T (n.252-73A>T) c.510-73A>T (n.510-73A>T) c.333-73A>T (n.333-73A>T) c.465-73A>T (n.465-73A>T) n.705-73A>T | gnomAD v4 |
6 | g.33435085A= | CA1620011258 | SYNGAP1 | c.252-67A= (n.252-67A=) c.510-67A= (n.510-67A=) c.333-67A= (n.333-67A=) c.465-67A= (n.465-67A=) n.705-67A= | |
6 | g.33435085A>G | CA2678272002 | SYNGAP1 | c.252-67A>G (n.252-67A>G) c.510-67A>G (n.510-67A>G) c.333-67A>G (n.333-67A>G) c.465-67A>G (n.465-67A>G) n.705-67A>G | gnomAD v4 |
6 | g.33435085_33435086insGA | CA2678272001 | SYNGAP1 | c.252-67_252-66insGA (n.252-67_252-66insGA) c.510-67_510-66insGA (n.510-67_510-66insGA) c.333-67_333-66insGA (n.333-67_333-66insGA) c.465-67_465-66insGA (n.465-67_465-66insGA) n.705-67_705-66insGA | gnomAD v4 |
6 | g.33435085_33435086insG | CA566700421 | SYNGAP1 | c.252-67_252-66insG (n.252-67_252-66insG) c.510-67_510-66insG (n.510-67_510-66insG) c.333-67_333-66insG (n.333-67_333-66insG) c.465-67_465-66insG (n.465-67_465-66insG) n.705-67_705-66insG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435086A>G | CA2553433338 | SYNGAP1 | c.252-66A>G (n.252-66A>G) c.510-66A>G (n.510-66A>G) c.333-66A>G (n.333-66A>G) c.465-66A>G (n.465-66A>G) n.705-66A>G | gnomAD v4 |
6 | g.33435086_33435087insGA | CA2678272005 | SYNGAP1 | c.252-66_252-65insGA (n.252-66_252-65insGA) c.510-66_510-65insGA (n.510-66_510-65insGA) c.333-66_333-65insGA (n.333-66_333-65insGA) c.465-66_465-65insGA (n.465-66_465-65insGA) n.705-66_705-65insGA | gnomAD v4 |
6 | g.33435086_33435087insT | CA2678272012 | SYNGAP1 | c.252-66_252-65insT (n.252-66_252-65insT) c.510-66_510-65insT (n.510-66_510-65insT) c.333-66_333-65insT (n.333-66_333-65insT) c.465-66_465-65insT (n.465-66_465-65insT) n.705-66_705-65insT | gnomAD v4 |
6 | g.33435087A>G | CA2533770640 | SYNGAP1 | c.252-65A>G (n.252-65A>G) c.510-65A>G (n.510-65A>G) c.333-65A>G (n.333-65A>G) c.465-65A>G (n.465-65A>G) n.705-65A>G | gnomAD v4 |
6 | g.33435087_33435088insGA | CA2678272010 | SYNGAP1 | c.252-65_252-64insGA (n.252-65_252-64insGA) c.510-65_510-64insGA (n.510-65_510-64insGA) c.333-65_333-64insGA (n.333-65_333-64insGA) c.465-65_465-64insGA (n.465-65_465-64insGA) n.705-65_705-64insGA | gnomAD v4 |
6 | g.33435088A= | CA1620011259 | SYNGAP1 | c.252-64A= (n.252-64A=) c.510-64A= (n.510-64A=) c.333-64A= (n.333-64A=) c.465-64A= (n.465-64A=) n.705-64A= | |
6 | g.33435088A>G | CA1620011260 | SYNGAP1 | c.252-64A>G (n.252-64A>G) c.510-64A>G (n.510-64A>G) c.333-64A>G (n.333-64A>G) c.465-64A>G (n.465-64A>G) n.705-64A>G | dbSNP |
6 | g.33435088_33435089insGA | CA2770572231 | SYNGAP1 | c.252-64_252-63insGA (n.252-64_252-63insGA) c.510-64_510-63insGA (n.510-64_510-63insGA) c.333-64_333-63insGA (n.333-64_333-63insGA) c.465-64_465-63insGA (n.465-64_465-63insGA) n.705-64_705-63insGA | |
6 | g.33435088_33435089insTA | CA2678272016 | SYNGAP1 | c.252-64_252-63insTA (n.252-64_252-63insTA) c.510-64_510-63insTA (n.510-64_510-63insTA) c.333-64_333-63insTA (n.333-64_333-63insTA) c.465-64_465-63insTA (n.465-64_465-63insTA) n.705-64_705-63insTA | gnomAD v4 |
6 | g.33435088_33435100del | CA2678272017 | SYNGAP1 | c.252-64_252-52del (n.252-64_252-52del) c.510-64_510-52del (n.510-64_510-52del) c.333-64_333-52del (n.333-64_333-52del) c.465-64_465-52del (n.465-64_465-52del) n.705-64_705-52del | gnomAD v4 |
6 | g.33435089A= | CA1620011262 | SYNGAP1 | c.252-63A= (n.252-63A=) c.510-63A= (n.510-63A=) c.333-63A= (n.333-63A=) c.465-63A= (n.465-63A=) n.705-63A= | |
6 | g.33435089_33435090insGA | CA1620011263 | SYNGAP1 | c.252-63_252-62insGA (n.252-63_252-62insGA) c.510-63_510-62insGA (n.510-63_510-62insGA) c.333-63_333-62insGA (n.333-63_333-62insGA) c.465-63_465-62insGA (n.465-63_465-62insGA) n.705-63_705-62insGA | dbSNP gnomAD v4 |
6 | g.33435099_33435100insAAACAAAAAAAAAAA | CA2678272020 | SYNGAP1 | c.252-53_252-52insAAACAAAAAAAAAAA (n.252-53_252-52insAAACAAAAAAAAAAA) c.510-53_510-52insAAACAAAAAAAAAAA (n.510-53_510-52insAAACAAAAAAAAAAA) c.333-53_333-52insAAACAAAAAAAAAAA (n.333-53_333-52insAAACAAAAAAAAAAA) c.465-53_465-52insAAACAAAAAAAAAAA (n.465-53_465-52insAAACAAAAAAAAAAA) n.705-53_705-52insAAACAAAAAAAAAAA | gnomAD v4 |
6 | g.33435089_33435100delinsAAAAAAAAAAAG | CA1620011261 | SYNGAP1 | c.252-63_252-52delinsAAAAAAAAAAAG (n.252-63_252-52delinsAAAAAAAAAAAG) c.510-63_510-52delinsAAAAAAAAAAAG (n.510-63_510-52delinsAAAAAAAAAAAG) c.333-63_333-52delinsAAAAAAAAAAAG (n.333-63_333-52delinsAAAAAAAAAAAG) c.465-63_465-52delinsAAAAAAAAAAAG (n.465-63_465-52delinsAAAAAAAAAAAG) n.705-63_705-52delinsAAAAAAAAAAAG | |
6 | g.33435089_33435090insG | CA137097581 | SYNGAP1 | c.252-63_252-62insG (n.252-63_252-62insG) c.510-63_510-62insG (n.510-63_510-62insG) c.333-63_333-62insG (n.333-63_333-62insG) c.465-63_465-62insG (n.465-63_465-62insG) n.705-63_705-62insG | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435090_33435100del | CA1620011264 | SYNGAP1 | c.252-62_252-52del (n.252-62_252-52del) c.510-62_510-52del (n.510-62_510-52del) c.333-62_333-52del (n.333-62_333-52del) c.465-62_465-52del (n.465-62_465-52del) n.705-62_705-52del | dbSNP gnomAD v4 |
6 | g.33435091A= | CA1620011265 | SYNGAP1 | c.252-61A= (n.252-61A=) c.510-61A= (n.510-61A=) c.333-61A= (n.333-61A=) c.465-61A= (n.465-61A=) n.705-61A= | |
6 | g.33435091_33435100del | CA2678272067 | SYNGAP1 | c.252-61_252-52del (n.252-61_252-52del) c.510-61_510-52del (n.510-61_510-52del) c.333-61_333-52del (n.333-61_333-52del) c.465-61_465-52del (n.465-61_465-52del) n.705-61_705-52del | gnomAD v4 |
