| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721497A>C | CA515262644 | SHANK3 | c.3265A>C (p.Ser1089Arg) n.3849A>C c.2317A>C (p.Ser773Arg) c.1807A>C (p.Ser603Arg) c.*2263A>C (n.*2263A>C) c.3661A>C (p.Ser1221Arg) c.3643A>C (p.Ser1215Arg) | |
| 22 | g.50721497A>G | CA515262645 | SHANK3 | c.3265A>G (p.Ser1089Gly) n.3849A>G c.2317A>G (p.Ser773Gly) c.1807A>G (p.Ser603Gly) c.*2263A>G (n.*2263A>G) c.3661A>G (p.Ser1221Gly) c.3643A>G (p.Ser1215Gly) | |
| 22 | g.50721497A>T | CA515262647 | SHANK3 | c.3265A>T (p.Ser1089Cys) n.3849A>T c.2317A>T (p.Ser773Cys) c.1807A>T (p.Ser603Cys) c.*2263A>T (n.*2263A>T) c.3661A>T (p.Ser1221Cys) c.3643A>T (p.Ser1215Cys) | |
| 22 | g.50721498G>A | CA515262649 | SHANK3 | c.3266G>A (p.Ser1089Asn) n.3850G>A c.2318G>A (p.Ser773Asn) c.1808G>A (p.Ser603Asn) c.*2264G>A (n.*2264G>A) c.3662G>A (p.Ser1221Asn) c.3644G>A (p.Ser1215Asn) | |
| 22 | g.50721498G>C | CA515262651 | SHANK3 | c.3266G>C (p.Ser1089Thr) n.3850G>C c.2318G>C (p.Ser773Thr) c.1808G>C (p.Ser603Thr) c.*2264G>C (n.*2264G>C) c.3662G>C (p.Ser1221Thr) c.3644G>C (p.Ser1215Thr) | |
| 22 | g.50721498G>T | CA515262652 | SHANK3 | c.3266G>T (p.Ser1089Ile) n.3850G>T c.2318G>T (p.Ser773Ile) c.1808G>T (p.Ser603Ile) c.*2264G>T (n.*2264G>T) c.3662G>T (p.Ser1221Ile) c.3644G>T (p.Ser1215Ile) | |
| 22 | g.50721499C>A | CA515262653 | SHANK3 | c.3267C>A (p.Ser1089Arg) n.3851C>A c.2319C>A (p.Ser773Arg) c.1809C>A (p.Ser603Arg) c.*2265C>A (n.*2265C>A) c.3663C>A (p.Ser1221Arg) c.3645C>A (p.Ser1215Arg) | |
| 22 | g.50721499C= | CA2411008280 | SHANK3 | c.3267C= (p.Ser1089=) n.3851C= c.2319C= (p.Ser773=) c.1809C= (p.Ser603=) c.*2265C= (n.*2265C=) c.3663C= (p.Ser1221=) c.3645C= (p.Ser1215=) | |
| 22 | g.50721499C>G | CA325579314 | SHANK3 | c.3267C>G (p.Ser1089Arg) n.3851C>G c.2319C>G (p.Ser773Arg) c.1809C>G (p.Ser603Arg) c.*2265C>G (n.*2265C>G) c.3663C>G (p.Ser1221Arg) c.3645C>G (p.Ser1215Arg) | dbSNP |
| 22 | g.50721499C>T | CA515262654 | SHANK3 | c.3267C>T (p.Ser1089=) n.3851C>T c.2319C>T (p.Ser773=) c.1809C>T (p.Ser603=) c.*2265C>T (n.*2265C>T) c.3663C>T (p.Ser1221=) c.3645C>T (p.Ser1215=) | dbSNP gnomAD v4 |
| 22 | g.50721500A= | CA2411008281 | SHANK3 | c.3268A= (p.Arg1090=) n.3852A= c.2320A= (p.Arg774=) c.1810A= (p.Arg604=) c.*2266A= (n.*2266A=) c.3664A= (p.Arg1222=) c.3646A= (p.Arg1216=) | |
| 22 | g.50721500A>C | CA515262655 | SHANK3 | c.3268A>C (p.Arg1090=) n.3852A>C c.2320A>C (p.Arg774=) c.1810A>C (p.Arg604=) c.*2266A>C (n.*2266A>C) c.3664A>C (p.Arg1222=) c.3646A>C (p.Arg1216=) | |
| 22 | g.50721500A>G | CA325579316 | SHANK3 | c.3268A>G (p.Arg1090Gly) n.3852A>G c.2320A>G (p.Arg774Gly) c.1810A>G (p.Arg604Gly) c.*2266A>G (n.*2266A>G) c.3664A>G (p.Arg1222Gly) c.3646A>G (p.Arg1216Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721500A>T | CA515262656 | SHANK3 | c.3268A>T (p.Arg1090Trp) n.3852A>T c.2320A>T (p.Arg774Trp) c.1810A>T (p.Arg604Trp) c.*2266A>T (n.*2266A>T) c.3664A>T (p.Arg1222Trp) c.3646A>T (p.Arg1216Trp) | |
| 22 | g.50721501G>A | CA515262657 | SHANK3 | c.3269G>A (p.Arg1090Lys) n.3853G>A c.2321G>A (p.Arg774Lys) c.1811G>A (p.Arg604Lys) c.*2267G>A (n.*2267G>A) c.3665G>A (p.Arg1222Lys) c.3647G>A (p.Arg1216Lys) | gnomAD v4 |
| 22 | g.50721501G>C | CA515262658 | SHANK3 | c.3269G>C (p.Arg1090Thr) n.3853G>C c.2321G>C (p.Arg774Thr) c.1811G>C (p.Arg604Thr) c.*2267G>C (n.*2267G>C) c.3665G>C (p.Arg1222Thr) c.3647G>C (p.Arg1216Thr) | gnomAD v4 |
| 22 | g.50721501G>T | CA515262659 | SHANK3 | c.3269G>T (p.Arg1090Met) n.3853G>T c.2321G>T (p.Arg774Met) c.1811G>T (p.Arg604Met) c.*2267G>T (n.*2267G>T) c.3665G>T (p.Arg1222Met) c.3647G>T (p.Arg1216Met) | |
| 22 | g.50721502G>A | CA515262660 | SHANK3 | c.3270G>A (p.Arg1090=) n.3854G>A c.2322G>A (p.Arg774=) c.1812G>A (p.Arg604=) c.*2268G>A (n.*2268G>A) c.3666G>A (p.Arg1222=) c.3648G>A (p.Arg1216=) | |
| 22 | g.50721502G>C | CA515262662 | SHANK3 | c.3270G>C (p.Arg1090Ser) n.3854G>C c.2322G>C (p.Arg774Ser) c.1812G>C (p.Arg604Ser) c.*2268G>C (n.*2268G>C) c.3666G>C (p.Arg1222Ser) c.3648G>C (p.Arg1216Ser) | |
| 22 | g.50721502G>T | CA515262663 | SHANK3 | c.3270G>T (p.Arg1090Ser) n.3854G>T c.2322G>T (p.Arg774Ser) c.1812G>T (p.Arg604Ser) c.*2268G>T (n.*2268G>T) c.3666G>T (p.Arg1222Ser) c.3648G>T (p.Arg1216Ser) | gnomAD v4 |
| 22 | g.50721503C>A | CA515262666 | SHANK3 | c.3271C>A (p.Leu1091Met) n.3855C>A c.2323C>A (p.Leu775Met) c.1813C>A (p.Leu605Met) c.*2269C>A (n.*2269C>A) c.3667C>A (p.Leu1223Met) c.3649C>A (p.Leu1217Met) | |
| 22 | g.50721503C= | CA2411008282 | SHANK3 | c.3271C= (p.Leu1091=) n.3855C= c.2323C= (p.Leu775=) c.1813C= (p.Leu605=) c.*2269C= (n.*2269C=) c.3667C= (p.Leu1223=) c.3649C= (p.Leu1217=) | |
| 22 | g.50721503C>G | CA515262668 | SHANK3 | c.3271C>G (p.Leu1091Val) n.3855C>G c.2323C>G (p.Leu775Val) c.1813C>G (p.Leu605Val) c.*2269C>G (n.*2269C>G) c.3667C>G (p.Leu1223Val) c.3649C>G (p.Leu1217Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721503C>T | CA515262669 | SHANK3 | c.3271C>T (p.Leu1091=) n.3855C>T c.2323C>T (p.Leu775=) c.1813C>T (p.Leu605=) c.*2269C>T (n.*2269C>T) c.3667C>T (p.Leu1223=) c.3649C>T (p.Leu1217=) | |
| 22 | g.50721504T>A | CA515262670 | SHANK3 | c.3272T>A (p.Leu1091Gln) n.3856T>A c.2324T>A (p.Leu775Gln) c.1814T>A (p.Leu605Gln) c.*2270T>A (n.*2270T>A) c.3668T>A (p.Leu1223Gln) c.3650T>A (p.Leu1217Gln) | |
| 22 | g.50721504T>C | CA515262671 | SHANK3 | c.3272T>C (p.Leu1091Pro) n.3856T>C c.2324T>C (p.Leu775Pro) c.1814T>C (p.Leu605Pro) c.*2270T>C (n.*2270T>C) c.3668T>C (p.Leu1223Pro) c.3650T>C (p.Leu1217Pro) | |
| 22 | g.50721504T>G | CA515262672 | SHANK3 | c.3272T>G (p.Leu1091Arg) n.3856T>G c.2324T>G (p.Leu775Arg) c.1814T>G (p.Leu605Arg) c.*2270T>G (n.*2270T>G) c.3668T>G (p.Leu1223Arg) c.3650T>G (p.Leu1217Arg) | dbSNP gnomAD v4 |
| 22 | g.50721504T= | CA2411008284 | SHANK3 | c.3272T= (p.Leu1091=) n.3856T= c.2324T= (p.Leu775=) c.1814T= (p.Leu605=) c.*2270T= (n.*2270T=) c.3668T= (p.Leu1223=) c.3650T= (p.Leu1217=) | |
| 22 | g.50721504_50721507delinsTGGG | CA2411008283 | SHANK3 | c.3272_3275delinsTGGG (p.Leu1091=) n.3856_3859delinsTGGG c.2324_2327delinsTGGG (p.Leu775=) c.1814_1817delinsTGGG (p.Leu605=) c.*2270_*2273delinsTGGG (n.*2270_*2273delinsTGGG) c.3668_3671delinsTGGG (p.Leu1223=) c.3650_3653delinsTGGG (p.Leu1217=) | |
| 22 | g.50721505G>A | CA515262675 | SHANK3 | c.3273G>A (p.Leu1091=) n.3857G>A c.2325G>A (p.Leu775=) c.1815G>A (p.Leu605=) c.*2271G>A (n.*2271G>A) c.3669G>A (p.Leu1223=) c.3651G>A (p.Leu1217=) | gnomAD v4 |
| 22 | g.50721505G>C | CA10326101 | SHANK3 | c.3273G>C (p.Leu1091=) n.3857G>C c.2325G>C (p.Leu775=) c.1815G>C (p.Leu605=) c.*2271G>C (n.*2271G>C) c.3669G>C (p.Leu1223=) c.3651G>C (p.Leu1217=) | dbSNP ExAC gnomAD v2 |
| 22 | g.50721505G= | CA2411008286 | SHANK3 | c.3273G= (p.Leu1091=) n.3857G= c.2325G= (p.Leu775=) c.1815G= (p.Leu605=) c.*2271G= (n.*2271G=) c.3669G= (p.Leu1223=) c.3651G= (p.Leu1217=) | |
| 22 | g.50721505G>T | CA515262674 | SHANK3 | c.3273G>T (p.Leu1091=) n.3857G>T c.2325G>T (p.Leu775=) c.1815G>T (p.Leu605=) c.*2271G>T (n.*2271G>T) c.3669G>T (p.Leu1223=) c.3651G>T (p.Leu1217=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721512dup | CA204839 | SHANK3 | c.3280dup (p.Ala1094GlyfsTer?) n.3864dup c.2332dup (p.Ala778GlyfsTer?) c.1822dup (p.Ala608GlyfsTer?) c.*2278dup (n.*2278dup) c.3676dup (p.Ala1226GlyfsTer?) c.3658dup (p.Ala1220GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 22 | g.50721511_50721512dup | CA645619943 | SHANK3 | c.3279_3280dup (p.Ala1094GlyfsTer?) n.3863_3864dup c.2331_2332dup (p.Ala778GlyfsTer?) c.1821_1822dup (p.Ala608GlyfsTer?) c.*2277_*2278dup (n.*2277_*2278dup) c.3675_3676dup (p.Ala1226GlyfsTer?) c.3657_3658dup (p.Ala1220GlyfsTer?) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721512del | CA10326100 | SHANK3 | c.3280del (p.Ala1094ProfsTer?) n.3864del c.2332del (p.Ala778ProfsTer?) c.1822del (p.Ala608ProfsTer?) c.*2278del (n.*2278del) c.3676del (p.Ala1226ProfsTer?) c.3658del (p.Ala1220ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721510_50721512del | CA2411008285 | SHANK3 | c.3278_3280del (p.Gly1093del) n.3862_3864del c.2330_2332del (p.Gly777del) c.1820_1822del (p.Gly607del) c.*2276_*2278del (n.*2276_*2278del) c.3674_3676del (p.Gly1225del) c.3656_3658del (p.Gly1219del) | dbSNP |
| 22 | g.50721506G>A | CA515262677 | SHANK3 | c.3274G>A (p.Gly1092Arg) n.3858G>A c.2326G>A (p.Gly776Arg) c.1816G>A (p.Gly606Arg) c.*2272G>A (n.*2272G>A) c.3670G>A (p.Gly1224Arg) c.3652G>A (p.Gly1218Arg) | |
| 22 | g.50721506G>C | CA10326102 | SHANK3 | c.3274G>C (p.Gly1092Arg) n.3858G>C c.2326G>C (p.Gly776Arg) c.1816G>C (p.Gly606Arg) c.*2272G>C (n.*2272G>C) c.3670G>C (p.Gly1224Arg) c.3652G>C (p.Gly1218Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721506G= | CA2411008287 | SHANK3 | c.3274G= (p.Gly1092=) n.3858G= c.2326G= (p.Gly776=) c.1816G= (p.Gly606=) c.*2272G= (n.*2272G=) c.3670G= (p.Gly1224=) c.3652G= (p.Gly1218=) | |
| 22 | g.50721506G>T | CA515262679 | SHANK3 | c.3274G>T (p.Gly1092Trp) n.3858G>T c.2326G>T (p.Gly776Trp) c.1816G>T (p.Gly606Trp) c.*2272G>T (n.*2272G>T) c.3670G>T (p.Gly1224Trp) c.3652G>T (p.Gly1218Trp) | gnomAD v4 |
| 22 | g.50721507G>A | CA10326103 | SHANK3 | c.3275G>A (p.Gly1092Glu) n.3859G>A c.2327G>A (p.Gly776Glu) c.1817G>A (p.Gly606Glu) c.*2273G>A (n.*2273G>A) c.3671G>A (p.Gly1224Glu) c.3653G>A (p.Gly1218Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721507G>C | CA515262683 | SHANK3 | c.3275G>C (p.Gly1092Ala) n.3859G>C c.2327G>C (p.Gly776Ala) c.1817G>C (p.Gly606Ala) c.*2273G>C (n.*2273G>C) c.3671G>C (p.Gly1224Ala) c.3653G>C (p.Gly1218Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721507G= | CA2411008288 | SHANK3 | c.3275G= (p.Gly1092=) n.3859G= c.2327G= (p.Gly776=) c.1817G= (p.Gly606=) c.*2273G= (n.*2273G=) c.3671G= (p.Gly1224=) c.3653G= (p.Gly1218=) | |
| 22 | g.50721507G>T | CA515262684 | SHANK3 | c.3275G>T (p.Gly1092Val) n.3859G>T c.2327G>T (p.Gly776Val) c.1817G>T (p.Gly606Val) c.*2273G>T (n.*2273G>T) c.3671G>T (p.Gly1224Val) c.3653G>T (p.Gly1218Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721507_50721508insCT | CA2517559273 | SHANK3 | c.3275_3276insCT (p.Gly1093TrpfsTer?) n.3859_3860insCT c.2327_2328insCT (p.Gly777TrpfsTer?) c.1817_1818insCT (p.Gly607TrpfsTer?) c.*2273_*2274insCT (n.*2273_*2274insCT) c.3671_3672insCT (p.Gly1225TrpfsTer?) c.3653_3654insCT (p.Gly1219TrpfsTer?) | |
| 22 | g.50721508G>A | CA515262686 | SHANK3 | c.3276G>A (p.Gly1092=) n.3860G>A c.2328G>A (p.Gly776=) c.1818G>A (p.Gly606=) c.*2274G>A (n.*2274G>A) c.3672G>A (p.Gly1224=) c.3654G>A (p.Gly1218=) | dbSNP gnomAD v2 |
| 22 | g.50721508G>C | CA515262687 | SHANK3 | c.3276G>C (p.Gly1092=) n.3860G>C c.2328G>C (p.Gly776=) c.1818G>C (p.Gly606=) c.*2274G>C (n.*2274G>C) c.3672G>C (p.Gly1224=) c.3654G>C (p.Gly1218=) | gnomAD v4 |
| 22 | g.50721508G= | CA2411008289 | SHANK3 | c.3276G= (p.Gly1092=) n.3860G= c.2328G= (p.Gly776=) c.1818G= (p.Gly606=) c.*2274G= (n.*2274G=) c.3672G= (p.Gly1224=) c.3654G= (p.Gly1218=) | |
