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 |
|---|---|---|---|---|---|
| 22 | g.50722049C>A | CA515264286 | SHANK3 | c.3817C>A (p.Leu1273Ile) n.4401C>A c.2869C>A (p.Leu957Ile) c.2359C>A (p.Leu787Ile) c.*2815C>A (n.*2815C>A) c.4213C>A (p.Leu1405Ile) c.4195C>A (p.Leu1399Ile) | |
| 22 | g.50722049C= | CA2411008596 | SHANK3 | c.3817C= (p.Leu1273=) n.4401C= c.2869C= (p.Leu957=) c.2359C= (p.Leu787=) c.*2815C= (n.*2815C=) c.4213C= (p.Leu1405=) c.4195C= (p.Leu1399=) | |
| 22 | g.50722049C>G | CA10326226 | SHANK3 | c.3817C>G (p.Leu1273Val) n.4401C>G c.2869C>G (p.Leu957Val) c.2359C>G (p.Leu787Val) c.*2815C>G (n.*2815C>G) c.4213C>G (p.Leu1405Val) c.4195C>G (p.Leu1399Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722049C>T | CA515264287 | SHANK3 | c.3817C>T (p.Leu1273=) n.4401C>T c.2869C>T (p.Leu957=) c.2359C>T (p.Leu787=) c.*2815C>T (n.*2815C>T) c.4213C>T (p.Leu1405=) c.4195C>T (p.Leu1399=) | |
| 22 | g.50722050T>A | CA515264289 | SHANK3 | c.3818T>A (p.Leu1273Gln) n.4402T>A c.2870T>A (p.Leu957Gln) c.2360T>A (p.Leu787Gln) c.*2816T>A (n.*2816T>A) c.4214T>A (p.Leu1405Gln) c.4196T>A (p.Leu1399Gln) | |
| 22 | g.50722050T>C | CA10326227 | SHANK3 | c.3818T>C (p.Leu1273Pro) n.4402T>C c.2870T>C (p.Leu957Pro) c.2360T>C (p.Leu787Pro) c.*2816T>C (n.*2816T>C) c.4214T>C (p.Leu1405Pro) c.4196T>C (p.Leu1399Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722050T>G | CA515264288 | SHANK3 | c.3818T>G (p.Leu1273Arg) n.4402T>G c.2870T>G (p.Leu957Arg) c.2360T>G (p.Leu787Arg) c.*2816T>G (n.*2816T>G) c.4214T>G (p.Leu1405Arg) c.4196T>G (p.Leu1399Arg) | |
| 22 | g.50722050T= | CA2411008597 | SHANK3 | c.3818T= (p.Leu1273=) n.4402T= c.2870T= (p.Leu957=) c.2360T= (p.Leu787=) c.*2816T= (n.*2816T=) c.4214T= (p.Leu1405=) c.4196T= (p.Leu1399=) | |
| 22 | g.50722051A>C | CA515264290 | SHANK3 | c.3819A>C (p.Leu1273=) n.4403A>C c.2871A>C (p.Leu957=) c.2361A>C (p.Leu787=) c.*2817A>C (n.*2817A>C) c.4215A>C (p.Leu1405=) c.4197A>C (p.Leu1399=) | |
| 22 | g.50722051A>G | CA515264291 | SHANK3 | c.3819A>G (p.Leu1273=) n.4403A>G c.2871A>G (p.Leu957=) c.2361A>G (p.Leu787=) c.*2817A>G (n.*2817A>G) c.4215A>G (p.Leu1405=) c.4197A>G (p.Leu1399=) | |
| 22 | g.50722051A>T | CA515264292 | SHANK3 | c.3819A>T (p.Leu1273=) n.4403A>T c.2871A>T (p.Leu957=) c.2361A>T (p.Leu787=) c.*2817A>T (n.*2817A>T) c.4215A>T (p.Leu1405=) c.4197A>T (p.Leu1399=) | |
| 22 | g.50722052C>A | CA515264293 | SHANK3 | c.3820C>A (p.Leu1274Ile) n.4404C>A c.2872C>A (p.Leu958Ile) c.2362C>A (p.Leu788Ile) c.*2818C>A (n.*2818C>A) c.4216C>A (p.Leu1406Ile) c.4198C>A (p.Leu1400Ile) | |
| 22 | g.50722052C= | CA2411008598 | SHANK3 | c.3820C= (p.Leu1274=) n.4404C= c.2872C= (p.Leu958=) c.2362C= (p.Leu788=) c.*2818C= (n.*2818C=) c.4216C= (p.Leu1406=) c.4198C= (p.Leu1400=) | |
| 22 | g.50722052C>G | CA515264294 | SHANK3 | c.3820C>G (p.Leu1274Val) n.4404C>G c.2872C>G (p.Leu958Val) c.2362C>G (p.Leu788Val) c.*2818C>G (n.*2818C>G) c.4216C>G (p.Leu1406Val) c.4198C>G (p.Leu1400Val) | |
| 22 | g.50722052C>T | CA515264295 | SHANK3 | c.3820C>T (p.Leu1274Phe) n.4404C>T c.2872C>T (p.Leu958Phe) c.2362C>T (p.Leu788Phe) c.*2818C>T (n.*2818C>T) c.4216C>T (p.Leu1406Phe) c.4198C>T (p.Leu1400Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722053T>A | CA515264296 | SHANK3 | c.3821T>A (p.Leu1274His) n.4405T>A c.2873T>A (p.Leu958His) c.2363T>A (p.Leu788His) c.*2819T>A (n.*2819T>A) c.4217T>A (p.Leu1406His) c.4199T>A (p.Leu1400His) | |
| 22 | g.50722053T>C | CA515264298 | SHANK3 | c.3821T>C (p.Leu1274Pro) n.4405T>C c.2873T>C (p.Leu958Pro) c.2363T>C (p.Leu788Pro) c.*2819T>C (n.*2819T>C) c.4217T>C (p.Leu1406Pro) c.4199T>C (p.Leu1400Pro) | |
| 22 | g.50722053T>G | CA515264297 | SHANK3 | c.3821T>G (p.Leu1274Arg) n.4405T>G c.2873T>G (p.Leu958Arg) c.2363T>G (p.Leu788Arg) c.*2819T>G (n.*2819T>G) c.4217T>G (p.Leu1406Arg) c.4199T>G (p.Leu1400Arg) | |
| 22 | g.50722054C>A | CA515264299 | SHANK3 | c.3822C>A (p.Leu1274=) n.4406C>A c.2874C>A (p.Leu958=) c.2364C>A (p.Leu788=) c.*2820C>A (n.*2820C>A) c.4218C>A (p.Leu1406=) c.4200C>A (p.Leu1400=) | |
| 22 | g.50722054C= | CA2411008599 | SHANK3 | c.3822C= (p.Leu1274=) n.4406C= c.2874C= (p.Leu958=) c.2364C= (p.Leu788=) c.*2820C= (n.*2820C=) c.4218C= (p.Leu1406=) c.4200C= (p.Leu1400=) | |
| 22 | g.50722054C>G | CA10326229 | SHANK3 | c.3822C>G (p.Leu1274=) n.4406C>G c.2874C>G (p.Leu958=) c.2364C>G (p.Leu788=) c.*2820C>G (n.*2820C>G) c.4218C>G (p.Leu1406=) c.4200C>G (p.Leu1400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722054C>T | CA10326228 | SHANK3 | c.3822C>T (p.Leu1274=) n.4406C>T c.2874C>T (p.Leu958=) c.2364C>T (p.Leu788=) c.*2820C>T (n.*2820C>T) c.4218C>T (p.Leu1406=) c.4200C>T (p.Leu1400=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722055G>A | CA515264300 | SHANK3 | c.3823G>A (p.Glu1275Lys) n.4407G>A c.2875G>A (p.Glu959Lys) c.2365G>A (p.Glu789Lys) c.*2821G>A (n.*2821G>A) c.4219G>A (p.Glu1407Lys) c.4201G>A (p.Glu1401Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722055G>C | CA515264301 | SHANK3 | c.3823G>C (p.Glu1275Gln) n.4407G>C c.2875G>C (p.Glu959Gln) c.2365G>C (p.Glu789Gln) c.*2821G>C (n.*2821G>C) c.4219G>C (p.Glu1407Gln) c.4201G>C (p.Glu1401Gln) | |
| 22 | g.50722055G= | CA2411008600 | SHANK3 | c.3823G= (p.Glu1275=) n.4407G= c.2875G= (p.Glu959=) c.2365G= (p.Glu789=) c.*2821G= (n.*2821G=) c.4219G= (p.Glu1407=) c.4201G= (p.Glu1401=) | |
| 22 | g.50722055G>T | CA515264302 | SHANK3 | c.3823G>T (p.Glu1275Ter) n.4407G>T c.2875G>T (p.Glu959Ter) c.2365G>T (p.Glu789Ter) c.*2821G>T (n.*2821G>T) c.4219G>T (p.Glu1407Ter) c.4201G>T (p.Glu1401Ter) | |
| 22 | g.50722056A>C | CA515264303 | SHANK3 | c.3824A>C (p.Glu1275Ala) n.4408A>C c.2876A>C (p.Glu959Ala) c.2366A>C (p.Glu789Ala) c.*2822A>C (n.*2822A>C) c.4220A>C (p.Glu1407Ala) c.4202A>C (p.Glu1401Ala) | |
| 22 | g.50722056A>G | CA515264304 | SHANK3 | c.3824A>G (p.Glu1275Gly) n.4408A>G c.2876A>G (p.Glu959Gly) c.2366A>G (p.Glu789Gly) c.*2822A>G (n.*2822A>G) c.4220A>G (p.Glu1407Gly) c.4202A>G (p.Glu1401Gly) | |
| 22 | g.50722056A>T | CA515264305 | SHANK3 | c.3824A>T (p.Glu1275Val) n.4408A>T c.2876A>T (p.Glu959Val) c.2366A>T (p.Glu789Val) c.*2822A>T (n.*2822A>T) c.4220A>T (p.Glu1407Val) c.4202A>T (p.Glu1401Val) | |
| 22 | g.50722057G>A | CA515264306 | SHANK3 | c.3825G>A (p.Glu1275=) n.4409G>A c.2877G>A (p.Glu959=) c.2367G>A (p.Glu789=) c.*2823G>A (n.*2823G>A) c.4221G>A (p.Glu1407=) c.4203G>A (p.Glu1401=) | gnomAD v4 |
| 22 | g.50722057G>C | CA515264307 | SHANK3 | c.3825G>C (p.Glu1275Asp) n.4409G>C c.2877G>C (p.Glu959Asp) c.2367G>C (p.Glu789Asp) c.*2823G>C (n.*2823G>C) c.4221G>C (p.Glu1407Asp) c.4203G>C (p.Glu1401Asp) | |
| 22 | g.50722057G>T | CA515264308 | SHANK3 | c.3825G>T (p.Glu1275Asp) n.4409G>T c.2877G>T (p.Glu959Asp) c.2367G>T (p.Glu789Asp) c.*2823G>T (n.*2823G>T) c.4221G>T (p.Glu1407Asp) c.4203G>T (p.Glu1401Asp) | |
| 22 | g.50722058A>C | CA515264309 | SHANK3 | c.3826A>C (p.Lys1276Gln) n.4410A>C c.2878A>C (p.Lys960Gln) c.2368A>C (p.Lys790Gln) c.*2824A>C (n.*2824A>C) c.4222A>C (p.Lys1408Gln) c.4204A>C (p.Lys1402Gln) | |
| 22 | g.50722058A>G | CA515264311 | SHANK3 | c.3826A>G (p.Lys1276Glu) n.4410A>G c.2878A>G (p.Lys960Glu) c.2368A>G (p.Lys790Glu) c.*2824A>G (n.*2824A>G) c.4222A>G (p.Lys1408Glu) c.4204A>G (p.Lys1402Glu) | |
| 22 | g.50722058A>T | CA515264310 | SHANK3 | c.3826A>T (p.Lys1276Ter) n.4410A>T c.2878A>T (p.Lys960Ter) c.2368A>T (p.Lys790Ter) c.*2824A>T (n.*2824A>T) c.4222A>T (p.Lys1408Ter) c.4204A>T (p.Lys1402Ter) | |
| 22 | g.50722059A>C | CA515264312 | SHANK3 | c.3827A>C (p.Lys1276Thr) n.4411A>C c.2879A>C (p.Lys960Thr) c.2369A>C (p.Lys790Thr) c.*2825A>C (n.*2825A>C) c.4223A>C (p.Lys1408Thr) c.4205A>C (p.Lys1402Thr) | |
| 22 | g.50722059A>G | CA515264313 | SHANK3 | c.3827A>G (p.Lys1276Arg) n.4411A>G c.2879A>G (p.Lys960Arg) c.2369A>G (p.Lys790Arg) c.*2825A>G (n.*2825A>G) c.4223A>G (p.Lys1408Arg) c.4205A>G (p.Lys1402Arg) | |
| 22 | g.50722059A>T | CA515264314 | SHANK3 | c.3827A>T (p.Lys1276Met) n.4411A>T c.2879A>T (p.Lys960Met) c.2369A>T (p.Lys790Met) c.*2825A>T (n.*2825A>T) c.4223A>T (p.Lys1408Met) c.4205A>T (p.Lys1402Met) | |
| 22 | g.50722060G>A | CA515264315 | SHANK3 | c.3828G>A (p.Lys1276=) n.4412G>A c.2880G>A (p.Lys960=) c.2370G>A (p.Lys790=) c.*2826G>A (n.*2826G>A) c.4224G>A (p.Lys1408=) c.4206G>A (p.Lys1402=) | |
| 22 | g.50722060G>C | CA515264316 | SHANK3 | c.3828G>C (p.Lys1276Asn) n.4412G>C c.2880G>C (p.Lys960Asn) c.2370G>C (p.Lys790Asn) c.*2826G>C (n.*2826G>C) c.4224G>C (p.Lys1408Asn) c.4206G>C (p.Lys1402Asn) | |
| 22 | g.50722060G>T | CA515264317 | SHANK3 | c.3828G>T (p.Lys1276Asn) n.4412G>T c.2880G>T (p.Lys960Asn) c.2370G>T (p.Lys790Asn) c.*2826G>T (n.*2826G>T) c.4224G>T (p.Lys1408Asn) c.4206G>T (p.Lys1402Asn) | |
| 22 | g.50722060_50722061delinsGC | CA2411008601 | SHANK3 | c.3828_3829delinsGC (p.Lys1276=) n.4412_4413delinsGC c.2880_2881delinsGC (p.Lys960=) c.2370_2371delinsGC (p.Lys790=) c.*2826_*2827delinsGC (n.*2826_*2827delinsGC) c.4224_4225delinsGC (p.Lys1408=) c.4206_4207delinsGC (p.Lys1402=) | |
| 22 | g.50722061C>A | CA515264318 | SHANK3 | c.3829C>A (p.Pro1277Thr) n.4413C>A c.2881C>A (p.Pro961Thr) c.2371C>A (p.Pro791Thr) c.*2827C>A (n.*2827C>A) c.4225C>A (p.Pro1409Thr) c.4207C>A (p.Pro1403Thr) | |
| 22 | g.50722061C>G | CA515264319 | SHANK3 | c.3829C>G (p.Pro1277Ala) n.4413C>G c.2881C>G (p.Pro961Ala) c.2371C>G (p.Pro791Ala) c.*2827C>G (n.*2827C>G) c.4225C>G (p.Pro1409Ala) c.4207C>G (p.Pro1403Ala) | |
