UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.70485998G>A | CA6160944 | SHANK2 | c.2528C>T (p.Pro843Leu) c.757+4305C>T (n.757+4305C>T) c.4295C>T (p.Pro1432Leu) c.1723C>T c.3158C>T (p.Pro1053Leu) c.2585C>T (p.Pro862Leu) c.2531C>T (p.Pro844Leu) c.718+4305C>T (n.718+4305C>T) c.2507C>T (p.Pro836Leu) c.755+4305C>T c.2132C>T (p.Pro711Leu) n.833+4305C>T c.4265C>T (p.Pro1422Leu) c.4307C>T (p.Pro1436Leu) c.4286C>T (p.Pro1429Leu) c.4280C>T (p.Pro1427Leu) c.4259C>T (p.Pro1420Leu) c.3170C>T (p.Pro1057Leu) c.4268C>T (p.Pro1423Leu) n.834+4305C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70485998G>C | CA381682941 | SHANK2 | c.2528C>G (p.Pro843Arg) c.757+4305C>G (n.757+4305C>G) c.4295C>G (p.Pro1432Arg) c.1723C>G c.3158C>G (p.Pro1053Arg) c.2585C>G (p.Pro862Arg) c.2531C>G (p.Pro844Arg) c.718+4305C>G (n.718+4305C>G) c.2507C>G (p.Pro836Arg) c.755+4305C>G c.2132C>G (p.Pro711Arg) n.833+4305C>G c.4265C>G (p.Pro1422Arg) c.4307C>G (p.Pro1436Arg) c.4286C>G (p.Pro1429Arg) c.4280C>G (p.Pro1427Arg) c.4259C>G (p.Pro1420Arg) c.3170C>G (p.Pro1057Arg) c.4268C>G (p.Pro1423Arg) n.834+4305C>G | |
| 11 | g.70485998G= | CA1981074249 | SHANK2 | c.2528C= (p.Pro843=) c.757+4305C= (n.757+4305C=) c.4295C= (p.Pro1432=) c.1723C= c.3158C= (p.Pro1053=) c.2585C= (p.Pro862=) c.2531C= (p.Pro844=) c.718+4305C= (n.718+4305C=) c.2507C= (p.Pro836=) c.755+4305C= c.2132C= (p.Pro711=) n.833+4305C= c.4265C= (p.Pro1422=) c.4307C= (p.Pro1436=) c.4286C= (p.Pro1429=) c.4280C= (p.Pro1427=) c.4259C= (p.Pro1420=) c.3170C= (p.Pro1057=) c.4268C= (p.Pro1423=) n.834+4305C= | |
| 11 | g.70485998G>T | CA381682938 | SHANK2 | c.2528C>A (p.Pro843Gln) c.757+4305C>A (n.757+4305C>A) c.4295C>A (p.Pro1432Gln) c.1723C>A c.3158C>A (p.Pro1053Gln) c.2585C>A (p.Pro862Gln) c.2531C>A (p.Pro844Gln) c.718+4305C>A (n.718+4305C>A) c.2507C>A (p.Pro836Gln) c.755+4305C>A c.2132C>A (p.Pro711Gln) n.833+4305C>A c.4265C>A (p.Pro1422Gln) c.4307C>A (p.Pro1436Gln) c.4286C>A (p.Pro1429Gln) c.4280C>A (p.Pro1427Gln) c.4259C>A (p.Pro1420Gln) c.3170C>A (p.Pro1057Gln) c.4268C>A (p.Pro1423Gln) n.834+4305C>A | |
| 11 | g.70485999G>A | CA381682947 | SHANK2 | c.2527C>T (p.Pro843Ser) c.757+4304C>T (n.757+4304C>T) c.4294C>T (p.Pro1432Ser) c.1722C>T c.3157C>T (p.Pro1053Ser) c.2584C>T (p.Pro862Ser) c.2530C>T (p.Pro844Ser) c.718+4304C>T (n.718+4304C>T) c.2506C>T (p.Pro836Ser) c.755+4304C>T c.2131C>T (p.Pro711Ser) n.833+4304C>T c.4264C>T (p.Pro1422Ser) c.4306C>T (p.Pro1436Ser) c.4285C>T (p.Pro1429Ser) c.4279C>T (p.Pro1427Ser) c.4258C>T (p.Pro1420Ser) c.3169C>T (p.Pro1057Ser) c.4267C>T (p.Pro1423Ser) n.834+4304C>T | gnomAD v4 |
| 11 | g.70485999G>C | CA381682950 | SHANK2 | c.2527C>G (p.Pro843Ala) c.757+4304C>G (n.757+4304C>G) c.4294C>G (p.Pro1432Ala) c.1722C>G c.3157C>G (p.Pro1053Ala) c.2584C>G (p.Pro862Ala) c.2530C>G (p.Pro844Ala) c.718+4304C>G (n.718+4304C>G) c.2506C>G (p.Pro836Ala) c.755+4304C>G c.2131C>G (p.Pro711Ala) n.833+4304C>G c.4264C>G (p.Pro1422Ala) c.4306C>G (p.Pro1436Ala) c.4285C>G (p.Pro1429Ala) c.4279C>G (p.Pro1427Ala) c.4258C>G (p.Pro1420Ala) c.3169C>G (p.Pro1057Ala) c.4267C>G (p.Pro1423Ala) n.834+4304C>G | |