| 22 | g.50721508G>T | CA515262685 | SHANK3 | c.3276G>T (p.Gly1092=) n.3860G>T c.2328G>T (p.Gly776=) c.1818G>T (p.Gly606=) c.*2274G>T (n.*2274G>T) c.3672G>T (p.Gly1224=) c.3654G>T (p.Gly1218=) | |
| 22 | g.50721509G>A | CA515262688 | SHANK3 | c.3277G>A (p.Gly1093Arg) n.3861G>A c.2329G>A (p.Gly777Arg) c.1819G>A (p.Gly607Arg) c.*2275G>A (n.*2275G>A) c.3673G>A (p.Gly1225Arg) c.3655G>A (p.Gly1219Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721509G>C | CA515262689 | SHANK3 | c.3277G>C (p.Gly1093Arg) n.3861G>C c.2329G>C (p.Gly777Arg) c.1819G>C (p.Gly607Arg) c.*2275G>C (n.*2275G>C) c.3673G>C (p.Gly1225Arg) c.3655G>C (p.Gly1219Arg) | |
| 22 | g.50721509G= | CA2411008290 | SHANK3 | c.3277G= (p.Gly1093=) n.3861G= c.2329G= (p.Gly777=) c.1819G= (p.Gly607=) c.*2275G= (n.*2275G=) c.3673G= (p.Gly1225=) c.3655G= (p.Gly1219=) | |
| 22 | g.50721509G>T | CA515262691 | SHANK3 | c.3277G>T (p.Gly1093Trp) n.3861G>T c.2329G>T (p.Gly777Trp) c.1819G>T (p.Gly607Trp) c.*2275G>T (n.*2275G>T) c.3673G>T (p.Gly1225Trp) c.3655G>T (p.Gly1219Trp) | |
| 22 | g.50721510G>A | CA10326104 | SHANK3 | c.3278G>A (p.Gly1093Glu) n.3862G>A c.2330G>A (p.Gly777Glu) c.1820G>A (p.Gly607Glu) c.*2276G>A (n.*2276G>A) c.3674G>A (p.Gly1225Glu) c.3656G>A (p.Gly1219Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721510G>C | CA515262695 | SHANK3 | c.3278G>C (p.Gly1093Ala) n.3862G>C c.2330G>C (p.Gly777Ala) c.1820G>C (p.Gly607Ala) c.*2276G>C (n.*2276G>C) c.3674G>C (p.Gly1225Ala) c.3656G>C (p.Gly1219Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721510G= | CA2411008291 | SHANK3 | c.3278G= (p.Gly1093=) n.3862G= c.2330G= (p.Gly777=) c.1820G= (p.Gly607=) c.*2276G= (n.*2276G=) c.3674G= (p.Gly1225=) c.3656G= (p.Gly1219=) | |
| 22 | g.50721510G>T | CA515262697 | SHANK3 | c.3278G>T (p.Gly1093Val) n.3862G>T c.2330G>T (p.Gly777Val) c.1820G>T (p.Gly607Val) c.*2276G>T (n.*2276G>T) c.3674G>T (p.Gly1225Val) c.3656G>T (p.Gly1219Val) | gnomAD v4 |
| 22 | g.50721511G>A | CA10326106 | SHANK3 | c.3279G>A (p.Gly1093=) n.3863G>A c.2331G>A (p.Gly777=) c.1821G>A (p.Gly607=) c.*2277G>A (n.*2277G>A) c.3675G>A (p.Gly1225=) c.3657G>A (p.Gly1219=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721511G>C | CA515262698 | SHANK3 | c.3279G>C (p.Gly1093=) n.3863G>C c.2331G>C (p.Gly777=) c.1821G>C (p.Gly607=) c.*2277G>C (n.*2277G>C) c.3675G>C (p.Gly1225=) c.3657G>C (p.Gly1219=) | dbSNP gnomAD v4 |
| 22 | g.50721511G= | CA2411008292 | SHANK3 | c.3279G= (p.Gly1093=) n.3863G= c.2331G= (p.Gly777=) c.1821G= (p.Gly607=) c.*2277G= (n.*2277G=) c.3675G= (p.Gly1225=) c.3657G= (p.Gly1219=) | |
| 22 | g.50721511G>T | CA10326105 | SHANK3 | c.3279G>T (p.Gly1093=) n.3863G>T c.2331G>T (p.Gly777=) c.1821G>T (p.Gly607=) c.*2277G>T (n.*2277G>T) c.3675G>T (p.Gly1225=) c.3657G>T (p.Gly1219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721512G>A | CA515262699 | SHANK3 | c.3280G>A (p.Ala1094Thr) n.3864G>A c.2332G>A (p.Ala778Thr) c.1822G>A (p.Ala608Thr) c.*2278G>A (n.*2278G>A) c.3676G>A (p.Ala1226Thr) c.3658G>A (p.Ala1220Thr) | dbSNP gnomAD v4 |
| 22 | g.50721512G>C | CA515262700 | SHANK3 | c.3280G>C (p.Ala1094Pro) n.3864G>C c.2332G>C (p.Ala778Pro) c.1822G>C (p.Ala608Pro) c.*2278G>C (n.*2278G>C) c.3676G>C (p.Ala1226Pro) c.3658G>C (p.Ala1220Pro) | |
| 22 | g.50721512G= | CA2411008293 | SHANK3 | c.3280G= (p.Ala1094=) n.3864G= c.2332G= (p.Ala778=) c.1822G= (p.Ala608=) c.*2278G= (n.*2278G=) c.3676G= (p.Ala1226=) c.3658G= (p.Ala1220=) | |
| 22 | g.50721512G>T | CA515262701 | SHANK3 | c.3280G>T (p.Ala1094Ser) n.3864G>T c.2332G>T (p.Ala778Ser) c.1822G>T (p.Ala608Ser) c.*2278G>T (n.*2278G>T) c.3676G>T (p.Ala1226Ser) c.3658G>T (p.Ala1220Ser) | gnomAD v4 |
| 22 | g.50721513C>A | CA515262707 | SHANK3 | c.3281C>A (p.Ala1094Asp) n.3865C>A c.2333C>A (p.Ala778Asp) c.1823C>A (p.Ala608Asp) c.*2279C>A (n.*2279C>A) c.3677C>A (p.Ala1226Asp) c.3659C>A (p.Ala1220Asp) | |
| 22 | g.50721513C= | CA2411008294 | SHANK3 | c.3281C= (p.Ala1094=) n.3865C= c.2333C= (p.Ala778=) c.1823C= (p.Ala608=) c.*2279C= (n.*2279C=) c.3677C= (p.Ala1226=) c.3659C= (p.Ala1220=) | |
| 22 | g.50721513C>G | CA515262703 | SHANK3 | c.3281C>G (p.Ala1094Gly) n.3865C>G c.2333C>G (p.Ala778Gly) c.1823C>G (p.Ala608Gly) c.*2279C>G (n.*2279C>G) c.3677C>G (p.Ala1226Gly) c.3659C>G (p.Ala1220Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721513C>T | CA515262705 | SHANK3 | c.3281C>T (p.Ala1094Val) n.3865C>T c.2333C>T (p.Ala778Val) c.1823C>T (p.Ala608Val) c.*2279C>T (n.*2279C>T) c.3677C>T (p.Ala1226Val) c.3659C>T (p.Ala1220Val) | gnomAD v4 |
| 22 | g.50721514C>A | CA515262708 | SHANK3 | c.3282C>A (p.Ala1094=) n.3866C>A c.2334C>A (p.Ala778=) c.1824C>A (p.Ala608=) c.*2280C>A (n.*2280C>A) c.3678C>A (p.Ala1226=) c.3660C>A (p.Ala1220=) | gnomAD v4 |
| 22 | g.50721514C= | CA2411008295 | SHANK3 | c.3282C= (p.Ala1094=) n.3866C= c.2334C= (p.Ala778=) c.1824C= (p.Ala608=) c.*2280C= (n.*2280C=) c.3678C= (p.Ala1226=) c.3660C= (p.Ala1220=) | |
| 22 | g.50721514C>G | CA515262709 | SHANK3 | c.3282C>G (p.Ala1094=) n.3866C>G c.2334C>G (p.Ala778=) c.1824C>G (p.Ala608=) c.*2280C>G (n.*2280C>G) c.3678C>G (p.Ala1226=) c.3660C>G (p.Ala1220=) | |
| 22 | g.50721514C>T | CA515262710 | SHANK3 | c.3282C>T (p.Ala1094=) n.3866C>T c.2334C>T (p.Ala778=) c.1824C>T (p.Ala608=) c.*2280C>T (n.*2280C>T) c.3678C>T (p.Ala1226=) c.3660C>T (p.Ala1220=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721515G>A | CA10326107 | SHANK3 | c.3283G>A (p.Glu1095Lys) n.3867G>A c.2335G>A (p.Glu779Lys) c.1825G>A (p.Glu609Lys) c.*2281G>A (n.*2281G>A) c.3679G>A (p.Glu1227Lys) c.3661G>A (p.Glu1221Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721515G>C | CA515262711 | SHANK3 | c.3283G>C (p.Glu1095Gln) n.3867G>C c.2335G>C (p.Glu779Gln) c.1825G>C (p.Glu609Gln) c.*2281G>C (n.*2281G>C) c.3679G>C (p.Glu1227Gln) c.3661G>C (p.Glu1221Gln) | |
| 22 | g.50721515G= | CA2411008296 | SHANK3 | c.3283G= (p.Glu1095=) n.3867G= c.2335G= (p.Glu779=) c.1825G= (p.Glu609=) c.*2281G= (n.*2281G=) c.3679G= (p.Glu1227=) c.3661G= (p.Glu1221=) | |
| 22 | g.50721515G>T | CA515262712 | SHANK3 | c.3283G>T (p.Glu1095Ter) n.3867G>T c.2335G>T (p.Glu779Ter) c.1825G>T (p.Glu609Ter) c.*2281G>T (n.*2281G>T) c.3679G>T (p.Glu1227Ter) c.3661G>T (p.Glu1221Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721516A>C | CA515262713 | SHANK3 | c.3284A>C (p.Glu1095Ala) n.3868A>C c.2336A>C (p.Glu779Ala) c.1826A>C (p.Glu609Ala) c.*2282A>C (n.*2282A>C) c.3680A>C (p.Glu1227Ala) c.3662A>C (p.Glu1221Ala) | |
| 22 | g.50721516A>G | CA515262714 | SHANK3 | c.3284A>G (p.Glu1095Gly) n.3868A>G c.2336A>G (p.Glu779Gly) c.1826A>G (p.Glu609Gly) c.*2282A>G (n.*2282A>G) c.3680A>G (p.Glu1227Gly) c.3662A>G (p.Glu1221Gly) | |
| 22 | g.50721516A>T | CA515262717 | SHANK3 | c.3284A>T (p.Glu1095Val) n.3868A>T c.2336A>T (p.Glu779Val) c.1826A>T (p.Glu609Val) c.*2282A>T (n.*2282A>T) c.3680A>T (p.Glu1227Val) c.3662A>T (p.Glu1221Val) | |
| 22 | g.50721517A= | CA2411008298 | SHANK3 | c.3285A= (p.Glu1095=) n.3869A= c.2337A= (p.Glu779=) c.1827A= (p.Glu609=) c.*2283A= (n.*2283A=) c.3681A= (p.Glu1227=) c.3663A= (p.Glu1221=) | |
| 22 | g.50721517A>C | CA515262718 | SHANK3 | c.3285A>C (p.Glu1095Asp) n.3869A>C c.2337A>C (p.Glu779Asp) c.1827A>C (p.Glu609Asp) c.*2283A>C (n.*2283A>C) c.3681A>C (p.Glu1227Asp) c.3663A>C (p.Glu1221Asp) | |
| 22 | g.50721517A>G | CA515262719 | SHANK3 | c.3285A>G (p.Glu1095=) n.3869A>G c.2337A>G (p.Glu779=) c.1827A>G (p.Glu609=) c.*2283A>G (n.*2283A>G) c.3681A>G (p.Glu1227=) c.3663A>G (p.Glu1221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721517A>T | CA515262720 | SHANK3 | c.3285A>T (p.Glu1095Asp) n.3869A>T c.2337A>T (p.Glu779Asp) c.1827A>T (p.Glu609Asp) c.*2283A>T (n.*2283A>T) c.3681A>T (p.Glu1227Asp) c.3663A>T (p.Glu1221Asp) | gnomAD v4 |
| 22 | g.50721517_50721520delinsAGAG | CA2411008297 | SHANK3 | c.3285_3288delinsAGAG (p.Glu1095=) n.3869_3872delinsAGAG c.2337_2340delinsAGAG (p.Glu779=) c.1827_1830delinsAGAG (p.Glu609=) c.*2283_*2286delinsAGAG (n.*2283_*2286delinsAGAG) c.3681_3684delinsAGAG (p.Glu1227=) c.3663_3666delinsAGAG (p.Glu1221=) | |
| 22 | g.50721518G>A | CA515262723 | SHANK3 | c.3286G>A (p.Glu1096Lys) n.3870G>A c.2338G>A (p.Glu780Lys) c.1828G>A (p.Glu610Lys) c.*2284G>A (n.*2284G>A) c.3682G>A (p.Glu1228Lys) c.3664G>A (p.Glu1222Lys) | dbSNP gnomAD v4 |
| 22 | g.50721518G>C | CA515262724 | SHANK3 | c.3286G>C (p.Glu1096Gln) n.3870G>C c.2338G>C (p.Glu780Gln) c.1828G>C (p.Glu610Gln) c.*2284G>C (n.*2284G>C) c.3682G>C (p.Glu1228Gln) c.3664G>C (p.Glu1222Gln) | |
| 22 | g.50721518G= | CA2411008299 | SHANK3 | c.3286G= (p.Glu1096=) n.3870G= c.2338G= (p.Glu780=) c.1828G= (p.Glu610=) c.*2284G= (n.*2284G=) c.3682G= (p.Glu1228=) c.3664G= (p.Glu1222=) | |
| 22 | g.50721518G>T | CA515262722 | SHANK3 | c.3286G>T (p.Glu1096Ter) n.3870G>T c.2338G>T (p.Glu780Ter) c.1828G>T (p.Glu610Ter) c.*2284G>T (n.*2284G>T) c.3682G>T (p.Glu1228Ter) c.3664G>T (p.Glu1222Ter) | gnomAD v4 |
| 22 | g.50721521_50721523del | CA10326108 | SHANK3 | c.3289_3291del (p.Glu1097del) n.3873_3875del c.2341_2343del (p.Glu781del) c.1831_1833del (p.Glu611del) c.*2287_*2289del (n.*2287_*2289del) c.3685_3687del (p.Glu1229del) c.3667_3669del (p.Glu1223del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721519A>C | CA515262727 | SHANK3 | c.3287A>C (p.Glu1096Ala) n.3871A>C c.2339A>C (p.Glu780Ala) c.1829A>C (p.Glu610Ala) c.*2285A>C (n.*2285A>C) c.3683A>C (p.Glu1228Ala) c.3665A>C (p.Glu1222Ala) | |
| 22 | g.50721519A>G | CA515262725 | SHANK3 | c.3287A>G (p.Glu1096Gly) n.3871A>G c.2339A>G (p.Glu780Gly) c.1829A>G (p.Glu610Gly) c.*2285A>G (n.*2285A>G) c.3683A>G (p.Glu1228Gly) c.3665A>G (p.Glu1222Gly) | |
| 22 | g.50721519A>T | CA515262729 | SHANK3 | c.3287A>T (p.Glu1096Val) n.3871A>T c.2339A>T (p.Glu780Val) c.1829A>T (p.Glu610Val) c.*2285A>T (n.*2285A>T) c.3683A>T (p.Glu1228Val) c.3665A>T (p.Glu1222Val) | |
| 22 | g.50721520G>A | CA515262730 | SHANK3 | c.3288G>A (p.Glu1096=) n.3872G>A c.2340G>A (p.Glu780=) c.1830G>A (p.Glu610=) c.*2286G>A (n.*2286G>A) c.3684G>A (p.Glu1228=) c.3666G>A (p.Glu1222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721520G>C | CA515262732 | SHANK3 | c.3288G>C (p.Glu1096Asp) n.3872G>C c.2340G>C (p.Glu780Asp) c.1830G>C (p.Glu610Asp) c.*2286G>C (n.*2286G>C) c.3684G>C (p.Glu1228Asp) c.3666G>C (p.Glu1222Asp) | |
| 22 | g.50721520G= | CA2411008300 | SHANK3 | c.3288G= (p.Glu1096=) n.3872G= c.2340G= (p.Glu780=) c.1830G= (p.Glu610=) c.*2286G= (n.*2286G=) c.3684G= (p.Glu1228=) c.3666G= (p.Glu1222=) | |
| 22 | g.50721520G>T | CA515262733 | SHANK3 | c.3288G>T (p.Glu1096Asp) n.3872G>T c.2340G>T (p.Glu780Asp) c.1830G>T (p.Glu610Asp) c.*2286G>T (n.*2286G>T) c.3684G>T (p.Glu1228Asp) c.3666G>T (p.Glu1222Asp) | gnomAD v4 |
| 22 | g.50721521G>A | CA515262734 | SHANK3 | c.3289G>A (p.Glu1097Lys) n.3873G>A c.2341G>A (p.Glu781Lys) c.1831G>A (p.Glu611Lys) c.*2287G>A (n.*2287G>A) c.3685G>A (p.Glu1229Lys) c.3667G>A (p.Glu1223Lys) | gnomAD v4 |