6 | g.33435091_33435092insG | CA2678272075 | SYNGAP1 | c.252-61_252-60insG (n.252-61_252-60insG) c.510-61_510-60insG (n.510-61_510-60insG) c.333-61_333-60insG (n.333-61_333-60insG) c.465-61_465-60insG (n.465-61_465-60insG) n.705-61_705-60insG | gnomAD v4 |
6 | g.33435092A= | CA1620011267 | SYNGAP1 | c.252-60A= (n.252-60A=) c.510-60A= (n.510-60A=) c.333-60A= (n.333-60A=) c.465-60A= (n.465-60A=) n.705-60A= | |
6 | g.33435092A>G | CA1087668136 | SYNGAP1 | c.252-60A>G (n.252-60A>G) c.510-60A>G (n.510-60A>G) c.333-60A>G (n.333-60A>G) c.465-60A>G (n.465-60A>G) n.705-60A>G | gnomAD v3 gnomAD v4 |
6 | g.33435092_33435093insGA | CA1620011266 | SYNGAP1 | c.252-60_252-59insGA (n.252-60_252-59insGA) c.510-60_510-59insGA (n.510-60_510-59insGA) c.333-60_333-59insGA (n.333-60_333-59insGA) c.465-60_465-59insGA (n.465-60_465-59insGA) n.705-60_705-59insGA | dbSNP gnomAD v4 |
6 | g.33435092_33435100del | CA2678272077 | SYNGAP1 | c.252-60_252-52del (n.252-60_252-52del) c.510-60_510-52del (n.510-60_510-52del) c.333-60_333-52del (n.333-60_333-52del) c.465-60_465-52del (n.465-60_465-52del) n.705-60_705-52del | gnomAD v4 |
6 | g.33435092_33435093insC | CA2594877809 | SYNGAP1 | c.252-60_252-59insC (n.252-60_252-59insC) c.510-60_510-59insC (n.510-60_510-59insC) c.333-60_333-59insC (n.333-60_333-59insC) c.465-60_465-59insC (n.465-60_465-59insC) n.705-60_705-59insC | gnomAD v3 gnomAD v4 |
6 | g.33435092_33435093insG | CA1620011268 | SYNGAP1 | c.252-60_252-59insG (n.252-60_252-59insG) c.510-60_510-59insG (n.510-60_510-59insG) c.333-60_333-59insG (n.333-60_333-59insG) c.465-60_465-59insG (n.465-60_465-59insG) n.705-60_705-59insG | dbSNP |
6 | g.33435094_33435095insGAA | CA2678272082 | SYNGAP1 | c.252-58_252-57insGAA (n.252-58_252-57insGAA) c.510-58_510-57insGAA (n.510-58_510-57insGAA) c.333-58_333-57insGAA (n.333-58_333-57insGAA) c.465-58_465-57insGAA (n.465-58_465-57insGAA) n.705-58_705-57insGAA | gnomAD v4 |
6 | g.33435093_33435100del | CA2678272084 | SYNGAP1 | c.252-59_252-52del (n.252-59_252-52del) c.510-59_510-52del (n.510-59_510-52del) c.333-59_333-52del (n.333-59_333-52del) c.465-59_465-52del (n.465-59_465-52del) n.705-59_705-52del | gnomAD v4 |
6 | g.33435093_33435100delinsAAAAAAAG | CA1620011269 | SYNGAP1 | c.252-59_252-52delinsAAAAAAAG (n.252-59_252-52delinsAAAAAAAG) c.510-59_510-52delinsAAAAAAAG (n.510-59_510-52delinsAAAAAAAG) c.333-59_333-52delinsAAAAAAAG (n.333-59_333-52delinsAAAAAAAG) c.465-59_465-52delinsAAAAAAAG (n.465-59_465-52delinsAAAAAAAG) n.705-59_705-52delinsAAAAAAAG | |
6 | g.33435094A>T | CA2678272086 | SYNGAP1 | c.252-58A>T (n.252-58A>T) c.510-58A>T (n.510-58A>T) c.333-58A>T (n.333-58A>T) c.465-58A>T (n.465-58A>T) n.705-58A>T | gnomAD v4 |
6 | g.33435094_33435100del | CA824051174 | SYNGAP1 | c.252-58_252-52del (n.252-58_252-52del) c.510-58_510-52del (n.510-58_510-52del) c.333-58_333-52del (n.333-58_333-52del) c.465-58_465-52del (n.465-58_465-52del) n.705-58_705-52del | dbSNP gnomAD v4 |
6 | g.33435094_33435095insT | CA2678272087 | SYNGAP1 | c.252-58_252-57insT (n.252-58_252-57insT) c.510-58_510-57insT (n.510-58_510-57insT) c.333-58_333-57insT (n.333-58_333-57insT) c.465-58_465-57insT (n.465-58_465-57insT) n.705-58_705-57insT | gnomAD v4 |
6 | g.33435095A= | CA1620011270 | SYNGAP1 | c.252-57A= (n.252-57A=) c.510-57A= (n.510-57A=) c.333-57A= (n.333-57A=) c.465-57A= (n.465-57A=) n.705-57A= | |
6 | g.33435095A>G | CA1087668138 | SYNGAP1 | c.252-57A>G (n.252-57A>G) c.510-57A>G (n.510-57A>G) c.333-57A>G (n.333-57A>G) c.465-57A>G (n.465-57A>G) n.705-57A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435095_33435100del | CA2578585374 | SYNGAP1 | c.252-57_252-52del (n.252-57_252-52del) c.510-57_510-52del (n.510-57_510-52del) c.333-57_333-52del (n.333-57_333-52del) c.465-57_465-52del (n.465-57_465-52del) n.705-57_705-52del | gnomAD v4 |
6 | g.33435096A= | CA1620011271 | SYNGAP1 | c.252-56A= (n.252-56A=) c.510-56A= (n.510-56A=) c.333-56A= (n.333-56A=) c.465-56A= (n.465-56A=) n.705-56A= | |
6 | g.33435096_33435100del | CA2578585375 | SYNGAP1 | c.252-56_252-52del (n.252-56_252-52del) c.510-56_510-52del (n.510-56_510-52del) c.333-56_333-52del (n.333-56_333-52del) c.465-56_465-52del (n.465-56_465-52del) n.705-56_705-52del | gnomAD v4 |
6 | g.33435097A>T | CA2678272090 | SYNGAP1 | c.252-55A>T (n.252-55A>T) c.510-55A>T (n.510-55A>T) c.333-55A>T (n.333-55A>T) c.465-55A>T (n.465-55A>T) n.705-55A>T | gnomAD v4 |
6 | g.33435097_33435098insGA | CA1087668140 | SYNGAP1 | c.252-55_252-54insGA (n.252-55_252-54insGA) c.510-55_510-54insGA (n.510-55_510-54insGA) c.333-55_333-54insGA (n.333-55_333-54insGA) c.465-55_465-54insGA (n.465-55_465-54insGA) n.705-55_705-54insGA | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAAAAACAAA | CA2678272088 | SYNGAP1 | c.252-53_252-52insAAAAACAAA (n.252-53_252-52insAAAAACAAA) c.510-53_510-52insAAAAACAAA (n.510-53_510-52insAAAAACAAA) c.333-53_333-52insAAAAACAAA (n.333-53_333-52insAAAAACAAA) c.465-53_465-52insAAAAACAAA (n.465-53_465-52insAAAAACAAA) n.705-53_705-52insAAAAACAAA | gnomAD v4 |
6 | g.33435097_33435100del | CA2578585376 | SYNGAP1 | c.252-55_252-52del (n.252-55_252-52del) c.510-55_510-52del (n.510-55_510-52del) c.333-55_333-52del (n.333-55_333-52del) c.465-55_465-52del (n.465-55_465-52del) n.705-55_705-52del | gnomAD v4 |
6 | g.33435097_33435100delinsAAAG | CA1620011272 | SYNGAP1 | c.252-55_252-52delinsAAAG (n.252-55_252-52delinsAAAG) c.510-55_510-52delinsAAAG (n.510-55_510-52delinsAAAG) c.333-55_333-52delinsAAAG (n.333-55_333-52delinsAAAG) c.465-55_465-52delinsAAAG (n.465-55_465-52delinsAAAG) n.705-55_705-52delinsAAAG | |