| 22 | g.50722061C>T | CA515264320 | SHANK3 | c.3829C>T (p.Pro1277Ser) n.4413C>T c.2881C>T (p.Pro961Ser) c.2371C>T (p.Pro791Ser) c.*2827C>T (n.*2827C>T) c.4225C>T (p.Pro1409Ser) c.4207C>T (p.Pro1403Ser) | |
| 22 | g.50722062del | CA645369800 | SHANK3 | c.3830del (p.Pro1277HisfsTer18) n.4414del c.2882del (p.Pro961HisfsTer18) c.2372del (p.Pro791HisfsTer18) c.*2828del (n.*2828del) c.4226del (p.Pro1409HisfsTer18) c.4208del (p.Pro1403HisfsTer18) | ClinVar dbSNP |
| 22 | g.50722062C>A | CA515264321 | SHANK3 | c.3830C>A (p.Pro1277Gln) n.4414C>A c.2882C>A (p.Pro961Gln) c.2372C>A (p.Pro791Gln) c.*2828C>A (n.*2828C>A) c.4226C>A (p.Pro1409Gln) c.4208C>A (p.Pro1403Gln) | |
| 22 | g.50722062C>G | CA515264322 | SHANK3 | c.3830C>G (p.Pro1277Arg) n.4414C>G c.2882C>G (p.Pro961Arg) c.2372C>G (p.Pro791Arg) c.*2828C>G (n.*2828C>G) c.4226C>G (p.Pro1409Arg) c.4208C>G (p.Pro1403Arg) | |
| 22 | g.50722062C>T | CA515264323 | SHANK3 | c.3830C>T (p.Pro1277Leu) n.4414C>T c.2882C>T (p.Pro961Leu) c.2372C>T (p.Pro791Leu) c.*2828C>T (n.*2828C>T) c.4226C>T (p.Pro1409Leu) c.4208C>T (p.Pro1403Leu) | |
| 22 | g.50722063A>C | CA515264326 | SHANK3 | c.3831A>C (p.Pro1277=) n.4415A>C c.2883A>C (p.Pro961=) c.2373A>C (p.Pro791=) c.*2829A>C (n.*2829A>C) c.4227A>C (p.Pro1409=) c.4209A>C (p.Pro1403=) | |
| 22 | g.50722063A>G | CA515264325 | SHANK3 | c.3831A>G (p.Pro1277=) n.4415A>G c.2883A>G (p.Pro961=) c.2373A>G (p.Pro791=) c.*2829A>G (n.*2829A>G) c.4227A>G (p.Pro1409=) c.4209A>G (p.Pro1403=) | |
| 22 | g.50722063A>T | CA515264324 | SHANK3 | c.3831A>T (p.Pro1277=) n.4415A>T c.2883A>T (p.Pro961=) c.2373A>T (p.Pro791=) c.*2829A>T (n.*2829A>T) c.4227A>T (p.Pro1409=) c.4209A>T (p.Pro1403=) | |
| 22 | g.50722064C>A | CA515264327 | SHANK3 | c.3832C>A (p.Pro1278Thr) n.4416C>A c.2884C>A (p.Pro962Thr) c.2374C>A (p.Pro792Thr) c.*2830C>A (n.*2830C>A) c.4228C>A (p.Pro1410Thr) c.4210C>A (p.Pro1404Thr) | |
| 22 | g.50722064C>G | CA515264328 | SHANK3 | c.3832C>G (p.Pro1278Ala) n.4416C>G c.2884C>G (p.Pro962Ala) c.2374C>G (p.Pro792Ala) c.*2830C>G (n.*2830C>G) c.4228C>G (p.Pro1410Ala) c.4210C>G (p.Pro1404Ala) | |
| 22 | g.50722064C>T | CA515264329 | SHANK3 | c.3832C>T (p.Pro1278Ser) n.4416C>T c.2884C>T (p.Pro962Ser) c.2374C>T (p.Pro792Ser) c.*2830C>T (n.*2830C>T) c.4228C>T (p.Pro1410Ser) c.4210C>T (p.Pro1404Ser) | |
| 22 | g.50722065C>A | CA515264330 | SHANK3 | c.3833C>A (p.Pro1278Gln) n.4417C>A c.2885C>A (p.Pro962Gln) c.2375C>A (p.Pro792Gln) c.*2831C>A (n.*2831C>A) c.4229C>A (p.Pro1410Gln) c.4211C>A (p.Pro1404Gln) | |
| 22 | g.50722065C= | CA2411008602 | SHANK3 | c.3833C= (p.Pro1278=) n.4417C= c.2885C= (p.Pro962=) c.2375C= (p.Pro792=) c.*2831C= (n.*2831C=) c.4229C= (p.Pro1410=) c.4211C= (p.Pro1404=) | |
| 22 | g.50722065C>G | CA515264331 | SHANK3 | c.3833C>G (p.Pro1278Arg) n.4417C>G c.2885C>G (p.Pro962Arg) c.2375C>G (p.Pro792Arg) c.*2831C>G (n.*2831C>G) c.4229C>G (p.Pro1410Arg) c.4211C>G (p.Pro1404Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722065C>T | CA515264332 | SHANK3 | c.3833C>T (p.Pro1278Leu) n.4417C>T c.2885C>T (p.Pro962Leu) c.2375C>T (p.Pro792Leu) c.*2831C>T (n.*2831C>T) c.4229C>T (p.Pro1410Leu) c.4211C>T (p.Pro1404Leu) | |
| 22 | g.50722066A>C | CA515264333 | SHANK3 | c.3834A>C (p.Pro1278=) n.4418A>C c.2886A>C (p.Pro962=) c.2376A>C (p.Pro792=) c.*2832A>C (n.*2832A>C) c.4230A>C (p.Pro1410=) c.4212A>C (p.Pro1404=) | |
| 22 | g.50722066A>G | CA515264334 | SHANK3 | c.3834A>G (p.Pro1278=) n.4418A>G c.2886A>G (p.Pro962=) c.2376A>G (p.Pro792=) c.*2832A>G (n.*2832A>G) c.4230A>G (p.Pro1410=) c.4212A>G (p.Pro1404=) | |
| 22 | g.50722066A>T | CA515264335 | SHANK3 | c.3834A>T (p.Pro1278=) n.4418A>T c.2886A>T (p.Pro962=) c.2376A>T (p.Pro792=) c.*2832A>T (n.*2832A>T) c.4230A>T (p.Pro1410=) c.4212A>T (p.Pro1404=) | |
| 22 | g.50722067G>A | CA10326230 | SHANK3 | c.3835G>A (p.Val1279Met) n.4419G>A c.2887G>A (p.Val963Met) c.2377G>A (p.Val793Met) c.*2833G>A (n.*2833G>A) c.4231G>A (p.Val1411Met) c.4213G>A (p.Val1405Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722067G>C | CA515264336 | SHANK3 | c.3835G>C (p.Val1279Leu) n.4419G>C c.2887G>C (p.Val963Leu) c.2377G>C (p.Val793Leu) c.*2833G>C (n.*2833G>C) c.4231G>C (p.Val1411Leu) c.4213G>C (p.Val1405Leu) | |
| 22 | g.50722067G= | CA2411008603 | SHANK3 | c.3835G= (p.Val1279=) n.4419G= c.2887G= (p.Val963=) c.2377G= (p.Val793=) c.*2833G= (n.*2833G=) c.4231G= (p.Val1411=) c.4213G= (p.Val1405=) | |
| 22 | g.50722067G>T | CA515264337 | SHANK3 | c.3835G>T (p.Val1279Leu) n.4419G>T c.2887G>T (p.Val963Leu) c.2377G>T (p.Val793Leu) c.*2833G>T (n.*2833G>T) c.4231G>T (p.Val1411Leu) c.4213G>T (p.Val1405Leu) | |
| 22 | g.50722068T>A | CA515264340 | SHANK3 | c.3836T>A (p.Val1279Glu) n.4420T>A c.2888T>A (p.Val963Glu) c.2378T>A (p.Val793Glu) c.*2834T>A (n.*2834T>A) c.4232T>A (p.Val1411Glu) c.4214T>A (p.Val1405Glu) | |
| 22 | g.50722068T>C | CA515264339 | SHANK3 | c.3836T>C (p.Val1279Ala) n.4420T>C c.2888T>C (p.Val963Ala) c.2378T>C (p.Val793Ala) c.*2834T>C (n.*2834T>C) c.4232T>C (p.Val1411Ala) c.4214T>C (p.Val1405Ala) | |
| 22 | g.50722068T>G | CA515264338 | SHANK3 | c.3836T>G (p.Val1279Gly) n.4420T>G c.2888T>G (p.Val963Gly) c.2378T>G (p.Val793Gly) c.*2834T>G (n.*2834T>G) c.4232T>G (p.Val1411Gly) c.4214T>G (p.Val1405Gly) | |
| 22 | g.50722069G>A | CA515264341 | SHANK3 | c.3837G>A (p.Val1279=) n.4421G>A c.2889G>A (p.Val963=) c.2379G>A (p.Val793=) c.*2835G>A (n.*2835G>A) c.4233G>A (p.Val1411=) c.4215G>A (p.Val1405=) | |
| 22 | g.50722069G>C | CA515264343 | SHANK3 | c.3837G>C (p.Val1279=) n.4421G>C c.2889G>C (p.Val963=) c.2379G>C (p.Val793=) c.*2835G>C (n.*2835G>C) c.4233G>C (p.Val1411=) c.4215G>C (p.Val1405=) | |
| 22 | g.50722069G>T | CA515264342 | SHANK3 | c.3837G>T (p.Val1279=) n.4421G>T c.2889G>T (p.Val963=) c.2379G>T (p.Val793=) c.*2835G>T (n.*2835G>T) c.4233G>T (p.Val1411=) c.4215G>T (p.Val1405=) | |
| 22 | g.50722070C>A | CA515264344 | SHANK3 | c.3838C>A (p.Pro1280Thr) n.4422C>A c.2890C>A (p.Pro964Thr) c.2380C>A (p.Pro794Thr) c.*2836C>A (n.*2836C>A) c.4234C>A (p.Pro1412Thr) c.4216C>A (p.Pro1406Thr) | |
| 22 | g.50722070C>G | CA515264345 | SHANK3 | c.3838C>G (p.Pro1280Ala) n.4422C>G c.2890C>G (p.Pro964Ala) c.2380C>G (p.Pro794Ala) c.*2836C>G (n.*2836C>G) c.4234C>G (p.Pro1412Ala) c.4216C>G (p.Pro1406Ala) | |
| 22 | g.50722070C>T | CA515264346 | SHANK3 | c.3838C>T (p.Pro1280Ser) n.4422C>T c.2890C>T (p.Pro964Ser) c.2380C>T (p.Pro794Ser) c.*2836C>T (n.*2836C>T) c.4234C>T (p.Pro1412Ser) c.4216C>T (p.Pro1406Ser) | |
| 22 | g.50722071C>A | CA515264347 | SHANK3 | c.3839C>A (p.Pro1280His) n.4423C>A c.2891C>A (p.Pro964His) c.2381C>A (p.Pro794His) c.*2837C>A (n.*2837C>A) c.4235C>A (p.Pro1412His) c.4217C>A (p.Pro1406His) | |
| 22 | g.50722071C>G | CA515264348 | SHANK3 | c.3839C>G (p.Pro1280Arg) n.4423C>G c.2891C>G (p.Pro964Arg) c.2381C>G (p.Pro794Arg) c.*2837C>G (n.*2837C>G) c.4235C>G (p.Pro1412Arg) c.4217C>G (p.Pro1406Arg) | |
| 22 | g.50722071C>T | CA515264349 | SHANK3 | c.3839C>T (p.Pro1280Leu) n.4423C>T c.2891C>T (p.Pro964Leu) c.2381C>T (p.Pro794Leu) c.*2837C>T (n.*2837C>T) c.4235C>T (p.Pro1412Leu) c.4217C>T (p.Pro1406Leu) | |
| 22 | g.50722072T>A | CA515264350 | SHANK3 | c.3840T>A (p.Pro1280=) n.4424T>A c.2892T>A (p.Pro964=) c.2382T>A (p.Pro794=) c.*2838T>A (n.*2838T>A) c.4236T>A (p.Pro1412=) c.4218T>A (p.Pro1406=) | |
| 22 | g.50722072T>C | CA515264351 | SHANK3 | c.3840T>C (p.Pro1280=) n.4424T>C c.2892T>C (p.Pro964=) c.2382T>C (p.Pro794=) c.*2838T>C (n.*2838T>C) c.4236T>C (p.Pro1412=) c.4218T>C (p.Pro1406=) | |
| 22 | g.50722072T>G | CA515264352 | SHANK3 | c.3840T>G (p.Pro1280=) n.4424T>G c.2892T>G (p.Pro964=) c.2382T>G (p.Pro794=) c.*2838T>G (n.*2838T>G) c.4236T>G (p.Pro1412=) c.4218T>G (p.Pro1406=) | |
| 22 | g.50722072_50722078delinsTCCCAAG | CA2411008604 | SHANK3 | c.3840_3846delinsTCCCAAG (p.Pro1280=) n.4424_4430delinsTCCCAAG c.2892_2898delinsTCCCAAG (p.Pro964=) c.2382_2388delinsTCCCAAG (p.Pro794=) c.*2838_*2844delinsTCCCAAG (n.*2838_*2844delinsTCCCAAG) c.4236_4242delinsTCCCAAG (p.Pro1412=) c.4218_4224delinsTCCCAAG (p.Pro1406=) | |
| 22 | g.50722073C>A | CA515264353 | SHANK3 | c.3841C>A (p.Pro1281Thr) n.4425C>A c.2893C>A (p.Pro965Thr) c.2383C>A (p.Pro795Thr) c.*2839C>A (n.*2839C>A) c.4237C>A (p.Pro1413Thr) c.4219C>A (p.Pro1407Thr) | |
| 22 | g.50722073C>G | CA515264354 | SHANK3 | c.3841C>G (p.Pro1281Ala) n.4425C>G c.2893C>G (p.Pro965Ala) c.2383C>G (p.Pro795Ala) c.*2839C>G (n.*2839C>G) c.4237C>G (p.Pro1413Ala) c.4219C>G (p.Pro1407Ala) | |
| 22 | g.50722073C>T | CA515264355 | SHANK3 | c.3841C>T (p.Pro1281Ser) n.4425C>T c.2893C>T (p.Pro965Ser) c.2383C>T (p.Pro795Ser) c.*2839C>T (n.*2839C>T) c.4237C>T (p.Pro1413Ser) c.4219C>T (p.Pro1407Ser) | |
| 22 | g.50722080_50722085del | CA754094829 | SHANK3 | c.3848_3853del (p.Pro1283_Lys1284del) n.4432_4437del c.2900_2905del (p.Pro967_Lys968del) c.2390_2395del (p.Pro797_Lys798del) c.*2846_*2851del (n.*2846_*2851del) c.4244_4249del (p.Pro1415_Lys1416del) c.4226_4231del (p.Pro1409_Lys1410del) | dbSNP |
| 22 | g.50722074C>A | CA515264358 | SHANK3 | c.3842C>A (p.Pro1281His) n.4426C>A c.2894C>A (p.Pro965His) c.2384C>A (p.Pro795His) c.*2840C>A (n.*2840C>A) c.4238C>A (p.Pro1413His) c.4220C>A (p.Pro1407His) | |