| 22 | g.50721521G>C | CA515262735 | SHANK3 | c.3289G>C (p.Glu1097Gln) n.3873G>C c.2341G>C (p.Glu781Gln) c.1831G>C (p.Glu611Gln) c.*2287G>C (n.*2287G>C) c.3685G>C (p.Glu1229Gln) c.3667G>C (p.Glu1223Gln) | |
| 22 | g.50721521G>T | CA515262736 | SHANK3 | c.3289G>T (p.Glu1097Ter) n.3873G>T c.2341G>T (p.Glu781Ter) c.1831G>T (p.Glu611Ter) c.*2287G>T (n.*2287G>T) c.3685G>T (p.Glu1229Ter) c.3667G>T (p.Glu1223Ter) | gnomAD v4 |
| 22 | g.50721522A>C | CA515262737 | SHANK3 | c.3290A>C (p.Glu1097Ala) n.3874A>C c.2342A>C (p.Glu781Ala) c.1832A>C (p.Glu611Ala) c.*2288A>C (n.*2288A>C) c.3686A>C (p.Glu1229Ala) c.3668A>C (p.Glu1223Ala) | |
| 22 | g.50721522A>G | CA515262738 | SHANK3 | c.3290A>G (p.Glu1097Gly) n.3874A>G c.2342A>G (p.Glu781Gly) c.1832A>G (p.Glu611Gly) c.*2288A>G (n.*2288A>G) c.3686A>G (p.Glu1229Gly) c.3668A>G (p.Glu1223Gly) | |
| 22 | g.50721522A>T | CA515262740 | SHANK3 | c.3290A>T (p.Glu1097Val) n.3874A>T c.2342A>T (p.Glu781Val) c.1832A>T (p.Glu611Val) c.*2288A>T (n.*2288A>T) c.3686A>T (p.Glu1229Val) c.3668A>T (p.Glu1223Val) | gnomAD v4 |
| 22 | g.50721523G>A | CA515262741 | SHANK3 | c.3291G>A (p.Glu1097=) n.3875G>A c.2343G>A (p.Glu781=) c.1833G>A (p.Glu611=) c.*2289G>A (n.*2289G>A) c.3687G>A (p.Glu1229=) c.3669G>A (p.Glu1223=) | |
| 22 | g.50721523G>C | CA515262742 | SHANK3 | c.3291G>C (p.Glu1097Asp) n.3875G>C c.2343G>C (p.Glu781Asp) c.1833G>C (p.Glu611Asp) c.*2289G>C (n.*2289G>C) c.3687G>C (p.Glu1229Asp) c.3669G>C (p.Glu1223Asp) | |
| 22 | g.50721523G>T | CA515262743 | SHANK3 | c.3291G>T (p.Glu1097Asp) n.3875G>T c.2343G>T (p.Glu781Asp) c.1833G>T (p.Glu611Asp) c.*2289G>T (n.*2289G>T) c.3687G>T (p.Glu1229Asp) c.3669G>T (p.Glu1223Asp) | |
| 22 | g.50721524C>A | CA515262747 | SHANK3 | c.3292C>A (p.Arg1098Ser) n.3876C>A c.2344C>A (p.Arg782Ser) c.1834C>A (p.Arg612Ser) c.*2290C>A (n.*2290C>A) c.3688C>A (p.Arg1230Ser) c.3670C>A (p.Arg1224Ser) | |
| 22 | g.50721524C= | CA2411008301 | SHANK3 | c.3292C= (p.Arg1098=) n.3876C= c.2344C= (p.Arg782=) c.1834C= (p.Arg612=) c.*2290C= (n.*2290C=) c.3688C= (p.Arg1230=) c.3670C= (p.Arg1224=) | |
| 22 | g.50721524C>G | CA10326109 | SHANK3 | c.3292C>G (p.Arg1098Gly) n.3876C>G c.2344C>G (p.Arg782Gly) c.1834C>G (p.Arg612Gly) c.*2290C>G (n.*2290C>G) c.3688C>G (p.Arg1230Gly) c.3670C>G (p.Arg1224Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721524C>T | CA515262744 | SHANK3 | c.3292C>T (p.Arg1098Cys) n.3876C>T c.2344C>T (p.Arg782Cys) c.1834C>T (p.Arg612Cys) c.*2290C>T (n.*2290C>T) c.3688C>T (p.Arg1230Cys) c.3670C>T (p.Arg1224Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721525G>A | CA10326110 | SHANK3 | c.3293G>A (p.Arg1098His) n.3877G>A c.2345G>A (p.Arg782His) c.1835G>A (p.Arg612His) c.*2291G>A (n.*2291G>A) c.3689G>A (p.Arg1230His) c.3671G>A (p.Arg1224His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721525G>C | CA515262748 | SHANK3 | c.3293G>C (p.Arg1098Pro) n.3877G>C c.2345G>C (p.Arg782Pro) c.1835G>C (p.Arg612Pro) c.*2291G>C (n.*2291G>C) c.3689G>C (p.Arg1230Pro) c.3671G>C (p.Arg1224Pro) | gnomAD v4 |
| 22 | g.50721525G= | CA2411008302 | SHANK3 | c.3293G= (p.Arg1098=) n.3877G= c.2345G= (p.Arg782=) c.1835G= (p.Arg612=) c.*2291G= (n.*2291G=) c.3689G= (p.Arg1230=) c.3671G= (p.Arg1224=) | |
| 22 | g.50721525G>T | CA515262750 | SHANK3 | c.3293G>T (p.Arg1098Leu) n.3877G>T c.2345G>T (p.Arg782Leu) c.1835G>T (p.Arg612Leu) c.*2291G>T (n.*2291G>T) c.3689G>T (p.Arg1230Leu) c.3671G>T (p.Arg1224Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721526C>A | CA515262751 | SHANK3 | c.3294C>A (p.Arg1098=) n.3878C>A c.2346C>A (p.Arg782=) c.1836C>A (p.Arg612=) c.*2292C>A (n.*2292C>A) c.3690C>A (p.Arg1230=) c.3672C>A (p.Arg1224=) | |
| 22 | g.50721526C= | CA2411008303 | SHANK3 | c.3294C= (p.Arg1098=) n.3878C= c.2346C= (p.Arg782=) c.1836C= (p.Arg612=) c.*2292C= (n.*2292C=) c.3690C= (p.Arg1230=) c.3672C= (p.Arg1224=) | |
| 22 | g.50721526C>G | CA515262752 | SHANK3 | c.3294C>G (p.Arg1098=) n.3878C>G c.2346C>G (p.Arg782=) c.1836C>G (p.Arg612=) c.*2292C>G (n.*2292C>G) c.3690C>G (p.Arg1230=) c.3672C>G (p.Arg1224=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721526C>T | CA515262753 | SHANK3 | c.3294C>T (p.Arg1098=) n.3878C>T c.2346C>T (p.Arg782=) c.1836C>T (p.Arg612=) c.*2292C>T (n.*2292C>T) c.3690C>T (p.Arg1230=) c.3672C>T (p.Arg1224=) | dbSNP gnomAD v4 |
| 22 | g.50721531_50721551dup | CA2657581049 | SHANK3 | c.3299_3319dup (p.Pro1106_Ala1107insGlyThrProGluLeuAlaPro) n.3883_3903dup c.2351_2371dup (p.Pro790_Ala791insGlyThrProGluLeuAlaPro) c.1841_1861dup (p.Pro620_Ala621insGlyThrProGluLeuAlaPro) c.*2297_*2317dup (n.*2297_*2317dup) c.3695_3715dup (p.Pro1238_Ala1239insGlyThrProGluLeuAlaPro) c.3677_3697dup (p.Pro1232_Ala1233insGlyThrProGluLeuAlaPro) | gnomAD v4 |
| 22 | g.50721527C>A | CA515262754 | SHANK3 | c.3295C>A (p.Pro1099Thr) n.3879C>A c.2347C>A (p.Pro783Thr) c.1837C>A (p.Pro613Thr) c.*2293C>A (n.*2293C>A) c.3691C>A (p.Pro1231Thr) c.3673C>A (p.Pro1225Thr) | gnomAD v4 |
| 22 | g.50721527C>G | CA515262755 | SHANK3 | c.3295C>G (p.Pro1099Ala) n.3879C>G c.2347C>G (p.Pro783Ala) c.1837C>G (p.Pro613Ala) c.*2293C>G (n.*2293C>G) c.3691C>G (p.Pro1231Ala) c.3673C>G (p.Pro1225Ala) | gnomAD v4 |
| 22 | g.50721527C>T | CA515262756 | SHANK3 | c.3295C>T (p.Pro1099Ser) n.3879C>T c.2347C>T (p.Pro783Ser) c.1837C>T (p.Pro613Ser) c.*2293C>T (n.*2293C>T) c.3691C>T (p.Pro1231Ser) c.3673C>T (p.Pro1225Ser) | gnomAD v4 |
| 22 | g.50721528C>A | CA515262757 | SHANK3 | c.3296C>A (p.Pro1099Gln) n.3880C>A c.2348C>A (p.Pro783Gln) c.1838C>A (p.Pro613Gln) c.*2294C>A (n.*2294C>A) c.3692C>A (p.Pro1231Gln) c.3674C>A (p.Pro1225Gln) | |
| 22 | g.50721528C= | CA2411008304 | SHANK3 | c.3296C= (p.Pro1099=) n.3880C= c.2348C= (p.Pro783=) c.1838C= (p.Pro613=) c.*2294C= (n.*2294C=) c.3692C= (p.Pro1231=) c.3674C= (p.Pro1225=) | |
| 22 | g.50721528C>G | CA515262758 | SHANK3 | c.3296C>G (p.Pro1099Arg) n.3880C>G c.2348C>G (p.Pro783Arg) c.1838C>G (p.Pro613Arg) c.*2294C>G (n.*2294C>G) c.3692C>G (p.Pro1231Arg) c.3674C>G (p.Pro1225Arg) | |
| 22 | g.50721528C>T | CA10326111 | SHANK3 | c.3296C>T (p.Pro1099Leu) n.3880C>T c.2348C>T (p.Pro783Leu) c.1838C>T (p.Pro613Leu) c.*2294C>T (n.*2294C>T) c.3692C>T (p.Pro1231Leu) c.3674C>T (p.Pro1225Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721529G>A | CA10326112 | SHANK3 | c.3297G>A (p.Pro1099=) n.3881G>A c.2349G>A (p.Pro783=) c.1839G>A (p.Pro613=) c.*2295G>A (n.*2295G>A) c.3693G>A (p.Pro1231=) c.3675G>A (p.Pro1225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721529G>C | CA515262761 | SHANK3 | c.3297G>C (p.Pro1099=) n.3881G>C c.2349G>C (p.Pro783=) c.1839G>C (p.Pro613=) c.*2295G>C (n.*2295G>C) c.3693G>C (p.Pro1231=) c.3675G>C (p.Pro1225=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721529G= | CA2411008305 | SHANK3 | c.3297G= (p.Pro1099=) n.3881G= c.2349G= (p.Pro783=) c.1839G= (p.Pro613=) c.*2295G= (n.*2295G=) c.3693G= (p.Pro1231=) c.3675G= (p.Pro1225=) | |
| 22 | g.50721529G>T | CA515262760 | SHANK3 | c.3297G>T (p.Pro1099=) n.3881G>T c.2349G>T (p.Pro783=) c.1839G>T (p.Pro613=) c.*2295G>T (n.*2295G>T) c.3693G>T (p.Pro1231=) c.3675G>T (p.Pro1225=) | gnomAD v4 |
| 22 | g.50721530G>A | CA515262762 | SHANK3 | c.3298G>A (p.Gly1100Ser) n.3882G>A c.2350G>A (p.Gly784Ser) c.1840G>A (p.Gly614Ser) c.*2296G>A (n.*2296G>A) c.3694G>A (p.Gly1232Ser) c.3676G>A (p.Gly1226Ser) | |
| 22 | g.50721530G>C | CA515262763 | SHANK3 | c.3298G>C (p.Gly1100Arg) n.3882G>C c.2350G>C (p.Gly784Arg) c.1840G>C (p.Gly614Arg) c.*2296G>C (n.*2296G>C) c.3694G>C (p.Gly1232Arg) c.3676G>C (p.Gly1226Arg) | |
| 22 | g.50721530G>T | CA515262764 | SHANK3 | c.3298G>T (p.Gly1100Cys) n.3882G>T c.2350G>T (p.Gly784Cys) c.1840G>T (p.Gly614Cys) c.*2296G>T (n.*2296G>T) c.3694G>T (p.Gly1232Cys) c.3676G>T (p.Gly1226Cys) | |
| 22 | g.50721531G>A | CA515262765 | SHANK3 | c.3299G>A (p.Gly1100Asp) n.3883G>A c.2351G>A (p.Gly784Asp) c.1841G>A (p.Gly614Asp) c.*2297G>A (n.*2297G>A) c.3695G>A (p.Gly1232Asp) c.3677G>A (p.Gly1226Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721531G>C | CA515262766 | SHANK3 | c.3299G>C (p.Gly1100Ala) n.3883G>C c.2351G>C (p.Gly784Ala) c.1841G>C (p.Gly614Ala) c.*2297G>C (n.*2297G>C) c.3695G>C (p.Gly1232Ala) c.3677G>C (p.Gly1226Ala) | |
| 22 | g.50721531G= | CA2411008306 | SHANK3 | c.3299G= (p.Gly1100=) n.3883G= c.2351G= (p.Gly784=) c.1841G= (p.Gly614=) c.*2297G= (n.*2297G=) c.3695G= (p.Gly1232=) c.3677G= (p.Gly1226=) | |
| 22 | g.50721531G>T | CA515262767 | SHANK3 | c.3299G>T (p.Gly1100Val) n.3883G>T c.2351G>T (p.Gly784Val) c.1841G>T (p.Gly614Val) c.*2297G>T (n.*2297G>T) c.3695G>T (p.Gly1232Val) c.3677G>T (p.Gly1226Val) | |
| 22 | g.50721532C>A | CA515262769 | SHANK3 | c.3300C>A (p.Gly1100=) n.3884C>A c.2352C>A (p.Gly784=) c.1842C>A (p.Gly614=) c.*2298C>A (n.*2298C>A) c.3696C>A (p.Gly1232=) c.3678C>A (p.Gly1226=) | |
| 22 | g.50721532C= | CA2411008307 | SHANK3 | c.3300C= (p.Gly1100=) n.3884C= c.2352C= (p.Gly784=) c.1842C= (p.Gly614=) c.*2298C= (n.*2298C=) c.3696C= (p.Gly1232=) c.3678C= (p.Gly1226=) | |
| 22 | g.50721532C>G | CA515262771 | SHANK3 | c.3300C>G (p.Gly1100=) n.3884C>G c.2352C>G (p.Gly784=) c.1842C>G (p.Gly614=) c.*2298C>G (n.*2298C>G) c.3696C>G (p.Gly1232=) c.3678C>G (p.Gly1226=) | |
| 22 | g.50721532C>T | CA515262772 | SHANK3 | c.3300C>T (p.Gly1100=) n.3884C>T c.2352C>T (p.Gly784=) c.1842C>T (p.Gly614=) c.*2298C>T (n.*2298C>T) c.3696C>T (p.Gly1232=) c.3678C>T (p.Gly1226=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721533A= | CA2411008308 | SHANK3 | c.3301A= (p.Thr1101=) n.3885A= c.2353A= (p.Thr785=) c.1843A= (p.Thr615=) c.*2299A= (n.*2299A=) c.3697A= (p.Thr1233=) c.3679A= (p.Thr1227=) | |
| 22 | g.50721533A>C | CA515262773 | SHANK3 | c.3301A>C (p.Thr1101Pro) n.3885A>C c.2353A>C (p.Thr785Pro) c.1843A>C (p.Thr615Pro) c.*2299A>C (n.*2299A>C) c.3697A>C (p.Thr1233Pro) c.3679A>C (p.Thr1227Pro) | |
| 22 | g.50721533A>G | CA10326113 | SHANK3 | c.3301A>G (p.Thr1101Ala) n.3885A>G c.2353A>G (p.Thr785Ala) c.1843A>G (p.Thr615Ala) c.*2299A>G (n.*2299A>G) c.3697A>G (p.Thr1233Ala) c.3679A>G (p.Thr1227Ala) | dbSNP ExAC gnomAD v2 |
| 22 | g.50721533A>T | CA515262774 | SHANK3 | c.3301A>T (p.Thr1101Ser) n.3885A>T c.2353A>T (p.Thr785Ser) c.1843A>T (p.Thr615Ser) c.*2299A>T (n.*2299A>T) c.3697A>T (p.Thr1233Ser) c.3679A>T (p.Thr1227Ser) | |
| 22 | g.50721534C>A | CA515262777 | SHANK3 | c.3302C>A (p.Thr1101Asn) n.3886C>A c.2354C>A (p.Thr785Asn) c.1844C>A (p.Thr615Asn) c.*2300C>A (n.*2300C>A) c.3698C>A (p.Thr1233Asn) c.3680C>A (p.Thr1227Asn) | |
| 22 | g.50721534C>G | CA515262776 | SHANK3 | c.3302C>G (p.Thr1101Ser) n.3886C>G c.2354C>G (p.Thr785Ser) c.1844C>G (p.Thr615Ser) c.*2300C>G (n.*2300C>G) c.3698C>G (p.Thr1233Ser) c.3680C>G (p.Thr1227Ser) | |
| 22 | g.50721534C>T | CA515262775 | SHANK3 | c.3302C>T (p.Thr1101Ile) n.3886C>T c.2354C>T (p.Thr785Ile) c.1844C>T (p.Thr615Ile) c.*2300C>T (n.*2300C>T) c.3698C>T (p.Thr1233Ile) c.3680C>T (p.Thr1227Ile) | gnomAD v4 |
