| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 22 | g.50722150C>A | CA515264587 | SHANK3 | c.3918C>A (p.Asp1306Glu) n.4502C>A c.2970C>A (p.Asp990Glu) c.2460C>A (p.Asp820Glu) c.*2916C>A (n.*2916C>A) c.4314C>A (p.Asp1438Glu) c.4296C>A (p.Asp1432Glu) | |
| 22 | g.50722150C= | CA2411008643 | SHANK3 | c.3918C= (p.Asp1306=) n.4502C= c.2970C= (p.Asp990=) c.2460C= (p.Asp820=) c.*2916C= (n.*2916C=) c.4314C= (p.Asp1438=) c.4296C= (p.Asp1432=) | |
| 22 | g.50722150C>G | CA515264588 | SHANK3 | c.3918C>G (p.Asp1306Glu) n.4502C>G c.2970C>G (p.Asp990Glu) c.2460C>G (p.Asp820Glu) c.*2916C>G (n.*2916C>G) c.4314C>G (p.Asp1438Glu) c.4296C>G (p.Asp1432Glu) | |
| 22 | g.50722150C>T | CA10326245 | SHANK3 | c.3918C>T (p.Asp1306=) n.4502C>T c.2970C>T (p.Asp990=) c.2460C>T (p.Asp820=) c.*2916C>T (n.*2916C>T) c.4314C>T (p.Asp1438=) c.4296C>T (p.Asp1432=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722151A= | CA2411008644 | SHANK3 | c.3919A= (p.Ser1307=) n.4503A= c.2971A= (p.Ser991=) c.2461A= (p.Ser821=) c.*2917A= (n.*2917A=) c.4315A= (p.Ser1439=) c.4297A= (p.Ser1433=) | |
| 22 | g.50722151A>C | CA515264589 | SHANK3 | c.3919A>C (p.Ser1307Arg) n.4503A>C c.2971A>C (p.Ser991Arg) c.2461A>C (p.Ser821Arg) c.*2917A>C (n.*2917A>C) c.4315A>C (p.Ser1439Arg) c.4297A>C (p.Ser1433Arg) | |
| 22 | g.50722151A>G | CA10326246 | SHANK3 | c.3919A>G (p.Ser1307Gly) n.4503A>G c.2971A>G (p.Ser991Gly) c.2461A>G (p.Ser821Gly) c.*2917A>G (n.*2917A>G) c.4315A>G (p.Ser1439Gly) c.4297A>G (p.Ser1433Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722151A>T | CA515264591 | SHANK3 | c.3919A>T (p.Ser1307Cys) n.4503A>T c.2971A>T (p.Ser991Cys) c.2461A>T (p.Ser821Cys) c.*2917A>T (n.*2917A>T) c.4315A>T (p.Ser1439Cys) c.4297A>T (p.Ser1433Cys) | |
| 22 | g.50722152G>A | CA10326247 | SHANK3 | c.3920G>A (p.Ser1307Asn) n.4504G>A c.2972G>A (p.Ser991Asn) c.2462G>A (p.Ser821Asn) c.*2918G>A (n.*2918G>A) c.4316G>A (p.Ser1439Asn) c.4298G>A (p.Ser1433Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722152G>C | CA10326248 | SHANK3 | c.3920G>C (p.Ser1307Thr) n.4504G>C c.2972G>C (p.Ser991Thr) c.2462G>C (p.Ser821Thr) c.*2918G>C (n.*2918G>C) c.4316G>C (p.Ser1439Thr) c.4298G>C (p.Ser1433Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722152G= | CA2411008645 | SHANK3 | c.3920G= (p.Ser1307=) n.4504G= c.2972G= (p.Ser991=) c.2462G= (p.Ser821=) c.*2918G= (n.*2918G=) c.4316G= (p.Ser1439=) c.4298G= (p.Ser1433=) | |
| 22 | g.50722152G>T | CA515264592 | SHANK3 | c.3920G>T (p.Ser1307Ile) n.4504G>T c.2972G>T (p.Ser991Ile) c.2462G>T (p.Ser821Ile) c.*2918G>T (n.*2918G>T) c.4316G>T (p.Ser1439Ile) c.4298G>T (p.Ser1433Ile) | |
| 22 | g.50722153C>A | CA515264593 | SHANK3 | c.3921C>A (p.Ser1307Arg) n.4505C>A c.2973C>A (p.Ser991Arg) c.2463C>A (p.Ser821Arg) c.*2919C>A (n.*2919C>A) c.4317C>A (p.Ser1439Arg) c.4299C>A (p.Ser1433Arg) | gnomAD v4 |
| 22 | g.50722153C= | CA2411008646 | SHANK3 | c.3921C= (p.Ser1307=) n.4505C= c.2973C= (p.Ser991=) c.2463C= (p.Ser821=) c.*2919C= (n.*2919C=) c.4317C= (p.Ser1439=) c.4299C= (p.Ser1433=) | |
| 22 | g.50722153C>G | CA515264594 | SHANK3 | c.3921C>G (p.Ser1307Arg) n.4505C>G c.2973C>G (p.Ser991Arg) c.2463C>G (p.Ser821Arg) c.*2919C>G (n.*2919C>G) c.4317C>G (p.Ser1439Arg) c.4299C>G (p.Ser1433Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722153C>T | CA10326249 | SHANK3 | c.3921C>T (p.Ser1307=) n.4505C>T c.2973C>T (p.Ser991=) c.2463C>T (p.Ser821=) c.*2919C>T (n.*2919C>T) c.4317C>T (p.Ser1439=) c.4299C>T (p.Ser1433=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722154G>A | CA10326250 | SHANK3 | c.3922G>A (p.Glu1308Lys) n.4506G>A c.2974G>A (p.Glu992Lys) c.2464G>A (p.Glu822Lys) c.*2920G>A (n.*2920G>A) c.4318G>A (p.Glu1440Lys) c.4300G>A (p.Glu1434Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722154G>C | CA515264597 | SHANK3 | c.3922G>C (p.Glu1308Gln) n.4506G>C c.2974G>C (p.Glu992Gln) c.2464G>C (p.Glu822Gln) c.*2920G>C (n.*2920G>C) c.4318G>C (p.Glu1440Gln) c.4300G>C (p.Glu1434Gln) | |