| 22 | g.50722074C= | CA2411008605 | SHANK3 | c.3842C= (p.Pro1281=) n.4426C= c.2894C= (p.Pro965=) c.2384C= (p.Pro795=) c.*2840C= (n.*2840C=) c.4238C= (p.Pro1413=) c.4220C= (p.Pro1407=) | |
| 22 | g.50722074C>G | CA515264356 | SHANK3 | c.3842C>G (p.Pro1281Arg) n.4426C>G c.2894C>G (p.Pro965Arg) c.2384C>G (p.Pro795Arg) c.*2840C>G (n.*2840C>G) c.4238C>G (p.Pro1413Arg) c.4220C>G (p.Pro1407Arg) | |
| 22 | g.50722074C>T | CA515264357 | SHANK3 | c.3842C>T (p.Pro1281Leu) n.4426C>T c.2894C>T (p.Pro965Leu) c.2384C>T (p.Pro795Leu) c.*2840C>T (n.*2840C>T) c.4238C>T (p.Pro1413Leu) c.4220C>T (p.Pro1407Leu) | dbSNP gnomAD v2 |
| 22 | g.50722075C>A | CA515264359 | SHANK3 | c.3843C>A (p.Pro1281=) n.4427C>A c.2895C>A (p.Pro965=) c.2385C>A (p.Pro795=) c.*2841C>A (n.*2841C>A) c.4239C>A (p.Pro1413=) c.4221C>A (p.Pro1407=) | |
| 22 | g.50722075C>G | CA515264360 | SHANK3 | c.3843C>G (p.Pro1281=) n.4427C>G c.2895C>G (p.Pro965=) c.2385C>G (p.Pro795=) c.*2841C>G (n.*2841C>G) c.4239C>G (p.Pro1413=) c.4221C>G (p.Pro1407=) | |
| 22 | g.50722075C>T | CA515264361 | SHANK3 | c.3843C>T (p.Pro1281=) n.4427C>T c.2895C>T (p.Pro965=) c.2385C>T (p.Pro795=) c.*2841C>T (n.*2841C>T) c.4239C>T (p.Pro1413=) c.4221C>T (p.Pro1407=) | |
| 22 | g.50722076A>C | CA515264362 | SHANK3 | c.3844A>C (p.Lys1282Gln) n.4428A>C c.2896A>C (p.Lys966Gln) c.2386A>C (p.Lys796Gln) c.*2842A>C (n.*2842A>C) c.4240A>C (p.Lys1414Gln) c.4222A>C (p.Lys1408Gln) | |
| 22 | g.50722076A>G | CA515264363 | SHANK3 | c.3844A>G (p.Lys1282Glu) n.4428A>G c.2896A>G (p.Lys966Glu) c.2386A>G (p.Lys796Glu) c.*2842A>G (n.*2842A>G) c.4240A>G (p.Lys1414Glu) c.4222A>G (p.Lys1408Glu) | |
| 22 | g.50722076A>T | CA515264364 | SHANK3 | c.3844A>T (p.Lys1282Ter) n.4428A>T c.2896A>T (p.Lys966Ter) c.2386A>T (p.Lys796Ter) c.*2842A>T (n.*2842A>T) c.4240A>T (p.Lys1414Ter) c.4222A>T (p.Lys1408Ter) | |
| 22 | g.50722077A>C | CA515264365 | SHANK3 | c.3845A>C (p.Lys1282Thr) n.4429A>C c.2897A>C (p.Lys966Thr) c.2387A>C (p.Lys796Thr) c.*2843A>C (n.*2843A>C) c.4241A>C (p.Lys1414Thr) c.4223A>C (p.Lys1408Thr) | |
| 22 | g.50722077A>G | CA515264366 | SHANK3 | c.3845A>G (p.Lys1282Arg) n.4429A>G c.2897A>G (p.Lys966Arg) c.2387A>G (p.Lys796Arg) c.*2843A>G (n.*2843A>G) c.4241A>G (p.Lys1414Arg) c.4223A>G (p.Lys1408Arg) | |
| 22 | g.50722077A>T | CA515264367 | SHANK3 | c.3845A>T (p.Lys1282Met) n.4429A>T c.2897A>T (p.Lys966Met) c.2387A>T (p.Lys796Met) c.*2843A>T (n.*2843A>T) c.4241A>T (p.Lys1414Met) c.4223A>T (p.Lys1408Met) | |
| 22 | g.50722078G>A | CA325579993 | SHANK3 | c.3846G>A (p.Lys1282=) n.4430G>A c.2898G>A (p.Lys966=) c.2388G>A (p.Lys796=) c.*2844G>A (n.*2844G>A) c.4242G>A (p.Lys1414=) c.4224G>A (p.Lys1408=) | dbSNP |
| 22 | g.50722078G>C | CA515264368 | SHANK3 | c.3846G>C (p.Lys1282Asn) n.4430G>C c.2898G>C (p.Lys966Asn) c.2388G>C (p.Lys796Asn) c.*2844G>C (n.*2844G>C) c.4242G>C (p.Lys1414Asn) c.4224G>C (p.Lys1408Asn) | |
| 22 | g.50722078G= | CA2411008606 | SHANK3 | c.3846G= (p.Lys1282=) n.4430G= c.2898G= (p.Lys966=) c.2388G= (p.Lys796=) c.*2844G= (n.*2844G=) c.4242G= (p.Lys1414=) c.4224G= (p.Lys1408=) | |
| 22 | g.50722078G>T | CA515264369 | SHANK3 | c.3846G>T (p.Lys1282Asn) n.4430G>T c.2898G>T (p.Lys966Asn) c.2388G>T (p.Lys796Asn) c.*2844G>T (n.*2844G>T) c.4242G>T (p.Lys1414Asn) c.4224G>T (p.Lys1408Asn) | |
| 22 | g.50722079C>A | CA515264372 | SHANK3 | c.3847C>A (p.Pro1283Thr) n.4431C>A c.2899C>A (p.Pro967Thr) c.2389C>A (p.Pro797Thr) c.*2845C>A (n.*2845C>A) c.4243C>A (p.Pro1415Thr) c.4225C>A (p.Pro1409Thr) | |
| 22 | g.50722079C>G | CA515264371 | SHANK3 | c.3847C>G (p.Pro1283Ala) n.4431C>G c.2899C>G (p.Pro967Ala) c.2389C>G (p.Pro797Ala) c.*2845C>G (n.*2845C>G) c.4243C>G (p.Pro1415Ala) c.4225C>G (p.Pro1409Ala) | |
| 22 | g.50722079C>T | CA515264370 | SHANK3 | c.3847C>T (p.Pro1283Ser) n.4431C>T c.2899C>T (p.Pro967Ser) c.2389C>T (p.Pro797Ser) c.*2845C>T (n.*2845C>T) c.4243C>T (p.Pro1415Ser) c.4225C>T (p.Pro1409Ser) | |
| 22 | g.50722080C>A | CA515264375 | SHANK3 | c.3848C>A (p.Pro1283His) n.4432C>A c.2900C>A (p.Pro967His) c.2390C>A (p.Pro797His) c.*2846C>A (n.*2846C>A) c.4244C>A (p.Pro1415His) c.4226C>A (p.Pro1409His) | |
| 22 | g.50722080C>G | CA515264373 | SHANK3 | c.3848C>G (p.Pro1283Arg) n.4432C>G c.2900C>G (p.Pro967Arg) c.2390C>G (p.Pro797Arg) c.*2846C>G (n.*2846C>G) c.4244C>G (p.Pro1415Arg) c.4226C>G (p.Pro1409Arg) | |
| 22 | g.50722080C>T | CA515264374 | SHANK3 | c.3848C>T (p.Pro1283Leu) n.4432C>T c.2900C>T (p.Pro967Leu) c.2390C>T (p.Pro797Leu) c.*2846C>T (n.*2846C>T) c.4244C>T (p.Pro1415Leu) c.4226C>T (p.Pro1409Leu) | gnomAD v4 |
| 22 | g.50722081C>A | CA10326231 | SHANK3 | c.3849C>A (p.Pro1283=) n.4433C>A c.2901C>A (p.Pro967=) c.2391C>A (p.Pro797=) c.*2847C>A (n.*2847C>A) c.4245C>A (p.Pro1415=) c.4227C>A (p.Pro1409=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722081C= | CA2411008607 | SHANK3 | c.3849C= (p.Pro1283=) n.4433C= c.2901C= (p.Pro967=) c.2391C= (p.Pro797=) c.*2847C= (n.*2847C=) c.4245C= (p.Pro1415=) c.4227C= (p.Pro1409=) | |
| 22 | g.50722081C>G | CA515264376 | SHANK3 | c.3849C>G (p.Pro1283=) n.4433C>G c.2901C>G (p.Pro967=) c.2391C>G (p.Pro797=) c.*2847C>G (n.*2847C>G) c.4245C>G (p.Pro1415=) c.4227C>G (p.Pro1409=) | |
| 22 | g.50722081C>T | CA515264377 | SHANK3 | c.3849C>T (p.Pro1283=) n.4433C>T c.2901C>T (p.Pro967=) c.2391C>T (p.Pro797=) c.*2847C>T (n.*2847C>T) c.4245C>T (p.Pro1415=) c.4227C>T (p.Pro1409=) | |
| 22 | g.50722082A= | CA2411008608 | SHANK3 | c.3850A= (p.Lys1284=) n.4434A= c.2902A= (p.Lys968=) c.2392A= (p.Lys798=) c.*2848A= (n.*2848A=) c.4246A= (p.Lys1416=) c.4228A= (p.Lys1410=) | |
| 22 | g.50722082A>C | CA515264380 | SHANK3 | c.3850A>C (p.Lys1284Gln) n.4434A>C c.2902A>C (p.Lys968Gln) c.2392A>C (p.Lys798Gln) c.*2848A>C (n.*2848A>C) c.4246A>C (p.Lys1416Gln) c.4228A>C (p.Lys1410Gln) | |
| 22 | g.50722082A>G | CA515264379 | SHANK3 | c.3850A>G (p.Lys1284Glu) n.4434A>G c.2902A>G (p.Lys968Glu) c.2392A>G (p.Lys798Glu) c.*2848A>G (n.*2848A>G) c.4246A>G (p.Lys1416Glu) c.4228A>G (p.Lys1410Glu) | dbSNP |
| 22 | g.50722082A>T | CA515264378 | SHANK3 | c.3850A>T (p.Lys1284Ter) n.4434A>T c.2902A>T (p.Lys968Ter) c.2392A>T (p.Lys798Ter) c.*2848A>T (n.*2848A>T) c.4246A>T (p.Lys1416Ter) c.4228A>T (p.Lys1410Ter) | |
| 22 | g.50722083A>C | CA515264381 | SHANK3 | c.3851A>C (p.Lys1284Thr) n.4435A>C c.2903A>C (p.Lys968Thr) c.2393A>C (p.Lys798Thr) c.*2849A>C (n.*2849A>C) c.4247A>C (p.Lys1416Thr) c.4229A>C (p.Lys1410Thr) | |
| 22 | g.50722083A>G | CA515264382 | SHANK3 | c.3851A>G (p.Lys1284Arg) n.4435A>G c.2903A>G (p.Lys968Arg) c.2393A>G (p.Lys798Arg) c.*2849A>G (n.*2849A>G) c.4247A>G (p.Lys1416Arg) c.4229A>G (p.Lys1410Arg) | |
| 22 | g.50722083A>T | CA515264383 | SHANK3 | c.3851A>T (p.Lys1284Met) n.4435A>T c.2903A>T (p.Lys968Met) c.2393A>T (p.Lys798Met) c.*2849A>T (n.*2849A>T) c.4247A>T (p.Lys1416Met) c.4229A>T (p.Lys1410Met) | |
| 22 | g.50722084G>A | CA515264384 | SHANK3 | c.3852G>A (p.Lys1284=) n.4436G>A c.2904G>A (p.Lys968=) c.2394G>A (p.Lys798=) c.*2850G>A (n.*2850G>A) c.4248G>A (p.Lys1416=) c.4230G>A (p.Lys1410=) | |
| 22 | g.50722084G>C | CA515264385 | SHANK3 | c.3852G>C (p.Lys1284Asn) n.4436G>C c.2904G>C (p.Lys968Asn) c.2394G>C (p.Lys798Asn) c.*2850G>C (n.*2850G>C) c.4248G>C (p.Lys1416Asn) c.4230G>C (p.Lys1410Asn) | |
| 22 | g.50722084G>T | CA515264386 | SHANK3 | c.3852G>T (p.Lys1284Asn) n.4436G>T c.2904G>T (p.Lys968Asn) c.2394G>T (p.Lys798Asn) c.*2850G>T (n.*2850G>T) c.4248G>T (p.Lys1416Asn) c.4230G>T (p.Lys1410Asn) | |
| 22 | g.50722085C>A | CA515264387 | SHANK3 | c.3853C>A (p.Leu1285Ile) n.4437C>A c.2905C>A (p.Leu969Ile) c.2395C>A (p.Leu799Ile) c.*2851C>A (n.*2851C>A) c.4249C>A (p.Leu1417Ile) c.4231C>A (p.Leu1411Ile) | |
| 22 | g.50722085C= | CA2411008609 | SHANK3 | c.3853C= (p.Leu1285=) n.4437C= c.2905C= (p.Leu969=) c.2395C= (p.Leu799=) c.*2851C= (n.*2851C=) c.4249C= (p.Leu1417=) c.4231C= (p.Leu1411=) | |
| 22 | g.50722085C>G | CA515264389 | SHANK3 | c.3853C>G (p.Leu1285Val) n.4437C>G c.2905C>G (p.Leu969Val) c.2395C>G (p.Leu799Val) c.*2851C>G (n.*2851C>G) c.4249C>G (p.Leu1417Val) c.4231C>G (p.Leu1411Val) | gnomAD v4 |
| 22 | g.50722085C>T | CA515264388 | SHANK3 | c.3853C>T (p.Leu1285Phe) n.4437C>T c.2905C>T (p.Leu969Phe) c.2395C>T (p.Leu799Phe) c.*2851C>T (n.*2851C>T) c.4249C>T (p.Leu1417Phe) c.4231C>T (p.Leu1411Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722086T>A | CA515264390 | SHANK3 | c.3854T>A (p.Leu1285His) n.4438T>A c.2906T>A (p.Leu969His) c.2396T>A (p.Leu799His) c.*2852T>A (n.*2852T>A) c.4250T>A (p.Leu1417His) c.4232T>A (p.Leu1411His) | |
| 22 | g.50722086T>C | CA515264391 | SHANK3 | c.3854T>C (p.Leu1285Pro) n.4438T>C c.2906T>C (p.Leu969Pro) c.2396T>C (p.Leu799Pro) c.*2852T>C (n.*2852T>C) c.4250T>C (p.Leu1417Pro) c.4232T>C (p.Leu1411Pro) | |
| 22 | g.50722086T>G | CA515264392 | SHANK3 | c.3854T>G (p.Leu1285Arg) n.4438T>G c.2906T>G (p.Leu969Arg) c.2396T>G (p.Leu799Arg) c.*2852T>G (n.*2852T>G) c.4250T>G (p.Leu1417Arg) c.4232T>G (p.Leu1411Arg) | |
| 22 | g.50722087C>A | CA515264393 | SHANK3 | c.3855C>A (p.Leu1285=) n.4439C>A c.2907C>A (p.Leu969=) c.2397C>A (p.Leu799=) c.*2853C>A (n.*2853C>A) c.4251C>A (p.Leu1417=) c.4233C>A (p.Leu1411=) | |
| 22 | g.50722087C= | CA2411008610 | SHANK3 | c.3855C= (p.Leu1285=) n.4439C= c.2907C= (p.Leu969=) c.2397C= (p.Leu799=) c.*2853C= (n.*2853C=) c.4251C= (p.Leu1417=) c.4233C= (p.Leu1411=) | |