6 | g.33435098A>G | CA2678272094 | SYNGAP1 | c.252-54A>G (n.252-54A>G) c.510-54A>G (n.510-54A>G) c.333-54A>G (n.333-54A>G) c.465-54A>G (n.465-54A>G) n.705-54A>G | gnomAD v4 |
6 | g.33435098_33435100del | CA824051179 | SYNGAP1 | c.252-54_252-52del (n.252-54_252-52del) c.510-54_510-52del (n.510-54_510-52del) c.333-54_333-52del (n.333-54_333-52del) c.465-54_465-52del (n.465-54_465-52del) n.705-54_705-52del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435098_33435099insG | CA2770572232 | SYNGAP1 | c.252-54_252-53insG (n.252-54_252-53insG) c.510-54_510-53insG (n.510-54_510-53insG) c.333-54_333-53insG (n.333-54_333-53insG) c.465-54_465-53insG (n.465-54_465-53insG) n.705-54_705-53insG | |
6 | g.33435099A= | CA1620011274 | SYNGAP1 | c.252-53A= (n.252-53A=) c.510-53A= (n.510-53A=) c.333-53A= (n.333-53A=) c.465-53A= (n.465-53A=) n.705-53A= | |
6 | g.33435099A>G | CA2578585377 | SYNGAP1 | c.252-53A>G (n.252-53A>G) c.510-53A>G (n.510-53A>G) c.333-53A>G (n.333-53A>G) c.465-53A>G (n.465-53A>G) n.705-53A>G | gnomAD v4 |
6 | g.33435099A>T | CA2678272099 | SYNGAP1 | c.252-53A>T (n.252-53A>T) c.510-53A>T (n.510-53A>T) c.333-53A>T (n.333-53A>T) c.465-53A>T (n.465-53A>T) n.705-53A>T | gnomAD v4 |
6 | g.33435099_33435100del | CA1087668144 | SYNGAP1 | c.252-53_252-52del (n.252-53_252-52del) c.510-53_510-52del (n.510-53_510-52del) c.333-53_333-52del (n.333-53_333-52del) c.465-53_465-52del (n.465-53_465-52del) n.705-53_705-52del | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100delinsAG | CA1620011273 | SYNGAP1 | c.252-53_252-52delinsAG (n.252-53_252-52delinsAG) c.510-53_510-52delinsAG (n.510-53_510-52delinsAG) c.333-53_333-52delinsAG (n.333-53_333-52delinsAG) c.465-53_465-52delinsAG (n.465-53_465-52delinsAG) n.705-53_705-52delinsAG | |
6 | g.33435100_33435102del | CA2740733582 | SYNGAP1 | c.252-52_252-50del (n.252-52_252-50del) c.510-52_510-50del (n.510-52_510-50del) c.333-52_333-50del (n.333-52_333-50del) c.465-52_465-50del (n.465-52_465-50del) n.705-52_705-50del | |
6 | g.33435099_33435100insT | CA1087668148 | SYNGAP1 | c.252-53_252-52insT (n.252-53_252-52insT) c.510-53_510-52insT (n.510-53_510-52insT) c.333-53_333-52insT (n.333-53_333-52insT) c.465-53_465-52insT (n.465-53_465-52insT) n.705-53_705-52insT | gnomAD v3 gnomAD v4 |
6 | g.33435099_33435100insAG | CA2770572237 | SYNGAP1 | c.252-53_252-52insAG (n.252-53_252-52insAG) c.510-53_510-52insAG (n.510-53_510-52insAG) c.333-53_333-52insAG (n.333-53_333-52insAG) c.465-53_465-52insAG (n.465-53_465-52insAG) n.705-53_705-52insAG | |
6 | g.33435099_33435100insAT | CA2678272108 | SYNGAP1 | c.252-53_252-52insAT (n.252-53_252-52insAT) c.510-53_510-52insAT (n.510-53_510-52insAT) c.333-53_333-52insAT (n.333-53_333-52insAT) c.465-53_465-52insAT (n.465-53_465-52insAT) n.705-53_705-52insAT | gnomAD v4 |
6 | g.33435099_33435100insAAG | CA1620011276 | SYNGAP1 | c.252-53_252-52insAAG (n.252-53_252-52insAAG) c.510-53_510-52insAAG (n.510-53_510-52insAAG) c.333-53_333-52insAAG (n.333-53_333-52insAAG) c.465-53_465-52insAAG (n.465-53_465-52insAAG) n.705-53_705-52insAAG | dbSNP |
6 | g.33435099_33435100insAAT | CA2678272109 | SYNGAP1 | c.252-53_252-52insAAT (n.252-53_252-52insAAT) c.510-53_510-52insAAT (n.510-53_510-52insAAT) c.333-53_333-52insAAT (n.333-53_333-52insAAT) c.465-53_465-52insAAT (n.465-53_465-52insAAT) n.705-53_705-52insAAT | gnomAD v4 |
6 | g.33435099_33435100insAAAT | CA2678272104 | SYNGAP1 | c.252-53_252-52insAAAT (n.252-53_252-52insAAAT) c.510-53_510-52insAAAT (n.510-53_510-52insAAAT) c.333-53_333-52insAAAT (n.333-53_333-52insAAAT) c.465-53_465-52insAAAT (n.465-53_465-52insAAAT) n.705-53_705-52insAAAT | gnomAD v4 |
6 | g.33435099_33435100insAAAAT | CA2678272110 | SYNGAP1 | c.252-53_252-52insAAAAT (n.252-53_252-52insAAAAT) c.510-53_510-52insAAAAT (n.510-53_510-52insAAAAT) c.333-53_333-52insAAAAT (n.333-53_333-52insAAAAT) c.465-53_465-52insAAAAT (n.465-53_465-52insAAAAT) n.705-53_705-52insAAAAT | gnomAD v4 |
6 | g.33435099_33435100insAAGGAGAGGG | CA1087668146 | SYNGAP1 | c.252-53_252-52insAAGGAGAGGG (n.252-53_252-52insAAGGAGAGGG) c.510-53_510-52insAAGGAGAGGG (n.510-53_510-52insAAGGAGAGGG) c.333-53_333-52insAAGGAGAGGG (n.333-53_333-52insAAGGAGAGGG) c.465-53_465-52insAAGGAGAGGG (n.465-53_465-52insAAGGAGAGGG) n.705-53_705-52insAAGGAGAGGG | gnomAD v3 gnomAD v4 |
6 | g.33435100G>A | CA137097584 | SYNGAP1 | c.252-52G>A (n.252-52G>A) c.510-52G>A (n.510-52G>A) c.333-52G>A (n.333-52G>A) c.465-52G>A (n.465-52G>A) n.705-52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435100G>C | CA2678272105 | SYNGAP1 | c.252-52G>C (n.252-52G>C) c.510-52G>C (n.510-52G>C) c.333-52G>C (n.333-52G>C) c.465-52G>C (n.465-52G>C) n.705-52G>C | gnomAD v4 |
6 | g.33435100G= | CA1620011275 | SYNGAP1 | c.252-52G= (n.252-52G=) c.510-52G= (n.510-52G=) c.333-52G= (n.333-52G=) c.465-52G= (n.465-52G=) n.705-52G= | |
6 | g.33435100G>T | CA2678272103 | SYNGAP1 | c.252-52G>T (n.252-52G>T) c.510-52G>T (n.510-52G>T) c.333-52G>T (n.333-52G>T) c.465-52G>T (n.465-52G>T) n.705-52G>T | gnomAD v4 |
6 | g.33435100_33435101del | CA1087668152 | SYNGAP1 | c.252-52_252-51del (n.252-52_252-51del) c.510-52_510-51del (n.510-52_510-51del) c.333-52_333-51del (n.333-52_333-51del) c.465-52_465-51del (n.465-52_465-51del) n.705-52_705-51del | gnomAD v3 gnomAD v4 |
6 | g.33435101dup | CA1087668147 | SYNGAP1 | c.252-51dup (n.252-51dup) c.510-51dup (n.510-51dup) c.333-51dup (n.333-51dup) c.465-51dup (n.465-51dup) n.705-51dup | gnomAD v3 gnomAD v4 |