| 11 | g.70485999G>T | CA381682952 | SHANK2 | c.2527C>A (p.Pro843Thr) c.757+4304C>A (n.757+4304C>A) c.4294C>A (p.Pro1432Thr) c.1722C>A c.3157C>A (p.Pro1053Thr) c.2584C>A (p.Pro862Thr) c.2530C>A (p.Pro844Thr) c.718+4304C>A (n.718+4304C>A) c.2506C>A (p.Pro836Thr) c.755+4304C>A c.2131C>A (p.Pro711Thr) n.833+4304C>A c.4264C>A (p.Pro1422Thr) c.4306C>A (p.Pro1436Thr) c.4285C>A (p.Pro1429Thr) c.4279C>A (p.Pro1427Thr) c.4258C>A (p.Pro1420Thr) c.3169C>A (p.Pro1057Thr) c.4267C>A (p.Pro1423Thr) n.834+4304C>A | |
| 11 | g.70486001_70486015del | CA2614838665 | SHANK2 | c.2513_2527del (p.Arg838_Val842del) c.757+4290_757+4304del (n.757+4290_757+4304del) c.4280_4294del (p.Arg1427_Val1431del) c.1708_1722del c.3143_3157del (p.Arg1048_Val1052del) c.2570_2584del (p.Arg857_Val861del) c.2516_2530del (p.Arg839_Val843del) c.718+4290_718+4304del (n.718+4290_718+4304del) c.2492_2506del (p.Arg831_Val835del) c.755+4290_755+4304del c.2117_2131del (p.Arg706_Val710del) n.833+4290_833+4304del c.4250_4264del (p.Arg1417_Val1421del) c.4292_4306del (p.Arg1431_Val1435del) c.4271_4285del (p.Arg1424_Val1428del) c.4265_4279del (p.Arg1422_Val1426del) c.4244_4258del (p.Arg1415_Val1419del) c.3155_3169del (p.Arg1052_Val1056del) c.4253_4267del (p.Arg1418_Val1422del) n.834+4290_834+4304del | gnomAD v4 |
| 11 | g.70486000G>A | CA475471232 | SHANK2 | c.2526C>T (p.Val842=) c.757+4303C>T (n.757+4303C>T) c.4293C>T (p.Val1431=) c.1721C>T c.3156C>T (p.Val1052=) c.2583C>T (p.Val861=) c.2529C>T (p.Val843=) c.718+4303C>T (n.718+4303C>T) c.2505C>T (p.Val835=) c.755+4303C>T c.2130C>T (p.Val710=) n.833+4303C>T c.4263C>T (p.Val1421=) c.4305C>T (p.Val1435=) c.4284C>T (p.Val1428=) c.4278C>T (p.Val1426=) c.4257C>T (p.Val1419=) c.3168C>T (p.Val1056=) c.4266C>T (p.Val1422=) n.834+4303C>T | |
| 11 | g.70486000G>C | CA475471233 | SHANK2 | c.2526C>G (p.Val842=) c.757+4303C>G (n.757+4303C>G) c.4293C>G (p.Val1431=) c.1721C>G c.3156C>G (p.Val1052=) c.2583C>G (p.Val861=) c.2529C>G (p.Val843=) c.718+4303C>G (n.718+4303C>G) c.2505C>G (p.Val835=) c.755+4303C>G c.2130C>G (p.Val710=) n.833+4303C>G c.4263C>G (p.Val1421=) c.4305C>G (p.Val1435=) c.4284C>G (p.Val1428=) c.4278C>G (p.Val1426=) c.4257C>G (p.Val1419=) c.3168C>G (p.Val1056=) c.4266C>G (p.Val1422=) n.834+4303C>G | |
| 11 | g.70486000G>T | CA475471234 | SHANK2 | c.2526C>A (p.Val842=) c.757+4303C>A (n.757+4303C>A) c.4293C>A (p.Val1431=) c.1721C>A c.3156C>A (p.Val1052=) c.2583C>A (p.Val861=) c.2529C>A (p.Val843=) c.718+4303C>A (n.718+4303C>A) c.2505C>A (p.Val835=) c.755+4303C>A c.2130C>A (p.Val710=) n.833+4303C>A c.4263C>A (p.Val1421=) c.4305C>A (p.Val1435=) c.4284C>A (p.Val1428=) c.4278C>A (p.Val1426=) c.4257C>A (p.Val1419=) c.3168C>A (p.Val1056=) c.4266C>A (p.Val1422=) n.834+4303C>A | |
| 11 | g.70486001A>C | CA381682956 | SHANK2 | c.2525T>G (p.Val842Gly) c.757+4302T>G (n.757+4302T>G) c.4292T>G (p.Val1431Gly) c.1720T>G c.3155T>G (p.Val1052Gly) c.2582T>G (p.Val861Gly) c.2528T>G (p.Val843Gly) c.718+4302T>G (n.718+4302T>G) c.2504T>G (p.Val835Gly) c.755+4302T>G c.2129T>G (p.Val710Gly) n.833+4302T>G c.4262T>G (p.Val1421Gly) c.4304T>G (p.Val1435Gly) c.4283T>G (p.Val1428Gly) c.4277T>G (p.Val1426Gly) c.4256T>G (p.Val1419Gly) c.3167T>G (p.Val1056Gly) c.4265T>G (p.Val1422Gly) n.834+4302T>G | |
