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.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 |
| 22 | g.50722188C>A | CA515264702 | SHANK3 | c.3956C>A (p.Ala1319Asp) n.4540C>A c.3008C>A (p.Ala1003Asp) c.2498C>A (p.Ala833Asp) c.*2954C>A (n.*2954C>A) c.4352C>A (p.Ala1451Asp) c.4334C>A (p.Ala1445Asp) | |
| 22 | g.50722188C= | CA2411008669 | SHANK3 | c.3956C= (p.Ala1319=) n.4540C= c.3008C= (p.Ala1003=) c.2498C= (p.Ala833=) c.*2954C= (n.*2954C=) c.4352C= (p.Ala1451=) c.4334C= (p.Ala1445=) | |
| 22 | g.50722188C>G | CA515264703 | SHANK3 | c.3956C>G (p.Ala1319Gly) n.4540C>G c.3008C>G (p.Ala1003Gly) c.2498C>G (p.Ala833Gly) c.*2954C>G (n.*2954C>G) c.4352C>G (p.Ala1451Gly) c.4334C>G (p.Ala1445Gly) | gnomAD v4 |
| 22 | g.50722188C>T | CA515264704 | SHANK3 | c.3956C>T (p.Ala1319Val) n.4540C>T c.3008C>T (p.Ala1003Val) c.2498C>T (p.Ala833Val) c.*2954C>T (n.*2954C>T) c.4352C>T (p.Ala1451Val) c.4334C>T (p.Ala1445Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722189C>A | CA515264705 | SHANK3 | c.3957C>A (p.Ala1319=) n.4541C>A c.3009C>A (p.Ala1003=) c.2499C>A (p.Ala833=) c.*2955C>A (n.*2955C>A) c.4353C>A (p.Ala1451=) c.4335C>A (p.Ala1445=) | |
| 22 | g.50722189C= | CA2411008670 | SHANK3 | c.3957C= (p.Ala1319=) n.4541C= c.3009C= (p.Ala1003=) c.2499C= (p.Ala833=) c.*2955C= (n.*2955C=) c.4353C= (p.Ala1451=) c.4335C= (p.Ala1445=) | |
| 22 | g.50722189C>G | CA515264706 | SHANK3 | c.3957C>G (p.Ala1319=) n.4541C>G c.3009C>G (p.Ala1003=) c.2499C>G (p.Ala833=) c.*2955C>G (n.*2955C>G) c.4353C>G (p.Ala1451=) c.4335C>G (p.Ala1445=) | |
| 22 | g.50722189C>T | CA10326266 | SHANK3 | c.3957C>T (p.Ala1319=) n.4541C>T c.3009C>T (p.Ala1003=) c.2499C>T (p.Ala833=) c.*2955C>T (n.*2955C>T) c.4353C>T (p.Ala1451=) c.4335C>T (p.Ala1445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722190G>A | CA10326267 | SHANK3 | c.3958G>A (p.Gly1320Arg) n.4542G>A c.3010G>A (p.Gly1004Arg) c.2500G>A (p.Gly834Arg) c.*2956G>A (n.*2956G>A) c.4354G>A (p.Gly1452Arg) c.4336G>A (p.Gly1446Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722190G>C | CA515264708 | SHANK3 | c.3958G>C (p.Gly1320Arg) n.4542G>C c.3010G>C (p.Gly1004Arg) c.2500G>C (p.Gly834Arg) c.*2956G>C (n.*2956G>C) c.4354G>C (p.Gly1452Arg) c.4336G>C (p.Gly1446Arg) | |
| 22 | g.50722190G= | CA2411008671 | SHANK3 | c.3958G= (p.Gly1320=) n.4542G= c.3010G= (p.Gly1004=) c.2500G= (p.Gly834=) c.*2956G= (n.*2956G=) c.4354G= (p.Gly1452=) c.4336G= (p.Gly1446=) | |
| 22 | g.50722190G>T | CA515264709 | SHANK3 | c.3958G>T (p.Gly1320Trp) n.4542G>T c.3010G>T (p.Gly1004Trp) c.2500G>T (p.Gly834Trp) c.*2956G>T (n.*2956G>T) c.4354G>T (p.Gly1452Trp) c.4336G>T (p.Gly1446Trp) | |
| 22 | g.50722191G>A | CA515264710 | SHANK3 | c.3959G>A (p.Gly1320Glu) n.4543G>A c.3011G>A (p.Gly1004Glu) c.2501G>A (p.Gly834Glu) c.*2957G>A (n.*2957G>A) c.4355G>A (p.Gly1452Glu) c.4337G>A (p.Gly1446Glu) | gnomAD v4 |
| 22 | g.50722191G>C | CA515264711 | SHANK3 | c.3959G>C (p.Gly1320Ala) n.4543G>C c.3011G>C (p.Gly1004Ala) c.2501G>C (p.Gly834Ala) c.*2957G>C (n.*2957G>C) c.4355G>C (p.Gly1452Ala) c.4337G>C (p.Gly1446Ala) | |
| 22 | g.50722191G>T | CA515264712 | SHANK3 | c.3959G>T (p.Gly1320Val) n.4543G>T c.3011G>T (p.Gly1004Val) c.2501G>T (p.Gly834Val) c.*2957G>T (n.*2957G>T) c.4355G>T (p.Gly1452Val) c.4337G>T (p.Gly1446Val) | |
| 22 | g.50722192G>A | CA515264715 | SHANK3 | c.3960G>A (p.Gly1320=) n.4544G>A c.3012G>A (p.Gly1004=) c.2502G>A (p.Gly834=) c.*2958G>A (n.*2958G>A) c.4356G>A (p.Gly1452=) c.4338G>A (p.Gly1446=) | dbSNP |
| 22 | g.50722192G>C | CA515264713 | SHANK3 | c.3960G>C (p.Gly1320=) n.4544G>C c.3012G>C (p.Gly1004=) c.2502G>C (p.Gly834=) c.*2958G>C (n.*2958G>C) c.4356G>C (p.Gly1452=) c.4338G>C (p.Gly1446=) | gnomAD v4 |
| 22 | g.50722192G= | CA2411008672 | SHANK3 | c.3960G= (p.Gly1320=) n.4544G= c.3012G= (p.Gly1004=) c.2502G= (p.Gly834=) c.*2958G= (n.*2958G=) c.4356G= (p.Gly1452=) c.4338G= (p.Gly1446=) | |
| 22 | g.50722192G>T | CA515264714 | SHANK3 | c.3960G>T (p.Gly1320=) n.4544G>T c.3012G>T (p.Gly1004=) c.2502G>T (p.Gly834=) c.*2958G>T (n.*2958G>T) c.4356G>T (p.Gly1452=) c.4338G>T (p.Gly1446=) | |
| 22 | g.50722193C>A | CA515264716 | SHANK3 | c.3961C>A (p.Leu1321Met) n.4545C>A c.3013C>A (p.Leu1005Met) c.2503C>A (p.Leu835Met) c.*2959C>A (n.*2959C>A) c.4357C>A (p.Leu1453Met) c.4339C>A (p.Leu1447Met) | |
| 22 | g.50722193C= | CA2411008673 | SHANK3 | c.3961C= (p.Leu1321=) n.4545C= c.3013C= (p.Leu1005=) c.2503C= (p.Leu835=) c.*2959C= (n.*2959C=) c.4357C= (p.Leu1453=) c.4339C= (p.Leu1447=) | |
| 22 | g.50722193C>G | CA515264717 | SHANK3 | c.3961C>G (p.Leu1321Val) n.4545C>G c.3013C>G (p.Leu1005Val) c.2503C>G (p.Leu835Val) c.*2959C>G (n.*2959C>G) c.4357C>G (p.Leu1453Val) c.4339C>G (p.Leu1447Val) | |
| 22 | g.50722193C>T | CA515264719 | SHANK3 | c.3961C>T (p.Leu1321=) n.4545C>T c.3013C>T (p.Leu1005=) c.2503C>T (p.Leu835=) c.*2959C>T (n.*2959C>T) c.4357C>T (p.Leu1453=) c.4339C>T (p.Leu1447=) | dbSNP gnomAD v2 |
| 22 | g.50722194T>A | CA515264720 | SHANK3 | c.3962T>A (p.Leu1321Gln) n.4546T>A c.3014T>A (p.Leu1005Gln) c.2504T>A (p.Leu835Gln) c.*2960T>A (n.*2960T>A) c.4358T>A (p.Leu1453Gln) c.4340T>A (p.Leu1447Gln) | |
| 22 | g.50722194T>C | CA515264722 | SHANK3 | c.3962T>C (p.Leu1321Pro) n.4546T>C c.3014T>C (p.Leu1005Pro) c.2504T>C (p.Leu835Pro) c.*2960T>C (n.*2960T>C) c.4358T>C (p.Leu1453Pro) c.4340T>C (p.Leu1447Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722194T>G | CA515264723 | SHANK3 | c.3962T>G (p.Leu1321Arg) n.4546T>G c.3014T>G (p.Leu1005Arg) c.2504T>G (p.Leu835Arg) c.*2960T>G (n.*2960T>G) c.4358T>G (p.Leu1453Arg) c.4340T>G (p.Leu1447Arg) | |