| 22 | g.50722154G= | CA2411008647 | SHANK3 | c.3922G= (p.Glu1308=) n.4506G= c.2974G= (p.Glu992=) c.2464G= (p.Glu822=) c.*2920G= (n.*2920G=) c.4318G= (p.Glu1440=) c.4300G= (p.Glu1434=) | |
| 22 | g.50722154G>T | CA515264596 | SHANK3 | c.3922G>T (p.Glu1308Ter) n.4506G>T c.2974G>T (p.Glu992Ter) c.2464G>T (p.Glu822Ter) c.*2920G>T (n.*2920G>T) c.4318G>T (p.Glu1440Ter) c.4300G>T (p.Glu1434Ter) | |
| 22 | g.50722155A>C | CA515264598 | SHANK3 | c.3923A>C (p.Glu1308Ala) n.4507A>C c.2975A>C (p.Glu992Ala) c.2465A>C (p.Glu822Ala) c.*2921A>C (n.*2921A>C) c.4319A>C (p.Glu1440Ala) c.4301A>C (p.Glu1434Ala) | |
| 22 | g.50722155A>G | CA515264600 | SHANK3 | c.3923A>G (p.Glu1308Gly) n.4507A>G c.2975A>G (p.Glu992Gly) c.2465A>G (p.Glu822Gly) c.*2921A>G (n.*2921A>G) c.4319A>G (p.Glu1440Gly) c.4301A>G (p.Glu1434Gly) | |
| 22 | g.50722155A>T | CA515264599 | SHANK3 | c.3923A>T (p.Glu1308Val) n.4507A>T c.2975A>T (p.Glu992Val) c.2465A>T (p.Glu822Val) c.*2921A>T (n.*2921A>T) c.4319A>T (p.Glu1440Val) c.4301A>T (p.Glu1434Val) | |
| 22 | g.50722156G>A | CA10326251 | SHANK3 | c.3924G>A (p.Glu1308=) n.4508G>A c.2976G>A (p.Glu992=) c.2466G>A (p.Glu822=) c.*2922G>A (n.*2922G>A) c.4320G>A (p.Glu1440=) c.4302G>A (p.Glu1434=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722156G>C | CA515264603 | SHANK3 | c.3924G>C (p.Glu1308Asp) n.4508G>C c.2976G>C (p.Glu992Asp) c.2466G>C (p.Glu822Asp) c.*2922G>C (n.*2922G>C) c.4320G>C (p.Glu1440Asp) c.4302G>C (p.Glu1434Asp) | |
| 22 | g.50722156G= | CA2411008648 | SHANK3 | c.3924G= (p.Glu1308=) n.4508G= c.2976G= (p.Glu992=) c.2466G= (p.Glu822=) c.*2922G= (n.*2922G=) c.4320G= (p.Glu1440=) c.4302G= (p.Glu1434=) | |
| 22 | g.50722156G>T | CA515264601 | SHANK3 | c.3924G>T (p.Glu1308Asp) n.4508G>T c.2976G>T (p.Glu992Asp) c.2466G>T (p.Glu822Asp) c.*2922G>T (n.*2922G>T) c.4320G>T (p.Glu1440Asp) c.4302G>T (p.Glu1434Asp) | gnomAD v4 |
| 22 | g.50722157C>A | CA515264605 | SHANK3 | c.3925C>A (p.Leu1309Ile) n.4509C>A c.2977C>A (p.Leu993Ile) c.2467C>A (p.Leu823Ile) c.*2923C>A (n.*2923C>A) c.4321C>A (p.Leu1441Ile) c.4303C>A (p.Leu1435Ile) | |
| 22 | g.50722157C>G | CA515264608 | SHANK3 | c.3925C>G (p.Leu1309Val) n.4509C>G c.2977C>G (p.Leu993Val) c.2467C>G (p.Leu823Val) c.*2923C>G (n.*2923C>G) c.4321C>G (p.Leu1441Val) c.4303C>G (p.Leu1435Val) | |
| 22 | g.50722157C>T | CA515264607 | SHANK3 | c.3925C>T (p.Leu1309Phe) n.4509C>T c.2977C>T (p.Leu993Phe) c.2467C>T (p.Leu823Phe) c.*2923C>T (n.*2923C>T) c.4321C>T (p.Leu1441Phe) c.4303C>T (p.Leu1435Phe) | |
| 22 | g.50722158T>A | CA515264609 | SHANK3 | c.3926T>A (p.Leu1309His) n.4510T>A c.2978T>A (p.Leu993His) c.2468T>A (p.Leu823His) c.*2924T>A (n.*2924T>A) c.4322T>A (p.Leu1441His) c.4304T>A (p.Leu1435His) | dbSNP gnomAD v2 |
| 22 | g.50722158T>C | CA515264611 | SHANK3 | c.3926T>C (p.Leu1309Pro) n.4510T>C c.2978T>C (p.Leu993Pro) c.2468T>C (p.Leu823Pro) c.*2924T>C (n.*2924T>C) c.4322T>C (p.Leu1441Pro) c.4304T>C (p.Leu1435Pro) | |
| 22 | g.50722158T>G | CA515264610 | SHANK3 | c.3926T>G (p.Leu1309Arg) n.4510T>G c.2978T>G (p.Leu993Arg) c.2468T>G (p.Leu823Arg) c.*2924T>G (n.*2924T>G) c.4322T>G (p.Leu1441Arg) c.4304T>G (p.Leu1435Arg) | |
| 22 | g.50722158T= | CA2411008649 | SHANK3 | c.3926T= (p.Leu1309=) n.4510T= c.2978T= (p.Leu993=) c.2468T= (p.Leu823=) c.*2924T= (n.*2924T=) c.4322T= (p.Leu1441=) c.4304T= (p.Leu1435=) | |
| 22 | g.50722159C>A | CA515264612 | SHANK3 | c.3927C>A (p.Leu1309=) n.4511C>A c.2979C>A (p.Leu993=) c.2469C>A (p.Leu823=) c.*2925C>A (n.*2925C>A) c.4323C>A (p.Leu1441=) c.4305C>A (p.Leu1435=) | |
| 22 | g.50722159C= | CA2411008650 | SHANK3 | c.3927C= (p.Leu1309=) n.4511C= c.2979C= (p.Leu993=) c.2469C= (p.Leu823=) c.*2925C= (n.*2925C=) c.4323C= (p.Leu1441=) c.4305C= (p.Leu1435=) | |
| 22 | g.50722159C>G | CA515264613 | SHANK3 | c.3927C>G (p.Leu1309=) n.4511C>G c.2979C>G (p.Leu993=) c.2469C>G (p.Leu823=) c.*2925C>G (n.*2925C>G) c.4323C>G (p.Leu1441=) c.4305C>G (p.Leu1435=) | |