| 11 | g.70486001A>G | CA381682957 | SHANK2 | c.2525T>C (p.Val842Ala) c.757+4302T>C (n.757+4302T>C) c.4292T>C (p.Val1431Ala) c.1720T>C c.3155T>C (p.Val1052Ala) c.2582T>C (p.Val861Ala) c.2528T>C (p.Val843Ala) c.718+4302T>C (n.718+4302T>C) c.2504T>C (p.Val835Ala) c.755+4302T>C c.2129T>C (p.Val710Ala) n.833+4302T>C c.4262T>C (p.Val1421Ala) c.4304T>C (p.Val1435Ala) c.4283T>C (p.Val1428Ala) c.4277T>C (p.Val1426Ala) c.4256T>C (p.Val1419Ala) c.3167T>C (p.Val1056Ala) c.4265T>C (p.Val1422Ala) n.834+4302T>C | |
| 11 | g.70486001A>T | CA381682959 | SHANK2 | c.2525T>A (p.Val842Asp) c.757+4302T>A (n.757+4302T>A) c.4292T>A (p.Val1431Asp) c.1720T>A c.3155T>A (p.Val1052Asp) c.2582T>A (p.Val861Asp) c.2528T>A (p.Val843Asp) c.718+4302T>A (n.718+4302T>A) c.2504T>A (p.Val835Asp) c.755+4302T>A c.2129T>A (p.Val710Asp) n.833+4302T>A c.4262T>A (p.Val1421Asp) c.4304T>A (p.Val1435Asp) c.4283T>A (p.Val1428Asp) c.4277T>A (p.Val1426Asp) c.4256T>A (p.Val1419Asp) c.3167T>A (p.Val1056Asp) c.4265T>A (p.Val1422Asp) n.834+4302T>A | |
| 11 | g.70486002C>A | CA381682963 | SHANK2 | c.2524G>T (p.Val842Phe) c.757+4301G>T (n.757+4301G>T) c.4291G>T (p.Val1431Phe) c.1719G>T c.3154G>T (p.Val1052Phe) c.2581G>T (p.Val861Phe) c.2527G>T (p.Val843Phe) c.718+4301G>T (n.718+4301G>T) c.2503G>T (p.Val835Phe) c.755+4301G>T c.2128G>T (p.Val710Phe) n.833+4301G>T c.4261G>T (p.Val1421Phe) c.4303G>T (p.Val1435Phe) c.4282G>T (p.Val1428Phe) c.4276G>T (p.Val1426Phe) c.4255G>T (p.Val1419Phe) c.3166G>T (p.Val1056Phe) c.4264G>T (p.Val1422Phe) n.834+4301G>T | |
| 11 | g.70486002C>G | CA381682969 | SHANK2 | c.2524G>C (p.Val842Leu) c.757+4301G>C (n.757+4301G>C) c.4291G>C (p.Val1431Leu) c.1719G>C c.3154G>C (p.Val1052Leu) c.2581G>C (p.Val861Leu) c.2527G>C (p.Val843Leu) c.718+4301G>C (n.718+4301G>C) c.2503G>C (p.Val835Leu) c.755+4301G>C c.2128G>C (p.Val710Leu) n.833+4301G>C c.4261G>C (p.Val1421Leu) c.4303G>C (p.Val1435Leu) c.4282G>C (p.Val1428Leu) c.4276G>C (p.Val1426Leu) c.4255G>C (p.Val1419Leu) c.3166G>C (p.Val1056Leu) c.4264G>C (p.Val1422Leu) n.834+4301G>C | |
| 11 | g.70486002C>T | CA381682966 | SHANK2 | c.2524G>A (p.Val842Ile) c.757+4301G>A (n.757+4301G>A) c.4291G>A (p.Val1431Ile) c.1719G>A c.3154G>A (p.Val1052Ile) c.2581G>A (p.Val861Ile) c.2527G>A (p.Val843Ile) c.718+4301G>A (n.718+4301G>A) c.2503G>A (p.Val835Ile) c.755+4301G>A c.2128G>A (p.Val710Ile) n.833+4301G>A c.4261G>A (p.Val1421Ile) c.4303G>A (p.Val1435Ile) c.4282G>A (p.Val1428Ile) c.4276G>A (p.Val1426Ile) c.4255G>A (p.Val1419Ile) c.3166G>A (p.Val1056Ile) c.4264G>A (p.Val1422Ile) n.834+4301G>A | |
| 11 | g.70486003A>C | CA475471239 | SHANK2 | c.2523T>G (p.Ser841=) c.757+4300T>G (n.757+4300T>G) c.4290T>G (p.Ser1430=) c.1718T>G c.3153T>G (p.Ser1051=) c.2580T>G (p.Ser860=) c.2526T>G (p.Ser842=) c.718+4300T>G (n.718+4300T>G) c.2502T>G (p.Ser834=) c.755+4300T>G c.2127T>G (p.Ser709=) n.833+4300T>G c.4260T>G (p.Ser1420=) c.4302T>G (p.Ser1434=) c.4281T>G (p.Ser1427=) c.4275T>G (p.Ser1425=) c.4254T>G (p.Ser1418=) c.3165T>G (p.Ser1055=) c.4263T>G (p.Ser1421=) n.834+4300T>G | |
| 11 | g.70486003A>G | CA475471238 | SHANK2 | c.2523T>C (p.Ser841=) c.757+4300T>C (n.757+4300T>C) c.4290T>C (p.Ser1430=) c.1718T>C c.3153T>C (p.Ser1051=) c.2580T>C (p.Ser860=) c.2526T>C (p.Ser842=) c.718+4300T>C (n.718+4300T>C) c.2502T>C (p.Ser834=) c.755+4300T>C c.2127T>C (p.Ser709=) n.833+4300T>C c.4260T>C (p.Ser1420=) c.4302T>C (p.Ser1434=) c.4281T>C (p.Ser1427=) c.4275T>C (p.Ser1425=) c.4254T>C (p.Ser1418=) c.3165T>C (p.Ser1055=) c.4263T>C (p.Ser1421=) n.834+4300T>C | |