| 22 | g.50722087C>G | CA515264394 | SHANK3 | c.3855C>G (p.Leu1285=) n.4439C>G c.2907C>G (p.Leu969=) c.2397C>G (p.Leu799=) c.*2853C>G (n.*2853C>G) c.4251C>G (p.Leu1417=) c.4233C>G (p.Leu1411=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722087C>T | CA515264395 | SHANK3 | c.3855C>T (p.Leu1285=) n.4439C>T c.2907C>T (p.Leu969=) c.2397C>T (p.Leu799=) c.*2853C>T (n.*2853C>T) c.4251C>T (p.Leu1417=) c.4233C>T (p.Leu1411=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722088A>C | CA515264396 | SHANK3 | c.3856A>C (p.Lys1286Gln) n.4440A>C c.2908A>C (p.Lys970Gln) c.2398A>C (p.Lys800Gln) c.*2854A>C (n.*2854A>C) c.4252A>C (p.Lys1418Gln) c.4234A>C (p.Lys1412Gln) | gnomAD v4 |
| 22 | g.50722088A>G | CA515264397 | SHANK3 | c.3856A>G (p.Lys1286Glu) n.4440A>G c.2908A>G (p.Lys970Glu) c.2398A>G (p.Lys800Glu) c.*2854A>G (n.*2854A>G) c.4252A>G (p.Lys1418Glu) c.4234A>G (p.Lys1412Glu) | |
| 22 | g.50722088A>T | CA515264398 | SHANK3 | c.3856A>T (p.Lys1286Ter) n.4440A>T c.2908A>T (p.Lys970Ter) c.2398A>T (p.Lys800Ter) c.*2854A>T (n.*2854A>T) c.4252A>T (p.Lys1418Ter) c.4234A>T (p.Lys1412Ter) | |
| 22 | g.50722089A= | CA2411008611 | SHANK3 | c.3857A= (p.Lys1286=) n.4441A= c.2909A= (p.Lys970=) c.2399A= (p.Lys800=) c.*2855A= (n.*2855A=) c.4253A= (p.Lys1418=) c.4235A= (p.Lys1412=) | |
| 22 | g.50722089A>C | CA515264399 | SHANK3 | c.3857A>C (p.Lys1286Thr) n.4441A>C c.2909A>C (p.Lys970Thr) c.2399A>C (p.Lys800Thr) c.*2855A>C (n.*2855A>C) c.4253A>C (p.Lys1418Thr) c.4235A>C (p.Lys1412Thr) | |
| 22 | g.50722089A>G | CA10326232 | SHANK3 | c.3857A>G (p.Lys1286Arg) n.4441A>G c.2909A>G (p.Lys970Arg) c.2399A>G (p.Lys800Arg) c.*2855A>G (n.*2855A>G) c.4253A>G (p.Lys1418Arg) c.4235A>G (p.Lys1412Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722089A>T | CA515264400 | SHANK3 | c.3857A>T (p.Lys1286Met) n.4441A>T c.2909A>T (p.Lys970Met) c.2399A>T (p.Lys800Met) c.*2855A>T (n.*2855A>T) c.4253A>T (p.Lys1418Met) c.4235A>T (p.Lys1412Met) | |
| 22 | g.50722090G>A | CA325580000 | SHANK3 | c.3858G>A (p.Lys1286=) n.4442G>A c.2910G>A (p.Lys970=) c.2400G>A (p.Lys800=) c.*2856G>A (n.*2856G>A) c.4254G>A (p.Lys1418=) c.4236G>A (p.Lys1412=) | dbSNP |
| 22 | g.50722090G>C | CA515264402 | SHANK3 | c.3858G>C (p.Lys1286Asn) n.4442G>C c.2910G>C (p.Lys970Asn) c.2400G>C (p.Lys800Asn) c.*2856G>C (n.*2856G>C) c.4254G>C (p.Lys1418Asn) c.4236G>C (p.Lys1412Asn) | |
| 22 | g.50722090G= | CA2411008612 | SHANK3 | c.3858G= (p.Lys1286=) n.4442G= c.2910G= (p.Lys970=) c.2400G= (p.Lys800=) c.*2856G= (n.*2856G=) c.4254G= (p.Lys1418=) c.4236G= (p.Lys1412=) | |
| 22 | g.50722090G>T | CA515264401 | SHANK3 | c.3858G>T (p.Lys1286Asn) n.4442G>T c.2910G>T (p.Lys970Asn) c.2400G>T (p.Lys800Asn) c.*2856G>T (n.*2856G>T) c.4254G>T (p.Lys1418Asn) c.4236G>T (p.Lys1412Asn) | |
| 22 | g.50722091T>A | CA515264403 | SHANK3 | c.3859T>A (p.Ser1287Thr) n.4443T>A c.2911T>A (p.Ser971Thr) c.2401T>A (p.Ser801Thr) c.*2857T>A (n.*2857T>A) c.4255T>A (p.Ser1419Thr) c.4237T>A (p.Ser1413Thr) | |
| 22 | g.50722091T>C | CA515264404 | SHANK3 | c.3859T>C (p.Ser1287Pro) n.4443T>C c.2911T>C (p.Ser971Pro) c.2401T>C (p.Ser801Pro) c.*2857T>C (n.*2857T>C) c.4255T>C (p.Ser1419Pro) c.4237T>C (p.Ser1413Pro) | |
| 22 | g.50722091T>G | CA515264405 | SHANK3 | c.3859T>G (p.Ser1287Ala) n.4443T>G c.2911T>G (p.Ser971Ala) c.2401T>G (p.Ser801Ala) c.*2857T>G (n.*2857T>G) c.4255T>G (p.Ser1419Ala) c.4237T>G (p.Ser1413Ala) | |
| 22 | g.50722092C>A | CA515264407 | SHANK3 | c.3860C>A (p.Ser1287Tyr) n.4444C>A c.2912C>A (p.Ser971Tyr) c.2402C>A (p.Ser801Tyr) c.*2858C>A (n.*2858C>A) c.4256C>A (p.Ser1419Tyr) c.4238C>A (p.Ser1413Tyr) | |
| 22 | g.50722092C= | CA2411008613 | SHANK3 | c.3860C= (p.Ser1287=) n.4444C= c.2912C= (p.Ser971=) c.2402C= (p.Ser801=) c.*2858C= (n.*2858C=) c.4256C= (p.Ser1419=) c.4238C= (p.Ser1413=) | |
| 22 | g.50722092C>G | CA515264408 | SHANK3 | c.3860C>G (p.Ser1287Cys) n.4444C>G c.2912C>G (p.Ser971Cys) c.2402C>G (p.Ser801Cys) c.*2858C>G (n.*2858C>G) c.4256C>G (p.Ser1419Cys) c.4238C>G (p.Ser1413Cys) | |
| 22 | g.50722092C>T | CA515264409 | SHANK3 | c.3860C>T (p.Ser1287Phe) n.4444C>T c.2912C>T (p.Ser971Phe) c.2402C>T (p.Ser801Phe) c.*2858C>T (n.*2858C>T) c.4256C>T (p.Ser1419Phe) c.4238C>T (p.Ser1413Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722093C>A | CA515264412 | SHANK3 | c.3861C>A (p.Ser1287=) n.4445C>A c.2913C>A (p.Ser971=) c.2403C>A (p.Ser801=) c.*2859C>A (n.*2859C>A) c.4257C>A (p.Ser1419=) c.4239C>A (p.Ser1413=) | |
| 22 | g.50722093C= | CA2411008614 | SHANK3 | c.3861C= (p.Ser1287=) n.4445C= c.2913C= (p.Ser971=) c.2403C= (p.Ser801=) c.*2859C= (n.*2859C=) c.4257C= (p.Ser1419=) c.4239C= (p.Ser1413=) | |
| 22 | g.50722093C>G | CA515264411 | SHANK3 | c.3861C>G (p.Ser1287=) n.4445C>G c.2913C>G (p.Ser971=) c.2403C>G (p.Ser801=) c.*2859C>G (n.*2859C>G) c.4257C>G (p.Ser1419=) c.4239C>G (p.Ser1413=) | |
| 22 | g.50722093C>T | CA515264410 | SHANK3 | c.3861C>T (p.Ser1287=) n.4445C>T c.2913C>T (p.Ser971=) c.2403C>T (p.Ser801=) c.*2859C>T (n.*2859C>T) c.4257C>T (p.Ser1419=) c.4239C>T (p.Ser1413=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722094C>A | CA515264413 | SHANK3 | c.3862C>A (p.Pro1288Thr) n.4446C>A c.2914C>A (p.Pro972Thr) c.2404C>A (p.Pro802Thr) c.*2860C>A (n.*2860C>A) c.4258C>A (p.Pro1420Thr) c.4240C>A (p.Pro1414Thr) | |
| 22 | g.50722094C>G | CA515264414 | SHANK3 | c.3862C>G (p.Pro1288Ala) n.4446C>G c.2914C>G (p.Pro972Ala) c.2404C>G (p.Pro802Ala) c.*2860C>G (n.*2860C>G) c.4258C>G (p.Pro1420Ala) c.4240C>G (p.Pro1414Ala) | |
| 22 | g.50722094C>T | CA515264415 | SHANK3 | c.3862C>T (p.Pro1288Ser) n.4446C>T c.2914C>T (p.Pro972Ser) c.2404C>T (p.Pro802Ser) c.*2860C>T (n.*2860C>T) c.4258C>T (p.Pro1420Ser) c.4240C>T (p.Pro1414Ser) | |
| 22 | g.50722095C>A | CA515264416 | SHANK3 | c.3863C>A (p.Pro1288Gln) n.4447C>A c.2915C>A (p.Pro972Gln) c.2405C>A (p.Pro802Gln) c.*2861C>A (n.*2861C>A) c.4259C>A (p.Pro1420Gln) c.4241C>A (p.Pro1414Gln) | COSMIC |
| 22 | g.50722095C= | CA2411008615 | SHANK3 | c.3863C= (p.Pro1288=) n.4447C= c.2915C= (p.Pro972=) c.2405C= (p.Pro802=) c.*2861C= (n.*2861C=) c.4259C= (p.Pro1420=) c.4241C= (p.Pro1414=) | |
| 22 | g.50722095C>G | CA515264417 | SHANK3 | c.3863C>G (p.Pro1288Arg) n.4447C>G c.2915C>G (p.Pro972Arg) c.2405C>G (p.Pro802Arg) c.*2861C>G (n.*2861C>G) c.4259C>G (p.Pro1420Arg) c.4241C>G (p.Pro1414Arg) | gnomAD v4 |
| 22 | g.50722095C>T | CA10326233 | SHANK3 | c.3863C>T (p.Pro1288Leu) n.4447C>T c.2915C>T (p.Pro972Leu) c.2405C>T (p.Pro802Leu) c.*2861C>T (n.*2861C>T) c.4259C>T (p.Pro1420Leu) c.4241C>T (p.Pro1414Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722096G>A | CA10326234 | SHANK3 | c.3864G>A (p.Pro1288=) n.4448G>A c.2916G>A (p.Pro972=) c.2406G>A (p.Pro802=) c.*2862G>A (n.*2862G>A) c.4260G>A (p.Pro1420=) c.4242G>A (p.Pro1414=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722096G>C | CA515264419 | SHANK3 | c.3864G>C (p.Pro1288=) n.4448G>C c.2916G>C (p.Pro972=) c.2406G>C (p.Pro802=) c.*2862G>C (n.*2862G>C) c.4260G>C (p.Pro1420=) c.4242G>C (p.Pro1414=) | dbSNP |
| 22 | g.50722096G= | CA2411008616 | SHANK3 | c.3864G= (p.Pro1288=) n.4448G= c.2916G= (p.Pro972=) c.2406G= (p.Pro802=) c.*2862G= (n.*2862G=) c.4260G= (p.Pro1420=) c.4242G= (p.Pro1414=) | |
| 22 | g.50722096G>T | CA515264418 | SHANK3 | c.3864G>T (p.Pro1288=) n.4448G>T c.2916G>T (p.Pro972=) c.2406G>T (p.Pro802=) c.*2862G>T (n.*2862G>T) c.4260G>T (p.Pro1420=) c.4242G>T (p.Pro1414=) | |
| 22 | g.50722097C>A | CA515264420 | SHANK3 | c.3865C>A (p.Leu1289Met) n.4449C>A c.2917C>A (p.Leu973Met) c.2407C>A (p.Leu803Met) c.*2863C>A (n.*2863C>A) c.4261C>A (p.Leu1421Met) c.4243C>A (p.Leu1415Met) | |
| 22 | g.50722097C= | CA2411008617 | SHANK3 | c.3865C= (p.Leu1289=) n.4449C= c.2917C= (p.Leu973=) c.2407C= (p.Leu803=) c.*2863C= (n.*2863C=) c.4261C= (p.Leu1421=) c.4243C= (p.Leu1415=) | |
| 22 | g.50722097C>G | CA515264421 | SHANK3 | c.3865C>G (p.Leu1289Val) n.4449C>G c.2917C>G (p.Leu973Val) c.2407C>G (p.Leu803Val) c.*2863C>G (n.*2863C>G) c.4261C>G (p.Leu1421Val) c.4243C>G (p.Leu1415Val) | |
| 22 | g.50722097C>T | CA10326235 | SHANK3 | c.3865C>T (p.Leu1289=) n.4449C>T c.2917C>T (p.Leu973=) c.2407C>T (p.Leu803=) c.*2863C>T (n.*2863C>T) c.4261C>T (p.Leu1421=) c.4243C>T (p.Leu1415=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722098T>A | CA515264422 | SHANK3 | c.3866T>A (p.Leu1289Gln) n.4450T>A c.2918T>A (p.Leu973Gln) c.2408T>A (p.Leu803Gln) c.*2864T>A (n.*2864T>A) c.4262T>A (p.Leu1421Gln) c.4244T>A (p.Leu1415Gln) | |
| 22 | g.50722098T>C | CA515264423 | SHANK3 | c.3866T>C (p.Leu1289Pro) n.4450T>C c.2918T>C (p.Leu973Pro) c.2408T>C (p.Leu803Pro) c.*2864T>C (n.*2864T>C) c.4262T>C (p.Leu1421Pro) c.4244T>C (p.Leu1415Pro) | dbSNP |
| 22 | g.50722098T>G | CA515264424 | SHANK3 | c.3866T>G (p.Leu1289Arg) n.4450T>G c.2918T>G (p.Leu973Arg) c.2408T>G (p.Leu803Arg) c.*2864T>G (n.*2864T>G) c.4262T>G (p.Leu1421Arg) c.4244T>G (p.Leu1415Arg) | |
| 22 | g.50722098T= | CA2411008618 | SHANK3 | c.3866T= (p.Leu1289=) n.4450T= c.2918T= (p.Leu973=) c.2408T= (p.Leu803=) c.*2864T= (n.*2864T=) c.4262T= (p.Leu1421=) c.4244T= (p.Leu1415=) | |
| 22 | g.50722099G>A | CA515264425 | SHANK3 | c.3867G>A (p.Leu1289=) n.4451G>A c.2919G>A (p.Leu973=) c.2409G>A (p.Leu803=) c.*2865G>A (n.*2865G>A) c.4263G>A (p.Leu1421=) c.4245G>A (p.Leu1415=) | dbSNP |