| 22 | g.50722159C>T | CA10326252 | SHANK3 | c.3927C>T (p.Leu1309=) n.4511C>T c.2979C>T (p.Leu993=) c.2469C>T (p.Leu823=) c.*2925C>T (n.*2925C>T) c.4323C>T (p.Leu1441=) c.4305C>T (p.Leu1435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722160A= | CA2411008651 | SHANK3 | c.3928A= (p.Met1310=) n.4512A= c.2980A= (p.Met994=) c.2470A= (p.Met824=) c.*2926A= (n.*2926A=) c.4324A= (p.Met1442=) c.4306A= (p.Met1436=) | |
| 22 | g.50722160A>C | CA515264614 | SHANK3 | c.3928A>C (p.Met1310Leu) n.4512A>C c.2980A>C (p.Met994Leu) c.2470A>C (p.Met824Leu) c.*2926A>C (n.*2926A>C) c.4324A>C (p.Met1442Leu) c.4306A>C (p.Met1436Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722160A>G | CA10326253 | SHANK3 | c.3928A>G (p.Met1310Val) n.4512A>G c.2980A>G (p.Met994Val) c.2470A>G (p.Met824Val) c.*2926A>G (n.*2926A>G) c.4324A>G (p.Met1442Val) c.4306A>G (p.Met1436Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722160A>T | CA515264615 | SHANK3 | c.3928A>T (p.Met1310Leu) n.4512A>T c.2980A>T (p.Met994Leu) c.2470A>T (p.Met824Leu) c.*2926A>T (n.*2926A>T) c.4324A>T (p.Met1442Leu) c.4306A>T (p.Met1436Leu) | dbSNP gnomAD v4 |
| 22 | g.50722161T>A | CA515264616 | SHANK3 | c.3929T>A (p.Met1310Lys) n.4513T>A c.2981T>A (p.Met994Lys) c.2471T>A (p.Met824Lys) c.*2927T>A (n.*2927T>A) c.4325T>A (p.Met1442Lys) c.4307T>A (p.Met1436Lys) | |
| 22 | g.50722161T>C | CA10326254 | SHANK3 | c.3929T>C (p.Met1310Thr) n.4513T>C c.2981T>C (p.Met994Thr) c.2471T>C (p.Met824Thr) c.*2927T>C (n.*2927T>C) c.4325T>C (p.Met1442Thr) c.4307T>C (p.Met1436Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722161T>G | CA515264617 | SHANK3 | c.3929T>G (p.Met1310Arg) n.4513T>G c.2981T>G (p.Met994Arg) c.2471T>G (p.Met824Arg) c.*2927T>G (n.*2927T>G) c.4325T>G (p.Met1442Arg) c.4307T>G (p.Met1436Arg) | |
| 22 | g.50722161T= | CA2411008652 | SHANK3 | c.3929T= (p.Met1310=) n.4513T= c.2981T= (p.Met994=) c.2471T= (p.Met824=) c.*2927T= (n.*2927T=) c.4325T= (p.Met1442=) c.4307T= (p.Met1436=) | |
| 22 | g.50722162G>A | CA10326255 | SHANK3 | c.3930G>A (p.Met1310Ile) n.4514G>A c.2982G>A (p.Met994Ile) c.2472G>A (p.Met824Ile) c.*2928G>A (n.*2928G>A) c.4326G>A (p.Met1442Ile) c.4308G>A (p.Met1436Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722162G>C | CA515264618 | SHANK3 | c.3930G>C (p.Met1310Ile) n.4514G>C c.2982G>C (p.Met994Ile) c.2472G>C (p.Met824Ile) c.*2928G>C (n.*2928G>C) c.4326G>C (p.Met1442Ile) c.4308G>C (p.Met1436Ile) | |
| 22 | g.50722162G= | CA2411008653 | SHANK3 | c.3930G= (p.Met1310=) n.4514G= c.2982G= (p.Met994=) c.2472G= (p.Met824=) c.*2928G= (n.*2928G=) c.4326G= (p.Met1442=) c.4308G= (p.Met1436=) | |
| 22 | g.50722162G>T | CA515264619 | SHANK3 | c.3930G>T (p.Met1310Ile) n.4514G>T c.2982G>T (p.Met994Ile) c.2472G>T (p.Met824Ile) c.*2928G>T (n.*2928G>T) c.4326G>T (p.Met1442Ile) c.4308G>T (p.Met1436Ile) | |
| 22 | g.50722163G>A | CA515264623 | SHANK3 | c.3931G>A (p.Ala1311Thr) n.4515G>A c.2983G>A (p.Ala995Thr) c.2473G>A (p.Ala825Thr) c.*2929G>A (n.*2929G>A) c.4327G>A (p.Ala1443Thr) c.4309G>A (p.Ala1437Thr) | |
| 22 | g.50722163G>C | CA515264621 | SHANK3 | c.3931G>C (p.Ala1311Pro) n.4515G>C c.2983G>C (p.Ala995Pro) c.2473G>C (p.Ala825Pro) c.*2929G>C (n.*2929G>C) c.4327G>C (p.Ala1443Pro) c.4309G>C (p.Ala1437Pro) | |
| 22 | g.50722163G= | CA2411008654 | SHANK3 | c.3931G= (p.Ala1311=) n.4515G= c.2983G= (p.Ala995=) c.2473G= (p.Ala825=) c.*2929G= (n.*2929G=) c.4327G= (p.Ala1443=) c.4309G= (p.Ala1437=) | |
| 22 | g.50722163G>T | CA515264620 | SHANK3 | c.3931G>T (p.Ala1311Ser) n.4515G>T c.2983G>T (p.Ala995Ser) c.2473G>T (p.Ala825Ser) c.*2929G>T (n.*2929G>T) c.4327G>T (p.Ala1443Ser) c.4309G>T (p.Ala1437Ser) | |
| 22 | g.50722164C>A | CA515264625 | SHANK3 | c.3932C>A (p.Ala1311Asp) n.4516C>A c.2984C>A (p.Ala995Asp) c.2474C>A (p.Ala825Asp) c.*2930C>A (n.*2930C>A) c.4328C>A (p.Ala1443Asp) c.4310C>A (p.Ala1437Asp) | |
| 22 | g.50722164C= | CA2411008655 | SHANK3 | c.3932C= (p.Ala1311=) n.4516C= c.2984C= (p.Ala995=) c.2474C= (p.Ala825=) c.*2930C= (n.*2930C=) c.4328C= (p.Ala1443=) c.4310C= (p.Ala1437=) | |