| 11 | g.70486003A>T | CA475471237 | SHANK2 | c.2523T>A (p.Ser841=) c.757+4300T>A (n.757+4300T>A) c.4290T>A (p.Ser1430=) c.1718T>A c.3153T>A (p.Ser1051=) c.2580T>A (p.Ser860=) c.2526T>A (p.Ser842=) c.718+4300T>A (n.718+4300T>A) c.2502T>A (p.Ser834=) c.755+4300T>A c.2127T>A (p.Ser709=) n.833+4300T>A c.4260T>A (p.Ser1420=) c.4302T>A (p.Ser1434=) c.4281T>A (p.Ser1427=) c.4275T>A (p.Ser1425=) c.4254T>A (p.Ser1418=) c.3165T>A (p.Ser1055=) c.4263T>A (p.Ser1421=) n.834+4300T>A | |
| 11 | g.70486004G>A | CA381682972 | SHANK2 | c.2522C>T (p.Ser841Phe) c.757+4299C>T (n.757+4299C>T) c.4289C>T (p.Ser1430Phe) c.1717C>T c.3152C>T (p.Ser1051Phe) c.2579C>T (p.Ser860Phe) c.2525C>T (p.Ser842Phe) c.718+4299C>T (n.718+4299C>T) c.2501C>T (p.Ser834Phe) c.755+4299C>T c.2126C>T (p.Ser709Phe) n.833+4299C>T c.4259C>T (p.Ser1420Phe) c.4301C>T (p.Ser1434Phe) c.4280C>T (p.Ser1427Phe) c.4274C>T (p.Ser1425Phe) c.4253C>T (p.Ser1418Phe) c.3164C>T (p.Ser1055Phe) c.4262C>T (p.Ser1421Phe) n.834+4299C>T | |
| 11 | g.70486004G>C | CA381682975 | SHANK2 | c.2522C>G (p.Ser841Cys) c.757+4299C>G (n.757+4299C>G) c.4289C>G (p.Ser1430Cys) c.1717C>G c.3152C>G (p.Ser1051Cys) c.2579C>G (p.Ser860Cys) c.2525C>G (p.Ser842Cys) c.718+4299C>G (n.718+4299C>G) c.2501C>G (p.Ser834Cys) c.755+4299C>G c.2126C>G (p.Ser709Cys) n.833+4299C>G c.4259C>G (p.Ser1420Cys) c.4301C>G (p.Ser1434Cys) c.4280C>G (p.Ser1427Cys) c.4274C>G (p.Ser1425Cys) c.4253C>G (p.Ser1418Cys) c.3164C>G (p.Ser1055Cys) c.4262C>G (p.Ser1421Cys) n.834+4299C>G | |
| 11 | g.70486004G>T | CA381682976 | SHANK2 | c.2522C>A (p.Ser841Tyr) c.757+4299C>A (n.757+4299C>A) c.4289C>A (p.Ser1430Tyr) c.1717C>A c.3152C>A (p.Ser1051Tyr) c.2579C>A (p.Ser860Tyr) c.2525C>A (p.Ser842Tyr) c.718+4299C>A (n.718+4299C>A) c.2501C>A (p.Ser834Tyr) c.755+4299C>A c.2126C>A (p.Ser709Tyr) n.833+4299C>A c.4259C>A (p.Ser1420Tyr) c.4301C>A (p.Ser1434Tyr) c.4280C>A (p.Ser1427Tyr) c.4274C>A (p.Ser1425Tyr) c.4253C>A (p.Ser1418Tyr) c.3164C>A (p.Ser1055Tyr) c.4262C>A (p.Ser1421Tyr) n.834+4299C>A | |
| 11 | g.70486005A>C | CA381682980 | SHANK2 | c.2521T>G (p.Ser841Ala) c.757+4298T>G (n.757+4298T>G) c.4288T>G (p.Ser1430Ala) c.1716T>G c.3151T>G (p.Ser1051Ala) c.2578T>G (p.Ser860Ala) c.2524T>G (p.Ser842Ala) c.718+4298T>G (n.718+4298T>G) c.2500T>G (p.Ser834Ala) c.755+4298T>G c.2125T>G (p.Ser709Ala) n.833+4298T>G c.4258T>G (p.Ser1420Ala) c.4300T>G (p.Ser1434Ala) c.4279T>G (p.Ser1427Ala) c.4273T>G (p.Ser1425Ala) c.4252T>G (p.Ser1418Ala) c.3163T>G (p.Ser1055Ala) c.4261T>G (p.Ser1421Ala) n.834+4298T>G | |
| 11 | g.70486005A>G | CA381682982 | SHANK2 | c.2521T>C (p.Ser841Pro) c.757+4298T>C (n.757+4298T>C) c.4288T>C (p.Ser1430Pro) c.1716T>C c.3151T>C (p.Ser1051Pro) c.2578T>C (p.Ser860Pro) c.2524T>C (p.Ser842Pro) c.718+4298T>C (n.718+4298T>C) c.2500T>C (p.Ser834Pro) c.755+4298T>C c.2125T>C (p.Ser709Pro) n.833+4298T>C c.4258T>C (p.Ser1420Pro) c.4300T>C (p.Ser1434Pro) c.4279T>C (p.Ser1427Pro) c.4273T>C (p.Ser1425Pro) c.4252T>C (p.Ser1418Pro) c.3163T>C (p.Ser1055Pro) c.4261T>C (p.Ser1421Pro) n.834+4298T>C | |