6 | g.33435101del | CA450106877 | SYNGAP1 | c.252-51del (n.252-51del) c.510-51del (n.510-51del) c.333-51del (n.333-51del) c.465-51del (n.465-51del) n.705-51del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435101G>A | CA3758513 | SYNGAP1 | c.252-51G>A (n.252-51G>A) c.510-51G>A (n.510-51G>A) c.333-51G>A (n.333-51G>A) c.465-51G>A (n.465-51G>A) n.705-51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435101G>C | CA2678272125 | SYNGAP1 | c.252-51G>C (n.252-51G>C) c.510-51G>C (n.510-51G>C) c.333-51G>C (n.333-51G>C) c.465-51G>C (n.465-51G>C) n.705-51G>C | gnomAD v4 |
6 | g.33435101G= | CA1620011278 | SYNGAP1 | c.252-51G= (n.252-51G=) c.510-51G= (n.510-51G=) c.333-51G= (n.333-51G=) c.465-51G= (n.465-51G=) n.705-51G= | |
6 | g.33435101G>T | CA2594877812 | SYNGAP1 | c.252-51G>T (n.252-51G>T) c.510-51G>T (n.510-51G>T) c.333-51G>T (n.333-51G>T) c.465-51G>T (n.465-51G>T) n.705-51G>T | gnomAD v3 gnomAD v4 |
6 | g.33435101_33435102del | CA2678272120 | SYNGAP1 | c.252-51_252-50del (n.252-51_252-50del) c.510-51_510-50del (n.510-51_510-50del) c.333-51_333-50del (n.333-51_333-50del) c.465-51_465-50del (n.465-51_465-50del) n.705-51_705-50del | gnomAD v4 |
6 | g.33435101_33435102delinsGA | CA1620011277 | SYNGAP1 | c.252-51_252-50delinsGA (n.252-51_252-50delinsGA) c.510-51_510-50delinsGA (n.510-51_510-50delinsGA) c.333-51_333-50delinsGA (n.333-51_333-50delinsGA) c.465-51_465-50delinsGA (n.465-51_465-50delinsGA) n.705-51_705-50delinsGA | |
6 | g.33435101_33435103delinsGAA | CA1620011279 | SYNGAP1 | c.252-51_252-49delinsGAA (n.252-51_252-49delinsGAA) c.510-51_510-49delinsGAA (n.510-51_510-49delinsGAA) c.333-51_333-49delinsGAA (n.333-51_333-49delinsGAA) c.465-51_465-49delinsGAA (n.465-51_465-49delinsGAA) n.705-51_705-49delinsGAA | |
6 | g.33435102A= | CA1620011280 | SYNGAP1 | c.252-50A= (n.252-50A=) c.510-50A= (n.510-50A=) c.333-50A= (n.333-50A=) c.465-50A= (n.465-50A=) n.705-50A= | |
6 | g.33435102A>C | CA2678272134 | SYNGAP1 | c.252-50A>C (n.252-50A>C) c.510-50A>C (n.510-50A>C) c.333-50A>C (n.333-50A>C) c.465-50A>C (n.465-50A>C) n.705-50A>C | gnomAD v4 |
6 | g.33435102A>G | CA3758514 | SYNGAP1 | c.252-50A>G (n.252-50A>G) c.510-50A>G (n.510-50A>G) c.333-50A>G (n.333-50A>G) c.465-50A>G (n.465-50A>G) n.705-50A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435102A>T | CA2678272133 | SYNGAP1 | c.252-50A>T (n.252-50A>T) c.510-50A>T (n.510-50A>T) c.333-50A>T (n.333-50A>T) c.465-50A>T (n.465-50A>T) n.705-50A>T | gnomAD v4 |
6 | g.33435102_33435103del | CA824051185 | SYNGAP1 | c.252-50_252-49del (n.252-50_252-49del) c.510-50_510-49del (n.510-50_510-49del) c.333-50_333-49del (n.333-50_333-49del) c.465-50_465-49del (n.465-50_465-49del) n.705-50_705-49del | dbSNP gnomAD v4 |
6 | g.33435103_33435104insAAA | CA566700424 | SYNGAP1 | c.252-49_252-48insAAA (n.252-49_252-48insAAA) c.510-49_510-48insAAA (n.510-49_510-48insAAA) c.333-49_333-48insAAA (n.333-49_333-48insAAA) c.465-49_465-48insAAA (n.465-49_465-48insAAA) n.705-49_705-48insAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435103_33435104insAAAA | CA566700423 | SYNGAP1 | c.252-49_252-48insAAAA (n.252-49_252-48insAAAA) c.510-49_510-48insAAAA (n.510-49_510-48insAAAA) c.333-49_333-48insAAAA (n.333-49_333-48insAAAA) c.465-49_465-48insAAAA (n.465-49_465-48insAAAA) n.705-49_705-48insAAAA | dbSNP gnomAD v2 |
6 | g.33435103_33435104insAAAAA | CA566700422 | SYNGAP1 | c.252-49_252-48insAAAAA (n.252-49_252-48insAAAAA) c.510-49_510-48insAAAAA (n.510-49_510-48insAAAAA) c.333-49_333-48insAAAAA (n.333-49_333-48insAAAAA) c.465-49_465-48insAAAAA (n.465-49_465-48insAAAAA) n.705-49_705-48insAAAAA | gnomAD v2 |
6 | g.33435103del | CA3758512 | SYNGAP1 | c.252-49del (n.252-49del) c.510-49del (n.510-49del) c.333-49del (n.333-49del) c.465-49del (n.465-49del) n.705-49del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435102_33435103insG | CA1620011281 | SYNGAP1 | c.252-50_252-49insG (n.252-50_252-49insG) c.510-50_510-49insG (n.510-50_510-49insG) c.333-50_333-49insG (n.333-50_333-49insG) c.465-50_465-49insG (n.465-50_465-49insG) n.705-50_705-49insG | dbSNP |
6 | g.33435103A= | CA1620011282 | SYNGAP1 | c.252-49A= (n.252-49A=) c.510-49A= (n.510-49A=) c.333-49A= (n.333-49A=) c.465-49A= (n.465-49A=) n.705-49A= | |
6 | g.33435103A>C | CA2678272145 | SYNGAP1 | c.252-49A>C (n.252-49A>C) c.510-49A>C (n.510-49A>C) c.333-49A>C (n.333-49A>C) c.465-49A>C (n.465-49A>C) n.705-49A>C | gnomAD v4 |
6 | g.33435103A>G | CA824051188 | SYNGAP1 | c.252-49A>G (n.252-49A>G) c.510-49A>G (n.510-49A>G) c.333-49A>G (n.333-49A>G) c.465-49A>G (n.465-49A>G) n.705-49A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435103A>T | CA2678272141 | SYNGAP1 | c.252-49A>T (n.252-49A>T) c.510-49A>T (n.510-49A>T) c.333-49A>T (n.333-49A>T) c.465-49A>T (n.465-49A>T) n.705-49A>T | gnomAD v4 |
6 | g.33435103_33435104insAGA | CA1087668164 | SYNGAP1 | c.252-49_252-48insAGA (n.252-49_252-48insAGA) c.510-49_510-48insAGA (n.510-49_510-48insAGA) c.333-49_333-48insAGA (n.333-49_333-48insAGA) c.465-49_465-48insAGA (n.465-49_465-48insAGA) n.705-49_705-48insAGA | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435105_33435106dup | CA2678272142 | SYNGAP1 | c.252-47_252-46dup (n.252-47_252-46dup) c.510-47_510-46dup (n.510-47_510-46dup) c.333-47_333-46dup (n.333-47_333-46dup) c.465-47_465-46dup (n.465-47_465-46dup) n.705-47_705-46dup | gnomAD v4 |
6 | g.33435103_33435104insT | CA2678272152 | SYNGAP1 | c.252-49_252-48insT (n.252-49_252-48insT) c.510-49_510-48insT (n.510-49_510-48insT) c.333-49_333-48insT (n.333-49_333-48insT) c.465-49_465-48insT (n.465-49_465-48insT) n.705-49_705-48insT | gnomAD v4 |