| 22 | g.50722164C>G | CA10326256 | SHANK3 | c.3932C>G (p.Ala1311Gly) n.4516C>G c.2984C>G (p.Ala995Gly) c.2474C>G (p.Ala825Gly) c.*2930C>G (n.*2930C>G) c.4328C>G (p.Ala1443Gly) c.4310C>G (p.Ala1437Gly) | dbSNP ExAC gnomAD v2 |
| 22 | g.50722164C>T | CA515264627 | SHANK3 | c.3932C>T (p.Ala1311Val) n.4516C>T c.2984C>T (p.Ala995Val) c.2474C>T (p.Ala825Val) c.*2930C>T (n.*2930C>T) c.4328C>T (p.Ala1443Val) c.4310C>T (p.Ala1437Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722164_50722167dup | CA1139667211 | SHANK3 | c.3932_3935dup (p.Gln1312HisfsTer?) n.4516_4519dup c.2984_2987dup (p.Gln996HisfsTer?) c.2474_2477dup (p.Gln826HisfsTer?) c.*2930_*2933dup (n.*2930_*2933dup) c.4328_4331dup (p.Gln1444HisfsTer?) c.4310_4313dup (p.Gln1438HisfsTer?) | ClinVar dbSNP |
| 22 | g.50722165C>A | CA515264628 | SHANK3 | c.3933C>A (p.Ala1311=) n.4517C>A c.2985C>A (p.Ala995=) c.2475C>A (p.Ala825=) c.*2931C>A (n.*2931C>A) c.4329C>A (p.Ala1443=) c.4311C>A (p.Ala1437=) | |
| 22 | g.50722165C= | CA2411008656 | SHANK3 | c.3933C= (p.Ala1311=) n.4517C= c.2985C= (p.Ala995=) c.2475C= (p.Ala825=) c.*2931C= (n.*2931C=) c.4329C= (p.Ala1443=) c.4311C= (p.Ala1437=) | |
| 22 | g.50722165C>G | CA10326257 | SHANK3 | c.3933C>G (p.Ala1311=) n.4517C>G c.2985C>G (p.Ala995=) c.2475C>G (p.Ala825=) c.*2931C>G (n.*2931C>G) c.4329C>G (p.Ala1443=) c.4311C>G (p.Ala1437=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722165C>T | CA515264629 | SHANK3 | c.3933C>T (p.Ala1311=) n.4517C>T c.2985C>T (p.Ala995=) c.2475C>T (p.Ala825=) c.*2931C>T (n.*2931C>T) c.4329C>T (p.Ala1443=) c.4311C>T (p.Ala1437=) | ClinVar |
| 22 | g.50722166C>A | CA515264630 | SHANK3 | c.3934C>A (p.Gln1312Lys) n.4518C>A c.2986C>A (p.Gln996Lys) c.2476C>A (p.Gln826Lys) c.*2932C>A (n.*2932C>A) c.4330C>A (p.Gln1444Lys) c.4312C>A (p.Gln1438Lys) | |
| 22 | g.50722166C>G | CA515264631 | SHANK3 | c.3934C>G (p.Gln1312Glu) n.4518C>G c.2986C>G (p.Gln996Glu) c.2476C>G (p.Gln826Glu) c.*2932C>G (n.*2932C>G) c.4330C>G (p.Gln1444Glu) c.4312C>G (p.Gln1438Glu) | |
| 22 | g.50722166C>T | CA515264632 | SHANK3 | c.3934C>T (p.Gln1312Ter) n.4518C>T c.2986C>T (p.Gln996Ter) c.2476C>T (p.Gln826Ter) c.*2932C>T (n.*2932C>T) c.4330C>T (p.Gln1444Ter) c.4312C>T (p.Gln1438Ter) | |
| 22 | g.50722167A= | CA2411008657 | SHANK3 | c.3935A= (p.Gln1312=) n.4519A= c.2987A= (p.Gln996=) c.2477A= (p.Gln826=) c.*2933A= (n.*2933A=) c.4331A= (p.Gln1444=) c.4313A= (p.Gln1438=) | |
| 22 | g.50722167A>C | CA515264633 | SHANK3 | c.3935A>C (p.Gln1312Pro) n.4519A>C c.2987A>C (p.Gln996Pro) c.2477A>C (p.Gln826Pro) c.*2933A>C (n.*2933A>C) c.4331A>C (p.Gln1444Pro) c.4313A>C (p.Gln1438Pro) | gnomAD v4 |
| 22 | g.50722167A>G | CA515264635 | SHANK3 | c.3935A>G (p.Gln1312Arg) n.4519A>G c.2987A>G (p.Gln996Arg) c.2477A>G (p.Gln826Arg) c.*2933A>G (n.*2933A>G) c.4331A>G (p.Gln1444Arg) c.4313A>G (p.Gln1438Arg) | dbSNP |
| 22 | g.50722167A>T | CA515264636 | SHANK3 | c.3935A>T (p.Gln1312Leu) n.4519A>T c.2987A>T (p.Gln996Leu) c.2477A>T (p.Gln826Leu) c.*2933A>T (n.*2933A>T) c.4331A>T (p.Gln1444Leu) c.4313A>T (p.Gln1438Leu) | |
| 22 | g.50722168G>A | CA515264637 | SHANK3 | c.3936G>A (p.Gln1312=) n.4520G>A c.2988G>A (p.Gln996=) c.2478G>A (p.Gln826=) c.*2934G>A (n.*2934G>A) c.4332G>A (p.Gln1444=) c.4314G>A (p.Gln1438=) | |
| 22 | g.50722168G>C | CA515264639 | SHANK3 | c.3936G>C (p.Gln1312His) n.4520G>C c.2988G>C (p.Gln996His) c.2478G>C (p.Gln826His) c.*2934G>C (n.*2934G>C) c.4332G>C (p.Gln1444His) c.4314G>C (p.Gln1438His) | |
| 22 | g.50722168G>T | CA515264638 | SHANK3 | c.3936G>T (p.Gln1312His) n.4520G>T c.2988G>T (p.Gln996His) c.2478G>T (p.Gln826His) c.*2934G>T (n.*2934G>T) c.4332G>T (p.Gln1444His) c.4314G>T (p.Gln1438His) | |
| 22 | g.50722169C>A | CA515264640 | SHANK3 | c.3937C>A (p.Gln1313Lys) n.4521C>A c.2989C>A (p.Gln997Lys) c.2479C>A (p.Gln827Lys) c.*2935C>A (n.*2935C>A) c.4333C>A (p.Gln1445Lys) c.4315C>A (p.Gln1439Lys) | dbSNP |
| 22 | g.50722169C= | CA2411008658 | SHANK3 | c.3937C= (p.Gln1313=) n.4521C= c.2989C= (p.Gln997=) c.2479C= (p.Gln827=) c.*2935C= (n.*2935C=) c.4333C= (p.Gln1445=) c.4315C= (p.Gln1439=) | |