| 22 | g.50722099G>C | CA515264426 | SHANK3 | c.3867G>C (p.Leu1289=) n.4451G>C c.2919G>C (p.Leu973=) c.2409G>C (p.Leu803=) c.*2865G>C (n.*2865G>C) c.4263G>C (p.Leu1421=) c.4245G>C (p.Leu1415=) | |
| 22 | g.50722099G= | CA2411008619 | SHANK3 | c.3867G= (p.Leu1289=) n.4451G= c.2919G= (p.Leu973=) c.2409G= (p.Leu803=) c.*2865G= (n.*2865G=) c.4263G= (p.Leu1421=) c.4245G= (p.Leu1415=) | |
| 22 | g.50722099G>T | CA515264427 | SHANK3 | c.3867G>T (p.Leu1289=) n.4451G>T c.2919G>T (p.Leu973=) c.2409G>T (p.Leu803=) c.*2865G>T (n.*2865G>T) c.4263G>T (p.Leu1421=) c.4245G>T (p.Leu1415=) | |
| 22 | g.50722100G>A | CA515264428 | SHANK3 | c.3868G>A (p.Gly1290Arg) n.4452G>A c.2920G>A (p.Gly974Arg) c.2410G>A (p.Gly804Arg) c.*2866G>A (n.*2866G>A) c.4264G>A (p.Gly1422Arg) c.4246G>A (p.Gly1416Arg) | |
| 22 | g.50722100G>C | CA515264429 | SHANK3 | c.3868G>C (p.Gly1290Arg) n.4452G>C c.2920G>C (p.Gly974Arg) c.2410G>C (p.Gly804Arg) c.*2866G>C (n.*2866G>C) c.4264G>C (p.Gly1422Arg) c.4246G>C (p.Gly1416Arg) | dbSNP gnomAD v4 |
| 22 | g.50722100G= | CA2411008620 | SHANK3 | c.3868G= (p.Gly1290=) n.4452G= c.2920G= (p.Gly974=) c.2410G= (p.Gly804=) c.*2866G= (n.*2866G=) c.4264G= (p.Gly1422=) c.4246G= (p.Gly1416=) | |
| 22 | g.50722100G>T | CA515264430 | SHANK3 | c.3868G>T (p.Gly1290Trp) n.4452G>T c.2920G>T (p.Gly974Trp) c.2410G>T (p.Gly804Trp) c.*2866G>T (n.*2866G>T) c.4264G>T (p.Gly1422Trp) c.4246G>T (p.Gly1416Trp) | gnomAD v4 |
| 22 | g.50722101G>A | CA515264431 | SHANK3 | c.3869G>A (p.Gly1290Glu) n.4453G>A c.2921G>A (p.Gly974Glu) c.2411G>A (p.Gly804Glu) c.*2867G>A (n.*2867G>A) c.4265G>A (p.Gly1422Glu) c.4247G>A (p.Gly1416Glu) | dbSNP gnomAD v2 |
| 22 | g.50722101G>C | CA515264433 | SHANK3 | c.3869G>C (p.Gly1290Ala) n.4453G>C c.2921G>C (p.Gly974Ala) c.2411G>C (p.Gly804Ala) c.*2867G>C (n.*2867G>C) c.4265G>C (p.Gly1422Ala) c.4247G>C (p.Gly1416Ala) | |
| 22 | g.50722101G= | CA2411008621 | SHANK3 | c.3869G= (p.Gly1290=) n.4453G= c.2921G= (p.Gly974=) c.2411G= (p.Gly804=) c.*2867G= (n.*2867G=) c.4265G= (p.Gly1422=) c.4247G= (p.Gly1416=) | |
| 22 | g.50722101G>T | CA515264432 | SHANK3 | c.3869G>T (p.Gly1290Val) n.4453G>T c.2921G>T (p.Gly974Val) c.2411G>T (p.Gly804Val) c.*2867G>T (n.*2867G>T) c.4265G>T (p.Gly1422Val) c.4247G>T (p.Gly1416Val) | |
| 22 | g.50722102G>A | CA515264434 | SHANK3 | c.3870G>A (p.Gly1290=) n.4454G>A c.2922G>A (p.Gly974=) c.2412G>A (p.Gly804=) c.*2868G>A (n.*2868G>A) c.4266G>A (p.Gly1422=) c.4248G>A (p.Gly1416=) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50722102G>C | CA515264435 | SHANK3 | c.3870G>C (p.Gly1290=) n.4454G>C c.2922G>C (p.Gly974=) c.2412G>C (p.Gly804=) c.*2868G>C (n.*2868G>C) c.4266G>C (p.Gly1422=) c.4248G>C (p.Gly1416=) | |
| 22 | g.50722102G>T | CA515264436 | SHANK3 | c.3870G>T (p.Gly1290=) n.4454G>T c.2922G>T (p.Gly974=) c.2412G>T (p.Gly804=) c.*2868G>T (n.*2868G>T) c.4266G>T (p.Gly1422=) c.4248G>T (p.Gly1416=) | |
| 22 | g.50722103A>C | CA515264437 | SHANK3 | c.3871A>C (p.Lys1291Gln) n.4455A>C c.2923A>C (p.Lys975Gln) c.2413A>C (p.Lys805Gln) c.*2869A>C (n.*2869A>C) c.4267A>C (p.Lys1423Gln) c.4249A>C (p.Lys1417Gln) | |
| 22 | g.50722103A>G | CA515264438 | SHANK3 | c.3871A>G (p.Lys1291Glu) n.4455A>G c.2923A>G (p.Lys975Glu) c.2413A>G (p.Lys805Glu) c.*2869A>G (n.*2869A>G) c.4267A>G (p.Lys1423Glu) c.4249A>G (p.Lys1417Glu) | |
| 22 | g.50722103A>T | CA515264439 | SHANK3 | c.3871A>T (p.Lys1291Ter) n.4455A>T c.2923A>T (p.Lys975Ter) c.2413A>T (p.Lys805Ter) c.*2869A>T (n.*2869A>T) c.4267A>T (p.Lys1423Ter) c.4249A>T (p.Lys1417Ter) | |
| 22 | g.50722104A= | CA2411008622 | SHANK3 | c.3872A= (p.Lys1291=) n.4456A= c.2924A= (p.Lys975=) c.2414A= (p.Lys805=) c.*2870A= (n.*2870A=) c.4268A= (p.Lys1423=) c.4250A= (p.Lys1417=) | |
| 22 | g.50722104A>C | CA515264440 | SHANK3 | c.3872A>C (p.Lys1291Thr) n.4456A>C c.2924A>C (p.Lys975Thr) c.2414A>C (p.Lys805Thr) c.*2870A>C (n.*2870A>C) c.4268A>C (p.Lys1423Thr) c.4250A>C (p.Lys1417Thr) | |
| 22 | g.50722104A>G | CA515264441 | SHANK3 | c.3872A>G (p.Lys1291Arg) n.4456A>G c.2924A>G (p.Lys975Arg) c.2414A>G (p.Lys805Arg) c.*2870A>G (n.*2870A>G) c.4268A>G (p.Lys1423Arg) c.4250A>G (p.Lys1417Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722104A>T | CA515264442 | SHANK3 | c.3872A>T (p.Lys1291Met) n.4456A>T c.2924A>T (p.Lys975Met) c.2414A>T (p.Lys805Met) c.*2870A>T (n.*2870A>T) c.4268A>T (p.Lys1423Met) c.4250A>T (p.Lys1417Met) | |
| 22 | g.50722105G>A | CA515264443 | SHANK3 | c.3873G>A (p.Lys1291=) n.4457G>A c.2925G>A (p.Lys975=) c.2415G>A (p.Lys805=) c.*2871G>A (n.*2871G>A) c.4269G>A (p.Lys1423=) c.4251G>A (p.Lys1417=) | |
| 22 | g.50722105G>C | CA515264444 | SHANK3 | c.3873G>C (p.Lys1291Asn) n.4457G>C c.2925G>C (p.Lys975Asn) c.2415G>C (p.Lys805Asn) c.*2871G>C (n.*2871G>C) c.4269G>C (p.Lys1423Asn) c.4251G>C (p.Lys1417Asn) | |
| 22 | g.50722105G>T | CA515264445 | SHANK3 | c.3873G>T (p.Lys1291Asn) n.4457G>T c.2925G>T (p.Lys975Asn) c.2415G>T (p.Lys805Asn) c.*2871G>T (n.*2871G>T) c.4269G>T (p.Lys1423Asn) c.4251G>T (p.Lys1417Asn) | |
| 22 | g.50722107_50722108del | CA923726106 | SHANK3 | c.3875_3876del (p.Gly1292AlafsTer?) n.4459_4460del c.2927_2928del (p.Gly976AlafsTer?) c.2417_2418del (p.Gly806AlafsTer?) c.*2873_*2874del (n.*2873_*2874del) c.4271_4272del (p.Gly1424AlafsTer?) c.4253_4254del (p.Gly1418AlafsTer?) | |
| 22 | g.50722106G>A | CA515264448 | SHANK3 | c.3874G>A (p.Gly1292Arg) n.4458G>A c.2926G>A (p.Gly976Arg) c.2416G>A (p.Gly806Arg) c.*2872G>A (n.*2872G>A) c.4270G>A (p.Gly1424Arg) c.4252G>A (p.Gly1418Arg) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50722106G>C | CA515264447 | SHANK3 | c.3874G>C (p.Gly1292Arg) n.4458G>C c.2926G>C (p.Gly976Arg) c.2416G>C (p.Gly806Arg) c.*2872G>C (n.*2872G>C) c.4270G>C (p.Gly1424Arg) c.4252G>C (p.Gly1418Arg) | dbSNP |
| 22 | g.50722106G= | CA2411008623 | SHANK3 | c.3874G= (p.Gly1292=) n.4458G= c.2926G= (p.Gly976=) c.2416G= (p.Gly806=) c.*2872G= (n.*2872G=) c.4270G= (p.Gly1424=) c.4252G= (p.Gly1418=) | |
| 22 | g.50722106G>T | CA515264446 | SHANK3 | c.3874G>T (p.Gly1292Trp) n.4458G>T c.2926G>T (p.Gly976Trp) c.2416G>T (p.Gly806Trp) c.*2872G>T (n.*2872G>T) c.4270G>T (p.Gly1424Trp) c.4252G>T (p.Gly1418Trp) | |
| 22 | g.50722107G>A | CA515264449 | SHANK3 | c.3875G>A (p.Gly1292Glu) n.4459G>A c.2927G>A (p.Gly976Glu) c.2417G>A (p.Gly806Glu) c.*2873G>A (n.*2873G>A) c.4271G>A (p.Gly1424Glu) c.4253G>A (p.Gly1418Glu) | |
| 22 | g.50722107G>C | CA515264450 | SHANK3 | c.3875G>C (p.Gly1292Ala) n.4459G>C c.2927G>C (p.Gly976Ala) c.2417G>C (p.Gly806Ala) c.*2873G>C (n.*2873G>C) c.4271G>C (p.Gly1424Ala) c.4253G>C (p.Gly1418Ala) | gnomAD v4 |
| 22 | g.50722107G>T | CA515264451 | SHANK3 | c.3875G>T (p.Gly1292Val) n.4459G>T c.2927G>T (p.Gly976Val) c.2417G>T (p.Gly806Val) c.*2873G>T (n.*2873G>T) c.4271G>T (p.Gly1424Val) c.4253G>T (p.Gly1418Val) | |
| 22 | g.50722108G>A | CA10326236 | SHANK3 | c.3876G>A (p.Gly1292=) n.4460G>A c.2928G>A (p.Gly976=) c.2418G>A (p.Gly806=) c.*2874G>A (n.*2874G>A) c.4272G>A (p.Gly1424=) c.4254G>A (p.Gly1418=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722108G>C | CA515264452 | SHANK3 | c.3876G>C (p.Gly1292=) n.4460G>C c.2928G>C (p.Gly976=) c.2418G>C (p.Gly806=) c.*2874G>C (n.*2874G>C) c.4272G>C (p.Gly1424=) c.4254G>C (p.Gly1418=) | |
| 22 | g.50722108G= | CA2411008624 | SHANK3 | c.3876G= (p.Gly1292=) n.4460G= c.2928G= (p.Gly976=) c.2418G= (p.Gly806=) c.*2874G= (n.*2874G=) c.4272G= (p.Gly1424=) c.4254G= (p.Gly1418=) | |
| 22 | g.50722108G>T | CA515264453 | SHANK3 | c.3876G>T (p.Gly1292=) n.4460G>T c.2928G>T (p.Gly976=) c.2418G>T (p.Gly806=) c.*2874G>T (n.*2874G>T) c.4272G>T (p.Gly1424=) c.4254G>T (p.Gly1418=) | |
| 22 | g.50722109C>A | CA515264454 | SHANK3 | c.3877C>A (p.Pro1293Thr) n.4461C>A c.2929C>A (p.Pro977Thr) c.2419C>A (p.Pro807Thr) c.*2875C>A (n.*2875C>A) c.4273C>A (p.Pro1425Thr) c.4255C>A (p.Pro1419Thr) | |
| 22 | g.50722109C= | CA2411008625 | SHANK3 | c.3877C= (p.Pro1293=) n.4461C= c.2929C= (p.Pro977=) c.2419C= (p.Pro807=) c.*2875C= (n.*2875C=) c.4273C= (p.Pro1425=) c.4255C= (p.Pro1419=) | |
| 22 | g.50722109C>G | CA515264455 | SHANK3 | c.3877C>G (p.Pro1293Ala) n.4461C>G c.2929C>G (p.Pro977Ala) c.2419C>G (p.Pro807Ala) c.*2875C>G (n.*2875C>G) c.4273C>G (p.Pro1425Ala) c.4255C>G (p.Pro1419Ala) | |
| 22 | g.50722109C>T | CA515264456 | SHANK3 | c.3877C>T (p.Pro1293Ser) n.4461C>T c.2929C>T (p.Pro977Ser) c.2419C>T (p.Pro807Ser) c.*2875C>T (n.*2875C>T) c.4273C>T (p.Pro1425Ser) c.4255C>T (p.Pro1419Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722110C>A | CA515264457 | SHANK3 | c.3878C>A (p.Pro1293Gln) n.4462C>A c.2930C>A (p.Pro977Gln) c.2420C>A (p.Pro807Gln) c.*2876C>A (n.*2876C>A) c.4274C>A (p.Pro1425Gln) c.4256C>A (p.Pro1419Gln) | |
| 22 | g.50722110C= | CA2411008626 | SHANK3 | c.3878C= (p.Pro1293=) n.4462C= c.2930C= (p.Pro977=) c.2420C= (p.Pro807=) c.*2876C= (n.*2876C=) c.4274C= (p.Pro1425=) c.4256C= (p.Pro1419=) | |
| 22 | g.50722110C>G | CA515264458 | SHANK3 | c.3878C>G (p.Pro1293Arg) n.4462C>G c.2930C>G (p.Pro977Arg) c.2420C>G (p.Pro807Arg) c.*2876C>G (n.*2876C>G) c.4274C>G (p.Pro1425Arg) c.4256C>G (p.Pro1419Arg) | |