| 22 | g.50721535C>A | CA515262778 | SHANK3 | c.3303C>A (p.Thr1101=) n.3887C>A c.2355C>A (p.Thr785=) c.1845C>A (p.Thr615=) c.*2301C>A (n.*2301C>A) c.3699C>A (p.Thr1233=) c.3681C>A (p.Thr1227=) | gnomAD v4 |
| 22 | g.50721535C= | CA2411008309 | SHANK3 | c.3303C= (p.Thr1101=) n.3887C= c.2355C= (p.Thr785=) c.1845C= (p.Thr615=) c.*2301C= (n.*2301C=) c.3699C= (p.Thr1233=) c.3681C= (p.Thr1227=) | |
| 22 | g.50721535C>G | CA515262779 | SHANK3 | c.3303C>G (p.Thr1101=) n.3887C>G c.2355C>G (p.Thr785=) c.1845C>G (p.Thr615=) c.*2301C>G (n.*2301C>G) c.3699C>G (p.Thr1233=) c.3681C>G (p.Thr1227=) | |
| 22 | g.50721535C>T | CA325579375 | SHANK3 | c.3303C>T (p.Thr1101=) n.3887C>T c.2355C>T (p.Thr785=) c.1845C>T (p.Thr615=) c.*2301C>T (n.*2301C>T) c.3699C>T (p.Thr1233=) c.3681C>T (p.Thr1227=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721536C>A | CA515262780 | SHANK3 | c.3304C>A (p.Pro1102Thr) n.3888C>A c.2356C>A (p.Pro786Thr) c.1846C>A (p.Pro616Thr) c.*2302C>A (n.*2302C>A) c.3700C>A (p.Pro1234Thr) c.3682C>A (p.Pro1228Thr) | |
| 22 | g.50721536C= | CA2411008310 | SHANK3 | c.3304C= (p.Pro1102=) n.3888C= c.2356C= (p.Pro786=) c.1846C= (p.Pro616=) c.*2302C= (n.*2302C=) c.3700C= (p.Pro1234=) c.3682C= (p.Pro1228=) | |
| 22 | g.50721536C>G | CA515262781 | SHANK3 | c.3304C>G (p.Pro1102Ala) n.3888C>G c.2356C>G (p.Pro786Ala) c.1846C>G (p.Pro616Ala) c.*2302C>G (n.*2302C>G) c.3700C>G (p.Pro1234Ala) c.3682C>G (p.Pro1228Ala) | |
| 22 | g.50721536C>T | CA325579379 | SHANK3 | c.3304C>T (p.Pro1102Ser) n.3888C>T c.2356C>T (p.Pro786Ser) c.1846C>T (p.Pro616Ser) c.*2302C>T (n.*2302C>T) c.3700C>T (p.Pro1234Ser) c.3682C>T (p.Pro1228Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721537C>A | CA10326114 | SHANK3 | c.3305C>A (p.Pro1102Gln) n.3889C>A c.2357C>A (p.Pro786Gln) c.1847C>A (p.Pro616Gln) c.*2303C>A (n.*2303C>A) c.3701C>A (p.Pro1234Gln) c.3683C>A (p.Pro1228Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721537C= | CA2411008311 | SHANK3 | c.3305C= (p.Pro1102=) n.3889C= c.2357C= (p.Pro786=) c.1847C= (p.Pro616=) c.*2303C= (n.*2303C=) c.3701C= (p.Pro1234=) c.3683C= (p.Pro1228=) | |
| 22 | g.50721537C>G | CA515262782 | SHANK3 | c.3305C>G (p.Pro1102Arg) n.3889C>G c.2357C>G (p.Pro786Arg) c.1847C>G (p.Pro616Arg) c.*2303C>G (n.*2303C>G) c.3701C>G (p.Pro1234Arg) c.3683C>G (p.Pro1228Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721537C>T | CA515262783 | SHANK3 | c.3305C>T (p.Pro1102Leu) n.3889C>T c.2357C>T (p.Pro786Leu) c.1847C>T (p.Pro616Leu) c.*2303C>T (n.*2303C>T) c.3701C>T (p.Pro1234Leu) c.3683C>T (p.Pro1228Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721538G>A | CA515262784 | SHANK3 | c.3306G>A (p.Pro1102=) n.3890G>A c.2358G>A (p.Pro786=) c.1848G>A (p.Pro616=) c.*2304G>A (n.*2304G>A) c.3702G>A (p.Pro1234=) c.3684G>A (p.Pro1228=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721538G>C | CA515262785 | SHANK3 | c.3306G>C (p.Pro1102=) n.3890G>C c.2358G>C (p.Pro786=) c.1848G>C (p.Pro616=) c.*2304G>C (n.*2304G>C) c.3702G>C (p.Pro1234=) c.3684G>C (p.Pro1228=) | |
| 22 | g.50721538G= | CA2411008312 | SHANK3 | c.3306G= (p.Pro1102=) n.3890G= c.2358G= (p.Pro786=) c.1848G= (p.Pro616=) c.*2304G= (n.*2304G=) c.3702G= (p.Pro1234=) c.3684G= (p.Pro1228=) | |
| 22 | g.50721538G>T | CA515262786 | SHANK3 | c.3306G>T (p.Pro1102=) n.3890G>T c.2358G>T (p.Pro786=) c.1848G>T (p.Pro616=) c.*2304G>T (n.*2304G>T) c.3702G>T (p.Pro1234=) c.3684G>T (p.Pro1228=) | gnomAD v4 |
| 22 | g.50721539G>A | CA515262789 | SHANK3 | c.3307G>A (p.Glu1103Lys) n.3891G>A c.2359G>A (p.Glu787Lys) c.1849G>A (p.Glu617Lys) c.*2305G>A (n.*2305G>A) c.3703G>A (p.Glu1235Lys) c.3685G>A (p.Glu1229Lys) | |
| 22 | g.50721539G>C | CA515262788 | SHANK3 | c.3307G>C (p.Glu1103Gln) n.3891G>C c.2359G>C (p.Glu787Gln) c.1849G>C (p.Glu617Gln) c.*2305G>C (n.*2305G>C) c.3703G>C (p.Glu1235Gln) c.3685G>C (p.Glu1229Gln) | dbSNP |
| 22 | g.50721539G>T | CA515262787 | SHANK3 | c.3307G>T (p.Glu1103Ter) n.3891G>T c.2359G>T (p.Glu787Ter) c.1849G>T (p.Glu617Ter) c.*2305G>T (n.*2305G>T) c.3703G>T (p.Glu1235Ter) c.3685G>T (p.Glu1229Ter) | |
| 22 | g.50721540A>C | CA515262791 | SHANK3 | c.3308A>C (p.Glu1103Ala) n.3892A>C c.2360A>C (p.Glu787Ala) c.1850A>C (p.Glu617Ala) c.*2306A>C (n.*2306A>C) c.3704A>C (p.Glu1235Ala) c.3686A>C (p.Glu1229Ala) | |
| 22 | g.50721540A>G | CA515262792 | SHANK3 | c.3308A>G (p.Glu1103Gly) n.3892A>G c.2360A>G (p.Glu787Gly) c.1850A>G (p.Glu617Gly) c.*2306A>G (n.*2306A>G) c.3704A>G (p.Glu1235Gly) c.3686A>G (p.Glu1229Gly) | |
| 22 | g.50721540A>T | CA515262793 | SHANK3 | c.3308A>T (p.Glu1103Val) n.3892A>T c.2360A>T (p.Glu787Val) c.1850A>T (p.Glu617Val) c.*2306A>T (n.*2306A>T) c.3704A>T (p.Glu1235Val) c.3686A>T (p.Glu1229Val) | |
| 22 | g.50721541G>A | CA515262794 | SHANK3 | c.3309G>A (p.Glu1103=) n.3893G>A c.2361G>A (p.Glu787=) c.1851G>A (p.Glu617=) c.*2307G>A (n.*2307G>A) c.3705G>A (p.Glu1235=) c.3687G>A (p.Glu1229=) | gnomAD v4 |
| 22 | g.50721541G>C | CA515262795 | SHANK3 | c.3309G>C (p.Glu1103Asp) n.3893G>C c.2361G>C (p.Glu787Asp) c.1851G>C (p.Glu617Asp) c.*2307G>C (n.*2307G>C) c.3705G>C (p.Glu1235Asp) c.3687G>C (p.Glu1229Asp) | |
| 22 | g.50721541G>T | CA515262796 | SHANK3 | c.3309G>T (p.Glu1103Asp) n.3893G>T c.2361G>T (p.Glu787Asp) c.1851G>T (p.Glu617Asp) c.*2307G>T (n.*2307G>T) c.3705G>T (p.Glu1235Asp) c.3687G>T (p.Glu1229Asp) | |
| 22 | g.50721542T>A | CA515262799 | SHANK3 | c.3310T>A (p.Leu1104Met) n.3894T>A c.2362T>A (p.Leu788Met) c.1852T>A (p.Leu618Met) c.*2308T>A (n.*2308T>A) c.3706T>A (p.Leu1236Met) c.3688T>A (p.Leu1230Met) | |
| 22 | g.50721542T>C | CA515262798 | SHANK3 | c.3310T>C (p.Leu1104=) n.3894T>C c.2362T>C (p.Leu788=) c.1852T>C (p.Leu618=) c.*2308T>C (n.*2308T>C) c.3706T>C (p.Leu1236=) c.3688T>C (p.Leu1230=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721542T>G | CA515262797 | SHANK3 | c.3310T>G (p.Leu1104Val) n.3894T>G c.2362T>G (p.Leu788Val) c.1852T>G (p.Leu618Val) c.*2308T>G (n.*2308T>G) c.3706T>G (p.Leu1236Val) c.3688T>G (p.Leu1230Val) | |
| 22 | g.50721542T= | CA2411008313 | SHANK3 | c.3310T= (p.Leu1104=) n.3894T= c.2362T= (p.Leu788=) c.1852T= (p.Leu618=) c.*2308T= (n.*2308T=) c.3706T= (p.Leu1236=) c.3688T= (p.Leu1230=) | |
| 22 | g.50721543T>A | CA515262800 | SHANK3 | c.3311T>A (p.Leu1104Ter) n.3895T>A c.2363T>A (p.Leu788Ter) c.1853T>A (p.Leu618Ter) c.*2309T>A (n.*2309T>A) c.3707T>A (p.Leu1236Ter) c.3689T>A (p.Leu1230Ter) | gnomAD v4 |
| 22 | g.50721543T>C | CA515262801 | SHANK3 | c.3311T>C (p.Leu1104Ser) n.3895T>C c.2363T>C (p.Leu788Ser) c.1853T>C (p.Leu618Ser) c.*2309T>C (n.*2309T>C) c.3707T>C (p.Leu1236Ser) c.3689T>C (p.Leu1230Ser) | |
| 22 | g.50721543T>G | CA515262802 | SHANK3 | c.3311T>G (p.Leu1104Trp) n.3895T>G c.2363T>G (p.Leu788Trp) c.1853T>G (p.Leu618Trp) c.*2309T>G (n.*2309T>G) c.3707T>G (p.Leu1236Trp) c.3689T>G (p.Leu1230Trp) | |
| 22 | g.50721544G>A | CA515262803 | SHANK3 | c.3312G>A (p.Leu1104=) n.3896G>A c.2364G>A (p.Leu788=) c.1854G>A (p.Leu618=) c.*2310G>A (n.*2310G>A) c.3708G>A (p.Leu1236=) c.3690G>A (p.Leu1230=) | |
| 22 | g.50721544G>C | CA515262805 | SHANK3 | c.3312G>C (p.Leu1104Phe) n.3896G>C c.2364G>C (p.Leu788Phe) c.1854G>C (p.Leu618Phe) c.*2310G>C (n.*2310G>C) c.3708G>C (p.Leu1236Phe) c.3690G>C (p.Leu1230Phe) | |
| 22 | g.50721544G>T | CA515262807 | SHANK3 | c.3312G>T (p.Leu1104Phe) n.3896G>T c.2364G>T (p.Leu788Phe) c.1854G>T (p.Leu618Phe) c.*2310G>T (n.*2310G>T) c.3708G>T (p.Leu1236Phe) c.3690G>T (p.Leu1230Phe) | |
| 22 | g.50721544_50721564dup | CA2657581051 | SHANK3 | c.3312_3332dup (p.Ser1111_Ala1112insAlaProAlaProMetGlnSer) n.3896_3916dup c.2364_2384dup (p.Ser795_Ala796insAlaProAlaProMetGlnSer) c.1854_1874dup (p.Ser625_Ala626insAlaProAlaProMetGlnSer) c.*2310_*2330dup (n.*2310_*2330dup) c.3708_3728dup (p.Ser1243_Ala1244insAlaProAlaProMetGlnSer) c.3690_3710dup (p.Ser1237_Ala1238insAlaProAlaProMetGlnSer) | gnomAD v4 |
| 22 | g.50721545G>A | CA515262809 | SHANK3 | c.3313G>A (p.Ala1105Thr) n.3897G>A c.2365G>A (p.Ala789Thr) c.1855G>A (p.Ala619Thr) c.*2311G>A (n.*2311G>A) c.3709G>A (p.Ala1237Thr) c.3691G>A (p.Ala1231Thr) | |
| 22 | g.50721545G>C | CA515262811 | SHANK3 | c.3313G>C (p.Ala1105Pro) n.3897G>C c.2365G>C (p.Ala789Pro) c.1855G>C (p.Ala619Pro) c.*2311G>C (n.*2311G>C) c.3709G>C (p.Ala1237Pro) c.3691G>C (p.Ala1231Pro) | |
| 22 | g.50721545G= | CA2411008314 | SHANK3 | c.3313G= (p.Ala1105=) n.3897G= c.2365G= (p.Ala789=) c.1855G= (p.Ala619=) c.*2311G= (n.*2311G=) c.3709G= (p.Ala1237=) c.3691G= (p.Ala1231=) | |
| 22 | g.50721545G>T | CA515262810 | SHANK3 | c.3313G>T (p.Ala1105Ser) n.3897G>T c.2365G>T (p.Ala789Ser) c.1855G>T (p.Ala619Ser) c.*2311G>T (n.*2311G>T) c.3709G>T (p.Ala1237Ser) c.3691G>T (p.Ala1231Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721546C>A | CA515262812 | SHANK3 | c.3314C>A (p.Ala1105Asp) n.3898C>A c.2366C>A (p.Ala789Asp) c.1856C>A (p.Ala619Asp) c.*2312C>A (n.*2312C>A) c.3710C>A (p.Ala1237Asp) c.3692C>A (p.Ala1231Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721546C= | CA2411008315 | SHANK3 | c.3314C= (p.Ala1105=) n.3898C= c.2366C= (p.Ala789=) c.1856C= (p.Ala619=) c.*2312C= (n.*2312C=) c.3710C= (p.Ala1237=) c.3692C= (p.Ala1231=) | |
| 22 | g.50721546C>G | CA515262813 | SHANK3 | c.3314C>G (p.Ala1105Gly) n.3898C>G c.2366C>G (p.Ala789Gly) c.1856C>G (p.Ala619Gly) c.*2312C>G (n.*2312C>G) c.3710C>G (p.Ala1237Gly) c.3692C>G (p.Ala1231Gly) | |
| 22 | g.50721546C>T | CA10326115 | SHANK3 | c.3314C>T (p.Ala1105Val) n.3898C>T c.2366C>T (p.Ala789Val) c.1856C>T (p.Ala619Val) c.*2312C>T (n.*2312C>T) c.3710C>T (p.Ala1237Val) c.3692C>T (p.Ala1231Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.50721549del | CA2657581052 | SHANK3 | c.3317del (p.Pro1106ArgfsTer?) n.3901del c.2369del (p.Pro790ArgfsTer?) c.1859del (p.Pro620ArgfsTer?) c.*2315del (n.*2315del) c.3713del (p.Pro1238ArgfsTer?) c.3695del (p.Pro1232ArgfsTer?) | gnomAD v4 |
| 22 | g.50721547C>A | CA515262814 | SHANK3 | c.3315C>A (p.Ala1105=) n.3899C>A c.2367C>A (p.Ala789=) c.1857C>A (p.Ala619=) c.*2313C>A (n.*2313C>A) c.3711C>A (p.Ala1237=) c.3693C>A (p.Ala1231=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721547C= | CA2411008316 | SHANK3 | c.3315C= (p.Ala1105=) n.3899C= c.2367C= (p.Ala789=) c.1857C= (p.Ala619=) c.*2313C= (n.*2313C=) c.3711C= (p.Ala1237=) c.3693C= (p.Ala1231=) | |
| 22 | g.50721547C>G | CA515262815 | SHANK3 | c.3315C>G (p.Ala1105=) n.3899C>G c.2367C>G (p.Ala789=) c.1857C>G (p.Ala619=) c.*2313C>G (n.*2313C>G) c.3711C>G (p.Ala1237=) c.3693C>G (p.Ala1231=) | |
| 22 | g.50721547C>T | CA515262816 | SHANK3 | c.3315C>T (p.Ala1105=) n.3899C>T c.2367C>T (p.Ala789=) c.1857C>T (p.Ala619=) c.*2313C>T (n.*2313C>T) c.3711C>T (p.Ala1237=) c.3693C>T (p.Ala1231=) | dbSNP gnomAD v4 |
| 22 | g.50721548C>A | CA515262817 | SHANK3 | c.3316C>A (p.Pro1106Thr) n.3900C>A c.2368C>A (p.Pro790Thr) c.1858C>A (p.Pro620Thr) c.*2314C>A (n.*2314C>A) c.3712C>A (p.Pro1238Thr) c.3694C>A (p.Pro1232Thr) | |