| 22 | g.50722194T= | CA2411008674 | SHANK3 | c.3962T= (p.Leu1321=) n.4546T= c.3014T= (p.Leu1005=) c.2504T= (p.Leu835=) c.*2960T= (n.*2960T=) c.4358T= (p.Leu1453=) c.4340T= (p.Leu1447=) | |
| 22 | g.50722195G>A | CA515264724 | SHANK3 | c.3963G>A (p.Leu1321=) n.4547G>A c.3015G>A (p.Leu1005=) c.2505G>A (p.Leu835=) c.*2961G>A (n.*2961G>A) c.4359G>A (p.Leu1453=) c.4341G>A (p.Leu1447=) | |
| 22 | g.50722195G>C | CA515264725 | SHANK3 | c.3963G>C (p.Leu1321=) n.4547G>C c.3015G>C (p.Leu1005=) c.2505G>C (p.Leu835=) c.*2961G>C (n.*2961G>C) c.4359G>C (p.Leu1453=) c.4341G>C (p.Leu1447=) | |
| 22 | g.50722195G>T | CA515264726 | SHANK3 | c.3963G>T (p.Leu1321=) n.4547G>T c.3015G>T (p.Leu1005=) c.2505G>T (p.Leu835=) c.*2961G>T (n.*2961G>T) c.4359G>T (p.Leu1453=) c.4341G>T (p.Leu1447=) | |
| 22 | g.50722196G>A | CA515264727 | SHANK3 | c.3964G>A (p.Ala1322Thr) n.4548G>A c.3016G>A (p.Ala1006Thr) c.2506G>A (p.Ala836Thr) c.*2962G>A (n.*2962G>A) c.4360G>A (p.Ala1454Thr) c.4342G>A (p.Ala1448Thr) | |
| 22 | g.50722196G>C | CA515264728 | SHANK3 | c.3964G>C (p.Ala1322Pro) n.4548G>C c.3016G>C (p.Ala1006Pro) c.2506G>C (p.Ala836Pro) c.*2962G>C (n.*2962G>C) c.4360G>C (p.Ala1454Pro) c.4342G>C (p.Ala1448Pro) | |
| 22 | g.50722196G>T | CA515264729 | SHANK3 | c.3964G>T (p.Ala1322Ser) n.4548G>T c.3016G>T (p.Ala1006Ser) c.2506G>T (p.Ala836Ser) c.*2962G>T (n.*2962G>T) c.4360G>T (p.Ala1454Ser) c.4342G>T (p.Ala1448Ser) | |
| 22 | g.50722197C>A | CA515264731 | SHANK3 | c.3965C>A (p.Ala1322Asp) n.4549C>A c.3017C>A (p.Ala1006Asp) c.2507C>A (p.Ala836Asp) c.*2963C>A (n.*2963C>A) c.4361C>A (p.Ala1454Asp) c.4343C>A (p.Ala1448Asp) | dbSNP |
| 22 | g.50722197C= | CA2411008675 | SHANK3 | c.3965C= (p.Ala1322=) n.4549C= c.3017C= (p.Ala1006=) c.2507C= (p.Ala836=) c.*2963C= (n.*2963C=) c.4361C= (p.Ala1454=) c.4343C= (p.Ala1448=) | |
| 22 | g.50722197C>G | CA515264733 | SHANK3 | c.3965C>G (p.Ala1322Gly) n.4549C>G c.3017C>G (p.Ala1006Gly) c.2507C>G (p.Ala836Gly) c.*2963C>G (n.*2963C>G) c.4361C>G (p.Ala1454Gly) c.4343C>G (p.Ala1448Gly) | |
| 22 | g.50722197C>T | CA10326268 | SHANK3 | c.3965C>T (p.Ala1322Val) n.4549C>T c.3017C>T (p.Ala1006Val) c.2507C>T (p.Ala836Val) c.*2963C>T (n.*2963C>T) c.4361C>T (p.Ala1454Val) c.4343C>T (p.Ala1448Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722198C>A | CA515264735 | SHANK3 | c.3966C>A (p.Ala1322=) n.4550C>A c.3018C>A (p.Ala1006=) c.2508C>A (p.Ala836=) c.*2964C>A (n.*2964C>A) c.4362C>A (p.Ala1454=) c.4344C>A (p.Ala1448=) | |
| 22 | g.50722198C= | CA2411008676 | SHANK3 | c.3966C= (p.Ala1322=) n.4550C= c.3018C= (p.Ala1006=) c.2508C= (p.Ala836=) c.*2964C= (n.*2964C=) c.4362C= (p.Ala1454=) c.4344C= (p.Ala1448=) | |
| 22 | g.50722198C>G | CA515264734 | SHANK3 | c.3966C>G (p.Ala1322=) n.4550C>G c.3018C>G (p.Ala1006=) c.2508C>G (p.Ala836=) c.*2964C>G (n.*2964C>G) c.4362C>G (p.Ala1454=) c.4344C>G (p.Ala1448=) | |
| 22 | g.50722198C>T | CA515264736 | SHANK3 | c.3966C>T (p.Ala1322=) n.4550C>T c.3018C>T (p.Ala1006=) c.2508C>T (p.Ala836=) c.*2964C>T (n.*2964C>T) c.4362C>T (p.Ala1454=) c.4344C>T (p.Ala1448=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722199T>A | CA515264737 | SHANK3 | c.3967T>A (p.Ser1323Thr) n.4551T>A c.3019T>A (p.Ser1007Thr) c.2509T>A (p.Ser837Thr) c.*2965T>A (n.*2965T>A) c.4363T>A (p.Ser1455Thr) c.4345T>A (p.Ser1449Thr) | |
| 22 | g.50722199T>C | CA515264738 | SHANK3 | c.3967T>C (p.Ser1323Pro) n.4551T>C c.3019T>C (p.Ser1007Pro) c.2509T>C (p.Ser837Pro) c.*2965T>C (n.*2965T>C) c.4363T>C (p.Ser1455Pro) c.4345T>C (p.Ser1449Pro) | |
| 22 | g.50722199T>G | CA515264739 | SHANK3 | c.3967T>G (p.Ser1323Ala) n.4551T>G c.3019T>G (p.Ser1007Ala) c.2509T>G (p.Ser837Ala) c.*2965T>G (n.*2965T>G) c.4363T>G (p.Ser1455Ala) c.4345T>G (p.Ser1449Ala) | |
| 22 | g.50722200C>A | CA515264740 | SHANK3 | c.3968C>A (p.Ser1323Tyr) n.4552C>A c.3020C>A (p.Ser1007Tyr) c.2510C>A (p.Ser837Tyr) c.*2966C>A (n.*2966C>A) c.4364C>A (p.Ser1455Tyr) c.4346C>A (p.Ser1449Tyr) | |
| 22 | g.50722200C= | CA2411008677 | SHANK3 | c.3968C= (p.Ser1323=) n.4552C= c.3020C= (p.Ser1007=) c.2510C= (p.Ser837=) c.*2966C= (n.*2966C=) c.4364C= (p.Ser1455=) c.4346C= (p.Ser1449=) | |
| 22 | g.50722200C>G | CA515264741 | SHANK3 | c.3968C>G (p.Ser1323Cys) n.4552C>G c.3020C>G (p.Ser1007Cys) c.2510C>G (p.Ser837Cys) c.*2966C>G (n.*2966C>G) c.4364C>G (p.Ser1455Cys) c.4346C>G (p.Ser1449Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722200C>T | CA515264742 | SHANK3 | c.3968C>T (p.Ser1323Phe) n.4552C>T c.3020C>T (p.Ser1007Phe) c.2510C>T (p.Ser837Phe) c.*2966C>T (n.*2966C>T) c.4364C>T (p.Ser1455Phe) c.4346C>T (p.Ser1449Phe) | gnomAD v4 |
| 22 | g.50722201T>A | CA515264743 | SHANK3 | c.3969T>A (p.Ser1323=) n.4553T>A c.3021T>A (p.Ser1007=) c.2511T>A (p.Ser837=) c.*2967T>A (n.*2967T>A) c.4365T>A (p.Ser1455=) c.4347T>A (p.Ser1449=) | |
| 22 | g.50722201T>C | CA515264744 | SHANK3 | c.3969T>C (p.Ser1323=) n.4553T>C c.3021T>C (p.Ser1007=) c.2511T>C (p.Ser837=) c.*2967T>C (n.*2967T>C) c.4365T>C (p.Ser1455=) c.4347T>C (p.Ser1449=) | |
| 22 | g.50722201T>G | CA515264746 | SHANK3 | c.3969T>G (p.Ser1323=) n.4553T>G c.3021T>G (p.Ser1007=) c.2511T>G (p.Ser837=) c.*2967T>G (n.*2967T>G) c.4365T>G (p.Ser1455=) c.4347T>G (p.Ser1449=) | |
| 22 | g.50722202G>A | CA515264748 | SHANK3 | c.3970G>A (p.Ala1324Thr) n.4554G>A c.3022G>A (p.Ala1008Thr) c.2512G>A (p.Ala838Thr) c.*2968G>A (n.*2968G>A) c.4366G>A (p.Ala1456Thr) c.4348G>A (p.Ala1450Thr) | |
| 22 | g.50722202G>C | CA515264749 | SHANK3 | c.3970G>C (p.Ala1324Pro) n.4554G>C c.3022G>C (p.Ala1008Pro) c.2512G>C (p.Ala838Pro) c.*2968G>C (n.*2968G>C) c.4366G>C (p.Ala1456Pro) c.4348G>C (p.Ala1450Pro) | |