| 22 | g.50722169C>G | CA515264641 | SHANK3 | c.3937C>G (p.Gln1313Glu) n.4521C>G c.2989C>G (p.Gln997Glu) c.2479C>G (p.Gln827Glu) c.*2935C>G (n.*2935C>G) c.4333C>G (p.Gln1445Glu) c.4315C>G (p.Gln1439Glu) | |
| 22 | g.50722169C>T | CA515264642 | SHANK3 | c.3937C>T (p.Gln1313Ter) n.4521C>T c.2989C>T (p.Gln997Ter) c.2479C>T (p.Gln827Ter) c.*2935C>T (n.*2935C>T) c.4333C>T (p.Gln1445Ter) c.4315C>T (p.Gln1439Ter) | dbSNP gnomAD v2 |
| 22 | g.50722170A>C | CA515264643 | SHANK3 | c.3938A>C (p.Gln1313Pro) n.4522A>C c.2990A>C (p.Gln997Pro) c.2480A>C (p.Gln827Pro) c.*2936A>C (n.*2936A>C) c.4334A>C (p.Gln1445Pro) c.4316A>C (p.Gln1439Pro) | |
| 22 | g.50722170A>G | CA515264644 | SHANK3 | c.3938A>G (p.Gln1313Arg) n.4522A>G c.2990A>G (p.Gln997Arg) c.2480A>G (p.Gln827Arg) c.*2936A>G (n.*2936A>G) c.4334A>G (p.Gln1445Arg) c.4316A>G (p.Gln1439Arg) | |
| 22 | g.50722170A>T | CA515264646 | SHANK3 | c.3938A>T (p.Gln1313Leu) n.4522A>T c.2990A>T (p.Gln997Leu) c.2480A>T (p.Gln827Leu) c.*2936A>T (n.*2936A>T) c.4334A>T (p.Gln1445Leu) c.4316A>T (p.Gln1439Leu) | |
| 22 | g.50722171G>A | CA515264649 | SHANK3 | c.3939G>A (p.Gln1313=) n.4523G>A c.2991G>A (p.Gln997=) c.2481G>A (p.Gln827=) c.*2937G>A (n.*2937G>A) c.4335G>A (p.Gln1445=) c.4317G>A (p.Gln1439=) | COSMIC COSMIC |
| 22 | g.50722171G>C | CA515264650 | SHANK3 | c.3939G>C (p.Gln1313His) n.4523G>C c.2991G>C (p.Gln997His) c.2481G>C (p.Gln827His) c.*2937G>C (n.*2937G>C) c.4335G>C (p.Gln1445His) c.4317G>C (p.Gln1439His) | ClinVar dbSNP |
| 22 | g.50722171G>T | CA515264651 | SHANK3 | c.3939G>T (p.Gln1313His) n.4523G>T c.2991G>T (p.Gln997His) c.2481G>T (p.Gln827His) c.*2937G>T (n.*2937G>T) c.4335G>T (p.Gln1445His) c.4317G>T (p.Gln1439His) | dbSNP |
| 22 | g.50722172C>A | CA515264652 | SHANK3 | c.3940C>A (p.His1314Asn) n.4524C>A c.2992C>A (p.His998Asn) c.2482C>A (p.His828Asn) c.*2938C>A (n.*2938C>A) c.4336C>A (p.His1446Asn) c.4318C>A (p.His1440Asn) | gnomAD v4 |
| 22 | g.50722172C>G | CA515264653 | SHANK3 | c.3940C>G (p.His1314Asp) n.4524C>G c.2992C>G (p.His998Asp) c.2482C>G (p.His828Asp) c.*2938C>G (n.*2938C>G) c.4336C>G (p.His1446Asp) c.4318C>G (p.His1440Asp) | |
| 22 | g.50722172C>T | CA515264654 | SHANK3 | c.3940C>T (p.His1314Tyr) n.4524C>T c.2992C>T (p.His998Tyr) c.2482C>T (p.His828Tyr) c.*2938C>T (n.*2938C>T) c.4336C>T (p.His1446Tyr) c.4318C>T (p.His1440Tyr) | |
| 22 | g.50722173A>C | CA515264655 | SHANK3 | c.3941A>C (p.His1314Pro) n.4525A>C c.2993A>C (p.His998Pro) c.2483A>C (p.His828Pro) c.*2939A>C (n.*2939A>C) c.4337A>C (p.His1446Pro) c.4319A>C (p.His1440Pro) | |
| 22 | g.50722173A>G | CA515264657 | SHANK3 | c.3941A>G (p.His1314Arg) n.4525A>G c.2993A>G (p.His998Arg) c.2483A>G (p.His828Arg) c.*2939A>G (n.*2939A>G) c.4337A>G (p.His1446Arg) c.4319A>G (p.His1440Arg) | |
| 22 | g.50722173A>T | CA515264656 | SHANK3 | c.3941A>T (p.His1314Leu) n.4525A>T c.2993A>T (p.His998Leu) c.2483A>T (p.His828Leu) c.*2939A>T (n.*2939A>T) c.4337A>T (p.His1446Leu) c.4319A>T (p.His1440Leu) | |
| 22 | g.50722174C>A | CA515264659 | SHANK3 | c.3942C>A (p.His1314Gln) n.4526C>A c.2994C>A (p.His998Gln) c.2484C>A (p.His828Gln) c.*2940C>A (n.*2940C>A) c.4338C>A (p.His1446Gln) c.4320C>A (p.His1440Gln) | |
| 22 | g.50722174C= | CA2411008659 | SHANK3 | c.3942C= (p.His1314=) n.4526C= c.2994C= (p.His998=) c.2484C= (p.His828=) c.*2940C= (n.*2940C=) c.4338C= (p.His1446=) c.4320C= (p.His1440=) | |
| 22 | g.50722174C>G | CA10326258 | SHANK3 | c.3942C>G (p.His1314Gln) n.4526C>G c.2994C>G (p.His998Gln) c.2484C>G (p.His828Gln) c.*2940C>G (n.*2940C>G) c.4338C>G (p.His1446Gln) c.4320C>G (p.His1440Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722174C>T | CA10326259 | SHANK3 | c.3942C>T (p.His1314=) n.4526C>T c.2994C>T (p.His998=) c.2484C>T (p.His828=) c.*2940C>T (n.*2940C>T) c.4338C>T (p.His1446=) c.4320C>T (p.His1440=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722175C>A | CA515264660 | SHANK3 | c.3943C>A (p.His1315Asn) n.4527C>A c.2995C>A (p.His999Asn) c.2485C>A (p.His829Asn) c.*2941C>A (n.*2941C>A) c.4339C>A (p.His1447Asn) c.4321C>A (p.His1441Asn) | |