| 22 | g.50722110C>T | CA10326237 | SHANK3 | c.3878C>T (p.Pro1293Leu) n.4462C>T c.2930C>T (p.Pro977Leu) c.2420C>T (p.Pro807Leu) c.*2876C>T (n.*2876C>T) c.4274C>T (p.Pro1425Leu) c.4256C>T (p.Pro1419Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722111G>A | CA10326238 | SHANK3 | c.3879G>A (p.Pro1293=) n.4463G>A c.2931G>A (p.Pro977=) c.2421G>A (p.Pro807=) c.*2877G>A (n.*2877G>A) c.4275G>A (p.Pro1425=) c.4257G>A (p.Pro1419=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722111G>C | CA515264460 | SHANK3 | c.3879G>C (p.Pro1293=) n.4463G>C c.2931G>C (p.Pro977=) c.2421G>C (p.Pro807=) c.*2877G>C (n.*2877G>C) c.4275G>C (p.Pro1425=) c.4257G>C (p.Pro1419=) | |
| 22 | g.50722111G= | CA2411008627 | SHANK3 | c.3879G= (p.Pro1293=) n.4463G= c.2931G= (p.Pro977=) c.2421G= (p.Pro807=) c.*2877G= (n.*2877G=) c.4275G= (p.Pro1425=) c.4257G= (p.Pro1419=) | |
| 22 | g.50722111G>T | CA515264459 | SHANK3 | c.3879G>T (p.Pro1293=) n.4463G>T c.2931G>T (p.Pro977=) c.2421G>T (p.Pro807=) c.*2877G>T (n.*2877G>T) c.4275G>T (p.Pro1425=) c.4257G>T (p.Pro1419=) | |
| 22 | g.50722112G>A | CA515264461 | SHANK3 | c.3880G>A (p.Val1294Met) n.4464G>A c.2932G>A (p.Val978Met) c.2422G>A (p.Val808Met) c.*2878G>A (n.*2878G>A) c.4276G>A (p.Val1426Met) c.4258G>A (p.Val1420Met) | |
| 22 | g.50722112G>C | CA515264463 | SHANK3 | c.3880G>C (p.Val1294Leu) n.4464G>C c.2932G>C (p.Val978Leu) c.2422G>C (p.Val808Leu) c.*2878G>C (n.*2878G>C) c.4276G>C (p.Val1426Leu) c.4258G>C (p.Val1420Leu) | |
| 22 | g.50722112G>T | CA515264462 | SHANK3 | c.3880G>T (p.Val1294Leu) n.4464G>T c.2932G>T (p.Val978Leu) c.2422G>T (p.Val808Leu) c.*2878G>T (n.*2878G>T) c.4276G>T (p.Val1426Leu) c.4258G>T (p.Val1420Leu) | |
| 22 | g.50722113T>A | CA515264464 | SHANK3 | c.3881T>A (p.Val1294Glu) n.4465T>A c.2933T>A (p.Val978Glu) c.2423T>A (p.Val808Glu) c.*2879T>A (n.*2879T>A) c.4277T>A (p.Val1426Glu) c.4259T>A (p.Val1420Glu) | dbSNP |
| 22 | g.50722113T>C | CA515264466 | SHANK3 | c.3881T>C (p.Val1294Ala) n.4465T>C c.2933T>C (p.Val978Ala) c.2423T>C (p.Val808Ala) c.*2879T>C (n.*2879T>C) c.4277T>C (p.Val1426Ala) c.4259T>C (p.Val1420Ala) | |
| 22 | g.50722113T>G | CA515264465 | SHANK3 | c.3881T>G (p.Val1294Gly) n.4465T>G c.2933T>G (p.Val978Gly) c.2423T>G (p.Val808Gly) c.*2879T>G (n.*2879T>G) c.4277T>G (p.Val1426Gly) c.4259T>G (p.Val1420Gly) | |
| 22 | g.50722113T= | CA2411008628 | SHANK3 | c.3881T= (p.Val1294=) n.4465T= c.2933T= (p.Val978=) c.2423T= (p.Val808=) c.*2879T= (n.*2879T=) c.4277T= (p.Val1426=) c.4259T= (p.Val1420=) | |
| 22 | g.50722114G>A | CA515264467 | SHANK3 | c.3882G>A (p.Val1294=) n.4466G>A c.2934G>A (p.Val978=) c.2424G>A (p.Val808=) c.*2880G>A (n.*2880G>A) c.4278G>A (p.Val1426=) c.4260G>A (p.Val1420=) | |
| 22 | g.50722114G>C | CA515264468 | SHANK3 | c.3882G>C (p.Val1294=) n.4466G>C c.2934G>C (p.Val978=) c.2424G>C (p.Val808=) c.*2880G>C (n.*2880G>C) c.4278G>C (p.Val1426=) c.4260G>C (p.Val1420=) | |
| 22 | g.50722114G>T | CA515264469 | SHANK3 | c.3882G>T (p.Val1294=) n.4466G>T c.2934G>T (p.Val978=) c.2424G>T (p.Val808=) c.*2880G>T (n.*2880G>T) c.4278G>T (p.Val1426=) c.4260G>T (p.Val1420=) | |
| 22 | g.50722115A>C | CA515264470 | SHANK3 | c.3883A>C (p.Thr1295Pro) n.4467A>C c.2935A>C (p.Thr979Pro) c.2425A>C (p.Thr809Pro) c.*2881A>C (n.*2881A>C) c.4279A>C (p.Thr1427Pro) c.4261A>C (p.Thr1421Pro) | |
| 22 | g.50722115A>G | CA515264471 | SHANK3 | c.3883A>G (p.Thr1295Ala) n.4467A>G c.2935A>G (p.Thr979Ala) c.2425A>G (p.Thr809Ala) c.*2881A>G (n.*2881A>G) c.4279A>G (p.Thr1427Ala) c.4261A>G (p.Thr1421Ala) | gnomAD v4 |
| 22 | g.50722115A>T | CA515264472 | SHANK3 | c.3883A>T (p.Thr1295Ser) n.4467A>T c.2935A>T (p.Thr979Ser) c.2425A>T (p.Thr809Ser) c.*2881A>T (n.*2881A>T) c.4279A>T (p.Thr1427Ser) c.4261A>T (p.Thr1421Ser) | |
| 22 | g.50722116C>A | CA515264473 | SHANK3 | c.3884C>A (p.Thr1295Asn) n.4468C>A c.2936C>A (p.Thr979Asn) c.2426C>A (p.Thr809Asn) c.*2882C>A (n.*2882C>A) c.4280C>A (p.Thr1427Asn) c.4262C>A (p.Thr1421Asn) | |
| 22 | g.50722116C= | CA2411008629 | SHANK3 | c.3884C= (p.Thr1295=) n.4468C= c.2936C= (p.Thr979=) c.2426C= (p.Thr809=) c.*2882C= (n.*2882C=) c.4280C= (p.Thr1427=) c.4262C= (p.Thr1421=) | |
| 22 | g.50722116C>G | CA515264474 | SHANK3 | c.3884C>G (p.Thr1295Ser) n.4468C>G c.2936C>G (p.Thr979Ser) c.2426C>G (p.Thr809Ser) c.*2882C>G (n.*2882C>G) c.4280C>G (p.Thr1427Ser) c.4262C>G (p.Thr1421Ser) | |
| 22 | g.50722116C>T | CA10326239 | SHANK3 | c.3884C>T (p.Thr1295Ile) n.4468C>T c.2936C>T (p.Thr979Ile) c.2426C>T (p.Thr809Ile) c.*2882C>T (n.*2882C>T) c.4280C>T (p.Thr1427Ile) c.4262C>T (p.Thr1421Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722117C>A | CA515264475 | SHANK3 | c.3885C>A (p.Thr1295=) n.4469C>A c.2937C>A (p.Thr979=) c.2427C>A (p.Thr809=) c.*2883C>A (n.*2883C>A) c.4281C>A (p.Thr1427=) c.4263C>A (p.Thr1421=) | |
| 22 | g.50722117C>G | CA515264476 | SHANK3 | c.3885C>G (p.Thr1295=) n.4469C>G c.2937C>G (p.Thr979=) c.2427C>G (p.Thr809=) c.*2883C>G (n.*2883C>G) c.4281C>G (p.Thr1427=) c.4263C>G (p.Thr1421=) | |
| 22 | g.50722117C>T | CA515264477 | SHANK3 | c.3885C>T (p.Thr1295=) n.4469C>T c.2937C>T (p.Thr979=) c.2427C>T (p.Thr809=) c.*2883C>T (n.*2883C>T) c.4281C>T (p.Thr1427=) c.4263C>T (p.Thr1421=) | gnomAD v4 |
| 22 | g.50722118T>A | CA515264478 | SHANK3 | c.3886T>A (p.Phe1296Ile) n.4470T>A c.2938T>A (p.Phe980Ile) c.2428T>A (p.Phe810Ile) c.*2884T>A (n.*2884T>A) c.4282T>A (p.Phe1428Ile) c.4264T>A (p.Phe1422Ile) | |
| 22 | g.50722118T>C | CA515264480 | SHANK3 | c.3886T>C (p.Phe1296Leu) n.4470T>C c.2938T>C (p.Phe980Leu) c.2428T>C (p.Phe810Leu) c.*2884T>C (n.*2884T>C) c.4282T>C (p.Phe1428Leu) c.4264T>C (p.Phe1422Leu) | gnomAD v4 |
| 22 | g.50722118T>G | CA515264479 | SHANK3 | c.3886T>G (p.Phe1296Val) n.4470T>G c.2938T>G (p.Phe980Val) c.2428T>G (p.Phe810Val) c.*2884T>G (n.*2884T>G) c.4282T>G (p.Phe1428Val) c.4264T>G (p.Phe1422Val) | |
| 22 | g.50722119T>A | CA515264481 | SHANK3 | c.3887T>A (p.Phe1296Tyr) n.4471T>A c.2939T>A (p.Phe980Tyr) c.2429T>A (p.Phe810Tyr) c.*2885T>A (n.*2885T>A) c.4283T>A (p.Phe1428Tyr) c.4265T>A (p.Phe1422Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722119T>C | CA515264482 | SHANK3 | c.3887T>C (p.Phe1296Ser) n.4471T>C c.2939T>C (p.Phe980Ser) c.2429T>C (p.Phe810Ser) c.*2885T>C (n.*2885T>C) c.4283T>C (p.Phe1428Ser) c.4265T>C (p.Phe1422Ser) | |
| 22 | g.50722119T>G | CA515264483 | SHANK3 | c.3887T>G (p.Phe1296Cys) n.4471T>G c.2939T>G (p.Phe980Cys) c.2429T>G (p.Phe810Cys) c.*2885T>G (n.*2885T>G) c.4283T>G (p.Phe1428Cys) c.4265T>G (p.Phe1422Cys) | |
| 22 | g.50722119T= | CA2411008630 | SHANK3 | c.3887T= (p.Phe1296=) n.4471T= c.2939T= (p.Phe980=) c.2429T= (p.Phe810=) c.*2885T= (n.*2885T=) c.4283T= (p.Phe1428=) c.4265T= (p.Phe1422=) | |
| 22 | g.50722120C>A | CA515264484 | SHANK3 | c.3888C>A (p.Phe1296Leu) n.4472C>A c.2940C>A (p.Phe980Leu) c.2430C>A (p.Phe810Leu) c.*2886C>A (n.*2886C>A) c.4284C>A (p.Phe1428Leu) c.4266C>A (p.Phe1422Leu) | |
| 22 | g.50722120C= | CA2411008631 | SHANK3 | c.3888C= (p.Phe1296=) n.4472C= c.2940C= (p.Phe980=) c.2430C= (p.Phe810=) c.*2886C= (n.*2886C=) c.4284C= (p.Phe1428=) c.4266C= (p.Phe1422=) | |
| 22 | g.50722120C>G | CA515264485 | SHANK3 | c.3888C>G (p.Phe1296Leu) n.4472C>G c.2940C>G (p.Phe980Leu) c.2430C>G (p.Phe810Leu) c.*2886C>G (n.*2886C>G) c.4284C>G (p.Phe1428Leu) c.4266C>G (p.Phe1422Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722120C>T | CA515264486 | SHANK3 | c.3888C>T (p.Phe1296=) n.4472C>T c.2940C>T (p.Phe980=) c.2430C>T (p.Phe810=) c.*2886C>T (n.*2886C>T) c.4284C>T (p.Phe1428=) c.4266C>T (p.Phe1422=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722121A>C | CA515264487 | SHANK3 | c.3889A>C (p.Arg1297=) n.4473A>C c.2941A>C (p.Arg981=) c.2431A>C (p.Arg811=) c.*2887A>C (n.*2887A>C) c.4285A>C (p.Arg1429=) c.4267A>C (p.Arg1423=) | COSMIC COSMIC |
| 22 | g.50722121A>G | CA515264488 | SHANK3 | c.3889A>G (p.Arg1297Gly) n.4473A>G c.2941A>G (p.Arg981Gly) c.2431A>G (p.Arg811Gly) c.*2887A>G (n.*2887A>G) c.4285A>G (p.Arg1429Gly) c.4267A>G (p.Arg1423Gly) | |
| 22 | g.50722121A>T | CA515264489 | SHANK3 | c.3889A>T (p.Arg1297Trp) n.4473A>T c.2941A>T (p.Arg981Trp) c.2431A>T (p.Arg811Trp) c.*2887A>T (n.*2887A>T) c.4285A>T (p.Arg1429Trp) c.4267A>T (p.Arg1423Trp) | |
| 22 | g.50722122G>A | CA515264491 | SHANK3 | c.3890G>A (p.Arg1297Lys) n.4474G>A c.2942G>A (p.Arg981Lys) c.2432G>A (p.Arg811Lys) c.*2888G>A (n.*2888G>A) c.4286G>A (p.Arg1429Lys) c.4268G>A (p.Arg1423Lys) | COSMIC COSMIC |
| 22 | g.50722122G>C | CA515264492 | SHANK3 | c.3890G>C (p.Arg1297Thr) n.4474G>C c.2942G>C (p.Arg981Thr) c.2432G>C (p.Arg811Thr) c.*2888G>C (n.*2888G>C) c.4286G>C (p.Arg1429Thr) c.4268G>C (p.Arg1423Thr) | |
| 22 | g.50722122G>T | CA515264490 | SHANK3 | c.3890G>T (p.Arg1297Met) n.4474G>T c.2942G>T (p.Arg981Met) c.2432G>T (p.Arg811Met) c.*2888G>T (n.*2888G>T) c.4286G>T (p.Arg1429Met) c.4268G>T (p.Arg1423Met) | |
| 22 | g.50722123G>A | CA515264493 | SHANK3 | c.3891G>A (p.Arg1297=) n.4475G>A c.2943G>A (p.Arg981=) c.2433G>A (p.Arg811=) c.*2889G>A (n.*2889G>A) c.4287G>A (p.Arg1429=) c.4269G>A (p.Arg1423=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722123G>C | CA515264494 | SHANK3 | c.3891G>C (p.Arg1297Ser) n.4475G>C c.2943G>C (p.Arg981Ser) c.2433G>C (p.Arg811Ser) c.*2889G>C (n.*2889G>C) c.4287G>C (p.Arg1429Ser) c.4269G>C (p.Arg1423Ser) | |
| 22 | g.50722123G= | CA2411008632 | SHANK3 | c.3891G= (p.Arg1297=) n.4475G= c.2943G= (p.Arg981=) c.2433G= (p.Arg811=) c.*2889G= (n.*2889G=) c.4287G= (p.Arg1429=) c.4269G= (p.Arg1423=) | |