6 | g.33435103_33435104insAG | CA2594877816 | SYNGAP1 | c.252-49_252-48insAG (n.252-49_252-48insAG) c.510-49_510-48insAG (n.510-49_510-48insAG) c.333-49_333-48insAG (n.333-49_333-48insAG) c.465-49_465-48insAG (n.465-49_465-48insAG) n.705-49_705-48insAG | gnomAD v3 gnomAD v4 |
6 | g.33435104del | CA2678272153 | SYNGAP1 | c.252-48del (n.252-48del) c.510-48del (n.510-48del) c.333-48del (n.333-48del) c.465-48del (n.465-48del) n.705-48del | gnomAD v4 |
6 | g.33435104G>A | CA566700425 | SYNGAP1 | c.252-48G>A (n.252-48G>A) c.510-48G>A (n.510-48G>A) c.333-48G>A (n.333-48G>A) c.465-48G>A (n.465-48G>A) n.705-48G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435104G>C | CA2678272150 | SYNGAP1 | c.252-48G>C (n.252-48G>C) c.510-48G>C (n.510-48G>C) c.333-48G>C (n.333-48G>C) c.465-48G>C (n.465-48G>C) n.705-48G>C | gnomAD v4 |
6 | g.33435104G= | CA1620011283 | SYNGAP1 | c.252-48G= (n.252-48G=) c.510-48G= (n.510-48G=) c.333-48G= (n.333-48G=) c.465-48G= (n.465-48G=) n.705-48G= | |
6 | g.33435104G>T | CA1087668167 | SYNGAP1 | c.252-48G>T (n.252-48G>T) c.510-48G>T (n.510-48G>T) c.333-48G>T (n.333-48G>T) c.465-48G>T (n.465-48G>T) n.705-48G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435104_33435105insGGG | CA1087668165 | SYNGAP1 | c.252-48_252-47insGGG (n.252-48_252-47insGGG) c.510-48_510-47insGGG (n.510-48_510-47insGGG) c.333-48_333-47insGGG (n.333-48_333-47insGGG) c.465-48_465-47insGGG (n.465-48_465-47insGGG) n.705-48_705-47insGGG | gnomAD v3 gnomAD v4 |
6 | g.33435104_33435105insGTG | CA2678272155 | SYNGAP1 | c.252-48_252-47insGTG (n.252-48_252-47insGTG) c.510-48_510-47insGTG (n.510-48_510-47insGTG) c.333-48_333-47insGTG (n.333-48_333-47insGTG) c.465-48_465-47insGTG (n.465-48_465-47insGTG) n.705-48_705-47insGTG | gnomAD v4 |
6 | g.33435104_33435105insGAT | CA2678272164 | SYNGAP1 | c.252-48_252-47insGAT (n.252-48_252-47insGAT) c.510-48_510-47insGAT (n.510-48_510-47insGAT) c.333-48_333-47insGAT (n.333-48_333-47insGAT) c.465-48_465-47insGAT (n.465-48_465-47insGAT) n.705-48_705-47insGAT | gnomAD v4 |
6 | g.33435104_33435105insTAAT | CA2678272167 | SYNGAP1 | c.252-48_252-47insTAAT (n.252-48_252-47insTAAT) c.510-48_510-47insTAAT (n.510-48_510-47insTAAT) c.333-48_333-47insTAAT (n.333-48_333-47insTAAT) c.465-48_465-47insTAAT (n.465-48_465-47insTAAT) n.705-48_705-47insTAAT | gnomAD v4 |
6 | g.33435105del | CA2678272168 | SYNGAP1 | c.252-47del (n.252-47del) c.510-47del (n.510-47del) c.333-47del (n.333-47del) c.465-47del (n.465-47del) n.705-47del | gnomAD v4 |
6 | g.33435105A= | CA1620011284 | SYNGAP1 | c.252-47A= (n.252-47A=) c.510-47A= (n.510-47A=) c.333-47A= (n.333-47A=) c.465-47A= (n.465-47A=) n.705-47A= | |
6 | g.33435105A>C | CA2678272170 | SYNGAP1 | c.252-47A>C (n.252-47A>C) c.510-47A>C (n.510-47A>C) c.333-47A>C (n.333-47A>C) c.465-47A>C (n.465-47A>C) n.705-47A>C | gnomAD v4 |
6 | g.33435105A>G | CA3758515 | SYNGAP1 | c.252-47A>G (n.252-47A>G) c.510-47A>G (n.510-47A>G) c.333-47A>G (n.333-47A>G) c.465-47A>G (n.465-47A>G) n.705-47A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435105A>T | CA1087668174 | SYNGAP1 | c.252-47A>T (n.252-47A>T) c.510-47A>T (n.510-47A>T) c.333-47A>T (n.333-47A>T) c.465-47A>T (n.465-47A>T) n.705-47A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435105_33435106insAAA | CA566700426 | SYNGAP1 | c.252-47_252-46insAAA (n.252-47_252-46insAAA) c.510-47_510-46insAAA (n.510-47_510-46insAAA) c.333-47_333-46insAAA (n.333-47_333-46insAAA) c.465-47_465-46insAAA (n.465-47_465-46insAAA) n.705-47_705-46insAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435105_33435106insTT | CA2678272185 | SYNGAP1 | c.252-47_252-46insTT (n.252-47_252-46insTT) c.510-47_510-46insTT (n.510-47_510-46insTT) c.333-47_333-46insTT (n.333-47_333-46insTT) c.465-47_465-46insTT (n.465-47_465-46insTT) n.705-47_705-46insTT | gnomAD v4 |
6 | g.33435105_33435106insATT | CA2678272182 | SYNGAP1 | c.252-47_252-46insATT (n.252-47_252-46insATT) c.510-47_510-46insATT (n.510-47_510-46insATT) c.333-47_333-46insATT (n.333-47_333-46insATT) c.465-47_465-46insATT (n.465-47_465-46insATT) n.705-47_705-46insATT | gnomAD v4 |
6 | g.33435106G>A | CA566700427 | SYNGAP1 | c.252-46G>A (n.252-46G>A) c.510-46G>A (n.510-46G>A) c.333-46G>A (n.333-46G>A) c.465-46G>A (n.465-46G>A) n.705-46G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435106G>C | CA566700428 | SYNGAP1 | c.252-46G>C (n.252-46G>C) c.510-46G>C (n.510-46G>C) c.333-46G>C (n.333-46G>C) c.465-46G>C (n.465-46G>C) n.705-46G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435106G= | CA1620011285 | SYNGAP1 | c.252-46G= (n.252-46G=) c.510-46G= (n.510-46G=) c.333-46G= (n.333-46G=) c.465-46G= (n.465-46G=) n.705-46G= | |
6 | g.33435106G>T | CA2594877818 | SYNGAP1 | c.252-46G>T (n.252-46G>T) c.510-46G>T (n.510-46G>T) c.333-46G>T (n.333-46G>T) c.465-46G>T (n.465-46G>T) n.705-46G>T | gnomAD v3 gnomAD v4 |
6 | g.33435106dup | CA1087668177 | SYNGAP1 | c.252-46dup (n.252-46dup) c.510-46dup (n.510-46dup) c.333-46dup (n.333-46dup) c.465-46dup (n.465-46dup) n.705-46dup | gnomAD v3 gnomAD v4 |
6 | g.33435107_33435109dup | CA2678272178 | SYNGAP1 | c.252-45_252-43dup (n.252-45_252-43dup) c.510-45_510-43dup (n.510-45_510-43dup) c.333-45_333-43dup (n.333-45_333-43dup) c.465-45_465-43dup (n.465-45_465-43dup) n.705-45_705-43dup | gnomAD v4 |