| 22 | g.50721548C= | CA2411008317 | SHANK3 | c.3316C= (p.Pro1106=) n.3900C= c.2368C= (p.Pro790=) c.1858C= (p.Pro620=) c.*2314C= (n.*2314C=) c.3712C= (p.Pro1238=) c.3694C= (p.Pro1232=) | |
| 22 | g.50721548C>G | CA515262819 | SHANK3 | c.3316C>G (p.Pro1106Ala) n.3900C>G c.2368C>G (p.Pro790Ala) c.1858C>G (p.Pro620Ala) c.*2314C>G (n.*2314C>G) c.3712C>G (p.Pro1238Ala) c.3694C>G (p.Pro1232Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721548C>T | CA515262821 | SHANK3 | c.3316C>T (p.Pro1106Ser) n.3900C>T c.2368C>T (p.Pro790Ser) c.1858C>T (p.Pro620Ser) c.*2314C>T (n.*2314C>T) c.3712C>T (p.Pro1238Ser) c.3694C>T (p.Pro1232Ser) | dbSNP gnomAD v4 |
| 22 | g.50721548_50721549insG | CA2580611761 | SHANK3 | c.3316_3317insG (p.Pro1106ArgfsTer?) n.3900_3901insG c.2368_2369insG (p.Pro790ArgfsTer?) c.1858_1859insG (p.Pro620ArgfsTer?) c.*2314_*2315insG (n.*2314_*2315insG) c.3712_3713insG (p.Pro1238ArgfsTer?) c.3694_3695insG (p.Pro1232ArgfsTer?) | |
| 22 | g.50721549C>A | CA325579393 | SHANK3 | c.3317C>A (p.Pro1106Gln) n.3901C>A c.2369C>A (p.Pro790Gln) c.1859C>A (p.Pro620Gln) c.*2315C>A (n.*2315C>A) c.3713C>A (p.Pro1238Gln) c.3695C>A (p.Pro1232Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721549C= | CA2411008318 | SHANK3 | c.3317C= (p.Pro1106=) n.3901C= c.2369C= (p.Pro790=) c.1859C= (p.Pro620=) c.*2315C= (n.*2315C=) c.3713C= (p.Pro1238=) c.3695C= (p.Pro1232=) | |
| 22 | g.50721549C>G | CA515262823 | SHANK3 | c.3317C>G (p.Pro1106Arg) n.3901C>G c.2369C>G (p.Pro790Arg) c.1859C>G (p.Pro620Arg) c.*2315C>G (n.*2315C>G) c.3713C>G (p.Pro1238Arg) c.3695C>G (p.Pro1232Arg) | |
| 22 | g.50721549C>T | CA10326116 | SHANK3 | c.3317C>T (p.Pro1106Leu) n.3901C>T c.2369C>T (p.Pro790Leu) c.1859C>T (p.Pro620Leu) c.*2315C>T (n.*2315C>T) c.3713C>T (p.Pro1238Leu) c.3695C>T (p.Pro1232Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721550G>A | CA10326117 | SHANK3 | c.3318G>A (p.Pro1106=) n.3902G>A c.2370G>A (p.Pro790=) c.1860G>A (p.Pro620=) c.*2316G>A (n.*2316G>A) c.3714G>A (p.Pro1238=) c.3696G>A (p.Pro1232=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721550G>C | CA515262825 | SHANK3 | c.3318G>C (p.Pro1106=) n.3902G>C c.2370G>C (p.Pro790=) c.1860G>C (p.Pro620=) c.*2316G>C (n.*2316G>C) c.3714G>C (p.Pro1238=) c.3696G>C (p.Pro1232=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721550G= | CA2411008319 | SHANK3 | c.3318G= (p.Pro1106=) n.3902G= c.2370G= (p.Pro790=) c.1860G= (p.Pro620=) c.*2316G= (n.*2316G=) c.3714G= (p.Pro1238=) c.3696G= (p.Pro1232=) | |
| 22 | g.50721550G>T | CA515262824 | SHANK3 | c.3318G>T (p.Pro1106=) n.3902G>T c.2370G>T (p.Pro790=) c.1860G>T (p.Pro620=) c.*2316G>T (n.*2316G>T) c.3714G>T (p.Pro1238=) c.3696G>T (p.Pro1232=) | |
| 22 | g.50721551dup | CA2499306732 | SHANK3 | c.3319dup (p.Ala1107GlyfsTer?) n.3903dup c.2371dup (p.Ala791GlyfsTer?) c.1861dup (p.Ala621GlyfsTer?) c.*2317dup (n.*2317dup) c.3715dup (p.Ala1239GlyfsTer?) c.3697dup (p.Ala1233GlyfsTer?) | |
| 22 | g.50721551G>A | CA515262826 | SHANK3 | c.3319G>A (p.Ala1107Thr) n.3903G>A c.2371G>A (p.Ala791Thr) c.1861G>A (p.Ala621Thr) c.*2317G>A (n.*2317G>A) c.3715G>A (p.Ala1239Thr) c.3697G>A (p.Ala1233Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721551G>C | CA10326118 | SHANK3 | c.3319G>C (p.Ala1107Pro) n.3903G>C c.2371G>C (p.Ala791Pro) c.1861G>C (p.Ala621Pro) c.*2317G>C (n.*2317G>C) c.3715G>C (p.Ala1239Pro) c.3697G>C (p.Ala1233Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721551G= | CA2411008320 | SHANK3 | c.3319G= (p.Ala1107=) n.3903G= c.2371G= (p.Ala791=) c.1861G= (p.Ala621=) c.*2317G= (n.*2317G=) c.3715G= (p.Ala1239=) c.3697G= (p.Ala1233=) | |
| 22 | g.50721551G>T | CA515262828 | SHANK3 | c.3319G>T (p.Ala1107Ser) n.3903G>T c.2371G>T (p.Ala791Ser) c.1861G>T (p.Ala621Ser) c.*2317G>T (n.*2317G>T) c.3715G>T (p.Ala1239Ser) c.3697G>T (p.Ala1233Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721552C>A | CA515262831 | SHANK3 | c.3320C>A (p.Ala1107Asp) n.3904C>A c.2372C>A (p.Ala791Asp) c.1862C>A (p.Ala621Asp) c.*2318C>A (n.*2318C>A) c.3716C>A (p.Ala1239Asp) c.3698C>A (p.Ala1233Asp) | |
| 22 | g.50721552C= | CA2411008321 | SHANK3 | c.3320C= (p.Ala1107=) n.3904C= c.2372C= (p.Ala791=) c.1862C= (p.Ala621=) c.*2318C= (n.*2318C=) c.3716C= (p.Ala1239=) c.3698C= (p.Ala1233=) | |
| 22 | g.50721552C>G | CA515262832 | SHANK3 | c.3320C>G (p.Ala1107Gly) n.3904C>G c.2372C>G (p.Ala791Gly) c.1862C>G (p.Ala621Gly) c.*2318C>G (n.*2318C>G) c.3716C>G (p.Ala1239Gly) c.3698C>G (p.Ala1233Gly) | |
| 22 | g.50721552C>T | CA515262833 | SHANK3 | c.3320C>T (p.Ala1107Val) n.3904C>T c.2372C>T (p.Ala791Val) c.1862C>T (p.Ala621Val) c.*2318C>T (n.*2318C>T) c.3716C>T (p.Ala1239Val) c.3698C>T (p.Ala1233Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721553C>A | CA515262834 | SHANK3 | c.3321C>A (p.Ala1107=) n.3905C>A c.2373C>A (p.Ala791=) c.1863C>A (p.Ala621=) c.*2319C>A (n.*2319C>A) c.3717C>A (p.Ala1239=) c.3699C>A (p.Ala1233=) | |
| 22 | g.50721553C= | CA2411008322 | SHANK3 | c.3321C= (p.Ala1107=) n.3905C= c.2373C= (p.Ala791=) c.1863C= (p.Ala621=) c.*2319C= (n.*2319C=) c.3717C= (p.Ala1239=) c.3699C= (p.Ala1233=) | |
| 22 | g.50721553C>G | CA515262835 | SHANK3 | c.3321C>G (p.Ala1107=) n.3905C>G c.2373C>G (p.Ala791=) c.1863C>G (p.Ala621=) c.*2319C>G (n.*2319C>G) c.3717C>G (p.Ala1239=) c.3699C>G (p.Ala1233=) | |
| 22 | g.50721553C>T | CA325579405 | SHANK3 | c.3321C>T (p.Ala1107=) n.3905C>T c.2373C>T (p.Ala791=) c.1863C>T (p.Ala621=) c.*2319C>T (n.*2319C>T) c.3717C>T (p.Ala1239=) c.3699C>T (p.Ala1233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721554C>A | CA515262836 | SHANK3 | c.3322C>A (p.Pro1108Thr) n.3906C>A c.2374C>A (p.Pro792Thr) c.1864C>A (p.Pro622Thr) c.*2320C>A (n.*2320C>A) c.3718C>A (p.Pro1240Thr) c.3700C>A (p.Pro1234Thr) | |
| 22 | g.50721554C>G | CA515262837 | SHANK3 | c.3322C>G (p.Pro1108Ala) n.3906C>G c.2374C>G (p.Pro792Ala) c.1864C>G (p.Pro622Ala) c.*2320C>G (n.*2320C>G) c.3718C>G (p.Pro1240Ala) c.3700C>G (p.Pro1234Ala) | gnomAD v4 |
| 22 | g.50721554C>T | CA515262838 | SHANK3 | c.3322C>T (p.Pro1108Ser) n.3906C>T c.2374C>T (p.Pro792Ser) c.1864C>T (p.Pro622Ser) c.*2320C>T (n.*2320C>T) c.3718C>T (p.Pro1240Ser) c.3700C>T (p.Pro1234Ser) | |
| 22 | g.50721555_50721567del | CA2573055036 | SHANK3 | c.3323_3335del (p.Pro1108ArgfsTer?) n.3907_3919del c.2375_2387del (p.Pro792ArgfsTer?) c.1865_1877del (p.Pro622ArgfsTer?) c.*2321_*2333del (n.*2321_*2333del) c.3719_3731del (p.Pro1240ArgfsTer?) c.3701_3713del (p.Pro1234ArgfsTer?) | dbSNP |
| 22 | g.50721555C>A | CA515262841 | SHANK3 | c.3323C>A (p.Pro1108His) n.3907C>A c.2375C>A (p.Pro792His) c.1865C>A (p.Pro622His) c.*2321C>A (n.*2321C>A) c.3719C>A (p.Pro1240His) c.3701C>A (p.Pro1234His) | |
| 22 | g.50721555C>G | CA515262839 | SHANK3 | c.3323C>G (p.Pro1108Arg) n.3907C>G c.2375C>G (p.Pro792Arg) c.1865C>G (p.Pro622Arg) c.*2321C>G (n.*2321C>G) c.3719C>G (p.Pro1240Arg) c.3701C>G (p.Pro1234Arg) | |
| 22 | g.50721555C>T | CA515262840 | SHANK3 | c.3323C>T (p.Pro1108Leu) n.3907C>T c.2375C>T (p.Pro792Leu) c.1865C>T (p.Pro622Leu) c.*2321C>T (n.*2321C>T) c.3719C>T (p.Pro1240Leu) c.3701C>T (p.Pro1234Leu) | gnomAD v4 |
| 22 | g.50721556C>A | CA515262842 | SHANK3 | c.3324C>A (p.Pro1108=) n.3908C>A c.2376C>A (p.Pro792=) c.1866C>A (p.Pro622=) c.*2322C>A (n.*2322C>A) c.3720C>A (p.Pro1240=) c.3702C>A (p.Pro1234=) | |
| 22 | g.50721556C= | CA2411008323 | SHANK3 | c.3324C= (p.Pro1108=) n.3908C= c.2376C= (p.Pro792=) c.1866C= (p.Pro622=) c.*2322C= (n.*2322C=) c.3720C= (p.Pro1240=) c.3702C= (p.Pro1234=) | |
| 22 | g.50721556C>G | CA515262843 | SHANK3 | c.3324C>G (p.Pro1108=) n.3908C>G c.2376C>G (p.Pro792=) c.1866C>G (p.Pro622=) c.*2322C>G (n.*2322C>G) c.3720C>G (p.Pro1240=) c.3702C>G (p.Pro1234=) | |
| 22 | g.50721556C>T | CA515262844 | SHANK3 | c.3324C>T (p.Pro1108=) n.3908C>T c.2376C>T (p.Pro792=) c.1866C>T (p.Pro622=) c.*2322C>T (n.*2322C>T) c.3720C>T (p.Pro1240=) c.3702C>T (p.Pro1234=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721557A= | CA2411008324 | SHANK3 | c.3325A= (p.Met1109=) n.3909A= c.2377A= (p.Met793=) c.1867A= (p.Met623=) c.*2323A= (n.*2323A=) c.3721A= (p.Met1241=) c.3703A= (p.Met1235=) | |
| 22 | g.50721557A>C | CA515262845 | SHANK3 | c.3325A>C (p.Met1109Leu) n.3909A>C c.2377A>C (p.Met793Leu) c.1867A>C (p.Met623Leu) c.*2323A>C (n.*2323A>C) c.3721A>C (p.Met1241Leu) c.3703A>C (p.Met1235Leu) | |
| 22 | g.50721557A>G | CA515262846 | SHANK3 | c.3325A>G (p.Met1109Val) n.3909A>G c.2377A>G (p.Met793Val) c.1867A>G (p.Met623Val) c.*2323A>G (n.*2323A>G) c.3721A>G (p.Met1241Val) c.3703A>G (p.Met1235Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721557A>T | CA515262847 | SHANK3 | c.3325A>T (p.Met1109Leu) n.3909A>T c.2377A>T (p.Met793Leu) c.1867A>T (p.Met623Leu) c.*2323A>T (n.*2323A>T) c.3721A>T (p.Met1241Leu) c.3703A>T (p.Met1235Leu) | dbSNP |
| 22 | g.50721557dup | CA2580099995 | SHANK3 | c.3325dup (p.Met1109AsnfsTer?) n.3909dup c.2377dup (p.Met793AsnfsTer?) c.1867dup (p.Met623AsnfsTer?) c.*2323dup (n.*2323dup) c.3721dup (p.Met1241AsnfsTer?) c.3703dup (p.Met1235AsnfsTer?) | ClinVar |
| 22 | g.50721558T>A | CA515262848 | SHANK3 | c.3326T>A (p.Met1109Lys) n.3910T>A c.2378T>A (p.Met793Lys) c.1868T>A (p.Met623Lys) c.*2324T>A (n.*2324T>A) c.3722T>A (p.Met1241Lys) c.3704T>A (p.Met1235Lys) | |
| 22 | g.50721558T>C | CA515262849 | SHANK3 | c.3326T>C (p.Met1109Thr) n.3910T>C c.2378T>C (p.Met793Thr) c.1868T>C (p.Met623Thr) c.*2324T>C (n.*2324T>C) c.3722T>C (p.Met1241Thr) c.3704T>C (p.Met1235Thr) | dbSNP gnomAD v4 |
| 22 | g.50721558T>G | CA515262851 | SHANK3 | c.3326T>G (p.Met1109Arg) n.3910T>G c.2378T>G (p.Met793Arg) c.1868T>G (p.Met623Arg) c.*2324T>G (n.*2324T>G) c.3722T>G (p.Met1241Arg) c.3704T>G (p.Met1235Arg) | ClinVar dbSNP |
| 22 | g.50721558T= | CA2411008325 | SHANK3 | c.3326T= (p.Met1109=) n.3910T= c.2378T= (p.Met793=) c.1868T= (p.Met623=) c.*2324T= (n.*2324T=) c.3722T= (p.Met1241=) c.3704T= (p.Met1235=) | |
| 22 | g.50721560_50721572del | CA2573158315 | SHANK3 | c.3328_3340del (p.Gln1110TrpfsTer?) n.3912_3924del c.2380_2392del (p.Gln794TrpfsTer?) c.1870_1882del (p.Gln624TrpfsTer?) c.*2326_*2338del (n.*2326_*2338del) c.3724_3736del (p.Gln1242TrpfsTer?) c.3706_3718del (p.Gln1236TrpfsTer?) | ClinVar dbSNP |
| 22 | g.50721559G>A | CA515262853 | SHANK3 | c.3327G>A (p.Met1109Ile) n.3911G>A c.2379G>A (p.Met793Ile) c.1869G>A (p.Met623Ile) c.*2325G>A (n.*2325G>A) c.3723G>A (p.Met1241Ile) c.3705G>A (p.Met1235Ile) | |
| 22 | g.50721559G>C | CA515262855 | SHANK3 | c.3327G>C (p.Met1109Ile) n.3911G>C c.2379G>C (p.Met793Ile) c.1869G>C (p.Met623Ile) c.*2325G>C (n.*2325G>C) c.3723G>C (p.Met1241Ile) c.3705G>C (p.Met1235Ile) | |
| 22 | g.50721559G>T | CA515262856 | SHANK3 | c.3327G>T (p.Met1109Ile) n.3911G>T c.2379G>T (p.Met793Ile) c.1869G>T (p.Met623Ile) c.*2325G>T (n.*2325G>T) c.3723G>T (p.Met1241Ile) c.3705G>T (p.Met1235Ile) | |