| 22 | g.50722123G>T | CA515264495 | SHANK3 | c.3891G>T (p.Arg1297Ser) n.4475G>T c.2943G>T (p.Arg981Ser) c.2433G>T (p.Arg811Ser) c.*2889G>T (n.*2889G>T) c.4287G>T (p.Arg1429Ser) c.4269G>T (p.Arg1423Ser) | dbSNP gnomAD v2 |
| 22 | g.50722124G>A | CA515264496 | SHANK3 | c.3892G>A (p.Asp1298Asn) n.4476G>A c.2944G>A (p.Asp982Asn) c.2434G>A (p.Asp812Asn) c.*2890G>A (n.*2890G>A) c.4288G>A (p.Asp1430Asn) c.4270G>A (p.Asp1424Asn) | |
| 22 | g.50722124G>C | CA515264497 | SHANK3 | c.3892G>C (p.Asp1298His) n.4476G>C c.2944G>C (p.Asp982His) c.2434G>C (p.Asp812His) c.*2890G>C (n.*2890G>C) c.4288G>C (p.Asp1430His) c.4270G>C (p.Asp1424His) | |
| 22 | g.50722124G= | CA2411008633 | SHANK3 | c.3892G= (p.Asp1298=) n.4476G= c.2944G= (p.Asp982=) c.2434G= (p.Asp812=) c.*2890G= (n.*2890G=) c.4288G= (p.Asp1430=) c.4270G= (p.Asp1424=) | |
| 22 | g.50722124G>T | CA515264499 | SHANK3 | c.3892G>T (p.Asp1298Tyr) n.4476G>T c.2944G>T (p.Asp982Tyr) c.2434G>T (p.Asp812Tyr) c.*2890G>T (n.*2890G>T) c.4288G>T (p.Asp1430Tyr) c.4270G>T (p.Asp1424Tyr) | dbSNP gnomAD v2 |
| 22 | g.50722125A>C | CA515264501 | SHANK3 | c.3893A>C (p.Asp1298Ala) n.4477A>C c.2945A>C (p.Asp982Ala) c.2435A>C (p.Asp812Ala) c.*2891A>C (n.*2891A>C) c.4289A>C (p.Asp1430Ala) c.4271A>C (p.Asp1424Ala) | |
| 22 | g.50722125A>G | CA515264503 | SHANK3 | c.3893A>G (p.Asp1298Gly) n.4477A>G c.2945A>G (p.Asp982Gly) c.2435A>G (p.Asp812Gly) c.*2891A>G (n.*2891A>G) c.4289A>G (p.Asp1430Gly) c.4271A>G (p.Asp1424Gly) | COSMIC COSMIC |
| 22 | g.50722125A>T | CA515264504 | SHANK3 | c.3893A>T (p.Asp1298Val) n.4477A>T c.2945A>T (p.Asp982Val) c.2435A>T (p.Asp812Val) c.*2891A>T (n.*2891A>T) c.4289A>T (p.Asp1430Val) c.4271A>T (p.Asp1424Val) | |
| 22 | g.50722126C>A | CA515264505 | SHANK3 | c.3894C>A (p.Asp1298Glu) n.4478C>A c.2946C>A (p.Asp982Glu) c.2436C>A (p.Asp812Glu) c.*2892C>A (n.*2892C>A) c.4290C>A (p.Asp1430Glu) c.4272C>A (p.Asp1424Glu) | |
| 22 | g.50722126C>G | CA515264506 | SHANK3 | c.3894C>G (p.Asp1298Glu) n.4478C>G c.2946C>G (p.Asp982Glu) c.2436C>G (p.Asp812Glu) c.*2892C>G (n.*2892C>G) c.4290C>G (p.Asp1430Glu) c.4272C>G (p.Asp1424Glu) | |
| 22 | g.50722126C>T | CA515264507 | SHANK3 | c.3894C>T (p.Asp1298=) n.4478C>T c.2946C>T (p.Asp982=) c.2436C>T (p.Asp812=) c.*2892C>T (n.*2892C>T) c.4290C>T (p.Asp1430=) c.4272C>T (p.Asp1424=) | gnomAD v4 |
| 22 | g.50722127C>A | CA515264511 | SHANK3 | c.3895C>A (p.Pro1299Thr) n.4479C>A c.2947C>A (p.Pro983Thr) c.2437C>A (p.Pro813Thr) c.*2893C>A (n.*2893C>A) c.4291C>A (p.Pro1431Thr) c.4273C>A (p.Pro1425Thr) | |
| 22 | g.50722127C= | CA2411008634 | SHANK3 | c.3895C= (p.Pro1299=) n.4479C= c.2947C= (p.Pro983=) c.2437C= (p.Pro813=) c.*2893C= (n.*2893C=) c.4291C= (p.Pro1431=) c.4273C= (p.Pro1425=) | |
| 22 | g.50722127C>G | CA515264509 | SHANK3 | c.3895C>G (p.Pro1299Ala) n.4479C>G c.2947C>G (p.Pro983Ala) c.2437C>G (p.Pro813Ala) c.*2893C>G (n.*2893C>G) c.4291C>G (p.Pro1431Ala) c.4273C>G (p.Pro1425Ala) | |
| 22 | g.50722127C>T | CA515264510 | SHANK3 | c.3895C>T (p.Pro1299Ser) n.4479C>T c.2947C>T (p.Pro983Ser) c.2437C>T (p.Pro813Ser) c.*2893C>T (n.*2893C>T) c.4291C>T (p.Pro1431Ser) c.4273C>T (p.Pro1425Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722128C>A | CA515264512 | SHANK3 | c.3896C>A (p.Pro1299Gln) n.4480C>A c.2948C>A (p.Pro983Gln) c.2438C>A (p.Pro813Gln) c.*2894C>A (n.*2894C>A) c.4292C>A (p.Pro1431Gln) c.4274C>A (p.Pro1425Gln) | |
| 22 | g.50722128C= | CA2411008635 | SHANK3 | c.3896C= (p.Pro1299=) n.4480C= c.2948C= (p.Pro983=) c.2438C= (p.Pro813=) c.*2894C= (n.*2894C=) c.4292C= (p.Pro1431=) c.4274C= (p.Pro1425=) | |
| 22 | g.50722128C>G | CA515264514 | SHANK3 | c.3896C>G (p.Pro1299Arg) n.4480C>G c.2948C>G (p.Pro983Arg) c.2438C>G (p.Pro813Arg) c.*2894C>G (n.*2894C>G) c.4292C>G (p.Pro1431Arg) c.4274C>G (p.Pro1425Arg) | gnomAD v4 |
| 22 | g.50722128C>T | CA10326240 | SHANK3 | c.3896C>T (p.Pro1299Leu) n.4480C>T c.2948C>T (p.Pro983Leu) c.2438C>T (p.Pro813Leu) c.*2894C>T (n.*2894C>T) c.4292C>T (p.Pro1431Leu) c.4274C>T (p.Pro1425Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722129G>A | CA10326241 | SHANK3 | c.3897G>A (p.Pro1299=) n.4481G>A c.2949G>A (p.Pro983=) c.2439G>A (p.Pro813=) c.*2895G>A (n.*2895G>A) c.4293G>A (p.Pro1431=) c.4275G>A (p.Pro1425=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722129G>C | CA515264515 | SHANK3 | c.3897G>C (p.Pro1299=) n.4481G>C c.2949G>C (p.Pro983=) c.2439G>C (p.Pro813=) c.*2895G>C (n.*2895G>C) c.4293G>C (p.Pro1431=) c.4275G>C (p.Pro1425=) | |
| 22 | g.50722129G= | CA2411008636 | SHANK3 | c.3897G= (p.Pro1299=) n.4481G= c.2949G= (p.Pro983=) c.2439G= (p.Pro813=) c.*2895G= (n.*2895G=) c.4293G= (p.Pro1431=) c.4275G= (p.Pro1425=) | |
| 22 | g.50722129G>T | CA515264516 | SHANK3 | c.3897G>T (p.Pro1299=) n.4481G>T c.2949G>T (p.Pro983=) c.2439G>T (p.Pro813=) c.*2895G>T (n.*2895G>T) c.4293G>T (p.Pro1431=) c.4275G>T (p.Pro1425=) | dbSNP gnomAD v2 |
| 22 | g.50722130C>A | CA515264517 | SHANK3 | c.3898C>A (p.Leu1300Met) n.4482C>A c.2950C>A (p.Leu984Met) c.2440C>A (p.Leu814Met) c.*2896C>A (n.*2896C>A) c.4294C>A (p.Leu1432Met) c.4276C>A (p.Leu1426Met) | |
| 22 | g.50722130C>G | CA515264518 | SHANK3 | c.3898C>G (p.Leu1300Val) n.4482C>G c.2950C>G (p.Leu984Val) c.2440C>G (p.Leu814Val) c.*2896C>G (n.*2896C>G) c.4294C>G (p.Leu1432Val) c.4276C>G (p.Leu1426Val) | |
| 22 | g.50722130C>T | CA515264519 | SHANK3 | c.3898C>T (p.Leu1300=) n.4482C>T c.2950C>T (p.Leu984=) c.2440C>T (p.Leu814=) c.*2896C>T (n.*2896C>T) c.4294C>T (p.Leu1432=) c.4276C>T (p.Leu1426=) | |
| 22 | g.50722131T>A | CA515264520 | SHANK3 | c.3899T>A (p.Leu1300Gln) n.4483T>A c.2951T>A (p.Leu984Gln) c.2441T>A (p.Leu814Gln) c.*2897T>A (n.*2897T>A) c.4295T>A (p.Leu1432Gln) c.4277T>A (p.Leu1426Gln) | |
| 22 | g.50722131T>C | CA515264521 | SHANK3 | c.3899T>C (p.Leu1300Pro) n.4483T>C c.2951T>C (p.Leu984Pro) c.2441T>C (p.Leu814Pro) c.*2897T>C (n.*2897T>C) c.4295T>C (p.Leu1432Pro) c.4277T>C (p.Leu1426Pro) | |
| 22 | g.50722131T>G | CA515264522 | SHANK3 | c.3899T>G (p.Leu1300Arg) n.4483T>G c.2951T>G (p.Leu984Arg) c.2441T>G (p.Leu814Arg) c.*2897T>G (n.*2897T>G) c.4295T>G (p.Leu1432Arg) c.4277T>G (p.Leu1426Arg) | |
| 22 | g.50722132G>A | CA515264525 | SHANK3 | c.3900G>A (p.Leu1300=) n.4484G>A c.2952G>A (p.Leu984=) c.2442G>A (p.Leu814=) c.*2898G>A (n.*2898G>A) c.4296G>A (p.Leu1432=) c.4278G>A (p.Leu1426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722132G>C | CA515264524 | SHANK3 | c.3900G>C (p.Leu1300=) n.4484G>C c.2952G>C (p.Leu984=) c.2442G>C (p.Leu814=) c.*2898G>C (n.*2898G>C) c.4296G>C (p.Leu1432=) c.4278G>C (p.Leu1426=) | |
| 22 | g.50722132G= | CA2411008637 | SHANK3 | c.3900G= (p.Leu1300=) n.4484G= c.2952G= (p.Leu984=) c.2442G= (p.Leu814=) c.*2898G= (n.*2898G=) c.4296G= (p.Leu1432=) c.4278G= (p.Leu1426=) | |
| 22 | g.50722132G>T | CA515264523 | SHANK3 | c.3900G>T (p.Leu1300=) n.4484G>T c.2952G>T (p.Leu984=) c.2442G>T (p.Leu814=) c.*2898G>T (n.*2898G>T) c.4296G>T (p.Leu1432=) c.4278G>T (p.Leu1426=) | |
| 22 | g.50722133C>A | CA515264527 | SHANK3 | c.3901C>A (p.Leu1301Met) n.4485C>A c.2953C>A (p.Leu985Met) c.2443C>A (p.Leu815Met) c.*2899C>A (n.*2899C>A) c.4297C>A (p.Leu1433Met) c.4279C>A (p.Leu1427Met) | |
| 22 | g.50722133C>G | CA515264529 | SHANK3 | c.3901C>G (p.Leu1301Val) n.4485C>G c.2953C>G (p.Leu985Val) c.2443C>G (p.Leu815Val) c.*2899C>G (n.*2899C>G) c.4297C>G (p.Leu1433Val) c.4279C>G (p.Leu1427Val) | |
| 22 | g.50722133C>T | CA515264531 | SHANK3 | c.3901C>T (p.Leu1301=) n.4485C>T c.2953C>T (p.Leu985=) c.2443C>T (p.Leu815=) c.*2899C>T (n.*2899C>T) c.4297C>T (p.Leu1433=) c.4279C>T (p.Leu1427=) | |
| 22 | g.50722134T>A | CA515264532 | SHANK3 | c.3902T>A (p.Leu1301Gln) n.4486T>A c.2954T>A (p.Leu985Gln) c.2444T>A (p.Leu815Gln) c.*2900T>A (n.*2900T>A) c.4298T>A (p.Leu1433Gln) c.4280T>A (p.Leu1427Gln) | |
| 22 | g.50722134T>C | CA515264533 | SHANK3 | c.3902T>C (p.Leu1301Pro) n.4486T>C c.2954T>C (p.Leu985Pro) c.2444T>C (p.Leu815Pro) c.*2900T>C (n.*2900T>C) c.4298T>C (p.Leu1433Pro) c.4280T>C (p.Leu1427Pro) | |
| 22 | g.50722134T>G | CA515264534 | SHANK3 | c.3902T>G (p.Leu1301Arg) n.4486T>G c.2954T>G (p.Leu985Arg) c.2444T>G (p.Leu815Arg) c.*2900T>G (n.*2900T>G) c.4298T>G (p.Leu1433Arg) c.4280T>G (p.Leu1427Arg) | |
| 22 | g.50722135G>A | CA10326242 | SHANK3 | c.3903G>A (p.Leu1301=) n.4487G>A c.2955G>A (p.Leu985=) c.2445G>A (p.Leu815=) c.*2901G>A (n.*2901G>A) c.4299G>A (p.Leu1433=) c.4281G>A (p.Leu1427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722135G>C | CA515264536 | SHANK3 | c.3903G>C (p.Leu1301=) n.4487G>C c.2955G>C (p.Leu985=) c.2445G>C (p.Leu815=) c.*2901G>C (n.*2901G>C) c.4299G>C (p.Leu1433=) c.4281G>C (p.Leu1427=) | |
| 22 | g.50722135G= | CA2411008638 | SHANK3 | c.3903G= (p.Leu1301=) n.4487G= c.2955G= (p.Leu985=) c.2445G= (p.Leu815=) c.*2901G= (n.*2901G=) c.4299G= (p.Leu1433=) c.4281G= (p.Leu1427=) | |
| 22 | g.50722135G>T | CA515264535 | SHANK3 | c.3903G>T (p.Leu1301=) n.4487G>T c.2955G>T (p.Leu985=) c.2445G>T (p.Leu815=) c.*2901G>T (n.*2901G>T) c.4299G>T (p.Leu1433=) c.4281G>T (p.Leu1427=) | |
| 22 | g.50722136A>C | CA515264537 | SHANK3 | c.3904A>C (p.Lys1302Gln) n.4488A>C c.2956A>C (p.Lys986Gln) c.2446A>C (p.Lys816Gln) c.*2902A>C (n.*2902A>C) c.4300A>C (p.Lys1434Gln) c.4282A>C (p.Lys1428Gln) | |
| 22 | g.50722136A>G | CA515264539 | SHANK3 | c.3904A>G (p.Lys1302Glu) n.4488A>G c.2956A>G (p.Lys986Glu) c.2446A>G (p.Lys816Glu) c.*2902A>G (n.*2902A>G) c.4300A>G (p.Lys1434Glu) c.4282A>G (p.Lys1428Glu) | |