6 | g.33435107T>A | CA3758517 | SYNGAP1 | c.252-45T>A (n.252-45T>A) c.510-45T>A (n.510-45T>A) c.333-45T>A (n.333-45T>A) c.465-45T>A (n.465-45T>A) n.705-45T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435107T>C | CA1087668183 | SYNGAP1 | c.252-45T>C (n.252-45T>C) c.510-45T>C (n.510-45T>C) c.333-45T>C (n.333-45T>C) c.465-45T>C (n.465-45T>C) n.705-45T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435107T>G | CA3758516 | SYNGAP1 | c.252-45T>G (n.252-45T>G) c.510-45T>G (n.510-45T>G) c.333-45T>G (n.333-45T>G) c.465-45T>G (n.465-45T>G) n.705-45T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435107T= | CA1620011286 | SYNGAP1 | c.252-45T= (n.252-45T=) c.510-45T= (n.510-45T=) c.333-45T= (n.333-45T=) c.465-45T= (n.465-45T=) n.705-45T= | |
6 | g.33435107_33435108insTG | CA2678272199 | SYNGAP1 | c.252-45_252-44insTG (n.252-45_252-44insTG) c.510-45_510-44insTG (n.510-45_510-44insTG) c.333-45_333-44insTG (n.333-45_333-44insTG) c.465-45_465-44insTG (n.465-45_465-44insTG) n.705-45_705-44insTG | gnomAD v4 |
6 | g.33435108G>A | CA3758518 | SYNGAP1 | c.252-44G>A (n.252-44G>A) c.510-44G>A (n.510-44G>A) c.333-44G>A (n.333-44G>A) c.465-44G>A (n.465-44G>A) n.705-44G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33435108G= | CA1620011287 | SYNGAP1 | c.252-44G= (n.252-44G=) c.510-44G= (n.510-44G=) c.333-44G= (n.333-44G=) c.465-44G= (n.465-44G=) n.705-44G= | |
6 | g.33435108G>T | CA2678272204 | SYNGAP1 | c.252-44G>T (n.252-44G>T) c.510-44G>T (n.510-44G>T) c.333-44G>T (n.333-44G>T) c.465-44G>T (n.465-44G>T) n.705-44G>T | gnomAD v4 |
6 | g.33435110dup | CA2678272196 | SYNGAP1 | c.252-42dup (n.252-42dup) c.510-42dup (n.510-42dup) c.333-42dup (n.333-42dup) c.465-42dup (n.465-42dup) n.705-42dup | gnomAD v4 |
6 | g.33435110G>A | CA2678272211 | SYNGAP1 | c.252-42G>A (n.252-42G>A) c.510-42G>A (n.510-42G>A) c.333-42G>A (n.333-42G>A) c.465-42G>A (n.465-42G>A) n.705-42G>A | gnomAD v4 |
6 | g.33435110G>C | CA2678272212 | SYNGAP1 | c.252-42G>C (n.252-42G>C) c.510-42G>C (n.510-42G>C) c.333-42G>C (n.333-42G>C) c.465-42G>C (n.465-42G>C) n.705-42G>C | gnomAD v4 |
6 | g.33435110G>T | CA2678272213 | SYNGAP1 | c.252-42G>T (n.252-42G>T) c.510-42G>T (n.510-42G>T) c.333-42G>T (n.333-42G>T) c.465-42G>T (n.465-42G>T) n.705-42G>T | gnomAD v4 |
6 | g.33435111A>G | CA1087668186 | SYNGAP1 | c.252-41A>G (n.252-41A>G) c.510-41A>G (n.510-41A>G) c.333-41A>G (n.333-41A>G) c.465-41A>G (n.465-41A>G) n.705-41A>G | gnomAD v3 gnomAD v4 |
6 | g.33435111A>T | CA2678272215 | SYNGAP1 | c.252-41A>T (n.252-41A>T) c.510-41A>T (n.510-41A>T) c.333-41A>T (n.333-41A>T) c.465-41A>T (n.465-41A>T) n.705-41A>T | gnomAD v4 |
6 | g.33435112A>C | CA2678272217 | SYNGAP1 | c.252-40A>C (n.252-40A>C) c.510-40A>C (n.510-40A>C) c.333-40A>C (n.333-40A>C) c.465-40A>C (n.465-40A>C) n.705-40A>C | gnomAD v4 |
6 | g.33435113G>A | CA2839408716 | SYNGAP1 | c.252-39G>A (n.252-39G>A) c.510-39G>A (n.510-39G>A) c.333-39G>A (n.333-39G>A) c.465-39G>A (n.465-39G>A) n.705-39G>A | |
6 | g.33435113G>C | CA2678272218 | SYNGAP1 | c.252-39G>C (n.252-39G>C) c.510-39G>C (n.510-39G>C) c.333-39G>C (n.333-39G>C) c.465-39G>C (n.465-39G>C) n.705-39G>C | gnomAD v4 |
6 | g.33435113_33435114delinsGC | CA1620011288 | SYNGAP1 | c.252-39_252-38delinsGC (n.252-39_252-38delinsGC) c.510-39_510-38delinsGC (n.510-39_510-38delinsGC) c.333-39_333-38delinsGC (n.333-39_333-38delinsGC) c.465-39_465-38delinsGC (n.465-39_465-38delinsGC) n.705-39_705-38delinsGC | |
6 | g.33435114C>A | CA3758519 | SYNGAP1 | c.252-38C>A (n.252-38C>A) c.510-38C>A (n.510-38C>A) c.333-38C>A (n.333-38C>A) c.465-38C>A (n.465-38C>A) n.705-38C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33435114C= | CA1620011289 | SYNGAP1 | c.252-38C= (n.252-38C=) c.510-38C= (n.510-38C=) c.333-38C= (n.333-38C=) c.465-38C= (n.465-38C=) n.705-38C= | |
6 | g.33435114C>T | CA2678272223 | SYNGAP1 | c.252-38C>T (n.252-38C>T) c.510-38C>T (n.510-38C>T) c.333-38C>T (n.333-38C>T) c.465-38C>T (n.465-38C>T) n.705-38C>T | gnomAD v4 |
6 | g.33435116del | CA824051205 | SYNGAP1 | c.252-36del (n.252-36del) c.510-36del (n.510-36del) c.333-36del (n.333-36del) c.465-36del (n.465-36del) n.705-36del | dbSNP |
6 | g.33435116C= | CA1620011290 | SYNGAP1 | c.252-36C= (n.252-36C=) c.510-36C= (n.510-36C=) c.333-36C= (n.333-36C=) c.465-36C= (n.465-36C=) n.705-36C= | |
6 | g.33435116C>T | CA566700429 | SYNGAP1 | c.252-36C>T (n.252-36C>T) c.510-36C>T (n.510-36C>T) c.333-36C>T (n.333-36C>T) c.465-36C>T (n.465-36C>T) n.705-36C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33435117T>C | CA1087668197 | SYNGAP1 | c.252-35T>C (n.252-35T>C) c.510-35T>C (n.510-35T>C) c.333-35T>C (n.333-35T>C) c.465-35T>C (n.465-35T>C) n.705-35T>C | gnomAD v3 gnomAD v4 |
6 | g.33435118G>T | CA1087668200 | SYNGAP1 | c.252-34G>T (n.252-34G>T) c.510-34G>T (n.510-34G>T) c.333-34G>T (n.333-34G>T) c.465-34G>T (n.465-34G>T) n.705-34G>T | gnomAD v3 gnomAD v4 |
6 | g.33435119A>C | CA2842964026 | SYNGAP1 | c.252-33A>C (n.252-33A>C) c.510-33A>C (n.510-33A>C) c.333-33A>C (n.333-33A>C) c.465-33A>C (n.465-33A>C) n.705-33A>C | |
6 | g.33435120T>A | CA2594877820 | SYNGAP1 | c.252-32T>A (n.252-32T>A) c.510-32T>A (n.510-32T>A) c.333-32T>A (n.333-32T>A) c.465-32T>A (n.465-32T>A) n.705-32T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435120T>C | CA2678272228 | SYNGAP1 | c.252-32T>C (n.252-32T>C) c.510-32T>C (n.510-32T>C) c.333-32T>C (n.333-32T>C) c.465-32T>C (n.465-32T>C) n.705-32T>C | gnomAD v4 |
6 | g.33435120T>G | CA2678272229 | SYNGAP1 | c.252-32T>G (n.252-32T>G) c.510-32T>G (n.510-32T>G) c.333-32T>G (n.333-32T>G) c.465-32T>G (n.465-32T>G) n.705-32T>G | gnomAD v4 |
6 | g.33435121C>A | CA3758520 | SYNGAP1 | c.252-31C>A (n.252-31C>A) c.510-31C>A (n.510-31C>A) c.333-31C>A (n.333-31C>A) c.465-31C>A (n.465-31C>A) n.705-31C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435121C= | CA1620011291 | SYNGAP1 | c.252-31C= (n.252-31C=) c.510-31C= (n.510-31C=) c.333-31C= (n.333-31C=) c.465-31C= (n.465-31C=) n.705-31C= | |