| 11 | g.70486005A>T | CA381682984 | SHANK2 | c.2521T>A (p.Ser841Thr) c.757+4298T>A (n.757+4298T>A) c.4288T>A (p.Ser1430Thr) c.1716T>A c.3151T>A (p.Ser1051Thr) c.2578T>A (p.Ser860Thr) c.2524T>A (p.Ser842Thr) c.718+4298T>A (n.718+4298T>A) c.2500T>A (p.Ser834Thr) c.755+4298T>A c.2125T>A (p.Ser709Thr) n.833+4298T>A c.4258T>A (p.Ser1420Thr) c.4300T>A (p.Ser1434Thr) c.4279T>A (p.Ser1427Thr) c.4273T>A (p.Ser1425Thr) c.4252T>A (p.Ser1418Thr) c.3163T>A (p.Ser1055Thr) c.4261T>A (p.Ser1421Thr) n.834+4298T>A | |
| 11 | g.70486006del | CA2614838673 | SHANK2 | c.2521del (p.Ser841LeufsTer8) c.757+4298del (n.757+4298del) c.4288del (p.Ser1430LeufsTer8) c.1716del c.3151del (p.Ser1051LeufsTer8) c.2578del (p.Ser860LeufsTer8) c.2524del (p.Ser842LeufsTer8) c.718+4298del (n.718+4298del) c.2500del (p.Ser834LeufsTer8) c.755+4298del c.2125del (p.Ser709LeufsTer8) n.833+4298del c.4258del (p.Ser1420LeufsTer8) c.4300del (p.Ser1434LeufsTer8) c.4279del (p.Ser1427LeufsTer8) c.4273del (p.Ser1425LeufsTer8) c.4252del (p.Ser1418LeufsTer8) c.3163del (p.Ser1055LeufsTer8) c.4261del (p.Ser1421LeufsTer8) n.834+4298del | gnomAD v4 |
| 11 | g.70486006A= | CA1981074254 | SHANK2 | c.2520T= (p.Ala840=) c.757+4297T= (n.757+4297T=) c.4287T= (p.Ala1429=) c.1715T= c.3150T= (p.Ala1050=) c.2577T= (p.Ala859=) c.2523T= (p.Ala841=) c.718+4297T= (n.718+4297T=) c.2499T= (p.Ala833=) c.755+4297T= c.2124T= (p.Ala708=) n.833+4297T= c.4257T= (p.Ala1419=) c.4299T= (p.Ala1433=) c.4278T= (p.Ala1426=) c.4272T= (p.Ala1424=) c.4251T= (p.Ala1417=) c.3162T= (p.Ala1054=) c.4260T= (p.Ala1420=) n.834+4297T= | |
| 11 | g.70486006A>C | CA475471242 | SHANK2 | c.2520T>G (p.Ala840=) c.757+4297T>G (n.757+4297T>G) c.4287T>G (p.Ala1429=) c.1715T>G c.3150T>G (p.Ala1050=) c.2577T>G (p.Ala859=) c.2523T>G (p.Ala841=) c.718+4297T>G (n.718+4297T>G) c.2499T>G (p.Ala833=) c.755+4297T>G c.2124T>G (p.Ala708=) n.833+4297T>G c.4257T>G (p.Ala1419=) c.4299T>G (p.Ala1433=) c.4278T>G (p.Ala1426=) c.4272T>G (p.Ala1424=) c.4251T>G (p.Ala1417=) c.3162T>G (p.Ala1054=) c.4260T>G (p.Ala1420=) n.834+4297T>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.70486006A>G | CA6160945 | SHANK2 | c.2520T>C (p.Ala840=) c.757+4297T>C (n.757+4297T>C) c.4287T>C (p.Ala1429=) c.1715T>C c.3150T>C (p.Ala1050=) c.2577T>C (p.Ala859=) c.2523T>C (p.Ala841=) c.718+4297T>C (n.718+4297T>C) c.2499T>C (p.Ala833=) c.755+4297T>C c.2124T>C (p.Ala708=) n.833+4297T>C c.4257T>C (p.Ala1419=) c.4299T>C (p.Ala1433=) c.4278T>C (p.Ala1426=) c.4272T>C (p.Ala1424=) c.4251T>C (p.Ala1417=) c.3162T>C (p.Ala1054=) c.4260T>C (p.Ala1420=) n.834+4297T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70486006A>T | CA475471244 | SHANK2 | c.2520T>A (p.Ala840=) c.757+4297T>A (n.757+4297T>A) c.4287T>A (p.Ala1429=) c.1715T>A c.3150T>A (p.Ala1050=) c.2577T>A (p.Ala859=) c.2523T>A (p.Ala841=) c.718+4297T>A (n.718+4297T>A) c.2499T>A (p.Ala833=) c.755+4297T>A c.2124T>A (p.Ala708=) n.833+4297T>A c.4257T>A (p.Ala1419=) c.4299T>A (p.Ala1433=) c.4278T>A (p.Ala1426=) c.4272T>A (p.Ala1424=) c.4251T>A (p.Ala1417=) c.3162T>A (p.Ala1054=) c.4260T>A (p.Ala1420=) n.834+4297T>A | |
| 11 | g.70486007G>A | CA381683003 | SHANK2 | c.2519C>T (p.Ala840Val) c.757+4296C>T (n.757+4296C>T) c.4286C>T (p.Ala1429Val) c.1714C>T c.3149C>T (p.Ala1050Val) c.2576C>T (p.Ala859Val) c.2522C>T (p.Ala841Val) c.718+4296C>T (n.718+4296C>T) c.2498C>T (p.Ala833Val) c.755+4296C>T c.2123C>T (p.Ala708Val) n.833+4296C>T c.4256C>T (p.Ala1419Val) c.4298C>T (p.Ala1433Val) c.4277C>T (p.Ala1426Val) c.4271C>T (p.Ala1424Val) c.4250C>T (p.Ala1417Val) c.3161C>T (p.Ala1054Val) c.4259C>T (p.Ala1420Val) n.834+4296C>T | |