| 22 | g.50722136A>T | CA515264541 | SHANK3 | c.3904A>T (p.Lys1302Ter) n.4488A>T c.2956A>T (p.Lys986Ter) c.2446A>T (p.Lys816Ter) c.*2902A>T (n.*2902A>T) c.4300A>T (p.Lys1434Ter) c.4282A>T (p.Lys1428Ter) | |
| 22 | g.50722137A>C | CA515264543 | SHANK3 | c.3905A>C (p.Lys1302Thr) n.4489A>C c.2957A>C (p.Lys986Thr) c.2447A>C (p.Lys816Thr) c.*2903A>C (n.*2903A>C) c.4301A>C (p.Lys1434Thr) c.4283A>C (p.Lys1428Thr) | |
| 22 | g.50722137A>G | CA515264544 | SHANK3 | c.3905A>G (p.Lys1302Arg) n.4489A>G c.2957A>G (p.Lys986Arg) c.2447A>G (p.Lys816Arg) c.*2903A>G (n.*2903A>G) c.4301A>G (p.Lys1434Arg) c.4283A>G (p.Lys1428Arg) | |
| 22 | g.50722137A>T | CA515264545 | SHANK3 | c.3905A>T (p.Lys1302Met) n.4489A>T c.2957A>T (p.Lys986Met) c.2447A>T (p.Lys816Met) c.*2903A>T (n.*2903A>T) c.4301A>T (p.Lys1434Met) c.4283A>T (p.Lys1428Met) | |
| 22 | g.50722138G>A | CA515264546 | SHANK3 | c.3906G>A (p.Lys1302=) n.4490G>A c.2958G>A (p.Lys986=) c.2448G>A (p.Lys816=) c.*2904G>A (n.*2904G>A) c.4302G>A (p.Lys1434=) c.4284G>A (p.Lys1428=) | |
| 22 | g.50722138G>C | CA515264548 | SHANK3 | c.3906G>C (p.Lys1302Asn) n.4490G>C c.2958G>C (p.Lys986Asn) c.2448G>C (p.Lys816Asn) c.*2904G>C (n.*2904G>C) c.4302G>C (p.Lys1434Asn) c.4284G>C (p.Lys1428Asn) | |
| 22 | g.50722138G>T | CA515264547 | SHANK3 | c.3906G>T (p.Lys1302Asn) n.4490G>T c.2958G>T (p.Lys986Asn) c.2448G>T (p.Lys816Asn) c.*2904G>T (n.*2904G>T) c.4302G>T (p.Lys1434Asn) c.4284G>T (p.Lys1428Asn) | |
| 22 | g.50722139C>A | CA515264550 | SHANK3 | c.3907C>A (p.Gln1303Lys) n.4491C>A c.2959C>A (p.Gln987Lys) c.2449C>A (p.Gln817Lys) c.*2905C>A (n.*2905C>A) c.4303C>A (p.Gln1435Lys) c.4285C>A (p.Gln1429Lys) | |
| 22 | g.50722139C>G | CA515264551 | SHANK3 | c.3907C>G (p.Gln1303Glu) n.4491C>G c.2959C>G (p.Gln987Glu) c.2449C>G (p.Gln817Glu) c.*2905C>G (n.*2905C>G) c.4303C>G (p.Gln1435Glu) c.4285C>G (p.Gln1429Glu) | |
| 22 | g.50722139C>T | CA515264552 | SHANK3 | c.3907C>T (p.Gln1303Ter) n.4491C>T c.2959C>T (p.Gln987Ter) c.2449C>T (p.Gln817Ter) c.*2905C>T (n.*2905C>T) c.4303C>T (p.Gln1435Ter) c.4285C>T (p.Gln1429Ter) | |
| 22 | g.50722140A>C | CA515264553 | SHANK3 | c.3908A>C (p.Gln1303Pro) n.4492A>C c.2960A>C (p.Gln987Pro) c.2450A>C (p.Gln817Pro) c.*2906A>C (n.*2906A>C) c.4304A>C (p.Gln1435Pro) c.4286A>C (p.Gln1429Pro) | |
| 22 | g.50722140A>G | CA515264554 | SHANK3 | c.3908A>G (p.Gln1303Arg) n.4492A>G c.2960A>G (p.Gln987Arg) c.2450A>G (p.Gln817Arg) c.*2906A>G (n.*2906A>G) c.4304A>G (p.Gln1435Arg) c.4286A>G (p.Gln1429Arg) | |
| 22 | g.50722140A>T | CA515264556 | SHANK3 | c.3908A>T (p.Gln1303Leu) n.4492A>T c.2960A>T (p.Gln987Leu) c.2450A>T (p.Gln817Leu) c.*2906A>T (n.*2906A>T) c.4304A>T (p.Gln1435Leu) c.4286A>T (p.Gln1429Leu) | |
| 22 | g.50722141G>A | CA515264557 | SHANK3 | c.3909G>A (p.Gln1303=) n.4493G>A c.2961G>A (p.Gln987=) c.2451G>A (p.Gln817=) c.*2907G>A (n.*2907G>A) c.4305G>A (p.Gln1435=) c.4287G>A (p.Gln1429=) | gnomAD v4 |
| 22 | g.50722141G>C | CA515264558 | SHANK3 | c.3909G>C (p.Gln1303His) n.4493G>C c.2961G>C (p.Gln987His) c.2451G>C (p.Gln817His) c.*2907G>C (n.*2907G>C) c.4305G>C (p.Gln1435His) c.4287G>C (p.Gln1429His) | |
| 22 | g.50722141G>T | CA515264559 | SHANK3 | c.3909G>T (p.Gln1303His) n.4493G>T c.2961G>T (p.Gln987His) c.2451G>T (p.Gln817His) c.*2907G>T (n.*2907G>T) c.4305G>T (p.Gln1435His) c.4287G>T (p.Gln1429His) | |
| 22 | g.50722142T>A | CA515264560 | SHANK3 | c.3910T>A (p.Ser1304Thr) n.4494T>A c.2962T>A (p.Ser988Thr) c.2452T>A (p.Ser818Thr) c.*2908T>A (n.*2908T>A) c.4306T>A (p.Ser1436Thr) c.4288T>A (p.Ser1430Thr) | |
| 22 | g.50722142T>C | CA515264561 | SHANK3 | c.3910T>C (p.Ser1304Pro) n.4494T>C c.2962T>C (p.Ser988Pro) c.2452T>C (p.Ser818Pro) c.*2908T>C (n.*2908T>C) c.4306T>C (p.Ser1436Pro) c.4288T>C (p.Ser1430Pro) | gnomAD v4 |
| 22 | g.50722142T>G | CA515264562 | SHANK3 | c.3910T>G (p.Ser1304Ala) n.4494T>G c.2962T>G (p.Ser988Ala) c.2452T>G (p.Ser818Ala) c.*2908T>G (n.*2908T>G) c.4306T>G (p.Ser1436Ala) c.4288T>G (p.Ser1430Ala) | |
| 22 | g.50722143C>A | CA515264563 | SHANK3 | c.3911C>A (p.Ser1304Tyr) n.4495C>A c.2963C>A (p.Ser988Tyr) c.2453C>A (p.Ser818Tyr) c.*2909C>A (n.*2909C>A) c.4307C>A (p.Ser1436Tyr) c.4289C>A (p.Ser1430Tyr) | gnomAD v4 |
| 22 | g.50722143C= | CA2411008639 | SHANK3 | c.3911C= (p.Ser1304=) n.4495C= c.2963C= (p.Ser988=) c.2453C= (p.Ser818=) c.*2909C= (n.*2909C=) c.4307C= (p.Ser1436=) c.4289C= (p.Ser1430=) | |
| 22 | g.50722143C>G | CA515264565 | SHANK3 | c.3911C>G (p.Ser1304Cys) n.4495C>G c.2963C>G (p.Ser988Cys) c.2453C>G (p.Ser818Cys) c.*2909C>G (n.*2909C>G) c.4307C>G (p.Ser1436Cys) c.4289C>G (p.Ser1430Cys) | |
| 22 | g.50722143C>T | CA325580068 | SHANK3 | c.3911C>T (p.Ser1304Phe) n.4495C>T c.2963C>T (p.Ser988Phe) c.2453C>T (p.Ser818Phe) c.*2909C>T (n.*2909C>T) c.4307C>T (p.Ser1436Phe) c.4289C>T (p.Ser1430Phe) | dbSNP gnomAD v4 |
| 22 | g.50722144C>A | CA515264567 | SHANK3 | c.3912C>A (p.Ser1304=) n.4496C>A c.2964C>A (p.Ser988=) c.2454C>A (p.Ser818=) c.*2910C>A (n.*2910C>A) c.4308C>A (p.Ser1436=) c.4290C>A (p.Ser1430=) | |
| 22 | g.50722144C= | CA2411008640 | SHANK3 | c.3912C= (p.Ser1304=) n.4496C= c.2964C= (p.Ser988=) c.2454C= (p.Ser818=) c.*2910C= (n.*2910C=) c.4308C= (p.Ser1436=) c.4290C= (p.Ser1430=) | |
| 22 | g.50722144C>G | CA515264569 | SHANK3 | c.3912C>G (p.Ser1304=) n.4496C>G c.2964C>G (p.Ser988=) c.2454C>G (p.Ser818=) c.*2910C>G (n.*2910C>G) c.4308C>G (p.Ser1436=) c.4290C>G (p.Ser1430=) | dbSNP |
| 22 | g.50722144C>T | CA515264570 | SHANK3 | c.3912C>T (p.Ser1304=) n.4496C>T c.2964C>T (p.Ser988=) c.2454C>T (p.Ser818=) c.*2910C>T (n.*2910C>T) c.4308C>T (p.Ser1436=) c.4290C>T (p.Ser1430=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722145T>A | CA515264571 | SHANK3 | c.3913T>A (p.Ser1305Thr) n.4497T>A c.2965T>A (p.Ser989Thr) c.2455T>A (p.Ser819Thr) c.*2911T>A (n.*2911T>A) c.4309T>A (p.Ser1437Thr) c.4291T>A (p.Ser1431Thr) | |
| 22 | g.50722145T>C | CA515264572 | SHANK3 | c.3913T>C (p.Ser1305Pro) n.4497T>C c.2965T>C (p.Ser989Pro) c.2455T>C (p.Ser819Pro) c.*2911T>C (n.*2911T>C) c.4309T>C (p.Ser1437Pro) c.4291T>C (p.Ser1431Pro) | |
| 22 | g.50722145T>G | CA515264573 | SHANK3 | c.3913T>G (p.Ser1305Ala) n.4497T>G c.2965T>G (p.Ser989Ala) c.2455T>G (p.Ser819Ala) c.*2911T>G (n.*2911T>G) c.4309T>G (p.Ser1437Ala) c.4291T>G (p.Ser1431Ala) | |
| 22 | g.50722146C>A | CA515264575 | SHANK3 | c.3914C>A (p.Ser1305Ter) n.4498C>A c.2966C>A (p.Ser989Ter) c.2456C>A (p.Ser819Ter) c.*2912C>A (n.*2912C>A) c.4310C>A (p.Ser1437Ter) c.4292C>A (p.Ser1431Ter) | |
| 22 | g.50722146C= | CA2411008641 | SHANK3 | c.3914C= (p.Ser1305=) n.4498C= c.2966C= (p.Ser989=) c.2456C= (p.Ser819=) c.*2912C= (n.*2912C=) c.4310C= (p.Ser1437=) c.4292C= (p.Ser1431=) | |
| 22 | g.50722146C>G | CA515264576 | SHANK3 | c.3914C>G (p.Ser1305Trp) n.4498C>G c.2966C>G (p.Ser989Trp) c.2456C>G (p.Ser819Trp) c.*2912C>G (n.*2912C>G) c.4310C>G (p.Ser1437Trp) c.4292C>G (p.Ser1431Trp) | gnomAD v4 |
| 22 | g.50722146C>T | CA10326243 | SHANK3 | c.3914C>T (p.Ser1305Leu) n.4498C>T c.2966C>T (p.Ser989Leu) c.2456C>T (p.Ser819Leu) c.*2912C>T (n.*2912C>T) c.4310C>T (p.Ser1437Leu) c.4292C>T (p.Ser1431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722147G>A | CA10326244 | SHANK3 | c.3915G>A (p.Ser1305=) n.4499G>A c.2967G>A (p.Ser989=) c.2457G>A (p.Ser819=) c.*2913G>A (n.*2913G>A) c.4311G>A (p.Ser1437=) c.4293G>A (p.Ser1431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722147G>C | CA515264578 | SHANK3 | c.3915G>C (p.Ser1305=) n.4499G>C c.2967G>C (p.Ser989=) c.2457G>C (p.Ser819=) c.*2913G>C (n.*2913G>C) c.4311G>C (p.Ser1437=) c.4293G>C (p.Ser1431=) | gnomAD v4 |
| 22 | g.50722147G= | CA2411008642 | SHANK3 | c.3915G= (p.Ser1305=) n.4499G= c.2967G= (p.Ser989=) c.2457G= (p.Ser819=) c.*2913G= (n.*2913G=) c.4311G= (p.Ser1437=) c.4293G= (p.Ser1431=) | |
| 22 | g.50722147G>T | CA515264579 | SHANK3 | c.3915G>T (p.Ser1305=) n.4499G>T c.2967G>T (p.Ser989=) c.2457G>T (p.Ser819=) c.*2913G>T (n.*2913G>T) c.4311G>T (p.Ser1437=) c.4293G>T (p.Ser1431=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722148G>A | CA515264583 | SHANK3 | c.3916G>A (p.Asp1306Asn) n.4500G>A c.2968G>A (p.Asp990Asn) c.2458G>A (p.Asp820Asn) c.*2914G>A (n.*2914G>A) c.4312G>A (p.Asp1438Asn) c.4294G>A (p.Asp1432Asn) | |
| 22 | g.50722148G>C | CA515264581 | SHANK3 | c.3916G>C (p.Asp1306His) n.4500G>C c.2968G>C (p.Asp990His) c.2458G>C (p.Asp820His) c.*2914G>C (n.*2914G>C) c.4312G>C (p.Asp1438His) c.4294G>C (p.Asp1432His) | |
| 22 | g.50722148G>T | CA515264582 | SHANK3 | c.3916G>T (p.Asp1306Tyr) n.4500G>T c.2968G>T (p.Asp990Tyr) c.2458G>T (p.Asp820Tyr) c.*2914G>T (n.*2914G>T) c.4312G>T (p.Asp1438Tyr) c.4294G>T (p.Asp1432Tyr) | |
| 22 | g.50722149A>C | CA515264584 | SHANK3 | c.3917A>C (p.Asp1306Ala) n.4501A>C c.2969A>C (p.Asp990Ala) c.2459A>C (p.Asp820Ala) c.*2915A>C (n.*2915A>C) c.4313A>C (p.Asp1438Ala) c.4295A>C (p.Asp1432Ala) | |
| 22 | g.50722149A>G | CA515264585 | SHANK3 | c.3917A>G (p.Asp1306Gly) n.4501A>G c.2969A>G (p.Asp990Gly) c.2459A>G (p.Asp820Gly) c.*2915A>G (n.*2915A>G) c.4313A>G (p.Asp1438Gly) c.4295A>G (p.Asp1432Gly) | |
| 22 | g.50722149A>T | CA515264586 | SHANK3 | c.3917A>T (p.Asp1306Val) n.4501A>T c.2969A>T (p.Asp990Val) c.2459A>T (p.Asp820Val) c.*2915A>T (n.*2915A>T) c.4313A>T (p.Asp1438Val) c.4295A>T (p.Asp1432Val) |