| 22 | g.50722202G>T | CA515264750 | SHANK3 | c.3970G>T (p.Ala1324Ser) n.4554G>T c.3022G>T (p.Ala1008Ser) c.2512G>T (p.Ala838Ser) c.*2968G>T (n.*2968G>T) c.4366G>T (p.Ala1456Ser) c.4348G>T (p.Ala1450Ser) | |
| 22 | g.50722203C>A | CA515264754 | SHANK3 | c.3971C>A (p.Ala1324Asp) n.4555C>A c.3023C>A (p.Ala1008Asp) c.2513C>A (p.Ala838Asp) c.*2969C>A (n.*2969C>A) c.4367C>A (p.Ala1456Asp) c.4349C>A (p.Ala1450Asp) | |
| 22 | g.50722203C= | CA2411008678 | SHANK3 | c.3971C= (p.Ala1324=) n.4555C= c.3023C= (p.Ala1008=) c.2513C= (p.Ala838=) c.*2969C= (n.*2969C=) c.4367C= (p.Ala1456=) c.4349C= (p.Ala1450=) | |
| 22 | g.50722203C>G | CA515264752 | SHANK3 | c.3971C>G (p.Ala1324Gly) n.4555C>G c.3023C>G (p.Ala1008Gly) c.2513C>G (p.Ala838Gly) c.*2969C>G (n.*2969C>G) c.4367C>G (p.Ala1456Gly) c.4349C>G (p.Ala1450Gly) | |
| 22 | g.50722203C>T | CA515264751 | SHANK3 | c.3971C>T (p.Ala1324Val) n.4555C>T c.3023C>T (p.Ala1008Val) c.2513C>T (p.Ala838Val) c.*2969C>T (n.*2969C>T) c.4367C>T (p.Ala1456Val) c.4349C>T (p.Ala1450Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722204C>A | CA515264755 | SHANK3 | c.3972C>A (p.Ala1324=) n.4556C>A c.3024C>A (p.Ala1008=) c.2514C>A (p.Ala838=) c.*2970C>A (n.*2970C>A) c.4368C>A (p.Ala1456=) c.4350C>A (p.Ala1450=) | |
| 22 | g.50722204C= | CA2411008679 | SHANK3 | c.3972C= (p.Ala1324=) n.4556C= c.3024C= (p.Ala1008=) c.2514C= (p.Ala838=) c.*2970C= (n.*2970C=) c.4368C= (p.Ala1456=) c.4350C= (p.Ala1450=) | |
| 22 | g.50722204C>G | CA515264756 | SHANK3 | c.3972C>G (p.Ala1324=) n.4556C>G c.3024C>G (p.Ala1008=) c.2514C>G (p.Ala838=) c.*2970C>G (n.*2970C>G) c.4368C>G (p.Ala1456=) c.4350C>G (p.Ala1450=) | |
| 22 | g.50722204C>T | CA10326269 | SHANK3 | c.3972C>T (p.Ala1324=) n.4556C>T c.3024C>T (p.Ala1008=) c.2514C>T (p.Ala838=) c.*2970C>T (n.*2970C>T) c.4368C>T (p.Ala1456=) c.4350C>T (p.Ala1450=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722205G>A | CA10326270 | SHANK3 | c.3973G>A (p.Ala1325Thr) n.4557G>A c.3025G>A (p.Ala1009Thr) c.2515G>A (p.Ala839Thr) c.*2971G>A (n.*2971G>A) c.4369G>A (p.Ala1457Thr) c.4351G>A (p.Ala1451Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722205G>C | CA515264757 | SHANK3 | c.3973G>C (p.Ala1325Pro) n.4557G>C c.3025G>C (p.Ala1009Pro) c.2515G>C (p.Ala839Pro) c.*2971G>C (n.*2971G>C) c.4369G>C (p.Ala1457Pro) c.4351G>C (p.Ala1451Pro) | |
| 22 | g.50722205G= | CA2411008680 | SHANK3 | c.3973G= (p.Ala1325=) n.4557G= c.3025G= (p.Ala1009=) c.2515G= (p.Ala839=) c.*2971G= (n.*2971G=) c.4369G= (p.Ala1457=) c.4351G= (p.Ala1451=) | |
| 22 | g.50722205G>T | CA515264758 | SHANK3 | c.3973G>T (p.Ala1325Ser) n.4557G>T c.3025G>T (p.Ala1009Ser) c.2515G>T (p.Ala839Ser) c.*2971G>T (n.*2971G>T) c.4369G>T (p.Ala1457Ser) c.4351G>T (p.Ala1451Ser) | gnomAD v4 |
| 22 | g.50722206C>A | CA515264759 | SHANK3 | c.3974C>A (p.Ala1325Asp) n.4558C>A c.3026C>A (p.Ala1009Asp) c.2516C>A (p.Ala839Asp) c.*2972C>A (n.*2972C>A) c.4370C>A (p.Ala1457Asp) c.4352C>A (p.Ala1451Asp) | |
| 22 | g.50722206C>G | CA515264760 | SHANK3 | c.3974C>G (p.Ala1325Gly) n.4558C>G c.3026C>G (p.Ala1009Gly) c.2516C>G (p.Ala839Gly) c.*2972C>G (n.*2972C>G) c.4370C>G (p.Ala1457Gly) c.4352C>G (p.Ala1451Gly) | |
| 22 | g.50722206C>T | CA515264761 | SHANK3 | c.3974C>T (p.Ala1325Val) n.4558C>T c.3026C>T (p.Ala1009Val) c.2516C>T (p.Ala839Val) c.*2972C>T (n.*2972C>T) c.4370C>T (p.Ala1457Val) c.4352C>T (p.Ala1451Val) | gnomAD v4 |
| 22 | g.50722207C>A | CA515264763 | SHANK3 | c.3975C>A (p.Ala1325=) n.4559C>A c.3027C>A (p.Ala1009=) c.2517C>A (p.Ala839=) c.*2973C>A (n.*2973C>A) c.4371C>A (p.Ala1457=) c.4353C>A (p.Ala1451=) | |
| 22 | g.50722207C= | CA2411008681 | SHANK3 | c.3975C= (p.Ala1325=) n.4559C= c.3027C= (p.Ala1009=) c.2517C= (p.Ala839=) c.*2973C= (n.*2973C=) c.4371C= (p.Ala1457=) c.4353C= (p.Ala1451=) | |
| 22 | g.50722207C>G | CA515264765 | SHANK3 | c.3975C>G (p.Ala1325=) n.4559C>G c.3027C>G (p.Ala1009=) c.2517C>G (p.Ala839=) c.*2973C>G (n.*2973C>G) c.4371C>G (p.Ala1457=) c.4353C>G (p.Ala1451=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722207C>T | CA10326271 | SHANK3 | c.3975C>T (p.Ala1325=) n.4559C>T c.3027C>T (p.Ala1009=) c.2517C>T (p.Ala839=) c.*2973C>T (n.*2973C>T) c.4371C>T (p.Ala1457=) c.4353C>T (p.Ala1451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722208G>A | CA515264769 | SHANK3 | c.3976G>A (p.Gly1326Arg) n.4560G>A c.3028G>A (p.Gly1010Arg) c.2518G>A (p.Gly840Arg) c.*2974G>A (n.*2974G>A) c.4372G>A (p.Gly1458Arg) c.4354G>A (p.Gly1452Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722208G>C | CA515264768 | SHANK3 | c.3976G>C (p.Gly1326Arg) n.4560G>C c.3028G>C (p.Gly1010Arg) c.2518G>C (p.Gly840Arg) c.*2974G>C (n.*2974G>C) c.4372G>C (p.Gly1458Arg) c.4354G>C (p.Gly1452Arg) | gnomAD v4 |
| 22 | g.50722208G= | CA2411008682 | SHANK3 | c.3976G= (p.Gly1326=) n.4560G= c.3028G= (p.Gly1010=) c.2518G= (p.Gly840=) c.*2974G= (n.*2974G=) c.4372G= (p.Gly1458=) c.4354G= (p.Gly1452=) | |
| 22 | g.50722208G>T | CA515264767 | SHANK3 | c.3976G>T (p.Gly1326Trp) n.4560G>T c.3028G>T (p.Gly1010Trp) c.2518G>T (p.Gly840Trp) c.*2974G>T (n.*2974G>T) c.4372G>T (p.Gly1458Trp) c.4354G>T (p.Gly1452Trp) | gnomAD v4 |
| 22 | g.50722209G>A | CA515264770 | SHANK3 | c.3977G>A (p.Gly1326Glu) n.4561G>A c.3029G>A (p.Gly1010Glu) c.2519G>A (p.Gly840Glu) c.*2975G>A (n.*2975G>A) c.4373G>A (p.Gly1458Glu) c.4355G>A (p.Gly1452Glu) | |
| 22 | g.50722209G>C | CA515264771 | SHANK3 | c.3977G>C (p.Gly1326Ala) n.4561G>C c.3029G>C (p.Gly1010Ala) c.2519G>C (p.Gly840Ala) c.*2975G>C (n.*2975G>C) c.4373G>C (p.Gly1458Ala) c.4355G>C (p.Gly1452Ala) | |