6 | g.33435121C>T | CA566700430 | SYNGAP1 | c.252-31C>T (n.252-31C>T) c.510-31C>T (n.510-31C>T) c.333-31C>T (n.333-31C>T) c.465-31C>T (n.465-31C>T) n.705-31C>T | dbSNP gnomAD v2 |
6 | g.33435122C>A | CA2678272238 | SYNGAP1 | c.252-30C>A (n.252-30C>A) c.510-30C>A (n.510-30C>A) c.333-30C>A (n.333-30C>A) c.465-30C>A (n.465-30C>A) n.705-30C>A | gnomAD v4 |
6 | g.33435122C= | CA1620011292 | SYNGAP1 | c.252-30C= (n.252-30C=) c.510-30C= (n.510-30C=) c.333-30C= (n.333-30C=) c.465-30C= (n.465-30C=) n.705-30C= | |
6 | g.33435122C>T | CA3758521 | SYNGAP1 | c.252-30C>T (n.252-30C>T) c.510-30C>T (n.510-30C>T) c.333-30C>T (n.333-30C>T) c.465-30C>T (n.465-30C>T) n.705-30C>T | dbSNP ExAC gnomAD v2 |
6 | g.33435123C>A | CA2842964027 | SYNGAP1 | c.252-29C>A (n.252-29C>A) c.510-29C>A (n.510-29C>A) c.333-29C>A (n.333-29C>A) c.465-29C>A (n.465-29C>A) n.705-29C>A | |
6 | g.33435123C>T | CA2838983696 | SYNGAP1 | c.252-29C>T (n.252-29C>T) c.510-29C>T (n.510-29C>T) c.333-29C>T (n.333-29C>T) c.465-29C>T (n.465-29C>T) n.705-29C>T | |
6 | g.33435124T>C | CA824051217 | SYNGAP1 | c.252-28T>C (n.252-28T>C) c.510-28T>C (n.510-28T>C) c.333-28T>C (n.333-28T>C) c.465-28T>C (n.465-28T>C) n.705-28T>C | dbSNP |
6 | g.33435124T= | CA1620011293 | SYNGAP1 | c.252-28T= (n.252-28T=) c.510-28T= (n.510-28T=) c.333-28T= (n.333-28T=) c.465-28T= (n.465-28T=) n.705-28T= | |
6 | g.33435125T>A | CA2594877821 | SYNGAP1 | c.252-27T>A (n.252-27T>A) c.510-27T>A (n.510-27T>A) c.333-27T>A (n.333-27T>A) c.465-27T>A (n.465-27T>A) n.705-27T>A | gnomAD v3 gnomAD v4 |
6 | g.33435128T>A | CA2594877822 | SYNGAP1 | c.252-24T>A (n.252-24T>A) c.510-24T>A (n.510-24T>A) c.333-24T>A (n.333-24T>A) c.465-24T>A (n.465-24T>A) n.705-24T>A | gnomAD v3 gnomAD v4 |
6 | g.33435128T>C | CA1087668202 | SYNGAP1 | c.252-24T>C (n.252-24T>C) c.510-24T>C (n.510-24T>C) c.333-24T>C (n.333-24T>C) c.465-24T>C (n.465-24T>C) n.705-24T>C | gnomAD v3 gnomAD v4 |
6 | g.33435129C>A | CA2678272242 | SYNGAP1 | c.252-23C>A (n.252-23C>A) c.510-23C>A (n.510-23C>A) c.333-23C>A (n.333-23C>A) c.465-23C>A (n.465-23C>A) n.705-23C>A | gnomAD v4 |
6 | g.33435129C= | CA1620011294 | SYNGAP1 | c.252-23C= (n.252-23C=) c.510-23C= (n.510-23C=) c.333-23C= (n.333-23C=) c.465-23C= (n.465-23C=) n.705-23C= | |
6 | g.33435129C>T | CA3758522 | SYNGAP1 | c.252-23C>T (n.252-23C>T) c.510-23C>T (n.510-23C>T) c.333-23C>T (n.333-23C>T) c.465-23C>T (n.465-23C>T) n.705-23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33435130T>A | CA1087668204 | SYNGAP1 | c.252-22T>A (n.252-22T>A) c.510-22T>A (n.510-22T>A) c.333-22T>A (n.333-22T>A) c.465-22T>A (n.465-22T>A) n.705-22T>A | gnomAD v3 gnomAD v4 |
6 | g.33435130T>C | CA1087668206 | SYNGAP1 | c.252-22T>C (n.252-22T>C) c.510-22T>C (n.510-22T>C) c.333-22T>C (n.333-22T>C) c.465-22T>C (n.465-22T>C) n.705-22T>C | gnomAD v3 gnomAD v4 |
6 | g.33435131C>A | CA2678272251 | SYNGAP1 | c.252-21C>A (n.252-21C>A) c.510-21C>A (n.510-21C>A) c.333-21C>A (n.333-21C>A) c.465-21C>A (n.465-21C>A) n.705-21C>A | gnomAD v4 |
6 | g.33435131C>T | CA2578585378 | SYNGAP1 | c.252-21C>T (n.252-21C>T) c.510-21C>T (n.510-21C>T) c.333-21C>T (n.333-21C>T) c.465-21C>T (n.465-21C>T) n.705-21C>T | gnomAD v4 |
6 | g.33435132C>T | CA2678272252 | SYNGAP1 | c.252-20C>T (n.252-20C>T) c.510-20C>T (n.510-20C>T) c.333-20C>T (n.333-20C>T) c.465-20C>T (n.465-20C>T) n.705-20C>T | dbSNP gnomAD v4 |
6 | g.33435133T>C | CA2678272253 | SYNGAP1 | c.252-19T>C (n.252-19T>C) c.510-19T>C (n.510-19T>C) c.333-19T>C (n.333-19T>C) c.465-19T>C (n.465-19T>C) n.705-19T>C | gnomAD v4 |
6 | g.33435134G>T | CA2678272255 | SYNGAP1 | c.252-18G>T (n.252-18G>T) c.510-18G>T (n.510-18G>T) c.333-18G>T (n.333-18G>T) c.465-18G>T (n.465-18G>T) n.705-18G>T | gnomAD v4 |
6 | g.33435134_33435140dup | CA2678272254 | SYNGAP1 | c.252-18_252-12dup (n.252-18_252-12dup) c.510-18_510-12dup (n.510-18_510-12dup) c.333-18_333-12dup (n.333-18_333-12dup) c.465-18_465-12dup (n.465-18_465-12dup) n.705-18_705-12dup | gnomAD v4 |
6 | g.33435135A>G | CA2838983687 | SYNGAP1 | c.252-17A>G (n.252-17A>G) c.510-17A>G (n.510-17A>G) c.333-17A>G (n.333-17A>G) c.465-17A>G (n.465-17A>G) n.705-17A>G | |
6 | g.33435137C>A | CA2678272256 | SYNGAP1 | c.252-15C>A (n.252-15C>A) c.510-15C>A (n.510-15C>A) c.333-15C>A (n.333-15C>A) c.465-15C>A (n.465-15C>A) n.705-15C>A | gnomAD v4 |
6 | g.33435138C>A | CA2842964029 | SYNGAP1 | c.252-14C>A (n.252-14C>A) c.510-14C>A (n.510-14C>A) c.333-14C>A (n.333-14C>A) c.465-14C>A (n.465-14C>A) n.705-14C>A | |
6 | g.33435138C>T | CA2842964028 | SYNGAP1 | c.252-14C>T (n.252-14C>T) c.510-14C>T (n.510-14C>T) c.333-14C>T (n.333-14C>T) c.465-14C>T (n.465-14C>T) n.705-14C>T | |
6 | g.33435139T>A | CA2578585379 | SYNGAP1 | c.252-13T>A (n.252-13T>A) c.510-13T>A (n.510-13T>A) c.333-13T>A (n.333-13T>A) c.465-13T>A (n.465-13T>A) n.705-13T>A | gnomAD v3 gnomAD v4 |
6 | g.33435139T>C | CA1087668209 | SYNGAP1 | c.252-13T>C (n.252-13T>C) c.510-13T>C (n.510-13T>C) c.333-13T>C (n.333-13T>C) c.465-13T>C (n.465-13T>C) n.705-13T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435139_33435143delinsTCCTG | CA1620011295 | SYNGAP1 | c.252-13_252-9delinsTCCTG (n.252-13_252-9delinsTCCTG) c.510-13_510-9delinsTCCTG (n.510-13_510-9delinsTCCTG) c.333-13_333-9delinsTCCTG (n.333-13_333-9delinsTCCTG) c.465-13_465-9delinsTCCTG (n.465-13_465-9delinsTCCTG) n.705-13_705-9delinsTCCTG | |
6 | g.33435146_33435149del | CA1620011296 | SYNGAP1 | c.252-6_252-3del (n.252-6_252-3del) c.510-6_510-3del (n.510-6_510-3del) c.333-6_333-3del (n.333-6_333-3del) c.465-6_465-3del (n.465-6_465-3del) n.705-6_705-3del | dbSNP |