| 11 | g.70486007G>C | CA381683004 | SHANK2 | c.2519C>G (p.Ala840Gly) c.757+4296C>G (n.757+4296C>G) c.4286C>G (p.Ala1429Gly) c.1714C>G c.3149C>G (p.Ala1050Gly) c.2576C>G (p.Ala859Gly) c.2522C>G (p.Ala841Gly) c.718+4296C>G (n.718+4296C>G) c.2498C>G (p.Ala833Gly) c.755+4296C>G c.2123C>G (p.Ala708Gly) n.833+4296C>G c.4256C>G (p.Ala1419Gly) c.4298C>G (p.Ala1433Gly) c.4277C>G (p.Ala1426Gly) c.4271C>G (p.Ala1424Gly) c.4250C>G (p.Ala1417Gly) c.3161C>G (p.Ala1054Gly) c.4259C>G (p.Ala1420Gly) n.834+4296C>G | |
| 11 | g.70486007G>T | CA381683007 | SHANK2 | c.2519C>A (p.Ala840Asp) c.757+4296C>A (n.757+4296C>A) c.4286C>A (p.Ala1429Asp) c.1714C>A c.3149C>A (p.Ala1050Asp) c.2576C>A (p.Ala859Asp) c.2522C>A (p.Ala841Asp) c.718+4296C>A (n.718+4296C>A) c.2498C>A (p.Ala833Asp) c.755+4296C>A c.2123C>A (p.Ala708Asp) n.833+4296C>A c.4256C>A (p.Ala1419Asp) c.4298C>A (p.Ala1433Asp) c.4277C>A (p.Ala1426Asp) c.4271C>A (p.Ala1424Asp) c.4250C>A (p.Ala1417Asp) c.3161C>A (p.Ala1054Asp) c.4259C>A (p.Ala1420Asp) n.834+4296C>A | |
| 11 | g.70486008C>A | CA381683014 | SHANK2 | c.2518G>T (p.Ala840Ser) c.757+4295G>T (n.757+4295G>T) c.4285G>T (p.Ala1429Ser) c.1713G>T c.3148G>T (p.Ala1050Ser) c.2575G>T (p.Ala859Ser) c.2521G>T (p.Ala841Ser) c.718+4295G>T (n.718+4295G>T) c.2497G>T (p.Ala833Ser) c.755+4295G>T c.2122G>T (p.Ala708Ser) n.833+4295G>T c.4255G>T (p.Ala1419Ser) c.4297G>T (p.Ala1433Ser) c.4276G>T (p.Ala1426Ser) c.4270G>T (p.Ala1424Ser) c.4249G>T (p.Ala1417Ser) c.3160G>T (p.Ala1054Ser) c.4258G>T (p.Ala1420Ser) n.834+4295G>T | |
| 11 | g.70486008C= | CA1981074262 | SHANK2 | c.2518G= (p.Ala840=) c.757+4295G= (n.757+4295G=) c.4285G= (p.Ala1429=) c.1713G= c.3148G= (p.Ala1050=) c.2575G= (p.Ala859=) c.2521G= (p.Ala841=) c.718+4295G= (n.718+4295G=) c.2497G= (p.Ala833=) c.755+4295G= c.2122G= (p.Ala708=) n.833+4295G= c.4255G= (p.Ala1419=) c.4297G= (p.Ala1433=) c.4276G= (p.Ala1426=) c.4270G= (p.Ala1424=) c.4249G= (p.Ala1417=) c.3160G= (p.Ala1054=) c.4258G= (p.Ala1420=) n.834+4295G= | |
| 11 | g.70486008C>G | CA381683012 | SHANK2 | c.2518G>C (p.Ala840Pro) c.757+4295G>C (n.757+4295G>C) c.4285G>C (p.Ala1429Pro) c.1713G>C c.3148G>C (p.Ala1050Pro) c.2575G>C (p.Ala859Pro) c.2521G>C (p.Ala841Pro) c.718+4295G>C (n.718+4295G>C) c.2497G>C (p.Ala833Pro) c.755+4295G>C c.2122G>C (p.Ala708Pro) n.833+4295G>C c.4255G>C (p.Ala1419Pro) c.4297G>C (p.Ala1433Pro) c.4276G>C (p.Ala1426Pro) c.4270G>C (p.Ala1424Pro) c.4249G>C (p.Ala1417Pro) c.3160G>C (p.Ala1054Pro) c.4258G>C (p.Ala1420Pro) n.834+4295G>C | |
| 11 | g.70486008C>T | CA6160946 | SHANK2 | c.2518G>A (p.Ala840Thr) c.757+4295G>A (n.757+4295G>A) c.4285G>A (p.Ala1429Thr) c.1713G>A c.3148G>A (p.Ala1050Thr) c.2575G>A (p.Ala859Thr) c.2521G>A (p.Ala841Thr) c.718+4295G>A (n.718+4295G>A) c.2497G>A (p.Ala833Thr) c.755+4295G>A c.2122G>A (p.Ala708Thr) n.833+4295G>A c.4255G>A (p.Ala1419Thr) c.4297G>A (p.Ala1433Thr) c.4276G>A (p.Ala1426Thr) c.4270G>A (p.Ala1424Thr) c.4249G>A (p.Ala1417Thr) c.3160G>A (p.Ala1054Thr) c.4258G>A (p.Ala1420Thr) n.834+4295G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.70486008_70486009del | CA2614838683 | SHANK2 | c.2517_2518del (p.Ala840PhefsTer?) c.757+4294_757+4295del (n.757+4294_757+4295del) c.4284_4285del (p.Ala1429PhefsTer?) c.1712_1713del c.3147_3148del (p.Ala1050PhefsTer?) c.2574_2575del (p.Ala859PhefsTer?) c.2520_2521del (p.Ala841PhefsTer?) c.718+4294_718+4295del (n.718+4294_718+4295del) c.2496_2497del (p.Ala833PhefsTer?) c.755+4294_755+4295del c.2121_2122del (p.Ala708PhefsTer?) n.833+4294_833+4295del c.4254_4255del (p.Ala1419PhefsTer?) c.4296_4297del (p.Ala1433PhefsTer?) c.4275_4276del (p.Ala1426PhefsTer?) c.4269_4270del (p.Ala1424PhefsTer?) c.4248_4249del (p.Ala1417PhefsTer?) c.3159_3160del (p.Ala1054PhefsTer?) c.4257_4258del (p.Ala1420PhefsTer?) n.834+4294_834+4295del | gnomAD v4 |
| 11 | g.70486009T>A | CA475471249 | SHANK2 | c.2517A>T (p.Ala839=) c.757+4294A>T (n.757+4294A>T) c.4284A>T (p.Ala1428=) c.1712A>T c.3147A>T (p.Ala1049=) c.2574A>T (p.Ala858=) c.2520A>T (p.Ala840=) c.718+4294A>T (n.718+4294A>T) c.2496A>T (p.Ala832=) c.755+4294A>T c.2121A>T (p.Ala707=) n.833+4294A>T c.4254A>T (p.Ala1418=) c.4296A>T (p.Ala1432=) c.4275A>T (p.Ala1425=) c.4269A>T (p.Ala1423=) c.4248A>T (p.Ala1416=) c.3159A>T (p.Ala1053=) c.4257A>T (p.Ala1419=) n.834+4294A>T | |
| 11 | g.70486009T>C | CA475471247 | SHANK2 | c.2517A>G (p.Ala839=) c.757+4294A>G (n.757+4294A>G) c.4284A>G (p.Ala1428=) c.1712A>G c.3147A>G (p.Ala1049=) c.2574A>G (p.Ala858=) c.2520A>G (p.Ala840=) c.718+4294A>G (n.718+4294A>G) c.2496A>G (p.Ala832=) c.755+4294A>G c.2121A>G (p.Ala707=) n.833+4294A>G c.4254A>G (p.Ala1418=) c.4296A>G (p.Ala1432=) c.4275A>G (p.Ala1425=) c.4269A>G (p.Ala1423=) c.4248A>G (p.Ala1416=) c.3159A>G (p.Ala1053=) c.4257A>G (p.Ala1419=) n.834+4294A>G | gnomAD v4 |
| 11 | g.70486009T>G | CA475471248 | SHANK2 | c.2517A>C (p.Ala839=) c.757+4294A>C (n.757+4294A>C) c.4284A>C (p.Ala1428=) c.1712A>C c.3147A>C (p.Ala1049=) c.2574A>C (p.Ala858=) c.2520A>C (p.Ala840=) c.718+4294A>C (n.718+4294A>C) c.2496A>C (p.Ala832=) c.755+4294A>C c.2121A>C (p.Ala707=) n.833+4294A>C c.4254A>C (p.Ala1418=) c.4296A>C (p.Ala1432=) c.4275A>C (p.Ala1425=) c.4269A>C (p.Ala1423=) c.4248A>C (p.Ala1416=) c.3159A>C (p.Ala1053=) c.4257A>C (p.Ala1419=) n.834+4294A>C | |
| 11 | g.70486010G>A | CA381683017 | SHANK2 | c.2516C>T (p.Ala839Val) c.757+4293C>T (n.757+4293C>T) c.4283C>T (p.Ala1428Val) c.1711C>T c.3146C>T (p.Ala1049Val) c.2573C>T (p.Ala858Val) c.2519C>T (p.Ala840Val) c.718+4293C>T (n.718+4293C>T) c.2495C>T (p.Ala832Val) c.755+4293C>T c.2120C>T (p.Ala707Val) n.833+4293C>T c.4253C>T (p.Ala1418Val) c.4295C>T (p.Ala1432Val) c.4274C>T (p.Ala1425Val) c.4268C>T (p.Ala1423Val) c.4247C>T (p.Ala1416Val) c.3158C>T (p.Ala1053Val) c.4256C>T (p.Ala1419Val) n.834+4293C>T | |
| 11 | g.70486010G>C | CA381683021 | SHANK2 | c.2516C>G (p.Ala839Gly) c.757+4293C>G (n.757+4293C>G) c.4283C>G (p.Ala1428Gly) c.1711C>G c.3146C>G (p.Ala1049Gly) c.2573C>G (p.Ala858Gly) c.2519C>G (p.Ala840Gly) c.718+4293C>G (n.718+4293C>G) c.2495C>G (p.Ala832Gly) c.755+4293C>G c.2120C>G (p.Ala707Gly) n.833+4293C>G c.4253C>G (p.Ala1418Gly) c.4295C>G (p.Ala1432Gly) c.4274C>G (p.Ala1425Gly) c.4268C>G (p.Ala1423Gly) c.4247C>G (p.Ala1416Gly) c.3158C>G (p.Ala1053Gly) c.4256C>G (p.Ala1419Gly) n.834+4293C>G | |