| 22 | g.50722209G>T | CA515264772 | SHANK3 | c.3977G>T (p.Gly1326Val) n.4561G>T c.3029G>T (p.Gly1010Val) c.2519G>T (p.Gly840Val) c.*2975G>T (n.*2975G>T) c.4373G>T (p.Gly1458Val) c.4355G>T (p.Gly1452Val) | |
| 22 | g.50722210G>A | CA515264773 | SHANK3 | c.3978G>A (p.Gly1326=) n.4562G>A c.3030G>A (p.Gly1010=) c.2520G>A (p.Gly840=) c.*2976G>A (n.*2976G>A) c.4374G>A (p.Gly1458=) c.4356G>A (p.Gly1452=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722210G>C | CA515264774 | SHANK3 | c.3978G>C (p.Gly1326=) n.4562G>C c.3030G>C (p.Gly1010=) c.2520G>C (p.Gly840=) c.*2976G>C (n.*2976G>C) c.4374G>C (p.Gly1458=) c.4356G>C (p.Gly1452=) | |
| 22 | g.50722210G= | CA2411008683 | SHANK3 | c.3978G= (p.Gly1326=) n.4562G= c.3030G= (p.Gly1010=) c.2520G= (p.Gly840=) c.*2976G= (n.*2976G=) c.4374G= (p.Gly1458=) c.4356G= (p.Gly1452=) | |
| 22 | g.50722210G>T | CA515264775 | SHANK3 | c.3978G>T (p.Gly1326=) n.4562G>T c.3030G>T (p.Gly1010=) c.2520G>T (p.Gly840=) c.*2976G>T (n.*2976G>T) c.4374G>T (p.Gly1458=) c.4356G>T (p.Gly1452=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722211C>A | CA515264777 | SHANK3 | c.3979C>A (p.Pro1327Thr) n.4563C>A c.3031C>A (p.Pro1011Thr) c.2521C>A (p.Pro841Thr) c.*2977C>A (n.*2977C>A) c.4375C>A (p.Pro1459Thr) c.4357C>A (p.Pro1453Thr) | gnomAD v4 |
| 22 | g.50722211C= | CA2411008684 | SHANK3 | c.3979C= (p.Pro1327=) n.4563C= c.3031C= (p.Pro1011=) c.2521C= (p.Pro841=) c.*2977C= (n.*2977C=) c.4375C= (p.Pro1459=) c.4357C= (p.Pro1453=) | |
| 22 | g.50722211C>G | CA515264778 | SHANK3 | c.3979C>G (p.Pro1327Ala) n.4563C>G c.3031C>G (p.Pro1011Ala) c.2521C>G (p.Pro841Ala) c.*2977C>G (n.*2977C>G) c.4375C>G (p.Pro1459Ala) c.4357C>G (p.Pro1453Ala) | |
| 22 | g.50722211C>T | CA515264779 | SHANK3 | c.3979C>T (p.Pro1327Ser) n.4563C>T c.3031C>T (p.Pro1011Ser) c.2521C>T (p.Pro841Ser) c.*2977C>T (n.*2977C>T) c.4375C>T (p.Pro1459Ser) c.4357C>T (p.Pro1453Ser) | dbSNP gnomAD v4 |
| 22 | g.50722212C>A | CA515264780 | SHANK3 | c.3980C>A (p.Pro1327His) n.4564C>A c.3032C>A (p.Pro1011His) c.2522C>A (p.Pro841His) c.*2978C>A (n.*2978C>A) c.4376C>A (p.Pro1459His) c.4358C>A (p.Pro1453His) | |
| 22 | g.50722212C= | CA2411008685 | SHANK3 | c.3980C= (p.Pro1327=) n.4564C= c.3032C= (p.Pro1011=) c.2522C= (p.Pro841=) c.*2978C= (n.*2978C=) c.4376C= (p.Pro1459=) c.4358C= (p.Pro1453=) | |
| 22 | g.50722212C>G | CA515264781 | SHANK3 | c.3980C>G (p.Pro1327Arg) n.4564C>G c.3032C>G (p.Pro1011Arg) c.2522C>G (p.Pro841Arg) c.*2978C>G (n.*2978C>G) c.4376C>G (p.Pro1459Arg) c.4358C>G (p.Pro1453Arg) | gnomAD v4 |
| 22 | g.50722212C>T | CA515264782 | SHANK3 | c.3980C>T (p.Pro1327Leu) n.4564C>T c.3032C>T (p.Pro1011Leu) c.2522C>T (p.Pro841Leu) c.*2978C>T (n.*2978C>T) c.4376C>T (p.Pro1459Leu) c.4358C>T (p.Pro1453Leu) | dbSNP |
| 22 | g.50722213T>A | CA515264785 | SHANK3 | c.3981T>A (p.Pro1327=) n.4565T>A c.3033T>A (p.Pro1011=) c.2523T>A (p.Pro841=) c.*2979T>A (n.*2979T>A) c.4377T>A (p.Pro1459=) c.4359T>A (p.Pro1453=) | |
| 22 | g.50722213T>C | CA515264784 | SHANK3 | c.3981T>C (p.Pro1327=) n.4565T>C c.3033T>C (p.Pro1011=) c.2523T>C (p.Pro841=) c.*2979T>C (n.*2979T>C) c.4377T>C (p.Pro1459=) c.4359T>C (p.Pro1453=) | |
| 22 | g.50722213T>G | CA515264783 | SHANK3 | c.3981T>G (p.Pro1327=) n.4565T>G c.3033T>G (p.Pro1011=) c.2523T>G (p.Pro841=) c.*2979T>G (n.*2979T>G) c.4377T>G (p.Pro1459=) c.4359T>G (p.Pro1453=) | |
| 22 | g.50722214G>A | CA515264787 | SHANK3 | c.3982G>A (p.Ala1328Thr) n.4566G>A c.3034G>A (p.Ala1012Thr) c.2524G>A (p.Ala842Thr) c.*2980G>A (n.*2980G>A) c.4378G>A (p.Ala1460Thr) c.4360G>A (p.Ala1454Thr) | |
| 22 | g.50722214G>C | CA515264789 | SHANK3 | c.3982G>C (p.Ala1328Pro) n.4566G>C c.3034G>C (p.Ala1012Pro) c.2524G>C (p.Ala842Pro) c.*2980G>C (n.*2980G>C) c.4378G>C (p.Ala1460Pro) c.4360G>C (p.Ala1454Pro) | |
| 22 | g.50722214G= | CA2411008686 | SHANK3 | c.3982G= (p.Ala1328=) n.4566G= c.3034G= (p.Ala1012=) c.2524G= (p.Ala842=) c.*2980G= (n.*2980G=) c.4378G= (p.Ala1460=) c.4360G= (p.Ala1454=) | |
| 22 | g.50722214G>T | CA10326272 | SHANK3 | c.3982G>T (p.Ala1328Ser) n.4566G>T c.3034G>T (p.Ala1012Ser) c.2524G>T (p.Ala842Ser) c.*2980G>T (n.*2980G>T) c.4378G>T (p.Ala1460Ser) c.4360G>T (p.Ala1454Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722215C>A | CA515264791 | SHANK3 | c.3983C>A (p.Ala1328Asp) n.4567C>A c.3035C>A (p.Ala1012Asp) c.2525C>A (p.Ala842Asp) c.*2981C>A (n.*2981C>A) c.4379C>A (p.Ala1460Asp) c.4361C>A (p.Ala1454Asp) | |
| 22 | g.50722215C>G | CA515264792 | SHANK3 | c.3983C>G (p.Ala1328Gly) n.4567C>G c.3035C>G (p.Ala1012Gly) c.2525C>G (p.Ala842Gly) c.*2981C>G (n.*2981C>G) c.4379C>G (p.Ala1460Gly) c.4361C>G (p.Ala1454Gly) | |
| 22 | g.50722215C>T | CA515264793 | SHANK3 | c.3983C>T (p.Ala1328Val) n.4567C>T c.3035C>T (p.Ala1012Val) c.2525C>T (p.Ala842Val) c.*2981C>T (n.*2981C>T) c.4379C>T (p.Ala1460Val) c.4361C>T (p.Ala1454Val) | gnomAD v4 |
| 22 | g.50722216C>A | CA515264794 | SHANK3 | c.3984C>A (p.Ala1328=) n.4568C>A c.3036C>A (p.Ala1012=) c.2526C>A (p.Ala842=) c.*2982C>A (n.*2982C>A) c.4380C>A (p.Ala1460=) c.4362C>A (p.Ala1454=) | |
| 22 | g.50722216C= | CA2411008687 | SHANK3 | c.3984C= (p.Ala1328=) n.4568C= c.3036C= (p.Ala1012=) c.2526C= (p.Ala842=) c.*2982C= (n.*2982C=) c.4380C= (p.Ala1460=) c.4362C= (p.Ala1454=) | |
| 22 | g.50722216C>G | CA515264795 | SHANK3 | c.3984C>G (p.Ala1328=) n.4568C>G c.3036C>G (p.Ala1012=) c.2526C>G (p.Ala842=) c.*2982C>G (n.*2982C>G) c.4380C>G (p.Ala1460=) c.4362C>G (p.Ala1454=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722216C>T | CA515264796 | SHANK3 | c.3984C>T (p.Ala1328=) n.4568C>T c.3036C>T (p.Ala1012=) c.2526C>T (p.Ala842=) c.*2982C>T (n.*2982C>T) c.4380C>T (p.Ala1460=) c.4362C>T (p.Ala1454=) | |