| 22 | g.50722175C>G | CA515264661 | SHANK3 | c.3943C>G (p.His1315Asp) n.4527C>G c.2995C>G (p.His999Asp) c.2485C>G (p.His829Asp) c.*2941C>G (n.*2941C>G) c.4339C>G (p.His1447Asp) c.4321C>G (p.His1441Asp) | |
| 22 | g.50722175C>T | CA515264662 | SHANK3 | c.3943C>T (p.His1315Tyr) n.4527C>T c.2995C>T (p.His999Tyr) c.2485C>T (p.His829Tyr) c.*2941C>T (n.*2941C>T) c.4339C>T (p.His1447Tyr) c.4321C>T (p.His1441Tyr) | |
| 22 | g.50722176_50722177insAACACACCCAACACA | CA2819316445 | SHANK3 | c.3944_3945insAACACACCCAACACA (p.His1314_His1315insGlnThrHisProThr) n.4528_4529insAACACACCCAACACA c.2996_2997insAACACACCCAACACA (p.His998_His999insGlnThrHisProThr) c.2486_2487insAACACACCCAACACA (p.His828_His829insGlnThrHisProThr) c.*2942_*2943insAACACACCCAACACA (n.*2942_*2943insAACACACCCAACACA) c.4340_4341insAACACACCCAACACA (p.His1446_His1447insGlnThrHisProThr) c.4322_4323insAACACACCCAACACA (p.His1440_His1441insGlnThrHisProThr) | |
| 22 | g.50722176A>C | CA515264663 | SHANK3 | c.3944A>C (p.His1315Pro) n.4528A>C c.2996A>C (p.His999Pro) c.2486A>C (p.His829Pro) c.*2942A>C (n.*2942A>C) c.4340A>C (p.His1447Pro) c.4322A>C (p.His1441Pro) | |
| 22 | g.50722176A>G | CA515264664 | SHANK3 | c.3944A>G (p.His1315Arg) n.4528A>G c.2996A>G (p.His999Arg) c.2486A>G (p.His829Arg) c.*2942A>G (n.*2942A>G) c.4340A>G (p.His1447Arg) c.4322A>G (p.His1441Arg) | |
| 22 | g.50722176A>T | CA515264665 | SHANK3 | c.3944A>T (p.His1315Leu) n.4528A>T c.2996A>T (p.His999Leu) c.2486A>T (p.His829Leu) c.*2942A>T (n.*2942A>T) c.4340A>T (p.His1447Leu) c.4322A>T (p.His1441Leu) | |
| 22 | g.50722177C>A | CA515264667 | SHANK3 | c.3945C>A (p.His1315Gln) n.4529C>A c.2997C>A (p.His999Gln) c.2487C>A (p.His829Gln) c.*2943C>A (n.*2943C>A) c.4341C>A (p.His1447Gln) c.4323C>A (p.His1441Gln) | |
| 22 | g.50722177C= | CA2411008660 | SHANK3 | c.3945C= (p.His1315=) n.4529C= c.2997C= (p.His999=) c.2487C= (p.His829=) c.*2943C= (n.*2943C=) c.4341C= (p.His1447=) c.4323C= (p.His1441=) | |
| 22 | g.50722177C>G | CA515264669 | SHANK3 | c.3945C>G (p.His1315Gln) n.4529C>G c.2997C>G (p.His999Gln) c.2487C>G (p.His829Gln) c.*2943C>G (n.*2943C>G) c.4341C>G (p.His1447Gln) c.4323C>G (p.His1441Gln) | |
| 22 | g.50722177C>T | CA10326260 | SHANK3 | c.3945C>T (p.His1315=) n.4529C>T c.2997C>T (p.His999=) c.2487C>T (p.His829=) c.*2943C>T (n.*2943C>T) c.4341C>T (p.His1447=) c.4323C>T (p.His1441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722178G>A | CA10326261 | SHANK3 | c.3946G>A (p.Ala1316Thr) n.4530G>A c.2998G>A (p.Ala1000Thr) c.2488G>A (p.Ala830Thr) c.*2944G>A (n.*2944G>A) c.4342G>A (p.Ala1448Thr) c.4324G>A (p.Ala1442Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722178G>C | CA515264671 | SHANK3 | c.3946G>C (p.Ala1316Pro) n.4530G>C c.2998G>C (p.Ala1000Pro) c.2488G>C (p.Ala830Pro) c.*2944G>C (n.*2944G>C) c.4342G>C (p.Ala1448Pro) c.4324G>C (p.Ala1442Pro) | |
| 22 | g.50722178G= | CA2411008661 | SHANK3 | c.3946G= (p.Ala1316=) n.4530G= c.2998G= (p.Ala1000=) c.2488G= (p.Ala830=) c.*2944G= (n.*2944G=) c.4342G= (p.Ala1448=) c.4324G= (p.Ala1442=) | |
| 22 | g.50722178G>T | CA515264672 | SHANK3 | c.3946G>T (p.Ala1316Ser) n.4530G>T c.2998G>T (p.Ala1000Ser) c.2488G>T (p.Ala830Ser) c.*2944G>T (n.*2944G>T) c.4342G>T (p.Ala1448Ser) c.4324G>T (p.Ala1442Ser) | COSMIC COSMIC |
| 22 | g.50722179C>A | CA515264673 | SHANK3 | c.3947C>A (p.Ala1316Asp) n.4531C>A c.2999C>A (p.Ala1000Asp) c.2489C>A (p.Ala830Asp) c.*2945C>A (n.*2945C>A) c.4343C>A (p.Ala1448Asp) c.4325C>A (p.Ala1442Asp) | |
| 22 | g.50722179C>G | CA515264674 | SHANK3 | c.3947C>G (p.Ala1316Gly) n.4531C>G c.2999C>G (p.Ala1000Gly) c.2489C>G (p.Ala830Gly) c.*2945C>G (n.*2945C>G) c.4343C>G (p.Ala1448Gly) c.4325C>G (p.Ala1442Gly) | |
| 22 | g.50722179C>T | CA515264675 | SHANK3 | c.3947C>T (p.Ala1316Val) n.4531C>T c.2999C>T (p.Ala1000Val) c.2489C>T (p.Ala830Val) c.*2945C>T (n.*2945C>T) c.4343C>T (p.Ala1448Val) c.4325C>T (p.Ala1442Val) | |