| 22 | g.50721560C>A | CA515262858 | SHANK3 | c.3328C>A (p.Gln1110Lys) n.3912C>A c.2380C>A (p.Gln794Lys) c.1870C>A (p.Gln624Lys) c.*2326C>A (n.*2326C>A) c.3724C>A (p.Gln1242Lys) c.3706C>A (p.Gln1236Lys) | gnomAD v4 |
| 22 | g.50721560C>G | CA515262859 | SHANK3 | c.3328C>G (p.Gln1110Glu) n.3912C>G c.2380C>G (p.Gln794Glu) c.1870C>G (p.Gln624Glu) c.*2326C>G (n.*2326C>G) c.3724C>G (p.Gln1242Glu) c.3706C>G (p.Gln1236Glu) | |
| 22 | g.50721560C>T | CA515262857 | SHANK3 | c.3328C>T (p.Gln1110Ter) n.3912C>T c.2380C>T (p.Gln794Ter) c.1870C>T (p.Gln624Ter) c.*2326C>T (n.*2326C>T) c.3724C>T (p.Gln1242Ter) c.3706C>T (p.Gln1236Ter) | gnomAD v4 |
| 22 | g.50721560dup | CA2580099997 | SHANK3 | c.3328dup (p.Gln1110ProfsTer?) n.3912dup c.2380dup (p.Gln794ProfsTer?) c.1870dup (p.Gln624ProfsTer?) c.*2326dup (n.*2326dup) c.3724dup (p.Gln1242ProfsTer?) c.3706dup (p.Gln1236ProfsTer?) | ClinVar |
| 22 | g.50721561A= | CA2411008326 | SHANK3 | c.3329A= (p.Gln1110=) n.3913A= c.2381A= (p.Gln794=) c.1871A= (p.Gln624=) c.*2327A= (n.*2327A=) c.3725A= (p.Gln1242=) c.3707A= (p.Gln1236=) | |
| 22 | g.50721561A>C | CA515262861 | SHANK3 | c.3329A>C (p.Gln1110Pro) n.3913A>C c.2381A>C (p.Gln794Pro) c.1871A>C (p.Gln624Pro) c.*2327A>C (n.*2327A>C) c.3725A>C (p.Gln1242Pro) c.3707A>C (p.Gln1236Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721561A>G | CA515262860 | SHANK3 | c.3329A>G (p.Gln1110Arg) n.3913A>G c.2381A>G (p.Gln794Arg) c.1871A>G (p.Gln624Arg) c.*2327A>G (n.*2327A>G) c.3725A>G (p.Gln1242Arg) c.3707A>G (p.Gln1236Arg) | |
| 22 | g.50721561A>T | CA515262862 | SHANK3 | c.3329A>T (p.Gln1110Leu) n.3913A>T c.2381A>T (p.Gln794Leu) c.1871A>T (p.Gln624Leu) c.*2327A>T (n.*2327A>T) c.3725A>T (p.Gln1242Leu) c.3707A>T (p.Gln1236Leu) | |
| 22 | g.50721562G>A | CA515262863 | SHANK3 | c.3330G>A (p.Gln1110=) n.3914G>A c.2382G>A (p.Gln794=) c.1872G>A (p.Gln624=) c.*2328G>A (n.*2328G>A) c.3726G>A (p.Gln1242=) c.3708G>A (p.Gln1236=) | gnomAD v4 |
| 22 | g.50721562G>C | CA515262865 | SHANK3 | c.3330G>C (p.Gln1110His) n.3914G>C c.2382G>C (p.Gln794His) c.1872G>C (p.Gln624His) c.*2328G>C (n.*2328G>C) c.3726G>C (p.Gln1242His) c.3708G>C (p.Gln1236His) | |
| 22 | g.50721562G>T | CA515262866 | SHANK3 | c.3330G>T (p.Gln1110His) n.3914G>T c.2382G>T (p.Gln794His) c.1872G>T (p.Gln624His) c.*2328G>T (n.*2328G>T) c.3726G>T (p.Gln1242His) c.3708G>T (p.Gln1236His) | |
| 22 | g.50721563T>A | CA515262867 | SHANK3 | c.3331T>A (p.Ser1111Thr) n.3915T>A c.2383T>A (p.Ser795Thr) c.1873T>A (p.Ser625Thr) c.*2329T>A (n.*2329T>A) c.3727T>A (p.Ser1243Thr) c.3709T>A (p.Ser1237Thr) | |
| 22 | g.50721563T>C | CA515262868 | SHANK3 | c.3331T>C (p.Ser1111Pro) n.3915T>C c.2383T>C (p.Ser795Pro) c.1873T>C (p.Ser625Pro) c.*2329T>C (n.*2329T>C) c.3727T>C (p.Ser1243Pro) c.3709T>C (p.Ser1237Pro) | gnomAD v4 |
| 22 | g.50721563T>G | CA515262869 | SHANK3 | c.3331T>G (p.Ser1111Ala) n.3915T>G c.2383T>G (p.Ser795Ala) c.1873T>G (p.Ser625Ala) c.*2329T>G (n.*2329T>G) c.3727T>G (p.Ser1243Ala) c.3709T>G (p.Ser1237Ala) | gnomAD v4 |
| 22 | g.50721564C>A | CA515262870 | SHANK3 | c.3332C>A (p.Ser1111Ter) n.3916C>A c.2384C>A (p.Ser795Ter) c.1874C>A (p.Ser625Ter) c.*2330C>A (n.*2330C>A) c.3728C>A (p.Ser1243Ter) c.3710C>A (p.Ser1237Ter) | |
| 22 | g.50721564C= | CA2411008327 | SHANK3 | c.3332C= (p.Ser1111=) n.3916C= c.2384C= (p.Ser795=) c.1874C= (p.Ser625=) c.*2330C= (n.*2330C=) c.3728C= (p.Ser1243=) c.3710C= (p.Ser1237=) | |
| 22 | g.50721564C>G | CA515262871 | SHANK3 | c.3332C>G (p.Ser1111Ter) n.3916C>G c.2384C>G (p.Ser795Ter) c.1874C>G (p.Ser625Ter) c.*2330C>G (n.*2330C>G) c.3728C>G (p.Ser1243Ter) c.3710C>G (p.Ser1237Ter) | |
| 22 | g.50721564C>T | CA515262872 | SHANK3 | c.3332C>T (p.Ser1111Leu) n.3916C>T c.2384C>T (p.Ser795Leu) c.1874C>T (p.Ser625Leu) c.*2330C>T (n.*2330C>T) c.3728C>T (p.Ser1243Leu) c.3710C>T (p.Ser1237Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721565A>C | CA515262873 | SHANK3 | c.3333A>C (p.Ser1111=) n.3917A>C c.2385A>C (p.Ser795=) c.1875A>C (p.Ser625=) c.*2331A>C (n.*2331A>C) c.3729A>C (p.Ser1243=) c.3711A>C (p.Ser1237=) | |
| 22 | g.50721565A>G | CA515262874 | SHANK3 | c.3333A>G (p.Ser1111=) n.3917A>G c.2385A>G (p.Ser795=) c.1875A>G (p.Ser625=) c.*2331A>G (n.*2331A>G) c.3729A>G (p.Ser1243=) c.3711A>G (p.Ser1237=) | |
| 22 | g.50721565A>T | CA515262875 | SHANK3 | c.3333A>T (p.Ser1111=) n.3917A>T c.2385A>T (p.Ser795=) c.1875A>T (p.Ser625=) c.*2331A>T (n.*2331A>T) c.3729A>T (p.Ser1243=) c.3711A>T (p.Ser1237=) | |
| 22 | g.50721566G>A | CA515262879 | SHANK3 | c.3334G>A (p.Ala1112Thr) n.3918G>A c.2386G>A (p.Ala796Thr) c.1876G>A (p.Ala626Thr) c.*2332G>A (n.*2332G>A) c.3730G>A (p.Ala1244Thr) c.3712G>A (p.Ala1238Thr) | |
| 22 | g.50721566G>C | CA515262876 | SHANK3 | c.3334G>C (p.Ala1112Pro) n.3918G>C c.2386G>C (p.Ala796Pro) c.1876G>C (p.Ala626Pro) c.*2332G>C (n.*2332G>C) c.3730G>C (p.Ala1244Pro) c.3712G>C (p.Ala1238Pro) | |
| 22 | g.50721566G>T | CA515262878 | SHANK3 | c.3334G>T (p.Ala1112Ser) n.3918G>T c.2386G>T (p.Ala796Ser) c.1876G>T (p.Ala626Ser) c.*2332G>T (n.*2332G>T) c.3730G>T (p.Ala1244Ser) c.3712G>T (p.Ala1238Ser) | |
| 22 | g.50721567C>A | CA515262880 | SHANK3 | c.3335C>A (p.Ala1112Glu) n.3919C>A c.2387C>A (p.Ala796Glu) c.1877C>A (p.Ala626Glu) c.*2333C>A (n.*2333C>A) c.3731C>A (p.Ala1244Glu) c.3713C>A (p.Ala1238Glu) | |
| 22 | g.50721567C= | CA2411008328 | SHANK3 | c.3335C= (p.Ala1112=) n.3919C= c.2387C= (p.Ala796=) c.1877C= (p.Ala626=) c.*2333C= (n.*2333C=) c.3731C= (p.Ala1244=) c.3713C= (p.Ala1238=) | |
| 22 | g.50721567C>G | CA515262881 | SHANK3 | c.3335C>G (p.Ala1112Gly) n.3919C>G c.2387C>G (p.Ala796Gly) c.1877C>G (p.Ala626Gly) c.*2333C>G (n.*2333C>G) c.3731C>G (p.Ala1244Gly) c.3713C>G (p.Ala1238Gly) | dbSNP gnomAD v4 |
| 22 | g.50721567C>T | CA10326119 | SHANK3 | c.3335C>T (p.Ala1112Val) n.3919C>T c.2387C>T (p.Ala796Val) c.1877C>T (p.Ala626Val) c.*2333C>T (n.*2333C>T) c.3731C>T (p.Ala1244Val) c.3713C>T (p.Ala1238Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721568G>A | CA10326120 | SHANK3 | c.3336G>A (p.Ala1112=) n.3920G>A c.2388G>A (p.Ala796=) c.1878G>A (p.Ala626=) c.*2334G>A (n.*2334G>A) c.3732G>A (p.Ala1244=) c.3714G>A (p.Ala1238=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721568G>C | CA515262882 | SHANK3 | c.3336G>C (p.Ala1112=) n.3920G>C c.2388G>C (p.Ala796=) c.1878G>C (p.Ala626=) c.*2334G>C (n.*2334G>C) c.3732G>C (p.Ala1244=) c.3714G>C (p.Ala1238=) | |
| 22 | g.50721568G= | CA2411008329 | SHANK3 | c.3336G= (p.Ala1112=) n.3920G= c.2388G= (p.Ala796=) c.1878G= (p.Ala626=) c.*2334G= (n.*2334G=) c.3732G= (p.Ala1244=) c.3714G= (p.Ala1238=) | |
| 22 | g.50721568G>T | CA515262883 | SHANK3 | c.3336G>T (p.Ala1112=) n.3920G>T c.2388G>T (p.Ala796=) c.1878G>T (p.Ala626=) c.*2334G>T (n.*2334G>T) c.3732G>T (p.Ala1244=) c.3714G>T (p.Ala1238=) | |
| 22 | g.50721569G>A | CA515262884 | SHANK3 | c.3337G>A (p.Ala1113Thr) n.3921G>A c.2389G>A (p.Ala797Thr) c.1879G>A (p.Ala627Thr) c.*2335G>A (n.*2335G>A) c.3733G>A (p.Ala1245Thr) c.3715G>A (p.Ala1239Thr) | dbSNP gnomAD v2 |
| 22 | g.50721569G>C | CA515262886 | SHANK3 | c.3337G>C (p.Ala1113Pro) n.3921G>C c.2389G>C (p.Ala797Pro) c.1879G>C (p.Ala627Pro) c.*2335G>C (n.*2335G>C) c.3733G>C (p.Ala1245Pro) c.3715G>C (p.Ala1239Pro) | |
| 22 | g.50721569G= | CA2411008330 | SHANK3 | c.3337G= (p.Ala1113=) n.3921G= c.2389G= (p.Ala797=) c.1879G= (p.Ala627=) c.*2335G= (n.*2335G=) c.3733G= (p.Ala1245=) c.3715G= (p.Ala1239=) | |
| 22 | g.50721569G>T | CA515262888 | SHANK3 | c.3337G>T (p.Ala1113Ser) n.3921G>T c.2389G>T (p.Ala797Ser) c.1879G>T (p.Ala627Ser) c.*2335G>T (n.*2335G>T) c.3733G>T (p.Ala1245Ser) c.3715G>T (p.Ala1239Ser) | |
| 22 | g.50721570C>A | CA515262890 | SHANK3 | c.3338C>A (p.Ala1113Asp) n.3922C>A c.2390C>A (p.Ala797Asp) c.1880C>A (p.Ala627Asp) c.*2336C>A (n.*2336C>A) c.3734C>A (p.Ala1245Asp) c.3716C>A (p.Ala1239Asp) | |
| 22 | g.50721570C>G | CA515262891 | SHANK3 | c.3338C>G (p.Ala1113Gly) n.3922C>G c.2390C>G (p.Ala797Gly) c.1880C>G (p.Ala627Gly) c.*2336C>G (n.*2336C>G) c.3734C>G (p.Ala1245Gly) c.3716C>G (p.Ala1239Gly) | |
| 22 | g.50721570C>T | CA515262892 | SHANK3 | c.3338C>T (p.Ala1113Val) n.3922C>T c.2390C>T (p.Ala797Val) c.1880C>T (p.Ala627Val) c.*2336C>T (n.*2336C>T) c.3734C>T (p.Ala1245Val) c.3716C>T (p.Ala1239Val) | |
| 22 | g.50721571T>A | CA515262895 | SHANK3 | c.3339T>A (p.Ala1113=) n.3923T>A c.2391T>A (p.Ala797=) c.1881T>A (p.Ala627=) c.*2337T>A (n.*2337T>A) c.3735T>A (p.Ala1245=) c.3717T>A (p.Ala1239=) | |
| 22 | g.50721571T>C | CA515262894 | SHANK3 | c.3339T>C (p.Ala1113=) n.3923T>C c.2391T>C (p.Ala797=) c.1881T>C (p.Ala627=) c.*2337T>C (n.*2337T>C) c.3735T>C (p.Ala1245=) c.3717T>C (p.Ala1239=) | |
| 22 | g.50721571T>G | CA515262893 | SHANK3 | c.3339T>G (p.Ala1113=) n.3923T>G c.2391T>G (p.Ala797=) c.1881T>G (p.Ala627=) c.*2337T>G (n.*2337T>G) c.3735T>G (p.Ala1245=) c.3717T>G (p.Ala1239=) | |
| 22 | g.50721572G>A | CA515262898 | SHANK3 | c.3340G>A (p.Val1114Met) n.3924G>A c.2392G>A (p.Val798Met) c.1882G>A (p.Val628Met) c.*2338G>A (n.*2338G>A) c.3736G>A (p.Val1246Met) c.3718G>A (p.Val1240Met) | gnomAD v4 |
| 22 | g.50721572G>C | CA515262896 | SHANK3 | c.3340G>C (p.Val1114Leu) n.3924G>C c.2392G>C (p.Val798Leu) c.1882G>C (p.Val628Leu) c.*2338G>C (n.*2338G>C) c.3736G>C (p.Val1246Leu) c.3718G>C (p.Val1240Leu) | |
| 22 | g.50721572G>T | CA515262897 | SHANK3 | c.3340G>T (p.Val1114Leu) n.3924G>T c.2392G>T (p.Val798Leu) c.1882G>T (p.Val628Leu) c.*2338G>T (n.*2338G>T) c.3736G>T (p.Val1246Leu) c.3718G>T (p.Val1240Leu) | |
| 22 | g.50721573T>A | CA515262899 | SHANK3 | c.3341T>A (p.Val1114Glu) n.3925T>A c.2393T>A (p.Val798Glu) c.1883T>A (p.Val628Glu) c.*2339T>A (n.*2339T>A) c.3737T>A (p.Val1246Glu) c.3719T>A (p.Val1240Glu) | |
| 22 | g.50721573T>C | CA515262901 | SHANK3 | c.3341T>C (p.Val1114Ala) n.3925T>C c.2393T>C (p.Val798Ala) c.1883T>C (p.Val628Ala) c.*2339T>C (n.*2339T>C) c.3737T>C (p.Val1246Ala) c.3719T>C (p.Val1240Ala) | gnomAD v4 |
| 22 | g.50721573T>G | CA515262903 | SHANK3 | c.3341T>G (p.Val1114Gly) n.3925T>G c.2393T>G (p.Val798Gly) c.1883T>G (p.Val628Gly) c.*2339T>G (n.*2339T>G) c.3737T>G (p.Val1246Gly) c.3719T>G (p.Val1240Gly) | |
| 22 | g.50721574G>A | CA515262907 | SHANK3 | c.3342G>A (p.Val1114=) n.3926G>A c.2394G>A (p.Val798=) c.1884G>A (p.Val628=) c.*2340G>A (n.*2340G>A) c.3738G>A (p.Val1246=) c.3720G>A (p.Val1240=) | gnomAD v4 |
| 22 | g.50721574G>C | CA515262906 | SHANK3 | c.3342G>C (p.Val1114=) n.3926G>C c.2394G>C (p.Val798=) c.1884G>C (p.Val628=) c.*2340G>C (n.*2340G>C) c.3738G>C (p.Val1246=) c.3720G>C (p.Val1240=) | |
| 22 | g.50721574G>T | CA515262905 | SHANK3 | c.3342G>T (p.Val1114=) n.3926G>T c.2394G>T (p.Val798=) c.1884G>T (p.Val628=) c.*2340G>T (n.*2340G>T) c.3738G>T (p.Val1246=) c.3720G>T (p.Val1240=) | gnomAD v4 |
| 22 | g.50721575G>A | CA515262908 | SHANK3 | c.3343G>A (p.Ala1115Thr) n.3927G>A c.2395G>A (p.Ala799Thr) c.1885G>A (p.Ala629Thr) c.*2341G>A (n.*2341G>A) c.3739G>A (p.Ala1247Thr) c.3721G>A (p.Ala1241Thr) | gnomAD v4 |