| 22 | g.50722217C>A | CA515264798 | SHANK3 | c.3985C>A (p.Arg1329Ser) n.4569C>A c.3037C>A (p.Arg1013Ser) c.2527C>A (p.Arg843Ser) c.*2983C>A (n.*2983C>A) c.4381C>A (p.Arg1461Ser) c.4363C>A (p.Arg1455Ser) | dbSNP COSMIC |
| 22 | g.50722217C= | CA2411008688 | SHANK3 | c.3985C= (p.Arg1329=) n.4569C= c.3037C= (p.Arg1013=) c.2527C= (p.Arg843=) c.*2983C= (n.*2983C=) c.4381C= (p.Arg1461=) c.4363C= (p.Arg1455=) | |
| 22 | g.50722217C>G | CA515264800 | SHANK3 | c.3985C>G (p.Arg1329Gly) n.4569C>G c.3037C>G (p.Arg1013Gly) c.2527C>G (p.Arg843Gly) c.*2983C>G (n.*2983C>G) c.4381C>G (p.Arg1461Gly) c.4363C>G (p.Arg1455Gly) | |
| 22 | g.50722217C>T | CA10326273 | SHANK3 | c.3985C>T (p.Arg1329Cys) n.4569C>T c.3037C>T (p.Arg1013Cys) c.2527C>T (p.Arg843Cys) c.*2983C>T (n.*2983C>T) c.4381C>T (p.Arg1461Cys) c.4363C>T (p.Arg1455Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722218G>A | CA10326274 | SHANK3 | c.3986G>A (p.Arg1329His) n.4570G>A c.3038G>A (p.Arg1013His) c.2528G>A (p.Arg843His) c.*2984G>A (n.*2984G>A) c.4382G>A (p.Arg1461His) c.4364G>A (p.Arg1455His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.50722218G>C | CA515264802 | SHANK3 | c.3986G>C (p.Arg1329Pro) n.4570G>C c.3038G>C (p.Arg1013Pro) c.2528G>C (p.Arg843Pro) c.*2984G>C (n.*2984G>C) c.4382G>C (p.Arg1461Pro) c.4364G>C (p.Arg1455Pro) | gnomAD v4 |
| 22 | g.50722218G= | CA2411008689 | SHANK3 | c.3986G= (p.Arg1329=) n.4570G= c.3038G= (p.Arg1013=) c.2528G= (p.Arg843=) c.*2984G= (n.*2984G=) c.4382G= (p.Arg1461=) c.4364G= (p.Arg1455=) | |
| 22 | g.50722218G>T | CA515264801 | SHANK3 | c.3986G>T (p.Arg1329Leu) n.4570G>T c.3038G>T (p.Arg1013Leu) c.2528G>T (p.Arg843Leu) c.*2984G>T (n.*2984G>T) c.4382G>T (p.Arg1461Leu) c.4364G>T (p.Arg1455Leu) | |
| 22 | g.50722219C>A | CA515264803 | SHANK3 | c.3987C>A (p.Arg1329=) n.4571C>A c.3039C>A (p.Arg1013=) c.2529C>A (p.Arg843=) c.*2985C>A (n.*2985C>A) c.4383C>A (p.Arg1461=) c.4365C>A (p.Arg1455=) | |
| 22 | g.50722219C= | CA2411008690 | SHANK3 | c.3987C= (p.Arg1329=) n.4571C= c.3039C= (p.Arg1013=) c.2529C= (p.Arg843=) c.*2985C= (n.*2985C=) c.4383C= (p.Arg1461=) c.4365C= (p.Arg1455=) | |
| 22 | g.50722219C>G | CA515264805 | SHANK3 | c.3987C>G (p.Arg1329=) n.4571C>G c.3039C>G (p.Arg1013=) c.2529C>G (p.Arg843=) c.*2985C>G (n.*2985C>G) c.4383C>G (p.Arg1461=) c.4365C>G (p.Arg1455=) | |
| 22 | g.50722219C>T | CA10326275 | SHANK3 | c.3987C>T (p.Arg1329=) n.4571C>T c.3039C>T (p.Arg1013=) c.2529C>T (p.Arg843=) c.*2985C>T (n.*2985C>T) c.4383C>T (p.Arg1461=) c.4365C>T (p.Arg1455=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722221dup | CA2582342889 | SHANK3 | c.3989dup (p.Arg1331SerfsTer24) n.4573dup c.3041dup (p.Arg1015SerfsTer24) c.2531dup (p.Arg845SerfsTer24) c.*2987dup (n.*2987dup) c.4385dup (p.Arg1463SerfsTer24) c.4367dup (p.Arg1457SerfsTer24) | ClinVar |
| 22 | g.50722220C>A | CA515264806 | SHANK3 | c.3988C>A (p.Pro1330Thr) n.4572C>A c.3040C>A (p.Pro1014Thr) c.2530C>A (p.Pro844Thr) c.*2986C>A (n.*2986C>A) c.4384C>A (p.Pro1462Thr) c.4366C>A (p.Pro1456Thr) | dbSNP gnomAD v2 |
| 22 | g.50722220C= | CA2411008691 | SHANK3 | c.3988C= (p.Pro1330=) n.4572C= c.3040C= (p.Pro1014=) c.2530C= (p.Pro844=) c.*2986C= (n.*2986C=) c.4384C= (p.Pro1462=) c.4366C= (p.Pro1456=) | |
| 22 | g.50722220C>G | CA515264807 | SHANK3 | c.3988C>G (p.Pro1330Ala) n.4572C>G c.3040C>G (p.Pro1014Ala) c.2530C>G (p.Pro844Ala) c.*2986C>G (n.*2986C>G) c.4384C>G (p.Pro1462Ala) c.4366C>G (p.Pro1456Ala) | |
| 22 | g.50722220C>T | CA10326276 | SHANK3 | c.3988C>T (p.Pro1330Ser) n.4572C>T c.3040C>T (p.Pro1014Ser) c.2530C>T (p.Pro844Ser) c.*2986C>T (n.*2986C>T) c.4384C>T (p.Pro1462Ser) c.4366C>T (p.Pro1456Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722221C>A | CA515264811 | SHANK3 | c.3989C>A (p.Pro1330His) n.4573C>A c.3041C>A (p.Pro1014His) c.2531C>A (p.Pro844His) c.*2987C>A (n.*2987C>A) c.4385C>A (p.Pro1462His) c.4367C>A (p.Pro1456His) | |
| 22 | g.50722221C>G | CA515264810 | SHANK3 | c.3989C>G (p.Pro1330Arg) n.4573C>G c.3041C>G (p.Pro1014Arg) c.2531C>G (p.Pro844Arg) c.*2987C>G (n.*2987C>G) c.4385C>G (p.Pro1462Arg) c.4367C>G (p.Pro1456Arg) | |
| 22 | g.50722221C>T | CA515264809 | SHANK3 | c.3989C>T (p.Pro1330Leu) n.4573C>T c.3041C>T (p.Pro1014Leu) c.2531C>T (p.Pro844Leu) c.*2987C>T (n.*2987C>T) c.4385C>T (p.Pro1462Leu) c.4367C>T (p.Pro1456Leu) | COSMIC COSMIC |
| 22 | g.50722222T>A | CA515264812 | SHANK3 | c.3990T>A (p.Pro1330=) n.4574T>A c.3042T>A (p.Pro1014=) c.2532T>A (p.Pro844=) c.*2988T>A (n.*2988T>A) c.4386T>A (p.Pro1462=) c.4368T>A (p.Pro1456=) | |
| 22 | g.50722222T>C | CA515264813 | SHANK3 | c.3990T>C (p.Pro1330=) n.4574T>C c.3042T>C (p.Pro1014=) c.2532T>C (p.Pro844=) c.*2988T>C (n.*2988T>C) c.4386T>C (p.Pro1462=) c.4368T>C (p.Pro1456=) | |
| 22 | g.50722222T>G | CA515264814 | SHANK3 | c.3990T>G (p.Pro1330=) n.4574T>G c.3042T>G (p.Pro1014=) c.2532T>G (p.Pro844=) c.*2988T>G (n.*2988T>G) c.4386T>G (p.Pro1462=) c.4368T>G (p.Pro1456=) | |
| 22 | g.50722223C>A | CA515264815 | SHANK3 | c.3991C>A (p.Arg1331Ser) n.4575C>A c.3043C>A (p.Arg1015Ser) c.2533C>A (p.Arg845Ser) c.*2989C>A (n.*2989C>A) c.4387C>A (p.Arg1463Ser) c.4369C>A (p.Arg1457Ser) | dbSNP |
| 22 | g.50722223C= | CA2411008692 | SHANK3 | c.3991C= (p.Arg1331=) n.4575C= c.3043C= (p.Arg1015=) c.2533C= (p.Arg845=) c.*2989C= (n.*2989C=) c.4387C= (p.Arg1463=) c.4369C= (p.Arg1457=) | |
| 22 | g.50722223C>G | CA515264816 | SHANK3 | c.3991C>G (p.Arg1331Gly) n.4575C>G c.3043C>G (p.Arg1015Gly) c.2533C>G (p.Arg845Gly) c.*2989C>G (n.*2989C>G) c.4387C>G (p.Arg1463Gly) c.4369C>G (p.Arg1457Gly) | dbSNP |
| 22 | g.50722223C>T | CA515264817 | SHANK3 | c.3991C>T (p.Arg1331Cys) n.4575C>T c.3043C>T (p.Arg1015Cys) c.2533C>T (p.Arg845Cys) c.*2989C>T (n.*2989C>T) c.4387C>T (p.Arg1463Cys) c.4369C>T (p.Arg1457Cys) | dbSNP gnomAD v4 |
| 22 | g.50722224G>A | CA515264818 | SHANK3 | c.3992G>A (p.Arg1331His) n.4576G>A c.3044G>A (p.Arg1015His) c.2534G>A (p.Arg845His) c.*2990G>A (n.*2990G>A) c.4388G>A (p.Arg1463His) c.4370G>A (p.Arg1457His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722224G>C | CA515264820 | SHANK3 | c.3992G>C (p.Arg1331Pro) n.4576G>C c.3044G>C (p.Arg1015Pro) c.2534G>C (p.Arg845Pro) c.*2990G>C (n.*2990G>C) c.4388G>C (p.Arg1463Pro) c.4370G>C (p.Arg1457Pro) | |
| 22 | g.50722224G= | CA2411008693 | SHANK3 | c.3992G= (p.Arg1331=) n.4576G= c.3044G= (p.Arg1015=) c.2534G= (p.Arg845=) c.*2990G= (n.*2990G=) c.4388G= (p.Arg1463=) c.4370G= (p.Arg1457=) | |
| 22 | g.50722224G>T | CA515264819 | SHANK3 | c.3992G>T (p.Arg1331Leu) n.4576G>T c.3044G>T (p.Arg1015Leu) c.2534G>T (p.Arg845Leu) c.*2990G>T (n.*2990G>T) c.4388G>T (p.Arg1463Leu) c.4370G>T (p.Arg1457Leu) | |
| 22 | g.50722225C>A | CA515264821 | SHANK3 | c.3993C>A (p.Arg1331=) n.4577C>A c.3045C>A (p.Arg1015=) c.2535C>A (p.Arg845=) c.*2991C>A (n.*2991C>A) c.4389C>A (p.Arg1463=) c.4371C>A (p.Arg1457=) | |
| 22 | g.50722225C>G | CA515264822 | SHANK3 | c.3993C>G (p.Arg1331=) n.4577C>G c.3045C>G (p.Arg1015=) c.2535C>G (p.Arg845=) c.*2991C>G (n.*2991C>G) c.4389C>G (p.Arg1463=) c.4371C>G (p.Arg1457=) | |
| 22 | g.50722225C>T | CA515264823 | SHANK3 | c.3993C>T (p.Arg1331=) n.4577C>T c.3045C>T (p.Arg1015=) c.2535C>T (p.Arg845=) c.*2991C>T (n.*2991C>T) c.4389C>T (p.Arg1463=) c.4371C>T (p.Arg1457=) | gnomAD v4 |
| 22 | g.50722226T>A | CA515264824 | SHANK3 | c.3994T>A (p.Tyr1332Asn) n.4578T>A c.3046T>A (p.Tyr1016Asn) c.2536T>A (p.Tyr846Asn) c.*2992T>A (n.*2992T>A) c.4390T>A (p.Tyr1464Asn) c.4372T>A (p.Tyr1458Asn) | |
| 22 | g.50722226T>C | CA515264825 | SHANK3 | c.3994T>C (p.Tyr1332His) n.4578T>C c.3046T>C (p.Tyr1016His) c.2536T>C (p.Tyr846His) c.*2992T>C (n.*2992T>C) c.4390T>C (p.Tyr1464His) c.4372T>C (p.Tyr1458His) | gnomAD v4 |
| 22 | g.50722226T>G | CA515264826 | SHANK3 | c.3994T>G (p.Tyr1332Asp) n.4578T>G c.3046T>G (p.Tyr1016Asp) c.2536T>G (p.Tyr846Asp) c.*2992T>G (n.*2992T>G) c.4390T>G (p.Tyr1464Asp) c.4372T>G (p.Tyr1458Asp) | |
| 22 | g.50722227A= | CA2411008694 | SHANK3 | c.3995A= (p.Tyr1332=) n.4579A= c.3047A= (p.Tyr1016=) c.2537A= (p.Tyr846=) c.*2993A= (n.*2993A=) c.4391A= (p.Tyr1464=) c.4373A= (p.Tyr1458=) | |
| 22 | g.50722227A>C | CA515264827 | SHANK3 | c.3995A>C (p.Tyr1332Ser) n.4579A>C c.3047A>C (p.Tyr1016Ser) c.2537A>C (p.Tyr846Ser) c.*2993A>C (n.*2993A>C) c.4391A>C (p.Tyr1464Ser) c.4373A>C (p.Tyr1458Ser) | |
| 22 | g.50722227A>G | CA515264828 | SHANK3 | c.3995A>G (p.Tyr1332Cys) n.4579A>G c.3047A>G (p.Tyr1016Cys) c.2537A>G (p.Tyr846Cys) c.*2993A>G (n.*2993A>G) c.4391A>G (p.Tyr1464Cys) c.4373A>G (p.Tyr1458Cys) | |
| 22 | g.50722227A>T | CA515264829 | SHANK3 | c.3995A>T (p.Tyr1332Phe) n.4579A>T c.3047A>T (p.Tyr1016Phe) c.2537A>T (p.Tyr846Phe) c.*2993A>T (n.*2993A>T) c.4391A>T (p.Tyr1464Phe) c.4373A>T (p.Tyr1458Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722228C>A | CA515264830 | SHANK3 | c.3996C>A (p.Tyr1332Ter) n.4580C>A c.3048C>A (p.Tyr1016Ter) c.2538C>A (p.Tyr846Ter) c.*2994C>A (n.*2994C>A) c.4392C>A (p.Tyr1464Ter) c.4374C>A (p.Tyr1458Ter) | |
| 22 | g.50722228C>G | CA515264831 | SHANK3 | c.3996C>G (p.Tyr1332Ter) n.4580C>G c.3048C>G (p.Tyr1016Ter) c.2538C>G (p.Tyr846Ter) c.*2994C>G (n.*2994C>G) c.4392C>G (p.Tyr1464Ter) c.4374C>G (p.Tyr1458Ter) | |
| 22 | g.50722228C>T | CA515264832 | SHANK3 | c.3996C>T (p.Tyr1332=) n.4580C>T c.3048C>T (p.Tyr1016=) c.2538C>T (p.Tyr846=) c.*2994C>T (n.*2994C>T) c.4392C>T (p.Tyr1464=) c.4374C>T (p.Tyr1458=) | |
| 22 | g.50722229C>A | CA515264834 | SHANK3 | c.3997C>A (p.Leu1333Ile) n.4581C>A c.3049C>A (p.Leu1017Ile) c.2539C>A (p.Leu847Ile) c.*2995C>A (n.*2995C>A) c.4393C>A (p.Leu1465Ile) c.4375C>A (p.Leu1459Ile) | |
| 22 | g.50722229C>G | CA515264836 | SHANK3 | c.3997C>G (p.Leu1333Val) n.4581C>G c.3049C>G (p.Leu1017Val) c.2539C>G (p.Leu847Val) c.*2995C>G (n.*2995C>G) c.4393C>G (p.Leu1465Val) c.4375C>G (p.Leu1459Val) | |
| 22 | g.50722229C>T | CA515264835 | SHANK3 | c.3997C>T (p.Leu1333Phe) n.4581C>T c.3049C>T (p.Leu1017Phe) c.2539C>T (p.Leu847Phe) c.*2995C>T (n.*2995C>T) c.4393C>T (p.Leu1465Phe) c.4375C>T (p.Leu1459Phe) | gnomAD v4 |
| 22 | g.50722230T>A | CA515264837 | SHANK3 | c.3998T>A (p.Leu1333His) n.4582T>A c.3050T>A (p.Leu1017His) c.2540T>A (p.Leu847His) c.*2996T>A (n.*2996T>A) c.4394T>A (p.Leu1465His) c.4376T>A (p.Leu1459His) | |
| 22 | g.50722230T>C | CA515264838 | SHANK3 | c.3998T>C (p.Leu1333Pro) n.4582T>C c.3050T>C (p.Leu1017Pro) c.2540T>C (p.Leu847Pro) c.*2996T>C (n.*2996T>C) c.4394T>C (p.Leu1465Pro) c.4376T>C (p.Leu1459Pro) | |
| 22 | g.50722230T>G | CA515264839 | SHANK3 | c.3998T>G (p.Leu1333Arg) n.4582T>G c.3050T>G (p.Leu1017Arg) c.2540T>G (p.Leu847Arg) c.*2996T>G (n.*2996T>G) c.4394T>G (p.Leu1465Arg) c.4376T>G (p.Leu1459Arg) | |
| 22 | g.50722231C>A | CA515264840 | SHANK3 | c.3999C>A (p.Leu1333=) n.4583C>A c.3051C>A (p.Leu1017=) c.2541C>A (p.Leu847=) c.*2997C>A (n.*2997C>A) c.4395C>A (p.Leu1465=) c.4377C>A (p.Leu1459=) | |
| 22 | g.50722231C= | CA2411008695 | SHANK3 | c.3999C= (p.Leu1333=) n.4583C= c.3051C= (p.Leu1017=) c.2541C= (p.Leu847=) c.*2997C= (n.*2997C=) c.4395C= (p.Leu1465=) c.4377C= (p.Leu1459=) | |
| 22 | g.50722231C>G | CA515264841 | SHANK3 | c.3999C>G (p.Leu1333=) n.4583C>G c.3051C>G (p.Leu1017=) c.2541C>G (p.Leu847=) c.*2997C>G (n.*2997C>G) c.4395C>G (p.Leu1465=) c.4377C>G (p.Leu1459=) | dbSNP |
| 22 | g.50722231C>T | CA10326277 | SHANK3 | c.3999C>T (p.Leu1333=) n.4583C>T c.3051C>T (p.Leu1017=) c.2541C>T (p.Leu847=) c.*2997C>T (n.*2997C>T) c.4395C>T (p.Leu1465=) c.4377C>T (p.Leu1459=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722232T>A | CA515264842 | SHANK3 | c.4000T>A (p.Phe1334Ile) n.4584T>A c.3052T>A (p.Phe1018Ile) c.2542T>A (p.Phe848Ile) c.*2998T>A (n.*2998T>A) c.4396T>A (p.Phe1466Ile) c.4378T>A (p.Phe1460Ile) | |
| 22 | g.50722232T>C | CA515264844 | SHANK3 | c.4000T>C (p.Phe1334Leu) n.4584T>C c.3052T>C (p.Phe1018Leu) c.2542T>C (p.Phe848Leu) c.*2998T>C (n.*2998T>C) c.4396T>C (p.Phe1466Leu) c.4378T>C (p.Phe1460Leu) | |
| 22 | g.50722232T>G | CA515264845 | SHANK3 | c.4000T>G (p.Phe1334Val) n.4584T>G c.3052T>G (p.Phe1018Val) c.2542T>G (p.Phe848Val) c.*2998T>G (n.*2998T>G) c.4396T>G (p.Phe1466Val) c.4378T>G (p.Phe1460Val) | |
| 22 | g.50722233T>A | CA515264846 | SHANK3 | c.4001T>A (p.Phe1334Tyr) n.4585T>A c.3053T>A (p.Phe1018Tyr) c.2543T>A (p.Phe848Tyr) c.*2999T>A (n.*2999T>A) c.4397T>A (p.Phe1466Tyr) c.4379T>A (p.Phe1460Tyr) | |
| 22 | g.50722233T>C | CA515264847 | SHANK3 | c.4001T>C (p.Phe1334Ser) n.4585T>C c.3053T>C (p.Phe1018Ser) c.2543T>C (p.Phe848Ser) c.*2999T>C (n.*2999T>C) c.4397T>C (p.Phe1466Ser) c.4379T>C (p.Phe1460Ser) | |
| 22 | g.50722233T>G | CA515264848 | SHANK3 | c.4001T>G (p.Phe1334Cys) n.4585T>G c.3053T>G (p.Phe1018Cys) c.2543T>G (p.Phe848Cys) c.*2999T>G (n.*2999T>G) c.4397T>G (p.Phe1466Cys) c.4379T>G (p.Phe1460Cys) | |
| 22 | g.50722234C>A | CA515264851 | SHANK3 | c.4002C>A (p.Phe1334Leu) n.4586C>A c.3054C>A (p.Phe1018Leu) c.2544C>A (p.Phe848Leu) c.*3000C>A (n.*3000C>A) c.4398C>A (p.Phe1466Leu) c.4380C>A (p.Phe1460Leu) | |
| 22 | g.50722234C>G | CA515264850 | SHANK3 | c.4002C>G (p.Phe1334Leu) n.4586C>G c.3054C>G (p.Phe1018Leu) c.2544C>G (p.Phe848Leu) c.*3000C>G (n.*3000C>G) c.4398C>G (p.Phe1466Leu) c.4380C>G (p.Phe1460Leu) | |
| 22 | g.50722234C>T | CA515264849 | SHANK3 | c.4002C>T (p.Phe1334=) n.4586C>T c.3054C>T (p.Phe1018=) c.2544C>T (p.Phe848=) c.*3000C>T (n.*3000C>T) c.4398C>T (p.Phe1466=) c.4380C>T (p.Phe1460=) | |
| 22 | g.50722235C>A | CA515264852 | SHANK3 | c.4003C>A (p.Gln1335Lys) n.4587C>A c.3055C>A (p.Gln1019Lys) c.2545C>A (p.Gln849Lys) c.*3001C>A (n.*3001C>A) c.4399C>A (p.Gln1467Lys) c.4381C>A (p.Gln1461Lys) | |
| 22 | g.50722235C= | CA2411008696 | SHANK3 | c.4003C= (p.Gln1335=) n.4587C= c.3055C= (p.Gln1019=) c.2545C= (p.Gln849=) c.*3001C= (n.*3001C=) c.4399C= (p.Gln1467=) c.4381C= (p.Gln1461=) | |
| 22 | g.50722235C>G | CA515264853 | SHANK3 | c.4003C>G (p.Gln1335Glu) n.4587C>G c.3055C>G (p.Gln1019Glu) c.2545C>G (p.Gln849Glu) c.*3001C>G (n.*3001C>G) c.4399C>G (p.Gln1467Glu) c.4381C>G (p.Gln1461Glu) | |
| 22 | g.50722235C>T | CA16621142 | SHANK3 | c.4003C>T (p.Gln1335Ter) n.4587C>T c.3055C>T (p.Gln1019Ter) c.2545C>T (p.Gln849Ter) c.*3001C>T (n.*3001C>T) c.4399C>T (p.Gln1467Ter) c.4381C>T (p.Gln1461Ter) | ClinVar dbSNP |
| 22 | g.50722236A>C | CA515264855 | SHANK3 | c.4004A>C (p.Gln1335Pro) n.4588A>C c.3056A>C (p.Gln1019Pro) c.2546A>C (p.Gln849Pro) c.*3002A>C (n.*3002A>C) c.4400A>C (p.Gln1467Pro) c.4382A>C (p.Gln1461Pro) | |
| 22 | g.50722236A>G | CA515264856 | SHANK3 | c.4004A>G (p.Gln1335Arg) n.4588A>G c.3056A>G (p.Gln1019Arg) c.2546A>G (p.Gln849Arg) c.*3002A>G (n.*3002A>G) c.4400A>G (p.Gln1467Arg) c.4382A>G (p.Gln1461Arg) | gnomAD v4 |
| 22 | g.50722236A>T | CA515264857 | SHANK3 | c.4004A>T (p.Gln1335Leu) n.4588A>T c.3056A>T (p.Gln1019Leu) c.2546A>T (p.Gln849Leu) c.*3002A>T (n.*3002A>T) c.4400A>T (p.Gln1467Leu) c.4382A>T (p.Gln1461Leu) | |
| 22 | g.50722237G>A | CA515264858 | SHANK3 | c.4005G>A (p.Gln1335=) n.4589G>A c.3057G>A (p.Gln1019=) c.2547G>A (p.Gln849=) c.*3003G>A (n.*3003G>A) c.4401G>A (p.Gln1467=) c.4383G>A (p.Gln1461=) | |
| 22 | g.50722237G>C | CA515264859 | SHANK3 | c.4005G>C (p.Gln1335His) n.4589G>C c.3057G>C (p.Gln1019His) c.2547G>C (p.Gln849His) c.*3003G>C (n.*3003G>C) c.4401G>C (p.Gln1467His) c.4383G>C (p.Gln1461His) | |
| 22 | g.50722237G>T | CA515264860 | SHANK3 | c.4005G>T (p.Gln1335His) n.4589G>T c.3057G>T (p.Gln1019His) c.2547G>T (p.Gln849His) c.*3003G>T (n.*3003G>T) c.4401G>T (p.Gln1467His) c.4383G>T (p.Gln1461His) | |
| 22 | g.50722238A>C | CA515264861 | SHANK3 | c.4006A>C (p.Arg1336=) n.4590A>C c.3058A>C (p.Arg1020=) c.2548A>C (p.Arg850=) c.*3004A>C (n.*3004A>C) c.4402A>C (p.Arg1468=) c.4384A>C (p.Arg1462=) | |
| 22 | g.50722238A>G | CA515264862 | SHANK3 | c.4006A>G (p.Arg1336Gly) n.4590A>G c.3058A>G (p.Arg1020Gly) c.2548A>G (p.Arg850Gly) c.*3004A>G (n.*3004A>G) c.4402A>G (p.Arg1468Gly) c.4384A>G (p.Arg1462Gly) | |
| 22 | g.50722238A>T | CA515264863 | SHANK3 | c.4006A>T (p.Arg1336Ter) n.4590A>T c.3058A>T (p.Arg1020Ter) c.2548A>T (p.Arg850Ter) c.*3004A>T (n.*3004A>T) c.4402A>T (p.Arg1468Ter) c.4384A>T (p.Arg1462Ter) | |
| 22 | g.50722239G>A | CA325580291 | SHANK3 | c.4007G>A (p.Arg1336Lys) n.4591G>A c.3059G>A (p.Arg1020Lys) c.2549G>A (p.Arg850Lys) c.*3005G>A (n.*3005G>A) c.4403G>A (p.Arg1468Lys) c.4385G>A (p.Arg1462Lys) | dbSNP |
| 22 | g.50722239G>C | CA515264865 | SHANK3 | c.4007G>C (p.Arg1336Thr) n.4591G>C c.3059G>C (p.Arg1020Thr) c.2549G>C (p.Arg850Thr) c.*3005G>C (n.*3005G>C) c.4403G>C (p.Arg1468Thr) c.4385G>C (p.Arg1462Thr) | |
| 22 | g.50722239G= | CA2411008697 | SHANK3 | c.4007G= (p.Arg1336=) n.4591G= c.3059G= (p.Arg1020=) c.2549G= (p.Arg850=) c.*3005G= (n.*3005G=) c.4403G= (p.Arg1468=) c.4385G= (p.Arg1462=) | |
| 22 | g.50722239G>T | CA515264864 | SHANK3 | c.4007G>T (p.Arg1336Ile) n.4591G>T c.3059G>T (p.Arg1020Ile) c.2549G>T (p.Arg850Ile) c.*3005G>T (n.*3005G>T) c.4403G>T (p.Arg1468Ile) c.4385G>T (p.Arg1462Ile) | |
| 22 | g.50722240A>C | CA515264866 | SHANK3 | c.4008A>C (p.Arg1336Ser) n.4592A>C c.3060A>C (p.Arg1020Ser) c.2550A>C (p.Arg850Ser) c.*3006A>C (n.*3006A>C) c.4404A>C (p.Arg1468Ser) c.4386A>C (p.Arg1462Ser) | |
| 22 | g.50722240A>G | CA515264869 | SHANK3 | c.4008A>G (p.Arg1336=) n.4592A>G c.3060A>G (p.Arg1020=) c.2550A>G (p.Arg850=) c.*3006A>G (n.*3006A>G) c.4404A>G (p.Arg1468=) c.4386A>G (p.Arg1462=) | |
| 22 | g.50722240A>T | CA515264868 | SHANK3 | c.4008A>T (p.Arg1336Ser) n.4592A>T c.3060A>T (p.Arg1020Ser) c.2550A>T (p.Arg850Ser) c.*3006A>T (n.*3006A>T) c.4404A>T (p.Arg1468Ser) c.4386A>T (p.Arg1462Ser) | |
| 22 | g.50722241A>C | CA515264870 | SHANK3 | c.4009A>C (p.Arg1337=) n.4593A>C c.3061A>C (p.Arg1021=) c.2551A>C (p.Arg851=) c.*3007A>C (n.*3007A>C) c.4405A>C (p.Arg1469=) c.4387A>C (p.Arg1463=) | |
| 22 | g.50722241A>G | CA515264871 | SHANK3 | c.4009A>G (p.Arg1337Gly) n.4593A>G c.3061A>G (p.Arg1021Gly) c.2551A>G (p.Arg851Gly) c.*3007A>G (n.*3007A>G) c.4405A>G (p.Arg1469Gly) c.4387A>G (p.Arg1463Gly) | |
| 22 | g.50722241A>T | CA515264872 | SHANK3 | c.4009A>T (p.Arg1337Trp) n.4593A>T c.3061A>T (p.Arg1021Trp) c.2551A>T (p.Arg851Trp) c.*3007A>T (n.*3007A>T) c.4405A>T (p.Arg1469Trp) c.4387A>T (p.Arg1463Trp) | |
| 22 | g.50722242G>A | CA515264874 | SHANK3 | c.4010G>A (p.Arg1337Lys) n.4594G>A c.3062G>A (p.Arg1021Lys) c.2552G>A (p.Arg851Lys) c.*3008G>A (n.*3008G>A) c.4406G>A (p.Arg1469Lys) c.4388G>A (p.Arg1463Lys) | ClinVar dbSNP |
| 22 | g.50722242G>C | CA515264875 | SHANK3 | c.4010G>C (p.Arg1337Thr) n.4594G>C c.3062G>C (p.Arg1021Thr) c.2552G>C (p.Arg851Thr) c.*3008G>C (n.*3008G>C) c.4406G>C (p.Arg1469Thr) c.4388G>C (p.Arg1463Thr) | |
| 22 | g.50722242G>T | CA515264876 | SHANK3 | c.4010G>T (p.Arg1337Met) n.4594G>T c.3062G>T (p.Arg1021Met) c.2552G>T (p.Arg851Met) c.*3008G>T (n.*3008G>T) c.4406G>T (p.Arg1469Met) c.4388G>T (p.Arg1463Met) | |
| 22 | g.50722243G>A | CA515264880 | SHANK3 | c.4011G>A (p.Arg1337=) n.4595G>A c.3063G>A (p.Arg1021=) c.2553G>A (p.Arg851=) c.*3009G>A (n.*3009G>A) c.4407G>A (p.Arg1469=) c.4389G>A (p.Arg1463=) | gnomAD v4 |
| 22 | g.50722243G>C | CA515264878 | SHANK3 | c.4011G>C (p.Arg1337Ser) n.4595G>C c.3063G>C (p.Arg1021Ser) c.2553G>C (p.Arg851Ser) c.*3009G>C (n.*3009G>C) c.4407G>C (p.Arg1469Ser) c.4389G>C (p.Arg1463Ser) | |
| 22 | g.50722243G>T | CA515264877 | SHANK3 | c.4011G>T (p.Arg1337Ser) n.4595G>T c.3063G>T (p.Arg1021Ser) c.2553G>T (p.Arg851Ser) c.*3009G>T (n.*3009G>T) c.4407G>T (p.Arg1469Ser) c.4389G>T (p.Arg1463Ser) | |
| 22 | g.50722244T>A | CA515264881 | SHANK3 | c.4012T>A (p.Ser1338Thr) n.4596T>A c.3064T>A (p.Ser1022Thr) c.2554T>A (p.Ser852Thr) c.*3010T>A (n.*3010T>A) c.4408T>A (p.Ser1470Thr) c.4390T>A (p.Ser1464Thr) | |
| 22 | g.50722244T>C | CA515264882 | SHANK3 | c.4012T>C (p.Ser1338Pro) n.4596T>C c.3064T>C (p.Ser1022Pro) c.2554T>C (p.Ser852Pro) c.*3010T>C (n.*3010T>C) c.4408T>C (p.Ser1470Pro) c.4390T>C (p.Ser1464Pro) | |
| 22 | g.50722244T>G | CA515264883 | SHANK3 | c.4012T>G (p.Ser1338Ala) n.4596T>G c.3064T>G (p.Ser1022Ala) c.2554T>G (p.Ser852Ala) c.*3010T>G (n.*3010T>G) c.4408T>G (p.Ser1470Ala) c.4390T>G (p.Ser1464Ala) | gnomAD v4 |
| 22 | g.50722245C>A | CA515264884 | SHANK3 | c.4013C>A (p.Ser1338Tyr) n.4597C>A c.3065C>A (p.Ser1022Tyr) c.2555C>A (p.Ser852Tyr) c.*3011C>A (n.*3011C>A) c.4409C>A (p.Ser1470Tyr) c.4391C>A (p.Ser1464Tyr) | |
| 22 | g.50722245C= | CA2411008698 | SHANK3 | c.4013C= (p.Ser1338=) n.4597C= c.3065C= (p.Ser1022=) c.2555C= (p.Ser852=) c.*3011C= (n.*3011C=) c.4409C= (p.Ser1470=) c.4391C= (p.Ser1464=) | |
| 22 | g.50722245C>G | CA515264885 | SHANK3 | c.4013C>G (p.Ser1338Cys) n.4597C>G c.3065C>G (p.Ser1022Cys) c.2555C>G (p.Ser852Cys) c.*3011C>G (n.*3011C>G) c.4409C>G (p.Ser1470Cys) c.4391C>G (p.Ser1464Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722245C>T | CA515264886 | SHANK3 | c.4013C>T (p.Ser1338Phe) n.4597C>T c.3065C>T (p.Ser1022Phe) c.2555C>T (p.Ser852Phe) c.*3011C>T (n.*3011C>T) c.4409C>T (p.Ser1470Phe) c.4391C>T (p.Ser1464Phe) | |
| 22 | g.50722246C>A | CA515264887 | SHANK3 | c.4014C>A (p.Ser1338=) n.4598C>A c.3066C>A (p.Ser1022=) c.2556C>A (p.Ser852=) c.*3012C>A (n.*3012C>A) c.4410C>A (p.Ser1470=) c.4392C>A (p.Ser1464=) | |
| 22 | g.50722246C>G | CA515264889 | SHANK3 | c.4014C>G (p.Ser1338=) n.4598C>G c.3066C>G (p.Ser1022=) c.2556C>G (p.Ser852=) c.*3012C>G (n.*3012C>G) c.4410C>G (p.Ser1470=) c.4392C>G (p.Ser1464=) | |
| 22 | g.50722246C>T | CA515264888 | SHANK3 | c.4014C>T (p.Ser1338=) n.4598C>T c.3066C>T (p.Ser1022=) c.2556C>T (p.Ser852=) c.*3012C>T (n.*3012C>T) c.4410C>T (p.Ser1470=) c.4392C>T (p.Ser1464=) | gnomAD v4 |
| 22 | g.50722247A>C | CA515264891 | SHANK3 | c.4015A>C (p.Lys1339Gln) n.4599A>C c.3067A>C (p.Lys1023Gln) c.2557A>C (p.Lys853Gln) c.*3013A>C (n.*3013A>C) c.4411A>C (p.Lys1471Gln) c.4393A>C (p.Lys1465Gln) | |
| 22 | g.50722247A>G | CA515264894 | SHANK3 | c.4015A>G (p.Lys1339Glu) n.4599A>G c.3067A>G (p.Lys1023Glu) c.2557A>G (p.Lys853Glu) c.*3013A>G (n.*3013A>G) c.4411A>G (p.Lys1471Glu) c.4393A>G (p.Lys1465Glu) | |
| 22 | g.50722247A>T | CA515264895 | SHANK3 | c.4015A>T (p.Lys1339Ter) n.4599A>T c.3067A>T (p.Lys1023Ter) c.2557A>T (p.Lys853Ter) c.*3013A>T (n.*3013A>T) c.4411A>T (p.Lys1471Ter) c.4393A>T (p.Lys1465Ter) |