| 22 | g.50722179_50722180insACCCCAAA | CA2819316453 | SHANK3 | c.3947_3948insACCCCAAA (p.Ala1317ProfsTer?) n.4531_4532insACCCCAAA c.2999_3000insACCCCAAA (p.Ala1001ProfsTer?) c.2489_2490insACCCCAAA (p.Ala831ProfsTer?) c.*2945_*2946insACCCCAAA (n.*2945_*2946insACCCCAAA) c.4343_4344insACCCCAAA (p.Ala1449ProfsTer?) c.4325_4326insACCCCAAA (p.Ala1443ProfsTer?) | |
| 22 | g.50722180C>A | CA515264680 | SHANK3 | c.3948C>A (p.Ala1316=) n.4532C>A c.3000C>A (p.Ala1000=) c.2490C>A (p.Ala830=) c.*2946C>A (n.*2946C>A) c.4344C>A (p.Ala1448=) c.4326C>A (p.Ala1442=) | gnomAD v4 |
| 22 | g.50722180C= | CA2411008663 | SHANK3 | c.3948C= (p.Ala1316=) n.4532C= c.3000C= (p.Ala1000=) c.2490C= (p.Ala830=) c.*2946C= (n.*2946C=) c.4344C= (p.Ala1448=) c.4326C= (p.Ala1442=) | |
| 22 | g.50722180C>G | CA515264676 | SHANK3 | c.3948C>G (p.Ala1316=) n.4532C>G c.3000C>G (p.Ala1000=) c.2490C>G (p.Ala830=) c.*2946C>G (n.*2946C>G) c.4344C>G (p.Ala1448=) c.4326C>G (p.Ala1442=) | gnomAD v4 |
| 22 | g.50722180C>T | CA10326263 | SHANK3 | c.3948C>T (p.Ala1316=) n.4532C>T c.3000C>T (p.Ala1000=) c.2490C>T (p.Ala830=) c.*2946C>T (n.*2946C>T) c.4344C>T (p.Ala1448=) c.4326C>T (p.Ala1442=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722180_50722195delinsCGCCTCTGCCGGGCTG | CA2411008662 | SHANK3 | c.3948_3963delinsCGCCTCTGCCGGGCTG (p.Ala1316=) n.4532_4547delinsCGCCTCTGCCGGGCTG c.3000_3015delinsCGCCTCTGCCGGGCTG (p.Ala1000=) c.2490_2505delinsCGCCTCTGCCGGGCTG (p.Ala830=) c.*2946_*2961delinsCGCCTCTGCCGGGCTG (n.*2946_*2961delinsCGCCTCTGCCGGGCTG) c.4344_4359delinsCGCCTCTGCCGGGCTG (p.Ala1448=) c.4326_4341delinsCGCCTCTGCCGGGCTG (p.Ala1442=) | |
| 22 | g.50722181G>A | CA10326264 | SHANK3 | c.3949G>A (p.Ala1317Thr) n.4533G>A c.3001G>A (p.Ala1001Thr) c.2491G>A (p.Ala831Thr) c.*2947G>A (n.*2947G>A) c.4345G>A (p.Ala1449Thr) c.4327G>A (p.Ala1443Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722181G>C | CA515264681 | SHANK3 | c.3949G>C (p.Ala1317Pro) n.4533G>C c.3001G>C (p.Ala1001Pro) c.2491G>C (p.Ala831Pro) c.*2947G>C (n.*2947G>C) c.4345G>C (p.Ala1449Pro) c.4327G>C (p.Ala1443Pro) | gnomAD v4 |
| 22 | g.50722181G= | CA2411008665 | SHANK3 | c.3949G= (p.Ala1317=) n.4533G= c.3001G= (p.Ala1001=) c.2491G= (p.Ala831=) c.*2947G= (n.*2947G=) c.4345G= (p.Ala1449=) c.4327G= (p.Ala1443=) | |
| 22 | g.50722181G>T | CA515264682 | SHANK3 | c.3949G>T (p.Ala1317Ser) n.4533G>T c.3001G>T (p.Ala1001Ser) c.2491G>T (p.Ala831Ser) c.*2947G>T (n.*2947G>T) c.4345G>T (p.Ala1449Ser) c.4327G>T (p.Ala1443Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722191_50722205dup | CA2411008664 | SHANK3 | c.3959_3973dup (p.Ala1324_Ala1325insGlyLeuAlaSerAla) n.4543_4557dup c.3011_3025dup (p.Ala1008_Ala1009insGlyLeuAlaSerAla) c.2501_2515dup (p.Ala838_Ala839insGlyLeuAlaSerAla) c.*2957_*2971dup (n.*2957_*2971dup) c.4355_4369dup (p.Ala1456_Ala1457insGlyLeuAlaSerAla) c.4337_4351dup (p.Ala1450_Ala1451insGlyLeuAlaSerAla) | dbSNP gnomAD v4 |
| 22 | g.50722191_50722205del | CA10326262 | SHANK3 | c.3959_3973del (p.Gly1320_Ala1324del) n.4543_4557del c.3011_3025del (p.Gly1004_Ala1008del) c.2501_2515del (p.Gly834_Ala838del) c.*2957_*2971del (n.*2957_*2971del) c.4355_4369del (p.Gly1452_Ala1456del) c.4337_4351del (p.Gly1446_Ala1450del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722182C>A | CA515264683 | SHANK3 | c.3950C>A (p.Ala1317Asp) n.4534C>A c.3002C>A (p.Ala1001Asp) c.2492C>A (p.Ala831Asp) c.*2948C>A (n.*2948C>A) c.4346C>A (p.Ala1449Asp) c.4328C>A (p.Ala1443Asp) | |
| 22 | g.50722182C>G | CA515264686 | SHANK3 | c.3950C>G (p.Ala1317Gly) n.4534C>G c.3002C>G (p.Ala1001Gly) c.2492C>G (p.Ala831Gly) c.*2948C>G (n.*2948C>G) c.4346C>G (p.Ala1449Gly) c.4328C>G (p.Ala1443Gly) | |
| 22 | g.50722182C>T | CA515264685 | SHANK3 | c.3950C>T (p.Ala1317Val) n.4534C>T c.3002C>T (p.Ala1001Val) c.2492C>T (p.Ala831Val) c.*2948C>T (n.*2948C>T) c.4346C>T (p.Ala1449Val) c.4328C>T (p.Ala1443Val) | |
| 22 | g.50722183C>A | CA515264688 | SHANK3 | c.3951C>A (p.Ala1317=) n.4535C>A c.3003C>A (p.Ala1001=) c.2493C>A (p.Ala831=) c.*2949C>A (n.*2949C>A) c.4347C>A (p.Ala1449=) c.4329C>A (p.Ala1443=) | |