| 11 | g.70486010G>T | CA381683019 | SHANK2 | c.2516C>A (p.Ala839Glu) c.757+4293C>A (n.757+4293C>A) c.4283C>A (p.Ala1428Glu) c.1711C>A c.3146C>A (p.Ala1049Glu) c.2573C>A (p.Ala858Glu) c.2519C>A (p.Ala840Glu) c.718+4293C>A (n.718+4293C>A) c.2495C>A (p.Ala832Glu) c.755+4293C>A c.2120C>A (p.Ala707Glu) n.833+4293C>A c.4253C>A (p.Ala1418Glu) c.4295C>A (p.Ala1432Glu) c.4274C>A (p.Ala1425Glu) c.4268C>A (p.Ala1423Glu) c.4247C>A (p.Ala1416Glu) c.3158C>A (p.Ala1053Glu) c.4256C>A (p.Ala1419Glu) n.834+4293C>A | |
| 11 | g.70486011C>A | CA381683024 | SHANK2 | c.2515G>T (p.Ala839Ser) c.757+4292G>T (n.757+4292G>T) c.4282G>T (p.Ala1428Ser) c.1710G>T c.3145G>T (p.Ala1049Ser) c.2572G>T (p.Ala858Ser) c.2518G>T (p.Ala840Ser) c.718+4292G>T (n.718+4292G>T) c.2494G>T (p.Ala832Ser) c.755+4292G>T c.2119G>T (p.Ala707Ser) n.833+4292G>T c.4252G>T (p.Ala1418Ser) c.4294G>T (p.Ala1432Ser) c.4273G>T (p.Ala1425Ser) c.4267G>T (p.Ala1423Ser) c.4246G>T (p.Ala1416Ser) c.3157G>T (p.Ala1053Ser) c.4255G>T (p.Ala1419Ser) n.834+4292G>T | |
| 11 | g.70486011C>G | CA381683033 | SHANK2 | c.2515G>C (p.Ala839Pro) c.757+4292G>C (n.757+4292G>C) c.4282G>C (p.Ala1428Pro) c.1710G>C c.3145G>C (p.Ala1049Pro) c.2572G>C (p.Ala858Pro) c.2518G>C (p.Ala840Pro) c.718+4292G>C (n.718+4292G>C) c.2494G>C (p.Ala832Pro) c.755+4292G>C c.2119G>C (p.Ala707Pro) n.833+4292G>C c.4252G>C (p.Ala1418Pro) c.4294G>C (p.Ala1432Pro) c.4273G>C (p.Ala1425Pro) c.4267G>C (p.Ala1423Pro) c.4246G>C (p.Ala1416Pro) c.3157G>C (p.Ala1053Pro) c.4255G>C (p.Ala1419Pro) n.834+4292G>C | |
| 11 | g.70486011C>T | CA381683026 | SHANK2 | c.2515G>A (p.Ala839Thr) c.757+4292G>A (n.757+4292G>A) c.4282G>A (p.Ala1428Thr) c.1710G>A c.3145G>A (p.Ala1049Thr) c.2572G>A (p.Ala858Thr) c.2518G>A (p.Ala840Thr) c.718+4292G>A (n.718+4292G>A) c.2494G>A (p.Ala832Thr) c.755+4292G>A c.2119G>A (p.Ala707Thr) n.833+4292G>A c.4252G>A (p.Ala1418Thr) c.4294G>A (p.Ala1432Thr) c.4273G>A (p.Ala1425Thr) c.4267G>A (p.Ala1423Thr) c.4246G>A (p.Ala1416Thr) c.3157G>A (p.Ala1053Thr) c.4255G>A (p.Ala1419Thr) n.834+4292G>A | |
| 11 | g.70486012_70486020dup | CA2792603934 | SHANK2 | c.2507_2515dup (p.Arg838_Ala839insAspAspArg) c.757+4284_757+4292dup (n.757+4284_757+4292dup) c.4274_4282dup (p.Arg1427_Ala1428insAspAspArg) c.1702_1710dup c.3137_3145dup (p.Arg1048_Ala1049insAspAspArg) c.2564_2572dup (p.Arg857_Ala858insAspAspArg) c.2510_2518dup (p.Arg839_Ala840insAspAspArg) c.718+4284_718+4292dup (n.718+4284_718+4292dup) c.2486_2494dup (p.Arg831_Ala832insAspAspArg) c.755+4284_755+4292dup c.2111_2119dup (p.Arg706_Ala707insAspAspArg) n.833+4284_833+4292dup c.4244_4252dup (p.Arg1417_Ala1418insAspAspArg) c.4286_4294dup (p.Arg1431_Ala1432insAspAspArg) c.4265_4273dup (p.Arg1424_Ala1425insAspAspArg) c.4259_4267dup (p.Arg1422_Ala1423insAspAspArg) c.4238_4246dup (p.Arg1415_Ala1416insAspAspArg) c.3149_3157dup (p.Arg1052_Ala1053insAspAspArg) c.4247_4255dup (p.Arg1418_Ala1419insAspAspArg) n.834+4284_834+4292dup | |
| 11 | g.70486012C>A | CA475471255 | SHANK2 | c.2514G>T (p.Arg838=) c.757+4291G>T (n.757+4291G>T) c.4281G>T (p.Arg1427=) c.1709G>T c.3144G>T (p.Arg1048=) c.2571G>T (p.Arg857=) c.2517G>T (p.Arg839=) c.718+4291G>T (n.718+4291G>T) c.2493G>T (p.Arg831=) c.755+4291G>T c.2118G>T (p.Arg706=) n.833+4291G>T c.4251G>T (p.Arg1417=) c.4293G>T (p.Arg1431=) c.4272G>T (p.Arg1424=) c.4266G>T (p.Arg1422=) c.4245G>T (p.Arg1415=) c.3156G>T (p.Arg1052=) c.4254G>T (p.Arg1418=) n.834+4291G>T |