| 22 | g.50721575G>C | CA515262909 | SHANK3 | c.3343G>C (p.Ala1115Pro) n.3927G>C c.2395G>C (p.Ala799Pro) c.1885G>C (p.Ala629Pro) c.*2341G>C (n.*2341G>C) c.3739G>C (p.Ala1247Pro) c.3721G>C (p.Ala1241Pro) | |
| 22 | g.50721575G>T | CA515262910 | SHANK3 | c.3343G>T (p.Ala1115Ser) n.3927G>T c.2395G>T (p.Ala799Ser) c.1885G>T (p.Ala629Ser) c.*2341G>T (n.*2341G>T) c.3739G>T (p.Ala1247Ser) c.3721G>T (p.Ala1241Ser) | gnomAD v4 |
| 22 | g.50721576C>A | CA515262911 | SHANK3 | c.3344C>A (p.Ala1115Glu) n.3928C>A c.2396C>A (p.Ala799Glu) c.1886C>A (p.Ala629Glu) c.*2342C>A (n.*2342C>A) c.3740C>A (p.Ala1247Glu) c.3722C>A (p.Ala1241Glu) | gnomAD v4 |
| 22 | g.50721576C>G | CA515262912 | SHANK3 | c.3344C>G (p.Ala1115Gly) n.3928C>G c.2396C>G (p.Ala799Gly) c.1886C>G (p.Ala629Gly) c.*2342C>G (n.*2342C>G) c.3740C>G (p.Ala1247Gly) c.3722C>G (p.Ala1241Gly) | |
| 22 | g.50721576C>T | CA515262913 | SHANK3 | c.3344C>T (p.Ala1115Val) n.3928C>T c.2396C>T (p.Ala799Val) c.1886C>T (p.Ala629Val) c.*2342C>T (n.*2342C>T) c.3740C>T (p.Ala1247Val) c.3722C>T (p.Ala1241Val) | |
| 22 | g.50721577A>C | CA515262914 | SHANK3 | c.3345A>C (p.Ala1115=) n.3929A>C c.2397A>C (p.Ala799=) c.1887A>C (p.Ala629=) c.*2343A>C (n.*2343A>C) c.3741A>C (p.Ala1247=) c.3723A>C (p.Ala1241=) | |
| 22 | g.50721577A>G | CA515262916 | SHANK3 | c.3345A>G (p.Ala1115=) n.3929A>G c.2397A>G (p.Ala799=) c.1887A>G (p.Ala629=) c.*2343A>G (n.*2343A>G) c.3741A>G (p.Ala1247=) c.3723A>G (p.Ala1241=) | |
| 22 | g.50721577A>T | CA515262915 | SHANK3 | c.3345A>T (p.Ala1115=) n.3929A>T c.2397A>T (p.Ala799=) c.1887A>T (p.Ala629=) c.*2343A>T (n.*2343A>T) c.3741A>T (p.Ala1247=) c.3723A>T (p.Ala1241=) | |
| 22 | g.50721578G>A | CA10326121 | SHANK3 | c.3346G>A (p.Glu1116Lys) n.3930G>A c.2398G>A (p.Glu800Lys) c.1888G>A (p.Glu630Lys) c.*2344G>A (n.*2344G>A) c.3742G>A (p.Glu1248Lys) c.3724G>A (p.Glu1242Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721578G>C | CA515262917 | SHANK3 | c.3346G>C (p.Glu1116Gln) n.3930G>C c.2398G>C (p.Glu800Gln) c.1888G>C (p.Glu630Gln) c.*2344G>C (n.*2344G>C) c.3742G>C (p.Glu1248Gln) c.3724G>C (p.Glu1242Gln) | |
| 22 | g.50721578G= | CA2411008331 | SHANK3 | c.3346G= (p.Glu1116=) n.3930G= c.2398G= (p.Glu800=) c.1888G= (p.Glu630=) c.*2344G= (n.*2344G=) c.3742G= (p.Glu1248=) c.3724G= (p.Glu1242=) | |
| 22 | g.50721578G>T | CA515262918 | SHANK3 | c.3346G>T (p.Glu1116Ter) n.3930G>T c.2398G>T (p.Glu800Ter) c.1888G>T (p.Glu630Ter) c.*2344G>T (n.*2344G>T) c.3742G>T (p.Glu1248Ter) c.3724G>T (p.Glu1242Ter) | |
| 22 | g.50721579A= | CA2411008332 | SHANK3 | c.3347A= (p.Glu1116=) n.3931A= c.2399A= (p.Glu800=) c.1889A= (p.Glu630=) c.*2345A= (n.*2345A=) c.3743A= (p.Glu1248=) c.3725A= (p.Glu1242=) | |
| 22 | g.50721579A>C | CA515262919 | SHANK3 | c.3347A>C (p.Glu1116Ala) n.3931A>C c.2399A>C (p.Glu800Ala) c.1889A>C (p.Glu630Ala) c.*2345A>C (n.*2345A>C) c.3743A>C (p.Glu1248Ala) c.3725A>C (p.Glu1242Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721579A>G | CA515262920 | SHANK3 | c.3347A>G (p.Glu1116Gly) n.3931A>G c.2399A>G (p.Glu800Gly) c.1889A>G (p.Glu630Gly) c.*2345A>G (n.*2345A>G) c.3743A>G (p.Glu1248Gly) c.3725A>G (p.Glu1242Gly) | |
| 22 | g.50721579A>T | CA515262921 | SHANK3 | c.3347A>T (p.Glu1116Val) n.3931A>T c.2399A>T (p.Glu800Val) c.1889A>T (p.Glu630Val) c.*2345A>T (n.*2345A>T) c.3743A>T (p.Glu1248Val) c.3725A>T (p.Glu1242Val) | |
| 22 | g.50721585_50721608dup | CA2657581053 | SHANK3 | c.3353_3376dup (p.Pro1125_Pro1126insLeuProSerProArgAlaGlnPro) n.3937_3960dup c.2405_2428dup (p.Pro809_Pro810insLeuProSerProArgAlaGlnPro) c.1895_1918dup (p.Pro639_Pro640insLeuProSerProArgAlaGlnPro) c.*2351_*2374dup (n.*2351_*2374dup) c.3749_3772dup (p.Pro1257_Pro1258insLeuProSerProArgAlaGlnPro) c.3731_3754dup (p.Pro1251_Pro1252insLeuProSerProArgAlaGlnPro) | gnomAD v4 |
| 22 | g.50721580G>A | CA10326122 | SHANK3 | c.3348G>A (p.Glu1116=) n.3932G>A c.2400G>A (p.Glu800=) c.1890G>A (p.Glu630=) c.*2346G>A (n.*2346G>A) c.3744G>A (p.Glu1248=) c.3726G>A (p.Glu1242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721580G>C | CA515262922 | SHANK3 | c.3348G>C (p.Glu1116Asp) n.3932G>C c.2400G>C (p.Glu800Asp) c.1890G>C (p.Glu630Asp) c.*2346G>C (n.*2346G>C) c.3744G>C (p.Glu1248Asp) c.3726G>C (p.Glu1242Asp) | |
| 22 | g.50721580G= | CA2411008333 | SHANK3 | c.3348G= (p.Glu1116=) n.3932G= c.2400G= (p.Glu800=) c.1890G= (p.Glu630=) c.*2346G= (n.*2346G=) c.3744G= (p.Glu1248=) c.3726G= (p.Glu1242=) | |
| 22 | g.50721580G>T | CA515262923 | SHANK3 | c.3348G>T (p.Glu1116Asp) n.3932G>T c.2400G>T (p.Glu800Asp) c.1890G>T (p.Glu630Asp) c.*2346G>T (n.*2346G>T) c.3744G>T (p.Glu1248Asp) c.3726G>T (p.Glu1242Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721580_50721593delinsGCCCCTGCCCAGCC | CA2411008334 | SHANK3 | c.3348_3361delinsGCCCCTGCCCAGCC (p.Glu1116=) n.3932_3945delinsGCCCCTGCCCAGCC c.2400_2413delinsGCCCCTGCCCAGCC (p.Glu800=) c.1890_1903delinsGCCCCTGCCCAGCC (p.Glu630=) c.*2346_*2359delinsGCCCCTGCCCAGCC (n.*2346_*2359delinsGCCCCTGCCCAGCC) c.3744_3757delinsGCCCCTGCCCAGCC (p.Glu1248=) c.3726_3739delinsGCCCCTGCCCAGCC (p.Glu1242=) | |
| 22 | g.50721581C>A | CA515262924 | SHANK3 | c.3349C>A (p.Pro1117Thr) n.3933C>A c.2401C>A (p.Pro801Thr) c.1891C>A (p.Pro631Thr) c.*2347C>A (n.*2347C>A) c.3745C>A (p.Pro1249Thr) c.3727C>A (p.Pro1243Thr) | gnomAD v4 |
| 22 | g.50721581C>G | CA515262925 | SHANK3 | c.3349C>G (p.Pro1117Ala) n.3933C>G c.2401C>G (p.Pro801Ala) c.1891C>G (p.Pro631Ala) c.*2347C>G (n.*2347C>G) c.3745C>G (p.Pro1249Ala) c.3727C>G (p.Pro1243Ala) | |
| 22 | g.50721581C>T | CA515262926 | SHANK3 | c.3349C>T (p.Pro1117Ser) n.3933C>T c.2401C>T (p.Pro801Ser) c.1891C>T (p.Pro631Ser) c.*2347C>T (n.*2347C>T) c.3745C>T (p.Pro1249Ser) c.3727C>T (p.Pro1243Ser) | gnomAD v4 |
| 22 | g.50721585_50721596del | CA2577768683 | SHANK3 | c.3353_3364del (p.Leu1118_Pro1121del) n.3937_3948del c.2405_2416del (p.Leu802_Pro805del) c.1895_1906del (p.Leu632_Pro635del) c.*2351_*2362del (n.*2351_*2362del) c.3749_3760del (p.Leu1250_Pro1253del) c.3731_3742del (p.Leu1244_Pro1247del) | |
| 22 | g.50721584_50721596del | CA658658927 | SHANK3 | c.3352_3364del (p.Leu1118GlyfsTer29) n.3936_3948del c.2404_2416del (p.Leu802GlyfsTer29) c.1894_1906del (p.Leu632GlyfsTer29) c.*2350_*2362del (n.*2350_*2362del) c.3748_3760del (p.Leu1250GlyfsTer29) c.3730_3742del (p.Leu1244GlyfsTer29) | ClinVar dbSNP |
| 22 | g.50721582C>A | CA515262928 | SHANK3 | c.3350C>A (p.Pro1117His) n.3934C>A c.2402C>A (p.Pro801His) c.1892C>A (p.Pro631His) c.*2348C>A (n.*2348C>A) c.3746C>A (p.Pro1249His) c.3728C>A (p.Pro1243His) | |
| 22 | g.50721582C= | CA2411008335 | SHANK3 | c.3350C= (p.Pro1117=) n.3934C= c.2402C= (p.Pro801=) c.1892C= (p.Pro631=) c.*2348C= (n.*2348C=) c.3746C= (p.Pro1249=) c.3728C= (p.Pro1243=) | |
| 22 | g.50721582C>G | CA515262929 | SHANK3 | c.3350C>G (p.Pro1117Arg) n.3934C>G c.2402C>G (p.Pro801Arg) c.1892C>G (p.Pro631Arg) c.*2348C>G (n.*2348C>G) c.3746C>G (p.Pro1249Arg) c.3728C>G (p.Pro1243Arg) | |
| 22 | g.50721582C>T | CA515262927 | SHANK3 | c.3350C>T (p.Pro1117Leu) n.3934C>T c.2402C>T (p.Pro801Leu) c.1892C>T (p.Pro631Leu) c.*2348C>T (n.*2348C>T) c.3746C>T (p.Pro1249Leu) c.3728C>T (p.Pro1243Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721583C>A | CA515262930 | SHANK3 | c.3351C>A (p.Pro1117=) n.3935C>A c.2403C>A (p.Pro801=) c.1893C>A (p.Pro631=) c.*2349C>A (n.*2349C>A) c.3747C>A (p.Pro1249=) c.3729C>A (p.Pro1243=) | gnomAD v4 |
| 22 | g.50721583C= | CA2411008336 | SHANK3 | c.3351C= (p.Pro1117=) n.3935C= c.2403C= (p.Pro801=) c.1893C= (p.Pro631=) c.*2349C= (n.*2349C=) c.3747C= (p.Pro1249=) c.3729C= (p.Pro1243=) | |
| 22 | g.50721583C>G | CA515262932 | SHANK3 | c.3351C>G (p.Pro1117=) n.3935C>G c.2403C>G (p.Pro801=) c.1893C>G (p.Pro631=) c.*2349C>G (n.*2349C>G) c.3747C>G (p.Pro1249=) c.3729C>G (p.Pro1243=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721583C>T | CA515262931 | SHANK3 | c.3351C>T (p.Pro1117=) n.3935C>T c.2403C>T (p.Pro801=) c.1893C>T (p.Pro631=) c.*2349C>T (n.*2349C>T) c.3747C>T (p.Pro1249=) c.3729C>T (p.Pro1243=) | dbSNP gnomAD v4 |
| 22 | g.50721584C>A | CA515262933 | SHANK3 | c.3352C>A (p.Leu1118Met) n.3936C>A c.2404C>A (p.Leu802Met) c.1894C>A (p.Leu632Met) c.*2350C>A (n.*2350C>A) c.3748C>A (p.Leu1250Met) c.3730C>A (p.Leu1244Met) | gnomAD v4 |
| 22 | g.50721584C= | CA2411008337 | SHANK3 | c.3352C= (p.Leu1118=) n.3936C= c.2404C= (p.Leu802=) c.1894C= (p.Leu632=) c.*2350C= (n.*2350C=) c.3748C= (p.Leu1250=) c.3730C= (p.Leu1244=) | |
| 22 | g.50721584C>G | CA515262934 | SHANK3 | c.3352C>G (p.Leu1118Val) n.3936C>G c.2404C>G (p.Leu802Val) c.1894C>G (p.Leu632Val) c.*2350C>G (n.*2350C>G) c.3748C>G (p.Leu1250Val) c.3730C>G (p.Leu1244Val) | |
| 22 | g.50721584C>T | CA515262935 | SHANK3 | c.3352C>T (p.Leu1118=) n.3936C>T c.2404C>T (p.Leu802=) c.1894C>T (p.Leu632=) c.*2350C>T (n.*2350C>T) c.3748C>T (p.Leu1250=) c.3730C>T (p.Leu1244=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721584_50721597delinsCTGCCCAGCCCCCG | CA2411008338 | SHANK3 | c.3352_3365delinsCTGCCCAGCCCCCG (p.Leu1118=) n.3936_3949delinsCTGCCCAGCCCCCG c.2404_2417delinsCTGCCCAGCCCCCG (p.Leu802=) c.1894_1907delinsCTGCCCAGCCCCCG (p.Leu632=) c.*2350_*2363delinsCTGCCCAGCCCCCG (n.*2350_*2363delinsCTGCCCAGCCCCCG) c.3748_3761delinsCTGCCCAGCCCCCG (p.Leu1250=) c.3730_3743delinsCTGCCCAGCCCCCG (p.Leu1244=) | |
| 22 | g.50721585T>A | CA515262936 | SHANK3 | c.3353T>A (p.Leu1118Gln) n.3937T>A c.2405T>A (p.Leu802Gln) c.1895T>A (p.Leu632Gln) c.*2351T>A (n.*2351T>A) c.3749T>A (p.Leu1250Gln) c.3731T>A (p.Leu1244Gln) | |
| 22 | g.50721585T>C | CA515262937 | SHANK3 | c.3353T>C (p.Leu1118Pro) n.3937T>C c.2405T>C (p.Leu802Pro) c.1895T>C (p.Leu632Pro) c.*2351T>C (n.*2351T>C) c.3749T>C (p.Leu1250Pro) c.3731T>C (p.Leu1244Pro) | gnomAD v4 |
| 22 | g.50721585T>G | CA515262938 | SHANK3 | c.3353T>G (p.Leu1118Arg) n.3937T>G c.2405T>G (p.Leu802Arg) c.1895T>G (p.Leu632Arg) c.*2351T>G (n.*2351T>G) c.3749T>G (p.Leu1250Arg) c.3731T>G (p.Leu1244Arg) | gnomAD v4 |
| 22 | g.50721585_50721597del | CA658799571 | SHANK3 | c.3353_3365del (p.Leu1118ArgfsTer29) n.3937_3949del c.2405_2417del (p.Leu802ArgfsTer29) c.1895_1907del (p.Leu632ArgfsTer29) c.*2351_*2363del (n.*2351_*2363del) c.3749_3761del (p.Leu1250ArgfsTer29) c.3731_3743del (p.Leu1244ArgfsTer29) | ClinVar dbSNP |
| 22 | g.50721585_50721598delinsTGCCCAGCCCCCGG | CA2411008339 | SHANK3 | c.3353_3366delinsTGCCCAGCCCCCGG (p.Leu1118=) n.3937_3950delinsTGCCCAGCCCCCGG c.2405_2418delinsTGCCCAGCCCCCGG (p.Leu802=) c.1895_1908delinsTGCCCAGCCCCCGG (p.Leu632=) c.*2351_*2364delinsTGCCCAGCCCCCGG (n.*2351_*2364delinsTGCCCAGCCCCCGG) c.3749_3762delinsTGCCCAGCCCCCGG (p.Leu1250=) c.3731_3744delinsTGCCCAGCCCCCGG (p.Leu1244=) | |
| 22 | g.50721586G>A | CA515262939 | SHANK3 | c.3354G>A (p.Leu1118=) n.3938G>A c.2406G>A (p.Leu802=) c.1896G>A (p.Leu632=) c.*2352G>A (n.*2352G>A) c.3750G>A (p.Leu1250=) c.3732G>A (p.Leu1244=) | dbSNP |
| 22 | g.50721586G>C | CA325579435 | SHANK3 | c.3354G>C (p.Leu1118=) n.3938G>C c.2406G>C (p.Leu802=) c.1896G>C (p.Leu632=) c.*2352G>C (n.*2352G>C) c.3750G>C (p.Leu1250=) c.3732G>C (p.Leu1244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721586G= | CA2411008340 | SHANK3 | c.3354G= (p.Leu1118=) n.3938G= c.2406G= (p.Leu802=) c.1896G= (p.Leu632=) c.*2352G= (n.*2352G=) c.3750G= (p.Leu1250=) c.3732G= (p.Leu1244=) | |
| 22 | g.50721586G>T | CA515262940 | SHANK3 | c.3354G>T (p.Leu1118=) n.3938G>T c.2406G>T (p.Leu802=) c.1896G>T (p.Leu632=) c.*2352G>T (n.*2352G>T) c.3750G>T (p.Leu1250=) c.3732G>T (p.Leu1244=) | gnomAD v4 |
| 22 | g.50721597_50721609del | CA10603393 | SHANK3 | c.3365_3377del (p.Arg1122LeufsTer25) n.3949_3961del c.2417_2429del (p.Arg806LeufsTer25) c.1907_1919del (p.Arg636LeufsTer25) c.*2363_*2375del (n.*2363_*2375del) c.3761_3773del (p.Arg1254LeufsTer25) c.3743_3755del (p.Arg1248LeufsTer25) | ClinVar dbSNP |
| 22 | g.50721587C>A | CA515262941 | SHANK3 | c.3355C>A (p.Pro1119Thr) n.3939C>A c.2407C>A (p.Pro803Thr) c.1897C>A (p.Pro633Thr) c.*2353C>A (n.*2353C>A) c.3751C>A (p.Pro1251Thr) c.3733C>A (p.Pro1245Thr) | gnomAD v4 |
| 22 | g.50721587C= | CA2411008341 | SHANK3 | c.3355C= (p.Pro1119=) n.3939C= c.2407C= (p.Pro803=) c.1897C= (p.Pro633=) c.*2353C= (n.*2353C=) c.3751C= (p.Pro1251=) c.3733C= (p.Pro1245=) | |
| 22 | g.50721587C>G | CA515262942 | SHANK3 | c.3355C>G (p.Pro1119Ala) n.3939C>G c.2407C>G (p.Pro803Ala) c.1897C>G (p.Pro633Ala) c.*2353C>G (n.*2353C>G) c.3751C>G (p.Pro1251Ala) c.3733C>G (p.Pro1245Ala) | |
| 22 | g.50721587C>T | CA10326123 | SHANK3 | c.3355C>T (p.Pro1119Ser) n.3939C>T c.2407C>T (p.Pro803Ser) c.1897C>T (p.Pro633Ser) c.*2353C>T (n.*2353C>T) c.3751C>T (p.Pro1251Ser) c.3733C>T (p.Pro1245Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721588C>A | CA515262943 | SHANK3 | c.3356C>A (p.Pro1119His) n.3940C>A c.2408C>A (p.Pro803His) c.1898C>A (p.Pro633His) c.*2354C>A (n.*2354C>A) c.3752C>A (p.Pro1251His) c.3734C>A (p.Pro1245His) | |
| 22 | g.50721588C>G | CA515262945 | SHANK3 | c.3356C>G (p.Pro1119Arg) n.3940C>G c.2408C>G (p.Pro803Arg) c.1898C>G (p.Pro633Arg) c.*2354C>G (n.*2354C>G) c.3752C>G (p.Pro1251Arg) c.3734C>G (p.Pro1245Arg) | |
| 22 | g.50721588C>T | CA515262944 | SHANK3 | c.3356C>T (p.Pro1119Leu) n.3940C>T c.2408C>T (p.Pro803Leu) c.1898C>T (p.Pro633Leu) c.*2354C>T (n.*2354C>T) c.3752C>T (p.Pro1251Leu) c.3734C>T (p.Pro1245Leu) | gnomAD v4 |
| 22 | g.50721589C>A | CA515262946 | SHANK3 | c.3357C>A (p.Pro1119=) n.3941C>A c.2409C>A (p.Pro803=) c.1899C>A (p.Pro633=) c.*2355C>A (n.*2355C>A) c.3753C>A (p.Pro1251=) c.3735C>A (p.Pro1245=) | |
| 22 | g.50721589C= | CA2411008342 | SHANK3 | c.3357C= (p.Pro1119=) n.3941C= c.2409C= (p.Pro803=) c.1899C= (p.Pro633=) c.*2355C= (n.*2355C=) c.3753C= (p.Pro1251=) c.3735C= (p.Pro1245=) | |
| 22 | g.50721589C>G | CA515262947 | SHANK3 | c.3357C>G (p.Pro1119=) n.3941C>G c.2409C>G (p.Pro803=) c.1899C>G (p.Pro633=) c.*2355C>G (n.*2355C>G) c.3753C>G (p.Pro1251=) c.3735C>G (p.Pro1245=) | |
| 22 | g.50721589C>T | CA515262948 | SHANK3 | c.3357C>T (p.Pro1119=) n.3941C>T c.2409C>T (p.Pro803=) c.1899C>T (p.Pro633=) c.*2355C>T (n.*2355C>T) c.3753C>T (p.Pro1251=) c.3735C>T (p.Pro1245=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721590A= | CA2411008343 | SHANK3 | c.3358A= (p.Ser1120=) n.3942A= c.2410A= (p.Ser804=) c.1900A= (p.Ser634=) c.*2356A= (n.*2356A=) c.3754A= (p.Ser1252=) c.3736A= (p.Ser1246=) | |
| 22 | g.50721590A>C | CA515262949 | SHANK3 | c.3358A>C (p.Ser1120Arg) n.3942A>C c.2410A>C (p.Ser804Arg) c.1900A>C (p.Ser634Arg) c.*2356A>C (n.*2356A>C) c.3754A>C (p.Ser1252Arg) c.3736A>C (p.Ser1246Arg) | |
| 22 | g.50721590A>G | CA515262950 | SHANK3 | c.3358A>G (p.Ser1120Gly) n.3942A>G c.2410A>G (p.Ser804Gly) c.1900A>G (p.Ser634Gly) c.*2356A>G (n.*2356A>G) c.3754A>G (p.Ser1252Gly) c.3736A>G (p.Ser1246Gly) | dbSNP |
| 22 | g.50721590A>T | CA515262951 | SHANK3 | c.3358A>T (p.Ser1120Cys) n.3942A>T c.2410A>T (p.Ser804Cys) c.1900A>T (p.Ser634Cys) c.*2356A>T (n.*2356A>T) c.3754A>T (p.Ser1252Cys) c.3736A>T (p.Ser1246Cys) | |
| 22 | g.50721591G>A | CA515262952 | SHANK3 | c.3359G>A (p.Ser1120Asn) n.3943G>A c.2411G>A (p.Ser804Asn) c.1901G>A (p.Ser634Asn) c.*2357G>A (n.*2357G>A) c.3755G>A (p.Ser1252Asn) c.3737G>A (p.Ser1246Asn) | gnomAD v4 |
| 22 | g.50721591G>C | CA515262953 | SHANK3 | c.3359G>C (p.Ser1120Thr) n.3943G>C c.2411G>C (p.Ser804Thr) c.1901G>C (p.Ser634Thr) c.*2357G>C (n.*2357G>C) c.3755G>C (p.Ser1252Thr) c.3737G>C (p.Ser1246Thr) | |
| 22 | g.50721591G= | CA2411008344 | SHANK3 | c.3359G= (p.Ser1120=) n.3943G= c.2411G= (p.Ser804=) c.1901G= (p.Ser634=) c.*2357G= (n.*2357G=) c.3755G= (p.Ser1252=) c.3737G= (p.Ser1246=) | |
| 22 | g.50721591G>T | CA515262954 | SHANK3 | c.3359G>T (p.Ser1120Ile) n.3943G>T c.2411G>T (p.Ser804Ile) c.1901G>T (p.Ser634Ile) c.*2357G>T (n.*2357G>T) c.3755G>T (p.Ser1252Ile) c.3737G>T (p.Ser1246Ile) | |
| 22 | g.50721592C>A | CA515262955 | SHANK3 | c.3360C>A (p.Ser1120Arg) n.3944C>A c.2412C>A (p.Ser804Arg) c.1902C>A (p.Ser634Arg) c.*2358C>A (n.*2358C>A) c.3756C>A (p.Ser1252Arg) c.3738C>A (p.Ser1246Arg) | gnomAD v4 |
| 22 | g.50721592C= | CA2411008345 | SHANK3 | c.3360C= (p.Ser1120=) n.3944C= c.2412C= (p.Ser804=) c.1902C= (p.Ser634=) c.*2358C= (n.*2358C=) c.3756C= (p.Ser1252=) c.3738C= (p.Ser1246=) | |
| 22 | g.50721592C>G | CA515262956 | SHANK3 | c.3360C>G (p.Ser1120Arg) n.3944C>G c.2412C>G (p.Ser804Arg) c.1902C>G (p.Ser634Arg) c.*2358C>G (n.*2358C>G) c.3756C>G (p.Ser1252Arg) c.3738C>G (p.Ser1246Arg) | |
| 22 | g.50721592C>T | CA10326124 | SHANK3 | c.3360C>T (p.Ser1120=) n.3944C>T c.2412C>T (p.Ser804=) c.1902C>T (p.Ser634=) c.*2358C>T (n.*2358C>T) c.3756C>T (p.Ser1252=) c.3738C>T (p.Ser1246=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721596dup | CA915951509 | SHANK3 | c.3364dup (p.Arg1122ProfsTer?) n.3948dup c.2416dup (p.Arg806ProfsTer?) c.1906dup (p.Arg636ProfsTer?) c.*2362dup (n.*2362dup) c.3760dup (p.Arg1254ProfsTer?) c.3742dup (p.Arg1248ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721596del | CA2577768684 | SHANK3 | c.3364del (p.Arg1122GlyfsTer29) n.3948del c.2416del (p.Arg806GlyfsTer29) c.1906del (p.Arg636GlyfsTer29) c.*2362del (n.*2362del) c.3760del (p.Arg1254GlyfsTer29) c.3742del (p.Arg1248GlyfsTer29) | |
| 22 | g.50721593C>A | CA515262957 | SHANK3 | c.3361C>A (p.Pro1121Thr) n.3945C>A c.2413C>A (p.Pro805Thr) c.1903C>A (p.Pro635Thr) c.*2359C>A (n.*2359C>A) c.3757C>A (p.Pro1253Thr) c.3739C>A (p.Pro1247Thr) | |
| 22 | g.50721593C= | CA2411008346 | SHANK3 | c.3361C= (p.Pro1121=) n.3945C= c.2413C= (p.Pro805=) c.1903C= (p.Pro635=) c.*2359C= (n.*2359C=) c.3757C= (p.Pro1253=) c.3739C= (p.Pro1247=) | |
| 22 | g.50721593C>G | CA515262958 | SHANK3 | c.3361C>G (p.Pro1121Ala) n.3945C>G c.2413C>G (p.Pro805Ala) c.1903C>G (p.Pro635Ala) c.*2359C>G (n.*2359C>G) c.3757C>G (p.Pro1253Ala) c.3739C>G (p.Pro1247Ala) | |
| 22 | g.50721593C>T | CA10326125 | SHANK3 | c.3361C>T (p.Pro1121Ser) n.3945C>T c.2413C>T (p.Pro805Ser) c.1903C>T (p.Pro635Ser) c.*2359C>T (n.*2359C>T) c.3757C>T (p.Pro1253Ser) c.3739C>T (p.Pro1247Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721594C>A | CA515262959 | SHANK3 | c.3362C>A (p.Pro1121His) n.3946C>A c.2414C>A (p.Pro805His) c.1904C>A (p.Pro635His) c.*2360C>A (n.*2360C>A) c.3758C>A (p.Pro1253His) c.3740C>A (p.Pro1247His) | dbSNP gnomAD v4 |
| 22 | g.50721594C= | CA2411008347 | SHANK3 | c.3362C= (p.Pro1121=) n.3946C= c.2414C= (p.Pro805=) c.1904C= (p.Pro635=) c.*2360C= (n.*2360C=) c.3758C= (p.Pro1253=) c.3740C= (p.Pro1247=) | |
| 22 | g.50721594C>G | CA515262960 | SHANK3 | c.3362C>G (p.Pro1121Arg) n.3946C>G c.2414C>G (p.Pro805Arg) c.1904C>G (p.Pro635Arg) c.*2360C>G (n.*2360C>G) c.3758C>G (p.Pro1253Arg) c.3740C>G (p.Pro1247Arg) | |
| 22 | g.50721594C>T | CA515262961 | SHANK3 | c.3362C>T (p.Pro1121Leu) n.3946C>T c.2414C>T (p.Pro805Leu) c.1904C>T (p.Pro635Leu) c.*2360C>T (n.*2360C>T) c.3758C>T (p.Pro1253Leu) c.3740C>T (p.Pro1247Leu) | gnomAD v4 |
| 22 | g.50721595C>A | CA515262962 | SHANK3 | c.3363C>A (p.Pro1121=) n.3947C>A c.2415C>A (p.Pro805=) c.1905C>A (p.Pro635=) c.*2361C>A (n.*2361C>A) c.3759C>A (p.Pro1253=) c.3741C>A (p.Pro1247=) | gnomAD v4 |
| 22 | g.50721595C= | CA2411008348 | SHANK3 | c.3363C= (p.Pro1121=) n.3947C= c.2415C= (p.Pro805=) c.1905C= (p.Pro635=) c.*2361C= (n.*2361C=) c.3759C= (p.Pro1253=) c.3741C= (p.Pro1247=) | |
| 22 | g.50721595C>G | CA515262963 | SHANK3 | c.3363C>G (p.Pro1121=) n.3947C>G c.2415C>G (p.Pro805=) c.1905C>G (p.Pro635=) c.*2361C>G (n.*2361C>G) c.3759C>G (p.Pro1253=) c.3741C>G (p.Pro1247=) | |
| 22 | g.50721595C>T | CA10326126 | SHANK3 | c.3363C>T (p.Pro1121=) n.3947C>T c.2415C>T (p.Pro805=) c.1905C>T (p.Pro635=) c.*2361C>T (n.*2361C>T) c.3759C>T (p.Pro1253=) c.3741C>T (p.Pro1247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721596C>A | CA515262964 | SHANK3 | c.3364C>A (p.Arg1122=) n.3948C>A c.2416C>A (p.Arg806=) c.1906C>A (p.Arg636=) c.*2362C>A (n.*2362C>A) c.3760C>A (p.Arg1254=) c.3742C>A (p.Arg1248=) | gnomAD v4 |
| 22 | g.50721596C= | CA2411008349 | SHANK3 | c.3364C= (p.Arg1122=) n.3948C= c.2416C= (p.Arg806=) c.1906C= (p.Arg636=) c.*2362C= (n.*2362C=) c.3760C= (p.Arg1254=) c.3742C= (p.Arg1248=) | |
| 22 | g.50721596C>G | CA515262965 | SHANK3 | c.3364C>G (p.Arg1122Gly) n.3948C>G c.2416C>G (p.Arg806Gly) c.1906C>G (p.Arg636Gly) c.*2362C>G (n.*2362C>G) c.3760C>G (p.Arg1254Gly) c.3742C>G (p.Arg1248Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721596C>T | CA10326127 | SHANK3 | c.3364C>T (p.Arg1122Trp) n.3948C>T c.2416C>T (p.Arg806Trp) c.1906C>T (p.Arg636Trp) c.*2362C>T (n.*2362C>T) c.3760C>T (p.Arg1254Trp) c.3742C>T (p.Arg1248Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721597G>A | CA515262967 | SHANK3 | c.3365G>A (p.Arg1122Gln) n.3949G>A c.2417G>A (p.Arg806Gln) c.1907G>A (p.Arg636Gln) c.*2363G>A (n.*2363G>A) c.3761G>A (p.Arg1254Gln) c.3743G>A (p.Arg1248Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721597G>C | CA515262966 | SHANK3 | c.3365G>C (p.Arg1122Pro) n.3949G>C c.2417G>C (p.Arg806Pro) c.1907G>C (p.Arg636Pro) c.*2363G>C (n.*2363G>C) c.3761G>C (p.Arg1254Pro) c.3743G>C (p.Arg1248Pro) | gnomAD v4 |
| 22 | g.50721597G= | CA2411008350 | SHANK3 | c.3365G= (p.Arg1122=) n.3949G= c.2417G= (p.Arg806=) c.1907G= (p.Arg636=) c.*2363G= (n.*2363G=) c.3761G= (p.Arg1254=) c.3743G= (p.Arg1248=) | |
| 22 | g.50721597G>T | CA325579446 | SHANK3 | c.3365G>T (p.Arg1122Leu) n.3949G>T c.2417G>T (p.Arg806Leu) c.1907G>T (p.Arg636Leu) c.*2363G>T (n.*2363G>T) c.3761G>T (p.Arg1254Leu) c.3743G>T (p.Arg1248Leu) | dbSNP gnomAD v4 |
| 22 | g.50721599dup | CA915951510 | SHANK3 | c.3367dup (p.Ala1123GlyfsTer?) n.3951dup c.2419dup (p.Ala807GlyfsTer?) c.1909dup (p.Ala637GlyfsTer?) c.*2365dup (n.*2365dup) c.3763dup (p.Ala1255GlyfsTer?) c.3745dup (p.Ala1249GlyfsTer?) | ClinVar dbSNP |