| 22 | g.50722183C= | CA2411008666 | SHANK3 | c.3951C= (p.Ala1317=) n.4535C= c.3003C= (p.Ala1001=) c.2493C= (p.Ala831=) c.*2949C= (n.*2949C=) c.4347C= (p.Ala1449=) c.4329C= (p.Ala1443=) | |
| 22 | g.50722183C>G | CA515264689 | SHANK3 | c.3951C>G (p.Ala1317=) n.4535C>G c.3003C>G (p.Ala1001=) c.2493C>G (p.Ala831=) c.*2949C>G (n.*2949C>G) c.4347C>G (p.Ala1449=) c.4329C>G (p.Ala1443=) | |
| 22 | g.50722183C>T | CA10326265 | SHANK3 | c.3951C>T (p.Ala1317=) n.4535C>T c.3003C>T (p.Ala1001=) c.2493C>T (p.Ala831=) c.*2949C>T (n.*2949C>T) c.4347C>T (p.Ala1449=) c.4329C>T (p.Ala1443=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722184T>A | CA515264690 | SHANK3 | c.3952T>A (p.Ser1318Thr) n.4536T>A c.3004T>A (p.Ser1002Thr) c.2494T>A (p.Ser832Thr) c.*2950T>A (n.*2950T>A) c.4348T>A (p.Ser1450Thr) c.4330T>A (p.Ser1444Thr) | dbSNP |
| 22 | g.50722184T>C | CA515264691 | SHANK3 | c.3952T>C (p.Ser1318Pro) n.4536T>C c.3004T>C (p.Ser1002Pro) c.2494T>C (p.Ser832Pro) c.*2950T>C (n.*2950T>C) c.4348T>C (p.Ser1450Pro) c.4330T>C (p.Ser1444Pro) | gnomAD v4 |
| 22 | g.50722184T>G | CA515264692 | SHANK3 | c.3952T>G (p.Ser1318Ala) n.4536T>G c.3004T>G (p.Ser1002Ala) c.2494T>G (p.Ser832Ala) c.*2950T>G (n.*2950T>G) c.4348T>G (p.Ser1450Ala) c.4330T>G (p.Ser1444Ala) | |
| 22 | g.50722184T= | CA2411008667 | SHANK3 | c.3952T= (p.Ser1318=) n.4536T= c.3004T= (p.Ser1002=) c.2494T= (p.Ser832=) c.*2950T= (n.*2950T=) c.4348T= (p.Ser1450=) c.4330T= (p.Ser1444=) | |
| 22 | g.50722185C>A | CA515264693 | SHANK3 | c.3953C>A (p.Ser1318Tyr) n.4537C>A c.3005C>A (p.Ser1002Tyr) c.2495C>A (p.Ser832Tyr) c.*2951C>A (n.*2951C>A) c.4349C>A (p.Ser1450Tyr) c.4331C>A (p.Ser1444Tyr) | |
| 22 | g.50722185C>G | CA515264694 | SHANK3 | c.3953C>G (p.Ser1318Cys) n.4537C>G c.3005C>G (p.Ser1002Cys) c.2495C>G (p.Ser832Cys) c.*2951C>G (n.*2951C>G) c.4349C>G (p.Ser1450Cys) c.4331C>G (p.Ser1444Cys) | |
| 22 | g.50722185C>T | CA515264695 | SHANK3 | c.3953C>T (p.Ser1318Phe) n.4537C>T c.3005C>T (p.Ser1002Phe) c.2495C>T (p.Ser832Phe) c.*2951C>T (n.*2951C>T) c.4349C>T (p.Ser1450Phe) c.4331C>T (p.Ser1444Phe) | |
| 22 | g.50722186T>A | CA515264696 | SHANK3 | c.3954T>A (p.Ser1318=) n.4538T>A c.3006T>A (p.Ser1002=) c.2496T>A (p.Ser832=) c.*2952T>A (n.*2952T>A) c.4350T>A (p.Ser1450=) c.4332T>A (p.Ser1444=) | |
| 22 | g.50722186T>C | CA515264697 | SHANK3 | c.3954T>C (p.Ser1318=) n.4538T>C c.3006T>C (p.Ser1002=) c.2496T>C (p.Ser832=) c.*2952T>C (n.*2952T>C) c.4350T>C (p.Ser1450=) c.4332T>C (p.Ser1444=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722186T>G | CA515264698 | SHANK3 | c.3954T>G (p.Ser1318=) n.4538T>G c.3006T>G (p.Ser1002=) c.2496T>G (p.Ser832=) c.*2952T>G (n.*2952T>G) c.4350T>G (p.Ser1450=) c.4332T>G (p.Ser1444=) | |
| 22 | g.50722186T= | CA2411008668 | SHANK3 | c.3954T= (p.Ser1318=) n.4538T= c.3006T= (p.Ser1002=) c.2496T= (p.Ser832=) c.*2952T= (n.*2952T=) c.4350T= (p.Ser1450=) c.4332T= (p.Ser1444=) | |
| 22 | g.50722187G>A | CA515264699 | SHANK3 | c.3955G>A (p.Ala1319Thr) n.4539G>A c.3007G>A (p.Ala1003Thr) c.2497G>A (p.Ala833Thr) c.*2953G>A (n.*2953G>A) c.4351G>A (p.Ala1451Thr) c.4333G>A (p.Ala1445Thr) | |
| 22 | g.50722187G>C | CA515264701 | SHANK3 | c.3955G>C (p.Ala1319Pro) n.4539G>C c.3007G>C (p.Ala1003Pro) c.2497G>C (p.Ala833Pro) c.*2953G>C (n.*2953G>C) c.4351G>C (p.Ala1451Pro) c.4333G>C (p.Ala1445Pro) | gnomAD v4 |
| 22 | g.50722187G>T | CA515264700 | SHANK3 | c.3955G>T (p.Ala1319Ser) n.4539G>T c.3007G>T (p.Ala1003Ser) c.2497G>T (p.Ala833Ser) c.*2953G>T (n.*2953G>T) c.4351G>T (p.Ala1451Ser) c.4333G>T (p.Ala1445Ser) | |
| 22 | g.50722194_50722211dup | CA1026672769 | SHANK3 | c.3962_3979dup (p.Gly1326_Pro1327insLeuAlaSerAlaAlaGly) n.4546_4563dup c.3014_3031dup (p.Gly1010_Pro1011insLeuAlaSerAlaAlaGly) c.2504_2521dup (p.Gly840_Pro841insLeuAlaSerAlaAlaGly) c.*2960_*2977dup (n.*2960_*2977dup) c.4358_4375dup (p.Gly1458_Pro1459insLeuAlaSerAlaAlaGly) c.4340_4357dup (p.Gly1452_Pro1453insLeuAlaSerAlaAlaGly) | dbSNP gnomAD v3 gnomAD v4 |