6 | g.33435141C>T | CA2678272257 | SYNGAP1 | c.252-11C>T (n.252-11C>T) c.510-11C>T (n.510-11C>T) c.333-11C>T (n.333-11C>T) c.465-11C>T (n.465-11C>T) n.705-11C>T | gnomAD v4 |
6 | g.33435142T>C | CA2678272258 | SYNGAP1 | c.252-10T>C (n.252-10T>C) c.510-10T>C (n.510-10T>C) c.333-10T>C (n.333-10T>C) c.465-10T>C (n.465-10T>C) n.705-10T>C | gnomAD v4 |
6 | g.33435143G>A | CA2678272259 | SYNGAP1 | c.252-9G>A (n.252-9G>A) c.510-9G>A (n.510-9G>A) c.333-9G>A (n.333-9G>A) c.465-9G>A (n.465-9G>A) n.705-9G>A | gnomAD v4 |
6 | g.33435143G>T | CA2842964030 | SYNGAP1 | c.252-9G>T (n.252-9G>T) c.510-9G>T (n.510-9G>T) c.333-9G>T (n.333-9G>T) c.465-9G>T (n.465-9G>T) n.705-9G>T | |
6 | g.33435144C>T | CA2842964031 | SYNGAP1 | c.252-8C>T (n.252-8C>T) c.510-8C>T (n.510-8C>T) c.333-8C>T (n.333-8C>T) c.465-8C>T (n.465-8C>T) n.705-8C>T | |
6 | g.33435147G>A | CA915944210 | SYNGAP1 | c.252-5G>A (n.252-5G>A) c.510-5G>A (n.510-5G>A) c.333-5G>A (n.333-5G>A) c.465-5G>A (n.465-5G>A) n.705-5G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33435147G= | CA1620011297 | SYNGAP1 | c.252-5G= (n.252-5G=) c.510-5G= (n.510-5G=) c.333-5G= (n.333-5G=) c.465-5G= (n.465-5G=) n.705-5G= | |
6 | g.33435147G>T | CA2678272260 | SYNGAP1 | c.252-5G>T (n.252-5G>T) c.510-5G>T (n.510-5G>T) c.333-5G>T (n.333-5G>T) c.465-5G>T (n.465-5G>T) n.705-5G>T | gnomAD v4 |
6 | g.33435149C>T | CA2678272261 | SYNGAP1 | c.252-3C>T (n.252-3C>T) c.510-3C>T (n.510-3C>T) c.333-3C>T (n.333-3C>T) c.465-3C>T (n.465-3C>T) n.705-3C>T | gnomAD v4 |
6 | g.33435150A= | CA1620011298 | SYNGAP1 | c.252-2A= (n.252-2A=) c.510-2A= (n.510-2A=) c.333-2A= (n.333-2A=) c.465-2A= (n.465-2A=) n.705-2A= | |
6 | g.33435150A>C | CA363681957 | SYNGAP1 | c.252-2A>C (n.252-2A>C) c.510-2A>C (n.510-2A>C) c.333-2A>C (n.333-2A>C) c.465-2A>C (n.465-2A>C) n.705-2A>C | |
6 | g.33435150A>G | CA363681958 | SYNGAP1 | c.252-2A>G (n.252-2A>G) c.510-2A>G (n.510-2A>G) c.333-2A>G (n.333-2A>G) c.465-2A>G (n.465-2A>G) n.705-2A>G | ClinVar dbSNP |
6 | g.33435150A>T | CA363681959 | SYNGAP1 | c.252-2A>T (n.252-2A>T) c.510-2A>T (n.510-2A>T) c.333-2A>T (n.333-2A>T) c.465-2A>T (n.465-2A>T) n.705-2A>T | |
6 | g.33435151G>A | CA363681960 | SYNGAP1 | c.252-1G>A (n.252-1G>A) c.510-1G>A (n.510-1G>A) c.333-1G>A (n.333-1G>A) c.465-1G>A (n.465-1G>A) n.705-1G>A | ClinVar dbSNP |
6 | g.33435151G>C | CA363681961 | SYNGAP1 | c.252-1G>C (n.252-1G>C) c.510-1G>C (n.510-1G>C) c.333-1G>C (n.333-1G>C) c.465-1G>C (n.465-1G>C) n.705-1G>C | |
6 | g.33435151G>T | CA363681962 | SYNGAP1 | c.252-1G>T (n.252-1G>T) c.510-1G>T (n.510-1G>T) c.333-1G>T (n.333-1G>T) c.465-1G>T (n.465-1G>T) n.705-1G>T | |
6 | g.33435152G>A | CA450106879 | SYNGAP1 | c.252G>A (p.Arg84=) c.510G>A (p.Arg170=) c.333G>A (p.Arg111=) c.465G>A (p.Arg155=) n.705G>A | |
6 | g.33435152G>C | CA450106880 | SYNGAP1 | c.252G>C (p.Arg84=) c.510G>C (p.Arg170=) c.333G>C (p.Arg111=) c.465G>C (p.Arg155=) n.705G>C | |
6 | g.33435152G= | CA1620011299 | SYNGAP1 | c.252G= (p.Arg84=) c.510G= (p.Arg170=) c.333G= (p.Arg111=) c.465G= (p.Arg155=) n.705G= | |
6 | g.33435152G>T | CA3758523 | SYNGAP1 | c.252G>T (p.Arg84=) c.510G>T (p.Arg170=) c.333G>T (p.Arg111=) c.465G>T (p.Arg155=) n.705G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33435153G>A | CA363681963 | SYNGAP1 | c.253G>A (p.Ala85Thr) c.511G>A (p.Ala171Thr) c.334G>A (p.Ala112Thr) c.466G>A (p.Ala156Thr) n.706G>A | |
6 | g.33435153G>C | CA363681964 | SYNGAP1 | c.253G>C (p.Ala85Pro) c.511G>C (p.Ala171Pro) c.334G>C (p.Ala112Pro) c.466G>C (p.Ala156Pro) n.706G>C | |
6 | g.33435153G= | CA1620011300 | SYNGAP1 | c.253G= (p.Ala85=) c.511G= (p.Ala171=) c.334G= (p.Ala112=) c.466G= (p.Ala156=) n.706G= | |
6 | g.33435153G>T | CA363681965 | SYNGAP1 | c.253G>T (p.Ala85Ser) c.511G>T (p.Ala171Ser) c.334G>T (p.Ala112Ser) c.466G>T (p.Ala156Ser) n.706G>T | dbSNP |
6 | g.33435154C>A | CA363681966 | SYNGAP1 | c.254C>A (p.Ala85Asp) c.512C>A (p.Ala171Asp) c.335C>A (p.Ala112Asp) c.467C>A (p.Ala156Asp) n.707C>A | |
6 | g.33435154C= | CA1620011301 | SYNGAP1 | c.254C= (p.Ala85=) c.512C= (p.Ala171=) c.335C= (p.Ala112=) c.467C= (p.Ala156=) n.707C= | |
6 | g.33435154C>G | CA363681967 | SYNGAP1 | c.254C>G (p.Ala85Gly) c.512C>G (p.Ala171Gly) c.335C>G (p.Ala112Gly) c.467C>G (p.Ala156Gly) n.707C>G | |
6 | g.33435154C>T | CA363681968 | SYNGAP1 | c.254C>T (p.Ala85Val) c.512C>T (p.Ala171Val) c.335C>T (p.Ala112Val) c.467C>T (p.Ala156Val) n.707C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33435155C>A | CA450106883 | SYNGAP1 | c.255C>A (p.Ala85=) c.513C>A (p.Ala171=) c.336C>A (p.Ala112=) c.468C>A (p.Ala156=) n.708C>A | |
6 | g.33435155C>G | CA450106881 | SYNGAP1 | c.255C>G (p.Ala85=) c.513C>G (p.Ala171=) c.336C>G (p.Ala112=) c.468C>G (p.Ala156=) n.708C>G | |
6 | g.33435155C>T | CA450106882 | SYNGAP1 | c.255C>T (p.Ala85=) c.513C>T (p.Ala171=) c.336C>T (p.Ala112=) c.468C>T (p.Ala156=) n.708C>T | |
6 | g.33435156C>A | CA450106884 | SYNGAP1 | c.256C>A (p.Arg86=) c.514C>A (p.Arg172=) c.337C>A (p.Arg113=) c.469C>A (p.Arg157=) n.709C>A | ClinVar |
6 | g.33435156C= | CA1620011302 | SYNGAP1 | c.256C= (p.Arg86=) c.514C= (p.Arg172=) c.337C= (p.Arg113=) c.469C= (p.Arg157=) n.709C= | |
6 | g.33435156C>G | CA363681969 | SYNGAP1 | c.256C>G (p.Arg86Gly) c.514C>G (p.Arg172Gly) c.337C>G (p.Arg113Gly) c.469C>G (p.Arg157Gly) n.709C>G | |
6 | g.33435156C>T | CA3758524 | SYNGAP1 | c.256C>T (p.Arg86Trp) c.514C>T (p.Arg172Trp) c.337C>T (p.Arg113Trp) c.469C>T (p.Arg157Trp) n.709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |